From 3e2bf73140dde490348a46e937e47a52b4da5d3c Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Mon, 1 Feb 2021 22:41:19 +0800 Subject: [PATCH 01/72] Initial commit. --- Dockerfile | 14 ++ k8chart/.helmignore | 22 ++ k8chart/Chart.yaml | 5 + k8chart/templates/NOTES.txt | 21 ++ k8chart/templates/_helpers.tpl | 45 ++++ k8chart/templates/curation-ingress.yaml | 17 ++ ...ontotools-curation-service-deployment.yaml | 72 +++++++ k8chart/templates/tests/test-connection.yaml | 15 ++ k8chart/values.yaml | 58 ++++++ pom.xml | 194 ++++++++++++++++++ scripts/build.sh | 6 + .../spot/ontotools/curation/Application.java | 46 +++++ .../ontotools/curation/config/CorsFilter.java | 29 +++ .../curation/config/CurationConfig.java | 46 +++++ .../config/ExceptionHandlerAdvice.java | 29 +++ .../curation/config/JettyConfig.java | 24 +++ .../curation/config/MongoConfig.java | 91 ++++++++ .../curation/config/WebMvcConfig.java | 49 +++++ .../curation/constants/CurationConstants.java | 10 + .../curation/constants/CurationStatus.java | 15 ++ .../ontotools/curation/domain/Comment.java | 31 +++ .../ontotools/curation/domain/Mapping.java | 31 +++ .../curation/domain/MappingSuggestion.java | 31 +++ .../curation/domain/OntologyTerm.java | 40 ++++ .../ontotools/curation/domain/Provenance.java | 17 ++ .../ontotools/curation/domain/Review.java | 28 +++ .../spot/ontotools/curation/domain/Trait.java | 37 ++++ .../spot/ontotools/curation/domain/User.java | 31 +++ .../exception/AuthorizationException.java | 8 + .../exception/EntityNotFoundException.java | 8 + .../repository/CommentRepository.java | 7 + .../repository/MappingRepository.java | 10 + .../MappingSuggestionRepository.java | 7 + .../repository/OntologyTermRepository.java | 10 + .../curation/repository/ReviewRepository.java | 7 + .../curation/repository/TraitRepository.java | 7 + .../curation/repository/UserRepository.java | 7 + .../rest/assembler/MappingDtoAssembler.java | 15 ++ .../assembler/OntologyTermDtoAssembler.java | 16 ++ .../assembler/ProvenanceDtoAssembler.java | 13 ++ .../rest/assembler/TraitDtoAssembler.java | 18 ++ .../rest/controller/TraitsController.java | 70 +++++++ .../curation/rest/dto/MappingDto.java | 49 +++++ .../curation/rest/dto/OntologyTermDto.java | 77 +++++++ .../curation/rest/dto/ProvenanceDto.java | 46 +++++ .../ontotools/curation/rest/dto/TraitDto.java | 77 +++++++ .../ontotools/curation/rest/dto/UserDto.java | 47 +++++ .../curation/service/MappingService.java | 10 + .../service/MappingSuggestionsService.java | 5 + .../curation/service/OntologyTermService.java | 10 + .../curation/service/TraitsService.java | 9 + .../service/impl/MappingServiceImpl.java | 33 +++ .../impl/MappingSuggestionsServiceImpl.java | 14 ++ .../service/impl/OntologyTermServiceImpl.java | 33 +++ .../service/impl/TraitsServiceImpl.java | 21 ++ .../curation/system/GeneralCommon.java | 17 ++ .../system/SystemConfigProperties.java | 45 ++++ .../ontotools/curation/util/CurationUtil.java | 24 +++ .../curation/util/DateTimeCommon.java | 19 ++ .../util/JsonJodaDateTimeDeserializer.java | 20 ++ .../util/JsonJodaDateTimeSerializer.java | 18 ++ .../util/JsonJodaLocalDateDeserializer.java | 20 ++ .../util/JsonJodaLocalDateSerializer.java | 18 ++ src/main/resources/aap.der | Bin 0 -> 871 bytes src/main/resources/application-dev.yml | 13 ++ src/main/resources/application-prod.yml | 10 + src/main/resources/application-sandbox.yml | 10 + src/main/resources/application.yml | 14 ++ src/main/resources/explore.der | Bin 0 -> 871 bytes src/main/resources/logback-spring.xml | 91 ++++++++ src/main/resources/logging-dev.properties | 3 + src/main/resources/logging-prod.properties | 3 + src/main/resources/logging-sandbox.properties | 3 + 73 files changed, 2016 insertions(+) create mode 100644 Dockerfile create mode 100644 k8chart/.helmignore create mode 100644 k8chart/Chart.yaml create mode 100644 k8chart/templates/NOTES.txt create mode 100644 k8chart/templates/_helpers.tpl create mode 100644 k8chart/templates/curation-ingress.yaml create mode 100644 k8chart/templates/ontotools-curation-service-deployment.yaml create mode 100644 k8chart/templates/tests/test-connection.yaml create mode 100644 k8chart/values.yaml create mode 100644 pom.xml create mode 100755 scripts/build.sh create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/Application.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/config/CorsFilter.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/config/CurationConfig.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/config/ExceptionHandlerAdvice.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/config/JettyConfig.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/config/MongoConfig.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/config/WebMvcConfig.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationStatus.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Comment.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Mapping.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MappingSuggestion.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/OntologyTerm.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Provenance.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Review.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Trait.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/User.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/exception/AuthorizationException.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/exception/EntityNotFoundException.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/CommentRepository.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingSuggestionRepository.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ReviewRepository.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/TraitRepository.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/UserRepository.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/OntologyTermDtoAssembler.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProvenanceDtoAssembler.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/TraitDtoAssembler.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/TraitsController.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/MappingDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/OntologyTermDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProvenanceDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/TraitDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/UserDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingSuggestionsService.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/TraitsService.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/TraitsServiceImpl.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/system/GeneralCommon.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/system/SystemConfigProperties.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/util/DateTimeCommon.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/util/JsonJodaDateTimeDeserializer.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/util/JsonJodaDateTimeSerializer.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/util/JsonJodaLocalDateDeserializer.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/util/JsonJodaLocalDateSerializer.java create mode 100644 src/main/resources/aap.der create mode 100644 src/main/resources/application-dev.yml create mode 100644 src/main/resources/application-prod.yml create mode 100644 src/main/resources/application-sandbox.yml create mode 100644 src/main/resources/application.yml create mode 100644 src/main/resources/explore.der create mode 100644 src/main/resources/logback-spring.xml create mode 100644 src/main/resources/logging-dev.properties create mode 100644 src/main/resources/logging-prod.properties create mode 100644 src/main/resources/logging-sandbox.properties diff --git a/Dockerfile b/Dockerfile new file mode 100644 index 0000000..9151247 --- /dev/null +++ b/Dockerfile @@ -0,0 +1,14 @@ +# Import base image +FROM openjdk:15.0.2 + +# Create log file directory and set permission +RUN groupadd -r ontotools-curation-service && useradd -r --create-home -g ontotools-curation-service ontotools-curation-service +RUN if [ ! -d /var/log/ontotools/ ];then mkdir /var/log/ontotools/;fi +RUN chown -R ontotools-curation-service:ontotools-curation-service /var/log/ontotools + +# Move project artifact +ADD target/ontotools-curation-service-*.jar /home/ontotools-curation-service/ +USER ontotools-curation-service + +# Launch application server +ENTRYPOINT exec $JAVA_HOME/bin/java $XMX $XMS -jar -Dspring.profiles.active=$ENVIRONMENT /home/ontotools-curation-service/ontotools-curation-service-*.jar diff --git a/k8chart/.helmignore b/k8chart/.helmignore new file mode 100644 index 0000000..50af031 --- /dev/null +++ b/k8chart/.helmignore @@ -0,0 +1,22 @@ +# Patterns to ignore when building packages. +# This supports shell glob matching, relative path matching, and +# negation (prefixed with !). Only one pattern per line. +.DS_Store +# Common VCS dirs +.git/ +.gitignore +.bzr/ +.bzrignore +.hg/ +.hgignore +.svn/ +# Common backup files +*.swp +*.bak +*.tmp +*~ +# Various IDEs +.project +.idea/ +*.tmproj +.vscode/ diff --git a/k8chart/Chart.yaml b/k8chart/Chart.yaml new file mode 100644 index 0000000..7b5a60b --- /dev/null +++ b/k8chart/Chart.yaml @@ -0,0 +1,5 @@ +apiVersion: v1 +appVersion: "1.0" +description: A Helm chart for Kubernetes +name: ontotools-curation-service +version: 0.1.0 diff --git a/k8chart/templates/NOTES.txt b/k8chart/templates/NOTES.txt new file mode 100644 index 0000000..e5452db --- /dev/null +++ b/k8chart/templates/NOTES.txt @@ -0,0 +1,21 @@ +1. Get the application URL by running these commands: +{{- if .Values.ingress.enabled }} +{{- range $host := .Values.ingress.hosts }} + {{- range .paths }} + http{{ if $.Values.ingress.tls }}s{{ end }}://{{ $host.host }}{{ . }} + {{- end }} +{{- end }} +{{- else if contains "NodePort" .Values.service.type }} + export NODE_PORT=$(kubectl get --namespace {{ .Release.Namespace }} -o jsonpath="{.spec.ports[0].nodePort}" services {{ include "ontotools-curation-service.fullname" . }}) + export NODE_IP=$(kubectl get nodes --namespace {{ .Release.Namespace }} -o jsonpath="{.items[0].status.addresses[0].address}") + echo http://$NODE_IP:$NODE_PORT +{{- else if contains "LoadBalancer" .Values.service.type }} + NOTE: It may take a few minutes for the LoadBalancer IP to be available. + You can watch the status of by running 'kubectl get --namespace {{ .Release.Namespace }} svc -w {{ include "ontotools-curation-service.fullname" . }}' + export SERVICE_IP=$(kubectl get svc --namespace {{ .Release.Namespace }} {{ include "ontotools-curation-service.fullname" . }} -o jsonpath='{.status.loadBalancer.ingress[0].ip}') + echo http://$SERVICE_IP:{{ .Values.service.port }} +{{- else if contains "ClusterIP" .Values.service.type }} + export POD_NAME=$(kubectl get pods --namespace {{ .Release.Namespace }} -l "app.kubernetes.io/name={{ include "ontotools-curation-service.name" . }},app.kubernetes.io/instance={{ .Release.Name }}" -o jsonpath="{.items[0].metadata.name}") + echo "Visit http://127.0.0.1:8080 to use your application" + kubectl port-forward $POD_NAME 8080:80 +{{- end }} diff --git a/k8chart/templates/_helpers.tpl b/k8chart/templates/_helpers.tpl new file mode 100644 index 0000000..2b15432 --- /dev/null +++ b/k8chart/templates/_helpers.tpl @@ -0,0 +1,45 @@ +{{/* vim: set filetype=mustache: */}} +{{/* +Expand the name of the chart. +*/}} +{{- define "ontotools-curation-service.name" -}} +{{- default .Chart.Name .Values.nameOverride | trunc 63 | trimSuffix "-" -}} +{{- end -}} + +{{/* +Create a default fully qualified app name. +We truncate at 63 chars because some Kubernetes name fields are limited to this (by the DNS naming spec). +If release name contains chart name it will be used as a full name. +*/}} +{{- define "ontotools-curation-service.fullname" -}} +{{- if .Values.fullnameOverride -}} +{{- .Values.fullnameOverride | trunc 63 | trimSuffix "-" -}} +{{- else -}} +{{- $name := default .Chart.Name .Values.nameOverride -}} +{{- if contains $name .Release.Name -}} +{{- .Release.Name | trunc 63 | trimSuffix "-" -}} +{{- else -}} +{{- printf "%s-%s" .Release.Name $name | trunc 63 | trimSuffix "-" -}} +{{- end -}} +{{- end -}} +{{- end -}} + +{{/* +Create chart name and version as used by the chart label. +*/}} +{{- define "ontotools-curation-service.chart" -}} +{{- printf "%s-%s" .Chart.Name .Chart.Version | replace "+" "_" | trunc 63 | trimSuffix "-" -}} +{{- end -}} + +{{/* +Common labels +*/}} +{{- define "ontotools-curation-service.labels" -}} +app.kubernetes.io/name: {{ include "ontotools-curation-service.name" . }} +helm.sh/chart: {{ include "ontotools-curation-service.chart" . }} +app.kubernetes.io/instance: {{ .Release.Name }} +{{- if .Chart.AppVersion }} +app.kubernetes.io/version: {{ .Chart.AppVersion | quote }} +{{- end }} +app.kubernetes.io/managed-by: {{ .Release.Service }} +{{- end -}} diff --git a/k8chart/templates/curation-ingress.yaml b/k8chart/templates/curation-ingress.yaml new file mode 100644 index 0000000..e6f95ca --- /dev/null +++ b/k8chart/templates/curation-ingress.yaml @@ -0,0 +1,17 @@ +apiVersion: extensions/v1beta1 +kind: Ingress +metadata: + name: curation-ingress + annotations: + nginx.ingress.kubernetes.io/rewrite-target: /$2 + nginx.ingress.kubernetes.io/ssl-redirect: "false" + namespace: {{.Values.k8Namespace}} +spec: + rules: + - host: + http: + paths: + - path: {{.Values.ingress.path}} + curation: + serviceName: {{.Values.service.name}} + servicePort: {{.Values.service.port}} diff --git a/k8chart/templates/ontotools-curation-service-deployment.yaml b/k8chart/templates/ontotools-curation-service-deployment.yaml new file mode 100644 index 0000000..ee5ae50 --- /dev/null +++ b/k8chart/templates/ontotools-curation-service-deployment.yaml @@ -0,0 +1,72 @@ +apiVersion: extensions/v1beta1 +kind: Deployment +metadata: + name: {{.Values.service.name}} + namespace: {{.Values.k8Namespace}} + lables: + version: {{.Values.image.tag}} +spec: + replicas: {{.Values.replicaCount}} + strategy: + type: RollingUpdate + rollingUpdate: + maxSurge: 1 + maxUnavailable: 0 + template: + metadata: + labels: + app: {{.Values.service.name}} + spec: + containers: + - name: {{.Values.service.name}} + image: "{{.Values.image.repository}}:{{.Values.image.tag}}" + imagePullPolicy: {{.Values.image.pullPolicy}} + resources: + requests: + cpu: {{.Values.resources.requests.cpu}} + memory: {{.Values.resources.requests.memory}} + limits: + cpu: {{.Values.resources.limits.cpu}} + memory: {{.Values.resources.limits.memory}} + ports: + - name: http + containerPort: {{.Values.image.containerPort}} + volumeMounts: + - mountPath: {{.Values.image.logMountPath}} + name: log + env: + - name: ENVIRONMENT + value: {{.Values.image.env.envName}} + - name: XMS + value: {{.Values.image.env.xms}} + - name: XMX + value: {{.Values.image.env.xmx}} + - name: LOG_FILE_NAME + value: {{.Values.image.env.logFileName}} + - name: DB_USER + value: {{.Values.image.env.dbUser}} + - name: DB_PASSWORD + valueFrom: + secretKeyRef: + name: {{.Values.image.env.secretsName}} + key: {{.Values.image.env.secretsKey}} + volumes: + - name: log + persistentVolumeClaim: + claimName: {{ .Values.image.volume.claimName }} +--- +kind: Service +apiVersion: v1 +metadata: + labels: + app: {{.Values.service.name}} + version: {{.Values.image.tag}} + name: {{.Values.service.name}} + namespace: {{.Values.k8Namespace}} +spec: + type: {{.Values.service.type}} + ports: + - name: "application" + port: {{.Values.service.port}} + selector: + app: {{.Values.service.name}} diff --git a/k8chart/templates/tests/test-connection.yaml b/k8chart/templates/tests/test-connection.yaml new file mode 100644 index 0000000..0533f04 --- /dev/null +++ b/k8chart/templates/tests/test-connection.yaml @@ -0,0 +1,15 @@ +apiVersion: v1 +kind: Pod +metadata: + name: "{{ include "ontotools-curation-service.fullname" . }}-test-connection" + labels: +{{ include "ontotools-curation-service.labels" . | indent 4 }} + annotations: + "helm.sh/hook": test-success +spec: + containers: + - name: wget + image: busybox + command: ['wget'] + args: ['{{ include "ontotools-curation-service.fullname" . }}:{{ .Values.service.port }}'] + restartPolicy: Never diff --git a/k8chart/values.yaml b/k8chart/values.yaml new file mode 100644 index 0000000..247bf45 --- /dev/null +++ b/k8chart/values.yaml @@ -0,0 +1,58 @@ +# Default values for ontotools-backend-service. +# This is a YAML-formatted file. +# Declare variables to be passed into your templates. + +replicaCount: 1 + +image: + repository: ebispot/ontotools-curation-service + tag: latest + pullPolicy: Always + containerPort: 8080 + logMountPath: "/var/log/ontotools" + env: + envName: "sandbox" + logFileName: "ontotools-curation-service" + xms: "-Xms256m" + xmx: "-Xmx256m" + dbUser: "" + secretsName: "" + secretsKey: "" + volume: + claimName: ontotools-depo-logs + +imagePullSecrets: [] +nameOverride: "" +fullnameOverride: "" + +service: + name: ontotools-curation-service + type: NodePort + port: 8080 + +ingress: + enabled: false + annotations: {} + # kubernetes.io/ingress.class: nginx + # kubernetes.io/tls-acme: "true" + + host: chart-example.local + path: "/curation(/|$)(.*)" + + tls: [] + +k8Namespace: default + +resources: + limits: + cpu: 100m + memory: 256Mi + requests: + cpu: 200m + memory: 512Mi + +nodeSelector: {} + +tolerations: [] + +affinity: {} diff --git a/pom.xml b/pom.xml new file mode 100644 index 0000000..7babef9 --- /dev/null +++ b/pom.xml @@ -0,0 +1,194 @@ + + + 4.0.0 + + uk.ac.ebi.spot.ontotools + ontotools-curation-service + 0.0.1-SNAPSHOT + jar + + OntoTools Curation Service + + + org.springframework.boot + spring-boot-starter-parent + 2.4.2 + + + + + UTF-8 + uk.ac.ebi.spot.ontotools.curation.Application + + 2.4.2 + 5.3.3 + 4.0.1 + 2.0.1.Final + + 2.10.9 + 1.18.18 + 4.4 + 1.4 + 2.8.0 + 3.11 + 0.9.1 + 1.3 + 1.2.3 + 3.2.18 + 4.13.1 + 3.7.7 + 3.5.2 + + + + scm:git:https://github.com/EBISPOT/ontotools-curator.git + scm:git:https://github.com/EBISPOT/ontotools-curator.git + https://github.com/EBISPOT/ontotools-curator.git + + + + + + org.springframework.boot + spring-boot-maven-plugin + + + + + + + org.springframework.boot + spring-boot-starter-web + + + org.springframework.boot + spring-boot-starter-tomcat + + + + + org.springframework.boot + spring-boot-starter-jetty + + + org.springframework.boot + spring-boot + + + org.springframework.boot + spring-boot-test + + + org.springframework.boot + spring-boot-starter-data-mongodb + + + org.springframework.data + spring-data-mongodb + + + org.springframework.boot + spring-boot-starter-actuator + + + org.springframework.boot + spring-boot-starter-mail + + + org.springframework.boot + spring-boot-starter-thymeleaf + + + joda-time + joda-time + ${joda.time} + + + javax.servlet + javax.servlet-api + ${javax.servlet} + + + javax.validation + validation-api + ${javax.validation} + + + org.projectlombok + lombok + ${lombok.version} + + + org.apache.commons + commons-collections4 + ${commons.collections} + + + commons-fileupload + commons-fileupload + ${commons.fileupload} + + + commons-io + commons-io + ${commons.io} + + + org.apache.commons + commons-lang3 + ${commons.lang3} + + + io.jsonwebtoken + jjwt + ${jjwt.version} + + + org.hamcrest + hamcrest-core + ${hamcrest.core} + + + ch.qos.logback + logback-classic + ${logback.classic} + + + ch.qos.logback + logback-core + ${logback.classic} + + + ognl + ognl + ${ognl.version} + + + + junit + junit + ${junit.version} + + + org.mockito + mockito-core + ${mockito.core} + test + + + nl.jqno.equalsverifier + equalsverifier + ${equalsverifier.version} + test + + + org.springframework + spring-test + ${spring.test} + test + + + + diff --git a/scripts/build.sh b/scripts/build.sh new file mode 100755 index 0000000..ffd2b8b --- /dev/null +++ b/scripts/build.sh @@ -0,0 +1,6 @@ +#!/bin/bash + +cd .. +docker build --force-rm=true -t ontotools-curation-service:latest . +docker tag ontotools-curation-service:latest ebispot/ontotools-curation-service:latest-sandbox +docker push ebispot/ontotools-curation-service:latest-sandbox diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/Application.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/Application.java new file mode 100644 index 0000000..9feff60 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/Application.java @@ -0,0 +1,46 @@ +package uk.ac.ebi.spot.ontotools.curation; + +import org.joda.time.DateTime; +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.boot.SpringApplication; +import org.springframework.boot.autoconfigure.SpringBootApplication; +import org.springframework.scheduling.annotation.EnableAsync; +import org.springframework.scheduling.annotation.EnableScheduling; +import org.springframework.web.servlet.config.annotation.WebMvcConfigurer; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; +import uk.ac.ebi.spot.ontotools.curation.system.SystemConfigProperties; + +import javax.annotation.PostConstruct; +import javax.annotation.PreDestroy; +import java.net.InetAddress; +import java.net.UnknownHostException; + +@SpringBootApplication(scanBasePackages = "uk.ac.ebi.spot.ontotools") +@EnableScheduling +@EnableAsync +public class Application implements WebMvcConfigurer { + + private static final Logger log = LoggerFactory.getLogger(Application.class); + + @Autowired + private SystemConfigProperties systemConfigProperties; + + @PostConstruct + public void init() { + log.info("[{}] Initializing: {}", DateTime.now(), systemConfigProperties.getServerName()); + } + + @PreDestroy + public void destroy() { + log.info("[{}] Shutting down: {}", DateTime.now(), systemConfigProperties.getServerName()); + } + + public static void main(String[] args) throws UnknownHostException { + String hostAddress = InetAddress.getLocalHost().getHostAddress(); + String logFileName = System.getenv(GeneralCommon.LOG_FILE_NAME); + System.setProperty("log.file.name", logFileName + "-" + hostAddress); + SpringApplication.run(Application.class, args); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/CorsFilter.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/CorsFilter.java new file mode 100644 index 0000000..86dfe04 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/CorsFilter.java @@ -0,0 +1,29 @@ +package uk.ac.ebi.spot.ontotools.curation.config; + +import org.springframework.stereotype.Component; +import org.springframework.web.filter.OncePerRequestFilter; + +import javax.servlet.FilterChain; +import javax.servlet.ServletException; +import javax.servlet.http.HttpServletRequest; +import javax.servlet.http.HttpServletResponse; +import java.io.IOException; + +@Component +public class CorsFilter extends OncePerRequestFilter { + + @Override + protected void doFilterInternal(HttpServletRequest request, HttpServletResponse response, FilterChain filterChain) throws ServletException, IOException { + response.setHeader("Access-Control-Allow-Origin", "*"); + response.setHeader("Access-Control-Allow-Methods", "GET, POST, PUT, DELETE, OPTIONS"); + response.setHeader("Access-Control-Max-Age", "3600"); + response.setHeader("Access-Control-Allow-Credentials", "true"); + response.setHeader("Access-Control-Allow-Headers", "authorization, content-type, xsrf-token"); + response.addHeader("Access-Control-Expose-Headers", "xsrf-token"); + if ("OPTIONS".equals(request.getMethod())) { + response.setStatus(HttpServletResponse.SC_OK); + } else { + filterChain.doFilter(request, response); + } + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/CurationConfig.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/CurationConfig.java new file mode 100644 index 0000000..0a6a34a --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/CurationConfig.java @@ -0,0 +1,46 @@ +package uk.ac.ebi.spot.ontotools.curation.config; + +import org.springframework.beans.factory.annotation.Value; +import org.springframework.stereotype.Component; +import uk.ac.ebi.spot.ontotools.curation.util.CurationUtil; + +import java.util.List; + +@Component +public class CurationConfig { + + @Value("${ontotools-curation.auth.enabled}") + private boolean authEnabled; + + @Value("${ontotools-curation.auth.cert:#{NULL}}") + private String certPath; + + @Value("${ontotools-curation.auth.curators.auth-mechanism:JWT_DOMAIN}") + private String curatorAuthMechanism; + + @Value("${ontotools-curation.auth.curators.jwt-domains:#{NULL}}") + private String curatorDomains; + + @Value("${ontotools-curation.db:#{NULL}}") + private String dbName; + + public String getDbName() { + return dbName; + } + + public boolean isAuthEnabled() { + return authEnabled; + } + + public String getCertPath() { + return certPath; + } + + public String getCuratorAuthMechanism() { + return curatorAuthMechanism; + } + + public List getCuratorDomains() { + return CurationUtil.sToList(curatorDomains); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/ExceptionHandlerAdvice.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/ExceptionHandlerAdvice.java new file mode 100644 index 0000000..c51eafd --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/ExceptionHandlerAdvice.java @@ -0,0 +1,29 @@ +package uk.ac.ebi.spot.ontotools.curation.config; + +import org.springframework.http.HttpHeaders; +import org.springframework.http.HttpStatus; +import org.springframework.http.MediaType; +import org.springframework.http.ResponseEntity; +import org.springframework.web.bind.annotation.ControllerAdvice; +import org.springframework.web.bind.annotation.ExceptionHandler; +import org.springframework.web.bind.annotation.RestController; +import uk.ac.ebi.spot.ontotools.curation.exception.AuthorizationException; +import uk.ac.ebi.spot.ontotools.curation.exception.EntityNotFoundException; + +@ControllerAdvice(annotations = RestController.class) +public class ExceptionHandlerAdvice { + + @ExceptionHandler(AuthorizationException.class) + public ResponseEntity handleAuthorizationException(AuthorizationException e) { + HttpHeaders headers = new HttpHeaders(); + headers.setContentType(MediaType.TEXT_PLAIN); + return new ResponseEntity<>(e.getMessage(), headers, HttpStatus.UNAUTHORIZED); + } + + @ExceptionHandler(EntityNotFoundException.class) + public ResponseEntity handleAuthorizationException(EntityNotFoundException e) { + HttpHeaders headers = new HttpHeaders(); + headers.setContentType(MediaType.TEXT_PLAIN); + return new ResponseEntity<>(e.getMessage(), headers, HttpStatus.NOT_FOUND); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/JettyConfig.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/JettyConfig.java new file mode 100644 index 0000000..688c8e9 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/JettyConfig.java @@ -0,0 +1,24 @@ +package uk.ac.ebi.spot.ontotools.curation.config; + +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.boot.web.embedded.jetty.JettyServletWebServerFactory; +import org.springframework.boot.web.servlet.server.ServletWebServerFactory; +import org.springframework.context.annotation.Bean; +import org.springframework.context.annotation.Configuration; +import uk.ac.ebi.spot.ontotools.curation.system.SystemConfigProperties; + +@Configuration +public class JettyConfig { + + @Autowired + private SystemConfigProperties systemConfigProperties; + + @Bean + public ServletWebServerFactory servletContainer() { + JettyServletWebServerFactory factory = new JettyServletWebServerFactory(); + int port = Integer.parseInt(systemConfigProperties.getServerPort()); + factory.setPort(port); + return factory; + } +} + diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/MongoConfig.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/MongoConfig.java new file mode 100644 index 0000000..060fa43 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/MongoConfig.java @@ -0,0 +1,91 @@ +package uk.ac.ebi.spot.ontotools.curation.config; + +import com.mongodb.client.MongoClient; +import com.mongodb.client.MongoClients; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.context.annotation.Bean; +import org.springframework.context.annotation.Configuration; +import org.springframework.context.annotation.Profile; +import org.springframework.data.mongodb.config.AbstractMongoClientConfiguration; +import org.springframework.data.mongodb.core.convert.MappingMongoConverter; +import org.springframework.data.mongodb.gridfs.GridFsTemplate; +import org.springframework.data.mongodb.repository.config.EnableMongoRepositories; +import org.springframework.transaction.annotation.EnableTransactionManagement; +import uk.ac.ebi.spot.ontotools.curation.system.SystemConfigProperties; + +public class MongoConfig { + + @Configuration + @EnableMongoRepositories(basePackages = {"uk.ac.ebi.spot.ontotools.curation.repository"}) + @EnableTransactionManagement + @Profile({"sandbox"}) + public static class MongoConfigDevSandbox extends AbstractMongoClientConfiguration { + + @Autowired + private SystemConfigProperties systemConfigProperties; + + @Autowired + private CurationConfig curationConfig; + + @Autowired + private MappingMongoConverter mongoConverter; + + @Override + protected String getDatabaseName() { + return curationConfig.getDbName(); + } + + @Bean + public GridFsTemplate gridFsTemplate() { + return new GridFsTemplate(mongoDbFactory(), mongoConverter); + } + + @Override + public MongoClient mongoClient() { + return MongoClients.create("mongodb://" + systemConfigProperties.getMongoUri()); + } + } + + @Configuration + @EnableMongoRepositories(basePackages = {"uk.ac.ebi.spot.ontotools.curation.repository"}) + @EnableTransactionManagement + @Profile({"prod"}) + public static class MongoConfigProd extends AbstractMongoClientConfiguration { + + @Autowired + private SystemConfigProperties systemConfigProperties; + + @Autowired + private CurationConfig curationConfig; + + @Autowired + private MappingMongoConverter mongoConverter; + + @Override + protected String getDatabaseName() { + return curationConfig.getDbName(); + } + + @Bean + public GridFsTemplate gridFsTemplate() { + return new GridFsTemplate(mongoDbFactory(), mongoConverter); + } + + @Override + public MongoClient mongoClient() { + String dbUser = systemConfigProperties.getDbUser(); + String dbPassword = systemConfigProperties.getDbPassword(); + String credentials = ""; + if (dbUser != null && dbPassword != null) { + dbUser = dbUser.trim(); + dbPassword = dbPassword.trim(); + if (!dbUser.equalsIgnoreCase("") && + !dbPassword.equalsIgnoreCase("")) { + credentials = dbUser + ":" + dbPassword + "@"; + } + } + + return MongoClients.create("mongodb://" + credentials + systemConfigProperties.getMongoUri()); + } + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/WebMvcConfig.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/WebMvcConfig.java new file mode 100644 index 0000000..6d01bfe --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/WebMvcConfig.java @@ -0,0 +1,49 @@ +package uk.ac.ebi.spot.ontotools.curation.config; + +import org.springframework.context.annotation.Bean; +import org.springframework.context.annotation.Configuration; +import org.springframework.core.annotation.Order; +import org.springframework.core.task.SimpleAsyncTaskExecutor; +import org.springframework.web.multipart.commons.CommonsMultipartResolver; +import org.springframework.web.multipart.support.MultipartFilter; +import org.springframework.web.servlet.config.annotation.CorsRegistry; +import org.springframework.web.servlet.config.annotation.WebMvcConfigurer; + +import java.util.concurrent.Executor; + + +public class WebMvcConfig { + + @Configuration + public static class GeneralWebMvcConfig implements WebMvcConfigurer { + + @Bean + public Executor taskExecutor() { + return new SimpleAsyncTaskExecutor(); + } + + @Bean + @Order(0) + public MultipartFilter multipartFilter() { + MultipartFilter multipartFilter = new MultipartFilter(); + multipartFilter.setMultipartResolverBeanName("filterMultipartResolver"); + return multipartFilter; + } + + @Bean(name = "filterMultipartResolver") + public CommonsMultipartResolver multipartResolver() { + CommonsMultipartResolver multipartResolver = new CommonsMultipartResolver(); + multipartResolver.setMaxUploadSize(30000000); + return multipartResolver; + } + + @Override + public void addCorsMappings(CorsRegistry registry) { + registry.addMapping("/**") + .allowedOrigins("http://localhost:80") + .allowedMethods("GET", "POST", "PUT", "OPTIONS", "DELETE", "PATCH", "FETCH") + .allowCredentials(true) + .allowedHeaders("*", "Access-Control-Allow-Origin", "Access-Control-Allow-Credentials"); + } + } +} \ No newline at end of file diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java new file mode 100644 index 0000000..8697663 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java @@ -0,0 +1,10 @@ +package uk.ac.ebi.spot.ontotools.curation.constants; + +public class CurationConstants { + + public static final String API_TRAITS = "/traits"; + + public static final String API_MAPPINGS = "/mappings"; + + public static final String API_SUGGESTIONS = "/mapping-suggestions"; +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationStatus.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationStatus.java new file mode 100644 index 0000000..63224a0 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationStatus.java @@ -0,0 +1,15 @@ +package uk.ac.ebi.spot.ontotools.curation.constants; + +public enum CurationStatus { + + CURRENT, + UNMAPPED, + OBSOLETE, + DELETED, + NEEDS_IMPORT, + AWAITING_IMPORT, + NEEDS_CREATION, + AWAITING_CREATION, + AWAITING_REVIEW + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Comment.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Comment.java new file mode 100644 index 0000000..eedfdc8 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Comment.java @@ -0,0 +1,31 @@ +package uk.ac.ebi.spot.ontotools.curation.domain; + +import lombok.Getter; +import lombok.Setter; +import org.springframework.data.annotation.Id; +import org.springframework.data.mongodb.core.mapping.Document; + +@Document(collection = "comments") +@Getter +@Setter +public class Comment { + + @Id + private String id; + + private String mappedTraitId; + + private Provenance created; + + private String body; + + public Comment() { + + } + + public Comment(String mappedTraitId, String body, Provenance created) { + this.mappedTraitId = mappedTraitId; + this.created = created; + this.body = body; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Mapping.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Mapping.java new file mode 100644 index 0000000..f3e637c --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Mapping.java @@ -0,0 +1,31 @@ +package uk.ac.ebi.spot.ontotools.curation.domain; + +import lombok.Getter; +import lombok.Setter; +import org.springframework.data.annotation.Id; +import org.springframework.data.mongodb.core.mapping.Document; + +@Document(collection = "mappings") +@Getter +@Setter +public class Mapping { + + @Id + private String id; + + private String mappedTraitId; + + private String mappedTermId; + + private Provenance created; + + public Mapping() { + + } + + public Mapping(String mappedTraitId, String mappedTermId, Provenance created) { + this.mappedTraitId = mappedTraitId; + this.mappedTermId = mappedTermId; + this.created = created; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MappingSuggestion.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MappingSuggestion.java new file mode 100644 index 0000000..1915fdd --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MappingSuggestion.java @@ -0,0 +1,31 @@ +package uk.ac.ebi.spot.ontotools.curation.domain; + +import lombok.Getter; +import lombok.Setter; +import org.springframework.data.annotation.Id; +import org.springframework.data.mongodb.core.mapping.Document; + +@Document(collection = "mappingSuggestions") +@Getter +@Setter +public class MappingSuggestion { + + @Id + private String id; + + private String mappedTraitId; + + private String mappedTermId; + + private Provenance created; + + public MappingSuggestion() { + + } + + public MappingSuggestion(String mappedTraitId, String mappedTermId, Provenance created) { + this.mappedTraitId = mappedTraitId; + this.mappedTermId = mappedTermId; + this.created = created; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/OntologyTerm.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/OntologyTerm.java new file mode 100644 index 0000000..0c31373 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/OntologyTerm.java @@ -0,0 +1,40 @@ +package uk.ac.ebi.spot.ontotools.curation.domain; + +import lombok.Getter; +import lombok.Setter; +import org.springframework.data.annotation.Id; +import org.springframework.data.mongodb.core.mapping.Document; + +@Document(collection = "ontologyTerms") +@Getter +@Setter +public class OntologyTerm { + + @Id + private String id; + + private String curie; + + private String iri; + + private String label; + + private String status; + + private String description; + + private String crossRefs; + + public OntologyTerm() { + + } + + public OntologyTerm(String curie, String iri, String label, String status, String description, String crossRefs) { + this.curie = curie; + this.iri = iri; + this.label = label; + this.status = status; + this.description = description; + this.crossRefs = crossRefs; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Provenance.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Provenance.java new file mode 100644 index 0000000..8e77a99 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Provenance.java @@ -0,0 +1,17 @@ +package uk.ac.ebi.spot.ontotools.curation.domain; + +import lombok.Getter; +import org.joda.time.DateTime; + +@Getter +public class Provenance { + + private String userId; + + private DateTime timestamp; + + public Provenance(String userId, DateTime timestamp) { + this.userId = userId; + this.timestamp = timestamp; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Review.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Review.java new file mode 100644 index 0000000..c873539 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Review.java @@ -0,0 +1,28 @@ +package uk.ac.ebi.spot.ontotools.curation.domain; + +import lombok.Getter; +import lombok.Setter; +import org.springframework.data.annotation.Id; +import org.springframework.data.mongodb.core.mapping.Document; + +@Document(collection = "reviews") +@Getter +@Setter +public class Review { + + @Id + private String id; + + private String reviewId; + + private Provenance created; + + public Review() { + + } + + public Review(String reviewId, Provenance created) { + this.reviewId = reviewId; + this.created = created; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Trait.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Trait.java new file mode 100644 index 0000000..b767e67 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Trait.java @@ -0,0 +1,37 @@ +package uk.ac.ebi.spot.ontotools.curation.domain; + +import lombok.Getter; +import lombok.Setter; +import org.springframework.data.annotation.Id; +import org.springframework.data.mongodb.core.mapping.Document; + +@Document(collection = "traits") +@Getter +@Setter +public class Trait { + + @Id + private String id; + + private String name; + + private String currentMappingId; + + private int noSourceRecords; + + private Provenance created; + + private Provenance lastUpdated; + + public Trait() { + } + + + public Trait(String name, String currentMappingId, Provenance created) { + this.name = name; + this.currentMappingId = currentMappingId; + this.noSourceRecords = 0; + this.created = created; + this.lastUpdated = created; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/User.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/User.java new file mode 100644 index 0000000..9234dc0 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/User.java @@ -0,0 +1,31 @@ +package uk.ac.ebi.spot.ontotools.curation.domain; + +import lombok.Getter; +import lombok.Setter; +import org.springframework.data.annotation.Id; +import org.springframework.data.mongodb.core.mapping.Document; + +@Document(collection = "users") +@Getter +@Setter +public class User { + + @Id + private String id; + + private String username; + + private String email; + + private String role; + + public User() { + + } + + public User(String username, String email, String role) { + this.username = username; + this.email = email; + this.role = role; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/exception/AuthorizationException.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/exception/AuthorizationException.java new file mode 100644 index 0000000..60e0618 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/exception/AuthorizationException.java @@ -0,0 +1,8 @@ +package uk.ac.ebi.spot.ontotools.curation.exception; + +public class AuthorizationException extends RuntimeException { + + public AuthorizationException(String message) { + super(message); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/exception/EntityNotFoundException.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/exception/EntityNotFoundException.java new file mode 100644 index 0000000..9a90164 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/exception/EntityNotFoundException.java @@ -0,0 +1,8 @@ +package uk.ac.ebi.spot.ontotools.curation.exception; + +public class EntityNotFoundException extends RuntimeException { + + public EntityNotFoundException(String message) { + super(message); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/CommentRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/CommentRepository.java new file mode 100644 index 0000000..a268796 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/CommentRepository.java @@ -0,0 +1,7 @@ +package uk.ac.ebi.spot.ontotools.curation.repository; + +import org.springframework.data.mongodb.repository.MongoRepository; +import uk.ac.ebi.spot.ontotools.curation.domain.Comment; + +public interface CommentRepository extends MongoRepository { +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java new file mode 100644 index 0000000..2920795 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java @@ -0,0 +1,10 @@ +package uk.ac.ebi.spot.ontotools.curation.repository; + +import org.springframework.data.mongodb.repository.MongoRepository; +import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; + +import java.util.List; + +public interface MappingRepository extends MongoRepository { + List findByIdIn(List mappingIds); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingSuggestionRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingSuggestionRepository.java new file mode 100644 index 0000000..62736ed --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingSuggestionRepository.java @@ -0,0 +1,7 @@ +package uk.ac.ebi.spot.ontotools.curation.repository; + +import org.springframework.data.mongodb.repository.MongoRepository; +import uk.ac.ebi.spot.ontotools.curation.domain.MappingSuggestion; + +public interface MappingSuggestionRepository extends MongoRepository { +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java new file mode 100644 index 0000000..f9a4aae --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java @@ -0,0 +1,10 @@ +package uk.ac.ebi.spot.ontotools.curation.repository; + +import org.springframework.data.mongodb.repository.MongoRepository; +import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; + +import java.util.List; + +public interface OntologyTermRepository extends MongoRepository { + List findByIdIn(List ontoTermIds); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ReviewRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ReviewRepository.java new file mode 100644 index 0000000..17b231a --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ReviewRepository.java @@ -0,0 +1,7 @@ +package uk.ac.ebi.spot.ontotools.curation.repository; + +import org.springframework.data.mongodb.repository.MongoRepository; +import uk.ac.ebi.spot.ontotools.curation.domain.Review; + +public interface ReviewRepository extends MongoRepository { +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/TraitRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/TraitRepository.java new file mode 100644 index 0000000..89ceb08 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/TraitRepository.java @@ -0,0 +1,7 @@ +package uk.ac.ebi.spot.ontotools.curation.repository; + +import org.springframework.data.mongodb.repository.MongoRepository; +import uk.ac.ebi.spot.ontotools.curation.domain.Trait; + +public interface TraitRepository extends MongoRepository { +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/UserRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/UserRepository.java new file mode 100644 index 0000000..e8f277a --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/UserRepository.java @@ -0,0 +1,7 @@ +package uk.ac.ebi.spot.ontotools.curation.repository; + +import org.springframework.data.mongodb.repository.MongoRepository; +import uk.ac.ebi.spot.ontotools.curation.domain.User; + +public interface UserRepository extends MongoRepository { +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java new file mode 100644 index 0000000..060a6c7 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java @@ -0,0 +1,15 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.assembler; + +import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; +import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.MappingDto; + +public class MappingDtoAssembler { + + public static MappingDto assemble(Mapping mapping, OntologyTerm ontologyTerm) { + return new MappingDto(mapping.getId(), + OntologyTermDtoAssembler.assemble(ontologyTerm), + ProvenanceDtoAssembler.assemble(mapping.getCreated())); + } + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/OntologyTermDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/OntologyTermDtoAssembler.java new file mode 100644 index 0000000..64f5b72 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/OntologyTermDtoAssembler.java @@ -0,0 +1,16 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.assembler; + +import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.OntologyTermDto; + +public class OntologyTermDtoAssembler { + + public static OntologyTermDto assemble(OntologyTerm ontologyTerm) { + return new OntologyTermDto(ontologyTerm.getCurie(), + ontologyTerm.getIri(), + ontologyTerm.getLabel(), + ontologyTerm.getStatus(), + ontologyTerm.getDescription(), + ontologyTerm.getCrossRefs()); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProvenanceDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProvenanceDtoAssembler.java new file mode 100644 index 0000000..efed199 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProvenanceDtoAssembler.java @@ -0,0 +1,13 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.assembler; + +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProvenanceDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.UserDto; + +public class ProvenanceDtoAssembler { + + public static ProvenanceDto assemble(Provenance provenance) { + return new ProvenanceDto(new UserDto(provenance.getUserId(), null, null), provenance.getTimestamp()); + } + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/TraitDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/TraitDtoAssembler.java new file mode 100644 index 0000000..1bd1253 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/TraitDtoAssembler.java @@ -0,0 +1,18 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.assembler; + +import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; +import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.domain.Trait; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.TraitDto; + +public class TraitDtoAssembler { + + public static TraitDto assemble(Trait trait, Mapping mapping, OntologyTerm ontologyTerm) { + return new TraitDto(trait.getId(), + trait.getName(), + MappingDtoAssembler.assemble(mapping, ontologyTerm), + trait.getNoSourceRecords(), + ProvenanceDtoAssembler.assemble(trait.getCreated()), + ProvenanceDtoAssembler.assemble(trait.getLastUpdated())); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/TraitsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/TraitsController.java new file mode 100644 index 0000000..388b00d --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/TraitsController.java @@ -0,0 +1,70 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.controller; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.http.HttpStatus; +import org.springframework.http.MediaType; +import org.springframework.web.bind.annotation.GetMapping; +import org.springframework.web.bind.annotation.RequestMapping; +import org.springframework.web.bind.annotation.ResponseStatus; +import org.springframework.web.bind.annotation.RestController; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; +import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.domain.Trait; +import uk.ac.ebi.spot.ontotools.curation.rest.assembler.TraitDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.TraitDto; +import uk.ac.ebi.spot.ontotools.curation.service.MappingService; +import uk.ac.ebi.spot.ontotools.curation.service.OntologyTermService; +import uk.ac.ebi.spot.ontotools.curation.service.TraitsService; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; + +import java.util.ArrayList; +import java.util.List; +import java.util.Map; +import java.util.stream.Collectors; + +@RestController +@RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_TRAITS) +public class TraitsController { + + private static final Logger log = LoggerFactory.getLogger(TraitsController.class); + + @Autowired + private TraitsService traitsService; + + @Autowired + private MappingService mappingService; + + @Autowired + private OntologyTermService ontologyTermService; + + /** + * GET /v1/traits + */ + @GetMapping(produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.OK) + public List getTraits() { + log.info("Request to get traits."); + List traits = traitsService.getTraits(); + List mappingIds = traits.stream().filter(trait -> trait.getCurrentMappingId() != null).map(Trait::getCurrentMappingId).collect(Collectors.toList()); + Map mappingMap = mappingService.getMappingsById(mappingIds); + + List ontoTermIds = new ArrayList<>(); + for (Mapping mapping : mappingMap.values()) { + if (!ontoTermIds.contains(mapping.getMappedTermId())) { + ontoTermIds.add(mapping.getMappedTermId()); + } + } + Map ontologyTerms = ontologyTermService.getOntologyTermsById(ontoTermIds); + + List result = new ArrayList<>(); + for (Trait trait : traits) { + result.add(TraitDtoAssembler.assemble(trait, mappingMap.get(trait.getCurrentMappingId()), ontologyTerms.get(mappingMap.get(trait.getCurrentMappingId()).getMappedTermId()))); + + } + return result; + } + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/MappingDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/MappingDto.java new file mode 100644 index 0000000..d3e17eb --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/MappingDto.java @@ -0,0 +1,49 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import javax.validation.constraints.NotNull; +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class MappingDto implements Serializable { + + private static final long serialVersionUID = -2548737672325162378L; + + @NotNull + @JsonProperty("id") + private final String id; + + @NotNull + @JsonProperty("ontologyTerm") + private final OntologyTermDto ontologyTerm; + + @NotNull + @JsonProperty("created") + private final ProvenanceDto created; + + @JsonCreator + public MappingDto(@JsonProperty("id") String id, + @JsonProperty("ontologyTerm") OntologyTermDto ontologyTerm, + @JsonProperty("created") ProvenanceDto created) { + this.id = id; + this.ontologyTerm = ontologyTerm; + this.created = created; + } + + public String getId() { + return id; + } + + public OntologyTermDto getOntologyTerm() { + return ontologyTerm; + } + + public ProvenanceDto getCreated() { + return created; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/OntologyTermDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/OntologyTermDto.java new file mode 100644 index 0000000..ba608cf --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/OntologyTermDto.java @@ -0,0 +1,77 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import javax.validation.constraints.NotNull; +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class OntologyTermDto implements Serializable { + + private static final long serialVersionUID = 714105630780606515L; + + @NotNull + @JsonProperty("curie") + private final String curie; + + @NotNull + @JsonProperty("iri") + private final String iri; + + @NotNull + @JsonProperty("label") + private final String label; + + @NotNull + @JsonProperty("status") + private final String status; + + @JsonProperty("description") + private final String description; + + @JsonProperty("crossRefs") + private final String crossRefs; + + @JsonCreator + public OntologyTermDto(@JsonProperty("curie") String curie, + @JsonProperty("iri") String iri, + @JsonProperty("label") String label, + @JsonProperty("status") String status, + @JsonProperty("description") String description, + @JsonProperty("crossRefs") String crossRefs) { + this.curie = curie; + this.iri = iri; + this.label = label; + this.status = status; + this.description = description; + this.crossRefs = crossRefs; + } + + public String getCurie() { + return curie; + } + + public String getIri() { + return iri; + } + + public String getLabel() { + return label; + } + + public String getStatus() { + return status; + } + + public String getDescription() { + return description; + } + + public String getCrossRefs() { + return crossRefs; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProvenanceDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProvenanceDto.java new file mode 100644 index 0000000..3a7da40 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProvenanceDto.java @@ -0,0 +1,46 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import com.fasterxml.jackson.databind.annotation.JsonDeserialize; +import com.fasterxml.jackson.databind.annotation.JsonSerialize; +import lombok.EqualsAndHashCode; +import org.joda.time.DateTime; +import uk.ac.ebi.spot.ontotools.curation.util.JsonJodaDateTimeDeserializer; +import uk.ac.ebi.spot.ontotools.curation.util.JsonJodaDateTimeSerializer; + +import javax.validation.constraints.NotNull; +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class ProvenanceDto implements Serializable { + + private static final long serialVersionUID = -527759108725584128L; + + @NotNull + @JsonSerialize(using = JsonJodaDateTimeSerializer.class) + @JsonProperty("timestamp") + private final DateTime timestamp; + + @NotNull + @JsonProperty("user") + private final UserDto user; + + @JsonCreator + public ProvenanceDto(@JsonProperty("user") UserDto user, + @JsonProperty("timestamp") @JsonDeserialize(using = JsonJodaDateTimeDeserializer.class) DateTime timestamp) { + this.user = user; + this.timestamp = timestamp; + } + + public DateTime getTimestamp() { + return timestamp; + } + + public UserDto getUser() { + return user; + } + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/TraitDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/TraitDto.java new file mode 100644 index 0000000..fb55eef --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/TraitDto.java @@ -0,0 +1,77 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import javax.validation.constraints.NotNull; +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class TraitDto implements Serializable { + + private static final long serialVersionUID = 714105630780606515L; + + @NotNull + @JsonProperty("id") + private final String id; + + @NotNull + @JsonProperty("name") + private final String name; + + @JsonProperty("currentMapping") + private final MappingDto currentMapping; + + @JsonProperty("noSourceRecords") + private final int noSourceRecords; + + @NotNull + @JsonProperty("created") + private final ProvenanceDto created; + + @NotNull + @JsonProperty("lastUpdated") + private final ProvenanceDto lastUpdated; + + @JsonCreator + public TraitDto(@JsonProperty("id") String id, + @JsonProperty("name") String name, + @JsonProperty("currentMapping") MappingDto currentMapping, + @JsonProperty("noSourceRecords") int noSourceRecords, + @JsonProperty("created") ProvenanceDto created, + @JsonProperty("lastUpdated") ProvenanceDto lastUpdated) { + this.id = id; + this.name = name; + this.currentMapping = currentMapping; + this.noSourceRecords = noSourceRecords; + this.created = created; + this.lastUpdated = lastUpdated; + } + + public String getId() { + return id; + } + + public String getName() { + return name; + } + + public MappingDto getCurrentMapping() { + return currentMapping; + } + + public int getNoSourceRecords() { + return noSourceRecords; + } + + public ProvenanceDto getCreated() { + return created; + } + + public ProvenanceDto getLastUpdated() { + return lastUpdated; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/UserDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/UserDto.java new file mode 100644 index 0000000..39d0065 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/UserDto.java @@ -0,0 +1,47 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import javax.validation.constraints.NotNull; +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class UserDto implements Serializable { + + private static final long serialVersionUID = 8940035463152694066L; + + @NotNull + @JsonProperty("username") + private final String username; + + @JsonProperty("email") + private final String email; + + @JsonProperty("role") + private final String role; + + @JsonCreator + public UserDto(@JsonProperty("username") String username, + @JsonProperty("email") String email, + @JsonProperty("role") String role) { + this.username = username; + this.email = email; + this.role = role; + } + + public String getUsername() { + return username; + } + + public String getEmail() { + return email; + } + + public String getRole() { + return role; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java new file mode 100644 index 0000000..3111c3d --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java @@ -0,0 +1,10 @@ +package uk.ac.ebi.spot.ontotools.curation.service; + +import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; + +import java.util.List; +import java.util.Map; + +public interface MappingService { + Map getMappingsById(List mappingIds); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingSuggestionsService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingSuggestionsService.java new file mode 100644 index 0000000..a413d3b --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingSuggestionsService.java @@ -0,0 +1,5 @@ +package uk.ac.ebi.spot.ontotools.curation.service; + +public interface MappingSuggestionsService { + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java new file mode 100644 index 0000000..65a7786 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java @@ -0,0 +1,10 @@ +package uk.ac.ebi.spot.ontotools.curation.service; + +import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; + +import java.util.List; +import java.util.Map; + +public interface OntologyTermService { + Map getOntologyTermsById(List ontoTermIds); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/TraitsService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/TraitsService.java new file mode 100644 index 0000000..e62a457 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/TraitsService.java @@ -0,0 +1,9 @@ +package uk.ac.ebi.spot.ontotools.curation.service; + +import uk.ac.ebi.spot.ontotools.curation.domain.Trait; + +import java.util.List; + +public interface TraitsService { + List getTraits(); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java new file mode 100644 index 0000000..341c76b --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java @@ -0,0 +1,33 @@ +package uk.ac.ebi.spot.ontotools.curation.service.impl; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; +import uk.ac.ebi.spot.ontotools.curation.repository.MappingRepository; +import uk.ac.ebi.spot.ontotools.curation.service.MappingService; + +import java.util.HashMap; +import java.util.List; +import java.util.Map; + +@Service +public class MappingServiceImpl implements MappingService { + + private static final Logger log = LoggerFactory.getLogger(MappingService.class); + + @Autowired + private MappingRepository mappingRepository; + + @Override + public Map getMappingsById(List mappingIds) { + log.info("Retrieving mappings for {} ids.", mappingIds.size()); + Map mappingMap = new HashMap<>(); + List mappings = mappingRepository.findByIdIn(mappingIds); + for (Mapping mapping : mappings) { + mappingMap.put(mapping.getMappedTermId(), mapping); + } + return mappingMap; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java new file mode 100644 index 0000000..d270909 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.service.impl; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.service.MappingSuggestionsService; + +@Service +public class MappingSuggestionsServiceImpl implements MappingSuggestionsService { + + private static final Logger log = LoggerFactory.getLogger(MappingSuggestionsService.class); + + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java new file mode 100644 index 0000000..96ed371 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java @@ -0,0 +1,33 @@ +package uk.ac.ebi.spot.ontotools.curation.service.impl; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.repository.OntologyTermRepository; +import uk.ac.ebi.spot.ontotools.curation.service.OntologyTermService; + +import java.util.HashMap; +import java.util.List; +import java.util.Map; + +@Service +public class OntologyTermServiceImpl implements OntologyTermService { + + private static final Logger log = LoggerFactory.getLogger(OntologyTermService.class); + + @Autowired + private OntologyTermRepository ontologyTermRepository; + + @Override + public Map getOntologyTermsById(List ontoTermIds) { + log.info("Retrieving ontology terms for {} ids.", ontoTermIds.size()); + Map mappingMap = new HashMap<>(); + List ontologyTerms = ontologyTermRepository.findByIdIn(ontoTermIds); + for (OntologyTerm ontologyTerm : ontologyTerms) { + mappingMap.put(ontologyTerm.getId(), ontologyTerm); + } + return mappingMap; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/TraitsServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/TraitsServiceImpl.java new file mode 100644 index 0000000..80247bc --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/TraitsServiceImpl.java @@ -0,0 +1,21 @@ +package uk.ac.ebi.spot.ontotools.curation.service.impl; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.domain.Trait; +import uk.ac.ebi.spot.ontotools.curation.service.TraitsService; + +import java.util.List; + +@Service +public class TraitsServiceImpl implements TraitsService { + + private static final Logger log = LoggerFactory.getLogger(TraitsService.class); + + @Override + public List getTraits() { + log.info("Request to retrieve all traits."); + return null; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/system/GeneralCommon.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/system/GeneralCommon.java new file mode 100644 index 0000000..88286a6 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/system/GeneralCommon.java @@ -0,0 +1,17 @@ +package uk.ac.ebi.spot.ontotools.curation.system; + +public class GeneralCommon { + + public static final String API_V1 = "/v1"; + + public static final String LOG_FILE_NAME = "LOG_FILE_NAME"; + + public static final String HEADER_X_AUTH = "X-Auth"; + + public static final String HEADER_JWT = "jwt"; + + public static final String DB_USER = "DB_USER"; + + public static final String DB_PASSWORD = "DB_PASSWORD"; + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/system/SystemConfigProperties.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/system/SystemConfigProperties.java new file mode 100644 index 0000000..e04a588 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/system/SystemConfigProperties.java @@ -0,0 +1,45 @@ +package uk.ac.ebi.spot.ontotools.curation.system; + +import org.springframework.beans.factory.annotation.Value; +import org.springframework.stereotype.Component; + +@Component +public class SystemConfigProperties { + + @Value("${spring.config.activate.on-profile}") + private String activeSpringProfile; + + @Value("${server.name}") + private String serverName; + + @Value("${server.port}") + private String serverPort; + + @Value("${spring.data.mongodb.uri}") + private String mongoUri; + + public String getActiveSpringProfile() { + return activeSpringProfile; + } + + public String getServerName() { + return serverName; + } + + public String getServerPort() { + return serverPort; + } + + public String getMongoUri() { + return mongoUri; + } + + public String getDbUser() { + return System.getenv(GeneralCommon.DB_USER); + } + + public String getDbPassword() { + return System.getenv(GeneralCommon.DB_PASSWORD); + } + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java new file mode 100644 index 0000000..a8affd4 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java @@ -0,0 +1,24 @@ +package uk.ac.ebi.spot.ontotools.curation.util; + +import java.util.ArrayList; +import java.util.List; + +public class CurationUtil { + + public static List sToList(String s) { + List list = new ArrayList<>(); + if (s == null) { + return list; + } + + String[] parts = s.split(","); + for (String part : parts) { + part = part.trim(); + if (!"".equals(part)) { + list.add(part); + } + } + return list; + } + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/DateTimeCommon.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/DateTimeCommon.java new file mode 100644 index 0000000..c7e40ae --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/DateTimeCommon.java @@ -0,0 +1,19 @@ +package uk.ac.ebi.spot.ontotools.curation.util; + +import org.joda.time.format.DateTimeFormatter; +import org.joda.time.format.ISODateTimeFormat; + +public class DateTimeCommon { + + private static DateTimeFormatter ISO_DATE_TIME_FORMATTER = ISODateTimeFormat.dateTime(); + + private static DateTimeFormatter ISO_DATE_FORMATTER = ISODateTimeFormat.date(); + + public static DateTimeFormatter getIsoDateTimeFormatter() { + return ISO_DATE_TIME_FORMATTER; + } + + public static DateTimeFormatter getIsoDateFormatter() { + return ISO_DATE_FORMATTER; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/JsonJodaDateTimeDeserializer.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/JsonJodaDateTimeDeserializer.java new file mode 100644 index 0000000..822bd22 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/JsonJodaDateTimeDeserializer.java @@ -0,0 +1,20 @@ +package uk.ac.ebi.spot.ontotools.curation.util; + +import com.fasterxml.jackson.core.JsonParser; +import com.fasterxml.jackson.databind.DeserializationContext; +import com.fasterxml.jackson.databind.JsonDeserializer; +import org.joda.time.DateTime; +import org.joda.time.format.DateTimeFormatter; + +import java.io.IOException; + +public class JsonJodaDateTimeDeserializer extends JsonDeserializer { + + @Override + public DateTime deserialize(JsonParser jp, DeserializationContext ctxt) throws IOException { + DateTimeFormatter isoDateTimeFormatter = DateTimeCommon.getIsoDateTimeFormatter(); + String dateValueAsString = jp.getValueAsString(); + DateTime dateTime = isoDateTimeFormatter.parseDateTime(dateValueAsString); + return dateTime; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/JsonJodaDateTimeSerializer.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/JsonJodaDateTimeSerializer.java new file mode 100644 index 0000000..f53e7c7 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/JsonJodaDateTimeSerializer.java @@ -0,0 +1,18 @@ +package uk.ac.ebi.spot.ontotools.curation.util; + +import com.fasterxml.jackson.core.JsonGenerator; +import com.fasterxml.jackson.databind.JsonSerializer; +import com.fasterxml.jackson.databind.SerializerProvider; +import org.joda.time.DateTime; +import org.joda.time.format.DateTimeFormatter; + +import java.io.IOException; + +public class JsonJodaDateTimeSerializer extends JsonSerializer { + + @Override + public void serialize(DateTime dateTime, JsonGenerator jsonGenerator, SerializerProvider serializerProvider) throws IOException { + DateTimeFormatter isoDateTimeFormatter = DateTimeCommon.getIsoDateTimeFormatter(); + jsonGenerator.writeString(isoDateTimeFormatter.print(dateTime)); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/JsonJodaLocalDateDeserializer.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/JsonJodaLocalDateDeserializer.java new file mode 100644 index 0000000..58f1df8 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/JsonJodaLocalDateDeserializer.java @@ -0,0 +1,20 @@ +package uk.ac.ebi.spot.ontotools.curation.util; + +import com.fasterxml.jackson.core.JsonParser; +import com.fasterxml.jackson.databind.DeserializationContext; +import com.fasterxml.jackson.databind.JsonDeserializer; +import org.joda.time.LocalDate; +import org.joda.time.format.DateTimeFormatter; + +import java.io.IOException; + +public class JsonJodaLocalDateDeserializer extends JsonDeserializer { + + @Override + public LocalDate deserialize(JsonParser jsonParser, DeserializationContext deserializationContext) throws IOException { + DateTimeFormatter isoDateTimeFormatter = DateTimeCommon.getIsoDateFormatter(); + String dateValueAsString = jsonParser.getValueAsString(); + LocalDate localDate = isoDateTimeFormatter.parseLocalDate(dateValueAsString); + return localDate; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/JsonJodaLocalDateSerializer.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/JsonJodaLocalDateSerializer.java new file mode 100644 index 0000000..f4b513a --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/JsonJodaLocalDateSerializer.java @@ -0,0 +1,18 @@ +package uk.ac.ebi.spot.ontotools.curation.util; + +import com.fasterxml.jackson.core.JsonGenerator; +import com.fasterxml.jackson.databind.JsonSerializer; +import com.fasterxml.jackson.databind.SerializerProvider; +import org.joda.time.LocalDate; +import org.joda.time.format.DateTimeFormatter; + +import java.io.IOException; + +public class JsonJodaLocalDateSerializer extends JsonSerializer { + + @Override + public void serialize(LocalDate localDate, JsonGenerator jsonGenerator, SerializerProvider serializerProvider) throws IOException { + DateTimeFormatter isoDateTimeFormatter = DateTimeCommon.getIsoDateFormatter(); + jsonGenerator.writeString(isoDateTimeFormatter.print(localDate)); + } +} diff --git a/src/main/resources/aap.der 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a/src/main/resources/application-dev.yml b/src/main/resources/application-dev.yml new file mode 100644 index 0000000..44223e7 --- /dev/null +++ b/src/main/resources/application-dev.yml @@ -0,0 +1,13 @@ +server: + port: 8080 + +spring: + config: + activate: + on-profile: "dev" + data: + mongodb: + uri: localhost:27017 + +ontotools-curation: + db: ontotools-curation-dev diff --git a/src/main/resources/application-prod.yml b/src/main/resources/application-prod.yml new file mode 100644 index 0000000..b68f390 --- /dev/null +++ b/src/main/resources/application-prod.yml @@ -0,0 +1,10 @@ +server: + port: 8080 + +spring: + config: + activate: + on-profile: "prod" + data: + mongodb: + uri: mongodb-hhvm-062.ebi.ac.uk:27017,mongodb-hxvm-063.ebi.ac.uk:27017/admin?replicaSet=gwasdepodevrs039 diff --git a/src/main/resources/application-sandbox.yml b/src/main/resources/application-sandbox.yml new file mode 100644 index 0000000..d231d3d --- /dev/null +++ b/src/main/resources/application-sandbox.yml @@ -0,0 +1,10 @@ +server: + port: 8080 + +spring: + config: + activate: + on-profile: "sandbox" + data: + mongodb: + uri: mongo-0.mongo.default.svc.cluster.local,mongo-1.mongo.default.svc.cluster.local,mongo-2.mongo.default.svc.cluster.local:27017 diff --git a/src/main/resources/application.yml b/src/main/resources/application.yml new file mode 100644 index 0000000..5019367 --- /dev/null +++ b/src/main/resources/application.yml @@ -0,0 +1,14 @@ +server: + name: ontotools-curation + port: 80 + +logging: + level: + org: + springframework: DEBUG + +ontotools-curation: + auth: + enabled: false + cert: aap.der + diff --git a/src/main/resources/explore.der b/src/main/resources/explore.der new file mode 100644 index 0000000000000000000000000000000000000000..88c32f8634358ef58b68e62b3d2b12bfafe4c2f7 GIT binary patch literal 871 zcmXqLVoo+_V)9@5qwPB{BO^B}gF%uZw*e;`b0`a&FjJ_v zp@0D&h{GYw?wXgLlbDxcC}bc25@8qSbWY4oD#}brPc;-Y;0K9u33IsmI{E0jI(ZuM 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+ ${log.pattern} + + + + + + + + + + + + + + + + + + + ${log.file.location}${log.file.name}-%d{yyyy-MM-dd}.%i.log + + + ${log.max.file.size} + + + + ${log.pattern} + + + + + + + + + + + + + + + + + ${log.file.location}${log.file.name}-%d{yyyy-MM-dd}.%i.log + + + ${log.max.file.size} + + + + ${log.pattern} + + + + + + + + + + + + \ No newline at end of file diff --git a/src/main/resources/logging-dev.properties b/src/main/resources/logging-dev.properties new file mode 100644 index 0000000..70cd6b5 --- /dev/null +++ b/src/main/resources/logging-dev.properties @@ -0,0 +1,3 @@ +log.max.file.size=1000MB +log.file.location=log/ +log.pattern=%d{"yyyy-MM-dd'T'HH:mm:ss.SSSXXX"} %-5level [%thread] %property{serviceName} %logger{0}: %msg%n diff --git a/src/main/resources/logging-prod.properties b/src/main/resources/logging-prod.properties new file mode 100644 index 0000000..205d55d --- /dev/null +++ b/src/main/resources/logging-prod.properties @@ -0,0 +1,3 @@ +log.max.file.size=1000MB +log.file.location=/var/log/ontotools/ +log.pattern=%d{"yyyy-MM-dd'T'HH:mm:ss.SSSXXX"} %-5level [%thread] %property{serviceName} %logger{0}: %msg%n diff --git a/src/main/resources/logging-sandbox.properties b/src/main/resources/logging-sandbox.properties new file mode 100644 index 0000000..205d55d --- /dev/null +++ b/src/main/resources/logging-sandbox.properties @@ -0,0 +1,3 @@ +log.max.file.size=1000MB +log.file.location=/var/log/ontotools/ +log.pattern=%d{"yyyy-MM-dd'T'HH:mm:ss.SSSXXX"} %-5level [%thread] %property{serviceName} %logger{0}: %msg%n From f38afcfa0bd3f58d02f58a83d70bc78a8777dbf1 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Tue, 2 Feb 2021 23:04:13 +0800 Subject: [PATCH 02/72] Added infrastructure configuration. Fixed test scaffolding. Simplified app configuration. Added auth interceptor and associated domain objects, including: User, Project and AuthToken. --- ...ontotools-curation-service-deployment.yaml | 2 +- k8chart/values.yaml | 10 +- .../config/ontotools-curation-ingress.yaml | 18 ++++ ...ontotools-curation-service-deployment.yaml | 69 ++++++++++++++ scripts/config/ontotools-ns.yml | 5 + scripts/config/ontotools-pvc.yml | 13 +++ scripts/deploy.sh | 4 + .../spot/ontotools/curation/Application.java | 8 +- .../curation/config/AuthInterceptor.java | 77 +++++++++++++++ .../curation/config/MongoConfig.java | 2 +- .../curation/config/WebMvcConfig.java | 11 +++ .../curation/constants/CurationConstants.java | 2 + .../curation/constants/IDPConstants.java | 16 ++++ .../curation/constants/ProjectRole.java | 9 ++ .../ontotools/curation/domain/Mapping.java | 2 + .../spot/ontotools/curation/domain/Trait.java | 5 +- .../curation/domain/auth/AuthToken.java | 23 +++++ .../curation/domain/auth/Project.java | 22 +++++ .../ontotools/curation/domain/auth/Role.java | 18 ++++ .../curation/domain/{ => auth}/User.java | 22 ++--- .../repository/AuthTokenRepository.java | 10 ++ .../repository/MappingRepository.java | 2 +- .../repository/ProjectRepository.java | 10 ++ .../curation/repository/UserRepository.java | 9 +- .../rest/assembler/ProjectDtoAssembler.java | 13 +++ .../rest/controller/ProjectsController.java | 48 ++++++++++ .../rest/controller/TraitsController.java | 6 +- .../curation/rest/dto/ProjectDto.java | 48 ++++++++++ .../curation/service/JWTService.java | 7 ++ .../curation/service/MappingService.java | 2 +- .../curation/service/ProjectService.java | 10 ++ .../curation/service/UserService.java | 9 ++ .../curation/service/impl/JWTServiceImpl.java | 93 +++++++++++++++++++ .../service/impl/MappingServiceImpl.java | 8 +- .../service/impl/ProjectServiceImpl.java | 32 +++++++ .../service/impl/TraitsServiceImpl.java | 7 +- .../service/impl/UserServiceImpl.java | 48 ++++++++++ .../system/SystemConfigProperties.java | 18 ++-- .../ontotools/curation/util/HeadersUtil.java | 42 +++++++++ src/main/resources/application-dev.yml | 13 --- src/main/resources/application-prod.yml | 10 -- src/main/resources/application-sandbox.yml | 10 -- src/main/resources/application.yml | 40 +++++++- .../ontotools/curation/IntegrationTest.java | 58 ++++++++++++ .../curation/TraitsControllerTest.java | 78 ++++++++++++++++ 45 files changed, 894 insertions(+), 75 deletions(-) create mode 100644 scripts/config/ontotools-curation-ingress.yaml create mode 100644 scripts/config/ontotools-curation-service-deployment.yaml create mode 100644 scripts/config/ontotools-ns.yml create mode 100644 scripts/config/ontotools-pvc.yml create mode 100755 scripts/deploy.sh create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/config/AuthInterceptor.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/IDPConstants.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/ProjectRole.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/AuthToken.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Project.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Role.java rename src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/{ => auth}/User.java (50%) create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/AuthTokenRepository.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ProjectRepository.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/JWTService.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectService.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/UserService.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/JWTServiceImpl.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/UserServiceImpl.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/util/HeadersUtil.java delete mode 100644 src/main/resources/application-dev.yml delete mode 100644 src/main/resources/application-prod.yml delete mode 100644 src/main/resources/application-sandbox.yml create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/TraitsControllerTest.java diff --git a/k8chart/templates/ontotools-curation-service-deployment.yaml b/k8chart/templates/ontotools-curation-service-deployment.yaml index ee5ae50..6bacf83 100644 --- a/k8chart/templates/ontotools-curation-service-deployment.yaml +++ b/k8chart/templates/ontotools-curation-service-deployment.yaml @@ -3,7 +3,7 @@ kind: Deployment metadata: name: {{.Values.service.name}} namespace: {{.Values.k8Namespace}} - lables: + labels: version: {{.Values.image.tag}} spec: replicas: {{.Values.replicaCount}} diff --git a/k8chart/values.yaml b/k8chart/values.yaml index 247bf45..4802f1f 100644 --- a/k8chart/values.yaml +++ b/k8chart/values.yaml @@ -19,7 +19,7 @@ image: secretsName: "" secretsKey: "" volume: - claimName: ontotools-depo-logs + claimName: ontotools-curation-logs imagePullSecrets: [] nameOverride: "" @@ -41,15 +41,15 @@ ingress: tls: [] -k8Namespace: default +k8Namespace: ontotools resources: limits: - cpu: 100m - memory: 256Mi - requests: cpu: 200m memory: 512Mi + requests: + cpu: 100m + memory: 256Mi nodeSelector: {} diff --git a/scripts/config/ontotools-curation-ingress.yaml b/scripts/config/ontotools-curation-ingress.yaml new file mode 100644 index 0000000..3efa765 --- /dev/null +++ b/scripts/config/ontotools-curation-ingress.yaml @@ -0,0 +1,18 @@ +apiVersion: extensions/v1beta1 +kind: Ingress +metadata: + name: ontotools-curation-ingress + namespace: ontotools + annotations: + nginx.ingress.kubernetes.io/rewrite-target: /$2 + nginx.ingress.kubernetes.io/ssl-redirect: "false" + nginx.ingress.kubernetes.io/proxy-body-size: "30m" +spec: + rules: + - host: + http: + paths: + - path: /ontotools/curation/api(/|$)(.*) + backend: + serviceName: ontotools-curation-service + servicePort: 8080 diff --git a/scripts/config/ontotools-curation-service-deployment.yaml b/scripts/config/ontotools-curation-service-deployment.yaml new file mode 100644 index 0000000..975b91b --- /dev/null +++ b/scripts/config/ontotools-curation-service-deployment.yaml @@ -0,0 +1,69 @@ +apiVersion: extensions/v1beta1 +kind: Deployment +metadata: + name: ontotools-curation-service + namespace: ontotools + labels: + version: latest +spec: + replicas: 1 + strategy: + type: RollingUpdate + rollingUpdate: + maxSurge: 1 + maxUnavailable: 0 + template: + metadata: + labels: + app: ontotools-curation-service + spec: + containers: + - name: ontotools-curation-service + image: "ebispot/ontotools-curation-service:latest-sandbox" + imagePullPolicy: Always + resources: + requests: + cpu: 100m + memory: 256Mi + limits: + cpu: 200m + memory: 512Mi + ports: + - name: http + containerPort: 8080 + volumeMounts: + - mountPath: "/var/log/ontotools" + name: log + env: + - name: ENVIRONMENT + value: "sandbox" + - name: XMS + value: "-Xms256m" + - name: XMX + value: "-Xms256m" + - name: LOG_FILE_NAME + value: "ontotools-curation-service" + - name: DB_USER + value: "" + - name: DB_PASSWORD + value: "" + volumes: + - name: log + persistentVolumeClaim: + claimName: ontotools-curation-logs +--- +kind: Service +apiVersion: v1 +metadata: + labels: + app: ontotools-curation-service + version: latest + name: ontotools-curation-service + namespace: ontotools +spec: + type: NodePort + ports: + - name: "application" + port: 8080 + selector: + app: ontotools-curation-service diff --git a/scripts/config/ontotools-ns.yml b/scripts/config/ontotools-ns.yml new file mode 100644 index 0000000..d846151 --- /dev/null +++ b/scripts/config/ontotools-ns.yml @@ -0,0 +1,5 @@ +--- +apiVersion: v1 +kind: Namespace +metadata: + name: ontotools diff --git a/scripts/config/ontotools-pvc.yml b/scripts/config/ontotools-pvc.yml new file mode 100644 index 0000000..70ec452 --- /dev/null +++ b/scripts/config/ontotools-pvc.yml @@ -0,0 +1,13 @@ +apiVersion: v1 +kind: PersistentVolumeClaim +metadata: + name: ontotools-curation-logs + namespace: ontotools +spec: + storageClassName: nfs-client + accessModes: + - ReadWriteOnce + resources: + requests: + storage: 1Gi + diff --git a/scripts/deploy.sh b/scripts/deploy.sh new file mode 100755 index 0000000..cc5e98d --- /dev/null +++ b/scripts/deploy.sh @@ -0,0 +1,4 @@ +#!/bin/bash + +kubectl delete deploy ontotools-curation-service -n gwas +kubectl apply -f config/ontotools-curation-service-deployment.yaml diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/Application.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/Application.java index 9feff60..62a91fa 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/Application.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/Application.java @@ -6,6 +6,8 @@ import org.springframework.beans.factory.annotation.Autowired; import org.springframework.boot.SpringApplication; import org.springframework.boot.autoconfigure.SpringBootApplication; +import org.springframework.boot.autoconfigure.data.mongo.MongoDataAutoConfiguration; +import org.springframework.boot.autoconfigure.mongo.MongoAutoConfiguration; import org.springframework.scheduling.annotation.EnableAsync; import org.springframework.scheduling.annotation.EnableScheduling; import org.springframework.web.servlet.config.annotation.WebMvcConfigurer; @@ -17,7 +19,11 @@ import java.net.InetAddress; import java.net.UnknownHostException; -@SpringBootApplication(scanBasePackages = "uk.ac.ebi.spot.ontotools") +@SpringBootApplication(scanBasePackages = "uk.ac.ebi.spot.ontotools" +// exclude = { +// MongoDataAutoConfiguration.class +// } + ) @EnableScheduling @EnableAsync public class Application implements WebMvcConfigurer { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/AuthInterceptor.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/AuthInterceptor.java new file mode 100644 index 0000000..c11c6b8 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/AuthInterceptor.java @@ -0,0 +1,77 @@ +package uk.ac.ebi.spot.ontotools.curation.config; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.web.servlet.HandlerInterceptor; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.AuthToken; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.exception.AuthorizationException; +import uk.ac.ebi.spot.ontotools.curation.repository.AuthTokenRepository; +import uk.ac.ebi.spot.ontotools.curation.service.JWTService; +import uk.ac.ebi.spot.ontotools.curation.service.UserService; +import uk.ac.ebi.spot.ontotools.curation.system.SystemConfigProperties; +import uk.ac.ebi.spot.ontotools.curation.util.HeadersUtil; + +import javax.servlet.http.HttpServletRequest; +import javax.servlet.http.HttpServletResponse; +import java.util.Optional; + +public class AuthInterceptor implements HandlerInterceptor { + + private static final Logger log = LoggerFactory.getLogger(AuthInterceptor.class); + + @Autowired + private SystemConfigProperties systemConfigProperties; + + @Autowired + private JWTService jwtService; + + @Autowired + private AuthTokenRepository authTokenRepository; + + @Autowired + private UserService userService; + + @Override + public boolean preHandle(HttpServletRequest httpServletRequest, + HttpServletResponse httpServletResponse, + Object o) { + if (!"/error".equals(httpServletRequest.getRequestURI())) { + log.info("Authentication enabled: {}", systemConfigProperties.isAuthEnabled()); + if (!systemConfigProperties.isAuthEnabled()) { + return true; + } + + String jwt = HeadersUtil.extractJWT(httpServletRequest); + + if (jwt == null) { + log.error("Authorization failure. JWT token is null."); + throw new AuthorizationException("Authorization failure. JWT token is null."); + } + if ("".equals(jwt)) { + log.error("Authorization failure. JWT token is null."); + throw new AuthorizationException("Authorization failure. JWT token is null."); + } + + Optional authTokenOptional = authTokenRepository.findByToken(jwt); + log.info("Token is privileged: {}", authTokenOptional.isPresent()); + if (authTokenOptional.isPresent()) { + User user = userService.findByEmail(authTokenOptional.get().getEmail()); + log.info("User found: {} - {}", user.getName(), user.getEmail()); + return true; + } + + try { + User user = jwtService.extractUser(jwt); + log.info("User found: {} - {}", user.getName(), user.getEmail()); + return true; + } catch (Exception e) { + log.error("Authorization failure: {}", e.getMessage(), e); + throw new AuthorizationException(e.getMessage()); + } + } + + return false; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/MongoConfig.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/MongoConfig.java index 060fa43..0ffa4ed 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/MongoConfig.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/MongoConfig.java @@ -18,7 +18,7 @@ public class MongoConfig { @Configuration @EnableMongoRepositories(basePackages = {"uk.ac.ebi.spot.ontotools.curation.repository"}) @EnableTransactionManagement - @Profile({"sandbox"}) + @Profile({"dev","sandbox"}) public static class MongoConfigDevSandbox extends AbstractMongoClientConfiguration { @Autowired diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/WebMvcConfig.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/WebMvcConfig.java index 6d01bfe..07122ee 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/WebMvcConfig.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/WebMvcConfig.java @@ -7,6 +7,7 @@ import org.springframework.web.multipart.commons.CommonsMultipartResolver; import org.springframework.web.multipart.support.MultipartFilter; import org.springframework.web.servlet.config.annotation.CorsRegistry; +import org.springframework.web.servlet.config.annotation.InterceptorRegistry; import org.springframework.web.servlet.config.annotation.WebMvcConfigurer; import java.util.concurrent.Executor; @@ -17,6 +18,16 @@ public class WebMvcConfig { @Configuration public static class GeneralWebMvcConfig implements WebMvcConfigurer { + @Bean + public AuthInterceptor authInterceptor() { + return new AuthInterceptor(); + } + + @Override + public void addInterceptors(InterceptorRegistry registry) { + registry.addInterceptor(authInterceptor()); + } + @Bean public Executor taskExecutor() { return new SimpleAsyncTaskExecutor(); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java index 8697663..c319ac2 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java @@ -2,6 +2,8 @@ public class CurationConstants { + public static final String API_PROJECTS = "/projects"; + public static final String API_TRAITS = "/traits"; public static final String API_MAPPINGS = "/mappings"; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/IDPConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/IDPConstants.java new file mode 100644 index 0000000..bb871e8 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/IDPConstants.java @@ -0,0 +1,16 @@ +package uk.ac.ebi.spot.ontotools.curation.constants; + +public class IDPConstants { + + public static final String AUTH_HEADER = "Authorization"; + + public static final String AUTH_BEARER = "Bearer"; + + public static final String JWT_TOKEN = "jwt"; + + public static final String COOKIE_ACCESSTOKEN = "accessToken"; + + public static final String JWT_EMAIL = "email"; + + public static final String JWT_NAME = "name"; +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/ProjectRole.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/ProjectRole.java new file mode 100644 index 0000000..4bd8d51 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/ProjectRole.java @@ -0,0 +1,9 @@ +package uk.ac.ebi.spot.ontotools.curation.constants; + +public enum ProjectRole { + + ADMIN, + CONTRIBUTOR, + CONSUMER + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Mapping.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Mapping.java index f3e637c..f631e70 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Mapping.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Mapping.java @@ -3,6 +3,7 @@ import lombok.Getter; import lombok.Setter; import org.springframework.data.annotation.Id; +import org.springframework.data.mongodb.core.index.Indexed; import org.springframework.data.mongodb.core.mapping.Document; @Document(collection = "mappings") @@ -13,6 +14,7 @@ public class Mapping { @Id private String id; + @Indexed private String mappedTraitId; private String mappedTermId; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Trait.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Trait.java index b767e67..49ecd12 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Trait.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Trait.java @@ -15,8 +15,6 @@ public class Trait { private String name; - private String currentMappingId; - private int noSourceRecords; private Provenance created; @@ -27,9 +25,8 @@ public Trait() { } - public Trait(String name, String currentMappingId, Provenance created) { + public Trait(String name, Provenance created) { this.name = name; - this.currentMappingId = currentMappingId; this.noSourceRecords = 0; this.created = created; this.lastUpdated = created; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/AuthToken.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/AuthToken.java new file mode 100644 index 0000000..a1d3593 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/AuthToken.java @@ -0,0 +1,23 @@ +package uk.ac.ebi.spot.ontotools.curation.domain.auth; + +import lombok.Getter; +import lombok.NoArgsConstructor; +import lombok.Setter; +import org.springframework.data.annotation.Id; +import org.springframework.data.mongodb.core.index.Indexed; +import org.springframework.data.mongodb.core.mapping.Document; + +@Document(collection = "tokens") +@Getter +@Setter +@NoArgsConstructor +public class AuthToken { + + @Id + private String id; + + @Indexed + private String token; + + private String email; +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Project.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Project.java new file mode 100644 index 0000000..925bc1b --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Project.java @@ -0,0 +1,22 @@ +package uk.ac.ebi.spot.ontotools.curation.domain.auth; + +import lombok.Getter; +import lombok.NoArgsConstructor; +import lombok.Setter; +import org.springframework.data.annotation.Id; +import org.springframework.data.mongodb.core.mapping.Document; + +@Document(collection = "projects") +@NoArgsConstructor +@Getter +@Setter +public class Project { + + @Id + private String id; + + private String name; + + private String description; + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Role.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Role.java new file mode 100644 index 0000000..f6bd364 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Role.java @@ -0,0 +1,18 @@ +package uk.ac.ebi.spot.ontotools.curation.domain.auth; + +import lombok.AllArgsConstructor; +import lombok.Getter; +import lombok.NoArgsConstructor; +import lombok.Setter; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; + +@NoArgsConstructor +@AllArgsConstructor +@Getter +@Setter +public class Role { + + private String project; + + private ProjectRole role; +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/User.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/User.java similarity index 50% rename from src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/User.java rename to src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/User.java index 9234dc0..0335e82 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/User.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/User.java @@ -1,31 +1,29 @@ -package uk.ac.ebi.spot.ontotools.curation.domain; +package uk.ac.ebi.spot.ontotools.curation.domain.auth; import lombok.Getter; +import lombok.NoArgsConstructor; import lombok.Setter; import org.springframework.data.annotation.Id; +import org.springframework.data.mongodb.core.index.Indexed; import org.springframework.data.mongodb.core.mapping.Document; +import java.util.List; + @Document(collection = "users") @Getter @Setter +@NoArgsConstructor public class User { @Id private String id; - private String username; + private String name; + @Indexed private String email; - private String role; - - public User() { - - } + private List roles; - public User(String username, String email, String role) { - this.username = username; - this.email = email; - this.role = role; - } + private boolean superUser; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/AuthTokenRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/AuthTokenRepository.java new file mode 100644 index 0000000..99ff102 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/AuthTokenRepository.java @@ -0,0 +1,10 @@ +package uk.ac.ebi.spot.ontotools.curation.repository; + +import org.springframework.data.mongodb.repository.MongoRepository; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.AuthToken; + +import java.util.Optional; + +public interface AuthTokenRepository extends MongoRepository { + Optional findByToken(String jwt); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java index 2920795..8a05bf0 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java @@ -6,5 +6,5 @@ import java.util.List; public interface MappingRepository extends MongoRepository { - List findByIdIn(List mappingIds); + List findByMappedTraitIdIn(List traitIds); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ProjectRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ProjectRepository.java new file mode 100644 index 0000000..f113a21 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ProjectRepository.java @@ -0,0 +1,10 @@ +package uk.ac.ebi.spot.ontotools.curation.repository; + +import org.springframework.data.mongodb.repository.MongoRepository; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; + +import java.util.List; + +public interface ProjectRepository extends MongoRepository { + List findByIdIn(List projectIds); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/UserRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/UserRepository.java index e8f277a..44077a3 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/UserRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/UserRepository.java @@ -1,7 +1,14 @@ package uk.ac.ebi.spot.ontotools.curation.repository; import org.springframework.data.mongodb.repository.MongoRepository; -import uk.ac.ebi.spot.ontotools.curation.domain.User; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; + +import java.util.List; +import java.util.Optional; public interface UserRepository extends MongoRepository { + + Optional findByEmailIgnoreCase(String email); + + List findBySuperUser(boolean superUser); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java new file mode 100644 index 0000000..d629b6e --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java @@ -0,0 +1,13 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.assembler; + +import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; + +public class ProjectDtoAssembler { + + public static ProjectDto assemble(Project project) { + return new ProjectDto(project.getId(), + project.getName(), + project.getDescription()); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java new file mode 100644 index 0000000..ceb822a --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java @@ -0,0 +1,48 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.controller; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.http.HttpStatus; +import org.springframework.http.MediaType; +import org.springframework.web.bind.annotation.GetMapping; +import org.springframework.web.bind.annotation.RequestMapping; +import org.springframework.web.bind.annotation.ResponseStatus; +import org.springframework.web.bind.annotation.RestController; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.rest.assembler.ProjectDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.service.JWTService; +import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; +import uk.ac.ebi.spot.ontotools.curation.util.HeadersUtil; + +import javax.servlet.http.HttpServletRequest; +import java.util.List; +import java.util.stream.Collectors; + +@RestController +@RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) +public class ProjectsController { + + private static final Logger log = LoggerFactory.getLogger(ProjectsController.class); + + @Autowired + private JWTService jwtService; + + @Autowired + private ProjectService projectService; + + @GetMapping(produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.OK) + public List getProjects(HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to retrieve projects.", user.getName()); + + List projects = projectService.retrieveProjects(user); + log.info("Found {} projects for user: {}", projects.size(), user.getName()); + return projects.stream().map(ProjectDtoAssembler::assemble).collect(Collectors.toList()); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/TraitsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/TraitsController.java index 388b00d..996b3da 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/TraitsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/TraitsController.java @@ -48,8 +48,8 @@ public class TraitsController { public List getTraits() { log.info("Request to get traits."); List traits = traitsService.getTraits(); - List mappingIds = traits.stream().filter(trait -> trait.getCurrentMappingId() != null).map(Trait::getCurrentMappingId).collect(Collectors.toList()); - Map mappingMap = mappingService.getMappingsById(mappingIds); + List traitIds = traits.stream().map(Trait::getId).collect(Collectors.toList()); + Map mappingMap = mappingService.getMappingsByTrait(traitIds); List ontoTermIds = new ArrayList<>(); for (Mapping mapping : mappingMap.values()) { @@ -61,7 +61,7 @@ public List getTraits() { List result = new ArrayList<>(); for (Trait trait : traits) { - result.add(TraitDtoAssembler.assemble(trait, mappingMap.get(trait.getCurrentMappingId()), ontologyTerms.get(mappingMap.get(trait.getCurrentMappingId()).getMappedTermId()))); + result.add(TraitDtoAssembler.assemble(trait, mappingMap.get(trait.getId()), ontologyTerms.get(mappingMap.get(trait.getId()).getMappedTermId()))); } return result; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDto.java new file mode 100644 index 0000000..603e2af --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDto.java @@ -0,0 +1,48 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import javax.validation.constraints.NotNull; +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class ProjectDto implements Serializable { + + private static final long serialVersionUID = -4397444940725422977L; + + @NotNull + @JsonProperty("id") + private final String id; + + @NotNull + @JsonProperty("name") + private final String name; + + @JsonProperty("description") + private final String description; + + @JsonCreator + public ProjectDto(@JsonProperty("id") String id, + @JsonProperty("name") String name, + @JsonProperty("description") String description) { + this.id = id; + this.name = name; + this.description = description; + } + + public String getId() { + return id; + } + + public String getName() { + return name; + } + + public String getDescription() { + return description; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/JWTService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/JWTService.java new file mode 100644 index 0000000..83f5d7b --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/JWTService.java @@ -0,0 +1,7 @@ +package uk.ac.ebi.spot.ontotools.curation.service; + +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; + +public interface JWTService { + User extractUser(String jwt); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java index 3111c3d..a61ccdb 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java @@ -6,5 +6,5 @@ import java.util.Map; public interface MappingService { - Map getMappingsById(List mappingIds); + Map getMappingsByTrait(List traitIds); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectService.java new file mode 100644 index 0000000..7cde698 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectService.java @@ -0,0 +1,10 @@ +package uk.ac.ebi.spot.ontotools.curation.service; + +import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; + +import java.util.List; + +public interface ProjectService { + List retrieveProjects(User user); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/UserService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/UserService.java new file mode 100644 index 0000000..adf1901 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/UserService.java @@ -0,0 +1,9 @@ +package uk.ac.ebi.spot.ontotools.curation.service; + +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; + +public interface UserService { + User findByEmail(String email); + + User findRandomSuperUser(); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/JWTServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/JWTServiceImpl.java new file mode 100644 index 0000000..e58a034 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/JWTServiceImpl.java @@ -0,0 +1,93 @@ +package uk.ac.ebi.spot.ontotools.curation.service.impl; + +import io.jsonwebtoken.Claims; +import io.jsonwebtoken.Jwts; +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.core.io.DefaultResourceLoader; +import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.exception.AuthorizationException; +import uk.ac.ebi.spot.ontotools.curation.service.JWTService; +import uk.ac.ebi.spot.ontotools.curation.service.UserService; +import uk.ac.ebi.spot.ontotools.curation.system.SystemConfigProperties; + +import javax.annotation.PostConstruct; +import java.io.InputStream; +import java.security.PublicKey; +import java.security.cert.CertificateFactory; +import java.security.cert.X509Certificate; + +@Service +public class JWTServiceImpl implements JWTService { + + private static final Logger log = LoggerFactory.getLogger(JWTService.class); + + @Autowired + private SystemConfigProperties systemConfigProperties; + + @Autowired + private UserService userService; + + private PublicKey verifyingKey; + + @PostConstruct + public void initialize() { + log.info("Initializing auth cert. Auth enabled: {}", systemConfigProperties.isAuthEnabled()); + if (systemConfigProperties.isAuthEnabled()) { + String certPath = systemConfigProperties.getCertPath(); + log.info("Using cert: {}", certPath); + if (certPath == null) { + log.error("Unable to initialize cert. Path is NULL."); + } else { + try { + InputStream inputStream = new DefaultResourceLoader().getResource(certPath).getInputStream(); + final CertificateFactory certificateFactory = CertificateFactory.getInstance("X.509"); + final X509Certificate certificate = (X509Certificate) certificateFactory.generateCertificate(inputStream); + verifyingKey = certificate.getPublicKey(); + } catch (Exception e) { + log.error("Unable to initialize cert: {}", e.getMessage(), e); + } + } + } + } + + @Override + public User extractUser(String jwt) { + log.info("Auth enabled: {}", systemConfigProperties.isAuthEnabled()); + if (systemConfigProperties.isAuthEnabled()) { + if (jwt == null) { + log.error("Unauthorised access. JWT missing."); + throw new AuthorizationException("Unauthorised access. JWT missing."); + } + + Claims jwtClaims; + try { + jwtClaims = Jwts.parser().setSigningKey(verifyingKey).parseClaimsJws(jwt).getBody(); + } catch (Exception e) { + log.error("Unable to parse JWT: {}", e.getMessage(), e); + throw new AuthorizationException("Unauthorised access: " + e.getMessage()); + } + String userReference = jwtClaims.getSubject(); + String name = null; + String email = null; + if (jwtClaims.get(IDPConstants.JWT_EMAIL) != null) { + email = (String) jwtClaims.get(IDPConstants.JWT_EMAIL); + } + if (jwtClaims.get(IDPConstants.JWT_NAME) != null) { + name = (String) jwtClaims.get(IDPConstants.JWT_NAME); + } + if (name == null || email == null || userReference == null) { + log.error("Unable to parse JWT: Name, email or userReference missing."); + throw new AuthorizationException("Unauthorised access: Name, email or userReference missing."); + } + + User user = userService.findByEmail(email); + log.info("Found user: {} | {}", user.getName(), user.getEmail()); + return user; + } + return userService.findRandomSuperUser(); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java index 341c76b..1add962 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java @@ -21,12 +21,12 @@ public class MappingServiceImpl implements MappingService { private MappingRepository mappingRepository; @Override - public Map getMappingsById(List mappingIds) { - log.info("Retrieving mappings for {} ids.", mappingIds.size()); + public Map getMappingsByTrait(List traitIds) { + log.info("Retrieving mappings for {} ids.", traitIds.size()); Map mappingMap = new HashMap<>(); - List mappings = mappingRepository.findByIdIn(mappingIds); + List mappings = mappingRepository.findByMappedTraitIdIn(traitIds); for (Mapping mapping : mappings) { - mappingMap.put(mapping.getMappedTermId(), mapping); + mappingMap.put(mapping.getMappedTraitId(), mapping); } return mappingMap; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java new file mode 100644 index 0000000..3773ef6 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java @@ -0,0 +1,32 @@ +package uk.ac.ebi.spot.ontotools.curation.service.impl; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.Role; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.repository.ProjectRepository; +import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; + +import java.util.List; +import java.util.stream.Collectors; + +@Service +public class ProjectServiceImpl implements ProjectService { + + private static final Logger log = LoggerFactory.getLogger(ProjectService.class); + + @Autowired + private ProjectRepository projectRepository; + + @Override + public List retrieveProjects(User user) { + log.info("Retrieving projects for user: {}", user.getEmail()); + List projectIds = user.getRoles().stream().map(Role::getProject).collect(Collectors.toList()); + List projects = user.isSuperUser() ? projectRepository.findAll() : projectRepository.findByIdIn(projectIds); + log.info("Found {} projects: ", projects.size()); + return projects; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/TraitsServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/TraitsServiceImpl.java index 80247bc..b665d9e 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/TraitsServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/TraitsServiceImpl.java @@ -2,8 +2,10 @@ import org.slf4j.Logger; import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; import org.springframework.stereotype.Service; import uk.ac.ebi.spot.ontotools.curation.domain.Trait; +import uk.ac.ebi.spot.ontotools.curation.repository.TraitRepository; import uk.ac.ebi.spot.ontotools.curation.service.TraitsService; import java.util.List; @@ -13,9 +15,12 @@ public class TraitsServiceImpl implements TraitsService { private static final Logger log = LoggerFactory.getLogger(TraitsService.class); + @Autowired + private TraitRepository traitRepository; + @Override public List getTraits() { log.info("Request to retrieve all traits."); - return null; + return traitRepository.findAll(); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/UserServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/UserServiceImpl.java new file mode 100644 index 0000000..bd5dde0 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/UserServiceImpl.java @@ -0,0 +1,48 @@ +package uk.ac.ebi.spot.ontotools.curation.service.impl; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.exception.EntityNotFoundException; +import uk.ac.ebi.spot.ontotools.curation.repository.UserRepository; +import uk.ac.ebi.spot.ontotools.curation.service.UserService; + +import java.util.List; +import java.util.Optional; + +@Service +public class UserServiceImpl implements UserService { + + private static final Logger log = LoggerFactory.getLogger(UserService.class); + + @Autowired + private UserRepository userRepository; + + @Override + public User findByEmail(String email) { + log.info("Retrieving user: {}", email); + + Optional userOptional = userRepository.findByEmailIgnoreCase(email); + if (!userOptional.isPresent()) { + log.error("Unable to find user with email: {}", email); + throw new EntityNotFoundException("Unable to find user with email: " + email); + } + + return userOptional.get(); + } + + @Override + public User findRandomSuperUser() { + log.info("Retrieving random super user ..."); + List superUsers = userRepository.findBySuperUser(true); + if (superUsers.isEmpty()) { + log.error("Unable to find any super users!"); + throw new EntityNotFoundException("Unable to find any super users!"); + } + + log.info("Returning user: {}", superUsers.get(0).getEmail()); + return superUsers.get(0); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/system/SystemConfigProperties.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/system/SystemConfigProperties.java index e04a588..6619c85 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/system/SystemConfigProperties.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/system/SystemConfigProperties.java @@ -6,9 +6,6 @@ @Component public class SystemConfigProperties { - @Value("${spring.config.activate.on-profile}") - private String activeSpringProfile; - @Value("${server.name}") private String serverName; @@ -18,9 +15,11 @@ public class SystemConfigProperties { @Value("${spring.data.mongodb.uri}") private String mongoUri; - public String getActiveSpringProfile() { - return activeSpringProfile; - } + @Value("${ontotools-curation.auth.enabled}") + private boolean authEnabled; + + @Value("${ontotools-curation.auth.cert:#{NULL}}") + private String certPath; public String getServerName() { return serverName; @@ -42,4 +41,11 @@ public String getDbPassword() { return System.getenv(GeneralCommon.DB_PASSWORD); } + public boolean isAuthEnabled() { + return authEnabled; + } + + public String getCertPath() { + return certPath; + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/HeadersUtil.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/HeadersUtil.java new file mode 100644 index 0000000..308e3a6 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/HeadersUtil.java @@ -0,0 +1,42 @@ +package uk.ac.ebi.spot.ontotools.curation.util; + +import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; + +import javax.servlet.http.Cookie; +import javax.servlet.http.HttpServletRequest; + +public class HeadersUtil { + + public static String extractJWT(HttpServletRequest httpServletRequest) { + String authHeader = httpServletRequest.getHeader(IDPConstants.AUTH_HEADER); + if (authHeader == null) { + String jwt = httpServletRequest.getHeader(IDPConstants.JWT_TOKEN); + if (jwt == null && httpServletRequest.getCookies() != null) { + for (Cookie cookie : httpServletRequest.getCookies()) { + if (cookie.getName().equalsIgnoreCase(IDPConstants.COOKIE_ACCESSTOKEN)) { + jwt = cookie.getValue(); + break; + } + if (cookie.getName().equalsIgnoreCase(IDPConstants.JWT_TOKEN)) { + jwt = cookie.getValue(); + break; + } + } + } + return jwt; + } else { + String[] parts = authHeader.split(" "); + if (parts.length == 2) { + if (parts[0].equalsIgnoreCase(IDPConstants.AUTH_BEARER)) { + if ((parts[1] == null) || parts[1].equalsIgnoreCase("null")) { + return null; + } + + return parts[1]; + } + } + } + + return null; + } +} diff --git a/src/main/resources/application-dev.yml b/src/main/resources/application-dev.yml deleted file mode 100644 index 44223e7..0000000 --- a/src/main/resources/application-dev.yml +++ /dev/null @@ -1,13 +0,0 @@ -server: - port: 8080 - -spring: - config: - activate: - on-profile: "dev" - data: - mongodb: - uri: localhost:27017 - -ontotools-curation: - db: ontotools-curation-dev diff --git a/src/main/resources/application-prod.yml b/src/main/resources/application-prod.yml deleted file mode 100644 index b68f390..0000000 --- a/src/main/resources/application-prod.yml +++ /dev/null @@ -1,10 +0,0 @@ -server: - port: 8080 - -spring: - config: - activate: - on-profile: "prod" - data: - mongodb: - uri: mongodb-hhvm-062.ebi.ac.uk:27017,mongodb-hxvm-063.ebi.ac.uk:27017/admin?replicaSet=gwasdepodevrs039 diff --git a/src/main/resources/application-sandbox.yml b/src/main/resources/application-sandbox.yml deleted file mode 100644 index d231d3d..0000000 --- a/src/main/resources/application-sandbox.yml +++ /dev/null @@ -1,10 +0,0 @@ -server: - port: 8080 - -spring: - config: - activate: - on-profile: "sandbox" - data: - mongodb: - uri: mongo-0.mongo.default.svc.cluster.local,mongo-1.mongo.default.svc.cluster.local,mongo-2.mongo.default.svc.cluster.local:27017 diff --git a/src/main/resources/application.yml b/src/main/resources/application.yml index 5019367..b6a5af1 100644 --- a/src/main/resources/application.yml +++ b/src/main/resources/application.yml @@ -1,6 +1,6 @@ server: name: ontotools-curation - port: 80 + port: 8080 logging: level: @@ -12,3 +12,41 @@ ontotools-curation: enabled: false cert: aap.der +--- + +spring: + config: + activate: + on-profile: "dev" + data: + mongodb: + uri: localhost:27017 + +ontotools-curation: + db: ontotools-curation-dev + +--- + +spring: + config: + activate: + on-profile: "sandbox" + data: + mongodb: + uri: mongo-0.mongo.default.svc.cluster.local,mongo-1.mongo.default.svc.cluster.local,mongo-2.mongo.default.svc.cluster.local:27017 + +ontotools-curation: + db: ontotools-curation-sandbox + +--- + +spring: + config: + activate: + on-profile: "prod" + data: + mongodb: + uri: mongodb-hhvm-062.ebi.ac.uk:27017,mongodb-hxvm-063.ebi.ac.uk:27017/admin?replicaSet=gwasdepodevrs039 + +ontotools-curation: + db: ontotools-curation diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java new file mode 100644 index 0000000..bc0814e --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -0,0 +1,58 @@ +package uk.ac.ebi.spot.ontotools.curation; + +import com.fasterxml.jackson.databind.ObjectMapper; +import org.junit.Before; +import org.junit.runner.RunWith; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.boot.test.context.SpringBootTest; +import org.springframework.context.annotation.Bean; +import org.springframework.context.annotation.Configuration; +import org.springframework.core.task.SyncTaskExecutor; +import org.springframework.core.task.TaskExecutor; +import org.springframework.data.mongodb.core.MongoTemplate; +import org.springframework.test.context.ContextConfiguration; +import org.springframework.test.context.junit4.SpringJUnit4ClassRunner; +import org.springframework.test.web.servlet.MockMvc; +import org.springframework.test.web.servlet.setup.MockMvcBuilders; +import org.springframework.web.context.WebApplicationContext; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.repository.UserRepository; + +@RunWith(SpringJUnit4ClassRunner.class) +@SpringBootTest +@ContextConfiguration(classes = {Application.class}) +public abstract class IntegrationTest { + + @Configuration + public static class MockTaskExecutorConfig { + + @Bean + public TaskExecutor taskExecutor() { + return new SyncTaskExecutor(); + } + } + + @Autowired + private MongoTemplate mongoTemplate; + + @Autowired + private WebApplicationContext webApplicationContext; + + @Autowired + private UserRepository userRepository; + + protected MockMvc mockMvc; + + protected ObjectMapper mapper; + + protected User user; + + @Before + public void setup() { + mongoTemplate.getDb().drop(); + mapper = new ObjectMapper(); + mockMvc = MockMvcBuilders.webAppContextSetup(webApplicationContext).build(); + + user = userRepository.insert(new User("test_user", "test@test.com", "USER")); + } +} diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/TraitsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/TraitsControllerTest.java new file mode 100644 index 0000000..98870ce --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/TraitsControllerTest.java @@ -0,0 +1,78 @@ +package uk.ac.ebi.spot.ontotools.curation; + +import com.fasterxml.jackson.core.type.TypeReference; +import org.apache.commons.lang3.RandomStringUtils; +import org.joda.time.DateTime; +import org.junit.Test; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.http.MediaType; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; +import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; +import uk.ac.ebi.spot.ontotools.curation.domain.Trait; +import uk.ac.ebi.spot.ontotools.curation.repository.MappingRepository; +import uk.ac.ebi.spot.ontotools.curation.repository.OntologyTermRepository; +import uk.ac.ebi.spot.ontotools.curation.repository.TraitRepository; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.TraitDto; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; + +import java.util.List; + +import static org.junit.Assert.assertEquals; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.get; +import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; + +public class TraitsControllerTest extends IntegrationTest { + + @Autowired + private TraitRepository traitRepository; + + @Autowired + private OntologyTermRepository ontologyTermRepository; + + @Autowired + private MappingRepository mappingRepository; + + private OntologyTerm ontologyTerm; + + private Trait trait; + + @Override + public void setup() { + super.setup(); + Provenance provenance = new Provenance(super.user.getId(), DateTime.now()); + + ontologyTerm = ontologyTermRepository.insert(new OntologyTerm(RandomStringUtils.randomAlphabetic(10), + RandomStringUtils.randomAlphabetic(10), + RandomStringUtils.randomAlphabetic(10), + RandomStringUtils.randomAlphabetic(10), + RandomStringUtils.randomAlphabetic(10), + RandomStringUtils.randomAlphabetic(10))); + trait = traitRepository.insert(new Trait("test", provenance)); + mappingRepository.insert(new Mapping(trait.getId(), ontologyTerm.getId(), provenance)); + } + + /** + * GET /v1/traits + */ + @Test + public void shouldGetTraits() throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_TRAITS; + + String response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON)) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + List actual = mapper.readValue(response, new TypeReference>() { + }); + assertEquals(1, actual.size()); + TraitDto traitDto = actual.get(0); + + assertEquals(trait.getName(), traitDto.getName()); + assertEquals(ontologyTerm.getCurie(), traitDto.getCurrentMapping().getOntologyTerm().getCurie()); + } +} From a6644f630e696fc51730b7ab75523e51d2e98ad6 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Wed, 3 Feb 2021 22:58:44 +0800 Subject: [PATCH 03/72] Added base services and tests for Zooma, OLS and Oxo. --- pom.xml | 7 ++ .../config/RestInteractionConfig.java | 58 ++++++++++++++ .../curation/config/RestTemplateConfig.java | 27 +++++++ .../constants/RestInteractionConstants.java | 30 ++++++++ .../curation/domain/auth/Project.java | 5 ++ .../curation/rest/dto/ols/OLSEmbeddedDto.java | 30 ++++++++ .../curation/rest/dto/ols/OLSResponseDto.java | 29 +++++++ .../curation/rest/dto/ols/OLSTermDto.java | 56 ++++++++++++++ .../curation/rest/dto/oxo/OXOEmbeddedDto.java | 30 ++++++++ .../rest/dto/oxo/OXOMappingResponseDto.java | 38 +++++++++ .../curation/rest/dto/oxo/OXORequestDto.java | 46 +++++++++++ .../curation/rest/dto/oxo/OXOResponseDto.java | 29 +++++++ .../rest/dto/oxo/OXOSearchResultDto.java | 30 ++++++++ .../rest/dto/zooma/ZoomaResponseDto.java | 39 ++++++++++ .../curation/service/OLSService.java | 10 +++ .../curation/service/OXOService.java | 10 +++ .../curation/service/ZoomaService.java | 9 +++ .../curation/service/impl/OLSServiceImpl.java | 62 +++++++++++++++ .../curation/service/impl/OXOServiceImpl.java | 60 +++++++++++++++ .../service/impl/ZoomaServiceImpl.java | 77 +++++++++++++++++++ .../curation/util/HttpEntityBuilder.java | 53 +++++++++++++ src/main/resources/application.yml | 13 ++++ .../ontotools/curation/IntegrationTest.java | 6 +- .../ontotools/curation/OLSServiceTest.java | 31 ++++++++ .../ontotools/curation/OXOServiceTest.java | 36 +++++++++ .../ontotools/curation/ZoomaServiceTest.java | 46 +++++++++++ 26 files changed, 866 insertions(+), 1 deletion(-) create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/config/RestInteractionConfig.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/config/RestTemplateConfig.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/RestInteractionConstants.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSEmbeddedDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSResponseDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSTermDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOEmbeddedDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOMappingResponseDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXORequestDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOResponseDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOSearchResultDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/zooma/ZoomaResponseDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OLSService.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OXOService.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ZoomaService.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OLSServiceImpl.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OXOServiceImpl.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ZoomaServiceImpl.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/util/HttpEntityBuilder.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/OLSServiceTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/OXOServiceTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/ZoomaServiceTest.java diff --git a/pom.xml b/pom.xml index 7babef9..bce90dc 100644 --- a/pom.xml +++ b/pom.xml @@ -33,6 +33,7 @@ 1.4 2.8.0 3.11 + 4.5.13 0.9.1 1.3 1.2.3 @@ -100,6 +101,12 @@ org.springframework.boot spring-boot-starter-thymeleaf + + org.apache.httpcomponents + httpclient + ${httpclient.version} + + joda-time joda-time diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/RestInteractionConfig.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/RestInteractionConfig.java new file mode 100644 index 0000000..275c022 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/RestInteractionConfig.java @@ -0,0 +1,58 @@ +package uk.ac.ebi.spot.ontotools.curation.config; + +import org.springframework.beans.factory.annotation.Value; +import org.springframework.stereotype.Component; +import uk.ac.ebi.spot.ontotools.curation.util.HttpEntityBuilder; + +@Component +public class RestInteractionConfig { + + @Value("${ontotools.zooma.base}") + private String zoomaBase; + + @Value("${ontotools.zooma.endpoints.annotate}") + private String zoomaAnnotateEndpoint; + + @Value("${ontotools.oxo.base}") + private String oxoBase; + + @Value("${ontotools.oxo.mapping-distance}") + private int oxoMappingDistance; + + @Value("${ontotools.ols.base}") + private String olsBase; + + @Value("${ontotools.ols.endpoints.ontologies}") + private String olsOntologiesEndpoint; + + @Value("${server.name}") + private String serverName; + + public HttpEntityBuilder httpEntity() { + return new HttpEntityBuilder(serverName); + } + + public String getZoomaBase() { + return zoomaBase; + } + + public String getZoomaAnnotateEndpoint() { + return zoomaBase + zoomaAnnotateEndpoint; + } + + public String getOxoBase() { + return oxoBase; + } + + public int getOxoMappingDistance() { + return oxoMappingDistance; + } + + public String getOlsBase() { + return olsBase; + } + + public String getOlsOntologiesEndpoint() { + return olsBase + olsOntologiesEndpoint; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/RestTemplateConfig.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/RestTemplateConfig.java new file mode 100644 index 0000000..5f18087 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/RestTemplateConfig.java @@ -0,0 +1,27 @@ +package uk.ac.ebi.spot.ontotools.curation.config; + +import org.apache.http.conn.ssl.NoopHostnameVerifier; +import org.apache.http.impl.client.CloseableHttpClient; +import org.apache.http.impl.client.HttpClients; +import org.springframework.context.annotation.Bean; +import org.springframework.context.annotation.Configuration; +import org.springframework.http.client.HttpComponentsClientHttpRequestFactory; +import org.springframework.web.client.RestTemplate; + +@Configuration +public class RestTemplateConfig { + + @Bean + public RestTemplate restTemplate() { + CloseableHttpClient httpClient = + HttpClients.custom().setSSLHostnameVerifier(new NoopHostnameVerifier()).build(); + HttpComponentsClientHttpRequestFactory requestFactory = + new HttpComponentsClientHttpRequestFactory(); + requestFactory.setHttpClient(httpClient); + requestFactory.setReadTimeout(40000); + requestFactory.setConnectTimeout(40000); + requestFactory.setConnectionRequestTimeout(40000); + return new RestTemplate(requestFactory); + } + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/RestInteractionConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/RestInteractionConstants.java new file mode 100644 index 0000000..99b236e --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/RestInteractionConstants.java @@ -0,0 +1,30 @@ +package uk.ac.ebi.spot.ontotools.curation.constants; + +import org.apache.commons.lang3.StringUtils; + +import java.util.List; + +public class RestInteractionConstants { + + public static final String ZOOMA_PROPERTY_VALUE = "propertyValue"; + + public static final String ZOOMA_FILTER = "filter"; + + public static final String ZOOMA_FILTER_VALUE_REQUIRED = "required"; + + public static final String ZOOMA_FILTER_VALUE_ONTOLOGIES = "ontologies"; + + public static final String OLS_TERMS = "/terms"; + + public static final String OLS_IDTYPE_IRI = "iri"; + + public static String zoomaFilterValueFromList(List datasources, List ontologies) { + if (datasources != null && !datasources.isEmpty()) { + return ZOOMA_FILTER_VALUE_REQUIRED + ":[" + StringUtils.join(datasources, ",") + "]"; + } + if (ontologies != null && !ontologies.isEmpty()) { + return ZOOMA_FILTER_VALUE_REQUIRED + ":[none]," + ZOOMA_FILTER_VALUE_ONTOLOGIES + ":[" + StringUtils.join(ontologies, ",") + "]"; + } + return ""; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Project.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Project.java index 925bc1b..6a5df74 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Project.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Project.java @@ -6,6 +6,8 @@ import org.springframework.data.annotation.Id; import org.springframework.data.mongodb.core.mapping.Document; +import java.util.List; + @Document(collection = "projects") @NoArgsConstructor @Getter @@ -19,4 +21,7 @@ public class Project { private String description; + private List datasources; + + private List ontologies; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSEmbeddedDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSEmbeddedDto.java new file mode 100644 index 0000000..6cbdebb --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSEmbeddedDto.java @@ -0,0 +1,30 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.ols; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonIgnoreProperties; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import java.io.Serializable; +import java.util.List; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +@JsonIgnoreProperties(ignoreUnknown = true) +public final class OLSEmbeddedDto implements Serializable { + + private static final long serialVersionUID = -2333575143636379574L; + + @JsonProperty("terms") + private final List terms; + + @JsonCreator + public OLSEmbeddedDto(@JsonProperty("terms") List terms) { + this.terms = terms; + } + + public List getTerms() { + return terms; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSResponseDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSResponseDto.java new file mode 100644 index 0000000..8e67d9e --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSResponseDto.java @@ -0,0 +1,29 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.ols; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonIgnoreProperties; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +@JsonIgnoreProperties(ignoreUnknown = true) +public final class OLSResponseDto implements Serializable { + + private static final long serialVersionUID = 1823555008334670305L; + + @JsonProperty("_embedded") + private final OLSEmbeddedDto embedded; + + @JsonCreator + public OLSResponseDto(@JsonProperty("_embedded") OLSEmbeddedDto embedded) { + this.embedded = embedded; + } + + public OLSEmbeddedDto getEmbedded() { + return embedded; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSTermDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSTermDto.java new file mode 100644 index 0000000..ddd7400 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSTermDto.java @@ -0,0 +1,56 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.ols; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonIgnoreProperties; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +@JsonIgnoreProperties(ignoreUnknown = true) +public final class OLSTermDto implements Serializable { + + private static final long serialVersionUID = -6048583493585168328L; + + @JsonProperty("iri") + private final String iri; + + @JsonProperty("obo_id") + private final String oboId; + + @JsonProperty("label") + private final String label; + + @JsonProperty("is_obsolete") + private final Boolean obsolete; + + @JsonCreator + public OLSTermDto(@JsonProperty("iri") String iri, + @JsonProperty("obo_id") String oboId, + @JsonProperty("label") String label, + @JsonProperty("is_obsolete") Boolean obsolete) { + this.iri = iri; + this.oboId = oboId; + this.label = label; + this.obsolete = obsolete; + } + + public String getIri() { + return iri; + } + + public String getOboId() { + return oboId; + } + + public String getLabel() { + return label; + } + + public Boolean getObsolete() { + return obsolete; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOEmbeddedDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOEmbeddedDto.java new file mode 100644 index 0000000..054d61d --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOEmbeddedDto.java @@ -0,0 +1,30 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.oxo; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonIgnoreProperties; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import java.io.Serializable; +import java.util.List; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +@JsonIgnoreProperties(ignoreUnknown = true) +public final class OXOEmbeddedDto implements Serializable { + + private static final long serialVersionUID = -9198144318907033616L; + + @JsonProperty("searchResults") + private final List searchResults; + + @JsonCreator + public OXOEmbeddedDto(@JsonProperty("searchResults") List searchResults) { + this.searchResults = searchResults; + } + + public List getSearchResults() { + return searchResults; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOMappingResponseDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOMappingResponseDto.java new file mode 100644 index 0000000..8528dd6 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOMappingResponseDto.java @@ -0,0 +1,38 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.oxo; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonIgnoreProperties; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +@JsonIgnoreProperties(ignoreUnknown = true) +public final class OXOMappingResponseDto implements Serializable { + + private static final long serialVersionUID = -9198144318907033616L; + + @JsonProperty("curie") + private final String curie; + + @JsonProperty("label") + private final String label; + + @JsonCreator + public OXOMappingResponseDto(@JsonProperty("curie") String curie, + @JsonProperty("label") String label) { + this.curie = curie; + this.label = label; + } + + public String getCurie() { + return curie; + } + + public String getLabel() { + return label; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXORequestDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXORequestDto.java new file mode 100644 index 0000000..61415a8 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXORequestDto.java @@ -0,0 +1,46 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.oxo; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import java.io.Serializable; +import java.util.List; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class OXORequestDto implements Serializable { + + private static final long serialVersionUID = -9198144318907033616L; + + @JsonProperty("ids") + private final List ids; + + @JsonProperty("mappingTarget") + private final List mappingTarget; + + @JsonProperty("distance") + private final int distance; + + @JsonCreator + public OXORequestDto(@JsonProperty("ids") List ids, + @JsonProperty("mappingTarget") List mappingTarget, + @JsonProperty("distance") int distance) { + this.ids = ids; + this.mappingTarget = mappingTarget; + this.distance = distance; + } + + public List getIds() { + return ids; + } + + public List getMappingTarget() { + return mappingTarget; + } + + public int getDistance() { + return distance; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOResponseDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOResponseDto.java new file mode 100644 index 0000000..1a1de23 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOResponseDto.java @@ -0,0 +1,29 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.oxo; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonIgnoreProperties; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +@JsonIgnoreProperties(ignoreUnknown = true) +public final class OXOResponseDto implements Serializable { + + private static final long serialVersionUID = -9198144318907033616L; + + @JsonProperty("_embedded") + private final OXOEmbeddedDto embedded; + + @JsonCreator + public OXOResponseDto(@JsonProperty("_embedded") OXOEmbeddedDto embedded) { + this.embedded = embedded; + } + + public OXOEmbeddedDto getEmbedded() { + return embedded; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOSearchResultDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOSearchResultDto.java new file mode 100644 index 0000000..b78352d --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOSearchResultDto.java @@ -0,0 +1,30 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.oxo; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonIgnoreProperties; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import java.io.Serializable; +import java.util.List; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +@JsonIgnoreProperties(ignoreUnknown = true) +public final class OXOSearchResultDto implements Serializable { + + private static final long serialVersionUID = -9198144318907033616L; + + @JsonProperty("mappingResponseList") + private final List mappingResponse; + + @JsonCreator + public OXOSearchResultDto(@JsonProperty("mappingResponseList") List mappingResponse) { + this.mappingResponse = mappingResponse; + } + + public List getMappingResponse() { + return mappingResponse; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/zooma/ZoomaResponseDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/zooma/ZoomaResponseDto.java new file mode 100644 index 0000000..bdd8ead --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/zooma/ZoomaResponseDto.java @@ -0,0 +1,39 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.zooma; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonIgnoreProperties; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import java.io.Serializable; +import java.util.List; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +@JsonIgnoreProperties(ignoreUnknown = true) +public final class ZoomaResponseDto implements Serializable { + + private static final long serialVersionUID = 5688769708230750868L; + + @JsonProperty("semanticTags") + private final List semanticTags; + + @JsonProperty("confidence") + private final String confidence; + + @JsonCreator + public ZoomaResponseDto(@JsonProperty("semanticTags") List semanticTags, + @JsonProperty("confidence") String confidence) { + this.semanticTags = semanticTags; + this.confidence = confidence; + } + + public List getSemanticTags() { + return semanticTags; + } + + public String getConfidence() { + return confidence; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OLSService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OLSService.java new file mode 100644 index 0000000..f040e05 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OLSService.java @@ -0,0 +1,10 @@ +package uk.ac.ebi.spot.ontotools.curation.service; + +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSTermDto; + +import java.util.List; + +public interface OLSService { + + List retrieveTerms(String ontologyId, String identifierValue); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OXOService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OXOService.java new file mode 100644 index 0000000..54605fc --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OXOService.java @@ -0,0 +1,10 @@ +package uk.ac.ebi.spot.ontotools.curation.service; + +import uk.ac.ebi.spot.ontotools.curation.rest.dto.oxo.OXOMappingResponseDto; + +import java.util.List; + +public interface OXOService { + + List findMapping(List ids, List ontologies); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ZoomaService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ZoomaService.java new file mode 100644 index 0000000..ddd468f --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ZoomaService.java @@ -0,0 +1,9 @@ +package uk.ac.ebi.spot.ontotools.curation.service; + +import java.util.List; +import java.util.Map; + +public interface ZoomaService { + + Map> annotate(String entityValue, List datasources, List ontologies); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OLSServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OLSServiceImpl.java new file mode 100644 index 0000000..e1ba7dc --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OLSServiceImpl.java @@ -0,0 +1,62 @@ +package uk.ac.ebi.spot.ontotools.curation.service.impl; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.core.ParameterizedTypeReference; +import org.springframework.http.HttpEntity; +import org.springframework.http.HttpMethod; +import org.springframework.http.HttpStatus; +import org.springframework.http.ResponseEntity; +import org.springframework.stereotype.Service; +import org.springframework.web.client.RestTemplate; +import org.springframework.web.util.UriComponentsBuilder; +import uk.ac.ebi.spot.ontotools.curation.config.RestInteractionConfig; +import uk.ac.ebi.spot.ontotools.curation.constants.RestInteractionConstants; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSResponseDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSTermDto; +import uk.ac.ebi.spot.ontotools.curation.service.OLSService; + +import java.util.ArrayList; +import java.util.List; + +@Service +public class OLSServiceImpl implements OLSService { + + private static final Logger log = LoggerFactory.getLogger(OLSService.class); + + @Autowired + private RestInteractionConfig restInteractionConfig; + + @Autowired + private RestTemplate restTemplate; + + public List retrieveTerms(String ontologyId, String identifierValue) { + log.info("Calling OLS: {} - {}", ontologyId, identifierValue); + String base = restInteractionConfig.getOlsOntologiesEndpoint() + "/" + ontologyId + RestInteractionConstants.OLS_TERMS; + UriComponentsBuilder uriBuilder = UriComponentsBuilder.fromHttpUrl(base) + .queryParam(RestInteractionConstants.OLS_IDTYPE_IRI, identifierValue); + String endpoint = uriBuilder.build().toUriString(); + + try { + HttpEntity httpEntity = restInteractionConfig.httpEntity().build(); + ResponseEntity response = + restTemplate.exchange(endpoint, + HttpMethod.GET, httpEntity, + new ParameterizedTypeReference() { + }); + + if (response.getStatusCode().equals(HttpStatus.OK)) { + log.info("[{}] OLS: received {} terms.", identifierValue, response.getBody().getEmbedded().getTerms().size()); + return response.getBody().getEmbedded().getTerms(); + } + if (response.getStatusCode().equals(HttpStatus.NOT_FOUND)) { + log.info("[{}] OLS: Term not found.", identifierValue); + } + } catch (Exception e) { + log.error("Unable to call OLS: {}", e.getMessage(), e); + } + return new ArrayList<>(); + } + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OXOServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OXOServiceImpl.java new file mode 100644 index 0000000..d86375e --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OXOServiceImpl.java @@ -0,0 +1,60 @@ +package uk.ac.ebi.spot.ontotools.curation.service.impl; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.core.ParameterizedTypeReference; +import org.springframework.http.HttpEntity; +import org.springframework.http.HttpMethod; +import org.springframework.http.HttpStatus; +import org.springframework.http.ResponseEntity; +import org.springframework.stereotype.Service; +import org.springframework.web.client.RestTemplate; +import uk.ac.ebi.spot.ontotools.curation.config.RestInteractionConfig; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.oxo.OXOMappingResponseDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.oxo.OXORequestDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.oxo.OXOResponseDto; +import uk.ac.ebi.spot.ontotools.curation.service.OLSService; +import uk.ac.ebi.spot.ontotools.curation.service.OXOService; + +import java.util.ArrayList; +import java.util.List; + +@Service +public class OXOServiceImpl implements OXOService { + + + private static final Logger log = LoggerFactory.getLogger(OLSService.class); + + @Autowired + private RestInteractionConfig restInteractionConfig; + + @Autowired + private RestTemplate restTemplate; + + public List findMapping(List ids, List ontologies) { + log.info("Calling OXO: {} - {}", ids, ontologies); + + try { + HttpEntity httpEntity = restInteractionConfig.httpEntity() + .withJsonBody(new OXORequestDto(ids, ontologies, restInteractionConfig.getOxoMappingDistance())) + .build(); + ResponseEntity response = + restTemplate.exchange(restInteractionConfig.getOxoBase(), + HttpMethod.POST, httpEntity, + new ParameterizedTypeReference() { + }); + + if (response.getStatusCode().equals(HttpStatus.OK)) { + log.info("[{}] OXO: received {} terms.", ids, response.getBody().getEmbedded().getSearchResults().size()); + if (!response.getBody().getEmbedded().getSearchResults().isEmpty() && + response.getBody().getEmbedded().getSearchResults().get(0).getMappingResponse() != null) { + return response.getBody().getEmbedded().getSearchResults().get(0).getMappingResponse(); + } + } + } catch (Exception e) { + log.error("Unable to call OXO: {}", e.getMessage(), e); + } + return new ArrayList<>(); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ZoomaServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ZoomaServiceImpl.java new file mode 100644 index 0000000..f2cc5bd --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ZoomaServiceImpl.java @@ -0,0 +1,77 @@ +package uk.ac.ebi.spot.ontotools.curation.service.impl; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.core.ParameterizedTypeReference; +import org.springframework.http.HttpEntity; +import org.springframework.http.HttpMethod; +import org.springframework.http.HttpStatus; +import org.springframework.http.ResponseEntity; +import org.springframework.stereotype.Service; +import org.springframework.web.client.RestTemplate; +import org.springframework.web.util.UriComponentsBuilder; +import uk.ac.ebi.spot.ontotools.curation.config.RestInteractionConfig; +import uk.ac.ebi.spot.ontotools.curation.constants.RestInteractionConstants; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.zooma.ZoomaResponseDto; +import uk.ac.ebi.spot.ontotools.curation.service.ZoomaService; + +import java.io.UnsupportedEncodingException; +import java.net.URLEncoder; +import java.nio.charset.StandardCharsets; +import java.util.ArrayList; +import java.util.HashMap; +import java.util.List; +import java.util.Map; + +@Service +public class ZoomaServiceImpl implements ZoomaService { + + private static final Logger log = LoggerFactory.getLogger(ZoomaService.class); + + @Autowired + private RestInteractionConfig restInteractionConfig; + + @Autowired + private RestTemplate restTemplate; + + public Map> annotate(String entityValue, List datasources, List ontologies) { + log.info("Calling Zooma for entity value: {}", entityValue); + Map> suggestionsMap = new HashMap<>(); + String encodedString; + try { + encodedString = URLEncoder.encode(entityValue, StandardCharsets.UTF_8.toString()); + } catch (UnsupportedEncodingException e) { + log.error("Unable to encode string: {} - {}", entityValue, e.getMessage(), e); + return suggestionsMap; + } + UriComponentsBuilder uriBuilder = UriComponentsBuilder.fromHttpUrl(restInteractionConfig.getZoomaAnnotateEndpoint()) + .queryParam(RestInteractionConstants.ZOOMA_PROPERTY_VALUE, encodedString) + .queryParam(RestInteractionConstants.ZOOMA_FILTER, RestInteractionConstants.zoomaFilterValueFromList(datasources, ontologies)); + String endpoint = uriBuilder.build().toUriString(); + + try { + HttpEntity httpEntity = restInteractionConfig.httpEntity().build(); + ResponseEntity> response = + restTemplate.exchange(endpoint, + HttpMethod.GET, httpEntity, + new ParameterizedTypeReference>() { + }); + + if (response.getStatusCode().equals(HttpStatus.OK)) { + log.info("[{}] Zooma: received {} suggestions.", entityValue, response.getBody().size()); + for (ZoomaResponseDto zoomaResponseDto : response.getBody()) { + if (zoomaResponseDto.getConfidence() != null && !zoomaResponseDto.getSemanticTags().isEmpty()) { + List suggestionsList = suggestionsMap.containsKey(zoomaResponseDto.getConfidence()) ? suggestionsMap.get(zoomaResponseDto.getConfidence()) : new ArrayList<>(); + suggestionsList.addAll(zoomaResponseDto.getSemanticTags()); + suggestionsMap.put(zoomaResponseDto.getConfidence(), suggestionsList); + } + } + } + } catch (Exception e) { + log.error("Unable to call Zooma: {}", e.getMessage(), e); + } + return suggestionsMap; + } + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/HttpEntityBuilder.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/HttpEntityBuilder.java new file mode 100644 index 0000000..fc52d31 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/HttpEntityBuilder.java @@ -0,0 +1,53 @@ +package uk.ac.ebi.spot.ontotools.curation.util; + +import org.springframework.http.HttpEntity; +import org.springframework.http.HttpHeaders; +import org.springframework.http.MediaType; + +import java.util.Map; + +public class HttpEntityBuilder { + + private Object body; + + private MediaType contentType; + + private HttpHeaders headers; + + public HttpEntityBuilder(String serverName) { + this.headers = new HttpHeaders(); + } + + public HttpEntityBuilder withHeaders(Map headerMap) { + + headerMap.entrySet().stream() + .forEach(entry -> headers.set(entry.getKey(), entry.getValue())); + return this; + } + + public HttpEntityBuilder withJsonBody(Object body) { + this.body = body; + this.contentType = MediaType.APPLICATION_JSON; + return this; + } + + public HttpEntityBuilder withStringBody(String body) { + this.body = body; + this.contentType = MediaType.TEXT_PLAIN; + return this; + } + + public HttpEntityBuilder withMultipartBody(Object body) { + this.body = body; + this.contentType = MediaType.MULTIPART_FORM_DATA; + return this; + } + + public HttpEntity build() { + if (body != null) { + headers.setContentType(contentType); + } + + return new HttpEntity(body, headers); + } +} diff --git a/src/main/resources/application.yml b/src/main/resources/application.yml index b6a5af1..e5fa638 100644 --- a/src/main/resources/application.yml +++ b/src/main/resources/application.yml @@ -12,6 +12,19 @@ ontotools-curation: enabled: false cert: aap.der +ontotools: + zooma: + base: http://www.ebi.ac.uk/spot/zooma/v2/api + endpoints: + annotate: /services/annotate + oxo: + base: https://www.ebi.ac.uk/spot/oxo/api/search?size=5000 + mapping-distance: 2 + ols: + base: https://www.ebi.ac.uk/ols/api + endpoints: + ontologies: /ontologies + --- spring: diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index bc0814e..7d2defd 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -53,6 +53,10 @@ public void setup() { mapper = new ObjectMapper(); mockMvc = MockMvcBuilders.webAppContextSetup(webApplicationContext).build(); - user = userRepository.insert(new User("test_user", "test@test.com", "USER")); + user = new User(); + user.setName("Test User"); + user.setEmail("test@test.comt"); + user.setSuperUser(true); + user = userRepository.insert(user); } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OLSServiceTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OLSServiceTest.java new file mode 100644 index 0000000..a5dd904 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OLSServiceTest.java @@ -0,0 +1,31 @@ +package uk.ac.ebi.spot.ontotools.curation; + +import org.junit.Test; +import org.springframework.beans.factory.annotation.Autowired; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSTermDto; +import uk.ac.ebi.spot.ontotools.curation.service.OLSService; + +import java.util.List; + +import static org.junit.Assert.assertEquals; +import static org.junit.Assert.assertFalse; + +public class OLSServiceTest extends IntegrationTest { + + @Autowired + private OLSService olsService; + + @Test + public void shouldRetrieveTerms() { + String ontoId = "ordo"; + String termId = "http://www.orpha.net/ORDO/Orphanet_15"; + + List terms = olsService.retrieveTerms(ontoId, termId); + assertEquals(1, terms.size()); + assertEquals(termId, terms.get(0).getIri()); + assertEquals("Achondroplasia", terms.get(0).getLabel()); + assertEquals("Orphanet:15", terms.get(0).getOboId()); + assertFalse(terms.get(0).getObsolete()); + } + +} diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OXOServiceTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OXOServiceTest.java new file mode 100644 index 0000000..eb1074f --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OXOServiceTest.java @@ -0,0 +1,36 @@ +package uk.ac.ebi.spot.ontotools.curation; + +import org.junit.Test; +import org.springframework.beans.factory.annotation.Autowired; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.oxo.OXOMappingResponseDto; +import uk.ac.ebi.spot.ontotools.curation.service.OXOService; + +import java.util.ArrayList; +import java.util.Arrays; +import java.util.List; +import java.util.stream.Collectors; + +import static org.junit.Assert.assertEquals; +import static org.junit.Assert.assertTrue; + +public class OXOServiceTest extends IntegrationTest { + + @Autowired + private OXOService oxoService; + + @Test + public void shouldRetrieveTerms() { + String termId = "http://www.orpha.net/ORDO/Orphanet_15"; + List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "Orphanet"}); + + + List terms = oxoService.findMapping(Arrays.asList(new String[]{termId}), ontologies); + assertEquals(3, terms.size()); + + List curies = terms.stream().map(OXOMappingResponseDto::getCurie).collect(Collectors.toList()); + assertTrue(curies.contains("MONDO:0007793")); + assertTrue(curies.contains("MONDO:0007037")); + assertTrue(curies.contains("MONDO:0014658")); + } + +} diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ZoomaServiceTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ZoomaServiceTest.java new file mode 100644 index 0000000..5011634 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ZoomaServiceTest.java @@ -0,0 +1,46 @@ +package uk.ac.ebi.spot.ontotools.curation; + +import org.junit.Test; +import org.springframework.beans.factory.annotation.Autowired; +import uk.ac.ebi.spot.ontotools.curation.service.ZoomaService; + +import java.util.Arrays; +import java.util.List; +import java.util.Map; + +import static junit.framework.TestCase.assertTrue; +import static org.junit.Assert.assertEquals; + +public class ZoomaServiceTest extends IntegrationTest { + + @Autowired + private ZoomaService zoomaService; + + @Test + public void shouldAnnotateDatasources() { + String entity = "achondroplasia"; + List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); + + Map> annotationResults = zoomaService.annotate(entity, datasources, null); + assertEquals(1, annotationResults.size()); + String key = annotationResults.keySet().iterator().next(); + assertEquals("GOOD", key); + assertEquals(1, annotationResults.get(key).size()); + assertEquals("http://www.orpha.net/ORDO/Orphanet_15", annotationResults.get(key).get(0)); + + } + + @Test + public void shouldAnnotateOntologies() { + String entity = "achondroplasia"; + List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo"}); + + Map> annotationResults = zoomaService.annotate(entity, null, ontologies); + assertEquals(1, annotationResults.size()); + String key = annotationResults.keySet().iterator().next(); + assertEquals("MEDIUM", key); + assertEquals(2, annotationResults.get(key).size()); + assertTrue(annotationResults.get(key).contains("http://www.orpha.net/ORDO/Orphanet_15")); + assertTrue(annotationResults.get(key).contains("http://purl.obolibrary.org/obo/MONDO_0007037")); + } +} From ac7b9d0f9094c95fbcf0a90f1f702f611bb35dc8 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Thu, 4 Feb 2021 23:40:54 +0800 Subject: [PATCH 04/72] Added support for Projects and Sources. WIP: Mapping suggestions. --- .../curation/config/AuthInterceptor.java | 10 +- .../config/ExceptionHandlerAdvice.java | 10 +- .../curation/constants/CurationConstants.java | 4 + .../curation/constants/MappingStatus.java | 15 ++ .../curation/constants/SourceType.java | 8 + .../ontotools/curation/domain/Entity.java | 30 ++++ .../ontotools/curation/domain/Source.java | 46 ++++++ .../curation/domain/auth/AuthToken.java | 4 +- .../curation/domain/auth/Project.java | 5 + .../ontotools/curation/domain/auth/Role.java | 2 +- .../ontotools/curation/domain/auth/User.java | 2 + .../exception/AuthenticationException.java | 8 + .../curation/repository/EntityRepository.java | 11 ++ .../curation/repository/SourceRepository.java | 14 ++ .../rest/assembler/MappingDtoAssembler.java | 6 - .../rest/assembler/ProjectDtoAssembler.java | 30 +++- .../assembler/ProvenanceDtoAssembler.java | 9 +- .../rest/assembler/RoleDtoAssembler.java | 11 ++ .../rest/assembler/SourceDtoAssembler.java | 46 ++++++ .../rest/assembler/TraitDtoAssembler.java | 18 --- .../rest/assembler/UserDtoAssembler.java | 17 +++ .../rest/controller/ProjectsController.java | 68 ++++++++- .../rest/controller/SourcesController.java | 100 ++++++++++++ .../rest/controller/TraitsController.java | 70 --------- .../curation/rest/dto/ProjectCreationDto.java | 57 +++++++ .../curation/rest/dto/ProjectDto.java | 32 +++- .../ontotools/curation/rest/dto/RoleDto.java | 36 +++++ .../curation/rest/dto/SourceCreationDto.java | 57 +++++++ .../curation/rest/dto/SourceDto.java | 83 ++++++++++ .../ontotools/curation/rest/dto/UserDto.java | 36 +++-- .../curation/service/EntityService.java | 7 + .../curation/service/JWTService.java | 2 + .../curation/service/MappingService.java | 3 +- .../curation/service/ProjectService.java | 10 ++ .../curation/service/SourceService.java | 13 ++ .../curation/service/TraitsService.java | 9 -- .../curation/service/UserService.java | 6 + .../service/impl/EntityServiceImpl.java | 26 ++++ .../curation/service/impl/JWTServiceImpl.java | 28 +++- .../service/impl/MappingServiceImpl.java | 75 +++++++-- .../service/impl/ProjectServiceImpl.java | 100 +++++++++++- .../service/impl/SourceServiceImpl.java | 50 ++++++ .../service/impl/TraitsServiceImpl.java | 26 ---- .../service/impl/UserServiceImpl.java | 36 +++++ .../ontotools/curation/util/CurationUtil.java | 10 ++ src/main/resources/application.yml | 2 +- .../ontotools/curation/IntegrationTest.java | 59 +++++++- .../curation/ProjectsControllerTest.java | 143 ++++++++++++++++++ .../curation/SourcesControllerTest.java | 107 +++++++++++++ .../curation/TraitsControllerTest.java | 78 ---------- 50 files changed, 1367 insertions(+), 268 deletions(-) create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/MappingStatus.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/SourceType.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Entity.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Source.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/exception/AuthenticationException.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/SourceRepository.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/RoleDtoAssembler.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/SourceDtoAssembler.java delete mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/TraitDtoAssembler.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/UserDtoAssembler.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java delete mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/TraitsController.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectCreationDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/RoleDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/SourceCreationDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/SourceDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/SourceService.java delete mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/TraitsService.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/SourceServiceImpl.java delete mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/TraitsServiceImpl.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/SourcesControllerTest.java delete mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/TraitsControllerTest.java diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/AuthInterceptor.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/AuthInterceptor.java index c11c6b8..3966870 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/AuthInterceptor.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/AuthInterceptor.java @@ -6,7 +6,7 @@ import org.springframework.web.servlet.HandlerInterceptor; import uk.ac.ebi.spot.ontotools.curation.domain.auth.AuthToken; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; -import uk.ac.ebi.spot.ontotools.curation.exception.AuthorizationException; +import uk.ac.ebi.spot.ontotools.curation.exception.AuthenticationException; import uk.ac.ebi.spot.ontotools.curation.repository.AuthTokenRepository; import uk.ac.ebi.spot.ontotools.curation.service.JWTService; import uk.ac.ebi.spot.ontotools.curation.service.UserService; @@ -47,11 +47,11 @@ public boolean preHandle(HttpServletRequest httpServletRequest, if (jwt == null) { log.error("Authorization failure. JWT token is null."); - throw new AuthorizationException("Authorization failure. JWT token is null."); + throw new AuthenticationException("Authorization failure. JWT token is null."); } if ("".equals(jwt)) { log.error("Authorization failure. JWT token is null."); - throw new AuthorizationException("Authorization failure. JWT token is null."); + throw new AuthenticationException("Authorization failure. JWT token is null."); } Optional authTokenOptional = authTokenRepository.findByToken(jwt); @@ -63,12 +63,12 @@ public boolean preHandle(HttpServletRequest httpServletRequest, } try { - User user = jwtService.extractUser(jwt); + User user = jwtService.extractUserSlim(jwt); log.info("User found: {} - {}", user.getName(), user.getEmail()); return true; } catch (Exception e) { log.error("Authorization failure: {}", e.getMessage(), e); - throw new AuthorizationException(e.getMessage()); + throw new AuthenticationException(e.getMessage()); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/ExceptionHandlerAdvice.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/ExceptionHandlerAdvice.java index c51eafd..3dd1d72 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/ExceptionHandlerAdvice.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/ExceptionHandlerAdvice.java @@ -7,17 +7,25 @@ import org.springframework.web.bind.annotation.ControllerAdvice; import org.springframework.web.bind.annotation.ExceptionHandler; import org.springframework.web.bind.annotation.RestController; +import uk.ac.ebi.spot.ontotools.curation.exception.AuthenticationException; import uk.ac.ebi.spot.ontotools.curation.exception.AuthorizationException; import uk.ac.ebi.spot.ontotools.curation.exception.EntityNotFoundException; @ControllerAdvice(annotations = RestController.class) public class ExceptionHandlerAdvice { + @ExceptionHandler(AuthenticationException.class) + public ResponseEntity handleAuthenticationException(AuthenticationException e) { + HttpHeaders headers = new HttpHeaders(); + headers.setContentType(MediaType.TEXT_PLAIN); + return new ResponseEntity<>(e.getMessage(), headers, HttpStatus.UNAUTHORIZED); + } + @ExceptionHandler(AuthorizationException.class) public ResponseEntity handleAuthorizationException(AuthorizationException e) { HttpHeaders headers = new HttpHeaders(); headers.setContentType(MediaType.TEXT_PLAIN); - return new ResponseEntity<>(e.getMessage(), headers, HttpStatus.UNAUTHORIZED); + return new ResponseEntity<>(e.getMessage(), headers, HttpStatus.FORBIDDEN); } @ExceptionHandler(EntityNotFoundException.class) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java index c319ac2..24835cf 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java @@ -4,9 +4,13 @@ public class CurationConstants { public static final String API_PROJECTS = "/projects"; + public static final String API_SOURCES = "/sources"; + public static final String API_TRAITS = "/traits"; public static final String API_MAPPINGS = "/mappings"; public static final String API_SUGGESTIONS = "/mapping-suggestions"; + + public static final String ZOOMA_CONFIDENCE_HIGH = "HIGH"; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/MappingStatus.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/MappingStatus.java new file mode 100644 index 0000000..eb873fd --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/MappingStatus.java @@ -0,0 +1,15 @@ +package uk.ac.ebi.spot.ontotools.curation.constants; + +public enum MappingStatus { + + CURRENT, + UNMAPPED, + OBSOLETE, + DELETED, + NEEDS_IMPORT, + AWAITING_IMPORT, + NEEDS_CREATION, + AWAITING_CREATION, + AWAITING_REVIEW + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/SourceType.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/SourceType.java new file mode 100644 index 0000000..5fa2307 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/SourceType.java @@ -0,0 +1,8 @@ +package uk.ac.ebi.spot.ontotools.curation.constants; + +public enum SourceType { + + LOCAL, + REMOTE + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Entity.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Entity.java new file mode 100644 index 0000000..c97ac68 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Entity.java @@ -0,0 +1,30 @@ +package uk.ac.ebi.spot.ontotools.curation.domain; + +import lombok.AllArgsConstructor; +import lombok.Getter; +import lombok.NoArgsConstructor; +import lombok.Setter; +import org.springframework.data.annotation.Id; +import org.springframework.data.mongodb.core.index.Indexed; +import org.springframework.data.mongodb.core.mapping.Document; +import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; + +@Document(collection = "mappings") +@Getter +@Setter +@NoArgsConstructor +@AllArgsConstructor +public class Entity { + + @Id + private String id; + + private String name; + + @Indexed + private String sourceId; + + private Provenance created; + + private MappingStatus mappingStatus; +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Source.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Source.java new file mode 100644 index 0000000..8a666bd --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Source.java @@ -0,0 +1,46 @@ +package uk.ac.ebi.spot.ontotools.curation.domain; + +import lombok.AllArgsConstructor; +import lombok.Getter; +import lombok.NoArgsConstructor; +import lombok.Setter; +import org.springframework.data.annotation.Id; +import org.springframework.data.mongodb.core.index.CompoundIndex; +import org.springframework.data.mongodb.core.index.CompoundIndexes; +import org.springframework.data.mongodb.core.index.Indexed; +import org.springframework.data.mongodb.core.mapping.Document; + +@Document(collection = "sources") +@NoArgsConstructor +@AllArgsConstructor +@Getter +@Setter +@CompoundIndexes({@CompoundIndex(name = "pid_arch", def = "{'projectId': 1, 'archived': 1}"), + @CompoundIndex(name = "id_pid_arch", def = "{'id': 1, 'projectId': 1, 'archived': 1}")}) +public class Source { + + @Id + private String id; + + private String name; + + private String description; + + private String uri; + + private String type; + + private Provenance created; + + private Provenance lastUpdated; + + @Indexed + private String projectId; + + private String originalId; + + @Indexed + private boolean archived; + + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/AuthToken.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/AuthToken.java index a1d3593..f701b3e 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/AuthToken.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/AuthToken.java @@ -1,7 +1,7 @@ package uk.ac.ebi.spot.ontotools.curation.domain.auth; +import lombok.AllArgsConstructor; import lombok.Getter; -import lombok.NoArgsConstructor; import lombok.Setter; import org.springframework.data.annotation.Id; import org.springframework.data.mongodb.core.index.Indexed; @@ -10,7 +10,7 @@ @Document(collection = "tokens") @Getter @Setter -@NoArgsConstructor +@AllArgsConstructor public class AuthToken { @Id diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Project.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Project.java index 6a5df74..bd06bf5 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Project.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Project.java @@ -1,15 +1,18 @@ package uk.ac.ebi.spot.ontotools.curation.domain.auth; +import lombok.AllArgsConstructor; import lombok.Getter; import lombok.NoArgsConstructor; import lombok.Setter; import org.springframework.data.annotation.Id; import org.springframework.data.mongodb.core.mapping.Document; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import java.util.List; @Document(collection = "projects") @NoArgsConstructor +@AllArgsConstructor @Getter @Setter public class Project { @@ -24,4 +27,6 @@ public class Project { private List datasources; private List ontologies; + + private Provenance created; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Role.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Role.java index f6bd364..4ee1f08 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Role.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Role.java @@ -12,7 +12,7 @@ @Setter public class Role { - private String project; + private String projectId; private ProjectRole role; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/User.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/User.java index 0335e82..8d6f707 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/User.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/User.java @@ -1,5 +1,6 @@ package uk.ac.ebi.spot.ontotools.curation.domain.auth; +import lombok.AllArgsConstructor; import lombok.Getter; import lombok.NoArgsConstructor; import lombok.Setter; @@ -13,6 +14,7 @@ @Getter @Setter @NoArgsConstructor +@AllArgsConstructor public class User { @Id diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/exception/AuthenticationException.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/exception/AuthenticationException.java new file mode 100644 index 0000000..05d0378 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/exception/AuthenticationException.java @@ -0,0 +1,8 @@ +package uk.ac.ebi.spot.ontotools.curation.exception; + +public class AuthenticationException extends RuntimeException { + + public AuthenticationException(String message) { + super(message); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java new file mode 100644 index 0000000..de6c20c --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java @@ -0,0 +1,11 @@ +package uk.ac.ebi.spot.ontotools.curation.repository; + +import org.springframework.data.mongodb.repository.MongoRepository; +import uk.ac.ebi.spot.ontotools.curation.domain.Entity; + +import java.util.stream.Stream; + +public interface EntityRepository extends MongoRepository { + + Stream readBySourceId(String sourceId); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/SourceRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/SourceRepository.java new file mode 100644 index 0000000..84ffe52 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/SourceRepository.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.repository; + +import org.springframework.data.mongodb.repository.MongoRepository; +import uk.ac.ebi.spot.ontotools.curation.domain.Source; + +import java.util.List; +import java.util.Optional; + +public interface SourceRepository extends MongoRepository { + + List findByProjectIdAndArchived(String projectId, boolean archived); + + Optional findByIdAndProjectIdAndArchived(String sourceId, String projectId, boolean archived); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java index 060a6c7..d5c25d6 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java @@ -6,10 +6,4 @@ public class MappingDtoAssembler { - public static MappingDto assemble(Mapping mapping, OntologyTerm ontologyTerm) { - return new MappingDto(mapping.getId(), - OntologyTermDtoAssembler.assemble(ontologyTerm), - ProvenanceDtoAssembler.assemble(mapping.getCreated())); - } - } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java index d629b6e..9f7510f 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java @@ -1,13 +1,39 @@ package uk.ac.ebi.spot.ontotools.curation.rest.assembler; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectCreationDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import java.util.ArrayList; + public class ProjectDtoAssembler { - public static ProjectDto assemble(Project project) { + public static ProjectDto assemble(Project project, User user) { return new ProjectDto(project.getId(), project.getName(), - project.getDescription()); + project.getDescription(), + project.getDatasources(), + project.getOntologies(), + ProvenanceDtoAssembler.assemble(project.getCreated(), user)); + } + + public static Project disassemble(ProjectDto project) { + return new Project(project.getId(), + project.getName(), + project.getDescription(), + project.getDatasources(), + project.getOntologies(), + ProvenanceDtoAssembler.disassemble(project.getCreated())); + } + + public static Project disassemble(ProjectCreationDto project, Provenance provenance) { + return new Project(null, + project.getName(), + project.getDescription(), + project.getDatasources() != null ? project.getDatasources() : new ArrayList<>(), + project.getOntologies() != null ? project.getOntologies() : new ArrayList<>(), + provenance); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProvenanceDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProvenanceDtoAssembler.java index efed199..8da00db 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProvenanceDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProvenanceDtoAssembler.java @@ -1,13 +1,16 @@ package uk.ac.ebi.spot.ontotools.curation.rest.assembler; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProvenanceDto; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.UserDto; public class ProvenanceDtoAssembler { - public static ProvenanceDto assemble(Provenance provenance) { - return new ProvenanceDto(new UserDto(provenance.getUserId(), null, null), provenance.getTimestamp()); + public static ProvenanceDto assemble(Provenance provenance, User user) { + return new ProvenanceDto(UserDtoAssembler.asseble(user), provenance.getTimestamp()); } + public static Provenance disassemble(ProvenanceDto provenance) { + return new Provenance(provenance.getUser().getId(), provenance.getTimestamp()); + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/RoleDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/RoleDtoAssembler.java new file mode 100644 index 0000000..6c4d446 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/RoleDtoAssembler.java @@ -0,0 +1,11 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.assembler; + +import uk.ac.ebi.spot.ontotools.curation.domain.auth.Role; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.RoleDto; + +public class RoleDtoAssembler { + + public static RoleDto assemble(Role role) { + return new RoleDto(role.getProjectId(), role.getRole().name()); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/SourceDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/SourceDtoAssembler.java new file mode 100644 index 0000000..b53c146 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/SourceDtoAssembler.java @@ -0,0 +1,46 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.assembler; + +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; +import uk.ac.ebi.spot.ontotools.curation.domain.Source; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceCreationDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; + +public class SourceDtoAssembler { + + public static SourceDto assemble(Source source, User user) { + return new SourceDto(source.getId(), + source.getName(), + source.getDescription(), + source.getUri(), + source.getType(), + ProvenanceDtoAssembler.assemble(source.getCreated(), user), + ProvenanceDtoAssembler.assemble(source.getLastUpdated(), user)); + } + + public static Source disassemble(SourceDto source) { + return new Source(source.getId(), + source.getName(), + source.getDescription(), + source.getUri(), + source.getType(), + ProvenanceDtoAssembler.disassemble(source.getCreated()), + ProvenanceDtoAssembler.disassemble(source.getLastUpdated()), + null, + null, + false); + } + + public static Source disassemble(SourceCreationDto source, Provenance provenance) { + return new Source(null, + source.getName(), + source.getDescription(), + source.getUri(), + source.getType(), + provenance, + provenance, + null, + null, + false); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/TraitDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/TraitDtoAssembler.java deleted file mode 100644 index 1bd1253..0000000 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/TraitDtoAssembler.java +++ /dev/null @@ -1,18 +0,0 @@ -package uk.ac.ebi.spot.ontotools.curation.rest.assembler; - -import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; -import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; -import uk.ac.ebi.spot.ontotools.curation.domain.Trait; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.TraitDto; - -public class TraitDtoAssembler { - - public static TraitDto assemble(Trait trait, Mapping mapping, OntologyTerm ontologyTerm) { - return new TraitDto(trait.getId(), - trait.getName(), - MappingDtoAssembler.assemble(mapping, ontologyTerm), - trait.getNoSourceRecords(), - ProvenanceDtoAssembler.assemble(trait.getCreated()), - ProvenanceDtoAssembler.assemble(trait.getLastUpdated())); - } -} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/UserDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/UserDtoAssembler.java new file mode 100644 index 0000000..2c82950 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/UserDtoAssembler.java @@ -0,0 +1,17 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.assembler; + +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.UserDto; + +import java.util.stream.Collectors; + +public class UserDtoAssembler { + + public static UserDto asseble(User user) { + return new UserDto(user.getId(), + user.getName(), + user.getEmail(), + user.getRoles() != null ? user.getRoles().stream().map(RoleDtoAssembler::assemble).collect(Collectors.toList()) : null); + } + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java index ceb822a..c54b312 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java @@ -1,27 +1,30 @@ package uk.ac.ebi.spot.ontotools.curation.rest.controller; +import org.joda.time.DateTime; import org.slf4j.Logger; import org.slf4j.LoggerFactory; import org.springframework.beans.factory.annotation.Autowired; import org.springframework.http.HttpStatus; import org.springframework.http.MediaType; -import org.springframework.web.bind.annotation.GetMapping; -import org.springframework.web.bind.annotation.RequestMapping; -import org.springframework.web.bind.annotation.ResponseStatus; -import org.springframework.web.bind.annotation.RestController; +import org.springframework.web.bind.annotation.*; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.rest.assembler.ProjectDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectCreationDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; import uk.ac.ebi.spot.ontotools.curation.service.JWTService; import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; +import uk.ac.ebi.spot.ontotools.curation.service.UserService; import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; import uk.ac.ebi.spot.ontotools.curation.util.HeadersUtil; import javax.servlet.http.HttpServletRequest; +import javax.validation.Valid; +import java.util.ArrayList; import java.util.List; -import java.util.stream.Collectors; @RestController @RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) @@ -35,14 +38,63 @@ public class ProjectsController { @Autowired private ProjectService projectService; + @Autowired + private UserService userService; + + @PostMapping(consumes = MediaType.APPLICATION_JSON_VALUE, + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.CREATED) + public ProjectDto createProject(@RequestBody @Valid ProjectCreationDto projectCreationDto, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to create project: {}", user.getEmail(), projectCreationDto.getName()); + Project created = projectService.createProject(ProjectDtoAssembler.disassemble(projectCreationDto, new Provenance(user.getId(), DateTime.now())), user); + userService.addProjectToUser(user, created, ProjectRole.ADMIN); + return ProjectDtoAssembler.assemble(created, user); + } + @GetMapping(produces = MediaType.APPLICATION_JSON_VALUE) @ResponseStatus(HttpStatus.OK) public List getProjects(HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); - log.info("[{}] Request to retrieve projects.", user.getName()); + log.info("[{}] Request to retrieve projects.", user.getEmail()); List projects = projectService.retrieveProjects(user); - log.info("Found {} projects for user: {}", projects.size(), user.getName()); - return projects.stream().map(ProjectDtoAssembler::assemble).collect(Collectors.toList()); + log.info("Found {} projects for user: {}", projects.size(), user.getEmail()); + List result = new ArrayList<>(); + for (Project project : projects) { + result.add(ProjectDtoAssembler.assemble(project, user)); + } + return result; + } + + @GetMapping(value = "/{projectId}", + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.OK) + public ProjectDto getProject(@PathVariable String projectId, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to retrieve project: {}", user.getEmail(), projectId); + Project project = projectService.retrieveProject(projectId, user); + return ProjectDtoAssembler.assemble(project, user); + } + + @PutMapping(value = "/{projectId}", + consumes = MediaType.APPLICATION_JSON_VALUE, + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.OK) + public ProjectDto updateProject(@RequestBody @Valid ProjectDto projectDto, @PathVariable String projectId, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to update project [{}]: {}", user.getEmail(), projectId, projectDto.getName()); + Project updated = projectService.updateProject(ProjectDtoAssembler.disassemble(projectDto), projectId, user); + return ProjectDtoAssembler.assemble(updated, user); + } + + @DeleteMapping(value = "/{projectId}", + produces = MediaType.TEXT_PLAIN_VALUE) + @ResponseStatus(HttpStatus.OK) + public void deleteProject(@PathVariable String projectId, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to delete project: {}", user.getEmail(), projectId); + projectService.deleteProject(projectId, user); + userService.removeProjectFromUser(user, projectId); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java new file mode 100644 index 0000000..a52bb5c --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java @@ -0,0 +1,100 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.controller; + +import org.joda.time.DateTime; +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.http.HttpStatus; +import org.springframework.http.MediaType; +import org.springframework.web.bind.annotation.*; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; +import uk.ac.ebi.spot.ontotools.curation.domain.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; +import uk.ac.ebi.spot.ontotools.curation.domain.Source; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.rest.assembler.SourceDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceCreationDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; +import uk.ac.ebi.spot.ontotools.curation.service.EntityService; +import uk.ac.ebi.spot.ontotools.curation.service.JWTService; +import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; +import uk.ac.ebi.spot.ontotools.curation.service.SourceService; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; +import uk.ac.ebi.spot.ontotools.curation.util.HeadersUtil; + +import javax.servlet.http.HttpServletRequest; +import javax.validation.Valid; +import java.util.ArrayList; +import java.util.List; + +@RestController +@RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) +public class SourcesController { + + private static final Logger log = LoggerFactory.getLogger(SourcesController.class); + + @Autowired + private JWTService jwtService; + + @Autowired + private SourceService sourceService; + + @Autowired + private ProjectService projectService; + + @Autowired + private EntityService entityService; + + @PostMapping(value = "/{projectId}" + CurationConstants.API_SOURCES, + consumes = MediaType.APPLICATION_JSON_VALUE, + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.CREATED) + public SourceDto createSource(@RequestBody @Valid SourceCreationDto sourceCreationDto, @PathVariable String projectId, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{} | {}] Request to create source: {}", user.getEmail(), projectId, sourceCreationDto.getName()); + projectService.verifyAccess(projectId, user); + Source created = sourceService.createSource(SourceDtoAssembler.disassemble(sourceCreationDto, new Provenance(user.getId(), DateTime.now())), projectId); + return SourceDtoAssembler.assemble(created, user); + } + + @GetMapping(value = "/{projectId}" + CurationConstants.API_SOURCES, + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.OK) + public List getSources(@PathVariable String projectId, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to retrieve sources: {}", user.getEmail(), projectId); + projectService.verifyAccess(projectId, user); + List sources = sourceService.getSources(projectId); + log.info("Found {} sources in project: {}", sources.size(), projectId); + List result = new ArrayList<>(); + for (Source source : sources) { + result.add(SourceDtoAssembler.assemble(source, user)); + } + return result; + } + + @GetMapping(value = "/{projectId}" + CurationConstants.API_SOURCES + "/{sourceId}", + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.OK) + public SourceDto getSource(@PathVariable String projectId, @PathVariable String sourceId, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to retrieve source: {} | {}", user.getEmail(), projectId, sourceId); + projectService.verifyAccess(projectId, user); + Source source = sourceService.getSource(sourceId, projectId); + return SourceDtoAssembler.assemble(source, user); + } + + @PutMapping(value = "/{projectId}" + CurationConstants.API_SOURCES + "/{sourceId}", + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.OK) + public void addDataToSource(@RequestBody List entities, @PathVariable String projectId, @PathVariable String sourceId, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to add data to source: {} | {} | {}", user.getEmail(), projectId, sourceId, entities); + projectService.verifyAccess(projectId, user); + Source source = sourceService.getSource(sourceId, projectId); + for (String entity : entities) { + entityService.createEntity(new Entity(null, entity, source.getId(), new Provenance(user.getId(), DateTime.now()), MappingStatus.UNMAPPED)); + } + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/TraitsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/TraitsController.java deleted file mode 100644 index 996b3da..0000000 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/TraitsController.java +++ /dev/null @@ -1,70 +0,0 @@ -package uk.ac.ebi.spot.ontotools.curation.rest.controller; - -import org.slf4j.Logger; -import org.slf4j.LoggerFactory; -import org.springframework.beans.factory.annotation.Autowired; -import org.springframework.http.HttpStatus; -import org.springframework.http.MediaType; -import org.springframework.web.bind.annotation.GetMapping; -import org.springframework.web.bind.annotation.RequestMapping; -import org.springframework.web.bind.annotation.ResponseStatus; -import org.springframework.web.bind.annotation.RestController; -import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; -import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; -import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; -import uk.ac.ebi.spot.ontotools.curation.domain.Trait; -import uk.ac.ebi.spot.ontotools.curation.rest.assembler.TraitDtoAssembler; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.TraitDto; -import uk.ac.ebi.spot.ontotools.curation.service.MappingService; -import uk.ac.ebi.spot.ontotools.curation.service.OntologyTermService; -import uk.ac.ebi.spot.ontotools.curation.service.TraitsService; -import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; - -import java.util.ArrayList; -import java.util.List; -import java.util.Map; -import java.util.stream.Collectors; - -@RestController -@RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_TRAITS) -public class TraitsController { - - private static final Logger log = LoggerFactory.getLogger(TraitsController.class); - - @Autowired - private TraitsService traitsService; - - @Autowired - private MappingService mappingService; - - @Autowired - private OntologyTermService ontologyTermService; - - /** - * GET /v1/traits - */ - @GetMapping(produces = MediaType.APPLICATION_JSON_VALUE) - @ResponseStatus(HttpStatus.OK) - public List getTraits() { - log.info("Request to get traits."); - List traits = traitsService.getTraits(); - List traitIds = traits.stream().map(Trait::getId).collect(Collectors.toList()); - Map mappingMap = mappingService.getMappingsByTrait(traitIds); - - List ontoTermIds = new ArrayList<>(); - for (Mapping mapping : mappingMap.values()) { - if (!ontoTermIds.contains(mapping.getMappedTermId())) { - ontoTermIds.add(mapping.getMappedTermId()); - } - } - Map ontologyTerms = ontologyTermService.getOntologyTermsById(ontoTermIds); - - List result = new ArrayList<>(); - for (Trait trait : traits) { - result.add(TraitDtoAssembler.assemble(trait, mappingMap.get(trait.getId()), ontologyTerms.get(mappingMap.get(trait.getId()).getMappedTermId()))); - - } - return result; - } - -} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectCreationDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectCreationDto.java new file mode 100644 index 0000000..5a8180c --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectCreationDto.java @@ -0,0 +1,57 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import javax.validation.constraints.NotNull; +import java.io.Serializable; +import java.util.List; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class ProjectCreationDto implements Serializable { + + private static final long serialVersionUID = -4397444940725422977L; + + @NotNull + @JsonProperty("name") + private final String name; + + @JsonProperty("description") + private final String description; + + @JsonProperty("datasources") + private final List datasources; + + @JsonProperty("ontologies") + private final List ontologies; + + @JsonCreator + public ProjectCreationDto(@JsonProperty("name") String name, + @JsonProperty("description") String description, + @JsonProperty("datasources") List datasources, + @JsonProperty("ontologies") List ontologies) { + this.name = name; + this.description = description; + this.datasources = datasources; + this.ontologies = ontologies; + } + + public String getName() { + return name; + } + + public String getDescription() { + return description; + } + + public List getDatasources() { + return datasources; + } + + public List getOntologies() { + return ontologies; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDto.java index 603e2af..c90f581 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDto.java @@ -7,6 +7,7 @@ import javax.validation.constraints.NotNull; import java.io.Serializable; +import java.util.List; @EqualsAndHashCode @JsonInclude(JsonInclude.Include.NON_NULL) @@ -25,13 +26,28 @@ public final class ProjectDto implements Serializable { @JsonProperty("description") private final String description; + @JsonProperty("datasources") + private final List datasources; + + @JsonProperty("ontologies") + private final List ontologies; + + @JsonProperty("created") + private final ProvenanceDto created; + @JsonCreator public ProjectDto(@JsonProperty("id") String id, @JsonProperty("name") String name, - @JsonProperty("description") String description) { + @JsonProperty("description") String description, + @JsonProperty("datasources") List datasources, + @JsonProperty("ontologies") List ontologies, + @JsonProperty("created") ProvenanceDto created) { this.id = id; this.name = name; this.description = description; + this.datasources = datasources; + this.ontologies = ontologies; + this.created = created; } public String getId() { @@ -45,4 +61,16 @@ public String getName() { public String getDescription() { return description; } -} + + public List getDatasources() { + return datasources; + } + + public List getOntologies() { + return ontologies; + } + + public ProvenanceDto getCreated() { + return created; + } +} \ No newline at end of file diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/RoleDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/RoleDto.java new file mode 100644 index 0000000..d4737e2 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/RoleDto.java @@ -0,0 +1,36 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class RoleDto implements Serializable { + + private static final long serialVersionUID = 1216570040619515074L; + + @JsonProperty("projectId") + private final String projectId; + + @JsonProperty("role") + private final String role; + + @JsonCreator + public RoleDto(@JsonProperty("projectId") String projectId, + @JsonProperty("role") String role) { + this.projectId = projectId; + this.role = role; + } + + public String getProjectId() { + return projectId; + } + + public String getRole() { + return role; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/SourceCreationDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/SourceCreationDto.java new file mode 100644 index 0000000..cd75c88 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/SourceCreationDto.java @@ -0,0 +1,57 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import javax.validation.constraints.NotEmpty; +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class SourceCreationDto implements Serializable { + + private static final long serialVersionUID = -452026015300129980L; + + @NotEmpty + @JsonProperty("name") + private final String name; + + @JsonProperty("description") + private final String description; + + @JsonProperty("uri") + private final String uri; + + @NotEmpty + @JsonProperty("type") + private final String type; + + @JsonCreator + public SourceCreationDto(@JsonProperty("name") String name, + @JsonProperty("description") String description, + @JsonProperty("uri") String uri, + @JsonProperty("type") String type) { + this.name = name; + this.description = description; + this.uri = uri; + this.type = type; + } + + public String getName() { + return name; + } + + public String getDescription() { + return description; + } + + public String getUri() { + return uri; + } + + public String getType() { + return type; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/SourceDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/SourceDto.java new file mode 100644 index 0000000..e58c426 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/SourceDto.java @@ -0,0 +1,83 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import javax.validation.constraints.NotEmpty; +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class SourceDto implements Serializable { + + private static final long serialVersionUID = -452026015300129980L; + + @NotEmpty + @JsonProperty("id") + private final String id; + + @JsonProperty("name") + private final String name; + + @JsonProperty("description") + private final String description; + + @JsonProperty("uri") + private final String uri; + + @JsonProperty("type") + private final String type; + + @JsonProperty("created") + private final ProvenanceDto created; + + @JsonProperty("lastUpdated") + private final ProvenanceDto lastUpdated; + + @JsonCreator + public SourceDto(@JsonProperty("id") String id, + @JsonProperty("name") String name, + @JsonProperty("description") String description, + @JsonProperty("uri") String uri, + @JsonProperty("type") String type, + @JsonProperty("created") ProvenanceDto created, + @JsonProperty("lastUpdated") ProvenanceDto lastUpdated) { + this.id = id; + this.name = name; + this.description = description; + this.uri = uri; + this.type = type; + this.created = created; + this.lastUpdated = lastUpdated; + } + + public String getId() { + return id; + } + + public String getName() { + return name; + } + + public String getDescription() { + return description; + } + + public String getUri() { + return uri; + } + + public String getType() { + return type; + } + + public ProvenanceDto getCreated() { + return created; + } + + public ProvenanceDto getLastUpdated() { + return lastUpdated; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/UserDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/UserDto.java index 39d0065..250ee51 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/UserDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/UserDto.java @@ -7,6 +7,7 @@ import javax.validation.constraints.NotNull; import java.io.Serializable; +import java.util.List; @EqualsAndHashCode @JsonInclude(JsonInclude.Include.NON_NULL) @@ -15,33 +16,44 @@ public final class UserDto implements Serializable { private static final long serialVersionUID = 8940035463152694066L; @NotNull - @JsonProperty("username") - private final String username; + @JsonProperty("id") + private final String id; + @NotNull + @JsonProperty("name") + private final String name; + + @NotNull @JsonProperty("email") private final String email; - @JsonProperty("role") - private final String role; + @JsonProperty("roles") + private final List roles; @JsonCreator - public UserDto(@JsonProperty("username") String username, + public UserDto(@JsonProperty("id") String id, + @JsonProperty("name") String name, @JsonProperty("email") String email, - @JsonProperty("role") String role) { - this.username = username; + @JsonProperty("roles") List roles) { + this.id = id; + this.name = name; this.email = email; - this.role = role; + this.roles = roles; + } + + public String getId() { + return id; } - public String getUsername() { - return username; + public String getName() { + return name; } public String getEmail() { return email; } - public String getRole() { - return role; + public List getRoles() { + return roles; } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java new file mode 100644 index 0000000..54d57d2 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java @@ -0,0 +1,7 @@ +package uk.ac.ebi.spot.ontotools.curation.service; + +import uk.ac.ebi.spot.ontotools.curation.domain.Entity; + +public interface EntityService { + Entity createEntity(Entity entity); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/JWTService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/JWTService.java index 83f5d7b..ff3c205 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/JWTService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/JWTService.java @@ -4,4 +4,6 @@ public interface JWTService { User extractUser(String jwt); + + User extractUserSlim(String jwt); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java index a61ccdb..9912f9a 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java @@ -6,5 +6,6 @@ import java.util.Map; public interface MappingService { - Map getMappingsByTrait(List traitIds); + + void runAutoMapping(String sourceId); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectService.java index 7cde698..18d9053 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectService.java @@ -7,4 +7,14 @@ public interface ProjectService { List retrieveProjects(User user); + + Project createProject(Project disassemble, User user); + + Project updateProject(Project disassemble, String projectId, User user); + + void deleteProject(String projectId, User user); + + Project retrieveProject(String projectId, User user); + + void verifyAccess(String projectId, User user); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/SourceService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/SourceService.java new file mode 100644 index 0000000..9fcba59 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/SourceService.java @@ -0,0 +1,13 @@ +package uk.ac.ebi.spot.ontotools.curation.service; + +import uk.ac.ebi.spot.ontotools.curation.domain.Source; + +import java.util.List; + +public interface SourceService { + Source createSource(Source source, String projectId); + + List getSources(String projectId); + + Source getSource(String sourceId, String projectId); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/TraitsService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/TraitsService.java deleted file mode 100644 index e62a457..0000000 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/TraitsService.java +++ /dev/null @@ -1,9 +0,0 @@ -package uk.ac.ebi.spot.ontotools.curation.service; - -import uk.ac.ebi.spot.ontotools.curation.domain.Trait; - -import java.util.List; - -public interface TraitsService { - List getTraits(); -} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/UserService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/UserService.java index adf1901..5a8bb7b 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/UserService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/UserService.java @@ -1,9 +1,15 @@ package uk.ac.ebi.spot.ontotools.curation.service; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; public interface UserService { User findByEmail(String email); User findRandomSuperUser(); + + void addProjectToUser(User user, Project project, ProjectRole role); + + void removeProjectFromUser(User user, String projectId); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java new file mode 100644 index 0000000..58c5120 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java @@ -0,0 +1,26 @@ +package uk.ac.ebi.spot.ontotools.curation.service.impl; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.domain.Entity; +import uk.ac.ebi.spot.ontotools.curation.repository.EntityRepository; +import uk.ac.ebi.spot.ontotools.curation.service.EntityService; + +@Service +public class EntityServiceImpl implements EntityService { + + private static final Logger log = LoggerFactory.getLogger(EntityService.class); + + @Autowired + private EntityRepository entityRepository; + + @Override + public Entity createEntity(Entity entity) { + log.info("[{}] Creating entity: {}", entity.getSourceId(), entity.getName()); + Entity created = entityRepository.insert(entity); + log.info("[{}] Entity created: {}", created.getSourceId(), created.getId()); + return created; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/JWTServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/JWTServiceImpl.java index e58a034..a984586 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/JWTServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/JWTServiceImpl.java @@ -8,8 +8,10 @@ import org.springframework.core.io.DefaultResourceLoader; import org.springframework.stereotype.Service; import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.AuthToken; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; -import uk.ac.ebi.spot.ontotools.curation.exception.AuthorizationException; +import uk.ac.ebi.spot.ontotools.curation.exception.AuthenticationException; +import uk.ac.ebi.spot.ontotools.curation.repository.AuthTokenRepository; import uk.ac.ebi.spot.ontotools.curation.service.JWTService; import uk.ac.ebi.spot.ontotools.curation.service.UserService; import uk.ac.ebi.spot.ontotools.curation.system.SystemConfigProperties; @@ -19,6 +21,7 @@ import java.security.PublicKey; import java.security.cert.CertificateFactory; import java.security.cert.X509Certificate; +import java.util.Optional; @Service public class JWTServiceImpl implements JWTService { @@ -31,6 +34,9 @@ public class JWTServiceImpl implements JWTService { @Autowired private UserService userService; + @Autowired + private AuthTokenRepository authTokenRepository; + private PublicKey verifyingKey; @PostConstruct @@ -54,13 +60,27 @@ public void initialize() { } } + @Override public User extractUser(String jwt) { + Optional authTokenOptional = authTokenRepository.findByToken(jwt); + log.info("Token is privileged: {}", authTokenOptional.isPresent()); + if (authTokenOptional.isPresent()) { + User user = userService.findByEmail(authTokenOptional.get().getEmail()); + log.info("User found: {} - {}", user.getName(), user.getEmail()); + return user; + } + + return extractUserSlim(jwt); + } + + @Override + public User extractUserSlim(String jwt) { log.info("Auth enabled: {}", systemConfigProperties.isAuthEnabled()); if (systemConfigProperties.isAuthEnabled()) { if (jwt == null) { log.error("Unauthorised access. JWT missing."); - throw new AuthorizationException("Unauthorised access. JWT missing."); + throw new AuthenticationException("Unauthorised access. JWT missing."); } Claims jwtClaims; @@ -68,7 +88,7 @@ public User extractUser(String jwt) { jwtClaims = Jwts.parser().setSigningKey(verifyingKey).parseClaimsJws(jwt).getBody(); } catch (Exception e) { log.error("Unable to parse JWT: {}", e.getMessage(), e); - throw new AuthorizationException("Unauthorised access: " + e.getMessage()); + throw new AuthenticationException("Unauthorised access: " + e.getMessage()); } String userReference = jwtClaims.getSubject(); String name = null; @@ -81,7 +101,7 @@ public User extractUser(String jwt) { } if (name == null || email == null || userReference == null) { log.error("Unable to parse JWT: Name, email or userReference missing."); - throw new AuthorizationException("Unauthorised access: Name, email or userReference missing."); + throw new AuthenticationException("Unauthorised access: Name, email or userReference missing."); } User user = userService.findByEmail(email); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java index 1add962..0d713d5 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java @@ -3,14 +3,20 @@ import org.slf4j.Logger; import org.slf4j.LoggerFactory; import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.scheduling.annotation.Async; import org.springframework.stereotype.Service; -import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; +import uk.ac.ebi.spot.ontotools.curation.domain.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.repository.EntityRepository; import uk.ac.ebi.spot.ontotools.curation.repository.MappingRepository; import uk.ac.ebi.spot.ontotools.curation.service.MappingService; +import uk.ac.ebi.spot.ontotools.curation.service.ZoomaService; +import uk.ac.ebi.spot.ontotools.curation.util.CurationUtil; -import java.util.HashMap; -import java.util.List; -import java.util.Map; +import java.util.*; +import java.util.stream.Stream; + +import static uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants.ZOOMA_CONFIDENCE_HIGH; @Service public class MappingServiceImpl implements MappingService { @@ -20,14 +26,61 @@ public class MappingServiceImpl implements MappingService { @Autowired private MappingRepository mappingRepository; + @Autowired + private EntityRepository entityRepository; + + private ZoomaService zoomaService; + @Override - public Map getMappingsByTrait(List traitIds) { - log.info("Retrieving mappings for {} ids.", traitIds.size()); - Map mappingMap = new HashMap<>(); - List mappings = mappingRepository.findByMappedTraitIdIn(traitIds); - for (Mapping mapping : mappings) { - mappingMap.put(mapping.getMappedTraitId(), mapping); + @Async + public void runAutoMapping(String sourceId, Project project) { + log.info("Running auto-mapping for source: {}", sourceId); + Stream entityStream = entityRepository.readBySourceId(sourceId); + entityStream.forEach(entity -> this.autoMap(entity, project)); + entityStream.close(); + } + + private void autoMap(Entity entity, Project project) { + /** + * Retrieve annotations from Zooma from datasources stored in the project + */ + Map> zoomaDSResults = zoomaService.annotate(entity.getName(), project.getDatasources(), null); + + /** + * Retrieve annotations from Zooma from ontologies stored in the project + */ + Map> zoomaResults = zoomaService.annotate(entity.getName(), null, project.getOntologies()); + + List highConfidenceIRIs = new ArrayList<>(); + Set finalIRIs = new HashSet<>(); + for (String confidence : zoomaDSResults.keySet()) { + if (zoomaDSResults.get(confidence).size() > 1) { + log.warn("Found suggestion with combined terms: {} | {}", entity, zoomaDSResults.get(confidence)); + continue; + } + + String suggestedTermIRI = zoomaDSResults.get(confidence).get(0); + if (confidence.equalsIgnoreCase(ZOOMA_CONFIDENCE_HIGH)) { + highConfidenceIRIs.add(suggestedTermIRI); + } + if (project.getOntologies() != null && project.getOntologies().contains(CurationUtil.ontoFromIRI())) { + finalIRIs.add(suggestedTermIRI); + } } - return mappingMap; + + for (String iri : finalIRIs) { + /** + * TODO: + * - Create ontology term + * - Create mapping suggestion + */ + } + + /** + * TODO: Find automatic mapping + */ + /** + * TODO: Delete previous mapping suggestions for the terms just created + */ } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java index 3773ef6..439c384 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java @@ -4,13 +4,18 @@ import org.slf4j.LoggerFactory; import org.springframework.beans.factory.annotation.Autowired; import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; import uk.ac.ebi.spot.ontotools.curation.domain.auth.Role; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.exception.AuthorizationException; +import uk.ac.ebi.spot.ontotools.curation.exception.EntityNotFoundException; import uk.ac.ebi.spot.ontotools.curation.repository.ProjectRepository; import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; +import java.util.ArrayList; import java.util.List; +import java.util.Optional; import java.util.stream.Collectors; @Service @@ -24,9 +29,102 @@ public class ProjectServiceImpl implements ProjectService { @Override public List retrieveProjects(User user) { log.info("Retrieving projects for user: {}", user.getEmail()); - List projectIds = user.getRoles().stream().map(Role::getProject).collect(Collectors.toList()); + List projectIds = user.getRoles().stream().map(Role::getProjectId).collect(Collectors.toList()); List projects = user.isSuperUser() ? projectRepository.findAll() : projectRepository.findByIdIn(projectIds); log.info("Found {} projects: ", projects.size()); return projects; } + + @Override + public Project createProject(Project toCreate, User user) { + log.info("[{}] Creating project: {}", user.getEmail(), toCreate.getName()); + Project created = projectRepository.insert(toCreate); + log.info("[{}] Project created: {}", created.getName(), created.getId()); + return created; + } + + @Override + public Project updateProject(Project project, String projectId, User user) { + log.info("[{}] Updating project: {}", user.getEmail(), projectId); + Optional exitingOp = projectRepository.findById(projectId); + if (!exitingOp.isPresent()) { + log.error("[{}] Unable to find project: {}", user.getEmail(), projectId); + throw new EntityNotFoundException("[" + user.getEmail() + "] Unable to find project: " + projectId); + } + if (hasAccess(user, projectId)) { + Project existing = exitingOp.get(); + existing.setDatasources(project.getDatasources() != null ? project.getDatasources() : new ArrayList<>()); + existing.setOntologies(project.getOntologies() != null ? project.getOntologies() : new ArrayList<>()); + existing.setName(project.getName()); + existing.setDescription(project.getDescription()); + return projectRepository.save(existing); + } else { + log.error("User [{}] cannot change project [{}]. Required access is missing.", user.getEmail(), projectId); + throw new AuthorizationException("User [" + user.getEmail() + "] cannot change project [" + projectId + "]. Required access is missing."); + } + } + + @Override + public void deleteProject(String projectId, User user) { + log.info("[{}] Deleting project: {}", user.getEmail(), projectId); + Optional exitingOp = projectRepository.findById(projectId); + if (!exitingOp.isPresent()) { + log.error("[{}] Unable to find project: {}", user.getEmail(), projectId); + throw new EntityNotFoundException("[" + user.getEmail() + "] Unable to find project: " + projectId); + } + if (hasAccess(user, projectId)) { + Project existing = exitingOp.get(); + projectRepository.delete(existing); + + /** + * TODO: Implement downstream consequences + */ + } else { + log.error("User [{}] cannot delete project [{}]. Required access is missing.", user.getEmail(), projectId); + throw new AuthorizationException("User [" + user.getEmail() + "] cannot delete project [" + projectId + "]. Required access is missing."); + } + } + + @Override + public Project retrieveProject(String projectId, User user) { + log.info("[{}] Retrieving project: {}", user.getEmail(), projectId); + if (!hasAccess(user, projectId)) { + log.error("[{}] User does not have access project: {}", user.getEmail(), projectId); + throw new EntityNotFoundException("[" + user.getEmail() + "] Unable to find project: " + projectId); + } + + Optional exitingOp = projectRepository.findById(projectId); + if (!exitingOp.isPresent()) { + log.error("[{}] Unable to find project: {}", user.getEmail(), projectId); + throw new EntityNotFoundException("[" + user.getEmail() + "] Unable to find project: " + projectId); + } + + return exitingOp.get(); + } + + @Override + public void verifyAccess(String projectId, User user) { + log.info("[{}] Verifying access to project: {}", user.getEmail(), projectId); + if (!hasAccess(user, projectId)) { + log.error("[{}] User does not have access project: {}", user.getEmail(), projectId); + throw new EntityNotFoundException("[" + user.getEmail() + "] Unable to find project: " + projectId); + } + Optional exitingOp = projectRepository.findById(projectId); + if (!exitingOp.isPresent()) { + log.error("[{}] Unable to find project: {}", user.getEmail(), projectId); + throw new EntityNotFoundException("[" + user.getEmail() + "] Unable to find project: " + projectId); + } + } + + private boolean hasAccess(User user, String projectId) { + if (user.getRoles() != null) { + for (Role role : user.getRoles()) { + if (role.getProjectId().equals(projectId) && role.getRole().equals(ProjectRole.ADMIN)) { + return true; + } + } + } + + return false; + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/SourceServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/SourceServiceImpl.java new file mode 100644 index 0000000..5052fce --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/SourceServiceImpl.java @@ -0,0 +1,50 @@ +package uk.ac.ebi.spot.ontotools.curation.service.impl; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.domain.Source; +import uk.ac.ebi.spot.ontotools.curation.exception.EntityNotFoundException; +import uk.ac.ebi.spot.ontotools.curation.repository.SourceRepository; +import uk.ac.ebi.spot.ontotools.curation.service.SourceService; + +import java.util.List; +import java.util.Optional; + +@Service +public class SourceServiceImpl implements SourceService { + + private static final Logger log = LoggerFactory.getLogger(SourceService.class); + + @Autowired + private SourceRepository sourceRepository; + + @Override + public Source createSource(Source toCreate, String projectId) { + log.info("[{}] Creating project: {}", projectId, toCreate.getName()); + toCreate.setProjectId(projectId); + Source created = sourceRepository.insert(toCreate); + log.info("[{}] Source created: {}", created.getName(), created.getId()); + return created; + } + + @Override + public List getSources(String projectId) { + log.info("Retrieving sources for project: {}", projectId); + List sources = sourceRepository.findByProjectIdAndArchived(projectId, false); + log.info("Found {} sources.", sources.size()); + return sources; + } + + @Override + public Source getSource(String sourceId, String projectId) { + log.info("Retrieving sources for project: {}", projectId); + Optional sourceOp = sourceRepository.findByIdAndProjectIdAndArchived(sourceId, projectId, false); + if (!sourceOp.isPresent()) { + log.error("[{}] Unable to find source: {}", projectId, sourceId); + throw new EntityNotFoundException("[" + projectId + "] Unable to find source: " + sourceId); + } + return sourceOp.get(); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/TraitsServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/TraitsServiceImpl.java deleted file mode 100644 index b665d9e..0000000 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/TraitsServiceImpl.java +++ /dev/null @@ -1,26 +0,0 @@ -package uk.ac.ebi.spot.ontotools.curation.service.impl; - -import org.slf4j.Logger; -import org.slf4j.LoggerFactory; -import org.springframework.beans.factory.annotation.Autowired; -import org.springframework.stereotype.Service; -import uk.ac.ebi.spot.ontotools.curation.domain.Trait; -import uk.ac.ebi.spot.ontotools.curation.repository.TraitRepository; -import uk.ac.ebi.spot.ontotools.curation.service.TraitsService; - -import java.util.List; - -@Service -public class TraitsServiceImpl implements TraitsService { - - private static final Logger log = LoggerFactory.getLogger(TraitsService.class); - - @Autowired - private TraitRepository traitRepository; - - @Override - public List getTraits() { - log.info("Request to retrieve all traits."); - return traitRepository.findAll(); - } -} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/UserServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/UserServiceImpl.java index bd5dde0..2914d72 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/UserServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/UserServiceImpl.java @@ -4,11 +4,15 @@ import org.slf4j.LoggerFactory; import org.springframework.beans.factory.annotation.Autowired; import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.Role; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.exception.EntityNotFoundException; import uk.ac.ebi.spot.ontotools.curation.repository.UserRepository; import uk.ac.ebi.spot.ontotools.curation.service.UserService; +import java.util.ArrayList; import java.util.List; import java.util.Optional; @@ -45,4 +49,36 @@ public User findRandomSuperUser() { log.info("Returning user: {}", superUsers.get(0).getEmail()); return superUsers.get(0); } + + @Override + public void addProjectToUser(User user, Project project, ProjectRole role) { + log.info("Adding project [{}] to user [{}] with role: {}", project.getId(), user.getName(), role.name()); + if (user.getRoles() == null) { + user.setRoles(new ArrayList<>()); + } + user.getRoles().add(new Role(project.getId(), role)); + userRepository.save(user); + } + + @Override + public void removeProjectFromUser(User user, String projectId) { + log.info("Removing project [{}] from user: {}", projectId, user.getName()); + if (user.getRoles() == null) { + user.setRoles(new ArrayList<>()); + } + + Role found = null; + for (Role role : user.getRoles()) { + if (role.getProjectId().equals(projectId)) { + found = role; + break; + } + } + if (found != null) { + user.getRoles().remove(found); + userRepository.save(user); + } else { + log.warn("Unable to find project [{}] associated with user: {}", projectId, user.getName()); + } + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java index a8affd4..941f4d2 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java @@ -21,4 +21,14 @@ public static List sToList(String s) { return list; } + public static String ontoFromIRI(String iri) { + int index = iri.lastIndexOf("/"); + String rest = iri.substring(index + 1); + index = rest.indexOf("_"); + if (index == -1) { + return iri; + } + return rest.substring(0, index); + } + } diff --git a/src/main/resources/application.yml b/src/main/resources/application.yml index e5fa638..48063f7 100644 --- a/src/main/resources/application.yml +++ b/src/main/resources/application.yml @@ -9,7 +9,7 @@ logging: ontotools-curation: auth: - enabled: false + enabled: true cert: aap.der ontotools: diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index 7d2defd..af59f35 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -1,5 +1,6 @@ package uk.ac.ebi.spot.ontotools.curation; +import com.fasterxml.jackson.core.type.TypeReference; import com.fasterxml.jackson.databind.ObjectMapper; import org.junit.Before; import org.junit.runner.RunWith; @@ -10,13 +11,27 @@ import org.springframework.core.task.SyncTaskExecutor; import org.springframework.core.task.TaskExecutor; import org.springframework.data.mongodb.core.MongoTemplate; +import org.springframework.http.MediaType; import org.springframework.test.context.ContextConfiguration; import org.springframework.test.context.junit4.SpringJUnit4ClassRunner; import org.springframework.test.web.servlet.MockMvc; import org.springframework.test.web.servlet.setup.MockMvcBuilders; import org.springframework.web.context.WebApplicationContext; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.AuthToken; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.repository.AuthTokenRepository; import uk.ac.ebi.spot.ontotools.curation.repository.UserRepository; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectCreationDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; + +import java.util.ArrayList; + +import static org.junit.Assert.*; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.post; +import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; @RunWith(SpringJUnit4ClassRunner.class) @SpringBootTest @@ -41,22 +56,52 @@ public TaskExecutor taskExecutor() { @Autowired private UserRepository userRepository; + @Autowired + private AuthTokenRepository authTokenRepository; + protected MockMvc mockMvc; protected ObjectMapper mapper; - protected User user; + protected User user1; + + protected User user2; @Before - public void setup() { + public void setup() throws Exception { mongoTemplate.getDb().drop(); mapper = new ObjectMapper(); mockMvc = MockMvcBuilders.webAppContextSetup(webApplicationContext).build(); - user = new User(); - user.setName("Test User"); - user.setEmail("test@test.comt"); - user.setSuperUser(true); - user = userRepository.insert(user); + user1 = userRepository.insert(new User(null, "Test User 1", "test1@test.com", new ArrayList<>(), false)); + authTokenRepository.insert(new AuthToken(null, "token1", "test1@test.com")); + + user2 = userRepository.insert(new User(null, "Test User 2", "test2@test.com", new ArrayList<>(), false)); + authTokenRepository.insert(new AuthToken(null, "token2", "test2@test.com")); } + + protected ProjectDto createProject(String name, String token) throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS; + ProjectCreationDto projectCreationDto = new ProjectCreationDto(name, "Description", null, null); + + String response = mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectCreationDto)) + .header(IDPConstants.JWT_TOKEN, token)) + .andExpect(status().isCreated()) + .andReturn() + .getResponse() + .getContentAsString(); + + ProjectDto actual = mapper.readValue(response, new TypeReference() { + }); + assertEquals(projectCreationDto.getName(), actual.getName()); + assertEquals(projectCreationDto.getDescription(), actual.getDescription()); + assertNotNull(actual.getDatasources()); + assertNotNull(actual.getOntologies()); + assertTrue(actual.getDatasources().isEmpty()); + assertTrue(actual.getOntologies().isEmpty()); + return actual; + } + } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java new file mode 100644 index 0000000..12bcad7 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java @@ -0,0 +1,143 @@ +package uk.ac.ebi.spot.ontotools.curation; + +import com.fasterxml.jackson.core.type.TypeReference; +import org.junit.Test; +import org.springframework.http.MediaType; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; + +import java.util.Arrays; +import java.util.List; + +import static org.junit.Assert.assertEquals; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.*; +import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; + +public class ProjectsControllerTest extends IntegrationTest { + + /** + * POST /v1/projects + */ + @Test + public void shouldCreateProject() throws Exception { + super.createProject("New Project", "token1"); + } + + /** + * GET /v1/projects + */ + @Test + public void shouldGetProjects() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1"); + super.createProject("New Project 2", "token2"); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS; + String response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + List projectList = mapper.readValue(response, new TypeReference>() { + }); + assertEquals(1, projectList.size()); + + ProjectDto actual = projectList.get(0); + assertEquals(projectDto.getName(), actual.getName()); + assertEquals(projectDto.getDescription(), actual.getDescription()); + } + + /** + * GET /v1/projects/{projectId} + */ + @Test + public void shouldGetProject() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1"); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); + String response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + ProjectDto actual = mapper.readValue(response, new TypeReference() { + }); + assertEquals(projectDto.getName(), actual.getName()); + assertEquals(projectDto.getDescription(), actual.getDescription()); + } + + /** + * PUT /v1/projects/{projectId} + */ + @Test + public void shouldUpdateProject() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1"); + ProjectDto updatedProject = new ProjectDto(projectDto.getId(), + "New Name", + projectDto.getDescription(), + Arrays.asList(new String[]{"gwas"}), + Arrays.asList(new String[]{"ordo"}), + projectDto.getCreated()); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); + String response = mockMvc.perform(put(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(updatedProject)) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + ProjectDto actual = mapper.readValue(response, new TypeReference() { + }); + assertEquals(updatedProject.getName(), actual.getName()); + assertEquals(updatedProject.getDescription(), actual.getDescription()); + assertEquals(updatedProject.getDatasources(), actual.getDatasources()); + assertEquals(updatedProject.getOntologies(), actual.getOntologies()); + } + + /** + * PUT /v1/projects/{projectId} + */ + @Test + public void shouldNotUpdateProject() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1"); + ProjectDto updatedProject = new ProjectDto(projectDto.getId(), + "New Name", + projectDto.getDescription(), + Arrays.asList(new String[]{"gwas"}), + Arrays.asList(new String[]{"ordo"}), + projectDto.getCreated()); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); + mockMvc.perform(put(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(updatedProject)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isForbidden()); + } + + /** + * DELETE /v1/projects/{projectId} + */ + @Test + public void shouldDeleteProject() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1"); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); + mockMvc.perform(delete(endpoint) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()); + + mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isNotFound()); + } +} diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/SourcesControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/SourcesControllerTest.java new file mode 100644 index 0000000..e87a685 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/SourcesControllerTest.java @@ -0,0 +1,107 @@ +package uk.ac.ebi.spot.ontotools.curation; + +import com.fasterxml.jackson.core.type.TypeReference; +import org.junit.Test; +import org.springframework.http.MediaType; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.SourceType; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceCreationDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; + +import java.util.List; + +import static org.junit.Assert.assertEquals; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.get; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.post; +import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; + +public class SourcesControllerTest extends IntegrationTest { + + private ProjectDto projectDto; + + @Override + public void setup() throws Exception { + super.setup(); + projectDto = createProject("New Project", "token1"); + } + + /** + * POST /v1/projects/{projectId}/sources + */ + @Test + public void shouldCreateSource() throws Exception { + createSource(); + } + + /** + * GET /v1/projects/{projectId}/sources + */ + @Test + public void shouldGetSources() throws Exception { + SourceDto sourceDto = createSource(); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_SOURCES; + String response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + List sourcesList = mapper.readValue(response, new TypeReference>() { + }); + assertEquals(1, sourcesList.size()); + + SourceDto actual = sourcesList.get(0); + assertEquals(sourceDto.getName(), actual.getName()); + assertEquals(sourceDto.getDescription(), actual.getDescription()); + } + + /** + * GET /v1/projects/{projectId}/sources/{sourceId} + */ + @Test + public void shouldGetSource() throws Exception { + SourceDto sourceDto = createSource(); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_SOURCES + "/" + sourceDto.getId(); + String response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + SourceDto actual = mapper.readValue(response, new TypeReference() { + }); + assertEquals(sourceDto.getName(), actual.getName()); + assertEquals(sourceDto.getDescription(), actual.getDescription()); + } + + private SourceDto createSource() throws Exception { + SourceCreationDto sourceCreationDto = new SourceCreationDto("Source name", + "Description", + null, + SourceType.LOCAL.name()); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_SOURCES; + + String response = mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(sourceCreationDto)) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isCreated()) + .andReturn() + .getResponse() + .getContentAsString(); + + SourceDto actual = mapper.readValue(response, new TypeReference() { + }); + assertEquals(sourceCreationDto.getName(), actual.getName()); + assertEquals(sourceCreationDto.getDescription(), actual.getDescription()); + assertEquals(sourceCreationDto.getType(), actual.getType()); + return actual; + } +} diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/TraitsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/TraitsControllerTest.java deleted file mode 100644 index 98870ce..0000000 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/TraitsControllerTest.java +++ /dev/null @@ -1,78 +0,0 @@ -package uk.ac.ebi.spot.ontotools.curation; - -import com.fasterxml.jackson.core.type.TypeReference; -import org.apache.commons.lang3.RandomStringUtils; -import org.joda.time.DateTime; -import org.junit.Test; -import org.springframework.beans.factory.annotation.Autowired; -import org.springframework.http.MediaType; -import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; -import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; -import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; -import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; -import uk.ac.ebi.spot.ontotools.curation.domain.Trait; -import uk.ac.ebi.spot.ontotools.curation.repository.MappingRepository; -import uk.ac.ebi.spot.ontotools.curation.repository.OntologyTermRepository; -import uk.ac.ebi.spot.ontotools.curation.repository.TraitRepository; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.TraitDto; -import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; - -import java.util.List; - -import static org.junit.Assert.assertEquals; -import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.get; -import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; - -public class TraitsControllerTest extends IntegrationTest { - - @Autowired - private TraitRepository traitRepository; - - @Autowired - private OntologyTermRepository ontologyTermRepository; - - @Autowired - private MappingRepository mappingRepository; - - private OntologyTerm ontologyTerm; - - private Trait trait; - - @Override - public void setup() { - super.setup(); - Provenance provenance = new Provenance(super.user.getId(), DateTime.now()); - - ontologyTerm = ontologyTermRepository.insert(new OntologyTerm(RandomStringUtils.randomAlphabetic(10), - RandomStringUtils.randomAlphabetic(10), - RandomStringUtils.randomAlphabetic(10), - RandomStringUtils.randomAlphabetic(10), - RandomStringUtils.randomAlphabetic(10), - RandomStringUtils.randomAlphabetic(10))); - trait = traitRepository.insert(new Trait("test", provenance)); - mappingRepository.insert(new Mapping(trait.getId(), ontologyTerm.getId(), provenance)); - } - - /** - * GET /v1/traits - */ - @Test - public void shouldGetTraits() throws Exception { - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_TRAITS; - - String response = mockMvc.perform(get(endpoint) - .contentType(MediaType.APPLICATION_JSON)) - .andExpect(status().isOk()) - .andReturn() - .getResponse() - .getContentAsString(); - - List actual = mapper.readValue(response, new TypeReference>() { - }); - assertEquals(1, actual.size()); - TraitDto traitDto = actual.get(0); - - assertEquals(trait.getName(), traitDto.getName()); - assertEquals(ontologyTerm.getCurie(), traitDto.getCurrentMapping().getOntologyTerm().getCurie()); - } -} From 7dde0bf8493bb98baf3d3df1f603080af91a8b20 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Fri, 5 Feb 2021 20:31:16 +0800 Subject: [PATCH 05/72] WIP: Mapping suggestions. --- .../curation/constants/CurationConstants.java | 2 +- .../domain/ExternalServiceConfig.java | 28 +++++ .../curation/domain/OntologyTerm.java | 20 ++-- .../ExternalServiceConfigRepository.java | 10 ++ .../repository/OntologyTermRepository.java | 2 + .../ExternalServiceConfigDtoAssembler.java | 31 +++++ .../controller/PlatformAdminController.java | 71 ++++++++++++ .../rest/controller/ProjectsController.java | 15 +++ .../rest/controller/SourcesController.java | 12 ++ .../dto/config/ExternalServiceConfigDto.java | 39 +++++++ .../curation/rest/dto/ols/OLSTermDto.java | 9 ++ .../rest/dto/oxo/OXOMappingResponseDto.java | 11 +- .../curation/service/ConfigListener.java | 10 ++ .../curation/service/ConfigRegistry.java | 9 ++ .../service/ExternalServiceConfigService.java | 14 +++ .../curation/service/MappingService.java | 7 +- .../service/MappingSuggestionsService.java | 8 ++ .../curation/service/OntologyTermService.java | 2 + .../curation/service/ZoomaService.java | 4 +- .../service/impl/ConfigRegistryImpl.java | 36 ++++++ .../ExternalServiceConfigServiceImpl.java | 66 +++++++++++ .../service/impl/MappingServiceImpl.java | 106 ++++++++++++++---- .../impl/MappingSuggestionsServiceImpl.java | 20 ++++ .../curation/service/impl/OLSServiceImpl.java | 37 +++++- .../curation/service/impl/OXOServiceImpl.java | 53 ++++++++- .../service/impl/OntologyTermServiceImpl.java | 8 ++ .../service/impl/ZoomaServiceImpl.java | 17 +-- .../ontotools/curation/util/CurationUtil.java | 18 +++ .../ontotools/curation/IntegrationTest.java | 3 + .../curation/PlatformAdminControllerTest.java | 96 ++++++++++++++++ .../ontotools/curation/ZoomaServiceTest.java | 32 +++--- 31 files changed, 722 insertions(+), 74 deletions(-) create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ExternalServiceConfig.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ExternalServiceConfigRepository.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ExternalServiceConfigDtoAssembler.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/PlatformAdminController.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/config/ExternalServiceConfigDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ConfigListener.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ConfigRegistry.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ExternalServiceConfigService.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ConfigRegistryImpl.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ExternalServiceConfigServiceImpl.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/PlatformAdminControllerTest.java diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java index 24835cf..93f6af5 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java @@ -6,7 +6,7 @@ public class CurationConstants { public static final String API_SOURCES = "/sources"; - public static final String API_TRAITS = "/traits"; + public static final String API_PLATFORM_ADMIN = "/platform-admin"; public static final String API_MAPPINGS = "/mappings"; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ExternalServiceConfig.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ExternalServiceConfig.java new file mode 100644 index 0000000..286a11b --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ExternalServiceConfig.java @@ -0,0 +1,28 @@ +package uk.ac.ebi.spot.ontotools.curation.domain; + +import lombok.AllArgsConstructor; +import lombok.Getter; +import lombok.NoArgsConstructor; +import lombok.Setter; +import org.springframework.data.annotation.Id; +import org.springframework.data.mongodb.core.index.Indexed; +import org.springframework.data.mongodb.core.mapping.Document; + +import java.util.List; + +@Document(collection = "externalServiceConfigs") +@Getter +@Setter +@AllArgsConstructor +@NoArgsConstructor +public class ExternalServiceConfig { + + @Id + private String id; + + @Indexed(unique = true) + private String name; + + private List aliases; + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/OntologyTerm.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/OntologyTerm.java index 0c31373..708ec46 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/OntologyTerm.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/OntologyTerm.java @@ -1,13 +1,18 @@ package uk.ac.ebi.spot.ontotools.curation.domain; +import lombok.AllArgsConstructor; import lombok.Getter; +import lombok.NoArgsConstructor; import lombok.Setter; import org.springframework.data.annotation.Id; +import org.springframework.data.mongodb.core.index.Indexed; import org.springframework.data.mongodb.core.mapping.Document; @Document(collection = "ontologyTerms") @Getter @Setter +@NoArgsConstructor +@AllArgsConstructor public class OntologyTerm { @Id @@ -17,6 +22,9 @@ public class OntologyTerm { private String iri; + @Indexed + private String iriHash; + private String label; private String status; @@ -25,16 +33,4 @@ public class OntologyTerm { private String crossRefs; - public OntologyTerm() { - - } - - public OntologyTerm(String curie, String iri, String label, String status, String description, String crossRefs) { - this.curie = curie; - this.iri = iri; - this.label = label; - this.status = status; - this.description = description; - this.crossRefs = crossRefs; - } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ExternalServiceConfigRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ExternalServiceConfigRepository.java new file mode 100644 index 0000000..b6c3d1b --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ExternalServiceConfigRepository.java @@ -0,0 +1,10 @@ +package uk.ac.ebi.spot.ontotools.curation.repository; + +import org.springframework.data.mongodb.repository.MongoRepository; +import uk.ac.ebi.spot.ontotools.curation.domain.ExternalServiceConfig; + +import java.util.Optional; + +public interface ExternalServiceConfigRepository extends MongoRepository { + Optional findByName(String name); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java index f9a4aae..e1a2a1d 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java @@ -7,4 +7,6 @@ public interface OntologyTermRepository extends MongoRepository { List findByIdIn(List ontoTermIds); + + List findByIriHash(String iriHash); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ExternalServiceConfigDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ExternalServiceConfigDtoAssembler.java new file mode 100644 index 0000000..d51adbd --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ExternalServiceConfigDtoAssembler.java @@ -0,0 +1,31 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.assembler; + +import uk.ac.ebi.spot.ontotools.curation.domain.ExternalServiceConfig; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.config.ExternalServiceConfigDto; +import uk.ac.ebi.spot.ontotools.curation.util.CurationUtil; + +import java.util.ArrayList; +import java.util.HashMap; +import java.util.List; +import java.util.Map; + +public class ExternalServiceConfigDtoAssembler { + + public static ExternalServiceConfigDto assemble(ExternalServiceConfig externalServiceConfig) { + Map map = new HashMap<>(); + if (externalServiceConfig.getAliases() != null) { + map = CurationUtil.parseAliases(externalServiceConfig.getAliases()); + } + return new ExternalServiceConfigDto(externalServiceConfig.getName(), map); + } + + public static ExternalServiceConfig disassemble(ExternalServiceConfigDto externalServiceConfig) { + List aliases = new ArrayList<>(); + if (externalServiceConfig.getAliases() != null) { + for (String key : externalServiceConfig.getAliases().keySet()) { + aliases.add(key + "::" + externalServiceConfig.getAliases().get(key)); + } + } + return new ExternalServiceConfig(null, externalServiceConfig.getServiceName(), aliases); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/PlatformAdminController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/PlatformAdminController.java new file mode 100644 index 0000000..f32cd0c --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/PlatformAdminController.java @@ -0,0 +1,71 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.controller; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.http.HttpStatus; +import org.springframework.http.MediaType; +import org.springframework.web.bind.annotation.*; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.domain.ExternalServiceConfig; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.exception.AuthorizationException; +import uk.ac.ebi.spot.ontotools.curation.rest.assembler.ExternalServiceConfigDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.config.ExternalServiceConfigDto; +import uk.ac.ebi.spot.ontotools.curation.service.ExternalServiceConfigService; +import uk.ac.ebi.spot.ontotools.curation.service.JWTService; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; +import uk.ac.ebi.spot.ontotools.curation.util.HeadersUtil; + +import javax.servlet.http.HttpServletRequest; +import javax.validation.Valid; +import java.util.List; +import java.util.stream.Collectors; + +@RestController +@RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PLATFORM_ADMIN) +public class PlatformAdminController { + + private static final Logger log = LoggerFactory.getLogger(PlatformAdminController.class); + + @Autowired + private JWTService jwtService; + + @Autowired + private ExternalServiceConfigService externalServiceConfigService; + + /** + * PUT /v1/platform-admin + */ + @PutMapping(consumes = MediaType.APPLICATION_JSON_VALUE, + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.OK) + public ExternalServiceConfigDto updateConfig(@RequestBody @Valid ExternalServiceConfigDto externalServiceConfigDto, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to update config for service: {}", user.getEmail(), externalServiceConfigDto.getServiceName()); + if (!user.isSuperUser()) { + log.error("Invalid access control for user: {}", user.getEmail()); + throw new AuthorizationException("Invalid access control for user: " + user.getEmail()); + } + + ExternalServiceConfig updated = externalServiceConfigService.updateConfig(ExternalServiceConfigDtoAssembler.disassemble(externalServiceConfigDto)); + return ExternalServiceConfigDtoAssembler.assemble(updated); + } + + /** + * GET /v1/platform-admin + */ + @GetMapping(produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.OK) + public List getConfigs(HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to retrieve platform config.", user.getEmail()); + if (!user.isSuperUser()) { + log.error("Invalid access control for user: {}", user.getEmail()); + throw new AuthorizationException("Invalid access control for user: " + user.getEmail()); + } + + List configs = externalServiceConfigService.retrieveConfigs(); + return configs.stream().map(ExternalServiceConfigDtoAssembler::assemble).collect(Collectors.toList()); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java index c54b312..b678e16 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java @@ -41,6 +41,9 @@ public class ProjectsController { @Autowired private UserService userService; + /** + * POST /v1/projects + */ @PostMapping(consumes = MediaType.APPLICATION_JSON_VALUE, produces = MediaType.APPLICATION_JSON_VALUE) @ResponseStatus(HttpStatus.CREATED) @@ -52,6 +55,9 @@ public ProjectDto createProject(@RequestBody @Valid ProjectCreationDto projectCr return ProjectDtoAssembler.assemble(created, user); } + /** + * GET /v1/projects + */ @GetMapping(produces = MediaType.APPLICATION_JSON_VALUE) @ResponseStatus(HttpStatus.OK) public List getProjects(HttpServletRequest request) { @@ -67,6 +73,9 @@ public List getProjects(HttpServletRequest request) { return result; } + /** + * GET /v1/projects/{projectId} + */ @GetMapping(value = "/{projectId}", produces = MediaType.APPLICATION_JSON_VALUE) @ResponseStatus(HttpStatus.OK) @@ -77,6 +86,9 @@ public ProjectDto getProject(@PathVariable String projectId, HttpServletRequest return ProjectDtoAssembler.assemble(project, user); } + /** + * PUT /v1/projects/{projectId} + */ @PutMapping(value = "/{projectId}", consumes = MediaType.APPLICATION_JSON_VALUE, produces = MediaType.APPLICATION_JSON_VALUE) @@ -88,6 +100,9 @@ public ProjectDto updateProject(@RequestBody @Valid ProjectDto projectDto, @Path return ProjectDtoAssembler.assemble(updated, user); } + /** + * DELETE /v1/projects/{projectId} + */ @DeleteMapping(value = "/{projectId}", produces = MediaType.TEXT_PLAIN_VALUE) @ResponseStatus(HttpStatus.OK) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java index a52bb5c..f271aa0 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java @@ -46,6 +46,9 @@ public class SourcesController { @Autowired private EntityService entityService; + /** + * POST /v1/projects/{projectId}/sources + */ @PostMapping(value = "/{projectId}" + CurationConstants.API_SOURCES, consumes = MediaType.APPLICATION_JSON_VALUE, produces = MediaType.APPLICATION_JSON_VALUE) @@ -58,6 +61,9 @@ public SourceDto createSource(@RequestBody @Valid SourceCreationDto sourceCreati return SourceDtoAssembler.assemble(created, user); } + /** + * GET /v1/projects/{projectId}/sources + */ @GetMapping(value = "/{projectId}" + CurationConstants.API_SOURCES, produces = MediaType.APPLICATION_JSON_VALUE) @ResponseStatus(HttpStatus.OK) @@ -74,6 +80,9 @@ public List getSources(@PathVariable String projectId, HttpServletReq return result; } + /** + * GET /v1/projects/{projectId}/sources/{sourceId} + */ @GetMapping(value = "/{projectId}" + CurationConstants.API_SOURCES + "/{sourceId}", produces = MediaType.APPLICATION_JSON_VALUE) @ResponseStatus(HttpStatus.OK) @@ -85,6 +94,9 @@ public SourceDto getSource(@PathVariable String projectId, @PathVariable String return SourceDtoAssembler.assemble(source, user); } + /** + * POST /v1/projects/{projectId}/sources/{sourceId} + */ @PutMapping(value = "/{projectId}" + CurationConstants.API_SOURCES + "/{sourceId}", produces = MediaType.APPLICATION_JSON_VALUE) @ResponseStatus(HttpStatus.OK) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/config/ExternalServiceConfigDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/config/ExternalServiceConfigDto.java new file mode 100644 index 0000000..c285512 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/config/ExternalServiceConfigDto.java @@ -0,0 +1,39 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.config; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import javax.validation.constraints.NotNull; +import java.io.Serializable; +import java.util.Map; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class ExternalServiceConfigDto implements Serializable { + + private static final long serialVersionUID = 4777554475058064805L; + + @NotNull + @JsonProperty("serviceName") + private final String serviceName; + + @JsonProperty("aliases") + private final Map aliases; + + @JsonCreator + public ExternalServiceConfigDto(@JsonProperty("serviceName") String serviceName, + @JsonProperty("aliases") Map aliases) { + this.serviceName = serviceName; + this.aliases = aliases; + } + + public String getServiceName() { + return serviceName; + } + + public Map getAliases() { + return aliases; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSTermDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSTermDto.java index ddd7400..9be4c98 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSTermDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSTermDto.java @@ -18,6 +18,9 @@ public final class OLSTermDto implements Serializable { @JsonProperty("iri") private final String iri; + @JsonProperty("curie") + private final String curie; + @JsonProperty("obo_id") private final String oboId; @@ -29,10 +32,12 @@ public final class OLSTermDto implements Serializable { @JsonCreator public OLSTermDto(@JsonProperty("iri") String iri, + @JsonProperty("curie") String curie, @JsonProperty("obo_id") String oboId, @JsonProperty("label") String label, @JsonProperty("is_obsolete") Boolean obsolete) { this.iri = iri; + this.curie = curie; this.oboId = oboId; this.label = label; this.obsolete = obsolete; @@ -42,6 +47,10 @@ public String getIri() { return iri; } + public String getCurie() { + return curie; + } + public String getOboId() { return oboId; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOMappingResponseDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOMappingResponseDto.java index 8528dd6..1378e6d 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOMappingResponseDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOMappingResponseDto.java @@ -21,11 +21,16 @@ public final class OXOMappingResponseDto implements Serializable { @JsonProperty("label") private final String label; + @JsonProperty("targetPrefix") + private final String targetPrefix; + @JsonCreator public OXOMappingResponseDto(@JsonProperty("curie") String curie, - @JsonProperty("label") String label) { + @JsonProperty("label") String label, + @JsonProperty("targetPrefix") String targetPrefix) { this.curie = curie; this.label = label; + this.targetPrefix = targetPrefix; } public String getCurie() { @@ -35,4 +40,8 @@ public String getCurie() { public String getLabel() { return label; } + + public String getTargetPrefix() { + return targetPrefix; + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ConfigListener.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ConfigListener.java new file mode 100644 index 0000000..c0c4d7b --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ConfigListener.java @@ -0,0 +1,10 @@ +package uk.ac.ebi.spot.ontotools.curation.service; + +import java.util.List; + +public interface ConfigListener { + + void updateAliases(List aliases); + + String getName(); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ConfigRegistry.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ConfigRegistry.java new file mode 100644 index 0000000..4842c90 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ConfigRegistry.java @@ -0,0 +1,9 @@ +package uk.ac.ebi.spot.ontotools.curation.service; + +import uk.ac.ebi.spot.ontotools.curation.domain.ExternalServiceConfig; + +public interface ConfigRegistry { + void registerListener(ConfigListener configListener); + + void updateAliases(ExternalServiceConfig externalServiceConfig); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ExternalServiceConfigService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ExternalServiceConfigService.java new file mode 100644 index 0000000..270a0b5 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ExternalServiceConfigService.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.service; + +import uk.ac.ebi.spot.ontotools.curation.domain.ExternalServiceConfig; + +import java.util.List; +import java.util.Map; + +public interface ExternalServiceConfigService { + Map retrieveAliases(String serviceName); + + List retrieveConfigs(); + + ExternalServiceConfig updateConfig(ExternalServiceConfig externalServiceConfig); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java index 9912f9a..3e072e6 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java @@ -1,11 +1,8 @@ package uk.ac.ebi.spot.ontotools.curation.service; -import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; - -import java.util.List; -import java.util.Map; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; public interface MappingService { - void runAutoMapping(String sourceId); + void runAutoMapping(String sourceId, Project project); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingSuggestionsService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingSuggestionsService.java index a413d3b..4c07a86 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingSuggestionsService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingSuggestionsService.java @@ -1,5 +1,13 @@ package uk.ac.ebi.spot.ontotools.curation.service; +import uk.ac.ebi.spot.ontotools.curation.domain.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; + +import java.util.List; + public interface MappingSuggestionsService { + void createMappingSuggestion(Entity entity, OntologyTerm ontologyTerm); + + void deleteMappingSuggestionsExcluding(Entity entity, List ontologyTerms); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java index 65a7786..f8042e8 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java @@ -7,4 +7,6 @@ public interface OntologyTermService { Map getOntologyTermsById(List ontoTermIds); + + OntologyTerm createTerm(String iri); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ZoomaService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ZoomaService.java index ddd468f..f0fe365 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ZoomaService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ZoomaService.java @@ -1,9 +1,11 @@ package uk.ac.ebi.spot.ontotools.curation.service; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.zooma.ZoomaResponseDto; + import java.util.List; import java.util.Map; public interface ZoomaService { - Map> annotate(String entityValue, List datasources, List ontologies); + List annotate(String entityValue, List datasources, List ontologies); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ConfigRegistryImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ConfigRegistryImpl.java new file mode 100644 index 0000000..32c5aa2 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ConfigRegistryImpl.java @@ -0,0 +1,36 @@ +package uk.ac.ebi.spot.ontotools.curation.service.impl; + +import org.springframework.scheduling.annotation.Async; +import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.domain.ExternalServiceConfig; +import uk.ac.ebi.spot.ontotools.curation.service.ConfigListener; +import uk.ac.ebi.spot.ontotools.curation.service.ConfigRegistry; + +import javax.annotation.PostConstruct; +import java.util.HashMap; +import java.util.Map; + +@Service +public class ConfigRegistryImpl implements ConfigRegistry { + + private Map configListenerMap; + + @PostConstruct + public void initialize() { + this.configListenerMap = new HashMap<>(); + } + + @Override + public void registerListener(ConfigListener configListener) { + this.configListenerMap.put(configListener.getName(), configListener); + } + + @Override + @Async + public void updateAliases(ExternalServiceConfig externalServiceConfig) { + ConfigListener configListener = configListenerMap.get(externalServiceConfig.getName()); + if (configListener != null) { + configListener.updateAliases(externalServiceConfig.getAliases()); + } + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ExternalServiceConfigServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ExternalServiceConfigServiceImpl.java new file mode 100644 index 0000000..c431644 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ExternalServiceConfigServiceImpl.java @@ -0,0 +1,66 @@ +package uk.ac.ebi.spot.ontotools.curation.service.impl; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.domain.ExternalServiceConfig; +import uk.ac.ebi.spot.ontotools.curation.exception.EntityNotFoundException; +import uk.ac.ebi.spot.ontotools.curation.repository.ExternalServiceConfigRepository; +import uk.ac.ebi.spot.ontotools.curation.service.ConfigRegistry; +import uk.ac.ebi.spot.ontotools.curation.service.ExternalServiceConfigService; +import uk.ac.ebi.spot.ontotools.curation.util.CurationUtil; + +import java.util.HashMap; +import java.util.List; +import java.util.Map; +import java.util.Optional; + +@Service +public class ExternalServiceConfigServiceImpl implements ExternalServiceConfigService { + + private static final Logger log = LoggerFactory.getLogger(ExternalServiceConfigService.class); + + @Autowired + private ExternalServiceConfigRepository externalServiceConfigRepository; + + @Autowired + private ConfigRegistry configRegistry; + + @Override + public Map retrieveAliases(String serviceName) { + log.info("Retrieving aliases for: {}", serviceName); + Map map = new HashMap<>(); + Optional externalServiceConfigOp = externalServiceConfigRepository.findByName(serviceName); + if (!externalServiceConfigOp.isPresent()) { + log.error("Unable to find config for service: {}", serviceName); + return map; + } + + List aliases = externalServiceConfigOp.get().getAliases(); + return CurationUtil.parseAliases(aliases); + } + + @Override + public List retrieveConfigs() { + log.info("Retrieving config for all services."); + List list = externalServiceConfigRepository.findAll(); + log.info("Found {} service configs.", list.size()); + return list; + } + + @Override + public ExternalServiceConfig updateConfig(ExternalServiceConfig externalServiceConfig) { + log.info("Updating config for: {}", externalServiceConfig.getName()); + Optional externalServiceConfigOp = externalServiceConfigRepository.findByName(externalServiceConfig.getName()); + if (!externalServiceConfigOp.isPresent()) { + log.error("Unable to find config for service: {}", externalServiceConfig.getName()); + throw new EntityNotFoundException("Unable to find config for service: " + externalServiceConfig.getName()); + } + ExternalServiceConfig existing = externalServiceConfigOp.get(); + existing.setAliases(externalServiceConfig.getAliases()); + existing = externalServiceConfigRepository.save(existing); + configRegistry.updateAliases(existing); + return existing; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java index 0d713d5..5e19db6 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java @@ -6,11 +6,14 @@ import org.springframework.scheduling.annotation.Async; import org.springframework.stereotype.Service; import uk.ac.ebi.spot.ontotools.curation.domain.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; import uk.ac.ebi.spot.ontotools.curation.repository.EntityRepository; import uk.ac.ebi.spot.ontotools.curation.repository.MappingRepository; -import uk.ac.ebi.spot.ontotools.curation.service.MappingService; -import uk.ac.ebi.spot.ontotools.curation.service.ZoomaService; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSTermDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.oxo.OXOMappingResponseDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.zooma.ZoomaResponseDto; +import uk.ac.ebi.spot.ontotools.curation.service.*; import uk.ac.ebi.spot.ontotools.curation.util.CurationUtil; import java.util.*; @@ -26,11 +29,24 @@ public class MappingServiceImpl implements MappingService { @Autowired private MappingRepository mappingRepository; + @Autowired + private MappingSuggestionsService mappingSuggestionsService; + @Autowired private EntityRepository entityRepository; + @Autowired private ZoomaService zoomaService; + @Autowired + private OntologyTermService ontologyTermService; + + @Autowired + private OLSService olsService; + + @Autowired + private OXOService oxoService; + @Override @Async public void runAutoMapping(String sourceId, Project project) { @@ -44,43 +60,91 @@ private void autoMap(Entity entity, Project project) { /** * Retrieve annotations from Zooma from datasources stored in the project */ - Map> zoomaDSResults = zoomaService.annotate(entity.getName(), project.getDatasources(), null); + List zoomaResults = zoomaService.annotate(entity.getName(), project.getDatasources(), null); /** * Retrieve annotations from Zooma from ontologies stored in the project */ - Map> zoomaResults = zoomaService.annotate(entity.getName(), null, project.getOntologies()); + zoomaResults.addAll(zoomaService.annotate(entity.getName(), null, project.getOntologies())); List highConfidenceIRIs = new ArrayList<>(); Set finalIRIs = new HashSet<>(); - for (String confidence : zoomaDSResults.keySet()) { - if (zoomaDSResults.get(confidence).size() > 1) { - log.warn("Found suggestion with combined terms: {} | {}", entity, zoomaDSResults.get(confidence)); + for (ZoomaResponseDto zoomaResponseDto : zoomaResults) { + if (zoomaResponseDto.getSemanticTags().size() > 1) { + log.warn("Found suggestion with combined terms: {} | {}", entity, zoomaResponseDto.getSemanticTags()); continue; } - String suggestedTermIRI = zoomaDSResults.get(confidence).get(0); - if (confidence.equalsIgnoreCase(ZOOMA_CONFIDENCE_HIGH)) { + String suggestedTermIRI = zoomaResponseDto.getSemanticTags().get(0); + if (zoomaResponseDto.getConfidence().equalsIgnoreCase(ZOOMA_CONFIDENCE_HIGH)) { highConfidenceIRIs.add(suggestedTermIRI); } - if (project.getOntologies() != null && project.getOntologies().contains(CurationUtil.ontoFromIRI())) { + if (project.getOntologies() != null && project.getOntologies().contains(CurationUtil.ontoFromIRI(suggestedTermIRI))) { finalIRIs.add(suggestedTermIRI); } } + List termsCreated = new ArrayList<>(); for (String iri : finalIRIs) { - /** - * TODO: - * - Create ontology term - * - Create mapping suggestion - */ + OntologyTerm ontologyTerm = ontologyTermService.createTerm(iri); + termsCreated.add(ontologyTerm); + mappingSuggestionsService.createMappingSuggestion(entity, ontologyTerm); } - /** - * TODO: Find automatic mapping - */ - /** - * TODO: Delete previous mapping suggestions for the terms just created - */ + termsCreated.addAll(findExactMapping(entity, termsCreated, highConfidenceIRIs, project)); + mappingSuggestionsService.deleteMappingSuggestionsExcluding(entity, termsCreated); + } + + private List findExactMapping(Entity entity, List termsCreated, List highConfidenceIRIs, Project project) { + List ontoSuggestions = new ArrayList<>(); + + for (OntologyTerm ontologyTerm : termsCreated) { + if (highConfidenceIRIs.contains(ontologyTerm.getIri())) { + this.createMapping(entity, ontologyTerm); + log.info("Found high confidence mapping for [{}] in: {}", entity.getName(), ontologyTerm.getIri()); + return ontoSuggestions; + } + } + + for (OntologyTerm ontologyTerm : termsCreated) { + if (entity.getName().equalsIgnoreCase(ontologyTerm.getLabel())) { + this.createMapping(entity, ontologyTerm); + log.info("Found exact text matching for [{}] in: {}", entity.getName(), ontologyTerm.getIri()); + return ontoSuggestions; + } + } + + for (String iri : highConfidenceIRIs) { + String ontoId = CurationUtil.ontoFromIRI(iri); + List olsTerms = olsService.retrieveTerms(ontoId, iri); + if (olsTerms.size() > 1) { + log.warn("Found {} OLS results. Using only the first one to map to: {}", olsTerms.size(), entity.getName()); + } + if (olsTerms.isEmpty()) { + log.warn("Found no OLS results. Cannot continue mapping for: {}", entity.getName()); + continue; + } + + List oxoMappings = oxoService.findMapping(Arrays.asList(new String[]{olsTerms.get(0).getCurie()}), project.getOntologies()); + for (OXOMappingResponseDto oxoMappingResponseDto : oxoMappings) { + String targetOntoId = oxoMappingResponseDto.getTargetPrefix().toLowerCase(); + olsTerms = olsService.retrieveTerms(targetOntoId, oxoMappingResponseDto.getCurie()); + if (olsTerms.isEmpty()) { + continue; + } + String resultIri = olsTerms.get(0).getIri(); + OntologyTerm ontologyTerm = ontologyTermService.createTerm(resultIri); + ontoSuggestions.add(ontologyTerm); + mappingSuggestionsService.createMappingSuggestion(entity, ontologyTerm); + } + } + + return ontoSuggestions; + } + + /** + * TODO: Implement + */ + private void createMapping(Entity entity, OntologyTerm ontologyTerm) { } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java index d270909..1df3c79 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java @@ -2,13 +2,33 @@ import org.slf4j.Logger; import org.slf4j.LoggerFactory; +import org.springframework.scheduling.annotation.Async; import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.domain.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.service.MappingSuggestionsService; +import java.util.List; + @Service public class MappingSuggestionsServiceImpl implements MappingSuggestionsService { private static final Logger log = LoggerFactory.getLogger(MappingSuggestionsService.class); + /** + * TODO: Implement + */ + @Override + public void createMappingSuggestion(Entity entity, OntologyTerm ontologyTerm) { + } + + /** + * TODO: Implement + */ + @Override + @Async + public void deleteMappingSuggestionsExcluding(Entity entity, List ontologyTerms) { + + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OLSServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OLSServiceImpl.java index e1ba7dc..f1a77c0 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OLSServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OLSServiceImpl.java @@ -15,24 +15,50 @@ import uk.ac.ebi.spot.ontotools.curation.constants.RestInteractionConstants; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSResponseDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSTermDto; +import uk.ac.ebi.spot.ontotools.curation.service.ConfigListener; +import uk.ac.ebi.spot.ontotools.curation.service.ConfigRegistry; +import uk.ac.ebi.spot.ontotools.curation.service.ExternalServiceConfigService; import uk.ac.ebi.spot.ontotools.curation.service.OLSService; +import uk.ac.ebi.spot.ontotools.curation.util.CurationUtil; +import javax.annotation.PostConstruct; import java.util.ArrayList; import java.util.List; +import java.util.Map; @Service -public class OLSServiceImpl implements OLSService { +public class OLSServiceImpl implements OLSService, ConfigListener { private static final Logger log = LoggerFactory.getLogger(OLSService.class); + private static final String SERVICE_NAME = "OLS"; + @Autowired private RestInteractionConfig restInteractionConfig; @Autowired private RestTemplate restTemplate; + @Autowired + private ExternalServiceConfigService externalServiceConfigService; + + @Autowired + private ConfigRegistry configRegistry; + + private Map ontoAliases; + + @PostConstruct + public void initialize() { + configRegistry.registerListener(this); + this.ontoAliases = externalServiceConfigService.retrieveAliases(SERVICE_NAME); + } + public List retrieveTerms(String ontologyId, String identifierValue) { log.info("Calling OLS: {} - {}", ontologyId, identifierValue); + if (ontoAliases.containsKey(ontologyId.toLowerCase())) { + log.info("Replacing ontologyId [{}] with alias: {}", ontologyId, ontoAliases.get(ontologyId.toLowerCase())); + ontologyId = ontoAliases.get(ontologyId.toLowerCase()); + } String base = restInteractionConfig.getOlsOntologiesEndpoint() + "/" + ontologyId + RestInteractionConstants.OLS_TERMS; UriComponentsBuilder uriBuilder = UriComponentsBuilder.fromHttpUrl(base) .queryParam(RestInteractionConstants.OLS_IDTYPE_IRI, identifierValue); @@ -59,4 +85,13 @@ public List retrieveTerms(String ontologyId, String identifierValue) return new ArrayList<>(); } + @Override + public void updateAliases(List aliases) { + this.ontoAliases.putAll(CurationUtil.parseAliases(aliases)); + } + + @Override + public String getName() { + return SERVICE_NAME; + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OXOServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OXOServiceImpl.java index d86375e..bb88c47 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OXOServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OXOServiceImpl.java @@ -14,15 +14,18 @@ import uk.ac.ebi.spot.ontotools.curation.rest.dto.oxo.OXOMappingResponseDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.oxo.OXORequestDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.oxo.OXOResponseDto; -import uk.ac.ebi.spot.ontotools.curation.service.OLSService; -import uk.ac.ebi.spot.ontotools.curation.service.OXOService; +import uk.ac.ebi.spot.ontotools.curation.service.*; +import uk.ac.ebi.spot.ontotools.curation.util.CurationUtil; +import javax.annotation.PostConstruct; import java.util.ArrayList; import java.util.List; +import java.util.Map; @Service -public class OXOServiceImpl implements OXOService { +public class OXOServiceImpl implements OXOService, ConfigListener { + private static final String SERVICE_NAME = "OXO"; private static final Logger log = LoggerFactory.getLogger(OLSService.class); @@ -32,9 +35,24 @@ public class OXOServiceImpl implements OXOService { @Autowired private RestTemplate restTemplate; - public List findMapping(List ids, List ontologies) { - log.info("Calling OXO: {} - {}", ids, ontologies); + @Autowired + private ExternalServiceConfigService externalServiceConfigService; + + @Autowired + private ConfigRegistry configRegistry; + + private Map ontoAliases; + @PostConstruct + public void initialize() { + configRegistry.registerListener(this); + this.ontoAliases = externalServiceConfigService.retrieveAliases(SERVICE_NAME); + } + + public List findMapping(List ids, List projectOntologies) { + List ontologies = this.fixAliases(projectOntologies); + log.info("Calling OXO: {} - {} | {}", ids, projectOntologies, ontologies); + log.info(" -- "); try { HttpEntity httpEntity = restInteractionConfig.httpEntity() .withJsonBody(new OXORequestDto(ids, ontologies, restInteractionConfig.getOxoMappingDistance())) @@ -57,4 +75,29 @@ public List findMapping(List ids, List on } return new ArrayList<>(); } + + private List fixAliases(List ontologies) { + List result = new ArrayList<>(); + for (String ontology : ontologies) { + ontology = ontology.toLowerCase(); + if (ontoAliases.containsKey(ontology)) { + if (!result.contains(ontoAliases.get(ontology))) { + result.add(ontoAliases.get(ontology)); + } + } else { + result.add(ontoAliases.get(ontology)); + } + } + return result; + } + + @Override + public void updateAliases(List aliases) { + this.ontoAliases.putAll(CurationUtil.parseAliases(aliases)); + } + + @Override + public String getName() { + return SERVICE_NAME; + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java index 96ed371..17180db 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java @@ -30,4 +30,12 @@ public Map getOntologyTermsById(List ontoTermIds) } return mappingMap; } + + /** + * TODO: Implement + */ + @Override + public OntologyTerm createTerm(String iri) { + return null; + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ZoomaServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ZoomaServiceImpl.java index f2cc5bd..1468a27 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ZoomaServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ZoomaServiceImpl.java @@ -20,9 +20,7 @@ import java.net.URLEncoder; import java.nio.charset.StandardCharsets; import java.util.ArrayList; -import java.util.HashMap; import java.util.List; -import java.util.Map; @Service public class ZoomaServiceImpl implements ZoomaService { @@ -35,15 +33,14 @@ public class ZoomaServiceImpl implements ZoomaService { @Autowired private RestTemplate restTemplate; - public Map> annotate(String entityValue, List datasources, List ontologies) { + public List annotate(String entityValue, List datasources, List ontologies) { log.info("Calling Zooma for entity value: {}", entityValue); - Map> suggestionsMap = new HashMap<>(); String encodedString; try { encodedString = URLEncoder.encode(entityValue, StandardCharsets.UTF_8.toString()); } catch (UnsupportedEncodingException e) { log.error("Unable to encode string: {} - {}", entityValue, e.getMessage(), e); - return suggestionsMap; + return new ArrayList<>(); } UriComponentsBuilder uriBuilder = UriComponentsBuilder.fromHttpUrl(restInteractionConfig.getZoomaAnnotateEndpoint()) .queryParam(RestInteractionConstants.ZOOMA_PROPERTY_VALUE, encodedString) @@ -60,18 +57,12 @@ public Map> annotate(String entityValue, List datas if (response.getStatusCode().equals(HttpStatus.OK)) { log.info("[{}] Zooma: received {} suggestions.", entityValue, response.getBody().size()); - for (ZoomaResponseDto zoomaResponseDto : response.getBody()) { - if (zoomaResponseDto.getConfidence() != null && !zoomaResponseDto.getSemanticTags().isEmpty()) { - List suggestionsList = suggestionsMap.containsKey(zoomaResponseDto.getConfidence()) ? suggestionsMap.get(zoomaResponseDto.getConfidence()) : new ArrayList<>(); - suggestionsList.addAll(zoomaResponseDto.getSemanticTags()); - suggestionsMap.put(zoomaResponseDto.getConfidence(), suggestionsList); - } - } + return response.getBody(); } } catch (Exception e) { log.error("Unable to call Zooma: {}", e.getMessage(), e); } - return suggestionsMap; + return new ArrayList<>(); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java index 941f4d2..a1ec46f 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java @@ -1,7 +1,9 @@ package uk.ac.ebi.spot.ontotools.curation.util; import java.util.ArrayList; +import java.util.HashMap; import java.util.List; +import java.util.Map; public class CurationUtil { @@ -31,4 +33,20 @@ public static String ontoFromIRI(String iri) { return rest.substring(0, index); } + public static Map parseAliases(List aliasList) { + Map map = new HashMap<>(); + if (aliasList == null) { + return map; + } + + for (String alias : aliasList) { + String[] split = alias.split("::"); + if (split.length != 2) { + continue; + } + + map.put(split[0].trim().toLowerCase(), split[1].trim().toLowerCase()); + } + return map; + } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index af59f35..b2bb56e 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -78,6 +78,9 @@ public void setup() throws Exception { user2 = userRepository.insert(new User(null, "Test User 2", "test2@test.com", new ArrayList<>(), false)); authTokenRepository.insert(new AuthToken(null, "token2", "test2@test.com")); + + userRepository.insert(new User(null, "Super User", "super@test.com", new ArrayList<>(), true)); + authTokenRepository.insert(new AuthToken(null, "supertoken", "super@test.com")); } protected ProjectDto createProject(String name, String token) throws Exception { diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/PlatformAdminControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/PlatformAdminControllerTest.java new file mode 100644 index 0000000..f669c8a --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/PlatformAdminControllerTest.java @@ -0,0 +1,96 @@ +package uk.ac.ebi.spot.ontotools.curation; + +import com.fasterxml.jackson.core.type.TypeReference; +import org.junit.Test; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.http.MediaType; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; +import uk.ac.ebi.spot.ontotools.curation.domain.ExternalServiceConfig; +import uk.ac.ebi.spot.ontotools.curation.repository.ExternalServiceConfigRepository; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.config.ExternalServiceConfigDto; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; + +import java.util.Arrays; +import java.util.HashMap; +import java.util.List; +import java.util.Map; + +import static org.junit.Assert.assertEquals; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.get; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.put; +import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; + +public class PlatformAdminControllerTest extends IntegrationTest { + + @Autowired + private ExternalServiceConfigRepository externalServiceConfigRepository; + + @Override + public void setup() throws Exception { + super.setup(); + externalServiceConfigRepository.insert(new ExternalServiceConfig(null, "OLS", Arrays.asList(new String[]{"orphanet::ordo"}))); + } + + /** + * PUT /v1/platform-admin + */ + @Test + public void shouldUpdateConfig() throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PLATFORM_ADMIN; + Map newMap = new HashMap<>(); + newMap.put("orphanet", "ordo"); + newMap.put("efox", "efo"); + ExternalServiceConfigDto toUpdate = new ExternalServiceConfigDto("OLS", newMap); + String response = mockMvc.perform(put(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(toUpdate)) + .header(IDPConstants.JWT_TOKEN, "supertoken")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + ExternalServiceConfigDto actual = mapper.readValue(response, new TypeReference() { + }); + assertEquals("OLS", actual.getServiceName()); + assertEquals(newMap, actual.getAliases()); + } + + + /** + * GET /v1/platform-admin + */ + @Test + public void shouldGetConfigs() throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PLATFORM_ADMIN; + String response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "supertoken")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + List externalServiceConfigDtos = mapper.readValue(response, new TypeReference>() { + }); + assertEquals(1, externalServiceConfigDtos.size()); + + ExternalServiceConfigDto actual = externalServiceConfigDtos.get(0); + assertEquals("OLS", actual.getServiceName()); + Map expectedMap = new HashMap<>(); + expectedMap.put("orphanet", "ordo"); + assertEquals(expectedMap, actual.getAliases()); + } + + /** + * GET /v1/platform-admin + */ + @Test + public void shouldNotGetConfigs() throws Exception { + mockMvc.perform(get(GeneralCommon.API_V1 + CurationConstants.API_PLATFORM_ADMIN) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isForbidden()); + } +} diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ZoomaServiceTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ZoomaServiceTest.java index 5011634..f35ba59 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ZoomaServiceTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ZoomaServiceTest.java @@ -2,13 +2,12 @@ import org.junit.Test; import org.springframework.beans.factory.annotation.Autowired; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.zooma.ZoomaResponseDto; import uk.ac.ebi.spot.ontotools.curation.service.ZoomaService; import java.util.Arrays; import java.util.List; -import java.util.Map; -import static junit.framework.TestCase.assertTrue; import static org.junit.Assert.assertEquals; public class ZoomaServiceTest extends IntegrationTest { @@ -21,12 +20,12 @@ public void shouldAnnotateDatasources() { String entity = "achondroplasia"; List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); - Map> annotationResults = zoomaService.annotate(entity, datasources, null); + List annotationResults = zoomaService.annotate(entity, datasources, null); assertEquals(1, annotationResults.size()); - String key = annotationResults.keySet().iterator().next(); - assertEquals("GOOD", key); - assertEquals(1, annotationResults.get(key).size()); - assertEquals("http://www.orpha.net/ORDO/Orphanet_15", annotationResults.get(key).get(0)); + ZoomaResponseDto responseDto = annotationResults.get(0); + assertEquals("GOOD", responseDto.getConfidence()); + assertEquals(1, responseDto.getSemanticTags().size()); + assertEquals("http://www.orpha.net/ORDO/Orphanet_15", responseDto.getSemanticTags().get(0)); } @@ -35,12 +34,17 @@ public void shouldAnnotateOntologies() { String entity = "achondroplasia"; List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo"}); - Map> annotationResults = zoomaService.annotate(entity, null, ontologies); - assertEquals(1, annotationResults.size()); - String key = annotationResults.keySet().iterator().next(); - assertEquals("MEDIUM", key); - assertEquals(2, annotationResults.get(key).size()); - assertTrue(annotationResults.get(key).contains("http://www.orpha.net/ORDO/Orphanet_15")); - assertTrue(annotationResults.get(key).contains("http://purl.obolibrary.org/obo/MONDO_0007037")); + List annotationResults = zoomaService.annotate(entity, null, ontologies); + assertEquals(2, annotationResults.size()); + for (ZoomaResponseDto responseDto : annotationResults) { + assertEquals("MEDIUM", responseDto.getConfidence()); + assertEquals(1, responseDto.getSemanticTags().size()); + String semanticTag = responseDto.getSemanticTags().get(0); + if (semanticTag.contains("orpha")) { + assertEquals("http://www.orpha.net/ORDO/Orphanet_15", semanticTag); + } else { + assertEquals("http://purl.obolibrary.org/obo/MONDO_0007037", semanticTag); + } + } } } From b947fe8350e15cb95a001131baf622079486bd89 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Tue, 9 Feb 2021 23:07:23 +0800 Subject: [PATCH 06/72] Finalized matchmaking service. Added EntityController and associated utilities. --- install.txt | 6 + .../curation/constants/CurationConstants.java | 4 +- .../curation/constants/EntityStatus.java | 9 + .../curation/constants/MappingStatus.java | 12 +- .../curation/constants/ReviewStatus.java | 9 + .../curation/constants/TermStatus.java | 12 ++ .../ontotools/curation/domain/Entity.java | 4 +- .../ontotools/curation/domain/Mapping.java | 41 +++- .../curation/domain/MappingSuggestion.java | 26 ++- .../curation/domain/OntologyTerm.java | 2 +- .../ontotools/curation/domain/Provenance.java | 11 +- .../ontotools/curation/domain/Review.java | 20 +- .../curation/domain/auth/Project.java | 15 ++ .../curation/repository/EntityRepository.java | 5 + .../repository/MappingRepository.java | 5 +- .../MappingSuggestionRepository.java | 11 + .../repository/OntologyTermRepository.java | 3 +- .../curation/repository/ReviewRepository.java | 7 - .../rest/assembler/EntityDtoAssembler.java | 28 +++ .../rest/assembler/MappingDtoAssembler.java | 14 +- .../MappingSuggestionDtoAssembler.java | 14 ++ .../rest/assembler/ProjectDtoAssembler.java | 8 +- .../assembler/ProvenanceDtoAssembler.java | 7 +- .../rest/assembler/ReviewDtoAssembler.java | 11 + .../rest/assembler/SourceDtoAssembler.java | 7 +- .../rest/assembler/UserDtoAssembler.java | 5 +- .../rest/controller/EntityController.java | 98 +++++++++ .../rest/controller/MappingsController.java | 56 ++++++ .../rest/controller/ProjectsController.java | 16 +- .../rest/controller/SourcesController.java | 18 +- .../curation/rest/dto/EntityDto.java | 84 ++++++++ .../curation/rest/dto/MappingDto.java | 37 ++++ .../rest/dto/MappingSuggestionDto.java | 58 ++++++ .../curation/rest/dto/ProjectCreationDto.java | 11 +- .../curation/rest/dto/ProjectDto.java | 9 + .../curation/rest/dto/ReviewDto.java | 39 ++++ .../curation/service/ConfigRegistry.java | 10 + .../curation/service/EntityService.java | 16 ++ .../curation/service/MappingService.java | 12 +- .../service/MappingSuggestionsService.java | 7 +- .../curation/service/MatchmakerService.java | 8 + .../curation/service/OntologyTermService.java | 5 +- .../curation/service/UserService.java | 2 + .../service/impl/EntityServiceImpl.java | 51 +++++ .../service/impl/MappingServiceImpl.java | 148 +++----------- .../impl/MappingSuggestionsServiceImpl.java | 56 +++++- .../service/impl/MatchmakerServiceImpl.java | 188 ++++++++++++++++++ .../curation/service/impl/OLSServiceImpl.java | 22 ++ .../curation/service/impl/OXOServiceImpl.java | 14 +- .../service/impl/OntologyTermServiceImpl.java | 94 ++++++++- .../service/impl/UserServiceImpl.java | 17 ++ .../service/impl/ZoomaServiceImpl.java | 11 + .../system/SystemConfigProperties.java | 7 + src/main/resources/application.yml | 2 + .../curation/EntityControllerTest.java | 4 + .../ontotools/curation/IntegrationTest.java | 5 +- .../ontotools/curation/OXOServiceTest.java | 8 +- .../curation/ProjectsControllerTest.java | 2 + 58 files changed, 1167 insertions(+), 244 deletions(-) create mode 100644 install.txt create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/EntityStatus.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/ReviewStatus.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/TermStatus.java delete mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ReviewRepository.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingSuggestionDtoAssembler.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ReviewDtoAssembler.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/MappingSuggestionDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ReviewDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakerService.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java diff --git a/install.txt b/install.txt new file mode 100644 index 0000000..c2b14b1 --- /dev/null +++ b/install.txt @@ -0,0 +1,6 @@ +Data to be created during the initial setup. + +External service configs +------------------------ +db.externalServiceConfigs.insert({"name": "OXO", "aliases" : ["ordo::Orphanet"]}) +db.externalServiceConfigs.insert({"name": "OLS", "aliases" : ["Orphanet::ordo"]}) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java index 93f6af5..6169793 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java @@ -10,7 +10,9 @@ public class CurationConstants { public static final String API_MAPPINGS = "/mappings"; - public static final String API_SUGGESTIONS = "/mapping-suggestions"; + public static final String API_ENTITIES = "/entities"; public static final String ZOOMA_CONFIDENCE_HIGH = "HIGH"; + + public static final int NO_REVIEWS_REQUIRED = 3; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/EntityStatus.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/EntityStatus.java new file mode 100644 index 0000000..7d6b177 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/EntityStatus.java @@ -0,0 +1,9 @@ +package uk.ac.ebi.spot.ontotools.curation.constants; + +public enum EntityStatus { + + UNMAPPED, + SUGGESTIONS_PROVIDED, + MANUALLY_MAPPED, + AUTO_MAPPED +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/MappingStatus.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/MappingStatus.java index eb873fd..cb8a581 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/MappingStatus.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/MappingStatus.java @@ -2,14 +2,8 @@ public enum MappingStatus { - CURRENT, - UNMAPPED, - OBSOLETE, - DELETED, - NEEDS_IMPORT, - AWAITING_IMPORT, - NEEDS_CREATION, - AWAITING_CREATION, - AWAITING_REVIEW + AWAITING_REVIEW, + REVIEW_IN_PROGRESS, + FINALIZED } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/ReviewStatus.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/ReviewStatus.java new file mode 100644 index 0000000..ced48ba --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/ReviewStatus.java @@ -0,0 +1,9 @@ +package uk.ac.ebi.spot.ontotools.curation.constants; + +public enum ReviewStatus { + + AWAITING_REVIEW, + APPROVED, + REJECTED + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/TermStatus.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/TermStatus.java new file mode 100644 index 0000000..e2a084f --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/TermStatus.java @@ -0,0 +1,12 @@ +package uk.ac.ebi.spot.ontotools.curation.constants; + +public enum TermStatus { + + CURRENT, + OBSOLETE, + DELETED, + NEEDS_IMPORT, + AWAITING_IMPORT, + NEEDS_CREATION + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Entity.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Entity.java index c97ac68..e1cc2da 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Entity.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Entity.java @@ -7,7 +7,7 @@ import org.springframework.data.annotation.Id; import org.springframework.data.mongodb.core.index.Indexed; import org.springframework.data.mongodb.core.mapping.Document; -import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; +import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; @Document(collection = "mappings") @Getter @@ -26,5 +26,5 @@ public class Entity { private Provenance created; - private MappingStatus mappingStatus; + private EntityStatus mappingStatus; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Mapping.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Mapping.java index f631e70..b7b17c5 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Mapping.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Mapping.java @@ -1,33 +1,56 @@ package uk.ac.ebi.spot.ontotools.curation.domain; +import lombok.AllArgsConstructor; import lombok.Getter; +import lombok.NoArgsConstructor; import lombok.Setter; import org.springframework.data.annotation.Id; +import org.springframework.data.annotation.Transient; +import org.springframework.data.mongodb.core.index.CompoundIndex; +import org.springframework.data.mongodb.core.index.CompoundIndexes; import org.springframework.data.mongodb.core.index.Indexed; import org.springframework.data.mongodb.core.mapping.Document; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; + +import java.util.ArrayList; +import java.util.List; @Document(collection = "mappings") @Getter @Setter +@AllArgsConstructor +@NoArgsConstructor +@CompoundIndexes({@CompoundIndex(name = "eoId", def = "{'entityId': 1, 'ontologyTermId': 1}")}) public class Mapping { @Id private String id; @Indexed - private String mappedTraitId; + private String entityId; - private String mappedTermId; + @Indexed + private String ontologyTermId; - private Provenance created; + @Indexed + private boolean reviewed; - public Mapping() { + private List reviews; - } + private String status; + + private Provenance created; - public Mapping(String mappedTraitId, String mappedTermId, Provenance created) { - this.mappedTraitId = mappedTraitId; - this.mappedTermId = mappedTermId; - this.created = created; + @Transient + private OntologyTerm ontologyTerm; + + public void addReview(Review review) { + if (reviews == null) { + reviews = new ArrayList<>(); + } + this.reviews.add(review); + if (this.reviews.size() >= CurationConstants.NO_REVIEWS_REQUIRED) { + this.reviewed = true; + } } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MappingSuggestion.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MappingSuggestion.java index 1915fdd..bda11a5 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MappingSuggestion.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MappingSuggestion.java @@ -1,31 +1,35 @@ package uk.ac.ebi.spot.ontotools.curation.domain; +import lombok.AllArgsConstructor; import lombok.Getter; +import lombok.NoArgsConstructor; import lombok.Setter; import org.springframework.data.annotation.Id; +import org.springframework.data.annotation.Transient; +import org.springframework.data.mongodb.core.index.CompoundIndex; +import org.springframework.data.mongodb.core.index.CompoundIndexes; +import org.springframework.data.mongodb.core.index.Indexed; import org.springframework.data.mongodb.core.mapping.Document; @Document(collection = "mappingSuggestions") @Getter @Setter +@NoArgsConstructor +@AllArgsConstructor +@CompoundIndexes({@CompoundIndex(name = "eoId", def = "{'entityId': 1, 'ontologyTermId': 1}")}) public class MappingSuggestion { @Id private String id; - private String mappedTraitId; + @Indexed + private String entityId; - private String mappedTermId; + @Indexed + private String ontologyTermId; private Provenance created; - public MappingSuggestion() { - - } - - public MappingSuggestion(String mappedTraitId, String mappedTermId, Provenance created) { - this.mappedTraitId = mappedTraitId; - this.mappedTermId = mappedTermId; - this.created = created; - } + @Transient + private OntologyTerm ontologyTerm; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/OntologyTerm.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/OntologyTerm.java index 708ec46..d5055cb 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/OntologyTerm.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/OntologyTerm.java @@ -22,7 +22,7 @@ public class OntologyTerm { private String iri; - @Indexed + @Indexed(unique = true) private String iriHash; private String label; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Provenance.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Provenance.java index 8e77a99..3e0ad07 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Provenance.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Provenance.java @@ -1,17 +1,16 @@ package uk.ac.ebi.spot.ontotools.curation.domain; +import lombok.AllArgsConstructor; import lombok.Getter; import org.joda.time.DateTime; @Getter +@AllArgsConstructor public class Provenance { - private String userId; + private String userName; - private DateTime timestamp; + private String userEmail; - public Provenance(String userId, DateTime timestamp) { - this.userId = userId; - this.timestamp = timestamp; - } + private DateTime timestamp; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Review.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Review.java index c873539..53c42f3 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Review.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Review.java @@ -1,28 +1,14 @@ package uk.ac.ebi.spot.ontotools.curation.domain; +import lombok.AllArgsConstructor; import lombok.Getter; -import lombok.Setter; -import org.springframework.data.annotation.Id; -import org.springframework.data.mongodb.core.mapping.Document; -@Document(collection = "reviews") @Getter -@Setter +@AllArgsConstructor public class Review { - @Id - private String id; - - private String reviewId; + private String comment; private Provenance created; - public Review() { - - } - - public Review(String reviewId, Provenance created) { - this.reviewId = reviewId; - this.created = created; - } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Project.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Project.java index bd06bf5..316eb34 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Project.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Project.java @@ -24,9 +24,24 @@ public class Project { private String description; + /** + * List of datasources used to query Zooma to retrieve suggestions. + * Zooma service uses this list to filter results pertaining only to these datasources. + */ private List datasources; + /** + * List of datasources used to query Zooma to retrieve suggestions. + * Zooma service uses this list to filter results pertaining only to these ontologies. + * + * NB: Orphanet prefix used by Zooma is `ordo` + */ private List ontologies; + /** + * Ontology ID used when creating ontology terms locally to query OLS for a mapping + */ + private String preferredMappintOntology; + private Provenance created; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java index de6c20c..f4b0891 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java @@ -1,11 +1,16 @@ package uk.ac.ebi.spot.ontotools.curation.repository; +import org.springframework.data.domain.Page; +import org.springframework.data.domain.Pageable; import org.springframework.data.mongodb.repository.MongoRepository; import uk.ac.ebi.spot.ontotools.curation.domain.Entity; +import java.util.List; import java.util.stream.Stream; public interface EntityRepository extends MongoRepository { Stream readBySourceId(String sourceId); + + Page findBySourceIdIn(List sourceIds, Pageable page); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java index 8a05bf0..ad71f78 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java @@ -4,7 +4,10 @@ import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; import java.util.List; +import java.util.Optional; public interface MappingRepository extends MongoRepository { - List findByMappedTraitIdIn(List traitIds); + Optional findByEntityIdAndOntologyTermId(String entityId, String ontologyTermId); + + List findByEntityIdIn(List entityIds); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingSuggestionRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingSuggestionRepository.java index 62736ed..2db7c54 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingSuggestionRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingSuggestionRepository.java @@ -3,5 +3,16 @@ import org.springframework.data.mongodb.repository.MongoRepository; import uk.ac.ebi.spot.ontotools.curation.domain.MappingSuggestion; +import java.util.List; +import java.util.Optional; + public interface MappingSuggestionRepository extends MongoRepository { + + Optional findByEntityIdAndOntologyTermId(String entityId, String ontologyTermId); + + List findByEntityIdIn(List entityIds); + + List findByEntityIdAndOntologyTermIdNotIn(String entityId, List ontologyTermIds); + + List findByOntologyTermId(String ontologyTermId); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java index e1a2a1d..b2adb78 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java @@ -4,9 +4,10 @@ import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; import java.util.List; +import java.util.Optional; public interface OntologyTermRepository extends MongoRepository { List findByIdIn(List ontoTermIds); - List findByIriHash(String iriHash); + Optional findByIriHash(String iriHash); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ReviewRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ReviewRepository.java deleted file mode 100644 index 17b231a..0000000 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ReviewRepository.java +++ /dev/null @@ -1,7 +0,0 @@ -package uk.ac.ebi.spot.ontotools.curation.repository; - -import org.springframework.data.mongodb.repository.MongoRepository; -import uk.ac.ebi.spot.ontotools.curation.domain.Review; - -public interface ReviewRepository extends MongoRepository { -} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java new file mode 100644 index 0000000..1228d98 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java @@ -0,0 +1,28 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.assembler; + +import uk.ac.ebi.spot.ontotools.curation.domain.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; +import uk.ac.ebi.spot.ontotools.curation.domain.MappingSuggestion; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.EntityDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.MappingDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.MappingSuggestionDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; + +import java.util.List; +import java.util.stream.Collectors; + +public class EntityDtoAssembler { + + public static EntityDto assemble(Entity entity, SourceDto source, List mappings, List mappingSuggestions) { + List mappingSuggestionDtos = mappingSuggestions.stream().map(MappingSuggestionDtoAssembler::assemble).collect(Collectors.toList()); + List mappingDtos = mappings.stream().map(MappingDtoAssembler::assemble).collect(Collectors.toList()); + + return new EntityDto(entity.getId(), + source, + entity.getName(), + entity.getMappingStatus().name(), + mappingSuggestionDtos, + mappingDtos, + ProvenanceDtoAssembler.assemble(entity.getCreated())); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java index d5c25d6..11070db 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java @@ -1,9 +1,21 @@ package uk.ac.ebi.spot.ontotools.curation.rest.assembler; import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; -import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.rest.dto.MappingDto; +import java.util.ArrayList; +import java.util.stream.Collectors; + public class MappingDtoAssembler { + public static MappingDto assemble(Mapping mapping) { + return new MappingDto(mapping.getId(), + mapping.getEntityId(), + OntologyTermDtoAssembler.assemble(mapping.getOntologyTerm()), + mapping.isReviewed(), + mapping.getStatus(), + mapping.getReviews() != null ? mapping.getReviews().stream().map(ReviewDtoAssembler::assemble).collect(Collectors.toList()) : new ArrayList<>(), + ProvenanceDtoAssembler.assemble(mapping.getCreated())); + } + } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingSuggestionDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingSuggestionDtoAssembler.java new file mode 100644 index 0000000..426bd0e --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingSuggestionDtoAssembler.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.assembler; + +import uk.ac.ebi.spot.ontotools.curation.domain.MappingSuggestion; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.MappingSuggestionDto; + +public class MappingSuggestionDtoAssembler { + + public static MappingSuggestionDto assemble(MappingSuggestion mappingSuggestion) { + return new MappingSuggestionDto(mappingSuggestion.getId(), + mappingSuggestion.getEntityId(), + OntologyTermDtoAssembler.assemble(mappingSuggestion.getOntologyTerm()), + ProvenanceDtoAssembler.assemble(mappingSuggestion.getCreated())); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java index 9f7510f..b33e238 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java @@ -2,7 +2,6 @@ import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; -import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectCreationDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; @@ -10,13 +9,14 @@ public class ProjectDtoAssembler { - public static ProjectDto assemble(Project project, User user) { + public static ProjectDto assemble(Project project) { return new ProjectDto(project.getId(), project.getName(), project.getDescription(), project.getDatasources(), project.getOntologies(), - ProvenanceDtoAssembler.assemble(project.getCreated(), user)); + project.getPreferredMappintOntology(), + ProvenanceDtoAssembler.assemble(project.getCreated())); } public static Project disassemble(ProjectDto project) { @@ -25,6 +25,7 @@ public static Project disassemble(ProjectDto project) { project.getDescription(), project.getDatasources(), project.getOntologies(), + project.getPreferredMappingOntology(), ProvenanceDtoAssembler.disassemble(project.getCreated())); } @@ -34,6 +35,7 @@ public static Project disassemble(ProjectCreationDto project, Provenance provena project.getDescription(), project.getDatasources() != null ? project.getDatasources() : new ArrayList<>(), project.getOntologies() != null ? project.getOntologies() : new ArrayList<>(), + project.getPreferredMappingOntology(), provenance); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProvenanceDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProvenanceDtoAssembler.java index 8da00db..bcd26bd 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProvenanceDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProvenanceDtoAssembler.java @@ -1,16 +1,15 @@ package uk.ac.ebi.spot.ontotools.curation.rest.assembler; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; -import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProvenanceDto; public class ProvenanceDtoAssembler { - public static ProvenanceDto assemble(Provenance provenance, User user) { - return new ProvenanceDto(UserDtoAssembler.asseble(user), provenance.getTimestamp()); + public static ProvenanceDto assemble(Provenance provenance) { + return new ProvenanceDto(UserDtoAssembler.assemble(provenance.getUserName(), provenance.getUserEmail()), provenance.getTimestamp()); } public static Provenance disassemble(ProvenanceDto provenance) { - return new Provenance(provenance.getUser().getId(), provenance.getTimestamp()); + return new Provenance(provenance.getUser().getName(), provenance.getUser().getEmail(), provenance.getTimestamp()); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ReviewDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ReviewDtoAssembler.java new file mode 100644 index 0000000..765ebcc --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ReviewDtoAssembler.java @@ -0,0 +1,11 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.assembler; + +import uk.ac.ebi.spot.ontotools.curation.domain.Review; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ReviewDto; + +public class ReviewDtoAssembler { + + public static ReviewDto assemble(Review review) { + return new ReviewDto(review.getComment(), ProvenanceDtoAssembler.assemble(review.getCreated())); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/SourceDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/SourceDtoAssembler.java index b53c146..f318029 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/SourceDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/SourceDtoAssembler.java @@ -2,20 +2,19 @@ import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.Source; -import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceCreationDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; public class SourceDtoAssembler { - public static SourceDto assemble(Source source, User user) { + public static SourceDto assemble(Source source) { return new SourceDto(source.getId(), source.getName(), source.getDescription(), source.getUri(), source.getType(), - ProvenanceDtoAssembler.assemble(source.getCreated(), user), - ProvenanceDtoAssembler.assemble(source.getLastUpdated(), user)); + ProvenanceDtoAssembler.assemble(source.getCreated()), + ProvenanceDtoAssembler.assemble(source.getLastUpdated())); } public static Source disassemble(SourceDto source) { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/UserDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/UserDtoAssembler.java index 2c82950..95196c2 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/UserDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/UserDtoAssembler.java @@ -7,11 +7,14 @@ public class UserDtoAssembler { - public static UserDto asseble(User user) { + public static UserDto assemble(User user) { return new UserDto(user.getId(), user.getName(), user.getEmail(), user.getRoles() != null ? user.getRoles().stream().map(RoleDtoAssembler::assemble).collect(Collectors.toList()) : null); } + public static UserDto assemble(String name, String email) { + return new UserDto(null, name, email, null); + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java new file mode 100644 index 0000000..9fcb0fe --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java @@ -0,0 +1,98 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.controller; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.data.domain.Page; +import org.springframework.data.domain.PageImpl; +import org.springframework.data.domain.Pageable; +import org.springframework.data.web.PageableDefault; +import org.springframework.http.HttpStatus; +import org.springframework.http.MediaType; +import org.springframework.web.bind.annotation.*; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.domain.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; +import uk.ac.ebi.spot.ontotools.curation.domain.MappingSuggestion; +import uk.ac.ebi.spot.ontotools.curation.domain.Source; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.rest.assembler.EntityDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.assembler.SourceDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.EntityDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; +import uk.ac.ebi.spot.ontotools.curation.service.*; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; +import uk.ac.ebi.spot.ontotools.curation.util.HeadersUtil; + +import javax.servlet.http.HttpServletRequest; +import java.util.*; +import java.util.stream.Collectors; + +@RestController +@RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) +public class EntityController { + + private static final Logger log = LoggerFactory.getLogger(ProjectsController.class); + + @Autowired + private JWTService jwtService; + + @Autowired + private ProjectService projectService; + + @Autowired + private SourceService sourceService; + + @Autowired + private EntityService entityService; + + @Autowired + private MappingSuggestionsService mappingSuggestionsService; + + @Autowired + private MappingService mappingService; + + /** + * GET /v1/projects/{projectId}/entities + */ + @GetMapping(value = "/{projectId}" + CurationConstants.API_ENTITIES, + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.OK) + public Page getEntities(@PathVariable String projectId, @PageableDefault(size = 20, page = 0) Pageable pageable, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to retrieve entities: {}", user.getEmail(), projectId); + projectService.verifyAccess(projectId, user); + List sources = sourceService.getSources(projectId); + Map sourceMap = new HashMap<>(); + for (Source source : sources) { + sourceMap.put(source.getId(), SourceDtoAssembler.assemble(source)); + } + + Page entities = entityService.retrieveEntitiesForSources(sources, pageable); + List entityIds = entities.get().map(Entity::getId).collect(Collectors.toList()); + Map> mappings = mappingService.retrieveMappingsForEntities(entityIds); + Map> mappingSuggestions = mappingSuggestionsService.retrieveMappingSuggestionsForEntities(entityIds); + List entityDtos = new ArrayList<>(); + for (Entity entity : entities.getContent()) { + entityDtos.add(EntityDtoAssembler.assemble(entity, sourceMap.get(entity.getSourceId()), mappings.get(entity.getId()), mappingSuggestions.get(entity.getId()))); + } + return new PageImpl<>(entityDtos, pageable, entities.getTotalElements()); + } + + /** + * GET /v1/projects/{projectId}/entities/{entityId} + */ + @GetMapping(value = "/{projectId}" + CurationConstants.API_ENTITIES + "/{entityId}", + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.OK) + public EntityDto getEntity(@PathVariable String projectId, @PathVariable String entityId, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to retrieve entity: {} | {}", user.getEmail(), projectId, entityId); + projectService.verifyAccess(projectId, user); + Entity entity = entityService.retrieveEntity(entityId); + Source source = sourceService.getSource(entity.getSourceId(), projectId); + Map> mappings = mappingService.retrieveMappingsForEntities(Arrays.asList(new String[]{entityId})); + Map> mappingSuggestions = mappingSuggestionsService.retrieveMappingSuggestionsForEntities(Arrays.asList(new String[]{entityId})); + return EntityDtoAssembler.assemble(entity, SourceDtoAssembler.assemble(source), mappings.get(entityId), mappingSuggestions.get(entityId)); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java new file mode 100644 index 0000000..49325d4 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java @@ -0,0 +1,56 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.controller; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.web.bind.annotation.RequestMapping; +import org.springframework.web.bind.annotation.RestController; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.service.*; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; + +@RestController +@RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_MAPPINGS) +public class MappingsController { + + private static final Logger log = LoggerFactory.getLogger(ProjectsController.class); + + @Autowired + private JWTService jwtService; + + @Autowired + private ProjectService projectService; + + @Autowired + private MappingService mappingService; + + @Autowired + private MappingSuggestionsService mappingSuggestionsService; + + @Autowired + private UserService userService; + + + /** + * GET /v1/mappings?entityId= + */ + + /** + * POST /v1/mappings + */ + + /** + * PUT /v1/mappings/{mappingId} + * - sets mapping active + */ + + /** + * DELETE /v1/mappings/{mappingId} + */ + + /** + * TODO: + * - Add comments + * - Add review + */ +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java index b678e16..4dee1c5 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java @@ -23,8 +23,8 @@ import javax.servlet.http.HttpServletRequest; import javax.validation.Valid; -import java.util.ArrayList; import java.util.List; +import java.util.stream.Collectors; @RestController @RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) @@ -50,9 +50,9 @@ public class ProjectsController { public ProjectDto createProject(@RequestBody @Valid ProjectCreationDto projectCreationDto, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to create project: {}", user.getEmail(), projectCreationDto.getName()); - Project created = projectService.createProject(ProjectDtoAssembler.disassemble(projectCreationDto, new Provenance(user.getId(), DateTime.now())), user); + Project created = projectService.createProject(ProjectDtoAssembler.disassemble(projectCreationDto, new Provenance(user.getName(), user.getEmail(), DateTime.now())), user); userService.addProjectToUser(user, created, ProjectRole.ADMIN); - return ProjectDtoAssembler.assemble(created, user); + return ProjectDtoAssembler.assemble(created); } /** @@ -66,11 +66,7 @@ public List getProjects(HttpServletRequest request) { List projects = projectService.retrieveProjects(user); log.info("Found {} projects for user: {}", projects.size(), user.getEmail()); - List result = new ArrayList<>(); - for (Project project : projects) { - result.add(ProjectDtoAssembler.assemble(project, user)); - } - return result; + return projects.stream().map(ProjectDtoAssembler::assemble).collect(Collectors.toList()); } /** @@ -83,7 +79,7 @@ public ProjectDto getProject(@PathVariable String projectId, HttpServletRequest User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to retrieve project: {}", user.getEmail(), projectId); Project project = projectService.retrieveProject(projectId, user); - return ProjectDtoAssembler.assemble(project, user); + return ProjectDtoAssembler.assemble(project); } /** @@ -97,7 +93,7 @@ public ProjectDto updateProject(@RequestBody @Valid ProjectDto projectDto, @Path User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to update project [{}]: {}", user.getEmail(), projectId, projectDto.getName()); Project updated = projectService.updateProject(ProjectDtoAssembler.disassemble(projectDto), projectId, user); - return ProjectDtoAssembler.assemble(updated, user); + return ProjectDtoAssembler.assemble(updated); } /** diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java index f271aa0..9471aa2 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java @@ -8,7 +8,7 @@ import org.springframework.http.MediaType; import org.springframework.web.bind.annotation.*; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; -import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; +import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.domain.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.Source; @@ -25,8 +25,8 @@ import javax.servlet.http.HttpServletRequest; import javax.validation.Valid; -import java.util.ArrayList; import java.util.List; +import java.util.stream.Collectors; @RestController @RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) @@ -57,8 +57,8 @@ public SourceDto createSource(@RequestBody @Valid SourceCreationDto sourceCreati User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{} | {}] Request to create source: {}", user.getEmail(), projectId, sourceCreationDto.getName()); projectService.verifyAccess(projectId, user); - Source created = sourceService.createSource(SourceDtoAssembler.disassemble(sourceCreationDto, new Provenance(user.getId(), DateTime.now())), projectId); - return SourceDtoAssembler.assemble(created, user); + Source created = sourceService.createSource(SourceDtoAssembler.disassemble(sourceCreationDto, new Provenance(user.getName(), user.getEmail(), DateTime.now())), projectId); + return SourceDtoAssembler.assemble(created); } /** @@ -73,11 +73,7 @@ public List getSources(@PathVariable String projectId, HttpServletReq projectService.verifyAccess(projectId, user); List sources = sourceService.getSources(projectId); log.info("Found {} sources in project: {}", sources.size(), projectId); - List result = new ArrayList<>(); - for (Source source : sources) { - result.add(SourceDtoAssembler.assemble(source, user)); - } - return result; + return sources.stream().map(SourceDtoAssembler::assemble).collect(Collectors.toList()); } /** @@ -91,7 +87,7 @@ public SourceDto getSource(@PathVariable String projectId, @PathVariable String log.info("[{}] Request to retrieve source: {} | {}", user.getEmail(), projectId, sourceId); projectService.verifyAccess(projectId, user); Source source = sourceService.getSource(sourceId, projectId); - return SourceDtoAssembler.assemble(source, user); + return SourceDtoAssembler.assemble(source); } /** @@ -106,7 +102,7 @@ public void addDataToSource(@RequestBody List entities, @PathVariable St projectService.verifyAccess(projectId, user); Source source = sourceService.getSource(sourceId, projectId); for (String entity : entities) { - entityService.createEntity(new Entity(null, entity, source.getId(), new Provenance(user.getId(), DateTime.now()), MappingStatus.UNMAPPED)); + entityService.createEntity(new Entity(null, entity, source.getId(), new Provenance(user.getName(), user.getEmail(), DateTime.now()), EntityStatus.UNMAPPED)); } } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java new file mode 100644 index 0000000..442735b --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java @@ -0,0 +1,84 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import javax.validation.constraints.NotNull; +import java.io.Serializable; +import java.util.List; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class EntityDto implements Serializable { + + private static final long serialVersionUID = 5798967900389052490L; + + @NotNull + @JsonProperty("id") + private final String id; + + @JsonProperty("source") + private final SourceDto source; + + @JsonProperty("name") + private final String name; + + @JsonProperty("mappingStatus") + private final String mappingStatus; + + @JsonProperty("created") + private final ProvenanceDto created; + + @JsonProperty("mappingSuggestions") + private final List mappingSuggestions; + + @JsonProperty("mappings") + private final List mappings; + + @JsonCreator + public EntityDto(@JsonProperty("id") String id, + @JsonProperty("source") SourceDto source, + @JsonProperty("name") String name, + @JsonProperty("mappingStatus") String mappingStatus, + @JsonProperty("mappingSuggestions") List mappingSuggestions, + @JsonProperty("mappings") List mappings, + @JsonProperty("created") ProvenanceDto created) { + this.id = id; + this.source = source; + this.name = name; + this.mappingStatus = mappingStatus; + this.mappingSuggestions = mappingSuggestions; + this.mappings = mappings; + this.created = created; + } + + public String getId() { + return id; + } + + public SourceDto getSource() { + return source; + } + + public String getName() { + return name; + } + + public String getMappingStatus() { + return mappingStatus; + } + + public ProvenanceDto getCreated() { + return created; + } + + public List getMappingSuggestions() { + return mappingSuggestions; + } + + public List getMappings() { + return mappings; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/MappingDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/MappingDto.java index d3e17eb..f17da9b 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/MappingDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/MappingDto.java @@ -7,6 +7,7 @@ import javax.validation.constraints.NotNull; import java.io.Serializable; +import java.util.List; @EqualsAndHashCode @JsonInclude(JsonInclude.Include.NON_NULL) @@ -18,20 +19,40 @@ public final class MappingDto implements Serializable { @JsonProperty("id") private final String id; + @JsonProperty("entityId") + private final String entityId; + @NotNull @JsonProperty("ontologyTerm") private final OntologyTermDto ontologyTerm; + @JsonProperty("reviewed") + private final boolean reviewed; + + @JsonProperty("status") + private final String status; + + @JsonProperty("reviews") + private final List reviews; + @NotNull @JsonProperty("created") private final ProvenanceDto created; @JsonCreator public MappingDto(@JsonProperty("id") String id, + @JsonProperty("entityId") String entityId, @JsonProperty("ontologyTerm") OntologyTermDto ontologyTerm, + @JsonProperty("reviewed") boolean reviewed, + @JsonProperty("status") String status, + @JsonProperty("reviews") List reviews, @JsonProperty("created") ProvenanceDto created) { this.id = id; + this.entityId = entityId; this.ontologyTerm = ontologyTerm; + this.reviewed = reviewed; + this.status = status; + this.reviews = reviews; this.created = created; } @@ -43,6 +64,22 @@ public OntologyTermDto getOntologyTerm() { return ontologyTerm; } + public String getEntityId() { + return entityId; + } + + public boolean isReviewed() { + return reviewed; + } + + public String getStatus() { + return status; + } + + public List getReviews() { + return reviews; + } + public ProvenanceDto getCreated() { return created; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/MappingSuggestionDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/MappingSuggestionDto.java new file mode 100644 index 0000000..e0179a1 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/MappingSuggestionDto.java @@ -0,0 +1,58 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import javax.validation.constraints.NotNull; +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class MappingSuggestionDto implements Serializable { + + private static final long serialVersionUID = -4565784727352793191L; + + @NotNull + @JsonProperty("id") + private final String id; + + @JsonProperty("entityId") + private final String entityId; + + @NotNull + @JsonProperty("ontologyTerm") + private final OntologyTermDto ontologyTerm; + + @NotNull + @JsonProperty("created") + private final ProvenanceDto created; + + @JsonCreator + public MappingSuggestionDto(@JsonProperty("id") String id, + @JsonProperty("entityId") String entityId, + @JsonProperty("ontologyTerm") OntologyTermDto ontologyTerm, + @JsonProperty("created") ProvenanceDto created) { + this.id = id; + this.entityId = entityId; + this.ontologyTerm = ontologyTerm; + this.created = created; + } + + public String getId() { + return id; + } + + public OntologyTermDto getOntologyTerm() { + return ontologyTerm; + } + + public String getEntityId() { + return entityId; + } + + public ProvenanceDto getCreated() { + return created; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectCreationDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectCreationDto.java index 5a8180c..6b52a9b 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectCreationDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectCreationDto.java @@ -28,15 +28,20 @@ public final class ProjectCreationDto implements Serializable { @JsonProperty("ontologies") private final List ontologies; + @JsonProperty("preferredMappingOntology") + private final String preferredMappingOntology; + @JsonCreator public ProjectCreationDto(@JsonProperty("name") String name, @JsonProperty("description") String description, @JsonProperty("datasources") List datasources, - @JsonProperty("ontologies") List ontologies) { + @JsonProperty("ontologies") List ontologies, + @JsonProperty("preferredMappingOntology") String preferredMappingOntology) { this.name = name; this.description = description; this.datasources = datasources; this.ontologies = ontologies; + this.preferredMappingOntology = preferredMappingOntology; } public String getName() { @@ -51,6 +56,10 @@ public List getDatasources() { return datasources; } + public String getPreferredMappingOntology() { + return preferredMappingOntology; + } + public List getOntologies() { return ontologies; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDto.java index c90f581..ef56021 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDto.java @@ -32,6 +32,9 @@ public final class ProjectDto implements Serializable { @JsonProperty("ontologies") private final List ontologies; + @JsonProperty("preferredMappingOntology") + private final String preferredMappingOntology; + @JsonProperty("created") private final ProvenanceDto created; @@ -41,12 +44,14 @@ public ProjectDto(@JsonProperty("id") String id, @JsonProperty("description") String description, @JsonProperty("datasources") List datasources, @JsonProperty("ontologies") List ontologies, + @JsonProperty("preferredMappingOntology") String preferredMappingOntology, @JsonProperty("created") ProvenanceDto created) { this.id = id; this.name = name; this.description = description; this.datasources = datasources; this.ontologies = ontologies; + this.preferredMappingOntology = preferredMappingOntology; this.created = created; } @@ -70,6 +75,10 @@ public List getOntologies() { return ontologies; } + public String getPreferredMappingOntology() { + return preferredMappingOntology; + } + public ProvenanceDto getCreated() { return created; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ReviewDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ReviewDto.java new file mode 100644 index 0000000..7535d31 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ReviewDto.java @@ -0,0 +1,39 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import javax.validation.constraints.NotNull; +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class ReviewDto implements Serializable { + + private static final long serialVersionUID = -3975761372901822735L; + + @NotNull + @JsonProperty("comment") + private final String comment; + + @NotNull + @JsonProperty("created") + private final ProvenanceDto created; + + @JsonCreator + public ReviewDto(@JsonProperty("comment") String comment, + @JsonProperty("created") ProvenanceDto created) { + this.comment = comment; + this.created = created; + } + + public String getComment() { + return comment; + } + + public ProvenanceDto getCreated() { + return created; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ConfigRegistry.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ConfigRegistry.java index 4842c90..5abbca7 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ConfigRegistry.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ConfigRegistry.java @@ -2,8 +2,18 @@ import uk.ac.ebi.spot.ontotools.curation.domain.ExternalServiceConfig; +/** + * Class in charge with keeping a registry of services awaiting for real-time configuration updates. + */ public interface ConfigRegistry { + + /** + * Accepts registration requests from services and adds them to the registry. + */ void registerListener(ConfigListener configListener); + /** + * Accepts new config values to be changed in real-time and pushes them downstream to the corresponding service. + */ void updateAliases(ExternalServiceConfig externalServiceConfig); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java index 54d57d2..24e9085 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java @@ -1,7 +1,23 @@ package uk.ac.ebi.spot.ontotools.curation.service; +import org.springframework.data.domain.Page; +import org.springframework.data.domain.Pageable; +import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.domain.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.Source; + +import java.util.List; +import java.util.stream.Stream; public interface EntityService { + Entity createEntity(Entity entity); + + Stream retrieveEntitiesForSource(String sourceId); + + Entity updateMappingStatus(Entity entity, EntityStatus mappingStatus); + + Page retrieveEntitiesForSources(List sources, Pageable page); + + Entity retrieveEntity(String entityId); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java index 3e072e6..257effe 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java @@ -1,8 +1,16 @@ package uk.ac.ebi.spot.ontotools.curation.service; -import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; +import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; + +import java.util.List; +import java.util.Map; public interface MappingService { - void runAutoMapping(String sourceId, Project project); + Mapping createMapping(Entity entity, OntologyTerm ontologyTerm, Provenance provenance); + + Map> retrieveMappingsForEntities(List entityIds); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingSuggestionsService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingSuggestionsService.java index 4c07a86..16ab4f8 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingSuggestionsService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingSuggestionsService.java @@ -1,13 +1,18 @@ package uk.ac.ebi.spot.ontotools.curation.service; import uk.ac.ebi.spot.ontotools.curation.domain.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.MappingSuggestion; import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import java.util.List; +import java.util.Map; public interface MappingSuggestionsService { - void createMappingSuggestion(Entity entity, OntologyTerm ontologyTerm); + MappingSuggestion createMappingSuggestion(Entity entity, OntologyTerm ontologyTerm, Provenance provenance); void deleteMappingSuggestionsExcluding(Entity entity, List ontologyTerms); + + Map> retrieveMappingSuggestionsForEntities(List entityIds); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakerService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakerService.java new file mode 100644 index 0000000..5638321 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakerService.java @@ -0,0 +1,8 @@ +package uk.ac.ebi.spot.ontotools.curation.service; + +import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; + +public interface MatchmakerService { + + void runMatchmaking(String sourceId, Project project); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java index f8042e8..89fb5b2 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java @@ -1,12 +1,13 @@ package uk.ac.ebi.spot.ontotools.curation.service; import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; import java.util.List; import java.util.Map; public interface OntologyTermService { - Map getOntologyTermsById(List ontoTermIds); + OntologyTerm createTerm(String iri, Project project); - OntologyTerm createTerm(String iri); + Map retrieveTerms(List ontologyTermIds); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/UserService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/UserService.java index 5a8bb7b..00d2ccd 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/UserService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/UserService.java @@ -9,6 +9,8 @@ public interface UserService { User findRandomSuperUser(); + User retrieveRobotUser(); + void addProjectToUser(User user, Project project, ProjectRole role); void removeProjectFromUser(User user, String projectId); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java index 58c5120..0bf44e7 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java @@ -3,11 +3,21 @@ import org.slf4j.Logger; import org.slf4j.LoggerFactory; import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.data.domain.Page; +import org.springframework.data.domain.Pageable; import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.domain.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.Source; +import uk.ac.ebi.spot.ontotools.curation.exception.EntityNotFoundException; import uk.ac.ebi.spot.ontotools.curation.repository.EntityRepository; import uk.ac.ebi.spot.ontotools.curation.service.EntityService; +import java.util.List; +import java.util.Optional; +import java.util.stream.Collectors; +import java.util.stream.Stream; + @Service public class EntityServiceImpl implements EntityService { @@ -23,4 +33,45 @@ public Entity createEntity(Entity entity) { log.info("[{}] Entity created: {}", created.getSourceId(), created.getId()); return created; } + + @Override + public Stream retrieveEntitiesForSource(String sourceId) { + return entityRepository.readBySourceId(sourceId); + } + + @Override + public Entity updateMappingStatus(Entity entity, EntityStatus mappingStatus) { + log.info("Updating mappping status [{}]: {}", entity.getName(), mappingStatus); + Optional entityOptional = entityRepository.findById(entity.getId()); + if (!entityOptional.isPresent()) { + log.error("Unable to find entity: {}", entity.getName()); + return null; + } + + Entity existing = entityOptional.get(); + existing.setMappingStatus(mappingStatus); + existing = entityRepository.save(existing); + return existing; + } + + @Override + public Page retrieveEntitiesForSources(List sources, Pageable page) { + log.info("Retrieving entities for {} sources: {} | {}", sources.size(), page.getPageNumber(), page.getPageSize()); + List sourceIds = sources.stream().map(Source::getId).collect(Collectors.toList()); + Page entityPage = entityRepository.findBySourceIdIn(sourceIds, page); + log.info("Found {} entities.", entityPage.getContent().size()); + return entityPage; + } + + @Override + public Entity retrieveEntity(String entityId) { + log.info("Retrieving entity: {}", entityId); + Optional entityOptional = entityRepository.findById(entityId); + if (!entityOptional.isPresent()) { + log.error("Unable to find entity: {}", entityId); + throw new EntityNotFoundException("Unable to find entity: " + entityId); + } + return entityOptional.get(); + } + } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java index 5e19db6..62e69d0 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java @@ -3,23 +3,18 @@ import org.slf4j.Logger; import org.slf4j.LoggerFactory; import org.springframework.beans.factory.annotation.Autowired; -import org.springframework.scheduling.annotation.Async; import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; import uk.ac.ebi.spot.ontotools.curation.domain.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; -import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; -import uk.ac.ebi.spot.ontotools.curation.repository.EntityRepository; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.repository.MappingRepository; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSTermDto; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.oxo.OXOMappingResponseDto; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.zooma.ZoomaResponseDto; -import uk.ac.ebi.spot.ontotools.curation.service.*; -import uk.ac.ebi.spot.ontotools.curation.util.CurationUtil; +import uk.ac.ebi.spot.ontotools.curation.service.MappingService; +import uk.ac.ebi.spot.ontotools.curation.service.OntologyTermService; import java.util.*; -import java.util.stream.Stream; - -import static uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants.ZOOMA_CONFIDENCE_HIGH; +import java.util.stream.Collectors; @Service public class MappingServiceImpl implements MappingService { @@ -29,122 +24,41 @@ public class MappingServiceImpl implements MappingService { @Autowired private MappingRepository mappingRepository; - @Autowired - private MappingSuggestionsService mappingSuggestionsService; - - @Autowired - private EntityRepository entityRepository; - - @Autowired - private ZoomaService zoomaService; - @Autowired private OntologyTermService ontologyTermService; - @Autowired - private OLSService olsService; - - @Autowired - private OXOService oxoService; - @Override - @Async - public void runAutoMapping(String sourceId, Project project) { - log.info("Running auto-mapping for source: {}", sourceId); - Stream entityStream = entityRepository.readBySourceId(sourceId); - entityStream.forEach(entity -> this.autoMap(entity, project)); - entityStream.close(); - } - - private void autoMap(Entity entity, Project project) { - /** - * Retrieve annotations from Zooma from datasources stored in the project - */ - List zoomaResults = zoomaService.annotate(entity.getName(), project.getDatasources(), null); - - /** - * Retrieve annotations from Zooma from ontologies stored in the project - */ - zoomaResults.addAll(zoomaService.annotate(entity.getName(), null, project.getOntologies())); - - List highConfidenceIRIs = new ArrayList<>(); - Set finalIRIs = new HashSet<>(); - for (ZoomaResponseDto zoomaResponseDto : zoomaResults) { - if (zoomaResponseDto.getSemanticTags().size() > 1) { - log.warn("Found suggestion with combined terms: {} | {}", entity, zoomaResponseDto.getSemanticTags()); - continue; - } - - String suggestedTermIRI = zoomaResponseDto.getSemanticTags().get(0); - if (zoomaResponseDto.getConfidence().equalsIgnoreCase(ZOOMA_CONFIDENCE_HIGH)) { - highConfidenceIRIs.add(suggestedTermIRI); - } - if (project.getOntologies() != null && project.getOntologies().contains(CurationUtil.ontoFromIRI(suggestedTermIRI))) { - finalIRIs.add(suggestedTermIRI); - } + public Mapping createMapping(Entity entity, OntologyTerm ontologyTerm, Provenance provenance) { + log.info("Creating mapping for entity [{}]: {}", entity.getName(), ontologyTerm.getCurie()); + Optional mappingOp = mappingRepository.findByEntityIdAndOntologyTermId(entity.getId(), ontologyTerm.getId()); + if (mappingOp.isPresent()) { + log.warn("Mapping for between entity [{}] and ontology term [{}] already exists: {}", entity.getName(), ontologyTerm.getCurie(), mappingOp.get().getId()); + return mappingOp.get(); } - List termsCreated = new ArrayList<>(); - for (String iri : finalIRIs) { - OntologyTerm ontologyTerm = ontologyTermService.createTerm(iri); - termsCreated.add(ontologyTerm); - mappingSuggestionsService.createMappingSuggestion(entity, ontologyTerm); - } - - termsCreated.addAll(findExactMapping(entity, termsCreated, highConfidenceIRIs, project)); - mappingSuggestionsService.deleteMappingSuggestionsExcluding(entity, termsCreated); + Mapping created = mappingRepository.insert(new Mapping(null, entity.getId(), ontologyTerm.getId(), false, new ArrayList<>(), MappingStatus.AWAITING_REVIEW.name(), provenance, null)); + log.info("Mapping for between entity [{}] and ontology term [{}] created: {}", entity.getName(), ontologyTerm.getCurie(), created.getId()); + return created; } - private List findExactMapping(Entity entity, List termsCreated, List highConfidenceIRIs, Project project) { - List ontoSuggestions = new ArrayList<>(); - - for (OntologyTerm ontologyTerm : termsCreated) { - if (highConfidenceIRIs.contains(ontologyTerm.getIri())) { - this.createMapping(entity, ontologyTerm); - log.info("Found high confidence mapping for [{}] in: {}", entity.getName(), ontologyTerm.getIri()); - return ontoSuggestions; - } - } - - for (OntologyTerm ontologyTerm : termsCreated) { - if (entity.getName().equalsIgnoreCase(ontologyTerm.getLabel())) { - this.createMapping(entity, ontologyTerm); - log.info("Found exact text matching for [{}] in: {}", entity.getName(), ontologyTerm.getIri()); - return ontoSuggestions; - } - } - - for (String iri : highConfidenceIRIs) { - String ontoId = CurationUtil.ontoFromIRI(iri); - List olsTerms = olsService.retrieveTerms(ontoId, iri); - if (olsTerms.size() > 1) { - log.warn("Found {} OLS results. Using only the first one to map to: {}", olsTerms.size(), entity.getName()); - } - if (olsTerms.isEmpty()) { - log.warn("Found no OLS results. Cannot continue mapping for: {}", entity.getName()); + @Override + public Map> retrieveMappingsForEntities(List entityIds) { + log.info("Retrieving mappings for entities: {}", entityIds); + List mappings = mappingRepository.findByEntityIdIn(entityIds); + List ontologyTermIds = mappings.stream().map(Mapping::getOntologyTermId).collect(Collectors.toList()); + Map ontologyTermMap = ontologyTermService.retrieveTerms(ontologyTermIds); + log.info("Found {} mappings.", mappings.size()); + Map> result = new HashMap<>(); + for (Mapping mapping : mappings) { + if (!ontologyTermMap.containsKey(mapping.getOntologyTermId())) { + log.warn("Unable to find ontology term [{}] for mapping suggestion: {}", mapping.getOntologyTermId(), mapping.getId()); continue; } - - List oxoMappings = oxoService.findMapping(Arrays.asList(new String[]{olsTerms.get(0).getCurie()}), project.getOntologies()); - for (OXOMappingResponseDto oxoMappingResponseDto : oxoMappings) { - String targetOntoId = oxoMappingResponseDto.getTargetPrefix().toLowerCase(); - olsTerms = olsService.retrieveTerms(targetOntoId, oxoMappingResponseDto.getCurie()); - if (olsTerms.isEmpty()) { - continue; - } - String resultIri = olsTerms.get(0).getIri(); - OntologyTerm ontologyTerm = ontologyTermService.createTerm(resultIri); - ontoSuggestions.add(ontologyTerm); - mappingSuggestionsService.createMappingSuggestion(entity, ontologyTerm); - } + List list = result.containsKey(mapping.getEntityId()) ? result.get(mapping.getEntityId()) : new ArrayList<>(); + mapping.setOntologyTerm(ontologyTermMap.get(mapping.getOntologyTermId())); + list.add(mapping); + result.put(mapping.getEntityId(), list); } - - return ontoSuggestions; - } - - /** - * TODO: Implement - */ - private void createMapping(Entity entity, OntologyTerm ontologyTerm) { + return result; } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java index 1df3c79..3378b00 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java @@ -2,33 +2,73 @@ import org.slf4j.Logger; import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; import org.springframework.scheduling.annotation.Async; import org.springframework.stereotype.Service; import uk.ac.ebi.spot.ontotools.curation.domain.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.MappingSuggestion; import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; +import uk.ac.ebi.spot.ontotools.curation.repository.MappingSuggestionRepository; import uk.ac.ebi.spot.ontotools.curation.service.MappingSuggestionsService; +import uk.ac.ebi.spot.ontotools.curation.service.OntologyTermService; -import java.util.List; +import java.util.*; +import java.util.stream.Collectors; @Service public class MappingSuggestionsServiceImpl implements MappingSuggestionsService { private static final Logger log = LoggerFactory.getLogger(MappingSuggestionsService.class); + @Autowired + private MappingSuggestionRepository mappingSuggestionRepository; + + @Autowired + private OntologyTermService ontologyTermService; - /** - * TODO: Implement - */ @Override - public void createMappingSuggestion(Entity entity, OntologyTerm ontologyTerm) { + public MappingSuggestion createMappingSuggestion(Entity entity, OntologyTerm ontologyTerm, Provenance provenance) { + log.info("Creating mapping suggestion for entity [{}]: {}", entity.getName(), ontologyTerm.getCurie()); + Optional mappingSuggestionOp = mappingSuggestionRepository.findByEntityIdAndOntologyTermId(entity.getId(), ontologyTerm.getId()); + if (mappingSuggestionOp.isPresent()) { + log.warn("Mapping suggestion already exists: {}", mappingSuggestionOp.get().getId()); + return mappingSuggestionOp.get(); + } + + MappingSuggestion created = mappingSuggestionRepository.insert(new MappingSuggestion(null, entity.getId(), ontologyTerm.getId(), provenance, null)); + log.info("[{} | {}] Mapping suggestion created: {}", entity.getName(), ontologyTerm.getCurie(), created.getId()); + return created; } - /** - * TODO: Implement - */ @Override @Async public void deleteMappingSuggestionsExcluding(Entity entity, List ontologyTerms) { + log.info("Deleting [{}] old mapping suggestions for: {}", ontologyTerms.size(), entity.getName()); + List ontologyTermIds = ontologyTerms.stream().map(OntologyTerm::getId).collect(Collectors.toList()); + List toDelete = mappingSuggestionRepository.findByEntityIdAndOntologyTermIdNotIn(entity.getId(), ontologyTermIds); + log.info("[{}] Found {} mapping suggestions to delete.", entity.getName(), toDelete.size()); + mappingSuggestionRepository.deleteAll(toDelete); + } + @Override + public Map> retrieveMappingSuggestionsForEntities(List entityIds) { + log.info("Retrieving mapping suggestions for entities: {}", entityIds); + List mappingSuggestions = mappingSuggestionRepository.findByEntityIdIn(entityIds); + List ontologyTermIds = mappingSuggestions.stream().map(MappingSuggestion::getOntologyTermId).collect(Collectors.toList()); + Map ontologyTermMap = ontologyTermService.retrieveTerms(ontologyTermIds); + log.info("Found {} mapping suggestions.", mappingSuggestions.size()); + Map> result = new HashMap<>(); + for (MappingSuggestion mappingSuggestion : mappingSuggestions) { + if (!ontologyTermMap.containsKey(mappingSuggestion.getOntologyTermId())) { + log.warn("Unable to find ontology term [{}] for mapping suggestion: {}", mappingSuggestion.getOntologyTermId(), mappingSuggestion.getId()); + continue; + } + List list = result.containsKey(mappingSuggestion.getEntityId()) ? result.get(mappingSuggestion.getEntityId()) : new ArrayList<>(); + mappingSuggestion.setOntologyTerm(ontologyTermMap.get(mappingSuggestion.getOntologyTermId())); + list.add(mappingSuggestion); + result.put(mappingSuggestion.getEntityId(), list); + } + return result; } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java new file mode 100644 index 0000000..9d08508 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java @@ -0,0 +1,188 @@ +package uk.ac.ebi.spot.ontotools.curation.service.impl; + +import org.joda.time.DateTime; +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.scheduling.annotation.Async; +import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; +import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; +import uk.ac.ebi.spot.ontotools.curation.domain.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSTermDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.oxo.OXOMappingResponseDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.zooma.ZoomaResponseDto; +import uk.ac.ebi.spot.ontotools.curation.service.*; +import uk.ac.ebi.spot.ontotools.curation.util.CurationUtil; + +import java.util.*; +import java.util.stream.Stream; + +import static uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants.ZOOMA_CONFIDENCE_HIGH; + +@Service +public class MatchmakerServiceImpl implements MatchmakerService { + + private static final Logger log = LoggerFactory.getLogger(MatchmakerService.class); + + @Autowired + private MappingSuggestionsService mappingSuggestionsService; + + @Autowired + private MappingService mappingService; + + @Autowired + private EntityService entityService; + + @Autowired + private ZoomaService zoomaService; + + @Autowired + private OntologyTermService ontologyTermService; + + @Autowired + private OLSService olsService; + + @Autowired + private OXOService oxoService; + + @Autowired + private UserService userService; + + @Override + @Async + public void runMatchmaking(String sourceId, Project project) { + log.info("Running auto-mapping for source: {}", sourceId); + User robotUser = userService.retrieveRobotUser(); + Stream entityStream = entityService.retrieveEntitiesForSource(sourceId); + entityStream.forEach(entity -> this.autoMap(entity, project, robotUser)); + entityStream.close(); + } + + private void autoMap(Entity entity, Project project, User user) { + /** + * Retrieve annotations from Zooma from datasources stored in the project + */ + List zoomaResults = zoomaService.annotate(entity.getName(), project.getDatasources(), null); + + /** + * Retrieve annotations from Zooma from ontologies stored in the project + */ + zoomaResults.addAll(zoomaService.annotate(entity.getName(), null, project.getOntologies())); + + List highConfidenceIRIs = new ArrayList<>(); + Set finalIRIs = new HashSet<>(); + for (ZoomaResponseDto zoomaResponseDto : zoomaResults) { + if (zoomaResponseDto.getSemanticTags().size() > 1) { + log.warn("Found suggestion with combined terms: {} | {}", entity, zoomaResponseDto.getSemanticTags()); + continue; + } + + String suggestedTermIRI = zoomaResponseDto.getSemanticTags().get(0); + /** + * Retain high confidence terms to attempt exact mapping. + */ + if (zoomaResponseDto.getConfidence().equalsIgnoreCase(ZOOMA_CONFIDENCE_HIGH)) { + highConfidenceIRIs.add(suggestedTermIRI); + } + + /** + * Retain only suggestions pertaining to the ontologies of interest (if these have been specified) + */ + if (project.getOntologies() != null) { + if (project.getOntologies().contains(CurationUtil.ontoFromIRI(suggestedTermIRI))) { + finalIRIs.add(suggestedTermIRI); + } + } else { + finalIRIs.add(suggestedTermIRI); + } + } + + Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); + List termsCreated = new ArrayList<>(); + for (String iri : finalIRIs) { + OntologyTerm ontologyTerm = ontologyTermService.createTerm(iri, project); + if (ontologyTerm != null) { + termsCreated.add(ontologyTerm); + mappingSuggestionsService.createMappingSuggestion(entity, ontologyTerm, provenance); + } + } + + if (!termsCreated.isEmpty()) { + entity = entityService.updateMappingStatus(entity, EntityStatus.SUGGESTIONS_PROVIDED); + if (entity == null) { + return; + } + } + + List newTerms = findExactMapping(entity, termsCreated, highConfidenceIRIs, project, provenance); + if (!newTerms.isEmpty() && termsCreated.isEmpty()) { + entity = entityService.updateMappingStatus(entity, EntityStatus.SUGGESTIONS_PROVIDED); + } + termsCreated.addAll(newTerms); + mappingSuggestionsService.deleteMappingSuggestionsExcluding(entity, termsCreated); + } + + private List findExactMapping(Entity entity, List termsCreated, List highConfidenceIRIs, Project project, Provenance provenance) { + List ontoSuggestions = new ArrayList<>(); + + if (!entity.getMappingStatus().equals(EntityStatus.UNMAPPED)) { + log.warn("Entity has an existing mapping."); + } + + for (OntologyTerm ontologyTerm : termsCreated) { + if (highConfidenceIRIs.contains(ontologyTerm.getIri())) { + mappingService.createMapping(entity, ontologyTerm, provenance); + entity = entityService.updateMappingStatus(entity, EntityStatus.AUTO_MAPPED); + log.info("Found high confidence mapping for [{}] in: {}", entity.getName(), ontologyTerm.getIri()); + return ontoSuggestions; + } + } + + for (OntologyTerm ontologyTerm : termsCreated) { + if (entity.getName().equalsIgnoreCase(ontologyTerm.getLabel())) { + mappingService.createMapping(entity, ontologyTerm, provenance); + entity = entityService.updateMappingStatus(entity, EntityStatus.AUTO_MAPPED); + log.info("Found exact text matching for [{}] in: {}", entity.getName(), ontologyTerm.getIri()); + return ontoSuggestions; + } + } + + for (String iri : highConfidenceIRIs) { + String ontoId = CurationUtil.ontoFromIRI(iri); + List olsTerms = olsService.retrieveTerms(ontoId, iri); + if (olsTerms.isEmpty()) { + log.warn("Found no OLS results. Cannot continue mapping for: {}", entity.getName()); + continue; + } + if (olsTerms.size() > 1) { + log.warn("Found {} OLS results. Using only the first one to map to: {}", olsTerms.size(), entity.getName()); + } + + /** + * TODO: Discuss why are so many calls to OLS required + */ + List oxoMappings = oxoService.findMapping(Arrays.asList(new String[]{olsTerms.get(0).getCurie()}), project.getOntologies()); + for (OXOMappingResponseDto oxoMappingResponseDto : oxoMappings) { + String targetOntoId = oxoMappingResponseDto.getTargetPrefix().toLowerCase(); + olsTerms = olsService.retrieveTerms(targetOntoId, oxoMappingResponseDto.getCurie()); + if (olsTerms.isEmpty()) { + continue; + } + String resultIri = olsTerms.get(0).getIri(); + OntologyTerm ontologyTerm = ontologyTermService.createTerm(resultIri, project); + if (ontologyTerm != null) { + ontoSuggestions.add(ontologyTerm); + mappingSuggestionsService.createMappingSuggestion(entity, ontologyTerm, provenance); + } + } + } + + return ontoSuggestions; + } + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OLSServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OLSServiceImpl.java index f1a77c0..eaa8797 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OLSServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OLSServiceImpl.java @@ -45,10 +45,18 @@ public class OLSServiceImpl implements OLSService, ConfigListener { @Autowired private ConfigRegistry configRegistry; + /** + * Map to keep alias correspondences to ensure namespace acceptance by the service. + * For example, Orphanet to ORDO (since sometimes data retrieved from OXO uses the Orphanet namespace) + */ private Map ontoAliases; @PostConstruct public void initialize() { + /** + * Register this service as a listener for real-time configuration updates. + * Retrieve config data from DB. + */ configRegistry.registerListener(this); this.ontoAliases = externalServiceConfigService.retrieveAliases(SERVICE_NAME); } @@ -85,8 +93,22 @@ public List retrieveTerms(String ontologyId, String identifierValue) return new ArrayList<>(); } + /** + * TODO: Implement + * Scheduled task to periodically go through all local terms with status CURRENT | AWAITING_IMPORT or NEEDS_IMPORT + * and repeat the process associated with checking the status - as per the initial term creation + *

+ * Why?? + */ + public void importOLS() { + + } + @Override public void updateAliases(List aliases) { + /** + * Call received in real-time from the ConfigRegistry to update aliases. + */ this.ontoAliases.putAll(CurationUtil.parseAliases(aliases)); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OXOServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OXOServiceImpl.java index bb88c47..c6b754c 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OXOServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OXOServiceImpl.java @@ -41,10 +41,18 @@ public class OXOServiceImpl implements OXOService, ConfigListener { @Autowired private ConfigRegistry configRegistry; + /** + * Map to keep alias correspondences to ensure namespace acceptance by the service. + * For example, ORDO to Orphanet (since OXO requires the Orphanet namespace) + */ private Map ontoAliases; @PostConstruct public void initialize() { + /** + * Register this service as a listener for real-time configuration updates. + * Retrieve config data from DB. + */ configRegistry.registerListener(this); this.ontoAliases = externalServiceConfigService.retrieveAliases(SERVICE_NAME); } @@ -52,7 +60,6 @@ public void initialize() { public List findMapping(List ids, List projectOntologies) { List ontologies = this.fixAliases(projectOntologies); log.info("Calling OXO: {} - {} | {}", ids, projectOntologies, ontologies); - log.info(" -- "); try { HttpEntity httpEntity = restInteractionConfig.httpEntity() .withJsonBody(new OXORequestDto(ids, ontologies, restInteractionConfig.getOxoMappingDistance())) @@ -85,7 +92,7 @@ private List fixAliases(List ontologies) { result.add(ontoAliases.get(ontology)); } } else { - result.add(ontoAliases.get(ontology)); + result.add(ontology); } } return result; @@ -93,6 +100,9 @@ private List fixAliases(List ontologies) { @Override public void updateAliases(List aliases) { + /** + * Call received in real-time from the ConfigRegistry to update aliases. + */ this.ontoAliases.putAll(CurationUtil.parseAliases(aliases)); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java index 17180db..d62fcbb 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java @@ -1,16 +1,21 @@ package uk.ac.ebi.spot.ontotools.curation.service.impl; +import org.apache.commons.codec.digest.DigestUtils; +import org.apache.commons.collections4.CollectionUtils; import org.slf4j.Logger; import org.slf4j.LoggerFactory; import org.springframework.beans.factory.annotation.Autowired; import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.constants.TermStatus; import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; import uk.ac.ebi.spot.ontotools.curation.repository.OntologyTermRepository; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSTermDto; +import uk.ac.ebi.spot.ontotools.curation.service.OLSService; import uk.ac.ebi.spot.ontotools.curation.service.OntologyTermService; +import uk.ac.ebi.spot.ontotools.curation.util.CurationUtil; -import java.util.HashMap; -import java.util.List; -import java.util.Map; +import java.util.*; @Service public class OntologyTermServiceImpl implements OntologyTermService { @@ -20,7 +25,10 @@ public class OntologyTermServiceImpl implements OntologyTermService { @Autowired private OntologyTermRepository ontologyTermRepository; - @Override + @Autowired + private OLSService olsService; + + // @Override public Map getOntologyTermsById(List ontoTermIds) { log.info("Retrieving ontology terms for {} ids.", ontoTermIds.size()); Map mappingMap = new HashMap<>(); @@ -31,11 +39,79 @@ public Map getOntologyTermsById(List ontoTermIds) return mappingMap; } - /** - * TODO: Implement - */ @Override - public OntologyTerm createTerm(String iri) { - return null; + public OntologyTerm createTerm(String iri, Project project) { + log.info("Creating term: {}", iri); + Optional ontologyTermOp = ontologyTermRepository.findByIriHash(DigestUtils.sha256Hex(iri)); + if (ontologyTermOp.isPresent()) { + log.warn("Ontology term already exists: {} | {}", ontologyTermOp.get().getCurie(), ontologyTermOp.get().getLabel()); + return ontologyTermOp.get(); + } + + List preferredOntoResponse = olsService.retrieveTerms(project.getPreferredMappintOntology(), iri); + List parentOntoResponse = new ArrayList<>(); + String ontoId = CurationUtil.ontoFromIRI(iri); + String termStatus; + if (!ontoId.equalsIgnoreCase(project.getPreferredMappintOntology())) { + parentOntoResponse = olsService.retrieveTerms(project.getPreferredMappintOntology(), iri); + termStatus = parseStatus(preferredOntoResponse, parentOntoResponse, null); + } else { + termStatus = parseStatus(preferredOntoResponse, null, null); + } + + OntologyTerm ot; + if (termStatus.equalsIgnoreCase(TermStatus.DELETED.name())) { + /** + * TODO: Discuss + * + * Previous code: + * ot = new OntologyTerm(null, "Not found", iri, DigestUtils.sha256Hex(iri), "Not found", MappingStatus.DELETED.name(), null, null); + */ + log.warn("Found DELETED term: {}", iri); + return null; + } else { + if (termStatus.equalsIgnoreCase(TermStatus.CURRENT.name())) { + OLSTermDto olsTermDto = preferredOntoResponse.get(0); + ot = new OntologyTerm(null, olsTermDto.getCurie(), iri, + DigestUtils.sha256Hex(iri), olsTermDto.getLabel(), TermStatus.CURRENT.name(), null, null); + } else { + OLSTermDto olsTermDto = parentOntoResponse.get(0); + ot = new OntologyTerm(null, olsTermDto.getCurie(), iri, DigestUtils.sha256Hex(iri), olsTermDto.getLabel(), termStatus, null, null); + } + } + + ot = ontologyTermRepository.insert(ot); + log.info("Created ontology term [{} | {}]: {}", ot.getCurie(), ot.getLabel(), ot.getId()); + return ot; + } + + @Override + public Map retrieveTerms(List ontologyTermIds) { + log.info("Retrieving {} ontology terms.", ontologyTermIds.size()); + Map result = new HashMap<>(); + List ontologyTerms = ontologyTermRepository.findByIdIn(ontologyTermIds); + for (OntologyTerm ontologyTerm : ontologyTerms) { + result.put(ontologyTerm.getId(), ontologyTerm); + } + return result; + } + + private String parseStatus(List preferredOntoResponse, List parentOntoResponse, String previousState) { + if (CollectionUtils.isEmpty(preferredOntoResponse) && CollectionUtils.isEmpty(parentOntoResponse)) { + return TermStatus.DELETED.name(); + } + + if ((!CollectionUtils.isEmpty(preferredOntoResponse) && preferredOntoResponse.get(0).getObsolete()) || + (!CollectionUtils.isEmpty(parentOntoResponse) && parentOntoResponse.get(0).getObsolete())) { + return TermStatus.OBSOLETE.name(); + } + + if (!CollectionUtils.isEmpty(preferredOntoResponse)) { + return TermStatus.CURRENT.name(); + } + if (previousState == null) { + return TermStatus.NEEDS_IMPORT.name(); + } + return previousState; } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/UserServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/UserServiceImpl.java index 2914d72..2e40dc9 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/UserServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/UserServiceImpl.java @@ -11,7 +11,9 @@ import uk.ac.ebi.spot.ontotools.curation.exception.EntityNotFoundException; import uk.ac.ebi.spot.ontotools.curation.repository.UserRepository; import uk.ac.ebi.spot.ontotools.curation.service.UserService; +import uk.ac.ebi.spot.ontotools.curation.system.SystemConfigProperties; +import javax.annotation.PostConstruct; import java.util.ArrayList; import java.util.List; import java.util.Optional; @@ -24,6 +26,21 @@ public class UserServiceImpl implements UserService { @Autowired private UserRepository userRepository; + @Autowired + private SystemConfigProperties systemConfigProperties; + + private User robotUser; + + @PostConstruct + public void initialize() { + this.robotUser = new User(null, "Robot User", systemConfigProperties.getRobotUser(), new ArrayList<>(), true); + } + + @Override + public User retrieveRobotUser() { + return robotUser; + } + @Override public User findByEmail(String email) { log.info("Retrieving user: {}", email); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ZoomaServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ZoomaServiceImpl.java index 1468a27..a4397c7 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ZoomaServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ZoomaServiceImpl.java @@ -65,4 +65,15 @@ public List annotate(String entityValue, List datasour return new ArrayList<>(); } + + /** + * TODO: Implement + * Scheduled task to periodically go through all entties and re-attempt mapping + * + * Whyy?? + */ + public void importZooma() { + + } + } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/system/SystemConfigProperties.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/system/SystemConfigProperties.java index 6619c85..e0e5ccc 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/system/SystemConfigProperties.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/system/SystemConfigProperties.java @@ -21,6 +21,9 @@ public class SystemConfigProperties { @Value("${ontotools-curation.auth.cert:#{NULL}}") private String certPath; + @Value("${ontotools-curation.admin.robot-user}") + private String robotUser; + public String getServerName() { return serverName; } @@ -48,4 +51,8 @@ public boolean isAuthEnabled() { public String getCertPath() { return certPath; } + + public String getRobotUser() { + return robotUser; + } } diff --git a/src/main/resources/application.yml b/src/main/resources/application.yml index 48063f7..544bfce 100644 --- a/src/main/resources/application.yml +++ b/src/main/resources/application.yml @@ -11,6 +11,8 @@ ontotools-curation: auth: enabled: true cert: aap.der + admin: + robot-user: ontotools-curator@ebi.ac.uk ontotools: zooma: diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java new file mode 100644 index 0000000..b78c860 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java @@ -0,0 +1,4 @@ +package uk.ac.ebi.spot.ontotools.curation; + +public class EntityControllerTest { +} diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index b2bb56e..939641e 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -73,6 +73,8 @@ public void setup() throws Exception { mapper = new ObjectMapper(); mockMvc = MockMvcBuilders.webAppContextSetup(webApplicationContext).build(); + userRepository.insert(new User(null, "Robot User", "ontotools-curator@ebi.ac.uk", new ArrayList<>(), true)); + user1 = userRepository.insert(new User(null, "Test User 1", "test1@test.com", new ArrayList<>(), false)); authTokenRepository.insert(new AuthToken(null, "token1", "test1@test.com")); @@ -85,7 +87,7 @@ public void setup() throws Exception { protected ProjectDto createProject(String name, String token) throws Exception { String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS; - ProjectCreationDto projectCreationDto = new ProjectCreationDto(name, "Description", null, null); + ProjectCreationDto projectCreationDto = new ProjectCreationDto(name, "Description", null, null, "EFO"); String response = mockMvc.perform(post(endpoint) .contentType(MediaType.APPLICATION_JSON) @@ -104,6 +106,7 @@ protected ProjectDto createProject(String name, String token) throws Exception { assertNotNull(actual.getOntologies()); assertTrue(actual.getDatasources().isEmpty()); assertTrue(actual.getOntologies().isEmpty()); + assertEquals("EFO", actual.getPreferredMappingOntology()); return actual; } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OXOServiceTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OXOServiceTest.java index eb1074f..25a2303 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OXOServiceTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OXOServiceTest.java @@ -2,10 +2,11 @@ import org.junit.Test; import org.springframework.beans.factory.annotation.Autowired; +import uk.ac.ebi.spot.ontotools.curation.domain.ExternalServiceConfig; import uk.ac.ebi.spot.ontotools.curation.rest.dto.oxo.OXOMappingResponseDto; +import uk.ac.ebi.spot.ontotools.curation.service.ConfigRegistry; import uk.ac.ebi.spot.ontotools.curation.service.OXOService; -import java.util.ArrayList; import java.util.Arrays; import java.util.List; import java.util.stream.Collectors; @@ -18,11 +19,14 @@ public class OXOServiceTest extends IntegrationTest { @Autowired private OXOService oxoService; + @Autowired + private ConfigRegistry configRegistry; + @Test public void shouldRetrieveTerms() { String termId = "http://www.orpha.net/ORDO/Orphanet_15"; List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "Orphanet"}); - + configRegistry.updateAliases(new ExternalServiceConfig(null, "OXO", Arrays.asList(new String[]{"ordo::Orphanet"}))); List terms = oxoService.findMapping(Arrays.asList(new String[]{termId}), ontologies); assertEquals(3, terms.size()); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java index 12bcad7..f2b2a3e 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java @@ -83,6 +83,7 @@ public void shouldUpdateProject() throws Exception { projectDto.getDescription(), Arrays.asList(new String[]{"gwas"}), Arrays.asList(new String[]{"ordo"}), + projectDto.getPreferredMappingOntology(), projectDto.getCreated()); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); @@ -114,6 +115,7 @@ public void shouldNotUpdateProject() throws Exception { projectDto.getDescription(), Arrays.asList(new String[]{"gwas"}), Arrays.asList(new String[]{"ordo"}), + projectDto.getPreferredMappingOntology(), projectDto.getCreated()); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); From 8f806678647d23f569a23ec2eb8bf66159412f91 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Wed, 10 Feb 2021 20:57:16 +0800 Subject: [PATCH 07/72] Added tests for MatchMaking and EntityController. --- .../spot/ontotools/curation/Application.java | 8 +- .../curation/config/WebMvcConfig.java | 8 -- .../rest/controller/EntityController.java | 6 +- .../curation/rest/dto/RestResponsePage.java | 45 ++++++ .../curation/rest/dto/ols/OLSTermDto.java | 13 +- .../curation/service/OntologyTermService.java | 2 + .../service/impl/MatchmakerServiceImpl.java | 5 +- .../service/impl/OntologyTermServiceImpl.java | 19 +-- .../ontotools/curation/util/CurationUtil.java | 8 ++ .../curation/EntityControllerTest.java | 129 +++++++++++++++++- .../ontotools/curation/IntegrationTest.java | 86 ++++++++++-- .../ontotools/curation/MatchMakingTest.java | 118 ++++++++++++++++ .../ontotools/curation/OLSServiceTest.java | 2 +- .../curation/ProjectsControllerTest.java | 14 +- .../curation/SourcesControllerTest.java | 35 +---- 15 files changed, 406 insertions(+), 92 deletions(-) create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/RestResponsePage.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/Application.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/Application.java index 62a91fa..9feff60 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/Application.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/Application.java @@ -6,8 +6,6 @@ import org.springframework.beans.factory.annotation.Autowired; import org.springframework.boot.SpringApplication; import org.springframework.boot.autoconfigure.SpringBootApplication; -import org.springframework.boot.autoconfigure.data.mongo.MongoDataAutoConfiguration; -import org.springframework.boot.autoconfigure.mongo.MongoAutoConfiguration; import org.springframework.scheduling.annotation.EnableAsync; import org.springframework.scheduling.annotation.EnableScheduling; import org.springframework.web.servlet.config.annotation.WebMvcConfigurer; @@ -19,11 +17,7 @@ import java.net.InetAddress; import java.net.UnknownHostException; -@SpringBootApplication(scanBasePackages = "uk.ac.ebi.spot.ontotools" -// exclude = { -// MongoDataAutoConfiguration.class -// } - ) +@SpringBootApplication(scanBasePackages = "uk.ac.ebi.spot.ontotools") @EnableScheduling @EnableAsync public class Application implements WebMvcConfigurer { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/WebMvcConfig.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/WebMvcConfig.java index 07122ee..1864054 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/WebMvcConfig.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/WebMvcConfig.java @@ -3,15 +3,12 @@ import org.springframework.context.annotation.Bean; import org.springframework.context.annotation.Configuration; import org.springframework.core.annotation.Order; -import org.springframework.core.task.SimpleAsyncTaskExecutor; import org.springframework.web.multipart.commons.CommonsMultipartResolver; import org.springframework.web.multipart.support.MultipartFilter; import org.springframework.web.servlet.config.annotation.CorsRegistry; import org.springframework.web.servlet.config.annotation.InterceptorRegistry; import org.springframework.web.servlet.config.annotation.WebMvcConfigurer; -import java.util.concurrent.Executor; - public class WebMvcConfig { @@ -28,11 +25,6 @@ public void addInterceptors(InterceptorRegistry registry) { registry.addInterceptor(authInterceptor()); } - @Bean - public Executor taskExecutor() { - return new SimpleAsyncTaskExecutor(); - } - @Bean @Order(0) public MultipartFilter multipartFilter() { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java index 9fcb0fe..f251357 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java @@ -4,7 +4,6 @@ import org.slf4j.LoggerFactory; import org.springframework.beans.factory.annotation.Autowired; import org.springframework.data.domain.Page; -import org.springframework.data.domain.PageImpl; import org.springframework.data.domain.Pageable; import org.springframework.data.web.PageableDefault; import org.springframework.http.HttpStatus; @@ -19,6 +18,7 @@ import uk.ac.ebi.spot.ontotools.curation.rest.assembler.EntityDtoAssembler; import uk.ac.ebi.spot.ontotools.curation.rest.assembler.SourceDtoAssembler; import uk.ac.ebi.spot.ontotools.curation.rest.dto.EntityDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.RestResponsePage; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; import uk.ac.ebi.spot.ontotools.curation.service.*; import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; @@ -58,7 +58,7 @@ public class EntityController { @GetMapping(value = "/{projectId}" + CurationConstants.API_ENTITIES, produces = MediaType.APPLICATION_JSON_VALUE) @ResponseStatus(HttpStatus.OK) - public Page getEntities(@PathVariable String projectId, @PageableDefault(size = 20, page = 0) Pageable pageable, HttpServletRequest request) { + public RestResponsePage getEntities(@PathVariable String projectId, @PageableDefault(size = 20, page = 0) Pageable pageable, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to retrieve entities: {}", user.getEmail(), projectId); projectService.verifyAccess(projectId, user); @@ -76,7 +76,7 @@ public Page getEntities(@PathVariable String projectId, @PageableDefa for (Entity entity : entities.getContent()) { entityDtos.add(EntityDtoAssembler.assemble(entity, sourceMap.get(entity.getSourceId()), mappings.get(entity.getId()), mappingSuggestions.get(entity.getId()))); } - return new PageImpl<>(entityDtos, pageable, entities.getTotalElements()); + return new RestResponsePage<>(entityDtos, pageable, entities.getTotalElements()); } /** diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/RestResponsePage.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/RestResponsePage.java new file mode 100644 index 0000000..bbe8cfa --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/RestResponsePage.java @@ -0,0 +1,45 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonIgnoreProperties; +import com.fasterxml.jackson.annotation.JsonProperty; +import com.fasterxml.jackson.databind.JsonNode; +import org.springframework.data.domain.PageImpl; +import org.springframework.data.domain.PageRequest; +import org.springframework.data.domain.Pageable; + +import java.util.ArrayList; +import java.util.List; + +@JsonIgnoreProperties(ignoreUnknown = true) +public class RestResponsePage extends PageImpl { + + private static final long serialVersionUID = 3248189030448292002L; + + @JsonCreator(mode = JsonCreator.Mode.PROPERTIES) + public RestResponsePage(@JsonProperty("content") List content, + @JsonProperty("number") int number, + @JsonProperty("size") int size, + @JsonProperty("totalElements") Long totalElements, + @JsonProperty("pageable") JsonNode pageable, + @JsonProperty("last") boolean last, + @JsonProperty("totalPages") int totalPages, + @JsonProperty("sort") JsonNode sort, + @JsonProperty("first") boolean first, + @JsonProperty("numberOfElements") int numberOfElements) { + super(content, PageRequest.of(number, size), totalElements); + } + + public RestResponsePage(List content, Pageable pageable, long total) { + super(content, pageable, total); + } + + public RestResponsePage(List content) { + super(content); + } + + public RestResponsePage() { + super(new ArrayList()); + } + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSTermDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSTermDto.java index 9be4c98..5952fc1 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSTermDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSTermDto.java @@ -18,11 +18,8 @@ public final class OLSTermDto implements Serializable { @JsonProperty("iri") private final String iri; - @JsonProperty("curie") - private final String curie; - @JsonProperty("obo_id") - private final String oboId; + private final String curie; @JsonProperty("label") private final String label; @@ -32,13 +29,11 @@ public final class OLSTermDto implements Serializable { @JsonCreator public OLSTermDto(@JsonProperty("iri") String iri, - @JsonProperty("curie") String curie, - @JsonProperty("obo_id") String oboId, + @JsonProperty("obo_id") String curie, @JsonProperty("label") String label, @JsonProperty("is_obsolete") Boolean obsolete) { this.iri = iri; this.curie = curie; - this.oboId = oboId; this.label = label; this.obsolete = obsolete; } @@ -51,10 +46,6 @@ public String getCurie() { return curie; } - public String getOboId() { - return oboId; - } - public String getLabel() { return label; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java index 89fb5b2..e3fe5d6 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java @@ -10,4 +10,6 @@ public interface OntologyTermService { OntologyTerm createTerm(String iri, Project project); Map retrieveTerms(List ontologyTermIds); + + List retrieveAllTerms(); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java index 9d08508..369c976 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java @@ -7,7 +7,6 @@ import org.springframework.scheduling.annotation.Async; import org.springframework.stereotype.Service; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; -import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; import uk.ac.ebi.spot.ontotools.curation.domain.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; @@ -58,6 +57,8 @@ public class MatchmakerServiceImpl implements MatchmakerService { public void runMatchmaking(String sourceId, Project project) { log.info("Running auto-mapping for source: {}", sourceId); User robotUser = userService.retrieveRobotUser(); + project.setOntologies(CurationUtil.toLowerCase(project.getOntologies())); + project.setPreferredMappintOntology(project.getPreferredMappintOntology().toLowerCase()); Stream entityStream = entityService.retrieveEntitiesForSource(sourceId); entityStream.forEach(entity -> this.autoMap(entity, project, robotUser)); entityStream.close(); @@ -94,7 +95,7 @@ private void autoMap(Entity entity, Project project, User user) { * Retain only suggestions pertaining to the ontologies of interest (if these have been specified) */ if (project.getOntologies() != null) { - if (project.getOntologies().contains(CurationUtil.ontoFromIRI(suggestedTermIRI))) { + if (project.getOntologies().contains(CurationUtil.ontoFromIRI(suggestedTermIRI).toLowerCase())) { finalIRIs.add(suggestedTermIRI); } } else { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java index d62fcbb..5142c1c 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java @@ -28,17 +28,6 @@ public class OntologyTermServiceImpl implements OntologyTermService { @Autowired private OLSService olsService; - // @Override - public Map getOntologyTermsById(List ontoTermIds) { - log.info("Retrieving ontology terms for {} ids.", ontoTermIds.size()); - Map mappingMap = new HashMap<>(); - List ontologyTerms = ontologyTermRepository.findByIdIn(ontoTermIds); - for (OntologyTerm ontologyTerm : ontologyTerms) { - mappingMap.put(ontologyTerm.getId(), ontologyTerm); - } - return mappingMap; - } - @Override public OntologyTerm createTerm(String iri, Project project) { log.info("Creating term: {}", iri); @@ -53,7 +42,7 @@ public OntologyTerm createTerm(String iri, Project project) { String ontoId = CurationUtil.ontoFromIRI(iri); String termStatus; if (!ontoId.equalsIgnoreCase(project.getPreferredMappintOntology())) { - parentOntoResponse = olsService.retrieveTerms(project.getPreferredMappintOntology(), iri); + parentOntoResponse = olsService.retrieveTerms(ontoId, iri); termStatus = parseStatus(preferredOntoResponse, parentOntoResponse, null); } else { termStatus = parseStatus(preferredOntoResponse, null, null); @@ -96,6 +85,12 @@ public Map retrieveTerms(List ontologyTermIds) { return result; } + @Override + public List retrieveAllTerms() { + log.info("Retrieving all ontology terms."); + return ontologyTermRepository.findAll(); + } + private String parseStatus(List preferredOntoResponse, List parentOntoResponse, String previousState) { if (CollectionUtils.isEmpty(preferredOntoResponse) && CollectionUtils.isEmpty(parentOntoResponse)) { return TermStatus.DELETED.name(); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java index a1ec46f..f029499 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java @@ -4,9 +4,17 @@ import java.util.HashMap; import java.util.List; import java.util.Map; +import java.util.stream.Collectors; public class CurationUtil { + public static List toLowerCase(List list) { + if (list == null) { + return null; + } + return list.stream().map(String::toLowerCase).collect(Collectors.toList()); + } + public static List sToList(String s) { List list = new ArrayList<>(); if (s == null) { diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java index b78c860..aac2ee6 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java @@ -1,4 +1,131 @@ package uk.ac.ebi.spot.ontotools.curation; -public class EntityControllerTest { +import com.fasterxml.jackson.core.type.TypeReference; +import org.junit.Test; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.http.MediaType; +import org.springframework.test.context.ContextConfiguration; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; +import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.*; +import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; +import uk.ac.ebi.spot.ontotools.curation.service.UserService; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; + +import java.util.Arrays; +import java.util.List; + +import static org.junit.Assert.assertEquals; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.get; +import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; + +@ContextConfiguration(classes = {IntegrationTest.MockTaskExecutorConfig.class}) +public class EntityControllerTest extends IntegrationTest { + + @Autowired + private UserService userService; + + @Autowired + private ProjectService projectService; + + private Project project; + + private SourceDto sourceDto; + + @Override + public void setup() throws Exception { + super.setup(); + List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); + List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); + ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo"); + user1 = userService.findByEmail(user1.getEmail()); + project = projectService.retrieveProject(projectDto.getId(), user1); + sourceDto = super.createSource(project.getId()); + + super.createEntityTestData(sourceDto.getId(), user1); + } + + /** + * GET /v1/projects/{projectId}/entities + */ + @Test + public void shouldGetEntities() throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_ENTITIES; + String response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + RestResponsePage entitiesPage = mapper.readValue(response, new TypeReference>() { + }); + assertEquals(1, entitiesPage.getTotalElements()); + + EntityDto actual = entitiesPage.getContent().get(0); + assertEquals("Achondroplasia", actual.getName()); + assertEquals(EntityStatus.AUTO_MAPPED.name(), actual.getMappingStatus()); + + assertEquals(1, actual.getMappings().size()); + assertEquals("Orphanet:15", actual.getMappings().get(0).getOntologyTerm().getCurie()); + assertEquals(MappingStatus.AWAITING_REVIEW.name(), actual.getMappings().get(0).getStatus()); + + assertEquals(2, actual.getMappingSuggestions().size()); + int foundCuries = 0; + for (MappingSuggestionDto mappingSuggestion : actual.getMappingSuggestions()) { + if (mappingSuggestion.getOntologyTerm().getCurie().equalsIgnoreCase("Orphanet:15")) { + foundCuries++; + } + if (mappingSuggestion.getOntologyTerm().getCurie().equalsIgnoreCase("MONDO:0007037")) { + foundCuries++; + } + } + + assertEquals(2, foundCuries); + assertEquals(sourceDto.getId(), actual.getSource().getId()); + } + + /** + * GET /v1/projects/{projectId}/entities/{entityId} + */ + @Test + public void shouldGetEntity() throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_ENTITIES + "/" + entity.getId(); + String response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + EntityDto actual = mapper.readValue(response, new TypeReference() { + }); + + assertEquals("Achondroplasia", actual.getName()); + assertEquals(EntityStatus.AUTO_MAPPED.name(), actual.getMappingStatus()); + + assertEquals(1, actual.getMappings().size()); + assertEquals("Orphanet:15", actual.getMappings().get(0).getOntologyTerm().getCurie()); + assertEquals(MappingStatus.AWAITING_REVIEW.name(), actual.getMappings().get(0).getStatus()); + + assertEquals(2, actual.getMappingSuggestions().size()); + int foundCuries = 0; + for (MappingSuggestionDto mappingSuggestion : actual.getMappingSuggestions()) { + if (mappingSuggestion.getOntologyTerm().getCurie().equalsIgnoreCase("Orphanet:15")) { + foundCuries++; + } + if (mappingSuggestion.getOntologyTerm().getCurie().equalsIgnoreCase("MONDO:0007037")) { + foundCuries++; + } + } + + assertEquals(2, foundCuries); + assertEquals(sourceDto.getId(), actual.getSource().getId()); + } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index 939641e..6fefe2d 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -2,6 +2,8 @@ import com.fasterxml.jackson.core.type.TypeReference; import com.fasterxml.jackson.databind.ObjectMapper; +import org.apache.commons.codec.digest.DigestUtils; +import org.joda.time.DateTime; import org.junit.Before; import org.junit.runner.RunWith; import org.springframework.beans.factory.annotation.Autowired; @@ -17,17 +19,19 @@ import org.springframework.test.web.servlet.MockMvc; import org.springframework.test.web.servlet.setup.MockMvcBuilders; import org.springframework.web.context.WebApplicationContext; -import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; -import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.*; +import uk.ac.ebi.spot.ontotools.curation.domain.*; import uk.ac.ebi.spot.ontotools.curation.domain.auth.AuthToken; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; -import uk.ac.ebi.spot.ontotools.curation.repository.AuthTokenRepository; -import uk.ac.ebi.spot.ontotools.curation.repository.UserRepository; +import uk.ac.ebi.spot.ontotools.curation.repository.*; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectCreationDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceCreationDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; import java.util.ArrayList; +import java.util.List; import static org.junit.Assert.*; import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.post; @@ -59,6 +63,18 @@ public TaskExecutor taskExecutor() { @Autowired private AuthTokenRepository authTokenRepository; + @Autowired + private OntologyTermRepository ontologyTermRepository; + + @Autowired + private MappingSuggestionRepository mappingSuggestionRepository; + + @Autowired + private MappingRepository mappingRepository; + + @Autowired + private EntityRepository entityRepository; + protected MockMvc mockMvc; protected ObjectMapper mapper; @@ -67,6 +83,8 @@ public TaskExecutor taskExecutor() { protected User user2; + protected Entity entity; + @Before public void setup() throws Exception { mongoTemplate.getDb().drop(); @@ -85,9 +103,11 @@ public void setup() throws Exception { authTokenRepository.insert(new AuthToken(null, "supertoken", "super@test.com")); } - protected ProjectDto createProject(String name, String token) throws Exception { + protected ProjectDto createProject(String name, String token, + List datasources, List ontologies, + String preferredMappingOntology) throws Exception { String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS; - ProjectCreationDto projectCreationDto = new ProjectCreationDto(name, "Description", null, null, "EFO"); + ProjectCreationDto projectCreationDto = new ProjectCreationDto(name, "Description", datasources, ontologies, preferredMappingOntology); String response = mockMvc.perform(post(endpoint) .contentType(MediaType.APPLICATION_JSON) @@ -104,10 +124,58 @@ protected ProjectDto createProject(String name, String token) throws Exception { assertEquals(projectCreationDto.getDescription(), actual.getDescription()); assertNotNull(actual.getDatasources()); assertNotNull(actual.getOntologies()); - assertTrue(actual.getDatasources().isEmpty()); - assertTrue(actual.getOntologies().isEmpty()); - assertEquals("EFO", actual.getPreferredMappingOntology()); + if (datasources == null) { + assertTrue(actual.getDatasources().isEmpty()); + } else { + assertEquals(datasources.size(), actual.getDatasources().size()); + } + if (ontologies == null) { + assertTrue(actual.getOntologies().isEmpty()); + } else { + assertEquals(ontologies.size(), actual.getOntologies().size()); + } + if (preferredMappingOntology != null) { + assertEquals(preferredMappingOntology, actual.getPreferredMappingOntology()); + } + return actual; + } + + protected SourceDto createSource(String projectId) throws Exception { + SourceCreationDto sourceCreationDto = new SourceCreationDto("Source name", + "Description", + null, + SourceType.LOCAL.name()); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectId + CurationConstants.API_SOURCES; + + String response = mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(sourceCreationDto)) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isCreated()) + .andReturn() + .getResponse() + .getContentAsString(); + + SourceDto actual = mapper.readValue(response, new TypeReference() { + }); + assertEquals(sourceCreationDto.getName(), actual.getName()); + assertEquals(sourceCreationDto.getDescription(), actual.getDescription()); + assertEquals(sourceCreationDto.getType(), actual.getType()); return actual; } + protected void createEntityTestData(String sourceId, User user) { + Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); + entity = entityRepository.insert(new Entity(null, "Achondroplasia", sourceId, provenance, EntityStatus.AUTO_MAPPED)); + + OntologyTerm orphaTerm = ontologyTermRepository.insert(new OntologyTerm(null, "Orphanet:15", "http://www.orpha.net/ORDO/Orphanet_15", + DigestUtils.sha256Hex("http://www.orpha.net/ORDO/Orphanet_15"), "Achondroplasia", TermStatus.CURRENT.name(), null, null)); + + OntologyTerm mondoTerm = ontologyTermRepository.insert(new OntologyTerm(null, "MONDO:0007037", "http://purl.obolibrary.org/obo/MONDO_0007037", + DigestUtils.sha256Hex("http://purl.obolibrary.org/obo/MONDO_0007037"), "Achondroplasia", TermStatus.NEEDS_IMPORT.name(), null, null)); + + mappingSuggestionRepository.insert(new MappingSuggestion(null, entity.getId(), orphaTerm.getId(), provenance, null)); + mappingSuggestionRepository.insert(new MappingSuggestion(null, entity.getId(), mondoTerm.getId(), provenance, null)); + mappingRepository.insert(new Mapping(null, entity.getId(), orphaTerm.getId(), false, new ArrayList<>(), MappingStatus.AWAITING_REVIEW.name(), provenance, null)); + } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java new file mode 100644 index 0000000..30e3023 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java @@ -0,0 +1,118 @@ +package uk.ac.ebi.spot.ontotools.curation; + +import org.joda.time.DateTime; +import org.junit.Test; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.test.context.ContextConfiguration; +import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; +import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; +import uk.ac.ebi.spot.ontotools.curation.constants.TermStatus; +import uk.ac.ebi.spot.ontotools.curation.domain.*; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.repository.ExternalServiceConfigRepository; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; +import uk.ac.ebi.spot.ontotools.curation.service.*; + +import java.util.Arrays; +import java.util.HashMap; +import java.util.List; +import java.util.Map; + +import static org.junit.Assert.assertEquals; +import static org.junit.Assert.assertTrue; + +@ContextConfiguration(classes = {IntegrationTest.MockTaskExecutorConfig.class}) +public class MatchMakingTest extends IntegrationTest { + + @Autowired + private ExternalServiceConfigRepository externalServiceConfigRepository; + + @Autowired + private EntityService entityService; + + @Autowired + private ProjectService projectService; + + @Autowired + private UserService userService; + + @Autowired + private MatchmakerService matchmakerService; + + @Autowired + private MappingSuggestionsService mappingSuggestionsService; + + @Autowired + private MappingService mappingService; + + @Autowired + private OntologyTermService ontologyTermService; + + private Project project; + + private SourceDto sourceDto; + + private Entity entity; + + @Override + public void setup() throws Exception { + super.setup(); + externalServiceConfigRepository.insert(new ExternalServiceConfig(null, "OLS", Arrays.asList(new String[]{"orphanet::ordo"}))); + externalServiceConfigRepository.insert(new ExternalServiceConfig(null, "OXO", Arrays.asList(new String[]{"ordo::orphanet"}))); + + List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); + List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); + + ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo"); + user1 = userService.findByEmail(user1.getEmail()); + project = projectService.retrieveProject(projectDto.getId(), user1); + sourceDto = super.createSource(project.getId()); + Provenance provenance = new Provenance(user1.getName(), user1.getEmail(), DateTime.now()); + + /** + * Other examples: + * - Hemochromatosis type 1 + * - Retinal dystrophy + */ + entity = entityService.createEntity(new Entity(null, "Achondroplasia", sourceDto.getId(), provenance, EntityStatus.UNMAPPED)); + } + + @Test + public void runMatchmakingTest() { + matchmakerService.runMatchmaking(sourceDto.getId(), project); + Entity updated = entityService.retrieveEntity(entity.getId()); + assertEquals(EntityStatus.AUTO_MAPPED, updated.getMappingStatus()); + + List ontologyTerms = ontologyTermService.retrieveAllTerms(); + Map ontoMap = new HashMap<>(); + for (OntologyTerm ontologyTerm : ontologyTerms) { + ontoMap.put(ontologyTerm.getId(), ontologyTerm); + if (ontologyTerm.getCurie().equalsIgnoreCase("Orphanet:15")) { + assertEquals(TermStatus.CURRENT.name(), ontologyTerm.getStatus()); + } + if (ontologyTerm.getCurie().equalsIgnoreCase("MONDO:0007037")) { + assertEquals(TermStatus.NEEDS_IMPORT.name(), ontologyTerm.getStatus()); + } + } + + Map> mappingSuggestionMap = mappingSuggestionsService.retrieveMappingSuggestionsForEntities(Arrays.asList(new String[]{entity.getId()})); + assertEquals(1, mappingSuggestionMap.size()); + List mappingSuggestions = mappingSuggestionMap.get(entity.getId()); + assertEquals(2, mappingSuggestions.size()); + + for (MappingSuggestion mappingSuggestion : mappingSuggestions) { + assertTrue(ontoMap.containsKey(mappingSuggestion.getOntologyTermId())); + } + + Map> mappingMap = mappingService.retrieveMappingsForEntities(Arrays.asList(new String[]{entity.getId()})); + assertEquals(1, mappingMap.size()); + List mappings = mappingMap.get(entity.getId()); + assertEquals(1, mappings.size()); + + for (Mapping mapping : mappings) { + assertTrue(ontoMap.containsKey(mapping.getOntologyTermId())); + assertEquals(MappingStatus.AWAITING_REVIEW.name(), mapping.getStatus()); + } + } +} diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OLSServiceTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OLSServiceTest.java index a5dd904..3021ca3 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OLSServiceTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OLSServiceTest.java @@ -24,7 +24,7 @@ public void shouldRetrieveTerms() { assertEquals(1, terms.size()); assertEquals(termId, terms.get(0).getIri()); assertEquals("Achondroplasia", terms.get(0).getLabel()); - assertEquals("Orphanet:15", terms.get(0).getOboId()); + assertEquals("Orphanet:15", terms.get(0).getCurie()); assertFalse(terms.get(0).getObsolete()); } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java index f2b2a3e..d442924 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java @@ -22,7 +22,7 @@ public class ProjectsControllerTest extends IntegrationTest { */ @Test public void shouldCreateProject() throws Exception { - super.createProject("New Project", "token1"); + super.createProject("New Project", "token1", null, null, null); } /** @@ -30,8 +30,8 @@ public void shouldCreateProject() throws Exception { */ @Test public void shouldGetProjects() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1"); - super.createProject("New Project 2", "token2"); + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null); + super.createProject("New Project 2", "token2", null, null, null); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS; String response = mockMvc.perform(get(endpoint) @@ -56,7 +56,7 @@ public void shouldGetProjects() throws Exception { */ @Test public void shouldGetProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1"); + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); String response = mockMvc.perform(get(endpoint) .contentType(MediaType.APPLICATION_JSON) @@ -77,7 +77,7 @@ public void shouldGetProject() throws Exception { */ @Test public void shouldUpdateProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1"); + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null); ProjectDto updatedProject = new ProjectDto(projectDto.getId(), "New Name", projectDto.getDescription(), @@ -109,7 +109,7 @@ public void shouldUpdateProject() throws Exception { */ @Test public void shouldNotUpdateProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1"); + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null); ProjectDto updatedProject = new ProjectDto(projectDto.getId(), "New Name", projectDto.getDescription(), @@ -131,7 +131,7 @@ public void shouldNotUpdateProject() throws Exception { */ @Test public void shouldDeleteProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1"); + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); mockMvc.perform(delete(endpoint) .header(IDPConstants.JWT_TOKEN, "token1")) diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/SourcesControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/SourcesControllerTest.java index e87a685..5823417 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/SourcesControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/SourcesControllerTest.java @@ -5,9 +5,7 @@ import org.springframework.http.MediaType; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; -import uk.ac.ebi.spot.ontotools.curation.constants.SourceType; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceCreationDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; @@ -15,7 +13,6 @@ import static org.junit.Assert.assertEquals; import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.get; -import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.post; import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; public class SourcesControllerTest extends IntegrationTest { @@ -25,7 +22,7 @@ public class SourcesControllerTest extends IntegrationTest { @Override public void setup() throws Exception { super.setup(); - projectDto = createProject("New Project", "token1"); + projectDto = createProject("New Project", "token1", null, null, null); } /** @@ -33,7 +30,7 @@ public void setup() throws Exception { */ @Test public void shouldCreateSource() throws Exception { - createSource(); + createSource(projectDto.getId()); } /** @@ -41,7 +38,7 @@ public void shouldCreateSource() throws Exception { */ @Test public void shouldGetSources() throws Exception { - SourceDto sourceDto = createSource(); + SourceDto sourceDto = super.createSource(projectDto.getId()); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_SOURCES; String response = mockMvc.perform(get(endpoint) .contentType(MediaType.APPLICATION_JSON) @@ -65,7 +62,7 @@ public void shouldGetSources() throws Exception { */ @Test public void shouldGetSource() throws Exception { - SourceDto sourceDto = createSource(); + SourceDto sourceDto = super.createSource(projectDto.getId()); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_SOURCES + "/" + sourceDto.getId(); String response = mockMvc.perform(get(endpoint) .contentType(MediaType.APPLICATION_JSON) @@ -80,28 +77,4 @@ public void shouldGetSource() throws Exception { assertEquals(sourceDto.getName(), actual.getName()); assertEquals(sourceDto.getDescription(), actual.getDescription()); } - - private SourceDto createSource() throws Exception { - SourceCreationDto sourceCreationDto = new SourceCreationDto("Source name", - "Description", - null, - SourceType.LOCAL.name()); - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_SOURCES; - - String response = mockMvc.perform(post(endpoint) - .contentType(MediaType.APPLICATION_JSON) - .content(mapper.writeValueAsString(sourceCreationDto)) - .header(IDPConstants.JWT_TOKEN, "token1")) - .andExpect(status().isCreated()) - .andReturn() - .getResponse() - .getContentAsString(); - - SourceDto actual = mapper.readValue(response, new TypeReference() { - }); - assertEquals(sourceCreationDto.getName(), actual.getName()); - assertEquals(sourceCreationDto.getDescription(), actual.getDescription()); - assertEquals(sourceCreationDto.getType(), actual.getType()); - return actual; - } } From d67c34599995677f86f113d9709b0c8dcf7e04b0 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Wed, 10 Feb 2021 21:30:16 +0800 Subject: [PATCH 08/72] Updated base docker image. Updated default install data. --- Dockerfile | 5 ++++- install.txt | 18 ++++++++++++++++-- scripts/deploy.sh | 2 +- 3 files changed, 21 insertions(+), 4 deletions(-) diff --git a/Dockerfile b/Dockerfile index 9151247..3cf7f91 100644 --- a/Dockerfile +++ b/Dockerfile @@ -1,5 +1,8 @@ # Import base image -FROM openjdk:15.0.2 +FROM openjdk:15-buster + +RUN apt-get update +RUN apt-get install -y --no-install-recommends less # Create log file directory and set permission RUN groupadd -r ontotools-curation-service && useradd -r --create-home -g ontotools-curation-service ontotools-curation-service diff --git a/install.txt b/install.txt index c2b14b1..b1ab33b 100644 --- a/install.txt +++ b/install.txt @@ -2,5 +2,19 @@ Data to be created during the initial setup. External service configs ------------------------ -db.externalServiceConfigs.insert({"name": "OXO", "aliases" : ["ordo::Orphanet"]}) -db.externalServiceConfigs.insert({"name": "OLS", "aliases" : ["Orphanet::ordo"]}) +db.externalServiceConfigs.insert({"name": "OXO", "aliases" : ["ordo::orphanet"]}) +db.externalServiceConfigs.insert({"name": "OLS", "aliases" : ["orphanet::ordo"]}) + +Users +----- +db.users.insert({"name": "Robot User", "email": "ontotools-curator@ebi.ac.uk", "roles": [], "superUser": true}) +db.users.insert({"name": "James", "email": "james@ebi.ac.uk", "roles": [], "superUser": false}) +db.users.insert({"name": "Tudor", "email": "tudor@ebi.ac.uk", "roles": [], "superUser": false}) +db.users.insert({"name": "Henriette", "email": "henriette@ebi.ac.uk", "roles": [], "superUser": false}) + +Tokens +----- +db.tokens.insert({"token": "tudor", "email":"tudor@ebi.ac.uk"}) +db.tokens.insert({"token": "james", "email":"james@ebi.ac.uk"}) +db.tokens.insert({"token": "henriette", "email":"henriette@ebi.ac.uk"}) +db.tokens.insert({"token": "robot", "email":"ontotools-curator@ebi.ac.uk"}) diff --git a/scripts/deploy.sh b/scripts/deploy.sh index cc5e98d..f277459 100755 --- a/scripts/deploy.sh +++ b/scripts/deploy.sh @@ -1,4 +1,4 @@ #!/bin/bash -kubectl delete deploy ontotools-curation-service -n gwas +kubectl delete deploy ontotools-curation-service -n ontotools kubectl apply -f config/ontotools-curation-service-deployment.yaml From 49027458b8a08e0d905afe42bb9b61e7cee0bae5 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Thu, 11 Feb 2021 16:36:23 +0800 Subject: [PATCH 09/72] Refactored code. Added endpoints for creating manual mappings and ontology terms. --- .../curation/constants/CurationConstants.java | 7 + .../repository/MappingRepository.java | 2 + .../MappingSuggestionRepository.java | 2 +- .../rest/assembler/EntityDtoAssembler.java | 4 +- .../rest/assembler/MappingDtoAssembler.java | 3 +- .../MappingSuggestionDtoAssembler.java | 2 +- .../assembler/OntologyTermDtoAssembler.java | 15 +- .../rest/assembler/ReviewDtoAssembler.java | 2 +- .../rest/controller/MappingsController.java | 129 ++++++++++++--- .../controller/OntologyTermController.java | 48 ++++++ .../curation/rest/dto/EntityDto.java | 2 + .../ontotools/curation/rest/dto/TraitDto.java | 1 + .../rest/dto/mapping/MappingCreationDto.java | 39 +++++ .../rest/dto/{ => mapping}/MappingDto.java | 4 +- .../{ => mapping}/MappingSuggestionDto.java | 3 +- .../dto/{ => mapping}/OntologyTermDto.java | 11 +- .../rest/dto/{ => mapping}/ReviewDto.java | 3 +- .../curation/service/MappingService.java | 4 + .../service/MappingSuggestionsService.java | 4 + .../curation/service/OntologyTermService.java | 6 + .../service/impl/EntityServiceImpl.java | 2 +- .../service/impl/MappingServiceImpl.java | 33 ++++ .../impl/MappingSuggestionsServiceImpl.java | 30 ++++ .../curation/service/impl/OLSServiceImpl.java | 2 + .../service/impl/OntologyTermServiceImpl.java | 37 +++++ .../curation/EntityControllerTest.java | 1 + .../curation/MappingsControllerTest.java | 152 ++++++++++++++++++ .../curation/OntologyTermControllerTest.java | 74 +++++++++ 28 files changed, 585 insertions(+), 37 deletions(-) create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/OntologyTermController.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingCreationDto.java rename src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/{ => mapping}/MappingDto.java (94%) rename src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/{ => mapping}/MappingSuggestionDto.java (92%) rename src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/{ => mapping}/OntologyTermDto.java (92%) rename src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/{ => mapping}/ReviewDto.java (88%) create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/OntologyTermControllerTest.java diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java index 6169793..9b105fc 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java @@ -12,7 +12,14 @@ public class CurationConstants { public static final String API_ENTITIES = "/entities"; + public static final String API_ONTOLOGY_TERMS = "/ontology-terms"; + + public static final String API_COMMENTS = "/comments"; + + public static final String PARAM_ENTITY_ID = "entityId"; + public static final String ZOOMA_CONFIDENCE_HIGH = "HIGH"; public static final int NO_REVIEWS_REQUIRED = 3; + } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java index ad71f78..9d8a249 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java @@ -10,4 +10,6 @@ public interface MappingRepository extends MongoRepository { Optional findByEntityIdAndOntologyTermId(String entityId, String ontologyTermId); List findByEntityIdIn(List entityIds); + + List findByEntityId(String entityId); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingSuggestionRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingSuggestionRepository.java index 2db7c54..71faa58 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingSuggestionRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingSuggestionRepository.java @@ -14,5 +14,5 @@ public interface MappingSuggestionRepository extends MongoRepository findByEntityIdAndOntologyTermIdNotIn(String entityId, List ontologyTermIds); - List findByOntologyTermId(String ontologyTermId); + List findByEntityId(String entityId); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java index 1228d98..833e714 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java @@ -4,8 +4,8 @@ import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; import uk.ac.ebi.spot.ontotools.curation.domain.MappingSuggestion; import uk.ac.ebi.spot.ontotools.curation.rest.dto.EntityDto; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.MappingDto; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.MappingSuggestionDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingSuggestionDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; import java.util.List; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java index 11070db..10ca396 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java @@ -1,7 +1,7 @@ package uk.ac.ebi.spot.ontotools.curation.rest.assembler; import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.MappingDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingDto; import java.util.ArrayList; import java.util.stream.Collectors; @@ -17,5 +17,4 @@ public static MappingDto assemble(Mapping mapping) { mapping.getReviews() != null ? mapping.getReviews().stream().map(ReviewDtoAssembler::assemble).collect(Collectors.toList()) : new ArrayList<>(), ProvenanceDtoAssembler.assemble(mapping.getCreated())); } - } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingSuggestionDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingSuggestionDtoAssembler.java index 426bd0e..63cfc41 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingSuggestionDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingSuggestionDtoAssembler.java @@ -1,7 +1,7 @@ package uk.ac.ebi.spot.ontotools.curation.rest.assembler; import uk.ac.ebi.spot.ontotools.curation.domain.MappingSuggestion; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.MappingSuggestionDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingSuggestionDto; public class MappingSuggestionDtoAssembler { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/OntologyTermDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/OntologyTermDtoAssembler.java index 64f5b72..783afea 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/OntologyTermDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/OntologyTermDtoAssembler.java @@ -1,7 +1,9 @@ package uk.ac.ebi.spot.ontotools.curation.rest.assembler; +import org.apache.commons.codec.digest.DigestUtils; +import uk.ac.ebi.spot.ontotools.curation.constants.TermStatus; import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.OntologyTermDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.OntologyTermDto; public class OntologyTermDtoAssembler { @@ -13,4 +15,15 @@ public static OntologyTermDto assemble(OntologyTerm ontologyTerm) { ontologyTerm.getDescription(), ontologyTerm.getCrossRefs()); } + + public static OntologyTerm disassemble(OntologyTermDto ontologyTerm) { + return new OntologyTerm(null, + ontologyTerm.getCurie(), + ontologyTerm.getIri(), + DigestUtils.sha256Hex(ontologyTerm.getIri()), + ontologyTerm.getLabel(), + ontologyTerm.getStatus() != null ? ontologyTerm.getStatus() : TermStatus.NEEDS_IMPORT.name(), + ontologyTerm.getDescription(), + ontologyTerm.getCrossRefs()); + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ReviewDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ReviewDtoAssembler.java index 765ebcc..d5893c2 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ReviewDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ReviewDtoAssembler.java @@ -1,7 +1,7 @@ package uk.ac.ebi.spot.ontotools.curation.rest.assembler; import uk.ac.ebi.spot.ontotools.curation.domain.Review; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.ReviewDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.ReviewDto; public class ReviewDtoAssembler { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java index 49325d4..d3522e6 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java @@ -1,16 +1,34 @@ package uk.ac.ebi.spot.ontotools.curation.rest.controller; +import org.joda.time.DateTime; import org.slf4j.Logger; import org.slf4j.LoggerFactory; import org.springframework.beans.factory.annotation.Autowired; -import org.springframework.web.bind.annotation.RequestMapping; -import org.springframework.web.bind.annotation.RestController; +import org.springframework.http.HttpStatus; +import org.springframework.http.MediaType; +import org.springframework.web.bind.annotation.*; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; +import uk.ac.ebi.spot.ontotools.curation.domain.*; +import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.rest.assembler.EntityDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.assembler.SourceDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.EntityDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingCreationDto; import uk.ac.ebi.spot.ontotools.curation.service.*; import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; +import uk.ac.ebi.spot.ontotools.curation.util.HeadersUtil; + +import javax.servlet.http.HttpServletRequest; +import javax.validation.Valid; +import java.util.HashMap; +import java.util.List; +import java.util.Map; @RestController -@RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_MAPPINGS) +@RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) public class MappingsController { private static final Logger log = LoggerFactory.getLogger(ProjectsController.class); @@ -21,36 +39,109 @@ public class MappingsController { @Autowired private ProjectService projectService; + @Autowired + private EntityService entityService; + @Autowired private MappingService mappingService; @Autowired - private MappingSuggestionsService mappingSuggestionsService; + private SourceService sourceService; @Autowired - private UserService userService; + private MappingSuggestionsService mappingSuggestionsService; + @Autowired + private OntologyTermService ontologyTermService; /** - * GET /v1/mappings?entityId= + * GET /v1/projects/{projectId}/mappings?entityId= */ + @GetMapping(value = "/{projectId}" + CurationConstants.API_MAPPINGS, + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.OK) + public EntityDto getMappings(@PathVariable String projectId, @RequestParam(value = CurationConstants.PARAM_ENTITY_ID) String entityId, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to retrieve mappings: {} | {}", user.getEmail(), projectId, entityId); + projectService.verifyAccess(projectId, user); + Entity entity = entityService.retrieveEntity(entityId); + return packAndSend(entity, projectId); + } /** - * POST /v1/mappings + * POST /v1/projects/{projectId}/mappings */ + @PostMapping(value = "/{projectId}" + CurationConstants.API_MAPPINGS, + consumes = MediaType.APPLICATION_JSON_VALUE, + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.CREATED) + public EntityDto createMapping(@PathVariable String projectId, @RequestBody @Valid MappingCreationDto mappingCreationDto, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to create mapping: {} | {} | {}", user.getEmail(), projectId, mappingCreationDto.getEntityId(), mappingCreationDto.getOntologyTerm().getCurie()); + projectService.verifyAccess(projectId, user); - /** - * PUT /v1/mappings/{mappingId} - * - sets mapping active - */ + Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); + Entity entity = entityService.retrieveEntity(mappingCreationDto.getEntityId()); + OntologyTerm ontologyTerm = ontologyTermService.retrieveTermByIri(mappingCreationDto.getOntologyTerm().getIri()); - /** - * DELETE /v1/mappings/{mappingId} - */ + /** + * Check if a mapping to this term already exists + */ + List existingMappings = mappingService.retrieveMappingsForEntity(entity.getId()); + boolean exists = false; + for (Mapping mapping : existingMappings) { + if (mapping.getOntologyTermId().equalsIgnoreCase(ontologyTerm.getId())) { + exists = true; + break; + } + } + if (exists) { + log.warn("[{}] Mapping to term [{}] already exists.", entity.getName(), ontologyTerm.getCurie()); + return packAndSend(entity, projectId); + } + + /** + * Create new mapping. + */ + mappingService.createMapping(entity, ontologyTerm, provenance); + + /** + * New mapping created - deleting existing mappings, except of the newly created one. + * Retaining ontology terms associated with the previous mappings. + */ + List ontologyTermIds = mappingService.deleteMappingExcluding(entity, ontologyTerm.getId()); + + /** + * Updating mapping status to MANUAL. + */ + entity = entityService.updateMappingStatus(entity, EntityStatus.MANUALLY_MAPPED); + + /** + * Deleting mapping suggestions associated with the current ontology term. + */ + mappingSuggestionsService.deleteMappingSuggestions(entity.getId(), ontologyTerm.getId()); + + /** + * Creating new mapping suggestion from the terms previously included in the mappings. + */ + for (String ontologyTermId : ontologyTermIds) { + OntologyTerm ontoTerm = ontologyTermService.retrieveTermById(ontologyTermId); + mappingSuggestionsService.createMappingSuggestion(entity, ontoTerm, provenance); + } + + return packAndSend(entity, projectId); + } + + private EntityDto packAndSend(Entity entity, String projectId) { + List sources = sourceService.getSources(projectId); + Map sourceMap = new HashMap<>(); + for (Source source : sources) { + sourceMap.put(source.getId(), SourceDtoAssembler.assemble(source)); + } + List mappings = mappingService.retrieveMappingsForEntity(entity.getId()); + List mappingSuggestions = mappingSuggestionsService.retrieveMappingSuggestionsForEntity(entity.getId()); + return EntityDtoAssembler.assemble(entity, sourceMap.get(entity.getSourceId()), mappings, mappingSuggestions); + + } - /** - * TODO: - * - Add comments - * - Add review - */ } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/OntologyTermController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/OntologyTermController.java new file mode 100644 index 0000000..bd46fec --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/OntologyTermController.java @@ -0,0 +1,48 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.controller; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.http.HttpStatus; +import org.springframework.http.MediaType; +import org.springframework.web.bind.annotation.*; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.rest.assembler.OntologyTermDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.OntologyTermDto; +import uk.ac.ebi.spot.ontotools.curation.service.JWTService; +import uk.ac.ebi.spot.ontotools.curation.service.OntologyTermService; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; +import uk.ac.ebi.spot.ontotools.curation.util.HeadersUtil; + +import javax.servlet.http.HttpServletRequest; +import javax.validation.Valid; + +@RestController +@RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) +public class OntologyTermController { + + private static final Logger log = LoggerFactory.getLogger(ProjectsController.class); + + @Autowired + private JWTService jwtService; + + @Autowired + private OntologyTermService ontologyTermService; + + /** + * POST /v1/projects/{projectId}/ontology-terms + */ + @PostMapping(value = "/{projectId}" + CurationConstants.API_ONTOLOGY_TERMS, + consumes = MediaType.APPLICATION_JSON_VALUE, + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.CREATED) + public OntologyTermDto createOntologyTerm(@PathVariable String projectId, @RequestBody @Valid OntologyTermDto ontologyTermDto, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to create ontology term: {} | {}", user.getEmail(), projectId, ontologyTermDto.getCurie()); + OntologyTerm created = ontologyTermService.createTerm(OntologyTermDtoAssembler.disassemble(ontologyTermDto)); + return OntologyTermDtoAssembler.assemble(created); + } + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java index 442735b..9c85d6b 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java @@ -4,6 +4,8 @@ import com.fasterxml.jackson.annotation.JsonInclude; import com.fasterxml.jackson.annotation.JsonProperty; import lombok.EqualsAndHashCode; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingSuggestionDto; import javax.validation.constraints.NotNull; import java.io.Serializable; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/TraitDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/TraitDto.java index fb55eef..233827f 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/TraitDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/TraitDto.java @@ -4,6 +4,7 @@ import com.fasterxml.jackson.annotation.JsonInclude; import com.fasterxml.jackson.annotation.JsonProperty; import lombok.EqualsAndHashCode; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingDto; import javax.validation.constraints.NotNull; import java.io.Serializable; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingCreationDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingCreationDto.java new file mode 100644 index 0000000..da93389 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingCreationDto.java @@ -0,0 +1,39 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import javax.validation.constraints.NotNull; +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class MappingCreationDto implements Serializable { + + private static final long serialVersionUID = -2530149590750902127L; + + @NotNull + @JsonProperty("entityId") + private final String entityId; + + @NotNull + @JsonProperty("ontologyTerm") + private final OntologyTermDto ontologyTerm; + + @JsonCreator + public MappingCreationDto(@JsonProperty("entityId") String entityId, + @JsonProperty("ontologyTerm") OntologyTermDto ontologyTerm) { + this.entityId = entityId; + this.ontologyTerm = ontologyTerm; + } + + public OntologyTermDto getOntologyTerm() { + return ontologyTerm; + } + + public String getEntityId() { + return entityId; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/MappingDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingDto.java similarity index 94% rename from src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/MappingDto.java rename to src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingDto.java index f17da9b..21b17c7 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/MappingDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingDto.java @@ -1,9 +1,10 @@ -package uk.ac.ebi.spot.ontotools.curation.rest.dto; +package uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping; import com.fasterxml.jackson.annotation.JsonCreator; import com.fasterxml.jackson.annotation.JsonInclude; import com.fasterxml.jackson.annotation.JsonProperty; import lombok.EqualsAndHashCode; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProvenanceDto; import javax.validation.constraints.NotNull; import java.io.Serializable; @@ -19,6 +20,7 @@ public final class MappingDto implements Serializable { @JsonProperty("id") private final String id; + @NotNull @JsonProperty("entityId") private final String entityId; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/MappingSuggestionDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingSuggestionDto.java similarity index 92% rename from src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/MappingSuggestionDto.java rename to src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingSuggestionDto.java index e0179a1..629aaee 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/MappingSuggestionDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingSuggestionDto.java @@ -1,9 +1,10 @@ -package uk.ac.ebi.spot.ontotools.curation.rest.dto; +package uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping; import com.fasterxml.jackson.annotation.JsonCreator; import com.fasterxml.jackson.annotation.JsonInclude; import com.fasterxml.jackson.annotation.JsonProperty; import lombok.EqualsAndHashCode; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProvenanceDto; import javax.validation.constraints.NotNull; import java.io.Serializable; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/OntologyTermDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/OntologyTermDto.java similarity index 92% rename from src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/OntologyTermDto.java rename to src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/OntologyTermDto.java index ba608cf..d1f25a0 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/OntologyTermDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/OntologyTermDto.java @@ -1,11 +1,11 @@ -package uk.ac.ebi.spot.ontotools.curation.rest.dto; +package uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping; import com.fasterxml.jackson.annotation.JsonCreator; import com.fasterxml.jackson.annotation.JsonInclude; import com.fasterxml.jackson.annotation.JsonProperty; import lombok.EqualsAndHashCode; -import javax.validation.constraints.NotNull; +import javax.validation.constraints.NotEmpty; import java.io.Serializable; @EqualsAndHashCode @@ -14,19 +14,18 @@ public final class OntologyTermDto implements Serializable { private static final long serialVersionUID = 714105630780606515L; - @NotNull + @NotEmpty @JsonProperty("curie") private final String curie; - @NotNull + @NotEmpty @JsonProperty("iri") private final String iri; - @NotNull + @NotEmpty @JsonProperty("label") private final String label; - @NotNull @JsonProperty("status") private final String status; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ReviewDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/ReviewDto.java similarity index 88% rename from src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ReviewDto.java rename to src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/ReviewDto.java index 7535d31..d9359b1 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ReviewDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/ReviewDto.java @@ -1,9 +1,10 @@ -package uk.ac.ebi.spot.ontotools.curation.rest.dto; +package uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping; import com.fasterxml.jackson.annotation.JsonCreator; import com.fasterxml.jackson.annotation.JsonInclude; import com.fasterxml.jackson.annotation.JsonProperty; import lombok.EqualsAndHashCode; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProvenanceDto; import javax.validation.constraints.NotNull; import java.io.Serializable; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java index 257effe..a1c7e20 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java @@ -13,4 +13,8 @@ public interface MappingService { Mapping createMapping(Entity entity, OntologyTerm ontologyTerm, Provenance provenance); Map> retrieveMappingsForEntities(List entityIds); + + List retrieveMappingsForEntity(String entityId); + + List deleteMappingExcluding(Entity entity, String ontologyTermId); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingSuggestionsService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingSuggestionsService.java index 16ab4f8..23253fb 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingSuggestionsService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingSuggestionsService.java @@ -15,4 +15,8 @@ public interface MappingSuggestionsService { void deleteMappingSuggestionsExcluding(Entity entity, List ontologyTerms); Map> retrieveMappingSuggestionsForEntities(List entityIds); + + List retrieveMappingSuggestionsForEntity(String entityId); + + void deleteMappingSuggestions(String entityId, String ontologyTermId); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java index e3fe5d6..051cce6 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java @@ -7,9 +7,15 @@ import java.util.Map; public interface OntologyTermService { + OntologyTerm createTerm(OntologyTerm term); + OntologyTerm createTerm(String iri, Project project); Map retrieveTerms(List ontologyTermIds); List retrieveAllTerms(); + + OntologyTerm retrieveTermByIri(String iri); + + OntologyTerm retrieveTermById(String ontologyTermId); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java index 0bf44e7..eeebfda 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java @@ -41,7 +41,7 @@ public Stream retrieveEntitiesForSource(String sourceId) { @Override public Entity updateMappingStatus(Entity entity, EntityStatus mappingStatus) { - log.info("Updating mappping status [{}]: {}", entity.getName(), mappingStatus); + log.info("Updating mapping status [{}]: {}", entity.getName(), mappingStatus); Optional entityOptional = entityRepository.findById(entity.getId()); if (!entityOptional.isPresent()) { log.error("Unable to find entity: {}", entity.getName()); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java index 62e69d0..c75a837 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java @@ -61,4 +61,37 @@ public Map> retrieveMappingsForEntities(List entit } return result; } + + @Override + public List retrieveMappingsForEntity(String entityId) { + log.info("Retrieving mappings for entity: {}", entityId); + List mappings = mappingRepository.findByEntityId(entityId); + List ontologyTermIds = mappings.stream().map(Mapping::getOntologyTermId).collect(Collectors.toList()); + Map ontologyTermMap = ontologyTermService.retrieveTerms(ontologyTermIds); + log.info("Found {} mappings.", mappings.size()); + List result = new ArrayList<>(); + for (Mapping mapping : mappings) { + if (!ontologyTermMap.containsKey(mapping.getOntologyTermId())) { + log.warn("Unable to find ontology term [{}] for mapping suggestion: {}", mapping.getOntologyTermId(), mapping.getId()); + continue; + } + mapping.setOntologyTerm(ontologyTermMap.get(mapping.getOntologyTermId())); + result.add(mapping); + } + return result; + } + + @Override + public List deleteMappingExcluding(Entity entity, String ontologyTermId) { + log.info("Deleting mappings for entity [{}] excluding ontology term: {}", entity.getId(), ontologyTermId); + List mappings = mappingRepository.findByEntityId(entity.getId()); + List result = new ArrayList<>(); + for (Mapping mapping : mappings) { + if (!mapping.getOntologyTermId().equalsIgnoreCase(ontologyTermId)) { + result.add(mapping.getOntologyTermId()); + mappingRepository.delete(mapping); + } + } + return result; + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java index 3378b00..664f7b7 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java @@ -71,4 +71,34 @@ public Map> retrieveMappingSuggestionsForEntitie } return result; } + + @Override + public List retrieveMappingSuggestionsForEntity(String entityId) { + log.info("Retrieving mapping suggestions for entity: {}", entityId); + List mappingSuggestions = mappingSuggestionRepository.findByEntityId(entityId); + List ontologyTermIds = mappingSuggestions.stream().map(MappingSuggestion::getOntologyTermId).collect(Collectors.toList()); + Map ontologyTermMap = ontologyTermService.retrieveTerms(ontologyTermIds); + log.info("Found {} mapping suggestions.", mappingSuggestions.size()); + List result = new ArrayList<>(); + for (MappingSuggestion mappingSuggestion : mappingSuggestions) { + if (!ontologyTermMap.containsKey(mappingSuggestion.getOntologyTermId())) { + log.warn("Unable to find ontology term [{}] for mapping suggestion: {}", mappingSuggestion.getOntologyTermId(), mappingSuggestion.getId()); + continue; + } + mappingSuggestion.setOntologyTerm(ontologyTermMap.get(mappingSuggestion.getOntologyTermId())); + result.add(mappingSuggestion); + } + return result; + } + + @Override + public void deleteMappingSuggestions(String entityId, String ontologyTermId) { + log.info("Deleting mapping suggestions for entity [{}] with ontology term: {}", entityId, ontologyTermId); + List mappingSuggestions = mappingSuggestionRepository.findByEntityId(entityId); + for (MappingSuggestion mappingSuggestion : mappingSuggestions) { + if (!mappingSuggestion.getOntologyTermId().equalsIgnoreCase(ontologyTermId)) { + mappingSuggestionRepository.delete(mappingSuggestion); + } + } + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OLSServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OLSServiceImpl.java index eaa8797..679236e 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OLSServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OLSServiceImpl.java @@ -99,6 +99,8 @@ public List retrieveTerms(String ontologyId, String identifierValue) * and repeat the process associated with checking the status - as per the initial term creation *

* Why?? + * + * Do we have to introduce project-based terms? If not - how do we use project preferences to do this import? */ public void importOLS() { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java index 5142c1c..b822584 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java @@ -9,6 +9,7 @@ import uk.ac.ebi.spot.ontotools.curation.constants.TermStatus; import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.exception.EntityNotFoundException; import uk.ac.ebi.spot.ontotools.curation.repository.OntologyTermRepository; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSTermDto; import uk.ac.ebi.spot.ontotools.curation.service.OLSService; @@ -28,6 +29,20 @@ public class OntologyTermServiceImpl implements OntologyTermService { @Autowired private OLSService olsService; + @Override + public OntologyTerm createTerm(OntologyTerm term) { + log.info("Creating term manually: {}", term.getCurie()); + Optional ontologyTermOp = ontologyTermRepository.findByIriHash(DigestUtils.sha256Hex(term.getIri())); + if (ontologyTermOp.isPresent()) { + log.warn("Ontology term already exists: {} | {}", ontologyTermOp.get().getCurie(), ontologyTermOp.get().getLabel()); + return ontologyTermOp.get(); + } + + OntologyTerm ontologyTerm = ontologyTermRepository.insert(term); + log.info("Term [{}] created: {}", ontologyTerm.getCurie(), ontologyTerm.getId()); + return ontologyTerm; + } + @Override public OntologyTerm createTerm(String iri, Project project) { log.info("Creating term: {}", iri); @@ -91,6 +106,28 @@ public List retrieveAllTerms() { return ontologyTermRepository.findAll(); } + @Override + public OntologyTerm retrieveTermByIri(String iri) { + log.info("Retrieving ontology term: {}", iri); + Optional ontologyTermOp = ontologyTermRepository.findByIriHash(DigestUtils.sha256Hex(iri)); + if (!ontologyTermOp.isPresent()) { + log.error("Unable to find ontology term: {}", iri); + throw new EntityNotFoundException("Unable to find ontology term: " + iri); + } + return ontologyTermOp.get(); + } + + @Override + public OntologyTerm retrieveTermById(String ontologyTermId) { + log.info("Retrieving ontology term: {}", ontologyTermId); + Optional ontologyTermOp = ontologyTermRepository.findById(ontologyTermId); + if (!ontologyTermOp.isPresent()) { + log.error("Unable to find ontology term: {}", ontologyTermId); + throw new EntityNotFoundException("Unable to find ontology term: " + ontologyTermId); + } + return ontologyTermOp.get(); + } + private String parseStatus(List preferredOntoResponse, List parentOntoResponse, String previousState) { if (CollectionUtils.isEmpty(preferredOntoResponse) && CollectionUtils.isEmpty(parentOntoResponse)) { return TermStatus.DELETED.name(); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java index aac2ee6..7f57e9e 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java @@ -11,6 +11,7 @@ import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; import uk.ac.ebi.spot.ontotools.curation.rest.dto.*; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingSuggestionDto; import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; import uk.ac.ebi.spot.ontotools.curation.service.UserService; import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java new file mode 100644 index 0000000..9933474 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java @@ -0,0 +1,152 @@ +package uk.ac.ebi.spot.ontotools.curation; + +import com.fasterxml.jackson.core.type.TypeReference; +import org.junit.Test; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.http.MediaType; +import org.springframework.test.context.ContextConfiguration; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; +import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.EntityDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingCreationDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingSuggestionDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.OntologyTermDto; +import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; +import uk.ac.ebi.spot.ontotools.curation.service.UserService; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; + +import java.util.Arrays; +import java.util.List; + +import static org.junit.Assert.assertEquals; +import static org.junit.Assert.assertNotNull; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.get; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.post; +import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; + +@ContextConfiguration(classes = {IntegrationTest.MockTaskExecutorConfig.class}) +public class MappingsControllerTest extends IntegrationTest { + + @Autowired + private UserService userService; + + @Autowired + private ProjectService projectService; + + private Project project; + + private SourceDto sourceDto; + + @Override + public void setup() throws Exception { + super.setup(); + List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); + List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); + ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo"); + user1 = userService.findByEmail(user1.getEmail()); + project = projectService.retrieveProject(projectDto.getId(), user1); + sourceDto = super.createSource(project.getId()); + + super.createEntityTestData(sourceDto.getId(), user1); + } + + /** + * GET /v1/projects/{projectId}/mappings?entityId= + */ + @Test + public void shouldGetMappings() throws Exception { + EntityDto actual = retrieveEntity(); + assertEquals("Achondroplasia", actual.getName()); + assertEquals(EntityStatus.AUTO_MAPPED.name(), actual.getMappingStatus()); + + assertEquals(1, actual.getMappings().size()); + assertEquals("Orphanet:15", actual.getMappings().get(0).getOntologyTerm().getCurie()); + assertEquals(MappingStatus.AWAITING_REVIEW.name(), actual.getMappings().get(0).getStatus()); + + assertEquals(2, actual.getMappingSuggestions().size()); + int foundCuries = 0; + for (MappingSuggestionDto mappingSuggestion : actual.getMappingSuggestions()) { + if (mappingSuggestion.getOntologyTerm().getCurie().equalsIgnoreCase("Orphanet:15")) { + foundCuries++; + } + if (mappingSuggestion.getOntologyTerm().getCurie().equalsIgnoreCase("MONDO:0007037")) { + foundCuries++; + } + } + + assertEquals(2, foundCuries); + assertEquals(sourceDto.getId(), actual.getSource().getId()); + } + + /** + * POST /v1/projects/{projectId}/mappings + */ + @Test + public void shouldCreateMapping() throws Exception { + EntityDto entityDto = retrieveEntity(); + OntologyTermDto ontologyTermDto = null; + for (MappingSuggestionDto mappingSuggestionDto : entityDto.getMappingSuggestions()) { + if (mappingSuggestionDto.getOntologyTerm().getCurie().equalsIgnoreCase("MONDO:0007037")) { + ontologyTermDto = mappingSuggestionDto.getOntologyTerm(); + break; + } + } + assertNotNull(ontologyTermDto); + MappingCreationDto mappingCreationDto = new MappingCreationDto(entityDto.getId(), ontologyTermDto); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS; + String response = mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(mappingCreationDto)) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isCreated()) + .andReturn() + .getResponse() + .getContentAsString(); + + EntityDto actual = mapper.readValue(response, new TypeReference() { + }); + + assertEquals("Achondroplasia", actual.getName()); + assertEquals(EntityStatus.MANUALLY_MAPPED.name(), actual.getMappingStatus()); + + assertEquals(1, actual.getMappings().size()); + assertEquals("MONDO:0007037", actual.getMappings().get(0).getOntologyTerm().getCurie()); + assertEquals(MappingStatus.AWAITING_REVIEW.name(), actual.getMappings().get(0).getStatus()); + + assertEquals(2, actual.getMappingSuggestions().size()); + int foundCuries = 0; + for (MappingSuggestionDto mappingSuggestion : actual.getMappingSuggestions()) { + if (mappingSuggestion.getOntologyTerm().getCurie().equalsIgnoreCase("Orphanet:15")) { + foundCuries++; + } + if (mappingSuggestion.getOntologyTerm().getCurie().equalsIgnoreCase("MONDO:0007037")) { + foundCuries++; + } + } + + assertEquals(2, foundCuries); + assertEquals(sourceDto.getId(), actual.getSource().getId()); + } + + private EntityDto retrieveEntity() throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + + "?entityId=" + super.entity.getId(); + String response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + EntityDto actual = mapper.readValue(response, new TypeReference() { + }); + return actual; + } +} diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntologyTermControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntologyTermControllerTest.java new file mode 100644 index 0000000..2983be9 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntologyTermControllerTest.java @@ -0,0 +1,74 @@ +package uk.ac.ebi.spot.ontotools.curation; + +import com.fasterxml.jackson.core.type.TypeReference; +import org.junit.Test; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.http.MediaType; +import org.springframework.test.context.ContextConfiguration; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.TermStatus; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.OntologyTermDto; +import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; +import uk.ac.ebi.spot.ontotools.curation.service.UserService; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; + +import java.util.Arrays; +import java.util.List; + +import static org.junit.Assert.assertEquals; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.post; +import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; + +@ContextConfiguration(classes = {IntegrationTest.MockTaskExecutorConfig.class}) +public class OntologyTermControllerTest extends IntegrationTest { + + @Autowired + private UserService userService; + + @Autowired + private ProjectService projectService; + + private Project project; + + @Override + public void setup() throws Exception { + super.setup(); + + List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); + List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); + ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo"); + user1 = userService.findByEmail(user1.getEmail()); + project = projectService.retrieveProject(projectDto.getId(), user1); + } + + /** + * POST /v1/projects/{projectId}/ontology-terms + */ + @Test + public void shouldCreateOntologyTerm() throws Exception { + OntologyTermDto toCreate = new OntologyTermDto("MONDO:0007037", "http://purl.obolibrary.org/obo/MONDO_0007037", + "Achondroplasia", null, null, null); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_ONTOLOGY_TERMS; + String response = mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(toCreate)) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isCreated()) + .andReturn() + .getResponse() + .getContentAsString(); + + OntologyTermDto actual = mapper.readValue(response, new TypeReference() { + }); + + assertEquals(toCreate.getLabel(), actual.getLabel()); + assertEquals(toCreate.getCurie(), actual.getCurie()); + assertEquals(toCreate.getIri(), actual.getIri()); + assertEquals(TermStatus.NEEDS_IMPORT.toString(), actual.getStatus()); + + } +} From 7b435ecd12fa44cbb65314aee613cc5dc5921020 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Thu, 11 Feb 2021 21:52:28 +0800 Subject: [PATCH 10/72] Fixed trigger for matchmaking service. --- .../curation/rest/controller/SourcesController.java | 13 +++++++------ 1 file changed, 7 insertions(+), 6 deletions(-) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java index 9471aa2..e6830b9 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java @@ -16,10 +16,7 @@ import uk.ac.ebi.spot.ontotools.curation.rest.assembler.SourceDtoAssembler; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceCreationDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; -import uk.ac.ebi.spot.ontotools.curation.service.EntityService; -import uk.ac.ebi.spot.ontotools.curation.service.JWTService; -import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; -import uk.ac.ebi.spot.ontotools.curation.service.SourceService; +import uk.ac.ebi.spot.ontotools.curation.service.*; import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; import uk.ac.ebi.spot.ontotools.curation.util.HeadersUtil; @@ -46,6 +43,9 @@ public class SourcesController { @Autowired private EntityService entityService; + @Autowired + private MatchmakerService matchmakerService; + /** * POST /v1/projects/{projectId}/sources */ @@ -93,9 +93,9 @@ public SourceDto getSource(@PathVariable String projectId, @PathVariable String /** * POST /v1/projects/{projectId}/sources/{sourceId} */ - @PutMapping(value = "/{projectId}" + CurationConstants.API_SOURCES + "/{sourceId}", + @PostMapping(value = "/{projectId}" + CurationConstants.API_SOURCES + "/{sourceId}", produces = MediaType.APPLICATION_JSON_VALUE) - @ResponseStatus(HttpStatus.OK) + @ResponseStatus(HttpStatus.CREATED) public void addDataToSource(@RequestBody List entities, @PathVariable String projectId, @PathVariable String sourceId, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to add data to source: {} | {} | {}", user.getEmail(), projectId, sourceId, entities); @@ -104,5 +104,6 @@ public void addDataToSource(@RequestBody List entities, @PathVariable St for (String entity : entities) { entityService.createEntity(new Entity(null, entity, source.getId(), new Provenance(user.getName(), user.getEmail(), DateTime.now()), EntityStatus.UNMAPPED)); } + matchmakerService.runMatchmaking(sourceId, projectService.retrieveProject(projectId, user)); } } From 43377e59c1150573cb58e04d48bc6378de660a58 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Thu, 11 Feb 2021 22:41:08 +0800 Subject: [PATCH 11/72] Added coverage checks and more DTO tests. --- pom.xml | 111 ++++++++++++++++++ .../rest/assembler/SourceDtoAssembler.java | 13 -- .../rest/assembler/UserDtoAssembler.java | 10 -- .../ontotools/curation/rest/dto/TraitDto.java | 78 ------------ .../curation/rest/dto/EntityDtoTest.java | 14 +++ .../rest/dto/ProjectCreationDtoTest.java | 14 +++ .../curation/rest/dto/ProjectDtoTest.java | 14 +++ .../curation/rest/dto/ProvenanceDtoTest.java | 14 +++ .../curation/rest/dto/RoleDtoTest.java | 14 +++ .../rest/dto/SourceCreationDtoTest.java | 14 +++ .../curation/rest/dto/SourceDtoTest.java | 13 ++ .../curation/rest/dto/UserDtoTest.java | 12 ++ .../config/ExternalServiceConfigDtoTest.java | 14 +++ .../dto/mapping/MappingCreationDtoTest.java | 14 +++ .../rest/dto/mapping/MappingDtoTest.java | 14 +++ .../dto/mapping/MappingSuggestionDtoTest.java | 14 +++ .../rest/dto/mapping/OntologyTermDtoTest.java | 14 +++ .../rest/dto/mapping/ReviewDtoTest.java | 14 +++ .../rest/dto/ols/OLSEmbeddedDtoTest.java | 13 ++ .../rest/dto/ols/OLSResponseDtoTest.java | 14 +++ .../curation/rest/dto/ols/OLSTermDtoTest.java | 15 +++ .../rest/dto/oxo/OXOEmbeddedDtoTest.java | 14 +++ .../dto/oxo/OXOMappingResponseDtoTest.java | 14 +++ .../rest/dto/oxo/OXORequestDtoTest.java | 14 +++ .../rest/dto/oxo/OXOResponseDtoTest.java | 14 +++ .../rest/dto/oxo/OXOSearchResultDtoTest.java | 14 +++ .../rest/dto/zooma/ZoomaResponseDtoTest.java | 14 +++ 27 files changed, 430 insertions(+), 101 deletions(-) delete mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/TraitDto.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectCreationDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProvenanceDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/RoleDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/SourceCreationDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/SourceDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/UserDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/config/ExternalServiceConfigDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingCreationDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingSuggestionDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/OntologyTermDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/ReviewDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSEmbeddedDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSResponseDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSTermDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOEmbeddedDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOMappingResponseDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXORequestDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOResponseDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOSearchResultDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/zooma/ZoomaResponseDtoTest.java diff --git a/pom.xml b/pom.xml index bce90dc..6bc957b 100644 --- a/pom.xml +++ b/pom.xml @@ -41,6 +41,16 @@ 4.13.1 3.7.7 3.5.2 + + 0.8.6 + false + + 0.7000 + 0.7000 + 0.7500 + 0.7000 + 0.7000 + 0.9000 @@ -55,6 +65,107 @@ org.springframework.boot spring-boot-maven-plugin + + org.jacoco + jacoco-maven-plugin + ${jacoco.plugin.version} + + ${project.build.directory}/coverage-reports/jacoco.exec + ${project.build.directory}/coverage-reports/ + true + + **/*Config.* + **/*ConfigProd.* + **/*Application.* + **/*ConfigDev.* + **/*ConfigNonDev.* + **/*Constants.* + **/*Properties.* + **/*Exception.* + **/*Serializer.* + **/*Deserializer.* + **/constants/**/* + **/constants/*.* + **/*Advice.* + + + + + prepare-agent + + prepare-agent + + + ${skip.coverage} + + + + + ${project.build.directory}/coverage-reports/jacoco.exec + + + + report + + integration-test + + report + + + ${skip.coverage} + + + + check + + integration-test + + check + + + ${skip.coverage} + + + BUNDLE + + + INSTRUCTION + COVEREDRATIO + ${coverage.ratio.instruction} + + + LINE + COVEREDRATIO + ${coverage.ratio.line} + + + BRANCH + COVEREDRATIO + ${coverage.ratio.branch} + + + METHOD + COVEREDRATIO + ${coverage.ratio.method} + + + CLASS + COVEREDRATIO + ${coverage.ratio.class} + + + COMPLEXITY + COVEREDRATIO + ${coverage.ratio.complexity} + + + + + + + + + diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/SourceDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/SourceDtoAssembler.java index f318029..62c03ba 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/SourceDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/SourceDtoAssembler.java @@ -17,19 +17,6 @@ public static SourceDto assemble(Source source) { ProvenanceDtoAssembler.assemble(source.getLastUpdated())); } - public static Source disassemble(SourceDto source) { - return new Source(source.getId(), - source.getName(), - source.getDescription(), - source.getUri(), - source.getType(), - ProvenanceDtoAssembler.disassemble(source.getCreated()), - ProvenanceDtoAssembler.disassemble(source.getLastUpdated()), - null, - null, - false); - } - public static Source disassemble(SourceCreationDto source, Provenance provenance) { return new Source(null, source.getName(), diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/UserDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/UserDtoAssembler.java index 95196c2..a75e012 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/UserDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/UserDtoAssembler.java @@ -1,19 +1,9 @@ package uk.ac.ebi.spot.ontotools.curation.rest.assembler; -import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.rest.dto.UserDto; -import java.util.stream.Collectors; - public class UserDtoAssembler { - public static UserDto assemble(User user) { - return new UserDto(user.getId(), - user.getName(), - user.getEmail(), - user.getRoles() != null ? user.getRoles().stream().map(RoleDtoAssembler::assemble).collect(Collectors.toList()) : null); - } - public static UserDto assemble(String name, String email) { return new UserDto(null, name, email, null); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/TraitDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/TraitDto.java deleted file mode 100644 index 233827f..0000000 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/TraitDto.java +++ /dev/null @@ -1,78 +0,0 @@ -package uk.ac.ebi.spot.ontotools.curation.rest.dto; - -import com.fasterxml.jackson.annotation.JsonCreator; -import com.fasterxml.jackson.annotation.JsonInclude; -import com.fasterxml.jackson.annotation.JsonProperty; -import lombok.EqualsAndHashCode; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingDto; - -import javax.validation.constraints.NotNull; -import java.io.Serializable; - -@EqualsAndHashCode -@JsonInclude(JsonInclude.Include.NON_NULL) -public final class TraitDto implements Serializable { - - private static final long serialVersionUID = 714105630780606515L; - - @NotNull - @JsonProperty("id") - private final String id; - - @NotNull - @JsonProperty("name") - private final String name; - - @JsonProperty("currentMapping") - private final MappingDto currentMapping; - - @JsonProperty("noSourceRecords") - private final int noSourceRecords; - - @NotNull - @JsonProperty("created") - private final ProvenanceDto created; - - @NotNull - @JsonProperty("lastUpdated") - private final ProvenanceDto lastUpdated; - - @JsonCreator - public TraitDto(@JsonProperty("id") String id, - @JsonProperty("name") String name, - @JsonProperty("currentMapping") MappingDto currentMapping, - @JsonProperty("noSourceRecords") int noSourceRecords, - @JsonProperty("created") ProvenanceDto created, - @JsonProperty("lastUpdated") ProvenanceDto lastUpdated) { - this.id = id; - this.name = name; - this.currentMapping = currentMapping; - this.noSourceRecords = noSourceRecords; - this.created = created; - this.lastUpdated = lastUpdated; - } - - public String getId() { - return id; - } - - public String getName() { - return name; - } - - public MappingDto getCurrentMapping() { - return currentMapping; - } - - public int getNoSourceRecords() { - return noSourceRecords; - } - - public ProvenanceDto getCreated() { - return created; - } - - public ProvenanceDto getLastUpdated() { - return lastUpdated; - } -} diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDtoTest.java new file mode 100644 index 0000000..a0ca2a9 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class EntityDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(EntityDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectCreationDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectCreationDtoTest.java new file mode 100644 index 0000000..82701b4 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectCreationDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class ProjectCreationDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(ProjectCreationDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDtoTest.java new file mode 100644 index 0000000..d453b8e --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class ProjectDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(ProjectDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProvenanceDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProvenanceDtoTest.java new file mode 100644 index 0000000..a7a29ce --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProvenanceDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class ProvenanceDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(ProvenanceDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/RoleDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/RoleDtoTest.java new file mode 100644 index 0000000..a19b30a --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/RoleDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class RoleDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(RoleDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/SourceCreationDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/SourceCreationDtoTest.java new file mode 100644 index 0000000..562d433 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/SourceCreationDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class SourceCreationDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(SourceCreationDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/SourceDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/SourceDtoTest.java new file mode 100644 index 0000000..c8268d3 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/SourceDtoTest.java @@ -0,0 +1,13 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class SourceDtoTest { + @Test + public void equalsContract() { + EqualsVerifier.forClass(SourceDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/UserDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/UserDtoTest.java new file mode 100644 index 0000000..a0d1abc --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/UserDtoTest.java @@ -0,0 +1,12 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class UserDtoTest { + @Test + public void equalsContract() { + EqualsVerifier.forClass(UserDto.class) + .verify(); + } +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/config/ExternalServiceConfigDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/config/ExternalServiceConfigDtoTest.java new file mode 100644 index 0000000..7bdc827 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/config/ExternalServiceConfigDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.config; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class ExternalServiceConfigDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(ExternalServiceConfigDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingCreationDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingCreationDtoTest.java new file mode 100644 index 0000000..857be5c --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingCreationDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class MappingCreationDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(MappingCreationDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingDtoTest.java new file mode 100644 index 0000000..052057e --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class MappingDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(MappingDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingSuggestionDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingSuggestionDtoTest.java new file mode 100644 index 0000000..d8a47da --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingSuggestionDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class MappingSuggestionDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(MappingSuggestionDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/OntologyTermDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/OntologyTermDtoTest.java new file mode 100644 index 0000000..a144b7d --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/OntologyTermDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class OntologyTermDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(OntologyTermDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/ReviewDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/ReviewDtoTest.java new file mode 100644 index 0000000..bbb0ccd --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/ReviewDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class ReviewDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(ReviewDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSEmbeddedDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSEmbeddedDtoTest.java new file mode 100644 index 0000000..51653a6 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSEmbeddedDtoTest.java @@ -0,0 +1,13 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.ols; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class OLSEmbeddedDtoTest { + @Test + public void equalsContract() { + EqualsVerifier.forClass(OLSEmbeddedDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSResponseDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSResponseDtoTest.java new file mode 100644 index 0000000..2b69965 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSResponseDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.ols; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class OLSResponseDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(OLSResponseDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSTermDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSTermDtoTest.java new file mode 100644 index 0000000..d4a59b2 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSTermDtoTest.java @@ -0,0 +1,15 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.ols; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class OLSTermDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(OLSTermDto.class) + .verify(); + } + + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOEmbeddedDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOEmbeddedDtoTest.java new file mode 100644 index 0000000..b4605ce --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOEmbeddedDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.oxo; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class OXOEmbeddedDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(OXOEmbeddedDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOMappingResponseDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOMappingResponseDtoTest.java new file mode 100644 index 0000000..a37fc30 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOMappingResponseDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.oxo; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class OXOMappingResponseDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(OXOMappingResponseDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXORequestDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXORequestDtoTest.java new file mode 100644 index 0000000..93ef96d --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXORequestDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.oxo; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class OXORequestDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(OXORequestDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOResponseDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOResponseDtoTest.java new file mode 100644 index 0000000..fe1b780 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOResponseDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.oxo; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class OXOResponseDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(OXOResponseDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOSearchResultDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOSearchResultDtoTest.java new file mode 100644 index 0000000..1bc3ad9 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/oxo/OXOSearchResultDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.oxo; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class OXOSearchResultDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(OXOSearchResultDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/zooma/ZoomaResponseDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/zooma/ZoomaResponseDtoTest.java new file mode 100644 index 0000000..ed88a25 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/zooma/ZoomaResponseDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.zooma; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class ZoomaResponseDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(ZoomaResponseDto.class) + .verify(); + } + +} \ No newline at end of file From 1a3f0db979fa41774a98431195d5b9674c531b3a Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Mon, 15 Feb 2021 22:43:14 +0800 Subject: [PATCH 12/72] Refactored user management functionality. Added project user management endpoints. --- .../curation/constants/CurationConstants.java | 2 + .../curation/repository/UserRepository.java | 2 + .../rest/assembler/RoleDtoAssembler.java | 5 + .../rest/assembler/UserDtoAssembler.java | 17 ++ .../rest/controller/EntityController.java | 5 +- .../rest/controller/MappingsController.java | 6 +- .../rest/controller/ProjectsController.java | 3 +- .../rest/controller/SourcesController.java | 10 +- .../controller/UserManagementController.java | 104 ++++++++ .../curation/rest/dto/ProjectUserDto.java | 40 ++++ .../curation/service/ProjectService.java | 3 +- .../curation/service/UserService.java | 10 +- .../service/impl/ProjectServiceImpl.java | 15 +- .../service/impl/UserServiceImpl.java | 70 +++++- .../ontotools/curation/util/CurationUtil.java | 10 + .../curation/UsersControllerTest.java | 224 ++++++++++++++++++ .../curation/rest/dto/ProjectUserDtoTest.java | 13 + 17 files changed, 516 insertions(+), 23 deletions(-) create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/UserManagementController.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectUserDto.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/UsersControllerTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectUserDtoTest.java diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java index 9b105fc..e23d57d 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java @@ -14,6 +14,8 @@ public class CurationConstants { public static final String API_ONTOLOGY_TERMS = "/ontology-terms"; + public static final String API_USERS = "/users"; + public static final String API_COMMENTS = "/comments"; public static final String PARAM_ENTITY_ID = "entityId"; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/UserRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/UserRepository.java index 44077a3..343e516 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/UserRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/UserRepository.java @@ -11,4 +11,6 @@ public interface UserRepository extends MongoRepository { Optional findByEmailIgnoreCase(String email); List findBySuperUser(boolean superUser); + + List findByRoles_ProjectId(String projectId); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/RoleDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/RoleDtoAssembler.java index 6c4d446..ffb0abc 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/RoleDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/RoleDtoAssembler.java @@ -1,5 +1,6 @@ package uk.ac.ebi.spot.ontotools.curation.rest.assembler; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; import uk.ac.ebi.spot.ontotools.curation.domain.auth.Role; import uk.ac.ebi.spot.ontotools.curation.rest.dto.RoleDto; @@ -8,4 +9,8 @@ public class RoleDtoAssembler { public static RoleDto assemble(Role role) { return new RoleDto(role.getProjectId(), role.getRole().name()); } + + public static Role disassemble(RoleDto role) { + return new Role(role.getProjectId(), ProjectRole.valueOf(role.getRole())); + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/UserDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/UserDtoAssembler.java index a75e012..9d44f5b 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/UserDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/UserDtoAssembler.java @@ -1,10 +1,27 @@ package uk.ac.ebi.spot.ontotools.curation.rest.assembler; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.rest.dto.UserDto; +import java.util.ArrayList; +import java.util.stream.Collectors; + public class UserDtoAssembler { public static UserDto assemble(String name, String email) { return new UserDto(null, name, email, null); } + + public static UserDto assemble(User user) { + return new UserDto(user.getId(), user.getName(), user.getEmail(), + user.getRoles() == null ? new ArrayList<>() : + user.getRoles().stream().map(RoleDtoAssembler::assemble).collect(Collectors.toList())); + } + + public static User disassemble(UserDto userDto) { + return new User(userDto.getId(), userDto.getName(), userDto.getEmail(), + userDto.getRoles() == null ? new ArrayList<>() : + userDto.getRoles().stream().map(RoleDtoAssembler::disassemble).collect(Collectors.toList()), + false); + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java index f251357..1f8fb51 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java @@ -10,6 +10,7 @@ import org.springframework.http.MediaType; import org.springframework.web.bind.annotation.*; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; import uk.ac.ebi.spot.ontotools.curation.domain.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; import uk.ac.ebi.spot.ontotools.curation.domain.MappingSuggestion; @@ -61,7 +62,7 @@ public class EntityController { public RestResponsePage getEntities(@PathVariable String projectId, @PageableDefault(size = 20, page = 0) Pageable pageable, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to retrieve entities: {}", user.getEmail(), projectId); - projectService.verifyAccess(projectId, user); + projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR, ProjectRole.CONSUMER})); List sources = sourceService.getSources(projectId); Map sourceMap = new HashMap<>(); for (Source source : sources) { @@ -88,7 +89,7 @@ public RestResponsePage getEntities(@PathVariable String projectId, @ public EntityDto getEntity(@PathVariable String projectId, @PathVariable String entityId, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to retrieve entity: {} | {}", user.getEmail(), projectId, entityId); - projectService.verifyAccess(projectId, user); + projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR, ProjectRole.CONSUMER})); Entity entity = entityService.retrieveEntity(entityId); Source source = sourceService.getSource(entity.getSourceId(), projectId); Map> mappings = mappingService.retrieveMappingsForEntities(Arrays.asList(new String[]{entityId})); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java index d3522e6..8766c6b 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java @@ -9,6 +9,7 @@ import org.springframework.web.bind.annotation.*; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; import uk.ac.ebi.spot.ontotools.curation.domain.*; import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; @@ -23,6 +24,7 @@ import javax.servlet.http.HttpServletRequest; import javax.validation.Valid; +import java.util.Arrays; import java.util.HashMap; import java.util.List; import java.util.Map; @@ -63,7 +65,7 @@ public class MappingsController { public EntityDto getMappings(@PathVariable String projectId, @RequestParam(value = CurationConstants.PARAM_ENTITY_ID) String entityId, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to retrieve mappings: {} | {}", user.getEmail(), projectId, entityId); - projectService.verifyAccess(projectId, user); + projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR, ProjectRole.CONSUMER})); Entity entity = entityService.retrieveEntity(entityId); return packAndSend(entity, projectId); } @@ -78,7 +80,7 @@ public EntityDto getMappings(@PathVariable String projectId, @RequestParam(value public EntityDto createMapping(@PathVariable String projectId, @RequestBody @Valid MappingCreationDto mappingCreationDto, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to create mapping: {} | {} | {}", user.getEmail(), projectId, mappingCreationDto.getEntityId(), mappingCreationDto.getOntologyTerm().getCurie()); - projectService.verifyAccess(projectId, user); + projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR})); Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); Entity entity = entityService.retrieveEntity(mappingCreationDto.getEntityId()); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java index 4dee1c5..7433812 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java @@ -23,6 +23,7 @@ import javax.servlet.http.HttpServletRequest; import javax.validation.Valid; +import java.util.Arrays; import java.util.List; import java.util.stream.Collectors; @@ -51,7 +52,7 @@ public ProjectDto createProject(@RequestBody @Valid ProjectCreationDto projectCr User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to create project: {}", user.getEmail(), projectCreationDto.getName()); Project created = projectService.createProject(ProjectDtoAssembler.disassemble(projectCreationDto, new Provenance(user.getName(), user.getEmail(), DateTime.now())), user); - userService.addProjectToUser(user, created, ProjectRole.ADMIN); + userService.addUserToProject(user, created.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN})); return ProjectDtoAssembler.assemble(created); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java index e6830b9..792f70e 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java @@ -9,6 +9,7 @@ import org.springframework.web.bind.annotation.*; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; import uk.ac.ebi.spot.ontotools.curation.domain.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.Source; @@ -22,6 +23,7 @@ import javax.servlet.http.HttpServletRequest; import javax.validation.Valid; +import java.util.Arrays; import java.util.List; import java.util.stream.Collectors; @@ -56,7 +58,7 @@ public class SourcesController { public SourceDto createSource(@RequestBody @Valid SourceCreationDto sourceCreationDto, @PathVariable String projectId, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{} | {}] Request to create source: {}", user.getEmail(), projectId, sourceCreationDto.getName()); - projectService.verifyAccess(projectId, user); + projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR})); Source created = sourceService.createSource(SourceDtoAssembler.disassemble(sourceCreationDto, new Provenance(user.getName(), user.getEmail(), DateTime.now())), projectId); return SourceDtoAssembler.assemble(created); } @@ -70,7 +72,7 @@ public SourceDto createSource(@RequestBody @Valid SourceCreationDto sourceCreati public List getSources(@PathVariable String projectId, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to retrieve sources: {}", user.getEmail(), projectId); - projectService.verifyAccess(projectId, user); + projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR, ProjectRole.CONSUMER})); List sources = sourceService.getSources(projectId); log.info("Found {} sources in project: {}", sources.size(), projectId); return sources.stream().map(SourceDtoAssembler::assemble).collect(Collectors.toList()); @@ -85,7 +87,7 @@ public List getSources(@PathVariable String projectId, HttpServletReq public SourceDto getSource(@PathVariable String projectId, @PathVariable String sourceId, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to retrieve source: {} | {}", user.getEmail(), projectId, sourceId); - projectService.verifyAccess(projectId, user); + projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR, ProjectRole.CONSUMER})); Source source = sourceService.getSource(sourceId, projectId); return SourceDtoAssembler.assemble(source); } @@ -99,7 +101,7 @@ public SourceDto getSource(@PathVariable String projectId, @PathVariable String public void addDataToSource(@RequestBody List entities, @PathVariable String projectId, @PathVariable String sourceId, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to add data to source: {} | {} | {}", user.getEmail(), projectId, sourceId, entities); - projectService.verifyAccess(projectId, user); + projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR})); Source source = sourceService.getSource(sourceId, projectId); for (String entity : entities) { entityService.createEntity(new Entity(null, entity, source.getId(), new Provenance(user.getName(), user.getEmail(), DateTime.now()), EntityStatus.UNMAPPED)); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/UserManagementController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/UserManagementController.java new file mode 100644 index 0000000..dbb2cd8 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/UserManagementController.java @@ -0,0 +1,104 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.controller; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.http.HttpStatus; +import org.springframework.http.MediaType; +import org.springframework.web.bind.annotation.*; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.rest.assembler.UserDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectUserDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.UserDto; +import uk.ac.ebi.spot.ontotools.curation.service.JWTService; +import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; +import uk.ac.ebi.spot.ontotools.curation.service.UserService; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; +import uk.ac.ebi.spot.ontotools.curation.util.CurationUtil; +import uk.ac.ebi.spot.ontotools.curation.util.HeadersUtil; + +import javax.servlet.http.HttpServletRequest; +import javax.validation.Valid; +import java.util.Arrays; +import java.util.List; +import java.util.stream.Collectors; + +@RestController +@RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) +public class UserManagementController { + + private static final Logger log = LoggerFactory.getLogger(ProjectsController.class); + + @Autowired + private JWTService jwtService; + + @Autowired + private ProjectService projectService; + + @Autowired + private UserService userService; + + /** + * GET /v1/projects/{projectId}/users + */ + @GetMapping(value = "/{projectId}" + CurationConstants.API_USERS, + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.OK) + public List getProjectUsers(@PathVariable String projectId, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to retrieve users for project: {}", user.getEmail(), projectId); + projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN})); + List users = userService.findByProjectId(projectId); + return users.stream().map(UserDtoAssembler::assemble).collect(Collectors.toList()); + } + + /** + * POST /v1/projects/{projectId}/users + */ + @PostMapping(value = "/{projectId}" + CurationConstants.API_USERS, + consumes = MediaType.APPLICATION_JSON_VALUE, + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.CREATED) + public UserDto addUserToProject(@RequestBody @Valid ProjectUserDto projectUserDto, @PathVariable String projectId, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to add user to project [{}]", user.getEmail(), projectId, projectUserDto.getUser().getEmail()); + projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN})); + User targetUser = UserDtoAssembler.disassemble(projectUserDto.getUser()); + + List projectRoles = CurationUtil.rolesFromStringList(projectUserDto.getRoles()); + targetUser = userService.addUserToProject(targetUser, projectId, projectRoles); + return UserDtoAssembler.assemble(targetUser); + } + + /** + * PUT /v1/projects/{projectId}/users/{userId} + */ + @PutMapping(value = "/{projectId}" + CurationConstants.API_USERS + "/{userId}", + consumes = MediaType.APPLICATION_JSON_VALUE, + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.OK) + public UserDto updateUserToProject(@RequestBody @Valid ProjectUserDto projectUserDto, @PathVariable String projectId, @PathVariable String userId, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to update user roles [{}] in project [{}]", user.getEmail(), userId, projectId); + projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN})); + User targetUser = UserDtoAssembler.disassemble(projectUserDto.getUser()); + List projectRoles = CurationUtil.rolesFromStringList(projectUserDto.getRoles()); + targetUser = userService.updateUserRoles(targetUser, projectId, projectRoles); + return UserDtoAssembler.assemble(targetUser); + } + + /** + * DELETE /v1/projects/{projectId}/users/{userId} + */ + @DeleteMapping(value = "/{projectId}" + CurationConstants.API_USERS + "/{userId}") + @ResponseStatus(HttpStatus.OK) + public void removeUserFromProject(@PathVariable String projectId, @PathVariable String userId, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to remove user roles [{}] in project [{}]", user.getEmail(), userId, projectId); + projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN})); + User targetUser = userService.findById(userId); + userService.removeProjectFromUser(targetUser, projectId); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectUserDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectUserDto.java new file mode 100644 index 0000000..7ae7a8e --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectUserDto.java @@ -0,0 +1,40 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import javax.validation.constraints.NotEmpty; +import java.io.Serializable; +import java.util.List; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class ProjectUserDto implements Serializable { + + private static final long serialVersionUID = -6159143959677440040L; + + @NotEmpty + @JsonProperty("roles") + private final List roles; + + @NotEmpty + @JsonProperty("user") + private final UserDto user; + + @JsonCreator + public ProjectUserDto(@JsonProperty("user") UserDto user, + @JsonProperty("roles") List roles) { + this.user = user; + this.roles = roles; + } + + public List getRoles() { + return roles; + } + + public UserDto getUser() { + return user; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectService.java index 18d9053..dac1e2d 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectService.java @@ -1,5 +1,6 @@ package uk.ac.ebi.spot.ontotools.curation.service; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; @@ -16,5 +17,5 @@ public interface ProjectService { Project retrieveProject(String projectId, User user); - void verifyAccess(String projectId, User user); + void verifyAccess(String projectId, User user, List roles); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/UserService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/UserService.java index 00d2ccd..a23c70d 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/UserService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/UserService.java @@ -4,6 +4,8 @@ import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import java.util.List; + public interface UserService { User findByEmail(String email); @@ -11,7 +13,13 @@ public interface UserService { User retrieveRobotUser(); - void addProjectToUser(User user, Project project, ProjectRole role); + User addUserToProject(User user, String projectId, List roles); void removeProjectFromUser(User user, String projectId); + + List findByProjectId(String projectId); + + User updateUserRoles(User targetUser, String projectId, List projectRoles); + + User findById(String userId); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java index 439c384..a4845ff 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java @@ -14,6 +14,7 @@ import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; import java.util.ArrayList; +import java.util.Arrays; import java.util.List; import java.util.Optional; import java.util.stream.Collectors; @@ -51,7 +52,7 @@ public Project updateProject(Project project, String projectId, User user) { log.error("[{}] Unable to find project: {}", user.getEmail(), projectId); throw new EntityNotFoundException("[" + user.getEmail() + "] Unable to find project: " + projectId); } - if (hasAccess(user, projectId)) { + if (hasAccess(user, projectId, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN}))) { Project existing = exitingOp.get(); existing.setDatasources(project.getDatasources() != null ? project.getDatasources() : new ArrayList<>()); existing.setOntologies(project.getOntologies() != null ? project.getOntologies() : new ArrayList<>()); @@ -72,7 +73,7 @@ public void deleteProject(String projectId, User user) { log.error("[{}] Unable to find project: {}", user.getEmail(), projectId); throw new EntityNotFoundException("[" + user.getEmail() + "] Unable to find project: " + projectId); } - if (hasAccess(user, projectId)) { + if (hasAccess(user, projectId, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN}))) { Project existing = exitingOp.get(); projectRepository.delete(existing); @@ -88,7 +89,7 @@ public void deleteProject(String projectId, User user) { @Override public Project retrieveProject(String projectId, User user) { log.info("[{}] Retrieving project: {}", user.getEmail(), projectId); - if (!hasAccess(user, projectId)) { + if (!hasAccess(user, projectId, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONSUMER, ProjectRole.CONTRIBUTOR}))) { log.error("[{}] User does not have access project: {}", user.getEmail(), projectId); throw new EntityNotFoundException("[" + user.getEmail() + "] Unable to find project: " + projectId); } @@ -103,9 +104,9 @@ public Project retrieveProject(String projectId, User user) { } @Override - public void verifyAccess(String projectId, User user) { + public void verifyAccess(String projectId, User user, List roles) { log.info("[{}] Verifying access to project: {}", user.getEmail(), projectId); - if (!hasAccess(user, projectId)) { + if (!hasAccess(user, projectId, roles)) { log.error("[{}] User does not have access project: {}", user.getEmail(), projectId); throw new EntityNotFoundException("[" + user.getEmail() + "] Unable to find project: " + projectId); } @@ -116,10 +117,10 @@ public void verifyAccess(String projectId, User user) { } } - private boolean hasAccess(User user, String projectId) { + private boolean hasAccess(User user, String projectId, List roles) { if (user.getRoles() != null) { for (Role role : user.getRoles()) { - if (role.getProjectId().equals(projectId) && role.getRole().equals(ProjectRole.ADMIN)) { + if (role.getProjectId().equals(projectId) && roles.contains(role.getRole())) { return true; } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/UserServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/UserServiceImpl.java index 2e40dc9..ef994fd 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/UserServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/UserServiceImpl.java @@ -5,7 +5,6 @@ import org.springframework.beans.factory.annotation.Autowired; import org.springframework.stereotype.Service; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; -import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; import uk.ac.ebi.spot.ontotools.curation.domain.auth.Role; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.exception.EntityNotFoundException; @@ -68,13 +67,65 @@ public User findRandomSuperUser() { } @Override - public void addProjectToUser(User user, Project project, ProjectRole role) { - log.info("Adding project [{}] to user [{}] with role: {}", project.getId(), user.getName(), role.name()); + public User addUserToProject(User user, String projectId, List roles) { + log.info("Adding project [{}] to user [{}] with roles: {}", projectId, user.getName(), roles); if (user.getRoles() == null) { user.setRoles(new ArrayList<>()); } - user.getRoles().add(new Role(project.getId(), role)); - userRepository.save(user); + List existingRoles = new ArrayList<>(); + List toRemove = new ArrayList<>(); + for (Role role : user.getRoles()) { + if (role.getProjectId().equalsIgnoreCase(projectId)) { + existingRoles.add(role.getRole()); + toRemove.add(role); + } + } + for (Role role : toRemove) { + user.getRoles().remove(role); + } + + for (ProjectRole projectRole : roles) { + if (!existingRoles.contains(projectRole)) { + existingRoles.add(projectRole); + } + } + + for (ProjectRole projectRole : existingRoles) { + user.getRoles().add(new Role(projectId, projectRole)); + } + return userRepository.save(user); + } + + @Override + public User updateUserRoles(User user, String projectId, List projectRoles) { + log.info("Updating roles for user [{}] in project: {}", user.getEmail(), projectId); + List toRemove = new ArrayList<>(); + for (Role role : user.getRoles()) { + if (role.getProjectId().equalsIgnoreCase(projectId)) { + toRemove.add(role); + } + } + for (Role role : toRemove) { + user.getRoles().remove(role); + } + + for (ProjectRole projectRole : projectRoles) { + user.getRoles().add(new Role(projectId, projectRole)); + } + return userRepository.save(user); + } + + @Override + public User findById(String userId) { + log.info("Retrieving user: {}", userId); + + Optional userOptional = userRepository.findById(userId); + if (!userOptional.isPresent()) { + log.error("Unable to find user: {}", userId); + throw new EntityNotFoundException("Unable to find user: " + userId); + } + + return userOptional.get(); } @Override @@ -98,4 +149,13 @@ public void removeProjectFromUser(User user, String projectId) { log.warn("Unable to find project [{}] associated with user: {}", projectId, user.getName()); } } + + @Override + public List findByProjectId(String projectId) { + log.info("Retrieving users for project: {}", projectId); + List users = userRepository.findByRoles_ProjectId(projectId); + log.info("Found {} users.", users.size()); + return users; + } + } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java index f029499..22b7aa3 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java @@ -1,5 +1,7 @@ package uk.ac.ebi.spot.ontotools.curation.util; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; + import java.util.ArrayList; import java.util.HashMap; import java.util.List; @@ -8,6 +10,14 @@ public class CurationUtil { + public static List rolesFromStringList(List list) { + List projectRoles = new ArrayList<>(); + for (String pRole : list) { + projectRoles.add(ProjectRole.valueOf(pRole.toUpperCase())); + } + return projectRoles; + } + public static List toLowerCase(List list) { if (list == null) { return null; diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/UsersControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/UsersControllerTest.java new file mode 100644 index 0000000..e335b11 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/UsersControllerTest.java @@ -0,0 +1,224 @@ +package uk.ac.ebi.spot.ontotools.curation; + +import com.fasterxml.jackson.core.type.TypeReference; +import org.junit.Test; +import org.springframework.http.MediaType; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; +import uk.ac.ebi.spot.ontotools.curation.rest.assembler.UserDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectUserDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.UserDto; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; + +import java.util.Arrays; +import java.util.List; + +import static org.junit.Assert.assertEquals; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.*; +import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; + +public class UsersControllerTest extends IntegrationTest { + + /** + * GET /v1/projects/{projectId}/users + */ + @Test + public void shouldGetUsersForProject() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + String response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + List actual = mapper.readValue(response, new TypeReference>() { + }); + + assertEquals(1, actual.size()); + assertEquals(user1.getEmail(), actual.get(0).getEmail()); + assertEquals(user1.getName(), actual.get(0).getName()); + } + + /** + * GET /v1/projects/{projectId}/users + */ + @Test + public void shouldNotGetUsersForProject() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * POST /v1/projects/{projectId}/users + */ + @Test + public void shouldAddUserToProject() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); + mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + + endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); + String response = mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isCreated()) + .andReturn() + .getResponse() + .getContentAsString(); + + UserDto actual = mapper.readValue(response, new TypeReference() { + }); + + assertEquals(user2.getEmail(), actual.getEmail()); + assertEquals(user2.getName(), actual.getName()); + assertEquals(1, actual.getRoles().size()); + assertEquals(ProjectRole.CONTRIBUTOR.name(), actual.getRoles().get(0).getRole()); + + response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + List actualList = mapper.readValue(response, new TypeReference>() { + }); + + assertEquals(2, actualList.size()); + + mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + + endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); + response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + ProjectDto actualProject = mapper.readValue(response, new TypeReference() { + }); + assertEquals(projectDto.getName(), actualProject.getName()); + assertEquals(projectDto.getDescription(), actualProject.getDescription()); + + } + + /** + * PUT /v1/projects/{projectId}/users/{userId} + */ + @Test + public void shouldUpdateUserToProject() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); + String response = mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isCreated()) + .andReturn() + .getResponse() + .getContentAsString(); + + UserDto actual = mapper.readValue(response, new TypeReference() { + }); + + assertEquals(user2.getEmail(), actual.getEmail()); + assertEquals(user2.getName(), actual.getName()); + assertEquals(1, actual.getRoles().size()); + assertEquals(ProjectRole.CONTRIBUTOR.name(), actual.getRoles().get(0).getRole()); + + endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS + "/" + user2.getId(); + ProjectUserDto updatedProjectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONSUMER.name()})); + response = mockMvc.perform(put(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(updatedProjectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + actual = mapper.readValue(response, new TypeReference() { + }); + + assertEquals(user2.getEmail(), actual.getEmail()); + assertEquals(user2.getName(), actual.getName()); + assertEquals(1, actual.getRoles().size()); + assertEquals(ProjectRole.CONSUMER.name(), actual.getRoles().get(0).getRole()); + } + + /** + * DELETE /v1/projects/{projectId}/users/{userId} + */ + @Test + public void shouldDeleteUserRolesInProject() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); + String response = mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isCreated()) + .andReturn() + .getResponse() + .getContentAsString(); + + UserDto actual = mapper.readValue(response, new TypeReference() { + }); + + assertEquals(user2.getEmail(), actual.getEmail()); + assertEquals(user2.getName(), actual.getName()); + assertEquals(1, actual.getRoles().size()); + assertEquals(ProjectRole.CONTRIBUTOR.name(), actual.getRoles().get(0).getRole()); + + endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS + "/" + user2.getId(); + mockMvc.perform(delete(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()); + + endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); + mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + + endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + List actualList = mapper.readValue(response, new TypeReference>() { + }); + + assertEquals(1, actualList.size()); + } +} diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectUserDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectUserDtoTest.java new file mode 100644 index 0000000..a142086 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectUserDtoTest.java @@ -0,0 +1,13 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class ProjectUserDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(ProjectUserDto.class) + .verify(); + } +} \ No newline at end of file From 90ac7754a9916496f1035d2b505739d2e816b97c Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Tue, 16 Feb 2021 22:20:54 +0800 Subject: [PATCH 13/72] Added data import functionality via file upload. --- pom.xml | 4 - .../curation/constants/CurationConstants.java | 2 + .../ontotools/curation/domain/Entity.java | 4 + .../rest/assembler/EntityDtoAssembler.java | 4 +- .../rest/controller/SourcesController.java | 20 +- .../curation/rest/dto/EntityDto.java | 18 + .../dto/dataimport/ImportDataElementDto.java | 47 + .../dto/dataimport/ImportDataPackageDto.java | 30 + .../curation/service/DataImportService.java | 8 + .../service/impl/DataImportServiceImpl.java | 77 + .../service/impl/EntityServiceImpl.java | 10 +- .../service/impl/MatchmakerServiceImpl.java | 4 + src/main/resources/logback-spring.xml | 20 +- .../ontotools/curation/DataImportTest.java | 65 + .../ontotools/curation/IntegrationTest.java | 15 +- .../ontotools/curation/MatchMakingTest.java | 4 +- .../dataimport/ImportDataElementDtoTest.java | 14 + .../dataimport/ImportDataPackageDtoTest.java | 14 + src/test/resources/import_test.json | 49776 ++++++++++++++++ 19 files changed, 50113 insertions(+), 23 deletions(-) create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataElementDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataPackageDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/DataImportService.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/DataImportTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataElementDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataPackageDtoTest.java create mode 100644 src/test/resources/import_test.json diff --git a/pom.xml b/pom.xml index 6bc957b..482e527 100644 --- a/pom.xml +++ b/pom.xml @@ -97,10 +97,6 @@ ${skip.coverage} - - - - ${project.build.directory}/coverage-reports/jacoco.exec diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java index e23d57d..138a6b0 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java @@ -6,6 +6,8 @@ public class CurationConstants { public static final String API_SOURCES = "/sources"; + public static final String API_UPLOAD = "/upload"; + public static final String API_PLATFORM_ADMIN = "/platform-admin"; public static final String API_MAPPINGS = "/mappings"; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Entity.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Entity.java index e1cc2da..63be43c 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Entity.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Entity.java @@ -21,6 +21,10 @@ public class Entity { private String name; + private String baseId; + + private String baseField; + @Indexed private String sourceId; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java index 833e714..66c62c5 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java @@ -4,9 +4,9 @@ import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; import uk.ac.ebi.spot.ontotools.curation.domain.MappingSuggestion; import uk.ac.ebi.spot.ontotools.curation.rest.dto.EntityDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingSuggestionDto; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; import java.util.List; import java.util.stream.Collectors; @@ -20,6 +20,8 @@ public static EntityDto assemble(Entity entity, SourceDto source, List return new EntityDto(entity.getId(), source, entity.getName(), + entity.getBaseId(), + entity.getBaseField(), entity.getMappingStatus().name(), mappingSuggestionDtos, mappingDtos, diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java index 792f70e..cee4794 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java @@ -7,6 +7,7 @@ import org.springframework.http.HttpStatus; import org.springframework.http.MediaType; import org.springframework.web.bind.annotation.*; +import org.springframework.web.multipart.MultipartFile; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; @@ -48,6 +49,9 @@ public class SourcesController { @Autowired private MatchmakerService matchmakerService; + @Autowired + private DataImportService dataImportService; + /** * POST /v1/projects/{projectId}/sources */ @@ -104,8 +108,22 @@ public void addDataToSource(@RequestBody List entities, @PathVariable St projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR})); Source source = sourceService.getSource(sourceId, projectId); for (String entity : entities) { - entityService.createEntity(new Entity(null, entity, source.getId(), new Provenance(user.getName(), user.getEmail(), DateTime.now()), EntityStatus.UNMAPPED)); + entityService.createEntity(new Entity(null, entity, null, null, + source.getId(), new Provenance(user.getName(), user.getEmail(), DateTime.now()), EntityStatus.UNMAPPED)); } matchmakerService.runMatchmaking(sourceId, projectService.retrieveProject(projectId, user)); } + + /** + * POST /v1/projects/{projectId}/sources/{sourceId}/upload + */ + @PostMapping(value = "/{projectId}" + CurationConstants.API_SOURCES + "/{sourceId}" + CurationConstants.API_UPLOAD, + consumes = MediaType.MULTIPART_FORM_DATA_VALUE) + @ResponseStatus(HttpStatus.CREATED) + public void importDataFromFile(@RequestParam MultipartFile file, @PathVariable String projectId, @PathVariable String sourceId, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to import data from file [{} - {}] to source: {} | {}", user.getEmail(), file.getOriginalFilename(), file.getSize(), projectId, sourceId); + projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR})); + dataImportService.importData(file, projectId, sourceId, user); + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java index 9c85d6b..3fe78f1 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java @@ -27,6 +27,12 @@ public final class EntityDto implements Serializable { @JsonProperty("name") private final String name; + @JsonProperty("baseId") + private final String baseId; + + @JsonProperty("baseField") + private final String baseField; + @JsonProperty("mappingStatus") private final String mappingStatus; @@ -43,6 +49,8 @@ public final class EntityDto implements Serializable { public EntityDto(@JsonProperty("id") String id, @JsonProperty("source") SourceDto source, @JsonProperty("name") String name, + @JsonProperty("baseId") String baseId, + @JsonProperty("baseField") String baseField, @JsonProperty("mappingStatus") String mappingStatus, @JsonProperty("mappingSuggestions") List mappingSuggestions, @JsonProperty("mappings") List mappings, @@ -50,6 +58,8 @@ public EntityDto(@JsonProperty("id") String id, this.id = id; this.source = source; this.name = name; + this.baseId = baseId; + this.baseField = baseField; this.mappingStatus = mappingStatus; this.mappingSuggestions = mappingSuggestions; this.mappings = mappings; @@ -83,4 +93,12 @@ public List getMappingSuggestions() { public List getMappings() { return mappings; } + + public String getBaseId() { + return baseId; + } + + public String getBaseField() { + return baseField; + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataElementDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataElementDto.java new file mode 100644 index 0000000..f9369d3 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataElementDto.java @@ -0,0 +1,47 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.dataimport; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import javax.validation.constraints.NotEmpty; +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class ImportDataElementDto implements Serializable { + + private static final long serialVersionUID = -472202121082840265L; + + @JsonProperty("baseId") + private final String baseId; + + @NotEmpty + @JsonProperty("text") + private final String text; + + @JsonProperty("baseField") + private final String baseField; + + @JsonCreator + public ImportDataElementDto(@JsonProperty("text") String text, + @JsonProperty("baseId") String baseId, + @JsonProperty("baseField") String baseField) { + this.baseId = baseId; + this.text = text; + this.baseField = baseField; + } + + public String getBaseId() { + return baseId; + } + + public String getText() { + return text; + } + + public String getBaseField() { + return baseField; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataPackageDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataPackageDto.java new file mode 100644 index 0000000..6d3e077 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataPackageDto.java @@ -0,0 +1,30 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.dataimport; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import javax.validation.constraints.NotEmpty; +import java.io.Serializable; +import java.util.List; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class ImportDataPackageDto implements Serializable { + + private static final long serialVersionUID = 5122911468770924907L; + + @NotEmpty + @JsonProperty("data") + private final List data; + + @JsonCreator + public ImportDataPackageDto(@JsonProperty("text") List data) { + this.data = data; + } + + public List getData() { + return data; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/DataImportService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/DataImportService.java new file mode 100644 index 0000000..fee8166 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/DataImportService.java @@ -0,0 +1,8 @@ +package uk.ac.ebi.spot.ontotools.curation.service; + +import org.springframework.web.multipart.MultipartFile; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; + +public interface DataImportService { + void importData(MultipartFile file, String projectId, String sourceId, User user); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java new file mode 100644 index 0000000..756f0a5 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java @@ -0,0 +1,77 @@ +package uk.ac.ebi.spot.ontotools.curation.service.impl; + +import com.fasterxml.jackson.core.type.TypeReference; +import com.fasterxml.jackson.databind.ObjectMapper; +import org.joda.time.DateTime; +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.scheduling.annotation.Async; +import org.springframework.stereotype.Service; +import org.springframework.web.multipart.MultipartFile; +import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; +import uk.ac.ebi.spot.ontotools.curation.domain.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.dataimport.ImportDataElementDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.dataimport.ImportDataPackageDto; +import uk.ac.ebi.spot.ontotools.curation.service.DataImportService; +import uk.ac.ebi.spot.ontotools.curation.service.EntityService; +import uk.ac.ebi.spot.ontotools.curation.service.MatchmakerService; +import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; + +import javax.annotation.PostConstruct; +import java.io.IOException; + +@Service +public class DataImportServiceImpl implements DataImportService { + + private static final Logger log = LoggerFactory.getLogger(DataImportService.class); + + @Autowired + private ProjectService projectService; + + @Autowired + private EntityService entityService; + + @Autowired + private MatchmakerService matchmakerService; + + private ObjectMapper objectMapper; + + @PostConstruct + public void initialize() { + this.objectMapper = new ObjectMapper(); + } + + @Async + @Override + public void importData(MultipartFile file, String projectId, String sourceId, User user) { + log.info("[{} | {}] Importing data from: {}", projectId, sourceId, file.getOriginalFilename()); + Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); + Project project = projectService.retrieveProject(projectId, user); + try { + ImportDataPackageDto importDataPackageDto = this.objectMapper.readValue(file.getInputStream(), new TypeReference() { + }); + + log.info("Received {} entries to import.", importDataPackageDto.getData().size()); + long sTime = System.currentTimeMillis(); + log.info("Creating entities ..."); + int count = 0; + for (ImportDataElementDto importDataElementDto : importDataPackageDto.getData()) { + entityService.createEntity(new Entity(null, importDataElementDto.getText(), importDataElementDto.getBaseId(), importDataElementDto.getBaseField(), + sourceId, provenance, EntityStatus.UNMAPPED)); + count++; + if (count % 100 == 0) { + log.info(" -- [{} | {}] Progress: {} of {}", count, importDataPackageDto.getData().size()); + } + } + long eTime = System.currentTimeMillis(); + log.info("{} entities created [{}s]", count, (eTime - sTime) / 1000); + matchmakerService.runMatchmaking(sourceId, project); + } catch (IOException e) { + log.error("Unable to deserialize import data file: {}", e.getMessage(), e); + } + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java index eeebfda..90966db 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java @@ -28,9 +28,9 @@ public class EntityServiceImpl implements EntityService { @Override public Entity createEntity(Entity entity) { - log.info("[{}] Creating entity: {}", entity.getSourceId(), entity.getName()); + log.debug("[{}] Creating entity: {}", entity.getSourceId(), entity.getName()); Entity created = entityRepository.insert(entity); - log.info("[{}] Entity created: {}", created.getSourceId(), created.getId()); + log.debug("[{}] Entity created: {}", created.getSourceId(), created.getId()); return created; } @@ -56,16 +56,16 @@ public Entity updateMappingStatus(Entity entity, EntityStatus mappingStatus) { @Override public Page retrieveEntitiesForSources(List sources, Pageable page) { - log.info("Retrieving entities for {} sources: {} | {}", sources.size(), page.getPageNumber(), page.getPageSize()); + log.debug("Retrieving entities for {} sources: {} | {}", sources.size(), page.getPageNumber(), page.getPageSize()); List sourceIds = sources.stream().map(Source::getId).collect(Collectors.toList()); Page entityPage = entityRepository.findBySourceIdIn(sourceIds, page); - log.info("Found {} entities.", entityPage.getContent().size()); + log.debug("Found {} entities.", entityPage.getContent().size()); return entityPage; } @Override public Entity retrieveEntity(String entityId) { - log.info("Retrieving entity: {}", entityId); + log.debug("Retrieving entity: {}", entityId); Optional entityOptional = entityRepository.findById(entityId); if (!entityOptional.isPresent()) { log.error("Unable to find entity: {}", entityId); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java index 369c976..a2782f0 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java @@ -59,9 +59,13 @@ public void runMatchmaking(String sourceId, Project project) { User robotUser = userService.retrieveRobotUser(); project.setOntologies(CurationUtil.toLowerCase(project.getOntologies())); project.setPreferredMappintOntology(project.getPreferredMappintOntology().toLowerCase()); + + long sTime = System.currentTimeMillis(); Stream entityStream = entityService.retrieveEntitiesForSource(sourceId); entityStream.forEach(entity -> this.autoMap(entity, project, robotUser)); entityStream.close(); + long eTime = System.currentTimeMillis(); + log.info("[{}] Auto-mapping done in {}s", sourceId, (eTime - sTime) / 1000); } private void autoMap(Entity entity, Project project, User user) { diff --git a/src/main/resources/logback-spring.xml b/src/main/resources/logback-spring.xml index 14f771a..823a79b 100644 --- a/src/main/resources/logback-spring.xml +++ b/src/main/resources/logback-spring.xml @@ -23,11 +23,11 @@ - + @@ -79,11 +79,11 @@ - + diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/DataImportTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/DataImportTest.java new file mode 100644 index 0000000..dc8d0fa --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/DataImportTest.java @@ -0,0 +1,65 @@ +package uk.ac.ebi.spot.ontotools.curation; + +import org.apache.http.entity.ContentType; +import org.junit.Test; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.core.io.ClassPathResource; +import org.springframework.mock.web.MockMultipartFile; +import org.springframework.test.context.ContextConfiguration; +import org.springframework.test.web.servlet.request.MockMvcRequestBuilders; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; +import uk.ac.ebi.spot.ontotools.curation.repository.EntityRepository; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; +import uk.ac.ebi.spot.ontotools.curation.service.MatchmakerService; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; + +import java.io.InputStream; + +import static org.junit.Assert.assertEquals; +import static org.mockito.ArgumentMatchers.any; +import static org.mockito.ArgumentMatchers.eq; +import static org.mockito.Mockito.doNothing; +import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; + +@ContextConfiguration(classes = {IntegrationTest.MockTaskExecutorConfig.class, + IntegrationTest.MockMatchmakerServiceConfig.class}) +public class DataImportTest extends IntegrationTest { + + private ProjectDto projectDto; + + private SourceDto sourceDto; + + @Autowired + private EntityRepository entityRepository; + + @Autowired + private MatchmakerService matchmakerService; + + @Override + public void setup() throws Exception { + super.setup(); + projectDto = super.createProject("New Project", "token1", null, null, null); + sourceDto = super.createSource(projectDto.getId()); + doNothing().when(matchmakerService).runMatchmaking(eq(sourceDto.getId()), any()); + } + + @Test + public void shouldImportData() throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + + CurationConstants.API_SOURCES + "/" + sourceDto.getId() + CurationConstants.API_UPLOAD; + + InputStream fileAsStream = new ClassPathResource("import_test.json").getInputStream(); + MockMultipartFile testFile = new MockMultipartFile("file", "import_test.json", + ContentType.APPLICATION_JSON.getMimeType(), fileAsStream); + + mockMvc.perform(MockMvcRequestBuilders.multipart(endpoint) + .file(testFile) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isCreated()); + + assertEquals(12443, entityRepository.findAll().size()); + } + +} diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index 6fefe2d..12b8759 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -3,6 +3,7 @@ import com.fasterxml.jackson.core.type.TypeReference; import com.fasterxml.jackson.databind.ObjectMapper; import org.apache.commons.codec.digest.DigestUtils; +import org.apache.commons.lang3.RandomStringUtils; import org.joda.time.DateTime; import org.junit.Before; import org.junit.runner.RunWith; @@ -28,12 +29,14 @@ import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceCreationDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; +import uk.ac.ebi.spot.ontotools.curation.service.MatchmakerService; import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; import java.util.ArrayList; import java.util.List; import static org.junit.Assert.*; +import static org.mockito.Mockito.mock; import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.post; import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; @@ -51,6 +54,15 @@ public TaskExecutor taskExecutor() { } } + @Configuration + public static class MockMatchmakerServiceConfig { + + @Bean + public MatchmakerService matchmakerService() { + return mock(MatchmakerService.class); + } + } + @Autowired private MongoTemplate mongoTemplate; @@ -166,7 +178,8 @@ protected SourceDto createSource(String projectId) throws Exception { protected void createEntityTestData(String sourceId, User user) { Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); - entity = entityRepository.insert(new Entity(null, "Achondroplasia", sourceId, provenance, EntityStatus.AUTO_MAPPED)); + entity = entityRepository.insert(new Entity(null, "Achondroplasia", RandomStringUtils.randomAlphabetic(10), + RandomStringUtils.randomAlphabetic(10), sourceId, provenance, EntityStatus.AUTO_MAPPED)); OntologyTerm orphaTerm = ontologyTermRepository.insert(new OntologyTerm(null, "Orphanet:15", "http://www.orpha.net/ORDO/Orphanet_15", DigestUtils.sha256Hex("http://www.orpha.net/ORDO/Orphanet_15"), "Achondroplasia", TermStatus.CURRENT.name(), null, null)); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java index 30e3023..b50e223 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java @@ -1,5 +1,6 @@ package uk.ac.ebi.spot.ontotools.curation; +import org.apache.commons.lang3.RandomStringUtils; import org.joda.time.DateTime; import org.junit.Test; import org.springframework.beans.factory.annotation.Autowired; @@ -75,7 +76,8 @@ public void setup() throws Exception { * - Hemochromatosis type 1 * - Retinal dystrophy */ - entity = entityService.createEntity(new Entity(null, "Achondroplasia", sourceDto.getId(), provenance, EntityStatus.UNMAPPED)); + entity = entityService.createEntity(new Entity(null, "Achondroplasia", RandomStringUtils.randomAlphabetic(10), + RandomStringUtils.randomAlphabetic(10), sourceDto.getId(), provenance, EntityStatus.UNMAPPED)); } @Test diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataElementDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataElementDtoTest.java new file mode 100644 index 0000000..87768c9 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataElementDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.dataimport; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class ImportDataElementDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(ImportDataElementDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataPackageDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataPackageDtoTest.java new file mode 100644 index 0000000..9cf34b9 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataPackageDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.dataimport; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class ImportDataPackageDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(ImportDataPackageDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/resources/import_test.json b/src/test/resources/import_test.json new file mode 100644 index 0000000..b775677 --- /dev/null +++ b/src/test/resources/import_test.json @@ -0,0 +1,49776 @@ +{ + "data": [ + { + "baseId": "15041|15042|133857|133858|133859|133860|133861|133862|133863|133864|207487|221702|240085|240086|240087|240088|240089|240090|240092|240093|240094|240095|240098|303075|303076|303080|303081|303082|303084|303091|303095|303096|303097|303104|303107|303109|303114|303115|303116|303118|303133|303134|303138|303146|303149|303150|303152|303156|303158|303159|303160|303166|303173|306349|306352|306365|306366|306374|306377|306381|306389|306390|306391|306393|306396|306399|306410|306418|306424|306426|306428|306432|306433|306434|306436|306438|306439|306443|311176|311178|311193|311196|311203|311207|311208|311209|311212|311213|311217|311218|311219|311228|311229|311231|311234|311237|311249|311251|311255|311256|311275|311291|311292|311294|311298|311307|311309|311311|311313|311318|311319|311321|311327|311331|311337|311339|311358|311359|311360|311368|311369|311384|311387|311398|311404|311405|311408|311409|311412|311422|311436|311437|311438|311444|311446|311451|311452|311455|311456|362089|362090|362091|362092|395615|395654|395884|395887|395905|395906|395917|396011|396015|396018|396306|396318|396319|396330|411562|411563|438803|441133|441136|441137|456744|457173|457177|457370|457372|457382|522686|522693|522696|522700|522710|522931|522940|522941|522944|522946|523106|523107|561626|561630|561635|561637|561959|561968|561971|561975|561979|561983|561988|566877|566887|566911|577002|577003|577004|581712|620264|620265|636174|636175|636176|636177|636178|636179|636180|636181|636182|636183|636184|636185|636186|636187|636188|636189|636190|636191|636192|636193|636194|636195|636196|636197|636198|636199|651679|651682|651684|651735|683898|683899|683900|683902|683903|683904|683906|683908|683909|683910|683912|683913|685222|685223|687059|687062|687064|687065|687068|687070|687071|687075|689872|689873|689874|689875|689877|692247|692249|692250|722551|744411|759685|833626|833627|833628|833629|833630|833631|833632|833633|833634|833635|833636|833637|833638|833639|833640|833641|833642|833643|898135|898136|898137|898138|898139|898140|898141|898142|898143|898144|898145|898146|898147|898148|898149|898150|898151|898152|898153|898154|898155|898156|898157|898158|898159|898160|898161|898162|898163|898164|898165|898166|898167|898168|898169|898170|898171|898172|898173|898174|898175|898176|898177|898178|898179|898180|898181|898182|898183|898184|898185|898186|898187|898188|898189|898190|898191|898192|898193|898194|898195|898196|898197|898198|898199|898200|898201|898202|898203|898204|898205|898206|898207|898208|898209|898210|898211|898212|898213|898214|898215|898216|898217|898218|898219|898220|898221|898222|898223|898224|898225|898226|898227|898228|898229|898230|898231|898232|898233|898234|898235|898236|898237|898238|898239|898240|898241|900369|900370|900371|900372|900373|900374|900375|924859|924860|924861|924862|924863|924864|933894|933895|940076|945638|945639|945640|945641|945642|945643|945644|955161|955162|963149", + "text": "Spastic paraplegia 48, autosomal recessive" + }, + { + "baseId": "15043|136283|136284|171113|172286|172287|204986|204987|204988|204989|204990|204991|205481|227158|539062|578520|623016|791491|791492|792609|798689", + "text": "Galloway-Mowat syndrome 1" + }, + { + "baseId": "15044|15045|40005|101651|211503|444750|858564|903577|920295|969169", + "text": "Mitochondrial complex 1 deficiency, nuclear type 19" + }, + { + "baseId": 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+ "text": "Leigh syndrome" + }, + { + "baseId": 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+ "text": "Inborn genetic diseases" + }, + { + "baseId": "15048|15049|15050|15051|15052|15055|15056|15057|15058|17404|17410|19325|94503|134671|186058|186284|205545|212520|213452|221629|221643|221646|222805|224314|224315|239897|299721|299725|299728|299729|299735|299736|302313|302329|302330|302332|302333|306734|307009|307017|307028|307029|395087|395090|395258|395689|395931|455484|455591|561169|620224|621748|790139|790140|790670|895721|895722|895723|895724|895725|895726|895727|895728|895729|895730|895731|895732|895733|895734|895735|895736|895737|896216", + "text": "Hemochromatosis type 1" + }, + { + "baseId": "15048", + "text": "Porphyria cutanea tarda, susceptibility to" + }, + { + "baseId": "15048", + "text": "Porphyria variegata, susceptibility to" + }, + { + "baseId": "15048|19324", + "text": "Hemochromatosis, juvenile, digenic" + }, + { + "baseId": "15048|18672|27428|27656|33210|390084", + "text": "Alzheimer disease, susceptibility to" + }, + { + "baseId": "15048", + "text": "Transferrin serum level quantitative trait locus 2" + }, + { + "baseId": "15048|15049", + "text": "Microvascular complications of diabetes 7" + }, + { + "baseId": 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+ "text": "Hereditary cancer-predisposing syndrome" + }, + { + "baseId": 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+ "text": "Hereditary hemochromatosis" + }, + { + "baseId": "15048|966618|969329", + "text": "Cutaneous photosensitivity" + }, + { + "baseId": "15048|360805", + "text": "Porphyrinuria" + }, + { + "baseId": "15048|682747", + "text": "Hemochromatosis type 2" + }, + { + "baseId": "15048|15049", + "text": "Bronze diabetes" + }, + { + "baseId": 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+ "text": "7 conditions" + }, + { + "baseId": 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+ "text": "6 conditions" + }, + { + "baseId": 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+ "text": "Cystic fibrosis" + }, + { + "baseId": "15053", + "text": "HFE INTRONIC POLYMORPHISM" + }, + { + "baseId": "15054|15055", + "text": "HFE POLYMORPHISM" + }, + { + "baseId": 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+ "text": "Cranioectodermal dysplasia 2" + }, + { + "baseId": "15063|15064|15065|15066|133702|133703|133704|152958|152959|152960|244168|260803|267423|335045|335048|335051|335060|335067|335074|335075|344830|344832|344834|344839|344840|344843|344846|344851|349775|349778|349781|349782|349784|350785|350788|350789|350792|350793|350796|350797|353583|377969|424226|446212|509045|535709|848258|885932|885933|885934|885935|885936|885937|885938|885939|885940|885941|885942|885943|885944|885945|885946|887436|887437", + "text": "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" + }, + { + "baseId": "15067|177212|884608|918769", + "text": "Retinitis pigmentosa 58" + }, + { + "baseId": "15067|76616|101480|105678|105683|105694|105695|105697|193413|195456|252354|256338|276556|276557|276559|276574|277045|285839|285845|285847|286597|286598|286599|286605|286612|286620|288382|288828|288829|288835|288837|288845|288848|288849|288851|289235|289236|289240|289247|289918|291381|293005|293389|293396|293404|293405|300123|300126|300134|300137|300141|300173|302858|302861|302865|302867|302869|302871|307243|307263|307275|307276|307289|307361|307363|307369|307471|307480|307508|307515|307521|307522|307578|308121|308122|308139|309406|310951|312529|314772|314795|318344|318809|318838|318854|320386|321090|327227|329401|329410|329414|329421|329440|329441|329442|329443|329444|329445|329448|329452|329455|333926|333959|334250|334252|337254|337259|339390|339395|339690|339706|339710|339716|339719|339724|339730|339732|339733|339736|339740|339742|339743|343491|343885|343913|344187|344188|344216|345436|345449|345454|345456|345458|345460|345465|345466|346116|346800|346801|346803|346805|346806|346812|346815|346816|349196|349200|349209|350128|350359|351471|351490|353450|353451|353520|353771|353775|353806|353840|620083", + "text": "Retinitis Pigmentosa, Dominant" + }, + { + "baseId": "15068|15069|15070|15071|15072|15073|200652|200653|200654|200655|200656|200657|200658|200659|200660|200661|200662|200663|200664|200665|200666|200667|200668|200669|200670|200671|200672|200673|200674|200675|200676|200677|200678|200679|200680|200681|200682|200683|200684|200685|200686|311815|311816|311822|311830|311833|311834|311841|311843|311845|317422|317423|317430|317432|317439|317445|317446|317447|317448|317450|317453|317454|323464|323485|323488|324086|324087|324091|324101|324105|324106|324129|324131|324134|361418|384488|513085|513086|545322|545324|545327|545330|545331|545663|545666|545672|545673|545674|545675|545677|545679|545680|545681|545956|584999|613512|620826|737669|737671|752359|752360|768089|768091|768092|783790|783791|783794|837569|866646|866647|866648|866649|866650|866651|866652|866653|866654|866655|866656|866657|866658|866659|866660|866661|866662|866663|866664|866665|866666|866667|866668|866669|866670|866671|866672|866673|868546|978810|978811|978812|978813|978814|978815|978816|978817|978818|978819|978820", + "text": "Primary hyperoxaluria, type III" + }, + { + "baseId": "15074|15075|15076|15077|15078|102110|102111|176952|286942|286944|537353|542144|542196|542200|542299|719931|719932|719934|733534|747733|747734|763375|781417|799305|816401|826873|826883|826884|826888|885305|918778|931539|953159|953161|953163|977724|977725|977726|977727|977728|977729|977730|977731|977732|977733|977734|977735|977736|977737|977738", + "text": "Retinitis pigmentosa 28" + }, + { + "baseId": 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+ "text": "Retinal dystrophy" + }, + { + "baseId": 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+ "text": "Autosomal recessive retinitis pigmentosa" + }, + { + "baseId": 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+ "text": "Cone-rod dystrophy" + }, + { + "baseId": 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+ "text": "Retinitis pigmentosa" + }, + { + "baseId": "15079|15080|15081|15082|15083|39992|39993|39994|39995|39996|39997|39998|39999|99440|99442|99443|99444|141609|141610|141611|141612|141613|169473|169474|169475|169477|169478|169480|169481|169482|169483|169484|169485|169486|169487|169488|169489|169490|169491|169492|169493|169495|169496|169497|169499|169501|169502|169505|169506|169507|169508|169509|169510|169511|169512|169513|169514|169515|169517|169518|169519|169520|169521|169522|169523|169524|169526|169527|169528|169529|169530|169531|169532|169533|169534|169536|169537|169538|169539|169540|178157|192271|193023|193774|208571|208575|208576|208578|265067|268026|268831|333226|333227|333234|333239|333241|333242|333254|333265|333266|343335|343337|343340|343342|343343|343346|343349|343351|343353|348629|348630|348631|348634|348635|348638|348639|348641|349700|349703|349704|349707|349708|349711|349712|349715|349716|379530|413504|430185|430187|430189|446093|488843|492004|508924|613133|620635|620636|623017|623018|669669|677265|681832|728140|756942|806043|806290|855116|880367|880368|880369|880370|880371|880372|880373|880374|880375|880376|880377|880378|880379|880380|880381|880382|880383|880384|880385|880386|880735|880736|880737|880738|880739|880740|880741|919851|964523|965746|966006|966007|966008|966009", + "text": "Primary autosomal recessive microcephaly 2" + }, + { + "baseId": "15080|19999|34434|167642|208040|222995|247394|247395|247396|428854|496152", + "text": "Primary autosomal recessive microcephaly" + }, + { + "baseId": "15084|101641|172323|186006|190552|190886|212273|221320|221321|221321|250755|250756|250757|250759|286960|286966|286970|286971|286975|286988|286989|287727|287744|287746|287748|287751|290127|290128|290129|290132|290134|290495|290497|290499|290503|290516|290517|290518|512811|518584|518637|560894|620090|620749|683505|683506|683507|686230|686231|885314|885315|885316|885317|885318|885319|885320|885321|885322|885323|885324|885325|887382|887383|887384|887385|887386|906280|963128|969601|969602", + "text": "Bardet-Biedl syndrome 15" + }, + { + "baseId": "15085", + "text": "Bardet-Biedl syndrome 12, modifier of" + }, + { + "baseId": "15086", + "text": "Meckel syndrome, type 6, modifier of" + }, + { + "baseId": "15087|15088|15089|135980|135981|135982|135983|135984|135985|135986|143094|143095|143096|143097|143099|143100|143101|143102|192294|192295|192525|194350|203222|203228|203234|203238|203241|203242|203245|203246|203250|208250|230634|230638|230643|230645|324792|324793|324797|324799|324803|324818|324819|324823|324827|324829|324833|324836|324839|324840|324843|324847|324856|324858|324860|324861|324862|324873|324874|324878|324879|324883|334412|334415|334416|334423|334426|334429|334436|334440|334444|334447|334450|334457|334459|334470|334471|334473|334474|334476|334481|334484|334486|334488|334490|334495|341007|341008|341009|341012|341013|341020|341021|341023|341024|341027|341030|341032|341036|341037|341038|341039|341043|341045|341046|341047|341048|341053|341057|342539|342547|342548|342550|342551|342552|342553|342558|342560|342563|342565|342567|342569|342572|342575|342579|342582|342583|342587|342588|342589|342590|342592|342594|342595|342598|342602|342604|342607|374293|374986|375027|426166|429780|429781|614419|644501|797289|874994|874995|874996|874997|874998|874999|875000|875001|875002|875003|875004|875005|875006|875007|875008|875009|875010|875011|875012|875013|875014|875015|875016|875017|875018|875019|875020|875021|875022|875023|875024|875025|875026|875027|875028|875029|875030|875031|875032|875033|875034|875035|875036|875037|875038|875039|875040|875041|875042|875043|875044|875045|875046|875047", + "text": "Myoclonic epilepsy, familial infantile" + }, + { + "baseId": "15088|71464|96871|96874|96874|135980|135981|135982|135983|135984|135985|135986|135987|136991|143096|143097|143098|143099|143100|143101|181290|192295|192296|192525|194350|203221|203222|203223|203224|203225|203226|203228|203228|203229|203230|203233|203234|203236|203238|203240|203241|203241|203242|203242|203245|203247|203248|203250|203252|203253|203254|204635|208250|230634|230635|230636|230638|230643|230645|230645|242398|269132|271757|324793|341009|341012|341013|362597|362598|374296|374986|374995|375002|375011|375027|375276|375281|375283|377427|377432|377436|401123|401125|401880|401887|409578|409583|413423|413424|413425|413897|422086|422086|422087|426165|426166|429779|429780|441890|445550|445553|465533|465575|465579|465581|466288|466298|466302|466307|466339|466552|466556|466560|466569|466570|466573|486131|497076|497258|497477|529860|529862|529945|529950|529951|529956|530198|530395|568036|568038|570029|570030|570033|570218|570219|570221|570222|570225|573994|573996|578528|580064|614419|644496|644497|644498|644499|644500|644501|644502|644503|644504|644505|644506|644507|644508|644509|644510|644511|644512|653128|653252|684581|688556|688557|688558|688559|770799|788897|843650|843651|843652|843653|843654|843655|843656|843657|843658|843659|843660|843661|843662|843663|843664|843665|843666|843667|843668|843669|843670|874998|875001|919636|919637|919637|927749|937387|937388|937389|937390|937391|937392|949330|949331|949332|949333|949334|949335|957710|957711|957712|957713|957714|957715|960842", + "text": "Deafness, autosomal dominant 65" + }, + { + "baseId": 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+ "text": "Caused by mutation in the TBC1 domain family, member 24" + }, + { + "baseId": 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+ "text": "Epileptic encephalopathy, early infantile, 1" + }, + { + "baseId": 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+ "text": "Nephronophthisis-like nephropathy 1" + }, + { + "baseId": "15092|15093|133983|133983|140298|140298|140299|140299|211578|254440|316224|316225|316228|316231|323564|323565|323568|323579|329708|329709|329709|329718|329721|330961|330963|330965|330966|330969|330970|503572|538428|566397|640668|640669|684309|687914|753174|801553|820448|839377|839378|869424|869425|869426|869427|869428|869429|869430|869431|869432|869433|869434|869435|869436|869437|869438|869439|869440|869441|869442|869443|904204|947809", + "text": "Combined oxidative phosphorylation deficiency 7" + }, + { + "baseId": 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+ "text": "Epileptic encephalopathy" + }, + { + "baseId": 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+ "text": "Primary autosomal recessive microcephaly 9" + }, + { + "baseId": "15094|39987|39989|39990|39991|101548|101548|101549|101550|101551|140422|140423|140424|140425|140426|140427|140428|140429|169123|169125|169126|169128|169129|169132|169133|169138|169140|169141|169142|169148|169148|169149|169152|169154|169154|169159|169163|169164|169168|169172|169174|169175|169176|322812|322813|322814|322817|322818|332286|332288|332290|332291|332298|332299|332302|332305|332310|332323|332325|332332|332333|332347|339307|339310|339311|339312|339314|339321|339330|339338|340752|340760|340762|340764|340768|340775|340777|340781|373593|374218|390686|513631|714475|770213|873743|873744|873745|873746|873747|873748|873749|873750|873751|873752|873753|873754|873755|873756|873757|873758|873759|873760|873761|873762|873763|873764|873765|873766|873767|873768|919579|919580", + "text": "Seckel syndrome 5" + }, + { + "baseId": "15094|169154|332308|620523|620869|620870|620871", + "text": "CEP152-Related Disorders" + }, + { + "baseId": "15096|15096|15097|15098|15099|166293|176930|176930|178060|178060|190854|191240|196005|206781|206782|206783|206784|249845|249846|249846|249848|249848|249850|249851|249854|268658|268658|280170|280177|280179|280185|280185|280192|280192|280530|280538|280538|280543|280543|280560|280560|280561|280563|281826|281828|281955|281956|281956|281968|281974|281974|281975|281978|281979|281980|427758|427758|427759|447949|447949|448070|448070|515777|515777|552297|556940|612139|622312|627685|627686|627687|627688|627689|650586|650710|690565|690565|690570|695042|695043|695044|695044|707257|818956|823805|823806|823807|823807|823808|823809|823810|823811|823812|823813|823814|823815|823816|823817|823818|823819|823820|823821|823822|850778|864180|864181|864182|864183|864184|864185|864186|865168|865169|921959|921960|921961|921962|930434|930435|939807|941888|941889|941890|941891|941892|941893|952364|952365|952366|952367|952368|952369|952370", + "text": "Senior-Loken syndrome 7" + }, + { + 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+ "text": "Bardet-Biedl syndrome" + }, + { + "baseId": "15096|15099|15100|166292|166293|166293|176930|176930|178060|178060|190854|191240|196005|205134|206781|206784|249845|249846|249846|249848|249848|249850|249851|249854|268658|268658|280170|280177|280179|280185|280185|280192|280192|280530|280538|280538|280543|280543|280560|280560|280561|280563|281826|281828|281955|281956|281956|281968|281974|281974|281975|281978|281979|281980|427758|427758|427759|447949|447949|448070|448070|515777|515777|552297|556940|612174|622312|622860|627685|627686|627687|627688|627689|650586|650710|690565|690565|690570|695042|695043|695044|695044|707257|789361|818956|823805|823806|823807|823807|823808|823809|823810|823811|823812|823813|823814|823815|823816|823817|823818|823819|823820|823821|823822|850778|864180|864181|864182|864183|864184|864185|864186|865168|865169|906278|918625|921959|921960|921961|921962|930434|930435|939807|941888|941889|941890|941891|941892|941893|952364|952365|952366|952367|952368|952369|952370", + "text": "Bardet-Biedl syndrome 16" + }, + { + "baseId": "15101|15102|15103", + "text": "Tritanopia" + }, + { + "baseId": "15104|15105|15106|15111|15112|15113|15114|15115|248651|249962|249963|280657|280668|280676|281155|282433|282696|282698|746521|789972|864495|864496|864497|864498|864499|864500|864501|864502|864503|864504|864505|864506|865186|865187|903667", + "text": "Familial porphyria cutanea tarda" + }, + { + "baseId": "15105|15107|15108|15109|15110", + "text": "Hepatoerythropoietic porphyria" + }, + { + "baseId": "15105|75613|75614|281152|281154|282431|282695|282699|353103", + "text": "Porphyria cutanea tarda" + }, + { + "baseId": "15110", + "text": "Porphyria cutanea tarda, type I" + }, + { + "baseId": "15116|15119|15120|15121|190730|192211|253908|253909|311624|311628|311633|311636|311638|311639|311640|311644|311646|311651|311658|317185|317188|317193|317194|317199|317202|317207|317208|317209|317220|317222|317225|317227|323214|323218|323219|323229|323232|323233|323236|323243|323255|323256|323257|323258|323813|323814|323822|323823|323826|323827|323828|323832|323833|545635|545648", + "text": "Wolman disease" + }, + { + "baseId": "15116|15117|15118|15119|15121|94353|190730|192211|193399|195569|199794|205164|253908|253909|266300|273974|274223|311624|311628|311633|311638|311639|311640|311644|317185|317188|317193|317194|317199|317209|317220|317222|317225|323214|323218|323219|323236|323243|323255|323256|323813|323822|323826|323827|323828|323832|323833|423865|460671|489048|490257|490500|492955|525605|545310|545311|545315|545317|545319|545321|545611|545612|545626|545633|545635|545647|545648|545650|545654|545657|545667|545671|545947|545952|545953|564048|569890|585506|585777|586202|586607|587039|587407|589564|589766|639304|652047|683151|683152|683153|683154|683155|683156|683157|683158|683159|683160|683161|683162|683163|683164|683165|683166|683167|683168|683169|683170|683171|683172|683173|683174|683175|683176|683177|683178|683179|683180|683181|683182|683183|683184|737633|737634|737636|744655|752325|768051|768054|768056|768057|768058|768059|775566|779512|783776|783778|820277|820278|820279|837473|851397|857331|866532|866533|866534|866537|866538|866539|866540|866542|866543|866545|866546|866547|866548|868533|868534|919303|925975|935231|935232|935233|940186|947131|959951|972099|972100|972101|972102|978805|978806|978807|978808|978809", + "text": "Lysosomal acid lipase deficiency" + }, + { + "baseId": "15119", + "text": "Cholesteryl ester storage disease" + }, + { + "baseId": "15122|15123|15124|15125|15126|15127|15128|15129|75281|791020", + "text": "Urofacial syndrome 1" + }, + { + "baseId": "15130|15131|15132|15133|15134|70551|194549|194550|253089|253094|253096|304724|304726|304728|304732|304736|304745|304747|304751|304752|304754|304755|304756|304761|304763|308419|308421|308423|308426|308429|308430|308431|308432|308433|308434|313506|313507|313514|313515|313516|313521|313525|313526|313526|313537|313538|313539|313541|313542|313544|313616|313621|313622|313623|313625|313626|313629|313631|313642|313645|413771|497027|536065|536066|577056|577057|626174|679517|680100|700503|777762|777764|790792|790793|800712|800713|800714|800715|800716|800717|800718|800719|800720|800722|800723|800724|800725|800726|800727|800728|800729|800730|800731|800732|800733|800734|800735|800736|800737|800738|800739|800742|800743|800745|800746|800747|800748|800749|800750|800751|899197|899198|899199|899200|899201|899202|899203|899204|899205|899206|899207|899208|899209|899210|899211|899212|899213|899214|899215|899216|899217|899218|899219|899220|899221|899222|899223|899224|899225|899226|899227|900462|900463", + "text": "Farber disease" + }, + { + "baseId": "15135|15136|15137|15138|15139|204460|337805|337807|337809|337812|337818|337822|337829|337840|337841|337845|337847|347408|347409|347414|347415|347416|347418|347421|347422|347423|347426|347427|347430|351348|351351|351352|351355|351356|351359|351360|351363|351364|351366|351367|351368|351369|352381|352382|352383|352386|352387|352388|352391|352392|352393|352394|352395|352396|353604|363797|433960|433962|470138|470139|470141|471060|471065|471497|471909|534201|534208|534209|534213|534223|534227|534228|573353|573357|574087|574089|575251|610169|614490|614491|614492|649368|649369|649370|649371|649372|649373|649374|649375|653254|653602|653711|717398|717399|729138|729139|742847|742848|742849|742850|742853|745365|758036|760753|760979|773509|773511|773512|776848|786579|792052|849217|849218|849219|849220|849221|849222|849223|849224|849225|849226|849227|849228|849229|849230|849231|849232|849233|857386|891080|891081|891082|891083|891084|891085|891086|891087|891088|891089|891090|891091|891092|891093|891094|891095|891096|891818|929460|929461|929462|939268|939269|939270|939271|939272|940530|951421|951422|951423|951424|959070", + "text": "Transcolabamin II deficiency" + }, + { + "baseId": "15136", + "text": "TRANSCOBALAMIN II POLYMORPHISM" + }, + { + "baseId": "15140|15141|15142|15143|15144|177344|177528|190306|190311|192268|267424|285916|288922|288935|289346|490280|512895|590511|818214|859158|905054", + "text": "Retinitis pigmentosa 54" + }, + { + "baseId": "15145|21387|32675", + "text": "Bone mineral density quantitative trait locus 15" + }, + { + "baseId": "15146|15147|15148|15149|38740|38741|38743|38744|151770|184108", + "text": "Pheochromocytoma, susceptibility to" + }, + { + "baseId": 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+ "text": "Pheochromocytoma" + }, + { + "baseId": "15150|15151|15152|15153|15154|490107|513104|513105|615891", + "text": "Arthrogryposis, renal dysfunction, and cholestasis 2" + }, + { + "baseId": "15155", + "text": "Keratosis linearis with ichthyosis congenita and sclerosing keratoderma" + }, + { + "baseId": "15156|15170|15171", + "text": "Homocystinuria, pyridoxine-nonresponsive" + }, + { + "baseId": "15156|15159|15165|15168|15169", + "text": "HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED" + }, + { + "baseId": 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+ "text": "Classic homocystinuria" + }, + { + "baseId": "15156|15157|15158|15159|15161|15164|15165|15167|15171|29317|98334|187051|187055|187056|187058|187059|187062|196148|199952|210429|210437|210443|210444|336873|336881|346575|346577|350762|358636|358637|358643|358648|471223|488011|488016|621647|621874|800981|848818|906109|917313", + "text": "Homocystinuria" + }, + { + "baseId": 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+ "text": "Cardiovascular phenotype" + }, + { + "baseId": "15157|15158|15159|15160|15161|15162|15163|15164|15165|15166|15167", + "text": "Homocystinuria, pyridoxine-responsive" + }, + { + "baseId": 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+ "text": "none provided" + }, + { + "baseId": 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+ "text": "Intellectual disability" + }, + { + "baseId": "15172", + "text": "CYSTATHIONINE BETA-SYNTHETASE POLYMORPHISM" + }, + { + "baseId": "15173|15174|15175|15176|15177|174132|174688|190344|190346|229679|433987|615805|615806|799588", + "text": "Deafness, autosomal recessive 79" + }, + { + "baseId": "15178|15179|15180|15181|15182|15183|15184|206610|206611|206612|206613|206614|206615|206616|206617|206618|206619|206620|206621|206622|206623|206624|206625|206626|206627|206628|206629|206630|206634|206635|257436|257437|257440|257442|446305|446898|446899|469481|469482|469486|469495|469499|469501|469502|470542|470544|470546|470549|471043|471045|471051|471067|471502|471504|471505|471507|471513|471518|471530|481243|533720|533724|533730|533732|533736|533738|533741|533742|533754|534297|534303|534307|539010|571412|571416|571418|571420|572987|572991|573683|573685|573695|575139|575140|612166|612335|648849|648850|648851|648852|648853|648854|648855|648856|648857|648858|648859|648860|648861|648862|648863|653115|653643|654917|654918|694597|694598|694599|694600|694601|694602|694605|695853|742564|757711|773262|773264|773265|848612|848613|848614|848615|848616|848617|848618|848619|848620|848621|848622|848623|848624|848625|848626|848627|848628|861426|929266|929267|929268|929269|929270|929271|939058|939059|939060|940515|951180|951181|958922|958923|958924", + "text": "Brown-Vialetto-Van Laere syndrome 1" + }, + { + "baseId": "15185|15186|15187|15188|15189|15190|15191|15192|15193|15194|15195|15196|15197|15198|15199|15200|15201|15202|15203|15204|15205|15206|15207|15208|15209|15210|15211|15212|15213|15214|15215|15216|15217|15218|15219|15220|15221|15222|70750|70751|70753|70754|70755|70758|70759|70760|70761|70762|70763|70764|70765|70767|70768|70769|70770|70771|70772|70773|70774|70775|70776|70777|70778|70779|70780|177892|190734|195866|309693|309697|309698|309706|309709|309710|314547|314550|314565|320614|320618|320619|320620|320624|320637|321119|321129|321131|321132|321135|321136|321139|360916|361582|437880|459717|460162|460174|460181|460185|525219|525530|545381|563616|564512|588588|590288|638770|638771|651951|692797|692799|692800|695471|723829|737391|759784|759906|767658|775452|783555|800691|818276|836691|836692|852231|865570|865571|865572|865573|865574|865575|865576|865577|865578|865579|865580|865581|865582|865583|865584|868456|925762|925763|925764|934977|940164|946836|946837|946838|956003|956004|956005|978624|978625|978626|978627|978628|978629|978630|978631|978632|978633", + "text": "Ornithine aminotransferase deficiency" + }, + { + "baseId": "15201|15220", + "text": "Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia" + }, + { + "baseId": "15223|15224|15225|15226|106014|106015|106016|106018|106019|106024|106025|106026|106027|106028|106029|303758|303759|303760|303766|303768|307251|307253|307258|307261|307262|312127|312128|312207|312225|312232|359881|619920|620282|711227|898593|898594|898595|898596|898597|898598|898599|898600|898601|898602|898603|898604|898605|898606|898607|898608|900429|961046|961062", + "text": "Dihydropyrimidinase deficiency" + }, + { + "baseId": "15227|15228|15229|15230|70572|191174|191175|191352|213775|251841|251842|251843|251844|271767|273301|296826|296837|296838|296839|296841|296842|296845|296846|296848|296849|296851|296852|296861|296866|296871|296873|296878|296880|296885|296892|296908|296909|296917|296919|296921|296925|296928|296932|296944|296960|298791|298792|298793|298794|298797|298798|298799|298803|298807|298808|298810|298812|298819|298820|298826|298828|298829|298830|298833|298835|298838|298840|298841|298850|298851|298852|298854|303002|303003|303009|303054|303058|303059|303060|303062|303063|303067|303088|303089|303090|303092|303094|303108|303111|303139|303141|303142|303148|303167|303168|303169|303170|303171|303172|303175|303178|303189|303198|303199|303201|303202|303204|303218|303226|303237|303251|303254|303261|303264|303266|303273|303277|303278|303279|303282|303288|303298|303303|303304|303306|488706|491270|493099|538377|709828|735009|788775|893877|893878|893879|893880|893881|893882|893883|893884|893885|893886|893887|893888|893889|893890|893891|893892|893893|893894|893895|893896|893897|893898|893899|893900|893901|893902|893903|893904|893905|893906|893907|893908|893909|893910|893911|893912|893913|893914|893915|893916|893917|893918|893919|893920|893921|893922|893923|893924|893925|893926|893927|893928|893929|893930|893931|893932|893933|893934|893935|893936|893937|893938|893939|893940|893941|893942|893943|893944|893945|893946|893947|893948|893949|893950|893951|893952|896077|896078", + "text": "Frank-Ter Haar syndrome" + }, + { + "baseId": "15231|553277", + "text": "Spinocerebellar ataxia type 8" + }, + { + "baseId": "15232|15233|15234|15235|53055|53056|53057|53058|173952|229177|293452|293455|293459|294857|298476|298478|298497|298501|298503|298550|298551|298553|298554|298567|513051|620164|890679|890680|890681|975781", + "text": "Deafness, autosomal recessive 25" + }, + { + "baseId": "15236|15236|15237|71023|71023|131828|131829|190353|190354|193481|214309|214310|214311|254216|254219|267184|274218|274218|314373|314380|320991|320993|320997|320998|320999|321003|327057|327058|327075|327082|327091|328152|328160|328166|357972|357973|357974|357975|357976|444839|490294|546039|546040|546321|546327|546451|546455|546462|546470|546472|546474|546667|546677|546686|546690|588035|588644|589661|687793|687794|695529|838578|838580|868159|868160|868161|868162|868163|868164|868165|868166|868167|868663|979013|979014|979015", + "text": "Joubert syndrome 2" + }, + { + "baseId": "15236|15236|15237|15238|15239|71023|71023|131828|131829|190353|190354|254216|254219|267184|274218|274218|314373|314380|320991|320993|320997|320998|320999|321003|327057|327058|327075|327082|327091|328152|328160|328166|357972|357973|357974|357975|357976|546039|546040|546321|546327|546451|546455|546462|546470|546472|546474|546667|546677|546686|546690|589661|868159|868160|868161|868162|868163|868164|868165|868166|868167|868663", + "text": "Meckel syndrome, type 2" + }, + { + "baseId": 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+ "text": "Joubert syndrome" + }, + { + "baseId": "15236|71023", + "text": "TMEM216-Related Disorders" + }, + { + "baseId": "15240|15241|15242|33438|166127|488186|488187|488188|488189|488190|488191|488192|488193|488194|488195|488196|488197|488198|488199|488200|488201|488202|488203|550626|614428|715000|788899|937523", + "text": "Poikiloderma with neutropenia" + }, + { + "baseId": "15243|15244|15245|15246|442563", + "text": "Thyrotoxic periodic paralysis 2" + }, + { + "baseId": "15243|15244|15246|32666|32667|32668|152920|152921|152923|152924|152925|152926|447524|447676|556752|576456", + "text": "Thyrotoxic periodic paralysis, susceptibility to, 1" + }, + { + "baseId": "15247|15248|15250|15251|15252|15253|15254|15255|15256|15257|206589|206590|333091|333095|333098|333102|333104|333116|333117|333119|333120|333123|333124|333125|343197|343199|343206|343207|343212|343215|343216|343218|343220|343225|343228|343230|343232|343234|343243|348563|348564|348565|348566|348567|348569|348572|348575|348577|348578|348585|348586|349644|349646|349647|349649|349650|349652|349653|349656|349659|349660|349661|349663|349664|349665|349666|513660|587745|716363|716364|716365|716369|792814|798744|798745|880271|880272|880273|880274|880275|880276|880277|880278|880279|880280|880281|880282|880283|880284|880285|880286|880287|880727|880728", + "text": "Prolidase deficiency" + }, + { + "baseId": "15258", + "text": "Aspartylglucosaminuria, finnish type" + }, + { + "baseId": "15258|15259|15260|15261|15262|15263|15264|15265|15266|15267|15268|70577|70578|70579|70580|70581|70582|70583|70584|70585|70586|70587|70588|70589|70590|70591|70592|70593|98218|98219|98220|98221|186679|251371|274821|275494|292917|292920|292921|294280|294289|294294|294295|294296|294298|294300|297725|297726|297728|297735|297737|297738|297739|297747|297749|297820|297823|297829|297836|297837|297838|297839|297850|357328|357329|357330|357331|357332|357333|357334|357335|357336|359615|364242|367915|414968|487014|520079|543094|543096|543097|543366|543372|543382|543383|543388|543390|543392|543429|543441|563591|581752|612269|626142|632092|632093|651166|698437|709240|720841|734523|764382|764384|764385|764386|774894|777471|781902|781903|819465|828960|828961|828962|828963|828964|890484|890485|890486|890487|890488|890489|890490|890491|890492|890493|890494|890495|890496|890497|890498|890499|890500|891777|920201|939965|943904|943905|943906|953724|953725|978059|978060|978061|978062|978063|978064|978065|978066|978067|978068", + "text": "Aspartylglucosaminuria" + }, + { + "baseId": "15269|514848|514849", + "text": "Methemoglobinemia type 4" + }, + { + "baseId": "15270|15271|15272|171258|322861|322863|322864|322866|322867|322868|322874|322923|322926|322927|322945|322946|322958|322959|322963|322970|322975|332379|332385|332386|332393|332398|332435|332450|332454|332477|332479|332489|332501|332507|332513|332514|332516|339412|339420|339438|339441|339457|339467|339480|340805|340807|340823|340845|340864|340877|340881|340889|340893|340894|340899|340900|340915|340916|513221|513223|620873|873806|873808|873809|873810|873811|873812|873813|873814|873815|873816|873817|873818|873819|873820|873821|873822|873823|873825|873826|873827|873828|873829|873830|873831|873833|873834|873835|873836|873837|873838|873839|873840|873841|873842|873843|873844|873845|873846|873847|873848|873849|873850|873851|873852|873853|873854|873855|873856|873857|873858|873859|873860|873861|873862|873863|873864|873865|873866|873867|873868|873869|873870|873871|873872|873873|873874|873875|876538|876539|876541|876542|876543", + "text": "Amelogenesis imperfecta, hypomaturation type, IIA3" + }, + { + "baseId": "15273|15277|15278|15279|15280|15281|15282|15284|15286|15287", + "text": "Methemoglobinemia type 2" + }, + { + "baseId": "15274|15275|15276|15285|15288|15289|15290|15291|798115|815836|815837|815838", + "text": "Methemoglobinemia, type I" + }, + { + "baseId": "15283", + "text": "NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM" + }, + { + "baseId": "15284|789808|977297", + "text": "Deficiency of cytochrome-b5 reductase" + }, + { + "baseId": "15292|15293|15294|15295|15296|15297|15298|15299|15300|15301|139203|139204|139205|139208|139210|139211|139212|139213|139214|139215|139216|139217|139218|139219|139220|139221|139222|139223|139224|139225|139226|139228|139229|139230|139231|187973|187974|187975|187976|187978|187980|250968|250969|250971|250975|262034|262035|262036|288985|288989|288990|288994|288999|289717|289718|289736|289737|289740|289741|289742|289744|289748|292706|292719|292735|292745|292757|292759|292768|292777|292778|292971|292972|292973|292979|292990|292991|293016|293035|293036|432247|487043|542797|542798|542803|542805|542808|542809|542812|542813|542815|542951|542956|542964|542971|542973|542977|542983|542987|542991|542992|542993|542995|542996|542997|542999|543000|543001|543002|543003|543005|543007|543009|543010|543011|543012|543014|543016|543018|543019|543020|543024|543025|543026|543028|543030|543032|543035|543036|543038|543040|543047|543049|543052|543055|543059|543061|543062|543064|543065|543068|543069|543071|543073|543077|543087|552070|623133|683544|683546|720219|720220|720222|733843|733846|759237|763662|781572|790339|790340|792734|888054|888055|888056|888057|888058|888059|888060|888061|888062|888063|888064|888065|888066|888067|888068|888069|888070|888071|888072|888073|888074|888075|888076|888077|888078|888079|888080|888081|888082|888083|891577|891578|891579|891580|891581|904908|904909|904910", + "text": "Xeroderma pigmentosum, group C" + }, + { + "baseId": "15297|15298|15301|16033|16034|31605|31615|187973|187975|187980|208243|227299|259252|259693|262035|281797|282419|284079|288952|288959|288962|288963|288985|288989|288995|289707|289712|289736|289741|292653|292656|292665|292703|292885|292907|292911|292973|292975|292979|292990|293006|300294|300321|300324|300332|303027|303077|303106|303110|303140|303145|303147|307462|307472|307507|307584|307608|307626|307722|307743|307798|307800|309055|314262|319623|320876|327922|340564|343775|349077|349972|353260|353261|353538|432247|486987|487043|497233|542815|543019|543068|545011|545299|545337|545406|916903|916904|917127", + "text": "Xeroderma pigmentosum" + }, + { + "baseId": "15302|15303|15304|15305|15306|76406|176018|176020|176021|176022|176023|176161|176162|176163|176164|176165|176166|177676|213225|230664|230665|230666|230667|230668|230670|230671|242519|242521|242522|242523|242524|242525|242528|255914|255916|255917|255918|255921|255922|255924|255926|255929|255933|255934|255935|270915|326486|326488|326490|326494|326498|336292|336294|336295|336300|336302|342502|342505|342507|342510|342512|342516|342523|344144|344146|344148|401355|401359|401877|530607|530876|538457|684631|685426|688670|844420|844426|844428|876059|876060|876061|876062|876063|876064|876065|876066|876067|876068|876069|876070|876071|876724|876725|876726|876727", + "text": "Ciliary dyskinesia, primary, 13" + }, + { + "baseId": "15302|15306|15568|19993|20643|20644|20645|20646|39773|40205|40206|40207|40357|40358|48236|48297|48298|70497|70498|76611|76612|76629|76931|76936|76951|77872|77873|77874|77875|77879|94261|94263|94265|94269|94270|94432|143224|143225|143226|143227|143228|143235|166145|166146|167456|174693|174694|175107|175109|191937|194954|205407|205551|205552|205553|205554|205555|205556|205557|205558|205559|205560|205561|205562|205563|205564|205565|212669|221828|229686|240608|240610|240612|240613|253512|308215|308217|308221|308227|308228|308232|318484|318491|318494|318495|319006|319009|319010|319019|396873|459131|459429|459516|481248|481249|481250|525082|525084|545009|545244|563190|563920|638205|684089|684096|759741|901938|901939|901940|901941|901942|901943|901944|901945|901946|901947|901948|901949|901950|901951|901952|903391|903392|980935|983857", + "text": "Kartagener syndrome" + }, + { + "baseId": 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+ "text": "Primary ciliary dyskinesia" + }, + { + "baseId": 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+ "text": "Dilated cardiomyopathy 1DD" + }, + { + "baseId": 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6860|946861|951342|951343|951344|951345|951346|951347|951348|951349|952599|953734|953735|953736|956030|956031|956032|956033|959026|959027|959028|959931|960534|960959|962129|962130|963098|963099|963100|963101|963102|963103|963104|963104|965296|965297|965312|967122|967123|980666|980668|980672", + "text": "Primary dilated cardiomyopathy" + }, + { + "baseId": 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"baseId": 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+ "text": "Dilated cardiomyopathy 1A" + }, + { + "baseId": "15310|19768|23647|24435|27237|40479|49056|51797|51822|51920|51941|52071|52096|52135|52175|52809|53150|53190|53485|53680|53712|54073|54098|54246|54693|54748|56466|56562|57199|57240|57257|77735|77782|78664|78727|172357|172497|172608|172662|172968|173096|173871|173922|175485|175638|178436|178940|179175|189870|192373|194683|196456|198090|198307|198316|198562|204080|225057|226460|229486|229744|229746|229913|236815|258656|265379|397400|397403|397602|398280|407816|409090|416230|421324|421334|444822|481620|496342|508202|509205|510362|511043|511044|511055|511066|511082|511083|511085|511086|511098|511105|511109|511110|511116|511136|511143|514342|514344|589807|639084|639202|672372|672373|672374|672378|672381|672383|672384|672387|672388|672390|672391|672402|672404|672405|672408|672410|672411|672412|672414|672432|672439|672446|672458|672459|672461|672464|672465|904188|965824", + "text": "Primary familial dilated cardiomyopathy" + }, + { + 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+ "text": "Cardiomyopathy" + }, + { + "baseId": "15312", + "text": "Classic Hodgkin lymphoma" + }, + { + "baseId": "15313|15314|15315", + "text": "Alpha-2-plasmin inhibitor deficiency" + }, + { + "baseId": 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+ "text": "Desbuquois dysplasia 1" + }, + { + "baseId": "15323|15324|15325|15331|15340|15343|15344|15345|15346|15357|106145|106207", + "text": "von Willebrand disease, type 2a" + }, + { + "baseId": 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+ "text": "von Willebrand disorder" + }, + { + "baseId": "15326|15327|15328|15329|15330|15341|15353", + "text": "von Willebrand disease, type 2b" + }, + { + "baseId": "15327|15329|15335|15335|15349|15353|39966|39967|39969|106073|106207|106327|106364|373235|404808|615480|615489|615490|615493|615496|615497|615498|920305|920306", + "text": "von Willebrand disease type 2" + }, + { + "baseId": "15327|15332|15335|25284|25305|106100|106151|106152|106237|106299|213664|360133|446595|611369|615464|615474|615476|615479|615492|615500|615529|615532|615534|615664|615666|615671|615675|615678|615680|615760|615761|615763", + "text": "Abnormality of coagulation" + }, + { + "baseId": "15332", + "text": "VON WILLEBRAND FACTOR POLYMORPHISM" + }, + { + "baseId": "15332|15335|15335|15336|15337|15347|15348|39965|39968|106073|106207|106327|106364|373235|404808|615476|615499|615506|615731|788870|816014|818299|969566|977260", + "text": "von Willebrand disease type 1" + }, + { + "baseId": "15333|15334|15335|15351|15352|15355|15356", + "text": "von Willebrand disease type 2N" + }, + { + "baseId": "15333|15335|15342|19329|19366|26930|27100|27115|28365|29111|29113|31443|33062|87115|99670|106097|106102|106207|106344|138576|171096|171155|186682|186683|186693|195055|206772|209505|209967|210003|227440|227441|268076|272704|277248|281392|286637|290794|290831|304919|333314|334918|344553|350743|360133|361018|361019|411535|445070|459194|496315|496315|538367|538367|543462|552368|615274|615338|615369|615374|615378|615391|615393|615451|615508|615526|615534|615535|615557|615565|615584|615590|615603|615609|615610|615610|615611|615612|615613|615614|615635|615639|615689|615746|615849|615850|615861|615867|621059|684682|701301|709203|718365|795237|795388|796175|797556|848160|860660|870793|882731|889173|889189|904690|958947|976735|976736|976737|976738|976739|976740|976741|976742|976743|976744|976745|976746|976747|976748|976749|976750|976751|976752|976753|976754|976755|976756|976757|976758|976759|976760|976761|976762|976763|976764|976765|976766|976767|976768|976769|976770|976771|976772|976773|976774|976775|976776|976777|976778|976779|976780|976781|976782|976783|976784|976785|976786|976787|976788|976789|976790|976791|976792|976793|976794|976795|976796|976797|976798|976799|976800|976801|976802|976803|976804|976805|976806|976807|976808|976809|976810|976811", + "text": "Abnormal bleeding" + }, + { + "baseId": "15335|106073|106099|106102|106327|106358|106364|373235|404808|611369|615463|615469|615470|615473|615731|615732|615733|615735|615868|791269|964853", + "text": "Von Willebrand disease, recessive form" + }, + { + "baseId": "15335|19194|19329|19366|25463|26162|26930|28365|28568|29111|29113|29121|29197|31079|31956|33062|39810|59386|59387|87115|99670|106102|106344|133499|138563|138576|139302|166055|171096|171155|171928|171929|171930|188069|188069|188070|188070|193571|195055|206772|209505|209967|227440|227441|227504|250588|253731|253742|253743|253744|253745|253748|253749|253751|253752|253753|253755|253758|253759|267766|268076|272704|277248|281392|286637|290794|290831|302629|302639|302677|302692|302700|304919|306034|306062|310140|310163|310166|310168|310169|310173|310175|310181|310182|310188|310190|310191|310193|310197|310210|310716|310720|310790|310795|310979|311014|315193|315228|315253|315270|315283|315284|315293|315295|315297|315299|315301|315306|321249|321267|321292|321303|321306|321770|321798|321916|321927|321931|321932|321943|321944|321954|321957|321964|321970|321971|333314|334918|344553|350743|360133|360836|411535|411535|429062|445070|470586|496315|538367|552368|552368|552369|585411|590073|610162|612061|612066|615338|615346|615419|615422|615423|615432|615433|615434|615435|615436|615437|615438|615439|615455|615456|615457|615458|615550|615552|615553|615554|615559|615560|615562|615564|615570|615591|615592|615597|615598|615599|615600|615602|615610|615616|615618|615619|615626|615627|615628|615631|615634|615635|615635|615636|615638|615640|615641|615642|615644|615645|615647|615648|615660|615714|615716|615721|615853|615863|621059|684682|701301|701302|709203|712315|718365|795237|795388|796175|797556|801073|801087|801117|801118|801119|801128|801171|801204|801205|801206|801207|801208|801209|801210|801211|801226|801252|848160|860660|865801|865802|865803|865804|865805|865806|865807|865808|865809|865810|865811|865812|865813|865814|865815|865816|865817|865818|865819|865820|865821|865822|865823|865824|868470|870793|882731|889173|889189|904690|958947|976735|976736|976737|976738|976739|976740|976741|976742|976743|976744|976745|976746|976747|976748|976749|976750|976751|976752|976753|976754|976755|976756|976757|976758|976759|976760|976761|976762|976763|976764|976765|976766|976767|976768|976769|976770|976771|976772|976773|976774|976775|976776|976777|976778|976779|976780|976781|976782|976783|976784|976785|976786|976787|976788|976789|976790|976791|976792|976793|976794|976795|976796|976797|976798|976799|976800|976801|976802|976803|976804|976805|976806|976807|976808|976809|976810|976811", + "text": "Thrombocytopenia" + }, + { + "baseId": "15336|15337|15338|15342|15354|39965|976584", + "text": "von Willebrand disease type 3" + }, + { + "baseId": "15339|15350|106207|106217|254671", + "text": "von Willebrand disease type 2M" + }, + { + "baseId": "15347", + "text": "von Willebrand factor Vicenza" + }, + { + "baseId": "15347|615738|801067|801135|801136", + "text": "Reduced quantity of Von Willebrand factor" + }, + { + "baseId": "15347|615498|615738|801067|801135|801136", + "text": "Reduced von Willebrand factor activity" + }, + { + "baseId": "15349", + "text": "von Willebrand disease, type 1, susceptibility to" + }, + { + "baseId": "15358|15359|15360|15361|15362|15363|39963|132027|132028|132029|132030|237630|252574|301710|301712|301719|304912|304920|304926|304928|304929|304930|309535|309553|309557|309558|309650|309651|309660|309662|309663|359793|792670|897341|897342|897343|897344|897345|897346|897347|897348|897349|897350|897351|897352|897353|897354|897355|919071", + "text": "Exudative vitreoretinopathy 5" + }, + { + "baseId": "15364|15365|15365|15366|39951|57050|57051|57052|57054|57054|57055|57056|57057|57059|57060|57061|57063|57063|57070|57071|57072|57074|57075|57076|57078|57079|142214|172462|172596|172597|172598|172599|172602|178469|191293|198075|198078|198082|198089|198090|198091|198092|198094|198098|198099|198100|198107|228513|228514|228515|228518|228518|228521|228522|238345|238346|257981|257984|283296|391545|391546|404750|425384|442887|448242|448247|448367|448372|448375|448379|448433|448437|509228|509231|509232|509234|509236|509241|516079|516080|516081|516083|516085|516088|516090|516113|516118|516122|557372|557374|557425|558595|590237|614739|628260|628261|628262|628263|628264|628265|628266|628267|628268|628269|685109|685829|746651|762083|818999|824421|824422|824423|824424|824425|850812|922162|930662|930663|942103|952527|970701", + "text": "Dilated cardiomyopathy 1CC" + }, + { + "baseId": "15365|39950|39951|39951|57050|57051|57051|57052|57054|57055|57056|57057|57059|57060|57061|57063|57070|57071|57072|57074|57075|57076|57078|57079|142214|172462|172596|172597|172598|172599|172602|178469|191293|198075|198078|198082|198089|198090|198091|198092|198094|198098|198099|198100|198107|228513|228514|228515|228518|228521|228522|238345|238346|257981|257984|283296|391545|391546|404750|425384|442887|448242|448247|448367|448372|448375|448379|448433|448437|509228|509231|509232|509234|509236|509241|516079|516080|516081|516083|516085|516088|516090|516113|516118|516122|557372|557374|557425|558595|614739|628260|628261|628262|628263|628264|628265|628266|628267|628268|628269|685109|685829|746651|762083|818999|824421|824422|824423|824424|824425|850812|922162|930662|930663|942103|952527", + "text": "Familial hypertrophic cardiomyopathy 20" + }, + { + "baseId": 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+ "text": "Hereditary sensory and autonomic neuropathy type IIA" + }, + { + "baseId": 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+ "text": "Charcot-Marie-Tooth disease" + }, + { + "baseId": 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+ "text": "Neurofibromatosis, type 1" + }, + { + "baseId": "15375|48599|53763|184559|235823|361009|361010|467795|514075|514077|514081|623635|623636|623637|623638|624836|625836|801168", + "text": "Neurofibromas" + }, + { + "baseId": "15375|186247|361009|433256|581787", + "text": "Optic nerve glioma" + }, + { + "baseId": "15375|48599|178504|222607|263242|361009|361009|361010|361011|361014|426213|514073|514074|514075|514077|514079|514081|514179|514180|551417|551418", + "text": "Neurofibromatosis type 6" + }, + { + "baseId": "15375|48599|186247|361010|361013|514077|514081", + "text": "Axillary freckling" + }, + { + "baseId": "15375|15380|15381|15382|15402|50109|50111|50112|50114|50117|50118|50119|79232|79232|79254|138619|138620|150747|150951|151055|151165|151425|151461|151558|151609|151696|151696|151711|152518|152518|184501|184505|184506|184518|184524|184526|184536|184545|184563|184571|184580|184584|184600|184603|184621|184627|184643|184644|184644|184647|184663|184669|184673|184674|184676|184681|184685|184694|184699|184701|184710|184711|184719|184724|184734|184739|184744|184745|184748|184771|184776|184794|184796|205416|205418|213246|213278|213289|213296|222633|222641|230764|235548|235578|235633|235689|235726|235758|242618|242644|256113|264844|327954|327955|327957|327958|327961|327978|327979|327980|327981|327982|327983|327986|327988|337800|337802|337803|337806|337808|337811|337813|337815|337817|337819|337821|337823|344012|344013|344021|344023|344027|344029|344034|344038|344043|344046|344049|344051|344059|344060|344065|344066|344071|344072|344073|345438|345439|345440|345441|345442|345444|345445|345447|345452|345459|345464|345469|345471|375841|401720|402482|402525|402547|420826|466548|467417|467718|467751|478119|478185|478388|482128|530861|570918|570990|574403|800027|877176|877177|877178|877179|877180|877181|877182|877183|877184|877185|877186|877187|877188|877189|877190|877191|877192|877193|877194|877195|877196|877197|877198|877199|877200|877201|877202|877203|877204|877205|877206|877207|877208|880495|880496|880497|880498|880499", + "text": "Caf\u00e9-au-lait macules with pulmonary stenosis" + }, + { + "baseId": "15375|15382|15388|15397|15398|15407|15408|50109|50111|50112|50114|50117|50118|50119|79232|79254|138619|138620|150747|150951|151055|151165|151425|151461|151558|151609|151696|151696|151711|152518|152518|184501|184505|184506|184518|184524|184526|184536|184545|184563|184571|184580|184584|184600|184603|184621|184627|184643|184644|184644|184647|184663|184669|184673|184674|184676|184681|184685|184694|184699|184701|184710|184711|184719|184724|184734|184739|184744|184745|184748|184771|184776|184794|184796|205416|205418|213246|213278|213289|213296|222633|222641|230764|235548|235578|235633|235689|235726|235758|242618|242644|256113|264844|327954|327955|327957|327958|327961|327978|327979|327980|327981|327982|327983|327986|327988|337800|337802|337803|337806|337808|337811|337813|337815|337817|337819|337821|337823|344012|344013|344021|344023|344027|344029|344034|344038|344043|344046|344049|344051|344059|344060|344065|344066|344071|344072|344073|345438|345439|345440|345441|345442|345444|345445|345447|345452|345459|345464|345469|345471|375841|401720|402482|402525|402547|420826|466548|467417|467718|467751|478119|478185|478388|482128|530861|570918|570990|574403|800027|877176|877177|877178|877179|877180|877181|877182|877183|877184|877185|877186|877187|877188|877189|877190|877191|877192|877193|877194|877195|877196|877197|877198|877199|877200|877201|877202|877203|877204|877205|877206|877207|877208|880495|880496|880497|880498|880499", + "text": "Neurofibromatosis, familial spinal" + }, + { + "baseId": "15375|15382|15389|15390|15391|20091|20092|20093|27619|27621|27622|27623|28363|28364|28365|28366|28367|28368|28368|28369|28370|28371|28372|28373|28375|28376|28377|28378|28379|28940|38779|48247|48599|48957|48959|48972|48982|48983|48983|48998|49010|49026|49028|49028|49029|49029|49032|49040|50109|50118|53766|79232|79254|125841|151055|151461|151558|151696|152518|172332|175345|175398|175540|175854|184644|184663|184694|184701|184734|184744|184776|205418|213278|213296|222633|230257|235548|235689|235758|242618|264844|401720|420826|466548|467417|467718|467751|478388|482128|530861|538420|539096|570918|570990|574403|645561|801168|801197", + "text": "Juvenile myelomonocytic leukemia" + }, + { + "baseId": "15375|15382|15402|15403|15404|39949|49242|50109|50111|50112|50114|50117|50118|50119|79232|79254|138619|138620|150747|150951|151055|151165|151425|151461|151558|151609|151696|151696|151711|152518|152518|184501|184505|184506|184518|184524|184526|184536|184545|184563|184571|184580|184584|184600|184603|184621|184627|184643|184644|184644|184647|184663|184669|184673|184674|184676|184681|184685|184694|184699|184701|184710|184711|184719|184724|184734|184739|184744|184745|184748|184771|184776|184794|184796|205416|205418|213246|213278|213289|213296|222633|222641|230764|235548|235578|235633|235689|235726|235758|242034|242618|242644|256113|264670|264844|327954|327955|327957|327958|327961|327978|327979|327980|327981|327982|327983|327986|327988|337800|337802|337803|337806|337808|337811|337813|337815|337817|337819|337821|337823|344012|344013|344021|344023|344027|344029|344034|344038|344043|344046|344049|344051|344059|344060|344065|344066|344071|344072|344073|345438|345439|345440|345441|345442|345444|345445|345447|345452|345459|345464|345469|345471|375841|401720|402482|402525|402547|420826|466548|467417|467718|467751|478119|478185|478388|482128|530861|538217|570918|570990|574403|800027|877176|877177|877178|877179|877180|877181|877182|877183|877184|877185|877186|877187|877188|877189|877190|877191|877192|877193|877194|877195|877196|877197|877198|877199|877200|877201|877202|877203|877204|877205|877206|877207|877208|880495|880496|880497|880498|880499", + "text": "Neurofibromatosis-Noonan syndrome" + }, + { + "baseId": "15382|15384|15393|79199|79204|79206|151227|184512|184776|222607|222630|230771|235788|401712|402450|422155|433236|514076|538116|574378|806386|806387|806388|806389|806390|806391|806392|806393|806394|806395|806396|806397|806398|806399|806400|806401|806402|806403|806404|806405", + "text": "Tibial pseudoarthrosis" + }, + { + "baseId": "15393|22858|24276|27395|27405|27408|27409|27641|27642|28849|46200|46415|46641|46678|66068|66161|66352|70402|96029|99230|133266|133278|150772|151677|152315|176641|184694|186247|222630|230767|235062|241976|242675|245069|362765|363028|363029|363030|363479|406737|421138|485675|538217|568925|966354|966884|966885|966886|966887", + "text": "Rhabdomyosarcoma (disease)" + }, + { + "baseId": "15414|15420|15425|15426|15427|15428", + "text": "Galactosialidosis, late infantile" + }, + { + "baseId": "15415", + "text": "Galactosialidosis, adult" + }, + { + "baseId": "15415|15416|15417|15418|15419|15420|15422|106589|192221|227690|260848|335561|335568|335569|335570|335572|335575|335576|335580|345317|345324|345326|345331|345340|345347|345353|350015|350018|350021|350022|351036|351040|351042|351043|351045|351048|351049|351052|351053|351056|351057|351060|469372|470407|534117|571253|573555|613167|620659|621643|648720|705507|786383|789390|848430|848431|848432|851851|886160|886161|886162|886163|886164|886165|886166|887461|887462|887463|905963|919915|929201|929202|938987|951109|958851|960318|960941|963081|963082|969192", + "text": "Combined deficiency of sialidase AND beta galactosidase" + }, + { + "baseId": "15422|15423|15424", + "text": "Galactosialidosis, early infantile" + }, + { + "baseId": "15429|15430|15431|15432|15433|18928|18972|176964|177227|177752|181419|251827|251828|296457|296458|296464|296465|296473|296474|296476|296480|296485|296489|296493|296496|296497|298321|298322|298330|298353|298356|298357|298358|298365|298380|298381|298382|298396|298397|298398|298400|302465|302469|302472|302473|302474|302476|302488|302489|302493|302499|302723|302726|302729|302730|302733|302737|302740|302741|302742|302755|302758|302759|302762|302763|302768|302769|302770|362043|362044|520161|547815|612272|633655|734962|830547|893610|893611|893612|893613|893614|893615|893616|893617|893618|893619|893620|893621|893622|893623|893624|893625|893626|893627|893628|893629|893630|893631|893632|893633|893634|893635|893636|893637|893638|893639|893640|964248", + "text": "Tay-Sachs disease, variant AB" + }, + { + "baseId": "15434|39947|39948|57080|57082|57083|57084|57085|57086|57087|57088|57089|57090|57091|57092|57093|57094|57096|57097|57098|57100|57101|57102|57104|57105|57106|57107|57108|57109|57110|57111|57112|57113|57115|176549|176550|176552|176554|176555|176556|176560|176561|176564|176565|176567|176568|176569|176572|176573|176574|176576|176577|176580|176581|176584|176686|176687|176688|176689|176690|176691|176692|176696|176697|176699|176700|176701|176703|176706|176707|176708|176710|176711|176712|176713|176714|176715|176717|176718|176719|176720|176721|176722|188895|191602|193215|195439|230914|230915|230916|230917|230918|230920|230925|230927|230930|230931|230934|230936|230937|230938|230939|230943|230945|230947|230948|230949|230950|230951|230952|230953|230956|230959|230960|230962|230965|230966|230967|230971|237624|256664|256665|256666|256667|265968|266985|270991|271000|271621|273174|274131|275377|331379|331381|331382|331384|331387|331395|331396|331400|331402|331405|331414|341668|341671|341673|341677|341682|341683|341684|341685|341688|341691|341693|341696|341698|341700|341702|341707|341709|341711|341713|341727|347048|347050|347055|347060|347067|347069|347072|347073|347079|347083|347086|347088|347089|347090|348362|348366|348367|348374|348375|348382|348384|348385|348388|348390|348391|348398|348399|348403|348408|348409|389251|404837|404838|410371|445979|492016|497299|497504|497577|497578|497579|497582|497583|497585|497599|497712|497713|497714|497717|497728|513373|514275|538477|548667|548682|549036|586920|620620|620621|620898|654850|654854|654856|654857|654858|654859|654860|654861|656494|669527|677287|727736|727737|741383|741384|741385|741387|756465|756466|756467|756469|756472|760635|772156|772159|772161|772167|772169|772172|772175|772178|772182|772185|772190|776508|776511|785917|785927|785928|785929|785931|788276|793714|800089|800090|802079|806020|857692|861597|879172|879173|879174|879175|879176|879177|879178|879179|879180|879181|879182|879183|879184|879185|879186|879187|879188|879189|879190|879191|879192|879193|879194|879195|879196|879197|879198|879199|879200|879201|879202|879203|879204|879205|879206|879207|879208|879209|879210|879211|879212|879213|879214|879215|879216|879217|879218|879219|880654|880655|880656|880657|880658|880659|970363|970364|970365|970366|970367|970368|979945|979946|979947|979948|979949|979950|979951|979952|979953|979954|979955|979956|979957", + "text": "Deafness, autosomal recessive 77" + }, + { + "baseId": "15435", + "text": "MORM syndrome" + }, + { + "baseId": "15436|15437|15438|15439|16376|70955|106470|131761|131829|133773|134710|134711|134712|134713|134714|134716|134717|134718|134719|134720|134721|134722|134723|134724|135260|152874|177143|178098|190671|191108|191984|192938|195418|196356|198620|198621|198627|207657|207658|214199|214305|214336|214337|221117|250480|253466|253470|253480|253481|265648|307613|307614|307615|307621|307622|307644|307645|307651|307654|307656|307657|311884|311885|311894|311902|317469|317472|317479|317481|317482|317484|317941|317942|317952|317954|317960|317961|317965|317968|317986|317987|317992|362132|362148|368864|394140|397048|622892|626308|641418|685155|685156|687440|692638|751560|788833|790558|790559|790560|790589|790590|790591|790823|790824|791280|791281|791282|791283|791284|791285|791286|835867|856632|901531|901532|901533|901534|901535|901536|901537|901538|901539|901540|901541|901542|901543|901544|901545|901546|901547|903354|919206|919207|920271|974516", + "text": "Joubert syndrome 1" + }, + { + "baseId": "15439|20341|176924|263175|263178|263211|263399|263412|538431", + "text": "16 conditions" + }, + { + "baseId": "15440|810787|970938", + "text": "Paragangliomas 2" + }, + { + "baseId": 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13|936684|941001|941064|943155|943156|943157|943158|943159|943160|943161|943162|943163|943164|943165|943166|943167|943168|947510|947511|947513|947514|947515|947516|948627|948628|948629|948630|948631|953252|953253|953254|953255|953256|956537|956538|980139", + "text": "Hereditary Paraganglioma-Pheochromocytoma Syndromes" + }, + { + "baseId": "15441|15442|15443|15444|15445|255857|326219|326227|326228|326229|326233|326235|335944|335952|335955|335966|335970|335974|342280|342284|342286|342288|342289|342292|342293|342294|343867|343870|343871|343872|343883|343888|343890|343891|426179|466669|547782|547791|547796|547820|547829|547830|547832|547833|547838|547839|548070|548077|548085|548086|548525|548527|548528|548535|548537|581773|644950|644951|715046|715047|726771|726772|726773|731092|755369|771050|771051|785372|785374|787936|820870|844242|875897|875898|875899|875900|875901|875902|875903|875904|875905|875906|875907|875908|875909|875910|875911|875912|875913|875914|876718|937579|957855|957856|960853|966149", + "text": "Tyrosinemia type II" + }, + { + "baseId": "15446|15447|207039|626134|961762|961763|961764", + "text": "Urocanate hydratase deficiency" + }, + { + "baseId": "15448|34155|40570|40571|800831|800841|800842|970791|970792", + "text": "Huntington disease" + }, + { + "baseId": "15449|141372|141373|141374|177401|193726|193727|194522|211571|211572|254360|315365|322214|322215|328321|868889|868890|868891|868892", + "text": "Optic atrophy 7" + }, + { + "baseId": "15450|15680|22564|24628|24661|24693|24694|24695|24696|24697|24699|24700|24701|24705|24707|27796|27797|27799|27800|27801|27802|27803|27804|27805|27807|27808|27809|31914|38852|65567|130979|133699|136140|140698|140701|140702|140703|140704|140705|140706|140707|140708|140709|140710|140711|140712|140713|140724|140725|140996|140997|140998|140999|141000|141576|141579|141582|141583|142780|142781|142782|142783|142784|142785|142786|142787|142788|142789|142790|142791|143089|166197|188296|188297|192465|210756|210759|210760|210761|210765|211358|211368|211777|211818|211821|211868|211962|211976|214391|224694|273255|284180|284182|284184|284185|284196|284198|284204|284205|284209|284210|284218|284219|284235|284237|284243|284245|284246|284248|284254|284936|284943|284945|284953|284960|284961|284963|284968|284972|284973|284974|284975|284976|284977|284979|286854|286873|286874|286880|286882|286886|286888|286892|286894|286899|286901|286902|286903|286904|286906|286912|286913|286917|286928|286941|286943|286961|286964|286969|287284|287285|287286|287289|287290|287291|287293|287309|287310|287315|287318|287328|287331|287338|287339|287340|287343|287345|311923|311937|317580|317603|317617|317632|317640|317643|327260|327264|327266|327269|327280|327281|327284|327291|327302|327303|327308|327310|329333|329334|329336|337088|337095|337104|337105|337109|337111|337115|337118|337121|337123|337129|338573|338576|338577|338584|339604|339606|343314|343316|343318|343320|343321|343324|343327|343328|343329|343332|343334|343338|343341|343352|343354|343357|343360|343363|343364|343366|344879|344880|344881|344883|344885|344888|344890|344891|344894|344901|344908|344909|344910|344912|344913|344914|344916|344918|344921|344924|344928|344941|345348|345356|345358|346741|346742|348160|348162|348165|348167|348169|348592|348594|349671|351824|351825|351827|351828|351830|351831|351832|352678|352679|352680|352681|353373|361580|363720|363881|364235|365162|366093|377583|378069|434458|434657|434658|434658|434758|438041|439243|443142|445696|445696|481178|505921|506644|513340|538463|552063|620050|626225|656402|689294|707969|740562|740571|786642|790159|790160|798710|822313|861128|876766|876767|876768|876770|876771|876772|876773|876774|876775|876776|876777|876778|876779|876780|876781|876782|876783|876784|876785|876786|876787|876788|876789|876790|876791|876792|876793|876794|876795|876796|876797|876798|876799|876800|876801|876802|876803|878105|878106|878107|878108|878109|878110|880311|880312|880313|880463|880464|883477|883478|883479|883480|883481|883482|883483|883484|883485|883486|883487|883488|883489|883490|883491|883492|883493|883494|883495|883496|883497|883498|883499|883500|883501|883502|883503|883504|883505|883506|883507|883508|883509|883510|883511|883512|883513|883514|883515|883516|883517|883518|883519|883520|883521|883522|883523|883524|883525|883526|883527|883528|883529|883530|883531|883532|883533|883534|883535|883536|887245|891500|891501|891502|919759", + "text": "Mitochondrial complex IV deficiency" + }, + { + "baseId": "15450|187971", + "text": "Mitochondrial complex 4 deficiency, nuclear type 8" + }, + { + "baseId": "15451|15452|15453|15454|15455|15456|299596|299597|299610|299611|299616|299617|299622|302139|302140|302141|302143|302151|302160|302163|302164|302165|302176|306547|306548|306551|306552|306554|306565|306815|306816|306835|306841|306847|306859|306861|428599|710325|710326|710327|710328|721875|735529|802160|861086|861625|895665|895666|895667|895668|895669|895670|896214|919021|920226", + "text": "Leukoencephalopathy, cystic, without megalencephaly" + }, + { + "baseId": "15457|15458|15459|15460|190243|303055|303056|303057|306309|306338|306340|311165|311167|311168|311296|311297|311300|311301|369750|434619|523317|578459|636166|636167|710992|833616|833617|833618|833619|833620|898108|898109|898110|898111|898112|898113|898114|898115|924856|933891|945637|955160", + "text": "Glycogen storage disease type X" + }, + { + "baseId": "15461|15462|15463|626073", + "text": "Mitochondrial complex 1 deficiency, nuclear type 18" + }, + { + "baseId": "15464|360473", + "text": "Autosomal dominant macrothrombocytopenia TUBB1-related" + }, + { + "baseId": "15464|19193|28568|28570|31079|51193|51196|51197|51198|572347|612063|612487|615337|615338|615548|615549|615550|615551|615555|615556|615558|615559|615561|615563|615564|615567|615574|615588|615589|615593|615594|615595|615596|615599|615601|615617|615619|615620|615621|615622|615623|615624|615625|615629|615630|615638|615643|615644|615648|615650|615651|615654|615656|615658|615661|615715|615717|615745|615854|615864|615867|801081|801139|801201|801212|801213|801214|801215|801516", + "text": "Macrothrombocytopenia" + }, + { + "baseId": "15465|15466|15467|48319|48320|48321|94456|168559|168560|168561|168562|168566|168567|168569|168570|207401|237813|369100|415045|424603|428611|428613|486744|551295|679749|788799|855107|964273|964274|970830", + "text": "Polymicrogyria, asymmetric" + }, + { + "baseId": "15468|15469", + "text": "MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2" + }, + { + "baseId": "15470|140691|140692|140693|140694|140695|140696|190089|211720|211721|211723|211724|211727|325944|325945|325947|335545|335551|335554|335555|335589|335599|335604|335606|342019|342021|342027|342028|343531|375490|875597|875598|875599|875600|875601|875602|875603|875604|875605|875606|876688|876689", + "text": "Coenzyme Q10 deficiency, primary, 5" + }, + { + "baseId": "15471|15473|15474|15475|15476|84886|94529|94530|105940|105941|105942|105944|105946|105948|105957|105961|105964|105965|105969|105970|105971|105972|105973|105974|105977|105978|105980|105990|105993|106000|186635|186636|237147|267156|271717|281384|281390|281393|281396|281397|281399|282007|282008|282009|282021|282023|282025|282026|282038|282044|282054|283300|283305|283337|283338|283342|283345|283359|283443|283444|283446|283449|283459|283490|283491|283499|283500|283509|283520|283522|357148|357149|357150|357151|357152|357153|357154|357155|357156|357157|357158|357159|357160|357161|357162|357163|357164|357165|357166|357167|357168|357169|357170|357171|357172|357173|357174|357175|357176|357177|357178|357179|357180|357181|357182|357183|357184|357185|357186|442900|486871|494099|541312|541325|541328|541339|541341|541344|541346|541349|541350|541352|541354|541375|541377|541381|541382|541385|541391|541394|541398|541399|541401|541410|541411|541413|541415|576559|620020|620021|621090|621091|794751|801600|864881|864882|864883|864884|864885|864886|864887|864888|864889|864890|864891|864892|864893|864894|864895|864896|864897|864898|864899|864900|864901|864902|864903|864904|864905|864906|865224|865235|865236|865237|865238|868425|868426|868427|961751", + "text": "Dihydropyrimidine dehydrogenase deficiency" + }, + { + "baseId": "15471|15472|94529", + "text": "Fluorouracil response" + }, + { + "baseId": "15471|28870|28946|28951|28959|28960|28961|28962|28963|28964|28965|28966|28971|28975|28976|28977|28978|28979|28986|28991|28993|28994|36221|36228|36269|36275|36287|36305|45384|45386|50165|50278|50282|50284|50285|101890|101891|101892|136461|136472|138345|138726|138849|138926|138928|138929|139807|139815|139817|139819|139827|139828|139830|139833|166578|166579|166580|171125|182944|182948|182956|182958|186117|188092|188093|188094|188095|188096|188097|188098|188099|188100|188101|188102|188103|188104|209431|212767|212783|212784|212794|215301|221946|240788|240790|240797|240802|263835|263836|263839|263840|263841|263842|263843|263844|263845|263846|263847|263848|271973|310269|310270|310276|310293|310303|310309|310315|310330|310333|310334|315391|315392|315393|315394|315397|315411|315412|315418|315419|321369|321370|321384|321385|321388|321398|321411|321412|321415|321417|321419|321420|321423|322066|322103|322120|322142|322160|322161|322168|358824|358829|362046|362047|362048|362049|397269|397444|397680|397699|459817|460008|460025|460251|460316|460325|460677|460686|475107|525176|539281|569630|569655|581736|654156|679770|836830|858560|865863|865864|865865|865866|865867|865868|865869|865870|865871|865872|865873|865874|865875|865876|865877|865878|865879|865880|865881|865882|868471|868472", + "text": "Hirschsprung disease 1" + }, + { + "baseId": "15471|94529", + "text": "capecitabine response - Toxicity/ADR, Metabolism/PK" + }, + { + "baseId": "15471|94529", + "text": "fluorouracil response - Toxicity/ADR, Metabolism/PK" + }, + { + "baseId": "15471|94529", + "text": "Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK" + }, + { + "baseId": "15471|94529", + "text": "tegafur response - Toxicity/ADR, Metabolism/PK" + }, + { + "baseId": "15471|28310|590069", + "text": "22 conditions" + }, + { + "baseId": "15477", + "text": "LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b)" + }, + { + "baseId": "15478", + "text": "AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b)" + }, + { + "baseId": "15479|15480|15481|15482", + "text": "BLOOD GROUP--LUTHERAN NULL" + }, + { + "baseId": "15483|227369|255242|255243|255244|255245|255246|260069|538443|906177|961030|963172", + "text": "Thyroglobulin synthesis defect" + }, + { + "baseId": "15484|15485|15486|15487|15488|15489|256709|256710|256711|256712|256713|332019|332020|332025|332026|332027|332029|332030|332031|332033|332044|332048|332052|332053|332056|332059|332061|332070|332078|332083|332090|332095|332096|332104|332106|332109|332113|332117|332119|332133|332134|332136|332142|342221|342223|342225|342227|342230|342232|342234|342235|342236|342240|342242|342243|342246|342249|342250|342253|342255|342257|342259|342260|342261|342265|342267|342268|342278|342281|342283|342296|342298|342299|342302|342309|342310|342313|347624|347627|347636|347639|347640|347644|347649|347651|347655|347656|347659|347660|347667|347668|347673|347679|347684|347687|347688|347693|347694|347695|347696|347702|347703|347711|347712|347713|347714|347717|347727|347728|347729|347732|347733|348979|348981|348983|348991|348995|349003|349004|349005|349011|349014|349015|349019|349027|349029|349031|349039|349043|349052|349060|349066|349068|349070|349078|349080|349084|349087|349088|349094|349096|507407|513543|578427|614452|620902|704641|727761|756497|772236|791879|800092|879600|879601|879602|879603|879604|879605|879606|879607|879608|879609|879610|879611|879612|879613|879614|879615|879616|879617|879618|879619|879620|879621|879622|879623|879624|879625|879626|879627|879628|879629|879630|879631|879632|879633|879634|879635|879636|879637|879638|879639|879640|879641|879642|879643|879644|879645|879646|879647|879648|879649|879650|879651|879652|879653|879654|879655|879656|879657|879658|879659|879660|879661|879662|879663|879664|879665|879666|879667|879668|879669|879670|879671|879672|880671", + "text": "Hennekam lymphangiectasia-lymphedema syndrome 1" + }, + { + "baseId": "15490|15491|15493|15494|15495|15497|15498|15499|15500|15501", + "text": "Coproporphyria" + }, + { + "baseId": "15492|15496|131973", + "text": "Harderoporphyria" + }, + { + "baseId": "15498|291807|291809|291810|291814|291816|291818|291820|291821|291823|291828|291830|291834|291835|293138|293139|293140|293142|293174|293175|293176|293190|293193|293194|293195|293197|293200|293201|296460|296461|296463|296470|296471|296472|296475|296477|296478|296481|296483|296484|296486|296488|296490|296491|296499|296500|296501|296503|296504|296513|296517|296518|296519|296523|790424|859316|889793|889794|889795|889796|889797|889798|889799|889800|889801|889802|889803|889804|889805|889806|889807|889808|889809|889810|889811|889812|889813|889814|891715|891716|891717|891718", + "text": "Hereditary coproporphyria" + }, + { + "baseId": "15502", + "text": "Coproporphyria, digenic" + }, + { + "baseId": "15503|15504|15505|15507|15508|15509|15510|15511|15512|15513|15514|17204|39935|39936|39937|186775|186776|186777|186778|186779|186780|193362|215107|215108|253252|253253|269611|271344|306261|306263|306270|306277|306279|306282|306286|306292|310376|310379|310381|310397|310401|310402|310403|310410|315742|315744|315747|315748|315749|315751|315813|315814|315815|315816|315824|315833|315835|315836|357757|357758|357759|357760|357761|357762|357763|372045|372053|404779|425807|487350|492840|493102|493140|502082|502550|544597|544913|545016|545019|545026|545030|545031|545037|545101|545119|545135|545136|545139|545141|545143|545147|584887|586526|621289|736795|736796|736797|766968|766969|766970|766971|766972|766973|783198|783203|820034|820035|900668|900669|900670|900671|900672|900673|900674|900675|900676|900677|900678|900679|900680|900681|900682|900683|900684|900685|900686|900687|900688|900689|903279|917027|925308|925309|934489|940120|940917|955618|972024|972025|972026|972027|978505|978506|978507|978508|980931", + "text": "Hereditary fructosuria" + }, + { + "baseId": "15515|15516|15518|15519|15520|15522|15523|15524|15525|15667|15670|108502|312401|312403|325159|357930|359860|359983|425904|460885|461217|461692|461694|461696|513619|525902|545404|545410|545411|545413|545415|545417|545418|545420|545750|545752|545763|545767|545769|545772|545777|545818|545821|545827|545828|545830|545831|545837|545840|546044|546058|546064|546066|546069|546072|546073|546079|546083|639714|639715|639716|652488|737727|768205|775753|775775|783871|801690|820336|820337|837961|837962|867050|867051|867052|867053|867054|867055|867056|867057|935382|970226|970227", + "text": "BH4-deficient hyperphenylalaninemia A" + }, + { + "baseId": "15516|15517|15521|15522", + "text": "Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency" + }, + { + "baseId": "15518|15520|312403|737727|775775|837961|867051|978861|978862|978863", + "text": "6-Pyruvoyl-tetrahydrobiopterin synthase deficiency" + }, + { + "baseId": "15526|15527|150469|708756|708757|980450|981427|981428", + "text": "Riddle syndrome" + }, + { + "baseId": "15528|15529|15530|15531|15532|15533|15534|251370|270628|292888|292890|292895|292899|292904|292905|292914|294253|294254|294256|294257|294261|294264|294269|294271|297721|297724|297793|297796|297802|297806|297811|453349|453831|496317|508792|508793|520077|559635|559790|561976|612268|614643|632091|651144|790458|790459|790460|828959|851496|890472|890473|890474|890475|890476|890477|890478|890479|890480|890481|890482|890483|943902|943903|959718", + "text": "Dihydropteridine reductase deficiency" + }, + { + "baseId": "15535|15536|15537|15538|15539|15540|135604|224972|224973|380216|578353|578354", + "text": "Mitchell-Riley syndrome" + }, + { + "baseId": "15536|22745|23707|34055|136364|167531|168864|168868|168869|168874|168875|195995|211069|281461|299130|372861|421907|444937|758701|801165|905057|905058|905059|905060|906381|906382|906383|906384|906385|906386|906387|906388|906389|906390|906391", + "text": "Diabetes mellitus" + }, + { + "baseId": "15542|15543|15544|77877|77878|94432|99370|174339|174340|174341|174342|174477|174479|174480|190293|194332|194333|212517|229378|229380|229381|229382|229383|252064|298814|298815|301269|301270|301274|301275|301276|305665|305670|305772|305773|305775|305784|305786|305797|434602|455807|521959|634516|683757|895224|895225|895226|895227|895228|895229|895230|895231|895232|895233|895234|895235|895236|895237|895238|895239|895240", + "text": "Ciliary dyskinesia, primary, 11" + }, + { + "baseId": "15545|15546|15548|15549|15550|15552|237250|253110|253111|253112|253113|253114|253115|253117|253118|253119|253120|253121|253122|253124|253125|253126|253127|253128|253129|253130|253132|253133|253134|253135|253136|253137|253138|253139|253140|253141|253142|253143|305249|305250|305258|305260|305267|305272|305279|305291|305295|305302|305304|305308|305309|305310|305312|305318|305323|305327|305330|309065|309068|309070|309073|309075|309076|309078|309084|309087|309091|309110|309117|309121|309136|309152|309153|309154|309159|309161|309162|309163|309167|314271|314274|314286|314288|314292|314293|314299|314300|314328|314329|314330|314332|314339|314341|314346|314351|314359|314368|314371|314372|314374|314375|314376|314383|314384|314385|314386|314387|314388|314390|314391|314392|314398|314399|314400|314402|314407|314409|314410|314411|314412|314413|314415|314417|314423|314424|314425|314426|360899|535247|535248|535249|535250|535251|609693|609694|609696|609698|711527|711530|723086|723087|723093|736649|736650|736654|751139|751140|751148|751154|751155|766806|775249|777707|777758|790800|799539|799540|799541|799542|799543|799544|799545|799546|799547|799548|799549|818256|899535|899536|899537|899538|899539|899540|899541|899542|899543|899544|899545|899546|899547|899548|899549|899550|899551|899552|899553|899554|899555|899556|899557|899558|899559|899560|899561|899562|899563|899564|899565|899566|899567|899568|899569|899570|899571|899572|899573|899574|899575|899576|899577|899578|899579|899580|899581|899582|899583|899584|899585|899586|899587|899588|899589|899590|899591|899592|899593|899594|899595|899596|899597|899598|899599|899600|899601|899602|899603|899604|899605|899606|900493|900494|900495|900496|900497|900498|900499|919153|961857|967231|981626|981627|981628|981629|981630|981631|981632|981633|981634|981635|981636|981637|981638|981639|981640|981641|981642|981643|981644|981645|981646|981647|981648", + "text": "Spherocytosis type 1" + }, + { + "baseId": "15546|15547|15551|15552|15553", + "text": "Spherocytosis, type 1, autosomal recessive" + }, + { + "baseId": "15555|15556|15557|141827|200127|226902|227302|300924|300928|300929|300933|303860|303862|303871|303875|303876|303878|303882|303883|303891|308509|308516|308532|308550|308561|308562|308563|308566|369159|369165|434613|438330|443978|501400|522143|563682|635126|635127|635128|635129|672068|765800|788804|832283|832284|832285|832286|832287|832288|896780|896781|896782|896783|896784|896785|896786|896787|896788|896789|896790|900259|900260|933430|945135", + "text": "Methylmalonic aciduria and homocystinuria type cblF" + }, + { + "baseId": 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48|892849|892850|892851|892852|892853|892854|892855|892856|892857|892858|892859|892860|892861|892862|892863|892864|896026|896027|896028|923749|923750|923751|923752|923753|923754|923755|923756|923757|923758|923759|923760|923761|923762|923763|923764|923765|923766|923767|923768|923769|923770|932611|932612|932613|932614|932615|932616|932617|932618|932619|932620|932621|932622|932623|932624|932625|939978|944285|944286|944287|944288|944289|944290|944291|953942|953944|953945|953946|953947|953948|953949|953950|953951|953952|959745|965440|966344|977207|977208", + "text": "Congenital contractural arachnodactyly" + }, + { + "baseId": "15568|101787|101788|101789|101790|175940|190557|192499|205407|213109|213111|222368|222369|222371|230527|230529|230531|230532|241844|241846|241847|254957|254958|254959|254960|254964|254965|254966|320641|320642|320643|320648|329433|329435|329436|329450|329451|329456|329457|335996|336009|336011|336020|337969|337974|337977|337981|399648|620482|693497|791409|871893|871894|871895|871896|871897|871898|871899|871900|871901|871902|871903|871904|871905|871906|871907|871908|871909|871910|871911|871912", + "text": "Ciliary dyskinesia, primary, 10" + }, + { + "baseId": "15570|15571|15572|40264|40265|40266|40267|134334|134335|134336|134337|134338|134339|189063|205728|209327|213527|282811|282818|282830|282831|282833|282834|282838|282841|282843|282844|282846|282851|282859|282861|283624|283626|283628|283630|283632|283635|283636|283637|283648|283654|283655|283663|283665|283666|283672|285150|285154|285156|285161|285168|285170|285171|285172|285175|285176|285183|285189|285190|285201|285202|285203|285657|285658|285659|285660|285662|285663|285664|285675|285707|285709|285712|285732|285733|285734|285741|285742|285754|285756|285757|285758|438178|537368|557694|558913|620937|628991|628992|628993|628994|683419|685920|685922|790127|792723|825211|881548|881549|881550|881551|881552|881553|881554|881555|881556|881557|881558|881559|881560|881561|881562|881563|881564|881565|881566|881567|881568|881569|881570|881571|881572|881573|881574|881575|881576|881577|881578|881579|881580|881581|881582|881583|881584|881585|881586|882845|882846|882847|922410|930976|930977|930978|942407", + "text": "Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities" + }, + { + "baseId": "15573|15574|15575|15576|15577|15578|99509|99515|99521|99524|116527|140950|140956|140959|140963|140964|140965|140966|140968|140969|140970|140975|152820|152830|177110|177373|191520|191778|191986|192093|192826|192827|192896|193097|193098|193099|193777|194347|205152|205153|238032|247005|265562|266046|271533|274143|300904|300912|303823|303824|303831|303833|303846|308450|308477|308508|308531|389200|406887|406889|431696|431697|431705|431712|431714|438326|486397|512912|513965|543884|543888|543895|543897|543900|543902|543908|543910|543915|543921|543937|543952|543956|544194|544201|544203|544208|544217|544229|544240|544272|544275|544278|544280|544282|544284|544286|544292|544296|544302|544303|551546|551548|551549|551550|551551|551552|551608|551621|551622|551623|551624|590282|590283|610616|610617|611354|623294|623295|710580|710583|730434|735720|735721|735722|735726|744294|750154|765772|765774|765781|765785|765790|777640|782608|782625|782628|790645|790646|790647|790648|790649|790650|790651|790652|790653|790654|790655|790656|799448|799449|799450|799451|800356|818251|818252|832163|832169|832183|832190|832191|832208|832218|832219|832227|832229|832254|832263|832269|832276|852028|970836|980330|981552", + "text": "Retinitis pigmentosa 25" + }, + { + "baseId": "15579|15580|39914|39915|39916|136044|136045|136046|136047|141380|141381|141382|200166|200167|200168|200169|200170|200172|215388|267661|305828|305830|305831|305833|305837|305839|305840|305842|309911|309912|309913|309919|309927|315124|315128|315129|315132|315133|315134|315216|315219|315222|315223|315225|315229|315232|315233|315234|315235|315238|315245|315246|369567|407452|457964|458527|458528|458604|481492|502786|524025|561847|565210|565212|565213|568096|620304|637387|637388|637389|736749|798605|819985|835030|835031|835032|835033|835034|835035|835036|835037|900001|900002|900003|900004|900005|900006|900007|900008|900009|900010|900011|900012|900013|900014|900015|900016|900017|900516|925259|925260|934417|934418|955499", + "text": "Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2" + }, + { + "baseId": "15582|15583|15584|15585|53206|53207|53208|174808|230229|230234|230235|230237|315088|315089|315090|315091|315096|315099|315108|315109|315113|315115|315116|315117|315123|315125|321908|321909|321913|321914|321922|321924|321926|321929|327985|327987|327996|328003|328009|329098|329102|329112|329130|329138|329140|329149|329150|329158|329159|329164|329176|329179|329194|578494|615815|620419|620836|868756|868757|868758|868759|868760|868761|868762|868763|868764|868765|868766|868767|868768|868769|868772|868773|868774|868775|868776|868777|868778|868779|872135", + "text": "Deafness, autosomal recessive 63" + }, + { + "baseId": 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+ "text": "Rare genetic deafness" + }, + { + "baseId": "15586|140308|211343|359159|359160|359161|359163|359164|917814|917815|919178", + "text": "Mitochondrial complex 1 deficiency, nuclear type 17" + }, + { + "baseId": "15587|15588|15589|15590|15591|15592|15593|15594|15595|15596|15597|15598|15599|15601|39908|256682|256683|331767|331768|331771|331776|331785|331790|331792|331793|331795|331798|331801|331802|331805|331808|331810|331814|331816|331828|331829|331831|331834|331837|331842|331846|331850|331853|331873|331875|331895|331897|331901|342058|342061|342062|342065|342067|342069|342079|342080|342083|342084|342090|342091|342094|342095|342097|342099|342102|342103|342110|342113|342114|342120|342124|342126|342128|342132|342134|342145|347435|347436|347439|347442|347443|347444|347448|347449|347453|347454|347455|347459|347462|347463|347465|347466|347470|347475|347476|347479|347482|347483|347485|347487|347490|347492|348769|348770|348778|348781|348782|348783|348786|348787|348789|348791|348792|348795|348797|348798|348801|348803|348807|348808|348811|348812|348813|348814|348823|348824|348829|348844|348846|348848|348853|348854|348857|348862|348865|348866|348868|348873|348874|348875|362176|612137|620623|620624|791873|791874|791875|880678|880679|980384", + "text": "Protoporphyria, erythropoietic, 1" + }, + { + "baseId": "15589|15601|214205|214208|214224", + "text": "Jaundice" + }, + { + "baseId": "15589|15601", + "text": "Erythema" + }, + { + "baseId": 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+ "text": "-" + }, + { + "baseId": "15601|918495", + "text": "Autosomal erythropoietic protoporphyria" + }, + { + "baseId": "15602|15603|15604|15605|15606|15607|15608|39903|39904|39905|39906|48469|48470|135781|135782|135783|135784|135785|135786|135787|135788|135789|135790|135791|135792|135793|135794|195391|207790|271254|271405|271522|310633|310635|310636|310637|310641|310643|315867|315875|315881|315882|315887|315895|315904|321917|321920|321921|321933|321945|321949|321950|321951|321961|321962|321963|321966|321987|322638|322639|322640|322642|322643|460129|460135|460506|525350|525359|525371|525373|525447|525453|525566|525567|525785|563923|563926|563931|563933|564730|566449|566454|566463|566464|566470|566471|566475|569414|586654|586769|624410|639125|639126|639127|639128|639129|639130|639131|639132|639133|639134|639135|639136|639137|639138|639139|652007|701424|724048|724049|724050|724051|730704|737572|737573|752217|759960|783672|837183|837184|837185|837186|837187|837188|837189|837190|837191|837192|866101|866102|866103|866104|866105|866106|866107|866108|866109|866110|866111|866112|866113|903570|925911|935147|935148|935149|935150|940964|947027|947028|956150|956151|956152|956153|983773", + "text": "Histiocytosis-lymphadenopathy plus syndrome" + }, + { + "baseId": "15609|15610|140303|359158|361116|550094|788935|791972|800167", + "text": "Mitochondrial complex 1 deficiency, nuclear type 16" + }, + { + "baseId": "15611", + "text": "Kininogen deficiency, total" + }, + { + "baseId": "15612|15613|15614|227257", + "text": "High molecular weight kininogen deficiency" + }, + { + "baseId": "15615|15616|15617|15618|15619|15620|15621|15622|15623|15624|15625|15626|15627|15628|15629|15630|15631|15632|15633|15634|15635|15636|15637|15638|15639|15640|15641|15642|15643|15644|15645|15646|15647|15648|15649|15650|15651|15652|15653|15654|15655|15656|15657|15658|15659|15660|15661|15662|15664|15665|15666|15667|15668|15669|15670|15671|15672|15673|15674|15675|15676|15678|98634|98636|98637|98638|98639|98641|98643|98644|98645|98647|98648|98649|98650|98651|98653|98654|98655|98656|98657|98658|98659|98660|98662|98663|108195|108199|108204|108211|108212|108213|108218|108219|108220|108223|108225|108227|108228|108234|108236|108237|108239|108240|108242|108243|108245|108246|108250|108253|108254|108257|108260|108261|108262|108264|108266|108267|108271|108272|108273|108274|108277|108278|108279|108280|108281|108283|108285|108286|108289|108290|108291|108292|108293|108296|108297|108301|108302|108303|108304|108305|108307|108308|108309|108312|108313|108316|108317|108319|108320|108322|108324|108325|108326|108328|108330|108331|108332|108333|108336|108337|108338|108340|108341|108342|108343|108344|108345|108347|108349|108352|108354|108355|108356|108357|108358|108359|108361|108362|108368|108369|108373|108374|108375|108378|108380|108381|108383|108385|108386|108388|108390|108391|108392|108394|108396|108397|108398|108399|108400|108401|108402|108403|108405|108406|108407|108408|108410|108413|108416|108420|108421|108422|108423|108425|108429|108430|108432|108433|108434|108436|108437|108438|108439|108441|108442|108443|108448|108450|108451|108452|108454|108456|108457|108458|108459|108460|108462|108463|108465|108467|108469|108470|108471|108472|108473|108474|108476|108477|108478|108479|108480|108482|108483|108485|108487|108488|108489|108492|108493|108494|108495|108498|108499|108501|108502|108503|108504|108505|108506|108508|108509|108513|108515|108518|108520|108522|108524|108525|108528|108529|108531|108532|108536|108537|108539|108540|108541|108542|108543|108546|108547|108549|108550|108551|108552|108553|108554|108557|108559|108560|108566|108567|108568|108569|108570|108572|108575|108576|108577|108578|108579|108580|108582|108585|108586|108587|108588|108589|108590|108591|108592|108593|108596|108598|108599|108602|108605|108607|108608|108609|108610|108612|108613|108615|108616|108617|108618|108620|108621|108622|108623|108624|108625|108628|108630|108633|108635|108636|108637|108638|108640|108641|108643|108646|108647|108648|108649|108650|108651|108652|108653|108654|108657|108658|125851|125852|125853|125854|125855|125856|125857|125858|125859|125860|125861|125862|125863|125864|125865|125866|125867|125868|125869|125870|125871|125872|125873|125874|125875|125876|125877|125878|125879|125880|125881|125882|125883|125884|125885|125886|125887|125888|125889|125890|125891|125892|125904|130974|136994|137051|186846|186847|191324|194286|200222|200225|204453|204454|204455|204456|227027|227028|227029|227030|254389|265310|270899|315838|315842|322931|322933|329001|329002|329008|329009|330196|330201|330203|353207|358082|358083|358084|358085|358086|358087|358088|358089|358090|358091|363815|408504|421894|432709|432710|440021|440042|461766|461793|461795|462148|462155|462157|487329|504093|526605|526617|526628|546568|546570|546573|546577|546582|546587|546590|546596|546598|546604|546605|546619|546620|546621|546629|546632|546804|546816|546818|546819|546821|546823|546833|546837|546890|546898|546905|546906|546907|546913|546916|546923|546925|546926|546931|546934|547131|547139|547142|547146|547151|547154|547160|547165|547168|547170|564992|566303|567645|571177|576255|576256|576257|581278|581708|610543|610544|610545|610546|610547|610548|610549|610550|610551|610552|610553|610554|610555|610556|610557|610558|610559|610560|610561|610562|611103|611986|613618|613619|613620|613621|613622|613623|614606|623049|623050|640583|640584|640585|640586|640587|640588|652164|652393|652620|693132|702061|724841|738395|738396|738397|753050|768865|768866|768868|778019|784255|791187|791188|791189|794119|794120|794121|794122|794123|794124|794125|794126|794127|794128|794129|794130|794131|794132|794133|794134|794135|794136|794137|794138|794139|794140|794141|794142|794143|794144|794145|794146|794147|794148|820439|820440|839250|839251|839252|852429|852430|852653|860992|860993|860994|860995|860996|860997|860998|860999|861000|861001|861002|861003|861004|861005|861006|861007|861008|869140|869141|869142|869143|869144|869145|869146|869147|869148|872177|917098|920555|920556|920557|920558|920559|920560|920561|920562|920563|920564|920565|920566|920567|920568|920569|920570|920571|920572|920573|920574|920575|920576|920577|920578|920579|920580|920581|920582|920583|926446|926447|926448|926449|926450|935899|935900|940239|947770|956735|956736|956737|956738|972616|975726|975727|975728|975729|975730|975731|975732|975733|975734|975735|975736|975737|975738|975739|975740|975741|975742|975743|975744|975745|975746|975747|975748|975749|975750|975751|975752|975753|975754|975852|975879|975880|975881|975882|975883|975884|975885|975886|975896|979255|979256|979257|979258|979259|979260|979261|979262|979263|979264|979265|979266|979267", + "text": "Phenylketonuria" + }, + { + "baseId": "15622|15625|15632|15656|15657|15663|15664|15667|15669|15670|15671|15672|15677|15678|98641|98657|98658|108462|108488", + "text": "Hyperphenylalaninemia, non-pku" + }, + { + "baseId": "15655|15666", + "text": "Mild non-PKU hyperphenylalanemia" + }, + { + "baseId": "15667|237522|406083|406687|424694|428391|514326|540506|550579|550587|550621|550636|550742|626435|677338|677339|677340|677341|677342|677343|677344|677345|677346|677347|677348|677349|677350|677351|677352|677353|677354|677355|677356|677357|677358|677359|677360|677361|677362|677363|677364|677365|677366|677367|677368|677369|677370|677371|677372|677373|677374|677375|677376|677377|677378|677379|677380|677381|677382|677383|677384|677385|677386|677387|677388|677389|677390|677391|677392|677393|677394|677395|677396|677397|677398|677399|677956", + "text": "Marfanoid habitus and intellectual disability" + }, + { + "baseId": "15671", + "text": "Hyperphenylalaninaemia" + }, + { + "baseId": "15679|613488", + "text": "Endocrine-cerebroosteodysplasia" + }, + { + "baseId": "15680|361580|788673|788674|788675|858628|858629", + "text": "Combined oxidative phosphorylation deficiency 44" + }, + { + "baseId": "15681|28349|29054|33100", + "text": "Ischemic stroke, susceptibility to" + }, + { + "baseId": "15681", + "text": "Budd-Chiari syndrome, susceptibility to" + }, + { + "baseId": "15681|558220|610573", + "text": "Recurrent abortion" + }, + { + "baseId": "15681|15681|15685|15686|15687|15688|15689|15690|15691|15692|15693|38307|227743|249498|249500|249502|249503|249504|249505|249506|249507|249508|249510|249511|249512|249513|249514|249515|249516|249517|249518|249520|249521|249522|249523|249524|249525|249526|277166|277168|277179|277180|277191|277192|277194|277195|277214|277219|277220|277221|277222|277225|277248|277249|277250|277252|277253|277254|277257|277260|277261|277262|277263|277270|277272|277273|277294|277416|277422|277423|277427|277428|277435|277443|277444|277452|277454|277458|277459|277466|277467|277468|277471|277472|277474|277480|277482|277486|277489|277492|277494|277498|277504|277505|278219|278222|278240|278256|278260|278261|278262|278263|278264|278267|278268|278269|278270|278271|278278|278280|278281|278288|278289|278291|278295|278297|278298|278305|278307|278309|278310|278312|278316|278317|278318|278325|278328|278329|278330|278332|278334|278336|278338|278340|278341|278342|278343|278350|278351|278352|278360|278364|278373|278374|278383|557032|558220|558220|615275|615276|615278|615279|615280|615281|615282|615283|615284|615285|615286|615287|615288|615289|615290|615291|615718|619964|627058|654174|706851|706852|706853|718361|718365|718366|718368|718369|718370|718372|718374|731854|731855|731856|743730|745824|745828|745830|745832|777016|778749|788955|862698|862699|862700|862701|862702|862703|862704|862705|862706|862707|862708|862709|862710|862711|862712|862713|862714|862715|862716|862717|862718|862719|862720|862721|862722|862723|862724|862725|862726|862727|862728|862729|862730|862731|862732|862733|862734|862735|862736|862737|862738|862739|862740|862741|862742|862743|862744|862745|862746|862747|862748|862749|862750|862751|862752|862753|865026|865027|865028|966342", + "text": "Factor V deficiency" + }, + { + "baseId": "15681|15681|15683|15684|15694|38307|249497|249498|249500|249501|249503|249504|249505|249506|249507|249508|249509|249510|249511|249512|249513|249514|249515|249516|249517|249518|249519|249520|249521|249522|249523|249524|249525|249526|277166|277168|277179|277180|277191|277192|277194|277195|277214|277219|277220|277221|277222|277225|277248|277249|277250|277252|277253|277254|277257|277260|277262|277263|277270|277272|277273|277294|277416|277422|277423|277427|277428|277435|277443|277444|277452|277454|277458|277459|277466|277467|277468|277471|277472|277474|277480|277482|277486|277489|277492|277494|277498|277504|277505|278219|278222|278240|278256|278260|278261|278262|278263|278264|278267|278268|278269|278270|278271|278278|278280|278281|278288|278289|278291|278295|278297|278298|278305|278307|278309|278310|278312|278316|278317|278318|278325|278328|278329|278330|278332|278334|278336|278338|278340|278341|278342|278343|278350|278351|278352|278360|278364|278373|278374|278383|558220|615287|619964|706851|718365|862698|862699|862701|862702|862703|862704|862705|862706|862707|862708|862709|862710|862711|862712|862713|862714|862715|862717|862718|862719|862721|862722|862724|862726|862728|862732|862736|862737|862738|862739|862740|862743|862744|862746|862750|862751|862752|862753|865026|865027", + "text": "Thrombophilia due to factor V Leiden" + }, + { + "baseId": "15682", + "text": "Factor V Hong Kong" + }, + { + "baseId": "15695|15696|15698|15700|15701|15705|15707|15708|15709|15710|15711|15712|15713|15714|15716|15717|15718|15719|171062|171063|171064|171065|171066|171067|171068|171069|171070|171071|185963|221115|227218|227219|238360|238361|238362|238363|250153|250154|250155|281801|281808|281809|281820|282432|282437|282438|282458|282459|282462|282463|284085|284086|284285|284286|284301|284303|284305|391596|448562|448682|448774|448775|448776|513020|516326|516330|516337|516340|516346|516373|516413|516415|557504|557549|557551|557553|558711|558713|612185|612186|628433|628434|650813|683389|685113|685838|690738|794766|824737|824738|824739|824740|824741|881027|881028|881029|881030|881031|881032|881033|881034|881035|881036|881037|881038|881039|882795|922234|922235|930794|930795|942227|952630|961020|977178", + "text": "Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant" + }, + { + "baseId": "15697|15698|15699|15700|15701|15702|15703|15704|15705|15706|15714|15715|171068|615323|789084|798960", + "text": "Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive" + }, + { + "baseId": "15698|15708|15714|171067|171070|238363|615310|615312|615313|615314|615315|615319|615320|615321|615322|615323|615324|615325|615326|615327|615720", + "text": "Reduced protein C activity" + }, + { + "baseId": "15704|615294|615361|615615|801511", + "text": "Abnormal thrombosis" + }, + { + "baseId": "15710|33051|171063|448774|615273|615277|615287|615288|615311|615371|615390|615392|615719|615723", + "text": "Thromboembolism" + }, + { + "baseId": "15714|33051|33073|171063|212340|448774|515340|558713|615287|615307|615311|615311|615316|615317|615318|615375|615376|615420|615421|615653|615865", + "text": "Deep venous thrombosis" + }, + { + "baseId": "15720|15721|15722|15723|15724|15725|15726|15727|15728|15729|15730|15731|106585|106586|190216|190217|190218|195207|237099|271825|280105|280107|280111|280112|280117|280119|280123|280125|280126|280444|280446|280448|280450|280454|280456|281770|281921|281923|353101|448013|481387|481388|513388|549519|556916|557255|558431|578381|621079|650558|690559|696614|777118|780632|789108|823755|823756|858730|861140|864147|864148|864149|864150|864151|864152|864153|864154|864155|864156|865163|865164|941861|961825|967102|967103|967104|967105|969145|972778|972807|976707", + "text": "Fucosidosis" + }, + { + "baseId": "15730", + "text": "FU1/FU2 POLYMORPHISM" + }, + { + "baseId": "15732|15733|15734|15735|15736|39901|39902|227332|307313|307314|307315|307319|307322|307323|307324|307327|307328|307329|307330|307338|307339|307341|307342|307344|307348|307349|307357|307364|311619|311625|311626|311627|311630|311643|311645|311650|311652|311655|311656|311657|311660|317115|317120|317125|317126|317127|317128|317129|317131|317138|317152|317154|317156|317158|317556|317557|317559|317561|317564|317567|317572|317575|317581|317583|317584|419138|508835|508836|514842|612849|613383|901380|901381|901382|901383|901384|901385|901386|901387|901388|901389|901390|901391|901392|901393|901394|901395|901396|901397|901398|901399|901400|901401|901402|901403|901404|901405|901406|901407|901408|901409|901410|901411|901412|901413|901414|901415|901416|901417|901418|901419|901420|901421|901422|901423|901424|901425|901426|901427|901428|901429|901430|901431|901432|901433|901434|901435|901436|901437|901438|903340|903341|903342|903343|903344|903345|903346|903347|903558|919196|919197|919198", + "text": "Geleophysic dysplasia 1" + }, + { + "baseId": 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+ "text": "Mucopolysaccharidosis, MPS-IV-A" + }, + { + "baseId": "15739|15742|15747|15750|15752|99069|195587|196191|255948|265255|290017|290775|293951|294412|326781|326785|326786|336625|336637|336644|336662|342867|342872|342873|342882|342884|342892|342895|342907|342908|344521|344525|344528|344533|344537|344556|353363|512233|574202|621553|621849|645119|917223", + "text": "Morquio syndrome" + }, + { + "baseId": "15754|15755|15756|15757|15758|15759|15760|136214|136215|136216|136217|136218|136219|136220|136221|299745|299746|299750|302338|302339|306735|306739|306746|306747|307035|307041|307058|513062|895738|895739|895740|895741|895742|895743|895744", + "text": "Transient neonatal diabetes mellitus 1" + }, + { + "baseId": "15761|15762|15763|15764|15765", + "text": "Slow acetylator due to N-acetyltransferase enzyme variant" + }, + { + "baseId": "15761", + "text": "ethambutol, isoniazid, pyrazinamide, and rifampin response - Toxicity/ADR, Metabolism/PK" + }, + { + "baseId": "15766|15767", + "text": "Skin/hair/eye pigmentation, variation in, 10" + }, + { + "baseId": "15768|141594|211105|295307|295317|295319|295320|295333|295343|295344|297113|297114|297121|300824|300825|300826|300829|300846|300854|300859|300861|300884|300953|300955|300958|300964|300965|300966|655637|892885|892886|892887|892888|892889|892890|892891|892892|892893|892894|892895|892896|892897|892898|892899|892900|892901|892902|892903", + "text": "Mitochondrial complex III deficiency, nuclear type 4" + }, + { + "baseId": 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+ "text": "Brittle cornea syndrome 1" + }, + { + "baseId": "15771|790691|790692", + "text": "Alopecia, neurologic defects, and endocrinopathy syndrome" + }, + { + "baseId": "15772|16674", + "text": "Spinocerebellar ataxia type 31" + }, + { + "baseId": 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+ "text": "Arrhythmogenic right ventricular cardiomyopathy, type 5" + }, + { + "baseId": 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+ "text": "Arrhythmogenic right ventricular cardiomyopathy" + }, + { + "baseId": "15773|24413|44669|48063|54073|54183|54200|54216|54230|54235|78880|171193|178554|178726|196985|198417|198419|198450|204196|390709|390710|408639|487491|487607|905934", + "text": "Familial isolated arrhythmogenic right ventricular dysplasia" + }, + { + "baseId": 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+ "text": "Hypertrophic cardiomyopathy" + }, + { + "baseId": "15774|15775", + "text": "Recombination rate quantitative trait locus 1" + }, + { + "baseId": "15776|15777|15778|15779|252155", + "text": "Iodotyrosine deiodination defect" + }, + { + "baseId": "15780|15782|15783|15784|15786|15787|70942|70943|70948|70951|98767|99436|131759|131760|131761|131766|131766|131768|131769|131772|131779|131780|177091|177556|177557|177559|191878|191878|191879|191983|195612|195613|207109|207110|207110|207111|207112|207113|212357|214170|214171|214172|214172|214173|214174|214175|214176|214177|214177|214178|214179|214180|214181|214182|214183|214184|214185|214186|214187|214188|214189|214190|214191|214192|214193|214194|214195|214196|239335|239335|239336|239340|239341|239342|251350|251352|251361|251362|251363|266978|267031|267183|269743|272794|272797|273009|274669|275428|292529|292604|292624|292625|292627|292629|292631|293976|293984|293991|294001|294003|294005|294011|294012|297363|297364|297376|297381|297387|297389|297392|297399|297400|297401|297411|297424|297439|297441|297442|297443|297444|297445|297446|297454|297458|297459|367617|367949|406406|406411|406413|421479|421481|421481|489382|489382|490151|493783|500929|513950|537655|559621|578428|586790|588876|588934|622340|622342|625795|632058|788767|788889|828900|828906|858589|890278|890279|890317|890318|890319|890320|890321|890322|890323|890324|890325|890326|890327|890328|890329|890330|891756|891757|891758|962154", + "text": "Joubert syndrome 9" + }, + { + "baseId": "15781|15786|16372|16384|40033|70936|70937|70938|70939|70940|70941|70942|70943|70944|70945|70946|70947|70948|70949|70951|70953|70954|70955|70956|99436|131759|131760|131761|131766|131766|131768|131769|131772|131779|131780|177091|177557|177559|191878|191878|191879|191983|191984|195612|195613|207109|207110|207111|207112|212357|214172|214177|214182|214185|214187|239335|239335|239336|239340|239341|239342|251350|251352|251361|251362|251363|266978|267031|267183|269743|272794|272797|273009|274669|275428|292529|292604|292624|292625|292627|292629|292631|293976|293984|293991|294001|294003|294005|294011|294012|297363|297364|297376|297381|297387|297389|297392|297399|297400|297401|297411|297424|297439|297441|297442|297443|297444|297445|297446|297454|297458|297459|367617|367949|406406|406411|406413|421479|421481|421481|489382|489382|490151|493783|500929|578428|586790|588876|588934|622340|622342|632058|678048|678049|828900|890278|890279|890317|890318|890319|890320|890321|890322|890323|890324|890325|890326|890327|890328|890329|890330|891756|891757|891758|906239|906281|962154|970207|970208|970209|970229|970230|970232", + "text": "Meckel syndrome type 6" + }, + { + "baseId": "15783|15785|15786|15787", + "text": "COACH SYNDROME 2" + }, + { + "baseId": "15786|39799|39800|39891", + "text": "Joubert syndrome 9/15, digenic" + }, + { + "baseId": 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+ "text": "Meckel-Gruber syndrome" + }, + { + "baseId": "15786|16113|16115|16410|16414|16417|16418|16419|16420|16422|131766|190880|191878|207110|214172|214177|214280|214282|227327|237317|239335|239342|272794|272797|273848|343287|367617|401969|406411|409651|421481|425214|489341|489382|513544|530184|578428|622340|622342|962154", + "text": "Joubert syndrome with hepatic defect" + }, + { + "baseId": 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+ "text": "Hereditary spastic paraplegia 15" + }, + { + "baseId": 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+ "text": "Spastic paraplegia" + }, + { + "baseId": "15792|15793|15794|15795|15796|213536|389487|508777|508778|508779|508780|508781|512894|918754", + "text": "Parkinson disease 11" + }, + { + "baseId": "15797|15798|15799|49854|136058|136072|136074|136079|136083|207507|207512|207526|237027|304433|308154|308163|308166|308167|313190|313324|428773|428775|428783|428794|428796|538397|579537|620803|788823|900425|900426|900427|900428|904189|965972|966035", + "text": "Mental retardation, autosomal recessive 13" + }, + { + "baseId": "15800|15801|15802", + "text": "Homocystinuria, cblD type, variant 1" + }, + { + "baseId": "15803|15804|15805", + "text": "Methylmalonic aciduria, cblD type, variant 2" + }, + { + "baseId": "15803|15804|15805|15806|15807|15808|199983|199984|199985|215216|216021|216022|216023|216024|270084|282028|282035|282037|282047|282049|282051|282052|282710|282712|282720|282730|282731|282733|284333|284334|284337|284556|284557|284564|284565|284566|363942|365441|365640|480572|538949|628488|628489|628490|650836|690749|719280|719281|762214|762215|774585|790054|819051|819052|824812|824813|824814|824815|850791|881123|881124|881125|881126|882805|882806|942250|942251|952639|970198", + "text": "Methylmalonic acidemia with homocystinuria cblD" + }, + { + "baseId": "15809|15810|15811|15812|15813|15814|15815|15816|15817|15818|15819|15820|39887|253062|253064|481381|790784", + "text": "Amelogenesis imperfecta, hypocalcification type" + }, + { + "baseId": "15821|15822|224867", + "text": "Myopathy with lactic acidosis, hereditary" + }, + { + "baseId": "15823|920287", + "text": "Cataract, juvenile, with microcornea and glucosuria" + }, + { + "baseId": "15824|102140|102141|192557|204228|204229|204230|204231|204232|204233|215289|271294|291191|291195|291200|291202|291203|291205|291209|291212|291213|291218|291219|291223|291224|291229|291230|291234|291245|291257|291259|292152|292153|292155|292160|292161|292162|292164|292166|292168|292207|292217|292223|292225|292226|292228|292231|292232|295593|295595|295604|295619|295620|295622|295628|295630|295633|295635|295643|295644|295654|295663|295664|295726|295729|295743|295770|295773|295776|295778|295784|295786|295789|295790|295797|295798|295810|295813|295814|368763|453437|481700|486813|519582|538361|559660|620767|626137|631744|686458|698249|708987|720577|720578|720579|734208|748442|798535|816451|889434|889435|889436|889437|889438|889439|889440|889441|889442|889443|889444|889445|889446|889447|889448|889449|889450|889451|889452|889453|889454|889455|889456|889457|889458|889459|889460|889461|889462|889463|889464|889465|889466|889467|889468|889469|889470|889471|891693|918849", + "text": "Congenital disorder of glycosylation type 1N" + }, + { + "baseId": "15825|15826|15827|15828|551762|562669", + "text": "Brugada syndrome 2" + }, + { + "baseId": "15825|33098|40426|52937|57473|78586|78934|188506", + "text": "Death in infancy" + }, + { + "baseId": 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+ "text": "Brugada syndrome" + }, + { + "baseId": "15825|78451|78452|78528|487028|621159|621160|654323|972559", + "text": "Brugada syndrome (shorter-than-normal QT interval)" + }, + { + "baseId": "15827|24428|24432|24636|24767|24768|77909|77927|77950|77952|78005|78322|78340|78368|78395|78427|78430|78435|78566|78601|78666|78681|78787|78846|141701|189321|222247", + "text": "SUDDEN INFANT DEATH SYNDROME" + }, + { + "baseId": 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+ "text": "Primary familial hypertrophic cardiomyopathy" + }, + { + "baseId": 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+ "text": "Long QT syndrome" + }, + { + "baseId": "15829|21928|24750|24758|24759|29095|29097|33920|45630|59458|101651|134576|136391|140302|140303|142182|142197|195749|205140|205774|207213|210615|210797|211149|211150|211157|211565|211675|211676|211925|211926|226977|246907|275552|276897|277891|277894|277975|277989|277994|277997|284147|284169|284922|285476|285485|286190|286192|287223|287238|287257|287274|288486|288520|288525|288894|292000|297817|297817|297944|297946|297948|299993|303686|304362|304363|304367|304368|304388|304443|309036|314314|314316|314909|314910|314917|320418|320428|320430|320434|321722|321729|327780|328875|329187|329191|329201|329202|335813|335814|335817|335819|337676|337682|337687|342444|342879|349198|349201|349420|349421|349424|349425|349427|349428|350421|353482|359158|359993|360002|404755|408382|424968|439523|488342|513258|513313|513602|539032|539038|543697|550839|552061|552062|553389|576145|578436|619957|622426|679783|735048|735050|735051|742261|742262|742263|765072|765073|773006|773007|782269|858260|858261|861143|961239|978179|978180", + "text": "Mitochondrial complex I deficiency" + }, + { + "baseId": "15830|39162|39163|134578", + "text": "Persistent truncus arteriosus (disease)" + }, + { + "baseId": "15831|153723|512951", + "text": "Lipase deficiency, combined" + }, + { + "baseId": 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+ "text": "Familial adenomatous polyposis 1" + }, + { + "baseId": "15836|15837|15838|15839|15850|15855|15862|15863|15871|15878", + "text": "Gardner syndrome" + }, + { + "baseId": "15836|15868|33882|49939|49941|49944|49947|49948|49949|49950|49951|49952|49953|49955|49959|49962|49964|49965|49966|49973|51408|51409|51412|51413|51414|51415|51417|51419|51420|93507|94143|94147|94148|94151|94152|94153|94154|98256|98259|98260|132745|132752|136436|136453|136485|136497|136511|137256|137261|137263|137269|139395|139396|139402|139406|139416|139418|139421|139425|139428|139432|139436|140110|140111|140113|140114|150882|151150|151332|151402|151657|151915|180171|180193|180207|180217|180234|182352|182353|182357|182359|182384|182386|182402|182416|182427|182443|182478|182480|182483|182484|186026|212392|212412|212422|221524|221552|233003|233121|233137|233142|233144|233148|233221|233225|239530|239538|239602|294905|294906|294910|294911|294920|294922|294923|294924|294929|294934|294938|294939|294947|294949|294950|296697|296698|296702|296704|296707|296708|296709|296713|296715|296716|296717|300409|300412|300416|300417|300418|300419|300422|300423|300425|300427|300428|300432|300433|300439|300441|300442|300446|300447|300453|300456|300464|300465|300468|358771|367774|367807|369246|394830|394952|454083|454198|454355|454463|454532|473948|483756|483852|484002|520880|617228|632658|764683|807810|807929|808106|892631|892632|892633|892634|892635|892636|892637|892638|892639|892640|892641|892642|892643|892644|892645", + "text": "APC-Associated Polyposis Disorders" + }, + { + "baseId": "15836|27632|139810|152315|227671|552359|581788|612029|612031", + "text": "Pilocytic astrocytoma" + }, + { + "baseId": "15837|15846|15849|15850|15861|20630|21703|28794|49960|133499|139407|139421|152171|180205|182399|226318|226319|226320|226321|226322|226372|419003", + "text": "Colorectal cancer, susceptibility to" + }, + { + "baseId": "15837|15838|15845|15846|15847|15849|15850|15851|15855|15860|15861|15863|15870|15874|33882|49939|49941|49944|49948|49949|49950|49953|49960|49963|49966|50194|50206|51410|51411|51418|51421|93766|94472|94473|98253|98257|132732|132738|132752|132759|132763|132769|136511|137244|137257|137263|139402|139406|139421|139438|140111|150577|150666|151082|151229|152288|173540|173984|180167|182313|182336|182339|182342|182368|191748|212389|212414|214662|214664|214670|214682|214693|215306|226318|232984|233042|233044|233046|233052|233062|233075|233127|233133|233209|239546|239564|244421|244422|244423|244434|246969|394347|394577|394685|394723|406490|406515|406522|419614|419619|419639|421027|421030|427229|427230|427231|427232|427233|427234|427235|427236|427237|427238|427239|427240|427241|427243|427244|427246|427247|427248|427249|427250|427251|427252|427253|427254|427255|427256|427257|427258|427261|427263|427264|427265|427267|427268|427269|427270|427272|427273|427274|427275|427276|427277|427279|427280|427281|427282|427283|427284|427285|427286|427287|427288|427289|427290|427291|427292|427293|427294|427296|427297|427298|427299|427300|427301|427302|427303|427304|427305|427306|427307|427308|427309|427310|427315|427579|427580|427581|427582|427583|427584|427585|432595|443651|454626|487023|487116|487132|487134|487141|496347|496412|496797|520782|537761|550680|612087|621183|621184|621189|621734|808073|905908|916935|916938|920491|983955", + "text": "Familial multiple polyposis syndrome" + }, + { + "baseId": "15840|15846|15849|15855|15861|16794|18408|18409|20332|20333|20507|20596|20678|20738|20918|20919|21298|21797|21798|21919|21920|23171|23172|23173|23174|23728|23729|24487|24550|24551|24767|28691|28694|28695|28696|28938|29000|29001|29002|29003|29005|29022|29241|29242|31303|31390|31391|32113|32615|32616|38609|49949|49951|49969|50192|50193|50195|50206|51408|51418|95724|96145|98259|132745|132769|133170|133288|133302|133516|137257|137506|137516|137518|138162|138599|139421|150666|150996|151049|151150|151332|151404|152318|152717|166273|166274|171787|171788|171789|171790|171791|171792|171793|171794|171795|180708|180735|180975|181542|182313|182336|182409|182441|184222|184243|184276|186210|200719|200720|200721|200722|200723|200724|200725|200726|200727|200728|200729|200730|200731|200732|200733|200734|200735|200736|200737|200738|200739|200740|200741|200742|200743|200744|200745|200746|200747|200748|200749|200750|200751|200752|200753|212406|212460|213168|214682|222460|222482|223358|223359|223360|223361|223362|227197|233008|233031|233058|235168|235189|235483|242041|242900|242906|247653|248647|248648|248649|251904|256353|327448|347927|363531|394231|394291|400896|401063|402341|402370|402900|402952|402990|403007|409552|453710|453897|454168|454210|454483|454885|467237|467353|473827|473865|477616|477736|517748|528761|529267|530769|531657|534326|536301|550675|550682|550685|790548|818468|818554|818555|818566", + "text": "Carcinoma of colon" + }, + { + "baseId": 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+ "text": "Neoplasm of the large intestine" + }, + { + "baseId": "15841|15842|15846|15849|18559|20332|20333|20333|20337|20338|22613|22805|22807|27285|27621|27623|28329|28691|28694|28697|28918|29759|49949|49951|49969|50193|50226|51408|51418|98259|132769|133281|133297|133302|133303|138598|139421|139695|150591|150666|150996|151150|151332|151404|152450|179930|181678|182313|182336|182409|182441|184387|212406|212460|214646|214682|232272|233008|233031|233058|362773|363046|363100|363113|363116|394231|404747|453710|453897|454168|454210|454483|454883|454885|473865|536301|538960|550667|550673|578398|614238|918038", + "text": "Neoplasm of stomach" + }, + { + "baseId": "15845|15853", + "text": "Brain tumor-polyposis syndrome 2" + }, + { + "baseId": "15846|15849|15879|20508|21076|22800|27386|27388|27391|27392|27393|27394|27395|27403|27404|27405|27407|27408|27409|27422|27641|27642|27645|27652|28691|28692|28694|28695|28697|28698|28939|29022|29834|29835|30972|30973|32616|32617|32618|32619|32620|32621|32622|32623|32625|32626|32627|32628|40609|44227|48304|49949|49951|49969|51408|51418|52763|54284|83949|98259|100947|132769|133271|133272|133274|133276|133277|137276|137693|139098|139421|150535|150666|150855|151150|151314|151332|151404|151476|151595|151773|151955|166215|171613|171614|179419|180995|181000|182313|182336|182409|182441|182669|185345|185366|185367|185371|185375|185384|185394|206650|212406|212460|212544|213392|213398|213402|213943|214682|222738|226760|232035|233008|233031|233058|236461|236463|236469|236471|236477|236481|242978|242980|245074|260191|260192|263517|263518|263519|263520|263521|263939|309444|359197|360335|362753|362768|362770|362771|362772|362773|362774|362775|362844|362865|362866|362887|362894|362895|362896|362912|362933|363107|363108|363109|363110|363112|363113|363114|363121|363123|363186|363201|363258|363259|363260|363265|363266|363267|363269|363270|363271|363272|363273|363307|363317|363318|363322|363323|363344|363345|363346|363347|363349|363350|363351|363352|363353|363354|363360|363405|363406|363407|363408|363410|363411|363438|363439|363440|363441|363442|363448|363449|363450|363451|363452|363453|363454|363455|363456|363457|363458|363459|363460|363461|363462|363463|363464|363465|363466|363467|363468|363469|363470|363471|363472|363478|363479|363480|363481|363482|363483|363484|363485|363486|363487|363488|363489|363490|363491|363492|363493|363494|363495|363496|363497|363498|363499|363509|363510|363511|363512|363513|363514|363516|363517|363518|363519|363520|363526|363527|363528|363529|363530|363531|363532|363533|363534|363535|363536|363537|363538|363539|363540|363541|363545|363546|363547|363548|363553|363554|363555|363556|363557|363558|363559|363560|363561|363562|363563|363564|363565|363566|363567|363568|363569|363570|363571|394231|395996|396013|419628|432418|443454|453710|453897|454168|454210|454483|454885|455993|473865|491079|522734|522773|536301|566301|790393|790394|903539", + "text": "Hepatocellular carcinoma" + }, + { + "baseId": "15846|15849|15857|15872|15876|49948|49949|49951|49969|51408|51418|98259|132769|139421|150666|151150|151332|151404|182313|182336|182409|182441|212406|212460|214682|221526|233008|233031|233058|394231|453710|453897|454168|454210|454483|454885|473865|536301", + "text": "Desmoid disease, hereditary" + }, + { + "baseId": "15850|15851", + "text": "Periampullary adenoma" + }, + { + "baseId": "15855", + "text": "Adenomatous polyposis coli with congenital cholesteatoma" + }, + { + "baseId": "15855|27395|182336|358777|363372|486821|486822", + "text": "Malignant Colorectal Neoplasm" + }, + { + "baseId": "15855|360864", + "text": "Adenomatous colonic polyposis" + }, + { + "baseId": "15855", + "text": "Hyperplastic colonic polyposis" + }, + { + "baseId": "15855", + "text": "Intestinal polyp" + }, + { + "baseId": "15855", + "text": "Duodenal polyposis" + }, + { + "baseId": "15855", + "text": "Gastric polyposis" + }, + { + "baseId": "15855|21230|137262|550681|550732", + "text": "Colon adenocarcinoma" + }, + { + "baseId": "15855|15861|20642|27403|27404|27413|29000|46603|52759|94753|94755|94763|95045|96129|99638|99640|99642|99647|99648|101927|102771|132759|132775|133391|133398|133400|133418|133517|137774|137778|137779|137780|137782|137785|137788|137795|137796|137804|140050|150735|169823|169825|169826|169830|169831|169834|169835|169836|171100|180211|182432|185986|191007|191199|192635|193836|193839|195293|208797|208799|215445|222238|226351|227849|227854|236490|236689|241293|241375|243458|247757|265631|271024|338245|338250|338256|338271|338276|347905|347913|347955|351664|351674|351691|351692|352602|362739|362743|362744|362745|362746|363512|379858|400244|406503|431929|438546|473598|488136|488148|492538|493637|493638|513785|514281|534478|534841|572013|572016|572017|572022|573419|574141|574142|574143|590606|590610|649528|649529|649530|653288|705951|705953|705956|717474|729208|729209|729218|731426|731427|742927|742935|742936|773567|773568|773569|778625|807908|821465|821466|849375|849376|849377|849378|917838|929496|941282|959101|960349|964238|964656|973094|980453", + "text": "Colorectal cancer" + }, + { + "baseId": "15856|27398|32619|32620|32621|139537|181051|432378|432388|432391", + "text": "Hepatoblastoma" + }, + { + "baseId": "15861", + "text": "Adenomatous polyposis coli, susceptibility to" + }, + { + "baseId": "15861|16284|16285|16821|18062|18072|18087|20630|20630|20640|20642|23084|23984|28432|66873|132093|132119|132156|132221|132225|132267|132794|132798|132871|133499|133528|133532|133585|137376|151098|151118|151260|151270|151274|152066|152122|180433|180519|183348|183467|183471|213319|234712|240887|244622|246794|389282|397887|476493|480186|485382|535740|535741|535742|535743|535744|535745|535746|535747|535748|535749|535750|535751|564370|569950|810246|849160|967155|967208", + "text": "Breast cancer, susceptibility to" + }, + { + "baseId": "15877|32619", + "text": "Desmoid tumor, somatic" + }, + { + "baseId": "15882|45589|45675|45676|45677|45678|45679|134815|134816|134817|141757|141758|141759|141760|192578|202127|202128|202130|202131|202132|202133|202134|202135|202136|202138|202140|203288|269762|303275|303276|303285|303286|303287|303293|303294|303295|303297|303299|303300|303305|303314|306614|306615|306616|306617|306619|306621|306623|306626|306628|306630|306636|306658|306670|311499|311500|311502|311507|311518|311520|311524|311531|311538|311539|311543|311545|311546|311547|311548|311551|311654|311664|311667|311674|311678|311686|311687|311688|311690|311712|311714|311715|369920|407243|456487|456846|456878|456883|457379|457381|457387|457540|457541|457542|457548|457909|493738|511718|522787|522788|523043|523235|539008|539415|549633|550302|552118|561099|561729|561732|564397|566143|567108|579491|636313|636314|636315|636316|636317|651687|651762|655800|683925|766357|766358|788819|819912|833808|833809|833810|833811|833812|833813|833814|898315|898316|898317|898318|898319|898320|898321|898322|898323|898324|898325|898326|898327|898328|898329|898330|898331|898332|898333|898334|898335|898336|898337|898338|898339|898340|898341|898342|924900|933979|933980|933981|933982|933983|933984|933985|945750|945751|955207|955208|955209", + "text": "Epilepsy, progressive myoclonic 3" + }, + { + "baseId": "15883|15884|34346|34347|34348|34349|34350|34351|34352|34353|34354|48051|48052|89775|101414|101415|101416|101417|101419|101420|101421|101422|101423|101424|177270|191248|207942|236963|268636|268988|316277|316279|316282|316283|316289|316290|316293|316294|316296|316304|316306|316307|323630|323632|323637|323661|323662|323664|323665|323681|323683|323685|323690|323692|323693|323694|323702|323703|323721|323722|323726|323736|329778|329780|329783|329788|329789|329790|329794|329803|329806|329807|329810|329820|329837|329841|329843|329849|329854|329858|331046|331050|331050|331051|331071|331071|331072|331073|331076|331083|331085|331086|331087|331090|331091|331099|331103|331104|331106|371882|372614|372875|374645|374645|413355|444943|489736|526714|584648|656109|666582|802179|859948|869480|869481|869482|869483|869484|869485|869486|869487|869488|869489|869490|869491|869492|869493|869494|869495|869496|869497|869498|869499|869500|869501|869502|869503|869504|869505|869506|869507|869508|869509|869510|869511|869512|869513|869514|869515|869516|869517|869518|869519|869520|869521|869522|869523|869524|872205|872206|872207|983763|983767", + "text": "Cutis laxa with osteodystrophy" + }, + { + "baseId": "15886|15887|49799|82782|136092|136093|267743|322502|322506|322514|322515|322522|322526|322528|322529|322530|322532|322535|331887|331888|331893|331896|331899|331902|338880|338881|338890|338891|338892|338895|338896|338901|338905|338907|338909|338914|338921|340507|340510|340512|340513|340514|340516|340517|340525|340526|340527|340529|340532|340533|340536|413400|577384|622427|754446|793528|793534|873499|873500|873501|873502|873503|873504|873505|873506|873507|873508|873509|873510|873511|873512|873513|873514|873515|873516|873517|873518|873519|873520|873521|873522|873523|873524|873525|971016", + "text": "Spinocerebellar ataxia type 11" + }, + { + "baseId": "15888|26968|26968|26969|26970|26971|26972|26973|48323|48325|48326|48327|48328|48329|94405|103452|103456|103461|103463|103464|103466|103470|103473|103478|103487|103491|103493|103512|103523|103524|103526|135085|142016|142017|190748|214395|214396|231816|231819|231821|244709|244711|244712|323152|329248|330408|444905|462167|526895|527212|537210|565034|566309|571185|571186|571187|624452|640599|640600|640601|640602|640603|640604|640605|652649|775896|779494|784267|799664|839260|839261|839262|839263|839264|839265|839266|839267|839268|839269|935901|935902|935903|935904|935905|940240|940241|941020|947775|956742|956743|960021|960772", + "text": "Porokeratosis 3, disseminated superficial actinic type" + }, + { + "baseId": "15889|15890|15891|15892|15893|15894|34595|34596|34597|39879|39880|39881|39882|76657|76658|76660|76661|190644|190645|247131|272298|327762|327766|327772|327778|327785|327786|327790|327796|327797|327801|327805|327810|327813|327814|327816|327820|327822|327824|327825|327827|327828|327841|327843|327846|337587|337589|337592|337595|337598|337601|337603|337608|337615|337619|337622|337624|337630|337631|337633|337648|337649|337652|337653|337660|337665|343820|343821|343823|343827|343828|343829|343830|343832|343835|343839|343844|343853|343859|343861|343862|343873|343875|343878|343879|345313|345316|345318|345319|345325|345328|345329|345330|345332|345333|345335|345336|345339|345341|505819|704047|727078|877022|877023|877024|877025|877026|877027|877028|877029|877030|877031|877032|877033|877034|877035|877036|877037|877038|877039|877040|877041|877042|877043|877044|877045|877046|877047|877048|877049|877050|877051|877052|877053|877054|877055|877056|877057|877058|877059|877060|877061|877062|877063|877064|877065", + "text": "Congenital defect of folate absorption" + }, + { + "baseId": "15895|15896|15897|15898|15899|15900|15901|15902|15903|49835|275884|275890|275891|275892|275893|275896|275898|275899|275901|275905|275907|275908|275911|275914|275915|275917|275919|275920|275922|275968|275975|275976|275980|275981|275986|275987|276000|276001|276003|276007|276008|276012|276013|276070|276071|276072|276073|276075|276078|276079|276085|276089|276176|276177|276178|276192|276196|276197|276203|276209|276214|276215|276226|276227|276228|276229|276273|353030|353031|861934|861935|861936|861937|861938|861939|861940|861941|861942|861943|861944|861945|861946|861947|861948|861949|861950|861951|861952|861953|861954|861955|861956|861957|861958|861959|861960", + "text": "Schnyder crystalline corneal dystrophy" + }, + { + "baseId": "15904|15905", + "text": "Deafness, autosomal dominant 50" + }, + { + "baseId": "15906|15907|15908|15909|15910|15911|141066|141067|141068|141069|141070|211413|211414|211415|211416|211417|211419|211421|211422|211423|253586|253587|253589|253590|253591|253593|308912|308915|308916|313608|313612|313614|313627|313628|319391|319403|319406|319407|319413|319419|319979|353860|370474|370993|371354|390671|390675|390676|407727|434633|502686|502688|525246|539024|539025|553126|553127|553128|553129|553130|553131|563329|565996|611364|638429|820170|836328|836329|836330|902513|902514|902515|902516|902517|902518|902519|902520|902521|902522|902523|902524|902525|902526|903444|904215|946689", + "text": "Fructose-biphosphatase deficiency" + }, + { + "baseId": "15912|15914|75258|75259|75260|75261|226073|226074|226075|226076|226077|226078|672264|816437|818164", + "text": "Congenital anomalies of kidney and urinary tract 1, susceptibility to" + }, + { + "baseId": "15912|15913|28975|28977|28986|28993|28994|28995|36221|36228|36230|36269|36275|36287|36305|45384|50278|50282|50284|50285|101890|101891|101892|132022|132023|132024|136461|136472|138926|139807|139815|139817|139819|139827|139828|139830|139833|139835|171125|182944|182948|182956|182958|186117|186118|212767|212783|212784|212794|221946|226095|240788|240790|240797|240802|271973|310269|310270|310276|310292|310293|310301|310303|310308|310309|310315|310324|310330|310333|310334|310337|315391|315392|315393|315394|315397|315398|315399|315400|315401|315409|315411|315412|315418|315419|321368|321369|321370|321384|321385|321388|321398|321411|321412|321414|321415|321417|321419|321420|321423|322063|322066|322067|322068|322098|322103|322120|322121|322125|322128|322139|322140|322141|322142|322151|322153|322160|322161|322168|338416|338421|338422|338423|338429|338433|338436|348048|348055|348056|351761|351764|351766|351767|351769|351771|351772|352633|352634|352635|352636|352637|352638|353127|353128|358824|358829|378752|397269|397444|397680|397699|459817|460008|460025|460251|460316|460325|460677|460686|475107|513591|525176|539281|569630|569655|729247|745381|836830|865863|865864|865865|865866|865867|865868|865869|865870|865871|865872|865873|865874|865875|865876|865877|865878|865879|865880|865881|865882|868471|868472|891421|891422|891423|891424|891425|891426|891427|891428|891850", + "text": "Renal hypodysplasia/aplasia 1" + }, + { + "baseId": "15915", + "text": "Malaria, mild, susceptibility to" + }, + { + "baseId": "15916", + "text": "Mucopolysaccharidosis, type vi, intermediate" + }, + { + "baseId": "15916|15917|15918|15919|15920|15921|15922|15923|15924|15925|15926|15927|15944|98261|98262|98263|98265|98267|98268|106583|177363|187113|190201|252017|260944|270323|272117|298115|298119|298121|298122|298123|298129|298130|298133|298134|298136|298137|298142|298147|298148|298153|298157|298158|298160|298162|298169|298171|298172|298174|298189|298194|298198|300414|300415|300420|300421|300429|300431|300434|300437|300443|300445|300457|300458|300463|300467|300479|300487|300488|300491|300492|300494|300498|304682|304685|304687|304693|304703|304704|304706|304713|304718|304729|304730|304733|304753|304764|304765|304766|304768|304947|304952|304953|304963|304964|304966|304967|304968|304971|304977|304987|304993|304994|304995|305000|305001|305002|305019|305028|353738|368534|406764|421553|438296|438558|438559|438560|438561|438562|438563|438564|438565|481744|481745|487135|487184|487321|488214|521246|521253|521605|521863|538379|539968|549596|549597|550383|550384|550385|550386|550387|550388|550389|550390|550391|550392|550393|550394|550395|550396|550397|550398|550399|550400|550401|550402|550403|550404|550405|550406|550407|550408|550409|550410|550411|550412|550413|550414|550415|550416|550417|550418|550419|550420|550421|550422|550423|550424|550425|550426|550427|550428|550429|550430|550431|550432|550433|550434|550435|550436|550437|550438|550439|550440|550441|550442|550443|550444|550445|550446|550447|550448|550449|550450|550451|550452|550453|550454|550455|550456|550457|550458|550459|550460|550461|550462|550463|550464|550465|550466|550467|550468|550470|550471|550472|550473|550474|550475|550476|550477|550478|550479|550480|550481|550482|550483|550484|550485|550486|550487|550488|550489|550490|550491|550492|550493|550494|550495|550496|550497|550498|550499|550500|550501|550502|550503|550504|550505|550506|550507|550508|550509|550510|550511|550512|550513|550514|550515|550516|550517|550518|550519|550520|550521|550522|550523|550524|550525|550526|550527|550528|550529|550530|550531|550532|550533|550534|550536|550537|550538|550539|550540|550541|550542|550543|550544|550545|550546|550547|550548|550549|550550|550551|550554|550555|550556|610697|626152|634032|634033|634037|634038|651233|710019|721539|721542|735208|744154|749607|749608|749609|749610|759489|765224|765226|765227|782341|782345|782346|787300|788785|819611|819612|821923|830966|830967|830968|830970|830971|851040|894709|894710|894711|894712|894713|894714|894715|894716|894717|894718|894719|894720|894721|894722|894723|894724|894725|894726|894727|894728|894729|894730|894731|894732|894733|894734|894735|894736|894737|894738|894739|894740|894741|894742|894744|894745|894746|894755|894756|896137|896139|904203|924114|924116|940817|944663|954199|954204|960571|963139|978209|978212|978214|978215", + "text": "Mucopolysaccharidosis type 6" + }, + { + "baseId": "15917|15919|15920|15921|15922", + "text": "Mucopolysaccharidosis, type vi, severe" + }, + { + "baseId": "15918", + "text": "Mucopolysaccharidosis, type vi, mild" + }, + { + "baseId": "15919|15924|18088|18089|18090|18091|18092|18093|18096|18097|18099|18102|18103|18104|18105|18107|18108|18109|18110|18111|18112|18113|18114|18116|18117|18119|18120|18121|18123|18124|18125|18126|18129|18130|34036|34038|34039|55236|55237|55239|55244|55245|55246|55247|79003|79007|79008|79013|79017|79020|79023|79024|79025|79028|79035|79039|79040|79042|79044|79045|79046|79050|79052|79053|79054|79055|79056|79057|79058|99022|99024|99026|99027|99028|99030|99031|99032|99033|99035|99036|99987|137043|175007|175287|175289|177490|187069|187070|187071|187072|187073|190193|194841|195894|195895|253830|257717|260266|265187|265223|265398|272614|310742|310745|310771|310806|310808|310811|316006|316010|316044|316047|316059|316063|322088|322102|322108|322109|322114|322165|322166|322713|322714|322725|322726|322738|322776|338622|338626|338627|338628|338632|338634|338636|338640|338646|338647|338660|338662|338667|348187|348189|348191|348195|348196|348205|348206|348209|348215|348216|348218|348221|348228|348232|348233|348236|348240|348247|348254|348264|348265|351857|351860|351862|351864|351866|351895|351896|351901|351902|351904|351906|351907|351908|351909|351918|351922|351923|351925|352691|352692|352693|352694|352695|352696|352697|352698|352699|352700|352701|352702|352703|352704|352705|352706|352707|353137|353139|353147|353148|353153|358673|358674|358675|358676|358677|358678|358679|358680|358681|358682|358683|358684|358685|358686|358687|358688|358689|358690|360618|361603|404849|407907|411048|413618|424607|424608|424609|424610|424611|424612|424613|430596|438867|471607|486311|488065|489866|513675|534023|534336|549113|549118|549122|549124|549126|549130|549132|549176|549178|549180|549184|549185|549186|549187|549301|549302|549307|549308|549310|549314|549315|549318|549447|549448|549449|549450|549451|549452|549453|549454|549455|550497|572047|573429|573433|574159|621204|621655|622488|639143|639144|649555|649556|649557|649558|649559|649560|649561|694753|694754|694755|694756|706022|712459|712460|724053|729318|729319|737588|737591|743041|743042|743043|743044|743045|743046|752248|752249|752250|752251|758191|758192|767962|767964|767965|773644|773645|773646|773647|776859|776865|783731|786653|786656|786657|786658|786659|786660|786661|786662|789093|789094|789095|789096|789097|789098|789099|789100|789101|798775|849461|849462|849463|849464|849465|849466|849467|849468|851932|853025|860743|891514|891515|891516|891517|891518|891519|891520|891521|891522|891523|891524|891525|891526|891527|891528|891529|891530|891531|891532|891533|891534|891535|891536|891537|891538|891539|891540|891541|891542|891543|891544|891545|891546|891547|891548|891549|891861|891862|917329|917330|917570|921252|929512|929513|939366|939367|939368|951534|951535|951536|951537|959133|959134|959135|959136|959137|962075|962076|962077|962078|962079|962080|962081|962082|962910|965929|978776|978777|978778|978779|978780|978781|978782|978783|978784|978785|978786|978787|978788|978789|978790|978791|978792|978793|978794|978795|978796|978797|978798|978799|978800|978801|978802|978803|978804|980076|980077|980078|980203|983841|983842", + "text": "Metachromatic leukodystrophy" + }, + { + "baseId": "15928", + "text": "Autoimmune disease 1" + }, + { + "baseId": "15929", + "text": "Bowen-Conradi syndrome" + }, + { + "baseId": "15930|39868|39869|135540|135541|135542|135543|135544|135545|135546|142594|142596|142599|142600|142601|192515|204466|207424|207425|211264|211266|211269|211274|211277|211280|211281|211282|211285|211288|211289|211292|226903|227304|273972|301222|301228|301229|304366|304374|308982|308999|309010|309012|309107|309108|368781|428634|481453|481454|511690|513424|539005|552109|621024|621039|692076|692077|735809|750271|759506|759674|765901|765903|765907|782686|790665|790666|790667|857620|857621|897008|900277|920230|963143|964915|965415|978366|978367|978368|978369|978370", + "text": "Pontocerebellar hypoplasia type 6" + }, + { + "baseId": "15931|166015|626087", + "text": "Wolfram syndrome 2" + }, + { + "baseId": "15932|15933|15934|15935|15936|15937|15938|15939|15940|15941|15942|15943|15944|15945|15946|15947|98494|98495|98496|106587|188278|194281|227309|303243|303244|303248|303252|303253|306560|306564|306567|306577|306583|311472|311475|311478|311479|311642|311647|457526|487321|522775|522777|523033|549626|549629|562127|562136|566129|581757|581758|590118|610518|621278|626171|636305|636306|682113|692259|692260|692261|692262|692263|692265|695367|711091|779429|790749|790750|819904|819906|819907|833796|833797|833798|898282|898283|898284|898285|898286|898287|898288|898289|898290|898291|898292|898293|898294|898295|898296|898297|898298|898299|900385|900386|919109|924898|924899|933977|963269", + "text": "Mucopolysaccharidosis type 7" + }, + { + "baseId": "15933|15947|188270|188271|188272|188273|188275|188276|188277|188278|188279|188280|188281|188282|188283|188284|215038|215039", + "text": "Non-immune hydrops fetalis" + }, + { + "baseId": "15948|15949|15950|15951|48159|256828|265057|332773|332775|332780|332782|342930|342936|342937|342941|342942|342948|348272|348275|348279|348280|348282|348284|348286|348297|348298|348301|348307|348308|349474|349477|349479|349482|349485|349489|349491|349494|349497|349498|349501|349505|349507|349508|377333|410546|413500|426292|438096|506582|551357|551358|551359|551360|551361|551362|551363|551364|551365|551366|551367|551368|551369|551370|551371|551372|551373|551374|551375|551376|551377|551378|551379|551380|551381|551382|551383|551384|551385|551386|551387|551388|551389|620905|622257|622258|622259|622266|716243|727984|741667|880068|880069|880070|880071|880072|880073|880074|880075|880076|880077|880078|880079|880080|880081|880082|880083|880084|880085|880086|880709", + "text": "Autosomal recessive congenital ichthyosis 5" + }, + { + "baseId": "15952|15953|15954", + "text": "CARBONIC ANHYDRASE II VARIANT" + }, + { + "baseId": "15952|15955|15956|15958|15959|195548|253178|273146|305944|305945|305948|305949|305951|309985|309988|309990|315288|315289|315364|315382|315383|315386|315388|353844|513295|620305|620306|792774|900087|900088|900089|900090|900091|900092|900093|900094|900095|962051", + "text": "Osteopetrosis with renal tubular acidosis" + }, + { + "baseId": "15960|75280|94455|101793|101795|101797|141875|141877|141878|141880|141881|176935|177066|177330|177820|181488|181489|181490|190890|191074|191075|195389|196050|196051|196305|196306|196307|196308|196309|196310|196312|201187|201189|201190|201191|201192|201193|201194|201198|201199|201200|201201|201203|201204|201208|201209|201211|201212|201213|201215|201221|201222|201223|201225|201226|201227|201228|201231|201234|201236|201237|201238|201239|201240|201241|201242|201243|201244|201247|206856|206858|206860|206862|238364|238365|250169|262998|264065|271793|281999|282022|282651|359289|365410|365417|365425|365585|365588|365606|365620|365623|365624|365639|365810|391365|391377|391378|391424|391430|391513|391514|391522|391608|405300|405301|425399|434570|440524|442929|442932|448574|448580|448583|448584|448731|448732|448740|448741|448745|448753|448762|448765|448808|448815|448819|498670|498896|498902|498934|516349|516351|516352|516362|516367|516384|516389|516439|516441|516447|516453|516455|516457|516461|516463|516464|516466|516469|516472|516474|516482|516484|539963|539964|551760|552052|557471|557528|557530|557532|557571|557573|557575|558731|558733|558735|558737|558739|558741|558743|559214|559216|559218|559220|559222|559224|559228|559230|578920|628462|628463|628464|628465|628466|628467|628468|628469|628470|628471|628472|628473|628474|628475|628476|628477|628478|628479|628480|628481|628482|628483|628484|628485|628486|628487|650826|683394|683396|685843|685844|685846|685849|690746|690747|746789|746791|762205|762206|774574|780840|790051|790052|790053|792909|794777|800682|801976|819048|819049|819050|821851|821852|821853|821854|821855|821856|821857|821858|821859|821860|821861|821862|821863|821864|821865|821866|821867|821868|821869|824780|824781|824782|824783|824784|824785|824786|824787|824788|824789|824790|824791|824792|824793|824794|824795|824796|824797|824798|824799|824800|824801|824802|824803|824804|824805|824806|824807|824808|824809|824810|824811|918672|918673|922248|922249|922250|922251|922252|922253|922254|922255|930808|930809|930810|930811|930812|930813|930814|930815|930816|930817|930818|930819|930820|942239|942240|942241|942242|942243|942244|942245|942246|942247|942248|942249|952634|952635|952636|952637|952638|962030|965922|970712", + "text": "Mental retardation, autosomal dominant 1" + }, + { + "baseId": "15961", + "text": "Autosomal recessive osteopetrosis 6" + }, + { + "baseId": "15962|15962|15963|15963|15964|15965|15966|15967|15968|15968|15971|15973|15974|15975|15977|15978|15979|15980|15981|15982|15983|15984|15984|15987|98800|98802|98803|98805|98807|98808|98813|98814|98817|98819|106590|106591|106592|191759|192236|198618|205010|205010|244010|244010|247388|251094|259759|259759|268409|404764|443416|488319|511481|513262|513535|519256|542920|542929|542931|542932|542934|542937|542939|542941|542944|542948|542958|542960|542962|542965|542967|542970|543091|543093|543095|543098|543109|543110|543114|543117|543122|543156|543170|543173|543181|543184|543185|543186|543188|543190|543192|543193|543194|543195|543198|543200|543202|543206|543207|543208|543214|543215|543217|543219|543220|543222|543223|543224|543226|543242|543243|553376|677122|788764|789350|806439|815872|861129|906152|971843|971844|971845|971846", + "text": "Infantile GM1 gangliosidosis" + }, + { + "baseId": "15962|15963|15964|15965|15965|15968|15969|15974|15974|15977|15978|15979|15980|15981|15982|15984|15984|15987|98800|98802|98803|98805|98807|98808|98813|98814|98817|98819|192236|205010|244010|247388|251094|259759|268409|404764|443416|488319|511481|513535|519256|542920|542929|542931|542932|542934|542937|542939|542941|542944|542948|542958|542960|542962|542965|542967|542970|543091|543093|543095|543098|543109|543110|543114|543117|543122|543156|543170|543173|543181|543184|543185|543186|543188|543190|543192|543193|543194|543195|543198|543200|543202|543206|543207|543208|543214|543215|543217|543219|543220|543222|543223|543224|543226|543242|543243|553376|971843|971844|971845|971846", + "text": "GM1 gangliosidosis type 3" + }, + { + "baseId": "15962|15962|15963|15963|15964|15964|15965|15967|15968|15970|15971|15971|15972|15974|15974|15975|15975|15976|15977|15977|15978|15978|15979|15979|15980|15980|15980|15981|15981|15981|15982|15982|15983|15984|15984|15984|15985|15985|15987|79371|98800|98801|98802|98802|98803|98804|98804|98805|98806|98806|98807|98808|98808|98809|98811|98812|98813|98813|98814|98814|98816|98817|98819|98821|134600|177750|177750|177751|191759|192236|195238|195238|198618|205010|205010|244010|247388|247388|251092|251094|251094|251095|251095|259759|259759|259759|268409|268409|268409|290008|290009|290015|290019|290020|290020|290021|290770|290771|290772|290774|290774|290776|290776|290779|290779|290780|293940|293941|293941|293942|293942|293948|294402|294405|294406|294409|294409|359418|359418|368399|368399|404764|404764|413623|414933|414933|443416|443416|488319|488319|511481|511481|513535|513535|519256|519256|542920|542929|542931|542932|542934|542934|542937|542937|542939|542941|542941|542944|542948|542958|542960|542962|542965|542967|542970|543091|543093|543095|543098|543109|543110|543114|543117|543117|543122|543156|543170|543173|543181|543184|543185|543186|543188|543190|543190|543192|543193|543194|543195|543198|543200|543202|543206|543207|543207|543207|543208|543214|543215|543215|543215|543217|543217|543219|543220|543222|543223|543223|543224|543226|543242|543243|549547|553376|553376|559427|559427|631173|631174|631175|631176|631177|631178|651170|672002|691372|691373|691375|691376|691377|695198|698038|698039|698039|698040|708787|708788|708788|734026|734026|734027|734029|763816|763818|763820|774802|777248|805341|819366|827900|827901|827902|827903|827904|827905|827906|888665|888666|888667|888668|888669|888670|888671|888672|888673|888674|888675|891635|891636|891637|923139|940747|940748|943476|943477|953435|953436|959694|975775", + "text": "Mucopolysaccharidosis, MPS-IV-B" + }, + { + "baseId": "15962|15963|15964|15965|15968|15974|15974|15977|15978|15979|15980|15981|15982|15983|15984|15984|15987|77007|77008|79370|79371|79372|98800|98802|98803|98805|98807|98808|98813|98814|98817|98819|192236|195238|198618|205010|244010|247388|247388|251094|259759|268409|404764|443416|488319|488319|511481|513535|519256|542920|542929|542931|542932|542934|542937|542939|542941|542944|542948|542958|542960|542962|542965|542967|542970|543091|543093|543095|543098|543109|543110|543114|543117|543122|543156|543170|543173|543181|543184|543185|543186|543188|543188|543190|543192|543193|543193|543194|543195|543198|543200|543202|543206|543207|543208|543214|543215|543217|543219|543220|543222|543223|543223|543224|543226|543242|543243|553376|672002|672008|798530|971843|971844|971845|971846", + "text": "GM1 gangliosidosis type 2" + }, + { + "baseId": 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+ "text": "GM1 gangliosidosis" + }, + { + "baseId": "15980|15984|15985|15986|15987", + "text": "GM1-gangliosidosis, type I, with cardiac involvement" + }, + { + "baseId": 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+ "text": "Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive" + }, + { + "baseId": "15991|15992|15993|15994|15994|15995|15995|15996|15997|15998|15999|16000|16000|16001|16002|16004|29346|39863|190736|190737|191147|191148|191149|191323|191755|192718|192804|192806|192886|195224|195572|195868|206562|206563|208145|208146|208170|208171|208172|208172|208173|208174|214462|242569|255132|255133|255134|255135|255137|255138|255140|255141|255142|255145|255147|255148|255150|255151|268271|322119|322129|322130|322133|331398|331399|331401|331412|331413|331415|331419|338295|338297|338302|338306|338311|338316|338319|340107|340111|340112|340113|340122|340128|343069|360967|401431|409200|422005|422134|424507|426088|429631|429631|429633|429634|429636|429637|429638|429639|429641|429642|445685|445685|467249|467261|491377|539156|539157|539158|576279|609224|609227|615958|615959|615960|615961|615962|615963|615967|615968|615969|620502|620503|620504|620505|622698|666810|703096|770064|791437|873122|873123|873124|873125|873126|873127|873128|873129|873130|873131|873132|873133|873134|873135|873136|873137|873138|873139|873140|873141|873142|873143|873144|873145|873146|873147|873148|873149|873150|873151|873152|873153|873154|876480|876481|876482|905055|961532|971588", + "text": "Tyrosinase-positive oculocutaneous albinism" + }, + { + "baseId": "15991", + "text": "Brown oculocutaneous albinism" + }, + { + "baseId": "15994|15995|15999|16000|16001|16002|19782|19783|19784|191148|208172|236894|374023|422005|429631|508884|578449|792795", + "text": "Skin/hair/eye pigmentation, variation in, 1" + }, + { + "baseId": "15995|18814|18831|18834|18835|32635|105416|105431|105472|208174|445285|494127|609202|609206|609207|609215|609216|609217|609218|609224|609225|609226|609227|609228|609229|609230|609264|609265|609266|609267|609268|609272", + "text": "Nonsyndromic Oculocutaneous Albinism" + }, + { + "baseId": "16005|16006|16007|16008|177112|177243|177374|301108|301118|301119|301123|301125|301126|301129|301130|301137|301139|301141|304121|304139|304140|304147|304156|304157|304165|304166|304167|304179|304183|304184|304185|304192|304219|304220|304221|308878|308882|308883|308884|308886|308889|308891|308894|308895|308896|308909|308913|308914|308917|308962|308964|308985|308998|309000|309002|309004|309006|309007|309008|361402|692066|692070|692071|699676|735779|735780|798916|799452|799453|799454|832577|896934|896935|896936|896937|896938|896939|896940|896941|896942|896943|896944|896945|896946|896947|896948|896949|896950|896951|896952|896953|896954|896955|896956|896957|896958|896959|896960|896961|896962|896963|896964|896965|896966|896967|896968|896969|896970|900274|900275|966586|966587|966588|966589|966590|966591|966592|966593|966594|966596", + "text": "Leber congenital amaurosis 5" + }, + { + "baseId": "16005|16007|16372|16374|16381|16870|17086|17088|17089|17094|17984|20022|20264|20604|20775|20778|20779|20879|20901|22555|28154|28154|28158|33455|38825|39736|45795|48213|71372|71373|71377|71378|90149|98766|98767|101845|102062|102064|102066|104456|104492|104710|104715|104720|104726|104730|104747|104750|104753|104756|104757|104761|104789|105003|105219|105677|105698|105739|105745|105746|105755|105767|105772|105777|105795|105802|105803|105806|106469|106470|131781|131784|131789|131790|131801|132656|140430|140432|140433|152874|152885|152893|166162|166163|166167|166170|166171|166172|166173|166174|166175|166176|166177|166178|166179|177012|177143|177274|177275|177407|177569|177574|177649|177818|186767|192056|193150|193956|194245|194735|195036|195038|195426|196354|208002|213535|214327|214330|214336|215459|222267|226069|226534|227208|238059|238060|241580|241581|241582|244072|254734|254763|265486|265487|266496|269446|269860|270116|270185|271821|271989|278313|278731|278752|278767|278948|278950|278951|279529|279543|279548|279565|280103|280136|280138|280188|280189|280191|280236|280238|280239|280242|280243|280244|280248|281153|282951|285348|285975|286003|288344|292531|292538|292539|292542|292553|292554|292558|292561|292592|292597|293944|293947|293972|293973|293974|293975|297323|297325|297328|297351|297354|297355|297356|297377|297378|297379|297385|297388|297406|302595|304192|304195|307247|308890|308894|308895|308983|318583|318585|318587|318604|321023|321024|326794|326807|326864|326876|328900|329414|329441|329443|329455|330122|332974|332978|332982|332983|333926|333959|334650|334658|339719|339732|339733|339736|339743|343885|343913|345454|345466|346805|349196|349200|349209|350128|353450|353451|353806|359276|360037|360901|361383|363660|364061|364169|377829|405000|408763|408764|408767|408772|413259|413368|413369|413658|418814|418817|418818|418820|418821|418823|418824|418825|418826|418827|418830|418831|426028|429460|429461|431560|431564|431565|431570|431637|431638|431639|431640|431664|431717|431718|431773|431776|431777|431802|431876|439631|448228|448230|462506|462765|463244|463251|463360|481582|489186|490297|496468|527405|527407|527409|527675|540977|550243|550244|550245|550246|550247|550249|550250|550251|550252|551581|551586|551591|551601|567084|568182|568185|569530|576338|609862|622989|623795|623879|623891|623892|623893|623894|623936|623977|624011|624014|624021|624030|628252|635309|641430|641431|641434|642639|642641|654353|684355|684356|684357|684358|685384|685386|688057|688060|688061|688062|688065|688066|688068|688069|688070|688071|688072|688073|688075|690054|690055|690437|690438|692065|692067|692070|692071|692072|693293|693294|693296|695586|696356|696361|696859|696863|702958|702960|706971|706972|707502|707504|710617|713770|714209|718484|719066|719067|731980|731981|731982|735782|739289|745957|746632|750240|750241|753624|759673|760254|761441|761443|762071|769332|777151|777160|778208|780423|782667|784751|791839|794252|795395|796876|800419|800421|800424|800448|800509|800512|800513|800514|800531|800544|800580|800610|800611|800614|800615|800684|800690|800703|801274|801275|801309|801331|801357|801437|801454|816462|823108|823114|823128|823139|824391|824401|824402|832551|832553|832557|832562|832564|832566|832568|832569|832570|832571|832573|832574|832578|840355|840356|840363|840368|840369|840379|840388|840395|841682|841683|841684|841690|852038|852510|870503|870508|870517|921782|952514|956982|956983|970641|970642|977470|977471|977472|977473|977474|977475|977476|977557|977558|977559|977560|977561|978354|978355|978356|978357|979302|979303|979304|979305|979306|979307|979308|979309|979310|979311|979312|979313|979314|979315|979316|979317|979318|979319|979320|979321|979322|979323|979324|979325|979326|979327|979328|979329|979330|979331|979332|979333|979334|979335|979336|979337|979338|979339|979340|979510|979511|979512|979513|979514|979515|979516|979517|979518|979519|979520|979521", + "text": "Leber congenital amaurosis" + }, + { + "baseId": "16009|399644|622414|919450|970128", + "text": "Mental retardation, fra12a type" + }, + { + "baseId": "16010|16011|16012|16013|34168|135444|202902|205210|208223|208224|213140|222433|227371|242122|242125|242126|242129|242134|242136|242137|242138|242142|255378|255379|255383|255384|255385|255386|255387|255389|323474|323482|323486|323487|323490|323492|323499|323502|323507|333179|333181|333190|333199|333200|333214|333215|333222|333224|333230|333231|333235|333236|333243|333247|340002|340005|340006|340007|340009|340010|340012|340013|340022|340029|340031|340032|340034|340036|341388|341390|341396|341397|341399|341401|341404|341406|341407|341408|341409|341411|341412|341420|341422|341424|341431|341434|341435|341436|341440|363821|400365|400376|400387|400414|400419|400511|400516|400530|400539|400540|400865|401220|401226|401232|401233|445447|464549|464561|465208|465228|465452|529135|529450|529451|529674|567316|567324|567326|569628|614402|614403|620530|620531|643586|643587|643589|684560|688496|874225|874226|874227|874228|874229|874230|874231|874232|874233|874234|874235|874236|874237|874238|874239|874240|874241|874242|874243|874244|874245|874246|874247|874248|874249|874250|874253|874254|876586|876587|876588|918031|918032|918033|918034|918035|918036|918039|918040|918041|918042|918043|918044|918045|918046|918047|918048|918049|918050|918051", + "text": "Fanconi anemia, complementation group I" + }, + { + "baseId": "16014|16015|16016|16017|550808", + "text": "Macrocephaly, macrosomia, facial dysmorphism syndrome" + }, + { + "baseId": "16016|23594|49251|50126|50180|57932|75743|75801|75812|75986|76035|76039|76077|76144|76148|76195|76217|76313|84057|187273|187274|201908|203104|205325|215524|223668|224835|224836|224837|224838|224839|224840|224841|224842|224843|224844|224845|224846|224847|224848|224849|224850|224851|237859|237860|237861|237862|237863|237864|237865|237866|237867|237868|237869|237870|237871|237872|237873|237874|237875|237876|237877|237878|237879|237880|237881|237882|237883|237884|237885|237886|237887|237888|237889|237890|237891|237892|237893|237894|237895|237896|237897|237898|237899|237900|237901|237902|237903|237904|237905|237906|237907|237908|237909|237910|237911|237912|237913|237914|237915|237916|237917|237918|237919|237920|237921|237922|237923|237924|237925|237926|237927|237928|237929|237930|237931|237932|237933|237934|237935|237936|237937|237938|237939|237940|237941|237942|237943|237944|237945|237946|237947|237948|237949|237950|237951|237952|237953|260052|260481|315038|315042|315044|315045|315046|315050|315052|315053|315055|315056|315058|315062|315064|321828|321829|321836|321839|321843|321845|321848|321849|321862|321863|321866|321875|321885|321887|322097|322099|322100|322104|322107|322110|322111|322112|322117|327887|327891|327899|327905|327907|327909|327912|327913|327927|327931|327932|327933|327938|329021|329022|329025|329026|329029|329030|329031|329032|329034|329047|329048|331378|331380|331385|331388|331389|331392|331397|338264|338269|338272|338275|338279|338287|338293|340099|340104|340105|340106|360623|363822|363839|363862|364197|374744|374752|374759|375632|375802|375813|377949|409073|421975|422128|429890|438585|438824|438884|439351|441932|441933|466891|481349|511323|512076|512868|530704|536165|551629|551630|551631|551632|551633|551634|551635|551636|551637|551638|551639|551640|551641|551642|551643|551644|551645|551646|551647|551648|551649|551650|551651|551652|551653|551654|551655|551656|551657|551658|551659|551660|551661|551662|551663|551664|551665|551666|551667|551668|551669|551670|551671|551672|551673|553316|553317|553318|553319|553320|553321|553322|553323|553324|553325|553327|553328|553329|553330|553331|553332|553333|553334|553335|553336|553337|553338|553339|553340|553341|553342|553343|553344|553345|553346|553347|553348|553349|553350|572553|576146|577575|577576|577577|577580|577582|577583|577586|577587|577588|577589|577591|577593|577595|577596|577597|577598|577599|577601|580045|580049|580050|580055|580058|580061|580074|580076|580078|580086|580094|580099|580100|580107|580110|580112|580113|580133|580134|580136|580139|580143|580144|580145|580147|580149|580150|580151|580152|580153|580155|580156|580159|580160|580161|580162|580164|580165|580167|580169|580170|580171|580173|580174|580178|580179|580181|580182|580183|580184|580186|580187|580189|580192|580193|580195|580196|580197|580200|580203|580205|580206|580208|580209|580211|580214|580216|580218|580219|580220|580221|580222|580225|580228|580232|580233|580234|580236|580237|580239|580245|580248|580250|580252|580254|580259|580263|580371|580373|580374|580376|580381|580384|580387|580389|580394|580396|580398|580400|580405|580410|580416|580421|580422|580427|580430|580442|580447|580450|580452|580454|580457|677425|789342|789343|916785|916786|916787|961471|961473|963961|966915|966946|966979|970334|970339|970343|977268|977269", + "text": "Autism spectrum disorder" + }, + { + "baseId": "16018|16019|309611|309618|309623|314432|314435|314436|314437|320472|320473|320479|320480|320949|865515|865516|865517|865518|865519|865520|865521|865522", + "text": "Age-related macular degeneration 8" + }, + { + "baseId": "16020|16021|16022|16023|142223|142224|206941|236976|366373|427987|427989|450644|499998|517726|517836|559121|614243|629474|629475|629476|629477|629478|629479|691034|774672|781186|825751|825752|825753|825754|850841|850882|940694|942613|952944", + "text": "Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation" + }, + { + "baseId": "16024", + "text": "Severe combined immunodeficiency with sensitivity to ionizing radiation due to nhej1 deficiency" + }, + { + "baseId": "16025|16026|19566|19567|20132|20133|20134|20135|22892|23725|23745|23897|23898|23899|23900|23901|23902|23903|24144|24145|24252|27680|28829|29021|29739|29746|31120|31128|31172|31198|38715|38717|44278|44282|44864|44907|45009|45017|134590|139383|151135|151136|165951|167531|173819|173835|173968|186816|187111|195351|195994|200245|207853|207854|208598|211038|211039|211046|211053|211055|211058|227236|227344|229181|259865|293779|361179|389505|414921|428730|429186|429199|429208|430214|430215|430216|430217|432333|434047|434359|434360|434361|434638|437669|437670|437743|437744|437745|437746|437747|437748|437749|437750|437751|437752|437753|437754|437755|437756|437757|437758|437759|437760|437761|437762|437763|437764|437765|437766|437767|437768|437769|437770|437771|437772|437773|437774|437775|437776|437777|437778|437779|437780|437781|437782|437783|437784|437785|437786|437787|442293|443626|469804|470212|472261|487507|496327|512807|512808|513547|514235|546120|546326|576978|577852|623536|694415|695821|704986|716446|728184|790463|790464|790465|790466|790467|790468|792729|847677|847678|847679|903588|918899|918900|918901|920407|950783|958635|961285|970859", + "text": "Type 2 diabetes mellitus" + }, + { + "baseId": "16027|33448|33449|33450|33451|143071|143072|200016|200020|200021|200025|200027|207028|287320|287322|287323|287327|287329|288040|288052|288067|288073|288079|288085|290733|290734|290735|290736|290751|290752|290971|290990|290991|290992|290993|290994|291008|367037|433946|518644|518832|552067|552068|558686|562091|620094|620095|620750|622848|672052|774886|790297|790300|806417|827074|885485|885486|887402|887403|961760", + "text": "Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)" + }, + { + "baseId": "16028|16030|106537|190896|191942|191943|193662|198616|269092|289273|289277|289278|289287|289288|289294|289295|289298|290056|290060|290067|290075|290084|290085|293149|293150|293151|293153|293155|293157|293161|293162|293164|293165|293597|293598|293601|293602|293605|293623|293635|293636|293639|421425|452118|493010|620759|620760|683565|686353|686358|799315|799316|799317|827649|827652|888257|888258|888259|888260|888261|888262|888263|888264|888265|888266|888267|888268|888269|888270|888271|888272|888273|888274|888275|888276|888277|888278|888279|888280|888281|888282|888283|888284|888285|888286|888287|888288|888289|888290|888291|888292|888293|891598|891599|891600|891601|971373|980154", + "text": "Asphyxiating thoracic dystrophy 2" + }, + { + "baseId": "16031|16032|16033|16034|16035|16036|16037|139197|139198|139199|139200|139201|139202|187984|187985|222996|259252|259253|262038|262039|309045|309047|313795|313810|313811|319615|319622|319641|319642|320193|320202|320203|361843|421768|514259|514260|544990|544995|545006|545010|545011|545017|545024|545028|545033|545035|545036|545038|545039|545045|545291|545297|545299|545316|545320|545323|545328|545337|545346|545366|545368|545372|545376|545377|545379|545382|545383|545388|545393|545399|545405|545406|545416|545424|545426|545430|545646|545649|545651|545655|545656|545658|545660|545661|545664|737260|751862|902630|902631|902632|902633|902634|902635|902636|902637|902638", + "text": "Xeroderma pigmentosum group A" + }, + { + "baseId": "16038|47606|47607|47608|47609|47610|919958|920431", + "text": "Spinocerebellar ataxia type 10" + }, + { + "baseId": "16039|17474|19923|20458|22452|22453|22454|23717|28628|29493|29757|29973|31129|39078|39083|39084|39085|39086|299023", + "text": "Diabetes mellitus type 2, susceptibility to" + }, + { + "baseId": 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+ "text": "Neuronal ceroid lipofuscinosis 7" + }, + { + "baseId": 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+ "text": "Seizures" + }, + { + "baseId": "16047|16048|16049", + "text": "Retinitis pigmentosa 42" + }, + { + "baseId": "16050|16051|16052|16053|16054|16055|16056|47002|47003|47004|141071|141072|186163|186164|186165|191443|191601|194535|213504|226815|226827|243836|244817|244819|244824|316809|316813|316815|316816|316818|316820|316822|316828|316833|316836|316840|316842|316844|316845|316851|316853|316854|316856|316857|316859|316860|316863|316867|316868|316869|316873|324395|324396|324404|324413|324415|324416|324417|324419|324422|324427|324431|324432|324442|324445|324447|324458|324459|330469|330492|330495|330497|330499|330501|330511|330520|330525|330532|330549|330550|330552|330563|330566|330567|330571|330574|330586|330594|330596|330597|330604|330610|330614|331848|331849|331861|331863|331864|331872|331878|331879|331880|331882|331884|331890|331891|331894|331898|331915|331918|331934|331937|331938|331954|331958|331959|331971|331973|331974|331981|331986|331991|398958|462377|527348|578499|578500|590025|590026|590029|641075|684322|791228|799678|799679|804743|839851|869676|869677|869678|869679|869680|869681|869682|869683|869684|869685|869686|869687|869688|869689|869690|869691|869692|869693|869694|869695|869696|869697|869698|869699|869700|869701|869702|869703|869704|869705|869706|869707|869708|869709|869710|869711|869712|869713|869714|869715|869716|869717|869718|869719|869720|872229|872230", + "text": "Charcot-Marie-Tooth disease, type 4H" + }, + { + "baseId": 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+ "text": "Charcot-Marie-Tooth disease type 4" + }, + { + "baseId": "16057|39837|39838|39839|39840|39841|139955|139956|139957|139958|139959|177460|177461|210915|210916|210919|210923|210927|210933|210935|213547|214383|214388|288663|288664|288672|288675|288682|288683|288687|288691|288692|289392|289395|289397|289398|289401|289404|292405|292406|292409|292412|292413|292414|292418|292420|292559|292563|292574|292606|292607|292609|359154|359155|359481|367178|368215|406111|549905|620751|626135|744011|759196|763608|763611|763615|790328|795323|805079|827524|851274|857613|857614|887894|887895|887896|887897|887898|887899|887900|887901|887902|887903|887904|887905|887906|887907|887908|887909|891560|891561|977793|977794|977795|977796", + "text": "Acyl-CoA dehydrogenase family, member 9, deficiency of" + }, + { + "baseId": "16058|75319|84781|142399|191716|191716|191832|191940|192043|192139|192140|192687|192687|192688|192689|193660|195741|195741|196054|196054|196055|196056|196056|231497|231498|231498|236918|236918|244278|244279|244281|244282|244283|244283|244284|244285|244287|244288|244288|244289|244290|244290|244291|244292|244292|244293|244294|244294|265896|265896|265963|265963|266960|268743|268743|268885|268885|269804|269805|271724|271724|271725|271725|272148|272148|274250|275302|275506|281043|281048|281049|281054|281055|281060|281060|281062|281068|281068|281069|281077|281079|281079|281083|281083|281086|281091|281093|281093|281100|281101|281101|281650|281654|281658|281660|281661|281663|281666|281668|281668|281669|281687|281688|281689|281689|281695|281696|281698|281698|281708|281708|281720|281722|281723|281723|281727|282863|282864|282865|282866|282869|282872|282874|282874|282876|282883|282883|282886|282886|282891|282891|282892|282893|282894|282894|282896|282896|282899|282899|282904|282904|282906|282906|282913|282913|282914|282914|283149|283150|283151|283153|283155|283156|283157|283173|283176|283176|283179|283208|283208|283210|283210|283213|283213|359270|365178|365179|365179|365185|365185|365189|365189|365195|365197|365199|365201|365363|365363|365380|365385|365448|365460|365461|365461|365464|365464|405228|414805|414807|421254|442882|448208|448212|448214|448215|448219|448277|448288|448303|448308|448309|448314|448319|448323|448325|448334|448338|448343|448344|448346|448347|448354|448402|448404|448405|448409|448411|448413|448417|448426|481599|485980|498817|516031|516037|516051|516053|516057|516060|516067|516068|516069|516072|516073|516074|516082|516084|516092|516097|516099|516194|516202|516205|516209|516213|516218|516218|516223|516226|536598|540440|557356|557358|557360|557362|557364|557366|557368|557405|557407|557409|557411|557413|557415|557417|557419|557421|558024|558026|558028|558030|558032|558034|558036|558038|558040|558573|558575|558577|558579|558581|558583|612539|628212|628212|628213|628214|628215|628216|628217|628217|628218|628219|628220|628221|628222|628223|628224|628225|628226|628227|628228|628229|628230|628231|628232|628233|628234|628235|628236|628237|628238|628239|628240|628241|628242|628243|628244|628245|650769|690658|690659|690660|690661|695061|696837|696840|696841|746620|746623|762055|762057|778838|780758|787165|818989|818990|824354|824355|824356|824357|824358|824359|824360|824361|824362|824363|824364|824365|824366|824367|824368|824369|824369|824370|824371|824372|824373|824374|824375|824376|824377|824378|824379|824380|824381|824382|824383|850783|864719|864720|864721|864722|864723|864724|864725|864726|864727|864728|864729|864730|864731|864732|864733|864734|864735|864736|864737|864738|865201|922147|922148|922149|922150|922151|922152|922153|922154|922155|930644|930645|930646|930647|930648|930649|930650|930651|930652|939824|940647|942083|942084|942085|942086|942087|942088|942089|942090|942091|952502|952503|952504|952505|952506", + "text": "Distal spinal muscular atrophy, autosomal recessive 4" + }, + { + "baseId": "16058|20041|23440|441227|443712|452516|556613|558202|562065|625100|625143|625194|625292", + "text": "Hereditary motor neuron disease" + }, + { + "baseId": "16059|16060", + "text": "MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF" + }, + { + "baseId": "16061|18998|21835|22033|22034|23405|28597|29418|29419|29511|31633|32916|33100|44292", + "text": "Myocardial infarction" + }, + { + "baseId": "16062|16063|16064|16065|16066|16067|16068|16069|39832|39833|39834|39835|273506|390529|437666|919100", + "text": "Lethal osteosclerotic bone dysplasia" + }, + { + "baseId": "16070|16071|16071|16072|16073|16074|167422|167423|169418|169422|169423|169424|169425|169428|169430|169434|169435|208453|331271|331273|331289|331306|331316|331347|331351|341637|341652|347012|347041|348305|348318|348326|348361|434668|539080|694279|791859|791860|791861|976671|977290", + "text": "Schinzel-Giedion syndrome" + }, + { + "baseId": "16070|40530|100020|100024|141332|169569|171233|189212|190135|190136|190137|254100|254103|254104|256045|263959|271555|312682|313489|313519|313520|313534|313535|313536|313543|313546|319125|319683|319725|319726|319733|319734|319749|319750|325800|325831|325853|325854|325896|325916|325917|325922|325923|326880|326881|327191|327244|337052|337081|413635|426749|426750|445387|448523|448545|488722|489879|511407|553412|556535|557414|578035|587787|610419|619849|620934|621026|623668|626464|655018|680083|680084|680085|680086|680087|680088|680089|680090|680091|680092|680093|680094|680095|680096|680097|680098|680099|680100|680101|680102|680103|680104|680105|680106|680107|680108|680109|680110|680111|680112|680113|680114|680115|680116|680117|680118|680119|680120|680121|680122|680123|680124|680125|680126|680127|680128|680129|680130|680131|680132|680133|680134|680135|680136|680137|706511|706513|707621|729896|731499|822351|824610|966695|966696", + "text": "Arthrogryposis multiplex congenita" + }, + { + "baseId": "16070|141332|169569|171233|181416|189212|263959|413635|445387|488722|489879|587787|610419|620934|680083|680084|680085|680086|680087|680088|680089|680090|680091|680092|680093|680094|680095|680096|680097|680098|680099|680100|680101|680102|680103|680104|680105|680106|680107|680108|680109|680110|680111|680112|680113|680114|680115|680115|680116|680117|680118|680119|680120|680121|680122|680123|680124|680125|680126|680127|680128|680129|680130|680131|680132|680133|680134|680135|680136|680137|801537", + "text": "Fetal akinesia sequence" + }, + { + "baseId": "16070|16071|167418|167419|167420|167421|167422|167422|167423|167423|208453|264907|362448|482171|512352|512354|514090|539080|611888|611890|611891|626268|798736|919797|919798|919799|963857|964499|971102|972987|972988|972989|972990|972991|972992|972993|976671", + "text": "Mental retardation, autosomal dominant 29" + }, + { + "baseId": "16074|27663|27665|27666|27667|27668|29701|48939|50038|152948|152949|152950|174177|204572|362963|362964|362965|362966|362967|362968|362969|362970|362971|362972|362973|362974|362975|362976|362996|362997|362998|362999|363000|363001|363002|363003|363004|363231", + "text": "Chronic myelogenous leukemia, BCR-ABL1 positive" + }, + { + "baseId": "16075", + "text": "Deafness, autosomal dominant 44" + }, + { + "baseId": "16076|16077|16078|16079|16080|39831|187650|187651|187652|187653|208398|256183|256184|328639|328648|328650|328651|328652|338618|338619|338621|344679|344683|344691|344695|344696|344698|344699|344703|346082|346086|346090|531360|531415|571215|571508|571509|571521|574497|574498|614435|620590|646071|646072|646073|646074|646075|646076|646077|646078|646079|646080|715479|740805|740806|740807|755884|755885|755886|771566|845486|845487|845488|845489|852215|877679|877680|877681|877682|877683|877684|880527|880528|928330|928331|928332|928333|928334|937978|937979|937980|937981|949968|949969|949970|949971|949972|949973|958142|964482", + "text": "Severe congenital neutropenia 4, autosomal recessive" + }, + { + "baseId": "16081|679799|679830", + "text": "Dursun syndrome" + }, + { + "baseId": "16082|16083|39827|39828|39829|39830|40302|40303|134473|134474|134475|134476|134477|134478|134479|213640|242500|326295|326301|326302|326310|326311|326312|326316|326317|326322|326323|326324|326325|326329|326331|336043|336047|336048|336049|336053|336056|342317|342319|342326|342327|342329|342330|342333|343920|343922|343923|343924|343927|343932|343940|343942|343943|343946|343947|343951|343955|353356|361645|375399|401319|438017|481380|506477|538454|575502|608908|608909|612314|685422|688645|688647|690147|791640|791641|798704|798705|875935|875936|875937|875938|875939|875940|875941|875942|875943|876721|927941", + "text": "Spastic paraplegia 35" + }, + { + "baseId": 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+ "text": "Three M syndrome 2" + }, + { + "baseId": 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+ "text": "Focal segmental glomerulosclerosis 5" + }, + { + "baseId": 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+ "text": "Charcot-Marie-Tooth disease, dominant intermediate E" + }, + { + "baseId": "16094|204571|325661|325662|325669|325670|325675|325678|325684|325685|325693|325695|325700|325707|325710|325712|325713|325721|325723|325724|325725|325727|325728|325729|335330|335341|335342|335344|335348|335363|335364|335368|335372|341809|341810|341819|341820|341821|341825|341827|341829|341830|341831|341832|341836|341840|341842|341843|341845|343297|343298|343300|343307|343308|343313|343315|343317|343322|343323|343325|343326|343330|343331|343333|343336|343339|343344|343345|438656|513360|620548|620549|703735|714972|726679|875446|875447|875448|875449|875450|875451|875452|875453|875454|875455|875456|875457|875458|875459|875460|875461|875462|875463|875464|875465|875466|875467|875468|875469|875470|875471|875472|875473|875474|875475|875476|875477|875478|875479|875480|875481|875482|875483|875484|875485", + "text": "Growth retardation, developmental delay, coarse facies, and early death" + }, + { + "baseId": "16095|108175|108176|108177|108178|141637|141638|141640|205770|205771|211638|211639|316904|316907|316909|316912|316913|316916|324508|324510|324513|324515|324518|324522|330689|330692|330694|330699|330703|330705|330707|332072|332081|332087|332103|332107|332108|332112|738617|869721|869722|869723|869724|869725|869726", + "text": "Myopathy, lactic acidosis, and sideroblastic anemia 2" + }, + { + "baseId": "16096|16097|16098|16099|16100|16101|16102|16103|16104|16105|16106|34398|34399|39819|39820|140768|140769|140773|140774|140775|277455|277460|277462|277469|277473|277660|277661|278545|278546|278547|278552|278574|278577|278579|278586|278589|278590|278591|278592|364624|364690|427664|442667|513498|620708|682589|789883|789884|789885|789886|861604|862827|862828|862829|862830|862831|862832|862833|862834|862835|862836|862837|865038|865039|865040", + "text": "Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome" + }, + { + "baseId": "16096|16101|51184|225802|225802|361061|361062|402131|402131|514220|536183", + "text": "Gait ataxia" + }, + { + "baseId": "16096|16101|360889", + "text": "Gait imbalance" + }, + { + "baseId": "16096|16101", + "text": "Dysmetria" + }, + { + "baseId": "16096|16101|29017|39943|184571|192474|207388|226496|243994|263173|263216|263221|263245|263259|263263|263290|263386|263390|263395|263397|263408|286038|360910|361083|514000|514108|514144|514165|514172|514332|590033|590041|590045|590071|590072|590076|590083|590087|590088|590092|615237|792643|792644|797206|815876", + "text": "10 conditions" + }, + { + "baseId": "16099|16101|427664", + "text": "Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation" + }, + { + "baseId": 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+ "text": "Joubert syndrome 7" + }, + { + "baseId": "16107|16113|482045|568743|620477|620478|620479|620547", + "text": "RPGRIP1L-Related Disorders" + }, + { + "baseId": 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syndrome, type 5" + }, + { + "baseId": "16117", + "text": "Retinitis pigmentosa in ciliopathies, modifier of" + }, + { + "baseId": 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5|956986|956987|959566|959576|959577|959680|960061|960062|960063|960064|960793|965280", + "text": "Nephronophthisis" + }, + { + "baseId": "16117|101586|101587|101588|101589|101590|131807|131809|131811|131812|177286|177418|178021|190880|191930|208284|208285|208288|237020|237107|237317|242442|255806|255807|255810|255815|255817|266004|268059|268166|269093|271215|273848|325639|325640|325646|325648|325649|325653|325654|325657|335287|335289|335291|335292|335293|335300|335303|335305|335307|335309|335319|335320|335321|335322|335323|335325|341773|341774|341775|341779|341787|341788|341791|341795|341797|341803|341805|343259|343260|343262|343266|343269|343272|343273|343276|343282|343285|343286|343287|343293|375212|415498|530041|644749|688608|688615|797343|875411|875412|875413|875414|875415|875416|875417|875418|875419|875420|875421|875422|875423|875424|875425|875426|875427|875428|875429|875430|875431|875432|875433|875434|875435|875436|875437|875438|875439|875440|875441|875442|875443|875444|875445|876677|876678", + "text": "Nephronophthisis 8" + }, + { + "baseId": "16118|16119", + "text": "COACH SYNDROME 3" + }, + { + "baseId": "16120|16121|308847|308848|308851|308852|313447|313450|313452|313470|313483|313493|319267|319276|319281|319878|319879|319887|319891|319896|319901|319902|319920|525188|620338|620815|790917|902435|902436|902437|902438|902439|902440|902441|902442|902443|902444|902445|902446|902447|902448|902450|902451|902452|902453|902454|902455|902456|902457|902458|902459|902460|903440|964743|964744", + "text": "Phosphoserine aminotransferase deficiency" + }, + { + "baseId": "16122|142238|142239|178173|178174|178175|178176|178177|270762|302069|302073|302083|302084|302089|302090|302096|302097|302098|305247|305248|305254|305255|305256|309999|310001|310002|310003|310018|310019|310020|310031|310084|310092|310093|310094|310105|310106|310107|710846|730473|800378|897593|897594|897595|897596|897597|897598|897599|897600|897601|897602|897603|897604|897605|897606|900327|900328|900329|900330|900331", + "text": "Premature ovarian failure 5" + }, + { + "baseId": "16123|27735|27736|27737|38861|428764|539140", + "text": "Autoimmune thyroid disease 3" + }, + { + "baseId": "16124|16125|534064|848305", + "text": "Cataract 31 multiple types" + }, + { + "baseId": "16126|16127|16128|16129|16130|16131|16132|39813|321430|321433|337274|339228|339279|339300|513724|654757", + "text": "Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome" + }, + { + "baseId": 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+ "text": "Posterior column ataxia-retinitis pigmentosa syndrome" + }, + { + "baseId": "16133|16137|16138|16139|16140|16141|16142|16145|16147|186640|186643|193447|425390|623127|623128|623172|623173|623174|623175", + "text": "Glycogen storage disease IIIa" + }, + { + "baseId": 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|952596|952597|952598|959574|960437|960438|960439|960440|960441|960442|961826|961827|961828|964805|969542|971686|971687|971688|971689|971690|971691|971692|971693|971694|971695|971696|971697|971698|971699|971700|971701|971702|971703|971704|971705|971706|971707|971708|977565|977566|977567|977568|977569|977570|977571|977572|977573", + "text": "Glycogen storage disease type III" + }, + { + "baseId": "16134|16135|16138|16143|16144|192258", + "text": "Glycogen storage disease IIIb" + }, + { + "baseId": "16146", + "text": "Glycogen storage disease IIIc" + }, + { + "baseId": 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+ "text": "Spastic paraplegia 11, autosomal recessive" + }, + { + "baseId": "16148|16148|16149|16150|49728|214790|214791|237525|237526|339019|400608|465035|465061|482070|569374|792796", + "text": "Charcot-Marie-Tooth disease, axonal type 2X" + }, + { + "baseId": "16150|16151|49711|49718|49757|49782|339019|374516|400608|465035|465061|482070|552181|552182|569374|792796|861398|861399|861400", + "text": "Amyotrophic lateral sclerosis type 5" + }, + { + "baseId": "16151|17562|21144|21146|45791|49924|49929|51184|135812|181460|181467|185949|190660|190870|205789|211769|212511|236923|266622|284698|285646|358179|375819|389217|392272|401365|402131|411550|411551|411552|411553|411554|411555|411556|411557|411558|411559|411560|411561|411562|411563|411564|411565|411566|411567|411568|411569|411570|411571|411572|411573|411574|411575|411576|411577|411578|411579|411580|411581|411582|411583|411585|411586|411588|411589|411590|411591|411592|411593|411594|411595|411596|411597|411598|464396|464398|464989|465100|465172|465178|465183|465193|465255|497082|528928|529032|529036|529373|529374|529379|529542|567194|567197|568580|573406|643420|643421|643422|682752|693694|693695|693696|693700|693701|693702|693703|695650|695652|714479|739671|815844|842546|918407|927376|936994|936995|936996|948947|957457", + "text": "Hereditary spastic paraplegia" + }, + { + "baseId": "16157|16158|16159|16160|16161|265917|290283|290284|290285|290290|290291|290295|291116|291117|291118|291128|291136|291140|291141|291142|294419|294428|294431|294437|294438|294446|294758|294759|294768|294783|294793|294807|294827|367543|367565|500253|552073|620125|620126|698078|792736|888873|888874|888875|888876|888877|888878|888879|888880|888881|888882|888883|888884|888885|888886|888887|888888|888889|891640|891641", + "text": "Anemia, sideroblastic, 2, pyridoxine-refractory" + }, + { + "baseId": "16158|620124", + "text": "SLC25A38-Related Disorders" + }, + { + "baseId": "16162|16163|16164|16165|16166|16167|16168|433925|516104|628249|628250|628251|730021|732567|762062|799223|824388|824389|952508|952509", + "text": "Schneckenbecken dysplasia" + }, + { + "baseId": "16169", + "text": "Inflammatory bowel disease 10, susceptibility to" + }, + { + "baseId": "16170|16171|39807|39808|39809|101542|101544|101545|106536|177679|229664|229665|229666|229667|229668|229669|229671|229672|229674|307025|307026|307027|311138|311144|316734|316738|316741|316744|316748|316751|316752|316754|317139|317140|317141|317143|317157|317159|364144|369915|370416|370418|370683|372286|372310|444372|444373|444375|458412|458414|458874|458876|458878|458882|458919|458923|459410|459412|459417|459418|459421|496504|496937|524064|524069|524072|524355|524363|524577|524581|524583|524586|524622|562830|562832|562845|563540|563552|565339|565568|565570|568543|568546|568547|568549|637769|637770|637771|637772|637773|637774|637775|637776|637777|637778|637779|637780|655900|692589|692590|692591|692592|736921|751429|751430|767150|767152|767154|783295|820075|835554|835555|835556|835557|835558|835559|835560|835561|835562|835563|835564|835565|835566|901164|901165|901166|901167|901168|901169|901170|901171|901172|925404|925405|934565|934566|934567|934568|934569|946395|946396|955703|955704|955705|955706|955707", + "text": "Congenital disorder of glycosylation type 1M" + }, + { + "baseId": "16172|16173|16174|16175|16176|16177|16178|16179|16180|16181|48341|48591|48592|94345|191592|255359|255360|271580|323347|323348|323353|323356|323358|323376|323379|323382|323383|332999|333003|333008|333021|333022|333028|333029|333032|333035|333039|333041|333044|333046|333047|339868|339869|339872|339873|339876|339877|339880|339881|339882|339883|341281|341282|341283|341287|341288|341291|431508|439522|464530|464537|465167|465174|465305|465420|573538|587548|703324|703326|703329|703331|714597|726240|754665|778195|785010|874139|874140|874141|874142|874143|874144|874145|874146|874147|874148|874149|874150|874151|874152|874153|874154|874155|874156|874157|874158|874159|874160|876567|876568|876569|876570|876571|903605|919595|919596|937073|937074|940330|941095|949012|960121|973038|973039", + "text": "Matthew-Wood syndrome" + }, + { + "baseId": "16182|313115|313119|319168|319170|319174|319177|325309|325310|325311|326158|326167|326173|326176|326183|326188|545814|712698|724288|783902|978866|978867|978868|978869|978870|978871|978872|978873|978874|978875|978876", + "text": "Hydrolethalus syndrome" + }, + { + "baseId": "16182|313120|545808|545811|545814|546109|546111|546161|546165|546435|546437|546439", + "text": "Hydrolethalus syndrome 1" + }, + { + "baseId": "16183|16184|16185|185756|188107|205049|205050|213970|237274|243978|366235|366274|366276|366277|366800|405524|421351|481398|481399|499680|499696|629237|629238|629239|629240|677411|730094|743857|789112|952868|961231|961232|961752|961753|961754|961755|961756", + "text": "Beta-hydroxyisobutyryl-CoA deacylase deficiency" + }, + { + "baseId": "16186|16187|16188|16189|16190|102398|106441|106442|176959|177222|177507|177508|177509|177510|186021|192577|212353|212354|212355|221433|221434|251323|251324|251325|251326|251327|251329|251330|265833|265834|292197|292198|292203|292204|292209|292211|292219|292220|293631|293632|293634|293637|293643|293647|296969|296970|296971|296972|296974|296977|296978|296980|296984|296985|357327|428271|428272|428273|438279|453263|520007|543041|543046|543048|543050|543051|543057|543058|543060|543070|543257|543262|543273|543274|543287|543298|543300|543302|543304|543307|543322|543324|543327|543330|543334|543342|543346|543350|543353|543355|543357|543358|543360|543363|543367|543369|543371|543373|543375|543384|543386|543387|551531|615888|620147|620148|631913|683620|683621|686492|686495|691508|698361|764292|828732|828734|828735|828739|828744|856311|890077|890078|890079|890080|890081|890082|890083|890084|890085|890086|890087|962699|978012|978013|978014|978015", + "text": "Bardet-Biedl syndrome 12" + }, + { + "baseId": "16186|17586|28369|39169|165814|165815|188428|207171|207172|207173|226235|226236|406053|514069|514070", + "text": "Abnormality of cardiovascular system morphology" + }, + { + "baseId": "16186|203840|203843|260323|263250|263309|360933|360934", + "text": "Inability to walk" + }, + { + "baseId": "16186|28855|28860|39217|259861|259864|361188|380284|428715|514122|590738|590739|625969|625969|625971|625972", + "text": "Postaxial polydactyly type A1" + }, + { + "baseId": "16186|18513|24396|98778|188865|360815|360816|360817|361392|362165|415139|513965|513966|514039|514150|801185|801225|980736", + "text": "Visual impairment" + }, + { + "baseId": "16191|16192|16193|16194|16195|16196|16197|16198|187120|254568|254569|254570|254572|254580|254581|254585|254586|254587|317279|317280|317286|317287|317293|317294|325024|325025|325033|325036|325043|325044|325045|331177|331185|331195|331196|331198|331199|331205|332695|332696|332701|373089|408669|434767|492451|504496|527182|547012|565485|566840|566841|576154|588750|609833|620443|641141|641142|641143|641144|656166|667102|713545|725111|738657|738659|738660|753393|760200|760202|769133|769135|769136|769138|775900|784395|787788|787806|787812|796775|799684|839964|839965|839966|869907|869908|869909|869910|869911|869912|869913|869914|869915|869916|869917|869918|869919|936135|936136|941033|941034|956886|960787|979283|979284|979285|979286|979287|981802|981803|981804|981805|981806", + "text": "Glycogen storage disease, type VII" + }, + { + "baseId": "16200|16200|16201|16202|47611|76621|134822|134822|134823|134823|186088|186088|189035|192927|192927|194463|212626|215376|221753|221753|240231|273689|304107|304116|304117|304117|304122|304124|304124|304132|307707|307707|307717|307719|307719|307723|307730|307730|307733|307735|307735|307738|307738|307739|312730|312745|312746|312746|312753|312759|312760|312761|312864|312865|312866|312868|312872|312875|312877|312877|312884|312885|312886|312886|312893|312899|312900|361439|361439|369691|371499|395886|396283|396284|425775|425775|441168|457793|457807|457807|457808|457808|458179|458181|486611|486611|489373|522977|522984|522989|523617|561941|562349|562351|564606|564611|564614|564620|564623|564630|567355|567356|567360|567360|622349|622385|622411|622417|622448|636577|636578|636579|636580|636581|636582|683972|683973|683974|683975|683976|683976|685233|685234|685236|687175|687181|687182|692345|722840|782989|796116|819944|834108|834109|834110|834111|834111|834112|834113|898806|898807|898808|898809|898810|898811|898812|898813|898814|898815|898816|898817|898818|898819|898820|898821|898822|900436|900437|900438|925008|925009|925010|925011|934087|934088|945849|955287", + "text": "Hereditary spastic paraplegia 8" + }, + { + "baseId": "16200|97556|214760|214761|361439|396283|457793|458179|522977|522989|523617|561941|562349|562351|564606|564611|564614|564620|564623|564630|567355|567356|621019|636577|636579|636580|636581|636582|790780|970873", + "text": "Ritscher-Schinzel syndrome 1" + }, + { + "baseId": "16203", + "text": "FACTOR XII (WASHINGTON D.C.)" + }, + { + "baseId": "16204", + "text": "FACTOR XII (LOCARNO)" + }, + { + "baseId": "16205|16206|16207|16208|16209|227284|251868|251869|297104|297110|297117|297118|297132|297134|299039|299040|299041|299042|299043|299067|299070|303255|303259|303260|303268|303269|303284|303290|303292|303301|303307|303308|303438|303439|303440|303444|303445|353691|353692|893997|893998|893999|894000|894001|894002|894003|894004|894005|896080|896081|896082|896083|896084", + "text": "Factor XII deficiency disease" + }, + { + "baseId": "16205|251868|297104|297110|299039|299040|299041|299042|303255|303259|303260|303268|303269|303435|303438", + "text": "Nephrolithiasis/osteoporosis, hypophosphatemic" + }, + { + "baseId": "16205", + "text": "F12-Related Disorders" + }, + { + "baseId": "16206", + "text": "FACTOR XII POLYMORPHISM" + }, + { + "baseId": "16206|16207|16208|16208|16209|251868|251869|297117|297118|297132|297134|299041|299042|299043|299067|299070|303268|303269|303284|303290|303292|303301|303307|303308|303439|303440|303444|303445|390679|435195|700335|893997|893998|893999|894000|894001|894002|894003|894004|894005|896080|896081|896082|896083|896084|967291|971506|971507|971508|971509|971510", + "text": "Hereditary angioedema type 3" + }, + { + "baseId": "16207", + "text": "FACTOR XII (TENRI)" + }, + { + "baseId": "16208|251868|297104|297110|299039|299040|299041|299042|303255|303259|303260|303268|303269|303438|314325|353691|353692|581232", + "text": "Hereditary angioneurotic edema" + }, + { + "baseId": "16209|362153|417648|677237|677238|677239", + "text": "Angioedema" + }, + { + "baseId": "16209", + "text": "Urticaria (disease)" + }, + { + "baseId": "16209|27320|168041|168042|168043|168044|168045|168046|168047|168048|168049|168050|168051|168052|206950|206951|206952", + "text": "Hyperbilirubinemia" + }, + { + "baseId": "16209|35796|223747|250588|360836|360862|360987|360988|360989|360993|513923|514037|622024|622025|622026|622027", + "text": "Hypertensive disorder" + }, + { + "baseId": "16210|16212|16213|16214|16215|16216|16217|16218|16219|16220|16221|16222|16223|16224|16225|16226|44641|44645|44648|44649|44651|44653|44655|71453|71453|71454|71455|71456|71457|71458|88099|237358|304470|304472|304478|304479|304480|304485|304487|304491|304492|304495|304508|304509|304510|304511|304516|304518|304519|304520|304527|304528|304541|304542|308223|308224|308249|308254|308256|308261|308264|308270|308280|308281|308283|308284|308285|313236|313242|313245|313247|313248|313270|313277|313278|313281|313283|313285|313286|313297|313327|313328|313332|313333|313335|313338|313339|313341|313342|313343|313351|313359|313369|313381|313384|313398|313400|313404|428801|441176|441178|441179|513068|513069|544374|544381|544384|544387|544390|544392|544394|544396|544398|544651|544654|544659|544660|544661|544665|544673|544674|544676|544677|544678|544681|544685|544686|544688|544693|544694|544696|544696|544703|544705|544710|544712|544716|544718|544732|544735|544737|544738|544740|544741|544743|620294|695381|899026|899027|899028|899029|899030|899031|899032|899033|899034|899035|899036|899037|899038|899039|899040|899041|899042|899043|899044|899045|899046|899047|899048|899049|899050|899051|899052|899053|899054|899055|899056|899057|899058|899059|899060|899061|899062|899063|900452|900453|961817|961818|972009|972010|972011|983570|983571", + "text": "Deficiency of steroid 11-beta-monooxygenase" + }, + { + "baseId": "16210|16211|31916|44641|44645|44649|44651|44653|71453|304470|304472|304478|304479|304480|304484|304485|304487|304491|304492|304495|304508|304509|304510|304511|304516|304518|304519|304520|304527|304528|304541|304542|304547|304548|304552|304553|304554|304555|304569|304570|304571|304572|304573|304577|304580|304581|304583|304593|304594|304596|304598|304602|304605|308223|308224|308249|308254|308256|308261|308264|308270|308280|308281|308283|308284|308285|308289|308296|308310|308312|308315|308316|308321|308322|308323|313236|313241|313242|313245|313247|313248|313270|313277|313278|313281|313283|313285|313286|313297|313327|313328|313332|313333|313334|313335|313338|313339|313341|313342|313343|313344|313345|313346|313347|313348|313349|313350|313351|313355|313359|313361|313362|313369|313381|313384|313398|313400|313404|313407|313411|313418|313425|313428|313433|313445|313446|313448|313449|313454|313455|313456|313457|313462|313464|313467|313479|353825|428801|544674|544678|544696|620294|695381|711339|722896|750943|750948|766574|783007|899026|899027|899028|899029|899030|899031|899032|899033|899034|899035|899036|899037|899038|899039|899040|899041|899042|899043|899044|899045|899046|899047|899048|899049|899050|899051|899052|899053|899054|899055|899056|899057|899058|899059|899060|899061|899062|899063|899064|899065|899066|899067|899068|899069|899070|899071|899072|899073|899074|899075|899076|899077|899078|899079|899080|899081|899082|899083|899084|899085|899086|899087|900452|900453|900454|900455|919141|920251", + "text": "Hyperaldosteronism, familial, type I" + }, + { + "baseId": "16218|16225|27193|44641|44642|44643|44644|44646|44647|44648|44649|44650|44651|44652|44653|44654|44655|44656|44657|44658|44659|44660|276415|276799|304484|308905|309342|313241|313334|314024|314138|314160|314161|319911|320450|975788", + "text": "Congenital adrenal hyperplasia" + }, + { + "baseId": "16227|45727|152813", + "text": "Retinitis pigmentosa 36" + }, + { + "baseId": "16228", + "text": "Coronary artery spasm 3, susceptibility to" + }, + { + "baseId": "16229|16230|16231|16232|16233|38590|39802|39803|39804|360853|514082", + "text": "Anonychia" + }, + { + "baseId": "16234|16235|16236|16237|53012|53013|53016|174282|174283|174422|192270|229303|229307|271525|275022|297985|297986|297987|297991|300184|300185|300187|300190|300193|300194|300195|300201|304395|304402|304403|304409|304720|304725|304741|304746|304748|404768|496825|894616|894617|894618|894619|894620|894621|894622|894623|894624|894625|894626|894627|894628|896126", + "text": "Deafness, autosomal recessive 49" + }, + { + "baseId": "16237", + "text": "Deafness, neurosensory, autosomal recessive 49" + }, + { + "baseId": "16239|16240|211198|513281", + "text": "Coenzyme Q10 deficiency, primary, 3" + }, + { + "baseId": "16241|16242|16243|16244|16245|16246|16247|16248|16249|16250|253866|253867|253868|253869|253870|253871|253872|264435|268603|311254|311258|311263|311270|311271|311276|311281|311293|316667|316689|316690|316692|316693|316699|316710|316711|316724|316727|316742|316745|316746|316747|316749|316750|316762|316765|316770|316772|316775|322697|322698|322716|322718|322719|322735|322741|322748|322750|322751|322753|322755|322759|322764|322765|323404|323406|323415|323418|323419|323429|323430|323431|323432|323433|359871|407916|407917|415233|421802|425217|425218|460173|460972|525437|525521|525524|525662|525664|525798|563966|564749|566512|566516|566520|569772|569774|639182|639183|639184|701448|837334|837335|837336|837337|837338|866353|866354|866355|866356|866357|866358|866359|866360|866361|866362|866363|866364|866365|866366|866367|866368|866369|866370|866371|866372|866373|866374|866375|866376|866377|866378|866379|866380|866381|868514|868515|868516|925943|935190|959946", + "text": "Hepatic methionine adenosyltransferase deficiency" + }, + { + "baseId": "16251|21188|30977|30993|30995|30999|138212|336004|336005|336007|336014|336016|336017|336021|336026|336027|336030|336035|336044|336045|336051|336052|336060|336069|336070|336074|336075|336076|336086|336088|336091|345757|345767|345770|345777|345781|345782|345785|345787|345790|345794|345805|345806|345808|345819|345821|345822|345831|350232|350234|350238|350240|350242|350244|350245|350246|350247|350250|350251|350254|350255|350257|350258|350261|350262|350265|350266|350269|350270|350273|350276|350278|351284|351287|351288|351291|351293|351297|351298|351301|351302|351305|351306|361065|610611|613921|742476|861666|886402|886403|886404|886405|886406|886407|886408|886409|886410|886411|886412|886413|886414|886415|886416|886417|886418|886419|886420|886421|886422|886423|886424|886425|886426|886427|886428|886429|886430|886431|886432|886433|886434|886435|886436|886437|886438|886439|886440|886441|886442|919922|919923|920083|920111|966169|971151", + "text": "Pseudohypoparathyroidism type 1B" + }, + { + "baseId": "16252", + "text": "Memory quantitative trait locus" + }, + { + "baseId": "16253|16254|16255|16256|34577|34578|166128|283866|302509|302514|302515|302520|302523|302525|302529|302533|302538|302539|302544|302545|302546|302547|302551|302553|305782|305783|305792|305794|305816|305818|305836|305845|305847|305849|305876|305881|305883|305884|305886|305887|305888|305898|305901|305902|305903|305918|305920|305923|305930|310584|310585|310591|310597|310598|310601|310605|310608|310616|310620|310621|310628|310629|310634|310638|310639|310647|310648|310649|310652|310821|310823|310824|310828|310836|310840|310861|310863|310872|310876|310888|310894|310896|310898|310900|310913|364075|421629|425747|457036|457671|522844|522846|561146|561865|622887|687036|687037|687038|687039|692215|692216|700003|736078|782834|782836|833493|897872|897873|897874|897875|897876|897877|897878|897879|897880|897881|897882|897883|897884|897885|897886|897887|897888|897889|897890|897891|897892|897893|897894|897895|897896|897897|897898|897899|897900|897901|897902|897903|897904|897905|897906|897907|897908|897909|900345|900346|900347|900348", + "text": "Hypomyelination and Congenital Cataract" + }, + { + "baseId": "16257|16258|16259|16260|39790|39791|77000|77001|79917|133912|133912|133913|133913|133914|133915|133916|133916|133917|133918|133918|133919|133920|133921|133921|133922|133923|133924|133925|133925|152914|191276|191276|205722|205723|206728|206728|206730|206730|249528|249528|249529|249529|277295|277296|277299|277305|277309|277309|277311|277312|277313|277323|277326|277326|277328|277331|277331|277332|277347|277510|277511|277511|277512|277512|277520|277520|277530|277530|277532|277539|277544|277544|277547|277547|277550|277550|277552|277554|277554|278365|278366|278367|278370|278375|278380|278381|278381|278382|278382|278387|278388|278389|278390|278390|278392|278392|278393|278393|278394|278396|278400|278402|278410|278410|278413|278413|278414|278414|278416|278429|364534|434562|437799|447270|447277|447278|447279|447369|447410|447418|447421|447430|447466|447466|447469|447471|447476|447484|485986|492028|515262|515264|515265|515265|515274|515276|515306|515315|515351|515352|515354|536569|536569|537080|549502|556682|556684|556686|556688|556737|556737|556739|556741|557034|557036|557038|558222|558224|558226|558228|558230|558232|558234|576078|576078|576438|576441|578778|578784|578790|578790|578793|578794|578794|578803|578803|578804|578804|578811|578811|584195|584195|614196|614196|614197|614198|614199|614200|619965|619966|627059|627060|627061|627062|627063|627064|627065|627066|627067|627068|627069|627070|627071|627072|627073|627074|627075|627076|627076|650536|650592|677123|690409|690409|690412|690412|690415|690416|695016|695017|695019|695019|696253|696254|696256|696258|696261|718381|729937|731862|789877|794490|794490|822980|822981|822982|822983|822984|822985|822986|822987|822988|822989|822990|822991|822992|851237|858872|861588|861603|862754|862755|862756|862757|862758|862759|862760|862761|862762|862763|862764|862765|862766|862767|862768|862769|862770|862771|862772|862772|862773|862774|862775|865029|865030|865031|921739|921740|921741|930152|930153|930154|930155|941568|941569|941570|941571|941572|952138|952139|966155", + "text": "Kufor-Rakeb syndrome" + }, + { + "baseId": "16261|16261|16262|16262|16263|16264|16265|16266|101278|101279|101280|101281|101282|101282|101285|101285|101286|101286|101287|101287|101288|101288|177167|177299|177299|177431|194946|194946|195702|257332|257332|257333|257333|257335|257335|271293|271293|334835|334840|344709|344711|344713|344715|344715|349690|349693|349695|349695|349696|349696|349698|349701|349702|350689|350690|350690|350692|471367|533466|534028|571157|572868|575077|575077|620652|620653|648587|648588|648589|653118|653191|695841|695841|695842|695842|695843|695845|705393|705394|705395|705395|716866|757387|773012|800168|801196|848233|848234|852898|885829|885830|885831|885832|885833|885834|885835|885836|885837|885838|885839|885840|885841|885842|887428|919906|919907|958790", + "text": "Congenital dyserythropoietic anemia, type II" + }, + { + "baseId": "16261|16262|101282|101285|101286|101287|101287|101288|177299|194946|226247|257332|257333|257335|271293|344715|349695|349696|350690|533466|534028|571157|572868|575077|648587|648588|648589|653118|653191|695841|695842|695843|695845|705394|705395|716866|757387|848233|848234|852898|958790", + "text": "Cowden syndrome 7" + }, + { + "baseId": "16267|48120|464037|572784|702868|725663|725664|739207|739208|779716|779719|920332", + "text": "Craniolenticulosutural dysplasia" + }, + { + "baseId": "16268|227312|227313|544362|544363|544365|544372|544646|544648|544727|544729|544731|622382|917580", + "text": "Tumoral calcinosis, familial, normophosphatemic" + }, + { + "baseId": "16269|16269|16270|16271|16271|16272|16273|16274|16275|16275|16276|16276|16277|39789|39789|102394|102394|102395|102396|102396|102397|176990|176990|177253|177253|205376|205376|205377|205377|205378|247363|259899|259899|305403|305407|305409|305409|305411|305416|305417|305418|305420|305421|309247|309255|309255|309257|309258|309274|309279|309289|309290|309301|309302|309314|314506|314506|314511|314513|314515|314515|314517|314517|314531|314533|314535|314536|314537|314539|314542|314548|314554|314555|314558|314589|314589|314592|314592|314595|314595|314596|314597|314597|314601|314601|314602|314603|314605|314606|314610|314611|314612|314614|314623|314625|361294|407393|407394|407394|413894|415132|415132|488261|488261|495386|495386|513428|523172|523582|539012|544421|544423|544423|544430|544443|544447|544450|544728|544733|544734|544742|544747|544754|544754|544767|544772|544772|544774|544775|544779|544781|544782|544782|544783|544787|544789|544792|544795|544817|544820|544826|544830|544833|544833|544842|544843|544843|552124|562427|562958|565143|567933|621282|626178|637223|637224|637224|637225|637226|637227|711544|711544|711545|711545|711546|711546|711547|711548|711548|723110|723110|723111|723112|723112|723113|723113|723114|723115|723115|730577|736686|736686|736687|736687|744365|751172|751173|751175|751176|751176|751177|751177|751178|759728|766827|766827|766828|766831|766832|766832|775276|775334|783117|787737|790803|819962|819963|819964|819965|819966|819967|834781|834781|834782|834783|834783|834784|834785|834786|834786|834787|834788|834789|834790|834790|834791|834792|834793|834794|834795|856589|899645|899646|899647|899648|899648|899649|899650|899651|899652|899653|899654|899655|899656|899657|899658|899659|899660|899661|899662|899663|899664|899665|899666|899667|899668|899669|899670|899671|899672|899673|899674|899675|899676|899677|899678|899679|899680|899681|899682|899683|899684|899685|899686|899687|899688|899689|899690|899691|899692|899693|899694|899695|899696|900502|900503|925209|934318|934319|934320|934321|934322|934323|940105|940106|946077|946078|946079|946080|946081|946082|946083|946084|946085|946086|955422|955423|955424|955425|955426|955427|955428|955429|955430|963083|972012|972013|972014|972015|972016|972017|972018|972019|972020|972021|972022|972023|978471", + "text": "Mucopolysaccharidosis, MPS-III-C" + }, + { + "baseId": "16269|16270|16271|16275|16276|39789|102394|102396|176990|177253|205375|205376|205376|205377|205377|259899|305409|309255|309255|314506|314515|314517|314589|314592|314595|314597|314601|407394|415132|488261|495386|523172|523582|539012|544423|544754|544772|544782|544833|544843|562427|562958|565143|567933|621282|637223|637224|637225|637226|637227|711544|711545|711546|711547|711548|723110|723111|723112|723113|723114|723115|730577|736686|736687|744365|751172|751173|751175|751176|751177|751178|766827|766828|766831|766832|775276|783117|787737|819962|819963|819964|819965|819966|819967|834781|834782|834783|834784|834785|834786|834786|834787|834788|834789|834790|834791|834792|834793|834794|834795|899648|915033|919158|925209|934318|934319|934320|934321|934322|934323|940105|940106|946077|946078|946079|946080|946081|946082|946083|946084|946085|946086|955422|955423|955424|955425|955426|955427|955427|955428|955429|955430|962889|962890|962891|962892|962893", + "text": "Retinitis pigmentosa 73" + }, + { + "baseId": "16269|16275|20146|20150|39416|39752|39789|102394|195855|259899|265225|309255|309284|314503|314556|318311|326267|326268|326347|328513|332578|332641|334163|334224|338454|338457|338462|338481|344536|344539|344543|344545|345940|345941|345945|346332|346359|347721|358524|487839|544423|544781|562427|915033", + "text": "Sanfilippo syndrome" + }, + { + "baseId": "16276|16601|16604|16605|20146|20147|20150|39416|247363|264874|508893|513465|548897|620589|818746|818747|818748|818749", + "text": "Mucopolysaccharidosis" + }, + { + "baseId": "16278|980437", + "text": "Immunodeficiency due to defect in mapbp-interacting protein" + }, + { + "baseId": "16279|102123|102124|192553|256893|333267|333275|333277|333278|333282|333283|333284|343367|343371|343378|343379|343382|343383|343385|348648|348651|348658|348659|348661|348664|348665|348666|348673|348675|348678|348679|349718|349721|349722|349728|349729|349731|349732|349735|847554|880387|880388|880389|880390|880391|880392|880393|880394|880395|880396|880397|880398|880399|880400|880401|880402|880403|880404|880405|880406|880407|880408|880409|880410|880411|880412|880413|880742", + "text": "Age-related macular degeneration 6" + }, + { + "baseId": "16279|16280|16281|102123|102124|192553|204391|256893|333267|333275|333277|333278|333282|333283|333284|343367|343371|343378|343379|343382|343383|343385|348648|348651|348658|348659|348661|348664|348665|348666|348673|348675|348678|348679|349718|349721|349722|349728|349729|349731|349732|349735|590329|623353|880387|880388|880389|880390|880391|880392|880393|880394|880395|880396|880397|880398|880399|880400|880401|880402|880403|880404|880405|880406|880407|880408|880409|880410|880411|880412|880413|880742", + "text": "Cone-rod dystrophy 11" + }, + { + "baseId": "16282|16283|16284|16285|132077|132081|132088|132090|132092|132102|132103|132114|132118|132123|132124|132140|132147|132161|132171|132179|132182|132191|132191|132192|132193|132201|132204|132208|132208|132209|132218|132225|132237|132237|132240|132244|132250|132251|132255|132258|132268|132271|132278|132286|132288|132290|132291|133574|133576|133587|133590|133593|133601|133601|139840|142278|150970|151242|151249|151423|151688|153698|180735|180736|180742|180754|184177|184202|184207|184211|184213|184235|184239|184249|184286|186212|186220|186222|213153|214572|235150|235197|235209|235265|235280|242367|242396|334406|334409|342534|374972|377394|389266|389283|401785|466261|466269|466348|477581|478191|482931|484720|812845|818451|818569|818570|874991|874992|874993", + "text": "Fanconi anemia, complementation group N" + }, + { + "baseId": 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+ "text": "Familial cancer of breast" + }, + { + "baseId": "16284|132182|132221|132239|132267|153702", + "text": "PALB2-Related Disorders" + }, + { + "baseId": "16292|16293|16294|16295|16296|16297|16298|191720|266317|267759|268769|272369|272443|274096|365079|365080|365083|365084|365092|365163|365167|365174|365182|365254|365272|414799|421243|433768|433769|433772|433773|442843|447899|447903|447904|447910|447911|448048|448050|448057|448060|448065|448071|448080|448116|448118|448123|448126|448129|448132|448136|448197|448199|448209|448225|448227|448229|488684|492430|498470|513014|513243|515869|515872|515882|515889|515890|515894|515895|515898|515924|515927|515931|515935|515940|515995|515997|538947|557057|557266|557268|557270|557319|557321|557323|557325|557327|557329|557331|558511|558513|558515|623234|627843|627844|627845|627846|627847|627848|627849|627850|627851|627852|627853|627854|627855|627856|627857|627858|627859|627860|650661|650662|650751|685732|690598|690599|690600|690602|696745|707412|732456|788738|799220|823967|823968|823969|823970|823971|823972|823973|823974|823975|823976|823977|823978|823979|823980|851301|864414|864415|864417|864418|864420|864423|864425|864426|864427|864428|864429|864432|864434|922018|922019|922020|922021|922022|930487|930488|930489|939813|941941|941942|941943|941944|952412|952413|970168|970691|970692|981323|981324|981325|981326|981327", + "text": "Osteogenesis imperfecta type 8" + }, + { + "baseId": "16299|16300|199797|199798|254245|314553|314559|314560|314570|314576|314582|314583|314586|314590|314591|314598|314599|321252|321253|321258|321259|321260|321268|321270|321272|321273|321280|321282|321285|321287|327403|327413|327420|327432|327435|327436|327440|327456|327457|327461|327463|328458|328462|328463|328466|328481|328482|328492|328493|328501|328502|328506|328512|361534|439163|461348|566056|566066|570828|624449|640325|640326|640327|738150|784090|838758|838759|838760|838761|868264|868265|868266|868267|868268|868269|868270|868271|868272|868273|868274|868275|868276|868277|868671|926343|935689|935690|947581|947582|947583|947584|969709|971504", + "text": "Aicardi Goutieres syndrome 3" + }, + { + "baseId": "16299|40348|67271|181292|214847|244018|389153|536164|567199|581716|590734|612486|626060|626270|626445|626446|676962|676969|679673|679675|679676|679677|679679|679680|679681|679682|679683|679685|679686|679688|679689|682748|682758|789258|802086|802087|802089|802095|805083|805137|964209|964234|964287|964300|964342|964380|964452|964478|964522|964597|964679|971283|983454|983680|983681", + "text": "Neurodevelopmental delay" + }, + { + "baseId": "16301|16302|188848|227352|254859|270631|319927|319929|319933|319935|319936|319937|319941|319944|319948|328473|328475|328476|328483|334977|334980|336819|336831|336834|360007|373859|527818|528154|528317|566169|567722|568619|568621|568625|577339|620473|642018|642019|642020|642021|642022|642023|642024|642025|642026|642027|642028|652296|652377|652406|652842|693393|693394|695602|702720|739065|769587|840978|840979|858760|871398|871399|871400|871401|871402|871403|871404|871405|871406|871407|871408|871409|871410|926940|926941|926942|936478|940292|948406|948407|957119|970145|980473", + "text": "Aicardi Goutieres syndrome 2" + }, + { + "baseId": "16301|39562|76972|102135|102136|131928|251190|265435|290894|290897|291832|291833|291841|295022|295410|295418|295421|295439|328464|328494|328502|328506|334944|335369|345200|348153|349391|349941|441638|571210|648644|648648|648656|731341|757494|757496|757497|757501|773096|780209|848369|848379|980019|980020", + "text": "Aicardi Goutieres syndrome" + }, + { + "baseId": "16303|16304|16306|16307|34717|102516|102517|102518|102520|102521|102522|102523|177276|177503|177504|191110|254845|265391|268147|373338|413358|413359|429488|445137|489314|489420|535721|567225|572250|585857|641632|688158|693349|695595|702661|702662|725450|753782|820551|840619|840620|840621|840622|871000|871001|871002|871003|871004|871005|871006|871007|871008|871009|871010|871011|871012|871013|871014|871015|871016|871017|871018|871019|871020|871021|871022|871023|871024|871025|871026|871027|871028|871029|871030|871031|871032|871033|871034|871035|871036|871037|871038|871039|871040|871041|871042|871043|871044|871045|871046|871047|871048|871049|871050|871051|871052|871053|871054|871055|871056|871057|871058|871059|871060|871061|871062|871063|871064|871065|871066|871067|871068|871069|872323|872324|872325|926823|976015", + "text": "Peters plus syndrome" + }, + { + "baseId": "16308", + "text": "Association with systemic lupus erythematosus" + }, + { + "baseId": "16309|16310|16311|221934|397304|397474|475211|475220|475221|475245", + "text": "Colorectal cancer 1" + }, + { + "baseId": "16312|16312|16313|16313|16314|16315|16315|16316|16317|16318|16319|16321|16321|134353|134356|134357|134359|134360|134362|134364|193756|193758|195784|195785|195786|195788|195789|205737|205737|205738|205738|207118|246964|251442|251449|251450|251451|251468|251469|251470|251471|265661|265854|267408|269333|269335|270556|359625|406429|406430|406431|421486|421486|428295|428296|440848|443612|443613|443614|452822|453125|453129|453131|453133|453135|453137|453138|453147|453149|453390|453395|453397|453498|453503|453506|453519|453527|453610|453881|453888|453891|453895|453896|453896|453905|453907|500822|513273|519878|519881|519887|519888|519891|519892|519896|519897|519901|519902|519904|519912|520134|520136|520142|520144|520147|520166|520170|520174|520175|535238|535270|538369|538369|552078|552079|552079|559659|559661|559663|559665|559667|559669|559671|559822|559824|559826|559828|559830|561997|561998|562001|563662|563663|563667|563675|563681|632159|632160|632161|632162|632163|632164|632165|632166|632167|632168|632169|632170|632171|632172|632173|632174|632175|632176|632177|632178|632179|632180|632181|632182|632183|632184|632185|632186|632187|632188|632189|632190|632191|632192|632193|651111|676959|689753|689754|691550|691551|691553|691554|691555|691556|691560|691561|691562|695230|695231|695232|695234|698498|698499|698500|720950|720951|730286|748925|748929|764453|764456|777445|792748|792749|800954|801607|819479|819480|829074|829075|829076|829077|829078|829079|829080|829081|829082|829083|829084|829085|829086|829087|829088|829089|829090|829091|829092|829093|829094|829095|829096|829097|829098|829099|850984|851498|851602|923493|923494|923495|923496|923497|923498|923499|923500|923501|923502|932297|932298|932299|932300|932301|932302|932303|932304|932305|943961|943962|943963|943964|943965|943966|953762|953763|959722|959723|960536", + "text": "Myasthenia, limb-girdle, familial" + }, + { + "baseId": 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+ "text": "Congenital myasthenic syndrome" + }, + { + "baseId": 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+ "text": "Pena-Shokeir syndrome type I" + }, + { + "baseId": "16313|251471|443612", + "text": "Fetal akinesia deformation sequence 3" + }, + { + "baseId": "16322|190079|190080|190081|190633|371851|372605|372869|374641|421908|461651|461865|462211|503563|526694|526695|526698|526712|526941|527267|565087|565089|640658|640659|640660|640661|640662|640663|640664|713388|713389|724948|738502|753162|779751|784291|839359|839360|839362|839363|839364|839365|839366|839367|839368|839369|850699|851931|926479|926480|926481|935931|935932|935933|947800|947801|947802|947803|947804|947805|947806|956762", + "text": "Combined immunodeficiency due to ORAI1 deficiency" + }, + { + "baseId": "16323|16324|16325|16326|39778|139380|194475|227472|272473|273439|280357|280358|280363|280364|280367|280368|280727|280730|280731|280732|282057|282060|282061|282062|282075|282076|282077|282082|282171|282179|282186|282188|365211|365212|405151|414791|442807|442808|498391|538334|552184|614216|682814|732359|858941|864284|864285|864286|864287|864288|864289|864290|864291|864292|864293|864294|864295|864296|864297|865175", + "text": "Hyperphosphatasia with mental retardation syndrome 1" + }, + { + "baseId": "16323|270363|282089|353102|513588|654540", + "text": "Hyperphosphatasia-intellectual disability syndrome" + }, + { + "baseId": "16327|190662|495084|583330|622442|626982|626983|650550|696204|952114", + "text": "Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency" + }, + { + "baseId": "16328|136231|136232|136233|222007|240895|311846|311848|311849|311850|311861|311862|311863|311864|311869|311872|311873|311874|311875|317461|317478|317486|317487|317491|323498|323501|323504|323506|323509|323511|323512|324135|324137|324140|324143|324149|324152|324163|324170|324172|324174|324176|324192|324193|324194|324202|837570|866674|866675|866676|866677|866678|866679|866680|866681|866682|866683|866684|866685|866686|866687|866688|866689|866690|866691|866692|866693|866694|866695|868547|868548|868549|919310", + "text": "Spastic paraplegia 33, autosomal dominant" + }, + { + "baseId": "16328|971426", + "text": "Spastic tetraparesis" + }, + { + "baseId": "16329", + "text": "Deafness, mitochondrial, modifier of" + }, + { + "baseId": "16329|16330|16331|16332|16333|39776|39777|141411|141412|141413|141414|141416|141417|141418|141419|141420|141422|141423|141424|191073|211945|211946|211948|211950|211951|211954|211955|211956|213662|271100|338448|338450|338451|338452|338459|338463|338464|338467|338470|338473|338476|348064|348068|348069|348071|348073|348075|348079|348082|348087|351775|351781|351783|351784|351785|351787|351788|352639|352640|352641|352642|352643|352644|352645|352646|352647|352648|352649|352650|379866|415721|434687|491567|549073|549077|549079|552233|584105|584342|587178|620695|773591|776754|776834|786618|788096|798773|849393|891429|891430|891431|891432|891433|891434|891435|891436|891437|891851|891852|961793|980058|980059|980060|980061|980062", + "text": "Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins" + }, + { + "baseId": "16334", + "text": "Seborrhea-like dermatitis with psoriasiform elements" + }, + { + "baseId": "16335|45584|141330|361330|581733|792816", + "text": "Macrocephaly, alopecia, cutis laxa, and scoliosis" + }, + { + "baseId": "16336|16337|16338|16339|16340|16341|16342|53037|53039|53040|53041|53042|172797|172799|172937|228548|273171|275039|283174|283175|283184|283186|283190|283901|283903|283904|285666|285668|285673|285674|285676|286059|286066|286071|353548|490780|553250|881714|881715|881716|881717|881718|881719|881720|881721", + "text": "Deafness, autosomal recessive 59" + }, + { + "baseId": "16343|16344|16345|16346|16347|16348|16349|16350|205190|227410|654900|980967", + "text": "Corneal endothelial dystrophy" + }, + { + "baseId": "16346|16351|16352|16353|16354|16355|16356|16357|16358|257347|335150|335155|335160|335162|344936|344949|344951|349799|350819|350823|350828|350829|350833|513381|705428|705429|705430|705432|716899|716900|716901|728589|742316|742318|742319|742320|742324|745107|757418|757421|757423|757425|757426|760649|760946|773037|773038|773040|773041|773048|773052|773054|773055|776769|780043|786336|786348|793835|793836|885959|980017|980018", + "text": "Corneal dystrophy-perceptive deafness syndrome" + }, + { + "baseId": "16359|16360|16361|16362", + "text": "Corneal dystrophy, Fuchs endothelial, 4" + }, + { + "baseId": "16363|188053|213463|222816|410649|847886|961634|962984", + "text": "Charcot-Marie-Tooth disease type 2B2" + }, + { + "baseId": 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+ "text": "Charcot-Marie-Tooth disease, type 2" + }, + { + "baseId": "16363|141903|141904|199858|213462|213463|213464|222816|222817|222818|379613|410649|471108|610574|610575|800146|800147|961634|982190|982191", + "text": "Basel-Vanagaite-Smirin-Yosef syndrome" + }, + { + "baseId": 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+ "text": "Diabetes mellitus, neonatal, with congenital hypothyroidism" + }, + { + "baseId": "16365|17080|20359", + "text": "Bardet-Biedl syndrome 1, modifier of" + }, + { + "baseId": "16366|239515|239516|239517|294803|294805|294810|294811|294812|294813|294819|294820|294821|294828|294830|296437|296444|296446|296452|296462|296468|296469|296479|296482|296487|296492|296494|296495|296511|296522|296524|300192|300196|300209|300212|300216|300219|300228|300230|300231|300234|300236|300246|300249|300261|300281|300284|300286|394662|453628|453635|453898|453903|454432|454442|454448|454449|520165|520171|520173|520308|520546|520551|520594|538982|559841|559843|632536|632537|632538|685164|686567|799388|829562|829563|892593|892594|892595|892596|892597|892598|892599|892600|892601|892602|892603|892604|892605|892606|892607|892608|892609|892610|892611|892612|892613|892614|892615|892616|892617|892618|892619|892620|892621|892622|892623|892624|892625|892626|892627|892628|892629|892630|896011|896012|896013|918913|923625|932485|944156", + "text": "Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive" + }, + { + "baseId": "16367|16368|16370|16371|39774|39775|44415|44416|78954|177141|177273|177405|177505|186848|186849|186850|186851|186852|192540|213010|213011|213012|214075|214076|214077|226933|237357|254720|254721|254723|260913|268121|272492|318501|318502|318504|318505|318508|318509|318510|326670|326679|326684|326687|326688|326690|326693|326694|332885|332890|332893|332894|332898|332900|332909|332911|332912|332914|334567|334569|334570|334573|334581|334588|334589|334590|358107|358108|358109|358110|358111|358112|358113|358114|358115|358116|358117|358118|358119|358120|358121|358122|358123|358124|358125|358126|358127|399055|399208|404810|408745|426019|426020|429449|429451|481238|487588|491371|493542|512858|527371|546695|546697|546711|546712|546713|546715|546722|546724|546729|546735|546736|546855|546857|546858|546861|546865|546877|546879|546881|546882|547014|547027|547039|547044|547048|547205|547209|547210|547213|547221|547234|547238|547241|547244|547255|547260|547264|547266|552165|572037|572041|572062|587963|621383|621384|641389|672028|684346|684348|684349|684353|688047|688050|688052|688053|693286|753614|769310|791276|791277|870453|870454|870455|870456|870457|870458|870459|870460|870461|870462|870463|870464|870465|870466|870467|870468|870469|870470|870471|870472|963363|974496|979294|979295|979296|979297|979298|979299|979300|979301", + "text": "Bardet-Biedl syndrome 10" + }, + { + "baseId": "16367", + "text": "Bardet-biedl syndrome 6/10, digenic" + }, + { + "baseId": "16367|17701|27182|27183|27184|27185|27186|27187|27188|34559|34586|44416|44420|101641|102025|102026|102100|102398|102540|106441|106442|106468|106472|131912|131913|131914|176959|177222|177250|177505|177507|177508|177510|177512|177514|186836|186838|190621|191287|191594|191848|192577|193731|207477|212952|214073|214074|221320|227345|237357|237445|241206|251316|251317|251321|251325|251327|251330|252807|252809|252810|252814|252816|254256|254260|254262|255348|255822|255825|268120|269617|270214|272301|272771|273557|292180|314715|314716|314717|314721|314722|314726|314729|314731|314739|314744|321437|321440|321441|321442|321450|321451|321452|321454|321459|321461|327571|327576|327581|327599|328643|328647|328656|328657|358031|358032|358033|358034|358035|358036|358037|358038|358039|358040|358041|358042|358043|358044|358045|358046|358047|358048|358049|371619|372535|390016|398348|398446|428273|429277|429278|429279|437899|453263|461402|512811|512824|512858|513096|546141|546143|546144|546146|546149|546150|546154|546160|546453|546459|546467|546475|546478|546583|546585|546589|546591|546594|546595|546597|546600|546798|546802|546808|546810|546820|551566|566095|612094|640363|640364|684267|687817|687818|687821|690011|690012|693098|695539|752844|791156|791157|801718|838813|838814|838818|838820|838822|838824|852623|857426|868333|868334|868335|868336|868337|868338|868339|868340|868341|868342|868343|868344|868345|868346|868347|868348|868349|868350|868351|868352|868353|868354|906256|906287|906288|926358|961007|969325|972103|972104|972105|972106|972107|972108|972109|972110|979058|979059|979060|979061|979062|979063|979064|979065|979066|979067|979068|979069", + "text": "Bardet-Biedl syndrome 1" + }, + { + "baseId": "16369", + "text": "Bardet-biedl syndrome 1/10, digenic" + }, + { + "baseId": "16372|16372|16372|16373|16374|16376|16376|16378|16378|16384|22927|71368|71372|71377|71378|102062|102066|105739|105741|106469|106470|106471|131783|131784|131789|131790|131794|131801|140430|140432|140433|152874|166166|177012|177012|177013|177143|177274|177571|177572|191726|193150|193874|193875|194245|194245|194246|195425|209353|214321|214322|214323|214324|214325|214325|214326|214327|214327|214328|214329|214330|214330|214331|214332|214333|214334|214335|214336|214337|214338|214339|214340|214341|215459|237416|241579|241580|241581|241582|254740|254742|254760|254761|254763|264538|265486|265486|265487|266616|268040|270185|271034|271034|274283|318575|318578|318583|318585|318587|318599|318602|318607|318610|326795|326802|326805|326809|326815|326818|326819|326830|326832|326833|326838|326844|326848|326850|326860|326862|326882|326888|332974|332976|332982|332983|332987|332988|332990|332993|332994|333001|333002|334647|334649|334653|334657|334658|334659|334671|334674|334680|334684|360055|360950|363660|364169|373481|375454|389204|408763|408772|408772|432311|433122|442556|462516|463244|488743|514649|527675|572093|576354|622900|622901|622902|641416|684357|688062|688063|688070|688072|760254|792790|840370|840371|840383|870494|870495|870496|870497|870498|870499|870500|870501|870502|870503|870504|870505|870506|870507|870508|870509|870510|870511|870512|870513|870514|870515|870516|870517|870518|870519|870520|872295|919469|919470|919471|919472|920320|962819|965740|970232|980946", + "text": "Joubert syndrome 5" + }, + { + "baseId": "16372|16376|16378|16384|16422|102062|102066|106469|106470|106471|131783|131784|131789|131790|131794|131801|131836|140430|140432|140433|152874|177012|177012|177013|177143|177274|177572|191726|193150|193874|193875|194245|194245|194246|195425|214280|214282|214322|214325|214327|214330|215459|237416|241579|241580|241581|241582|254740|254742|254761|254763|265486|265486|265487|266616|268040|270185|271034|271034|318575|318578|318583|318585|318587|318599|318602|318607|318610|326795|326802|326805|326809|326815|326818|326819|326830|326832|326833|326838|326844|326848|326850|326860|326862|326882|326888|332974|332976|332982|332983|332987|332988|332990|332993|332994|333001|333002|334647|334649|334653|334657|334658|334659|334671|334674|334680|334684|360055|363660|364169|373481|375454|408763|408772|408772|433122|462516|463244|489341|513323|514649|527675|572093|684357|688062|688063|688070|688072|760254|792790|840370|840383|870494|870495|870496|870497|870498|870499|870500|870501|870502|870503|870504|870505|870506|870507|870508|870509|870510|870511|870512|870513|870514|870515|870516|870517|870518|870519|870520|872295", + "text": "Bardet-Biedl syndrome 14" + }, + { + "baseId": "16372|16372|16376|16378|16379|16380|16381|16383|71368|71369|71370|71371|71372|71373|71374|71375|71376|71377|71378|71379|102062|102066|106469|106470|106471|131783|131784|131789|131790|131794|131801|140430|140432|140433|152874|177012|177012|177013|177143|177274|177572|191726|193150|193874|193875|194245|194245|194246|195425|209353|214325|214327|214330|214330|214337|214339|215459|237416|241579|241580|241581|241582|254740|254742|254761|254763|260915|265486|265486|265487|266616|268040|270185|271034|271034|318575|318578|318583|318585|318587|318599|318602|318607|318610|326795|326802|326805|326809|326815|326818|326819|326830|326832|326833|326838|326844|326848|326850|326860|326862|326882|326888|332974|332976|332982|332983|332987|332988|332990|332993|332994|333001|333002|334647|334649|334653|334657|334658|334659|334671|334674|334680|334684|363660|364169|373481|375454|408763|408772|408772|433122|462516|463244|514649|527675|536196|572093|609863|672202|672203|684357|688062|688063|688070|688072|760254|792790|840370|840383|870494|870495|870496|870497|870498|870499|870500|870501|870502|870503|870504|870505|870506|870507|870508|870509|870510|870511|870512|870513|870514|870515|870516|870517|870518|870519|870520|872295|948198|971593|971594", + "text": "Meckel syndrome, type 4" + }, + { + "baseId": "16372|16372|16375|16376|16378|16378|102062|102066|106469|106470|106471|131783|131784|131789|131790|131794|131801|140430|140432|140433|152874|177012|177012|177013|177143|177274|177572|191726|193150|193874|193875|194245|194245|194246|195425|209353|214322|214325|214327|214330|215459|237416|241579|241580|241581|241582|254740|254742|254761|254763|265486|265486|265487|266616|268040|270185|271034|271034|318575|318578|318583|318585|318587|318599|318602|318607|318610|326795|326802|326805|326809|326815|326818|326819|326830|326832|326833|326838|326844|326848|326850|326860|326862|326882|326888|332974|332976|332982|332983|332987|332988|332990|332993|332994|333001|333002|334647|334649|334653|334657|334658|334659|334671|334674|334680|334684|363660|364169|373481|375454|408763|408772|408772|433122|462516|463244|514649|527675|572093|684357|688062|688063|688070|688072|760254|792790|840370|840383|870494|870495|870496|870497|870498|870499|870500|870501|870502|870503|870504|870505|870506|870507|870508|870509|870510|870511|870512|870513|870514|870515|870516|870517|870518|870519|870520|872295", + "text": "Senior-Loken syndrome 6" + }, + { + "baseId": "16372|16376|16376|16377|16378|16378|16379|16382|102062|102066|106469|106470|106471|131783|131784|131789|131790|131794|131801|140430|140432|140433|152874|166158|166159|166166|166167|177012|177012|177013|177143|177274|177572|191726|193150|193874|193875|194245|194245|194246|195425|209353|214325|214327|214330|215459|237416|241579|241580|241581|241582|254740|254742|254761|254763|265486|265486|265487|266616|268040|270185|271034|271034|318575|318578|318583|318585|318587|318599|318602|318607|318610|326795|326802|326805|326809|326815|326818|326819|326830|326832|326833|326838|326844|326848|326850|326860|326862|326882|326888|332974|332976|332982|332983|332987|332988|332990|332993|332994|333001|333002|334647|334649|334653|334657|334658|334659|334671|334674|334680|334684|363660|364169|373481|375454|408763|408772|408772|433122|445093|462516|463244|514649|527675|551568|572093|684357|688062|688063|688070|688072|760254|792790|802180|818301|840370|840383|870494|870495|870496|870497|870498|870499|870500|870501|870502|870503|870504|870505|870506|870507|870508|870509|870510|870511|870512|870513|870514|870515|870516|870517|870518|870519|870520|872295", + "text": "Leber congenital amaurosis 10" + }, + { + "baseId": "16378|360950", + "text": "Molar tooth sign on MRI" + }, + { + "baseId": "16378|360941|360950", + "text": "Central hypotonia" + }, + { + "baseId": "16378|16432|18513|18846|45840|105416|243993|260323|267852|360901|360950|361027|361067|361069|361097|361107|496932|513979|514086|514138|568036|624881|792733|800988|822308", + "text": "Nystagmus" + }, + { + "baseId": "16378|17397|105349|181401|214327|263309|270311|360950|361108|513929", + "text": "Blindness" + }, + { + "baseId": "16381|25032|45818|683339|966695|966696|966699|966722|966733|966734|966735", + "text": "Severe hydrocephalus" + }, + { + "baseId": "16381|17203|19147|19147|102335|186709|186713|186713|186718|221366|255586|360861|360862|360862|360863|360880|360881|360987|360990|360991|360992|360993|417656|427500|439930|513954|514054|514055|514056|514058|514059|514085|514102|551414|551415|611473|624327|683810|686889|816408|816410|861051|861509|861524|906257|965434|965435|965436|965437|966705|966706|966722|976700", + "text": "Polycystic kidney disease" + }, + { + "baseId": "16381|683339|966699|966705|966706|966707|966708|966722", + "text": "Encephalocele" + }, + { + "baseId": "16385", + "text": "Caudal regression syndrome" + }, + { + "baseId": "16386|16387|23220|24091|24092|40597|40598|40599|181532|181533|181536", + "text": "Neural tube defects, susceptibility to" + }, + { + "baseId": "16388|48153|48154|48155|48156|48156|48157|249387|249388|249389|249390|249391|249392|276354|276355|276360|276362|276363|276366|276368|276369|276372|276375|276377|276387|276580|276583|276584|276586|276592|276592|276594|276595|276596|276611|276612|276615|277052|277063|277065|277066|277069|277072|277079|277083|277093|277096|277105|277110|277118|277124|277125|277126|277127|277153|277154|277155|277171|277172|277174|277175|277176|277181|277183|277184|277186|277197|277198|277199|277201|277203|277206|277207|277224|277227|277233|586023|614182|614183|614184|614185|614186|614186|619951|620705|622300|718192|731704|745669|816300|862206|862207|862208|862209|862210|862211|862212|862213|862214|862215|862216|862217|862218|862219|862220|862221|862222|862223|862224|862225|862226|862227|862228|862229|862230|862231|862232|862233|862234|862235|862236|862237|862238|862239|862240|862241|862242|862243|862244|862245|862246|862247|862248|862249|862250|862251|862252|864974|864975|864976|864977|980433", + "text": "Ectopia lentis 2, isolated, autosomal recessive" + }, + { + "baseId": "16389|16390|16391|16392", + "text": "Autoimmune disease 6" + }, + { + "baseId": "16393|134067|208545|208553|208555|208558|230984|580481|622451|816491|919832|919833|971119|972798", + "text": "Mental retardation, autosomal recessive 3" + }, + { + "baseId": "16394|16395|16396|16397|16398|16399|133792|133793|215335|227703|237193|237246|237311|268309|268444|268563|268564|268779|268833|268955|270020|270927|271115|271327|272063|272940|273656|299657|299661|299663|299665|299666|299668|299673|299675|299683|299684|299688|299690|299696|299698|299711|299712|299715|299716|299719|302257|302263|302268|302273|302277|302278|302282|302283|302291|302300|302302|302303|302311|306654|306656|306663|306666|306667|306674|306683|306687|306688|306692|306694|306695|306705|306706|306718|306719|306720|306721|306730|306732|306955|306957|306964|306965|306966|306968|306970|306971|306972|306974|306976|306977|306978|306980|306994|307008|363666|368543|368544|370313|415038|428605|443937|455467|455476|455478|455479|455482|455483|455561|455572|455574|455579|455580|456071|456087|456089|456092|456305|456311|456312|456314|456317|456322|490849|511649|521512|521514|521520|521522|521526|521530|521536|521537|521811|521817|521818|521820|521822|521888|521891|522189|522190|522196|522197|522200|522205|522210|522212|522218|560513|560670|560672|560674|560676|560751|560753|563491|563500|563504|565248|565538|565539|565542|578445|586561|634785|634786|634787|634788|634789|634790|634791|634792|634793|634794|634795|634796|634797|634798|634799|634800|634801|634802|699478|710357|710358|735555|735556|735557|735558|765603|765607|765608|782500|782501|782502|787377|790607|792759|831762|831763|831764|831765|831766|831767|831768|831769|831770|831771|831772|831773|831774|831775|831776|831777|831778|831779|831780|831781|831782|831783|831784|831785|831786|851068|895680|895681|895682|895683|895684|895685|895686|895687|895688|895689|895690|895691|895692|895693|895694|895695|895696|895697|895698|895699|895700|895701|895702|895703|895704|895705|895706|895707|895708|895709|895710|895711|895712|895713|895714|895715|895716|895717|895718|895719|895720|896215|924309|924310|924311|924312|924313|924314|933256|933257|933258|933259|933260|933261|933262|933263|933264|933265|944954|944955|944956|944957|944958|944959|944960|944961|954406|954407|959801|972789|980897", + "text": "Succinate-semialdehyde dehydrogenase deficiency" + }, + { + "baseId": "16400|16401|16402|280525|280526|280531|280532|280539|280540|280544|280545|280546|280962|280983|280987|281001|281005|281006|281010|281011|282281|282282|282283|282284|282288|282307|282498|282499|282515|282526|282535|282537|282543|282544|282550|539120|539121|551674|823965|864383|864384|864385|864386|864387|864388|864389|864390|864391|864392|864393|864394|864395|864396|864397|864398|864399|864400|864401|864402|864403|864404|864405|864406|864407|864408|864409|864410|864411|864412|864413|918532|962667", + "text": "Hypomagnesemia 5, renal, with ocular involvement" + }, + { + "baseId": "16403", + "text": "Prostate cancer, hereditary, 12" + }, + { + "baseId": "16404|16405|16406|16408|16409|16412|16415|16416|16417|16422|70570|71401|71402|71403|71404|71405|71406|71407|71408|71409|71410|71411|71412|71413|71414|71415|71416|71417|71418|71419|71421|71422|71423|71426|71427|71428|102422|102423|131831|131833|131834|131836|131839|212651|214280|214282|214287|243906|253194|253195|253203|253209|253212|253213|270862|306007|306009|306010|306015|306017|306035|310036|310037|310038|310039|315373|315374|315375|315376|315377|315516|315517|315527|315531|315532|315535|315541|444309|489341|552127|637489|672205|900150|900151|900152|900153|900154|900155|900156|900157|900518|900519|900541|900542|900543|900544|900545|900546|900547|900548|900549|903276|903277|961004|970888", + "text": "Meckel syndrome, type 3" + }, + { + "baseId": "16407|16410|16411|16412|16413|16414|16415|16416|16417|16418|16420|16421|16422|16422|16424|16425|16426|39765|71401|71412|71422|71426|102422|102423|131833|131834|131836|207574|212651|212652|214270|214271|214272|214273|214274|214275|214276|214277|214278|214279|214280|214280|214281|214282|214282|214283|214284|214285|214286|214287|214288|214289|214290|214291|214292|214293|214294|227327|243906|253194|253195|253203|253209|253212|253213|270862|306007|306009|306010|306015|306017|306035|310036|310037|310038|310039|315373|315374|315375|315376|315377|315516|315517|315527|315531|315532|315535|315541|370404|444309|486823|486834|486835|489341|511772|623148|637489|680065|802166|900150|900151|900152|900153|900154|900155|900156|900157|900518|900519|900541|900542|900543|900544|900545|900546|900547|900548|900549|903276|903277|906253", + "text": "Joubert syndrome 6" + }, + { + "baseId": "16415|16422|71401|71422|620309", + "text": "TMEM67-Related Disorders" + }, + { + "baseId": "16415|16416|16422|444309|583167|919176|919177|920257", + "text": "RHYNS syndrome" + }, + { + "baseId": "16416", + "text": "Bardet-Biedl syndrome 14, modifier of" + }, + { + "baseId": "16416|16421|16422|16422|16423|16424|102422|102423|131833|131834|131836|212651|214280|214282|214287|221800|243906|253194|253195|253203|253209|253212|253213|270862|306007|306009|306010|306015|306017|306035|310036|310037|310038|310039|315373|315374|315375|315376|315377|315516|315517|315527|315531|315532|315535|315541|444309|489341|637489|900150|900151|900152|900153|900154|900155|900156|900157|900518|900519|900541|900542|900543|900544|900545|900546|900547|900548|900549|903276|903277|962718|962719", + "text": "Nephronophthisis 11" + }, + { + "baseId": "16422|186713|214282|360844|360880|360915|360988|360994|971020", + "text": "Renal cyst" + }, + { + "baseId": "16422|19147|214282|360881", + "text": "Oligohydramnios" + }, + { + "baseId": "16422|17315|31366|31371|31377|31378|31379|32405|32434|32501|32502|53428|76763|192309|214282|215768|226497|263204|263208|263226|263258|263278|263301|263313|263402|263406|325021|361089|407722|453069|511532|514190|536665|590060|590063|590095|679598|679599", + "text": "14 conditions" + }, + { + "baseId": "16428|16429|16429|16430|16430|16431|16431|16432|71252|71253|71254|71256|71257|71258|71258|71259|71261|71262|71263|71263|71264|71264|71266|71266|131803|131804|131806|181163|181164|186262|186263|191265|191933|192033|193638|196045|208403|208405|208405|214363|214364|214364|214367|214367|222686|222686|222687|237090|237473|237473|242824|242825|242825|256280|256281|256283|256284|256285|256287|256288|256290|256292|260473|265360|265781|265781|265876|271121|271440|271734|272946|275520|329155|329156|329157|329161|339301|339303|339303|345175|345176|345181|345182|346571|346573|346576|346576|346578|346579|346580|346583|346584|346586|358457|358458|429991|429994|438996|438996|445833|468480|493136|536949|536950|548215|548216|548218|548253|548261|548273|548279|548558|548563|548566|548568|548571|548577|548579|548579|548992|548999|549000|549001|549004|549005|585568|588985|646234|688796|688799|688802|690181|845657|845660|852892|877946|877947|877948|877949|877950|877951|877952|877953|877954|877955|877956|877957|877958|880551|880552|880553|880554|906269|938039|979913", + "text": "Meckel syndrome type 1" + }, + { + "baseId": "16429|16430|16431|16431|16432|16432|16433|71256|71258|71263|71264|131803|131804|131806|181163|181163|181164|186263|191265|191933|192033|193638|208403|208405|214363|214364|214364|214367|214367|222686|222687|237090|237473|237473|242824|242825|242825|256280|256281|256283|256284|256285|256288|256290|256292|265360|265781|271121|329155|329156|329157|329161|339301|339303|339303|345175|345176|345181|345182|346571|346573|346576|346576|346578|346579|346580|346583|346584|346586|358457|358458|429994|438996|438996|490946|548215|548216|548218|548253|548261|548273|548279|548558|548563|548566|548568|548571|548577|548579|548992|548999|549000|549001|549004|549005|588985|688796|688799|877946|877947|877948|877949|877950|877951|877952|877953|877954|877955|877956|877957|877958|880551|880552|880553|880554", + "text": "Bardet-Biedl syndrome 13" + }, + { + "baseId": "16429|16430|16431|16432|71256|71258|71263|71264|131803|181163|186262|186263|191265|208405|214363|214364|214364|214367|222686|222687|237090|237473|242825|249226|249228|256280|256281|256284|256288|265781|339303|346576|346583|358457|358458|438996|548215|548216|548218|548253|548261|548273|548279|548558|548563|548566|548568|548571|548577|548579|548992|548999|549000|549001|549004|549005", + "text": "Joubert syndrome 28" + }, + { + "baseId": "16432|40348|137063|137064|137065|178412|178416|181434|181447|209338|226495|226500|226502|243981|243988|263200|263231|263248|263249|263252|263254|263255|263262|263323|263332|263335|263388|263782|263783|264319|360955|361130|406053|408757|415099|417657|514041|514086|514182|514185|514194|514210|551445|581716|583203|583204|677223|682488|961915|961916|961917|969264|969266", + "text": "Muscular hypotonia" + }, + { + "baseId": "16432|28860|46777|70943|141188|141189|191624|191625|191626|207480|214364|236899|252842|252844|252845|252846|252847|252848|252849|252850|252854|252855|252856|252860|252864|252866|252868|252873|252874|252875|252876|252880|252881|259861|259864|263337|267367|268321|268762|269149|272221|273308|302938|302939|302940|302941|302943|302944|302947|302952|302961|302966|302968|302970|302973|302977|302978|302982|302983|302990|302992|302994|303006|303007|303011|303020|303022|303024|303026|303029|303033|303034|303040|303041|303046|303047|303048|303049|303053|306259|306260|306264|306265|306266|306267|306268|306269|306271|306272|306273|306274|306275|306276|306287|306290|306294|310985|310988|310989|311012|311032|311033|311042|311058|311061|311068|311070|311071|311099|311107|311108|311109|311112|311114|311133|311135|311142|311143|311146|311148|311149|311156|311157|311164|311245|311246|311248|311252|311257|311259|311260|311261|311262|311264|311265|311266|311267|311268|311269|311272|311274|311277|311278|311279|311280|311282|311283|311284|311285|311286|311287|311288|311289|311290|311295|353817|353818|502039|514086|540582|692239|700067|700070|898063|898064|898065|898066|898067|898068|898069|898070|898071|898072|898073|898074|898075|898076|898077|898078|898079|898080|898081|898082|898083|898084|898085|898086|898087|898088|898089|898090|898091|898092|898093|898094|898095|898096|898097|898098|898099|898100|898101|898102|898103|898104|898105|898106|898107|900361|900362|900363|900364|966707|966708", + "text": "Polydactyly" + }, + { + "baseId": "16434|16435|16436|16437|39761|39762|39763|101803|101804|177411|187123|191269|194996|194997|195392|270912|271103|273548|321680|321683|321684|321685|321689|321692|330943|330945|330948|337642|337643|337647|337650|337655|337659|337663|337680|337685|339718|339720|339721|339725|339729|339734|409162|409163|482057|489407|528852|551577|703007|714258|725846|778113|820659|841879|841880|841881|841882|841883|841884|841885|841886|841887|841888|841889|841890|841891|841892|841893|872852|872853|872854|872855|872856|872857|872858|872859|872860|872861|872862|872863|872864|872865|876462|920338|927192|936759|936760|940317|948713|948714|948715|948716|948717|957330|957331|957332|966101|966102|966103|966106|966107|966108|966145", + "text": "Leber congenital amaurosis 3" + }, + { + "baseId": "16434|39763|620496", + "text": "SPATA7-Related Disorders" + }, + { + "baseId": "16438|16439|16440|16441|16442|16443|16444|16445|16446|16447|16448|16449|39759|237221|257668|257669|257670|257671|257672|257673|257674|257675|257676|257677|257678|338084|338088|338089|338093|338098|338099|338101|338109|347720|347723|347724|347726|347735|347736|351565|351568|351569|351572|351573|351576|351577|351581|351582|351584|352528|352529|352530|352531|352532|352533|352534|352535|352536|352537|352538|352539|352540|352541|352542|353608|514211|608921|615947|620689|620690|717433|778648|891241|891242|891243|891244|891245|891246|891247|891248|891249|891250|891251|891252|891253|891254|891255|891256|891257|891258|891259|891260|891261|891262|891263|891264|891265|891266|891267|891268|891269|891270|891271|891272|891273|891274|891275|891276|891277|891278|891279|891280|891281|891831|891832|905733|905735", + "text": "Microcytic anemia" + }, + { + "baseId": "16450|289538|289543|289546|289548|289553|289560|290312|290314|290316|290318|290319|290323|290325|290326|290327|293394|293395|293397|293398|293400|293409|293410|293860|293861|293862|293864|293866|620761|697935|708688|888416|888417|888418|888419|888420|888421|888422|888423|888424|888425|888426|888427|888428|888429|888430|888431|891620|891621", + "text": "Globozoospermia" + }, + { + "baseId": "16451|16452|16453|16454|16455|16456|16457|16458|259752|289305|289313|289316|289317|289325|289326|289334|289336|289341|289348|289355|289359|289363|289367|289368|289369|289374|289381|289383|289384|289396|289399|289400|289410|289413|289414|289416|290096|290105|290113|290117|290125|290130|290131|290144|290152|290154|290158|290167|290169|290170|290171|290172|290175|290181|290195|293187|293188|293189|293196|293209|293210|293228|293241|293245|293246|293248|293249|293250|293251|293260|293264|293267|293278|293656|293657|293659|293662|293663|293664|293668|293669|293670|293672|293673|293681|293682|293683|293693|293695|293696|293699|293706|293709|363835|406140|439201|496339|620116|620117|720286|790356|888294|888295|888296|888297|888298|888299|888300|888301|888302|888303|888304|888305|888306|888307|888308|888309|888310|888311|888312|888313|888314|888315|888316|888317|888318|888319|888320|888321|888322|888323|888324|888325|888326|888327|888328|888329|888330|888331|888332|888333|888334|888335|888336|888337|888338|888339|891602|891603|891604|891605|891606|891607|891608|891609|891610|891611|891612|891613|891614|973018", + "text": "Sucrase-isomaltase deficiency" + }, + { + "baseId": "16459", + "text": "Skin/hair/eye pigmentation, variation in, 6" + }, + { + "baseId": "16460|16461|16462|16463|16464|39757|77870|101600|101601|101602|101603|101604|141941|141942|170961|170962|170963|194467|199944|199945|199946|199947|199948|199949|199950|199951|199952|199953|199954|199956|204443|265244|272481|280700|280701|281166|282449|282450|282737|282747|282748|282752|365277|365337|365372|404748|404749|432280|433696|433698|448353|448355|481595|486859|486903|492708|498713|515996|516019|541098|541100|541102|541103|541114|541116|541119|541122|541132|541135|541138|541141|541146|541161|541167|541169|541170|541172|541175|541176|541185|541206|541208|541212|541216|541219|541222|541225|541228|541232|541234|541236|541237|541240|541241|541242|541244|541245|541246|541247|541252|541253|541256|541259|541261|541263|541265|541267|541269|541276|541278|541281|557089|557314|557316|557367|622036|628114|690627|690628|690629|690630|696774|696775|696776|746529|746530|761986|761989|761990|780716|780717|780720|801593|801594|801595|801596|801597|801598|801599|805136|818977|818978|818979|824199|824200|824201|824202|850777|851313|905868|922107|922108|922109|930582|942016|942017|952456|961750|964801|966757|980905", + "text": "Cobalamin C disease" + }, + { + "baseId": 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+ "text": "Disorders of Intracellular Cobalamin Metabolism" + }, + { + "baseId": "16460|486708|486709|486714|486715", + "text": "METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC" + }, + { + "baseId": "16460|16462|16463|16464|39757|101600|101601|101602|101603|101604|194467|199944|199945|199946|199947|199948|199951|199952|199953|265244|280700|282450|282737|282748|282752|365277|365372|448353|481595|486903|498500|541098|541135|541138|541228|541244|541246|541281|557367|690627|690630|696775|746529|761986|761989|761990|780717|780720|801598|864510", + "text": "Methylmalonic aciduria with homocystinuria cblC type" + }, + { + "baseId": "16462|16464|16916|16917|16919|16920|16921|16923|16925|16926|16927|98587|98588|98589|98590|98591|98592|98594|98595|106562|106572|177367|193400|200109|200110|200111|200112|200114|200115|200116|200117|200121|200122|200123|200124|200126|216037|216038|216039|216040|216041|216042|216043|216044|216045|216046|216047|216048|216049|216050|216051|216052|216053|216054|224618|224619|224620|224621|224622|224623|224624|224625|224626|224627|224628|224629|224630|224631|224632|224633|224634|224635|224636|224637|224638|224639|224640|224641|224642|224643|224644|224645|224646|224647|224648|224649|224650|224651|224652|224653|224654|224655|224656|224657|224658|227101|227102|236987|268472|272964|274267|274558|300512|300513|300522|300524|303372|303374|303377|303378|303384|303385|303387|303389|303391|307916|307925|307927|307928|307940|307942|307943|307952|307953|308058|308066|308067|308073|308080|308083|361113|361114|368676|370483|406880|406882|406883|415053|415056|438323|439145|443970|455818|455819|456214|481422|481423|487143|487201|490207|502013|512823|513283|513284|513569|521632|521676|522000|522002|522062|543667|543675|543688|543689|543691|543694|543707|543717|543721|543729|543738|543968|543976|543985|543991|543994|543997|543999|544001|544007|544008|544012|544014|544016|544017|544018|544019|544021|544023|544024|544025|544026|544041|544043|544047|544049|544052|544057|544058|544064|544065|544066|544068|544125|544133|544134|544137|544140|544141|544144|544145|544153|544154|560734|560736|560738|563617|565693|565694|581755|581756|581776|582291|620792|634938|634939|634940|634941|634942|634943|634944|634945|634946|634947|651553|651561|679751|699613|722064|722065|735698|744217|765711|765712|765714|765715|765716|765719|790636|790637|790638|798576|818250|819693|831990|831991|831992|831993|831994|831995|831996|831997|852278|896561|896562|896563|896564|896565|896566|896567|896568|896569|896570|896571|896572|896573|896574|896575|896576|896577|896578|896579|896580|896581|896582|896583|896584|903545|924365|924366|933345|933346|933347|933348|940845|945046|945047|945048|945049|954473|954474|954475|954477|954478|954479|954480|961775|961776|961787|966758|966759|966760|966761|966762|966763|966764|966765|966766|966767|966768|966769|966770|966771|966772|966773|970218|970219|971953|971954|971955|971956|971957|971958|971959|971960|971961|971962|971963|971964|971965|971966|971967|980329|980923", + "text": "Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency" + }, + { + "baseId": "16462", + "text": "cblC type of combined methylmalonic aciduria and homocystinuria" + }, + { + "baseId": "16465|16466|16467|16468|16469|16470|16471|16472|16473|16474|191441|191442|195771|265451|269096|384486|432302|437700|437701|437702|437703|437704|438959|513078|513079|790875|818267|818268|818269|818270|818271|818272|835948|919211", + "text": "Autosomal recessive hypophosphatemic bone disease" + }, + { + "baseId": "16468|438959", + "text": "Hypophosphatemic rickets with hypercalciuria" + }, + { + "baseId": "16475|16477|16478|16479|134277|134278|134279|140681|211104|362100|513055|581745|581746|581747|581753|581762|798548|802153|818234|918198", + "text": "Coenzyme Q10 deficiency, primary 1" + }, + { + "baseId": "16475|16477|16478|16479|75117|75119|142389|211447|295996|298511|299717|305208|305215|305397|321198|321757|335546|342017|343530|362100|362101|362102|620176", + "text": "Coenzyme Q10 deficiency, primary" + }, + { + "baseId": "16480|16483|16520|16521|16523", + "text": "Porphyria, acute intermittent, nonerythroid variant" + }, + { + "baseId": "16481|16482|16484|16485|16486|16487|16488|16489|16490|16491|16492|16493|16494|16495|16496|16497|16498|16499|16500|16501|16502|16503|16504|16505|16506|16507|16508|16509|16510|16511|16512|16513|16514|16515|16516|16517|16518|16519|16522|16524|16525|99631|171128|171129|171130|171131|171132|177396|254014|254015|254016|312560|312568|318548|324646|324649|324652|324664|324667|324668|324675|324687|325412|325413|325419|325424|325425|325428|325432|325433|325434|353169|359912|360926|361868|444737|444738|444739|503169|513190|540142|609296|639780|639782|677433|682125|724240|867120|867121|867122|867123|867124|867125|867126|867127|867128|904069|919323|920294|935409", + "text": "Acute intermittent porphyria" + }, + { + "baseId": "16526|75132|615964", + "text": "Skin/hair/eye pigmentation, variation in, 4" + }, + { + "baseId": "16527|191732|195791|195791|222561|242616|242617|256108|256109|327902|327906|327910|327911|327915|327919|327921|337719|337723|337725|337729|337736|337738|337743|343939|343941|343945|343950|343953|343957|343958|345397|345400|345402|345410|345413|345417|402077|467207|467210|467385|483114|530653|530655|530659|530813|530910|530912|570830|570914|584316|610470|620577|620578|620579|645429|645430|645431|684666|688752|688754|688755|844837|844838|844839|851697|877092|877093|877094|877095|877096|877097|877098|877099|877100|877101|877102|877103|877104|877105|877106|877107|877108|877109|877110|877111|877112|877113|877114|877115|877116|880491|880492|928091|928092|937759|958017|958018|958019|958020", + "text": "Nephronophthisis 9" + }, + { + "baseId": "16528|424690|858306|858792|918181", + "text": "Hermansky-Pudlak syndrome 8" + }, + { + "baseId": "16529|16530|16531|16532|16533|16534|16535|16536|165838|176306|176411|176412|176426|195608|227416|231209|231217|270035|270996|271877|275023|389254|389255|443697|486666|508414|513668|538499|553273|614609|614610|615831|615832|615833|615834|626285|758085|800188|800189|816496|919952", + "text": "Deafness, autosomal recessive 28" + }, + { + "baseId": "16537|16538|16539|16540|16541|16542|16543|205187|213647|237439|256457|256458|256459|256460|330042|330047|330049|330052|330060|330062|330066|330067|330073|330079|330080|330081|330085|330087|330091|330093|330102|330104|330105|330106|330119|330121|330129|330134|330135|330138|330144|340265|340268|340271|340273|340275|340277|340278|340283|340285|340290|340293|340295|340301|340302|340304|340309|340317|340318|340320|340325|340326|340330|340331|340334|340335|340343|346021|346029|346030|346036|346038|346040|346041|346042|346043|346044|346046|346047|346050|346054|346055|346060|346061|346062|346064|346065|346071|346072|346074|346075|346077|346078|346079|346080|347330|347331|347336|347338|347341|347342|347345|347349|347350|347357|347358|347360|347362|347364|347365|347369|347371|347372|347373|347376|347378|347380|347381|347384|438965|538470|568672|569757|571606|646722|715717|715718|715719|715720|727451|727452|727453|741047|741048|741050|741051|756144|756145|756147|756148|756149|771849|771850|771851|771852|776400|776401|785750|785752|788184|792810|821157|821158|846244|846245|846246|852793|878530|878531|878532|878533|878534|878535|878536|878537|878538|878539|878540|878541|878542|878543|878544|878545|878546|878547|878548|878549|878550|878551|878552|878553|878554|878555|878556|878557|878558|878559|878560|878561|878562|878563|878564|878565|878566|878567|878568|878569|878570|878571|878572|878573|878574|878575|878576|878577|878578|878579|878580|878581|878582|878583|878584|878585|878586|878587|878588|880599|880600|880601|880602|940439|962053|965605|965656|979923|979924|979925", + "text": "Peroxisomal acyl-CoA oxidase deficiency" + }, + { + "baseId": "16544|16545|16546|16548|16549|16550|16552|16552|16553|16554|16555|16556|16557|227202|237092|237092|249415|249416|263974|263974|276575|276576|276577|276589|276590|276835|276838|276844|276845|276846|276864|276865|276866|276870|276872|277385|277387|277390|277393|277397|277406|277412|277425|277493|277496|277500|277507|277515|277531|277533|277534|277535|277536|442635|513235|578365|614553|619954|619955|619956|696141|789854|804879|862398|862399|862400|862401|862402|862403|862404|862405|862406|862407|862408|862409|862410|862411|862412|862413|862414|862415|862416|862417|862418|864989|864990|864991|864992|864993|864994|970662", + "text": "Pyruvate kinase deficiency of red cells" + }, + { + "baseId": "16551|16552|16552|237092|263974|442635", + "text": "Adenosine triphosphate, elevated, of erythrocytes" + }, + { + "baseId": "16558|16559|16560|16561|16561|16562|16563|16564|16565|16566|16567|16568|16569|16570|16571|16572|16573|16574|16575|16576|16577|16578|16579|16580|16581|16582|16583|16584|16585|16586|16587|16589|16590|16591|16592|16593|16595|16596|16597|48634|167953|167957|228248|228249|304769|304770|304771|304779|304781|304784|304786|308436|308437|308438|308439|308441|308445|308447|308451|308459|308469|308479|308485|308491|308493|308496|308498|308517|308525|313559|313561|313563|313575|313598|313599|313600|313602|313603|313605|313609|313610|313618|313650|313651|313655|313656|313657|313660|313664|313668|313670|313671|313672|313676|313677|313690|313699|313703|313721|313722|313723|487330|487375|487383|513294|514566|620297|722988|722989|736574|751056|751057|751059|766711|766712|766713|766714|766722|783066|783071|899228|899229|899230|899231|899232|899233|899234|899235|899236|899237|899238|899239|899240|899241|899242|899243|899244|899245|899246|899247|899248|899249|899250|899251|899252|899253|899254|899255|899256|899257|899258|899259|899260|899261|899262|899263|900464|961855|961856|966454|967100|978461|978462|978463|978464", + "text": "Hyperlipoproteinemia, type I" + }, + { + "baseId": "16561|16561|16566|16568|16569|16579|16589|411513|511752|970879", + "text": "Hyperlipidemia, familial combined, LPL related" + }, + { + "baseId": "16573", + "text": "LIPOPROTEIN LIPASE POLYMORPHISM" + }, + { + "baseId": "16577", + "text": "Lpl-arita" + }, + { + "baseId": "16588|16589|16591|16594|27333|27334", + "text": "Hyperlipidemia, familial combined, susceptibility to" + }, + { + "baseId": "16591|32943|143193|143194|143195", + "text": "Coronary heart disease" + }, + { + "baseId": "16595", + "text": "LIPOPROTEIN LIPASE (OLBIA)" + }, + { + "baseId": "16598|48634", + "text": "High density lipoprotein cholesterol level quantitative trait locus 11" + }, + { + "baseId": "16599|16599|16600|16600|16601|16601|16602|16602|16603|16603|16604|16604|16605|16605|16606|16606|16607|16608|16609|16610|16610|16611|16611|39752|39752|98599|98600|98601|98602|98604|98604|152905|152906|152906|177157|177853|237435|237435|260811|260812|265243|265243|272255|272277|272277|274557|274557|274815|274815|328519|328519|328521|328521|328522|328522|328524|328524|338465|338468|338469|338469|338479|338479|344551|344551|345949|345951|345951|345952|345954|345958|345958|358436|358436|358437|431000|468077|468077|487839|487839|488906|512959|512959|513465|513465|513466|531265|539071|539071|548134|548138|548140|548143|548145|548147|548149|548151|548152|548153|548154|548155|548156|548157|548160|548160|548161|548163|548165|548168|548170|548171|548175|548176|548177|548185|548187|548392|548399|548411|548416|548417|548417|548421|548425|548425|548427|548432|548441|548443|548445|548453|548453|548454|548454|548463|548470|548470|548473|548477|548478|548480|548483|548488|548496|548497|548497|548507|548845|548850|548852|548854|548856|548866|548868|548886|548888|548895|548897|548899|548901|548902|548904|548904|548910|548916|548916|548921|548925|548926|548930|548939|548939|548941|569051|569053|569053|574461|574462|578545|581774|612319|620588|620589|620589|623161|623162|625884|625885|645901|645902|645903|645904|645905|704146|704146|715460|715460|715461|715461|715462|715462|727184|727184|727185|727185|727186|727186|731150|731150|740757|740757|740758|740758|740759|740759|744975|755854|755854|755855|755856|771507|771508|771509|771509|771510|771511|771513|771516|771517|771518|771519|771520|771520|785566|785569|785572|785573|785574|791745|791746|791747|845342|845343|845344|845345|845346|845347|852743|877553|877554|877555|877556|877557|877558|877559|877560|877561|877562|877563|877564|937932|937933|937934|937935|949921|949922|958107|958108|958109|958110|958111|958112|962245|972273|972274|972275|979899|979900|979901|979902", + "text": "Mucopolysaccharidosis, MPS-III-B" + }, + { + "baseId": "16599|16600|16601|16602|16603|16604|16605|16606|16610|16611|39752|98604|152906|177157|200975|237435|265243|272277|274557|274815|328519|328521|328522|328524|338469|338479|344551|345951|345958|358436|468077|487839|488906|512959|513465|531265|539071|539071|548160|548417|548425|548453|548454|548470|548497|548904|548916|548939|569051|569053|574461|574462|620589|645901|645902|645903|645904|645905|704146|715460|715461|715462|727184|727185|727186|731150|740757|740758|740759|744975|755854|755855|755856|771507|771508|771509|771510|771511|771513|771516|771517|771518|771519|771520|785566|785569|785572|785573|845342|845343|845344|845345|845346|845347|852743|937932|937933|937934|937935|949921|949922|958107|958108|958109|958110|958111|958112", + "text": "Charcot-Marie-Tooth disease, axonal type 2V" + }, + { + "baseId": "16603|17577|18513|18536|18820|19260|20874|23435|23993|24680|26862|28958|30966|31490|31500|32040|32041|32044|32046|32048|32055|32062|32068|32660|39003|39501|44706|44738|44739|44742|44746|44771|44794|46362|46375|46446|46492|46568|46632|46720|46743|46771|46785|48043|51454|51459|51525|51526|51540|51604|53896|53902|53907|53916|53930|53931|53932|57587|57643|65709|65786|65914|66202|66329|66607|66687|66817|66833|66884|66924|67002|67098|67130|67183|67447|67476|67494|67533|71284|78529|78674|78697|78817|78895|78901|78903|78910|78945|96907|98319|102667|102683|102731|102743|102758|103449|131517|131583|151171|151719|170101|173777|173934|175763|175906|175979|175988|178699|180661|181441|183666|184005|186861|196831|196929|197650|197688|197723|197743|197755|224272|226499|231864|233846|234768|234820|234954|235048|242076|243997|244001|258823|260039|260073|263184|263220|263253|263261|263267|263286|263292|263318|263319|263384|263401|263863|264055|264422|264749|287152|340675|342667|358436|359267|360800|360951|360968|361006|361055|361065|361065|361100|361105|362139|373504|403333|404845|404846|409256|414704|422039|433558|435058|461285|463766|464306|465146|487849|487854|493078|510615|511075|513888|513892|513973|514014|514030|514038|514051|514066|514067|514068|514089|514120|514141|514152|514153|514167|514204|514206|514219|529011|539719|539842|547329|559457|590037|590091|614396|614397|614398|614399|614400|615920|672319|672321|801262|816327|816328|858541|975888|980477", + "text": "8 conditions" + }, + { + "baseId": "16612|16613|16614|16615|16615|16616|236948|316202|316206|316206|323517|323518|323518|323528|323533|323536|323537|323538|329699|329699|329701|329701|329707|330953|330956|462460|503564|526618|526707|526710|526876|526949|526956|526956|527273|527273|565093|565098|566391|640665|640666|640667|713390|730843|738506|753167|820447|839370|839371|839372|839373|839374|839375|869414|869415|869416|869417|869418|869419|869420|869421|869422|869423|872195|872196|935934|935935|935936|947807|947808|956763|956764", + "text": "Tyrosinemia type 3" + }, + { + "baseId": "16615|16615|16616|16616|236948|316202|316206|316206|316211|323517|323518|323518|323528|323533|323536|323537|323538|329699|329699|329701|329701|329707|330953|330956|353210|353211|462460|503564|526618|526707|526710|526876|526949|526956|526956|527273|565093|565098|566391|640665|640666|640667|713390|730843|738506|753167|791201|820447|839370|839371|839372|839373|839374|839375|869414|869415|869416|869417|869418|869419|869420|869421|869422|869423|872195|872196|935934|935935|935936|947807|947808|956763|956764|967245", + "text": "Hawkinsinuria" + }, + { + "baseId": "16617|16618|29951|320043|320044|320049|320055|320057|320066|320068|320072|320082|320083|320085|320086|328595|328598|328599|328607|328608|328612|328614|328616|328617|328623|328625|328627|328631|328632|335072|335077|335078|335084|335085|335086|335087|335096|335100|335102|335104|335118|335123|335134|335148|335153|335156|335164|335166|335188|337042|337045|337047|337050|337055|337061|337062|337064|337075|337076|683201|713979|725525|753898|871526|871527|871528|871529|871530|871531|871532|871533|871534|871536|871537|871538|871539|871540|871541|871542|871543|871544|871545|871546|871547|871548|871549|871550|871551|871552|871553|871555|871556|871557|871559|871560|871561|871562|871563|871564|871565|871566|871567|871568|871569", + "text": "Tourette syndrome" + }, + { + "baseId": "16617", + "text": "Trichotillomania" + }, + { + "baseId": "16619|16620|16621|16622", + "text": "Glaucoma 1, open angle, G" + }, + { + "baseId": "16621|21837|21837|21838|21839|21840|21841|21842|21843|21844|55409|55411|55413|55414|55416|55417|55418|55420|55422|55423|55424|55425|55426|55427|55429|55432|55433|55434|55435|55436|55438|55439|55444|55445|55447|55448|55449|55450|55451|55453|55455|55456|55458|55459|55462|55463|55464|55465|55466|55468|55469|55470|55471|55472|55473|55475|55476|55477|55478|55479|55480|55481|55482|55483|55483|55484|55485|55486|55487|55489|55490|55491|55492|55494|55495|55496|55498|55499|55500|55502|55503|55504|55505|55506|55507|55508|55509|55510|55511|55513|55515|55516|55517|55519|55521|55523|55524|55525|55526|55528|55529|55530|55531|55532|55533|55538|55539|55541|55542|55544|55545|55546|55547|55548|55548|55551|55552|55554|55555|55558|55560|55561|55565|55567|55568|55569|55571|55572|55573|55574|106479|115776|141201|141203|141204|152876|152877|152878|168544|168545|168546|168548|168550|168552|168556|174292|174294|174295|174296|174297|174300|174301|174305|174306|174306|174309|174313|174314|174316|174320|174321|174327|174331|174433|174434|174436|174442|174443|174447|174448|174452|174453|174454|174455|174455|174456|174460|174462|174468|174469|174475|177755|190912|192696|192785|193724|194148|194654|195169|195465|195465|195538|195622|195827|196072|226526|226538|229327|229338|229344|229347|229349|229349|229351|229357|229359|229361|229367|229369|229375|246883|260785|267208|267429|267749|268781|268828|269624|269624|272062|273234|275060|275062|362174|363866|363866|389222|389223|389493|404769|415013|425651|433350|443833|488627|488666|490842|491555|495293|495297|496394|496397|496400|496403|496403|496405|496409|496410|496445|496449|496828|496833|496846|501459|513560|535680|537464|537464|551542|585004|587192|587555|588227|588228|589213|590278|590279|590280|609606|612130|615791|615792|615793|615794|615795|615836|620201|623286|654397|654400|654409|654412|655685|655687|655693|699211|721585|735263|735265|735271|744171|749659|749677|765375|765380|782385|782392|788786|790566|790567|790568|790569|793098|793104|793106|800354|800355|800369|800370|815983|818240|831261|831266|831272|831283|831300|831303|831309|831315|831318|831347|856394|856395|856410|894854|894855|894856|894857|894858|894859|894860|894861|894862|894863|894864|894865|894866|894867|894868|894869|894870|894871|894872|894873|894874|894875|894876|894877|894878|894879|894880|894881|894882|894883|894884|894885|894886|894887|894888|894889|894890|894891|894892|894893|894894|894895|894896|894897|894898|894899|894900|894901|894902|894903|894904|894905|894906|894907|894908|894909|894910|894911|894912|894913|894914|894915|894916|894917|894918|894919|894920|894921|894922|894923|894924|894925|894926|894927|894928|894929|894930|894931|894932|894933|894934|894935|894936|894937|894938|894939|894940|894941|894942|894943|894944|894945|894946|894947|894948|894949|894950|894951|894952|894953|894954|894955|894956|894957|894958|894959|894960|894961|894962|894963|894964|894965|894966|894967|894968|894969|894970|894971|894972|894973|894974|894975|894976|894977|894978|894979|894980|894981|894982|894983|894984|894985|894986|894987|894988|894989|894990|894991|894992|894993|894994|894995|896145|896146|896147|896148|896149|896150|896151|896152|896153|896154|896155|896156|896157|896158|896159|896160|896161|963140", + "text": "Usher syndrome, type 2C" + }, + { + "baseId": "16623|16624|16625|16626|16627|16628|16629|16630|16631|16632|49833|49834|103605|103606|103607|103608|103609|103610|103611|103612|103613|103614|103615|103616|103617|103618|103619|103620|103621|103622|103623|103624|103626|103627|103628|103629|103630|103631|103632|103633|103634|103635|103636|103637|103638|103639|103640|103641|103642|103643|103644|103645|103646|103647|103648|103650|103651|103652|103653|103654|103655|103656|103657|103658|103659|103660|103661|103662|103663|103664|103665|103666|103667|103668|103669|103670|103671|103672|103673|103674|103675|103676|103677|103678|103679|103680|103681|103682|103683|103684|103685|103686|103687|103688|103689|103691|103692|103693|103694|103695|103696|103697|103698|103699|103700|103786|103787|103788|103789|103790|103791|103792|103793|132717|132720|132721|271343|271712|272489|274560|274744|334310|334316|334321|334322|334335|334337|334350|334352|334357|334358|334361|334365|334375|334379|334383|334384|344240|344241|344251|344252|344253|344254|344261|344263|344268|349374|349377|349378|349381|349382|349385|349386|349389|349390|349392|350394|350395|350398|620914|800949|818722|822325|882494|882495|882496|882497|882498|882499|882500|882501|882502|882503|882504|882505|882506|882507|882508|882509|882510|882511|882512|882513|882514|882515|882516|882517|882518|882519|882520|882521|882522|882523|882524|882525|882526|882527|882528|882529|882530|882531|882532|882533|882534|882535|882536|882537|882538|882539|882540|882935", + "text": "Hydatidiform mole, recurrent, 1" + }, + { + "baseId": "16633|16634|142160|406756|488088|488090", + "text": "Mitochondrial complex 1 deficiency, nuclear type 10" + }, + { + "baseId": 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7010|897011|897012|897013|897014|897015|897016|897017|897018|897019|897020|897021|897022|897023|897024|897025|897026|897027|918497|969137", + "text": "Mitochondrial complex I deficiency, nuclear type 1" + }, + { + "baseId": "16635|16636|103778|103781|103782|103783|103796|257201|257202|257203|257204|257205|257206|257207|334185|334186|334188|334189|334191|334193|334195|334198|334214|334216|334220|334221|334222|334223|334227|334230|344064|344067|344068|344070|344074|344075|344078|344080|344082|344094|344095|344106|344107|344113|344117|344123|344127|344141|349306|349309|349313|349314|349318|349321|349322|349325|349326|349328|349329|349332|349333|349336|349337|349340|350304|350309|350312|350313|350314|350315|350318|350321|350323|350324|350326|350328|350331|350333|350334|350335|390434|410711|434676|438122|446183|468174|469263|469271|470234|470766|470770|470779|471282|471283|471286|486231|486232|495545|513478|514301|514302|514304|532491|532829|533367|533376|533378|533385|533387|533404|533406|533408|533443|533444|533446|533448|533880|533881|533895|533900|533902|533911|533914|533918|533919|533923|533933|533935|533943|571070|571071|571072|571076|571077|571081|571087|572714|572788|572790|572794|572797|572800|573401|573405|573410|573412|575048|575049|575050|575051|575052|575053|575054|575055|590803|613150|619929|620646|648447|648448|648449|648450|648451|648452|648453|648454|648455|648456|648457|648458|648459|648460|648461|648462|648463|648464|648465|648466|648467|648468|648469|648470|648471|648472|648473|648474|648475|648476|648477|648478|648479|648480|648481|648482|648483|648484|648485|648486|648487|652954|652963|652965|653585|716670|728391|728392|728395|728396|742106|742108|742109|742110|757240|757245|772887|772888|772894|772896|772900|776907|800152|800153|800154|800155|800156|821287|821288|821289|821290|848042|848043|848044|848045|848046|848047|848048|848049|848050|848051|848052|848053|848054|848055|848056|848057|848058|848059|848060|848061|848062|848063|848064|848065|848066|848067|848068|848069|848070|848071|848072|848073|848074|848075|848076|848077|860603|882420|882421|882422|882423|882424|882425|882426|882427|882428|882429|882430|882431|882432|882433|882434|882435|882436|882437|882438|882439|882440|882441|882442|882443|882444|882445|929104|929105|929106|929107|929108|929109|929110|929111|929112|929113|938844|938845|938846|938847|938848|938849|938850|938851|941246|950912|950913|950914|950915|950916|950917|950918|950919|950920|958729|958730|958731|958732|958733|958734|958735|958736|958737|961370|975895|982197|982198|982199|982200|982201|982202", + "text": "Familial cold autoinflammatory syndrome 2" + }, + { + "baseId": "16637|16638|400211", + "text": "Fanconi anemia, complementation group M" + }, + { + "baseId": "16639|16640|16641|39751|404967|413892|413893|798457", + "text": "Ectodermal dysplasia-syndactyly syndrome 1" + }, + { + "baseId": "16642|16643", + "text": "Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal" + }, + { + "baseId": "16644", + "text": "Palmoplantar hyperkeratosis and true hermaphroditism" + }, + { + "baseId": "16645|226288|226289|904120|904121", + "text": "Sideroblastic anemia 3, pyridoxine-refractory" + }, + { + "baseId": "16646|16647|16648|16649|16650|16651|39750|169067|169069|196332|208099|208101|208103|376074|429562|429563|429566|429571|429573|550016|566489|566490|568081|568089|568936|572810|642483|714142|714143|725677|739217|769815|820624|841537|841538|841539|841540|861133|861139|919528|927092|957229|961416|961873", + "text": "L-2-hydroxyglutaric aciduria" + }, + { + "baseId": 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+ "text": "Three M syndrome 1" + }, + { + "baseId": "16655", + "text": "Yakut short stature syndrome" + }, + { + "baseId": 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+ "text": "Very long chain acyl-CoA dehydrogenase deficiency" + }, + { + "baseId": "16673|20938|23992|27992|187120|200340|208349|361026|512449|539122|539137|539161|792691|801182", + "text": "Rhabdomyolysis" + }, + { + "baseId": "16673|801182", + "text": "Abnormality of circulating enzyme level" + }, + { + "baseId": "16675|16676|16677|16678|16679|16680|16681|16682|16683|186955|186956|186957|186958|186959|186960|260160|260161|264755|267970|327649|327655|327659|327661|327665|327671|327676|327677|327678|327682|327683|327687|327702|337460|337461|337468|337470|337471|337473|337476|337480|343715|343717|343719|343721|343726|343728|343732|343733|343734|343738|345177|345178|345179|345180|345183|345185|345186|345201|345204|345207|358393|358394|358395|358396|358397|358398|358399|358400|358401|358402|358403|358404|358405|358406|358407|358408|358409|358410|431883|431884|431885|487670|487677|487679|513368|547979|547988|547995|548003|548007|548011|548016|548024|548026|548031|548033|548038|548039|548276|548282|548287|548288|548290|548291|548755|548758|548760|548761|548763|548764|548769|578538|610422|612318|620576|740643|740644|755701|771310|771311|771312|771315|785484|791687|792803|804830|876996|876997|876998|876999|877000|877001|877002|877003|877004|877005|877006|877007|877008|877009|877010|877011|877012|877013|877014|877015|877016|877017|877018|877019|877020|877021|880487|965860|972262|972263|972264|972265|972266|972267|972268|972269|979886", + "text": "Sj\u00f6gren-Larsson syndrome" + }, + { + "baseId": "16684|16685|16686|16687|16688|16689|16690|40310|40311|227322|305387|305388|305390|305391|305393|305399|305402|309195|309198|309216|309220|309232|309234|309242|314476|314484|314490|314497|314498|314510|314524|314525|314557|314564|314568|314585|353839|413775|421679|438390|438391|441237|457855|457864|458508|458514|458918|511756|523898|523907|524172|562420|562422|565135|565139|567930|637218|637219|651971|651978|679760|679957|687293|798600|798601|805577|834768|834769|834770|899632|899633|899634|899635|899636|899637|899638|899639|899640|899641|899642|899643|899644|919156|920255|925204|946075|955415|960653|964667", + "text": "Torsion dystonia 6" + }, + { + "baseId": "16691|16692|16693|16694|34357|34358|34359|34359|44141|103891|103892|103893|251291|251291|291683|291688|291692|291692|291700|291703|291704|293021|293023|293023|293025|293025|293028|293029|293042|293046|296287|296308|296310|296311|296342|296355|296355|296357|296364|296365|559682|691486|691486|695217|709053|720645|828574|859301|889721|889722|889723|889724|889725|889726|889727|889728|889729|889730|889731|889732|889733|889734|889735|889736|889737|891709|923359", + "text": "Frontotemporal dementia, chromosome 3-linked" + }, + { + "baseId": "16695|268646|431738|481856|513993|513994|551560|590286|609733|799591|919227", + "text": "Retinitis pigmentosa 31" + }, + { + "baseId": "16697|16708|17173|264701|318161|318162|318163|318167|326143|326148|326151|326165|332322|332326|332328|332329|332331|333912|333913|333932|333933|333936|372536|513614|620448|760040|791268|870232|870233|870234|870235|870236|870237|870238|870239|870240|870241|870242|870243|870244|870245|870246", + "text": "Vitamin D-dependent rickets, type 1" + }, + { + "baseId": "16697|16698|16699|16700|16701|16702|16703|16704|16705|16706|16707|16708|16709|16710|16711|16712|16713", + "text": "Vitamin D-dependent rickets type 1A" + }, + { + "baseId": "16714|16715|16716|16717|16718|16719|16720|16721|16722|101218|101219|291847|291851|291853|291854|291855|291862|291864|291868|291877|291879|293216|293217|293221|293222|293223|293238|293239|293240|293242|293257|293259|293266|293269|293275|296532|296533|296534|296536|296539|296540|296563|296575|296580|296587|296590|296592|296593|296594|439302|452826|453189|513265|519686|519688|519945|576109|581872|620769|621166|631846|631847|709098|709099|709100|709101|774868|779080|819435|828645|828646|851582|889818|889819|889820|889821|889822|889823|889824|889825|889826|889827|889828|889829|889830|889831|889832|889833|889834|891722|891723|891724|916921|932108|932109|963560|973009", + "text": "Beta-D-mannosidosis" + }, + { + "baseId": "16723|16724|16725|16726|16727|34059|34060|34061|34062|99114|99117|99121|99122|99124|99125|135030|187033|187034|192626|193442|194844|194845|204485|204486|204487|204488|204489|204490|204491|204492|204493|204494|204495|204496|204497|204498|204499|204500|204501|204502|204503|204504|204505|204506|204507|204508|204509|204510|204511|204512|204513|204514|204515|204516|204517|204518|204519|204520|215562|237252|237427|265389|270901|271823|274266|332610|332611|332618|332625|332627|332629|332630|332631|332636|332638|332640|332643|332646|332649|342815|342816|342819|342824|342825|342838|342841|348129|348130|348131|348138|348141|348144|348147|348148|348149|348152|349376|349379|349380|349383|349384|349387|349388|358566|358567|358568|358569|358570|358571|358572|358573|358574|358575|358576|358577|358578|358579|358580|358581|358582|358583|358584|358585|410474|426282|433679|446031|446032|469809|470446|512381|532700|532716|538483|548669|548672|548675|548678|548683|548684|548685|548687|548688|548689|548690|548691|548692|548694|548695|548697|548699|548700|549043|549044|549046|549050|549052|549064|549065|549067|549069|549322|549323|549324|549325|549326|549327|549328|549329|549330|549783|549785|549787|550635|572910|572918|578563|612329|620627|620628|621629|647696|647697|647698|647699|647700|647701|647702|652941|653146|653490|653597|653598|653896|716169|716170|716171|716172|716173|716174|716175|716176|716177|727902|727903|727904|727905|727906|727907|731244|731245|741578|741579|741580|741581|741582|741583|741584|745215|756710|756711|756712|756713|756714|756715|756716|760797|760801|772397|772398|772399|772400|772403|772405|772408|772409|772410|772411|772414|776557|776664|776667|776669|776843|776844|786054|786055|786056|786058|786061|788250|800621|801736|847279|847280|847281|847282|847283|847284|847285|847286|847287|847288|847289|847290|847291|847292|852853|879946|879947|879948|879949|879950|879951|879952|879953|879954|879955|879956|879957|879958|879959|879960|879961|879962|879963|879964|879965|879966|879967|879968|879969|880693|880694|880695|880696|880697|880698|928841|928842|928843|928844|928845|928846|928847|928848|928849|938576|938577|938578|940470|950670|950671|958533|958534|958535|958536|958537|961888|963304|963870|965867|972307|972308|972309|972310|972311|972312|972313|972314|972315|972316|972317|972318|972319|972320|972321|972322|972323|972324|972325|972326|979962|979963|979964|979965|979966|979967|979968|979969|979970", + "text": "Deficiency of alpha-mannosidase" + }, + { + "baseId": "16728|16729|16730|16731|227693|318709|318710|318717|318719|318720|318721|318723|318725|318728|318730|318731|318733|318736|318737|327036|327046|327068|327069|327072|327073|327074|327076|327078|327080|327081|327083|327087|327088|333121|333139|333140|333141|333142|333143|333159|333166|333171|333174|333176|333180|333182|333183|333185|333187|333188|333194|333196|333201|333202|334861|334870|334871|334874|334889|334890|334894|334903|334905|334906|334917|334923|334924|334931|334932|334936|353259|620461|620853|620854|702555|738904|779576|870562|870563|870564|870565|870566|870567|870568|870569|870570|870571|870572|870573|870574|870575|870576|870577|870578|870579|870580|870581|870582|870583|870584|870585|870586|870587|870588|870589|870590|870591|870592|870593|870594|870595|870596|870597|870598|870599|870600|872296", + "text": "Histidinemia" + }, + { + "baseId": "16732", + "text": "Hurthle cell carcinoma of thyroid" + }, + { + "baseId": "16733|16734|16735|16736|229480|299946|299948|299957|299961|299968|299969|299974|299979|299989|300015|300018|302621|302623|302631|302635|302636|302640|302641|302644|302645|302647|302662|302686|302693|302699|306993|306995|306997|307002|307006|307007|307020|307047|307049|307257|307265|307269|307284|307310|307320|362595|389224|553258|578448|735641|895878|895879|895880|895881|895882|895883|895884|895885|895886|895887|895888|895889|895890|895891|895892|895893|895894|895895|895896|895897|895898|895899|895900|895901|895902|895903", + "text": "Deafness, autosomal recessive 67" + }, + { + "baseId": "16737|16738|51092|224980|224981|227233|284270|284273|284274|284282|284283|284288|284302|284314|284315|284319|284323|284324|284327|284328|284329|284331|284336|284338|284342|284345|284346|284352|284354|284359|284360|284364|284366|284367|284369|284996|285003|285005|285011|285012|285013|285014|285016|285020|285022|285023|285024|285026|285028|285032|285036|285038|285039|285040|285042|285043|285046|285047|285048|285050|286979|286984|286994|287000|287005|287006|287007|287009|287010|287015|287022|287023|287025|287029|287030|287032|287040|287041|287053|287055|287075|287080|287083|287084|287101|287110|287119|287349|287351|287352|287363|287364|287365|287369|287373|287376|287392|287396|287398|287399|287461|287466|287467|287468|287469|287475|287476|287480|287490|287492|353555|353556|620051|697274|883543|883544|883545|883546|883547|883548|883549|883550|883551|883552|883553|883554|883555|883556|883557|883558|883559|883560|883561|883562|883563|883564|883565|883566|883567|883568|883569|883570|883571|883572|883573|883574|883575|883576|883577|883578|883579|883580|883581|883582|883583|883584|883585|883586|883587|883588|883589|883590|883591|883592|887247|887248|887249|887250|887251|887252|887253|887254|887255|887256", + "text": "Fleck corneal dystrophy" + }, + { + "baseId": "16739|16740|16742|16742|16743|16744|16746|16747|16749|40257|40257|88864|152904|187986|187987|187988|187988|187989|187990|187991|187991|187992|187992|187993|187993|187994|187996|187997|187997|187999|188000|188000|188001|188002|188004|188004|188005|188006|188008|188009|188010|188011|188012|188013|188042|190720|191315|191858|191859|207742|207742|207743|209352|227716|253771|267792|273204|310393|310398|310409|310411|310413|310417|310422|310422|310424|310428|310434|310435|310437|310439|310447|310447|310450|310452|310452|310456|310457|310458|310460|315486|315487|315492|315497|315512|315513|315528|315536|315545|315546|315551|315552|315553|315553|315554|315556|315570|315571|315576|315577|315579|315580|315583|315583|315584|321486|321490|321494|321495|321506|321507|321508|321509|321511|321522|321540|321541|321541|321548|321557|321558|321563|321566|321568|321569|321576|321577|321580|321580|321586|321589|322296|322297|322298|322299|322303|322306|322307|322307|322308|322309|322317|322318|322323|322324|322326|322330|322340|322344|429066|429067|439215|444606|491919|493589|513306|545050|545054|545059|545062|545064|545066|545076|545081|545082|545084|545092|545094|545387|545389|545392|545394|545400|545403|545412|545422|545422|545427|545429|545431|545432|545433|545434|545435|545437|545446|545449|545452|545454|545459|545472|545474|545475|545477|545669|545670|545685|545688|545689|545690|545695|545698|545700|545702|545703|545704|545706|545708|545710|545723|578484|586213|589799|679828|744510|818719|836913|857676|865905|865906|865907|865908|865909|865910|865911|865912|865913|865914|865915|865916|865917|865918|865919|865920|865921|865922|865923|865924|865925|865926|865927|865928|865929|865930|865931|865932|865933|865934|865935|865936|865937|865938|865939|865941|865942|865943|865944|865945|865946|865947|865948|865949|865950|865951|865952|865953|865954|868473|868474|868475|868476|868477|963154|972077|972078|972079|972080|972081|972082|972083|972084|972085|972086|972087|972088|972089|972090|972091|972092|972093|972094|972095|972096|972097|972098", + "text": "Cockayne syndrome B" + }, + { + "baseId": "16740|16742|16746|16750|40257|88864|187986|187988|187991|187992|187993|187995|187996|187997|187999|188000|188004|188006|188009|207742|209352|227716|267792|310413|310422|310447|310452|315528|315553|315583|321541|321580|322307|322309|421792|491919|493589|545050|545054|545059|545062|545064|545066|545076|545081|545082|545084|545092|545094|545387|545389|545392|545394|545400|545403|545412|545422|545427|545429|545431|545432|545433|545434|545435|545437|545446|545449|545452|545454|545459|545472|545474|545475|545477|545669|545670|545685|545688|545689|545690|545695|545698|545700|545702|545703|545704|545706|545708|545710|545723|790960|790961|790962|818719", + "text": "DE SANCTIS-CACCHIONE SYNDROME" + }, + { + "baseId": "16740|16750|187999|322325|620362|620363|620364|626197", + "text": "ERCC6-Related Disorders" + }, + { + "baseId": "16740|16742|16745|16746|16750|16751|16752|40257|40257|88864|137838|187986|187988|187991|187992|187993|187994|187997|188000|188004|188006|188008|188012|188013|190720|191315|191858|191859|207742|227716|253771|267792|273204|310393|310398|310409|310411|310413|310417|310422|310422|310424|310428|310434|310435|310437|310439|310447|310447|310450|310452|310452|310456|310457|310458|310460|315486|315487|315492|315497|315512|315513|315528|315536|315545|315546|315551|315552|315553|315553|315554|315556|315570|315571|315576|315577|315579|315580|315583|315583|315584|321486|321490|321494|321495|321506|321507|321508|321509|321511|321522|321540|321541|321541|321548|321557|321558|321563|321566|321568|321569|321576|321577|321580|321580|321586|321589|322296|322297|322298|322299|322303|322306|322307|322307|322308|322309|322317|322318|322323|322324|322326|322330|322340|322344|360919|439215|444606|491919|493589|513593|545050|545054|545059|545062|545064|545066|545076|545081|545082|545084|545092|545094|545387|545389|545392|545394|545400|545403|545412|545422|545427|545429|545431|545432|545433|545434|545435|545437|545446|545449|545452|545454|545459|545472|545474|545475|545477|545669|545670|545685|545688|545689|545690|545695|545698|545700|545702|545703|545704|545706|545708|545710|545723|578484|586213|744510|818719|865905|865906|865907|865908|865909|865910|865911|865912|865913|865914|865915|865916|865917|865918|865919|865920|865921|865922|865923|865924|865925|865926|865927|865928|865929|865930|865931|865932|865933|865934|865935|865936|865937|865938|865939|865940|865941|865942|865943|865944|865945|865946|865947|865948|865949|865950|865951|865952|865953|865954|868473|868474|868475|868476|868477|919271|919272", + "text": "Cerebrooculofacioskeletal syndrome 1" + }, + { + "baseId": "16746|16748|187994|188008|188012|188013|190720|191315|191858|191859|253771|273204|310393|310398|310409|310411|310417|310422|310424|310428|310434|310435|310437|310439|310447|310450|310452|310456|310457|310458|310460|315486|315487|315492|315497|315512|315513|315528|315536|315545|315546|315551|315552|315553|315554|315556|315570|315571|315576|315577|315579|315580|315583|315584|321486|321490|321494|321495|321506|321507|321508|321509|321511|321522|321540|321541|321548|321557|321558|321563|321566|321568|321569|321576|321577|321580|321586|321589|322296|322297|322298|322299|322303|322306|322307|322308|322317|322318|322323|322324|322326|322330|322340|322344|439215|444606|586213|744510|865905|865906|865907|865908|865909|865910|865911|865912|865913|865914|865915|865916|865917|865918|865919|865920|865921|865922|865923|865924|865925|865926|865927|865928|865929|865930|865931|865932|865933|865934|865935|865936|865937|865938|865939|865941|865942|865943|865944|865945|865946|865947|865948|865949|865950|865951|865952|865953|865954|868473|868474|868475|868476|868477", + "text": "Age-related macular degeneration 5" + }, + { + "baseId": "16747", + "text": "UV-sensitive syndrome 1" + }, + { + "baseId": "16748|31535|31556", + "text": "LUNG CANCER, SUSCEPTIBILITY TO" + }, + { + "baseId": "16753|16754|16755|16756|16757|79645|187981|187982|187983|190958|196149|272557|297902|297911|297917|297919|297922|297923|297927|297930|297931|297932|300093|300097|300098|300099|300100|304328|304331|304354|304356|304360|304368|304691|304692|357419|384613|406755|406756|421550|423862|536698|536698|543431|543433|543435|543437|543438|543443|543445|543446|543449|543701|543702|543704|543753|543771|543775|543778|543780|543782|543786|543788|543789|543861|543866|543867|543869|543869|543873|543875|543876|543879|578013|581726|609081|623140|686762|691875|765160|798562|858721|894577|894578|894579|894580|894581|894582|894583|894584|894585|894586|894587|894588|894589|894590|894591|894592|894593|894594|896122|962059|963236|971870|971871|971872|971873|971874|971875|971876", + "text": "Cockayne syndrome type A" + }, + { + "baseId": "16755|31619|31817|70482|70487|134454|134459|134460|134461|134462|134463|134464|134465|134466|135137|137870|137873|137874|137876|137877|137880|137881|137882|137883|137884|137887|137889|137891|137892|137897|187995|188003|188007|188009|191753|193374|215505|237323|242189|242190|242191|242192|247041|255456|255457|259255|271456|297932|297944|300095|304363|310384|310391|310392|310405|310413|310414|310463|315483|315490|315526|315555|321491|321510|321549|321588|322273|322279|322288|322302|322309|322331|333738|340492|341868|341877|341879|353732|360919|400521|400523|400529|400665|400667|401098|401100|401337|413430|429758|429759|465041|465045|465053|465057|465726|465919|529246|529434|529436|529444|529465|529466|529467|529771|529772|529774|567671|567677|567678|569972|569973|573713|643908|643909|643910|643911|643912|643913|643914|643915|643916|643917|643918|643919|643920|643921|652453|684573|684574|684577|688527|692846|739952|754899|797245|820765|843092|843093|843094|843095|843096|843097|843098|843099|843100|843101|843102|843103|843104|843105|843106|843107|843108|843109|843110|843111|843112|851649|851651|852620|927558|927559|927560|927561|927562|927563|927564|937217|937218|937219|937220|940343|949164|949165|949166|949167|957624|957625|957626|957627|960834|970356", + "text": "Cockayne syndrome" + }, + { + "baseId": "16758|16759", + "text": "Preeclampsia/eclampsia 4" + }, + { + "baseId": "16760|16761|16762|16763|141077|141077|141078|141078|141079|141080|165818|165819|165820|212515|213812|221621|231652|249211|249214|252051|252053|252054|252054|252055|252056|252057|298724|298725|298731|298744|301199|301202|301203|301204|301206|301208|301209|301210|301213|301214|301219|305557|305565|305566|305567|305569|305570|305571|305582|305587|305686|305687|305691|368286|368638|395001|406786|440905|521666|521916|578440|626307|651610|683001|683751|895193|895194|895195|895196|896177|896178|896179", + "text": "Charcot-Marie-Tooth disease, type 4J" + }, + { + "baseId": "16760|16762|16766|16767|141077|141077|141078|141078|141079|141080|212515|221621|231652|249211|249212|249213|249214|249215|252051|252053|252054|252054|252055|252056|252057|298724|298725|298731|298744|301199|301202|301203|301204|301206|301208|301209|301210|301213|301214|301219|305557|305565|305566|305567|305568|305569|305570|305571|305582|305587|305686|305687|305691|368286|368638|395001|406786|521666|521916|578440|651610|683001|683751|790574|895193|895194|895195|895196|896177|896178|896179", + "text": "Amyotrophic lateral sclerosis type 11" + }, + { + "baseId": "16760|16762|38909|104217|165502|191839|213136|222425|237049|241567|242045|250808|264531|284698|288008|333845|384443|400111|400608|441283|481797|513590|610538|633837|683149|697294|719843|848494|861332|861333|861334|861335|861337|861339|861340|861341|861342|861345|861356|861357|861358|861387|861388|861390|861391|861394|861401|861402|861403|861404|861405|861406|861407|861408|861418|861422|861423|861425|873576|964785|964787|964788|964789|964790|964791|969094|969095|969096|969097|969098|969099|969100|969101|969102|969103|969104|969105|969106|969107|969108|969109|969110", + "text": "Amyotrophic lateral sclerosis" + }, + { + "baseId": "16760|16761|65664|65665|65666|65667|301209|384430|384431|395001|395176|406786|440905|626307|788789|918992|920218", + "text": "Yunis-Varon syndrome" + }, + { + "baseId": "16768|16769|16770|16771|251833|251834|251835|251836|296684|296686|296687|296689|296695|296705|296706|296711|296712|296714|298536|298542|298543|298548|298549|298555|298557|298562|298563|302672|302675|302676|302678|302682|302684|302695|302696|302697|302965|302967|302971|302980|302989|302991|302995|303000|303001|303008|303013|303014|359546|622225|622226|626323|626324|626325|626326|626327|626328|626329|626330|626331|626332|626333|626334|626335|626336|626337|626338|626339|626340|626341|626342|626343|893739|893740|893741|893742|893743|893744|893745|893746|893747|893748|893749|893750|893751|893752|893753|893754|893755|893756|893757|893758|893759|893760|893761|896073", + "text": "Autosomal recessive congenital ichthyosis 6" + }, + { + "baseId": "16772|16773|45848|45849|45850|45851|45852|45853|48382|48383|48384|48385|142814|142815|142816|142817|142818|142819|142820|181281|181282|181283|190412|190413|195317|209446|209448|209449|209451|209452|209453|209454|209456|209457|209458|209459|209462|209463|209465|209466|209467|209469|209470|209472|209473|209474|209475|209480|209481|209482|209484|209486|209489|209491|209492|221089|224190|224191|226716|226717|228357|228358|238212|238217|249764|257944|257945|257946|359313|359326|364080|364674|364724|364811|364819|364908|364915|364920|364924|390973|390987|390988|390989|391048|391061|391067|391069|391073|391083|391086|405082|414765|425338|425342|433915|447532|447533|447643|447644|447682|447787|447788|447789|447792|447795|447797|447807|447808|447810|447833|447852|447853|498275|509137|509144|509149|509152|509157|509159|509160|511243|515461|515463|515502|515550|515551|515556|515567|515578|515587|515615|515617|556858|556860|556862|556874|557001|557003|557155|557162|557171|557173|557175|558357|614208|614209|627381|627382|627383|627384|627385|627386|627387|627388|627420|627421|627422|627423|627424|627425|627426|627427|627428|627429|650517|679733|683310|683312|685090|685625|685633|685635|695028|718766|718768|780597|799199|823485|823486|823487|823488|823489|823513|823514|823515|823516|823517|823518|823519|823520|823521|823522|921849|921850|921851|921852|921862|930330|930339|930340|930341|930342|930343|941775|941776|941777|952303|952306|952307", + "text": "Shprintzen-Goldberg syndrome" + }, + { + "baseId": "16774|16775|16776|16777|16778|16779|34083|34084|34085|34086|34087|34088|34089|34090|34091|34092|34093|34094|34095|34096|34097|34098|34099|34101|34102|34103|34104|168585|168586|168587|168588|193459|193461|195273|207539|207540|253098|265638|271769|273926|305058|305062|305067|305068|305069|305075|305084|305085|305096|305098|305099|305101|305103|305105|308791|308793|308794|308805|308811|308813|313969|313973|313984|313985|313986|313987|313989|313993|313994|313999|314003|314006|314009|314035|314041|314052|314067|314074|314090|314099|314100|314103|314104|314105|314108|584600|711480|766752|766754|766756|787568|787570|788827|792773|899409|899410|899411|899412|899413|899414|899415|899416|899417|899418|899419|899420|899421|899422|900476|978465|978466|978467|978468|978469", + "text": "Roberts-SC phocomelia syndrome" + }, + { + "baseId": "16781", + "text": "Intrinsic factor deficiency, congenital, susceptibility to" + }, + { + "baseId": "16781|16784|16785|16786|16787|204450|204451|204452|314343|314344|314347|314348|314350|320941|320964|320966|327032|327033|327037|328083|328088|328089|328090|328097|328102|433589|564748|564750|567344|570707|609795|620406|640159|640160|701822|712901|730774|752714|768494|768495|787990|818291|868145|868146|868147|868148|868149|868662|926276|926277|947504|956533", + "text": "Intrinsic factor deficiency" + }, + { + "baseId": "16788", + "text": "Dopamine beta-hydroxylase activity" + }, + { + "baseId": 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+ "text": "Orthostatic hypotension 1" + }, + { + "baseId": 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+ "text": "Lynch syndrome I" + }, + { + "baseId": 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+ "text": "Lynch syndrome" + }, + { + "baseId": 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+ "text": "Hereditary nonpolyposis colorectal neoplasms" + }, + { + "baseId": "16794|16803|23978|23980|24273|24276|24284|24284|32119|32126|32127|32130|32136|32138|32144|45202|45233|45350|50032|50071|50072|50084|50085|50148|50152|50153|51362|94679|94763|94786|94812|94816|94826|94834|94836|94843|94898|94947|94971|95036|95079|95127|95179|95218|95225|95362|95406|95427|95485|95488|95506|95556|95606|95622|95650|95759|95780|95916|95926|95987|95994|96029|96044|96049|96094|96129|96220|96279|96330|96378|96465|96516|96572|96611|96710|96775|96792|96795|96805|96815|96818|96841|96841|96850|96857|133027|133050|133072|133076|133086|133227|133237|133248|133249|133252|133253|133255|138590|139651|150473|150877|150979|151013|151078|151946|152204|152291|152364|152385|171076|179989|180098|180145|180148|180263|180273|181907|181971|181998|181998|182130|182257|182281|182738|182807|212191|212214|212225|221236|221251|221252|221295|221394|221405|221705|221713|231655|231678|231692|232602|232837|233515|233544|233555|239148|259868|361855|369830|392813|392893|395935|405879|405897|406198|406222|407204|432523|451404|452376|472775|473109|473493|474621|474639|483975|487316|518546|523007|562700|789372|919108|920243|920244|964664|965451", + "text": "Turcot syndrome" + }, + { + "baseId": "16794|16797|16800|16803|16813|32138|45202|50071|50072|50084|50085|95054|95079|95127|95179|95218|95225|95406|95421|95427|95485|95488|95506|95556|95606|95622|95650|95759|95780|95916|95926|95987|95994|96029|96044|96094|96129|96279|96330|96378|96465|96572|96710|133072|133076|133086|150473|171076|179989|180145|180148|181907|182257|182281|212191|221236|221394|221405|232602|239148|406198|406222|452376|472775|473493|562700|613998", + "text": "Muir-Torr\u00e9 syndrome" + }, + { + "baseId": "16798|16799|24281|45255|94646|94694|94804|94807|94812|94813|94814|94818|95037|95201|95227|95255|95310|95313|95360|95374|95384|95404|95419|95466|95576|95581|95584|95615|95759|95786|95805|95806|95855|95985|96029|96093|96116|96187|96241|96265|96343|96428|96496|96577|96580|96648|96652|96729|96737|96765|96774|96793|96798|96818|96851|133112|133253|150580|150772|150994|152364|152570|180099|180273|182030|182160|182782|182807|185992|186313|212611|214607|214608|221222|228967|231656|232847|233486|233596|238932|240100|244380|359365|359807|392853|392918|393047|405910|405949|405952|419548|427162|451200|451635|474770|484101|487006|518417|518434|610916|809090|915020|916866|916871|916872|916875|916878|917008|917426|920527|921457|964738|964739|969148|970062|970063|970064|970065|970066|970067|970068|970070|970071|970072|972530|972549|975755|975756|975770|983930|983950", + "text": "Hereditary nonpolyposis colon cancer" + }, + { + "baseId": "16801", + "text": "MSH2 POLYMORPHISM" + }, + { + "baseId": "16801|21985|24368|31619|32700|45243|45982|46604|47727|49984|50006|50089|50199|50251|50254|50257|50266|50270|66533|94815|94834|96346|96428|96572|133160|133610|139629|150591|151001|151773|167486|167491|180144|182185|182304|185548|238862|286667|360962|405963|457119|468105|475637|485590|514061|551416|551419|624834|677245|790251|809656|970742|970743|970915", + "text": "Breast carcinoma" + }, + { + "baseId": "16806|16807|96202|96324", + "text": "MISMATCH REPAIR CANCER SYNDROME 2" + }, + { + "baseId": "16814|16815|125902|142831|142832|142833|142834|142838|142839|142840|142841|142842|142843|142844|142845|142847|142848|142850|153738|168882|168883|168884|168885|168886|168888|168889|202631|202639|202644|207916|262351|269133|315273|315274|315276|315279|315281|315290|315307|315312|315313|315323|315331|315333|315336|315337|322123|322127|322131|322132|322136|322137|322138|322144|322149|322150|322156|322163|322177|322178|328198|328199|328200|328202|328217|328218|328219|328230|328235|328243|328244|328249|329515|329517|329525|329526|329550|329563|329570|329572|329577|429321|456110|456372|456374|456375|456380|456382|456384|456660|456667|457028|457031|459965|459976|459977|459986|459988|459991|459993|460002|460004|460011|460016|460018|460026|460100|460107|460109|460111|460117|460118|460120|460123|460125|460128|460131|460133|460139|460142|460144|460146|460149|460150|460152|460157|460163|460368|460373|460374|460396|460400|460402|460404|460406|460409|460410|460412|460417|460429|460430|460439|460440|460446|460796|460797|460802|460817|460818|460836|460838|460840|460857|460858|460862|460863|460865|460877|460879|460882|460884|460887|460888|460893|460896|460905|460906|522087|522090|522091|522803|522809|525211|525220|525221|525222|525223|525231|525234|525240|525383|525391|525392|525393|525397|525494|525496|525498|525500|525503|525508|525513|525684|525689|525693|525707|525710|525712|525713|525714|525717|525719|525722|561142|561244|561319|561326|563804|563811|563816|563817|563818|563823|563829|563832|563840|563844|563848|563985|564637|564648|564649|564650|564652|564660|564663|564665|564666|566333|566336|566337|566340|566375|566376|566380|566381|566385|566388|566390|567554|569706|569713|569720|569730|571009|579797|610292|614552|635565|635566|635567|635568|635569|635570|635571|635572|635573|638994|638995|638996|638997|638998|638999|639000|639001|639002|639003|639004|639005|639006|639007|639008|639009|639010|639011|639012|639013|639014|639015|639016|639017|639018|639019|639020|639021|639022|639023|639024|639025|639026|639027|639028|639029|639030|639031|639032|639033|639034|639035|639036|639037|639038|639039|639040|639041|639042|639043|639044|639045|639046|639047|639048|639049|639050|651702|652110|652143|652240|692870|692872|692873|692874|692875|699777|699778|699779|699780|699781|701394|701395|701396|701397|701398|701399|701400|701401|701402|712422|712425|712427|712428|724002|724003|724004|724005|724006|724007|737546|737547|737548|744622|750367|750369|750370|752167|752170|752173|752174|752176|752179|759944|766031|767843|767846|767848|767849|767851|767852|767853|767854|767858|767859|775549|778097|778101|783652|783653|796426|820225|832904|832905|832906|832907|837004|837005|837006|837007|837008|837009|837010|837011|837012|837013|837014|837015|837016|837017|837018|837019|837020|837021|837022|837023|837024|837025|837026|837027|837028|837029|837030|837031|837032|837033|837034|837035|837036|837037|837038|837039|837040|837041|837042|837043|837044|837045|837046|837047|837048|837049|837050|837051|837052|837053|837054|837055|837056|837057|837058|837059|837060|837061|837062|837063|837064|837065|837066|837067|837068|837069|837070|837071|837072|837073|837074|851780|851782|852050|852318|852555|868850|868851|868852|868853|868854|868855|868856|868857|868858|868859|868860|868861|868862|868863|868864|868865|868866|868867|868868|872145|924622|924623|925847|925848|925849|925850|925851|925852|925853|925854|925855|925856|925857|925858|925859|925860|925861|925862|925863|925864|925865|925866|925867|925868|925869|925870|925871|925872|925873|925874|925875|925876|925877|925878|925879|925880|925881|925882|925883|933611|933612|935087|935088|935089|935090|935091|935092|935093|935094|935095|935096|935097|935098|935099|935100|935101|935102|935103|935104|935105|935106|935107|935108|935109|935110|935111|935112|935113|935114|935115|935116|935117|935118|935119|935120|935121|935122|940961|945352|945353|946961|946962|946963|946964|946965|946966|946967|946968|946969|946970|946971|946972|946973|946974|946975|946976|946977|946978|946979|946980|946981|946982|946983|946984|946985|946986|946987|956117|956118|956119|956120|956121|956122|956123|956124|956125|956126|956127|956128|956129|956130|956131|956132|960721", + "text": "Early myoclonic encephalopathy" + }, + { + "baseId": "16816|16818|16819|16820|16824|16825|16828|16829|16830|16831|16835|16836|16837|16838|16840|16841|16842|16843|16844|16847", + "text": "Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency" + }, + { + "baseId": "16816|16819|16821|16824|16826|309338|309339|309341|314007|314008|314016|314017|314018|314022|319908|319911|319917|320451|320457|404785|425860|429040|620342|737315|767606|767607|767608|783527|865317|865318|865319|865320|865321|865322|865323|865324|865325|868430|978615|978616|978617|978618|978619|978620|978621|978622|978623", + "text": "Deficiency of steroid 17-alpha-monooxygenase" + }, + { + "baseId": "16817|16821|16822|16823|16832|16833|16834|16839|16845|16846", + "text": "Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency" + }, + { + "baseId": "16826|16827", + "text": "Isolated 17,20-lyase deficiency" + }, + { + "baseId": "16848|16849|16850|16851|16852|16853|16854|16855|39741|49794|49795|49796|49797|49890|49891|57129|57130|57131|57132|57133|57134|175959|176103|222418|230561|242033|242034|242035|242036|242038|264838|322322|322328|322333|322334|322338|322343|322345|322347|322350|322351|322352|322356|322362|322364|322367|322368|322369|322371|322372|322386|322393|331649|331651|331652|331655|331665|331666|331674|331675|331687|331688|331693|331697|331699|331702|338625|338629|338637|338639|338645|338652|338654|338657|338664|338666|338669|338674|338676|338678|338680|338682|338686|340338|340339|340344|340345|340347|340351|340353|340355|340357|340362|340363|340364|340367|340368|340370|340372|340373|360244|361214|373383|373387|373388|400071|400528|400554|400555|400558|422010|464153|464168|464172|464174|464176|464697|464706|464708|464710|464715|464717|464720|464721|464975|464981|464988|464993|485754|485755|497043|504728|512136|528724|528727|528782|528785|529110|529111|529116|529252|529256|529257|529263|529266|538024|538025|538026|538027|538028|552852|566864|566978|566981|566987|566991|566992|568569|569323|569328|573217|573221|624494|624495|643113|643114|643115|643116|643117|643118|643119|643120|643121|643122|643123|643124|643125|643126|653035|688401|805820|820688|820689|842240|842241|842242|842243|842244|842245|842246|842247|873292|873293|873294|873295|873296|873297|873298|873299|873300|873301|873302|873303|873304|873305|873306|873307|873308|873309|873310|873311|873312|873313|873314|873315|873316|873317|873318|873319|873320|873321|873322|873323|873324|873325|873326|873327|873328|873329|873330|873331|873332|873333|873334|873335|873336|873337|873338|873339|873340|873341|873342|873343|873344|873345|873346|919568|927300|936899|936900|948850|948851|948852|948853|948854|948855|948856|948857|948858|957396|957397|957398|957399|957400|960820", + "text": "Legius syndrome" + }, + { + "baseId": "16856|16857|16858|34511|34512|34513|34514|34515|34516|34517|34518|39740|101805|140421|169015|169015|169018|169019|169020|169021|169022|169023|169024|169025|169026|169027|169028|169031|169031|169032|169032|169033|169034|169036|169037|169038|169038|169039|169039|169040|169041|169042|169043|169044|169045|191939|194480|208029|208038|254844|319318|319320|319324|319331|319335|319339|319340|319344|327833|327837|327838|327860|327863|327872|327873|327877|327879|327880|327888|327890|327892|327893|334132|334133|334135|334148|334152|334165|334170|335735|335772|335797|335804|335810|335820|335829|335830|335833|335838|335845|335846|404812|426039|429484|437953|437953|488204|488238|490846|513331|587191|870972|870973|870974|870975|870976|870977|870978|870979|870980|870981|870982|870983|870984|870985|870986|870987|870988|870989|870990|870991|870992|870993|870994|870995|870996|870997|870998|870999|872321|872322|965989", + "text": "Primary autosomal recessive microcephaly 6" + }, + { + "baseId": "16856|18493|18494|18495|34421|34422|34458|34554|34555|34556|34557|39596|39597|39598|39599|102020|102022|102023|141888|168642|168643|168644|168645|168647|168648|168649|168650|168651|168653|168654|168655|168656|168657|168658|168659|168660|168661|168662|168663|168664|168665|168666|168667|168668|168669|168670|168671|168672|168674|168675|168676|168677|168684|168685|168686|168687|168689|168692|168693|168694|168695|168696|168697|168698|168700|168701|168702|168703|168705|177255|177832|191095|191285|193676|195416|196068|204410|207565|207566|207567|207568|263004|268492|269728|269760|271359|305726|305728|305729|305737|305738|305762|305766|305767|305768|309735|309736|309737|309765|309766|309771|314972|314987|315019|315021|315082|315086|315104|315106|315107|315136|315137|315146|407440|425803|428850|428852|428853|428854|490847|491170|538402|577066|620807|626179|682798|682799|723165|736734|801848|861607|899924|899925|899926|899927|899928|899929|899930|899931|899932|899933|899934|899935|899936|899937|899946|899950|899951|899952|899953|899954|899955|899956|899957|899958|899959|899960|899961|899962|899963|900511|904224|904225|919172|970885|975861", + "text": "Primary autosomal recessive microcephaly 1" + }, + { + "baseId": "16859|106652|106652|135519|135520|135521|135521|135523|135523|135524|135524|135525|135526|206757|206757|206758|206758|206762|206762|237363|237363|270346|271432|271432|271433|279278|279279|279280|279285|279286|279295|279300|279301|279308|279309|279310|279311|279318|279318|279324|279324|279325|279329|279329|279330|279343|279490|279491|279493|279494|279496|279497|279498|279502|279506|279507|279508|279508|279509|279512|279512|279534|279535|279536|279545|279545|279549|280795|280797|280798|280799|280804|280805|280809|280810|280813|280822|280823|280825|280825|280830|280835|280837|280839|280845|280846|280847|280850|280851|280855|280860|280863|280872|280873|280874|280875|280876|280877|280878|280887|280887|280897|280909|280913|280923|280924|280924|280939|280940|280956|280957|280958|364904|364905|425336|427712|447500|447631|447634|447736|447738|447738|447743|447746|498243|515542|515555|535673|556790|557153|558347|558347|627378|627379|627380|650679|690489|690489|690490|696474|696475|696475|696477|777096|780569|801776|823482|823483|823484|858672|858673|863719|863720|863721|863722|863723|863724|863725|863726|863727|863728|863729|863730|863731|863732|863733|863734|863735|863736|863737|863738|863739|863740|863741|863742|863743|863744|863745|863746|863747|863748|863749|863750|863751|863752|863753|863754|863755|863756|863757|863758|863759|865128|865129|865130|921848|930328|930329|940619|941768|941769|941770|969093", + "text": "Cataract-intellectual disability-hypogonadism syndrome" + }, + { + "baseId": "16860|205733|972782", + "text": "Mental retardation, autosomal recessive 2" + }, + { + "baseId": "16861|19441|19442|21008|132639", + "text": "Hypertriglyceridemia, susceptibility to" + }, + { + "baseId": "16862|39738|44164|44165|44166|44167|54729|54730|54732|54733|54734|54735|54736|54737|54738|172328|172466|206697|275806|275807|275810|275811|275824|275825|275826|275829|275913|275916|275921|275932|275942|275950|275953|276010|276015|276035|276036|276038|276039|276040|276041|276042|276043|276044|364350|496145|497969|513485|578357|609341|620703|731539|855104|861862|861863|861864|861865|861866|861867|861868|861869|861870|861871|861872|861873|861874|864955|864956|864957", + "text": "Chudley-McCullough syndrome" + }, + { + "baseId": "16862|21526|21527|32043|246783|262397|389218|389253|514275|682182|905841|905845", + "text": "Autosomal recessive non-syndromic sensorineural deafness type DFNB" + }, + { + "baseId": "16863|16864|16865|16867|16868|39737|213953|214140|583120", + "text": "Hypotrichosis 8" + }, + { + "baseId": "16865|16866", + "text": "Autosomal recessive woolly hair 1, with or without hypotrichosis" + }, + { + "baseId": "16869|16870|16871|16872|16873|39733|39735|39736|99374|166160|177086|195605|196206|212287|221358|221359|250855|250857|288263|288275|288277|288288|288289|289045|289046|289048|289058|289061|291958|291966|291985|291988|291999|292001|292003|292109|292110|292115|393234|620099|683527|686282|790317|790318|800368|827325|887716|887717|887718|887719|887720|887721|887722|887723|887724|887725|887726|887727|887728|891556", + "text": "Senior-Loken syndrome 5" + }, + { + "baseId": "16869|39892|102064|177569|177574|195571|221112|222267|254734|280562|280564|281544|281592|281829|281981|282784|283087|283088|288278|289062|291965|291998|292112|318604|326794|326807|326864|326876|332978|334650|443009|496723|800445|800485", + "text": "Renal dysplasia and retinal aplasia" + }, + { + "baseId": "16874", + "text": "Combined oxidative phosphorylation deficiency 2" + }, + { + "baseId": "16875|16876|16877|16878|16879|16880|16881|16882|336576|336579|336580|336584|336586|336590|346287|346291|346296|350538|350541|350542|350545|351586|351587|351590|886679|886680|886681|886682|886683|886684|886685|886686|887501", + "text": "Glucocorticoid deficiency 2" + }, + { + "baseId": "16880|18297|18298|18299|18300|18301|18302|18303|18304|18305|33464|330751|330758|330760|330789|330800|330801|330807|330809|330812|330813|340969|340971|340981|340986|340990|341000|341003|341015|341017|341022|341031|341033|341035|341040|341044|341049|341050|346567|346568|346585|346588|346589|346590|346596|346601|346603|346605|346607|346612|346613|346614|346616|346624|346625|347888|347889|347892|347895|347897|347900|347902|347909|347917|347918|347925|347928|347931|347934|437707|437708|437709|437710|437711|437735|485789|620616|704544|741303|878933|878934|878935|878936|878937|878938|878939|878940|878941|878942|878943|878944|878945|878946|878947|878948|878949|878950|878951|878952|878953|878954|878955|878956|878957|878958|878959|878960|878961|878962|878963|878964|878965|878966|878967|878968|878969|878970", + "text": "ACTH resistance" + }, + { + "baseId": "16883|16884|16885|16886|16887|226712|539007", + "text": "Trichothiodystrophy, nonphotosensitive 1" + }, + { + "baseId": "16888|16889|16890|622379", + "text": "Glutaryl-CoA oxidase deficiency" + }, + { + "baseId": "16891|16892|16893|16894|16895|16896|16897|168054|168055|168056|168060|168062|168063|168064|168065|168066|168067|168068|168069|168070|168072|168073|186291|206987|206990|206991|215255|285583|285585|285586|285591|285592|285594|285600|285602|285603|285607|285608|286279|286280|286282|286283|286284|286299|286301|286302|286306|286322|286335|286337|286338|288594|288597|288599|288601|288607|288608|288611|288639|288640|289003|289009|289011|289016|289019|289020|289031|289033|289034|289035|289037|289039|425483|428033|428039|516224|557982|560551|561240|620075|620743|620744|629747|629748|629749|629750|708190|719783|733369|743904|743925|747488|747491|774691|790222|819148|826109|826110|826111|884421|884422|884423|884424|884425|884426|884427|884428|884429|884430|884431|884432|884433|884434|884435|884436|884437|884438|884439|884440|884441|884442|884443|884444|884445|884446|884447|884448|884449|884450|884451|884452|884453|884454|884455|884456|887331|887332|887333|887334|887335|922676|931262|931263|961758", + "text": "D-2-hydroxyglutaric aciduria 1" + }, + { + "baseId": "16898|16899|16900|16901|16902|135554|167389|186007|210907|210908|210911|221341|221342|226729|244400|265654|287484|287491|287494|287495|287504|287505|287508|288253|288254|288256|288258|288259|288260|288270|288272|288273|290927|290939|290942|290969|290980|290982|291169|291171|291172|291173|291177|291193|291196|291197|291201|291222|366824|367046|367984|391499|393125|393136|393259|393485|393487|448552|451733|451735|451826|518650|518664|518674|518676|518727|518730|518731|518836|518839|518843|557513|559193|559195|559197|559199|559201|560991|562097|562099|588014|609146|630605|630606|630607|630608|650812|650822|651096|819278|819279|827086|827087|827088|827089|827090|827091|827092|827093|885602|885603|885604|885605|885606|885607|885608|885609|885610|885611|885612|885613|885614|885615|885616|885617|885618|885619|885620|885621|885622|885623|885624|885625|885626|885627|885628|885629|922941|922942|931612|931613|939917|940726|953249|959658|962032|964208", + "text": "Spastic paraplegia 31, autosomal dominant" + }, + { + "baseId": "16903|16904|16905|16906|16907|16908|16909|289432|289441|289442|289450|289451|289465|290220|290223|293305|293316|293747|293748|359498|418983|418987|418993|418994|418995|418997|418998|419000|419001|452119|452270|452274|452276|452357|452358|518945|553153|559365|561232|561236|581296|631024|651039|819344|819345|819346|819348|827655|850918|888358|888359|888360|891616|918812|940741|943395|970759", + "text": "Cerebral cavernous malformations 3" + }, + { + "baseId": "16910|16911", + "text": "Wilms tumor 5" + }, + { + "baseId": "16912|16913|16914|16915|48464|48465|48466|48467|76349|76350|76351|247067|254339|254340|254341|254342|254343|254344|254346|254348|254349|254351|254352|254353|254354|254355|254356|254357|254358|315338|315342|315344|315348|315349|315352|315358|322187|322188|322189|322201|322205|322210|322211|328250|328260|328261|328265|328267|328270|328271|328278|328281|328294|328300|328307|328308|329603|329608|329609|329610|425945|461471|461474|461477|461479|461485|461682|461684|461686|461687|461689|462002|462008|462009|462015|462016|462019|462311|462313|462316|462322|462327|462328|462331|526491|526498|526503|526547|526554|526555|526558|526790|526791|526796|527074|527076|564916|564917|564924|564926|566203|566205|566207|567558|567560|571010|571023|571035|571037|571043|620423|640479|640480|640481|640482|640483|640484|640485|640486|640487|640488|652135|652603|687830|687831|693116|693118|693119|702011|702012|713218|713219|724771|738334|753005|768817|768820|787840|820419|839115|839116|839117|839118|839119|839120|839121|839122|839123|839124|839125|839126|839127|839128|839129|839130|839131|839132|839133|839134|839135|839136|851463|868869|868870|868871|868872|868873|868874|868875|868876|868877|868878|868879|868880|868881|868882|868883|868884|868885|868886|868887|868888|872146|872147|872148|872149|919397|926402|926403|926404|926405|926406|926407|926408|935835|935836|935837|935838|935839|935840|947720|947721|947722|947723|956704|956705|956706|956707|965653|965654", + "text": "Neutral lipid storage myopathy" + }, + { + "baseId": "16916|16917|16918|16919|16923|16924|16925|16926|16927|16928|16929|106572|224657", + "text": "METHYLMALONIC ACIDURIA, mut(0) TYPE" + }, + { + "baseId": "16917|16920|16923|16925|16926|98587|98588|98589|98591|98592|98594|106572|177367|193400|200114|200117|200122|200123|200124|216037|216044|216045|236987|274267|274558|303391|307943|308067|415056|439145|487201|490207|501673|522062|543691|544017|544019|544021|544043|544144|560736|565694|634940|699613|722064|722065|765712|765715|782553|978223", + "text": "Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency" + }, + { + "baseId": "16919|16920|16925|16926|18134|18199|40093|40094|98595|102137|106572|135084|139972|139973|139974|139976|139977|139978|139979|177367|200054|200055|200110|200111|200114|200116|200121|200123|200124|200226|200304|200305|215029|216025|216037|216039|216044|216045|216058|216059|224619|254395|254396|287871|290415|292317|292318|292319|292341|292348|292367|293762|293773|297053|297067|297093|297097|297169|297190|300514|300520|300527|303401|308052|315908|315917|315921|315923|315924|315935|315941|315943|323051|323053|323082|323083|323084|323095|323115|323134|323137|323148|329123|329195|329197|329199|329206|329208|330322|330325|330357|330362|330381|353576|374720|409781|409783|415056|422125|439337|453275|487063|487143|487190|487201|505854|543081|543691|544019|544026|544041|544043|544057|544133|544137|544140|544144|546844|565694|621750|634947|645125|656395|715199|748753|755535|771186|771192|844484|916967|979819|979820|979821|979822|979823|979824|979825|979826|979827|979828|979829|979830|979831|979832|979833|979834|979835|979836|979837|979838|979839|979840|979841|979842|979843|979844|979845|979846|979847|979848|979849|979850|979851|979852|979853|979854|979855|979856|979857|979858|979859|979860|979861|979862|979863|979864|979865|979866|979867|979868|979869|979870|979871|979872|979873|979874", + "text": "Methylmalonic acidemia" + }, + { + "baseId": "16920|16921|16922", + "text": "METHYLMALONIC ACIDURIA, mut(-) TYPE" + }, + { + "baseId": "16930", + "text": "Pseudofolliculitis barbae, susceptibility to" + }, + { + "baseId": "16931|16932|16933|76666|190882|238658|250572|250573|284653|284658|284659|284662|284665|284666|284667|284672|284676|284677|284681|284686|284688|284690|285339|285345|285346|285349|285350|285351|285352|285363|285370|285373|285375|285377|285378|287514|287517|287530|287531|287547|287557|287562|287569|287588|287597|287604|287605|287778|287786|287795|287796|287800|287801|287832|287836|287847|353558|363930|392689|425468|450383|450388|450695|450702|450705|450707|450712|508776|513522|517702|517710|517719|517830|517924|517926|559105|559107|559109|559111|560930|883734|883735|883736|883737|883738|883739|883740|883741|883742|883743|883744|883745|883746|883747|883748|918736|918737|918738|964193|964403", + "text": "Paroxysmal nonkinesigenic dyskinesia 1" + }, + { + "baseId": "16931", + "text": "Episodic hemiplegia" + }, + { + "baseId": "16931|169841|590085|801114", + "text": "Paroxysmal dyskinesia" + }, + { + "baseId": "16931|360813|966891", + "text": "Paroxysmal dystonia" + }, + { + "baseId": "16932|16933|238657|250572|284658|284659|284665|284667|285339|285345|285346|285351|287547|287562|287796|287800|287801|363930|392580|392689|392706|450391|450536|450621|450623|450695|450706|450712|450713|450715|514459|517712|517723|517800|517802|517814|517824|517827|517926|517928|557882|557929|560895|560913|560923|629452|629453|629454|629455|629456|629457|629458|629459|629460|629461|629462|629463|650913|686142|686143|686144|686145|774662|781169|819124|825728|825729|825730|825731|825732|825733|825734|825735|825736|825737|825738|825739|825740|825741|851398|922570|922571|922572|922573|922574|922575|922576|922577|931142|931143|931144|931145|931146|931147|931148|931149|931150|931151|939875|939876|942607|942608|942609|942610|952931|952932|952933|952934", + "text": "Paroxysmal non-kinesigenic dyskinesia" + }, + { + "baseId": "16934|16935|16936|16937|16938|16939|16940|16941|16942|16943|16944|36182|36312|36313|36314|36315|36317|36318|36319|36320|36322|36323|36324|36327|36329|36330|36331|36332|36333|36334|36335|36336|36337|36338|36339|36340|36342|36343|36344|36345|36346|36347|36348|36349|36350|36351|36353|36354|36355|36357|36358|36359|36360|36363|36364|36365|36366|36367|36368|36369|36370|36371|36372|36373|36374|36376|36377|36378|36379|36380|36381|36382|36383|36384|36385|36386|36387|36388|36389|36390|36391|36393|36394|36395|36396|36398|36401|36402|36405|36406|36407|36409|36410|36411|36412|36413|36414|36415|36416|36417|36418|36419|36421|36422|36423|36424|36425|36426|36427|36428|36429|36430|36431|36432|36433|36434|36435|36436|36437|36438|36439|36440|36441|36442|46830|46832|46833|46836|46844|46845|46846|46848|46849|46851|46852|46853|47043|47160|47162|47163|47164|47165|47166|47167|47168|47197|98310|98311|165804|165805|165806|165807|165808|165809|165810|186677|186678|193364|200042|264145|267157|270601|273348|274306|289227|289229|289230|289238|289243|289255|290016|290036|290037|293069|293082|293088|293089|293092|293101|293118|357290|357291|357292|357293|357294|357295|357296|357297|357298|357299|357300|357301|359456|360849|367000|367247|368264|406135|406136|421424|432545|432546|451903|452116|452259|452267|491712|518944|518948|519125|542845|542846|542857|542858|542860|542865|542866|542868|542870|542877|542887|542888|542892|542895|542897|543034|543042|543043|543045|543053|543054|543056|543085|543086|543090|543108|543112|543119|543121|543128|543131|543132|543133|543138|543139|543146|559363|561229|578666|578667|578668|578669|578670|578671|578672|578673|578674|578675|578676|578677|578678|578679|578680|578681|578682|578683|578684|578685|578686|578687|578688|578689|578690|578691|578692|578694|578695|578697|578698|578700|581751|609502|620115|650307|650308|650309|650316|650317|650327|694976|694980|743519|743520|758689|758690|758691|758692|758693|774287|774289|786946|788761|790346|790347|790348|790349|790350|790351|790352|790353|818383|819342|920182|929853|939713|959389|963320|963321|977814|977815", + "text": "Biotinidase deficiency" + }, + { + "baseId": 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+ "text": "Global developmental delay" + }, + { + "baseId": "16945|16946|16947|16948|16949|16950|16951|16952|16953|98822|98823|141248|141249|141250|141251|141252|141253|141254|141255|141256|200360|200362|200363|200364|200366|200368|200370|200371|200372|200373|200374|200375|200376|200377|200378|200383|257460|336772|336773|336782|336784|336785|336787|336788|336791|336795|336796|336798|336800|336801|336805|336810|336812|336815|336826|336828|346430|346433|346440|346442|346446|346449|346451|346458|346459|346461|346465|346467|346470|346472|346476|346481|346482|346484|350652|350655|350656|350658|350660|350662|350664|350666|350667|350670|350672|350675|350679|350681|350682|350685|350686|350688|350691|351716|351717|351722|351723|351724|351727|351730|351732|351733|351734|351739|351743|351745|351747|351750|351751|351754|351755|351758|351759|353591|353911|358631|358632|364097|377230|378489|379770|410853|415700|415701|420143|469612|469617|471639|487964|507913|508298|508299|508300|508303|533869|533883|534428|549002|549014|549016|549017|549020|549028|549030|549090|549091|549093|549098|549253|549254|549255|549258|549259|549416|549417|549418|549419|549420|549421|573786|573790|575164|581778|648984|648985|648986|648987|648988|648989|653567|694630|694631|694632|728897|728898|728899|728901|731372|742627|742628|745445|757795|757796|773320|773321|773323|773324|773329|773330|773331|773333|773334|773335|776722|786488|792007|821370|821371|821372|848786|848787|848788|848789|848790|848791|848792|848793|851859|886767|886768|886769|886770|886771|886772|886773|886774|886775|886776|886777|886778|886779|886780|886781|886782|886783|886784|886785|886786|886787|886788|886789|886790|886791|886792|886793|886794|886795|886796|886797|887505|887506|887507|887508|887509|929319|929320|951234|951235|958956|958957|958958|958959|958960|958961|958962|972344|972345|972346|972347|972348|972349|972350|972351|972352|972353|972354|972355|972356|980033|980034|980035|980036|980037|980038|980039|980040", + "text": "Holocarboxylase synthetase deficiency" + }, + { + "baseId": "16954", + "text": "SCIANNA BLOOD GROUP SYSTEM, SC:-1,-2" + }, + { + "baseId": "16955", + "text": "SCIANNA BLOOD GROUP SYSTEM, SC:-1,2" + }, + { + "baseId": "16956", + "text": "Radin blood group" + }, + { + "baseId": "16957", + "text": "Antigen in Scianna blood group system" + }, + { + "baseId": "16958|16959|16960|16961|16962|16963|16964|16965|16966|16967|101923|101924|101926|177099|177230|191719|195411|195413|200097|200099|200100|200101|200102|251975|251980|251982|271170|297992|297999|298004|298011|298012|298017|298022|298028|300202|300206|300207|300210|300213|300217|300235|304413|304414|304418|304430|304432|304434|304749|304750|304757|304758|304759|304762|368227|368708|443820|454072|455056|455238|455245|455703|455704|455711|455712|455947|455951|455958|481743|490822|501398|501410|501649|513060|521241|521521|521531|521595|521846|521850|560367|560369|560371|560373|560375|560377|560484|563213|563217|565170|565182|586274|620199|634000|634001|634002|634003|634004|634005|634006|634007|651335|661243|691876|691877|735165|735167|749566|749567|759386|765187|765189|819604|819605|830935|830936|830937|830938|830939|830940|830941|894629|894630|894631|894632|894633|894634|894635|894636|894637|894638|894639|894640|894641|894642|894643|894644|894645|894646|894647|894648|894649|894650|894651|894652|894653|894654|894655|894656|896127|896128|924097|924098|924099|932941|932942|932943|932944|932945|932946|940008|940009|944644|944645|944646|944647|944648|944649|954188|954189|964260|970814", + "text": "3-methylcrotonyl CoA carboxylase 2 deficiency" + }, + { + "baseId": "16968|16969|16970|16971|16972|16973|16974|101834|101836|101837|101839|141882|141883|141884|177088|177821|177822|177823|177824|191076|195739|200045|200046|200047|200050|251038|251043|251044|259755|289630|289632|289638|289640|290370|290371|290373|290376|293450|293453|293463|293977|293996|293997|367017|367272|368297|406159|425534|430991|451990|451995|451996|452001|452224|452226|452330|452333|452336|452340|452486|452491|481680|481681|489554|495181|500104|500406|500595|500598|513260|513261|519026|519031|519036|519038|519044|519200|519212|558860|558862|558864|559401|559403|559405|559407|561302|561306|562620|562621|562626|631083|631084|631085|631086|631087|631088|631089|631090|631091|631092|631093|631094|631095|631096|631097|631098|631099|631100|631101|631102|631103|631104|631105|631106|631107|631108|650979|651041|651043|651071|686378|686379|691342|691343|691345|733927|733928|763747|763749|781616|781617|781618|781620|781621|790368|819357|819358|819359|827758|827759|827760|827761|827762|827763|827764|827765|827766|827767|827768|851033|851552|861591|888453|888454|888455|888456|888457|888458|888459|888460|888461|920189|923106|923107|923108|923109|923110|931853|931854|939933|943435|953401|953402|953403|953404|953405|953406", + "text": "3 Methylcrotonyl-CoA carboxylase 1 deficiency" + }, + { + "baseId": "16968|16969|16973|101924|141882|141884|177099|177822|177823|177824|191076|191719|195739|200045|200047|200099|200100|200102|251982|289632|293997|452001|452224|452226|455711|455947|455958|481743|490822|521595|560377|562620|563217|565182|631090|631092|631096|631102|686378|691342|735165|735167|749567|759386|830939|888458|894631|944649|953403|977821|977822|977823|977824|977825|977826|977827|977828|977829|977830|977831|977832|977833|977834|977835|977836|977837|978185|978186|978187|978188|978189|978190|978191|978192|978193|978194|978195|978196|978197|978198|978199|978200|978201|978202", + "text": "Methylcrotonyl-CoA carboxylase deficiency" + }, + { + "baseId": "16975|16976|16977|16978|16979|16980|16981|16982|23412|47734|47735|47736|47737|47738|47739|47740|47741|47742|47743|47744|47745|47746|47747|47748|47749|47750|47751|47752|47753|47754|47755|47756|47757|47758|47759|47760|47761|47762|47763|47764|47765|47766|47767|47768|47769|47770|47771|47772|47773|47774|47775|47776|47777|47778|47779|47780|47781|47782|47783|47784|47785|47786|47787|47788|47789|47790|47791|47792|47793|47794|47795|47796|47797|47798|47799|47800|47801|47802|47803|47804|47804|47805|47806|47807|47808|47809|47810|47811|47812|47813|47814|47815|47816|47817|47818|47819|47820|47821|47822|47823|47824|47825|47826|47827|47828|47829|47830|47831|47832|47833|47834|47835|47836|47837|47838|47839|47840|47841|47842|47843|47844|47845|47846|47847|47848|47849|47850|47851|47852|47884|227175|237840|237841|237842|237843|237844|237845|237846|237847|237848|237849|237850|237851|237852|237853|317019|317020|317022|317028|317029|317030|317036|317038|317043|317047|317049|324682|324683|324685|324686|324688|324690|324694|324695|324696|324697|324698|324704|324706|324707|324713|324716|324728|324729|324744|324745|324746|324748|324757|324759|324760|324764|324765|330850|330854|330863|330868|330872|330873|330877|330896|330897|330898|332317|332319|332320|332321|332330|332334|332335|332341|332342|332351|332353|332354|332363|332364|332370|332380|332383|332384|332388|332390|332395|332396|332397|332404|353245|437927|462143|462146|462432|463050|527134|527135|527161|527162|527165|527626|537191|565444|566828|568025|568026|568030|571834|571841|571842|577259|619925|620442|641104|641105|641106|641107|641108|641109|641110|641111|652698|684325|684326|684327|685380|693195|693196|693198|693199|695565|738632|738633|753348|769104|778090|793420|839880|839881|839882|839883|839884|839885|839886|869764|869765|869766|869767|869768|869769|869770|869771|869772|869773|869774|869775|869776|869777|869778|869779|869780|869781|869782|869783|869784|869785|869786|869787|869788|869789|869790|869791|869792|869793|869794|869795|869796|869797|869798|869799|869800|872237|872238|872239|919428|919429|919430|919431|926615|936109|936110|936111|940267|948001|948002|948003|948004", + "text": "Parkinson disease 8, autosomal dominant" + }, + { + "baseId": "16979|22089", + "text": "Young-onset Parkinson disease" + }, + { + "baseId": "16983|16984|16985|16986|16987|16988|16989|45768|344604|508932|614468|614469|614470", + "text": "Weill-Marchesani syndrome 1" + }, + { + "baseId": "16990|125789|140823|140824|210976|293959|293966|293967|452475|519022|695187|779047|827755|931852|943433|980911", + "text": "3-methylglutaconic aciduria type V" + }, + { + "baseId": "16991|16992|177530|188766|188767|254273|314839|314840|314841|314848|314850|314851|314855|314856|314866|314881|314882|314886|314889|321579|321581|321591|321593|321594|321595|321605|321606|321613|321614|321623|321651|321655|327684|327689|327690|327693|327694|327695|327698|327699|327700|327712|327716|327719|327731|327735|327752|327753|327756|328782|328790|328799|328801|328804|328806|328807|328809|328810|328811|328818|328822|328824|328832|328834|328836|328841|431757|623308|693100|791159|838825|868378|868379|868380|868381|868382|868383|868384|868385|868386|868387|868388|868389|868390|868391|868392|868393|868394|868395|868396|868397|868398|868399|868400|868401|868402|868403|868404|868405|868406|868407|868408|868409|868410|868411|868412|868683", + "text": "Congenital stationary night blindness, type 2B" + }, + { + "baseId": "16993|16994|16995|16996|16997|16998|16999|17000|17001|17002|17003|17004|17005|17006|17007|17008|17009|17010|17012|17013|17014|17015|17016|17018|17019|17023|44317|44318|79148|79149|79150|79151|79152|79153|79154|79155|79156|79157|79158|79159|190708|231104|257361|257362|260230|335525|335529|335531|335536|335560|345310|350014|351027|351029|351030|351031|351032|351035|377038|378044|390341|390343|430318|470393|471393|497336|507775|533534|533536|533544|533569|533570|533571|533575|533613|533619|548891|548893|548898|548909|548912|548913|548968|548970|548972|548973|549211|549381|549382|549383|549384|549385|549386|549387|549388|549389|549390|549391|571135|571245|572904|572912|610158|613994|623167|648699|648700|648701|648702|648703|648704|648705|648706|653129|653559|694553|694554|694555|695846|705499|705500|705501|728671|728672|731348|745304|757538|757539|757541|757542|760899|773111|773112|773114|773115|773117|786378|786380|786381|821327|821328|821329|848413|848414|848415|848416|848417|848418|848419|848420|848421|848422|848423|848424|852908|852999|886147|886148|886149|886150|886151|886152|886153|886154|886155|886156|886157|886158|886159|929196|929197|951102|951103|951104|951105|958842|958843|958844|958845|958846|958847|958848|960940|972340|972341|972342|972343|980021|980022", + "text": "Severe combined immunodeficiency due to ADA deficiency" + }, + { + "baseId": "16998|28168|28169|28169|28170|28172|28172|28174|28174|28174|28175|28177|28185|28187|28193|28198|28199|28200|45371|45372|45372|45373|45374|45375|45376|45376|45377|45380|45381|79572|79572|79573|79574|79575|79576|79581|79582|142585|142585|142586|142587|142587|142588|142588|142589|142589|142590|142590|142590|254148|254148|254149|254150|254151|254151|269282|313990|313990|313992|313992|313995|314000|314002|314012|314013|314014|314015|314025|314026|314032|320368|320369|320387|320387|320393|320393|320401|320401|320417|320431|320432|320452|320453|320454|320456|320463|320476|320489|320490|320497|320500|326350|326360|326369|326374|326377|326378|326380|326382|326382|326384|326384|326399|326401|326415|326421|326429|326430|326430|326434|326434|326435|326435|326435|326443|326452|327380|327381|327381|327390|327392|327406|327407|327408|327412|327430|327431|327441|327443|327444|327446|327450|327451|327455|327462|327462|327462|327474|327474|327480|359878|359938|359941|371408|408342|415266|415267|425922|425922|433888|433888|433888|444800|461092|461092|461100|461295|461298|461300|461304|461574|461576|461576|461890|461890|461904|461904|461907|461907|481990|488104|488104|488113|488113|488119|488119|491899|513657|513658|526182|526185|526190|526194|526194|526666|526667|526671|526676|526676|526679|526682|564612|564613|567235|567235|567235|567239|567241|567241|567244|567245|567249|570614|570620|570629|612909|614356|614357|624428|640003|640004|640005|640006|640007|640008|640009|640010|640011|640012|640013|640014|640015|640016|640017|640018|640019|640020|640021|640022|640022|640023|640023|640024|640025|640025|640026|640027|640028|687777|687778|693020|693020|693021|693021|701752|701752|712815|737960|737962|768438|768440|768442|783988|783989|783990|820362|838357|838358|838359|838360|838361|838362|838363|838364|838365|838365|838366|838367|838368|838368|838369|838370|838371|838372|838373|838373|838374|838375|838376|838377|838378|838379|838380|838381|838382|838383|838384|838385|838386|838387|838388|838389|838390|838391|838392|838393|838394|838395|838396|838397|838398|838399|838400|838401|838402|867886|867887|867888|867889|867890|867891|867892|867893|867894|867895|867896|867897|867898|867899|867900|867901|867902|867903|867904|867905|867906|867907|867908|867909|867910|867911|867912|867913|867914|867915|867916|867917|867918|867919|867920|867921|867922|867923|867924|867925|867926|867927|867928|867929|867930|867931|867932|926215|926216|926217|926218|926219|926220|926221|926222|926223|926224|926225|935514|935515|935516|935517|935518|935519|935520|935521|947432|947433|947434|947435|947436|947437|947438|947439|947440|947441|947442|947443|947444|947445|956477|956478|956479|956480|956481|956482|956483|956484|956485|956486|956487|956488|956489|956490|956491|956492|956493|961958|961959|961960|961961|961962", + "text": "Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive" + }, + { + "baseId": "17000|17001|17002|17003|17005|17006|17018|17019", + "text": "Partial adenosine deaminase deficiency" + }, + { + "baseId": "17004|17018|17023|28177|44474|260230|291325|297340|299357|299373|312525|314019|314021|320474|320491|325324|327380|327410|327417|327426|327480|332796|342993|342997|348310|348336|348355|349518|353163|353188|353488|353489|481990|548898|548913|972607|983949", + "text": "Severe Combined Immune Deficiency" + }, + { + "baseId": "17009|44318|44319|44469|44470|44471|44472|44473|44474|44663|44664|45054|45055|45056|45057|45059|45060|45078|45079|45080|45081|45082|45083|45084|45085|45086|45372|45373|45375|45376|45377|45380|45381|45575|79585|363593|390341|434671|487945|497336|549388|590646|974489", + "text": "Severe combined immunodeficiency disease" + }, + { + "baseId": "17011|17021|17022|17023", + "text": "SCID due to ADA deficiency, delayed onset" + }, + { + "baseId": "17012", + "text": "Adenosine deaminase 2 allozyme" + }, + { + "baseId": "17024|17025|190688|190689|190691|190692|190693|190694|190696|190697|190698|190699|190700|190701|190702|191453|192950|237269|237411|237422|254848|254849|254850|265784|265785|267426|268038|268941|270623|271818|273858|319604|319605|319607|319610|319611|319612|319616|319618|319619|319621|319625|319631|319632|319636|319637|319638|319643|319645|319647|319651|319652|319656|319658|319659|319660|319662|319663|319664|319674|319679|319690|319692|319693|319694|319696|319699|319704|319706|319707|319713|319715|319716|319717|319727|319731|319732|319745|319746|319751|319767|328125|328127|328128|328133|328134|328135|328137|328146|328147|328150|328153|328156|328173|328175|328179|328180|328187|328188|328192|328194|328195|328203|328226|328227|328236|328237|328238|328245|328247|328252|328254|328258|328262|328263|328264|328272|328274|328283|328287|328291|328293|328295|334520|334521|334525|334539|334545|334552|334553|334555|334564|334568|334571|334572|334576|334579|334583|334584|334592|334594|334599|334601|334607|334619|334620|334624|334641|334642|334643|334660|334662|334663|334668|334675|334676|334677|334678|334692|334706|334710|334716|334721|334728|334729|334744|336286|336287|336290|336297|336298|336308|336314|336315|336323|336333|336337|336338|336341|336342|336344|336346|336347|336350|336354|336356|336361|336364|336365|336366|336376|336380|336382|336384|336388|336393|336394|336395|336399|336408|336414|336428|336434|336436|336437|336445|336448|336477|336489|336496|336498|336500|429502|489673|492814|513100|513101|539051|584919|613524|620471|620472|688163|688165|688166|688167|688168|688169|693357|693359|693360|693362|693365|693366|693371|693372|739048|739049|753838|871180|871181|871182|871183|871184|871185|871186|871187|871188|871189|871190|871191|871192|871193|871194|871195|871196|871197|871198|871199|871200|871201|871202|871203|871204|871205|871206|871207|871208|871209|871210|871211|871212|871213|871214|871215|871216|871217|871218|871219|871220|871221|871222|871223|871224|871225|871226|871227|871228|871229|871230|871231|871232|871233|871234|871235|871236|871237|871238|871239|871240|871241|871242|871243|871244|871245|871246|871247|871248|871249|871250|871251|871252|871253|871254|871255|871256|871257|871258|871259|871260|871261|871262|871263|871264|871265|871266|871267|871268|871269|871270|871271|871272|871273|871274|871275|871276|871277|871278|871279|871280|871281|871282|871283|871284|871285|872329|872330|872331|872332|872333|872334|904991|904992|904993|904994|904995|971581|971582", + "text": "Fraser syndrome 2" + }, + { + "baseId": "17027|17028|17029|413788", + "text": "BNAR syndrome" + }, + { + "baseId": "17030|17031|17032|133901|133902|196356|214168|214169|214762|271907|291765|293111|293112|296408|367421|367743|368828|393771|393817|406366|452801|453564|519614|536654|559535|563313|620138|622334|622335|622336|685154|686467|764186|764187|781815|819421|819424|819425|828588|828589|828590|828591|828592|828593|828594|851578|851580|923365|923366|932091|932092|932093|943709|943710|943711|943712|943713|943714|943715|943716|953597|953598|953599|953600|953601", + "text": "Joubert syndrome 8" + }, + { + "baseId": "17033|102096|177028|191435|191436|192057|193721|195431|196333|256341|256342|256345|256346|256347|256348|256349|329459|329460|329465|329488|329490|329494|329504|329505|329512|329518|329522|329527|329529|329533|329535|329544|329545|329546|329547|329551|329553|329592|329593|339753|339763|339765|339767|339782|339783|339789|339791|339793|339797|339801|339802|339804|339810|339815|339816|339818|339820|339822|345484|345496|345506|345510|345520|345521|345526|345534|345537|345541|345548|345554|345559|345564|345566|345569|345571|345574|346824|346825|346836|346844|346851|346857|346858|346859|346862|346867|346870|346871|346872|346876|346877|346882|346883|346889|346893|346929|346930|845926|845927|845938|878194|878195|878196|878197|878198|878199|878200|878201|878202|878203|878204|878205|878206|878207|878208|878209|878210|878211|878212|878213|878214|878215|878216|878217|878218|878219|878220|878221|878222|878223|878224|878225|878226|878227|878228|878229|878230|878231|878232|878233|878234|878235|878236|878237|878238|878239|878240|878241|878242|878243|878244|878245|878264|878265|919763", + "text": "Cone-rod dystrophy 5" + }, + { + "baseId": "17034|140169|140170|140171|140172|211799|211802|211806|211807|327514|327518|327519|337350|337355|343627|343629|343635|343639|343640|345122|345129|409847|622915|876908|876909|876910|876911|876912|876913|876914|876915|876916|876917|876918|876919|876920|880479|919713", + "text": "Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1" + }, + { + "baseId": "17035|17036|17037|17038|17039|17040|17041|17042|227397|227398|237010|237321|237368|256414|256415|256416|256417|256418|256420|256423|256426|256427|256428|256429|256430|256431|256437|256439|256440|256441|256446|256447|256450|256451|256453|256454|329958|329959|329966|329968|329975|329978|329990|329994|329997|330000|330002|330014|330017|330022|330024|330026|330027|330028|330032|340221|340227|340231|340233|340235|340240|340241|340243|340245|340247|340260|345957|345963|345964|345968|345976|345977|345985|345987|345988|345992|345995|346003|346005|346008|346009|347296|347299|347301|347303|347307|347308|347309|347310|347311|347312|375709|390239|410246|422202|434394|434457|445900|467475|467476|467479|468333|468340|468846|468851|468852|469093|469095|531771|531778|531780|531782|531789|531852|531855|531894|531897|531903|531904|531908|531913|531914|531915|532152|532155|532157|532164|532166|532168|569747|569748|569752|569753|569755|569756|571594|571597|571598|572249|572251|572257|572261|572262|572267|572272|572274|574615|574616|574617|574618|574619|587269|614444|620607|620608|646697|646698|646699|646700|646701|646702|646703|646704|646705|646706|646707|646708|646709|646710|646711|646712|646713|646714|646715|646716|646717|646718|646719|646720|646721|652844|653031|653364|653516|653518|715712|727448|727449|727450|731180|741045|745082|756134|756135|756137|756138|756140|760670|771841|771842|771844|771845|771846|776734|785747|785748|785749|792809|846200|846201|846202|846203|846204|846205|846206|846207|846208|846209|846210|846211|846212|846213|846214|846215|846216|846217|846218|846219|846220|846221|846222|846223|846224|846225|846226|846227|846228|846229|846230|846231|846232|846233|846234|846235|846236|846237|846238|846239|846240|846241|851755|852909|858755|878498|878499|878500|878501|878502|878503|878504|878505|878506|878507|878508|878509|878510|878511|878512|878513|878514|878515|878518|878519|878520|878521|880591|880592|880593|880594|880595|880596|880597|880598|928533|928534|928535|928536|928537|928538|928539|928540|928541|928542|928543|928544|938223|938224|938225|938226|938227|938228|938229|938230|938231|941198|941199|950290|950291|950292|950293|950294|950295|950296|950297|950298|950299|950300|958313|958314|958315|958316|958317|958318|958319|958320|958321|958322|958323|958324|960245|960246|961977|980485", + "text": "Familial hemophagocytic lymphohistiocytosis 3" + }, + { + "baseId": "17043|17044|17045|17046|17047|17048|98559|98560|98561|98562|98564|117265|135742|178066|187121|192209|194807|194808|195568|205173|228218|254825|254829|254830|265322|265525|266407|266527|267944|268189|269008|269208|269214|269291|269367|269472|269833|270070|270437|272665|273800|274472|274581|275451|319224|319226|327724|327754|327763|334017|335632|335639|335640|353291|372663|462610|462891|463382|463383|490527|492123|492730|527427|527489|527490|527492|527745|527749|528013|539048|546795|546796|546797|546954|546956|546962|546967|546969|547115|547119|547124|547345|547346|567120|567125|568269|608906|641582|641583|641584|641585|641586|641587|652283|652352|652525|652768|679459|681848|693327|693328|787944|794047|799734|802183|820548|820549|840579|840580|840581|840582|840583|840584|840585|852529|852712|926813|936355|936356|948273|948274|948275|957028|957029|957030|957031|957032|957033|966349|979360|979361", + "text": "Severe autosomal recessive muscular dystrophy of childhood - North African type" + }, + { + "baseId": "17049|17050|17051|17052|17053|17054|17055|39717|39718|49167|75116|101652|101653|101654|133771|133772|133773|133774|133775|133776|133777|152870|166163|166164|177234|191418|191827|192032|192679|192931|193197|196042|198627|207325|207326|212518|212519|214230|214231|214232|214233|214234|214235|214236|214237|214238|214239|214240|214241|214242|214243|214244|214245|214246|214247|214248|214249|214250|214251|214252|214253|214254|214255|214256|214257|214258|237019|252116|252123|252128|252130|252135|252139|264200|268659|299154|299162|299166|299167|299169|299170|301557|301558|301560|301562|301563|301567|301569|301576|305939|305942|305954|305955|305965|305969|305977|305978|305980|306211|306213|306214|306217|306228|306240|306247|306248|306258|306262|306281|306283|368348|368357|368862|438708|455967|501165|620215|620216|622883|623142|626308|634642|678064|683761|683762|683764|802159|831586|895420|895421|895422|895423|895424|895425|895426|895427|895428|895429|895430|895431|895432|895433|895434|895435|895436|895437|895438|895439|895440|895441|895442|895443|895444|895445|895446|895447|895448|895449|896193|896194|896195|896196|896197|896198|896199|906245|906283|962050|963595|963596|972788", + "text": "Joubert syndrome 3" + }, + { + "baseId": "17051|181421|181433", + "text": "Typical Joubert syndrome MRI findings" + }, + { + "baseId": "17054|39717|904949|904950|904951", + "text": "Joubert syndrome with ocular defect" + }, + { + "baseId": "17057|17058|17058|17059|443654|513552|626146|904267|904268|906011|961768|961769", + "text": "Neutral 1 amino acid transport defect" + }, + { + "baseId": "17058|17424|918914|961768|961769", + "text": "Iminoglycinuria" + }, + { + "baseId": "17058|17060|17423|17424|19884|290474|290478|290483|290496|290509|290514|290515|290521|290529|290530|290539|290540|290548|290550|290552|290557|290559|290569|290570|290571|290573|290578|290579|290586|291372|291373|291374|291382|291383|291385|291389|291390|291391|291396|291397|291398|291401|291403|291407|291411|291412|291413|291418|291426|291436|291437|291438|291459|291460|291461|291467|294599|294602|294608|294620|294622|294629|294631|294635|294639|294643|294644|294646|294647|294648|294650|294652|294653|294657|294659|294678|294680|294699|294700|294713|294715|294716|295036|295037|295052|295054|295058|295061|295065|295066|295067|295068|295069|295073|295082|295084|295086|295087|295088|295089|583095|612428|620763|620764|888977|888978|888979|888980|888981|888982|888983|888984|888985|888986|888987|888988|888989|888990|888991|888992|888993|888994|888995|888996|888997|888998|888999|889000|889001|889002|889003|889004|889005|889006|889007|889008|889009|889010|889011|889012|889013|889014|889015|889016|889017|889018|889019|889020|889021|889022|889023|889024|889025|889026|889027|889028|889029|889030|889031|889032|889033|889034|889035|889036|891648|891649|961768|961769", + "text": "Hyperglycinuria" + }, + { + "baseId": "17060|17423|19884", + "text": "Iminoglycinuria, digenic" + }, + { + "baseId": 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34974|834975|834976|834977|834978|834979|851207|851698|852142|852144|852146|859681|899879|903554|918296|918297|919163|919164|919165|919166|919167|919168|919169|919170|919171|920256|924913|924914|924915|925239|925240|925241|925242|925243|925244|925245|925246|925247|925248|925249|925250|925251|925252|934002|934003|934372|934373|934374|934375|934376|934377|934378|934379|934380|934381|934382|934383|934384|934385|934386|934387|934388|934389|934390|934391|934392|934393|934394|940110|940111|940909|940910|940911|945766|945767|945768|945769|945770|945771|945772|946137|946138|946139|946140|946141|946142|946143|946144|946145|946146|946147|946148|946149|946150|946151|946152|946153|946154|946155|946156|955219|955220|955221|955469|955470|955471|955472|955473|955474|955475|955476|955477|955478|955479|955480|955481|955482|955483|955484|955485|959866|959867|959897|959898|959899|960655|960656|961611|961955|964303|969282|969780|969782|969785|970883|970884|975664|980509", + "text": "CHARGE association" + }, + { + "baseId": 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+ "text": "Hypogonadotropic hypogonadism 5 with or without anosmia" + }, + { + "baseId": "17069", + "text": "Scoliosis, idiopathic 3" + }, + { + "baseId": "17072", + "text": "Hypogonadotropic hypogonadism 5 without anosmia" + }, + { + "baseId": "17078", + "text": "PPARGC1B polymorphism" + }, + { + "baseId": "17079|17080|17081|17082|17083|17083|251300|251300|291791|291792|291793|291802|291802|291806|293133|296451|296453|296455|296466|354273|561830|631804|651246|685157|686472|781822|819427|828596|828597|828598|828599|889783|889784|889785|889786|889787|889788|889789|889790|889791|889792|891714|932095|932096|943720", + "text": "Bardet-Biedl syndrome 3" + }, + { + "baseId": "17083|17084|251300|291802|561830|631804|651246|685157|686472|781822|819427|828596|828597|828598|828599|932095|932096|943720|965642", + "text": "Retinitis pigmentosa 55" + }, + { + "baseId": "17085|17086|17087|17088|17089|17090|17091|17092|17093|17094|17095|17096|17097|17098|17100|152881|195036|195038|195039|199800|238071|238072|269446|321023|321024|321026|330122|336640|482052|528788|550250|612157|642639|642640|642641|642642|642643|652613|693561|702958|702959|702960|702961|725770|739288|739289|769878|778300|784749|784750|784752|791418|791419|791420|794252|794253|794254|794255|794256|794258|818306|841678|841679|841680|841681|841682|841683|841684|841685|841686|841687|841688|841689|841690|851575|856786|856787|856788|856790|919540|927151|936691|936692|936693|936694|936695|936696|948641|957270|957271|957272|957273|957274|960807|960808|965937|965938|965939|965940|965941|965942|965943|965944|965945", + "text": "Leber congenital amaurosis 13" + }, + { + "baseId": "17086|20264|21608|101737|101744|152872|205170|205460|259747|263389|417109|426811|431556|431656|431661|431735|431744|431769|431774|431785|431831|431834|431839|431849|431852|431877", + "text": "Abnormality of the eye" + }, + { + "baseId": "17086", + "text": "RDH12-Related Disorders" + }, + { + "baseId": "17088|17403|21917|21918|75295|105181|205138|237652|237678|247774|247775|359177|359178|431847|488481|569886|642639|800449|800457|800471|800474|800481|800535|800554|800558|800559|800571|800581|800617|800618|800625|800693|800696|800707|800708", + "text": "Cone-rod degeneration" + }, + { + "baseId": "17099|17100", + "text": "Retinitis pigmentosa 53" + }, + { + "baseId": "17101", + "text": "Diabetes mellitus, insulin-dependent, 5" + }, + { + "baseId": "17102|17103|17104|17105|17109|207420", + "text": "Myoclonic Epilepsy, Juvenile, 1" + }, + { + "baseId": "17102|17103|17104|17106|22647|38421|101782|101782|134010|134011|134012|134407|134408|134409|134409|134410|134410|134411|134411|134412|134413|134414|134414|134415|134416|134417|134417|134418|134418|140354|140358|140359|140895|140895|140896|140896|140897|140898|140899|140899|140900|190285|190889|191506|193645|194994|196048|201269|201270|201851|201972|201973|201975|201977|201978|201979|201979|201980|201981|201982|201984|201988|201989|201991|201991|201993|201993|201995|201996|201997|201997|201998|202003|202003|202005|202005|202007|202008|202008|202009|202010|202011|202012|207419|268415|270295|271613|282202|282203|282204|282210|282211|282215|282225|282228|282238|282249|282262|282263|282264|282265|282273|282275|282285|282287|282291|282292|282867|282873|282884|282889|282890|282897|282908|282909|282910|282911|282912|282915|282916|282937|282940|282941|282942|282946|282949|282954|282983|282984|282985|282986|282987|282988|282989|282994|284475|284478|284479|284480|284481|284482|284486|284491|284492|284493|284498|284501|284503|284519|284520|284781|284799|284801|284803|284815|284818|284819|284822|284851|284852|284875|284876|284882|284883|284884|284885|284889|284892|284893|284898|284904|284921|284923|284924|284925|284930|284934|284935|285431|298623|300707|300708|300713|300714|300719|300721|300722|300723|300734|300738|300739|300751|300752|302845|303045|303061|303064|303627|303628|303629|303632|303633|303635|303651|303652|303659|303660|303670|303671|303672|303675|303677|303678|308173|308174|308174|308180|308182|308199|308201|308210|308222|308225|308226|308231|308233|308236|308237|308238|308239|308240|308241|308242|308245|308250|308251|308252|308253|308263|308267|353540|368987|370496|389791|395192|395194|395421|395552|395557|395841|395842|445828|455651|455654|455845|455849|456246|456250|521697|521700|522042|522046|522051|522071|522073|522392|522396|522399|522407|560748|560750|560752|560755|560761|560880|560881|560888|560890|560896|560897|560903|565718|565718|565738|565747|634982|634983|634984|634985|634986|634987|634988|634989|634990|634991|634992|634993|634994|634995|634996|634997|634998|634999|635000|635001|635002|686900|686901|686902|692012|710557|722069|777747|790532|790533|818378|818381|819699|819700|821936|821937|821938|822261|832037|832038|832039|832040|832041|832042|832043|832044|832045|832046|832047|832048|832049|832050|832051|832052|832053|832054|832055|832056|832057|832058|832059|832060|832061|832062|832063|851078|924380|924381|933357|933358|933359|933360|933361|933362|933363|933364|945065|945066|945067|945068|945069|945070|954500|954501|954502|954503", + "text": "Juvenile myoclonic epilepsy" + }, + { + "baseId": "17103|17106|38421|101782|134407|134408|134409|134410|134411|134412|134414|134417|134418|140895|140896|140897|140898|140899|140900|190889|193645|194994|196048|201972|201977|201978|201979|201981|201984|201988|201991|201993|201995|201996|201997|201998|202003|202005|202007|202008|202011|207419|270295|271613|308174|368987|370496|389791|395194|395421|395552|395557|455845|455849|456250|522042|522046|522071|522073|522407|560752|565718|565738|634983|634992|634994|634996|635000|686900|686901|686902|692012|710557|722069|777747|819699|819700|821936|821937|821938|822261|832037|832038|832039|832040|832041|832042|832043|832044|832045|832046|832047|832048|832049|832050|832051|832052|832053|832054|832055|832056|832057|832058|832059|832060|832061|832062|832063|851078|924380|924381|933357|933358|933359|933360|933361|933362|933363|933364|945065|945066|945067|945068|945069|945070|954500|954501|954502|954503", + "text": "Typical absence seizures" + }, + { + "baseId": "17107|17108|134410|201975|201979|201980|201982|201993|201997|202012|268415|395192|395841|395842|455651|455654|456246|521697|521700|522051|522392|522396|522399|560748|560750|560755|560761|560880|560881|560888|560890|560896|560897|560903|565718|565747|634982|634984|634985|634986|634987|634988|634989|634990|634991|634993|634995|634997|634998|634999|635001|635002", + "text": "Epilepsy, juvenile absence, susceptibility to, 1" + }, + { + "baseId": "17110|17111|17112|17113|17114|17115|17116|39716|75257|143207|260933|264773|264778|427721|439182|439182|622311|627401|683308|789107|789938|789939|858698|861132|861134|861137|921275|969126|969128|970140|971518", + "text": "Leukodystrophy, hypomyelinating, 2" + }, + { + "baseId": "17117|434566|439182|918614", + "text": "Spastic paraplegia 44, autosomal recessive" + }, + { + "baseId": "17118|17119|439182", + "text": "Lymphatic malformation 3" + }, + { + "baseId": "17120|17121|17122|17123|17124|17125|17126|17127|17128|98436|98437|98438|98440|98443|177296|187035|187036|187037|187038|187039|187040|187041|187042|187043|187044|187045|189178|189179|189180|190724|190725|190961|190962|191139|195557|205029|205030|223592|223593|223594|223595|223596|223597|228219|237278|237297|237513|237514|237515|237516|237752|256782|270210|270478|272485|332698|342852|342861|342865|342869|342870|348213|349416|349417|358586|358587|358588|358589|358590|358591|358592|358593|358594|358595|358596|358597|358598|358599|358600|358601|358602|358603|361321|376167|376170|377186|377192|377194|377198|377199|377203|379279|410475|422235|422236|422238|424376|425226|468492|468496|468497|468501|469399|469400|469402|469404|469812|487990|488039|488041|506733|507122|507495|507502|507508|507511|513374|514843|532707|532710|532724|532747|532756|533135|533136|548698|548702|548703|548704|548705|548707|548708|548709|548711|548714|548718|548719|548720|548722|548723|548724|548726|548727|548729|548734|548735|548738|549070|549080|549084|549089|549092|549097|549099|549101|549103|549111|549112|549115|549116|549331|549332|549333|549334|549335|549336|549337|549338|549339|549340|549341|549342|570509|570510|572230|572922|572925|574878|613624|613625|613626|613627|613628|622854|622855|623164|623165|647708|647709|647710|647711|647712|647713|647714|647715|647716|647717|647718|653601|679214|694331|694332|694333|695810|704759|716183|727910|727911|741588|741590|741591|756720|756721|756722|772419|772420|772421|772423|772425|776553|786064|786066|788198|788257|789104|791896|791897|801737|847307|847308|847309|847310|847311|847312|847313|847314|847315|847316|847317|847318|847319|847320|847321|852308|879986|879987|879988|879989|879990|879991|879992|879993|879994|879995|879996|879997|879999|880702|919822|928855|928856|928857|928858|928859|928860|940471|950677|950678|950679|950680|950681|950682|958541|958542|958543|958544|960283|965657|972327|972328|972329|972330|972331|972332|972333|972334|979971|980387", + "text": "Glutaric aciduria, type 1" + }, + { + "baseId": "17129|17130|17131|17132|54005|54006|54007|54008|54009|54010|54011|54012|54013|54014|54015|174084|174085|174088|174089|227308|229594|302579|302580|302584|302586|302600|302608|302610|302614|302616|302617|305960|305962|305963|305966|305967|305968|305981|305986|305987|305989|305990|305993|310680|310682|310683|310689|310690|310692|310709|310710|310715|310961|310962|310963|310964|310976|496491|513971|897923|897924|897925|897926|897927|897928|897929|897930|897931|897932|897933|897934|897935|897936|900350", + "text": "Deafness, autosomal dominant 5" + }, + { + "baseId": "17133|17134|17135|17136|17137|17138|17139|17140|17141|34071|34072|34073|34074|34075|34076|34077|34078|34079|34080|34081|34082|135325|142281|142282|142283|142284|142286|142288|200186|200187|200188|200189|200190|200192|200200|200201|200202|200203|200205|200208|200209|200210|200212|200213|200214|200215|200216|314816|314820|314823|314825|314837|321550|321553|321559|321562|321571|321572|321574|321575|327657|327660|327664|327666|327670|327673|327674|327681|328744|328747|328749|328750|328760|328762|328766|328772|328773|328774|371632|372332|372333|372336|372540|372550|372554|372558|374215|415297|429287|442480|480411|503405|503725|503936|503951|526728|546167|546176|546179|546184|546186|546479|546480|546484|546601|546603|546606|546609|546613|546830|546832|546834|549979|566110|570902|578493|609806|620835|622406|640366|640367|640368|640369|640370|640371|640372|665984|713095|724659|724660|724661|724662|730794|738202|738203|738204|738205|738206|738207|738208|738209|738210|738211|744554|752867|752868|752869|752870|752871|752872|752873|752874|752875|760033|760036|768652|768655|768656|768657|768658|768660|768661|768663|768664|768665|768667|768668|768669|768670|768671|775867|778163|784115|784119|784121|784123|784126|784128|784130|787699|787710|791158|868355|868356|868357|868358|868359|868360|868361|868362|868363|868364|868365|868366|868367|868368|868369|868370|868371|868372|868373|868374|868375|868376|868377|868675|868676|868677|868678|868679|868680|868681|868682|919384|919385|926359|935713|935714|940231|941010|956609|956610|956611|956612|956613|964847|970228", + "text": "Pyruvate carboxylase deficiency" + }, + { + "baseId": "17142|17143|578443|963441|963442|963443", + "text": "Trichothiodystrophy 3, photosensitive" + }, + { + "baseId": "17144", + "text": "Dopamine receptor d2, reduced brain density of" + }, + { + "baseId": "17144|24577", + "text": "ethanol response - Toxicity/ADR" + }, + { + "baseId": "17144|227797|227815", + "text": "clozapine response - Toxicity/ADR" + }, + { + "baseId": "17144", + "text": "bupropion response - Efficacy" + }, + { + "baseId": "17144|227797|227815", + "text": "olanzapine response - Toxicity/ADR" + }, + { + "baseId": "17144|227765|227796|227814|227815", + "text": "antipsychotics response - Toxicity/ADR" + }, + { + "baseId": "17144|227797|227815", + "text": "risperidone response - Toxicity/ADR" + }, + { + "baseId": "17145|17146|17147|241241|241242|241243|241244|241245|241246|398456|398477|398486|398492|398526|398527|398844|398845|398847|398971|418971|425952|434766|461636|461640|461642|461644|461770|461858|462193|462195|462199|462433|462433|462434|462437|526688|526693|526931|527254|527261|527262|565058|565069|565077|566356|566362|567681|567683|571282|571283|588709|611408|611409|640644|640645|640646|640647|640648|652650|684289|684293|684294|684296|684297|684298|684299|684302|684303|684304|687902|695551|702149|724906|738461|784277|784278|784280|789405|820446|822057|839337|839338|839339|839340|839341|839342|839343|839344|852657|926471|926472|935925|935926|935927|947792|947793|956752|956753|961617", + "text": "Transposition of the great arteries, dextro-looped 1" + }, + { + "baseId": "17148|17149|140788|140789|140790|140792|140793|140794|205266|211483|211485|312369|325111|361584|372166|425901|429171|512847|525969|525972|538418|620385|752424|752425|820427|837945|837946|837947|919318|947300|947301", + "text": "Pyruvate dehydrogenase E2 deficiency" + }, + { + "baseId": "17150|17151|17152|17153|17154|17155|17156|17157|17158|39709|142357|142359|142360|142361|142362|142363|142365|142366|142367|142368|142369|171910|211519|211521|211522|211524|211526|211527|211531|211534|266574|270374|270583|270584|270585|313943|313944|313946|313947|313949|313950|313960|313965|313967|313974|313975|313976|313980|320291|320293|320297|320299|320311|320313|320315|320324|320325|320330|320335|320345|326299|326304|326309|326313|326314|326326|326327|326333|326334|326344|326346|327358|327359|327369|327373|327376|327377|408337|482271|620399|759998|867870|867871|867872|867873|867874|867875|867876|867877|867878|867879|867880|867881|867882|867883|867884|867885|919356|919357", + "text": "Pyruvate dehydrogenase E3-binding protein deficiency" + }, + { + "baseId": "17159|17159|195798|208414|208416|208419|208420|486768|552207|625982", + "text": "Pontocerebellar hypoplasia type 2A" + }, + { + "baseId": "17159|169400|169404|169408|169410|169411|169412|169415|169417", + "text": "Olivopontocerebellar hypoplasia" + }, + { + "baseId": "17159|17159|17161|17162|38422|39708|102564|102567|169409|195798|208414|486768|552207", + "text": "Pontocerebellar hypoplasia type 4" + }, + { + "baseId": "17159|17161|178840|195798|208414|919770", + "text": "Pontocerebellar hypoplasia type 5" + }, + { + "baseId": "17159|18235|21235|21826|21979|22501|23434|25099|26019|26767|39058|48983|65676|77012|79451|99015|99447|132972|133661|137296|137449|137941|151908|166525|170145|171866|171866|171867|171874|177103|178415|181164|181417|181418|181423|181431|181440|181447|181456|201030|201142|201184|210519|214881|214882|226497|243988|243988|247055|263250|263257|263279|263302|268582|268631|279874|280440|280550|288723|294012|315393|319879|326608|326850|328175|329767|334331|334553|340102|342025|342289|346923|351979|354286|354287|354288|359349|360812|360923|360957|361137|361150|363728|369878|389111|389112|389113|389158|389163|389193|389194|398391|400086|400370|401909|422187|426097|444151|454760|467355|478363|513945|513949|513958|513961|513984|514013|514032|514109|514137|514213|514282|540880|548618|556790|571602|590046|590093|610521|613534|613536|613536|613537|613537|623671|623782|623783|625828|625988|626420|627663|648728|656512|672009|676961|676968|677265|679688|684936|686553|704290|709709|712134|722118|724494|739622|746128|748554|768844|784007|784152|792733|799162|801082|801084|801105|801167|801257|801768|801769|801770|801771|801772|801773|801774|801775|801776|801777|801778|801779|801780|801781|801782|801783|801784|801785|801786|801787|801788|801789|801790|801791|801792|801793|801794|801795|801796|801797|801798|801799|801800|801801|801802|801803|801804|801805|801806|801807|801808|801809|801810|801811|801812|801813|801814|801815|801816|801817|801818|801819|801820|801821|801822|801823|801824|801825|801826|801827|801828|801829|801830|801831|801832|801833|801834|801835|801836|801837|801838|801839|801840|801841|801842|801843|801844|801845|801846|801847|801848|801849|801850|801851|801852|801853|801854|801855|801856|801857|801858|801859|801860|801861|801862|801863|801864|801865|801866|801867|801868|801869|801870|801871|801872|801873|801874|801875|801876|801877|801878|801879|801880|801881|801882|801883|801884|801885|801886|801887|801888|801889|801890|801891|801892|801893|801894|801895|801896|801897|801898|801899|801900|801901|801902|801903|801904|801905|801906|801907|801908|801909|801910|801911|801912|801913|801914|801915|801916|801917|801918|801919|801920|801921|801922|801923|801924|801925|801926|801927|801928|801929|801930|801931|801932|801933|801934|801935|801936|801937|801938|801939|801940|801941|801942|801943|801944|801945|801946|801947|801948|801949|801950|801951|801952|801953|801954|801955|801956|801957|801958|801959|801960|801961|801962|801963|801964|801965|801966|801967|858271|858513|861144|921245|961911|963085|963086|963087|965446|965462|965560|970283|980554|980659|980683|980731|983725|983747|983851", + "text": "Microcephaly" + }, + { + "baseId": "17159|21235|22745|22745|25040|33995|100016|132609|136147|136149|136150|136151|136152|136153|136155|136156|136158|136159|136161|181399|191375|192361|196242|200983|200986|204050|207089|207711|207713|207717|207719|263284|272060|274730|307964|307965|307970|307972|307974|307975|307981|307986|307987|307989|307990|307992|307993|307997|312309|312311|312323|312326|312327|312337|312339|312341|312342|317994|318001|318004|318005|318006|318007|318020|318033|318035|318047|318559|318563|318566|318569|318574|318586|318591|318598|367600|379257|421712|434634|490210|514137|514138|514213|621017|621018|621020|621021|621024|621025|621026|621027|621031|621033|621035|621036|621037|621038|621039|621040|621041|624841|682313|682315|801165|801225|967144", + "text": "Congenital cerebellar hypoplasia" + }, + { + "baseId": "17159|361099", + "text": "Amblyopia" + }, + { + "baseId": "17159|426751|514138", + "text": "Hypertonia" + }, + { + "baseId": "17159|101293|102069|102562|102563|102564|102565|102566|102567|134470|135541|141452|141453|141454|141455|141456|141457|141458|141459|141461|141462|141463|168082|168086|168087|168088|168089|168093|168095|168096|168097|169402|169406|169409|169410|169413|169414|169415|169416|169604|169605|169607|178107|190930|194562|195429|196096|196098|207036|208414|208418|208624|211268|211274|257208|271314|288534|288539|288541|288543|288544|288548|288549|289283|289300|289302|289306|289307|289308|289309|292259|292260|292265|292271|292275|292276|292280|292282|292283|292284|292295|292313|292407|292408|292410|292415|292416|292428|292432|292437|292438|292439|292441|292454|292457|293243|293268|294605|294606|298111|298127|298225|298237|298240|301220|304351|304355|304359|308980|312824|329821|329822|329823|329827|329829|329832|331247|331250|334276|334279|334281|334283|334296|334297|334309|340123|340125|340134|340135|340148|340152|340154|344219|344221|344223|344227|344228|344231|344233|344234|344236|344239|345840|345843|345844|345845|345846|345849|347220|349358|349361|349362|349365|349366|349369|349370|349373|350378|350379|350382|350383|350386|350387|350390|350391|353314|353454|353521|353522|353613|353798|379665|384448|384449|384450|422199|500014|507174|620101|620647|747946|793702|798920|861668|878419|878420|878421|878422|878423|878424|878425|878426|878427|878428|878429|878430|878431|878432|878433|880577|880578|882476|882477|882478|882479|882480|882481|882482|882483|882484|882485|882486|882487|882488|882489|882490|882491|882492|882493|887820|887821|887822|887823|887824|887825|887826|887827|887828|887829|887830|887831|887832|887833|887834|887835|891558", + "text": "Pontoneocerebellar hypoplasia" + }, + { + "baseId": "17163|169606|208624|791960", + "text": "Pontocerebellar hypoplasia type 2C" + }, + { + "baseId": "17164|168087|168090|168091|168093|168094|168097|178837|178838|178839|207034|207038|486741|486742", + "text": "Pontocerebellar hypoplasia type 2B" + }, + { + "baseId": "17165|177836|191707|193723|194518|195432|272280|312750|312754|312755|312766|312767|312770|312772|312776|312778|312779|312783|312784|312789|312795|312796|312801|312802|318744|318745|318758|318788|318789|318798|318815|318817|318818|318820|318822|318823|318827|324842|324846|324848|324853|324854|324870|324871|324872|324877|324884|324894|324897|325705|325708|325714|325719|325720|325734|325737|325745|325753|325754|325762|325763|325769|325770|325774|325782|488632|620829|701610|800426|802174|802175|838078|867200|867201|867202|867203|867204|867205|867206|867207|867208|867209|867210|867211|867212|867213|867214|867215|867216|867217|867218|868610|868611", + "text": "Late-onset retinal degeneration" + }, + { + "baseId": "17166|17167|17168|17169|17170|177351|251047|289665|289669|289670|290393|290400|290411|290412|290413|293498|293500|293503|293505|293509|293510|293514|294058|294059|294061|294062|294063|367019|452002|500678|538974|608838|608876|608877|608880|609076|609077|622832|631110|720322|730200|748137|827771|888474|888475|888476|888477|888478|888479|888480|888481|888482|888483|888484|888485|891628|920190|943436", + "text": "ALG3-CDG" + }, + { + "baseId": "17171|17172|193740|195035|195440|268322|271392|273967|372461|390052|444827|444828|444830|461367|461371|461375|461698|462023|503666|503840|503846|526283|526285|526288|565862|567322|640130|640131|640132|640133|640134|652329|693054|701785|701786|738010|738011|752697|838542|838543|838544|838545|838546|852355|926263|926264|926265|935591", + "text": "Spondylocheirodysplasia, Ehlers-Danlos syndrome-like" + }, + { + "baseId": "17173|919342|965315|965316|965317", + "text": "Vitamin d hydroxylation-deficient rickets, type 1b" + }, + { + "baseId": "17174|17175|792797", + "text": "Dyslexia 1" + }, + { + "baseId": "17176|17177|194859|194860|287099|287105|287106|287844|290293|290301|290305|290660|290665|290704|622966|885388|885389|885390|885391|885392|885393|885394|885395|887387", + "text": "Premature ovarian failure 6" + }, + { + "baseId": "17178|17179|17180|17181|17182|17183|17185|17186|17187|17188|17189|17190|102224|102225|102226|102227|102228|102229|102230|102231|102233|102235|102236|102237|102238|102242|102243|102246|102249|105808|105809|105810|105812|105813|105814|105815|105816|105817|105818|105819|105820|105821|105822|105823|105824|105825|105826|105827|105828|105829|105831|105832|137044|168298|168299|168300|168301|168302|168303|168305|168306|168307|168308|168309|168310|168311|168312|168313|168314|168315|168316|168317|168318|168319|168320|168321|168322|168323|168324|168325|168326|168327|168328|168329|168330|168331|168332|168333|168334|168336|168337|168338|168339|168340|168341|168342|168343|168344|168345|168346|168347|168348|168349|168350|168351|168352|168353|168354|168356|168357|168359|168360|168361|168362|168363|168364|168365|168367|168368|168369|168370|168371|168372|168373|168374|168375|168376|168377|168378|168379|168380|168381|168382|168383|168384|168385|168386|168387|168389|168390|168391|168392|168393|168394|168395|168396|168397|168398|168399|168400|168401|168402|168403|168404|168405|168406|168407|168408|168409|168410|168411|168412|168414|168416|168417|168418|168419|168421|168422|168423|168426|168427|168429|168430|168435|168436|168437|168438|168439|168440|168441|168442|168443|168444|168445|168446|168447|168448|168450|168451|168453|168454|168455|168456|168457|168458|168459|168460|168461|168462|168463|168464|168465|168466|168468|168469|168470|168471|168473|168474|168475|168476|168478|168479|168480|168482|168483|168484|168485|168486|168487|168488|168490|168491|168492|168493|168494|168495|168496|168497|168498|168499|168500|168501|168502|168503|168504|168505|168506|168507|168508|168509|168510|168511|168512|168513|168514|168515|168516|168517|168518|168519|168520|168522|168523|168525|168526|168527|168528|177608|178372|178373|178374|178375|178376|178377|178378|178379|178381|178383|190922|196341|207214|207215|207216|207217|207218|207220|207221|207222|207223|207224|207225|207226|207227|207228|207229|207231|207232|207233|207234|207236|207237|207238|207239|207240|207241|207242|207243|207247|207248|207250|207251|207252|207254|207255|207256|207257|207258|207259|207260|207261|264212|265061|265985|297425|297426|297434|297447|299486|299488|299494|299501|299520|299524|299526|299528|299530|299534|299535|303645|303649|303650|303653|303654|303657|303674|303710|303711|303949|303958|303963|303964|303975|303986|303995|304003|353895|360869|368481|369876|428418|428419|428420|428421|428423|428426|428428|428429|428430|439808|439877|443787|453890|454421|454996|454998|455005|455007|455168|455170|455178|455179|455181|455189|455620|455625|455629|455875|455877|491797|511597|513817|513818|513819|520593|521185|521187|521193|521201|521451|521794|521795|536158|536692|549466|550599|560321|560323|560325|560327|560454|560456|562298|576816|579073|579157|610517|622351|624150|625869|633947|633948|633949|633950|633951|633952|633953|633954|651347|651349|654126|679747|682844|691855|691857|695292|699078|709903|765112|782285|790554|790555|790556|790557|805440|819589|830848|830849|830850|830851|830852|830853|830854|830855|830856|830857|830858|852213|857672|894201|894202|894203|894204|894205|894206|894207|894208|894209|894210|894211|894212|894213|894214|894215|894216|894217|894218|896097|896098|896099|903536|918955|918957|918958|918959|918960|918961|918962|924070|924071|924072|932910|932911|932912|940816|944622|944623|944624|944625|944626|944627|954173|961276|964255|964256|964257|969776|970805|970806|970807|976650|977214|977242|980920", + "text": "Cornelia de Lange syndrome 1" + }, + { + "baseId": "17191|17191|17193|17193|17195|17196|17197|101774|101776|192498|194477|265813|267825|269777|271334|271603|271603|272010|272698|347065|446353|489599|489816|491813|492858|494182|575212|584856|584967|586318|588541|821398|849023|849024|849025|849026|849027|939187|939188|939189|939190|941272|951322|951323|951324|951325|951326|951327|951328|959016|959017|959018|959019|959020", + "text": "Peroxisome biogenesis disorder 7B" + }, + { + "baseId": "17191|17193|19209|21809|21813|22555|22558|22559|22813|23161|28743|98683|98685|98687|98689|98690|98697|99009|143213|177943|177944|186750|186751|186752|186753|186755|186758|190969|191328|191329|193558|195684|195870|214063|226048|237362|252357|252359|252360|252362|259881|266214|266215|267043|267618|269776|271125|271218|271736|273218|273977|274317|281791|300203|307373|307376|307381|307590|307592|307593|320695|320708|357074|357606|357620|357627|358425|358427|439298|442785|485898|487075|487137|487200|487227|488062|489029|489213|489234|490120|490260|490272|490638|491019|491046|492179|492365|492366|492367|492387|493070|493770|493841|493948|493986|494209|539070|543634|543636|543958|543959|543960|543962|544083|544091|544108|544643|544760|548344|548348|549610|552151|560857|560860|563613|563615|564500|584468|584911|585437|585627|586251|586617|587376|587440|587441|588204|589223|621279|621562|621749|621781|634931|634932|634933|634934|636452|654449|699596|701770|710522|730769|735667|735669|735670|750073|750074|750076|760021|765685|765687|765693|765694|765696|775094|775096|775193|782539|782542|782543|782544|782548|782549|784006|784007|819690|819691|819692|831971|831972|831973|831974|831975|831976|831977|831978|831979|831980|831981|831982|838449|838450|838451|838452|838453|838454|838455|852277|896310|917016|917017|917314|917461|924360|924361|924362|924363|933340|933341|933342|933343|933344|935551|935552|935553|935554|940039|940844|945038|945039|945040|945041|945042|945043|947462|947463|947464|947465|947466|954462|954463|954464|954465|954466|954467|954468|954469|954470|954471|954472|956501|956502|959807|960585|969159", + "text": "Peroxisome biogenesis disorders, Zellweger syndrome spectrum" + }, + { + "baseId": "17191|17192|17193|17193|17194|17195|17196|17197|17198|101774|101774|101776|101776|177937|192498|192498|194477|194477|265813|265813|267825|269777|269777|271334|271334|271603|271603|272010|272010|272698|272698|337464|337466|337492|337498|337499|337503|337510|337513|337515|337520|337522|337523|337530|337538|347062|347064|347065|347065|347066|347070|347071|347074|347075|347076|347077|347080|347081|347082|347085|347091|347095|347096|347108|347114|351111|351112|351115|351118|351122|351123|351126|351127|351130|351131|351133|351134|351137|351138|351140|351142|351144|351147|352135|352136|352137|352138|352139|352140|352141|352142|352143|352144|352145|352148|352149|352150|352151|352152|352153|352154|362314|446353|489599|489599|489816|491813|492858|494182|575212|584856|584856|584967|586318|588065|588276|588541|588541|821398|849023|849024|849025|849026|849027|887213|887214|887215|887216|890849|890850|890851|890852|890853|890854|890855|890856|890857|890858|890859|890860|890861|890862|890863|890864|890865|890866|890867|890868|890869|890870|890871|890872|890873|890874|890875|890876|890877|890878|890879|890880|891805|939187|939188|939189|939190|941272|951322|951323|951324|951325|951326|951327|951328|959016|959017|959018|959019|959020", + "text": "Peroxisome biogenesis disorder 7A" + }, + { + "baseId": "17200|17201|17202|17203|17203|17204|17204|17204|17205|75263|102570|102578|102581|102581|133838|133839|133839|133840|133840|150228|150231|150233|191740|191968|191968|192166|192166|192704|192704|192795|192866|192867|194563|194564|194564|195068|213817|230189|254117|254125|254126|264605|264605|265545|265695|266391|266402|266417|266437|266552|266631|266634|266733|266733|266734|266734|267080|267436|267746|267983|268176|268204|269056|269308|269436|269458|269559|269575|269711|269789|269865|269906|269924|269979|270179|270428|270687|270687|270704|270711|272667|272754|273090|273182|273400|273464|273889|274566|274780|313663|319863|319881|327003|327012|360929|371340|372129|408319|408321|408322|425917|425919|429236|430997|444776|444777|444778|460424|460961|461065|461071|461074|461086|461091|461095|461379|461383|461385|461388|461388|461392|461394|461403|461406|461413|461417|461771|461774|461775|488826|489642|490435|492080|492529|493161|493392|493833|495273|526031|526102|526183|526193|526195|526537|526538|539033|564541|564542|564546|565007|565018|565605|565609|565610|565617|565621|567135|567145|569945|570455|570456|570463|585089|585974|588717|589608|608959|622896|639877|639878|639879|639880|639881|639882|639883|639884|639885|639886|639887|639888|639889|639890|639891|677236|692982|695504|752620|752622|768394|768395|791125|791126|792781|820348|820349|820350|820351|820352|838201|838202|838203|838204|838205|838206|838207|838208|838209|838210|838211|838212|838213|838214|838215|838216|838217|838218|838219|838220|838221|838222|851837|852340|919351|919352|920298|926174|926175|926176|926177|935458|935459|935460|935461|935462|935463|935464|940993|947386|947387|956447|956448", + "text": "Gnathodiaphyseal dysplasia" + }, + { + "baseId": "17202|17202|17203|17203|17204|17204|17204|17205|17205|47882|47883|48349|102570|102578|102578|102581|102581|102581|133838|133839|133840|150228|150231|150233|191740|191740|191968|191968|191968|192166|192704|192795|192866|192867|194563|194563|194564|195068|213817|213817|213818|226474|230189|254117|254125|254126|264605|264605|265545|265695|266391|266402|266417|266437|266552|266631|266631|266634|266733|266734|267080|267436|267746|267983|268176|268204|269056|269308|269436|269458|269559|269575|269711|269789|269865|269906|269924|269979|270179|270179|270428|270428|270687|270704|270711|272667|272754|273069|273090|273182|273400|273464|273889|274566|274780|313663|319881|327003|327012|371340|372129|408319|408321|408322|425917|425919|429236|440222|444776|444777|444778|460424|460961|461062|461065|461071|461074|461086|461091|461095|461379|461383|461385|461388|461388|461392|461394|461403|461406|461413|461417|461771|461774|461775|488826|489642|490435|492080|492529|493161|493392|493833|494011|495273|526031|526102|526183|526193|526195|526537|526538|539033|539472|539975|564541|564542|564546|565007|565018|565605|565609|565610|565617|565621|567135|567145|569945|570455|570456|570463|585089|585974|588717|589608|608959|610424|622896|622896|639877|639878|639879|639880|639881|639882|639883|639884|639885|639886|639887|639888|639889|639890|639891|677236|681855|681859|692982|695504|752620|752622|768394|768395|802176|802177|820348|820349|820350|820351|820352|838201|838202|838203|838204|838205|838206|838207|838208|838209|838210|838211|838212|838213|838214|838215|838216|838217|838218|838219|838220|838221|838222|851837|852340|926174|926175|926176|926177|935458|935459|935460|935461|935462|935463|935464|940993|947386|947387|956447|956448", + "text": "Limb-girdle muscular dystrophy, type 2L" + }, + { + "baseId": "17202|17203|17204|17205|48349|102581|191968|194563|264605|266631|425917|444778|461388|539033|610424|964846", + "text": "Miyoshi muscular dystrophy 3" + }, + { + "baseId": "17203|19066|20958|22321|22389|23085|23093|24609|24653|32584|32660|38596|56569|172652|172813|175617|189619|198685|199454|200340|206724|206924|206928|206954|208086|208584|208585|208586|208588|208589|208592|208723|208725|208726|270687|354302|360803|360829|360855|360929|360953|360956|361026|361045|361046|361052|361093|446892|513912|514049|514128|514175|623605|623606|625198|676966|677218|677235|677236|677240|677266|677273|788956|792691|801221|822323|857409|857415|969267|969268|972892|980758", + "text": "Myopathy" + }, + { + "baseId": "17203|513970|514056", + "text": "Achilles tendon contracture" + }, + { + "baseId": "17203|19239|23318|23320|23322|23325|23326|98887|226138|270687|272349|275546|275548|275551|353883|360414|417651|417654|439919|439925|439928|501808|514010|514056|514095|514132|514135|514181|551401|551432|682500|961601|969272|980755|980756", + "text": "Elevated serum creatine phosphokinase" + }, + { + "baseId": "17203|198685|198685|360933|360934|361020|514056|514181|682738|801539", + "text": "Lower limb muscle weakness" + }, + { + "baseId": "17203|28028|39430|514056", + "text": "Lower limb amyotrophy" + }, + { + "baseId": "17203|17204|192165|192866|266631|269575|620832", + "text": "ANO5-Related Disorders" + }, + { + "baseId": "17206|17207|17208|101373|252048|298566|298570|298576|298578|298582|298583|298584|298588|298598|298601|298608|298609|298624|298627|300890|300893|300895|300900|300932|300935|300936|300944|300954|300972|300981|300986|300987|300993|300995|300996|301023|301024|305277|305284|305286|305297|305298|305316|305329|305346|305347|305370|305372|305373|305408|305410|305412|305413|305414|305415|305419|305433|305483|305485|305486|305487|305492|305493|305494|305496|305499|305512|305514|305515|305516|305523|305530|305537|305541|305542|305547|305550|305561|305564|305577|305578|305585|305589|305591|513061|895102|895103|895104|895105|895106|895107|895108|895109|895110|895111|895112|895113|895114|895115|895116|895117|895118|895119|895120|895121|895122|895123|895124|895125|895126|895127|895128|895129|895130|895131|895132|895133|895134|895135|895136|895137|895138|895139|895140|895141|895142|895143|895144|895145|895146|895147|895148|895149|895150|896172|896173|896174|918989|980326", + "text": "Polycystic liver disease 2" + }, + { + "baseId": "17211|17212|17213|17214|17215|17216|17217|17218|17219|17220|17221|17222|17223|17224|89137|226925|313015|313016|313020|313023|313024|313025|313031|313034|313039|313050|313051|313058|313060|313067|313068|313069|313071|313072|313074|319013|319017|319021|319024|319034|319036|319039|319045|319049|319053|319054|319077|319079|319089|319090|319098|319111|319112|319115|319118|319123|319126|319128|319131|325198|325200|325202|325203|325204|325205|325220|325224|325239|325243|325246|325248|325249|326046|326055|326057|326058|326061|326068|326074|326075|326079|326080|326083|326084|326085|326087|326090|326091|552150|583110|620388|620389|620390|620391|724280|737835|752511|858563|867428|867429|867430|867431|867432|867433|867434|867435|867436|867437|867438|867439|867440|867441|867442|867443|867444|867445|867446|867447|867448|867449|867450|867451|867452|867453|867454|867455|867456|867457|868613|868614|963157|963158|983808|983809|983811|983812|983813|983814|983815|983818|983825|983826", + "text": "Gaze palsy, familial horizontal, with progressive scoliosis 1" + }, + { + "baseId": "17225|208410|248751|429999|445851|467193|468141|468148|468532|468742|468745|468749|468755|508888|530535|531443|531559|531561|531673|531675|531682|531683|531694|531893|531895|531896|531900|531901|569466|569467|569468|569474|569475|571429|571433|571434|571972|571979|571981|571994|571996|574562|574563|574564|574565|646378|646379|646380|646381|646382|646383|652831|694140|695763|704281|715618|715619|727340|756019|756021|771714|771716|789385|845836|845837|845838|845839|845840|845841|845842|845843|845844|845845|845846|928431|928432|928433|928434|928435|928436|928437|938109|938110|938111|938112|938113|938114|938115|938116|941192|950129|950130|950131|950132|950133|958232|958233|958234|958235|958236|960231", + "text": "Polyhydramnios, megalencephaly, and symptomatic epilepsy" + }, + { + "baseId": "17226|17227|17228|17229|17230|47854|47855|47856|47857|47858|47859|47860|47861|47862|47863|47864|47865|47866|47867|47868|47869|47870|47871|47872|47873|47874|47875|47876|47877|47878|47879|47880|47881|177662|177663|177664|177666|191114|206572|251427|251428|292967|292968|292978|292980|292981|292982|292993|292995|292996|293003|293008|293009|293012|293015|293018|293022|293032|293034|293040|294375|294393|294398|294407|294411|294415|294416|294417|294418|294421|294424|294425|294426|294429|294432|294433|294435|294439|294445|294448|297815|297824|297840|297842|297854|297855|297856|297857|297866|297867|297868|297869|297870|297871|297882|297883|297885|297889|297890|297891|297892|297894|297898|297899|297903|297908|297909|297913|297916|297920|297929|297941|297942|297955|297956|297961|297962|297969|297970|297973|297990|359278|486367|488711|624031|709273|790462|800495|800496|890529|890530|890531|890532|890533|890534|890535|890536|890537|890538|890539|890540|890541|890542|890543|890544|890545|890546|890547|890548|890549|890550|890551|890552|890553|890554|890555|890556|890557|890558|890559|890560|890561|890562|890563|890564|890565|890566|890567|890568|890569|890570|890571|890572|890573|890574|890575|890576|891778|891779|891780|918246", + "text": "Bietti crystalline corneoretinal dystrophy" + }, + { + "baseId": "17231", + "text": "Asthma-related traits, susceptibility to, 2" + }, + { + "baseId": "17232|17233|87970|102447|102448|152884|227315|227316|227317|260789|267740|303772|303780|303781|303787|303788|303794|303795|303797|303798|303800|303804|303812|303814|303817|303818|303820|303821|303822|303826|303827|303829|303830|303835|303836|303837|303841|303844|303845|303854|303855|303863|303865|303866|303868|303870|303879|303884|303886|303890|303895|303896|303903|303904|303907|303908|303911|303912|303914|303918|303920|303921|303923|303927|303934|303943|303944|303945|303947|307271|307273|307277|307278|307279|307291|307295|307296|307297|307316|307317|307318|307331|307332|307336|307340|307345|307346|307347|307350|307351|307352|307358|307359|307360|307362|307365|307371|307372|307378|307382|307384|307385|307387|307388|307389|307390|307391|307393|307394|307396|307398|307399|307400|307405|307408|307415|307427|307429|307430|307431|307433|307434|307442|307446|307447|307448|307458|307464|307479|307481|307482|307483|307484|312129|312130|312133|312135|312139|312140|312143|312150|312151|312156|312161|312166|312170|312177|312179|312180|312181|312196|312200|312214|312221|312222|312233|312235|312239|312241|312243|312245|312247|312251|312254|312260|312261|312266|312269|312270|312271|312273|312274|312283|312285|312287|312288|312289|312291|312296|312298|312301|312302|312304|312312|312313|312315|312316|312317|312319|312320|312321|312322|312328|312331|312335|312336|312349|312351|312354|312356|312357|312360|312363|312366|312367|312368|312371|312379|312381|312383|312385|312386|312390|312393|312399|312406|312408|312410|312413|312414|312415|312416|312418|312423|312427|312433|312435|312440|312441|312442|312444|312445|312446|312447|312448|312450|312451|312452|312456|312457|312458|312462|312463|312467|312469|312474|312478|312479|312482|312484|312488|312490|312491|312492|312494|312497|312501|312504|312513|312514|312518|312520|312523|312535|312538|312542|361319|361489|413764|413765|413767|413769|438379|486430|486431|486434|486435|490785|513293|612800|612804|619921|620283|620284|620285|620286|711228|736394|790770|790771|790772|859642|898609|898610|898611|898612|898613|898614|898615|898616|898617|898618|898619|898620|898621|898622|898623|898624|898625|898626|898627|898628|898629|898630|898631|898632|898633|898634|898635|898636|898637|898638|898639|898640|898641|898642|898643|898644|898645|898646|898647|898648|898649|898650|898651|898652|898653|898654|898655|898656|898657|898658|898659|898660|898661|898662|898663|898664|898665|898666|898667|898668|898669|898670|898671|898672|898673|898674|898675|898676|898677|898678|898679|898680|898681|898682|898683|898684|898685|898686|898687|898688|898689|898690|898691|898692|898693|898694|898695|898696|898697|898698|898699|898700|898701|898702|898703|898704|898705|898706|898707|898708|898709|898710|898711|898712|898713|898714|898715|898716|898717|898718|898719|898720|898721|898722|898723|898724|898725|898726|898727|898728|898729|898730|898731|898732|898733|898734|898735|898736|898737|898738|898739|898740|898741|898742|898743|898744|898745|898746|898747|898748|953335|980929", + "text": "Occult macular dystrophy" + }, + { + "baseId": "17232|59496|513293|612797|816398|816399|816400|919131|919132|919133|919134", + "text": "Retinitis pigmentosa 88" + }, + { + "baseId": "17234|97553", + "text": "Deafness, autosomal dominant 28" + }, + { + "baseId": "17235|17236|17237|17238|17239|53211|53212|53213|53214|53217|53218|53219|53220|53223|53224|53225|53226|53227|53228|53229|53230|53231|53233|53234|53235|53236|53237|53238|53239|53240|53241|53243|53244|53246|53247|53249|176036|176037|176039|176043|176046|176049|176052|176053|176058|176062|176182|176183|176190|176191|176193|176198|176199|176203|176204|176205|199809|231050|231053|231055|231062|231067|231068|231071|231073|231075|270993|271198|271836|334107|334109|334112|334115|334116|334118|334130|334134|334140|334142|334145|334157|334159|334161|334166|334168|334172|344014|344015|344017|344020|344022|344024|344026|344028|344030|344030|344032|344033|344036|344039|344047|344050|349269|349270|349271|349272|349275|349278|349282|349285|349287|349289|349290|349293|349294|349297|350249|350252|350253|350259|350260|350263|350264|350268|350271|350272|350274|350277|350279|350284|350285|350288|350291|350292|350296|497322|497779|536994|578570|614516|620913|622469|624869|625878|742078|745258|786259|793803|800150|861598|882335|882336|882337|882338|882339|882340|882341|882342|882343|882344|882345|882346|882347|882348|882349|882350|882351|882352|882353|882354|882355|882356|882357|882358|882359|882360|882361|882362|882363|882364|882365|882366|882367|882368|882369|882370|882371|882372|882373|882374|882375|882376|882377|882378|882379|882380|882381|882382|882383|882384|882385|882386|882387|882388|882389|882390|882391|882392|882393|882394|882395|882396|882397|882398|882399|882400|882401|882919|882920|882921|882922|961349", + "text": "Deafness, autosomal dominant 4" + }, + { + "baseId": "17240|17241|17242|17243|94426|94427|94428|190560|192502|192503|192855|194998|221061|255429|255431|255432|255435|255437|255438|255440|273438|323584|323587|323591|323594|323596|323600|333314|333316|333322|333327|340094|340095|340098|340102|340109|340110|340114|341541|341543|341550|341552|341554|429751|491044|491452|492181|493464|493758|513106|514682|578522|582601|615892|623160|623179|682127|703427|776113|874324|874325|874326|874327|874328|874329|874330|874331|874332|874333|874334|874335|876593|876594|876595|876596", + "text": "Arthrogryposis, renal dysfunction, and cholestasis 1" + }, + { + "baseId": "17244", + "text": "MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO" + }, + { + "baseId": "17244|102101|102102|102103|102104|106473|106474|106477|177769|196397|196398|214519|277759|277784|277788|277789|277791|277820|277821|277822|277845|277846|277847|277849|277851|277856|277858|277878|277879|277880|277881|277882|277883|277884|277885|277887|277888|277889|277901|277902|277904|277909|277911|277918|277919|277921|277922|277923|277924|277925|277926|277928|277932|277933|277934|277935|277936|277937|277941|277943|277944|277950|277951|277954|277955|277956|277957|277958|277959|277961|277962|277963|277964|277965|277967|277968|277969|277970|277971|277972|277974|277976|277977|277978|277979|277980|277981|277982|277983|277985|277988|277990|277991|277992|277993|277996|277999|278000|278006|278007|278017|278018|278020|278021|278022|278023|278024|278025|278026|278028|278029|278030|278034|278036|278039|278040|278041|278042|278043|278044|278045|278046|278047|278048|278050|278051|278053|278054|278057|278058|278060|278062|278063|278064|278070|278072|278073|278818|278825|278826|278835|278837|278842|278850|278851|278853|278854|278856|278859|278860|278861|278864|278866|278868|278869|278883|278898|278899|278900|278901|278902|278905|278906|278907|278921|278924|278925|278926|278927|278934|278935|278938|278941|278942|278946|278952|278955|278956|278957|278963|278968|278973|278974|278975|278976|278978|278981|278982|278983|278984|278985|278986|278992|278993|278996|279000|279001|279002|279003|279006|279007|279008|279009|279010|279019|279027|279028|279043|279046|279047|279056|279059|279062|279069|279081|279082|279083|279089|279096|279097|279105|279118|279119|279121|279122|279133|279134|279136|279140|279141|279157|279158|279162|279163|279167|279214|279215|279216|279230|279238|279239|513499|619974|619975|696314|696315|696316|706929|706931|706932|706935|718435|718436|718440|718441|731914|731918|745903|758844|786984|862953|862954|862955|862956|862957|862958|862959|862960|862961|862962|862963|862964|862965|862966|862967|862968|862969|862970|862971|862972|862973|862974|862975|862976|862977|862978|862979|862980|862981|862982|862983|862984|862985|862986|862987|862988|862989|862990|862991|862992|862993|862994|862995|862996|862997|862998|862999|863000|863001|863002|863003|863004|863005|863006|863007|863008|863009|863010|863011|863012|863013|863014|863015|863016|863017|863018|863019|863020|863021|863022|863023|863024|863025|863026|863027|863028|863029|863030|863031|863032|863033|863034|863035|863036|863037|863038|863039|863040|863041|863042|863043|863044|863045|863046|863047|863048|863049|863050|863051|863052|863053|863054|863055|863056|863057|863058|863059|863060|863061|863062|863063|865047|865048|865049|865050|865051|865052|865053|865054|865055|865056|865057|865058|865059|865060|865061|865062|865063|865064|865065|865066", + "text": "Age-related macular degeneration 1" + }, + { + "baseId": "17245|17251|227783|325116|325118|334771|341254|679794|714884|875107|875108|875109|875110|875111|875112|875113|875114|875115|875116|875117|875118|875119|876653", + "text": "Vitamin K-dependent clotting factors, combined deficiency of, 2" + }, + { + "baseId": "17246|17247|17248|17249|17250|17251|23447|23448|23449|32008|32012|32887|32903|38302|75246|133867|133869|133871|133874|176160|250533|611348|611349|611350|679794", + "text": "Warfarin response" + }, + { + "baseId": "17251|23447|23448|38302|227760|227769|227772|227774|227781|227782|227783|227784|227785|227786|227787|227800|362496|362502|538602", + "text": "warfarin response - Dosage" + }, + { + "baseId": "17252|102117|102118|102119|132658|177417|192550|213192|213193|222488|222489|255741|255742|266590|325333|325334|325335|325338|325342|325346|325354|334963|334969|334972|334973|334978|334981|334984|334990|334992|334995|334996|334999|335020|335021|335027|335030|335031|341455|341456|341459|341462|341465|341466|341472|341474|341475|341477|341478|341480|341482|341484|341486|341487|342953|342954|342955|342958|342959|342962|342965|342971|342972|342974|342978|342980|342981|342983|342985|843872|875259|875260|875261|875262|875263|875264|875265|875266|875267|875268|875269|875270|875271|875272|875273|875274|875275|875276|875277|875278|875279|875280|875281|875282|875283|875284|875285|875286|875287|875288|875289|876668|876669", + "text": "Nephronophthisis 7" + }, + { + "baseId": 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+ "text": "Von Hippel-Lindau syndrome" + }, + { + "baseId": 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+ "text": "Renal cell carcinoma, papillary, 1" + }, + { + "baseId": 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+ "text": "Erythrocytosis, familial, 2" + }, + { + "baseId": "17256|32544|32545|32546|32547|32548|32549|32550|32551|32552|32553|32554|134164|134165|134166|134167|134169|134170|134171|134174|134175|134176|191271|191585|196053|196316|196317|207744|253776|253778|253781|253783|253788|264430|269344|272147|274181|359962|404787|407859|407860|421793|425878|429068|441375|459902|459905|459907|459910|459912|459917|460078|460080|460084|460331|460334|460339|460342|460348|460350|460354|460757|460765|460766|460774|460778|488721|489165|490064|513998|525181|525183|525352|525357|525476|525659|525661|538412|538413|563787|563789|563790|563792|564599|564601|566313|566314|566318|566325|566326|566331|566339|569671|569673|569675|576137|612481|612482|638951|638952|638953|638954|638955|638956|638957|638958|638959|638960|638961|638962|638963|638964|638965|638966|638967|651966|652002|652104|652138|692853|692854|692856|692857|692859|692860|692861|692862|695480|701366|737511|737512|752120|767772|778085|783615|790963|836918|836919|836920|836921|836922|836923|836924|836925|836926|836927|836928|836929|836930|836931|836932|836933|836934|836935|836936|836937|836938|836939|836940|852257|852546|925818|925819|925820|925821|925822|925823|925824|925825|925826|925827|925828|925829|935059|935060|935061|935062|935063|935064|935065|935066|946923|946924|946925|946926|946927|946928|946929|946930|946931|946932|946933|946934|956078", + "text": "Familial infantile myasthenia" + }, + { + "baseId": "17257|52768|138162|235483|247653|327448|358732|406075|451864|467353|512896|530769|551810|558728", + "text": "Renal cell carcinoma, nonpapillary" + }, + { + "baseId": "17270", + "text": "Renal cell carcinoma with paraneoplastic erythrocytosis" + }, + { + "baseId": "17271", + "text": "Acute leukemia of ambiguous lineage" + }, + { + "baseId": "17272|22494|22868|27386|27395|27404|27405|27413|27612|27614|27645|28117|28129|28691|28918|28924|28928|28948|28970|29000|29003|29005|29008|29010|30972|30973|48834|48858|50062|50063|52763|53970|53979|132320|151829|170209|174042|180313|182676|183040|186283|206650|206652|362755|362943|362944|362945|362946|363067|363068|363069|363070|363071|363072|363073|363074|363075|363076|363077|363078|363079|363080|363081|363101|363115|363117|363118|363133|363136|363137|363138|363139|363140|363141|363142|363143|363144|363145|363146|363147|363148|363149|363150|363151|363152|363153|363170|363171|363172|363173|363175|363176|363177|363178|363179|363180|363181|363182|363183|363184|363185|363186|363187|363188|363189|363197|363198|363199|363200|363201|363202|363213|363214|363216|363217|363218|551405|551406|567807", + "text": "Neoplasm" + }, + { + "baseId": "17272|29000|32615|32627|97610|185444|313895|313897|313901|313913|313932|320206|320208|320209|320216|320220|320227|320232|320235|320282|320286|320288|320289|326279|326280|326283|326285|326288|326290|326296|327287|327288|327326|327346|327353|398614|432376|432389|432396|432403|432420|961568", + "text": "Nephroblastoma" + }, + { + "baseId": "17278|17280|17281|17282|17283|17284|17285|17286|17287|79377|79378|79379|79380|79382|79383|79384|79385|79386|79387|79388|79389|194829|249581|249582|249583|265448|265556|271388|277753|277754|277757|277758|277859|277860|277861|277863|277869|277870|278804|278806|278807|278813|278814|278865|278882|278897|364643|447325|447538|447556|489335|514875|515321|515346|515402|515403|556710|556712|556714|556759|556761|557066|557068|620710|627146|627147|627148|627149|627150|627151|627152|627153|627154|627155|627156|627157|627158|627159|627160|650697|706920|718429|731913|745889|745891|745892|745894|745896|761388|761389|761390|761391|761392|818876|823046|823047|823048|823049|823050|823051|823052|823053|850746|850941|850943|851255|862944|862945|862946|862947|862948|862949|862950|862951|862952|921765|921766|921767|930181|930182|930183|930184|940612|941594|941595|959533|961923", + "text": "Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2" + }, + { + "baseId": "17288|17289|17290|17291|17292|17293|17294|415113|614314|624360|961954", + "text": "Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1" + }, + { + "baseId": "17295|17297|17298|17299|17300|17301|17302|17303|17304|17305|17306|79102|247122|255945|255946|268891|270031|273728|409771|445656|466099|466880|467155|467157|530378|530680|530689|530907|530909|530913|548610|568452|570585|574198|589145|610427|610428|645104|645105|645106|645107|645108|645109|645110|645111|645112|645113|645114|652489|652595|652771|653073|731106|740441|740442|771138|771141|771142|771143|771144|771145|771146|771147|771148|771149|776406|820907|820908|820909|844464|844465|844466|844467|844468|844469|844470|844471|844472|851685|927999|928000|928001|937653|937654|937655|941151|949622|949623|957910|957911|957912|960183|960184|960858", + "text": "Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative" + }, + { + "baseId": "17299|17304|38924|38925|39150|79102|224721|255945|255946|268891|277749|277751|277752|277850|277853|277857|277875|278841|278843|278845|409771|422469|445656|467157|470778|530378|574198|645105|645106|645107|645108|645111|652595|729577|729578|731106|740441|740442|771141|771144|771146|776406|785412|844465|844466|844469|844470|844471|850027|979811|979812|979813|979814|979815|979816|979817|979818|980101|980102|980103|980104|980105|980106|980107", + "text": "Chronic granulomatous disease" + }, + { + "baseId": "17302", + "text": "CYBA POLYMORPHISM" + }, + { + "baseId": "17302|590651", + "text": "Very early onset inflammatory bowel disease" + }, + { + "baseId": "17307|17308|17308|17309|17310|17311|17312|17313|17314|17315|17316|17317|17319|17319|17320|17320|17321|39692|39695|165484|196292|198602|213787|213788|213789|213790|213791|244137|244147|244148|244149|244150|244188|439809|513488|513489|556900|624971|789828|789829|789830|789831|789834|789835|921527|966391|977168", + "text": "Charcot-Marie-Tooth disease, type 2A2A" + }, + { + "baseId": "17308|17319|17319|17320|39691|39693|39694|39695|244148|439809|539959|540436|540437|578360|798912", + "text": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B" + }, + { + "baseId": "17308|17315|17316|17317|17318|17319|17320|17320|17321|39695|141913|141914|141915|141917|141918|141920|141921|141922|141923|190878|191572|196028|196292|210581|210582|210589|210590|210597|210602|210603|210605|212071|221079|238137|244186|276217|276218|276219|276220|276223|276224|276238|276239|276240|276245|276253|276260|276268|276269|276473|276475|276482|276485|276487|276488|276860|276879|276884|276885|276886|276889|276898|276899|276903|276905|276906|276907|276908|276951|276952|276953|276954|276965|276969|276970|276977|276978|276992|277008|277039|359204|364342|364422|430974|439809|481414|497999|515038|862127|862128|862129|862130|862131|862132|862133|862134|862135|862136|862137|862138|862139|862140|862141|862142|862143|862144|862145|862146|862147|862148|864970|864971|864972|918549", + "text": "Hereditary motor and sensory neuropathy with optic atrophy" + }, + { + "baseId": "17319", + "text": "MFN2-Related Disorders" + }, + { + "baseId": "17322|39686|39687|82413|102399|102401|135471|135472|135473|135474|135475|135476|142505|142506|142507|142509|142510|142511|177978|178388|181292|195041|195782|196078|196080|202684|202685|202686|202688|202689|202690|202693|202696|202697|202699|202704|202706|202707|202708|241552|241553|244138|265444|269130|317066|317070|317084|324780|324811|324820|330902|330914|360943|373027|373033|373035|373037|373251|375109|375126|398985|399142|399143|399456|399457|408653|444995|444996|462162|462164|462171|462174|462445|462449|462452|462455|462459|462950|462957|462966|463087|463095|463097|463101|491613|493645|504424|527150|527157|527172|527178|527418|527428|527436|527664|527666|527669|527688|527693|527695|527697|565465|565474|565476|566287|566835|566836|568043|568044|568050|571851|579810|579820|641127|641128|641129|641130|641131|641132|652323|687989|687990|687991|687993|769115|793423|839904|839905|839906|839907|839908|839909|839910|839911|839912|839913|839914|839915|839916|839917|839918|839919|839920|839921|839922|839923|839924|839925|839926|926623|926624|926625|926626|926627|926628|926629|926630|936113|936114|936115|936116|936117|936118|936119|936120|936121|936122|948013|948014|948015|948016|948017|948018|948019|956868|956869|956870|956871|970960", + "text": "Progressive myoclonus epilepsy with ataxia" + }, + { + "baseId": "17323|17324|17325|17326|17327|17328|17331|17332|17334|17335|17336|38424|101555|101556|101557|101557|101558|101559|101560|101562|101564|101565|101566|165496|165497|165499|165499|165500|165502|165502|167386|167386|167387|167387|190879|193136|205757|205758|244159|253350|253350|253353|253356|253356|253357|253359|253359|253360|253360|253361|253363|253363|270115|270117|270117|307125|307126|307130|307131|307134|307135|307136|307141|307142|307146|307150|307153|307153|307167|307167|307168|307171|307174|307175|307176|307176|307183|307184|307187|307190|307193|311247|311250|311273|311308|311314|311316|311316|311320|311322|311323|311324|311328|311333|311333|311334|311334|311335|311335|311351|311352|316834|316846|316847|316848|316852|316855|316866|316877|316880|316880|316882|316886|316887|316896|316914|316914|316915|316917|316918|316918|316919|316919|316922|316922|316925|316926|317275|317281|317282|317283|317284|317285|317292|317295|317296|317299|317307|317308|317308|317319|317323|317324|317324|317333|317346|317346|317350|317350|317351|411570|411570|411571|411571|415165|433911|433912|433913|441269|441270|441271|441274|441277|441282|441283|441286|441287|441287|441290|441293|441298|441302|441305|441307|441308|441311|441311|441312|441312|441314|458502|458513|458524|458525|458535|458535|458553|458553|458555|458558|458558|458571|458573|458575|458576|458929|458933|458941|458952|458952|458959|458959|458964|458965|458967|458967|458968|458973|458974|458977|458979|458981|458982|458985|458985|458987|458987|458988|458988|458990|458992|458994|458998|459005|459007|459439|459441|459446|459447|459448|459448|459455|481843|481843|513297|524098|524108|524109|524114|524115|524119|524123|524124|524388|524390|524392|524393|524399|524399|524401|524403|524603|524614|524616|524623|524627|524629|524651|524653|524656|524661|524666|524677|524681|524686|524703|524706|524711|524717|524717|552134|552135|562850|562855|562856|562857|562862|562864|562866|562868|562872|563595|563596|563600|563603|563604|565598|565600|565606|565611|565612|565615|565616|565616|568588|568595|568597|568599|568605|568607|568612|577104|577107|577109|577111|577112|609722|620322|637802|637803|637804|637804|637805|637806|637806|637807|637808|637809|637810|637811|637812|637813|637814|637815|637816|637817|637818|692603|692604|692605|692605|692606|692609|692611|692612|692615|692616|692618|692619|692620|692621|736971|736972|736973|787602|793305|793307|793311|793323|793324|793328|793330|798614|798615|798616|799585|800789|820080|820081|821983|835609|835610|835611|835612|835613|835613|835614|835615|835616|835617|835618|835619|835620|835621|835622|835623|835624|835625|835625|835626|835627|835628|852492|859729|861358|861359|861632|901212|901213|901214|901215|901216|901217|901218|901219|901220|901221|901222|901223|901224|901225|901226|901227|901228|901229|901230|901231|901232|901233|901234|901235|901236|901237|901238|901239|901240|901241|901242|901243|901244|901245|901246|901247|901248|901249|901250|901251|901252|901253|901254|901255|901256|901257|901258|901259|901260|901261|901262|901263|901263|901264|901265|901266|901267|901268|901269|901270|901271|901272|903327|903328|903329|903330|919193|925415|925416|925417|925418|925419|925420|925421|925422|925423|934585|934586|934587|934588|934589|934590|934591|934592|946410|946411|946412|946413|946414|946415|946416|946417|955717|955718|955719|955720|955721|970898|970899", + "text": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2" + }, + { + "baseId": "17328|17328|17329|17330|17332|38424|101555|101556|101557|101557|101558|101559|101560|101562|101564|101565|101565|101566|165496|165497|165499|165499|165500|165500|165502|165502|167386|167386|167387|167387|190879|193136|253350|253350|253353|253356|253356|253357|253359|253359|253360|253360|253361|253363|253363|270115|270117|270117|307125|307126|307130|307131|307134|307135|307136|307141|307142|307146|307150|307153|307153|307167|307167|307168|307171|307174|307175|307176|307176|307183|307184|307187|307190|307193|311247|311250|311273|311308|311314|311316|311316|311320|311322|311323|311324|311328|311333|311333|311334|311334|311335|311335|311351|311352|316834|316846|316847|316848|316852|316855|316866|316877|316880|316880|316882|316886|316887|316896|316914|316914|316915|316917|316918|316918|316919|316919|316922|316922|316925|316926|317275|317281|317282|317283|317284|317285|317292|317295|317296|317299|317307|317308|317308|317319|317323|317324|317324|317333|317346|317346|317350|317350|317351|411570|411570|411571|411571|415165|433911|433912|433913|441269|441270|441271|441274|441277|441282|441286|441287|441287|441290|441293|441295|441298|441302|441305|441307|441308|441311|441311|441312|441312|441314|458502|458513|458524|458525|458535|458535|458553|458553|458555|458558|458558|458571|458573|458575|458576|458929|458933|458941|458952|458952|458959|458959|458964|458965|458967|458967|458968|458973|458974|458977|458979|458981|458982|458985|458985|458987|458987|458988|458988|458990|458992|458994|458998|459005|459007|459439|459441|459446|459447|459448|459455|481843|481843|524098|524108|524109|524114|524115|524119|524123|524124|524388|524390|524392|524393|524399|524399|524401|524403|524603|524614|524616|524623|524627|524629|524651|524653|524656|524661|524666|524677|524681|524686|524703|524706|524711|524717|524717|540455|562850|562855|562856|562857|562862|562864|562866|562868|562872|563595|563596|563600|563603|563604|565598|565600|565606|565611|565612|565615|565616|565616|568588|568595|568597|568599|568605|568607|568612|577104|577107|577109|577111|577112|609722|620322|637802|637803|637804|637804|637805|637806|637806|637807|637808|637809|637810|637811|637812|637813|637814|637815|637816|637817|637818|692603|692604|692605|692605|692606|692609|692611|692612|692615|692616|692618|692619|692620|692621|736971|736972|736973|787602|790848|790849|793305|793307|793311|793323|793324|793328|799585|820080|820081|821983|835609|835610|835611|835612|835613|835613|835614|835615|835616|835617|835618|835619|835620|835621|835622|835623|835624|835625|835625|835626|835627|835628|852492|859729|861358|861359|861359|901212|901213|901214|901215|901216|901217|901218|901219|901220|901221|901222|901223|901224|901225|901226|901227|901228|901229|901230|901231|901232|901233|901234|901235|901236|901237|901238|901239|901240|901241|901242|901243|901244|901245|901246|901247|901248|901249|901250|901251|901252|901253|901254|901255|901256|901257|901258|901259|901260|901261|901262|901263|901263|901264|901265|901266|901267|901268|901269|901270|901271|901272|903327|903328|903329|903330|925415|925416|925417|925418|925419|925420|925421|925422|925423|934585|934586|934587|934588|934589|934590|934591|934592|946410|946411|946412|946413|946414|946415|946416|946417|955717|955718|955719|955720|955721", + "text": "Amyotrophic lateral sclerosis type 4" + }, + { + "baseId": "17328|17329|17330|20041|24246|24247|141142|141143|141144|141145|141146|141147|171902|171903|186076|191530|192141|212511|212578|215003|221697|221699|230227|237453|244499|244678|244732|252786|252788|252790|252795|281044|281097|281645|281648|281667|281669|281687|282892|283165|283172|302780|302781|302785|302795|302796|302798|302805|306103|306109|306110|306131|306135|306149|306154|310897|310901|310902|310903|310904|310905|310906|310908|310909|311055|311072|311080|311081|311082|311085|311086|311087|311089|311090|311091|311092|311094|395634|402131|407124|425751|455267|457158|457340|482001|509044|512853|521333|528356|531096|540442|540445|540446|540455|540458|540464|552154|564895|565041|570939|609186|610418|611754|625137|625139|625205|625208|625209|625211|625217|625218|625219|625220|625222|625223|625228|625233|625234|625235|625240|625244|625245|625246|625248|625250|625251|625252|625254|625751|625752|636133|651628|683004|683006|683009|683044|683045|683046|683051|683063|683064|683069|683076|683099|683101|683102|683104|683115|815845|815846|833570|897972|897973|897974|897975|897976|897977|897978|897979|897980|897981|897982|897983|900352", + "text": "Distal spinal muscular atrophy" + }, + { + "baseId": 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+ "text": "Glycogen storage disease, type V" + }, + { + "baseId": "17354|17355", + "text": "McArdle disease, mild" + }, + { + "baseId": "17356|17357|17358|17359|17360|17361|39682|140940|140941|140942|140943|211889|211890|211891|211892|211893|211894|211895|257139|333729|333732|333733|333736|343706|349053|349054|349055|349058|349945|349947|349948|361262|376595|424283|426319|430239|430240|471010|481376|481377|487822|487823|496113|496114|496115|496116|496117|496118|496119|496120|496121|496122|496123|496124|496125|496126|496127|496128|506854|533188|550091|570844|573182|590458|609188|620641|648171|648172|652951|694465|694466|716506|716507|745414|757092|772735|772736|786219|821262|821263|882108|882109|882110|882111|882112|882113|882904|904213|938726|938727|950819|958653|958654|960293|979986", + "text": "Ethylmalonic encephalopathy" + }, + { + "baseId": 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+ "text": "Emery-Dreifuss muscular dystrophy 5, autosomal dominant" + }, + { + "baseId": 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+ "text": "Spinocerebellar ataxia, autosomal recessive 8" + }, + { + "baseId": 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+ "text": "Emery-Dreifuss muscular dystrophy 4, autosomal dominant" + }, + { + "baseId": "17374|264275|268173|268749|623618|793124|970824|970825", + "text": "Arthrogryposis multiplex congenita 3, myogenic type" + }, + { + "baseId": "17375|17376|17378|17379|208176|255174|271609|360186|429647|434646|445312|464206|464208|528771|528774|528821|567014|568742|568753|568758|643156|643157|643158|643159|643160|693669|703156|739579|804914|816478|842289|842290|842291|842292|936915|936916|948871|957407|957408|957409|971014", + "text": "Ehlers-Danlos syndrome, musculocontractural type" + }, + { + "baseId": "17375|17376|17378|17379|17380|17381|33460|65663|439521", + "text": "Ehlers-Danlos syndrome, musculocontractural type 1" + }, + { + "baseId": "17382|141885|141886|192552|200012|200013|287138|287143|290398|290404|290408|290707|290710|630415|630416|630417|733547|781432|819268|885404|885405|885406|885407|885408|887390", + "text": "Methylmalonyl-CoA epimerase deficiency" + }, + { + "baseId": 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+ "text": "Nephrotic syndrome, type 3" + }, + { + "baseId": 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014|541017|541018|541020|541020|541022|541023|541024|541025|541026|541027|541028|541029|541030|541031|541032|541034|541035|541036|541036|541037|541039|541043|541044|541045|541046|541047|541048|541049|541050|541050|541051|541053|541055|541056|541057|541059|541060|541060|541061|541062|541063|541064|541065|541065|541066|541067|541067|541069|541070|541071|541071|541073|541074|541076|541077|541079|541080|541081|541082|541083|541084|541085|541086|541086|541087|541088|541089|541090|541092|541093|541094|541095|541096|541096|541097|541099|541101|541104|541105|541106|541107|541108|541109|541110|541111|541112|541115|541125|541127|550865|551511|551513|551517|551619|551756|551776|552400|590236|609371|609373|609375|610612|619989|622310|623244|623800|623803|627362|654178|654179|654186|654188|654191|654196|655061|679901|696464|707090|718634|718638|718639|732101|732106|732107|732111|732112|732113|732115|732116|732117|732118|732121|732122|746099|746102|746103|746107|746110|746117|746118|758861|761555|761562|761567|761568|761572|761581|761585|761589|761596|761597|761599|761602|761603|761611|761613|761615|761617|761619|761621|761623|774452|778794|780495|780501|780512|780519|780529|780539|780540|780543|780552|780557|789916|789917|789918|789919|789920|789921|789922|789923|789924|789925|789926|789927|789928|789929|789930|789931|794566|800348|800365|800366|800367|801589|801590|801591|801592|821835|821836|821837|823328|823329|823330|823335|823338|823340|823346|823349|823361|823363|823370|823374|823378|823385|823388|823392|823399|823403|823404|823406|823410|823417|823418|823421|823428|823435|823436|823437|823440|823443|823446|823447|823449|823459|823463|823467|823468|850756|851273|855909|857405|857671|863530|863531|863532|863533|863534|863535|863536|863537|863538|863539|863540|863541|863542|863543|863544|863545|863546|863547|863548|863549|863550|863551|863552|863553|863554|863555|865109|865110|906121|906122|906123|906124|906125|906126|906127|918601|918602|918603|918604|918606|918607|918608|918609|920133|920134|962914|967257|969092|977479|977480|977481|977482|977483|977484|977485|977486|977487|977489|977490|977492|977496|977497|977498|977499|977500|977501|977502|977503|977504|977505|977506|977507|977508|977509|977510|977511|977512|977513|977514|977515|977516|977517|977518|977519", + "text": "Usher syndrome, type 2A" + }, + { + "baseId": 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+ "text": "Retinitis pigmentosa 39" + }, + { + "baseId": "17390|17390|17392|17394|17395|17396|17398|19965|19966|20180|20182|21837|24190|26891|27182|39679|52339|52355|52388|52393|52462|52468|52495|52505|55179|55241|55481|55539|57509|57514|57557|57571|57579|57621|57626|57630|57643|57659|57665|57671|57683|57697|57706|57743|57754|57759|57766|57773|57777|57788|84447|137049|172375|172388|172390|172520|172526|172740|172743|172882|172902|172905|172906|172913|175222|175253|175286|175524|176880|176888|178187|178248|178280|193260|194583|194608|194671|195093|195527|226519|226532|228240|228299|228311|228321|229846|229854|230249|231427|237980|259652|260777|266055|266381|405046|408481|421203|425880|431571|431572|431573|431579|431580|431582|431584|431586|431590|431599|431603|431604|431606|431608|431609|431684|431685|431686|431687|431752|431753|431760|431761|431762|431763|431764|431765|431766|431767|431768|431869|431870|431879|431881|488838|489150|494952|494953|494954|494979|496182|540920|541060|541096|546425|551533|551534|576301|612044|620779|622995|624027|654597|655061|918364|918488|969547", + "text": "Usher syndrome" + }, + { + "baseId": "17390|31371|48304|67621|205216|223281|223282|263195|263212|263223|263228|263237|263243|263265|263382|393365|395696|513960|513988|514121|514166|514198|519149|540141|590036|590057|590081|590097", + "text": "13 conditions" + }, + { + "baseId": "17390|18588|20649|20771|22927|22933|22940|24189|24190|24396|28206|31971|32680|76340|98777|102552|104588|104593|104952|104995|105071|105135|105177|105181|105317|105337|105394|105402|105625|105653|105777|237685|259643|287942|321026|417082|431558|431618|431622|431630|431635|431693|431694|431716|431804|431818|431833|439631|439632|488680|513915|513929|513951|514169|528800|544286|551545|551549|623817|623848|623849|623852|623871|623877|623961|623972|624042|794253|794257|794258|794259|794260", + "text": "Macular dystrophy" + }, + { + "baseId": "17390|20883|26654|26656|40161|227365|271052|274282|431612|431625|431682|431683|431739|431779|431780|431781|431782|431783|431784|431829|431832|431837|431840|431841|431842|431843|431844|431845|431846|431847|431848|434600|497708|584920|613267|623838|623880|623949|623969|623970|798325|800589|800590|800643|800644|800645|800646|800647|800648|800654|800655|800656|800657|800658|800659|800660|800706|801496", + "text": "Congenital stationary night blindness" + }, + { + "baseId": "17390|17392|17395|17398|57638|57665|57706|626104|861589", + "text": "USH2A-Related Disorders" + }, + { + "baseId": "17396|19890|29315|32041|32043|32043|32043|32044|32045|32048|32049|32053|32055|32055|32062|32068|32071|34239|38617|53902|53904|53907|53909|53916|53930|57649|67271|76712|168624|169009|169010|169011|169012|169013|169014|181454|191764|223747|247054|263239|268648|354284|354286|354286|354287|354287|354288|354295|360840|360860|360885|360886|360906|361056|361392|362144|362151|406053|492270|513923|513952|513977|514006|514113|514116|514152|514154|514168|581871|581872|581873|581874|581875|581876|581877|581878|581879|581880|581881|610530|610531|624879|800396|800402|800403|800404|800413|801081|966399|983303", + "text": "Hearing impairment" + }, + { + "baseId": "17396|226957|230000|263404|359493|360808|360866|429949|513936|514071|514072|553143", + "text": "Congenital sensorineural hearing impairment" + }, + { + "baseId": "17396|17397|17400|39679|55440|55455|55569|57552|57754|57788|86942|152897|172522|228337|228349|361628|413262|413264|413271|413273|413306|437845|540912|540961|541105|541109|683137|683138|800429|800431|800433|800435|800436|800440|800441|800442|800506|800507|801277|801279|801281|801284|801286|801291|801294|801296|801298|801299|801302|801304|801305|801306|801307|801382|801383|801423|801424|801425|801426|801430|801431", + "text": "Usher syndrome type 2" + }, + { + "baseId": "17397|104561|513994", + "text": "Pigmentary retinopathy" + }, + { + "baseId": "17397|22918|105002", + "text": "Abnormal macular morphology" + }, + { + "baseId": "17397|200983|200986|297377|370448|404617|418811|418812|431877|513934|513935|513966|623968|681597|800988|818725|858652|965405", + "text": "Rod-cone dystrophy" + }, + { + "baseId": "17397|17403|415139|513916|513929", + "text": "Retinal pigment epithelial atrophy" + }, + { + "baseId": "17402", + "text": "Autism 16" + }, + { + "baseId": "17403|96868|96869|96870|176946|177209|177577|177578|190683|190684|195274|238003|250437|250438|264085|286043|286044|286056|366713|431648|431649|431650|512892|513022|513023|513915|513916|541791|629180|707887|719468|747105|762720|781090|787254|790135|799268|799269|818180|825451|825453|825460|850821|952849|952851|977657|977658|977659|977660|977661", + "text": "Retinitis pigmentosa 26" + }, + { + "baseId": "17403|22923|24220|24394|24396|24949|28222|102019|104480|105365|106482|152960|177450|191956|252354|259677|268269|300123|300126|300134|300137|302858|302861|302865|302867|302869|302871|307243|307263|307275|307276|307289|307471|307480|307508|307515|307521|307522|361572|420007|431645|431646|431657|431757|431800|431854|431867|432018|513916|551590|612235|612240|800561|801316|801318|801321|801338|801347|801349|801388|801415|801416|801417|801439|801455", + "text": "Cone dystrophy" + }, + { + "baseId": "17404|17405|17406|17407|17408|17409|17410|17411|17412|212072|212073|212074|221080|221081|221082|276270|276275|276281|276285|276515|276516|276518|276519|276528|276915|276918|276939|276940|276941|277040|277055|277058|277067|277068|390720|447268|514856|515059|515153|535732|550878|556484|556487|581864|626777|626778|626779|626780|862149|862150|862151|862152|862153|862154|862155|862156|862157|862158|862159|862160|862161|862162|862163|862164|862165|862166|862167", + "text": "Hemochromatosis type 2A" + }, + { + "baseId": "17413|433676|433677|433678|700819|700821|723348|789745|789746|799580", + "text": "Agammaglobulinemia 5, autosomal dominant" + }, + { + "baseId": "17414|17416|17417|17418|17419|17420|17421|17422|99244|99245|99248|99249|99251|99252|99258|99259|99260|99262|99266|99268|99269|99273|99276|99279|99282|99292|99295|99297|195594|225801|333630|349906|426317|648139|694431|728206|728207|741915|741916|741918|741919|772710|772711|772713|786202|786206|979983|979984|979985", + "text": "Maple syrup urine disease type 1A" + }, + { + "baseId": "17414|17416|17419|26976|26982|26985|26988|26989|76678|76679|99241|99242|99243|99244|99245|99248|99249|99250|99251|99252|99258|99259|99260|99261|99262|99264|99266|99268|99269|99272|99273|99274|99275|99276|99278|99279|99282|99283|99284|99289|99290|99291|99292|99295|99297|99884|99887|99889|99892|99893|99894|99895|99896|99908|99909|99910|99911|99912|99913|99914|99915|99918|99919|102454|102455|102456|102457|102461|102465|102469|102471|102472|102475|102479|102480|102483|102484|102485|102486|102492|102495|102497|102498|102500|102501|102502|102504|102508|102509|102514|102515|116675|134332|176981|177515|177516|177667|186721|190799|192318|195594|195908|199937|200129|200344|200771|200772|200773|200774|206688|206689|225782|225783|225784|225785|225786|225787|225788|225789|225800|225801|227303|252539|265476|265571|268007|275553|275554|275555|275556|275557|275558|275559|275560|275561|275562|275563|275564|275565|275566|275567|275568|275569|275570|275571|275572|275573|275574|275575|275576|275577|275578|275579|275580|275581|275582|275583|275584|275585|275586|275587|275588|275589|275590|275591|275592|275593|275594|275595|275596|275597|275598|275599|275600|275601|275602|275603|275604|275605|275606|275607|275608|275609|275610|275611|275612|275613|275614|275619|275621|275623|275624|275625|275626|275627|275628|275629|275630|275631|275632|275633|275634|275635|275636|275637|275638|275639|275640|275641|275642|301176|301182|301184|301189|301191|301194|301195|301200|301201|301205|301207|301480|304272|304273|304282|304288|304289|304303|304304|304311|304317|304324|304332|304336|304341|304345|304346|304347|304349|304744|308957|308960|308961|308974|308975|308976|309046|309048|309049|309050|309058|309062|309063|309064|309080|309085|309086|309088|309090|333630|333635|333637|333641|333643|333646|333662|333674|343673|343679|343680|343683|349007|349008|349012|349018|349906|349908|349910|349912|349913|349914|349915|353804|356979|357516|357517|357518|357519|357520|357521|357522|357523|357524|357525|358619|361834|368762|368765|369081|369320|376568|376574|377548|379596|379597|379598|384484|384485|421147|425715|426316|426317|430989|433480|433481|444020|446912|446935|446938|446980|456100|456437|468824|469856|470251|470256|497317|497915|502100|506843|506845|507846|513375|513376|514893|514911|521867|522220|522228|522231|522251|522264|522618|533054|540623|540624|540625|540626|540627|540628|540629|540630|540631|540632|540633|540634|540635|540636|540637|540639|540641|540643|540648|540654|540655|540659|540664|543978|543979|543981|543983|543988|544000|544243|544244|544264|544265|544267|544268|544273|544274|544276|544321|544323|544327|544328|544329|544330|544332|544336|544349|544353|544356|544358|548791|548795|548799|548802|548803|548804|548805|548820|548829|548838|548839|548842|549164|549165|549167|549173|549175|549177|549359|549360|549361|549362|549363|556510|556537|556539|561122|563824|563826|570808|574981|581742|609633|612251|612278|612330|612331|612341|620701|622463|626466|626467|635310|635311|635312|635313|648139|648140|648141|650521|651570|692073|694431|695825|699678|710620|710621|718037|718038|722152|728206|728207|728208|731504|741915|741916|741917|741918|741919|741920|743646|743647|745488|745490|750244|757047|758786|758787|758791|761011|765879|765880|765883|765886|772707|772710|772711|772713|772714|774353|776985|780242|780245|780246|782671|782674|786203|786204|786967|789811|789812|790660|790661|790662|818825|818826|818827|818828|819756|819757|819758|819759|821257|821258|822355|822356|822357|832583|832584|832585|832586|832587|832588|832589|847726|851102|852040|861686|861687|861688|861689|861690|861691|861692|861693|861694|861695|861696|861697|861698|861699|861700|861701|861702|861703|861704|861705|861706|861707|861708|861709|861710|861711|861712|861713|861714|861715|861716|861717|861718|861719|861720|861721|861722|861723|861724|861725|861726|861727|861728|861729|861730|861731|861732|861733|861734|861735|861736|861737|861738|861739|861740|861741|861742|861743|861744|861745|861746|861747|861748|861749|861750|861751|861752|861753|861754|861755|864939|882081|882082|882083|882084|882085|882086|882087|882088|882089|882090|882091|882092|882093|882894|882895|896989|896990|896991|896992|896993|896994|896995|896996|896997|896998|896999|897000|897001|897002|897003|897004|897005|897006|897007|905914|916978|918537|920408|921532|921533|924519|924520|924521|928975|928976|928977|928978|928979|929888|933525|933526|933527|933528|933529|933530|938698|938699|938700|938701|945250|945251|945252|950804|950805|951978|951979|954929|954930|958645|958646|958647|958648|958649|958650|959514|959820|960395|960614|960919|961791|965749|965750|965751|971135|971629|971630|971631|971632|971633|971634|971635|971636|971968|971969|971970|971971|971972|971973|972335|972336|972337|972338|972339", + "text": "Maple syrup urine disease" + }, + { + "baseId": "17416|17417", + "text": "MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA" + }, + { + "baseId": "17425|17426|17427|17428|17429|17430|17431|17432|17433|17434|17435|17436|140122|200106|298991|298995|301405|305774|305790|305791|305796|305801|306021|306022|406814|406816|406817|455277|501451|501540|501825|521434|521768|543611|543614|543616|543619|543916|543918|543919|543920|543922|543924|543925|543926|543927|543928|543929|543931|543932|543933|543935|543936|544003|544010|544011|544013|544020|544022|544028|544030|560461|560463|560598|563388|565433|620213|634617|634618|634619|634620|651480|686799|686800|686801|691939|721718|744263|749814|759629|782451|790585|790586|790587|831554|831555|831556|831557|831558|852008|895322|895323|895324|895325|895326|904751|944886|954369|954370|980327", + "text": "Arginase deficiency" + }, + { + "baseId": "17437|17438|17439|17440|17441|17442|34105|34106|98269|98270|98271|98272|98273|98274|98275|98276|140125|177119|195545|200146|200147|200148|200149|200150|200152|200153|200154|200158|200161|226851|226852|226853|226854|226855|226856|226857|226858|226859|226860|226862|228216|252905|273007|303265|303267|303271|303274|306584|306585|306587|306589|306604|306609|306611|311483|311653|359828|369259|369262|369902|371309|371324|371334|415107|415108|457529|457530|457535|457536|487358|502452|522780|523035|523038|523226|523229|523230|544227|544230|544232|544237|544239|544245|544253|544263|544289|544526|544532|544534|544541|544564|544566|544567|544568|544572|544576|544578|544580|544581|544587|544588|544590|544591|544593|544595|544598|544624|544625|544629|544631|544632|544634|544640|544645|544647|544653|544657|544658|561725|562137|564395|636307|636308|636309|636310|636311|636312|651642|651694|651728|651729|651759|679756|692266|692267|692268|692269|692270|692271|695368|722609|722610|736220|736221|736222|744307|750721|766350|766351|766352|766356|775274|775403|779435|782905|782907|782908|782911|819905|819908|819909|819910|819911|821948|833799|833800|833801|833802|833803|833804|833805|833806|833807|851652|898300|898301|898302|898303|898304|898305|898306|898307|898308|898309|898310|898311|898312|898313|898314|900387|921466|933978|940083|945748|945749|955204|955205|955206|959508|972003|972004|972005|972006|972007|972008|978398|978399|978400|978401", + "text": "Argininosuccinate lyase deficiency" + }, + { + "baseId": "17443|17444|17445|17446|17447|17448|17449|17450|17451|17452|17453|17454|17456|24734|24744|181392|187107|249676|249677|249678|270627|271018|273199|273569|278529|278531|278532|278534|278541|278542|278543|278550|278551|278559|278643|278644|278645|278656|278657|278658|278672|278676|278678|279796|279797|279798|279803|279809|279812|279953|279962|279965|279966|279967|361485|361486|425331|439180|440432|440434|447474|447721|485989|491572|515409|515514|556768|609368|619985|619986|619987|619988|627313|627314|627315|627316|627317|690471|690472|690473|690474|690475|690476|707026|718571|718573|794551|823272|823273|863341|863342|863343|863344|863345|863346|863347|863348|863349|863350|863351|863352|863353|863354|863355|863356|863357|863358|863359|863360|863361|863362|863363|863364|863365|863366|865097|865098|918593|930252|939792|952221|959540", + "text": "Parkinson disease 6, autosomal recessive early-onset" + }, + { + "baseId": "17455", + "text": "Parkinson disease 6" + }, + { + "baseId": "17456|22108", + "text": "Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1" + }, + { + "baseId": "17457|17458|17459|17460|17461|17463|17464|17465|39677|111328|134297|134298|134299|134300|134301|140726|140727|140728|140729|172198|194135|194135|199986|199987|199988|199989|199990|199993|206940|236961|237339|237339|250535|250537|250540|250541|264072|265568|284536|284537|284541|284542|284547|284558|284559|284560|284562|284567|284568|284577|284578|285222|285223|285225|285232|285233|285239|285240|285242|285243|285245|285250|285254|285255|285258|287384|287386|287393|287394|287416|287418|287419|287420|287422|287425|287437|287441|287446|287448|287449|287644|287646|287647|287651|287656|287657|287658|287659|366120|366130|366283|366284|366285|366293|366344|366346|366939|366960|404756|405557|421361|443154|443155|450313|450317|450452|450459|450461|450502|450507|450597|481357|486956|499515|499901|499959|499964|517704|517734|517880|541668|541670|541672|541674|541676|541678|541681|541686|541691|541693|541698|541700|541702|541704|541705|541712|541713|541716|541724|541725|541734|541735|541741|541745|541747|541748|541752|541756|541758|541760|541763|541764|541765|541769|541770|541772|541773|541776|541779|541784|541785|541787|541788|541788|541792|541793|541795|541796|541797|541799|541806|541807|541814|541816|541818|541820|541822|541824|541825|541828|541829|541830|541833|541835|541836|541840|541844|541847|541848|541849|541852|541854|541862|541863|541866|541868|541875|541877|541887|557834|557889|557891|559069|560809|560811|560815|560817|560817|560821|560823|620056|620739|620740|621108|629352|629353|629354|629355|629356|629357|629358|629359|650910|650917|650945|650950|655413|655414|655415|655416|658873|686141|691022|691023|691024|691025|691026|707996|719576|719577|743846|743850|747239|747240|747241|759015|759194|762847|762849|762850|762852|762853|762854|762856|762857|774652|781139|787093|790165|790166|790167|790168|790169|790170|790171|819106|825644|825645|825646|825647|825648|825649|825650|825651|825652|825653|825654|825655|825656|825657|825658|825659|825660|850831|861617|861618|883641|883642|883643|883644|883645|883646|883647|883648|883649|883650|883651|883652|883653|883654|883655|883656|883657|883658|883659|883660|883661|883662|883663|883664|883665|883666|883667|883668|883669|883670|887257|887258|887259|887260|887261|906067|916858|922541|922542|931103|931104|931105|931106|931107|939873|942576|942577|942578|942579|942580|952896|952897|952898|952899|952900|952901|952902|952903|952904|952905|952906|952907|952908|952909|971709|971710|971711|971712|971713|971714|971715|971716|971717|971718|971719|971720|971721|971722|971723|971724|971725|971726|971727|971728|971729|971730|971731|971732|971733|971734", + "text": "Congenital hyperammonemia, type I" + }, + { + "baseId": "17462", + "text": "CARBAMOYL PHOSPHATE SYNTHETASE I POLYMORPHISM" + }, + { + "baseId": "17462|194135|237339|404756|541788|560817", + "text": "Pulmonary hypertension, neonatal, susceptibility to" + }, + { + "baseId": "17466|17467|17468|17469|17470|17471|17472|17473|200314|200315|256179|256180|256181|328630|328633|328634|328636|338615|338616|344663|344666|344668|344676|364128|375140|376056|376142|376144|378306|410040|415563|506870|531138|531406|571213|574496|581775|612181|646068|646069|646070|653276|715478|727200|727201|740799|740800|740801|740802|740804|771561|785604|785605|785606|785607|785609|785610|845482|845483|845484|845485|877667|877668|877669|877670|877671|877672|877673|877674|877675|877676|877677|877678|920372|928328|928329|949966|949967|958141|960888|979906|979907|979908", + "text": "Hyperammonemia, type III" + }, + { + "baseId": "17475|17476|17477|17478|17479|17480|217277|316957|316961|316980|316981|316983|316984|316986|316987|316988|316992|316994|316995|317001|317002|317009|317013|324575|324576|324579|324599|324605|324606|324609|324610|324611|324616|324622|324623|324626|324629|324630|324635|324636|324637|324657|324658|324662|324663|324676|330780|330781|330785|330787|330788|330796|330804|330805|330815|330819|330825|330827|330828|330829|330833|330838|330845|330846|332181|332199|332201|332206|332217|332227|332228|332229|332231|332235|332242|332244|332256|332257|332274|332276|332281|332292|332293|332300|332313|620440|620441|620848|725083|738626|753346|769102|869741|869742|869743|869744|869745|869746|869747|869748|869749|869750|869751|869752|869753|869754|869755|869756|869757|869758|869759|869760|869761|869762|869763|872233|872234|872235|872236", + "text": "Fibrosis of extraocular muscles, congenital, 1" + }, + { + "baseId": "17475|17476|17481", + "text": "Fibrosis of extraocular muscles, congenital, 3b" + }, + { + "baseId": "17482|17488|17489|17493", + "text": "Sialidosis type I" + }, + { + "baseId": "17483|17484|17485|17486|17487|17490|17491|17492|17494|17495|17496|17497|215038|215039|273412|299753|299758|299759|299762|299763|302344|302345|302346|302349|302360|302367|306753|306760|307067|307077|307078|307085|549604|620225|721957|721958|858593|895745|895746|895747|895748|895749|895750|895751|895752|895753|895754|895755|895756", + "text": "Sialidosis type 2" + }, + { + "baseId": "17498|142739|142740|188493|188498|188500|188501|189321|189322|189323|241058|372002|398399|398509|510255|526012|526421|551780|564446|625808|639736|639737|652157|680063|689998|838019|838020|838021|926133|926134|935403|947333|947334|956397", + "text": "Long QT syndrome 10" + }, + { + "baseId": "17499|77865", + "text": "Woolly hair, autosomal dominant" + }, + { + "baseId": "17500|17501|17502|17503|17504|17505|17506|17507|98216|98217|133725|133726|133727|140010|140011|140012|140013|140014|177473|190709|192169|194780|196141|203836|203839|203840|203841|203843|203845|203846|203851|203852|203853|203854|203856|203858|203859|203860|203863|203864|205025|215599|237095|243715|257684|265993|267588|267768|273616|274158|338124|338129|338130|347772|351611|352562|352563|377512|377516|377521|377536|378728|378730|378732|378797|378815|379856|379857|403985|411019|411020|426378|446422|470306|470309|471148|471151|471313|471596|471597|471978|534340|534344|534345|534352|534355|534362|534477|534836|534839|572000|572004|573411|574139|574140|575272|575273|614493|614494|649513|649514|649515|649516|649517|649518|649519|649520|649521|649522|649523|649524|649525|649526|653724|653725|684922|731424|788093|792070|792071|798771|821461|821462|821463|821464|849362|849363|849364|849365|849366|849367|849368|849369|849370|849371|849372|849373|851928|852940|891310|891311|891312|891313|891314|891838|891839|891840|929490|929491|929492|929493|929494|929495|939319|939320|939321|939322|939323|940534|951481|951482|951483|951484|951485|951486|959100|960968|971161", + "text": "Adenylosuccinate lyase deficiency" + }, + { + "baseId": "17508|39810|39811|39812|207737|207738|207740|253721|253722|253723|253724|253725|253726|253727|253728|253729|253732|253734|253736|253737|253738|253739|253740|253741|310109|310113|310115|310124|310125|310136|310137|310139|310141|310144|310145|310150|310153|310154|310162|315192|315197|315198|315207|315226|315227|315247|315248|315254|315266|315267|321220|321230|321255|321261|321263|321266|321274|321278|321279|321283|321284|321294|321777|321778|321780|321782|321788|321795|321816|321830|321831|321832|321850|321851|321869|321880|321899|321904|425871|429053|429057|429060|429061|429062|578483|615436|701301|723897|723898|723899|723900|816472|865761|865762|865763|865764|865765|865766|865767|865768|865769|865770|865771|865772|865773|865774|865775|865776|865777|865778|865779|865780|865781|865782|865783|865784|865785|865786|865787|865788|865789|865790|865791|865792|865793|865794|865795|865796|865797|865798|865799|865800|868466|868467|868468|868469|919266|980938", + "text": "Thrombocytopenia 2" + }, + { + "baseId": "17509|142736|150288|188504|188505|188506|188507|254022|258685|398081|461292|510259|564502|564503|639813|639814|639815|684238|759940|926151|947354", + "text": "Brugada syndrome 7" + }, + { + "baseId": "17509|150289|150290|150291", + "text": "Atrial fibrillation, familial, 16" + }, + { + "baseId": "17510|17511|17511|17512|17513|17514|17515|17516|137943|137944|137946|137947|137950|137951|137953|137954|137954|137955|137956|137957|190929|192606|192607|215653|254166|254170|259984|259986|259987|264541|264544|275005|314033|314037|314039|314040|314042|314043|314045|314046|314050|314053|314054|314055|320503|320506|320508|320511|320512|320524|320525|326459|326466|326473|326483|326487|326491|326492|326493|326495|326496|326500|326501|326502|326504|327488|327489|327492|327506|327507|327508|327525|327527|327529|327531|327544|353189|374068|408349|444802|460433|461215|461611|461620|461621|461927|495713|525675|526206|526210|526215|526390|526396|538422|564095|564626|564631|564633|564633|565025|565765|565770|565774|612092|626205|640051|640052|640053|640054|640055|640056|640057|640058|652126|701764|712825|712826|724437|724438|737972|796573|805692|820367|820368|820369|820370|820371|820372|822306|838422|838423|838424|838425|838426|838427|838428|838429|838430|838431|838432|838433|838434|838435|838436|838437|838438|852350|867933|867934|867935|867936|867937|867938|867939|867940|867941|867942|867943|867944|867945|867946|867947|867948|867949|867950|867951|867952|867953|867954|867955|867956|867957|867958|868648|906203|919362|926239|926240|926241|926242|926243|926244|926245|926246|935533|935534|935535|935536|935537|935538|935539|935540|935541|935542|935543|935544|935545|940213|940997|947454|947455|947456|947457|947458|956494|956495|956496|959988|959989|960751|962988|970935|971619|971620|980556", + "text": "Multiple exostoses type 2" + }, + { + "baseId": "17511|17513|137944|137954|137957|326466|538422|564633|626205|626395|805097", + "text": "Seizures, scoliosis, and macrocephaly syndrome" + }, + { + "baseId": 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+ "text": "Charcot-Marie-Tooth disease, type 4C" + }, + { + "baseId": 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+ "text": "Mononeuropathy of the median nerve, mild" + }, + { + "baseId": "17521|231645|620191|620192", + "text": "SH3TC2-Related Disorders" + }, + { + "baseId": "17525|17526|21701|390020|453117|453122|453375|453378|453487|453492|453497|453867|453869|461407|461409|461410|461412|461577|461585|461586|461914|461917|461920|461921|461924|462247|486807|486809|519864|519865|519866|519867|519877|520103|520113|520155|520156|520157|526424|526426|526454|526733|526735|526972|526975|526978|526980|526984|526986|559649|559651|559810|559812|559814|561984|563342|564866|566727|567479|570909|570910|570911|614366|632125|632126|632127|632128|632129|632130|632131|632132|632133|632134|632135|632136|632137|632138|640373|640374|640375|640376|640377|640378|640379|640380|640381|640382|640383|640384|640385|640386|640387|640388|640389|651184|652131|652386|709271|709272|713100|713101|713102|713103|713104|720876|720877|720879|724670|724672|730796|748849|748851|748852|752887|764409|768678|779465|779580|781919|784136|787372|829000|829001|829002|829003|829004|829005|829006|829007|829008|829009|829010|829011|829012|829013|829014|829015|838854|838855|838856|838857|838858|838859|838860|838861|838862|838863|838864|838865|838866|838867|838868|838869|851455|923480|923481|923482|926362|926363|926364|932262|932263|932264|932265|935729|935730|935731|935732|940232|941011|943919|943920|943921|943922|943923|943924|943925|943926|947609|947610|947611|947612|947613|953737|956619|956620|956621", + "text": "Herpes simplex encephalitis 1" + }, + { + "baseId": 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+ "text": "Primary autosomal recessive microcephaly 3" + }, + { + "baseId": "17529|132593|186205|213137|222431|242092|323041|323046|323047|323048|332653|339619|339635|339640|339641|339645|339646|339651|339659|339666|341010|341018|341019|341025|341026|400788|401074|567216|569033|643456|643457|643458|653063|684550|688463|851629|852065|852602|873955|873956|873957|873958|873959|873960|873961|873962|873963|873964|920347|948958", + "text": "Mast syndrome" + }, + { + "baseId": "17530|333464|333466|333480|333487|333488|333492|333494|333497|333498|333501|333504|333507|333508|333513|343497|343499|343521|343524|343525|343528|343529|343536|343537|343540|343541|343542|343550|343551|343552|343553|343561|343562|343567|343568|343574|343575|343579|343581|343583|343585|343589|343590|343595|348830|348831|348841|348842|348847|348849|348850|348852|348855|348859|348860|348867|348869|348870|348871|349813|349816|349817|349820|349821|349824|349825|349828|349829|349832|349833|349836|349837|508925|716422|716423|728162|731277|731279|756994|779999|880459|880460|880461|880752|881961|881962|881963|881964|881965|881966|881967|881968|881969|881970|881971|881972|881973|881974|881975|881976|881977|881978|881979|881980|881981|881982|881983|881984|881985|881986|881987|881988|881989|881990|881991|881992|881993|881994|881995|881996|881997|881998|881999|882000|882001|882002|882003|882004|882005|882006|882007|882008|882009|882010|882011|882882|882883|882884|882885", + "text": "Cerebellar ataxia, Cayman type" + }, + { + "baseId": "17531|17532|17533|17534|17537|17538|17539|17540|17541|17542|193376|227031|259889|259892|442479|486610|626349|790775|790776", + "text": "Multiple exostoses type 1" + }, + { + "baseId": 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+ "text": "Multiple congenital exostosis" + }, + { + "baseId": "17535|17536|919136|919137|919138", + "text": "Chondrosarcoma" + }, + { + "baseId": 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+ "text": "Retinal cone dystrophy 4" + }, + { + "baseId": "17545|17548|17549|17554|17555|17557|34015|34016|192231|193418|237540|271211|329700|329713|329720|329727|339968|339992|345697|345701|345702|347053|347078|347087|347103|360346|361229|378744|445882|467419|467433|481471|481472|509041|531737|531801|550632|609024|656468|679837|679838|679839|684705|684706|688825|791822|919767|941195|950261|961541|974499", + "text": "Camptomelic dysplasia" + }, + { + "baseId": "17546|17547|17548|17549|17551|17556|17557|550632|679800", + "text": "Campomelic dysplasia with autosomal sex reversal" + }, + { + "baseId": "17550|17552|17553", + "text": "Acampomelic campomelic dysplasia" + }, + { + "baseId": "17558|205228|213534|213969|214752|225861|237528|264070|264091|359408|366251|405534|424642|427982|431458|448529|450177|450179|450180|450185|450188|450196|450199|450203|450206|450220|450227|450237|450358|450384|450386|450396|450399|450401|450402|450407|450470|450473|450479|450480|450484|450487|512805|517486|517500|517507|517573|517574|517581|517604|517607|517617|517767|517770|517773|536032|557808|557853|557855|557859|558074|559025|559027|559031|559518|559520|575476|575477|575478|575479|575480|575481|575482|575483|578963|578998|611461|614079|629258|629259|629260|629261|629262|629263|629264|629265|629266|629267|629269|629270|629271|629272|629273|650908|653808|654117|678936|691005|697231|719509|733065|747146|747147|747149|747154|759104|762766|762770|762772|762774|790147|790148|798492|798493|798494|816443|818181|819095|821872|821873|821874|821875|821876|825541|825543|825544|825546|825547|825549|825550|825551|825552|918725|918726|918727|920170|922504|922505|922507|931067|931068|931070|942539|942540|942541|942542|942543|942544|942545|952875|961505|961594|961595|964189|965919|971378", + "text": "Chromosome 2q32-q33 deletion syndrome" + }, + { + "baseId": "17558|18456|26794|208522|287840|361119|364179|513958|514147|536136|610529|610563|610564|610565|682749|969772", + "text": "Cleft palate" + }, + { + "baseId": "17559|17560|17562|135250|190659|190660|242026|242027|273695|322019|322021|322022|322029|322031|322035|322040|322042|322046|322056|322057|322058|322060|322065|322069|322070|322074|322077|322078|322092|331296|331297|331299|331305|331314|331317|331318|331319|331323|331325|331337|331338|331339|331344|331352|331359|331367|331369|331370|331373|338137|338152|338156|338158|338159|338164|338174|338175|338176|338180|338181|338187|338191|338192|338209|338212|338223|338224|338226|338231|338234|338251|338254|338255|338263|340041|340045|340047|340048|340051|340064|340065|340076|340077|340080|340081|340084|340087|340088|340093|340096|374432|376300|400223|400522|400535|464795|528585|528610|528613|529025|529027|529030|566862|566884|573112|573131|642988|642989|642990|642991|642992|652370|652376|652635|684530|688385|688386|688387|784850|842078|842079|873073|873074|873075|873076|873077|873078|873079|873080|873081|873082|873083|873084|873085|873086|873087|873088|873089|873090|873091|873092|873093|873094|873095|873096|873097|873098|873099|873100|873101|873102|873103|873104|873105|873106|873107|873108|873109|873110|873111|873112|873113|873114|873115|873116|873117|873118|873119|873120|873121|920340|927255|927256|927257|971007", + "text": "Hereditary spastic paraplegia 6" + }, + { + "baseId": "17563|17564|626009|919214|964324", + "text": "Hypogonadotropic hypogonadism 9 with or without anosmia" + }, + { + "baseId": "17565|361190|433365|433367|446856|508828|508829|508830|508831|508832|512831|512832|512833|581867|609686|609687|622388|711437|736565|779296|799527|799528|800400|919144|919145|981617", + "text": "Slowed nerve conduction velocity, autosomal dominant" + }, + { + "baseId": "17566", + "text": "Osteoarthritis susceptibility 3" + }, + { + "baseId": "17566", + "text": "Lumbar disc degeneration, susceptibility to" + }, + { + "baseId": "17567|17568|17569|17570|106485|193760|193761|213126|213127|255107|255108|255110|255111|255112|321695|321697|321698|321699|330950|330955|337690|337695|337703|337704|337713|337714|337715|339735|339744|409164|429604|528800|528800|792793|872866|872867|872868|872869|872870|872871|872872|872873|872874|872875|872876|872877|872878|872879|906262|962738|962854", + "text": "Bardet-Biedl syndrome 8" + }, + { + "baseId": "17569", + "text": "Postaxial foot polydactyly" + }, + { + "baseId": "17569|203766|225810|225811|225812|264781|404617|418811|418812|495314|514021|514169|514201|581713|678050|801160|858423|858424|921259|921448", + "text": "Intellectual disability, moderate" + }, + { + "baseId": "17569|181431", + "text": "Truncal obesity" + }, + { + "baseId": "17569|17571|236865|409164|528800|792793|919549", + "text": "Retinitis pigmentosa 51" + }, + { + "baseId": "17572|17573", + "text": "Pseudoxanthoma elasticum, modifier of severity of" + }, + { + "baseId": "17572|204220|204221|538930|792806|963075", + "text": "Spondyloocular syndrome, autosomal recessive" + }, + { + "baseId": "17574|39658|39659|205671|205672|207011|221315|221316|221319|238964|238966|238969|250750|250752|250753|286877|286883|287620|287621|287622|287624|287626|290403|290416|393035|393060|393070|393231|393432|451729|518635|614248|614249|799093|799094|826856|885234|885235|885236|885237|885238|885239|885240|885241|885242|885243|885244|885245|885246|885247|885248|885249|885250|885251|918140|918141", + "text": "Fanconi anemia, complementation group L" + }, + { + "baseId": "17575|17576|142555|142556|142557|142560|142561|142562|209411|211583|211585|211588|211592|211593|211595|211596|223670|316359|316361|316368|316369|316377|323782|323783|323785|323787|323788|329881|329891|329892|329899|331160|331182|331184|331188|331191|331192|372891|374660|389202|503924|578498|609823|679710|713438|738546|753202|768943|768946|768947|768948|768949|768950|768951|784306|869538|869539|869540|869541|869542|869543|869544|869545|869546|869547|869548|869549|869550|869551|869552|872208", + "text": "Myopathy, lactic acidosis, and sideroblastic anemia 1" + }, + { + "baseId": "17577|17577|17578|17578|17579|17579|17581|17581|17582|17583|17584|17586|17586|17587|17587|17588|17588|17589|17589|17590|17591|17592|17593|17595|17596|45159|45160|45160|45161|45161|45162|45163|45164|45165|45166|45167|45168|45169|45169|45170|45171|45172|45173|45174|45175|45176|45177|45178|45178|70784|70785|70786|70787|70788|70789|70790|70791|70792|102885|103317|103318|103319|103320|103321|103322|103323|103324|103325|103326|103327|103328|103329|103330|103331|103332|103333|103333|103334|103335|103336|103337|103338|103339|103340|103341|103342|103343|103344|103345|103346|103347|103348|103349|103350|103351|103352|103353|103354|103355|103356|103357|103358|103359|103359|103360|103361|103362|103363|103364|103365|103366|103367|103368|103369|103370|103370|103371|103372|103373|103374|103375|103376|103377|103378|103379|103381|103382|103383|103384|103385|103386|103387|103388|103389|103390|103391|103392|103393|103394|103395|103396|103397|103398|103399|103400|103401|103402|103403|103404|103405|103406|103407|103407|103408|103409|103410|103411|103412|103413|103414|103415|103416|103417|103418|103419|103420|103421|103422|103423|103424|103425|103426|103427|103428|103429|103429|103430|103431|103432|103433|103434|103435|103436|103437|103438|103439|103440|103440|103441|103442|103443|103444|103445|103446|103447|103448|103449|103449|103784|136621|136622|136623|141909|141910|141911|170203|170212|170936|190090|192212|225792|225793|225794|231932|231934|231937|231938|231944|231947|231950|231951|231955|231956|247431|255706|264707|264709|267205|274103|325214|325218|325222|325223|325229|325234|325237|325247|325253|334864|334876|334878|334885|334887|334896|334898|334902|334908|341340|341344|341346|341347|341348|341349|341352|341356|341358|342837|342840|342842|342854|342855|342857|342859|342860|342863|354189|377549|377552|433685|438802|439142|445574|465658|465666|466376|466378|466403|466405|466408|466414|466416|466641|487783|487887|487909|487914|505624|505624|529935|530013|530020|530022|530253|530255|530454|530455|530457|530464|568107|568109|570143|570263|570264|570266|570272|570273|610025|614423|620539|621536|621542|644624|644625|644626|644627|644628|644629|644630|644630|644631|644632|644633|644634|644635|644636|644637|644638|644639|644640|656373|693851|695692|740173|740174|755155|755156|755157|755159|755160|770887|770888|770890|770891|770892|770894|770895|785270|785271|791588|791589|791590|791591|791592|791593|791594|791595|791596|791597|791598|791599|791600|791601|791602|791603|791604|799955|816337|820826|843777|843778|843779|843780|843781|843782|843783|843784|843785|843786|843787|843788|843789|843790|843791|843792|843793|843794|875193|875194|875195|875196|875197|875198|875199|875200|875201|875202|875203|875204|875205|875206|875207|875208|875209|875210|875211|875212|875213|875214|875215|875216|906319|906320|927786|927787|927788|927789|927790|927791|937418|937419|937420|937421|937422|937423|937424|941134|949377|949378|949379|957740|957741|957742|957743|957744|957745|957746|957747|957748|975887|979763|979764|979765|979766|979767", + "text": "Familial Mediterranean fever" + }, + { + "baseId": "17577|19210|23852|30440|30441|30475|30477|30486|30489|30493|30496|30508|31397|44949|46491|46545|46655|46771|48386|65797|66620|66924|71274|99659|102757|168250|181388|181429|195294|208964|210535|210979|214099|229443|263189|263222|263229|263230|263235|263287|263308|263392|263400|360834|360847|360848|360869|360902|360932|360958|361044|361096|377906|380597|426433|430720|472097|511931|514001|514046|514098|514157|514171|514189|514191|514202|514203|514207|534684|568718|580883|590050|590062|614501|614502|614503|614504|672020|679684|919573", + "text": "9 conditions" + }, + { + "baseId": "17577|17577|17578|17578|17579|17579|17581|17581|17582|17586|17587|17588|17589|17589|17595|17596|45160|45161|45169|45178|45178|50062|103333|103359|103370|103406|103407|103429|103440|103449|103784|465667|487887|505624|614423|644625|644630|816337|843784|975887", + "text": "Familial mediterranean fever, autosomal dominant" + }, + { + "baseId": "17577|45168|45169|103433|905840", + "text": "Acute febrile neutrophilic dermatosis" + }, + { + "baseId": "17586|23034|54002|150126|150127|150128|150129|150130|176733|229300|489148|536059|540582|551288|805098|905852|905853|905854|966698|966714|966715|966716|966717|966718|966719|966723|966724|966735|966737|980653|980681|980690|983684|983686|983687", + "text": "Heart, malformation of" + }, + { + "baseId": "17586|58297|514037|611473|677257", + "text": "Renal insufficiency" + }, + { + "baseId": "17597|17598|17599|17600|17601|17602|101982|101986|101987|177137|196065|215439|247064|268878|268878|315260|315262|315263|315264|315271|322096|322115|328185|328186|328189|328190|329454|329464|329466|329468|329469|329482|374348|482005|526783|640469|687825|693115|724751|724752|738309|738311|752993|839087|851461|868843|868844|868845|868846|868847|868848|868849|919394|935820|947704", + "text": "ALG8-CDG" + }, + { + "baseId": "17603|17604|17605|17606|17607|17608|17609|17610|71164|71165|71166|71167|71168|71169|71171|71172|71173|71174|71175|71176|71177|71178|71179|71180|71181|71182|71183|71184|71185|71186|101295|101297|134227|134228|134229|134230|134231|134232|134233|140496|140497|177145|181190|186913|188052|190506|193599|198634|202762|202766|202767|202773|202775|202776|202777|202778|202781|202782|202783|202784|202785|202787|202792|226244|241763|269249|320006|320007|320010|320014|320016|328567|328568|328571|328572|328578|335053|335056|336965|336972|358244|358245|358246|358247|358248|358249|360008|399578|399590|409046|429511|445158|445159|463956|505225|513214|536865|547098|547116|547117|547122|547256|547258|547268|547271|547412|547413|547417|547424|547426|547428|547430|547765|547768|547772|547777|547793|547795|566180|567743|568635|572584|612303|622421|623159|626224|642059|642060|642064|688184|693396|801722|841007|871476|871477|871478|871479|871480|871481|871482|871483|871484|871485|871486|871487|871488|871489|871490|871491|871492|871493|917517|979418|979419|979420|979421|979422", + "text": "Neuronal ceroid lipofuscinosis 5" + }, + { + "baseId": 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+ "text": "Neuronal ceroid lipofuscinosis" + }, + { + "baseId": "17611|133551|133552|133553|133554|133556|133558|133568|133570|133571|133572|136494|139712|139723|139726|180159|180161|212379|212380|292715|292720|292725|292728|292729|292731|292738|292739|292746|292747|292761|292763|292773|294083|294084|294085|294087|294105|294106|294117|294118|294119|294121|294124|294126|297523|297524|297542|297544|297545|297548|297571|297574|297575|297578|297579|297586|297623|297624|297625|297634|297635|297636|297638|297657|297658|297659|297662|297665|297668|297683|389590|389616|795558|890388|890389|890390|890391|890392|890393|890394|890395|890396|890397|890398|890399|890400|890401|890402|890403|890404|890405|890406|890407|890408|890409|890410|890411|890412|890413|890414|890415|890416|890417|890418|890419|890420|890421|890422|891769|891770", + "text": "Pancreatic cancer 1" + }, + { + "baseId": 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+ "text": "Pancreatic adenocarcinoma" + }, + { + "baseId": "17612", + "text": "APOLIPOPROTEIN C-II (AFRICAN)" + }, + { + "baseId": "17612|17613|17614|17615|17616|17617|17618|17619|17620|17621|17622|17623|333740|333752|343711|343712|343714|343716|349061|349063|349064|349069|349950|349951|349953|349956|622464|779910|882114|882115|882116|882117|882118|882905", + "text": "Apolipoprotein C2 deficiency" + }, + { + "baseId": "17613", + "text": "APOLIPOPROTEIN C-II (PADOVA)" + }, + { + "baseId": "17614", + "text": "APOLIPOPROTEIN C-II (ST. MICHAEL)" + }, + { + "baseId": "17615", + "text": "APOLIPOPROTEIN C-II (TORONTO)" + }, + { + "baseId": "17616", + "text": "APOLIPOPROTEIN C-II (HAMBURG)" + }, + { + "baseId": "17617", + "text": "APOLIPOPROTEIN C-II (NIJMEGEN)" + }, + { + "baseId": "17618", + "text": "APOLIPOPROTEIN C-II (PARIS)" + }, + { + "baseId": "17619", + "text": "APOLIPOPROTEIN C-II (BARI)" + }, + { + "baseId": "17620", + "text": "Apolipoprotein c-ii variant" + }, + { + "baseId": "17621", + "text": "APOLIPOPROTEIN C-II (SAN FRANCISCO)" + }, + { + "baseId": "17622", + "text": "APOLIPOPROTEIN C-II (WAKAYAMA)" + }, + { + "baseId": "17623", + "text": "APOLIPOPROTEIN C-II (AUCKLAND)" + }, + { + "baseId": "17625|17626|17627|17628|17629|17630|17631", + "text": "Epilepsy, progressive myoclonic 2b" + }, + { + "baseId": "17625|17626|17627|17630|18137|18138|18139|18140|18141|18145|18146|101205|134449|134451|135212|135213|142225|172293|172294|176972|190490|190682|201931|201943|201949|201950|201951|201953|201954|201956|201957|201958|201959|201960|201961|201965|201968|264259|273612|299623|299625|299626|299631|302191|302192|302197|302202|302206|302222|302223|306566|306575|306576|306579|306580|306581|306586|306593|306594|306603|306608|306610|306863|306873|306876|306878|370201|395081|395082|395084|395687|415037|443935|455536|455545|455553|456282|501254|522169|522178|522182|560505|560662|560664|560666|563488|565537|579396|614298|634776|634777|634778|634779|634780|634781|634782|655727|686817|735549|765596|801990|802161|831750|831751|831752|831753|831754|831755|831756|831757|831758|895671|895672|895673|895674|895675|895676|895677|895678|895679|919001|924305|924306|924307|924308|933245|933246|933247|933248|933249|933250|933251|933252|933253|933254|944952|944953|954405", + "text": "Lafora disease" + }, + { + "baseId": "17632|17633|17634|17635|17636", + "text": "Glutaric acidemia IIA" + }, + { + "baseId": "17633|27067|27069|31755|40255|40285|40286|98351|98352|99920|100971|100972|100975|140929|140935|140936|140937|140938|140939|177021|177354|177696|191220|192383|196253|200059|200062|200064|200068|200076|200077|200078|200293|200295|200297|200298|200299|200346|200347|200348|200349|200350|200354|200356|200358|226510|226511|226512|226513|226514|226515|226516|226517|226518|237327|237375|259784|260080|268471|292678|292681|292682|294047|294048|297464|297466|297470|297510|297530|297534|323399|333069|333071|333074|333075|333078|333079|339909|339913|341322|341328|361463|367910|367969|369049|373685|406420|414967|422046|425603|453321|453411|453416|453813|453818|453819|465316|465428|469260|470224|471276|500502|500778|501089|513050|519800|519831|520065|520070|520105|533393|533437|559625|563558|563564|563567|563571|569153|569599|569601|572774|581772|581777|582813|620157|620774|632064|632065|632066|632067|632068|632069|632070|632071|632072|632073|632074|632075|643549|643550|643551|643552|643553|648437|651098|651162|651271|652432|660242|689155|714618|716648|720813|728375|730269|734506|764366|764367|764369|764370|764372|764373|764374|778348|781892|781893|781897|785025|785026|785027|785028|787424|787905|788172|788891|788931|789852|790448|790449|790450|790451|790452|820737|828914|828915|828916|828917|828918|828919|828920|828921|828922|828923|828924|828925|828926|828927|828928|842710|842711|848028|850972|852609|874187|874188|874189|874190|874191|874192|876575|876576|876577|890350|890351|890352|890353|890354|890355|890356|890357|890358|890359|890360|890361|890362|891761|891762|891763|906264|919598|923452|923453|923454|923455|927426|932233|932234|932235|938841|939961|940776|943878|943879|943880|943881|953708|953709|953710|953711|953712|953713|953714|957513|958725|958726|959715|978036|978037|978038|978039|978040|978041|978042|978043|978044|978045|978046|978047|978048|978049|978050|978051|978052|978053|978054|978055|978056|978057|978058|979670|979671|979672|979673|979674|979675|979676|979677|979678|979679|979680", + "text": "Multiple acyl-CoA dehydrogenase deficiency" + }, + { + "baseId": "17637|17638|17639|17640|17641|17642|17643|48108|205741|205742|260936|264207|294464|294465|294480|294482|294483|294484|294488|294490|294491|295946|295947|295968|295969|295972|295975|295983|295992|295993|295994|299686|299693|299697|299699|299700|299701|299703|299704|299709|299713|299718|299724|299726|299727|406466|440043|612351|734738|764624|792751|801535|892339|892340|892341|892342|892343|892344|892345|892346|892347|892348|892349|892350|892351|892352|892353|892354|892355|892356|892357|892358|892359|892360|892361|892362|892363|892364|892365|892366|892367|892368|892369|892370|892371|892372|892373|892374|892375|892376|892377|892378|892379|892380|892381|892382|892383|892384|892385|892386|892387|892388|892389|892390|892391|892392|892393|892394|892395|892396|892397|892398|892399|892400|892401|892402|892403|892404|892405|892406|892407|892408|892409|892410|892411|892412|892413|892414|892415|892416|892417|892418|892419|892420|892421|892422|892423|892424|892425|892426|892427|892428|892429|892430|892431|892432|892433|892434|892435|892436|892437|892438|892439|892440|892441|892442|892443|892444|892445|892446|896003|896004|896005|963134|970211|970212", + "text": "Hyaline fibromatosis syndrome" + }, + { + "baseId": "17644|17645|17646|17647|17648|17649|17650|17651|17652|17653|17654|17655|186961|186962|186963|186964|186965|186966|186967|194782|195198|237185|327991|327995|337825|337828|337832|344085|344086|345473|358411|358412|358413|358414|358415|358416|358417|358418|358419|358420|358421|358422|358423|358424|360237|378116|401919|422161|481084|548018|548020|548022|548032|548037|548040|548041|548044|548045|548046|548049|548050|548052|548054|548066|548294|548299|548311|548314|548316|548322|548327|548771|548773|548779|548782|548787|548806|570780|620582|645790|645791|645792|652804|685056|685057|685061|685063|689587|690165|774284|786943|801730|801731|801732|802216|850362|850364|850365|852848|858699|861141|903659|929848|959384|961033|972270|979887|979888", + "text": "Spongy degeneration of central nervous system" + }, + { + "baseId": "17644|17646|17647|17648|186962|186963|186967|358413|487928|548018|548044|917378", + "text": "Canavan Disease, Familial Form" + }, + { + "baseId": "17655", + "text": "Canavan disease, mild" + }, + { + "baseId": "17656|17657|254428|254429|316163|316164|316165|316167|316168|316170|316172|323445|323447|323449|323450|329662|329667|329668|329670|329674|330835|330842|330848|330851|330858|374613|444932|462442|551463|551464|566364|566364|869371|869372|869373|869374|869375|869376|869377|965284", + "text": "Distal hereditary motor neuronopathy type 2A" + }, + { + "baseId": "17657|17658|212989|212990|241247|241248|254428|254429|316163|316164|316165|316167|316168|316170|316172|323445|323447|323449|323450|329662|329667|329668|329670|329674|330835|330842|330848|330851|330858|374613|444932|461647|462203|462440|462442|526934|527263|551465|565079|565081|565082|566364|566364|566365|566369|566377|566378|566384|567685|571293|576150|640649|640650|640651|640652|640653|684305|793410|799667|839345|839346|839347|839348|839349|839350|839351|869371|869372|869373|869374|869375|869376|869377|920312|926474|926475|926476|935928|935929|947794|947795|947796|956754|956755|956756|956757|961303", + "text": "Charcot-Marie-Tooth disease, type 2L" + }, + { + "baseId": "17659|17660", + "text": "Ezetimibe response" + }, + { + "baseId": "17661|17662|17663|17664|17665|17666|17667|17668|17669|17670|101979|101980|196327|215309|237214|251769|251775|251778|265853|270136|270774|271094|295556|295557|295562|295569|297318|297331|297332|297339|301162|301168|301169|301174|301175|301190|301347|301359|301363|301376|301381|301418|301422|301425|301430|364112|369638|440859|440866|454689|500679|584198|620185|620186|633466|709647|749248|790517|830343|830344|830348|893063|893064|893065|893066|893067|893068|893069|893070|893075|896042|932726|961647|970798", + "text": "Marinesco-Sj\u00f6gren syndrome" + }, + { + "baseId": "17671|17672|17673|17679|102402|102403|102404|102406|102407|177087|177218|177881|177886|186010|190668|192584|192945|193157|195042|207045|212289|215270|221365|221366|239108|250930|250931|250936|250946|250950|250953|268559|270942|273792|275290|275431|288781|288784|288792|288793|288802|288805|288807|288813|288820|289574|289575|289585|289586|289587|289588|289589|289590|289597|292578|292579|292580|292581|292585|292755|292758|292781|292783|292785|292787|292788|292790|292793|292795|292795|292798|368222|390680|424264|443365|489298|492320|518899|558822|582572|583256|620105|620753|622874|630956|683540|788760|800916|800917|827553|888002|888003|888004|888005|888006|888007|888008|888009|888010|888011|888012|888013|888014|888015|888016|888017|891569|891570|891571|906236|962695|962696|962697", + "text": "Nephronophthisis 3" + }, + { + "baseId": "17673|17675|102402|102403|102404|102406|102407|177087|177218|177881|177886|186010|190668|192945|193157|195042|207045|212289|215270|221365|221366|239108|250930|250931|250936|250946|250950|250953|268559|270942|273792|275290|275431|288781|288784|288792|288793|288802|288805|288807|288813|288820|289574|289575|289585|289586|289587|289588|289589|289590|289597|292578|292579|292580|292581|292585|292755|292758|292781|292783|292785|292787|292788|292790|292793|292795|292795|292798|368222|443365|489298|492320|518899|583256|681804|681805|683540|827553|888002|888003|888004|888005|888006|888007|888008|888009|888010|888011|888012|888013|888014|888015|888016|888017|891569|891570|891571|920187", + "text": "Meckel syndrome type 7" + }, + { + "baseId": "17676|17677|17678|102402|102403|102404|102406|102407|177087|177218|177881|177886|186010|190668|192945|193157|195042|207045|212289|215270|221365|221366|239108|250930|250931|250936|250938|250946|250950|250953|268559|268882|270942|273792|275290|275342|275431|288781|288784|288792|288793|288796|288802|288805|288807|288813|288814|288820|288821|289574|289575|289582|289585|289586|289587|289588|289589|289590|289597|292578|292579|292580|292581|292582|292583|292584|292585|292586|292755|292758|292781|292783|292784|292785|292787|292788|292789|292790|292793|292795|292795|292796|292798|368222|443365|489298|492320|518899|583256|683540|790334|827553|888002|888003|888004|888005|888006|888007|888008|888009|888010|888011|888012|888013|888014|888015|888016|888017|891569|891570|891571", + "text": "Renal-hepatic-pancreatic dysplasia 1" + }, + { + "baseId": "17680|17681|17682|17682|17683|17683|17684|17685|17686|17686|17687|17688|79626|79627|79628|79629|79630|79631|79632|79633|79634|79635|79636|79637|79638|79639|79640|79641|79642|98791|98791|98792|136051|136052|136053|136054|136055|136056|141401|141404|141405|141406|141407|186833|186834|186835|190746|190746|191332|193424|194825|195237|195886|202558|202559|202559|202566|202567|202569|202569|202573|202575|202576|202577|202578|202579|202579|202581|202584|202586|202587|202588|202591|202591|202592|202592|202593|202594|202595|202601|202603|202603|202605|202607|215044|222994|243904|243905|264493|264631|314695|314700|314702|314710|321386|321396|321397|321424|321428|327528|327552|327555|327556|327564|328593|328597|328601|328604|328609|328610|328621|328622|358020|358021|358022|358023|358024|358025|358026|358027|358028|358029|358030|371610|398765|398896|408426|415291|441433|461540|462234|481494|487317|493093|503368|513604|546125|546128|546135|546136|546138|546140|546410|546414|546416|546427|546434|546441|546447|546449|546450|546571|546574|546576|546578|546776|546786|546789|546791|550201|550221|552152|566073|567467|576142|579711|590164|610532|640341|640350|640356|687815|816322|838800|838801|868314|868315|868316|868317|868318|868319|868320|868321|868322|868323|868324|868325|868326|868327|868328|868329|868330|868331|868332|868674|947593|962864|970941|979048|979049|979050|979051|979052|979053|979054|979055|979056|979057|983741|983742", + "text": "Ceroid lipofuscinosis neuronal 2" + }, + { + "baseId": "17682|17683|17683|17686|79630|94620|98791|190746|202559|202566|202569|202579|202591|202592|202603|227507|576142|610532|816322|964036", + "text": "Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia" + }, + { + "baseId": "17689|17690|17691|17692|17693|214774|227204|249533|272403|277359|277360|277362|277370|277372|277379|277380|277394|277395|277396|277398|277560|277561|277567|277569|277576|277577|277578|277579|277588|277590|277591|278412|278430|278433|278436|278437|278439|278441|278443|278444|278445|278447|278449|278455|278456|278459|513497|612253|619967|619968|706868|788730|792712|805072|862776|862777|862778|862779|862780|862781|862782|862783|862784|865033|918580", + "text": "Geroderma osteodysplastica" + }, + { + "baseId": "17694|349793|800170", + "text": "Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis" + }, + { + "baseId": "17695|17696|17697|17698|17699|17700|17701|40301|102540|191301|191847|192793|207477|212584|212585|214072|237291|240081|252796|252801|252802|252803|252804|252806|252807|252809|252810|252811|252812|252813|260446|260787|302812|302813|302835|302840|302842|302846|302850|302853|302856|302857|302859|306173|306176|306177|306180|306183|306185|306186|306187|306189|306191|306193|306194|310925|310927|310932|310933|310934|310936|311127|311131|311136|311175|311177|311181|369720|369721|456709|512824|513580|620261|683889|683890|685219|687047|788815|790719|833582|861628|861629|898007|898008|898009|898010|898011|898012|898013|898014|898015|898016|898017|898018|898019|898020|898021|898022|898023|898024|898025|898026|898027|900357|900358|963359|970857|970858", + "text": "Bardet-Biedl syndrome 9" + }, + { + "baseId": "17702|17703|17704|17705|17706|17707|17708|17709|17710|17711|17712|17713|17714|17715|17716|17717|17718|39646|102450|102451|102452|227720|251140|251147|290330|290341|290464|290465|290467|291198|291199|291208|291210|291214|291215|291216|291220|291221|291353|291354|291358|294472|294474|294475|294476|294477|294485|294486|294494|294572|294580|294582|294590|294887|294891|294907|294908|294909|294919|294928|294930|294933|295012|295013|295020|295021|295024|295028|295029|357324|406308|452640|481480|486318|542981|543229|549554|631448|631449|631450|631451|651045|651114|651199|698100|708864|720450|720451|734070|734072|748272|748273|748274|748275|763906|774817|781676|781681|781682|819399|819400|819401|819402|819403|819404|819405|828180|828181|828182|851053|888909|888910|888911|888912|888913|888914|888915|888916|888917|888918|888919|888920|888921|888922|888923|888924|888925|888926|888927|888928|888965|888966|888967|888968|888969|888970|888971|888972|891646|891647|903522|916913|916914|953491|953492|959698|960511|975778|977839|977840|977841|977842|977843", + "text": "Multiple sulfatase deficiency" + }, + { + "baseId": "17719|17720|17722|17723|17724|17725|17727|39645|190627|247409|252887|252890|252892|252893|252895|252896|418982|418985|418986|418988|418990|418991|418996|418999|441131|456738|456743|456824|457171|457783|512825|553154|561954|561958|563857|566876|577000|577001|581314|581318|581330|581333|581334|609662|636170|636171|636172|636173|651809|687054|687055|687056|689871|695363|736154|799511|819876|833621|833622|833623|833624|833625|861568|924857|924858|959857|963148", + "text": "Cerebral cavernous malformations 2" + }, + { + "baseId": "17728|54806|54807|54809|54812|54813|54814|54815|54817|54819|54820|54823|54825|54826|54828|54829|54829|54830|54831|54834|54836|54837|54838|54839|54840|54841|54842|54845|54846|165839|174126|174265|174543|174545|174546|174684|174824|190881|191257|199790|204465|229648|229651|229654|272116|273159|273252|306539|306540|306544|306553|306555|306558|306561|306562|310735|310737|310738|310740|310755|310756|310758|310763|310769|316101|316102|316104|316105|316118|316119|316125|316127|316132|316135|316136|316473|316474|316482|316486|316489|316491|316497|316498|316505|316506|316508|316509|497050|497111|584172|615804|654527|799561|900881|900882|900883|900884|900885|900886|900887|900888|900889|900890|900891|900892|900893|900894|900895|900896|900897|900898|900899|900900|900901|900902|900903|900904|900905|900906|900907|900908|900909|900910|900911|900912|900913|900914|900915|900916|900917|903301|903302", + "text": "Deafness, autosomal recessive 31" + }, + { + "baseId": 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"17731|17732|17733|17734|17735|17736|21672|21673|21674|21675|48036", + "text": "p phenotype" + }, + { + "baseId": "17738|17738|17739|102132|177392|190637|237332|253660|259932|309157|313891|313896|313898|319780|320305|320319|371461|371463|371470|373256|459538|459792|460007|460010|460012|460436|524859|525094|525099|525403|525405|563486|563486|563489|563490|564387|564389|564399|569388|569394|626192|638641|638642|638643|638644|638645|638646|638647|638648|638649|638650|638651|638652|692755|692756|692757|712107|751889|767582|767585|783514|836507|836508|836509|903563|906083|925713|925714|925715|925716|925717|925718|934902|934903|934904|934905|934906|934907|934908|946766|955951|955952|955953|955954", + "text": "ALG2-CDG" + }, + { + "baseId": "17738|102132|177392|181169|181170|190637|237332|253660|259932|309157|313891|313896|313898|319780|320305|320319|371461|371463|371470|373256|459538|459792|460007|460010|460012|460436|524859|525094|525099|525403|525405|563486|563489|563490|564387|564389|564399|569388|569394|626192|638641|638642|638643|638644|638645|638646|638647|638648|638649|638650|638651|638652|692755|692756|692757|712107|751889|767582|767585|783514|836507|836508|836509|906083|925713|925714|925715|925716|925717|925718|934902|934903|934904|934905|934906|934907|934908|946766|955951|955952|955953|955954|980210", + "text": "Myasthenic syndrome, congenital, 14" + }, + { + "baseId": "17740|17741|17742|101900|101905|101910|101912|264606|363702|409441|439884|465526|465674|465693|465717|465730|465748|465849|508885|529308|529327|529389|529623|538450|538451|569498|569533|569879|569931|785114", + "text": "Epilepsy, childhood absence 6" + }, + { + "baseId": 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+ "text": "Idiopathic generalized epilepsy" + }, + { + "baseId": 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+ "text": "Hyperaldosteronism, familial, type IV" + }, + { + "baseId": "17744|17745", + "text": "Epilepsy, idiopathic generalized 6" + }, + { + "baseId": "17747|17748|17749|17750|17751|39644|40201|190909|191727|191728|192548|192549|194520|271610|273897|404803|461255|461445|461448|488701|512851|526321|526357|526360|526362|526570|526836|526847|526848|526849|564793|564795|565944|565945|565948|565955|567407|570766|570767|614361|614362|614363|640236|640237|640238|640239|640240|640241|640242|640243|640244|640245|640246|640247|652554|701856|712988|724554|724555|724556|724557|724558|724559|730779|730780|738093|744726|752757|760075|760079|768545|775860|779700|784051|838679|838680|838681|838682|838683|838684|838685|838686|838687|838688|838689|838690|838691|838692|838693|838694|926311|926312|926313|926314|935650|935651|935652|935653|935654|935655|935656|935657|941004|947552|947553|947554|947555|947556|947557|947558|960001|960753", + "text": "Leukocyte adhesion deficiency, type III" + }, + { + "baseId": 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+ "text": "Kindler's syndrome" + }, + { + "baseId": "17758|17759|17760|17761|17762|17763|17764|17765|237228|331112|331113|331116|331120|331122|331124|331134|331139|331141|331145|331147|331151|341360|341368|341369|341372|341374|341376|341377|341379|341383|341386|341393|341394|341395|341402|341403|341405|341413|341414|346881|346884|346892|346896|346897|346900|346902|346903|348145|348146|348150|348151|348154|348157|348159|348161|348163|348164|348166|348168|348170|348171|348172|348173|576181|620618|620619|704575|715937|715938|715939|715940|727695|727696|727697|727700|741336|741338|879113|879114|879115|879116|879117|879118|879119|879120|879121|879122|879123|879124|879125|879126|879127|879128|879129|879130|879131|879132|879133|879134|879135|879136|879137|879138|879139|880648|880649|880650|880651", + "text": "Hypotrichosis 6" + }, + { + "baseId": "17766|17767|17768|17769|17770|17771|17772|17773|17774|17775|17776|17777|17778|17779|17788|28209|28212|104576|104580|104603|104607|105565|105567|105569|105571|105573|105574|105575|105580|105582|105598|105616|105621|105624|105624|105625|105628|105632|105641|105644|105653|105655|105658|171760|177398|177522|190829|190830|259990|273553|291539|314401|314403|314405|314406|314422|314440|321031|321035|321036|321037|321044|321045|321046|321067|321070|327121|327122|327129|327135|327145|327146|327159|327160|327164|327166|327167|327195|328206|328207|328208|328209|328210|372472|432105|432200|437896|488171|535223|535224|535225|538935|550222|612093|612292|620407|623870|623871|623872|623873|623874|623875|791145|800516|800565|800566|800567|800569|801355|801390|801402|801427|801428|856446|856460|868173|868174|868175|868176|868177|868178|868179|868180|868665|919370|919371|919372|919373|943224|962009|962018", + "text": "Vitelliform macular dystrophy type 2" + }, + { + "baseId": "17779|17780|17781|17782|102552|105614|105615|105624|408395|418961|497622|513092|513093|513094|513095|590304|818292", + "text": "Bestrophinopathy, autosomal recessive" + }, + { + "baseId": "17779|18401|22919|22923|22924|22942|22952|101232|101480|101481|104927|104930|104931|104938|104954|104974|104990|105042|105058|105068|105082|105135|105147|105160|105200|105279|105285|105296|105297|105302|105329|105330|105332|105333|105337|105343|105380|105381|105383|105387|105565|105569|105571|105573|105575|105678|105685|105686|105690|105695|105697|139937|139938|139942|139944|152793|172769|177019|177056|177282|177450|177472|177923|190742|190829|190830|191153|191424|191525|192532|193625|193777|194353|194617|195036|196223|237686|237695|237696|237704|249423|250031|250033|255338|256338|265947|266046|267623|267624|268054|271417|276617|276618|276621|276622|276623|276624|276625|276627|276628|276629|276630|276631|276634|276635|276881|276882|276883|276888|276892|276893|276894|277463|277475|277477|277478|277540|277541|277551|277559|277562|278313|278929|278958|279100|279548|279565|280392|280397|280424|280712|280725|281153|281326|281328|281329|281332|281340|281341|281342|281346|281351|281359|281361|281367|281368|281373|281375|281378|281381|281972|281973|281986|281988|281995|281996|282000|282001|282006|282031|282032|282043|282148|282154|282159|282951|283241|283246|283260|283261|283265|283266|283281|283282|283286|283290|283291|283298|283299|283386|283388|283391|283392|283399|283400|283402|283415|283422|283423|283434|283437|283438|283441|283442|283447|283587|283765|283784|284121|285910|286007|286017|286032|286033|286044|286409|286686|286921|286935|287717|287855|287885|287887|287942|287951|288619|288859|289343|289346|290094|291462|291493|291494|291495|291496|291651|291665|291677|292542|292592|292712|293468|293469|293947|293974|294863|295405|296247|296248|296253|296450|296459|296467|297351|297355|297385|297388|297538|297540|297567|298532|298533|298537|298539|298544|298556|298639|298693|299220|300866|300868|300870|300876|300883|300885|300886|300888|300901|301039|301122|301128|302078|302103|302117|302132|302167|302350|302355|302390|302595|303842|303843|305262|305263|305276|305428|305438|305439|305455|305459|305460|305462|305465|305468|305534|305546|305583|305594|305661|307247|308474|308490|308521|308528|310098|310128|310374|314401|314405|314406|314422|314440|315482|321021|321023|321024|321027|321031|321035|321046|321067|321070|322171|322175|323008|323250|323251|323259|323260|323266|323267|323270|323277|323283|323284|323473|325962|325963|325972|326042|327121|327122|327129|327164|327167|327195|328206|328209|328210|329401|329412|329414|329418|329421|329426|329430|329440|329441|329442|329443|329444|329449|329455|330117|330120|330122|330123|332935|332936|332942|332943|332946|332951|332952|332960|332962|332965|332968|333163|335089|335709|335712|335720|336631|336633|336639|336640|336642|338598|338600|338603|339690|339707|339715|339719|339722|339724|339732|339733|339736|339737|339740|339742|339743|339806|339813|339814|339821|339823|340826|341239|341242|341243|341247|341248|341375|342032|342035|343539|345426|345432|345436|345437|345443|345449|345454|345456|345458|345462|345465|345466|346151|346447|346798|346799|346800|346801|346803|346805|346816|346818|346819|347440|347441|347780|353063|353346|353347|353348|353349|353350|353450|353451|353549|725770|794254|872095|872098|872100", + "text": "Retinitis Pigmentosa, Recessive" + }, + { + "baseId": "17779|17783|17785|17790|105565|105567|105569|105571|105573|105574|105575|105580|105582|105615|105616|105621|105624|105632|177522|190829|190830|273553|314401|314403|314405|314406|314422|314440|321031|321035|321036|321037|321044|321045|321046|321067|321070|327121|327122|327129|327135|327145|327146|327159|327160|327164|327166|327167|327195|328206|328207|328208|328209|328210|372472|868173|868174|868175|868176|868177|868178|868179|868180|868665", + "text": "Vitreoretinochoroidopathy" + }, + { + "baseId": "17779|20649|22918|22919|22921|22927|22931|22932|22933|22937|22940|22943|22946|22950|22952|28206|28209|28212|28216|28217|28218|28222|98774|98777|104556|104558|104561|104582|104593|104603|104605|104611|104612|104942|104955|104976|105009|105014|105024|105081|105172|105190|105192|105200|105210|105219|105220|105256|105264|105274|105279|105287|105292|105292|105320|105327|105357|152788|177398|190248|192224|237651|237655|237658|237670|237685|237694|267624|273547|405254|406868|406870|413234|413712|431613|431618|431634|431694|431695|511211|543956|551504|612550|623247|623813|623814|623815|623817|623818|623819|623820|623821|623822|623824|623851|623876|623896|623898|623922|623948|623954|623955|623956|623984|623991|624029|624034|672055|672067|672072|691989|790017|794733|800450|800452|800453|800455|800456|800458|800459|800460|800461|800462|800463|800464|800685|800697|801310|801314|801319|801327|801329|801386|801502|831959|856454|856459|856470|905881|933337|940038|945035|945036|962010|962014|962015|962017|962018|962020|962022|962025|962026|962027|962028", + "text": "Stargardt disease" + }, + { + "baseId": "17784", + "text": "Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2" + }, + { + "baseId": "17786|17787|17788|17789|105624", + "text": "Retinitis pigmentosa 50" + }, + { + "baseId": "17791|17795|17796", + "text": "Osteopoikilosis" + }, + { + "baseId": "17792|17793|17796|17797|268449|271611|273660|318314|318315|318320|318322|318328|318329|318330|318332|326356|326358|326359|326362|326364|326365|326372|326373|326387|326388|326389|326390|326391|332644|332652|332656|332662|332663|332676|332677|332680|332681|332682|332686|332688|332691|332694|332699|334243|334258|334259|334273|334275|334277|334278|334282|334284|334298|334299|334306|493084|583118|588792|611979|612097|620456|702470|730881|738829|870315|870316|870317|870318|870319|870320|870321|870322|870323|870324|870325|870326|870327|870328|870329|870330|870331|870332|870333|870334|870335|870336|870337|870338|870339|870340|919464", + "text": "Dermatofibrosis lenticularis disseminata" + }, + { + "baseId": "17794|17798", + "text": "Osteopoikilosis with melorheostosis" + }, + { + "baseId": "17798|17799", + "text": "Dermatofibrosis lenticularis disseminata, isolated" + }, + { + "baseId": "17800", + "text": "Mucolipidosis III alpha/beta, atypical" + }, + { + "baseId": "17800|17801|17803|17803|17807|17807|17808|17808|17810|17810|17812|17812|17813|17813|17814|46972|46972|46973|46975|46976|46988|46988|46990|46991|46992|47620|47620|47621|47622|47623|47623|47624|47625|47625|47629|47631|47632|47632|47634|47636|47637|47638|47638|47641|47643|47644|47652|47653|47656|47658|47660|47661|47661|47662|47662|47663|47664|47665|47668|47674|47674|47676|47677|47677|47678|47681|47682|47684|47685|47686|47689|78998|78998|102012|102013|102015|102016|106602|106603|177007|177007|177753|177753|190902|191427|191428|191429|191950|192537|192690|228217|228217|237191|237191|254386|254387|265256|265256|265257|265257|268432|315728|315729|315732|315734|315736|315737|315739|315740|315740|315743|315743|315746|315746|315752|315752|315753|315764|315766|315771|322722|322723|322724|322744|322745|322746|322747|322756|322758|322763|322763|322771|322771|322774|322809|322809|322824|322824|322825|322825|322836|322837|322837|322841|322841|322842|322843|328856|328861|328863|328864|328865|328865|328879|328879|328880|330054|330063|330075|330096|330100|330107|330107|330109|330113|330113|330116|330124|372495|384451|384452|384453|384454|384455|384456|384457|384458|384459|384460|384462|384463|384464|384465|384466|384467|384468|384469|487318|487325|487325|511952|526633|546531|546535|546537|546540|546549|546554|546560|546561|546566|546750|546752|546753|546774|546779|546782|546788|546799|546876|546878|546885|546887|546888|547081|547083|547085|547086|547097|547099|547108|547118|547120|547121|547126|549690|549691|549693|549693|549698|549698|567619|567642|571167|640580|640581|640582|652195|652278|672258|713281|713282|713282|713283|713283|724837|724838|724839|730818|738383|738386|738386|738387|738387|738389|738390|738391|738392|738392|738393|744704|753040|753041|753042|753045|753046|753047|753048|760131|760137|768855|768856|768857|768858|768859|768860|768861|768862|768863|784247|784248|784249|784250|784253|820438|839240|839241|839242|839243|839244|839245|839246|839247|839248|839249|851474|851927|852422|869059|869060|869061|869062|869063|869064|869065|869066|869067|869068|869069|869070|869071|869072|869073|869074|869075|869076|869077|869078|869079|869080|869081|869082|869083|869084|869085|872172|872173|872174|872175|872176|906154|906155|906156|906157|906158|906159|906160|906161|906162|926444|926445|935896|935897|935898|941017|941018|941019|947765|947766|947767|947768|947769|956731|956732|956733|956734|960770|972162|972163|972164|972165|972166|972167|972168|972169|972170|972171|972172|972173|972174|972175|972176|972177|972178|972179|972180|972181|972182|972183|972184", + "text": "Pseudo-Hurler polydystrophy" + }, + { + "baseId": "17802|17803|17803|17804|17805|17806|17807|17807|17808|17809|17810|17810|17811|17812|17812|17813|17814|46971|46972|46973|46973|46974|46976|46977|46978|46979|46980|46981|46982|46983|46984|46985|46987|46988|46988|46989|46990|46991|46991|46992|46993|47620|47622|47622|47623|47623|47624|47624|47625|47625|47626|47627|47628|47630|47632|47633|47634|47634|47635|47637|47637|47638|47639|47640|47642|47643|47643|47644|47644|47645|47646|47647|47648|47649|47650|47651|47652|47652|47654|47655|47657|47658|47658|47659|47660|47660|47661|47662|47666|47667|47668|47668|47669|47670|47671|47672|47673|47674|47674|47675|47676|47676|47677|47679|47680|47681|47682|47682|47687|47688|47689|47689|47690|47691|47692|47693|47694|47695|49677|49678|49679|49680|49681|76433|78998|78998|102012|102013|102015|102016|106602|177007|177007|177753|177753|190902|191427|191428|191429|191950|192537|192690|228217|228217|237191|237191|254386|254387|254388|265256|265256|265257|265257|268432|268432|315724|315727|315728|315729|315732|315734|315736|315737|315739|315740|315740|315743|315743|315746|315746|315752|315752|315753|315764|315766|315771|322722|322723|322724|322744|322745|322746|322747|322754|322756|322757|322758|322763|322763|322771|322771|322774|322809|322809|322824|322824|322825|322825|322836|322837|322837|322841|322841|322842|322843|328843|328856|328861|328863|328864|328865|328865|328879|328879|328880|330053|330054|330063|330071|330075|330082|330096|330100|330107|330107|330109|330113|330113|330116|330124|372495|384451|384452|384453|384454|384455|384456|384457|384458|384459|384460|384462|384463|384464|384465|384466|384467|384468|384469|487318|487318|487325|487325|513608|526633|546531|546535|546537|546540|546549|546554|546560|546561|546566|546750|546752|546753|546774|546779|546782|546788|546799|546876|546878|546885|546887|546888|547081|547083|547085|547086|547097|547099|547108|547118|547120|547121|547126|549690|549690|549691|549693|549693|549698|549698|567619|567642|567642|571167|571167|589798|612231|623156|640580|640581|640582|640582|652195|652195|652278|713281|713281|713282|713282|713283|713283|724837|724838|724838|724839|730818|730818|738383|738383|738385|738386|738386|738387|738387|738389|738389|738390|738391|738391|738392|738392|738393|744704|744704|753040|753041|753041|753042|753042|753045|753045|753046|753047|753048|760131|760137|768855|768856|768856|768857|768857|768858|768858|768859|768860|768860|768861|768861|768862|768863|768864|784247|784248|784249|784250|784250|784253|791186|801716|801717|820438|839240|839241|839241|839242|839243|839244|839245|839245|839246|839246|839247|839248|839249|851474|851927|852422|852422|869059|869060|869061|869062|869063|869064|869065|869066|869067|869068|869069|869070|869071|869072|869073|869074|869075|869076|869077|869078|869079|869080|869081|869082|869083|869084|869085|872172|872173|872174|872175|872176|906154|906155|906156|906157|906158|906159|906160|906161|906162|926444|926445|935896|935897|935897|935898|941017|941018|941019|947765|947766|947767|947768|947769|956731|956731|956732|956733|956733|956734|960770|963163|970947|972162|972163|972164|972165|972166|972167|972168|972169|972170|972171|972172|972173|972174|972175|972176|972177|972178|972179|972180|972181|972182|972183|972184|979231|979232|979233|979234|979235|979236|979237|979238|979239|979240|979241|979242|979243|979244|979245|979246|979247|979248|979249|979250|979251|979252|979253|979254|980343", + "text": "Mucolipidosis type II" + }, + { + "baseId": "17803|17807|20170|46988|46991|47624|47637|47660|47668|47676|47690|49681|384471|497409|654786|969173", + "text": "Mucolipidosis" + }, + { + "baseId": "17807|17810|47625|619924", + "text": "GNPTAB-Related Disorders" + }, + { + "baseId": "17812|17813|20146|20147|20148|20149|20150|20151|20152|20153|20154|20155|20156|20157|39416|46976|46986|46990|46992|98515|98516|98517|98518|98520|98521|195855|237044|237319|256535|256536|256537|256538|256541|260197|264874|265041|265225|268475|271274|274269|330478|330481|330484|330486|330494|330496|330505|330509|330519|340705|340707|340708|340710|340711|340713|340717|340735|340737|340739|340742|340747|346322|346323|346326|346328|346331|346338|346353|346355|346358|347699|347700|347701|347704|347705|347706|347709|347718|358524|360293|360474|375756|376651|410305|422209|431001|482159|508893|508894|513371|513648|513649|532014|532089|536959|548451|548457|548458|548462|548465|548466|548467|548468|548471|548472|548474|548475|548479|548485|548491|548498|548836|548837|548846|548847|548849|548855|548857|548860|548861|548864|548865|548867|548871|548873|548874|549207|549208|549212|549214|549215|549219|549221|549225|549226|549763|549764|549765|549767|549769|569940|569943|571747|574683|610522|622512|625886|625887|625888|625889|625890|646960|646961|646962|646963|646964|646965|646966|646967|646968|682851|704429|715784|727505|727506|727507|727508|727509|727510|727511|727512|727513|731185|741120|741121|741122|741123|741124|741125|741126|741127|741129|741130|745103|745126|756214|756215|756216|756217|756218|756219|756220|760495|760684|771933|771934|771935|771936|771937|771938|771939|771941|771942|771944|771945|771946|771947|771948|771949|771950|771951|771953|771954|771955|776409|776743|778412|785799|785801|785802|821175|846487|846488|861650|861651|878763|878764|878765|878766|878767|878768|878769|878770|878771|878772|878773|878774|878775|878776|878777|878778|878779|878780|878781|878782|878783|878784|878785|878786|878787|878788|878789|880616|880617|906106|917279|938316|940446|950385|950386|950387|958384|958385|958386|958387|971097|979934|979935|979936", + "text": "Mucopolysaccharidosis, MPS-III-A" + }, + { + "baseId": "17815|17822|17825|17826|17829|17830|17831|17832", + "text": "Glycogen storage disease IV, congenital neuromuscular" + }, + { + "baseId": "17816|17817", + "text": "Glycogen storage disease IV, nonprogressive hepatic" + }, + { + "baseId": "17816|17816|17816|17817|17817|17818|17818|17819|17820|17820|17821|17821|17822|17823|17824|17825|17827|17831|17832|76826|76827|178812|178812|194797|205142|205142|205142|207091|207091|237241|237241|237441|251279|251279|251281|251281|251283|251283|251285|251287|251288|251288|251289|251290|251290|291664|291664|291674|291675|291675|291676|291682|292986|292988|293004|293011|293020|293020|296258|296261|296275|296275|296277|296304|296305|296307|296318|296320|296321|296321|296329|296336|296338|296338|296340|357325|357325|357326|357326|361403|361403|367385|367406|367414|367729|367733|367733|367734|424441|428221|430978|434587|434587|434587|438253|438253|443515|443515|443517|443517|452788|472256|500841|500841|511513|511514|519598|519890|538363|538363|538363|538364|549555|549555|552403|559231|559678|559680|561057|561818|561818|631793|631794|631794|631795|651052|651128|651147|698295|709048|709048|720643|734303|734303|734304|734304|734305|734305|748534|748534|748535|764168|764169|764169|764170|764170|764174|764175|764175|764176|764176|764178|774865|774865|774904|774904|781805|781808|781810|781812|787404|790422|805000|805001|819415|819416|819417|819418|819419|819420|828568|828569|828570|828571|828572|828573|889704|889705|889706|889707|889708|889709|889710|889711|889712|889713|889714|889715|889716|889717|889718|889719|889720|891707|891708|923356|923357|923358|932086|940765|943704|953592|953593|953594|977993|977994|977995|977996|977997|977998|977999|978000|978001|978002", + "text": "Glycogen storage disease, type IV" + }, + { + "baseId": "17816|17817|17821|178812|227045", + "text": "Adult polyglucosan body neuropathy" + }, + { + "baseId": "17816|205142|291664|291672|620137|620768", + "text": "GBE1-Related Disorders" + }, + { + "baseId": "17816|17817|17818|17818|17819|17820|17820|17821|178812|205142|207091|237241|237441|251279|251281|251283|251288|251290|291664|291675|293020|296275|296321|296338|357325|357326|361403|367385|367729|367733|434587|438253|443515|443517|452788|500841|519598|519890|538363|549555|559231|559678|559680|561057|561818|631793|631794|631795|651052|651128|651147|698295|709048|720643|734303|734304|734305|748534|748535|764168|764169|764170|764174|764175|764176|764178|774865|774904|781805|781808|781810|781812|787404|819415|819416|819417|819418|819419|819420|828568|828569|828570|828571|828572|828573|923356|923357|923358|932086|940765|943704|953592|953593|953594", + "text": "Glycogen storage disease IV, classic hepatic" + }, + { + "baseId": "17816|17816|17830|194797|205142|207091|237241|251279|251281|251283|251285|251287|251288|251289|251290|291674|291675|291676|291682|292986|292988|293004|293011|293020|296258|296261|296275|296277|296304|296305|296307|296318|296320|296321|296329|296336|296338|296340|357325|361403|367406|367414|367733|367734|430978|434587|434587|438253|500841|511514|538363|538363|538364|561818|720643|748534|764176|889704|889705|889706|889707|889708|889709|889710|889711|889712|889713|889714|889715|889716|889717|889718|889719|889720|891707|891708", + "text": "Adult polyglucosan body disease" + }, + { + "baseId": "17820|17827", + "text": "Glycogen storage disease IV, childhood neuromuscular" + }, + { + "baseId": "17821|17828", + "text": "Glycogen storage disease IV, combined hepatic and myopathic" + }, + { + "baseId": "17823|17824", + "text": "Glycogen storage disease IV, fatal perinatal neuromuscular" + }, + { + "baseId": "17833|17834|17835|17836|17837|17838|17839|17840|34565|34566|34567|34568|34569|34570|34571|34572|34573|34574|34575|34576|39642|47683|78999|324084|324089|324096|324097|324103|324108|333708|333711|333712|333718|333721|333724|333726|333727|333728|340469|340471|340473|340474|340478|340480|340482|340483|341852|341853|341864|353336|384470|384471|431017|445491|512945|547668|547669|547670|547672|547673|547676|547682|547692|547702|547717|547719|547720|547722|547724|547727|547729|547733|547735|547742|547746|547976|547980|547981|547987|547990|547993|547996|547997|547998|548410|548412|548420|548422|548424|548428|548430|548437|548442|548448|548449|548452|548456|548459|643904|714735|714736|726423|726425|726426|739950|739951|745196|754888|754889|754893|754897|754898|770538|770539|770540|770543|770544|770546|770547|776127|779750|785136|843070|843076|843078|843081|843082|843084|874619|874620|874621|874622|874623|874624|874625|874626|874627|874628|874629|874630|874631|874632|876610|876611|905846|906163|906164|979747|979748|979749|979750|979751|979752|979753|979754|979755|979756|979757|979758|979759", + "text": "Mucolipidosis type III gamma" + }, + { + "baseId": "17841|17843|193654|202217|614318", + "text": "Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant" + }, + { + "baseId": "17841|17842|17843|17843|17845|71342|71343|71344|71345|71346|71347|71348|71349|71350|71351|71352|71353|71354|71355|71356|71357|71358|71359|101820|106601|186761|192506|193654|193654|202200|202206|202207|202209|202213|202217|202217|207537|357629|357630|357631|407357|407358|458656|480573|523713|523977|544401|544403|544404|544689|544692|544695|544698|544700|544702|544720|544744|544745|544748|544749|544753|579373|614318|687252|834527|955381|978455|978456|978457|978458|978459|978460", + "text": "Neuronal ceroid lipofuscinosis 8" + }, + { + "baseId": 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+ "text": "Fraser syndrome 1" + }, + { + "baseId": "17856", + "text": "Uric acid nephrolithiasis, susceptibility to" + }, + { + "baseId": 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+ "text": "Cohen syndrome" + }, + { + "baseId": 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+ "text": "Deficiency of acetyl-CoA acetyltransferase" + }, + { + "baseId": "17886|17887|17888|17889|17890|17891|17892|101840|190588|195397|247333|250819|273022|287702|287703|287706|287710|287712|287713|287714|287718|287720|287730|287739|287741|287745|287749|288407|288417|288422|288423|288427|288429|288430|288433|288434|288435|288436|291248|291250|291262|291270|291280|291282|291283|291284|291287|291292|291394|291400|291417|291428|291429|291432|291444|291445|291447|291453|428105|509046|615923|623272|697709|697710|730166|790304|800477|818218|885713|885714|885715|885716|885717|885718|885719|885720|885721|885722|885723|885724|885725|885726|885727|885728|885729|885730|885731|885732|885733|885734|885735|885736|885737|885738|885739|885740|885741|885742|885743|885744", + "text": "Jalili syndrome" + }, + { + "baseId": "17893|17894|17894|17895|17896|17897|259726|550877", + "text": "Autosomal recessive congenital ichthyosis 4A" + }, + { + "baseId": 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"17900|236997|237008|237067|237268|237450|250545|250546|250548|250550|250551|250552|250553|250554|250555|250556|250557|284587|284588|284596|284598|284605|284608|284611|284612|284614|284617|284627|284629|284635|284636|284639|285285|285286|285289|285290|285293|285297|285300|285301|285302|285304|285307|285308|285309|285310|285313|285314|285320|285323|285326|285327|285328|287460|287462|287463|287464|287465|287471|287472|287473|287474|287477|287478|287483|287487|287488|287673|287675|287676|287677|287678|287697|287704|287715|287723|287724|287725|287729|287731|287732|287733|287734|287735|287736|287737|287740|287742|438190|481459|612594|612595|620057|620058|620741|622232|622233|697296|697297|708002|719581|719582|719589|719590|743855|747256|762881|778924|883675|883676|883677|883678|883679|883680|883681|883682|883683|883684|883685|883686|883687|883688|883689|883690|883691|883692|883693|883694|883695|883696|883697|883698|883699|883700|883701|883702|883703|883704|883705|883706|883707|883708|883709|883710|883711|883712|883713|883714|883715|883716|883717|883718|883719|883720|883721|883722|883723|887262|887263|887264|887265|887266|887267|887268|887269|887270|887271|887272", + "text": "Congenital ichthyosis of skin" + }, + { + "baseId": "17904|17905|17906|17907|17908|17909|17910|17911|286586|286593|286595|286596|286603|286606|286613|286614|286624|286625|286633|286634|286637|286638|287306|287312|287313|287314|287317|287319|287321|287324|287325|287332|287335|287341|287353|287356|287357|287358|287366|289647|289648|289657|289658|289659|289661|289664|289667|289668|289684|289685|290072|290073|290074|290078|290079|290080|290092|290098|290100|290101|290102|290107|290108|290110|290114|290133|290141|290142|788755|885073|885074|885075|885076|885077|885078|885079|885080|885081|885082|885083|885084|885085|885086|885087|885088|885089|885090|885091|885092|885093|885094|885095|885096|885097|885098|885099|885100|885101|885102|885103|885104|885105|885106|885107|885108|885109|885110|885111|885112|885113|885114|885115|885116", + "text": "Factor v and factor viii, combined deficiency of, 2" + }, + { + "baseId": "17904|23101|23102|23103|23104|23105|256704|256705|256707|256708|286640|287359|289645|289646|289694|289695|289719|289722|290093|331983|331985|331997|331998|332005|332013|332016|342208|342210|342211|342217|342218|347566|347568|347572|347576|347584|347591|347592|347593|347599|347600|347604|347607|347608|347609|347610|347613|347617|347618|347623|348942|348948|348953|348955|348956|348960|348963|348964|348965|348968|348971|348973|348974|615328|615604|788955|879556|879557|879558|879559|879560|879561|879562|879563|879564|879565|879566|879567|879568|879569|879570|879571|879572|879573|879574|879575|879576|879577|879578|879579|879580|879581|879582|879583|879584|879585|879586|879587|879588|879589|879590|879591|879592|879593|879594|879595|879596|879597|879598|879599|880670", + "text": "Combined deficiency of factor V and factor VIII, 1" + }, + { + "baseId": 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+ "text": "Familial hypercholesterolemia 3" + }, + { + "baseId": 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+ "text": "Familial hypercholesterolemia 1" + }, + { + "baseId": "17915|17916|17917|17919", + "text": "Low density lipoprotein cholesterol level quantitative trait locus 1" + }, + { + "baseId": 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+ "text": "Familial hypercholesterolemia" + }, + { + "baseId": "17916|17917|434138|434146", + "text": "Hypocholesterolemia" + }, + { + "baseId": "17917|32929|45327|45330|45331|45332|45333|196755|196756|196757|196758|206939|228912|238334|249983|249984|249986|249987|249988|249989|249990|260587|260588|260608|260609|260620|260626|280890|280891|280895|280902|280908|280911|280925|280929|280937|280941|280946|280951|281418|281431|281441|281446|281453|281456|281460|281473|282665|282667|282690|282694|282939|282943|282945|282961|282962|282969|282970|282973|282975|361171|391339|391359|391368|391518|424996|424997|427985|427986|431937|434137|448374|486886|486915|486918|498542|516028|516048|516151|538526|538527|557107|616178|616190|616199|621086|696802|789411|864631|864632|864633|864634|864635|864636|864637|864638|864639|864640|864641|864642|864643|864644|864645|864646|864647|864648|864649|864650|864651", + "text": "Hypobetalipoproteinemia" + }, + { + "baseId": "17920|17921|17922|17923|17924", + "text": "Congenital bile acid synthesis defect 1" + }, + { + "baseId": "17925|17926|17927|362444|576139", + "text": "Mental retardation, autosomal dominant 4" + }, + { + "baseId": 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+ "text": "Glanzmann thrombasthenia" + }, + { + "baseId": "17930", + "text": "BAK PLATELET-SPECIFIC ANTIGEN" + }, + { + "baseId": "17943|17944|17945", + "text": "Phenylthiocarbamide tasting" + }, + { + "baseId": "17946|21759|31645|31646|174555|174828|189039|194360|253249|253250|253251|268286|273834|274187|306215|306216|306218|306231|306234|306238|306251|306252|306256|306257|310320|310326|310331|310332|310350|310354|310355|310356|310361|310368|315624|315676|315677|315679|315680|315685|315686|315691|315692|315733|315741|315801|315804|315805|315808|315809|319672|481859|552038|620313|900632|900633|900634|900635|900636|900637|900638|900639|900640|900641|900642|900643|900644|900645|900646|900647|900648|900649|900650|900651|900652|900653|900654|900655|900656|900657|900658|900659|900660|900661|900662|900663|900664|900665|900666|900667", + "text": "Hypercholanemia, familial" + }, + { + "baseId": "17947|404783|425216|583105|920275", + "text": "Cerebral palsy, spastic quadriplegic, 2" + }, + { + "baseId": "17948|82291|142666|142667|142668|142669|192151|212975|212977|222194|222196|222198|222199|241222|241223|241225|244701|244702|244704|254371|312026|312046|312075|315582|315590|315591|315596|315597|315598|315604|315606|315608|315609|315614|315615|315619|315627|315646|315647|315650|315652|317682|317724|317727|322423|322424|322425|322438|322441|322443|322447|322450|322452|322453|322462|322471|322472|322492|322493|323641|323734|323765|323770|324393|324481|328619|328659|328663|328664|328665|328675|328676|328677|328679|328695|328697|328709|328710|328713|329870|329879|329880|329888|329889|329890|329893|329895|329909|329912|329915|329916|371932|372773|374431|384516|415315|421892|441490|441493|444695|461556|504490|508858|526572|564984|571122|578495|620425|620426|625755|640560|684271|687683|791185|799661|839216|839237|866766|866767|866768|866820|866821|866822|868577|868686|868989|868990|868991|868992|868993|868994|868995|868996|868997|868998|868999|869000|869001|869002|869003|869004|869005|869006|869007|872154|872155|872156|919402|935889|970925", + "text": "Charcot-Marie-Tooth disease, type 4B2" + }, + { + "baseId": "17949|17950|17951", + "text": "Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma" + }, + { + "baseId": "17953|17954|17955|17956|17957|19972|40256|57290|57294|57295|57296|57298|57303|76647|176636|176637|230790|267403|271628|329798|329799|329801|329802|329811|329813|340090|340092|340103|340108|340115|340120|340121|345789|345795|345797|345800|345801|345809|345810|345814|345818|345820|347194|347198|347203|347204|347205|506389|552027|615827|620606|846182|846191|878385|878386|878387|878388|878389|878390|878391|878392|878393|878394|878395|878396|878397|878398|878399|878400|878401|878402|878403|878404|878405|878406|878407|878408|878409|878410", + "text": "Usher syndrome, type 1G" + }, + { + "baseId": 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761|546763|546766|546767|546780|546784|546790|546793|546803|546811|546814|546815|546824|546826|546828|546836|546838|546845|546856|546866|546867|546870|546873|547003|547006|547013|547015|547021|547031|547033|547034|547035|547038|547041|547042|547045|547046|547052|547055|547058|547060|547072|547079|547079|551614|552405|587534|609760|609761|609763|611734|612882|612884|620367|654603|654611|654612|654617|654618|654619|654620|654690|656009|656012|656013|713192|737576|737581|737584|737586|737587|738305|752138|752220|752221|752225|752227|752235|752236|752241|752242|752246|760047|767802|767806|767896|767898|767901|767904|767906|767910|767918|767919|767920|767925|767926|767930|767934|767935|767939|767940|767945|767946|767949|767958|768788|768806|775562|775689|775714|783675|783682|783687|783691|783696|783702|783706|783717|783718|784189|784220|787671|787689|800360|800555|800572|800573|800613|800695|801422|801432|801688|801689|801711|801712|801713|801714|801715|818293|836980|837193|837197|837200|837201|837206|837212|837216|837217|837219|837220|837223|837227|837233|837236|837237|837240|837242|837243|837252|837256|837263|837266|837269|839045|839075|859808|865985|865986|865987|865988|865989|865990|865991|865992|865993|865994|865995|865996|865997|865998|865999|866000|866001|866002|866003|866004|866005|866006|866007|866008|866009|866010|868479|868480|868803|868804|868805|868806|868807|868808|868809|868810|868811|868812|868813|868814|868815|868816|868817|868818|868819|868820|868821|868822|868823|868824|868825|868826|868827|868828|868829|868830|868831|868832|868833|868834|868835|868836|868837|868838|868839|868840|868841|868842|872137|872138|872139|872140|872141|872142|872143|872144|919343|956182|956189|972115|972116|972117|972118|972119|972120|972121|972122|972123|972124|972125|972126|972127|972128|972129|972130|972131|972132|972133|972134|972135|972136|972137|972138|972139|972140|972141|972142|972143|972144|972145|972146|972147|972148|972149|972150|972151|972152|972153|972154|972155|972156|972157|972158|972159|972160|972161|978683|978684|978685|978686|978687|978688|978689|978690|978691|978692|978693|978694|978695|978696|978697|978698|978699|978700|978701|978702|978703|978704|978705|978706|978707|978708|978709|978710|978711|978712|978713|978714|978715|978716|978717|978718|978719|978720|978721|978722|978723|978724|978725|978726|978727|978728|978729|978730|978731|978732|978733|978734|978735|978736|978737|978738|978739|978740|978741|978742|978743|978744|978745|978746|978747|978748|978749|978750|978751|978752|978753|978754|978755|978756|978757|978758|978759|978760|978761|978762|978763|978764|978765|978766|978767|978768|978769|978770|978771|978772|978773|978774|978775", + "text": "Usher syndrome type 1" + }, + { + "baseId": "17958|17959|17960|214523|626354", + "text": "Thyroid hormone metabolism, abnormal" + }, + { + "baseId": "17961|17962|17963|17964|17965|17966|17967|17968|512900", + "text": "Chylomicron retention disease" + }, + { + "baseId": "17969|17970|34355|34356|48167|539037", + "text": "Cold-induced sweating syndrome 2" + }, + { + "baseId": "17971|17972|17973|17974|17975|99931|99932|190386|254709|267600|318289|318294|318295|318296|318300|318301|318305|318306|318308|318309|326274|326305|326307|326308|326315|326318|326319|326320|326328|332552|332553|332577|332579|332581|332584|332601|332602|332605|332612|332616|332623|332632|334160|334171|334176|334177|334201|334206|334208|334210|334211|334212|334225|334233|334234|334242|408733|504073|565703|578510|625883|641371|652737|713708|713709|738825|738826|738827|744914|753550|753551|769278|775864|784456|784458|784460|820515|820516|820517|840220|840221|851957|870290|870291|870292|870293|870294|870295|870296|870297|870298|870299|870300|870301|870302|870303|870304|870305|870306|870307|870308|870309|870310|870311|870312|870313|870314|872284|926720|948138|960791|964398", + "text": "Mucopolysaccharidosis, MPS-III-D" + }, + { + "baseId": "17976|17977|17978|17979|17980|227217|281164|281168|281174|281176|281186|281188|281192|281772|281783|281785|281786|281787|281792|281795|281796|281803|282967|282968|282998|283001|283002|283003|283030|283034|283036|283048|283049|283264|283272|283273|283276|353108|620013|620727|620728|864795|864796|864797|864798|864799|864800|864801|864802|864803|864804|864805|864806|864807|864808|864809|865208|865209", + "text": "Cystathioninuria" + }, + { + "baseId": "17980", + "text": "Homocysteine, total plasma, elevated" + }, + { + "baseId": "17981|17983|190532|190533|192452|268079|298640|298641|298653|298655|298656|298664|298666|298667|298669|298676|298677|298682|298684|301041|301043|301045|301047|301050|301052|301054|301056|301061|301076|301078|301085|301086|301093|301095|301096|301105|301117|301120|301121|305473|305488|305489|305510|305517|305520|305521|305525|305528|305529|305531|305533|305596|305597|305598|305604|305620|305622|305628|305629|305631|305637|305638|481434|584809|620207|710102|721629|779128|790573|895151|895152|895153|895154|895155|895156|895157|895158|895159|895160|895161|895162|895163|895164|895165|895166|895167|895168|895169|895170|895171|895172|895173|895174|895175|895176|895177|895178", + "text": "Osteopetrosis, autosomal recessive 5" + }, + { + "baseId": "17984|106438|177729|268041|271289|364010|512960|626265|727570|846508", + "text": "Retinitis pigmentosa 30" + }, + { + "baseId": "17984|22919|22923|22924|22942|22952|24520|31114|31115|31116|34176|34177|34178|98778|104561|104927|104930|104931|104938|104954|104974|104990|105042|105058|105068|105082|105135|105147|105160|105279|105285|105296|105297|105302|105329|105330|105332|105333|105337|105343|105349|105380|105381|105383|105387|106449|134459|134460|134461|134462|134463|134464|134465|134466|139937|139938|139942|139944|152793|177450|187995|188003|188007|190742|191153|191753|193374|227292|227293|237323|237686|237695|237696|237704|247041|250031|250033|267624|271456|277787|277877|277940|278069|278074|278181|278855|278862|278949|279011|279014|279142|279153|279159|279170|279232|281326|281328|281329|281332|281340|281341|281342|281346|281351|281359|281361|281367|281368|281373|281375|281378|281381|281972|281973|281986|281988|281995|281996|282000|282001|282006|283241|283246|283260|283261|283265|283266|283281|283282|283286|283290|283291|283298|283299|283386|283388|283391|283392|283399|283400|283402|283415|283422|283423|283434|283437|283438|283441|283442|299768|299776|299781|299782|299793|299794|299798|299800|299801|299802|299808|299809|299810|299817|299818|299823|299824|299825|299832|302372|302387|302388|302389|302401|302405|302413|302414|306762|306777|306778|306782|306810|306818|306821|306823|306824|306825|306828|306830|307093|307103|307110|307117|307120|307123|307132|309611|309617|309623|309625|309626|309628|309632|309634|309635|310384|310391|310392|310405|310413|310414|310463|314433|314435|314436|314437|314439|314441|315483|315490|315526|315555|320486|320494|320495|320496|320958|320969|320970|320973|320983|320985|321000|321491|321510|321549|321588|322273|322279|322288|322302|322309|322331|333272|334509|337801|337826|339798|343356|343374|343375|344343|344359|344383|348650|349452|350459|353493|353745|360817|513994|723822|737385|752008|859786|859787|865523|865524|865525|865526|865527|865528|865529|865530|865531|865532|865533|868454|895776|895782|895783|895784|895785|895786|895787|895788|895789|895790|895791|895792|895793|896219", + "text": "Macular degeneration" + }, + { + "baseId": "17985|17986|17987|17988|17989|17990|17991|102073|102077|102078|102081|102084|102085|102086|102088|102089|152915|177420|181491|244142|361967|424665|429938|429944|429948|481322|513464|577616|580293|611446|613831|614034|622441|788905|791682|798711|919710|919711|919712|961333|961628|964469|964470|971069|971070", + "text": "Smith-Magenis syndrome" + }, + { + "baseId": "17992|553276|614644|626139|626140|918855", + "text": "Spinocerebellar ataxia 7" + }, + { + "baseId": "17993|17994|17995|85479|189103|250725|250726|250727|250728|250729|286023|286024|286029|286031|286035|286037|286038|286040|286045|286047|286051|286057|286061|286063|286065|286067|286072|286075|286768|286784|286787|286788|286801|286803|286805|286808|286811|286825|286826|286836|286837|286847|286849|286851|289080|289081|289083|289086|289094|289096|289097|289098|289105|289108|289109|289129|289436|289438|289439|289443|289444|289445|289448|289460|289461|289462|289468|289470|289471|289472|289475|289476|289477|289480|496231|496702|518175|561465|561466|561471|623270|629946|629947|708234|708235|708238|708239|708241|708242|708243|719844|719845|719846|719850|719851|747594|781312|826415|826416|884703|884704|884705|884706|884707|884708|884709|884710|884711|884712|884713|884714|884715|884716|884717|884718|884719|884720|884721|884722|884723|884724|884725|884726|884727|884728|884729|884730|884731|884732|884733|884734|884735|884736|884737|884738|884739|884740|884741|884742|884743|884744|884745|884746|884747|884748|884749|884750|884751|884752|884753|884754|884755|884756|884757|884758|884759|884760|884761|884762|884763|884764|884765|884766|884767|884768|884769|884770|884771|884772|887349|887350|887351|887352|887353|887354|887355|887356|887357|887358|887359|887360", + "text": "Hereditary xanthinuria type 1" + }, + { + "baseId": "17996|17997|17998|17999|18002|18003|18005|18006|18007|18008|18009|18010|18011|18012|18013|18014|18015|18016|18017|18018|33985|33986|33987|33988|33989|33990|33992|33994|91670|98607|98608|98609|98610|98611|98612|98613|98614|98616|98618|98619|98620|98621|98622|106599|135257|136637|136638|136639|136640|136641|136642|136643|136644|136645|136646|136647|136648|136649|136650|138599|179793|179794|179795|179796|179798|179799|187020|187022|187023|187024|187025|187026|187027|187028|187029|187030|187031|191145|191321|191322|191972|191973|192884|192885|194812|194949|195863|196161|196162|208444|213648|213649|236859|237046|237454|247146|255054|256596|256598|256601|256603|256607|256608|260201|263804|265268|265286|265287|266176|266178|266182|266608|268883|268899|269233|272008|272074|272343|272387|273494|273495|273976|274042|274371|330510|330513|330847|330849|330852|330856|330857|330865|339011|339016|339018|341110|341113|341115|341119|341122|341128|341130|341132|341134|341135|341136|341149|341151|341153|341155|341160|341165|341166|341168|341170|346689|346690|346695|346698|346699|347945|347946|347956|347958|347968|347969|347970|347973|347976|347981|358525|358526|358527|358528|358529|358530|358531|358532|358533|358534|358535|358536|358537|358538|358539|358540|358541|358542|358543|358544|358545|358546|360308|360321|360478|361031|361231|361232|361634|376732|376743|390247|404603|410326|410327|410328|410330|410331|422213|431002|433760|445944|445945|467901|467904|467906|469596|469602|480509|486196|487967|487968|489195|489385|489578|490682|490751|490761|490772|491363|491579|492370|492377|492780|492948|493698|493700|493771|493787|494126|495854|497495|506884|508899|508900|508901|512873|512874|512981|513372|532151|532153|532171|532264|532541|532545|537304|538474|538475|548481|548487|548490|548492|548493|548495|548499|548501|548502|548503|548505|548510|548513|548515|548516|548517|548518|548521|548523|548524|548526|548529|548531|548533|548536|548538|548539|548540|548547|548548|548550|548551|548553|548559|548561|548565|548567|548570|548572|548576|548877|548882|548883|548890|548892|548900|548903|548905|548907|548911|548914|548915|548918|548920|548927|548934|549227|549228|549230|549231|549232|549234|549235|549237|549241|549245|549248|549249|549250|549251|549252|549256|549257|549260|549262|549264|549265|549270|549271|549781|552209|571846|571849|572547|572557|574712|584406|584624|584819|584869|585055|585625|585773|586007|586050|587099|588473|588653|589498|620894|647094|647095|647096|653379|694252|695790|695791|704552|715910|725798|727659|731208|741313|741315|741316|745017|745020|745022|756394|756395|756396|756397|760713|772049|772051|772052|772054|772055|772057|772058|772059|772060|772064|772069|776438|776441|776474|776476|776477|778432|785846|785847|785848|785852|785854|788200|788201|791851|791852|791853|798732|802222|802223|822140|822141|822338|822339|846692|846693|846694|846695|846696|846697|846698|846699|846700|846701|846702|846703|846704|846705|846706|846707|846708|846709|851765|851767|852267|852806|872542|872543|872544|878971|878972|878973|878974|878975|878976|878977|878978|878979|878980|878981|878982|878983|878984|878985|878986|878987|878988|878989|878990|878991|878992|878993|878994|880635|880636|880637|880638|919790|920389|928660|928661|928662|938384|941205|941206|950459|950460|950461|950462|950463|950464|958438|958439|958440|958441|958442|958443|961024|961883|961884|961885|963179|970244|972288|972289|972290|972291|972292|972293|972294|972295|972296|972297|972298|972299|972300|972301|972302|972303|972304|972305|972306|979937|979938|979939|979940|979941|979942|979943|979944|983467|983559", + "text": "Niemann-Pick disease type C1" + }, + { + "baseId": "17997|18005|18006|18008|18012|23516|23519|34307|179794|179798|187022|187023|187024|187026|187031|191973|260201|321300|330843|330861|330871|339032|341146|341147|346676|346683|346701|346703|346708|347945|347983|358544|358545|410330|480509|487967|495854|497495|572547|621868|654839|654840|905956", + "text": "Niemann-Pick disease, type C" + }, + { + "baseId": "17999", + "text": "Niemann-Pick disease, type D" + }, + { + "baseId": "18001|18002", + "text": "Niemann-Pick disease, type C1, adult form" + }, + { + "baseId": "18003|18004|272074|548561", + "text": "Niemann-Pick disease, type C1, juvenile form" + }, + { + "baseId": "18019|18019|18021|18023|18024|18025|18028|18029|18029|18030|18030|18031|18031|18032|18032|18033|18033|18034|18035|99217|99217|99218|99219|99220|99221|99222|99222|99224|99225|99225|99226|99227|99227|99228|99229|106596|106596|177005|177267|177267|178085|178085|178086|178086|186823|186823|186824|186824|186825|186825|186826|186827|186827|186828|186828|190279|190280|192246|192246|192247|192247|192248|192248|192252|192252|194320|195253|195253|195254|195254|195255|195255|195256|195256|199816|214803|227454|227455|227456|227457|227458|227459|227460|236951|236951|237172|237172|254227|254228|254230|265222|265222|265283|265283|265566|265942|265942|266123|266123|267144|267144|269652|269654|269654|269655|269655|270485|270485|271133|271133|271270|271270|272309|272309|272310|272310|274117|274185|274185|274186|274186|275339|314473|314491|314496|314499|314499|314500|314500|314501|321148|321148|321155|321155|321158|321160|327239|327239|327240|327247|328253|328259|328266|328275|328289|328290|328311|328312|357977|357977|357978|357979|357980|357981|357981|357982|357983|357983|357984|357985|357985|357986|357987|357987|357988|357989|357990|357990|357991|357992|357993|357994|357995|357996|357997|357998|361948|372490|390057|390057|425936|431015|439104|439104|461245|461245|462081|488247|488281|488718|489451|490008|491917|493996|526300|526300|526543|526551|526556|546042|546046|546054|546057|546059|546062|546070|546071|546078|546080|546081|546086|546087|546089|546090|546092|546332|546334|546336|546338|546340|546342|546344|546349|546349|546354|546356|546361|546361|546363|546366|546369|546371|546476|546481|546483|546483|546487|546489|546491|546498|546506|546509|546513|546513|546515|546692|546699|546701|546703|546704|546707|546728|546730|546732|546737|546740|546748|546751|564786|565935|565935|583298|584116|584233|584233|584496|587377|588679|588868|589157|589470|620410|621364|640225|640226|640227|640227|640228|640229|640230|712980|712981|724549|724550|724550|738090|752750|752751|768527|768529|768530|768532|768534|768538|768539|784046|784047|784049|784050|787800|791147|801692|801693|801694|801695|801696|801697|801698|801699|801699|801700|801701|801701|816413|838668|838669|838670|838671|838672|868202|868203|868204|868205|868206|868207|868208|868209|868210|868211|868211|868212|868213|868213|868214|868215|868216|906130|926307|926308|935648|947548|956559|956560|956561|956562|956563|956564|956565|956566|970939|980612|980613|980614|980615|980616|980617|980618|980619|980620|980621|980622|980623|980624|980625|980626|980627|980628|980629|980630|980631|980632|980633|980634|980635|980636|980637|980638|980639|980640|980641|980642|980643|980644|980645|980646|980647|980648|980649|980650|980651", + "text": "Niemann-Pick disease, type A" + }, + { + "baseId": "18019|18021|18023|18026|18027|18028|18029|18030|18031|18032|18033|18034|99217|99219|99222|99225|99227|106596|177005|177267|178086|186824|186825|186827|186828|192246|192247|195254|195255|195256|199815|199816|199817|199818|199819|199820|199841|254227|265222|265942|266123|269654|271133|271270|272309|272310|274185|274208|275339|275438|314491|314496|321155|327239|357979|357983|357985|357986|357987|357990|357991|357994|372490|390057|439104|461245|488247|488281|488336|490008|491917|526551|546070|546338|546361|564786|588679|589470|640227|640229|712981|738090|768539|974500|974501|979016|979017|979018|979019|979020|979021|979022|979023|979024|979025", + "text": "Sphingomyelin/cholesterol lipidosis" + }, + { + "baseId": "18019|18019|18022|18026|18027|18028|18029|18029|18030|18031|18031|18032|18032|18033|18033|99217|99220|99222|99225|99225|99227|99227|99229|106596|177005|177267|177267|178085|178086|178086|186823|186823|186824|186825|186827|186828|190279|190280|192246|192247|192247|192248|192252|194320|195253|195254|195254|195255|195256|199816|236951|237172|254227|254228|265222|265283|265566|265942|266123|267144|269654|269655|270485|271133|271270|272309|272310|274117|274185|274186|275339|314491|314499|314500|321148|321155|327239|357977|357981|357983|357983|357985|357987|357990|372490|390057|439104|461245|462081|488718|489451|490008|491917|493996|526300|526543|526551|526556|546349|546361|546483|546513|564786|565935|584116|584233|584496|587377|588679|588868|589157|589470|621364|640225|640226|640227|640228|640229|640230|712980|712981|724549|724550|738090|752750|752751|768527|768529|768530|768532|768534|768538|768539|784046|784047|784049|784050|787800|801697|801699|801701|838668|838669|838670|838671|838672|868211|868213|906130|926307|926308|935648|947548|956559|956560|956561|956562|956563|956564|956565|956566|980612|980613|980614|980615|980616|980617|980618|980619|980620|980621|980622|980623|980624|980625|980626|980627|980628|980629|980630|980631|980632|980633|980634|980635|980636|980637|980638|980639|980640|980641|980642|980643|980644|980645|980646|980647|980648|980649|980650|980651", + "text": "Niemann-Pick disease, type B" + }, + { + "baseId": "18030|18033", + "text": "Niemann-pick disease, intermediate, protracted neurovisceral" + }, + { + "baseId": "18036|18037|18038|18039|18040|18041|18042|18043|18044|18045|18046|30959|77042|77048|328379|328380|328381|328390|328391|328392|328394|328400|328401|328406|338312|338313|338318|338320|338322|338327|338330|338334|338340|344384|344385|344394|344395|344396|344399|344405|344406|344409|344410|344411|344412|344413|344414|345817|345824|345825|345827|345828|578544|620884|877420|877421|877422|877423|877424|877425|877426|877427|877428|877429|877430|877431|877432|877433|877434|877435|877436|877437|877438|877439|877440|877441|877442|877443|877444|877445|877446|877447|877448|877449|877450|880514|964477", + "text": "Epidermolytic palmoplantar keratoderma" + }, + { + "baseId": "18036|18047|18048", + "text": "Palmoplantar keratoderma, epidermolytic, with knuckle pads" + }, + { + "baseId": "18036|165961|360835|360981", + "text": "Palmoplantar keratoderma" + }, + { + "baseId": "18049|18050|18051|18052|18053|45840|45842|48409|48410|48411|48412|102250|102251|102252|102253|102254|102255|102256|152880|177788|177789|177790|190649|190650|253502|253503|253504|253506|253507|308009|308013|308015|308019|308020|308024|308026|308027|308032|308065|308069|308070|312355|312358|312359|312361|312364|312429|318130|318131|318134|318138|318144|318632|318645|318646|318653|318746|489728|620327|623984|700970|737096|767373|801415|836026|901800|901801|901802|901803|901804|901805|901806|901807|901808|901809|901810|901811|901812|901813|901814|901815|901817|901818|901820|901821|901822|901823|901825|901826|901827|901828|901829|901830|901832|901845|901846|901847|901848|901849|903383|966597|970911", + "text": "Cone dystrophy with supernormal rod response" + }, + { + "baseId": "18054|18056|39637|171804|177353|177514|186020|212352|214071|251316|271205|292180|292181|292184|292189|292191|293616|293619|293626|293627|293628|293629|293630|296934|296936|296941|296942|296946|296947|296954|296955|296956|296957|296958|296959|296961|296962|296968|362073|428269|453712|513267|513268|519717|620146|792743|800353|828723|828724|890064|890065|890066|890067|890068|890069|890070|890071|890072|890073|890074|890075|890076|891748|891749|903531|906237|906238|970783", + "text": "Bardet-Biedl syndrome 7" + }, + { + "baseId": "18055", + "text": "Bardet-Biedl syndrome 1/7, digenic" + }, + { + "baseId": 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+ "text": "Ataxia-telangiectasia syndrome" + }, + { + "baseId": "18058|18062|18065|18081", + "text": "T-cell prolymphocytic leukemia" + }, + { + "baseId": 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+ "text": "Breast neoplasm" + }, + { + "baseId": "18060|18061|18062|18084|18086|48348", + "text": "Ataxia-telangiectasia variant" + }, + { + "baseId": "18066", + "text": "B-cell non-Hodgkin lymphoma" + }, + { + "baseId": "18067|18068", + "text": "Ataxia-telangiectasia without immunodeficiency" + }, + { + "baseId": 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+ "text": "Breast and/or ovarian cancer" + }, + { + "baseId": "18078|18079|18080", + "text": "Mantle cell lymphoma" + }, + { + "baseId": 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+ "text": "Hereditary breast and ovarian cancer syndrome" + }, + { + "baseId": "18088|18106|18108|18118|18127", + "text": "Arylsulfatase A pseudodeficiency" + }, + { + "baseId": "18089", + "text": "ARYLSULFATASE A POLYMORPHISM" + }, + { + "baseId": "18090|18091|18096|18097|18133", + "text": "Metachromatic leukodystrophy, juvenile type" + }, + { + "baseId": "18090|18091|18092|18096|18128|18129|18131", + "text": "Metachromatic leukodystrophy, adult type" + }, + { + "baseId": "18091", + "text": "Arylsulfatase a, allele a" + }, + { + "baseId": "18093|18094|18095|18099|18130|18132", + "text": "Metachromatic leukodystrophy, late infantile" + }, + { + "baseId": "18099", + "text": "Pseudoarylsulfatase A deficiency" + }, + { + "baseId": "18100|18101|18103|18113|18114|18115|18117|18119|18120", + "text": "Metachromatic leukodystrophy, severe" + }, + { + "baseId": "18119|181427|197521|361079|361392|590049|614156|677052|677053|677054|682863|682863", + "text": "Leukodystrophy" + }, + { + "baseId": "18121|18126", + "text": "Metachromatic leukodystrophy, mild" + }, + { + "baseId": "18122", + "text": "Arylsulfatase a pseudodeficiency, severe" + }, + { + "baseId": "18123", + "text": "Arylsulfatase a pseudodeficiency, intermediate" + }, + { + "baseId": 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+ "text": "Vitamin B12-responsive methylmalonic acidemia type cblB" + }, + { + "baseId": 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+ "text": "Progressive myoclonic epilepsy" + }, + { + "baseId": "18147", + "text": "Inflammatory bowel disease 17, protection against" + }, + { + "baseId": "18147", + "text": "Psoriasis, protection against" + }, + { + "baseId": "18148|57046|57047|57048|57049|175382|175526|175530|195778|227348|230251|315655|315659|315661|315662|315669|315671|315678|315682|315683|315688|315690|315698|315699|322494|322498|322520|322536|322537|322563|322591|328717|328740|328741|328748|328758|328759|329917|329934|329937|329938|329939|329947|329948|329949|444903|620838|869008|869009|869010|869011|869012|869013|869014|869015|869016|869017|869018|869019|869020|869021|869022|869023|869024|869025|869026|869027|869028|869029|869030|869031|869032|869033|869034|869035|869036|869037|872167", + "text": "Deafness, autosomal dominant 25" + }, + { + "baseId": 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+ "text": "Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type" + }, + { + "baseId": 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+ "text": "Long QT syndrome 1" + }, + { + "baseId": 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+ "text": "Congenital long QT syndrome" + }, + { + "baseId": 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+ "text": "Arrhythmia" + }, + { + "baseId": "18159|18189|29477|29480|67735|197175", + "text": "Long QT syndrome 1/2, digenic" + }, + { + "baseId": "18165|29459|52852|78119|175694|384412|406276|419284|419285|419287|551407|961008|961009|980697|980712", + "text": "Prolonged QT interval" + }, + { + "baseId": "18166|18167|18177|18178|18179|18179|18181|18183|28516|45099|45100|45101|51654|51655|51656|51658|51659|51660|51663|67614|67621|67633|67639|67648|67664|67666|67667|67672|67686|67689|67693|67713|67729|67737|67740|67740|67755|67761|67788|77916|77922|77923|77925|77926|77933|77934|77957|77958|77974|77974|78005|141704|141707|141709|141711|141712|141713|141715|174724|175699|175700|175702|175840|175841|197416|197473|197475|197488|197510|212927|241093|313786|313790|313816|313822|313826|313828|313829|313831|313834|319993|319999|320013|320015|320017|320018|320026|320030|320031|320032|326163|326180|326191|326209|326210|326211|326212|326218|327103|327131|327132|327133|327139|327142|327143|327152|327157|327158|362222|371355|398462|419283|424482|432231|461128|488172|508755|617858|752632|793392|867801|867802|867803|867804|867805|867806|867807|867808|867809|867810|867811|867812|868642|868643|868644|868645|868646|868647|967192|967193|971571", + "text": "Jervell and Lange-Nielsen syndrome 1" + }, + { + "baseId": "18167|18170|18181|18183|18187|45099|45100|45101|51654|51655|51656|51658|51659|51660|51663|67621|67648|67664|67666|67689|67699|67755|67788|77916|77922|77923|77925|77926|77933|77934|77957|77958|77968|77974|77974|78005|141704|141707|141709|141711|141712|141713|141715|174724|175699|175700|175702|175840|175841|197416|197473|197475|197488|197510|212927|241093|313786|313790|313816|313822|313826|313828|313829|313831|313834|319993|319999|320013|320015|320017|320018|320026|320030|320031|320032|326163|326180|326191|326209|326210|326211|326212|326218|327103|327131|327132|327133|327139|327142|327143|327152|327157|327158|362405|371355|398462|419283|461128|589841|617858|752632|793392|867801|867802|867803|867804|867805|867806|867807|867808|867809|867810|867811|867812|868642|868643|868644|868645|868646|868647", + "text": "Short QT syndrome 2" + }, + { + "baseId": "18167|18170|18181|18182|18183|45099|45100|45101|51654|51655|51656|51657|51658|51659|51660|51663|67621|67648|67664|67666|67689|67753|67755|67755|67788|77916|77922|77923|77925|77926|77933|77934|77957|77958|77974|77974|77990|78005|141704|141707|141709|141711|141712|141713|141715|174724|175699|175700|175702|175840|175841|197416|197473|197475|197488|212927|241093|313786|313790|313816|313822|313826|313828|313829|313831|313834|319993|319999|320013|320015|320017|320018|320026|320030|320031|320032|326163|326180|326191|326209|326210|326211|326212|326218|327103|327131|327132|327133|327139|327142|327143|327152|327157|327158|371355|398462|419283|461128|617858|752632|793392|867801|867802|867803|867804|867805|867806|867807|867808|867809|867810|867811|867812|868642|868643|868644|868645|868646|868647", + "text": "Atrial fibrillation, familial, 3" + }, + { + "baseId": "18170|18171", + "text": "Long QT syndrome 1, recessive" + }, + { + "baseId": "18170|197510", + "text": "KCNQ1-Related Disorders" + }, + { + "baseId": "18170|33095|45266|51826|54147|54243|54559|78401|78495|78729|171059|172420|189195|189203|224541|228379|229722|241797|377844|402722|406912|453664|510938|621566|642269|672379|672397|672400|672417|672425|672431|851993|966401|966406|966432|966438|966462|966473|966499|966502", + "text": "Conduction disorder of the heart" + }, + { + "baseId": "18174|21535|29459|29460|29462|29463|29465|29466|29467|29468|29469|29470|29471|29472|29473|29474|29479|29482|29483|38732|38733|45091|45092|78059|78086|78100|78121|78144|78157|78157|78175|78180|78188|78200|78211|78211|78219|78232|78248|78264|78277|78281|78287|78301|78303|78319|78322|78323|78325|78328|78333|78339|78346|78348|78351|78354|78362|78367|78377|78380|78381|78384|78392|78393|78393|78400|78401|78402|78404|78405|78408|78431|78431|78439|78443|78448|78906|81524|167508|171107|171108|178574|178576|178578|178585|189257|189262|197149|197154|197172|197175|197200|197201|197212|197230|197235|197243|197245|197263|197272|197273|197274|197319|197324|197324|197328|197332|197333|197334|197340|197348|197360|197371|212567|212569|214747|215355|221671|221672|224289|224342|224343|224344|224345|239993|239997|239999|240002|252648|263859|302179|302190|302194|305379|305381|305385|305389|305394|310179|310192|310194|310195|310201|310203|310300|310305|361864|361865|369342|369584|369621|369632|370973|389717|389774|395482|395489|395489|395490|395666|395716|396181|396190|419274|419275|419295|424268|424562|424894|439879|442550|442551|442552|456848|495332|501662|509854|511026|522772|536180|551774|551775|561705|576259|589836|589837|617351|621263|625801|625802|625977|680045|680046|680047|683140|683863|687002|805532|833340|833345|857647|857648|897660|897661|897662|897663|897664|897665|897666|897667|897668|897669|897670|897671|897672|897673|897674|897675|897676|897677|897678|897679|897680|897681|900332|900333|961000|961001|961283|967183|967184|967185|967270|970846", + "text": "Long QT syndrome 2" + }, + { + "baseId": "18181", + "text": "Acquired susceptibility to long QT syndrome 1" + }, + { + "baseId": "18181|18183|19185|20864|23785|23786|23787|23788|33281|33282|33484|33485|67621|67648|67664|67666|67755|77926|77933|77957|77974|101930|101934|101939|101941|101943|101947|101948|101949|101952|101958|101960|101964|101965|101970|101971|101971|101972|101973|101976|102653|102654|102655|102656|102657|102658|102659|136597|136599|136603|136610|136617|136619|152978|166233|166404|168110|168113|168116|168123|168124|168125|168126|168127|168132|168134|168136|168139|168142|168151|168153|168156|168158|168162|168165|168166|168167|168168|168170|168182|168183|168187|168191|168212|168214|168221|168235|168242|168245|168246|168247|168249|168250|168254|168259|168264|168265|168269|168273|168279|168293|168880|168881|172166|172167|177228|190140|190141|190142|190143|190144|190145|190146|190205|190206|190207|191835|192936|195012|195016|197416|197475|205743|207186|207864|213557|213558|232066|239787|239789|239791|241096|241097|241098|241099|241100|241101|241102|241103|241104|241105|241106|241107|241108|241109|241110|241112|241113|241114|241115|241116|241117|241118|241119|241120|241121|241122|241124|241125|241125|245098|251847|251851|251854|251862|251864|254132|264188|264205|266982|267793|273454|297027|298925|303347|303352|368108|368109|368565|369788|369790|384489|394847|394849|394850|394921|394933|394936|394944|394959|394963|394967|395141|395147|395151|395155|395458|398129|398135|398139|398142|398144|398146|398148|398153|398156|398157|398160|398196|398198|398199|398202|398205|398207|398208|398215|398224|398535|398536|398545|398546|398549|398552|398553|398558|398565|398566|398571|398572|398580|398602|398619|398620|398622|398625|398628|398631|398634|398637|398639|398640|406704|419283|428384|428390|432019|443760|443764|443768|453624|454419|454840|454844|454847|454953|454957|454958|454964|454972|455434|455436|455440|455443|455685|455687|455690|455692|455700|461010|461013|461016|461017|461021|461022|461029|461033|461039|461043|461128|461154|461157|461162|461167|461172|461174|461182|461187|461189|461197|461198|461209|461214|461428|461431|461432|461433|461434|461438|461468|461470|461482|461491|461492|461495|461496|461497|461498|461502|461504|461513|461514|461806|461806|461807|461818|461821|461829|461831|461834|461835|461838|461842|500781|521076|521077|521080|521082|521084|521088|521321|521324|521330|521332|521339|521435|521439|521441|521446|521559|521570|521573|521578|521579|521585|521586|521598|526048|526052|526070|526078|526082|526088|526089|526095|526099|526101|526104|526106|526112|526115|526117|526119|526122|526125|526126|526128|526145|526149|526154|526158|526242|526247|526250|526252|526255|526265|526267|526272|526273|526279|526284|526295|526566|526576|526582|526584|526593|526601|526613|526615|526619|537784|537786|559839|560271|560273|560275|560277|560279|560281|560386|563063|563065|563067|563069|563071|563072|563074|563076|564579|564581|564586|564588|565024|565028|565037|565044|565047|565048|565050|565650|565651|565653|565661|565664|565671|565673|565675|565680|565681|565682|565683|565686|565690|567164|567166|567169|567171|567175|567177|567179|567182|567183|567185|567196|570502|570513|570518|570527|570529|570536|570538|570540|570541|570545|570547|570562|579137|612189|633762|633763|633764|633765|633766|633767|633768|633769|633770|633771|633772|633773|633774|633775|633776|633777|633778|633779|633780|633781|633782|633783|633784|633785|633786|633787|633788|633789|633790|639922|639923|639924|639925|639926|639927|639928|639929|639930|639931|639932|639933|639934|639935|639936|639937|639938|639939|639940|639941|639942|639943|639944|639945|639946|639947|639948|639949|639950|639951|639952|651238|651388|651393|684254|685186|685187|686728|686729|687759|687760|687762|687764|687765|691823|692991|692992|692993|692995|692997|692998|692999|693000|693001|701718|701719|712777|712778|721393|724381|724382|724383|724385|724386|735019|752634|752638|765036|765040|768407|768408|768413|768414|783979|819575|820358|830672|830673|830674|830675|830676|830677|830678|830679|830680|830681|830682|830683|830684|830685|830686|830688|830689|830690|838251|838252|838253|838254|838255|838256|838257|838258|838259|838260|838261|838262|838263|838264|838265|838266|838267|838268|838269|838270|838271|838272|838273|838274|838275|838276|838277|838278|838279|838280|838281|838282|838283|838284|838285|838286|838287|838288|838289|838290|851280|851899|858732|859416|924002|924003|924004|924005|924006|924007|924008|924009|924010|924011|926186|926187|926188|926189|926190|926191|926192|926193|926194|932856|932857|932858|932859|932860|935474|935475|935476|935477|935478|935479|935480|935481|935482|935483|935484|935485|935486|935487|935488|935489|935490|944544|944545|944546|944547|944548|944549|944550|944551|944552|944553|944554|944555|944556|944557|947396|947397|947398|947399|947400|947401|947402|947403|947404|947405|947406|947407|947408|947409|954111|954112|954113|954114|956457|956458|956459|956460|956461|956462|959762|966343|966855", + "text": "Beckwith-Wiedemann syndrome" + }, + { + "baseId": "18182|21094|23515|39000|39001|39002|39003|39004|39077|45426|55809|56175|56216|56430|56634|56797|56800|77968|77970|77990|78323|78513|78690|78758|78791|78886|78894|78906|141245|141530|174886|174893|188392|189264|400482|609143|679384|679390|679395|679396|679403|679406|965490|965581", + "text": "Atrial fibrillation" + }, + { + "baseId": "18187|23966|29475|29476|51661|67638|77926|78107|78193|78389|99326|141708|178746|258487|259021|313787|313794|313799|313800|313812|313813|313817|319980|319984|319986|319987|319988|320021|320022|320025|326169|326170|326178|326190|326206|326214|327120|327127|327130|329620|329636|329643|329650|329654|329660|329663|329672|329675|339908|339921|339927|339929|339930|345653|345672|345676|345677|347000|347021|347026|625803", + "text": "short QT syndrome" + }, + { + "baseId": "18190|39628|39629|39630|39632|39633|39634|49394|174585|174863|205193|207733|253663|253665|253667|266459|266803|268437|270732|309267|309268|309270|309271|313952|313953|313956|313957|313958|313962|320384|320392|320402|424579|424580|429035|429037|429038|494109|612288|751910|801115|865270|865271|865272|865273|865274|865275|865276|865277|865278|865279|865280|865281|865282|865283|865284|865285|865286|865287|865288|865289|865290|865291|865292|865293|984076|984077|984078", + "text": "Hermansky-Pudlak syndrome 6" + }, + { + "baseId": "18191|34669|34670|34671|34672|34673|34674|175689|175690|175829|175830|195055|230185|230186|230187|254081|254085|264420|313466|313468|313469|313471|313472|313474|313475|313476|313480|319580|319590|319592|319608|319617|319620|319624|319626|319627|319628|319630|319633|319634|319661|319665|319666|319667|319670|319673|325748|325771|325772|325775|325776|325778|325784|325786|325787|326767|326772|326775|326780|326783|326792|326793|326796|326810|326813|326816|326823|326825|326828|326834|326836|326837|326851|326854|418951|418952|418953|418954|418955|418956|418957|418958|418959|418960|424687|424688|429220|429224|512926|724348|752609|788849|867671|867672|867673|867674|867675|867676|867677|867678|867679|867680|867681|867682|867683|867684|867685|867686|867687|867688|867689|867690|867691|867692|867693|867694|867695|867696|867697|867698|867699|867700", + "text": "Hermansky-Pudlak syndrome 5" + }, + { + "baseId": 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+ "text": "Weill-Marchesani syndrome 4" + }, + { + "baseId": "18196|18197|18198|18199|102426|102427|141939|141940|200053|200054|200055|216025|216026|216027|216028|216029|216030|216031|216033|216034|216035|216036|227099|227100|251332|292308|292309|292315|292317|292318|292319|292324|292329|292330|292334|292339|292346|292353|292360|292361|292365|292372|293749|293750|293754|293755|293756|293758|293759|293760|293789|293791|293793|293795|293796|297032|297033|297034|297037|297038|297044|297052|297061|297063|297064|297069|297073|297074|297075|297077|297080|297084|297085|297092|297098|297099|297101|297108|297115|297119|297120|297123|297124|297125|297126|297129|297135|297154|297158|297183|297184|297185|297188|367941|369033|433694|434424|434425|434426|434427|434428|434429|434430|434431|434432|434433|434434|434435|434436|434437|434438|434439|434440|434441|452967|453275|453742|487063|500497|513270|513271|513949|543074|543080|543081|543083|543333|543336|543338|543339|543374|543377|543380|543389|543393|543409|543414|543415|543417|543423|543425|559591|559740|631954|631955|691510|691511|698388|698389|720775|748753|764328|764331|764332|774922|774925|781878|819451|828815|850968|890144|890145|890146|890147|890148|890149|890150|890151|890152|890153|890154|890155|890156|890157|890158|890159|890160|890161|890162|890163|890164|890165|890166|890167|890168|890169|890170|890171|890172|890173|890174|890175|890176|890177|890178|890179|890180|890181|890182|890183|890184|890185|890186|890187|891751|903533|903534|932179|932180|943814|943815|953681|971852|978018|978019|978020|978021|978022|978023|978024|978025|978026|978027|978028|978029|978030|978031|978032|978033|978034|978035", + "text": "Vitamin B12-responsive methylmalonic acidemia type cblA" + }, + { + "baseId": "18200", + "text": "Hypotrichosis 1" + }, + { + "baseId": "18201", + "text": "Unipolar depression, susceptibility to" + }, + { + "baseId": "18202", + "text": "Attention deficit-hyperactivity disorder 7" + }, + { + "baseId": "18203", + "text": "Bipolar affective disorder, susceptibility to" + }, + { + "baseId": "18203|318423|318432|318433|318438|318445|318449|318453|326574|326576|326578|326588|326592|326600|326604|332793|332794|332804|332812|332816|332823|332824|334427|334430|334434|334454|334461|334463|334464|725273|870416|870417|870418|870421|870422|870423|870424|870425|870426|870427|872290|872291", + "text": "Tryptophan 5-monooxygenase deficiency" + }, + { + "baseId": "18204|18205|18206|18207|18208|18209|18210|18211|18212|18214|76481|76482|76485|76486|166057|186669|186670|186671|186672|186673|186674|250852|288245|288246|288247|288249|288250|288255|288257|288261|289014|289017|289018|289023|289024|289025|289026|289027|289029|289040|289044|291939|291940|291941|291944|291956|292080|292082|292085|292087|292093|292095|292100|292104|292106|357267|357268|357269|357270|357271|357272|357273|357274|357275|357276|357277|357278|357279|357280|357281|357282|357283|357284|357285|357286|431010|443336|518931|542749|542750|542899|542904|542905|542930|542942|542943|542945|630755|651023|651058|708487|720097|720098|720099|720100|720101|733711|733712|743981|747916|763537|779013|779016|819312|827319|827320|827321|827322|857330|887704|887705|887706|887707|887708|887709|887710|887711|887712|887713|887714|887715|891553|891554|891555|917797|917798|917799|917800|917801|917802|922990|943257|953298|959675|960504", + "text": "Alkaptonuria" + }, + { + "baseId": "18215|18216|18217|18218|18219|18220|18221|34598|34599|34600|34601|34602|34603|34604|237114|255196|255197|255198|255199|255200|255201|255202|255203|255204|255205|255206|255207|255208|322476|322477|322484|322486|322487|322489|322490|322491|322500|322501|331841|331855|331859|331862|331868|331870|331871|331876|331877|331885|338834|338839|338840|338850|338858|338862|338866|338873|338874|340439|340440|340445|340446|340447|340448|340451|340453|340459|340462|340472|340475|340476|340481|340491|340493|340494|340497|340498|340504|340506|620510|620511|620512|703207|703208|730991|744751|754440|754443|760339|760341|776151|798685|816003|873448|873449|873450|873451|873452|873453|873454|873455|873456|873457|873458|873459|873460|873461|873462|873463|873464|873465|873466|873467|873468|873469|873470|873471|873472|873473|873474|873475|873476|873477|873478|873479|873480|873481|873482|873483|873484|873485|873486|873487|873488|873489|873490|873491|873492|873493|873494|873495|873496|873497|873498|876499|876500|876501|876502|876503|876504|876505|876506|876507|876508|981905|981906|981907|981908|981909|981910", + "text": "Congenital dyserythropoietic anemia, type I" + }, + { + "baseId": "18223|18224|18225|18226|18229|18230|18231|191263|196043|268075|268448|271762|274992|331416|331417|331418|331420|331425|331426|331428|331429|331434|341735|341736|341740|341742|341748|341749|347094|347098|347099|347100|347101|347104|347110|347113|347115|347116|348420|348421|348425|348426|348427|348429|348430|348431|348433|348439|745219|801767|971103|980383", + "text": "Dyggve-Melchior-Clausen syndrome" + }, + { + "baseId": "18228|18232|196043|271762|274992|348421|348427|745219", + "text": "Smith-McCort dysplasia 1" + }, + { + "baseId": "18233|726755|726758|731091|740317|875844|875845|875846|875847|875848|875849|875850|875851|875852|875853|875854|875855|875856|875857|875858|875859|875860|875861|875862|875863|875864|875865|875866|875867|875868|875869|875870|876710|876711|876712|876713|876714|876715|876716", + "text": "North american indian childhood cirrhosis" + }, + { + "baseId": "18234|18235|18235|18236|18237|34388|34389|34390|34390|34391|34392|34393|34394|34395|34396|34397|219162|259872|359661|424393|424394|424395|444151|539969|539970|539971|798587|798588|799087|799088|917739", + "text": "Shwachman-Diamond syndrome 1" + }, + { + "baseId": "18235|29761", + "text": "Aplastic anemia, susceptibility to" + }, + { + "baseId": "18235|24628|26378|26794|27037|28369|31377|31396|39135|49142|191253|191285|214736|225852|263345|263349|263350|263362|263372|271513|274206|360852|360853|361051|362158|362159|422029|424961|432334|444151|513922|514152|514161|514188|514195|590099|590815|590816|590817|590818|590819|590820|590821|590822|590823|590824|590825|590826|590827|590828|590829|590830|590831|590832|590833|590834|590835|590836|590837|590838|590839|590840|590841|590842|590843|590844|590845|590846|590847|590848|590849|590850|590851|590852|590853|590854|590855|590856|590857|590858|590859|590860|590861|590862|590863|590864|590865|590866|590867|590868|590869|590870|590871|590872|590873|590874|590875|590876|590877|590878|590879|590880|590881|590882|590883|590884|590885|590886|590887|590888|590889|590890|590891|590892|590893|590894|590895|590896|590897|590898|590899|590900|590901|590902|590903|590904|590905|590906|590907|590908|590909|590910|590911|590912|590913|590914|590915|590916|590917|590918|590919|590920|590921|590922|590923|590924|590925|590926|590927|590928|590929|590930|590931|590932|590933|590934|590935|590936|590937|590938|590939|590940|590941|590942|609036|609079|625988|632104|679688|742154|789799|802087|811184|861055|861056|861144|904239|904355|906373|917759|961035|961911|964072|965543|970283|980554", + "text": "Short stature" + }, + { + "baseId": "18235|171866|171867|171874|201030|444151", + "text": "Deeply set eye" + }, + { + "baseId": "18235|29701|30694|444151|513937|514003|578008|920542", + "text": "Splenomegaly" + }, + { + "baseId": "18235|444151", + "text": "Agenesis of permanent teeth" + }, + { + "baseId": "18235|21985|22362|22363|22364|27768|27769|27770|27771|27772|28758|28759|34390|47528|47713|47715|47720|47722|47724|47725|47726|47727|47731|47732|47887|47889|47890|47893|47895|47896|47897|47900|47902|116904|132522|132527|133309|133320|133322|133328|133329|133330|133331|150860|152273|173541|173543|173678|180277|180279|180298|182874|182897|188057|207165|221794|229237|229238|229239|229240|233702|239625|239629|239631|239634|239640|239641|239643|239645|239663|239675|251613|251614|251640|263518|295008|295009|295015|295110|295271|296781|296915|296945|300499|300506|300507|300508|300575|300731|300771|300775|300921|318362|318365|326480|326482|332736|332738|332744|334359|334360|334364|395064|395070|454179|454310|454390|455105|455107|458623|458714|474812|520445|521005|525349|564457|614326|620457|632878|639123|830021|870370|870371|870372|870373|870374|870375|872287|892690|892691|892692|892693|892694|892695|892732|892816|892865|892866|892867|892868|892869|966333", + "text": "Aplastic anemia" + }, + { + "baseId": "18235", + "text": "Shwachman syndrome" + }, + { + "baseId": "18238|18239|18240|18241|18242|18244|18245|18251|18253|18254|18255", + "text": "Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4" + }, + { + "baseId": "18238|18248|18249|44800|44801|44802|44803|44804|99414|99415|99422|99423|99427|99430|141086|172234|177707|258524|267706|270708|270811|272253|274716|306414|306420|306421|306425|306429|306430|306435|306437|306441|306442|306448|306450|306453|310558|310560|310561|310562|310565|310566|310568|310570|315893|315894|315900|315902|315903|315932|315934|315936|315938|315953|315954|316150|316151|316159|316192|316193|316194|316203|316207|316212|316214|316217|316237|316238|370133|370429|425809|444327|487362|490975|493234|687329|900763|900764|900765|900766|900767|900768|900769|900770|900771|900772|900773|900774|900775|900776|900777|900778|900779|900780|900781|900782|900783|900784|900785|900786|900787|900788|900789|900790|900791|900792|900793|900794|900795|900796|900797|900798|900799|900800|900801|903288", + "text": "Dilated cardiomyopathy 1X" + }, + { + "baseId": "18239|18242|18245|18247|18250|18254|18255|18289|18294|19258|19260|19262|19265|19268|19271|19272|19274|44800|44801|44802|44803|44804|48203|88473|99418|99422|99423|99425|99426|99428|101351|101354|101357|101358|101361|101362|101365|101366|101369|102000|102001|102002|102004|102006|102007|102009|134502|134503|134504|135451|135452|135453|135454|135455|135456|135457|135458|135459|141083|172235|172237|172238|172240|172243|172256|177166|177258|177259|177298|177615|177707|192022|192124|192433|192664|192666|193612|194501|194503|194505|194508|194510|194511|207636|207637|207638|207639|208611|208612|215392|227329|240441|240442|243353|243354|243355|243356|243357|243358|253344|253346|253348|257156|258521|258523|258524|258525|258527|258528|259909|265500|265520|266068|266413|266482|266484|266518|266657|267103|267275|267302|267502|267542|267688|267706|267989|267996|268211|268292|268295|268719|269029|269035|269126|269292|269411|269533|269542|269696|269890|269937|269957|269961|270049|270072|270195|270267|270269|270337|270708|270955|271057|271136|271145|271954|272041|272240|272253|272424|272837|272898|273031|273167|273207|273327|273371|273478|273488|273581|273590|273709|273710|273802|273959|274327|274331|274414|274452|274716|274839|274840|274865|274914|275344|275362|275408|307098|311223|316159|316166|316819|316821|337988|347603|352488|357769|360906|369657|370133|370426|372055|372355|376625|376626|377578|377793|396373|396378|396381|396385|396662|396788|403271|403274|403314|403324|403336|403756|403763|403765|403783|403792|403795|403804|407567|415662|421718|425809|425827|425828|428891|428943|428945|430243|444328|444330|446151|446153|458142|458157|458171|458468|458469|458491|458499|458672|458677|458748|458752|458910|458920|458925|458927|458953|458956|458960|459180|459433|459435|468898|468907|468909|468910|468912|469917|469918|469919|470326|470334|470339|470342|470343|470347|470349|471029|471035|487362|488613|488654|489100|489644|489693|489774|490975|491064|491104|491348|492332|492979|493234|493415|493516|493619|493624|497113|502846|506906|507457|507890|509994|513986|523851|523854|523856|523857|524089|524091|524134|524136|524138|524381|524382|524386|524427|524430|524456|524459|524462|524465|524589|524601|524645|524647|524649|533082|533084|533085|533161|533164|533166|533170|533191|533194|533603|533605|533608|533609|536991|544599|544919|545153|548879|548952|549195|549376|562633|562639|562849|563267|563272|563283|563578|563582|563585|563586|565312|565360|565362|565364|565366|565589|565593|565595|568325|568328|568332|568333|568585|570852|570859|570864|570865|570868|570871|570873|570874|572544|572546|573189|573192|574995|577095|577811|585141|585328|587990|588970|589359|589399|589486|619935|637554|637555|637556|637557|637558|637559|637560|637561|637562|637563|637564|637565|637566|637567|637568|637569|637570|637571|637572|637792|637793|637794|637795|637796|637797|637798|637799|637800|637801|648182|648183|648184|648185|648186|648187|648188|648189|648190|648191|648192|648193|648194|648195|648196|648197|651861|651884|652026|653461|655879|684836|687329|687330|689106|689108|692548|692601|694467|694468|705103|705104|711808|716550|728286|742003|744461|757138|759853|766975|767172|772756|772757|772763|772764|772765|777724|777980|783205|789374|792576|820036|820037|820038|820079|821266|821267|835302|835303|835304|835305|835306|835307|835308|835309|835310|835311|835312|835313|835314|835315|835316|835591|835592|835593|835594|835595|835596|835597|835598|835599|835600|835601|835602|835603|835604|835605|835606|835607|835608|847768|847769|847770|847771|847772|847773|847774|847775|847776|847777|847778|847779|847780|847781|847782|925310|925311|925312|925313|925314|925315|925414|928995|928996|928997|928998|928999|934490|934491|934492|934493|934580|934581|934582|934583|934584|938731|938732|938733|938734|938735|938736|938737|940918|940927|946283|946284|946285|946286|946287|946288|946402|946403|946404|946405|946406|946407|946408|946409|950823|950824|950825|950826|950827|950828|950829|955619|955620|955621|955622|955715|955716|958659|958660|958661|958662|958663|958664|958665|958666|958667|958668|958669|958670|959915|974535|974536", + "text": "Walker-Warburg congenital muscular dystrophy" + }, + { + "baseId": "18242|18243|18246|18247|18252|99427|227329|267706|270708|444327|487362|490975", + "text": "Limb-girdle muscular dystrophy-dystroglycanopathy, type C4" + }, + { + "baseId": "18242|18247|18250|18252|18254|18255|44800|44801|44802|44803|44804|99414|99415|99422|99423|99427|99427|99428|99430|141086|172233|172234|177258|177707|227329|227329|258524|266076|267706|270708|270811|272253|274716|306405|306413|306414|306420|306421|306425|306429|306430|306435|306437|306441|306442|306448|306450|306453|310558|310560|310561|310562|310565|310566|310567|310568|310570|315893|315894|315900|315902|315903|315932|315934|315936|315937|315938|315939|315953|315954|316150|316151|316159|316166|316192|316193|316194|316203|316207|316212|316214|316217|316237|316238|357764|357765|357766|357767|357768|357769|370133|370429|424236|425808|425809|444327|487362|487362|490975|493234|544599|544600|544602|544604|544612|544916|544919|544924|544929|544936|545040|545046|545052|545055|545153|545156|545158|545160|545169|654524|687329|900763|900764|900765|900766|900767|900768|900769|900770|900771|900772|900773|900774|900775|900776|900777|900778|900779|900780|900781|900782|900783|900784|900785|900786|900787|900788|900789|900790|900791|900792|900793|900794|900795|900796|900797|900798|900799|900800|900801|903288", + "text": "Fukuyama congenital muscular dystrophy" + }, + { + "baseId": "18242", + "text": "FKTN-Related Disorders" + }, + { + "baseId": "18243|18260|18277|18278|18279|18280|18291|18293|18294|19259|19260|101064|101354|101358|101366|101368|101370|101440|135452|169759|172243|181432|192127|207637|207638|209351|243357|266484|267706|269411|270072|270708|271145|273031|273802|273959|403314|438420|444327|458920|458925|468910|487362|490975|493648|572942|573399|623149|679729|789374|920265|961646|970897", + "text": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1" + }, + { + "baseId": "18247|18256|99427|227329|267706|270708|444327|487362|490975", + "text": "Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4" + }, + { + "baseId": "18257|18258|18258|18259|18260|18260|18260|18261|18263|18264|18264|18265|18266|18268|18270|18274|18275|90519|101434|101440|101440|101441|101442|101442|101444|135460|135462|142489|142491|172251|177619|191249|191410|191563|191811|192026|192127|192127|192128|194956|208125|208127|255075|266224|266480|266641|266684|267076|267270|267346|267714|268226|268293|268687|269207|269304|269387|269459|272179|272998|273355|273831|273920|274002|274442|330790|330792|337437|337445|373193|421995|429591|441683|441684|445254|445255|445256|463515|463517|463531|464142|464147|464150|464399|464401|464525|464527|464533|489095|491600|493925|505548|528311|528315|528385|528387|528770|528773|528775|528850|536875|566635|566641|566642|566653|566657|566658|566661|566666|566667|568306|568311|568313|568314|568318|569041|569046|572930|572932|572933|572942|572942|572943|578516|583398|586245|589116|642739|642740|642741|642742|642743|642744|642745|642746|642747|642748|642749|642750|642751|642752|642753|642754|642755|652981|672092|693602|693603|693604|693606|760116|778216|791424|797076|841845|841846|841847|841848|841849|841850|841851|841852|841853|841854|841855|841856|851589|927181|927182|927183|927184|927185|927186|927187|936750|936751|936752|936753|936754|941068|941069|948703|948704|948705|948706|948707|957320|957321|957322|957323|980951", + "text": "Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2" + }, + { + "baseId": "18258|18260|18260|18260|18261|18262|18263|18263|18264|18267|18268|18270|18273|90519|101434|101440|101440|101441|101442|101444|135460|135462|142489|142491|172251|177619|191249|191410|191563|191811|192026|192127|192127|192128|194956|208125|208127|255075|266224|266480|266641|266684|267076|267270|267346|267714|268226|268293|268687|269207|269304|269387|269459|272179|272998|273355|273831|273920|274002|274442|330790|330792|337437|337445|373193|421995|429591|441683|441684|445254|445255|445256|463515|463517|463531|464142|464147|464150|464399|464401|464525|464527|464533|489095|491600|493925|505548|528311|528315|528385|528387|528770|528773|528775|528850|536875|566635|566641|566642|566653|566657|566658|566661|566666|566667|568306|568311|568313|568314|568318|569041|569046|572930|572932|572933|572942|572942|572943|578516|583398|586245|589116|622905|642739|642740|642741|642742|642743|642744|642745|642746|642747|642748|642749|642750|642751|642752|642753|642754|642755|652981|672092|693602|693603|693604|693606|760116|778216|797076|841845|841846|841847|841848|841849|841850|841851|841852|841853|841854|841855|841856|851589|927181|927182|927183|927184|927185|927186|927187|936750|936751|936752|936753|936754|941068|941069|948703|948704|948705|948706|948707|957320|957321|957322|957323", + "text": "Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2" + }, + { + "baseId": "18258|18260|18260|18263|18264|18268|18268|18269|90519|101434|101435|101436|101440|101440|101440|101441|101442|101444|135460|135461|135462|135462|135463|142489|142491|142491|172251|172251|177619|177619|191249|191410|191410|191563|191811|191811|192026|192026|192127|192127|192128|194956|194956|195714|208125|208125|208127|255074|255075|255075|266224|266480|266641|266641|266684|267076|267270|267346|267714|268226|268293|268687|269207|269304|269387|269459|272179|272998|273355|273831|273920|274002|274442|321465|321472|321473|321479|321481|321482|321484|321488|321492|321493|321498|321502|321504|321505|321512|330734|330742|330747|330754|330756|330764|330773|330782|330784|330790|330790|330792|330792|330795|330799|330803|337383|337386|337387|337398|337406|337416|337418|337426|337437|337437|337438|337445|337445|337448|339411|339416|339428|339431|339432|339435|339442|339447|339449|339450|339451|339458|339461|339468|339470|339471|339472|339481|373193|421995|421995|429591|441683|441684|445254|445255|445256|463515|463517|463531|464142|464147|464150|464399|464401|464525|464527|464533|489095|491600|493925|493925|505548|528311|528315|528385|528387|528770|528773|528775|528850|536875|566635|566641|566642|566653|566657|566658|566661|566666|566667|568306|568311|568313|568314|568318|569041|569046|572930|572932|572933|572942|572942|572943|578516|583398|586245|589116|620494|642739|642740|642741|642742|642743|642743|642744|642745|642746|642747|642748|642749|642750|642751|642752|642753|642754|642755|652981|672092|693602|693603|693604|693606|760116|778216|797076|802194|841845|841846|841847|841848|841849|841850|841851|841852|841853|841854|841855|841856|851589|872716|872717|872718|872719|872720|872721|872722|872723|872724|872725|872726|872727|872728|872729|872730|872731|872732|872733|872734|872735|872736|872737|872738|872739|872740|872741|872742|872743|872744|872745|872746|872747|872748|872749|872750|872751|876454|876455|876456|876457|927181|927182|927183|927184|927185|927186|927187|936750|936751|936752|936753|936754|941068|941069|948703|948704|948705|948706|948707|957320|957321|957322|957323", + "text": "Limb-girdle muscular dystrophy-dystroglycanopathy, type C2" + }, + { + "baseId": "18260|19274|19531|22745|29517|29534|29564|32660|32660|32660|39363|45812|55854|75127|77662|77669|77828|100211|169757|169759|171246|198685|206864|208124|208126|227736|231238|244072|260934|265299|267026|269979|360820|360828|361070|402756|427644|427646|427648|427649|427651|427652|427654|427656|431009|486836|497353|513914|514134|624113|676965|677274|801165|918201|977393", + "text": "Muscular dystrophy" + }, + { + "baseId": "18276|142384|142386|142388|142390|211449|211454|211455|310102|310104|310108|315164|315174|315176|315186|315191|321181|321183|321197|321751|321752|321754|321756|321769|362103|362104|503326|620360|701300|865753|865754|865755|865756|865757|865758|865759|865760", + "text": "Coenzyme Q10 deficiency, primary, 2" + }, + { + "baseId": "18281|18283|18284|18285|18287|18288|18289|18290", + "text": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1" + }, + { + "baseId": "18282|18289|18294|48033|48034|88473|101351|101354|101354|101354|101356|101357|101357|101358|101358|101358|101359|101361|101361|101362|101362|101365|101365|101366|101366|101368|101369|101369|101370|101370|135451|135451|135452|135452|135452|135453|135453|135454|135454|135455|135455|135456|135456|135457|135457|135458|135459|135459|172243|172243|177259|177613|177615|177615|177977|192022|192124|192433|192664|192664|192666|193612|207636|207636|207637|207637|207638|207638|207639|207639|215392|253334|253344|253344|253346|253348|253348|253349|265500|265520|266413|267302|267688|268211|268211|268295|269126|269292|269292|269411|269411|269542|269890|269937|270049|270072|270072|270267|270267|270337|271145|271145|272240|272424|272664|272837|273031|273031|273031|273167|273581|274327|274865|274952|275344|307095|307096|307098|307098|307105|307106|307113|307114|307118|311220|311223|311223|311224|311225|311230|311235|311243|311244|316799|316800|316807|316812|316819|316819|316821|316821|316823|316827|317237|317239|317254|317258|317271|360906|360906|372355|407567|421718|425827|425827|425828|428943|428945|428945|458468|458469|458491|458499|458910|458920|458920|458925|458925|458927|458953|458956|458960|459433|459435|488613|489100|489100|489644|489774|490430|491064|492332|493415|493516|493516|493624|493648|513986|513986|524089|524091|524381|524382|524386|524589|524591|524601|524645|524647|524649|562849|562849|563578|563582|563585|563586|565589|565593|565595|568585|577095|585328|589486|619935|637792|637793|637794|637795|637796|637797|637798|637799|637800|637801|692601|711808|744461|767172|777724|777980|789374|790847|820079|835591|835592|835593|835594|835595|835596|835597|835598|835599|835600|835601|835602|835603|835604|835605|835606|835607|835608|901192|901193|901194|901195|901196|901197|901198|901199|901200|901201|901202|901203|901204|901205|901206|901207|901208|901209|901210|901211|903325|903326|925414|934580|934581|934582|934583|934584|940927|946402|946403|946404|946405|946406|946407|946408|946409|955715|955716|959915", + "text": "Limb-girdle muscular dystrophy-dystroglycanopathy, type C1" + }, + { + "baseId": "18282|18289|18291|18294|88473|101351|101351|101354|101354|101357|101358|101358|101361|101362|101365|101366|101366|101368|101369|101370|135451|135452|135452|135453|135454|135455|135456|135457|135458|135459|172243|177259|177615|192022|192124|192433|192664|192666|193612|207636|207637|207637|207638|207638|207639|215392|253344|253346|253348|265500|265520|266413|267302|267688|268211|268295|269126|269292|269411|269411|269542|269890|269937|270049|270072|270072|270267|270337|271145|271145|272240|272424|272837|273031|273031|273167|273581|274327|274865|275344|307098|311223|316819|316821|360906|372355|407567|421718|425827|425828|428943|428945|458468|458469|458491|458499|458910|458920|458920|458925|458925|458927|458953|458956|458960|459433|459435|481449|488613|489100|489644|489774|491064|492332|493415|493516|493624|493648|513986|524089|524091|524381|524382|524386|524589|524601|524645|524647|524649|553357|562849|563578|563582|563585|563586|565589|565593|565595|568585|577095|585328|589486|619935|637792|637793|637794|637795|637796|637797|637798|637799|637800|637801|692601|711808|744461|767172|777724|777980|789374|820079|835591|835592|835593|835594|835595|835596|835597|835598|835599|835600|835601|835602|835603|835604|835605|835606|835607|835608|925414|934580|934581|934582|934583|934584|940927|946402|946403|946404|946405|946406|946407|946408|946409|955715|955716|959915", + "text": "Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1" + }, + { + "baseId": "18294|619935", + "text": "POMT1-Related Disorders" + }, + { + "baseId": "18295|18296|174227|191826|191932|195729|221701|229603|239953|240084|252826|252829|252833|252836|395644|395653|395883|396007|396300|396302|457167|457169|457350|457354|457775|457778|522655|522665|522667|522672|522673|522920|523089|523091|523300|561597|561599|561601|561607|561608|561946|561948|564295|564297|564308|636146|636147|636148|636149|636150|636151|636152|636153|683892|683895|683896|683897|685221|687049|687051|687052|687053|766266|833595|833596|833597|833598|833599|833600|933887|933888|940878|945631|945632|945633|945634|945635|955158", + "text": "Ciliary dyskinesia, primary, 6" + }, + { + "baseId": "18297|18304|91653|330763|330772|330774|330776|330786|330791|330797|330811|340979|340993|340997|341002|341011|341014|341016|346288|346574|346595|347885|347899|347903|347907|347916|347925|353478|353479|437708|485783|485784|485785|485786|485787|485788|485789", + "text": "Glucocorticoid Deficiency" + }, + { + "baseId": "18306|18307|18308|18309|18316|18318|34532|34533|221088|227841|238199|238203|238204|238205|238207|249584|270565|278143|278144|278145|278146|278147|278148|278154|278155|278156|278157|278159|278160|278162|278163|278164|278165|278166|278167|278168|278169|278170|278171|278172|278173|278174|278175|278177|278179|278183|278189|278190|279123|279128|279130|279143|279148|279149|279150|279151|279168|279171|279172|279174|279176|279177|279178|279182|279183|279288|279289|279290|279291|279292|279293|279296|279302|279303|279304|279305|279306|279307|279312|279313|279323|279334|279341|279350|279352|279355|390964|498135|550797|863087|863088|863089|863090|863091|863092|863093|863094|863095|863096|863097|863098|863099|863100|863101|863102|863103|863104|863105|863106|863107|863108|863109|863110|863111", + "text": "Hyperparathyroidism 2" + }, + { + "baseId": "18309|18310|18313|18314|18315|18317|18319|18320|34532|34533|34534|34535|34536|34538|34539|50287|137580|137581|221088|238199|238200|238201|238202|238203|238204|238205|238206|238207|249584|263993|270565|278143|278144|278145|278146|278147|278148|278154|278155|278156|278157|278159|278160|278162|278163|278164|278165|278166|278167|278168|278169|278170|278171|278172|278173|278174|278175|278177|278179|278183|278189|278190|279123|279128|279130|279143|279148|279149|279150|279151|279168|279171|279172|279174|279176|279177|279178|279182|279183|279288|279289|279290|279291|279292|279293|279296|279302|279303|279304|279305|279306|279307|279312|279313|279323|279334|279341|279350|279352|279355|390715|390723|390726|390933|390937|390938|390941|390943|390946|390947|390948|390950|390952|390953|390954|390955|390956|390957|390958|390959|390961|390962|390964|390965|390966|390972|390974|390975|390979|390982|390983|390984|390986|390992|390997|390998|391006|391007|391008|391010|391014|391025|421191|446914|446953|447332|447337|447341|447342|447344|447349|447353|447441|447443|447450|447459|447461|447465|447472|447479|447480|447543|447547|447551|447560|447561|447564|447565|447566|447568|447575|447577|447579|447580|447581|447583|447586|447587|447596|447598|447600|447608|488909|498135|514884|515323|515326|515327|515331|515336|515350|515367|515368|515370|515374|515379|515380|515382|515383|515395|515396|515399|515404|515406|515408|515410|515411|515413|515414|515416|550797|556495|556496|556498|556716|556718|556720|556763|556765|556767|557072|557074|557076|557078|557080|558254|558256|558258|558260|558262|558264|558266|558268|621064|627165|627166|627167|627168|627169|627170|627171|627172|627173|627174|627175|627176|627177|627178|627179|627180|627181|627182|627183|627184|627185|627186|627187|627188|627189|627190|627191|627192|627193|627194|627195|650541|650568|650572|650602|650674|650699|650700|683294|683295|683296|685594|685596|685598|685599|685601|690432|690434|690435|690436|695020|696338|696340|718469|718470|718471|729946|731954|745932|761412|761415|761416|761418|777045|777048|778760|778795|780407|780408|787032|787035|789894|789895|818877|818878|818879|818880|818881|818882|818883|818884|818885|818886|818887|818888|818889|818890|823076|823077|823078|823079|823080|823081|823082|823083|823084|823085|823086|823087|823088|823089|823090|823091|823092|823093|823094|823095|823096|823097|823098|823099|823100|823101|823102|823103|823104|823105|823106|823107|850748|850947|850949|850951|851261|863087|863088|863089|863090|863091|863092|863093|863094|863095|863096|863097|863098|863099|863100|863101|863102|863103|863104|863105|863106|863107|863108|863109|863110|863111|921768|921769|921770|921771|921772|921773|921774|921775|921776|921777|921778|930195|930196|930197|930198|930199|930200|930201|930202|930203|930204|941610|941611|941612|941613|941614|941615|941616|941617|952168|952169|952170|952171|952172|952173|952174|952175|952176|952177|952178|952179|952180|960415|960416", + "text": "Parathyroid carcinoma" + }, + { + "baseId": "18309|18311|18315|31746|34532|221088|238199|238203|238204|238205|238207|249584|278143|278144|278145|278146|278147|278148|278154|278155|278156|278157|278159|278160|278162|278163|278164|278165|278167|278168|278169|278170|278171|278172|278173|278174|278177|278179|278183|278189|278190|279123|279128|279130|279143|279148|279149|279151|279168|279171|279172|279174|279176|279178|279182|279288|279289|279290|279291|279292|279293|279296|279303|279304|279305|279306|279307|279312|279313|279323|279334|279341|279350|279355|362383|390964|498135|550797|823082|863087|863088|863089|863090|863091|863092|863093|863094|863095|863096|863097|863098|863099|863100|863101|863102|863103|863104|863105|863106|863107|863108|863109|863110|863111", + "text": "Hyperparathyroidism 1" + }, + { + "baseId": "18312", + "text": "Cystic parathyroid adenoma" + }, + { + "baseId": "18315|31728", + "text": "Parathyroid adenoma, somatic" + }, + { + "baseId": "18317|360845", + "text": "Parathyroid adenoma" + }, + { + "baseId": 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+ "text": "Neurofibromatosis, type 2" + }, + { + "baseId": "18323|18324|22879|27637|622844|623015", + "text": "Meningioma" + }, + { + "baseId": "18337|18338|18339|23065|23067|23068|23069|23070|39158|131900|138996|243651|243652|243654|337610|337611|337626|347199|347201|347202|351195|351197|351200|351201|351204|352216|352217|352219|379825|403764|403825|403839|470130|534095|534181|574062|574080|626284|814999|890931|890932|890933|890934|890935|890936|890937|890938|890939|891811", + "text": "Schwannomatosis 1" + }, + { + "baseId": "18340|18341|18342|18343|227256", + "text": "Hypotrichosis 7" + }, + { + "baseId": "18342|18343|18344|18345|39626|227256", + "text": "Woolly hair, autosomal recessive 2, with or without hypotrichosis" + }, + { + "baseId": "18346|18347|18348|18349|18350|18351|18353|18354|18356|44322|44323|44324|44325|44326|44327|44328|44329|44330|44331|44332|44333|44334|70860|70861|70862|79109|79113|79116|79118|79119|79120|79123|92766|133778|133779|133781|133782|133783|133784|133785|133786|133787|133789|187064|187065|187066|237374|257475|260243|260244|264768|264972|269613|270113|272046|358649|358650|358651|358652|358653|358654|358655|358656|358657|358658|358659|358660|358661|358662|358663|378471|378564|378566|410884|439465|442315|469681|469686|469694|469696|470746|471557|471706|471707|471710|471711|480510|487965|533761|533944|533945|533954|533985|533987|533990|533994|534465|534468|534473|534474|549055|549058|549060|549062|549068|549072|549127|549129|549133|549134|549135|549139|549142|549143|549147|549149|549151|549278|549282|549283|549285|549286|549287|549290|549293|549294|549428|549429|549430|549431|549432|549433|549434|549435|549436|549461|571599|571601|571603|571605|571607|573149|573154|573156|573162|573848|573849|573850|575179|575180|575181|575182|575183|577902|612336|621648|624691|649022|649023|649024|649025|649026|649027|649028|649029|649030|649031|649032|649033|649034|649035|649036|649037|649038|649039|649040|649041|649042|649043|649044|653168|653253|653256|653576|653579|705729|717236|717237|717238|717239|717240|728933|728934|728935|728936|728937|728938|728939|728940|728941|742671|742672|742673|742674|742675|742676|742677|742678|742679|742680|742681|745138|745140|757852|757853|757854|757855|757856|757859|757860|760919|773373|773374|773375|773376|773377|773378|773379|773380|776701|776738|776820|776824|776950|780158|786510|786511|786512|786514|786516|786517|786522|786523|788083|792009|792010|794330|821378|848859|848860|848861|848862|848863|848864|848865|848866|848867|848868|848869|848870|848871|852402|852403|929346|929347|929348|929349|929350|939136|939137|939138|951258|951259|951260|951261|958972|958973|958974|958975|958976|958977|958978|958979|958980|958981|958982|958983|958984|958985|958986|958987|958988|958989|960951|960952|961986|961987|972362|972363|972364|972365|980046|980047|980048|980049|980050|980051|980052|980053|980054|980055|980056|980057|980969", + "text": "Polyglandular autoimmune syndrome, type 1" + }, + { + "baseId": "18348|18354", + "text": "Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia" + }, + { + "baseId": "18352", + "text": "Autoimmune polyglandular syndrome type 1, autosomal dominant" + }, + { + "baseId": "18357|18358|18359|18360|18361|18362|18363|18364|18365|18366|18367|18368|178178|192518|192520|192521|192522|192523|215781|257373|257376|265875|267619|270740|271079|271347|335795|335796|335799|335808|345499|345503|345508|350120|351165|351166|470471|491705|571309|575119|575120|585756|648776|648777|653103|694564|742464|848479|848480|848481|904881|919920|939010", + "text": "Duane-radial ray syndrome" + }, + { + "baseId": "18369|613173|971150", + "text": "IVIC syndrome" + }, + { + "baseId": "18371|203649|203656|203676|203679|363960|410787|446280|521089", + "text": "Tobacco addiction, susceptibility to" + }, + { + "baseId": "18372|31801", + "text": "Nicotine dependence, protection against" + }, + { + "baseId": "18373|18374|177381|195456", + "text": "Retinitis pigmentosa 9" + }, + { + "baseId": "18375|18376|18377|18378|18379|18380|18381|18382|18383|18384|18385|18386|18387|18388|18390|85484|103278|103300|103306|103307|103309|103310|103311|286076|286077|286084|286097|286098|286103|286104|286113|286117|286118|286120|289134|289135|289136|289149|289161|289174|289485|289487|289495|359429|361962|390701|428054|434112|450852|450859|450861|450863|450986|451158|451161|451163|451173|485696|485697|485698|485699|485700|485701|485702|485703|485704|485705|485706|485707|518178|538628|538637|540523|540524|553315|558430|560619|613977|650798|818724|819019|884773|884774|884775|884776|884777|884778|884779|884780|884781|884782|884783|884784|884785|884786|884787|884788|884789|884790|906314|961421|961596|975669", + "text": "3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency" + }, + { + "baseId": "18386", + "text": "STEROID 5-ALPHA-REDUCTASE POLYMORPHISM" + }, + { + "baseId": "18389|18390|966614", + "text": "Micropenis" + }, + { + "baseId": "18391|18392|18393|789839|800347|918553|920125|970488", + "text": "Retinitis pigmentosa 18" + }, + { + "baseId": "18394|18395|18396|18397|18398|39623|39624|337230|337234|337281|343449|343460|343488|345040|345046|345047|361007|537271|791677|791678|800001|800002|800003|800004|800005|800006|919705|919706|919707|919708", + "text": "Retinitis pigmentosa 13" + }, + { + "baseId": "18399|18400|18401", + "text": "Retinitis pigmentosa 35" + }, + { + "baseId": "18399|18400|18401|101927|177056|191424|192532|249423|270752|276617|276618|276621|276622|276623|276624|276625|276627|276628|276629|276630|276631|276634|276635|276881|276882|276883|276888|276892|276893|276894|277463|277475|277477|277478|277540|277541|277551|277562|587547|696153|696154|718275|731767|731768|745740|794454|862424|862425|862426|862427|862428|862429|862430|862431|862432|862433|862434|862435|862436|862437|864996", + "text": "Cone-rod dystrophy 10" + }, + { + "baseId": 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+ "text": "Multiple fibrofolliculomas" + }, + { + "baseId": "18402|18406|18409|18410|18411|18412|18414|18418|50295|50296|50302|91258|102362|102368|102379|102380|102383|102387|138162|138165|151439|171188|177708|184490|184494|235483|242608|242613|247653|256084|327429|327433|327434|327438|327442|327445|327448|327449|327454|327464|327465|327466|327467|337300|337305|337309|337316|337319|337320|337326|337327|337331|343533|343538|343546|343547|343554|343555|343556|343559|343560|343563|343564|343576|343577|343578|343580|343584|343586|343587|343588|343597|345088|345090|345094|345100|345101|345104|345106|345109|345110|401553|402305|467111|467177|467353|478542|530769|531169|621851|813009|813048|876878|876879|876880|876881|876882|876883|876884|876885|876886|876887|876888|876889|876890|876891", + "text": "Pneumothorax, primary spontaneous" + }, + { + "baseId": "18402|420622|623700", + "text": "Birt-Hogg-Dub\u00e9 Syndrome" + }, + { + "baseId": "18407|27687|29987", + "text": "Chromophobe renal cell carcinoma" + }, + { + "baseId": 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3|698574|698574|698575|698582|698583|698584|698585|698586|698586|698587|698587|698588|698588|698589|698590|698590|698591|698591|698592|698592|709394|709395|709396|709402|709402|709403|721007|721008|721009|721010|721010|721016|721017|721018|721028|721029|721030|721031|730294|730295|730295|734666|734666|734667|734673|734674|734678|734679|734679|734680|734682|734683|734684|734684|744111|744169|748988|748991|748996|748997|748998|748999|748999|749000|749000|749007|749008|749010|749010|749011|749012|749012|749013|749013|749014|749015|749016|749017|749018|749018|749019|749019|759317|759338|759338|759340|759536|759537|764561|764564|764566|764569|764572|764575|764576|764577|764578|764579|764580|764586|764586|764587|764589|764590|764593|764595|777338|777349|777349|777351|777460|777518|777522|777524|777524|777529|777529|781996|781997|782004|782006|782007|782008|782011|782012|782016|782017|782017|787216|787286|787386|792555|792556|799363|799367|819493|819494|819495|819496|829403|829404|829405|829406|829407|829408|829409|829410|829411|829412|829413|829429|829430|829431|829432|829433|829434|829435|850994|850996|851520|851524|890812|890813|890814|890815|890816|890817|890818|890819|890820|890821|890822|891801|891890|891891|891892|891893|891894|891895|891912|891913|891914|891915|891916|891917|891918|891919|891920|891920|891921|891922|891923|891924|891925|891926|891927|891928|891929|891930|891931|891932|891933|891934|891935|891936|891937|891938|891939|891940|891941|891942|891943|891944|891945|891946|891947|891948|891949|891950|891951|891952|891953|891954|891955|891956|891957|891958|891959|891960|891961|891962|891963|891964|891965|891966|891967|891968|891969|891970|891971|891972|891973|891974|891975|891976|891977|891978|891979|891980|891981|891982|891983|891984|891985|891986|891987|891988|891989|891990|891991|891992|891993|891994|891995|891996|891997|895981|895982|895983|895984|895985|906241|906282|923593|923594|923595|923596|923599|923600|932426|932427|939970|939971|939972|940783|940784|940785|940786|944093|944094|944095|944099|953827|953828|953829|953835|953836|953837|953838|953839|953840|953841|959735|960542|974484|978099|978100|978101|978102|978103|978104|978105|978106|978107", + "text": "Ellis-van Creveld syndrome" + }, + { + "baseId": "18421|18422|18423|18425|18426|18427|20378|20379|20381|20381|108172|108173|108174|177698|190666|190667|190667|190672|190925|191296|191445|191446|191604|191605|191606|191845|191846|192586|192701|192702|194543|194545|195444|196350|237112|237142|251506|251507|251510|251511|251514|251519|251521|251523|251524|251527|251538|251545|251546|251550|264195|265359|265939|265940|265941|267316|267360|267369|267614|269089|269145|269346|269346|270797|270800|272370|272381|274903|275031|293703|293710|293711|293717|293721|293734|293737|293739|293752|293753|293792|293800|293801|293805|293806|293809|293813|293824|293836|293838|293852|293853|295104|295109|295111|295115|295118|295120|295121|295174|295176|295178|295185|295186|295188|298757|298758|298760|298763|298770|298773|298778|298779|298788|298789|298848|298855|298863|298868|298874|298898|298901|298912|298914|298916|298921|298924|298930|298931|298932|298947|298952|298953|298954|298959|298964|298967|298973|298978|298979|299046|367645|367648|368025|369161|369164|406448|414971|421490|428300|428315|439075|440097|440100|440102|440103|440104|443623|453514|453524|453526|453755|453761|453770|453967|454335|454337|454339|481378|488640|489350|489929|490073|490157|491198|491698|493522|500552|500849|500853|520493|520495|520520|536669|536671|536673|543136|543147|543152|543168|543211|543440|543442|543457|543461|543472|543485|543491|543493|543494|543496|543511|543512|543520|543521|543529|543541|543548|543556|543567|543569|543571|543577|543633|543646|543650|559803|559805|559807|559942|561849|562238|562240|564029|564044|584151|584155|586895|609545|609550|632439|632440|632441|632442|632443|632444|632445|632446|632448|632449|632450|632451|632452|632453|651117|651171|651201|651203|651278|691596|691597|691598|691599|691600|691601|695242|698554|698555|698556|698557|698559|698560|698561|698562|698563|698564|698565|698566|698567|698568|698569|698570|698571|698572|698573|698574|698575|698582|698583|698584|698586|698587|698588|698589|698590|698591|698592|709394|709395|709396|709402|709403|721007|721008|721009|721010|721016|721017|721018|721028|721029|721030|721031|730294|730295|734666|734667|734673|734674|734678|734679|734680|734682|734683|734684|744111|744169|748988|748991|748996|748997|748998|748999|749000|749007|749008|749010|749011|749012|749013|749014|749015|749016|749018|749019|759317|759338|759340|759536|759537|764561|764564|764566|764569|764572|764575|764576|764577|764578|764579|764580|764586|764587|764590|764593|764595|777338|777349|777351|777460|777518|777522|777524|777529|781997|782004|782006|782007|782008|782011|782012|782016|782017|787216|787286|787386|819493|819494|819495|819496|829403|829404|829405|829406|829407|829408|829409|829410|829411|829412|829413|829429|829430|829431|829432|829433|829434|829435|850994|850996|851520|851524|891920|918898|923593|923594|923595|923596|923599|923600|932426|932427|939970|939971|939972|940783|940784|940785|940786|944093|944094|944095|944099|953827|953828|953829|953835|953836|953837|953838|953839|953840|953841|959735|960542", + "text": "Curry-Hall syndrome" + }, + { + "baseId": "18422|20377|20379|39385|39386|48583|101405|101406|101407|191055|196284|205144|205144|260870|260871|260872|260876|260878|260883|267604|267965|272806|292774|292775|292776|292794|292797|292810|292816|292821|292826|294135|294139|294152|294153|294158|294160|294161|294162|294164|294165|294174|294181|294186|294206|294210|294212|294213|294214|294224|294225|294227|297588|297589|297590|297599|297600|297603|297604|297610|297619|297627|297691|297702|297709|297710|297711|297713|297729|297731|297740|297742|297743|297744|297757|297758|353902|393400|406421|425298|428289|440056|440060|440061|440065|440066|440069|440070|440076|440077|440078|440079|440080|440081|440082|440084|440100|440102|440103|440116|440197|440212|440218|453053|453343|453344|453827|500505|500796|520076|520146|536036|536038|561972|561972|561973|563590|609533|632088|632089|632090|655598|698430|720836|734517|734518|748806|828957|828958|890423|890424|890425|890426|890427|890428|890429|890430|890431|890432|890433|890434|890435|890436|890437|890438|890439|890440|890441|890442|890443|890444|890445|890446|890447|890448|890449|890450|890451|890452|890453|890454|890455|891771|891772|891773|891774|891775|891776|918887|918888|918889|923466|923467|932251|943900|943901", + "text": "Short rib-polydactyly syndrome, Majewski type" + }, + { + "baseId": "18428|18429|18430|18431|18432|18433|57120|57123|57124|57126|173795|173936|229093|271879|290706|290708|290712|291620|291622|294814|294815|294816|294823|294825|295225|295228|295242|889102|889103|889104|889105|889106|889107|889108|889109|889110|889111|889112|889113|889114|889115|889116", + "text": "Deafness, autosomal recessive 6" + }, + { + "baseId": "18434", + "text": "Inflammatory bowel disease 14, susceptibility to" + }, + { + "baseId": "18434|18435|18436", + "text": "Systemic lupus erythematosus 10" + }, + { + "baseId": "18435|19934|20788|23514|23948|24585|556475|569444|581729|581829|816330|961210|961211|961212|961213|961214|961215|961216|961217|980478", + "text": "Rheumatoid arthritis" + }, + { + "baseId": "18437", + "text": "Systemic lupus erythematosus, association with susceptibility to, 10" + }, + { + "baseId": "18438|18439|18440|18441|18442|18444|101568|101569|101570|101571|101572|101574|101575|101576|101578|101579|101580|101582|101583|166179|176932|176932|177195|177610|177884|177885|188781|191062|191574|191822|191927|191928|192769|192771|192774|193193|193299|193632|193632|193792|212105|212108|221109|221110|221111|227216|237104|238338|238339|238340|238341|238342|249993|250002|250006|250008|250010|250011|265418|266814|267000|268051|268051|269236|271042|271044|271333|271488|272410|272772|272959|273564|274125|274311|275340|275394|275394|280972|280973|280976|280977|280978|280979|280984|280985|280985|280988|281526|281527|281535|281536|281550|281551|281556|281559|281564|281565|281570|281571|281572|281573|281583|281588|282746|282749|282757|282760|282761|282762|282765|282769|282770|282778|282780|282783|283011|283015|283017|283018|283019|283022|283024|283025|283026|283037|283038|283040|283041|283060|283071|283079|283085|283086|448220|448255|448260|448383|488677|491412|492399|492399|492789|493121|493144|493743|493743|494108|494158|515992|583704|584746|585392|586278|620008|683376|683377|683378|685820|818171|818172|818173|824285|864664|864665|864666|864667|864668|864669|864670|864671|864672|864673|864674|864675|864676|864677|864678|864679|864680|864681|864682|864683|865195|865196|952487|962670|962822|962823|962824", + "text": "Nephronophthisis 4" + }, + { + "baseId": "18440", + "text": "Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities)" + }, + { + "baseId": "18440|54320|861136", + "text": "Infertility" + }, + { + "baseId": "18443|18444|101568|101569|101570|101571|101574|101575|101576|101578|101579|101580|101582|101583|166179|176932|176932|177195|177610|177884|185958|188781|191062|191574|191822|191927|191928|192769|192771|192774|193193|193299|193632|193632|193792|212105|212108|221109|221110|221111|227216|237104|238338|238339|238340|238341|238342|249993|250002|250006|250008|250010|250011|265418|266814|267000|268051|268051|269236|271042|271044|271333|271488|272410|272772|272959|273564|274125|274311|275340|275394|275394|280972|280973|280976|280977|280978|280979|280984|280985|280985|280988|281526|281527|281535|281536|281550|281551|281556|281559|281564|281565|281570|281571|281572|281573|281583|281588|282746|282749|282757|282760|282761|282762|282765|282769|282770|282778|282780|282783|283011|283015|283017|283018|283019|283022|283024|283025|283026|283037|283038|283040|283041|283060|283071|283079|283085|283086|448220|448255|448260|448383|488677|490490|491412|492399|492789|493144|493743|493743|494108|494158|515992|583704|584746|585392|586278|620008|683376|683377|683378|685820|800349|824285|864664|864665|864666|864667|864668|864669|864670|864671|864672|864673|864674|864675|864676|864677|864678|864679|864680|864681|864682|864683|865195|865196|918643", + "text": "Senior-Loken syndrome 4" + }, + { + "baseId": "18445|94419|94420|94421|94422|307585|307587|307595|307597|307599|307600|307604|307607|307609|307611|311847|311853|311854|311860|311868|311870|311878|311880|317409|317410|317411|317413|317420|317424|317431|317440|317441|317455|317460|317462|317881|317889|317894|317896|317905|317906|317914|317934|458907|458912|459257|459259|459324|459326|524346|524349|524353|524360|524361|524447|524646|524667|524811|524818|524821|524950|524959|563027|563029|563031|563033|563781|565756|565757|565759|565761|565772|620325|624382|624383|638032|638033|638034|638035|638036|638037|638038|638039|638040|638041|638042|638043|638044|638045|638046|700891|711862|723453|723454|723455|737007|751549|767283|767284|779310|787795|835829|835830|835831|835832|835833|835834|835835|835836|835837|835838|835839|835840|835841|835842|835843|835844|835845|835846|835847|901517|901518|901519|901520|901521|901522|901523|901524|901525|901526|901527|901528|901529|901530|903351|903352|903353|925493|925494|925495|925496|925497|925498|925499|925500|934649|934650|934651|934652|934653|934654|946497|946498|946499|946500|946501|946502|946503|946504|946505|946506|955755", + "text": "Candidiasis, familial, 2" + }, + { + "baseId": "18446|18447|18448|18449|48147|48149|48150|83245|213954|213955|256546|256549|264886|330548|330553|330556|330557|330560|330568|330569|330572|330575|330577|340789|340792|340795|340796|340799|340800|340802|340808|340810|340814|340815|340821|340824|346397|346398|346407|346409|346413|346421|346423|346424|346425|346426|346431|346432|346434|347740|347748|347757|347761|347765|347769|347771|378843|612325|620893|622254|727556|741196|878805|878806|878807|878808|878809|878810|878811|878812|878813|878814|878815|878816|878817|878818|878819|878820|878821|878822|880624|880625|880626|880627|880628|961341|971100|983336|983337|983338|983339|983340|983341|983342|983343|983344|983345|983346|983347|983348|983349|983350|983351|983352|983353|983354|983355|983356|983357|983358|983359|983360|983361|983362", + "text": "Autosomal recessive congenital ichthyosis 3" + }, + { + "baseId": "18450|18451|18453|18454|18454|18455|18456|18456|18457|18458|18458|18459|18460|18461|18462|39609|48590|48590|107258|214529|214529|249696|249696|249698|249699|249699|249701|249702|259649|278696|278697|278701|278704|278707|278710|278714|278714|278718|278718|278719|278726|278884|278885|278886|278887|278889|278890|278893|278894|278896|278908|278911|278912|278913|278913|278916|278917|280044|280045|280046|280047|280050|280052|280053|280054|280057|280058|280059|280060|280069|280070|280074|280086|280086|280087|280090|280160|280163|280168|280169|280171|280172|280173|280174|280175|353093|384611|442706|442706|447481|447486|447617|447621|447728|447730|447732|447734|447762|447762|447764|447771|488149|515460|515527|515530|515540|515570|550578|556782|556853|557145|558343|609015|627348|627349|627350|627351|627352|695024|696431|823304|823305|823306|823307|823308|823309|861039|863422|863423|863424|863425|863426|863427|863428|863429|863430|863431|863432|863433|863434|863435|863436|863437|863438|863439|863440|863441|863442|865106|865107|920552|920553|920554|930267|939794|941687|941688|952231|969768|983928", + "text": "Van der Woude syndrome" + }, + { + "baseId": "18452|18453|18453|18454|18454|18456|18458|18462|39609|39610|39611|48590|214529|249225|249696|249699|259649|278714|278718|278912|278913|280044|280086|280169|280171|346490|346491|350730|353093|442706|447481|447486|447728|447730|447734|447762|447764|515460|515527|515530|515540|515570|556782|556853|557145|558343|627348|627349|627350|627351|627352|695024|823304|823305|823306|823307|823308|823309|930267|939794|941687|941688|952231|964990", + "text": "Popliteal pterygium syndrome" + }, + { + "baseId": "18453|18454|18456|18458|48590|214529|249696|249696|249698|249699|249699|249701|259649|278696|278701|278704|278707|278710|278714|278714|278718|278718|278719|278884|278885|278886|278887|278889|278890|278893|278894|278896|278908|278911|278913|278913|278916|280045|280046|280047|280050|280052|280053|280054|280057|280058|280059|280060|280069|280070|280074|280086|280086|280087|280160|280163|280168|280172|280173|280174|280175|442706|447481|447486|447728|447730|447734|447762|447764|515460|515527|515530|515540|515570|556782|556853|557145|558343|627348|627349|627350|627351|627352|695024|696431|823304|823305|823306|823307|823308|823309|863422|863423|863424|863425|863426|863427|863428|863429|863430|863431|863432|863433|863434|863435|863436|863437|863438|863439|863440|863441|863442|865106|865107|930267|939794|941687|941688|952231|970008|970009|970010", + "text": "Orofacial cleft 6, susceptibility to" + }, + { + "baseId": "18463|193649|321711|321715|321717|321726|321727|321733|321740|321744|321745|321747|321748|330958|330972|330977|330978|330981|330985|330987|330989|330990|330995|331001|331002|331006|331007|331013|331016|337716|337722|337724|337733|337735|337741|337742|337747|337751|337758|337762|339746|339748|339750|339751|339756|339762|339772|590793|619926|620497|793519|793520|872880|872881|872882|872883|872884|872885|872886|872887|872888|872889|872890|872891|872892|872893|872894|872895|872896|872897|872898|872899|872900|872901|872902|872903|872904|872905|872906|872907|872908|872909|872910|872911|872912|876463", + "text": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1" + }, + { + "baseId": "18464|18465|39608|135500|135500|135501|310050|310059|315063|315074|315092|321107|321110|321671|321672|321688|321690|321696|429047|444587|540020|865722|865723|865724|865725|865726|865727|865728|865729|865730|865731|865732", + "text": "Diabetes mellitus, permanent neonatal, with cerebellar agenesis" + }, + { + "baseId": "18466|18467|18468|18469|18470|140732|140734|140736|140737|239295|239296|393772|394187|394191|394208|452818|453596|453599|453600|519647|519922|621894|631840|631841|689747|734338|819426|828626|828627|828628|918866|923374|943731|943732|972513", + "text": "Atrioventricular septal defect 2" + }, + { + "baseId": "18468", + "text": "Atrioventricular septal defect, partial, with heterotaxy syndrome" + }, + { + "baseId": "18471|171814|428536|615412", + "text": "Hermansky-Pudlak syndrome 7" + }, + { + "baseId": 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+ "text": "Fanconi anemia, complementation group A" + }, + { + "baseId": 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+ "text": "Fanconi anemia" + }, + { + "baseId": "18488|18489|18490|18491|18492|142515|166367|166368|166369|262052|266582|335812|335816|335818|345515|345516|345522|345523|345525|350125|350129|350131|350132|351175|351176|351178|626012|684889|791992|805115|806425|806426|886285|886286|886287|886288|886289|886290|886291|886292|886293|886294|886295|886296|886297|886298", + "text": "Kallmann syndrome 3" + }, + { + "baseId": "18496|18497|131958|135815|181436|186187|213100|213101|213102|241738|241739|319416|319420|319422|319423|319428|319429|319432|319440|319448|319449|319453|327971|327972|327994|328001|328002|328010|328011|334295|334302|334303|334304|334305|334312|334313|334314|334325|334326|334330|334339|334343|336018|336019|336029|336031|336032|336038|336039|336040|336041|336050|336057|373533|399424|400175|409023|462907|463264|463266|463616|463846|463848|504262|505178|527718|527721|528075|567565|620470|641925|684417|840877|871134|871135|871136|871137|871138|871139|871140|871141|871142|871143|871144|871145|871146|871147|871148|871149|871150|871151|871152|871153|871154|871155|871156|871157|871158|871159|871160|871161|871162|871163|871164|871165|872328", + "text": "Troyer syndrome" + }, + { + "baseId": "18498|18499|18500|18501|18502|18503|18504|18505|18505|18506|18506|18507|18507|18509|18511|18513|18513|18515|18519|18520|18521|18522|48596|98664|98665|98665|125923|213987|215434|254136|264422|264422|264534|268523|273854|274086|274286|274286|313856|313863|313867|313877|313885|313886|313886|313889|320069|320084|320102|320108|320134|320135|320166|320197|326246|326248|326255|326256|326258|326272|326276|327203|327206|327207|327222|327224|327242|327259|327276|327276|359933|359933|359935|360004|360006|360034|363631|363633|363634|363635|363636|363637|371403|408334|424510|424511|424512|424513|424514|424515|424516|424517|424518|424519|424520|424521|424521|424522|424523|424524|424525|424525|424526|424527|424528|424529|424530|424531|424532|424533|424534|424535|424536|424537|424538|424539|424540|424541|424542|424543|424544|424545|424545|424546|424547|424548|424548|424549|424550|432304|432305|461049|461052|461052|461054|461056|461519|461520|461523|461844|461848|485940|485941|485942|485943|485943|485944|485945|485946|511911|525668|525674|525994|526296|526626|537152|550137|550336|550337|550338|550339|550340|550341|550342|550343|564093|565700|567201|567201|567202|567205|567205|571142|609013|624856|639953|639953|639954|639955|639955|639956|639957|652056|652159|652188|679779|752647|787757|788978|788979|788980|788981|788982|788983|788984|788985|788986|788987|788988|788989|788990|788991|788992|788993|788994|788995|788996|788997|788998|788999|789000|789001|789002|789003|789004|789005|789006|789007|789008|789009|789010|789011|789012|789013|789014|789015|789017|789018|789018|789019|789020|789021|789022|789023|789024|789025|789026|789027|789028|789030|789031|789032|789033|789034|789035|789036|789037|789038|789039|789040|789040|789041|789042|789043|789044|789045|789046|789047|789048|789049|789050|789051|789052|789053|789054|789055|789056|789057|789058|789059|789060|789061|789062|789063|789064|789064|789065|789066|789067|789068|789069|789070|789071|789072|789073|789074|789075|789076|789077|789078|789079|789080|789081|791127|791128|822053|838291|838292|838293|838294|838295|838296|838297|838298|852651|867828|867836|867843|867850|867856|926195|935491|935492|947410|947411|956463|956464|961905|963159", + "text": "Aniridia 1" + }, + { + "baseId": "18501", + "text": "Cataracts, congenital, with late-onset corneal dystrophy" + }, + { + "baseId": "18502", + "text": "ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE" + }, + { + "baseId": "18505|18506|18507|18513|18515|22776|22778|22783|39180|39724|79358|79359|79361|98344|98664|98665|136471|177657|177659|177660|177661|177947|181382|193745|195045|223604|223605|223616|223620|223629|223633|223639|223653|227244|251311|264422|267620|268523|274086|274286|286180|286182|286193|286194|286198|286203|286219|286222|286225|286231|286234|286936|286937|286939|286940|286946|286948|286949|286950|286952|286953|286957|286958|286959|286962|286963|286972|286981|286985|289251|289253|289257|289263|289265|289268|289274|289275|289276|289286|289289|289290|289291|289292|289293|289624|289628|289631|289633|289634|289635|289639|289655|289656|289660|289671|289672|292026|292032|292033|293465|296770|296771|296774|296776|296778|296779|296782|296783|296786|313870|313886|320062|320088|320089|320100|320112|320165|320174|320199|327204|327217|327218|327272|327276|359933|360034|371403|404760|424521|424525|424545|424548|461049|461052|461054|461056|461519|461520|461523|461844|461848|485943|492426|525668|525674|525994|526296|526626|550314|564093|565700|567201|567202|567205|571142|620087|639953|639954|639955|639956|639957|652056|652159|652188|691154|691155|691156|752647|781326|787757|789018|789040|789064|790957|822053|838291|838292|838293|838294|838295|838296|838297|838298|852651|884813|884814|884815|884816|884817|884818|884819|884820|884821|884822|884823|884824|884825|884826|884827|884828|884829|884830|884831|884832|884833|884834|884835|884836|884837|884838|884839|884840|884841|884842|884843|884844|884845|884846|884847|884848|884849|884850|884851|884852|884853|884854|884855|884856|884857|884858|884859|884860|884861|884862|884863|884864|889930|889931|889932|889933|889934|889935|889936|889937|889938|889939|889940|889941|889942|889943|889944|889945|889946|889947|889948|889949|889950|889951|889952|889953|889954|889955|889956|889957|889958|889959|889960|889961|889962|889963|889964|889965|889966|889967|889968|889969|889970|891736|891737|926195|935491|935492|947410|947411|956463|956464|976012|976013", + "text": "Irido-corneo-trabecular dysgenesis" + }, + { + "baseId": "18508", + "text": "Keratitis, autosomal dominant" + }, + { + "baseId": "18509|18518|215434|254136|274286|313856|313857|313862|313863|313867|313870|313872|313873|313874|313877|313885|313886|313888|313889|320061|320062|320069|320071|320080|320084|320087|320088|320089|320100|320102|320108|320111|320112|320114|320134|320135|320138|320142|320143|320145|320146|320147|320163|320165|320166|320167|320174|320197|320198|320199|326222|326244|326245|326246|326248|326251|326252|326255|326256|326257|326258|326270|326272|326273|326276|326277|327197|327203|327204|327206|327207|327214|327217|327218|327222|327223|327224|327241|327242|327259|327263|327272|327273|327276|327282|327283|612908|624856|789029|867820|867821|867822|867823|867824|867825|867826|867827|867828|867829|867830|867831|867832|867833|867834|867835|867836|867837|867838|867839|867840|867841|867842|867843|867844|867845|867846|867847|867848|867849|867850|867851|867852|867853|867854|867855|867856|867857|867858|867859", + "text": "Foveal hypoplasia and presenile cataract syndrome" + }, + { + "baseId": "18510", + "text": "Aniridia, atypical" + }, + { + "baseId": "18511", + "text": "Foveal hypoplasia 1 with cataract" + }, + { + "baseId": "18512", + "text": "ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES" + }, + { + "baseId": "18512", + "text": "Foveal hypoplasia 1 with or without anterior segment anomalies" + }, + { + "baseId": "18513|176785|225852|263283|263314|263410|360879|363377|513989|514048|514112|514188|514221", + "text": "Hypertelorism" + }, + { + "baseId": "18514|18516|625874|919355", + "text": "Coloboma of optic disc" + }, + { + "baseId": "18515|512990", + "text": "Optic nerve hypoplasia, bilateral" + }, + { + "baseId": "18516|22778|22783|79359|79360|79362|79363|79368|125921|361130|424443|625776|682221|682222|682223", + "text": "Congenital ocular coloboma" + }, + { + "baseId": "18517", + "text": "Optic nerve aplasia, bilateral" + }, + { + "baseId": 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+ "text": "Wilms tumor 1" + }, + { + "baseId": "18525|18526|18527|18532|18532|18533|18533|18536|18539|18539|18543|50286|89226|89228|89229|139192|139193|139194|139195|178637|190617|190618|195751|195752|241126|241127|241128|241130|241131|241132|241133|241134|241135|241136|241137|241138|241139|241140|254138|254142|254144|254145|254146|259981|274962|313918|313928|320269|326294|327340|327344|389922|398164|398167|398169|398176|398177|398179|398189|398197|398229|398232|398234|398235|398240|398242|398250|398251|398583|398585|398586|398587|398591|398608|398611|398612|398614|398623|398626|398646|398652|398668|398680|398687|398688|398691|398693|398699|444795|460431|461059|461061|461063|461070|461072|461077|461078|461080|461081|461083|461090|461238|461243|461244|461248|461254|461256|461260|461262|461264|461266|461269|461277|461281|461285|461287|461288|461294|461527|461531|461532|461545|461547|461548|461559|461560|461562|461564|461570|461571|461853|461855|461867|461869|461875|461881|461883|461887|503257|525996|526132|526135|526140|526148|526152|526155|526156|526160|526161|526164|526166|526170|526172|526174|526175|526181|526184|526186|526189|526192|526303|526305|526308|526319|526320|526324|526326|526330|526332|526335|526337|526341|526342|526353|526359|526363|526364|526369|526371|526632|526635|526639|526643|526648|526650|526661|526662|564594|564595|564597|564598|564602|564603|564607|565708|565714|565716|565722|565726|567207|567213|567214|567219|567224|567228|567233|570569|570575|570581|570588|570594|570598|570612|575843|639958|639959|639960|639961|639962|639963|639964|639965|639966|639967|639968|639969|639970|639971|639972|639973|639974|639975|639976|639977|639978|639979|639980|639981|639982|639983|639984|639985|639986|639987|639988|639989|639990|639991|639992|639993|639994|639995|639996|639997|639998|652058|652119|652190|652191|652534|684256|684257|684258|687767|687768|687770|687771|687772|687773|687774|687775|687776|693007|693008|693009|693011|693012|693013|695508|695509|695511|712789|724403|737941|737942|737943|737944|752650|752652|768419|768421|768422|768424|768427|777946|779535|783981|783983|783984|796568|820359|820360|820361|838299|838300|838301|838302|838303|838304|838305|838306|838307|838308|838309|838310|838311|838312|838313|838314|838315|838317|838318|838319|838320|838321|838322|838323|838324|838325|838326|838327|838328|838329|838330|838331|838332|838333|838334|838335|838336|838337|838338|838339|838340|838341|838342|838343|838344|838345|838346|838347|838348|838349|838350|851431|926196|926197|926198|926199|926200|926201|926202|926203|926204|926205|926206|926207|926208|926209|926210|926211|926212|926213|935493|935494|935495|935496|935497|935498|935499|935500|935501|935502|935503|935504|935505|935506|935507|935508|935509|935510|935511|935512|935513|940211|940212|940994|947412|947413|947414|947415|947416|947417|947418|947419|947420|947421|947422|947423|947424|947425|947426|947427|947428|947429|947431|956465|956466|956467|956468|956469|956470|956471|956472|956473|956474|956475|956476|961571", + "text": "Frasier syndrome" + }, + { + "baseId": "18526|18526|18527|18527|18528|18529|18530|18531|18532|18532|18533|18534|18535|18536|18536|18537|18539|50286|89226|89228|139192|139193|139194|139195|178637|190617|190618|195751|195752|226222|226223|241126|241127|241128|241130|241130|241131|241132|241133|241134|241135|241136|241137|241138|241139|241140|254138|254142|254144|254145|254146|259981|274962|313918|313928|320269|326294|326297|327340|327344|389922|398164|398167|398169|398176|398177|398179|398189|398197|398229|398232|398234|398235|398240|398242|398250|398251|398583|398585|398586|398587|398591|398608|398611|398612|398614|398623|398623|398626|398646|398652|398668|398680|398687|398688|398691|398693|398699|444795|444795|460431|461059|461061|461063|461070|461072|461077|461078|461080|461081|461083|461090|461238|461243|461244|461248|461254|461256|461260|461262|461264|461266|461269|461277|461281|461285|461287|461288|461294|461527|461531|461532|461545|461547|461548|461559|461560|461562|461564|461570|461571|461853|461855|461867|461869|461875|461881|461883|461887|503257|525996|526132|526135|526140|526148|526152|526155|526156|526160|526161|526164|526166|526170|526172|526174|526175|526181|526184|526186|526189|526192|526303|526305|526308|526319|526320|526324|526326|526330|526332|526335|526337|526341|526342|526353|526359|526359|526363|526364|526369|526371|526632|526635|526639|526643|526648|526650|526661|526662|537657|564594|564595|564597|564598|564602|564603|564607|565708|565714|565716|565722|565726|567207|567213|567214|567219|567224|567228|567233|570569|570575|570581|570588|570594|570598|570612|575841|575843|575847|575849|575851|612154|639958|639959|639960|639961|639962|639963|639964|639965|639966|639967|639968|639969|639970|639971|639972|639973|639974|639975|639976|639977|639978|639979|639980|639981|639982|639983|639984|639985|639986|639987|639988|639989|639990|639991|639992|639993|639994|639995|639996|639997|639998|652058|652119|652190|652191|652534|684256|684257|684258|687767|687768|687770|687771|687772|687773|687774|687775|687776|693007|693008|693009|693011|693012|693013|695508|695509|695511|712789|724403|737941|737942|737943|737944|752650|752652|768419|768421|768422|768424|768427|777946|779535|783981|783983|783984|791129|791130|791131|791132|796568|798642|820359|820360|820361|838299|838300|838301|838302|838303|838304|838305|838306|838307|838308|838309|838310|838311|838312|838313|838314|838315|838317|838318|838319|838320|838321|838322|838323|838324|838325|838326|838327|838328|838329|838330|838331|838332|838333|838334|838335|838336|838337|838338|838339|838340|838341|838342|838343|838344|838345|838346|838347|838348|838349|838350|851431|926196|926197|926198|926199|926200|926201|926202|926203|926204|926205|926206|926207|926208|926209|926210|926211|926212|926213|935493|935494|935495|935496|935497|935498|935499|935500|935501|935502|935503|935504|935505|935506|935507|935508|935509|935510|935511|935512|935513|940211|940212|940994|947412|947413|947414|947415|947416|947417|947418|947419|947420|947421|947422|947423|947424|947425|947426|947427|947428|947429|947431|956465|956466|956467|956468|956469|956470|956471|956472|956473|956474|956475|956476|961571", + "text": "Drash syndrome" + }, + { + "baseId": "18526|18544|139192|139194|190617|190618|195751|195752|241127|241134|241135|241136|241137|241138|241139|254138|254142|254144|254145|254146|254147|313892|313893|313895|313897|313901|313904|313905|313913|313914|313915|313918|313927|313928|313932|313933|313934|313935|313940|320204|320206|320208|320209|320213|320216|320218|320219|320220|320227|320232|320234|320235|320257|320268|320269|320282|320284|320286|320287|320288|320289|326278|326279|326280|326282|326283|326284|326285|326288|326289|326290|326291|326292|326294|326296|326297|326298|327285|327286|327287|327288|327296|327299|327300|327313|327320|327325|327326|327329|327331|327340|327344|327346|327353|398169|398176|398608|398668|503257|526359|737943|838321|838331|867860|867861|867862|867863|867864|867865|867866|867867|867868|867869", + "text": "Meacham syndrome" + }, + { + "baseId": "18526|18527|18529|18532|18534|18539|18541|139192|139194|190617|190618|190618|195751|195752|195752|241127|241134|241135|241136|241137|241138|241139|254138|254142|254144|254144|254145|254146|254147|313892|313893|313895|313897|313901|313904|313905|313913|313914|313915|313918|313927|313928|313932|313933|313934|313935|313940|320204|320206|320208|320209|320213|320216|320218|320219|320220|320227|320232|320234|320235|320257|320268|320269|320282|320284|320286|320287|320288|320289|326278|326279|326280|326282|326283|326284|326285|326288|326289|326290|326291|326292|326294|326296|326297|326298|327285|327286|327287|327288|327296|327299|327300|327313|327320|327325|327326|327329|327331|327340|327344|327346|327353|389922|398169|398176|398608|398668|432306|503257|513089|513090|526359|537657|590302|590303|623307|737943|838321|838331|861038|867860|867861|867862|867863|867864|867865|867866|867867|867868|867869|966658|966659", + "text": "Nephrotic syndrome, type 4" + }, + { + "baseId": "18526|18532|18533|18536|18539|50286|89226|89228|139192|139193|139194|139195|178637|190617|195751|215434|241126|241127|241128|241130|241131|241132|241133|241134|241135|241136|241137|241138|241139|241140|254136|254138|254142|254145|254146|259981|274286|274962|313856|313857|313862|313863|313867|313870|313872|313873|313874|313877|313885|313886|313888|313889|313895|313897|313901|313913|313918|313928|313932|320061|320062|320069|320071|320080|320084|320087|320088|320089|320100|320102|320108|320111|320112|320114|320134|320135|320138|320142|320143|320145|320146|320147|320163|320165|320166|320167|320174|320197|320198|320199|320206|320208|320216|320220|320227|320232|320235|320269|320282|320286|320288|320289|326222|326244|326245|326246|326248|326251|326252|326255|326256|326257|326258|326270|326272|326273|326276|326277|326279|326280|326283|326285|326288|326290|326294|326296|327197|327203|327204|327206|327207|327214|327217|327218|327222|327223|327224|327241|327242|327259|327263|327272|327273|327276|327282|327283|327288|327326|327340|327344|327346|327353|363632|389922|398164|398167|398169|398176|398177|398179|398189|398197|398229|398232|398234|398235|398240|398242|398250|398251|398583|398585|398586|398587|398608|398611|398612|398614|398623|398626|398646|398652|398668|398680|398687|398688|398691|398693|398699|444795|460431|461059|461061|461063|461070|461072|461077|461078|461080|461081|461083|461090|461238|461243|461244|461248|461254|461256|461260|461262|461264|461266|461269|461277|461281|461285|461287|461288|461294|461527|461531|461532|461545|461547|461548|461559|461560|461562|461564|461570|461571|461853|461855|461867|461869|461875|461881|461883|461887|503257|525996|526132|526135|526140|526148|526152|526155|526156|526160|526161|526164|526166|526170|526172|526174|526175|526181|526184|526186|526189|526192|526303|526305|526308|526319|526320|526324|526326|526330|526332|526335|526337|526341|526342|526353|526359|526363|526364|526369|526371|526632|526635|526639|526643|526648|526650|526661|526662|564594|564595|564597|564598|564602|564603|564607|565708|565714|565716|565722|565726|567207|567213|567214|567219|567224|567228|567233|570569|570575|570581|570588|570594|570598|570612|575843|613758|613865|639958|639959|639960|639961|639962|639963|639964|639965|639966|639967|639968|639969|639970|639971|639972|639973|639974|639975|639976|639977|639978|639979|639980|639981|639982|639983|639984|639985|639986|639987|639988|639989|639990|639991|639992|639993|639994|639995|639996|639997|639998|652058|652119|652190|652191|652534|684256|684257|684258|687767|687768|687770|687771|687772|687773|687774|687775|687776|693007|693008|693009|693011|693012|693013|695508|695509|695511|712789|724403|737941|737942|737943|737944|752650|752652|768419|768421|768422|768424|768427|777946|779535|783981|783983|783984|796568|820359|820360|820361|838299|838300|838301|838302|838303|838304|838305|838306|838307|838308|838309|838310|838311|838312|838313|838314|838315|838317|838318|838319|838320|838321|838322|838323|838324|838325|838326|838327|838328|838329|838330|838331|838332|838333|838334|838335|838336|838337|838338|838339|838340|838341|838342|838343|838344|838345|838346|838347|838348|838349|838350|851431|867828|867836|867842|867843|867849|867850|867856|926196|926197|926198|926199|926200|926201|926202|926203|926204|926205|926206|926207|926208|926209|926210|926211|926212|926213|935493|935494|935495|935496|935497|935498|935499|935500|935501|935502|935503|935504|935505|935506|935507|935508|935509|935510|935511|935512|935513|940211|940212|940994|947412|947413|947414|947415|947416|947417|947418|947419|947420|947421|947422|947423|947424|947425|947426|947427|947428|947429|947431|956465|956466|956467|956468|956469|956470|956471|956472|956473|956474|956475|956476", + "text": "Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome" + }, + { + "baseId": "18526|20399|20400|20404|20407|21119|71146|76004|178865|178866|186603|186605|249552|249553|249555|249558|249560|278593|278595|440413|496597|540658|540697|540699|540708|540722|587964|672259|672260|672261|672262|731895|731896|745857|758855|761348|774413|794271|794272|801218|862851|977467|977468|977469", + "text": "Steroid-resistant nephrotic syndrome" + }, + { + "baseId": "18526|18539|20399|21119|21120|71146|76004|186603|801123", + "text": "Nephrotic range proteinuria" + }, + { + "baseId": "18532|18539|178740|224420|224550|496597", + "text": "Hereditary nephrotic syndrome" + }, + { + "baseId": "18538|21289|21302", + "text": "Mesothelioma" + }, + { + "baseId": "18546|18548|18549|18550|98626|135259|135260|135261|166175|177328|177328|190732|191490|195864|212119|237153|238354|267761|271582|272606|281552|281554|281560|281574|281578|282227|282229|282230|283553|283553|283554|283555|283689|283710|283715|427871|446900|448554|448755|490032|557488|585870|614128|880833|880834|880835|880836|880837|880838|880839|880840|880841|880842|880843|880844|880845|882778|882779|882780|882781|962849", + "text": "Nephronophthisis 1" + }, + { + "baseId": "18549|620733", + "text": "NPHP1-Related Disorders" + }, + { + "baseId": "18550|98626|135259|135260|135261|166175|177328|177328|190732|191490|195864|212119|237153|271582|272606|281552|281554|281560|281574|281578|282227|282229|282230|283553|283553|283554|283555|283689|283710|283715|448554|490032|557488|585870|880833|880834|880835|880836|880837|880838|880839|880840|880841|880842|880843|880844|880845|882778|882779|882780|882781", + "text": "Senior-Loken syndrome 1" + }, + { + "baseId": "18550|98626|135259|135260|135261|166175|177328|177328|190732|191490|195864|212119|214377|237153|271582|272606|281552|281554|281560|281574|281578|282227|282229|282230|283553|283553|283554|283555|283689|283710|283715|448554|490032|557488|585870|628412|880833|880834|880835|880836|880837|880838|880839|880840|880841|880842|880843|880844|880845|882778|882779|882780|882781|961829|970705", + "text": "Joubert syndrome 4" + }, + { + "baseId": "18551|18552|18553|18554|18555|18556|296509|314504|314505|314507|314508|314512|314516|321162|321164|321167|321168|321185|321186|321187|321191|321195|321196|321199|321203|321204|321206|321207|321208|327250|327257|327258|327262|327270|327271|327274|327275|327298|327309|327311|327312|328328|328329|328330|328332|328333|328334|328335|328343|328346|328349|328350|328366|328368|328376|328377|328378|620411|620412|620413|620834|724567|738096|868217|868218|868219|868220|868221|868222|868223|868224|868225|868226|868227|868228|868229|868230|868231|868232|868233|868234|868235|868236|868237|868238|868239|868240|868241|868668", + "text": "Familial renal hypouricemia" + }, + { + "baseId": "18555", + "text": "Hereditary renal hypouricemia" + }, + { + "baseId": "18557|18558|18559|18560|18561|18562|18563|18564|18565|18567|18568|177842|185766|185787|191234|265996|266128|271357|276137|276378|276690|276694|276709|493520|514997|515062|556597|626680|626681|683277|683278|683279|683280|683282|683283|683284|685552|685555|685557|685558|685559|780282|977421", + "text": "Homocystinuria due to MTHFR deficiency" + }, + { + "baseId": "18557|18559|18560|18566|18567|185757|185758|185759|185760|185761|185762|185763|185764|185765|185766|185767|185768|185769|185770|185771|185772|185773|185774|185775|185776|185777|185778|185779|185780|185781|185782|185783|185784|185785|185786|185787|185788|185789|185790|185791|185792|185793|185794|185795|185796|185797|185798|190849|190849|193590|193591|196274|204439|204440|204441|224593|224594|224595|224596|224597|224598|265996|266128|270484|270967|271357|276136|276137|276378|276690|447010|447105|447135|489913|490856|491168|493520|513228|513229|514997|515060|515062|538939|556564|556597|556859|557004|581743|584639|626680|626681|626682|626683|626684|626685|626686|626687|626688|683277|683278|683279|683280|683281|683282|683283|683284|685085|685551|685552|685553|685554|685555|685557|685558|685559|685560|685561|689625|696017|706619|718127|718128|731622|745603|761103|761105|761107|774354|780282|788723|789826|816433|822590|822591|822592|822593|822594|850716|918546|929991|929992|952030|952031|961747|964643|969111|972777|983738", + "text": "Homocystinuria due to methylene tetrahydrofolate reductase deficiency" + }, + { + "baseId": "18559|18560", + "text": "MTHFR deficiency, thermolabile type" + }, + { + "baseId": 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+ "text": "Gastrointestinal stromal tumor" + }, + { + "baseId": "18559|352627", + "text": "cyclophosphamide response - Toxicity/ADR" + }, + { + "baseId": "18559|227806", + "text": "carboplatin response - Efficacy" + }, + { + "baseId": "18559|18560|190849|276134|276302|276341|276373|276374|276588|276599|276607|276639|276642|276655|276681|276682|276684|276708|276711|558389|789826", + "text": "Neural tube defects, folate-sensitive" + }, + { + "baseId": "18559", + "text": "methotrexate response - Dosage, Efficacy, Toxicity/ADR" + }, + { + "baseId": "18559|28341|28349|40578|153725|153726|190849|249498|249500|249502|249503|249504|249505|249506|249507|249508|249510|249511|249512|249513|249514|249515|249516|249517|249518|249520|249521|249522|249523|249524|249525|249526|254180|254181|254182|254183|254184|254185|277166|277168|277179|277180|277191|277192|277194|277195|277214|277219|277220|277221|277222|277225|277248|277249|277250|277252|277253|277254|277257|277260|277262|277263|277270|277272|277273|277294|277416|277422|277423|277427|277428|277435|277443|277444|277452|277454|277458|277459|277466|277467|277468|277471|277472|277474|277480|277482|277486|277489|277492|277494|277498|277504|277505|278219|278222|278240|278256|278260|278261|278262|278263|278264|278267|278268|278269|278270|278271|278278|278280|278281|278288|278289|278291|278295|278297|278298|278305|278307|278309|278310|278312|278316|278317|278318|278325|278328|278329|278330|278332|278334|278336|278338|278340|278341|278342|278343|278350|278351|278352|278360|278364|278373|278374|278383|314178|314179|314187|314188|314190|314191|320729|320749|320751|320758|320767|320768|326803|326804|326811|327765|327768|327769|327773|557032|558220|615287|619964|679780|706851|718365|718370|724459|745824|768463|777016|862698|862699|862700|862701|862702|862703|862704|862705|862706|862707|862708|862709|862710|862711|862712|862713|862714|862715|862716|862717|862718|862719|862720|862721|862722|862723|862724|862725|862726|862727|862728|862729|862730|862731|862732|862733|862734|862735|862736|862737|862738|862739|862740|862741|862742|862743|862744|862745|862746|862747|862748|862750|862751|862752|862753|865026|865027|865028|868030|868031|868032|868033|868034|868035|868650|868651|868652", + "text": "Thrombophilia due to thrombin defect" + }, + { + "baseId": "18560|19921|19922|27975|31809|32631", + "text": "Schizophrenia, susceptibility to" + }, + { + "baseId": "18569|18570|291146|291147|291154|291160|291161|291163|291165|291166|291174|291175|292123|292125|292127|292128|295512|295514|295515|295516|295518|295528|295530|295670|295671|295672|295674|295675|519428|586113|631587|708944|720536|720537|734167|748384|748385|748386|764022|764023|764024|764025|764026|781748|781749|819293|828357|889405|889406|889407|889408|889409|889410|889411|889412|889413|889414|889415|889416|923273|932024|943628|943629|953548|953549|977979|977980|977981|977982", + "text": "Deficiency of hyaluronoglucosaminidase" + }, + { + "baseId": "18571|39554|39589|48441|49863|50336|270015|270016|432334|551264|818298", + "text": "Osteogenesis imperfecta type 12" + }, + { + "baseId": "18573|18574|18575|18576|18577|18578|18579|18580|18581|18582|18583|18584|304606|304607|304611|304614|304615|304623|304624|304631|308325|308327|308340|308342|308343|308344|308346|308349|313367|313376|313378|313380|313390|313391|313401|313402|313406|313409|313485|313488|313491|313492|313495|313496|313497|313509|313510|313511|313518|313527|313529|313533|700483|711406|711407|722941|722942|722945|722947|736535|736536|736537|736538|736539|736540|736541|751008|751009|751010|751012|751014|751015|759623|766640|766643|766646|766647|766648|766653|766654|766655|766656|766657|766659|766662|775218|775307|775310|775453|783041|783044|783046|783047|787456|899088|899089|899090|899091|899092|899093|899094|899095|899096|899097|899099|899100|899101|899102|899103|899104|899105|899106|899107|899108|899109|899110|899111|899112|899113|899114|899115|899116|900456|900458|978445|978446|978447|978448|978449|978450|978451|978452|978453|978454", + "text": "Hereditary acrodermatitis enteropathica" + }, + { + "baseId": "18585|18586|18587|18588|513045|513046|918788|918789|918790|920184", + "text": "Retinitis pigmentosa 56" + }, + { + "baseId": "18589|152869|171853|188984|590270", + "text": "Macular dystrophy, vitelliform, 5" + }, + { + "baseId": "18590|133964|206584|206585|919552", + "text": "Azorean disease" + }, + { + "baseId": "18590|19327|19329|19334|19374|19924|21117|22718|22719|24765|29284|29286|29292|38891|70810|76576|99352|99354|102612|102613|102614|102615|102616|102617|104135|205699|205700|205701|209422|215776|215777|215778|227175|282298|282301|282313|282315|282316|282317|282318|282322|283004|283007|283008|284548|284551|284553|284563|284576|284952|284957|284958|284959|284969|422174|539073|553248|553277|590519|621703|801562|881245|881246|881247|881248|881249|881250|881251|881252|881253|881254|881255|881256|881257|881258|881259|881260|881261|881262|882817|917820|918675", + "text": "Parkinson disease, late-onset" + }, + { + "baseId": "18591|18592|18593|18594|18595|18596|70882|70883|70884|70885|70886|70887|70888|70889|70890|70891|70892|70893|70894|70895|70896|70897|70898|70899|70900|70901|70902|70903|70904|70905|70906|70907|70908|70909|70910|70911|70912|70913|70914|70915|70916|70917|70918|70919|70920|70921|70922|70923|70924|70925|70926|70927|70928|70929|70930|70931|70932|70933|70934|70935|99410|106584|134224|134225|134226|140483|140486|140488|140491|140492|190778|194871|194873|203258|203262|203273|203276|203280|203281|203288|203292|324885|324886|324887|324893|324895|324896|324903|324904|334497|334499|334502|334506|334507|334510|334518|341059|341060|341073|341075|342609|342612|342613|342620|358366|358367|358368|358369|358370|358371|358372|358373|358374|358375|409585|431789|431856|445556|466598|488832|488903|505547|506265|529889|547726|547744|547745|547747|547751|547757|547771|547999|548002|548476|548482|548484|574007|621850|653990|685418|801555|875048|875049|875050|875051|875052|875053|875054|875055|875056|875057|875058|876648|904206|972228", + "text": "Neuronal ceroid lipofuscinosis 3" + }, + { + "baseId": "18595|18596|70928|181569", + "text": "Ceroid lipofuscinosis, neuronal, 3, protracted" + }, + { + "baseId": "18595|203258|976713|976720|976721|976722|976723", + "text": "early onset and severe retinal dystrophy" + }, + { + "baseId": "18597|18598", + "text": "Apocrine gland secretion, variation in" + }, + { + "baseId": "18597", + "text": "Axillary odor" + }, + { + "baseId": "18597", + "text": "Colostrum secretion" + }, + { + "baseId": "18599|18600|57117|106526|106527|175784|175788|215510|215511|230615|389206|389247|612162|614517|622432|625877|626242|672206|857686", + "text": "Deafness, autosomal recessive 22" + }, + { + "baseId": "18601|18602", + "text": "Isovaleric acidemia, type I" + }, + { + "baseId": "18602|18606|18607|99951|99952|99955|99956|99957|99958|99959|99960|177782|186929|186930|186931|186932|195641|200287|200289|200290|200291|200292|255171|260065|264619|268474|273440|322394|322398|322399|322405|322406|322411|322413|322414|322415|322419|322427|322429|322434|322436|322437|331703|331705|331706|331708|331712|331714|331723|331727|331730|331732|331734|331736|331738|331744|331745|338690|338691|338693|338698|338701|338704|338705|338706|338716|338723|338726|338734|340376|340378|340379|358294|358295|358296|358297|358298|358299|358300|358301|360185|373411|373417|374074|374076|374487|445310|464753|464758|465003|465005|465007|465017|465019|465021|482064|504741|504748|504750|504754|505233|505235|528766|529149|529159|529288|547389|547393|547395|547397|547399|547410|547415|547480|547483|547484|547677|547685|547687|547689|547691|548001|548005|548010|548012|567013|573225|578519|581771|612307|615781|623116|650365|650368|650370|650373|650374|650378|650379|650380|652500|695641|730985|739578|754401|770126|770127|776357|784905|791444|791445|791446|820691|820692|820693|820694|820757|842281|842282|842283|842284|842285|842286|842287|842288|851610|873347|873348|873349|873350|873351|873352|873353|873354|873355|873356|873357|873358|873359|873360|873361|873362|873363|873364|873365|873366|873367|873368|873369|873370|873371|873372|873373|873374|873375|873376|873377|873378|873379|873380|873381|873382|876493|903602|927309|936914|948869|948870|957405|957406|960821|966799|979593|979594|979595|979596|979597|979598|979599|979600", + "text": "Isovaleryl-CoA dehydrogenase deficiency" + }, + { + "baseId": "18603", + "text": "Isovaleric acidemia, type III" + }, + { + "baseId": "18604", + "text": "Isovaleric acidemia, type II" + }, + { + "baseId": 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+ "text": "Medulloblastoma" + }, + { + "baseId": "18609|18610|18611|18613", + "text": "Medulloblastoma, desmoplastic" + }, + { + "baseId": 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933|955934|955935|955936|955937|955938|955939|955940|955941|955942|955943|955944|955945|955946|955968|955969|955970|955971|959924|959925|959927|960432|960708|960711|960712|961519|964335|964336|966345|974487", + "text": "Gorlin syndrome" + }, + { + "baseId": "18610", + "text": "SUFU-related disorders" + }, + { + "baseId": "18612|18613", + "text": "Medulloblastoma with extensive nodularity" + }, + { + "baseId": "18614|18616|18617|18618|18619|18620|18621|18622|18623|18624|206682|214870|215404|308685|308687|308689|308690|308692|308693|308695|308699|308701|308705|308709|308711|308713|308714|308716|308718|308719|308721|308725|308727|308728|308729|313271|313272|313279|313280|313282|313291|313295|313296|313302|313303|313304|313307|313308|319086|319087|319088|319092|319094|319096|319099|319101|319102|319103|319108|319117|319119|319121|319139|319146|319147|319148|319691|319698|319700|319701|319703|319705|319708|319712|319714|319739|319740|319755|319761|319763|319768|390703|418974|712019|723622|723623|737183|737185|737186|737192|751761|751763|759768|902305|902306|902307|902308|902309|902310|902311|902312|902313|902314|902315|902316|902317|902318|902319|902320|902321|902322|902323|902324|902325|902326|902327|902328|902329|902330|902331|902332|902333|902334|902335|902336|902337|902338|902339|902340|902341|902342|902343|902344|902345|902346|902347|902348|902349|902350|902351|902352|902353|902354|902355|902356|902357|902358|902359|902360|902361|902362|902363|902364|902365|902366|902367|903426|903427|903428|903429|903430|903561|963079", + "text": "Hypomagnesemia 1, intestinal" + }, + { + "baseId": "18625|18626|18627|18628|18629|18630|18631|18632|18633|18634|18635|18636|18637|18638|98164|98165|98167|98168|98169|98170|98172|98174|98177|98178|98179|139960|139961|186628|186629|186630|186631|186632|186634|190703|194776|195186|195540|196139|199969|199974|199975|199976|199977|199978|199980|199981|199982|227855|227856|227857|227858|227859|227860|227861|227862|227863|227864|227865|227866|227867|227868|227869|227870|227871|227872|227873|227874|227875|227876|227877|227878|227879|227880|227881|227882|227883|227884|227885|227886|227887|227888|227889|227890|227891|227892|227893|227894|227895|227896|227897|227898|227899|227900|227901|227902|227903|227904|227905|227906|227907|227908|227909|227910|227911|227912|227913|227914|250014|250016|259675|259676|265252|265253|265292|265314|281203|281206|281210|281214|281215|281218|281807|281830|281831|283050|283051|283054|283055|283058|283069|283082|283279|283280|283283|283284|283285|283287|283288|283289|283292|357128|357129|357130|357131|357132|357133|357134|357135|357136|357137|357138|357139|357140|357141|357142|357143|357144|357145|357146|357147|361160|365217|365402|365487|365490|405232|405233|425382|432496|432497|448232|448357|448360|448432|481600|486892|486927|486935|488974|498590|514913|516071|516107|516112|541251|541254|541257|541260|541262|541272|541284|541295|541299|541300|541301|541303|541307|541314|541324|541326|541330|541333|541340|541343|541351|541353|541358|541359|541360|541362|541363|541365|541366|541369|541370|541371|541372|556508|556884|557370|558587|558589|558591|558593|584803|621089|628255|628256|628257|628258|650762|650775|655126|685826|707514|732582|743772|759061|762074|762076|762077|780764|780765|780766|780767|789996|789997|798478|799225|816405|818993|818994|818995|818996|818997|818998|824404|824405|824406|824407|824408|824409|824410|824411|824412|824413|824414|824415|824416|824417|824418|824419|824420|851003|864810|864811|864812|864813|864814|864815|864816|864817|916829|922157|922158|922159|922160|922161|930658|930659|930660|942098|942099|942100|942101|942102|952522|952523|952524|952525|952526|959570|977562|977563|977564", + "text": "Medium-chain acyl-coenzyme A dehydrogenase deficiency" + }, + { + "baseId": "18640|18641|18642|18643|166364|166365|790421", + "text": "Hypogonadotropic hypogonadism 4 with or without anosmia" + }, + { + "baseId": "18644|18645|18646|18647|44205|49691|76634|76636|76637|76638|76639|76640|76641|76642|76643|76644|76645|94453|102033|102034|102035|102038|102039|102040|102041|102044|102045|102046|102047|102049|102050|102052|102054|102055|102056|102057|102060|134422|134423|134424|134426|134427|134428|134429|177693|177694|191433|191951|192055|192541|192542|192693|192694|192781|193681|193683|193684|194514|195420|195421|205761|207680|207681|207682|207683|207686|207688|207689|207690|207692|207694|223668|247037|247390|263822|265807|267217|267657|268640|269257|270621|270654|271435|307714|307718|307721|307727|307729|307748|307763|307764|311976|311979|311981|311982|311995|317633|317634|317635|317637|317649|317651|317677|317687|318112|318121|318141|318160|318172|353854|360911|360912|407642|413808|425215|428972|428976|428977|428978|428979|428984|431918|439131|459056|459060|459061|459069|459073|459083|459086|459367|459369|459375|459377|459379|459385|459387|459390|459424|459428|459442|459915|459916|459918|459919|459924|459926|459929|459932|459934|488898|489180|513433|524451|524453|524460|524466|524480|524742|524743|524746|524748|524750|524752|524757|524758|524761|524765|524768|524770|524886|524887|524888|524889|524891|524895|524899|524901|524903|525029|525032|525039|525041|525044|525046|552139|562597|563101|563106|563110|563112|563116|563120|563124|563140|563141|563238|563852|563853|563861|563862|563869|563871|565817|565819|565821|565822|565823|565825|565826|565828|565829|568869|568870|568878|568882|568883|568884|568889|568895|568900|568903|568906|568907|568908|568910|568924|579609|579629|579636|579663|579847|590783|611400|611401|611468|638113|638114|638115|638116|638117|638118|638119|638120|638121|638122|638123|638124|638125|638126|638127|638128|638129|638130|638131|638132|638133|638134|638135|638136|638137|638138|638139|638140|638141|638142|638143|638144|638145|638146|652052|652061|654132|654133|654158|682342|682812|692658|700925|700926|700927|700928|700929|700930|711898|723495|723496|723497|723499|737058|737061|744537|751607|751608|751610|751613|751616|751617|751619|751620|751621|759817|759902|767325|767329|767334|767338|767340|767343|767347|767352|775410|777989|783377|783382|787633|790876|790877|790878|790879|790880|790881|820033|820106|820107|820108|820109|822003|822004|822005|822006|822007|822008|822009|822010|822011|822012|822013|822014|822015|822016|822017|822018|822019|822020|822021|822270|822271|835952|835953|835954|835955|835956|835957|835958|835959|835960|835961|835962|835963|835964|835965|835966|835967|835968|835969|835970|835971|835972|835973|835974|835975|835976|835977|835978|835979|835980|835981|835982|835983|835984|835985|835986|851734|852505|919215|919216|919217|919218|919219|925528|925529|925530|925531|925532|925533|925534|925535|925536|925537|925538|925539|925540|925541|925542|925543|925544|925545|934688|934689|934690|934691|934692|934693|934694|934695|934696|934697|934698|934699|934700|934701|934702|934703|934704|940143|946544|946545|946546|946547|946548|946549|946550|946551|946552|946553|946554|946555|955779|955780|955781|955782|961614|961615|963153|964838|965439|967271|969275|969561|969786|970904|972722|974902|976027|980169|980334|980335", + "text": "Kleefstra syndrome 1" + }, + { + "baseId": "18648|18649|18650|18651|18652|18653|18654|18655|18656|18657|18658|18659|18660|18661|18662|18663|36443|36444|36445|36446|36447|36448|36449|36450|36451|36452|36453|36454|36455|36456|36457|36458|36459|36460|36461|36462|36463|36465|36466|36467|36468|36469|36470|36471|36472|36473|36474|36475|36476|36477|36478|36479|36480|36481|36482|36483|36484|36485|36486|36487|36488|36489|36490|36491|36492|36493|36494|36495|36496|36497|36498|36499|36500|36501|36502|36503|36504|36505|36506|36507|36508|36509|36510|36511|36512|36513|36514|36515|36516|36517|36518|36519|36520|36521|36522|36523|36524|36525|36526|36527|36528|36529|36530|36531|36532|36533|36534|36535|36537|36538|36539|36540|36541|36542|36543|36544|36545|36546|36547|36548|36549|36550|36551|36552|36553|36554|36555|36556|36557|36558|36559|36560|36561|36562|36563|36564|36565|36566|36567|36568|36569|36570|36571|36573|36574|36575|36576|36577|36578|36579|36580|36581|36582|36583|36584|36585|36586|36587|36588|36589|36590|36591|36592|36593|36594|36595|36596|36597|36599|36600|36601|36602|36603|36604|36605|36606|36607|36608|36609|36610|36611|36612|36613|36614|36615|36617|36618|36619|36620|36621|36622|36623|36625|36626|36627|36628|36629|36630|36631|36632|36633|36634|36635|36636|36637|36638|36639|36640|36641|36642|36643|36644|36645|36647|36648|36649|36650|36651|36652|36653|36654|36655|36656|36657|36659|36660|36661|36662|36663|36664|36665|36666|36667|36668|36669|36670|36671|44187|44809|44811|44812|44819|44822|44824|45901|45902|45903|45904|45905|45906|45907|45908|45909|45910|45911|45912|46835|46837|46840|46843|46847|47143|47145|47151|47152|47154|47159|98425|98426|98430|98431|98432|106814|131978|186785|190722|195555|195556|200181|200182|200184|265208|265226|265233|265306|265311|312603|312605|312606|318507|318514|318523|319020|357784|357785|357786|357787|357788|357789|357790|370377|407690|421753|433070|459173|459536|487374|487387|489984|524448|524536|524545|544707|544708|544719|544726|544730|544736|544750|545014|545021|545148|545149|545151|545152|545155|545157|545164|545246|545254|545265|545266|545293|545295|545296|545304|545307|549463|563218|565885|621302|621306|621787|638216|651855|652017|730636|737114|737115|737116|737117|751683|767385|767386|767387|775380|783398|787632|790904|790905|790906|790907|799592|799593|801674|801675|801676|801677|801678|820135|820136|836076|836077|836078|836079|836080|836081|836082|901953|901954|901955|901956|901957|901958|901959|901960|901961|901962|901963|903393|903394|934746|940146|946599|955809|955810|959918|960684|972028|972029|972030|972031|972032|972033|972034", + "text": "Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase" + }, + { + "baseId": "18651", + "text": "GALT POLYMORPHISM" + }, + { + "baseId": "18652", + "text": "GALT POLYMORPHISM (DUARTE, D2)" + }, + { + "baseId": "18652|18653|18661|36470|36498|36500|36526|36529|36537|36549|36559|36560|36586|36599|36643|44812|98432|200182|200184|265311|312603|318523|433070|487372|487373|487374|487385|487441|563218|621301|621306|737114|737116|767387|836079|978578", + "text": "Galactosemia" + }, + { + "baseId": "18665|18666|18667|18668|18669|18670|18671|18673|18674|983660", + "text": "Myeloperoxidase deficiency" + }, + { + "baseId": "18672", + "text": "Lung cancer, protection against, in smokers" + }, + { + "baseId": "18675|18676|18677|18678|18679|18680|18681|18682|18683|18684|18685|133722|133723|133724|139997|139998|140000|140001|140002|140005|140006|140008|181400|206765|206766|210625|210626|210633|210638|210644|210646|214530|226874|227211|279404|279405|279408|279409|279410|279414|279416|279417|279418|279654|279657|279673|279677|279683|279702|279707|279714|279715|280918|280919|280920|280926|280930|280931|280932|280935|280949|280950|280952|281064|281067|281074|281075|281076|281087|281088|281089|281092|281095|281096|359234|362095|362096|362097|362098|362099|364687|364832|364922|427718|427719|427720|439688|508767|513505|538331|583079|653846|653847|653848|718704|718705|732199|758880|761672|789937|792878|798462|798463|798464|818154|863814|863815|863816|863817|863818|863819|863820|863821|863822|863823|863824|863825|863826|863827|863828|865134|904202|964149|974930|974931", + "text": "Coenzyme Q10 deficiency, primary, 4" + }, + { + "baseId": 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+ "text": "See cases" + }, + { + "baseId": "18684|34005|40176|40177|40177|40178|40179|40180|40180|40181|167374|167374|167376|167873|167873|167874|167874|167875|167875|167876|167877|167877|167878|167879|167880|167880|167882|167882|167883|167883|167884|167884|167885|167885|167886|167886|167887|167888|167888|167889|167889|167892|167892|167893|167894|167894|167895|167896|167897|167898|167898|167899|167899|167900|167901|167902|167902|167903|167903|167904|167905|167905|167906|167906|167907|167907|167908|167909|181421|191091|191092|191724|192147|192857|192857|193065|193347|193872|193872|194083|194083|194498|194653|194692|194712|196329|207263|207263|207264|214197|214197|214198|214199|214200|214201|214202|214203|214204|214204|214205|214206|214207|214208|214208|214209|214210|214211|214212|214213|214214|214215|214216|214217|214218|214219|214220|214221|214222|214223|214224|214224|214225|214226|214227|214228|214229|251950|251953|251954|251954|251957|251957|251958|251958|251959|251959|251960|251962|251962|251963|251963|259826|259826|264270|264270|272778|287347|297460|297465|297467|297468|297471|297473|297473|297474|297478|297479|297483|297485|299540|299542|299543|299544|299544|299546|299556|299564|299565|299570|299571|299577|299578|299580|299581|299585|299603|299605|299615|299618|299627|299627|299629|303712|303714|303717|303718|303719|303719|303723|303726|303729|303730|303744|303744|303745|303745|303747|303747|303749|303753|304022|304023|304024|304060|304062|304066|304067|304067|304089|304091|304094|304095|304098|304109|304125|304126|304127|304127|304128|304129|304136|304137|304138|304138|363746|368168|368170|368486|368487|368653|369882|369882|369909|418964|418965|418966|418967|455192|455193|455194|455631|455638|455640|455643|455647|455653|455878|455885|455896|501209|501350|501355|521204|521461|521469|521796|521797|560329|560331|560333|560333|560335|560337|560339|560341|560343|560345|560458|560460|560462|560464|563172|563173|565134|565136|565141|565142|565154|565158|620196|620197|622879|622880|622881|633955|633957|655663|655663|677420|677420|677421|691858|691859|699082|699082|699084|699084|709906|709906|721448|721448|730360|735090|777461|777461|802155|802156|802157|894219|894220|894221|894222|894223|894224|894225|894226|894227|894228|894229|894230|894231|894232|894233|894234|894235|894236|894237|894238|894239|894240|894241|894242|894243|894244|894245|894246|894247|894248|894249|894250|894251|894252|894253|894254|894255|894256|894257|894258|894259|894260|894261|894262|894263|894264|896100|896101|896102|896103|896104|896105|896106|906243|906244|932913|964822|970418|970483|973007|974485", + "text": "Joubert syndrome 17" + }, + { + "baseId": "18686|18687|18688|102114|193728|193729|236920|236953|270109|270767|326179|335856|335857|342228|342231|342237|342245|343772|343778|343779|343781|343792|343793|343795|364111|377727|377728|465923|465926|505708|588555|644890|644891|644892|653055|688630|693912|693913|740319|875871|875872|875873|875874|875875|875876|875877|875878|875879|875880|875881|875882|875883|876717|921236|957850|957851", + "text": "Congenital disorder of glycosylation type 2H" + }, + { + "baseId": "18689|18690|102416|102417|191963|324738|324741|324743|324749|324755|324758|324761|324762|334329|334332|334338|334351|334353|334354|334362|334363|334369|340973|340976|340982|340983|342439|342441|342447|342448|342452|342470|342471|342472|342475|342478|342479|342488|374208|374222|375222|375233|377345|466338|491141|505254|506200|530104|539192|539193|569919|644374|644375|644376|644377|652552|656356|668432|688554|690136|693828|703566|726507|740034|874956|874957|874958|874959|874960|874961|874962|874963|874964|874965|874966|874967|876645|876646|920358|937353", + "text": "COG7 congenital disorder of glycosylation" + }, + { + "baseId": "18691|18692|40584|40585|101593|101594|101595|192136|205182|335913|335934|335936|342273|342275|343855|374551|375381|375618|445607|466655|505908|568293|570426|570512|570516|644946|644947|644948|644949|688643|726767|755360|771046|785367|791639|844239|844240|844241|903614|919675|949533|949534|960852", + "text": "Congenital disorder of glycosylation type 2J" + }, + { + "baseId": "18691|136760|153138|165849|188286|263276|360903|360957|361048|361051|514173|590984", + "text": "Delayed gross motor development" + }, + { + "baseId": "18693|18694|101806|101807|101808|101809|101810|101813|101814|101815|101816|177623|190561|215543|237184|247139|329735|329736|329737|329741|329745|329752|340023|340035|340043|345725|345726|345729|345733|345736|345737|345741|347121|347131|347132|347134|347138|347143|347146|363851|439037|469054|490998|531758|585912|620603|620604|646662|646663|646664|688827|694183|694184|715669|715670|715671|727399|779830|785730|791825|846165|846166|846167|878337|878338|878339|878340|878341|878342|878343|878344|878345|878346|878347|878348|878349|878350|878351|878352|878353|878354|878355|878356|878357|880572|938212|958293|958294", + "text": "COG1 congenital disorder of glycosylation" + }, + { + "baseId": "18695|18696|18697|18698|18700|18704|18705|18707|18708|18709|18710|326105|326110|335786|342147|342148|343667|343668|614689|614690|620559|875790|875791|875792|875793|875794|875795|875796|875797|875798|875799|875800|875801|875802|875803|875804|876705", + "text": "Norum disease" + }, + { + "baseId": "18699|18701|18703|18711|18712|18713", + "text": "Fish-eye disease" + }, + { + "baseId": "18714|18715|18716|18717|18718|18719|18720|18721|34023|34024|34025|98795|98796|98798|177324|196175|196176|271860|280056|280063|280067|280072|280077|280078|280403|280407|280409|280410|281724|281726|281735|281737|281738|281885|281886|281890|281891|389429|515730|515791|557251|587748|587749|627616|627617|627618|627619|627620|627621|695039|729986|729987|746338|789952|823748|823749|823750|823751|823752|864128|864129|864130|864131|864132|864133|864134|864135|864136|864137|865159|865160|865161|865162|921937|941859|973015", + "text": "UDPglucose-4-epimerase deficiency" + }, + { + "baseId": "18721", + "text": "Galactose epimerase deficiency, severe" + }, + { + "baseId": "18724|18725|18727|18729|18730|18731|18735|18738|18741|18770|18775|18778|18779|18780|32929|45116|45118|48709|78994|80399|171199|171201|171204|171213|171217|172183|181222|181228|181233|181246|181247|181252|181258|187193|198011|198012|198013|198015|228126|228135|228146|228149|228151|228160|228179|228192|228206|230978|230982|243268|245525|245645|245773|245832|245946|246106|246122|246306|246513|281418|354088|354099|402821|434337", + "text": "Homozygous familial hypercholesterolemia" + }, + { + "baseId": "18730|509534", + "text": "Internal carotid artery dissection" + }, + { + "baseId": "18730|31479|360973|360979|485694|509534|677254", + "text": "Aortic dissection" + }, + { + "baseId": "18730|509534", + "text": "Carotid artery dissection" + }, + { + "baseId": "18730|509534", + "text": "Carotid artery occlusion" + }, + { + "baseId": "18730|24258|24628|28692|509534|577760|794275|801188", + "text": "Stroke" + }, + { + "baseId": "18731|18779|45115|45116|45125|78990|171195|171196|171197|171198|171199|171200|171201|171202|171203|171204|171205|171206|171207|171208|171209|171210|171211|171212|171213|171214|171215|171216|171217|171218|171219|171220|171221|171222|171223|171224|172183", + "text": "Hypercholesterolaemia" + }, + { + "baseId": "18740", + "text": "FH LEIDEN 1" + }, + { + "baseId": "18787|18788|101415|101416|101417|101420|102028|102029|102030|177264|177270|192025|207942|236963|237091|268988|270351|270637|312324|312325|312330|312332|312333|312334|312338|312344|312345|318190|318194|318197|318211|318230|318232|318233|323637|323662|323664|324294|324295|324302|324303|324304|324312|324313|324348|324349|324351|324354|324355|324356|324363|325008|325019|325026|325052|325054|325058|325060|325061|325062|325065|329780|329783|331071|331073|361619|371237|371961|371963|372150|372151|372878|373874|441534|481251|489736|503438|514617|525871|526711|526714|577255|584329|589444|639686|640670|656110|687706|692928|692929|702192|768195|784295|787746|837938|839379|839380|839381|867019|867020|867021|867022|867023|867024|867025|867026|867027|867028|867029|867030|867031|867032|867033|867034|867035|867036|867037|867038|867039|867040|867041|926483|940202|956765|960776", + "text": "ALG9 congenital disorder of glycosylation" + }, + { + "baseId": "18789|18790|18791|18792|18793|18794|18795|18796|18797|18798|18799|18800|18801|18802|18803|18804|18805|18806|18807|18808|39583|76508|76509|227033|309712|309715|309716|309717|314566|314567|314569|314571|314572|314573|320639|320640|321156|321157|321166|321169|321178|682859|730676|865585|865586|865587|865588|865589|865590|865591|865592|865593|865594", + "text": "Congenital erythropoietic porphyria" + }, + { + "baseId": "18809|44159|44160|44161|44162|44163|178747|178748|222810|222811|222812|222813|222814|224554|224555|227408|243372|243373|243374|243375|243376|243377|243378|243379|243380|243381|243382|257190|259034|259037|259041|334051|334052|334054|334064|334067|334068|334074|343979|343983|343989|343991|343992|343993|344000|344001|344007|349247|349248|349251|349253|349255|349256|349259|349260|350202|350205|350206|350209|350213|350216|350217|350218|350219|350222|350225|350226|360403|376641|376642|377589|377817|377819|377844|403298|403304|403317|403360|403362|403368|403370|403771|403776|403777|403817|403826|403833|403837|403838|404840|410647|410648|424964|446168|446169|468160|468947|468951|468952|469458|469925|469930|470372|470375|470377|470378|470379|470390|470392|470395|471071|471075|471078|471081|471084|482196|506927|507098|507485|507503|507915|510805|512429|513378|514766|533114|533116|533120|533201|533221|533223|533637|533642|533644|570904|570908|570919|570920|572604|572606|573223|573227|573229|575004|575005|610143|620645|620908|620909|620910|648233|648234|648235|648236|648237|648238|648239|648240|648241|648242|648243|648244|648245|648246|648247|648248|648249|648250|653509|653622|656585|679475|689118|689123|689125|690222|742049|772801|800140|800141|800142|800143|800144|800145|821278|821279|821280|847829|847830|847831|847832|847833|847834|847835|847836|847837|847838|847839|847840|847841|847842|847843|847844|847845|847846|847847|847848|847849|847850|847851|847852|852983|882298|882299|882300|882301|882302|882303|882304|882305|882306|882307|882308|882309|882310|882311|882312|882313|882314|882315|882316|882317|882318|882319|882320|882321|882322|882323|882324|882325|882326|882327|882916|919882|919883|919884|929024|929025|929026|929027|929028|929029|938770|938771|938772|938773|938774|938775|938776|940488|941237|950847|950848|950849|950850|950851|950852|950853|950854|950855|950856|950857|950858|958686|958687|958688|958689|960296|960297|964524|964694", + "text": "Progressive familial heart block type IB" + }, + { + "baseId": "18810|18811|18812|18812|18813|18813|18814|18814|18814|18815|18816|18816|18817|18818|18820|18822|18823|18825|18826|18827|18828|18829|18829|18830|18831|18832|18833|18833|18834|18834|18835|18837|18838|18839|18840|18841|18842|18843|18844|18845|18846|18846|48497|105415|105416|105416|105421|105430|105430|105431|105437|105442|105454|105454|105459|105461|105464|105471|105472|105472|105476|153856|153857|153858|153858|207917|207918|207919|207920|207921|207922|209323|360937|408495|408495|429322|429323|429324|429325|429328|429330|514014|576335|576336|576337|609215|609265|611978|614155|615954|615955|615956|615957|615966|624840|677125|983703", + "text": "Tyrosinase-negative oculocutaneous albinism" + }, + { + "baseId": "18811|18846|18846|32632|104537|105416|360967|428912|429631|431770|431778|431850|431868|918182|918183|918502", + "text": "Albinism" + }, + { + "baseId": "18811|18812|18813|18816|18817|18818|18829|18840|105416|105437|105464|105472|133809|207921|254366|254367|272488|297312|299316|299318|303721|303762|303767|303809|303815|303828|303850|310952|310965|310975|315471|315472|316559|322332|328465|329772|329774|331409|337677|408495|429326|490993|491129|576336|587519|620424|654776|713243|868937|868938|868939|868940|868941|868942|868943|868944|868945|868946|868947", + "text": "Oculocutaneous albinism" + }, + { + "baseId": "18811|18812|18812|18813|18814|18814|18815|18816|18816|18818|18829|18833|18833|18834|18846|18846|105416|105416|105430|105437|105454|105472|153856|153857|153858|408495|609265|677125|789139|789144", + "text": "Oculocutaneous albinism type 1B" + }, + { + "baseId": "18812|18813|18814|18816|18829|18833|18834|18846|105416|105430|105437|105454|105472|408495|682800", + "text": "Albinism, ocular, with sensorineural deafness" + }, + { + "baseId": "18812|18813|18814|18816|18817|18818|18829|18833|18834|18846|105416|105430|105437|105454|105472|408495", + "text": "Skin/hair/eye pigmentation, variation in, 3" + }, + { + "baseId": "18818|18821", + "text": "Oculocutaneous albinism type 1, temperature sensitive" + }, + { + "baseId": "18818|38747|38747|229145|229146|229149|631792|828567|851093", + "text": "Cutaneous malignant melanoma 8" + }, + { + "baseId": "18818", + "text": "Skin/hair/eye pigmentation 3, blue/green eyes" + }, + { + "baseId": "18818", + "text": "Autosomal recessive ocular albinism" + }, + { + "baseId": "18818|19699|19775|23388|23970|27831|28977|29349|29350|32712|39492|45219|46807|46822|47519|47731|50009|50078|50139|50242|50254|50266|50269|50284|66867|67139|67230|69099|69417|70148|97210|132096|132140|132179|132799|133157|133194|133401|133513|133528|133578|133652|133668|138033|138052|138088|138731|139188|139490|150524|151816|151840|152117|152722|180449|180494|180571|180715|181603|222845|241992|242393|242417|242432|245218|252373|267391|273927|299920|332443|338575|364161|398967|400520|402859|404368|408130|429594|457512|457879|460575|475258|488134|614353|623687|639417|645920|672038|677966|677967|677969|677980|781576|791049|921485|963277|963279|965841|969188|974882|975913|975914|976514", + "text": "Malignant tumor of breast" + }, + { + "baseId": "18846", + "text": "Hypopigmentation of hair" + }, + { + "baseId": "18846|188865|513965|514039", + "text": "Horizontal nystagmus" + }, + { + "baseId": "18846", + "text": "Hypopigmentation of the skin" + }, + { + "baseId": "18846", + "text": "Iris transillumination defect" + }, + { + "baseId": "18846|32418|33288|105416|223747|354298|360977|360978|360984|361099|513923|513982", + "text": "Myopia (disease)" + }, + { + "baseId": "18847|18849|18850|18851|18852|18853|18854", + "text": "Chediak-Higashi syndrome, childhood type" + }, + { + "baseId": "18847|18848|18849|18850|18851|18852|18853|18854|18855|18856|49401|76437|76438|76441|76443|76444|76446|76447|76448|76449|76450|76451|76452|76453|76454|76455|76456|76457|76458|76460|178787|178788|178789|178790|178791|178792|178793|178794|178795|178796|178797|206772|206773|206775|206776|206778|206780|236927|237053|237263|237316|249778|249779|249780|249781|249782|249783|249785|249786|249787|249788|249790|249791|249795|249797|249798|249800|249801|249802|249803|249804|249805|249806|249807|249808|249809|249810|249811|279647|279648|279650|279651|279652|279655|279656|279660|279662|279666|279668|279669|279670|279674|279678|279680|279684|279686|279690|279692|279693|279695|279696|279698|279703|279704|279708|279710|279879|279880|279882|279884|279885|279886|279888|279890|279891|279892|279896|279898|279900|279906|279908|279909|279910|279911|279912|279916|279918|279925|279926|279929|279939|279951|279954|279957|279958|279959|279969|279971|279972|279980|279981|279983|279993|279996|279997|279998|279999|281246|281247|281248|281252|281254|281265|281270|281272|281273|281276|281281|281282|281283|281290|281291|281293|281301|281303|281304|281308|281309|281310|281313|281314|281315|281316|281318|281343|281344|281357|281363|281369|281374|281376|281392|281394|281395|281408|281409|281417|281425|281426|281429|281430|281434|281442|281444|281449|281451|281452|281455|281471|281476|281486|281493|281498|281499|281503|281514|281515|281516|389398|405089|414777|414778|427726|427727|427728|427729|442745|442748|447572|447578|447582|447742|447745|447751|447755|447860|447864|493091|512802|512803|512888|512889|515515|515516|515522|515524|515525|515529|515535|515536|515539|515543|515545|515546|515574|515575|515579|515580|515582|515584|515592|515593|515597|515599|515600|515601|515602|515603|515605|515607|515608|515610|515616|515618|515620|515622|515628|515630|515632|515635|515636|515640|515646|515648|515650|515655|515660|515665|515666|515675|515680|515681|515683|515685|515686|553133|553134|556804|556806|556807|556809|556811|556813|556815|556817|556819|557132|557134|557136|557138|557140|557142|557144|557146|557148|557150|557152|557183|557185|557187|557189|557191|557193|557195|557197|557199|558365|558367|558369|558371|558373|614210|614211|614212|614213|619992|624181|627447|627448|627449|627450|627451|627452|627453|627454|627455|627456|627457|627458|627459|627460|627461|627462|627463|627464|627465|627466|627467|627468|627469|627470|627471|627472|627473|627474|627475|627476|627477|627478|627479|627480|627481|627482|627483|627484|627485|627486|627487|627488|627489|627490|627491|627492|627493|627494|627495|627496|627497|627498|627499|627500|627501|627502|627503|627504|627505|627506|627507|627508|650688|690517|690519|690520|690523|690524|690525|690526|690527|690528|690531|690532|690534|695034|695035|696583|696584|696586|707223|707224|707226|707227|707231|718807|718810|718811|729983|732277|732280|732281|732282|746297|746299|758891|761722|761724|761730|780604|780609|780610|789945|789946|789947|792715|794611|794612|802119|816438|818935|823548|823549|823550|823551|823552|823553|823554|823555|823556|823557|823558|823559|823560|823561|823562|823563|823564|823565|823566|823567|823568|823569|823570|823571|823572|823573|823574|823575|823576|823577|823578|823579|823580|823581|823582|823583|823584|823585|823586|823587|823588|823589|823590|823591|823592|823593|823594|823595|823596|823597|823598|823599|823600|823601|823602|823603|823604|823605|823606|823607|823608|823609|823610|850755|850757|851289|863920|863921|863922|863923|863924|863925|863927|863928|863929|863930|863931|863932|863933|863934|863935|863936|863937|863938|863939|863940|863941|863942|863943|863944|863945|863946|863947|863948|863949|863950|863951|863952|863953|863954|863955|863956|863957|863958|863959|863960|863961|863962|863963|863964|863965|863966|863967|863968|865140|865141|865142|865143|865144|865145|865146|920141|921870|921871|921872|921873|921874|921875|921876|921877|921878|921879|921880|921881|921882|921883|921884|921885|921886|921887|921888|930356|930357|930358|930359|930360|930361|930362|930363|930364|930365|930366|930367|930368|930369|930370|930371|930372|930373|930374|930375|930376|930377|930378|940622|940623|941783|941784|941785|941786|941787|941788|941789|941790|941791|941792|941793|941794|941795|941796|941797|941798|941799|941800|941801|941802|941803|941804|941805|941806|941807|952309|952310|952311|952312|952313|952314|952315|952316|952317|952318|952319|952320|952321|952322|952323|960423|961924", + "text": "Ch\u00e9diak-Higashi syndrome" + }, + { + "baseId": "18848|18855|18856", + "text": "Chediak-Higashi syndrome, adult type" + }, + { + "baseId": "18857|18858|39571|39572|39573|39574|39575|39576|39577|39578|55236|55237|55239|55244|55245|55246|55247|98402|98403|98404|98405|98406|98407|98408|98409|98411|98412|98413|98414|98415|98416|98417|98418|98419|98421|98422|99987|137043|175007|175287|175289|177147|186914|186915|186916|186917|186918|186919|186920|186921|186922|186923|190219|191485|192182|194271|196153|204567|208128|208129|227363|253829|253830|255097|255100|255102|255106|260059|260060|265194|265196|270775|270902|271824|274192|310742|310745|310771|310806|310808|310811|316006|316010|316044|316047|316063|321644|321645|321646|321654|321666|321668|321669|321670|321675|321677|322088|322102|322108|322109|322147|322165|322166|322713|322714|322725|322726|322729|322738|322776|330918|330920|330922|330924|330925|330929|330932|330933|330942|337614|337616|337617|337621|337625|337628|337629|337634|337636|337638|337640|339667|339668|339676|339677|339682|339688|339691|339693|339694|339704|339705|339708|339713|339714|353137|353139|353147|353148|353153|353950|358250|358251|358252|358253|358254|358255|358256|358257|358258|358259|358260|358261|358262|358263|358264|358265|358266|358267|358268|358269|358270|360963|360964|361555|373233|376263|389160|409161|421997|426078|426079|426080|427116|437975|445261|462970|463553|463573|463579|464160|464162|464165|487742|488223|513346|527841|536217|540599|547295|547298|547300|547308|547309|547311|547313|547315|547320|547321|547335|547352|547353|547355|547358|547363|547366|547367|547370|547372|547373|547374|547378|547384|547392|547400|547401|547402|547403|547416|547433|547435|547437|547440|547447|547448|547587|547597|547600|547602|547604|547608|547612|547621|547625|547629|547634|547636|547644|547651|547653|547868|547875|547884|547885|547890|547891|547895|547900|547910|547913|547914|547919|547920|547923|547929|547935|549457|549458|549460|549464|549718|549723|569058|569063|583123|612306|612999|620863|621479|621480|621481|622906|642770|642771|642772|642773|642774|642775|642776|652326|652480|652895|693615|693616|693617|693618|703005|714257|725845|730959|739362|754187|754188|754191|769936|769937|769938|769939|769940|769941|769942|769944|769945|775958|775960|776030|776032|784800|784801|784802|784804|784805|784806|787978|788146|791426|791427|791428|792674|818398|818399|818711|820653|820654|820655|820656|820657|820658|841872|841873|841874|841875|841876|841877|841878|851591|852570|858696|861138|872826|872827|872828|872829|872830|872831|872832|872833|872834|872835|872836|872837|872838|872839|872840|872841|872842|872843|872844|872845|872846|872847|872848|872849|872850|872851|876460|876461|904182|904217|919548|920337|927190|927191|936756|936757|936758|948711|948712|957326|957327|957328|957329|964417|969127|979532|979533|979534|979535|979536|979537|979538|979539|979540|979541|979542|979543|979544|979545|979546|979547|979548|979549|979550|979551|979552|984266", + "text": "Galactosylceramide beta-galactosidase deficiency" + }, + { + "baseId": "18859|18860|18861|18862|18863|135830|198633|207983|318038|318043|318045|318046|318048|318049|318051|318052|318054|325941|325951|325952|325954|325955|325956|325958|332173|332177|332183|332193|332202|332205|332207|332209|332216|333664|333668|333678|333682|333689|364038|527277|527816|565627|571934|587801|609848|610989|610990|610991|612297|626219|641279|641280|641281|713637|738748|753503|753504|791260|791261|791262|840109|840110|840111|852693|870179|870180|870181|870182|870183|870184|870185|870186|870187|870188|870189|872269|872270|919457|936193|948108|948109|966600|976593|977258|980126", + "text": "Isolated sulfite oxidase deficiency" + }, + { + "baseId": "18864|18865|18866|18867|18868|18869|18870|18871|18872|18873|18874|18875|18876|39568|39569|39570|139962|139963|187076|187077|190704|193358|194253|200232|200233|200235|200238|200239|200240|200242|200243|200244|200245|200246|200249|254431|254432|264511|316178|316179|316182|316183|316184|323453|323454|323457|323467|329678|329680|329681|329685|330864|330879|330885|330887|330889|330893|330895|330899|358092|358093|358094|358095|358096|358097|358098|358099|358100|358101|358102|358103|358104|358105|358106|371838|372575|372579|372583|374627|408539|415324|425953|425954|425955|444933|461861|462210|462446|462448|462457|526689|526696|526703|526705|526938|526939|527265|527266|546657|546660|546661|546663|546670|546675|546681|546684|546689|546851|546853|546960|546964|546971|546973|546975|546986|546995|546998|547004|547005|547009|547011|547191|547193|547195|547197|547199|547201|547203|566280|571301|612095|640654|640655|640656|640657|652211|702167|738495|753156|839352|839353|839354|839355|839356|839357|851929|852438|869378|869379|869380|869381|869382|869383|869384|869385|869386|869387|869388|869389|869390|869391|869392|869393|869394|872193|872194|926477|926478|935930|940245|947797|947798|947799|956758|956759|956760|956761|961803", + "text": "Deficiency of butyryl-CoA dehydrogenase" + }, + { + "baseId": "18877|18878|18879|18881|39566|39567|317122|317130|317132|317133|317142|317144|317145|317147|317148|317155|317165|324863|324864|324865|324868|324869|324882|324888|324889|324890|324892|324898|330964|330968|330973|330974|330979|330980|330993|330997|330998|331003|331004|331015|331026|332474|332478|332483|332492|332502|332509|332517|332519|332521|332522|332535|332544|332554|332556|332559|332560|462136|462177|462461|462467|462973|527166|527171|527705|527710|527713|527720|527727|565482|566839|571864|571871|641133|641134|641135|641136|641137|641138|641139|652490|652491|725089|725090|753364|769120|839927|839928|839929|839930|839931|839932|839933|858638|869817|869818|869819|869820|869821|869822|869823|869824|869825|869826|869827|869828|869829|869830|869831|869832|869833|869834|869835|869836|869837|869838|869839|869840|869841|872240|872241|918164|918165|926631|926632|936123|948020|948021|948022|948023|948024|956872", + "text": "Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency" + }, + { + "baseId": "18880", + "text": "Invasive pneumococcal disease, recurrent isolated" + }, + { + "baseId": "18881", + "text": "Invasive pneumococcal disease, recurrent isolated, 1" + }, + { + "baseId": "18882|18885|18886|18887|18888|18889|18890|18891|18892|18893|18894|18895|18896|18897|18898|18899|18900|18901|18902|18903|18904|18905|44363|44364|44365|44366|44367|44368|44369|44370|44371|44372|44373|44374|44375|44376|44377|44378|44379|44380|44381|44382|44383|44384|44385|44386|44387|44388|44389|44391|44392|44393|44394|44395|44396|44397|44398|44399|44400|94514|94515|98297|98298|98299|98300|98301|98302|166061|166063|166064|166065|167775|167777|167779|167780|167781|167783|167784|167785|167786|167789|167790|167792|167794|167798|167799|167801|167802|167803|167804|171156|186873|186874|186875|186876|186877|186878|186879|186880|186881|186882|186883|186884|186885|186886|186887|186888|186889|186890|186891|186892|186893|186894|186895|186896|186897|186898|186899|186900|186901|186902|186903|186904|186905|186906|186907|186908|186909|186910|186911|186912|191132|194784|205174|208046|208047|208048|208049|227353|247315|254862|254863|254864|254865|254866|254870|254871|267145|267152|268909|270118|270120|272479|273702|319950|319951|319959|319960|319971|319973|319974|319978|319981|319985|328486|328488|328496|328499|328503|328505|328507|328509|328511|328530|328532|328533|328541|328542|328544|328545|328546|328547|328550|334987|334989|334993|334994|335004|335006|335007|335009|335010|335011|335019|335026|335032|335033|335037|335040|335041|335046|336837|336841|336847|336848|336857|336858|336859|336871|336872|336878|336880|336885|336886|336892|336898|336899|336904|336912|336914|336917|336934|358211|358212|358213|358214|358215|358216|358217|358218|358219|358220|358221|358222|358223|358224|358225|358226|358227|358228|358229|358230|358231|358232|358233|358234|358235|358236|358237|358238|358239|358240|358241|358242|358243|360952|372860|372863|373572|373583|373861|373869|375694|375695|375697|404813|409035|409037|409038|411516|415377|421962|421963|424263|426047|433130|433132|433133|437956|437957|462961|462964|463322|463368|463372|463374|463931|463937|463941|487515|487522|487523|487525|487532|487600|487603|487606|487611|487612|487706|487715|487729|487755|487764|487771|492114|504277|504294|504566|505197|512064|514657|527794|527795|527801|527802|527820|527823|527824|527826|527827|528156|528160|528164|540598|546955|546961|546963|546965|546966|546968|546978|546980|546985|546994|546999|547000|547002|547007|547008|547010|547019|547022|547024|547026|547030|547032|547043|547047|547049|547051|547053|547056|547057|547061|547062|547066|547068|547071|547073|547075|547093|547095|547148|547157|547163|547167|547171|547174|547176|547179|547181|547182|547184|547190|547194|547196|547198|547200|547204|547214|547216|547218|547220|547225|547228|547230|547232|547243|547249|547250|547275|547277|547279|547283|547285|547286|547288|547297|547299|547305|547312|547318|547322|547325|547326|547332|547334|547336|547340|547341|547344|547347|547349|547360|547362|547364|547368|547369|547371|547375|547377|547379|547381|547394|547396|547398|547406|547407|547408|547409|547558|547560|547565|547574|547584|547590|547591|547596|547605|547610|547613|547614|547618|547620|547622|547632|547638|547641|547646|547650|547656|547681|547684|547693|547695|547697|547699|547701|547703|547706|547709|547711|547725|547738|547740|547741|547743|547748|547763|566175|566177|567723|567742|568626|568632|568633|581768|581769|609310|609311|609312|609313|609314|609872|609873|609876|609877|612098|612356|620474|620859|621454|621456|621457|621458|621460|621462|621463|621464|621467|621470|621471|621472|621473|621474|626222|626223|642029|642030|642031|642032|642033|642034|642035|642036|642037|642038|642039|642040|642041|642042|642043|642044|642045|642046|642047|642048|642049|642050|642051|642052|642053|652517|652542|652545|652799|652845|656207|688177|688178|688179|693395|702722|725509|725510|725511|753864|753866|753868|753869|753870|753871|753872|760083|760277|769588|769589|769593|769597|769598|769599|769601|769602|769603|769605|769606|769608|769609|769610|769611|769613|769614|775950|776227|776233|784616|784617|784619|784622|784623|784624|784625|784626|784627|784628|787961|788128|788877|791375|791376|791377|796948|796949|796954|796960|799741|799742|799743|799744|799745|799746|799747|799748|799749|799750|800960|801721|820584|820585|820586|820587|820588|840980|840981|840982|840983|840984|840985|840986|840987|840988|840989|840990|840991|840992|840993|840994|840995|840996|840997|840998|840999|841000|841001|841002|841003|841004|851539|851541|851979|871411|871412|871413|871414|871415|871416|871417|871418|871419|871420|871421|871422|871423|871424|871425|871426|871427|871428|871429|871430|871431|871432|871433|871434|871435|871436|871437|871438|871439|871440|871441|871442|871443|871444|871445|871446|871447|871448|871449|871450|871451|871452|871453|871454|871455|871456|872346|905946|905947|906027|906029|906031|915047|917172|917175|917177|917515|919500|920326|926943|926944|926945|926946|926947|936479|936480|936481|936482|936483|936484|936485|936486|940293|948408|948409|948410|948411|948412|948413|948414|948415|948416|957120|957121|957122|957123|957124|957125|957126|957127|957128|957129|957130|957131|957132|961872|963291|965207|969177|972185|972186|972187|972188|972189|972190|972191|972192|972193|972194|972195|972196|972197|974454|979384|979385|979386|979387|979388|979389|979390|979391|979392|979393|979394|979395|979396|979397|979398|979399|979400|979401|979402|979403|979404|979405|979406|979407|979408|979409|979410|979411|979412|979413|979414|979415|979416|979417|980186|980187|981838|981839|981840|981841|981842|981843|981844|983700|983764|983985", + "text": "Wilson disease" + }, + { + "baseId": "18906|18907|18908|18909|18909|18910|18910|18911|143179|263935|276165|276166|276179|276180|276181|276183|276185|276193|276439|276441|276442|276451|276452|276822|276826|276827|276828|276839|276840|276862|276867|276871|276873|276874|276875|276900|353052|360801|440346|442598|442600|486843|513230|513231|515070|515071|515107|556570|558007|578359|621055|622857|626716|626718|626719|626720|626721|626722|706625|706626|718140|718141|718144|731632|731633|731634|743686|745613|745614|745615|745616|761125|761128|761129|761130|761131|761132|761134|761135|774384|778728|778765|780292|780293|780298|780299|786991|818843|822614|822615|822616|850730|862101|862102|862103|862104|862105|862106|862107|862108|862109|862110|864966|864967|904757|904758|930002|952036|952037|960402|977426|977427|977428|977429", + "text": "Phosphoglycerate dehydrogenase deficiency" + }, + { + "baseId": "18907|18909|18910|18911|143178|143179|143179|166140|166141|513231|558007|578359", + "text": "Neu-Laxova syndrome 1" + }, + { + "baseId": "18912|18913|18916|18917|18918|18920|18921|18923|18926|99101|99102|99104|99106|99109|99110|134669|134670|177100|177767|191343|192243|207281|237264|243984|252009|252014|259827|264274|265212|265239|273442|298037|298039|298041|298042|298045|300238|300239|300240|300243|304435|304439|304473|304767|304772|353735|353736|359710|361184|369935|384482|428465|428466|487070|488409|508808|520537|521242|521532|540588|543451|543460|543463|543468|543470|543474|543476|543478|543712|543714|543715|543716|543719|543723|543724|543726|543728|543730|543733|543735|543746|543804|543805|543807|543813|543817|543819|543821|543825|543829|543885|543886|543892|543894|543899|543907|543909|543911|543913|543923|543930|560486|562300|563219|565192|612273|612441|621203|621746|623141|634008|634009|634010|634011|634012|651266|691878|691879|695302|709996|749582|749583|765197|765199|775031|775043|782332|782333|788784|789251|795722|830942|830943|830944|830945|830946|830947|851036|851290|857404|858719|894657|894658|894659|894660|896129|896130|896131|906363|916959|916960|916961|924100|924101|932947|944650|954190|954191|954192|954193|954194|954195|954196|959771|971877|971878|971879|971880|971881|971882|971883|971884|971885|971886|972774|975786|978203|978204|978205|983740", + "text": "Sandhoff disease" + }, + { + "baseId": "18913|99109", + "text": "HEXB POLYMORPHISM" + }, + { + "baseId": "18914|18916|18917", + "text": "Sandhoff disease, juvenile type" + }, + { + "baseId": "18915", + "text": "Hexosaminidase B (paris)" + }, + { + "baseId": "18917|18918", + "text": "Sandhoff disease, adult type" + }, + { + "baseId": "18920", + "text": "HEXOSAMINIDASE B, HEAT-LABILE POLYMORPHISM" + }, + { + "baseId": "18921|18922|18924|18925|18926|543813", + "text": "Sandhoff disease, infantile type" + }, + { + "baseId": "18923", + "text": "Sandhoff disease, chronic" + }, + { + "baseId": "18928|18928|18929|18930|18931|18932|18933|18934|18935|18936|18937|18938|18939|18940|18943|18944|18945|18946|18947|18948|18949|18950|18951|18952|18953|18954|18956|18957|18958|18959|18961|18963|18964|18965|18966|18967|18968|18969|18970|18971|18972|18972|18973|18974|18975|18976|18977|18980|18981|38431|39563|99095|99096|99097|99098|99099|99100|106593|106594|106595|132034|186933|186934|186935|186936|186937|186938|186939|186940|191502|205779|214781|215043|215045|222992|222993|255344|255345|271317|272306|323287|323296|323309|332971|332973|332975|332980|339827|339828|339830|339842|339844|339848|339849|339851|341250|341255|341256|341257|341260|341265|341266|341267|341270|358302|358303|358304|358305|358306|358307|358308|358309|358310|358311|358312|358313|358314|358315|358316|361391|362115|362116|362117|362118|362119|362120|362121|362122|362123|362124|362125|362126|362127|362128|362129|362130|362131|373669|376623|400224|404823|409341|432438|432439|432440|432441|433602|438669|445415|465273|486124|487657|487757|487870|513352|529097|547520|547522|547525|547527|547529|547534|547537|547538|547540|547542|547545|547547|547549|547552|547553|547554|547559|547561|547562|547563|547564|547566|547567|547568|547570|547572|547579|547583|547585|547588|547594|547758|547760|547761|547766|547767|547769|547770|547773|547775|547778|547781|547783|547785|547787|547789|547794|547804|547805|547807|547815|547815|547817|547824|547825|547827|548183|548186|548188|548190|548193|548199|548202|548209|548211|548212|548214|548220|548222|548223|548225|548230|548237|548239|548251|548252|548254|548256|553391|569113|569591|610619|610620|650338|650344|650348|650349|650350|650351|650354|650355|650356|652704|685064|685068|685071|685072|689609|689610|689612|690127|690128|787911|791483|799818|818710|820732|820734|820735|850395|850397|850399|850404|850405|850406|850408|850409|850410|850418|861131|905953|906394|906395|917386|917538|920351|929858|939716|939717|939720|939721|940337|940338|951927|959397|959398|959399|960129|969129|972213|972214|972215|972216|972217|972218|972219|972220|972221|972222|972599|972776|975828|979657|979658|979659|979660", + "text": "Tay-Sachs disease" + }, + { + "baseId": "18934|18938", + "text": "Gm2-gangliosidosis, juvenile" + }, + { + "baseId": "18935|18936|18960|18963", + "text": "Tay-Sachs disease, B1 variant" + }, + { + "baseId": "18935", + "text": "Hexa, dn allele" + }, + { + "baseId": "18936", + "text": "HEXA, Czechoslovakian allele" + }, + { + "baseId": "18937", + "text": "Gm2-gangliosidosis, adult" + }, + { + "baseId": "18941", + "text": "Tay-sachs disease, juvenile" + }, + { + "baseId": "18945|205779", + "text": "Gm2-gangliosidosis, chronic" + }, + { + "baseId": "18954", + "text": "Gm2-gangliosidosis, adult-onset" + }, + { + "baseId": "18955", + "text": "Gm2-gangliosidosis, variant b1" + }, + { + "baseId": "18961", + "text": "Beta-hexosaminidase a, pseudodeficiency of" + }, + { + "baseId": "18966|18977|18978", + "text": "Gm2-gangliosidosis, late onset" + }, + { + "baseId": "18967", + "text": "Tay-sachs disease, juvenile/adult" + }, + { + "baseId": "18980|18982", + "text": "Gm2-gangliosidosis, subacute" + }, + { + "baseId": "18983|18985|18986|18988|18989|18990|18991|18995|18996|79141|79144|97584|97586|247342|247343|247344|254213|254214|314326|314327|314331|314340|320923|320924|320933|320933|320935|327001|327002|327010|327014|327019|327020|327022|327023|328074|328075|328082|372234|480575|480576|480577|495533|550316|610570|610571|614679|614680|614681|614682|614683|614684|614685|614686|614687|614688|622209|678025|678026|678027|678028|678029|678030|678031|678032|678033|678034|678035|678036|678037|679845|682856|685292|818637|858612|858613|868129|868130|868131|868132|868133|868134|868135|868136|868137|868138|868139|868140|868141|868142|868143|868144|868661|964366|967292|967293|967294|967295|967296|967297|967298|971298|971299|971300|971301|971302|971303|971304|971305|971306|971307|971308|971309|971310|971311|971312|971313|971314|971315|971316|971317|971318|971319|971320|971321|971322|971323|971324|971325|971326|971327|971328|971329", + "text": "Hereditary angioedema type 1" + }, + { + "baseId": "18984|18985|18986|18987|18992|18993", + "text": "Hereditary C1 esterase inhibitor deficiency - dysfunctional factor" + }, + { + "baseId": "18994", + "text": "Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor" + }, + { + "baseId": "18997|919042", + "text": "Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to" + }, + { + "baseId": "18999|19000|19001|19002|19003|19004|19005|19006|19007|132591|132592|136009|136013|136014|136016|136019|136021|205571|205572|205573|205574|205575|205576|205577|205578|205579|205580|205581|205582|205583|205584|205585|205586|205587|205588|205589|205590|205591|205592|205593|205594|205595|205596|207166|207167|227281|251823|251826|264246|296428|296432|296434|296439|296447|296448|298255|298288|298295|298297|302407|302409|302417|302432|302447|302453|302454|302674|302689|368456|406663|425627|427123|428360|443725|443729|453886|454757|454758|454760|455608|455619|491478|492306|493014|495256|501366|513557|520536|520935|521172|521367|521403|521405|521411|560217|560219|560336|560338|562999|563000|564113|589686|633645|633646|633647|633648|633649|633650|633651|633652|633653|633654|651318|682733|691802|691803|691804|691805|691808|698945|698946|698947|698948|698949|698950|709735|782224|782225|782227|790527|790528|790529|790530|804847|821906|830545|830546|851026|906309|918935|918936|923951|923952|923953|923954|923955|932799|932800|932801|932802|932803|944497|954096|964247|965622|969775|971589|980323", + "text": "Treacher Collins syndrome 1" + }, + { + "baseId": 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9|977780|977781|977782|977783|977784|977785|977786|977787|977788|977789|977790|977791|977792", + "text": "Alstrom syndrome" + }, + { + "baseId": "19015|19016|22015|27408|27409|27619|28691|28692|28693|28694|29022", + "text": "Breast adenocarcinoma" + }, + { + "baseId": "19018|19019|19020|19021|19022|19023|19024|552302", + "text": "Friedreich's ataxia" + }, + { + "baseId": "19025|19026|19027|19028|19029|19031|19032|19033|19034|19035|71230", + "text": "Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3" + }, + { + "baseId": "19027|19028|19031|19032|19036|19037|19038|19039|19039|71214|71216|71217|71218|71219|71220|71221|71221|71222|71223|71225|71226|71227|71228|71229|71230|71231|71232|71233|71234|71235|71236|71237|71238|71239|71240|71241|71242|71243|71245|71246|71247|71248|71249|71250|101656|101658|135450|172203|172204|172205|172205|177974|186624|195383|195732|206823|259673|267066|267566|267575|269177|269429|272350|272833|273163|273827|274517|274517|275297|275411|357094|357095|357096|357097|357098|357099|357100|357101|357102|357103|357104|357105|357106|357107|357108|357109|357110|357111|357112|365373|405212|405214|427839|448090|489006|515974|541148|541152|541154|541163|541165|541168|541174|541177|541179|541182|541189|541193|541195|541200|541202|541270|541271|541273|541279|541280|541282|541283|541285|541286|541287|541289|541290|541291|541293|541294|541296|541297|541298|541305|552046|557318|557371|628117|628118|628121|628124|628131|650690|685813|690631|690633|695053|696779|696780|707439|777139|789984|824212|824213|824215|864535|973097|977543|977544|977545|977546|977547|977548", + "text": "Muscle eye brain disease" + }, + { + "baseId": 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+ "text": "Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3" + }, + { + "baseId": 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+ "text": "Limb-girdle muscular dystrophy-dystroglycanopathy, type C3" + }, + { + "baseId": "19031|19033|19039|71217|71221|71221|71231|71232|71243|71249|172204|172205|248803|248805|248807|248808|259673|269429|274517|275297|405212|405214|587057", + "text": "Retinitis pigmentosa 76" + }, + { + "baseId": "19036|71232|101655|101656|101658|134731|134732|134733|134734|134735|135450|142488|172203|190323|195281|195383|195615|195925|195926|206823|229570|229571|249977|252661|265294|266194|266398|267551|269177|269303|270384|272620|273054|273827|273914|273915|280745|280746|280747|281212|281227|282490|282501|282502|282511|302341|302351|302352|302353|302363|302364|302368|302369|302374|302375|302377|302378|302385|302386|302391|302392|302397|302399|302400|302402|302406|302408|302410|305558|305560|305562|305563|305574|305575|305576|305579|305580|305588|305590|305592|305595|305613|305615|305616|305621|305625|305626|305632|305634|305641|305642|305643|305644|305646|305648|305649|305651|305653|305654|305656|305658|310371|310372|310382|310383|310385|310387|310390|310394|310396|310416|310426|310441|310445|310449|310451|310455|310459|310461|310482|310483|310489|310495|310498|310499|310500|310501|310508|310511|310513|310519|310523|310557|310564|310569|310587|310588|310590|310593|310596|310599|310602|310607|310627|310630|310632|310650|310654|310656|310657|310667|310669|310671|310672|310676|310678|337988|347603|352488|359364|369131|492150|501707|541296|588507|589630|619919|628130|628131|696780|732494|777643|864532|864533|864534|864535|864536|864537|864538|864539|864540|865188|865189|897756|897757|897758|897759|897760|897761|897762|897763|897764|897765|897766|897767|897768|897769|897770|897771|897772|897773|897774|897775|897776|897777|897778|897779|897780|897781|897782|897783|897784|897785|897786|897787|897788|897789|897790|897791|897792|897793|897794|897795|897796|897797|897798|897799|897800|897801|897802|897803|897804|897805|897806|897807|897808|897809|897810|897811|897812|897813|897814|897815|897816|897817|897818|897819|897820|897821|897822|897823|897824|897825|897826|897827|897828|897829|897830|900336", + "text": "Congenital Muscular Dystrophy, alpha-dystroglycan related" + }, + { + "baseId": "19040|101273|177625|191238|227306|270301|301375|301390|301393|301397|301398|301402|301407|304561|304564|304566|304584|304589|304590|304591|304592|304595|304600|304601|304603|304608|304609|304610|304621|304622|309194|309199|309209|309212|309214|309224|309230|309231|309238|309239|309240|309241|309244|309246|309248|309251|309252|309253|309404|309413|309414|309416|309421|309426|309430|309431|309432|309440|368827|368831|369119|369417|370651|424652|424653|444040|455974|455978|456529|494135|502151|514549|521952|522360|561183|566256|583101|620246|620247|622373|626169|635441|635442|635443|635444|651629|655762|692097|692098|699734|710693|744257|765967|789118|805521|832774|832775|832776|832777|897133|897134|897135|897136|897137|897138|897139|897140|897141|897142|897143|897144|897145|897146|897147|897148|897149|897150|897151|897152|897153|897154|897155|897156|897157|897158|897159|897160|897161|897162|897163|897164|897165|897166|897167|897168|897169|897170|897171|897172|897173|897174|897175|900294|900295|900296|920234|921226|921227|921228|921230|921231|921232|921234|921235|940055|954978|960618", + "text": "Congenital disorder of glycosylation type 2i" + }, + { + "baseId": "19041|19042|19043|278071|278075|278077|278079|278082|278083|278084|278087|278091|278092|278095|278096|278099|278100|278106|278107|278108|278109|278115|278118|278120|278121|278122|278123|278125|278126|278127|278129|278142|278149|278150|279035|279042|279044|279045|279049|279061|279070|279071|279073|279074|279078|279090|279091|279093|279108|279110|279112|279115|279240|279247|279248|279251|279252|279264|279265|279266|279269|279271|279272|279273|279276|279284|279287|432426|447327|447439|447541|447559|557070|627161|627162|627163|627164|650561|685590|685591|685592|685593|690429|690430|696328|731929|794509|801975|823054|823055|823056|823057|823058|863064|863065|863066|863067|863068|863069|863070|863071|863072|863073|863074|863075|863076|863077|863078|863079|863080|863081|863082|863083|863084|863085|863086|865067|865068|865069|865070|865071|865072|865073|865074|930185|952158|961748", + "text": "Deficiency of pyrroline-5-carboxylate reductase" + }, + { + "baseId": "19044|19045|19046|19047|19048|19049|19050|19051|19052|469838|469884|469887|469889|469889|469891|470841|470907|470908|471319|471321|471326|471330|471334|471795|471796|534055|538494|538495|571658|573199|649178|649179|689259|689260|689262|694667|694668|773425|849028|849029|849030|849031|929396|939191|939192|951329|959021|959022|959023", + "text": "Proline dehydrogenase deficiency" + }, + { + "baseId": "19044|19045|19046|19047|19048|19049|19050|19052|469889", + "text": "Schizophrenia 4" + }, + { + "baseId": "19053|19054|19055|54956|54957|54958|54959|54961|54962|54963|54964|54965|54966|54967|54968|54969|54970|54971|54972|54973|54974|54975|54976|54978|54980|54981|54982|54983|54984|54985|54986|54987|54988|88805|174654|174655|174656|174659|174661|174662|174663|174665|174924|174925|174927|174929|174932|174933|174934|174936|174937|174938|174940|174941|227337|229771|229776|229777|229781|229782|229783|229789|229790|265828|275061|310065|310066|310072|310075|310086|310089|310090|310096|310097|310099|315093|315095|315097|315103|315112|315118|315119|315120|315122|315153|315155|315162|321126|321133|321134|321141|321142|321144|321149|321152|321159|321163|321165|321170|321171|321172|321173|321176|321708|321720|321723|321724|321730|321735|321741|321742|321743|438767|444595|609748|615808|615809|615837|620354|620355|620356|620357|620358|620359|638842|790956|793366|865733|865734|865735|865736|865737|865738|865739|865740|865741|865742|865743|865744|865745|865746|865747|865748|865749|865750|865751|865752|868465", + "text": "Deafness, autosomal recessive 30" + }, + { + "baseId": "19056|19057|19058|99846|99847|99850|99852|99854|134263|134264|191241|191558|205796|266934|337138|337146|337152|337156|337166|346875|346885|346886|346888|346890|346901|346904|350939|350943|350946|350949|350952|350957|350961|351937|351941|351944|351954|378513|469836|470829|482221|493775|534022|534106|571656|620676|620677|620678|620679|649131|649132|649133|649134|649135|649136|694662|742710|742712|786537|821385|848982|848983|852417|852917|929387|951293|951294|951295|959012", + "text": "GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY" + }, + { + "baseId": "19059", + "text": "Acid alpha-glucosidase, allele 2" + }, + { + "baseId": 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+ "text": "Glycogen storage disease, type II" + }, + { + "baseId": "19060|19061|19064|19067|19068|610587", + "text": "Glycogen storage disease type II, infantile" + }, + { + "baseId": "19062|19063|19065|19066|19071|19074|19075", + "text": "Glycogen storage disease II, adult form" + }, + { + "baseId": "19066|21965|27037|27039|31088|260196|358501|448519|620443|654717", + "text": "Glycogen storage disease" + }, + { + "baseId": "19069", + "text": "Acid alpha-glucosidase, allele 4" + }, + { + "baseId": "19077|19078|131951|131952|508861|508862|967125", + "text": "Ichthyosis, congenital, autosomal recessive 11" + }, + { + "baseId": "19079|19080|19081|19082|19083|19084|19085|19086|19087|19088|19089|19090|19091|19092|19093|85021|227221|250164|250165|250166|250167|250168|250170|250173|250174|250175|250292|281897|281899|281900|281992|281993|282058|282059|282078|282079|282084|282293|282528|282529|282630|282631|282633|282685|282693|282708|282739|282740|282742|282745|282996|282997|284188|284193|284202|284295|284298|284299|284300|284304|284339|284436|284439|284440|284444|284526|284528|284532|284533|284534|284535|284554|284555|284572|284575|284938|284947|284948|360819|361166|421275|576091|612258|612259|620033|697043|697044|697046|707747|707748|719276|719282|732794|762198|778886|790066|857345|881106|881107|881108|881109|881110|881111|881112|881113|881114|881115|881116|881117|881118|881119|881120|881121|881122|881127|881189|881190|881191|881194|881238|881239|881240|881241|881242|881243|881244|882802|882803|882804|882807|904876|918671|918674", + "text": "Deficiency of iodide peroxidase" + }, + { + "baseId": "19094|19095|19096|19097|19098|19099|19100|101399|101400|101401|101402|101404|141935|141936|141937|141938|200300|247120|326464|326467|326476|326477|326481|326484|336230|336237|336238|336243|336247|336251|336259|336263|336265|336269|336271|336272|336274|336278|336281|336285|342469|342473|342476|342477|342480|342481|342482|342484|342486|342492|344131|344133|344134|344137|344138|344139|344142|344143|374618|375507|375520|375531|375532|375686|375687|409746|426185|466056|466065|466824|466832|467109|505543|530341|530344|530430|530435|530602|568428|569400|570537|570584|574190|645062|645063|645064|645065|688667|695707|740390|755428|820888|844413|844414|844415|844416|844417|844418|857403|876035|876036|876037|876038|876039|876040|876041|876042|876043|876044|876045|876046|876047|876048|876049|876050|876051|876052|876053|876054|876055|876056|876057|876058|876723|927977|927978|927979|927980|937643|937644|957902|957903", + "text": "Deficiency of malonyl-CoA decarboxylase" + }, + { + "baseId": "19101|19102|19103|19104|187124|187125|227367|227368|237177|255228|255229|255230|255231|255232|255233|255234|255235|255236|255237|255238|255239|255240|255241|264574|271316|322584|322586|322587|322589|322590|322592|322604|322605|322607|322608|322612|322614|322618|322620|322621|322622|322624|322629|322632|322633|332060|332064|332068|332071|332074|332075|332080|332082|332084|332086|332092|332099|332110|332111|332127|332129|332138|332140|332145|332148|332152|332155|339022|339029|339031|339034|339040|339046|339047|339051|339063|339064|339065|339067|339070|339071|339087|339098|339102|339105|339106|339110|340593|340597|340603|340605|340607|340608|340609|340618|340619|340621|340634|340636|340637|340644|340646|364107|409243|409247|445329|512140|538442|609269|609270|620516|620517|620518|620519|620520|620521|620522|621483|626316|703228|703229|703230|714464|714465|726101|726104|730999|731001|739640|739646|739647|754473|754474|754476|754481|754483|770181|770183|778245|791454|873587|873588|873589|873590|873591|873592|873593|873594|873595|873596|873597|873598|873599|873600|873601|873602|873603|873604|873605|873606|873607|873608|873609|873610|873611|873612|873613|873614|873615|873616|873617|873618|873619|873620|873621|873622|873623|873624|873625|873626|873627|873628|873629|873630|873631|873632|873633|873634|873635|873636|873637|873638|873639|873640|873641|873642|873643|873644|873645|873646|873647|873648|873649|873650|873651|873652|873653|873654|873655|876519|876520|876521|876522|876523|876524|876525|876526|876527|903688|903691|903692|906176|973036", + "text": "Thyroid dyshormonogenesis 6" + }, + { + "baseId": "19105|19106|19108|19109|19110|19111|19112|39560|39561|39562|131935|131936|131937|131938|131939|131940|131941|131942|131943|131944|131945|131946|274485|335338|335358|335359|335360|335361|335369|335371|335374|335378|345199|345200|345203|345205|349932|349936|349937|349940|349941|349943|349944|350941|350942|350945|350947|350950|350951|350954|350955|350958|442289|471355|533596|537001|550312|571202|571210|572881|572886|573455|575091|575091|575092|575093|575094|583131|624677|648644|648645|648646|648647|648648|648649|648650|648651|648652|648653|648654|648655|648656|648657|648658|648659|653099|653196|653541|716950|731341|757494|757495|757496|757497|757500|757501|760951|773095|773096|776936|780209|786367|788077|788937|789389|791979|821319|821320|821321|821322|821323|821324|848363|848364|848365|848366|848367|848368|848369|848370|848371|848372|848373|848374|848375|848376|848377|848378|848379|851849|886058|886059|886060|886061|886062|886063|886064|886065|886066|886067|886068|886069|886070|886071|887457|887458|929174|929175|929176|929177|929178|938969|938970|938971|938972|940508|951087|951088|951089|958830|958831|958832|958833|958834|965449", + "text": "Aicardi Goutieres syndrome 5" + }, + { + "baseId": "19113|19114|19115|678038", + "text": "Atrial septal defect 6" + }, + { + "baseId": "19116|19117|19118|19119|19120|19121|19122|19123|19124|19125|39557|39558|78985|78987|78989|106596|134235|134236|140505|190553|195734|202867|202869|202871|202871|202880|202895|202896|217194|332905|361660|445413|465133|489664|513349|513350|513351|513633|547494|547496|547501|547502|547504|547505|547512|547515|547518|547519|547521|547731|547732|547734|547736|547737|548146|548148|548159|551390|551391|551392|551393|569589|612357|802207|858717|906332|972210|972211|972212", + "text": "Neuronal ceroid lipofuscinosis 6" + }, + { + "baseId": "19126|19126|19127|19128|19128|19130|19131|19131|19132|19133|19135|19136|19136|19137|19137|19138|19139|70651|70652|70653|70654|70655|70655|70657|70658|70659|70660|70661|70662|70662|70663|70664|70665|70666|70667|70668|75348|76466|76466|76467|76467|76468|193370|193372|193372|251814|251814|251815|251815|251816|251816|251817|251817|265354|265354|265355|265355|267147|267147|268613|274270|274270|296301|296302|296303|296306|296306|296314|296316|296323|296325|296328|296332|296335|296337|296339|296341|296346|296347|296348|296354|296356|296360|298117|298139|298140|298144|298145|298146|298149|298150|298151|298155|298163|298164|298165|298166|298167|298173|298181|298182|298188|302172|302178|302181|302182|302183|302183|302184|302187|302188|302193|302193|302195|302198|302203|302205|302208|302209|302240|302241|302245|302246|302248|302250|302251|302270|302275|302276|302293|302298|302424|302427|302428|302433|302433|302435|302436|302437|302438|302439|302440|302443|302450|302455|302466|302467|302480|302481|302486|302487|302495|302498|357392|357393|357394|357395|357396|357396|357397|357398|357399|357400|357401|357402|357403|357403|357404|357405|357406|357407|357408|357409|357410|357411|414994|414994|487047|500718|543337|633630|633631|633632|633633|633634|655645|698914|709729|734929|734930|734932|805005|830533|830534|830535|893524|893525|893526|893527|893528|893529|893530|893531|893532|893533|893534|893535|893536|893537|893538|893539|893540|893541|893542|893543|893544|893545|893546|893547|893548|893549|893550|893551|893552|893553|893554|893555|893556|893557|893558|893559|893560|893561|893562|893563|893564|893565|893566|893567|893568|893569|893570|893571|893572|893573|893574|893575|923947|932794|932795|944488|944489|944490|954090|954091|954092", + "text": "Diastrophic dysplasia" + }, + { + "baseId": "19126|19126|19127|19128|19128|19129|19130|19130|19131|19131|19136|19136|19137|19137|70653|70655|70657|70662|75348|76466|76466|76467|76467|76468|193370|193372|193372|228215|251814|251814|251815|251815|251816|251816|251817|251817|265354|265354|265355|265355|267147|267147|268613|274270|274270|296301|296302|296303|296306|296306|296314|296316|296323|296325|296328|296332|296335|296337|296339|296341|296346|296347|296348|296354|296356|296360|298117|298139|298140|298144|298145|298146|298150|298151|298155|298163|298166|298167|298181|298182|298188|302172|302178|302181|302182|302183|302183|302184|302187|302188|302193|302193|302195|302198|302203|302205|302209|302240|302241|302245|302246|302248|302250|302251|302270|302275|302276|302293|302298|302424|302427|302428|302433|302433|302435|302436|302437|302438|302440|302443|302450|302455|302466|302467|302481|302495|302498|357392|357393|357394|357395|357396|357396|357397|357398|357399|357400|357401|357402|357403|357403|357404|357405|357406|357407|357408|357409|357410|357411|414994|414994|487047|500718|543337|633630|633631|633632|633633|633634|655645|698914|709729|734929|734930|734932|830533|830534|830535|893524|893525|893526|893527|893528|893529|893530|893531|893532|893533|893534|893535|893536|893537|893538|893539|893540|893541|893542|893543|893544|893545|893546|893547|893548|893549|893550|893551|893552|893553|893554|893555|893556|893557|893558|893559|893560|893561|893562|893563|893564|893565|893566|893567|893568|893569|893570|893571|893572|893573|893574|893575|923947|932794|932795|944488|944489|944490|954090|954091|954092", + "text": "Atelosteogenesis type II" + }, + { + "baseId": "19126|19126|19127|19128|19128|19130|19131|19131|19132|19133|19136|19136|19137|19137|70653|70655|70657|70662|75348|75348|76466|76466|76467|76467|76468|193370|193372|193372|251814|251814|251815|251815|251816|251816|251817|251817|265354|265354|265355|265355|267147|267147|268613|268613|274270|274270|296301|296302|296303|296306|296306|296314|296316|296323|296325|296328|296332|296335|296337|296339|296341|296346|296347|296348|296354|296356|296360|298117|298139|298140|298144|298145|298146|298150|298151|298155|298163|298166|298167|298181|298182|298188|302172|302178|302181|302182|302183|302183|302184|302187|302188|302193|302193|302195|302198|302203|302205|302209|302240|302241|302245|302246|302248|302250|302251|302270|302275|302276|302293|302298|302424|302427|302428|302433|302433|302435|302436|302437|302438|302440|302443|302450|302455|302466|302467|302481|302495|302498|357392|357393|357394|357395|357396|357396|357397|357398|357399|357400|357401|357402|357403|357403|357404|357405|357406|357407|357408|357409|357410|357411|414994|414994|487047|500718|543337|633630|633631|633632|633633|633634|633634|655645|655645|698914|709729|709729|734929|734929|734930|734932|782214|805081|830533|830534|830535|893524|893525|893526|893527|893528|893529|893530|893531|893532|893533|893534|893535|893536|893537|893538|893539|893540|893541|893542|893543|893544|893545|893546|893547|893548|893549|893550|893551|893552|893553|893554|893555|893556|893557|893558|893559|893560|893561|893562|893563|893564|893565|893566|893567|893568|893569|893570|893571|893572|893573|893574|893575|923947|932794|932795|944488|944489|944490|954090|954091|954092|964243|978156|978157|978158|978159", + "text": "Achondrogenesis, type IB" + }, + { + "baseId": "19126|19128|19131|19136|19137|70665|70666|76466|76467|76468|186695|193370|193372|251814|251815|251816|251817|265354|265355|267147|274270|296301|296302|296303|296306|296314|296316|296323|296325|296328|296332|296335|296337|296339|296341|296346|296347|296348|296354|296356|296360|298117|298139|298140|298144|298145|298146|298149|298150|298151|298155|298163|298164|298165|298166|298167|298173|298181|298182|298188|302172|302178|302181|302182|302183|302184|302187|302188|302193|302195|302198|302203|302205|302208|302209|302240|302241|302245|302246|302248|302250|302251|302270|302275|302276|302293|302298|302424|302427|302428|302433|302435|302436|302437|302438|302439|302440|302443|302450|302455|302466|302467|302480|302481|302486|302487|302495|302498|357396|414994|487047|543810|610502|610503|610504|610505|610506|610507|610508|610509|893524|893525|893526|893527|893528|893529|893530|893531|893532|893533|893534|893535|893536|893537|893538|893539|893540|893541|893542|893543|893544|893545|893546|893547|893548|893549|893550|893551|893552|893553|893554|893555|893556|893557|893558|893559|893560|893561|893562|893563|893564|893565|893566|893567|893568|893569|893570|893571|893572|893573|893574|893575|916952|916953|965835", + "text": "Osteochondrodysplasia" + }, + { + "baseId": "19126|19127|19128|19128|19129|19130|19130|19131|19131|19133|19136|19136|19137|19137|70653|70655|70655|70657|70662|70666|75348|76466|76466|76467|76467|76468|186695|193370|193372|193372|251814|251814|251815|251815|251816|251816|251817|251817|265354|265354|265355|265355|267147|267147|268613|274270|274270|296301|296302|296303|296306|296306|296314|296316|296323|296325|296328|296332|296335|296337|296339|296341|296346|296347|296348|296354|296356|296360|298117|298139|298140|298144|298145|298146|298149|298150|298151|298155|298163|298164|298165|298166|298167|298173|298181|298182|298188|302172|302178|302181|302182|302183|302183|302184|302187|302188|302193|302193|302195|302198|302203|302205|302208|302209|302240|302241|302245|302246|302248|302250|302251|302270|302275|302276|302293|302298|302424|302427|302428|302433|302433|302435|302436|302437|302438|302439|302440|302443|302450|302455|302466|302467|302480|302481|302486|302487|302495|302498|357392|357393|357394|357395|357396|357396|357397|357398|357399|357400|357401|357402|357403|357403|357404|357405|357406|357407|357408|357409|357410|357411|414994|414994|487047|500718|543326|543337|543337|543341|543348|543351|543354|543356|543359|543362|543602|543605|543608|543613|543615|543624|543703|543705|543706|543708|543710|543711|543718|543725|543795|543796|543797|543798|543801|543806|543809|543810|543812|612468|633630|633631|633632|633633|633634|655645|698914|709729|734929|734930|734932|830533|830534|830535|893524|893525|893526|893527|893528|893529|893530|893531|893532|893533|893534|893535|893536|893537|893538|893539|893540|893541|893542|893543|893544|893545|893546|893547|893548|893549|893550|893551|893552|893553|893554|893555|893556|893557|893558|893559|893560|893561|893562|893563|893564|893565|893566|893567|893568|893569|893570|893571|893572|893573|893574|893575|923947|932794|932795|944488|944489|944490|954090|954091|954092", + "text": "Multiple epiphyseal dysplasia type 4" + }, + { + "baseId": "19128|19131|19136|70655|543810", + "text": "SLC26A2-Related Disorders" + }, + { + "baseId": "19128|19131|19136|19137|39925|39926|39927|39928|39929|39930|626129|980445", + "text": "3MC syndrome 2" + }, + { + "baseId": "19135", + "text": "Diastrophic dysplasia, broad bone-platyspondylic variant" + }, + { + "baseId": "19138", + "text": "de la Chapelle dysplasia" + }, + { + "baseId": "19140|135486|135487|135488|207097|207102|207105|292107|292108|292111|292116|292120|292132|292133|292140|292141|293542|293547|293551|293552|293553|293555|293561|296835|296843|296853|296856|296857|296860|296867|296869|296872|296874|296875|296876|296879|296881|296882|428256|428262|434590|439129|620143|620144|620145|620772|622337|709136|720719|720720|748686|890023|890024|890025|890026|890027|890028|890029|890030|890031|890032|890033|890034|890035|890036|890037|890038|890039|890040|890041|890042|890043|890044|890045|890046|890047|890048|890049|890050|890051|890052|890053|890054|890055|890056|890057|890058|890059|890060|890061|890062|890063|891743|891744|891745|891746|891747", + "text": "Mental retardation, autosomal recessive 1" + }, + { + "baseId": "19141|19144|57024|57025|57027|57032|57033|57035|57037|57038|57041|88600|174571|174574|174847|174849|181568|270989|308677|308678|308681|308682|308683|313238|313243|313249|313250|313251|313261|313269|319058|319061|319062|319063|319071|319072|319073|319074|319680|319687|319688|404781|404782|497055|536777|585701|796330|902290|902291|902292|902293|902294|902295|902296|902297|902298|902299|902300|902301|902302|902303|902304", + "text": "Deafness, autosomal dominant 36" + }, + { + "baseId": "19142|19143|19145|19146|57024|57025|57027|57028|57032|57033|57035|57037|57038|57041|88600|174571|174574|174847|174849|229701|229709|237604|237605|270989|272121|308677|308678|308681|308682|308683|313238|313243|313249|313250|313251|313261|313269|319058|319061|319062|319063|319071|319072|319073|319074|319680|319687|319688|389230|404781|404782|497055|536777|553259|553260|585701|610566|611985|615807|622690|790916|796330|902290|902291|902292|902293|902294|902295|902296|902297|902298|902299|902300|902301|902302|902303|902304|919238", + "text": "Deafness, autosomal recessive 7" + }, + { + "baseId": 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+ "text": "Autosomal recessive polycystic kidney disease" + }, + { + "baseId": "19147", + "text": "Colorectal cancer, protection against" + }, + { + "baseId": "19147|360881", + "text": "Periportal fibrosis" + }, + { + "baseId": "19147|19153|102029|186711|195475|581284|581285|581286|581287|581289|581290|581292|581293|619856|620235|626409|626410|626411|672253|672254|672303", + "text": "Polycystic liver disease" + }, + { + "baseId": 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+ "text": "Leukoencephalopathy with vanishing white matter" + }, + { + "baseId": "19160|19161|19375|19377|19378|19379|20984|20987", + "text": "Ovarioleukodystrophy" + }, + { + "baseId": "19164|19165|19166|19167|19168|19169|19170|19171|19172|34528|34530|34531|208781|208783|208784|231136|231137|257586|257587|271892|274088|337646|337654|337662|337664|337666|337668|337672|337675|337677|337679|337684|337697|337698|337701|347221|347246|347247|347249|347252|347255|347257|347261|347268|351232|351235|351239|351240|351243|351247|351248|351253|351254|351257|351258|351260|351264|351265|351268|352275|352309|352310|352311|352312|352313|352314|352315|352317|352319|352325|493526|729115|742832|745341|758018|758019|890977|890978|890979|890980|890981|890982|890984|890985|890986|890987|890988|890989|890990|890991|890993|890994|890996|890997|890998|890999|891000|891001|891002|891003|891004|891005|891006|891007|891008|891009|891010|891011|891012|891013|891014|891015|891016|891017|891018|891019|891020|891021|891022|891023|891814|891815", + "text": "Hermansky-Pudlak syndrome 4" + }, + { + "baseId": "19173|19174|19175|19176|19177|19178|19179|19180|19181|19182|19183|19184|19185|101931|101940|101941|101949|101952|101953|101955|101956|101957|101971|101971|101976|168108|168109|168115|168116|168117|168118|168119|168120|168121|168122|168124|168126|168128|168130|168131|168132|168133|168135|168138|168140|168141|168142|168143|168144|168146|168147|168149|168150|168151|168152|168153|168155|168157|168158|168160|168161|168162|168164|168165|168168|168170|168171|168172|168174|168175|168176|168177|168178|168179|168180|168180|168181|168182|168183|168184|168185|168186|168187|168188|168190|168192|168193|168194|168195|168196|168197|168198|168199|168200|168202|168203|168204|168205|168206|168207|168208|168210|168211|168212|168213|168214|168215|168216|168217|168218|168219|168220|168221|168222|168223|168224|168225|168226|168227|168228|168229|168230|168231|168232|168233|168235|168236|168237|168238|168239|168240|168241|168242|168243|168243|168244|168246|168247|168248|168249|168250|168251|168252|168253|168254|168255|168256|168257|168258|168259|168260|168261|168262|168263|168264|168265|168266|168267|168269|168270|168271|168272|168273|168274|168275|168276|168278|168279|168280|168281|168282|168283|168284|168285|168286|168287|168288|168289|168294|168295|168296|168297|191835|191835|198625|205743|205744|207177|207178|207180|207181|207182|207183|207184|207185|207186|207187|207188|207189|207190|207191|207192|207193|207194|207195|207196|207197|207198|207199|207200|207201|207202|207203|207204|207205|207206|207207|209314|213557|213558|244157|264188|264205|298941|353894|368100|394967|424561|424893|428385|428387|428388|428390|428391|455687|481233|481433|500781|513278|521082|521439|521559|536308|537656|537776|537777|537778|537779|537780|537781|537782|537783|537784|537785|537786|552086|552087|611388|612189|624848|624849|625796|626150|633789|653868|653869|788776|789248|790539|790540|790541|790542|790543|790544|790545|790546|790547|798558|798559|830687|918944|918945|918946|918947|918948|918949|961648|963579|963581|964250|964251|966152|969736|970803|970804|971548|971549|976639|980324|980325", + "text": "Sotos syndrome 1" + }, + { + "baseId": "19186|19187|19188|19189|106031|106032|106036|106037|106038|106040|106041|227414|337627|337635|337637|337639|337641|347206|347207|347210|347212|351205|351206|351208|351211|351212|351215|351216|351219|351220|352222|352223|352225|352234|352235|352236|438924|439218|539103|620684|705837|717366|717367|792023|890940|890941|890942|890943|890944|890945|890946|890947|890948|890949|890950|890951|890952|890953|890954|890955|890956|890957|890958|890959|891812|961792", + "text": "Deficiency of beta-ureidopropionase" + }, + { + "baseId": "19190|19195|19196|429985", + "text": "Bernard-Soulier syndrome, type A1" + }, + { + "baseId": "19191", + "text": "PLATELET GLYCOPROTEIN Ib POLYMORPHISM" + }, + { + "baseId": "19191|404833", + "text": "Nonarteritic anterior ischemic optic neuropathy, susceptibility to" + }, + { + "baseId": "19192|19194|404833|576180", + "text": "Pseudo von Willebrand disease" + }, + { + "baseId": "19193|19195|404833|576180", + "text": "Bernard-Soulier syndrome, type A2, autosomal dominant" + }, + { + "baseId": "19194", + "text": "Impaired ristocetin-induced platelet aggregation" + }, + { + "baseId": "19198|26767|29868|29869|29870|29871|45767|205017|360849|424978", + "text": "Cryptorchidism" + }, + { + "baseId": "19199|19200|19201|39555|141164|141165|141166|141167|141168|141169|141171|141172|141173|210949|210951|210952|210956|210958|210959|210961|210964|210968|210970|289258|289259|289270|289271|289272|290038|290039|290042|290043|290044|290054|293119|293120|293121|293122|293125|293129|293141|293147|293519|293528|293531|293532|293543|293569|293571|293574|293575|293589|293590|293593|293594|361581|367003|513259|513606|513607|549907|578411|578446|620757|620758|626127|631021|654317|720276|720277|733888|748088|748089|748090|763713|763718|774813|790354|790355|800333|800334|800336|800337|800338|800339|800340|857615|888242|888243|888244|888245|888246|888247|888248|888249|888250|888251|888252|888253|888254|888255|888256|891597|918810|918811|977816|977817|977818|977819|977820", + "text": "Combined oxidative phosphorylation deficiency 1" + }, + { + "baseId": "19202", + "text": "Vitiligo-associated multiple autoimmune disease susceptibility 1" + }, + { + "baseId": "19203|19204|19205|19206|198643|513725|961892|961893", + "text": "Enterokinase deficiency" + }, + { + "baseId": "19207|101552|101553|166171|191821|252482|252483|252484|252485|252486|252487|252489|272085|300963|300970|300971|300973|300974|300976|300977|300983|300984|300994|301000|301011|301012|301013|303905|303906|303909|303917|303926|303931|303933|303935|303961|303969|303973|303974|303981|303983|303987|308591|308592|308594|308603|308614|308616|308617|308618|308619|308623|308624|308626|308628|308629|308630|308633|308634|308635|308638|308640|308642|308644|308645|308650|308655|308658|308659|308663|308664|308669|308676|308679|308680|308686|308694|489127|489884|620243|626165|699647|750170|750175|750196|816506|832311|832312|832315|832328|859554|896791|896792|896793|896794|896795|896796|896797|896798|896799|896800|896801|896802|896803|896804|896805|896806|896807|896808|896809|896810|896811|896812|896813|896814|896815|896816|896817|896818|896819|896820|896821|896822|896823|896824|896825|896826|896827|896828|900261|900262|900263|900264|900265|900266|900267|919047|919048|919049|919050", + "text": "Cone-rod dystrophy 7" + }, + { + "baseId": "19208|19209|215757", + "text": "Glycine N-methyltransferase deficiency" + }, + { + "baseId": "19210|19211|19212|19213|19214|19215|19216|19217|191057|193617|193619|194958|194959|194960|195363|215101|250558|250559|250560|250562|250564|250565|250566|250568|266001|266016|266451|266925|267317|272109|272358|275006|284640|284645|284647|284648|285330|285335|285336|285337|285338|287489|287502|287503|287506|287507|287510|287511|287512|287743|287747|287764|287766|287770|287774|287776|360834|414867|450381|450530|450609|450619|450693|486833|488124|488851|489418|492831|513024|517693|517697|517700|517794|517795|517796|517822|553541|553542|557878|557880|557923|557925|557927|560883|560884|560887|589673|590239|614241|620059|620060|629437|629438|629439|629440|629441|629442|629443|629444|629445|629446|629447|629448|629449|629450|629451|650746|650796|708020|708021|708022|733153|733154|733155|743868|747282|747283|747285|762895|762898|762901|762902|762903|762904|762905|762906|762907|762909|762910|762912|774699|781161|781162|781166|781167|792728|815895|825716|825717|825718|825719|825720|825721|825722|825723|825724|825725|825726|825727|850880|851149|858547|883724|883725|883726|883727|883728|883729|883730|883731|883732|883733|887273|918735|922567|922568|922569|931134|931135|931136|931137|931138|931139|931140|931141|942604|942605|942606|952924|952925|952926|952927|952928|952929|952930|962857|977676|977677|977678|977679|977680|977681|977682|977683|977684|980306", + "text": "Schimke immuno-osseous dysplasia" + }, + { + "baseId": "19218|19218|19219|19220|19220|19221|19223|19224|19224|102136|131917|131918|131919|131919|131920|131921|131922|131923|131924|131925|131926|131926|131927|131927|205734|205735|205735|227260|227261|227261|251190|267003|290906|290910|290911|290911|290916|290916|290917|290917|291839|291839|291840|291840|295050|295056|295056|295083|353892|361357|361357|440822|443470|452738|452739|513538|513538|513538|519366|519372|519561|559016|559018|563013|563020|576706|576707|576708|608780|612264|612656|620765|631490|631491|631492|631493|631494|679823|698152|698153|698154|708908|720509|748330|748330|790399|795443|795443|804999|804999|828232|828233|828234|828235|828236|828237|828238|828239|828240|828241|828242|828243|828244|828245|889237|889237|889238|889239|889240|889241|903526|923236|931982|931983|931984|943590|943591|943592|943593|943594|953509|953510|970772", + "text": "Aicardi Goutieres syndrome 1" + }, + { + "baseId": "19218|20505|20506|23948|27427|31890|31891|31960", + "text": "Systemic lupus erythematosus, susceptibility to" + }, + { + "baseId": "19218|19218|19220|19224|19226|102135|102136|102136|131919|131926|131927|205735|227261|251190|251190|290894|290897|290906|290910|290911|290911|290916|290916|290917|290917|291832|291833|291839|291839|291840|291840|291841|295022|295050|295056|295056|295083|295410|295418|295421|295439|361357|361357|440822|443470|443470|452738|452739|513538|513538|519366|519372|519561|559016|559018|563013|563020|576706|576707|576708|612656|620765|631490|631491|631492|631493|631494|698152|698153|698154|708908|720509|748330|748330|795443|795443|804999|828232|828233|828234|828235|828236|828237|828238|828239|828240|828241|828242|828243|828244|828245|889237|889237|889238|889239|889240|889241|923236|931982|931983|931984|943590|943591|943592|943593|943594|953509|953510", + "text": "Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations" + }, + { + "baseId": "19218|19220|19222|19224|19224|102136|131919|131926|205735|227261|251190|290911|290916|290917|291839|291840|295056|361357|361357|443470|452738|452739|513538|513538|519366|519561|559016|559018|576706|576707|576708|612656|631490|631491|631492|631493|631494|698152|698153|698154|708908|720509|748330|795443|804999|828232|828233|828234|828235|828236|828237|828238|828239|828240|828241|828242|828243|828244|828245|889237|923236|931982|931983|931984|943590|943591|943592|943593|943594|953509|953510", + "text": "Chilblain lupus 1" + }, + { + "baseId": "19223|19224", + "text": "Aicardi Goutieres syndrome 1, autosomal dominant" + }, + { + "baseId": "19227|247504|249815|266292|447817|515626|515629|556821|823611", + "text": "Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive" + }, + { + "baseId": "19227|20887|20888|20888|20889|20890|20890|20891|20892|20893|20894|20895|20898|20899|76662|250081|250082|250083|250084|259688|268021|280019|281531|281537|283532|283546|442904|448537|448540|448635|448647|448659|448661|448663|448751|448754|513511|516303|516309|516315|516391|516392|516392|557486|557539|557541|558697|558699|622270|622271|628405|628406|628407|628408|628409|650695|650781|685832|690701|690702|690705|780808|816440|824670|824671|824672|824673|824674|824675|824676|824677|863970|863978|863987|922224|930767|930768|939839|942195|952608", + "text": "Autosomal recessive hypohidrotic ectodermal dysplasia syndrome" + }, + { + "baseId": "19228|249815|266292|447817|515626|515629|556821|823611", + "text": "Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant" + }, + { + "baseId": "19228|20888|20888|20890|20891|20892|20892|250081|250082|250083|250084|259688|263002|268021|281537|283532|283546|404752|442904|448537|448540|448635|448647|448659|448661|448663|448751|448754|516303|516309|516315|516391|516392|557486|557539|557541|558697|558699|620024|620732|628405|628406|628407|628408|628409|650695|650781|685832|690701|690702|690705|780808|824670|824671|824672|824673|824674|824675|824676|824677|922224|930767|930768|939839|942195|952608|961039", + "text": "Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant" + }, + { + "baseId": "19229|19230|19231|19232|19232|19234|19237|19237|19238|19239|19241|46970|48563|59596|165506|212638|212639|213815|221768|240400|240401|240402|244523|244524|244525|244526|244527|244528|253176|253176|370335|371968|396265|396279|396551|396683|396685|396688|396930|415146|444305|457966|457969|457976|457979|457987|458529|458531|458539|458540|458541|458542|458610|458625|459011|459012|459018|459025|459027|459029|459032|459037|459045|459046|459046|502368|523701|523703|523708|523709|524298|524304|562502|563070|563073|565214|565215|565224|565225|565227|568100|568105|590031|609702|625159|625186|637390|637391|637392|637393|637394|637395|637396|637397|637398|637399|637400|637401|651763|651996|683019|684027|687318|687319|790814|790815|819986|835038|835039|835040|835041|835042|835043|835044|835045|835046|835047|835048|835049|835050|851706|851708|905246|925261|934419|940113|946177|946178|946179|946180|946181|946182", + "text": "Charcot-Marie-Tooth disease, type 4A" + }, + { + "baseId": "19230|19232|19237|19237|19238|19239|19240|19241|19242|19243|59595|59596|59597|213815|214841|253176|459046|550866|788830|804741|804742|962982|970887", + "text": "Charcot-Marie-Tooth disease type 2K" + }, + { + "baseId": "19230|19232|19232|212639|253176|305846|305851|305852|305855|305861|305865|305866|305869|305874|305878|309933|309934|309941|309942|309943|309944|309950|309951|309952|315143|315149|315151|315152|315161|315165|315172|315173|315177|315178|315188|315208|315210|315265|315268|315275|315280|315285|315291|315292|315294|315296|315298|371968|458542|459037|459046|835046|835050|900018|900019|900020|900021|900022|900023|900024|900025|900026|900027|900028|900029|900030|900031|900032|900033|900034|900035|900036|900037|900038|900039|900040|900041|900042|900043|900044|900045|900046|900047|900048|900049|900050|900051", + "text": "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive" + }, + { + "baseId": "19232|19233", + "text": "Neuropathy, axonal, with vocal cord paresis, autosomal recessive" + }, + { + "baseId": "19232|19234|19236|19237|19239|48563|212639|213815|244526|253176|305846|305851|305852|305855|305861|305865|305866|305869|305874|305878|309933|309934|309941|309942|309943|309944|309950|309951|309952|315143|315149|315151|315152|315161|315165|315172|315173|315177|315178|315188|315208|315210|315265|315268|315275|315280|315285|315291|315292|315294|315296|315298|371968|458542|459037|459046|540453|625167|835046|835050|900018|900019|900020|900021|900022|900023|900024|900025|900026|900027|900028|900029|900030|900031|900032|900033|900034|900035|900036|900037|900038|900039|900040|900041|900042|900043|900044|900045|900046|900047|900048|900049|900050|900051", + "text": "Charcot-Marie-Tooth disease, recessive intermediate A" + }, + { + "baseId": "19239|29215|244165|360906|361106|686427", + "text": "Sensory neuropathy" + }, + { + "baseId": "19239", + "text": "Elevated alkaline phosphatase" + }, + { + "baseId": "19239|222818|430295|677208|677246|677256|677259|677267|677268|682751|962129|962130|971043", + "text": "Polyneuropathy" + }, + { + "baseId": "19239|213789|283972|302805|311091|311092|311094|360832|514154|638747|677221|804737|804740|804745", + "text": "Peripheral axonal neuropathy" + }, + { + "baseId": "19239", + "text": "GDAP1-Related Disorders" + }, + { + "baseId": "19244|19245|19246|19247|19248|19249|19250|19251|19256|39552|39553|137045|215772|228936|236857|264092|264095|481047|481048|481049|481050|481051|481052|481053|481054|495125|496224|496265|496686|535279|535281|535282|537710|537711|537712|537713|537714|537715|537716|537717|537718|537719|537720|537721|537722|537723|537724|537725|537727|537728|537729|537730|537731|537732|537733|788750|789351|790202|815856|964194|983612|983616|983617|983618|983619|983620|983621|983622", + "text": "Waardenburg syndrome type 1" + }, + { + "baseId": "19251|19253|19254|19255|496224|496686|537726", + "text": "Klein-Waardenberg's syndrome" + }, + { + "baseId": "19252|192593|215772|228928|228929|228930|228931|228936|228937|228938|284872|284880|284881|284886|285534|285535|287842|287843|287860|287879|287881|287886|288118|288125|288126|288127|288130|496224|496263|496686|496686|747372|747374|883882|883883|883884|883885|883886|883887|883888|883889|883890|883891|883892", + "text": "Craniofacial-deafness-hand syndrome" + }, + { + "baseId": "19257|19258|19259|19274", + "text": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5" + }, + { + "baseId": "19259|19260|19260|19260|19263|19264|19265|19266|19274|102006|134502|243357|266484|273802|273959|403314|446153|468910|481141|533194|533194|919879|919880", + "text": "Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5" + }, + { + "baseId": "19259|19260|19260|19260|19261|19262|19263|19265|19267|19268|19269|19270|19271|19272|19274|101999|102001|102002|102003|102004|102006|102008|102009|134502|134502|134503|141083|177298|194503|194507|208610|243355|243356|243357|243357|257157|257158|266484|266484|267061|267103|267275|267542|268719|269533|269670|271057|271954|273488|273710|273802|273802|273959|273959|274840|376626|403314|403314|403324|446151|446153|468907|468910|468910|480541|481141|489693|493619|513477|533164|533170|533194|533194|548858|548862|548869|548875|548876|548878|548879|548881|548884|548896|548906|548908|548924|548932|548935|548936|548940|548945|548952|549195|549196|549197|549199|549203|549204|549206|549368|549369|549370|549371|549372|549373|549374|549375|549376|549377|549378|570859|570868|577811|648189|648194|681847|684836|689107|742004|788929|847769|847771|979989|979990|979991", + "text": "Limb-girdle muscular dystrophy-dystroglycanopathy, type C5" + }, + { + "baseId": "19259|19260|19260|19272|19273|102006|125788|134502|243357|263007|266484|273802|273959|403314|468910|481141|533194|906272", + "text": "Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5" + }, + { + "baseId": "19260|19262|40244|75124|75128|428699", + "text": "Muscular dystrophy-dystroglycanopathy" + }, + { + "baseId": "19260|23317|23318|56173|192866|198685|360828|453359|489500|553132|614646|965282", + "text": "Limb-girdle muscular dystrophy" + }, + { + "baseId": "19272", + "text": "FKRP-Related Disorder" + }, + { + "baseId": "19275|19276|19277|361835|508753", + "text": "Amelogenesis imperfecta - hypoplastic autosomal dominant - local" + }, + { + "baseId": "19277|481537", + "text": "Amelogenesis imperfecta, type IC" + }, + { + "baseId": "19278|19278|19280|19281|34561|34562|142275|211896|211898|265218|265218|333825|333829|333835|333836|333838|333839|333841|333848|333865|333866|333868|333871|333872|333874|333876|333881|333883|333884|333893|333895|333899|333900|333902|333904|333909|333911|333916|333917|333919|333923|343806|343809|343811|343813|343815|343819|343822|343824|343826|343831|343837|343838|343840|343841|343843|343845|343846|343851|343852|343854|343856|343860|343864|343865|343868|343869|343874|343876|343877|349091|349092|349095|349097|349100|349102|349103|349105|349109|349110|349113|349114|349117|349121|349123|349125|349127|349135|349136|349139|349142|349143|349146|349149|349150|349153|349154|349155|349159|349160|349162|349163|349165|349170|349171|349173|349175|349177|349180|349181|349183|349185|350019|350020|350023|350024|350028|350029|350031|350032|350033|350036|350037|350039|350042|350045|350046|350048|350050|350052|350054|350057|350058|350061|350062|350064|350067|350071|350072|350077|350078|350080|350081|350083|350088|350090|350093|350095|350096|350099|353496|353497|358620|377761|446146|470325|533159|540607|540608|540609|540610|540611|540612|540613|548812|548813|548814|548816|548825|548827|548828|548833|548840|548843|548844|548848|548851|548853|548859|548863|548870|548872|549179|549183|549192|549364|549365|549366|549367|576185|611904|648177|648178|741988|772751|772752|772752|772753|772755|786231|786233|786234|798756|821264|821265|882155|882156|882157|882158|882159|882160|882161|882162|882163|882164|882165|882166|882167|882168|882169|882170|882171|882172|882173|882174|882175|882176|882177|882178|882179|882180|882181|882182|882183|882184|882185|882186|882187|882188|882189|882190|882191|882192|882193|882194|882195|882196|882197|882198|882199|882200|882201|882202|882203|882204|882205|882206|882207|882208|882209|882210|882211|882212|882213|882214|882215|882216|882217|882218|882219|882220|882221|882222|882223|882224|906325|941234|950822|958658|979987|979988", + "text": "3-Methylglutaconic aciduria type 3" + }, + { + "baseId": "19278|19279|19280|19280|34561|142275|211898|227093|265218|265218|333825|333829|333835|333836|333838|333839|333841|333848|333865|333866|333871|333872|333876|333883|333884|333893|333895|333899|333900|333902|333909|333911|333916|333917|333919|333923|343806|343809|343811|343815|343819|343822|343824|343826|343831|343838|343841|343843|343845|343846|343851|343852|343854|343856|343860|343864|343868|343869|343877|349092|349095|349097|349100|349102|349103|349109|349110|349113|349114|349117|349136|349139|349142|349146|349149|349150|349153|349154|349155|349159|349160|349162|349163|349170|349171|349173|349175|349177|349180|349181|349183|349185|350019|350020|350023|350024|350028|350029|350031|350032|350033|350036|350037|350039|350045|350046|350048|350050|350052|350054|350057|350058|350061|350062|350064|350067|350071|350072|350078|350080|350081|350083|350088|350090|350095|350096|350099|353497|377761|446146|470325|533159|576185|648177|648178|741988|772751|772752|772753|772755|786231|786233|786234|821264|821265|882155|882156|882157|882158|882159|882160|882161|882162|882163|882164|882165|882166|882167|882168|882169|882170|882171|882172|882173|882174|882175|882176|882177|882178|882179|882180|882181|882182|882183|882184|882185|882186|882187|882188|882189|882190|882191|882192|882193|882194|882195|882196|882197|882198|882199|882200|882201|882202|882203|882204|882205|882206|882207|882208|882209|882210|882211|882212|882213|882214|882215|882216|882217|882218|882219|882220|882221|882222|882223|882224|941234|950822|958658", + "text": "Optic atrophy 3" + }, + { + "baseId": "19282|19283|179619", + "text": "Cardiomyopathy, hypertrophic, midventricular, digenic" + }, + { + "baseId": "19282|19283|23318|23647|27450|28466|28999|29103|29126|29127|29128|29129|29130|29131|29132|29133|29134|29135|29136|29137|29138|29139|29140|29141|29142|29143|29144|29145|29146|29157|29158|29159|29161|29162|29163|29164|29165|29168|39413|40426|40548|44315|45289|45303|45304|45312|45314|45316|45317|45929|49082|51698|51707|51710|51780|51802|51835|51839|51851|51986|51987|51988|51989|51991|51993|51999|52008|52010|52018|52023|52032|52033|52034|52038|52039|52043|52045|52055|52059|52064|52066|52070|52071|52083|52086|52092|52108|52111|52112|52114|52115|52116|52118|52122|52123|52126|52127|52140|52147|52150|52151|52153|52163|52165|52168|52171|52176|52177|52182|52185|52190|52194|52197|52202|52207|52208|52209|52214|52217|52226|52242|52243|52252|52254|52261|52262|52265|52270|52271|52273|52276|52280|52286|52287|52301|52528|52531|52537|52545|52616|52845|53636|53641|53641|53680|53874|54898|55681|55682|55683|55684|55685|55687|55688|55691|55692|55694|142081|142083|142090|142091|142094|171136|171142|171163|171164|171165|172355|172397|174775|175146|175175|175443|175446|175448|175452|175458|175460|175481|175490|175513|175516|175577|175586|175587|175588|175606|175607|175615|175617|175619|175624|175630|175631|175655|175695|176226|176229|176230|176232|176348|176349|176350|176351|176352|176354|176356|178472|178672|179278|179466|179471|179522|179525|179598|179623|179672|179680|179708|186460|186481|189930|189947|190012|190017|190018|190101|190102|190103|190104|198096|198478|198520|198522|198524|198525|205175|213631|214012|214122|214123|214124|214125|214126|214127|214128|214129|214130|214131|214132|214133|214134|214135|214136|214138|214483|214486|214487|214488|214489|214490|214491|214492|214493|214494|214495|223685|241811|243575|243576|254932|258801|258803|258808|263860|266688|272349|320364|320370|320374|320377|320379|328975|328980|328992|328994|328997|329003|335628|335630|335631|335634|335643|335644|335647|335648|337435|337446|337452|337457|337458|337463|337467|337469|337478|337486|360038|360088|361876|398259|400159|403604|403612|403619|403662|403664|403667|404165|404169|404172|404173|409095|415678|422313|426055|463977|470308|470311|470312|470862|470864|471372|471376|485931|485932|485933|485935|485936|485938|504491|508156|508933|510268|528386|528396|528424|533468|533512|533525|534030|534037|539467|551788|565835|567977|571164|573467|573472|575078|575079|575080|575081|576065|623074|624478|626453|626454|626455|626456|626457|626458|626459|648590|648591|648592|648593|648594|648595|648596|648597|648598|648599|648600|648601|656238|679481|688269|689193|757415|776767|791394|791395|791478|800171|841243|841286|848266|848267|848268|848269|848270|848271|848272|848273|848274|848275|848276|848277|851989|871732|871733|871734|871735|871736|871737|871738|871739|872363|872364|872365|905949|914996|919908|929151|938927|938928|938929|951025|951026|951027|951028|951029|960314|961601|966402|966409|966440|966452|966455|966456|966457|966459|966460|966461|966467|966468|966470|966471|966478|966491|966492|966494|966504|970545", + "text": "Familial hypertrophic cardiomyopathy 1" + }, + { + "baseId": "19284|19285|20242|20739|20740|20741", + "text": "Esophageal squamous cell carcinoma, somatic" + }, + { + "baseId": "19286|19287|19288|19289|19290|19291|178392|178393|215558|331435|331439|331440|331444|331446|331448|331450|331451|331456|331472|331473|331478|331480|331481|331483|331485|331486|331493|331494|331496|331502|331505|331509|331515|331519|331522|331525|331527|331533|331541|331545|331546|331548|331549|331558|331560|331568|331569|331572|331576|331586|331589|331591|331594|331601|331611|331614|331626|341750|341751|341756|341757|341760|341761|341763|341765|341767|341777|341780|341782|341785|341789|341792|341796|341798|341800|341802|341804|341806|341811|341812|341813|341822|341823|341824|341826|341828|341833|341837|341838|341841|341844|341851|341861|341869|341870|341873|341874|341891|347119|347120|347122|347124|347126|347127|347130|347135|347136|347137|347140|347141|347142|347149|347150|347154|347158|347159|347160|347163|347164|347171|347174|347181|347182|347183|347185|347187|347189|347190|347195|347196|347197|347200|347208|347215|347218|347228|347229|347237|347240|348442|348447|348449|348450|348461|348462|348471|348472|348478|348483|348484|348487|348488|348496|348503|348511|348519|348521|348523|348524|348528|348529|348535|348538|348539|348540|348543|348549|348556|348559|348560|348568|348570|481241|481242|537308|585907|611896|613109|620622|620899|654865|715996|715997|727741|727742|741395|741397|756475|780167|785942|791865|791866|879220|879221|879222|879223|879224|879225|879226|879227|879228|879229|879230|879231|879232|879233|879234|879235|879236|879237|879238|879239|879240|879241|879242|879243|879244|879245|879246|879247|879248|879249|879250|879251|879252|879253|879254|879255|879256|879257|879258|879259|879260|879261|879262|879263|879264|879265|879266|879267|879268|879269|879270|879271|879272|879273|879274|879275|879276|879277|879278|879279|879280|879281|879282|879283|879284|879285|879286|879287|879288|879289|879290|879291|879292|879293|879294|879295|879296|879297|879298|879299|879300|879301|879302|879303|879304|879305|879306|879307|879308|879309|879310|879311|879312|879313|879314|879315|879316|879317|879318|879319|879320|879321|879322|879323|879324|879325|879326|879327|879328|879329|879330|879331|879332|879333|879334|879335|879336|879337|879338|879339|879340|879341|879342|879343|879344|879345|879346|879347|879348|879349|879350|879351|880660|880661|880662|880663|880664|880665|962193|974503|974504|980962", + "text": "Congenital microvillous atrophy" + }, + { + "baseId": "19292|20199|23407|27292|27427|29711|29712", + "text": "Asthma, susceptibility to" + }, + { + "baseId": "19293|19294|19295|19296|19297|19298|19299|19300|19301|19303|19304|19305|19306|76523|76524|76525|76526|76733|76735|76736|76738|76739|76740|76741|76742|76743|76744|76745|76746|76747|76748|76749|76750|76752|76755|76756|76758|76759|76764|76769|76771|76772|76773|76774|76775|76776|76777|76778|76779|76781|76786|76789|76790|76793|76794|76799|76802|76803|76804|76806|76807|76810|76811|76815|76816|76818|76837|76907|134330|190289|193449|194857|196200|250575|264076|266807|267028|268413|268508|270560|271443|271550|271552|271888|272164|272165|272710|274057|275496|284710|284717|284718|284723|284728|285397|285398|285399|285400|285401|287615|287629|287853|287856|287857|287858|287861|362172|440654|443164|489454|489519|489781|489818|490819|491794|491863|491889|491939|492252|492582|493480|493693|493930|512893|517933|541762|541766|541767|541780|541783|541794|541831|541832|541838|541841|541851|541855|541856|541871|541874|541876|541879|541883|541885|541890|541912|541915|541917|541924|541926|541927|541937|541940|541942|541945|541947|541960|557931|560932|576644|576645|587401|587408|588692|588777|620062|620063|629466|629467|708041|708042|733169|733170|733171|747296|747297|747298|747299|747300|762930|762931|762934|762935|762936|774666|781177|781178|781179|787264|790197|790198|790199|805285|819125|825743|825744|883751|883752|883753|883754|883755|883756|883757|883758|883759|883760|887274|931152|931153|952937|952938|952939|959628|959629|971735|971736|971737|971738|971739|971740|971741|971742|977685|977686", + "text": "Cholestanol storage disease" + }, + { + "baseId": "19307|29110|188960|624151", + "text": "Griscelli syndrome type 3" + }, + { + "baseId": "19308|101915|135774|135777|135780|194492|195408|195409|265350|270143|329814|329815|329819|345823|345826|345833|345835|345837|347209|347211|347217|375708|430007|506407|588226|679801|679831|715702|878411|878412|878413|878414|878415|878416|878417|878418", + "text": "Amish lethal microcephaly" + }, + { + "baseId": "19309|226953|614420|614421|816334", + "text": "Ige responsiveness, atopic" + }, + { + "baseId": "19310|19311|19313|19314|39543|101215|136235|150178|150179|150221|280475|280494|280886|280892|280898|280899|280900|280904|280905|280910|282237|282239|282441|282442|282443|282444|282451|732441|732444|864347|864348|864349|864350|864351|864352|864353|864354|864355|864356|864357|864358|864359|864360|864361|864362|864363|864364", + "text": "Mandibuloacral dysplasia with type B lipodystrophy" + }, + { + "baseId": "19310|19315|29529|29539|39541|39542|45141|45142|49843|49844|57201|57207|57208|57212|57226|57227|57235|57242|57250|57252|77677|77776|101215|136235|150178|150179|150221|172488|172489|196270|196461|196463|224183|226437|238151|244232|276591|276601|276609|276610|276614|276876|277430|277432|277433|277434|277441|277445|277446|277447|277453|277456|277461|277537|280475|280484|280486|280494|280881|280882|280886|280892|280898|280899|280900|280904|280905|280910|282234|282235|282236|282237|282239|282440|282441|282442|282443|282444|282451|353062|509122|556620|576413|626918|685575|732441|732444|789965|862419|862420|862421|862422|862423|864347|864348|864349|864350|864351|864352|864353|864354|864355|864356|864357|864358|864359|864360|864361|864362|864363|864364|864995", + "text": "Lethal tight skin contracture syndrome" + }, + { + "baseId": "19310", + "text": "ZMPSTE24-Related Disorders" + }, + { + "baseId": "19316", + "text": "Kawasaki disease, susceptibility to" + }, + { + "baseId": "19318|19319|19320|19321|38855|38856|237210|255154|322262|322264|331571|331574|331575|338504|338505|338512|340237|340242|340262|340269|429645|464956|464973|643100|643101|688399|820686|842231|873254|873255|873256|873257|873258|876492", + "text": "Dyskeratosis congenita autosomal recessive 1" + }, + { + "baseId": "19319|19320|19321|961946", + "text": "Dyskeratosis congenita, autosomal recessive 2" + }, + { + "baseId": "19322|19323|19325|19326|213451|222806|333152|403292|880308|880309|880310|905732", + "text": "Hemochromatosis type 2B" + }, + { + "baseId": "19325", + "text": "Hemochromatosis, type 2a, modifier of" + }, + { + "baseId": "19327|19327|19328|19329|19330|19331|19332|19332|19334|19334|19337|19340|19341|19345|19350|19353|19357|19358|19366|19367|19373|33922|33924|99352|99352|99353|99356|99356|99358|99360|99362|99363|99364|265824|404945|626896|679732|682848|801581|801582|801583|801584|801585|801586|801587", + "text": "Acute neuronopathic Gaucher's disease" + }, + { + "baseId": "19327|19327|19329|19330|19331|19331|19332|19332|19333|19334|19334|19337|19340|19341|19350|19353|19353|19362|19366|19366|19367|19369|19373|33922|33924|99352|99353|99356|99358|99360|99362|99363|99364|265824|362045|404945|626896|682848|801581|801582|801583|801584|801585|801586|801587", + "text": "Subacute neuronopathic Gaucher's disease" + }, + { + "baseId": "19327|19327|19329|19329|19330|19330|19331|19331|19332|19332|19333|19334|19334|19335|19337|19337|19339|19340|19341|19341|19344|19345|19346|19347|19348|19349|19350|19350|19352|19353|19353|19354|19355|19356|19359|19360|19363|19365|19366|19366|19367|19369|19371|19373|33922|33922|33924|99352|99352|99353|99355|99356|99356|99358|99360|99362|99363|99364|190774|237954|237955|237956|237958|237959|237960|265824|404945|439574|439575|495063|513234|612077|622301|626896|677160|682848|789853|801581|801582|801583|801584|801585|801586|801587|857349|906180|906182|906183|920599|920600|920601", + "text": "Gaucher's disease, type 1" + }, + { + "baseId": "19327|19329", + "text": "Dementia, Lewy body, susceptibility to" + }, + { + "baseId": "19327|19329|19330|19331|19332|19333|19334|19335|19337|19338|19340|19341|19345|19348|19350|19353|19357|19360|19365|19366|19367|19368|19373|33922|33924|33925|38432|47036|76478|99351|99352|99353|99354|99355|99356|99358|99360|99362|99363|99364|190774|194862|194863|195917|227188|237954|249411|265209|314491|404945|486012|486837|486838|486840|486844|486866|486867|496141|513234|549499|621056|621057|621058|621059|621060|621061|621703|696140|816426|915011|915012|916793|920479|920480|963246|972537|975763|977443|977444|977445|977446|977447|977448|977449|978515|983940", + "text": "Gaucher disease" + }, + { + "baseId": "19327", + "text": "Hypomimic face" + }, + { + "baseId": "19327|203232|260118|513946|613536|613536|613537|613537|800991|801159", + "text": "Movement disorder" + }, + { + "baseId": "19327|264319|360941", + "text": "Thoracolumbar scoliosis" + }, + { + "baseId": "19327|38432|38432|133431|360846|360868|360942|361108|362597|362598|476220|486013|513955|514103", + "text": "Parkinsonism" + }, + { + "baseId": "19327|486013", + "text": "Resting tremor" + }, + { + "baseId": "19327|19329|19330|19331|19332|19332|19334|19337|19341|19350|19353|19366|19367|19373|33922|33924|99352|99353|99356|99358|99360|99363|99364|265824|404945|626896|682848|801581|801582|801583|801584|801585|801586|801587", + "text": "Gaucher disease type 3C" + }, + { + "baseId": "19327|19329|19330|19332|19342|19357|19361|19364|19365|19367|19368|19370|19372|19373|33924|99354|190774|682848|918564|918565|920127", + "text": "Gaucher disease, perinatal lethal" + }, + { + "baseId": "19329", + "text": "Susceptibility to Parkinson's Disease" + }, + { + "baseId": "19329", + "text": "Akinesia" + }, + { + "baseId": "19329|38432|360942|514103", + "text": "Rigidity" + }, + { + "baseId": "19329|94418|223765|223766|223767|223768|223769|226703|226704|226705|226706|226707|226708|226709|226710", + "text": "Parkinson disease" + }, + { + "baseId": "19380|19381|39540|287298|287301|287302|287303|287311|288014|288015|288016|288021|288035|288038|290667|290668|290700|290701|290709|290711|290714|290715|290718|290720|290725|290732|290936|290941|290944|290946|290947|290950|290951|290952|733580|747788|885474|885475|885476|885477|885478|885479|885480|885481|885482|885483|885484|887401", + "text": "Parkinson disease 13" + }, + { + "baseId": "19382|19383|19384|165840|175965|175967|176105|209355|237617|404821|442483|497248|497466|511015|550777|553314|609916|612159|614131|614134|615818|679904|802083|805825|961565", + "text": "Deafness, autosomal recessive 16" + }, + { + "baseId": "19385|19385|19386|19387|19388|19389|19390|19391|19392|19393|34380|34381|34382|34383|34384|34385|34386|34386|39537|39539|71462|140131|140131|191260|195727|205019|213112|222372|222373|222374|241848|264598|320649|320667|320668|320669|320671|329462|329463|329479|329483|329486|329487|329489|329491|336024|336042|336046|336054|336055|336058|336059|337982|337983|337987|337996|373858|374245|399673|399833|441647|445234|463293|463302|463801|463803|463808|464156|464290|464292|464298|464300|495758|528195|528201|528207|528210|528213|528546|528559|528565|528567|528569|552176|552177|566492|568098|568101|568939|572612|612099|642484|642485|642486|642487|642488|642489|642490|642491|642492|642493|642494|642495|642496|684496|688303|791410|791411|798676|816001|820625|820626|820627|841541|841542|841543|841544|841545|841546|841547|841548|871913|871914|871915|871916|871917|871918|871919|872367|927093|927094|927095|936632|936633|936634|948579|948580|948581|948582|948583|957231|957232|960804|963167|970144", + "text": "Hereditary spastic paraplegia 3A" + }, + { + "baseId": "19385|34386|39536|39537|140131|625307|626229|919529|919530|964416", + "text": "Hereditary sensory neuropathy type 1D" + }, + { + "baseId": "19394|19395|19396|165954|227498|238219|238220|238221|279495|279504|279505|279510|279531|279537|279541|279546|279550|279552|279556|279558|279568|279569|279570|279580|279582|279592|279593|279602|279603|279604|279609|279763|279764|279765|279770|279771|279791|279807|279811|279821|279834|279836|279837|279838|279839|279840|279842|279846|279847|279849|279850|279854|279856|279857|279867|281073|281078|281081|281082|281084|281090|281099|281102|281118|281122|281123|281125|281127|281141|281142|281175|281177|281178|281181|281182|281187|281189|281190|281191|281193|281194|281195|281196|281197|281201|281205|281207|281213|281216|281217|281221|281222|281223|281224|281226|281233|281234|281237|281241|281249|390977|390996|390999|391001|391100|391102|391112|391112|447548|447554|447697|447699|447711|515504|515623|557177|627433|627434|627435|650687|683313|683314|685637|689644|689645|823525|823526|823527|823528|823529|823530|823531|823532|850965|863875|863876|863877|863878|863879|863880|863881|863882|863883|863884|863885|863886|863887|863888|863889|863890|863891|863892|863893|863894|863895|863896|863897|863898|863899|863900|863901|863902|863903|863904|863905|863906|863907|863908|863909|863910|863911|863912|863913|921863|921864|921865|921866|921867|930346|930347|930348|941779|941780|941781", + "text": "Erythrocytosis, familial, 3" + }, + { + "baseId": "19397|19398|19399|19400|19401|19402|19403|19404|19405|195381|438125|491867|513144|551588|551589|590356|613154|800157|818341|919893|980391", + "text": "Retinitis pigmentosa 11" + }, + { + "baseId": "19406|19408|39533|39534|39535|268860|268895|280816|280824|280827|280828|280836|280840|280842|280848|280849|280854|280866|280869|280870|280871|281322|281334|281335|281336|281337|281338|281347|281349|281350|281352|281353|281354|281362|281377|281388|281389|281391|281398|281400|281401|282590|282592|282595|282596|282601|282615|282616|282617|282618|282619|282622|282623|282624|282880|282881|282895|282901|282902|282903|282922|282923|282926|282927|282928|552047|620724|719022|798475|798476|816351|816352|864592|864593|864594|864595|864596|864597|864598|864599|864600|864601|864602|864603|864604|864605|864606|864607|864608|864609|864610|864611|864612|864613|864614|864615|864616|864617|864618|864619|864620|864621", + "text": "Desmosterolosis" + }, + { + "baseId": "19409|19410|19410|19411|19412|19413|19414|19415|19416|19417|19418|19418|103704|103800|103801|103802|103803|103804|103805|103806|103807|103808|103809|103810|103811|103812|103813|103814|103815|103816|103817|103818|103819|103820|103821|103822|103823|103824|103825|103826|103827|103828|103829|103830|103831|103832|103833|103834|103835|103836|103837|103838|103839|103840|103841|103842|103843|103844|103845|103846|103847|103848|103849|103850|103851|103852|103853|103854|103855|103856|103857|103858|103859|103860|103861|103862|103863|103864|103865|103866|103867|103868|103869|103870|103871|103872|103873|103874|103875|103876|103877|103878|103879|103880|103881|103882|103883|103884|103885|108769|137003|142229|142231|142233|142235|142236|142237|215206|231470|231483|231485|231490|231491|231492|231496|244259|249856|249857|249858|280193|280195|280198|280201|280204|280207|280211|280212|280213|280565|280566|280586|280587|280588|280589|280590|280591|281832|281854|281864|281865|281887|281894|281895|281898|281902|281982|281994|281997|282002|282003|282010|282011|282013|282019|515874|557011|557277|614215|690575|718855|761838|789957|816302|864187|864188|864189|864190|864191|864192|864193|864194|864195|864196|864197|864198|864199|864200|864201|864202|864203|864204|864205|864206|864207|865170", + "text": "Familial cold autoinflammatory syndrome 1" + }, + { + "baseId": "19409|19410|19412|19413|19416|19418|80059|103800|103801|103810|103813|103816|103823|103826|103831|103832|103834|103836|103840|103858|103877|103878|103881|103882|103884|142229|142230|142232|142233|142234|142236|142237|215206|231472|231476|231477|231480|231483|231484|231485|231486|231488|231491|231492|231495|231496|244259|244260|244262|249858|280212|281887|281894|281895|282010|282011|365069|365071|421234|439865|442797|442800|447722|447957|448043|448073|448075|448077|448078|498378|515752|515802|515804|515806|515809|515845|515874|557000|557002|557008|557011|557236|557238|557277|558467|609420|627704|627705|627706|627707|627708|627709|627710|627711|627712|627713|627714|627715|627716|627717|627718|627719|650631|650712|690572|690573|690574|707270|718854|718855|732334|732335|746376|746380|746381|746384|761834|761835|780644|818957|818958|823834|823835|823836|823837|823838|823839|823840|823841|823842|823843|823844|823845|823846|851293|921969|921970|921971|921972|921973|921974|921975|930440|930441|930442|930443|930444|930445|930446|930447|941898|941899|941900|941901|941902|941903|952375|952376", + "text": "Cryopyrin associated periodic syndrome" + }, + { + "baseId": "19410|103783|257201|257202|257203|257204|257206|257207|281855|281901|282014|282015|282018|344075|344095|349305|349310|349317|349328|350305|350308|350336|353519", + "text": "Familial cold autoinflammatory syndrome" + }, + { + "baseId": "19410|19412|19413|19414|19416|19418|103800|103801|103810|103821|103823|103832|103857|103878|103881|103882|108769|142229|142231|142233|142235|142236|142237|215206|231470|231483|231485|231490|231491|231492|231496|244259|249856|249857|249858|280193|280195|280198|280201|280204|280207|280211|280212|280213|280565|280566|280586|280587|280588|280589|280590|280591|281832|281854|281855|281864|281865|281887|281894|281895|281898|281901|281902|281982|281994|281997|282002|282003|282010|282011|282013|282014|282015|282018|282019|515874|557011|557277|614215|690575|718855|761838|816302|864187|864188|864189|864190|864191|864192|864193|864194|864195|864196|864197|864198|864199|864200|864201|864202|864203|864204|864205|864206|864207|865170", + "text": "Familial amyloid nephropathy with urticaria AND deafness" + }, + { + "baseId": "19410|19415|19416|19417|19418|103800|103810|103821|103823|103832|103857|103861|103878|103881|103882|108769|142229|142231|142233|142235|142236|142237|215206|231470|231483|231485|231490|231490|231491|231492|231496|244259|249856|249857|249858|280193|280195|280198|280201|280204|280207|280211|280212|280213|280565|280566|280586|280587|280588|280589|280590|280591|281832|281854|281855|281864|281865|281887|281894|281895|281898|281901|281902|281982|281994|281997|282002|282003|282010|282011|282013|282014|282015|282018|282019|515874|557011|557277|614215|690575|718855|761838|816302|864187|864188|864189|864190|864191|864192|864193|864194|864195|864196|864197|864198|864199|864200|864201|864202|864203|864204|864205|864206|864207|865170", + "text": "Chronic infantile neurological, cutaneous and articular syndrome" + }, + { + "baseId": "19410|19418|231490|439865|557011", + "text": "Deafness, autosomal dominant 34, with or without inflammation" + }, + { + "baseId": "19418|231490|486795|557011", + "text": "Keratitis fugax hereditaria" + }, + { + "baseId": "19419|19420|19421|19422|19423|19424|19425|19426|19427|55710|55711|55714|55715|55717|55718|172589|227215|228487|228489|228494|228496|275045|280879|280880|280883|280884|280888|281402|281410|282626|282632|282929|282932|282933|282935|496211|581790|620006|622681|654213|746571|864622|864623|864624|864625|864626|864627|864628|864629|864630|980303", + "text": "Bartter disease type 4a" + }, + { + "baseId": "19420|19423|55710|55718|194526|227215|228487|228489|228495|353106|587011|654213|654215|654216|719024|732517|746568|746569|746570|746571|746572|762016|780738|977550|977551|977552", + "text": "Bartter syndrome" + }, + { + "baseId": "19427|19428", + "text": "Sensorineural deafness with mild renal dysfunction" + }, + { + "baseId": "19429|27356|27357|31303|508794|535738", + "text": "Hemangioma, capillary infantile" + }, + { + "baseId": "19430|469343|469352|470365|470884|533503|533504|533576|533580|533588|534067|534076|571196|572880|573493|575090|648634|648635|648636|648637|648638|648639|648640|653124|653646|716914|742358|742359|757469|757471|773078|773079|773080|773081|773084|778407|786358|786359|821318|848309|848310|848311|848312|848313|848314|848315|848316|848317|917736|919911|920415|929164|938944|938945|938946|940504|951043|951044|951045|958808|958809|958810|958811|958812|960315|965779|965780", + "text": "Autoimmune disease, syndromic multisystem" + }, + { + "baseId": "19431|19432|19433|19434|19435|19436|19437|19438|57309|57310|57311|57312|173760|186675|186676|229031|229032|289133|289138|289139|289140|289141|289916|289917|289931|289936|289938|293002|293007|293010|293341|293352|293371|293380|293381|293406|293415|293419|357287|357288|357289|493293|496337|542823|542827|542829|542832|542837|542840|543017|543022|543027|543029|543031|543033|543075|543076|543079|543082|543099|543103|543106|543111|543116|590271|622134|626415|733873|790343|800352|800489|800490|827631|888208|888209|888210|888211|888212|888213|888214|888215|888216|888217|888218|888219|888220|888221|888222|888223|888224|888225|888226|888227|891594|906128", + "text": "Usher Syndrome, Type III" + }, + { + "baseId": "19434|19438|57311|57312|57313|173760|186675|357287|493293|496337|733873|781597|827625|827629|977809|977810|977811|977812|977813|980319", + "text": "Usher syndrome, type 3A" + }, + { + "baseId": "19439|19440|314660|314664|314667|314668|314671|314672|314674|314677|314678|314688|314690|321342|321354|321355|321357|321358|321361|321362|321365|321366|321377|321379|327487|327491|327493|327494|327495|327500|327503|327516|328540|328554|328555|328557|328560|328561|328563|328569|328592|497248|552286|701895|701896|724617|868290|868291|868292|868293|868294|868295|868296|868297|868298|868299|868300|868301|868302|868303|868304|868305|868306|868307|868308|868309|868310|868311|868312|868313|868673", + "text": "Spermatogenic failure 7" + }, + { + "baseId": "19441|371260|906171|967101", + "text": "Familial hypertriglyceridemia" + }, + { + "baseId": "19443|983644", + "text": "Familial type 5 hyperlipoproteinemia" + }, + { + "baseId": "19444|19453|106525|181372|181373|227231|238590|238592|238595|238595|238596|250493|250494|250497|250501|250502|250503|250505|250506|250507|266843|283960|283962|283963|283971|283972|283978|284685|284693|284695|284696|284698|284699|284725|284727|284739|284742|286627|286630|286631|286635|286636|286642|286644|287049|287060|287069|287071|287072|287088|287102|287103|287104|360832|366307|392274|450379|450392|450513|517524|517535|517610|517618|517632|560541|629294|682213|683468|683470|686110|686116|686117|689703|747169|759187|792725|792726|792726|861329|861330|883310|883311|883312|883313|883314|883315|883316|883317|883318|883319|883320|883321|883322|883323|883324|883325|883326|883327|883328|883329|883330|883331|883332|883333|883334|883335|883336|883337|883338|883339|883340|883341|883342|883343|883344|883345|883346|883347|883348|887238|887239|887240|961835|971374", + "text": "Amyotrophic lateral sclerosis type 2" + }, + { + "baseId": "19445|19446|19453|19455|51303|238595|517535|560541|682215|792725|792726|798495", + "text": "Juvenile primary lateral sclerosis" + }, + { + "baseId": "19445|19447|19448|19449|19450|19451|19452|19454|19456|51226|106525|181373|214531|214532|221136|238590|238591|238592|238593|238594|238595|238595|238596|250497|250503|250506|266843|283963|283971|283972|284698|286635|286639|287072|287103|392272|392274|392283|392458|392520|392522|392526|433360|440650|450251|450255|450378|450379|450392|450414|450422|450491|450496|450505|450506|450512|450513|517524|517526|517527|517535|517535|517610|517611|517618|517625|517632|517639|517640|557812|557814|557865|559041|559043|559045|559047|560537|560539|560541|560541|560543|629293|629294|629295|629296|629297|629298|629299|629300|629301|629302|629303|629304|629305|650938|682212|682213|682214|682216|683468|683470|683471|686108|686110|686113|686117|689700|689701|691008|691009|697251|762786|789113|792725|792726|792726|792960|792961|798496|825585|825586|825587|825588|825589|825590|825591|825592|825593|825594|825595|825596|825597|825598|825599|825600|883325|883346|922516|922517|922518|922519|922520|922521|931075|931076|931077|931078|940685|940686|942562|942563|942564|942565|952885|952886|952887|959622", + "text": "Infantile-onset ascending hereditary spastic paralysis" + }, + { + "baseId": "19457|19458|172453|442876|553249|612079|799222|972779", + "text": "Deafness, autosomal recessive 36, with or without vestibular involvement" + }, + { + "baseId": "19459|19460|19461|19462", + "text": "Deafness, without vestibular involvement, autosomal dominant" + }, + { + "baseId": "19463", + "text": "Deafness, autosomal recessive 36, without vestibular involvement" + }, + { + "baseId": "19464|19465|19466|19467|19468|19469|19470|19471|19472|140116|140117|140118|140119|169587|195446|211374|211378|211380|253509|265577|308143|308152|308156|308164|308165|318389|318390|318393|318394|318402|318856|318863|318864|318872|318874|371215|407687|414697|429011|441315|441328|441329|503372|503391|508838|549960|622509|623002|759914|901921|901922|901923|901924|901925|901926|901927|901928|901929|901930|901931|901932|901933|903389|903390|918305|966055|966057", + "text": "Ataxia-oculomotor apraxia type 1" + }, + { + "baseId": "19473|19474|103701|103702|103703|142521|142522|142523|142524|142525|142526|142528|142529|142530|142531|142533|142536|243838|243839|243841|243843|243844|244930|244931|244935|244936|244937|244938|255363|255365|255366|255367|265178|323401|323407|323408|323414|323421|333090|333092|333093|333094|333096|333097|333099|333100|333106|333110|333112|333115|333118|339914|339917|339918|339928|339932|339936|339937|339938|339947|341331|341337|341338|341339|341343|341354|341357|353330|373690|409350|415450|422047|433868|433870|433872|433875|445430|465181|465429|504979|529056|529059|529115|529117|529665|537248|566882|567286|569155|569156|569161|569604|569606|569608|573539|573540|573543|573544|609935|614401|643554|643555|643556|643557|643558|643559|643560|643561|643562|643563|652572|693746|739799|739800|754694|770353|770354|770355|776094|785031|785032|785033|789380|799820|799821|799822|799823|799824|799825|799826|799827|799828|799829|820738|842712|842713|842714|842715|842716|842717|842718|842719|842720|842721|842722|842723|842724|842725|842726|842727|842728|874193|874194|874195|874196|874197|874198|874199|876578|927427|937076|941096|949013|949014|949015|949016|949017|949018|949019|957514|957515|957516|960122|981929|981930|981931|981932", + "text": "Pyogenic arthritis-pyoderma gangrenosum-acne syndrome" + }, + { + "baseId": "19475|187259|187260|254993|439068|512941|858757", + "text": "Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome" + }, + { + "baseId": "19480|19481|19482|19482|19484|19485|19486|19486|19490|19490|19491|19494|19494|19497|34290|34291|34291|34292|34293|34294|34294|186968|186969|186969|186970|186971|186972|186973|186974|186975|186976|186976|195685|195685|196260|247620|256149|256150|256152|256152|256153|256154|256155|262353|262353|262357|268431|272491|272491|328149|328151|328158|328162|328163|328167|328168|328169|328170|328174|328176|328191|328193|328196|328201|328205|328212|328213|328215|328216|328221|328223|328224|328225|328229|328231|328240|328241|328242|328246|338029|338033|338035|338047|338047|338073|338074|338077|338079|338086|338087|338091|338095|338100|338102|338105|338107|338108|338111|338112|338114|338116|338118|338120|338123|338125|338128|344204|344207|344208|344209|344214|344218|344222|344224|344229|344229|344237|344238|344244|344246|344247|344248|344249|344250|344257|344258|344260|344262|344266|344267|345599|345600|345604|345608|345608|345609|345610|345616|345616|345619|345620|345624|345626|345627|345628|345629|345632|345633|345636|345639|345643|345644|345646|345647|345655|345657|345661|345664|345666|345668|345670|345674|345675|345683|358428|358429|358430|358431|358431|358432|358433|358434|358435|409914|467343|467996|467996|487825|487918|487918|487925|487925|508965|530976|531022|531462|531468|531468|548084|548094|548095|548103|548111|548112|548114|548115|548116|548117|548119|548123|548124|548125|548126|548127|548128|548131|548133|548141|548364|548365|548373|548385|548390|548391|548822|548823|548831|548835|548835|548841|571093|574257|590453|645825|645826|645827|652641|652939|653105|653107|653266|653356|653445|704104|715396|715400|715401|727124|727124|727125|727126|727127|727128|740704|755804|771449|771450|771453|771454|771455|771457|771459|776317|779875|785542|785545|788236|792804|792805|821040|845246|845247|845248|851717|852736|858743|858749|877276|877277|877278|877279|877280|877281|877282|877283|877284|877285|877286|877287|877288|877289|877290|877291|877292|877293|877294|877295|877296|877297|877298|877299|877300|877301|877302|877303|877304|877305|877306|877307|877308|877309|877310|877311|877312|880508|928238|928239|937900|940409|941180|949890|958092|960215|960883|972271|972272", + "text": "Nephropathic cystinosis" + }, + { + "baseId": "19482|19484|19486|19486|19488|19490|19490|19492|19493|19494|34291|34294|186969|186976|195685|195685|196260|256149|256150|256152|256152|256153|256154|256155|262353|262357|268431|272491|272491|328149|328151|328158|328162|328163|328167|328168|328169|328170|328174|328176|328191|328193|328205|328212|328213|328215|328216|328221|328223|328224|328225|328231|328240|328241|328242|328246|338029|338033|338047|338047|338073|338074|338077|338079|338086|338087|338091|338095|338102|338105|338108|338111|338112|338114|338120|338123|338125|338128|344204|344207|344208|344209|344214|344218|344222|344224|344229|344229|344237|344238|344244|344246|344247|344248|344250|344257|344258|344260|344262|344266|344267|345599|345600|345608|345608|345609|345610|345616|345616|345619|345620|345624|345626|345627|345628|345629|345632|345633|345636|345643|345644|345647|345655|345657|345661|345664|345666|345670|345674|345675|345683|358429|358431|467343|467996|487918|487918|487925|530976|531022|531462|531468|548835|571093|574257|645825|645826|645827|652641|652939|653105|653107|653266|653356|653445|704104|715396|715400|715401|727124|727124|727125|727126|727127|727128|740704|755804|771449|771450|771453|771454|771455|771457|771459|776317|779875|785542|785545|788236|792804|792805|821040|822301|845246|845247|845248|851717|852736|877276|877277|877278|877279|877280|877281|877282|877283|877284|877285|877286|877287|877288|877289|877290|877291|877292|877293|877294|877295|877296|877297|877298|877299|877300|877301|877302|877303|877304|877305|877306|877307|877308|877309|877310|877311|877312|880508|928238|928239|937900|940409|941180|949890|958092|960215|960883|972271|972272", + "text": "Ocular cystinosis" + }, + { + "baseId": "19482|19484|19486|19487|19490|19494|19495|19497|34291|34294|186969|186969|186976|195685|196260|256152|262353|262357|268431|272491|338047|344229|345608|345616|358431|467343|467996|487918|487925|530976|531022|531462|531468|548835|571093|574257|645825|645826|645827|652641|652939|653105|653107|653266|653356|653445|704104|715396|715400|715401|727124|727125|727126|727127|727128|740704|755804|771449|771450|771453|771454|771455|771457|771459|776317|779875|785542|785545|788236|792804|792805|821040|845246|845247|845248|851717|852736|928238|928239|937900|940409|941180|949890|958092|960215|960883|972271|972272", + "text": "Juvenile nephropathic cystinosis" + }, + { + "baseId": "19482|19486|19494|19497|34290|34291|34292|186969|186973|186974|186976|195685|247620|247621|247622|247623|247624|256149|256150|256152|256153|262353|262354|262355|262357|268431|272491|328196|328201|328229|338035|338047|338100|338107|338116|338118|344229|344249|345604|345608|345616|345639|345646|345668|487825|487918|487925|497290|548133|571093|621563|715396|715401|727125|727127|727128|740704|755805|771453|776317|779875|785546|845248|877280|979889|979890|979891|979892|979893|979894|979895|979896|979897|979898", + "text": "Cystinosis" + }, + { + "baseId": "19486|19496|19497", + "text": "Cystinosis, atypical nephropathic" + }, + { + "baseId": "19498|338326|338329|338331|338336|347978|347979|351719|351720|351721|352615|433978|433979|433980|470319|470330|470332|471152|471981|534016|534331|534480|534487|534489|574144|649531|649532|649533|649534|717485|717486|729223|742945|758118|786611|821467|849387|849388|849389|849390|891366|891367|891368|891369|891843|891844|929498|929499", + "text": "Common variable immunodeficiency 4" + }, + { + "baseId": "19499|19500|19500|19500|19501|19501|19502|19502|19503|19504|39524|79734|143206|143206|187237|187237|227234|227234|259730|259731|259731|284729|284732|284737|284740|284741|284741|284751|284751|284752|284754|284754|284757|284763|284764|284769|284769|284770|285403|285417|285418|285420|285420|285421|285422|285422|285423|285427|285428|287631|287632|287635|287636|287636|287638|287639|287640|287641|287652|287862|287863|287865|287866|287872|287873|287875|287875|287876|287882|287883|287889|287891|287892|287901|287901|287902|359415|360835|366372|404757|414868|448382|450625|450631|450635|450717|450717|450724|517815|517833|517834|517936|517938|550120|550121|550122|550123|557933|559113|559115|559117|559119|560936|560938|622269|629468|629469|629470|629471|629472|629473|691029|691030|691030|691031|691032|691032|691033|697326|697327|733173|747301|747302|747303|762937|762942|762945|781181|781182|781184|781185|798498|825745|825746|825747|825748|825749|883761|883762|883763|883764|883765|883766|883767|883768|883769|883770|883771|883772|883773|883774|883775|883776|883777|887275|917809|922578|922579|931154|931155|931156|939877|942612|952940|952941|952942|952943", + "text": "Odonto-onycho-dermal dysplasia" + }, + { + "baseId": "19500|19500|19501|39524|79734|143206|187237|227234|259731|284729|284732|284737|284740|284741|284751|284752|284754|284757|284763|284764|284769|284770|285403|285417|285418|285420|285421|285422|285423|285427|285428|287631|287632|287635|287636|287638|287639|287640|287641|287652|287862|287863|287865|287866|287872|287873|287875|287876|287882|287883|287889|287891|287892|287901|287902|404757|450631|450717|691029|691030|691032|691033|697326|697327|747302|883761|883762|883763|883764|883765|883766|883767|883768|883769|883770|883771|883772|883773|883774|883775|883776|883777|887275|977687", + "text": "Schopf-Schulz-Passarge syndrome" + }, + { + "baseId": "19500|19500|19500|19501|19501|19502|19502|39524|45629|79734|143206|143206|187237|187237|227234|227234|259730|259731|284741|284741|284751|284751|284752|284754|284754|284757|284763|284764|284769|284769|284770|285417|285418|285420|285420|285421|285422|285422|285423|285427|285428|287636|287636|287638|287639|287640|287641|287652|287875|287875|287882|287883|287889|287891|287892|287901|287901|287902|359415|359415|360835|366372|404757|414868|448382|450625|450631|450635|450717|450717|450724|517815|517833|517834|517936|517938|557933|559113|559115|559117|559119|560936|560938|622269|622269|629468|629469|629470|629471|629472|629473|691029|691030|691030|691031|691032|691032|691033|697326|697327|733173|747301|747302|747303|762937|762942|762945|781181|781182|781184|781185|825745|825746|825747|825748|825749|883761|883762|883763|883764|883765|883766|883767|883768|883769|883770|883771|883772|883773|883774|883775|883776|883777|887275|917746|922578|922579|931154|931155|931156|939877|942612|952940|952941|952942|952943", + "text": "Tooth agenesis, selective, 4" + }, + { + "baseId": "19500", + "text": "WNT10A-Related Disorders" + }, + { + "baseId": "19501|20897|106750|165611|165614|165615|165619|172936|249812|249813|249814|249815|249816|250081|250082|250083|250084|259690|266292|268021|269619|279711|279718|279719|279724|279731|279733|279734|279736|280000|280002|280007|280021|280030|280048|280049|280051|280061|280062|281321|281323|281327|281330|281331|281333|281339|281345|281348|281355|281511|281513|281518|281519|281520|281521|281522|281523|281524|281529|281532|281533|281534|281537|281540|281543|282145|282146|282147|282150|282152|282182|282184|282199|283515|283516|283517|283525|283530|283531|283532|283546|283549|283550|283551|283642|283656|283657|283659|283660|283667|283675|448540|448751|515626|685832|690702|690704|690705|824675|863969|863971|863972|863973|863974|863975|863976|863977|863979|863980|863981|863982|863983|863984|863985|863986|863988|865147|865148|880790|880791|880792|880793|880794|880795|880796|880797|880798|880799|880800|880801|880802|880803|880804|880805|880806|880807|880808|880809|880810|880811|880812|880813|880814|880815|880816|880817|880818|880819|880820|880821|880822|880823|880824|880826|880827|880828|880829|880830|880831|880832|882776|882777", + "text": "Hypohidrotic ectodermal dysplasia" + }, + { + "baseId": "19501|143206|284754|287901|794111|794112|794113|800840|917747", + "text": "Reduced number of teeth" + }, + { + "baseId": "19505|614368", + "text": "Familial chronic mucocutaneous candidiasis" + }, + { + "baseId": "19505|581228", + "text": "Aspergillosis, susceptibility to" + }, + { + "baseId": "19506", + "text": "Invasive pneumococcal disease, protection against" + }, + { + "baseId": "19506|20506|29052|30165|30200|30372|32764", + "text": "Malaria, resistance to" + }, + { + "baseId": "19506|29762|32992", + "text": "Mycobacterium tuberculosis, protection against" + }, + { + "baseId": "19506", + "text": "Bacteremia, resistance to" + }, + { + "baseId": "19507|19508|19509|19510|19511|39519|137710|222400|222408|241986|321882|321890|321906|321925|331202|331209|331225|338031|338032|338048|339961|339964|339965", + "text": "Pleuropulmonary blastoma" + }, + { + "baseId": 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+ "text": "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome" + }, + { + "baseId": "19513|19514|19515|19516|903678|903679|903680", + "text": "Nanophthalmos 2" + }, + { + "baseId": "19513|19515|19517|177265|177397|177836|181184|181185|181186|181187|181188|188832|191098|191437|191707|193723|194518|195024|195432|195757|195758|205768|254020|272280|312750|312754|312755|312766|312767|312770|312772|312776|312778|312779|312783|312784|312789|312795|312796|312801|312802|312808|318744|318745|318758|318788|318789|318798|318815|318817|318818|318820|318822|318827|324842|324846|324848|324853|324854|324870|324871|324872|324877|324884|324894|324897|325705|325708|325714|325719|325720|325734|325737|325745|325753|325754|325762|325763|325768|325769|325770|325774|325782|460985|481316|481317|488632|488856|551565|567088|567095|620829|692950|701610|768261|838078|838084|838085|838086|838087|838088|838089|838090|838091|838092|838093|838094|838095|838096|838097|838098|838099|838100|838101|838102|838103|838104|851827|867200|867201|867202|867203|867204|867205|867206|867207|867208|867209|867210|867211|867212|867213|867214|867215|867216|867217|867218|868610|868611|903576|926150|935424|935425|935426|935427|935428|935429|940207|947346|947347|947348|947349|947350|947351|947352|947353|956420|956421|956422|956423|956424|959980|960749|960750", + "text": "Microphthalmia, isolated 5" + }, + { + "baseId": "19518|19519|19520|19521|19522|19523|19524|19525|19526|19527|433763|710976|799508|799509|799510|981600|981601", + "text": "Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to" + }, + { + "baseId": "19528|19529|19530|19531|19532|19533|19534|19535|19535|19536|101851|101852|101853|101854|101855|101856|101857|101859|101860|101861|101862|101863|135731|172199|172200|177193|190593|190596|191079|192524|195398|206785|206787|249861|249864|249865|249866|249877|249878|249879|263988|264017|264017|265285|265285|269858|270336|275193|280268|280270|280663|282040|282048|359257|360810|365090|365098|365180|365196|414787|414789|425359|447750|447754|447970|448054|448058|448062|448068|448072|448084|448092|448094|485992|514427|515760|515764|515765|515769|515770|515814|515857|515885|557015|557017|557019|557021|557242|557244|557246|557248|557250|557281|557283|558471|576535|583080|587529|612256|627726|627727|627728|627729|627730|627731|627732|627733|627734|627735|627736|627737|627738|627739|650633|650648|650656|650663|650732|650735|650736|650740|690578|696657|732339|732340|732341|732342|761842|780659|823849|823850|823851|823852|823853|823854|823855|823856|823857|823858|823859|823860|823861|823862|823863|823864|851295|858475|921980|921981|921982|921983|921984|921985|930452|930453|930454|930455|930456|930457|930458|930459|939808|939809|939810|939811|941904|941905|941906|941907|941908|941909|952380|952381|952382|959555|960428|963121", + "text": "Eichsfeld type congenital muscular dystrophy" + }, + { + "baseId": "19531|19535|101851|101852|101855|101857|101859|101860|101862|101863|135731|172199|191079|206785|206787|249859|249860|249865|249866|249874|249876|249877|249878|249879|249880|280264|280268|280270|280274|280276|280277|280278|280290|280295|280299|280301|280308|280311|280312|280313|280318|280319|280663|280669|280678|280683|280685|280691|280692|280694|280696|281957|281958|281959|281964|281965|281987|281989|282040|282046|282048|282050|282065|282068|282069|282072|282073|282080|282081|282088|282102|365090|365196|485992|515764|619997|620721|864232|864233|864234|864235|864236|864237|864238|864239|864240|864241|864242|864243|864244|864245|864246|864247|864248|864249|864250|864251|864252|864253|864254|864255|864256|864257|864258|864259|864260|864261|864262|864263|865173|865174", + "text": "SEPN1-Related Disorders" + }, + { + "baseId": 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+ "text": "Congenital myopathy with fiber type disproportion" + }, + { + "baseId": "19537|19538|19539|19540|19541|19542|19543|19545|206560|207211|207212|213560|251945|268642|297302|297309|299306|299309|303512|303722|303757|303761|303762|303763|361183|428412|428413|428415|511595|615949|615950|615951|620194|735068|765103|894090|894091|894092|894093|894094|894095|894096|894097|894098|894099|894100|894101|894102|894103|894104|894105|894106|894107|894108|894109|894110|894111|894112|894113|896090", + "text": "Oculocutaneous albinism type 4" + }, + { + "baseId": "19543|19544|207211|816454", + "text": "Skin/hair/eye pigmentation, variation in, 5" + }, + { + "baseId": 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+ "text": "Malignant melanoma of skin" + }, + { + "baseId": "19546|19547|19548|19549|19550|19551|19552|19553|19554|19555|19556|19558|19564|19567|39509|39510|39513|39513|39514|39515|54609|136194|141614|141616|152850|173819|173835|173968|187111|187111|195351|195994|205739|205740|211037|211038|211039|211046|211049|211053|211055|211057|211058|229181|361179|361179|361180|434047|496327|576167|611975|612145|790479|790480|798545|798546|918249|918251|970795", + "text": "Diabetes mellitus AND insipidus with optic atrophy AND deafness" + }, + { + "baseId": "19558|195995|207139|207141|207142|207144|428319", + "text": "Wolfram syndrome" + }, + { + "baseId": "19558|19566|19568|54595|54597|54598|54599|54600|54601|54603|54604|54605|54606|54607|54609|54612|54615|54616|54618|54619|54620|54622|54623|54625|54626|54627|54629|54630|101221|101222|101224|136193|136194|136195|136197|136198|141614|141616|141617|141618|141619|141620|141621|141622|141623|141624|152849|152850|173816|173818|173821|173823|173827|173832|173833|173835|173841|173842|173843|173955|173959|173964|173966|173970|173972|173974|173979|177356|195351|195995|207145|211031|211032|211034|211038|211040|211049|211051|211053|211054|211055|211056|211062|211068|211069|211070|211072|211079|211083|211086|229179|229180|229190|229193|229198|229199|229202|251553|273248|273254|293922|293925|293926|293936|293938|293945|293949|293950|293956|293961|293964|295280|295281|295296|295297|295308|295313|295314|295321|295325|295326|295327|295328|295329|295331|295337|295338|295339|299058|299059|299060|299064|299066|299074|299075|299080|299081|299082|299083|299094|299097|299098|299099|299101|299111|299113|299114|299120|299122|299130|299131|299132|299133|299134|299143|299148|299150|299157|299159|299160|380208|421492|428318|496790|500871|501018|501178|582065|620171|749032|764601|892006|892007|892008|892009|892010|892011|892012|892013|892014|892015|892016|892017|892018|892019|892020|892021|892022|892023|892024|892025|892026|892027|892028|892029|892030|892031|892032|892033|892034|892035|892036|892037|892038|892039|892040|892041|892042|892043|892044|892045|892046|892047|892048|892049|892050", + "text": "WFS1-Related Spectrum Disorders" + }, + { + "baseId": "19559|19560|19561|19562|19563|19565|19566|19568|54595|54597|54598|54600|54601|54603|54604|54605|54606|54607|54609|54612|54615|54616|54618|54619|54620|54622|54623|54625|54626|54627|54629|54630|101221|101222|101224|136193|136194|136195|136197|136198|141614|141614|141616|141617|141618|141619|141620|141621|141623|141624|152849|152850|173816|173818|173819|173821|173823|173826|173827|173832|173833|173835|173835|173841|173842|173843|173955|173959|173964|173966|173968|173970|173972|173974|173979|177356|187111|195351|195351|195994|207145|211031|211032|211034|211038|211038|211039|211046|211049|211051|211053|211053|211054|211055|211055|211058|211062|211068|211070|211072|211079|211083|211086|227272|229179|229180|229181|229193|229198|229199|229202|251553|273248|273254|293922|293925|293926|293936|293938|293945|293949|293950|293961|295280|295281|295296|295297|295308|295313|295314|295321|295325|295326|295327|295328|295329|295331|295338|299058|299059|299060|299064|299066|299074|299075|299080|299081|299082|299094|299097|299098|299099|299101|299111|299113|299114|299120|299122|299131|299132|299133|299134|299148|299150|299157|299159|299160|361179|361179|380208|428318|434047|496327|496790|500871|501018|501178|576167|582065|749032|764601|892006|892007|892008|892009|892010|892011|892012|892013|892014|892015|892016|892017|892018|892019|892020|892021|892022|892023|892024|892025|892026|892027|892028|892029|892030|892031|892032|892033|892034|892035|892036|892037|892038|892039|892040|892041|892042|892043|892044|892045|892046|892047|892048|892049|892050", + "text": "Autosomal dominant nonsyndromic deafness 6" + }, + { + "baseId": "19565|39513|39516|141614|173819|173835|173968|187111|195351|195351|195994|211038|211039|211046|211053|211055|211058|211082|229181|229205|361179|434047|496327|576167|964233", + "text": "Wolfram-like syndrome, autosomal dominant" + }, + { + "baseId": "19565", + "text": "DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss" + }, + { + "baseId": "19567", + "text": "Diabetes mellitus, noninsulin-dependent, association with" + }, + { + "baseId": "19569|678975", + "text": "Short sleep, familial natural, 1" + }, + { + "baseId": "19570|19571|19572|19573|19574|19575|19576|19577|19578|19579|19580|19581|19584|19585|133981|133982|153583|165485|222151|244659|244661|244662|244664|254224|254225|314466|314467|314468|314470|314471|321104|321112|321127|321143|321145|321146|327233|327236|327237|327238|328232|328233|328234|328239|328248|359020|359021|359022|359023|359024|359025|359026|411515|429247|503308|504268|540480|540481|540482|540483|564772|565901|612293|612354|620409|868198|868199|868200|868201", + "text": "Congenital generalized lipodystrophy type 2" + }, + { + "baseId": "19574|153583|153584|564772|919375", + "text": "Encephalopathy, progressive, with or without lipodystrophy" + }, + { + "baseId": "19582|19583|19583|564772", + "text": "Spastic paraplegia 17" + }, + { + "baseId": "19582|19583|24244|24245|24246|24247|133981|133982|141142|141142|141143|141144|141145|141146|141147|141147|165485|186076|191530|212578|213574|221697|221699|222151|224877|244499|244659|244662|244664|245262|252786|252786|252788|252790|252795|252795|254224|254225|302780|302781|302785|302795|302796|302798|306103|306109|306110|306131|306135|306149|306154|310897|310901|310902|310903|310904|310905|310906|310908|310909|311055|311072|311080|311081|311082|311085|311086|311087|311089|311090|314466|314467|314468|314470|314471|321104|321112|321127|321143|321145|321146|327233|327236|327237|327238|328232|328233|328234|328239|328248|395627|395634|395871|407124|425751|434618|457340|503308|504268|564772|565901|609035|620409|636133|683004|833570|868198|868199|868200|868201|897972|897973|897974|897975|897976|897977|897978|897979|897980|897981|897982|897983|900352", + "text": "Distal hereditary motor neuronopathy type 5" + }, + { + "baseId": "19582|19583|462063", + "text": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC" + }, + { + "baseId": "19586|19587|19588|19589|19590|19591|19595|19596|19598|19599|19600|102419|102420|190670|227411|270080|272020|274190|335385|335386|335388|335391|345210|345213|345214|345217|349946|349949|349952|350959|350963|350965|350967|404597|413598|422317|424266|424671|431003|438204|470368|471386|495744|533507|533598|534079|534087|534089|549802|571214|571220|571222|571224|571231|571232|572887|573499|575096|575097|575098|575099|575099|578574|648661|648662|648663|648664|648665|648666|648667|648668|648669|653126|653551|654901|705482|728650|742400|757516|773101|786373|791980|791981|791982|798763|798764|801198|801568|848385|848386|848387|886072|886073|886074|886075|886076|886077|886078|886079|886080|886081|886082|886083|886084|886085|886086|887459|929179|929180|929181|929182|929183|938973|938974|938975|961891|983456", + "text": "Pigmentary pallidal degeneration" + }, + { + "baseId": "19587|19592|19593|19594|19595", + "text": "Neurodegeneration with brain iron accumulation 1, atypical" + }, + { + "baseId": "19587|19595|19596|19597|19598|361063|361064|575099|578574", + "text": "Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration" + }, + { + "baseId": "19596|20219|27363|27364|27365|27366|27980|27983|33477|40114|40115|45777|133431|195704|197521|205801|238970|238971|240465|240466|241054|241055|241056|241071|241072|241073|241074|241075|241076|241088|241089|243030|243993|253993|253994|254108|254114|254115|254116|260323|280582|280601|280607|280608|281071|282349|282361|282581|282591|282593|282602|282605|283145|283148|283152|283167|283169|283881|283897|283898|283899|285648|285649|286048|286050|286052|287177|290476|307045|309204|313638|313640|313643|313646|313649|313653|314584|314587|319830|319843|325999|326005|326006|326007|326018|326983|326984|326993|353527|353547|353548|354285|357968|360843|360907|360997|361029|361030|361307|361308|361617|362504|374065|375817|393235|396428|396431|396441|396442|396709|396716|396718|396852|396857|396871|397094|397096|397099|397104|398073|398074|398123|398128|398165|398441|398449|398489|398515|398531|398534|398540|398599|402634|402690|403161|437882|437886|437889|438145|441420|444773|451410|458291|458817|459309|459320|460889|460999|461058|461138|461140|461219|461364|461373|461761|461767|461798|461800|461803|468770|468779|476220|489308|500123|512805|518563|518621|518623|523998|525905|526023|526025|526116|526169|526171|526173|526178|526222|526235|526522|526532|526534|532143|532145|532148|532242|535682|545996|546003|546273|546278|546432|546644|546650|551413|558265|558642|560940|560941|561952|562779|562784|563482|563555|565513|565531|565596|565597|565602|565604|565641|565646|567126|567127|567129|567130|567131|568510|570052|570432|570440|570443|570498|590049|610516|613533|613550|630469|630470|630471|630472|630473|630474|630475|630476|630477|637717|637718|637719|637720|637721|637722|637723|637724|637725|637781|637782|639717|639718|639719|639860|639861|639862|639863|639864|639865|639866|639867|639868|639869|639870|639871|639872|639873|639874|639875|639876|639911|639912|639913|639914|639915|639916|639917|639918|639919|639920|639921|647078|647079|647080|647081|652116|652173|652184|652327|652528|679777|679778|684048|684049|684050|684055|684225|684226|684227|684228|684232|684233|684234|684235|684240|684241|684242|684243|684244|684245|684246|684741|685283|685285|685440|687374|687376|687729|687730|687732|687733|687735|687736|687737|687738|687739|687740|687741|687742|687743|687744|687745|687753|688881|692593|692931|692976|692977|692978|692979|695502|695503|701703|701704|701705|701706|724363|724364|724367|730758|730759|737917|737919|768392|775477|775677|783973|783975|787922|800980|800984|801102|801157|801190|801191|801198|801225|801228|801256|801514|819273|820347|826971|826972|826973|826974|835500|835501|835502|835503|835567|835568|835569|837963|838186|838187|838188|838189|838190|838191|838192|838193|838194|838195|838196|838197|838198|838199|838200|838244|838245|838246|846677|846678|922911|925384|925385|926169|926170|926171|926172|926173|931567|934548|934549|934570|935383|935456|935457|943110|943111|943112|946375|955690|956380|956441|956442|956443|956444|956445|956446|958434|959985", + "text": "Dystonia" + }, + { + "baseId": "19601|19602|19603|19604|19605|19606|135767|135768|135769|135770|135771|135772|142825|142826|142827|171852|188047|193689|195428|206943|210786|210788|210789|210790|210794|210795|265738|270144|273120|274651|285141|285142|285144|285146|285147|285155|285157|285160|285162|285163|285169|285179|285184|285185|285194|285777|285787|285788|285789|285806|285808|285811|285824|285826|285829|285867|285870|288113|288115|288116|288117|288120|288122|288129|288138|288140|288142|288147|288148|288156|288157|288493|288511|288516|288535|288536|288537|288538|288540|288564|288565|288568|288573|288576|353888|353889|359347|366468|366469|413895|414875|432352|432353|432354|432355|432356|439310|448581|450398|450542|450544|450761|481464|489915|492804|517754|517755|517756|517852|517857|517859|517939|517940|517946|517948|517953|557894|557896|557898|557951|559133|561003|561005|561007|561014|561024|581749|586383|587427|622868|629507|629508|629509|629510|629511|629512|629513|629514|629515|629516|629517|629518|629519|629520|650918|697372|708086|719684|719686|733243|747390|747392|763027|763029|781229|781230|794101|795186|795187|819134|825811|825812|825813|825814|825815|825816|825817|825818|825819|825820|825821|825822|825823|825824|825825|825826|825827|884057|884058|884059|884060|884061|884062|884063|884064|884065|884066|884067|884068|884069|884070|884071|884072|884073|884074|884075|884076|884077|884078|884079|884080|884081|884082|884083|884084|884085|887306|905869|922598|922599|922600|922601|922602|922603|931167|931168|931169|931170|931171|931172|940701|942633|942634|942635|942636|942637|952963|961836", + "text": "Biotin-responsive basal ganglia disease" + }, + { + "baseId": "19607|19608|19609|19609|19610|19611|19611|19612|19614|19616|19616|19617|19618|19622|19623|39507|44418|44419|44420|102100|106472|191287|194521|205180|205603|205604|213194|214079|255821|255822|255825|255827|255828|268119|268974|269498|269500|325829|325830|325832|325833|325835|325836|325838|325839|325841|325842|325843|335449|335453|335455|335456|335458|335473|335477|341896|341899|341900|341906|341908|341911|341912|341913|341917|341921|341924|343423|343426|343434|343437|343438|343445|343446|343447|343450|358376|358376|487920|547749|547753|547754|547755|547756|547759|547762|547764|547774|547776|547779|547780|547784|547786|547788|547790|547792|547798|547802|547812|547812|548013|548015|548017|548023|548025|548027|548029|548034|548042|548043|548055|548059|548062|548065|548486|548489|548494|548500|548504|548506|548509|548514|621543|622912|644766|684610|684611|688623|688626|693901|693903|693904|770965|785309|791626|844003|844007|844010|844016|844021|844022|875519|875520|875521|875522|875523|875524|875525|875526|875527|875528|875529|875530|876680|876681|906267|906268|957811|972229|972230|972231|972232|972233|972234|972235|972236|972237|972238|979804", + "text": "Bardet-Biedl syndrome 2" + }, + { + "baseId": "19609|19615|19620|19622|20348|20357|20358", + "text": "Bardet-biedl syndrome 2/6, digenic" + }, + { + "baseId": "19609|19611|19616|19616|19617|205603|205604|358376|547812|802209|802210", + "text": "Retinitis pigmentosa 74" + }, + { + "baseId": "19612|19621", + "text": "Bardet-biedl syndrome 2/4, digenic" + }, + { + "baseId": "19613|19616|19619", + "text": "Bardet-biedl syndrome 1/2, digenic" + }, + { + "baseId": "19617", + "text": "BBS2-Related Disorders" + }, + { + "baseId": 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+ "text": "Arterial tortuosity syndrome" + }, + { + "baseId": 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+ "text": "Familial thoracic aortic aneurysm and aortic dissection" + }, + { + "baseId": "19630|19631|33465|81386|207422|264297|300838|300840|300841|303736|303739|303741|303771|303777|303779|308341|308347|308352|308452|522477|563677|625870|686905|699636|735716|896668|896669|896670|896671|896672|896673|896674|896675|896676|896677|896678|896679|896680|896681|896682|896683|896684|896685|896686|896687|896688|896689|896690|896691|896692|896693|896695|896696|896697|896698|896699|896700|896701|896702|896703|896704|896705|900250|900251|978244|978245", + "text": "Carpenter syndrome 1" + }, + { + "baseId": "19630|207422|264297|300834|300842|303735|303740|303742|303774|308425|308427|308428|308444|308452|404641|456662|635117|686905|699636|722088|750129|750130|782593|819703|832154|933391|945106|945107", + "text": "Carpenter syndrome" + }, + { + "baseId": "19632|19633|19634", + "text": "Uric acid concentration, serum, quantitative trait locus 2" + }, + { + "baseId": "19635|19636|19637|214056|214057|214058|214059|214060|293206|294736|294737|294739|294741|294742|294754|296309|296317|296324|296326|296334|296343|296344|296345|296415|296416|296417|296423|296426|296510|296520|296530|296531|300062|300063|300066|300067|300070|300072|300084|300090|300091|300096|300103|300105|300131|300132|300143|300158|300159|300168|300170|300226|620177|734341|818237|818238|889815|889816|889817|892580|892581|892582|892583|892584|892585|892586|892587|892588|892589|892590|892591|892592", + "text": "Renal hypouricemia 2" + }, + { + "baseId": "19638|19639|19640|19641|19642|19643|19644|19645|19646|88096|304460|304464|308209|313232|313325|493544|899018|899019|899020|899021|899022|899023|899024|899025", + "text": "Acroerythrokeratoderma" + }, + { + "baseId": "19647|19648|19649|19650|19651|19652|19653|33862|173758|173759|173898|173899|173900|229025|229026|229027|229028|289077|289089|289092|289095|289839|289840|289843|289844|289845|289846|289850|289867|289880|292902|292906|292912|292922|292929|292932|292933|292951|292952|292959|292963|292965|293171|293177|293182|293203|293207|293208|293211|293218|293231|293232|293233|293236|538973|543092|630987|653857|733868|733869|748071|763689|763690|763691|763693|763694|763696|781579|888161|888162|888163|888164|888165|888166|888167|888168|888169|888170|888171|888172|888173|888174|888175|888176|888177|888178|888179|888180|888181|888182|888183|888184|888185|888186|888187|888188|888189|888190|888191|891589|891590|918807", + "text": "Hermansky-Pudlak syndrome 3" + }, + { + "baseId": "19648|19652|20316|20317|20318|20319|33943|33946|33949|33951|33955|33960|39369|134289|134290|173758|173759|173898|173899|173900|174288|174289|174290|174425|174426|174427|174428|175054|175055|175056|175333|176247|176248|176249|176369|176370|176371|177772|191863|193123|205193|207283|207284|207808|207809|207810|208784|229025|229026|229027|229028|229310|231134|231135|231138|257587|264420|273299|273562|289084|289085|289087|289088|289095|289838|289843|289848|289868|289881|292906|292913|292919|292933|292937|292941|292942|292947|292949|292950|293170|293178|293180|293203|293205|293207|293208|293224|293225|293227|293229|293230|299529|299545|299547|300330|300343|300357|302067|304677|304915|304939|304940|306501|311908|311909|311911|317492|317536|317542|319582|319669|322690|322693|323554|324238|324239|324248|324259|324267|325755|325773|326797|333781|337661|337677|337681|337688|337700|339132|347224|347226|347233|347234|347236|347239|347260|347269|351231|351236|351242|351245|351251|351261|352274|352277|352279|352280|352289|352299|352302|352303|352306|352307|352308|352322|353495|353737|424687|493975|586793|615329|615330|615331|615332|615333|615412|615424|615426|615427|615429|615430|615431|615440|615441|615442|615443|615608|615726|615727|630988|678000|678001|678002|678024|701509|708640|724141|724142|730719|733868|733869|737676|737677|748070|748072|763683|763688|763690|763691|763694|763695|763696|763697|768100|781582|781583|781584|783803|783804|801534|858793|866710|866714|888176|935264|947171|977798|977799|977800|977801|977802|977803|977804|977805|977806|977807|977808|978821|978822|978823|978824|978825|978826|978827|978828|978829|978830|978831|978832|978833|978834|978835|978836|978837|978838|978839|978840|978841|978842|978843|978844|978845|978846", + "text": "Hermansky-Pudlak syndrome" + }, + { + "baseId": "19654|682341", + "text": "Lethal congenital contractural syndrome 3" + }, + { + "baseId": "19655|19656|19657|19658|19659|19660|19661|19663|19664|19667|19668|140290|140291|140292|140293|140296|140297|171767|211434|211440|211441|211443|264446|265652|309183|309185|309197|309208|309210|309213|309215|309219|309222|309226|309227|313903|313906|313908|313916|319783|319784|319785|319786|319787|319794|319796|319797|319807|319812|319819|319821|319822|320320|320327|320331|320332|320334|371494|415211|502732|620340|865239|865240|865241|865242|865243|865244|865245|865246|865247|865248|865249|865250|865251|865252|865253|865254|865255|865256|865257|865258|964338|970014", + "text": "Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3" + }, + { + "baseId": "19657|19661|19662|20121|20130|24618|24628|24656|24657|24680|24681|24686|24741|28534|28535|28544|28546|28552|34161|34162|34163|34164|34165|34166|34167|34168|34169|34170|34171|34172|39389|39417|39418|48174|48364|76573|136325|152761|165641|171703|186292|208318|211189|211701|226044|226045|226873|227162|227163|227164|227165|227166|227167|237763|237764|247444|247445|354304|414701|414702|414704|414705|414706|414707|414708|414709|414710|424202|424203|424204|424205|424206|424207|424208|424209|424210|424211|424212|424213|424215|424216|424217|424218|434403|434404|439690|439691|480531|480532|480533|480534|482269|513402|513404|540434|540435|550875|550876|677581|677722|677810|679356|679357|679358|679359|679360|679361|681059|789102|789103|801542|801543|858735|858758", + "text": "Mitochondrial diseases" + }, + { + "baseId": "19662|28541", + "text": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic" + }, + { + "baseId": "19664|28535|28538|28539|28540|28541|28546|28552|39690|76573|140290|140291|140292|140293|140296|140297|142453|142463|171767|190806|193515|202922|202938|202990|203013|203024|203030|203036|203050|211434|211440|211441|211443|242144|264446|264639|265652|309183|309185|309197|309208|309210|309213|309215|309219|309222|309226|309227|313903|313906|313908|313916|319783|319784|319785|319786|319787|319794|319796|319797|319807|319812|319819|319821|319822|320320|320327|320331|320332|320334|371494|415211|502732|576169|614404|620340|682355|682357|798690|798691|798692|865239|865240|865241|865242|865243|865244|865245|865246|865247|865248|865249|865250|865251|865252|865253|865254|865255|865256|865257|865258|971030", + "text": "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome" + }, + { + "baseId": "19665|19666|19669|34525|71365|71366|71367|140290|140291|140292|140293|140296|140297|171767|211434|211440|211441|211443|227652|227653|264446|265652|309183|309185|309197|309208|309210|309213|309215|309219|309222|309226|309227|313903|313906|313908|313916|319783|319784|319785|319786|319787|319794|319796|319797|319807|319812|319819|319821|319822|320320|320327|320331|320332|320334|371494|415211|502732|620340|626193|682322|682347|682349|682352|682354|865239|865240|865241|865242|865243|865244|865245|865246|865247|865248|865249|865250|865251|865252|865253|865254|865255|865256|865257|865258", + "text": "Infantile onset spinocerebellar ataxia" + }, + { + "baseId": "19665|23192|23193|23194|23195|23196|23197|23198|139370|140783|140784|140785|140786|190646|195028|205238|210893|210897|210898|210901|274109|287240|287241|287251|290525|290526|290528|290536|290833|290835|481358|481359|513932|513933|549898|790295|885452|885453|885454|885455|885456|885457", + "text": "Mitochondrial DNA-depletion syndrome 3, hepatocerebral" + }, + { + "baseId": "19670|168813|168814|168815|168816|168817|168818|168820|168821|168822|168823|168824|168825|168826|168827|168828|168829|168830|168831|168832|168833|168834|168835|168836|168837|168838|168839|168840|178382|205262|205764|207734|207736|214455|214456|214458|214460|225819|309449|309450|314164|314165|314166|314184|314202|314203|314208|314224|314225|314226|320056|320063|320064|320073|320075|320077|320078|320626|320627|320631|320632|429043|429044|441360|441362|459672|459858|460102|513822|513823|513824|524925|566150|611403|614602|625872|625981|638713|701169|701170|730667|737342|790940|790941|805090|815991|836604|855081|865389|865390|865391|865392|865393|865394|865395|865396|865397|865398|865399|865400|865401|865402|865403|865404|865405|868440|868441|868442|919257|970919|970920|971295|974488", + "text": "Cornelia de Lange syndrome 3" + }, + { + "baseId": "19671|19672|19673|136570|136571|136572|136573|136574|136575|136576|136577|136578|136579|136580|136581|136582|508823|508824|508825|509888|790720", + "text": "Atrial septal defect 4" + }, + { + "baseId": "19674|19675|19676|19677|76648|76649|191289|192063|192941|192942|193152|207042|207043|207044|246935|250912|250913|267615|267976|272572|275510|288698|288700|288702|288703|288704|288708|288712|288714|288715|288718|288719|288723|289423|289426|289429|289437|289446|289447|289449|289452|289453|289454|292443|292446|292455|292461|292467|292468|292492|292494|292496|292498|292616|292617|292632|292636|292648|292654|292657|292664|292669|292672|292675|292680|406114|452299|518928|519076|519081|519084|562410|562429|620102|620103|630949|630950|630951|651032|691300|691301|697823|697824|708558|730185|777328|827525|827526|827527|827528|887920|887921|887922|887923|887924|887925|887927|887928|887929|887930|887931|887932|887933|887934|887935|887936|887937|887938|887939|887940|887941|887942|887943|887944|887945|887946|887947|891563|923047|923048|931758|931759|962693|962694|970492|971370", + "text": "Cranioectodermal dysplasia 1" + }, + { + "baseId": "19678|19679|227248|288087|288114|288840|288844|288853|291776|291884|291897|291903|291904|805078", + "text": "C syndrome" + }, + { + "baseId": "19680|76969|76970|76971|76972|76973|131929|131930|131931|131932|131933|131934|256775|256776|256777|256778|332655|332657|332659|332660|342843|348179|348185|348186|348192|348193|348198|349391|349394|349395|349398|349403|438851|442042|446034|469397|532702|532705|532719|532744|539085|539086|572217|572221|572222|574876|577703|584380|589810|620629|647703|647704|647705|647706|647707|653148|716180|716181|727909|756718|760754|760802|772415|786062|786063|791894|847293|847294|847295|847296|847297|847298|847299|847300|847301|847302|847303|847304|847305|847306|879970|879971|879972|879973|879974|879975|880699|880700|880701|928850|928851|928852|928853|928854|938579|938580|938581|950672|950673|950674|950675|950676|958538|958539|958540", + "text": "Aicardi Goutieres syndrome 4" + }, + { + "baseId": "19681|19682|19683|19684|19685|19686|19687|550573", + "text": "Frontonasal dysplasia 1" + }, + { + "baseId": "19688", + "text": "Sarcoidosis 2" + }, + { + "baseId": "19689|19690|19691|19692|19693|19694|19695|19696|79134|249398|249399|276502|276504|276505|276723|276724|277277|277283|277284|277286|277376|404926|427642|447139|515091|515097|515143|552033|552034|556600|556933|558114|619953|626847|626848|626849|626850|626851|626852|626853|650659|745708|745709|761220|761221|761222|774379|786966|788725|800976|818845|822750|822751|822752|822753|822754|850732|851099|862346|862347|862348|862349|862350|862351|862352|921649|921650|930042|930043|940600|941455|941456|941457|941458|941459|941460|952073|952074|952075|952076|952077|952078|952079|952080|980435", + "text": "Kostmann syndrome" + }, + { + "baseId": "19693|19695|276504|276724|404926|427642|515097|515143|556600|556933|626848|626850|650659|745708|786966|822750|822752", + "text": "Autosomal recessive severe congenital neutropenia type 3" + }, + { + "baseId": "19697|390732|390740", + "text": "Charcot-Marie-Tooth disease, type 2A1" + }, + { + "baseId": "19698|19699|19700|19701", + "text": "Neuroblastoma 1" + }, + { + "baseId": "19699|19700|28375|28377|28378|33122|33123|33124|33125|34719|46008|46750|49881|76578|76579|83949|134845|134846|134847|150855|165504|172465|175540|180995|193949|212065|212066|212068|212069|214506|214508|214509|214512|214513|214514|214515|215257|221072|221073|221074|226759|238113|238114|238115|238116|238117|249266|256141|275615|275616|275617|275618|275620|275643|275644|275646|275647|275648|275649|275650|275651|275652|275653|275655|275661|275671|275674|275677|275679|275680|275703|275730|275733|275736|275737|275742|275743|275746|275747|275748|275750|275751|275752|275754|275755|275756|275757|275758|275759|275760|275761|275762|275763|275764|275765|275766|275767|275768|275769|275770|275771|275772|275773|275774|275775|275776|275777|275778|275779|275780|275781|275782|275783|275784|275785|275786|275787|275788|275789|275790|275791|275792|275793|275794|275795|275799|275802|275803|275804|275805|275809|275818|275823|275831|275832|275833|275834|275841|275842|275844|275848|275854|275857|275858|275861|275862|275863|275864|275865|275869|275870|275871|275873|275881|275886|275887|275888|275894|275895|275897|275900|275902|275903|275904|275906|275909|275910|275912|275918|275926|275939|275944|275945|275946|275947|275956|275960|275961|275962|275963|293429|294855|298467|298528|353022|353023|362764|362766|362767|363179|363244|363308|363309|363337|363338|363339|363361|363362|363363|363390|363464|363465|363466|363467|363468|363591|363592|390732|432394|432400|432406|432407|432409|432412|432413|432416|432422|446991|514868|535377|535378|535379|581789|611988|612000|612008|612013|626484|683231|685506|789813|789816|789817|861756|861757|861758|861759|861760|861761|861762|861763|861783|861800|861801|861802|861803|861804|861805|861806|861807|861808|861809|861810|861811|861812|861813|861814|861815|861816|861817|861818|861819|861820|861821|861822|861823|861824|861825|861826|861827|861828|861829|861830|861831|861832|861833|861834|861835|861836|861837|861838|861839|861840|861841|861842|861843|861844|861845|861846|861847|864940|864941|864942|864945|864951|864952", + "text": "Neuroblastoma" + }, + { + "baseId": "19702|19703|306064|310042|310044|310057|353846|734258|970654", + "text": "Pyruvate dehydrogenase phosphatase deficiency" + }, + { + "baseId": "19704|19704|19705|19706|19707|19708|19709|19710|19711|19712|19714|22715|22716|44662|44663|134928|140776|140777|140778|191510|208008|208009|208013|237233|248737|248738|271194|271972|309807|309809|314727|314736|318850|318855|318858|318860|318861|318862|318866|318867|318871|318873|318877|318878|318879|318886|318887|320734|320739|321387|321399|321401|321403|327235|327243|327246|327249|327251|327256|327261|327265|327267|327268|333353|333354|333361|333369|333370|333378|333382|333384|333385|333386|333387|333388|333389|333398|333403|333405|333409|333416|333417|333418|333419|335099|335103|335107|335108|335112|335113|335116|335127|335129|335130|353262|371603|407833|421785|429478|459719|459727|459730|459731|459914|460187|460187|460443|460444|513304|525013|525227|525229|525232|525329|525334|525533|525533|527458|563618|563620|564410|564513|564517|564521|566107|566202|566204|566206|572195|584029|585008|589065|614347|614347|638775|638776|638777|638778|638779|638780|638781|638782|638783|638784|638785|638786|638787|638788|638789|638790|638791|638792|638793|638794|638795|638796|638797|638798|638799|638800|638801|641541|651954|651998|652095|652125|684382|692812|692813|692814|692815|695473|701266|712282|723866|730680|730681|752041|752042|752043|752044|752045|759947|767673|767674|767675|767676|775484|783566|783568|790953|790954|820197|820198|820199|836704|836705|836706|836707|836708|836709|836710|836711|836712|836713|836714|836715|836716|836717|836718|836719|836720|836721|836722|836723|836724|836725|836726|836727|851371|865636|870669|870670|870671|870672|870673|870674|870675|870676|870677|870678|870679|870680|870681|870682|870683|870684|925767|925768|925769|925770|925771|925772|925773|934986|934987|934988|934989|934990|934991|940952|946843|946844|946845|946846|956011|956012|956013|956014|956015|956016|956017|956018|956019|956020|959930|960715|960716", + "text": "Severe combined immunodeficiency due to DCLRE1C deficiency" + }, + { + "baseId": 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+ "text": "Histiocytic medullary reticulosis" + }, + { + "baseId": "19712|321403|566204|584029|638779|767673|836712|836714", + "text": "Severe combined immunodeficiency, athabascan-type" + }, + { + "baseId": "19714|19715", + "text": "Severe combined immunodeficiency, partial" + }, + { + "baseId": "19717|19718|19719|19720|40574|205177|714450|903603", + "text": "Johanson-Blizzard syndrome" + }, + { + "baseId": "19721|19722|19723|19724|19725|19726|19727|19728|19729|45830|308735|308737|308742|308747|308750|308752|308753|308755|308759|308760|308762|308767|308769|308770|308772|308779|308781|308782|308788|308792|308801|308802|308806|308808|308812|308819|308820|308825|308827|308828|308829|308831|308842|308843|308846|313311|313315|313316|313317|313323|313331|313336|313337|313352|313354|313356|313365|313373|313382|313392|313394|313395|313396|313397|313408|313415|313429|313430|313431|313435|313439|313440|313441|313442|313444|319159|319180|319181|319183|319190|319193|319194|319220|319221|319222|319223|319225|319227|319228|319232|319233|319240|319242|319244|319249|319250|319254|319255|319772|319774|319777|319788|319792|319793|319795|319800|319811|319814|319816|319817|319818|319820|319826|319827|319836|319838|319842|319844|319851|319867|319868|319869|319875|319877|441341|441348|441349|441352|441353|441354|441355|444515|444516|508840|508841|508842|508843|539023|545359|545630|577132|577133|577135|620337|654549|684104|684105|684106|684107|684108|684109|684115|684119|685255|685256|685258|685259|685263|687527|687532|687533|687539|689955|689963|692692|783447|800756|806436|818580|902368|902369|902370|902371|902372|902373|902374|902375|902376|902377|902378|902379|902380|902381|902382|902383|902384|902385|902386|902387|902388|902389|902390|902391|902392|902393|902394|902395|902396|902397|902398|902399|902400|902401|902402|902403|902404|902405|902406|902407|902408|902409|902410|902411|902412|902413|902414|902415|902416|902417|902418|902419|902420|902421|902422|902423|902424|902425|902426|902427|902428|902429|902430|902431|902432|902433|902434|903431|903432|903433|903434|903435|903436|903437|903438|903439|903562|918310|919239", + "text": "Choreoacanthocytosis" + }, + { + "baseId": 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+ "text": "Inflammatory bowel disease 1" + }, + { + "baseId": "19730|335199|341611|341631|343103", + "text": "Crohn disease" + }, + { + "baseId": 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+ "text": "Blau syndrome" + }, + { + "baseId": "19730|19731|19732|19736|19739|103761|103777|614427|703731|919659|980481", + "text": "Yao syndrome" + }, + { + "baseId": "19736", + "text": "Autoinflammatory syndrome" + }, + { + "baseId": "19739|27427|29419|103761|703731|980481", + "text": "Psoriatic arthritis, susceptibility to" + }, + { + "baseId": "19741|277491|364543|447235|515100|515258|515260|558138|576073|626893|626894|626895|682122|682123|818846|822782|822783|822784|862397|941488", + "text": "Congenital disorder of glycosylation type 1O" + }, + { + "baseId": 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+ "text": "Microcephalic osteodysplastic primordial dwarfism type II" + }, + { + "baseId": 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+ "text": "Combined immunodeficiency due to STIM1 deficiency" + }, + { + "baseId": "19751|143249", + "text": "Plasma triglyceride level quantitative trait locus" + }, + { + "baseId": 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+ "text": "Megalencephalic leukoencephalopathy with subcortical cysts 1" + }, + { + "baseId": "19761|135059|227417|254023|254024|254025|254026|254027|254029|254030|257709|268677|313075|313076|313077|313081|313084|313085|313086|313088|313090|313099|313100|313102|313108|313109|313110|313114|319132|319134|319137|319138|319149|319150|319153|319154|319155|319160|319164|325250|325251|325263|325264|325268|325272|325282|325284|325290|325292|325293|325297|325298|326092|326098|326099|326100|326103|326109|326112|326113|326114|326125|326128|326129|326132|326140|326144|326146|348115|348135|348137|348155|348156|351818|352665|352671|539106|539107|549441|701646|706002|742985|742986|744491|752515|758133|773597|773598|773599|773604|786625|786626|786629|849396|867458|867459|867460|867461|867462|867463|867464|867465|867466|867467|867468|867469|867470|867471|867472|867473|867474|867475|867476|868615|980063|980064|980065|980066|980067", + "text": "Megalencephalic leukoencephalopathy with subcortical cysts" + }, + { + "baseId": "19763|19764|19765|39493|39494|39495|39496|101831|101833|177023|190582|190585|225848|374406|375188|375475|377584|377595|377605|377609|409644|426173|465768|466485|466490|513458|513459|567521|570302|570325|610520|644742|644743|644744|693887|693889|714963|726674|770948|785294|791620|791621|791622|919660|937483|957783|957786|957787|971051", + "text": "ALG1-CDG" + }, + { + "baseId": 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+ "text": "Congenital disorder of glycosylation" + }, + { + "baseId": 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+ "text": "Finnish congenital nephrotic syndrome" + }, + { + "baseId": 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+ "text": "Myofibrillar myopathy, ZASP-related" + }, + { + "baseId": "19767|20032|20033|20038|20039|20040|20041|33471|33473|33474|38832|39426|39429|39430|39431|39432|39433|48018|51262|52239|55766|57196|57282|77299|77309|77750|77753|131994|132005|132007|136760|169564|173493|173633|174415|176795|178263|178281|228356|354298", + "text": "Neuromuscular disease" + }, + { + "baseId": "19767|20875|48065|53432|53436|77287|77297|77310|247640|361040|682327", + "text": "Myofibrillar myopathy" + }, + { + "baseId": "19768|19769|19770|19771|19772|19773|19774|53044|53048|54696|54717|141809|198307|224404|311447|317039|317040|317041|317042|323019|323021|323607|415237|525526|525814|866450|866451|866452|866453|866454|866457|866458|866459|866460|866461|866462|868525|919299", + "text": "Dilated cardiomyopathy 1C" + }, + { + "baseId": "19770|54699", + "text": "Familial hypertrophic cardiomyopathy 24" + }, + { + "baseId": "19774", + "text": "Left ventricular noncompaction 3" + }, + { + "baseId": "19775|19776|19777|196445|242852|429997|429998", + "text": "Breast cancer, early-onset" + }, + { + "baseId": 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+ "text": "Fanconi anemia, complementation group J" + }, + { + "baseId": 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+ "text": "Neoplasm of ovary" + }, + { + "baseId": "19775|19777|137491|185230|236266|345292", + "text": "BRIP1-Related Disorders" + }, + { + "baseId": "19777|27086|132103|132191|133574|133601|263273|904886|904887|904888|904889|904890|904891|904892|904893|904894|904895|904896|904897|904898|904899|904900|904901|904902|904903|904904|904905|904906|904907", + "text": "Tracheoesophageal fistula" + }, + { + "baseId": "19778|19779|101799|101800|101801|101802|153781|213609|247057|254172|314119|314120|314127|314128|314134|314135|314139|314142|314143|314145|314146|314148|314151|320664|320670|320679|320680|320682|320683|320684|320685|320688|326683|326696|326708|326714|326715|326718|326719|326725|326729|326743|326747|326748|326757|326760|327675|327679|327680|327691|327692|327696|327697|327713|327714|327715|327717|327718|327721|327723|327725|327726|372164|372386|461331|461931|503805|513601|526216|526219|526221|526399|526404|526406|526699|526702|564634|565791|570667|614359|640059|640060|640061|640062|640063|640064|640065|640066|640067|640068|737980|768456|784004|789126|820373|838439|838440|838441|838442|838443|838444|838445|838446|838447|838448|868006|868007|868008|868009|868010|868011|868012|868013|868014|868015|868016|868017|868018|926247|926248|926249|935546|935547|935548|935549|935550|947459|947460|947461|956497|956498|956499|956500", + "text": "Leukocyte adhesion deficiency type II" + }, + { + "baseId": "19780|359719|384602|444220|622386|970874|970875|977233", + "text": "Birk-Barel syndrome" + }, + { + "baseId": "19781|227288|538990|710020", + "text": "Dimethylglycine dehydrogenase deficiency" + }, + { + "baseId": "19785|19786|590480", + "text": "Epidermodysplasia verruciformis, susceptibility to, 2" + }, + { + "baseId": "19787|19788|19789|19790|467383|467600|468423|468434|468888|469184|531860|531867|531875|531906|531959|531964|531974|531985|532237|532241|532268|569795|569797|569799|569801|569805|569816|571686|571687|572350|572362|574645|574647|574648|574649|574651|574654|614446|614447|614448|614449|646788|646789|646790|646791|646792|646793|646794|646795|646796|646797|646798|646800|646801|646802|646803|646804|646806|646808|646810|646811|646812|646814|646816|646821|646822|646823|646825|646826|646827|646828|646830|653047|653532|816343|980486", + "text": "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1" + }, + { + "baseId": "19791|788930", + "text": "Striatonigral degeneration infantile" + }, + { + "baseId": "19792|39481|141953|141954|141955|210941|210943|210945|210947|210948|289682|289688|292634|292637|292639|292875|292881|620110|759371|888052|888053|891576", + "text": "Combined oxidative phosphorylation deficiency 5" + }, + { + "baseId": 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+ "text": "Mowat-Wilson syndrome" + }, + { + "baseId": "19803", + "text": "Hirschsprung disease-mental retardation syndrome, late infantile" + }, + { + "baseId": "19809|71388|71390|861253|861254|861255|861256", + "text": "Imerslund-Gr\u00e4sbeck syndrome 2" + }, + { + "baseId": "19811", + "text": "Hypercarotenemia and vitamin a deficiency, autosomal dominant" + }, + { + "baseId": "19812|19813|19814|19815|19816|19818|19819|19820|238266|280214|280218|280219|280224|280227|280228|280234|280246|280247|280252|280254|280255|280257|280262|280592|280593|280594|280598|280602|280603|280604|280615|280619|280622|280628|280630|280636|280651|280653|280655|280658|280659|280660|280662|281904|281906|281907|281910|281912|281917|281918|281928|281930|281931|281932|281939|281947|281949|281951|282027|282029|282033|282034|282036|282039|391148|391155|391160|447723|447740|447958|448053|448079|510999|511000|515755|515813|515853|515883|557013|557240|557279|558469|627720|627721|627722|627723|627724|627725|672380|683319|685696|685697|685698|685699|685700|685701|685702|689656|690577|780652|780655|780657|794651|818959|823847|823848|850769|864208|864209|864210|864211|864212|864213|864214|864215|864216|864217|864218|864219|864220|864221|864222|864223|864224|864225|864226|864227|864228|864229|864230|864231|865171|865172|921976|921977|921978|921979|930448|930449|930450|930451|952377|952378|952379|960427", + "text": "Familial hypercholesterolemia 4" + }, + { + "baseId": "19821|169750|413614|442344|553158|583132", + "text": "Polymicrogyria with optic nerve hypoplasia" + }, + { + "baseId": "19822|19823|19824|19825|190625|328628|328629|338578|338590|338591|338592|344653|344658|344659|344662|346073|346076|346081|771560|877645|877646|877647|877648|877649|877650|877651|877652|877653|877654|877655|877656|877657|877658|877659|877660|877661|877662|877663|877664|877665|877666", + "text": "Sclerosteosis 1" + }, + { + "baseId": "19826|19827|19828|19829|19832|23469|23483|23485|29229", + "text": "Autosomal recessive Dejerine-Sottas syndrome" + }, + { + "baseId": "19826|19830|19831|19833|47011|47012|47013|135494|135495|135496|135497|135498|135499|142520|205189|213453|213454|213456|213458|213459|213461|222808|222809|243334|243338|243339|243340|243342|245126|245128|245130|245131|245133|245135|245136|245136|245141|268889|333516|333520|333524|333534|333535|333539|333540|333547|333552|333554|333557|333558|333559|333570|343605|343607|343612|343613|343615|343617|343619|343624|343628|343630|348901|348903|348907|348913|348916|348917|348922|348924|348928|348932|348939|348940|348944|349843|349844|349847|349849|349854|349855|349858|349859|349862|349863|349866|349867|349869|349874|349875|349876|376503|377643|379572|379575|403251|403713|403719|403722|403724|468804|469824|469837|470233|470893|470912|533481|533506|538486|538486|540469|573114|577807|622460|622461|625426|625428|625437|648121|684811|689056|689058|694417|788927|798922|847688|847704|882038|882039|882040|882041|882042|882043|882044|882045|882046|882047|882048|882049|882050|882051|882052|882053|882054|882055|882056|882057|882058|882889|882890|905438|919867", + "text": "Charcot-Marie-Tooth disease, demyelinating, type 4F" + }, + { + "baseId": "19833|23473|25490|29208|29209|31791|47013|49436|222886|231988|245013|245128|245136|245137|426772|427125|440400|442658|481416|538486|539028|557010|622460|625000|625001|625014|625026|625039|625040|625057|625073|625088|625381|625382|625387|625388|625389|625390|625392|625393|625394|625395|625405|625423|625544|626198", + "text": "Dejerine-Sottas disease" + }, + { + "baseId": "19836|19837", + "text": "NEUROPATHY, HEREDITARY SENSORY, TYPE IC" + }, + { + "baseId": "19836|204570|244921|271912|321515|321521|321526|321530|321531|321535|321536|321542|321544|321545|321547|321551|321552|321560|321561|321578|321582|321584|321585|321587|321592|321596|321604|321608|321609|321611|321619|321620|321624|321626|330808|330810|330814|330817|330818|330820|330822|330826|330834|330836|330839|330841|330844|330853|330855|330860|330862|330866|330867|330869|330870|330875|330876|330880|330884|330886|330888|337450|337453|337459|337465|337472|337474|337475|337477|337479|337482|337483|337485|337487|337489|337490|337495|337500|337504|337505|337506|337508|337512|337518|337519|337525|337533|337534|337539|339488|339500|339501|339503|339504|339505|339507|339524|339527|339528|339531|339533|339543|339545|339551|339562|339563|339565|339567|339569|339573|339576|339579|339587|339590|339592|339594|339595|339597|339602|339607|339608|339612|339617|373221|373222|373925|374378|376236|376240|376258|421996|433943|445258|463538|463539|463541|463546|463548|464154|464158|464412|464534|464539|464544|464550|464556|464562|464565|504643|504872|505137|505561|513624|528318|528325|528389|528393|528401|528403|528784|528786|528791|528793|528797|566669|566672|566673|568326|569052|569057|572948|572958|572961|609900|625308|642756|642757|642758|642759|642760|642761|642762|642763|642764|642765|642766|642767|642768|642769|652426|652476|652562|652893|656267|702999|725840|820651|820652|841857|841858|841859|841860|841861|841862|841863|841864|841865|841866|841867|841868|841869|841870|841871|852017|872752|872753|872754|872755|872756|872757|872758|872759|872760|872761|872762|872763|872764|872765|872766|872767|872768|872769|872770|872771|872772|872773|872774|872775|872776|872777|872778|872779|872780|872781|872782|872783|872784|872785|872786|872787|872788|872789|872790|872791|872792|872793|876458|919546|927188|927189|936755|941070|948708|948709|948710|957324|957325|981884", + "text": "Hereditary sensory and autonomic neuropathy type IC" + }, + { + "baseId": "19838", + "text": "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE" + }, + { + "baseId": "19839|19840|19841|19842|143025|194439|205763|231722|244554|271540|308911|313601|319383|319389|319967|319969|319970|319975|359759|370961|373125|415204|415205|444531|459274|459599|459600|459678|459680|460164|460167|460170|503202|524674|524680|524687|524919|524920|525020|525025|525201|525206|525208|525212|563305|563306|563310|563314|563316|564115|564118|565976|565980|565984|565986|569171|638394|638395|638396|638397|638398|638399|638400|652226|664449|692700|692701|692702|692703|695451|701085|737235|767508|777783|820169|836285|836286|836287|836288|836289|836290|836291|836292|836293|836294|836295|836296|836297|836298|836299|851353|852528|902510|925635|925636|934828|940942|946681|946682|946683|946684|955900|959923", + "text": "Hereditary sensory and autonomic neuropathy type 1" + }, + { + "baseId": "19839|19840|19841|19842|19844|143024|143025|194439|271540|308901|308902|308904|308908|308910|308911|313574|313578|313579|313580|313582|313590|313591|313601|313607|319360|319362|319363|319370|319372|319383|319389|319963|319965|319967|319969|319970|319975|373125|444531|444532|459680|524687|525020|525206|563314|565984|790918|799595|799596|836287|852528|902504|902505|902506|902507|902508|902509|902510|902511|902512", + "text": "Neuropathy, hereditary sensory and autonomic, type 1A" + }, + { + "baseId": "19842|32213|51184|245116|360806|613539", + "text": "Sensorimotor neuropathy" + }, + { + "baseId": "19843|359759", + "text": "Neuropathy, hereditary sensory and autonomic, type IA, severe" + }, + { + "baseId": "19845|19845|39467|188966|257379|257379|335926|335929|335932|335935|335939|335940|335941|335943|335948|335951|335960|335961|335967|335968|335980|335983|335987|335988|335992|336001|345625|345637|345654|345656|345658|345660|345665|345671|345673|345678|345680|345692|345693|345695|345698|345699|345704|345705|345707|345712|345714|345716|345718|345724|345731|345732|345734|345742|345749|350177|350180|350182|350184|350186|350187|350187|350190|350190|350193|350194|350197|350200|350204|350207|350208|350210|350211|350212|350214|350215|350221|350223|350224|350228|350229|350231|351244|351246|351249|351250|351256|351259|351262|351263|351266|351267|351270|351272|351275|351276|351278|351281|351283|442304|442305|442305|470472|470472|470961|471454|471454|471456|471456|533583|533585|533631|533643|533643|533650|533651|534171|571320|572940|572941|573579|575121|648778|648779|648780|648781|653639|694572|694573|705569|780056|821335|848482|848483|848484|848485|848486|886346|886347|886348|886349|886350|886351|886352|886353|886354|886355|886356|886357|886358|886359|886360|886361|886362|886363|886364|886365|886366|886367|886368|886369|886370|886371|886372|886373|886374|886375|886376|886377|886378|886379|886380|886381|886382|886383|886384|886385|886386|886387|886388|886389|886390|886391|886392|886393|886394|886395|886396|886397|886398|886399|886400|886401|887477|887478|929224|929225", + "text": "Amyotrophic lateral sclerosis type 8" + }, + { + "baseId": "19845|19845|188966|257379|345654|350187|350190|442304|442305|470472|470961|471454|471456|533583|533585|533631|533643|533650|533651|534171|571320|572940|572941|573579|575121|648778|648779|648780|648781|653639|694572|694573|705569|780056|821335|848482|848483|848484|848485|848486|929224|929225", + "text": "Spinal muscular atrophy, late-onset, finkel type" + }, + { + "baseId": "19845", + "text": "Amyotrophic lateral sclerosis, typical" + }, + { + "baseId": "19846", + "text": "Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to" + }, + { + "baseId": "19846|205777|264787|861326|861327|861346|861347|861364|861413", + "text": "Juvenile amyotrophic lateral sclerosis" + }, + { + "baseId": "19847|19848|19849|19850|192436|227415|337905|337906|337907|337910|337913|347516|347518|347519|347522|347523|351419|351420|351423|351426|351428|352419|352420|352421|352426|352433|352434|438226|481385|508941|534312|588966|620686|620687|649454|649455|649456|649457|649458|649459|694717|694718|705903|849298|891135|891136|891137|891138|891139|891140|891141|891142|891143|891144|891145|891146|891147|891148|891820|939300|951458|951459|951460|959085|959086", + "text": "Parkinson disease 15" + }, + { + "baseId": "19851|19852|19853|19855|19856|19856|19857|19857|19858|19858|19859|19860|19860|19864|19865|19867|19868|19869|19869|19870|19871|19872|19873|19874|19874|19875|19877|19878|19879|19879|19881|19881|23489|38434|52654|52655|52656|52656|52657|52659|52661|52662|52664|52665|52666|52668|52668|52669|52670|52671|52673|52674|52675|52677|52678|52679|52680|52682|52684|52685|52686|52687|52688|52690|52691|52693|52694|52694|52695|52696|52697|52698|52699|52700|52701|52702|52704|52707|52708|52709|52710|52712|52713|52714|52715|52715|52716|52719|52720|52722|52724|52726|52727|52728|52729|52732|52733|52734|52734|52735|52737|52738|52739|52740|52742|52743|102920|174024|174027|174031|174032|174033|174034|174158|174159|174162|174165|174167|186722|186723|186724|186725|186726|186727|186728|186729|186730|186731|186732|186733|186733|186734|186735|186736|186737|186738|186739|186740|186741|186742|196183|201049|201055|227307|229532|229533|229534|229537|229539|229541|229543|229545|229545|252559|267149|272115|276776|276786|277042|277056|277061|277062|277618|277644|277648|277682|277773|301409|301412|301413|301414|301427|301428|301429|301436|301439|302958|304625|304626|304627|304628|304629|304633|304659|304660|304662|304663|304664|304680|304684|309254|309262|309273|309281|309287|309294|309295|309297|309304|309451|309452|309453|309457|309458|309459|309464|309466|357526|357527|357528|357529|357530|357531|357532|357533|357534|357535|357536|357537|357538|357539|357540|357541|357542|357543|357544|357545|357546|357547|357548|357549|357550|357551|357552|357553|357554|368833|369418|389226|389229|421612|438847|439903|439905|439906|442645|493530|496881|496919|496920|515169|544002|544004|544005|544006|544009|544015|544031|544032|544034|544036|544039|544042|544045|544048|544050|544051|544053|544054|544067|544072|544077|544080|544086|544087|544090|544095|544096|544101|544283|544285|544290|544299|544301|544308|544310|544311|544312|544316|544324|544325|544334|544335|544337|544338|544339|544340|544343|544345|544346|544348|544351|544352|544359|544360|544361|544366|544368|544369|544370|544373|544375|544376|544377|544379|544380|544382|544385|544386|544391|544393|544395|544400|544402|544406|544409|544412|544415|544422|544424|544425|544427|544433|544434|544435|544442|544442|544448|544449|544452|544453|544456|544458|584003|615803|654475|679201|722230|730452|750330|765973|765977|765978|765979|782722|787521|801644|801645|816404|832780|897176|897177|897178|897179|897180|897181|897182|897183|897184|897185|897186|897187|897188|897189|897190|897191|897192|897193|897194|897195|897196|897197|897198|897199|897200|897201|897202|897203|897204|897205|897206|897207|897208|897209|897210|897211|897212|897213|900297|900298|970056|978378|978379|978380|978381", + "text": "Pendred syndrome" + }, + { + "baseId": "19854|19855|19856|19856|19857|19857|19858|19858|19859|19860|19860|19861|19862|19863|19864|19865|19868|19869|19869|19873|19874|19877|19878|19879|19879|19880|19881|19881|22508|22509|23488|23489|38434|52654|52655|52656|52657|52659|52661|52662|52664|52666|52668|52668|52677|52679|52684|52685|52688|52693|52694|52694|52695|52696|52698|52701|52702|52707|52713|52714|52715|52715|52716|52724|52726|52727|52731|52734|52735|52742|52743|102920|134763|134764|137037|137038|141684|141685|174031|174032|174158|174159|186726|186727|186731|186733|186733|186734|186735|186737|186740|186741|192326|192326|192437|196183|201049|201049|201052|201055|201055|201057|201057|201062|227307|229532|229541|229545|238152|251840|266314|269636|270984|271776|274298|276764|276765|276766|276771|276772|276775|276777|276778|276779|276780|276787|276788|277031|277033|277034|277037|277043|277044|277057|277064|277070|277071|277073|277614|277615|277617|277626|277643|277669|277676|277681|277683|277684|277687|277768|277769|277772|277774|277775|277778|277779|277782|296819|296820|296823|298748|298759|298761|298762|298764|298766|298781|298785|298790|301409|301412|301413|301414|301427|301428|301429|301436|302959|302975|302985|302988|303131|303132|303135|303136|303137|303144|304625|304626|304627|304628|304633|304659|304660|304662|304663|304664|304680|304684|309254|309262|309273|309281|309287|309294|309295|309297|309304|309451|309452|309453|309457|309458|309459|309464|357529|357534|357535|357540|357553|364563|364622|369418|389229|404601|433920|439899|439900|439901|439902|439903|439904|439905|439906|439907|439908|439909|439910|442645|489073|491207|515169|544005|544101|544308|544316|544369|544375|544380|544382|544391|544442|584003|615796|615797|615798|615799|615800|615801|615802|615803|654475|679192|679193|679194|679195|679196|679197|679198|679199|679200|679202|679203|679204|699015|722230|749419|765977|801644|862502|862503|862504|862505|862506|862507|862508|862509|862510|862511|862512|862513|862514|862515|862516|862517|862518|862519|862520|862521|862522|862523|862524|862525|862526|862527|862528|862529|862530|862531|862532|862533|862534|862535|893858|893859|893860|893861|893862|893863|893864|893865|893866|893867|893868|893869|893870|893871|893872|893873|893874|893875|893876|897176|897177|897178|897179|897180|897181|897182|897183|897184|897185|897186|897187|897188|897189|897190|897191|897192|897193|897194|897195|897196|897197|897198|897199|897200|897201|897202|897203|897204|897205|897206|897207|897208|897209|897210|897211|897212|897213|900297|900298", + "text": "Deafness, autosomal recessive 4, with enlarged vestibular aqueduct" + }, + { + "baseId": "19856|19857|19858|19859|19860|19864|19874|19877|19878|19881|52665|186731|229545|620796|975897", + "text": "SLC26A4-Related Disorders" + }, + { + "baseId": "19878|21885|23308|29165|29190|45263|45357|45358|52071|52182|52997|54849|54851|54852|54853|54854|54857|54862|54864|54867|54871|54874|54875|54876|54878|54882|54882|54886|54888|54892|54898|67638|67758|77939|78562|99385|174047|177380|179122|179133|188550|188574|188722|189798|196689|196972|198498|224349|224519|225032|229564|252655|266688|281616|302196|302212|302215|302216|302224|305396|305405|305406|305426|305434|305440|305443|305444|305445|305447|310221|310227|310228|310229|310234|310323|310325|310327|310328|310329|310346|310347|310357|360891|369358|405107|424509|431889|456504|456900|457546|457592|471375|480667|480668|480669|480670|480671|480672|480673|480674|480675|480676|480677|480678|480679|480680|480681|480682|480683|480684|480685|480686|480687|480688|480689|480690|480691|480692|480693|480694|480695|480696|480697|480698|480699|480700|480701|480702|480703|480704|480705|480706|480707|480708|480709|480710|480711|480712|480713|480714|480715|480716|480717|480718|480719|480720|480721|480722|480723|480724|509882|511090|897682|897683|897684|897685|897686|897687|897688|897689|897690|897691|897692|897693|897694|897695|897696|897697|897698|897699|897700|919090", + "text": "Wolff-Parkinson-White pattern" + }, + { + "baseId": "19882", + "text": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF" + }, + { + "baseId": "19885|19886|19887|101375|101376|101377|101378|101379|101382|101383|101385|101388|101390|101390|142411|142412|142413|142414|142415|142417|142418|142420|142422|142426|142428|142429|142430|169585|169586|169587|169589|169590|169591|169593|169594|169595|169596|169598|169599|169599|169600|169601|169602|188053|194448|195710|203566|203574|203578|203586|203593|203595|203603|203621|203627|208613|208617|208619|269764|269764|334102|349265|349267|350235|350236|350237|350239|350241|350243|350248|377606|377883|379617|403779|430258|490857|551744|570954|573264|575017|575020|580406|620912|648288|689148|798757|802226|847905|882328|882329|882330|882331|882332|882333|882334|882917|882918|966010|966011|966012|971139|976517", + "text": "Early infantile epileptic encephalopathy 10" + }, + { + "baseId": "19886|101390|169599|185664|185665|185666|188053|203593|203595|269764|403779|551744|573264|575017|575020|578568|679847", + "text": "Ataxia-oculomotor apraxia 4" + }, + { + "baseId": "19886|39601|83720|101374|101375|101376|101377|101378|101379|101380|101381|101382|101383|101384|101385|101386|101388|101390|101585|135344|135346|135348|135350|135351|135353|135354|135355|135356|135357|135358|135359|135360|135361|135362|135363|142411|142412|142413|142414|142415|142417|142419|142420|142421|142422|142424|142425|142426|142428|142429|169586|169587|169589|169590|169591|169594|169596|169599|169601|177967|185664|188053|191405|191561|191690|191824|192675|192990|194448|194953|195359|195710|196009|196283|203566|203568|203571|203573|203574|203575|203576|203577|203578|203580|203581|203584|203585|203587|203590|203592|203593|203594|203598|203601|203604|203608|203610|203611|203612|203613|203616|203619|203621|208613|208617|208619|208711|237071|243593|243594|257444|257445|267446|269129|269764|271299|272504|272782|336426|336429|336450|336464|346145|346148|346150|346152|346169|350241|350451|350453|350454|350455|350458|350460|350465|350468|350469|350470|350471|350473|350474|350476|350482|351497|351499|351502|351503|351507|351510|351514|351517|351519|351520|351521|351525|351528|351530|351532|351537|360438|364121|376665|376673|376689|377868|379616|379617|403350|403695|403697|403699|403701|403704|403779|403781|403791|403856|404208|404211|404213|404230|404234|410653|410658|410663|415665|422295|426322|430415|430416|442240|446171|446174|469015|469504|469507|469509|469511|469519|469969|469972|470274|470462|470464|470479|470484|470489|470552|470560|470563|470568|471074|471115|471116|471119|471122|471130|471532|471541|471542|471548|471553|490855|491081|493596|507125|507128|507929|533137|533139|533143|533151|533259|533277|533278|533282|533284|533285|533287|533471|533511|533693|533695|533698|533700|533709|533713|533726|533733|533740|533744|533746|533747|533752|533755|533757|533760|533762|533764|533769|534319|534321|534324|539099|570945|570949|570950|570954|571428|571430|571432|571441|571442|571444|571450|572625|572629|572995|573000|573003|573005|573006|573264|573269|573274|573276|573698|573710|573711|575014|575015|575016|575017|575019|575020|575141|575142|575143|578568|580451|580455|580619|580624|580698|580700|584318|587698|614481|620921|648286|648287|648288|648289|648290|648291|648292|648293|648294|648295|648296|648297|648298|648299|648300|648301|648302|648303|648304|648305|648306|648307|648864|648865|648866|648867|648868|648869|648870|648871|648872|648873|648874|648875|648876|648877|653197|653626|684899|684900|689146|689147|689149|689150|689228|689229|689231|689234|689235|689236|689237|690237|690239|694606|694607|694608|694609|742565|757713|760920|772817|772821|773268|773275|776707|786476|802232|821281|821282|821314|821315|821348|821349|821350|821351|847885|847886|847887|847888|847889|847890|847891|847892|847893|847894|847895|847896|847897|847898|847899|847900|847901|847902|847903|847904|847905|847906|847907|848629|848630|848631|848632|848633|848634|848635|848636|848637|848638|848639|848640|848641|848642|848643|848644|848645|848646|848647|848648|848649|848650|848651|848652|848653|848654|848655|848656|848657|848658|848659|851855|852393|852886|852987|886561|886562|886563|886564|886565|886566|886567|886568|886569|886570|886571|886572|886573|886574|886575|886576|886577|886578|886579|886580|886581|886582|886583|886584|886585|886586|886587|886588|886589|886590|886591|886592|886593|886594|886595|886596|886597|886598|886599|886600|886601|886602|886604|887495|929047|929048|929049|929050|929051|929052|929272|929273|929274|929275|929276|929277|929278|929279|938786|938787|938788|938789|938790|938791|938792|938793|938794|938795|938796|938797|938798|939061|939062|939063|939064|939065|939066|939067|940489|941238|941239|941240|941256|950870|950871|950872|950873|951182|951183|951184|951185|951186|951187|951188|958698|958699|958700|958701|958702|958703|958925|958926|958927|958928|958929|958930|958931|960299|960925|960948", + "text": "Early infantile epileptic encephalopathy 12" + }, + { + "baseId": "19889|19890|19891|53251|53252|53253|53254|53255|53256|53257|75452|176237|176360|187219|187220|187221|193735|231119|336750|336755|336757|336759|336765|336766|346418|346422|346427|346428|350644|350645|350646|350647|350648|350649|351699|351700|351701|351704|351705|351708|351709|351712|351713|590337|886751|886752|886753|886754|886755|886756|886757|886758|886759|886760|886761|886762|886763|886764|886765|886766|887504|982228", + "text": "Deafness, autosomal recessive 29" + }, + { + "baseId": "19892|19894|19895|19897|19899|19900|19902|19903|19905|19906|19909", + "text": "Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1" + }, + { + "baseId": "19892|19893|19896|19897|19898|19904|19905|19908|19910|171757|171758|171759|178772|178773|178774|178776|178777|178778|250961|250962|354103|354104|354105|354106|354107|354108|354109|354110|354111|354112|354113|354114|354115|354116|354117|354118|354119|354120|354121|354122|354123|354124|354125|354126|354127|354128|354129|354130|354131|354132|354133|354134|354135|354136|354137|354138|354139|354140|354141|354142|354143|354144|354145|354146|354147|354148|354149|354150|354151|354152|354153|354154|354155|362075|384478|427126|550591|622791|622792|622793|622794|622795|622796|622797|622798|622799|622800|622801|622802|622803|622804|622805|622806|622807|622808|622809|622810|622811|622812|622813|622814|622815|622816|622817|622818|622819|622820|622821|622822|622823|622824|622825|622826|622827|818224", + "text": "Blepharophimosis, ptosis, and epicanthus inversus" + }, + { + "baseId": "19893|19896|19897|19898|19900|19901|39464", + "text": "Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2" + }, + { + "baseId": "19893", + "text": "Blepharophimosis, ptosis, and epicanthus inversus, type II with Duane retraction syndrome" + }, + { + "baseId": "19907|19908|19910|494916|513226", + "text": "Premature ovarian failure 3" + }, + { + "baseId": "19911|19912|19913|19914|19915|19916|19917|19918|19919|19920|205160|253619|253623|309005|309009|313767|313770|313771|319579|319583|319584|320160|320168|723674|723675|902595|902596|902597|902598|902599|902600|902601|902602|903447|903448|903449", + "text": "Testosterone 17-beta-dehydrogenase deficiency" + }, + { + "baseId": "19913|19914|19916|205160|259931|485709|485745|485746|485747|485748|485749|485750|485751|485752", + "text": "Pseudohermaphroditism" + }, + { + "baseId": "19923", + "text": "HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO" + }, + { + "baseId": "19925|19931", + "text": "Pituitary adenoma predisposition" + }, + { + "baseId": "19925|19926|19927|19928|19929|19930|19931|19932|19933|49580|49581|49582|49583|49584|49585|49586|49587|49588|49589|49590|49591|49592|49593|49594|49595|49596|49597|49598|49599|49600|49601|49602|49603|49604|49605|49606|49607|49608|49609|49610|49611|49612|49613|49615|49616|49617|49618|49619|49620|49621|49622|49623|49624|49625|49626|49627|49628|49630|49631|49632|49634|49635|49636|49637|49638|49639|254274|254275|254276|314891|314892|321250|321657|321659|321664|321673|321676|321678|321679|327770|327776|328842|328845|328849|328850|328858|328859|440017|440018|476010|476326|476355|810866|810885|810887|810903|810904|810914|868413|868414|868415", + "text": "Somatotroph adenoma" + }, + { + "baseId": "19932|30944|171718|171719|171720|171721|476010|476355", + "text": "Pituitary dependent hypercortisolism" + }, + { + "baseId": "19932", + "text": "Dopamine agonist response" + }, + { + "baseId": "19935", + "text": "Acheiropodia" + }, + { + "baseId": "19936|19938|19939|19941|19942|19945|19946|39453|39454|131903|138840|267812|268089|302229|302231|302235|302256|302261|302262|302264|302265|302269|302271|302272|302280|302281|302284|302285|302286|302290|302292|302294|302295|305453|305454|305456|305458|305461|305463|305480|305482|305484|305501|305504|305505|305506|310238|310241|310242|310248|310256|310271|310272|310273|310280|310282|310283|310284|310290|310295|310307|310313|310335|310360|310364|310365|310366|310373|310375|310377|310378|310386|310389|310395|310399|310400|310406|310407|310408|310415|310420|310429|310431|310432|310436|353808|897701|897702|897703|897704|897705|897706|897707|897708|897709|897710|897711|897712|897713|897714|897715|897716|897717|897718|897719|897720|897721|897722|897723|897724|897725|897726|897727|897728|897729|897730|897731|897732|897733|897734|897735|900334", + "text": "Polydactyly, preaxial II" + }, + { + "baseId": "19937|131903|165717|165719", + "text": "Tibia, hypoplasia or aplasia of, with polydactyly" + }, + { + "baseId": "19939|19941|19942|19945|131903", + "text": "Triphalangeal thumb" + }, + { + "baseId": "19940|19943|310236|310274|310336|310388|310404|310438", + "text": "Triphalangeal thumb polysyndactyly syndrome" + }, + { + "baseId": "19944|165718|576248", + "text": "Syndactyly, type IV" + }, + { + "baseId": "19947|19948|34370|34371|34372|49674|103705|103706|103707|141830|141831|141833|141834|141836|141837|141839|141840|141841|232037|232038|232039|232040|232044|232045|232047|232049|232050|232055|232058|232059|245082|245085|245086|245087|256646|264723|330937|330947|330954|330957|330967|330976|330982|330983|330984|330988|330992|330994|330999|331000|331005|331010|331012|331014|331017|331018|331019|331023|331031|331032|331038|331045|331047|331048|331049|331053|331054|331056|331060|341219|341226|341227|341251|341252|341261|341262|341276|341277|341285|341290|341296|341297|341299|341300|341303|341305|341307|341309|341313|341314|346756|346757|346758|346759|346761|346765|346766|346767|346770|346771|346774|346776|346780|346794|346795|346802|346804|346807|346808|346809|346813|346817|346820|346828|346831|346834|346845|346848|346850|346853|348041|348042|348043|348044|348045|348046|348047|348050|348053|348057|348058|348059|348060|348061|348062|348065|348070|348072|348077|348078|348080|348081|348083|348084|348090|348091|348096|375857|375858|375859|376754|376761|433667|433668|445948|467909|468811|468814|469219|469237|469627|469633|491476|506897|512877|532173|532180|532182|532185|532186|532269|532270|532564|532567|532580|532589|539079|570061|570066|570072|571852|571856|572524|572528|572571|574715|610124|614450|620895|620896|647111|647112|647113|647114|647115|647116|647117|647118|647119|647120|647121|647122|647123|647124|652885|653549|669717|694259|727684|731213|772100|800079|800080|800081|800082|821181|821182|846720|846721|846722|846723|846724|846725|846726|846727|846728|846729|846730|846731|846732|846733|846734|846735|846736|852270|879029|879030|879031|879032|879033|879034|879035|879036|879037|879038|879039|879040|879041|879042|879043|879044|879045|879046|879047|879048|879049|879050|879051|879052|879053|879054|879055|879056|879057|879058|879059|879060|879061|879062|879063|879064|879065|879066|879067|879068|879069|879070|879071|879072|879073|879074|879075|879076|879077|879078|879079|879080|879081|879082|879083|879084|880642|880643|928669|928670|928671|928672|938393|938394|940454|950476|950477|950478|950479|950480|950481|958449|958450|958451|982136|982137|982138", + "text": "Majeed syndrome" + }, + { + "baseId": "19949|19950|19951|19952|19953|102391|250096|250097|250098|250102|250104|250106|250108|281682|281684|281685|281686|281691|281692|281702|281704|281710|281715|281717|281718|282336|282337|282338|282341|282342|282343|282356|282357|282358|282364|282372|282373|283743|283748|283750|283754|283758|283760|283761|283777|283781|283782|283783|283790|283801|283802|283806|283812|283813|283814|284008|284010|284013|284016|284018|284019|284025|284032|284033|284035|284043|284060|284066|284073|620027|653925|653926|707688|707689|798480|880917|880918|880919|880920|880921|880922|880923|880924|880925|880926|880927|880928|880929|880930|880931|880932|880933|880934|880935|880936|880937|880938|880939|880940|880941|880942|880943|880944|880945|880946|880947|880948|880949|880950|880951|880952|880953|880954|880955|880956|880957|880958|880959|880960|882788|882789|882790|961501", + "text": "Myoglobinuria, acute recurrent, autosomal recessive" + }, + { + "baseId": "19954|19955|19955|19956|19957|19960|19961|19964|19966|19967|19971|19972|19972|53278|53279|53280|53281|53282|53283|55024|55025|55026|55031|55032|55037|55038|55040|55042|55045|55047|55048|55050|55052|55055|55056|55058|55060|55061|55062|55063|55067|55069|55070|55071|55073|55074|55076|55077|55077|55079|55082|55084|55088|55089|55090|55092|55093|55095|55096|55097|55099|55099|55100|55101|55102|55103|55104|55105|55106|55107|55108|55109|55110|55112|55112|55114|55120|55121|55122|55125|55126|55127|55129|55129|55130|55131|55136|55138|55139|55141|55142|55143|55147|55149|55150|55151|55152|55157|55161|55162|55165|55166|55167|55171|55172|55177|55180|55181|55182|55183|55184|55185|55186|55186|55187|55189|55191|55193|55196|55197|55197|55199|55201|55202|55203|55207|55208|55210|55222|55223|55224|55226|55227|55230|55232|55233|55236|55237|55239|55241|55243|55244|55245|55246|55247|55629|55640|101920|137041|137042|137043|140405|174676|174678|174683|174702|174719|174950|174952|174956|174958|174964|174965|174966|174966|174976|174977|174981|174982|174983|174991|175000|175002|175007|175133|175248|175252|175253|175257|175260|175264|175275|175278|175279|175285|175289|177131|177262|177262|177561|191834|191947|192050|194583|194667|195531|195802|226531|226539|228232|229845|229854|229855|229864|229867|229870|229873|229873|229883|229884|229886|229890|229902|229903|229907|253826|266037|266983|268780|269641|310646|310659|310668|310674|310687|310688|310691|310693|310695|310703|310704|310713|310714|310717|310726|310727|310729|310731|310736|310739|310742|310743|310745|310747|315907|315920|315925|315926|315927|315928|315929|315930|315942|315946|315947|315949|315971|315975|315976|315981|315982|315987|315990|316006|316010|316021|316031|316044|316047|321704|321718|321998|322001|322002|322004|322005|322010|322011|322034|322036|322048|322049|322050|322059|322061|322073|322079|322081|322087|322088|322089|322090|322102|322105|322106|322108|322644|322645|322647|322654|322656|322658|322659|322668|322674|322681|322684|322685|322686|322687|322694|322701|322704|322709|322710|322711|322712|322713|322714|322725|322726|353137|353139|353147|353148|384487|404788|407901|413286|444640|488663|488812|496542|496949|496950|497151|497160|513307|513308|513309|513310|536796|551563|551564|576351|576352|588232|590298|609761|620367|656013|681817|752219|767923|767925|767926|767935|787689|837194|837234|857242|866114|866115|866116|866117|866118|866119|866120|866121|866122|866123|866124|866125|866126|866127|866128|866129|866130|866131|866132|866133|866134|866135|866136|866137|866138|866139|866140|866141|866142|866143|866144|866145|866146|866147|866148|866149|866150|866151|866152|866153|866154|866155|866156|866157|866158|866159|866160|866161|866162|866163|866164|866165|866166|866167|866175|868487|868488|868489|868490|868491|868492|868493|868494|868495|868496|868497|868498|906129|919273|919274|919275|919276|919277|919278|976659", + "text": "Usher syndrome type 1D" + }, + { + "baseId": "19955|55026|55042|55045|55048|55057|55060|55077|55079|55138|55157|55183|55186|55205|55241|55243|99987|174991|175248|175260|175275|175279|175285|175289|191947|192050|229864|229867|229873|229883|229890|266983|269641|310668|310674|310688|310691|310695|310704|310717|310726|310729|310731|310736|310739|310742|310743|310745|310747|315906|315907|315920|315925|315926|315927|315928|315930|315942|315946|315947|315975|315976|315981|316006|316010|316021|316031|322001|322004|322010|322034|322036|322048|322059|322073|322087|322088|322089|322090|322101|322105|322109|322644|322645|322646|322647|322651|322654|322658|322668|322674|322686|322701|322709|322710|322711|322712|322713|322725", + "text": "CDH23-Related Disorders" + }, + { + "baseId": "19955|19958|19959|19961|19961|19962|19963|19966|19967|19968|53278|53279|53280|53281|53282|53283|55024|55025|55026|55031|55032|55037|55038|55040|55042|55045|55047|55048|55050|55052|55055|55056|55058|55060|55061|55062|55063|55067|55069|55070|55071|55073|55074|55076|55077|55077|55079|55082|55084|55088|55089|55090|55092|55093|55095|55096|55097|55099|55099|55100|55101|55102|55103|55104|55105|55106|55107|55108|55109|55110|55112|55112|55114|55120|55121|55122|55125|55126|55127|55129|55129|55130|55131|55136|55138|55139|55142|55143|55147|55149|55150|55151|55152|55157|55161|55162|55165|55166|55167|55171|55172|55177|55180|55181|55182|55183|55184|55185|55186|55186|55187|55189|55191|55193|55196|55197|55197|55199|55201|55202|55203|55207|55208|55210|55222|55223|55224|55226|55227|55230|55232|55233|55236|55237|55239|55241|55243|55244|55245|55246|55247|101920|140405|174676|174678|174683|174950|174952|174956|174958|174964|174965|174966|174966|174976|174977|174981|174982|174983|174991|174996|175000|175002|175007|175248|175252|175253|175257|175260|175264|175275|175278|175279|175285|175289|177131|177262|177262|177561|191834|191947|192050|194583|194667|195531|195802|228231|228232|229845|229855|229864|229867|229870|229873|229873|229883|229884|229886|229890|229894|229897|229902|229903|229907|237615|253826|266983|268780|269641|310646|310659|310668|310674|310687|310688|310691|310693|310695|310703|310704|310713|310714|310717|310726|310727|310729|310731|310736|310739|310742|310743|310745|310747|315907|315920|315925|315926|315927|315928|315929|315930|315942|315946|315947|315949|315971|315975|315976|315981|315982|315987|315990|316006|316010|316021|316031|316044|316047|321998|322001|322002|322004|322005|322010|322011|322034|322036|322048|322049|322050|322059|322061|322073|322079|322081|322087|322088|322089|322090|322102|322105|322106|322108|322644|322645|322647|322654|322656|322658|322659|322668|322674|322681|322684|322685|322686|322687|322694|322701|322704|322709|322710|322711|322712|322713|322714|322725|322726|353137|353139|353147|353148|362230|389232|389233|389234|389235|389236|389237|389238|404790|407901|413286|437859|439882|439911|439912|439913|439914|439915|439916|439917|439918|444640|488663|488812|496542|497151|497160|536796|551778|588232|609761|610567|612090|615810|615811|615838|615839|620367|620368|656013|752219|767923|767925|767926|767935|787689|837194|837234|857242|866114|866115|866116|866117|866118|866119|866120|866121|866122|866123|866124|866125|866126|866127|866128|866129|866130|866131|866132|866133|866134|866135|866136|866137|866138|866139|866140|866141|866142|866143|866144|866145|866146|866147|866148|866149|866150|866151|866152|866153|866154|866155|866156|866157|866158|866159|866160|866161|866162|866163|866164|866165|866166|866167|866175|868487|868488|868489|868490|868491|868492|868493|868494|868495|868496|868497|868498|966361|976659", + "text": "Deafness, autosomal recessive 12" + }, + { + "baseId": "19955|55055|55077|55099|55108|55112|55142|55165|55166|55186|55197|55241|101920|174966|175253|177262|195531|229873|322073|407901|413285|431528|431529|431530|431531|919284|976659", + "text": "Pituitary adenoma 5, multiple types" + }, + { + "baseId": "19964|19965|19973|55611", + "text": "USHER SYNDROME, TYPE ID/F, DIGENIC" + }, + { + "baseId": "19967|21280|21650|21652|32039|32041|32042|32043|32044|32045|32046|32048|32049|32050|32053|32055|32062|32066|32068|32071|34237|34239|34240|34241|44943|52304|52356|52371|52377|53882|53884|53898|53899|53902|53904|53907|53912|53913|53914|53921|53922|53923|53930|54298|54330|54481|54484|55056|55106|57422|75292|100288|169014|174003|174149|174154|175072|175075|175091|175360|175361|175904|176305|176463|186857|186859|186864|190031|204595|227350|228470|229894|229966|230518|230519|237597|237625|266218|271402|358131|358134|358135|362175|375519|407904|413167|421956|441576|445123|445124|489962|496205|508743|546404|546920|546940|576370|576371|581737|609078|791171|792676|857346|918287|963437|963438|963439|966545|966546|966867|966868", + "text": "Nonsyndromic hearing loss and deafness" + }, + { + "baseId": "19969|19970|19971|19972|19972|19973|19977|55601|55604|55605|55606|55607|55609|55611|55613|55614|55615|55616|55617|55618|55619|55620|55621|55622|55623|55625|55629|55629|55631|55639|55640|55642|55643|55645|55647|55650|55657|55662|55663|55664|55666|55669|55670|55672|55673|55674|55676|55678|128634|132045|174713|174714|174715|174717|174718|174719|174719|174948|175117|175123|175125|175127|175131|175132|175133|177914|178275|186795|192697|214844|226531|229793|229807|229809|229810|229813|238042|238043|266037|268643|268671|275030|315651|321687|321704|321718|321718|357840|357841|357842|357843|357844|357845|357846|357847|357848|357849|357850|357851|357852|357853|357854|357855|357856|357857|357858|357859|357860|357861|357862|357863|357864|357865|357866|357867|357868|357869|357870|357871|357872|357873|357874|373399|404788|407863|415224|444618|490591|540589|540590|540591|540592|540593|540594|540595|540596|540597|545096|545097|545099|545102|545105|545107|545108|545109|545111|545114|545118|545121|545122|545124|545127|545130|545144|545154|545159|545167|545172|545174|545186|545187|545191|545200|545206|545209|545210|545212|545213|545215|545217|545219|545222|545230|545235|545241|545243|545250|545252|545260|545264|545269|545270|545272|545276|545281|545283|545298|545302|545303|545305|545306|545439|545442|545445|545447|545450|545455|545461|545464|545465|545470|545473|545478|545480|545482|545486|545488|545489|545491|545492|545494|545496|545497|545498|545501|545502|545504|545505|545506|545507|545508|545509|545511|545514|545516|545517|545521|545522|545524|545527|545529|545531|545535|545536|545538|545539|545542|545544|545547|545548|545549|545552|545554|545555|545558|545559|545563|545564|545567|545568|545571|545573|545575|545576|545577|545579|545581|545583|545585|545587|545588|545590|545592|545594|545596|545598|545599|545601|545602|545604|545606|545608|545618|545619|545623|545627|545629|545631|545634|545636|545640|545644|545645|545652|545653|545725|545729|545731|545733|545742|545746|545748|545751|545755|545757|545758|545760|545761|545762|545764|545765|545775|545779|545780|545785|545795|545796|545797|545799|545801|545803|545806|545819|545829|545834|545835|545836|545839|545850|545856|545858|545861|545863|545868|545871|545873|545880|545883|545885|545889|545891|545893|545895|545901|545904|545909|545912|545913|545915|545923|545927|545929|545931|549462|578485|614603|614604|654596|712405|737518|737520|744608|752141|759941|767801|767802|767806|767807|767810|767811|767813|767817|767818|767821|775524|783618|783622|783623|783633|783634|783636|783644|790964|790965|836952|836953|836954|836957|836960|836963|836964|836968|836971|836972|836973|836980|836984|866007|866009|925836|946936|978645|978646|978647|978648|978649|978650|978651|978652|978653|978654|978655|978656|978657|978658|978659|978660|978661|978662|978663|978664|978665|978666|978667|978668|978669|978670|978671|978672|978673|978674|978675|978676|978677|978678|978679|978680|978681|978682", + "text": "Usher syndrome type 1F" + }, + { + "baseId": "19970|19972|19972|19974|19975|33468|55629|55640|132045|174719|266037|321704|321718|357856|389231|404788|444618|545895|553261|578485|610569|980939", + "text": "Deafness, autosomal recessive 23" + }, + { + "baseId": "19978|19979|19980|140907|140908|140909|301147|301150|301151|301152|301154|301163|301165|301166|301167|304225|304227|304228|304236|304237|304239|304240|304241|304248|304255|308918|308919|308925|308929|308930|308931|308932|308934|308935|308936|308938|308941|309016|309021|309022|309025|309029|309029|309030|309038|309040|552108|589206|896971|896972|896973|896974|896975|896976|896977|896978|896979|896980|896981|896982|896983|896984|896985|896986|896987|896988|900276|917626|917628", + "text": "Stargardt Disease 3" + }, + { + "baseId": "19981|19982|19983|19984|19985|39449|39450|55254|55255|55256|55259|55262|55263|55266|55267|55268|55269|55270|55272|55279|55280|55284|55285|55286|55287|55289|55294|55296|55297|55299|176239|176242|176243|176363|176365|176367|176368|195018|227412|336843|336849|336852|336855|336863|336865|336868|346522|346523|346531|346536|346538|346550|346551|346553|346555|346558|350731|350733|350735|350737|350739|350744|351800|351801|351804|351805|378449|389252|426362|433975|553272|586663|615847|620671|654922|760793|800176|800177|816510|861599|886843|886844|886845|886846|886847|886848|886849|886850|886851|886852|886853|886854|886855|886856|886857|886858|886859|886860|886861|886862|886863|886864|886865|886866|886867|887512|887513|887514|887515|962918", + "text": "Deafness, autosomal recessive 8" + }, + { + "baseId": "19986|19987|19988|19989|19990|19991|51090|51091|190503|192426|192427|205139|209347|213900|251097|251098|268772|269148|290031|290040|290041|290048|290050|290053|290058|290062|290063|290064|290066|290069|290071|290076|290077|290082|290104|290106|290109|290115|290116|290118|290119|290120|290781|290783|290784|290785|290789|290790|290791|290795|290796|290810|290828|290838|290851|290856|290872|290877|290878|290879|290880|290886|290895|290896|290899|290901|290903|290904|290907|290912|290913|290914|290918|293952|293953|293955|293957|293960|293962|293965|293968|293982|293983|293987|293988|293989|293992|293998|294010|294013|294015|294017|294422|294441|294456|294469|294473|294489|294497|294501|294505|294506|294509|294515|294533|294534|294539|294540|367394|421433|431546|433463|433464|452060|452061|452063|452075|452326|452331|452335|452397|452398|452537|452543|519078|519079|519082|519085|519102|519255|519257|519263|519266|558882|561384|561386|631179|631180|631181|631182|631183|631184|631185|631186|631187|631188|631189|631190|651080|651120|686390|691378|695199|698041|698043|799322|799323|819367|827907|827908|827909|827910|827911|827912|827913|827914|851333|888676|888677|888678|888679|888680|888681|888682|888683|888684|888685|888686|888687|888688|888689|888690|888691|888692|888693|888694|888695|888696|888697|888698|888699|888700|888701|888702|888703|888704|888705|888706|888707|888708|888709|888710|888711|888712|888713|888714|888715|888716|888717|888718|888719|888720|888721|888722|888723|888724|888725|888726|888727|888728|888729|888730|888731|888732|888733|888734|888735|888736|888737|888738|888739|888740|888741|888742|888743|888744|888745|888746|888747|888748|918828|923140|923141|923142|923143|931888|931889|943478|943479|953437|953438|970766", + "text": "Osteogenesis imperfecta type 7" + }, + { + "baseId": "19992|19993|19994|48252|176496|176497|176498|176633|176634|176635|191090|230778|230779|230780|230781|230782|242965|242966|242971|242972|242973|242974|256381|256382|256384|256387|256388|256390|256392|256393|329754|329755|329757|329758|329763|329764|329765|329766|340046|340056|340057|340060|340061|340068|345756|345758|345759|345762|345763|345769|345773|347147|347148|347151|347155|402506|402517|403139|532130|532146|548331|569714|571581|620888|646669|646670|688829|688839|688841|694189|771799|792808|878358|878359|878360|878361|878362|878363|878364|878365|878366|878367|878368|880573|880574", + "text": "Ciliary dyskinesia, primary, 9" + }, + { + "baseId": "19995|19997|19998|19999|20000|20001|20002|20003|20004|20005|34400|34401|34403|34404|34405|34406|34407|34408|34410|34412|34413|34414|34416|34417|34418|34419|34420|34421|34422|34423|34424|34425|34426|34427|34428|34429|34430|34431|34432|34433|34434|34435|34436|34437|34438|34439|34440|34441|34442|34443|34444|34445|34446|34448|34449|34450|34451|34452|34454|34455|34456|34457|34458|34459|34460|34461|34462|34463|34464|34465|34466|34467|34468|34469|34470|34471|34472|34473|34474|34475|34476|34477|34478|34479|34480|34481|34482|34483|34484|34485|34486|34487|34488|34489|34490|34491|34492|34493|47412|52677|101783|101784|101785|101786|140126|140127|140130|165918|167615|167616|167617|167618|167619|167621|167622|167623|167624|167625|167626|167627|167629|167630|167631|167632|167633|167634|167636|167637|167640|167641|167642|167643|167644|167645|167646|167647|167648|167650|167651|167652|167653|167655|167656|167658|167659|167660|167661|167662|167664|167665|167666|167667|167668|167669|167670|167671|167672|167673|167674|167675|167676|167677|167678|167679|167680|167681|167682|167683|167684|167685|167687|167688|167689|167690|167691|167692|167693|167694|167696|167697|167698|167700|167701|167702|167703|167704|167705|167706|167707|167708|167709|167710|167711|167714|167715|167716|167717|167718|167720|167721|167722|167723|167725|167727|167728|167730|167731|167732|167733|167734|167735|167736|167737|167738|167739|167740|167741|167742|167743|167744|167745|167746|167747|167748|167750|167751|167752|167753|167755|167756|167758|167759|167760|167761|167762|167763|167765|167766|167767|167768|167769|167770|177188|177495|192034|192036|192039|192040|192041|192777|206731|206733|206735|206738|206739|206740|206741|206742|206743|206744|206745|206748|206750|206754|209337|226872|227207|231448|231451|231458|231459|231462|231475|259640|266601|266967|268441|268982|272265|272714|272991|278274|278275|278276|278277|278279|278282|278283|278284|278285|278286|278287|278290|278292|278293|278294|278296|278299|278300|278301|278302|278303|278304|278306|278314|278315|278319|278322|278323|278326|278327|278331|278333|278337|278339|278344|279335|279336|279338|279340|279342|279347|279349|279362|279366|279370|279373|279374|279377|279382|279398|279400|279403|279419|279420|279422|279447|279449|279451|279464|279466|279472|279479|279481|279482|279488|279513|279516|279517|279520|279521|279522|362223|362224|364730|389113|404996|424265|427666|427671|427675|427676|427677|427679|427680|427682|427683|432207|432208|488664|498177|498179|498309|513237|513501|514418|514852|576449|578372|619979|619980|619981|622308|622858|681820|681821|681822|681823|731977|745949|745952|789105|793998|863164|863165|863166|863167|863168|863169|863170|863171|863172|863173|863174|863175|863176|863177|863178|863179|863180|863181|863182|863183|863184|863185|863186|863187|863188|863189|863190|863191|863192|863193|863194|863195|863196|863197|863198|863199|863200|863201|863202|863203|863204|863205|863206|863207|863208|863209|863210|863211|863212|863213|863214|863215|863216|865081|865082|865083|865084|965948|965949|965950|965951|965952|965953|966032|980901|983300|983789", + "text": "Primary autosomal recessive microcephaly 5" + }, + { + "baseId": "20006|20007|20011|20014|20019|39442|190614|191425|191426|196061|224255|266271|268049|268873|271029|271030|273979|274052|275501|286312|286313|286320|286321|286369|287067|287085|289380|289382|289411|289418|289759|289763|289767|289777|488390|489018|491897|491943|492385|496703|536628|584794|585560|620748|630003|708280|708281|733477|781327|826480|826481|826482|826483|826484|851178|922770|922771|939894|942919", + "text": "Sitosterolemia" + }, + { + "baseId": "20006|20007|20008|20009|20010|20011|20012|20013|20014|48119|190614|191425|196061|196062|265756|267766|268049|268307|268873|268994|269660|271030|271240|272701|272704|272795|272936|273321|274052|274207|274619|275190|275261|275501|275518|286300|286307|286308|286309|286310|286312|286313|286314|286319|286320|286321|286326|286327|286331|286332|286334|286344|286346|286353|286355|286364|286365|286367|286370|287052|287056|287058|287062|287066|287067|287074|287076|287077|287078|287079|289360|289364|289377|289380|289382|289387|289389|289390|289393|289394|289403|289409|289415|289417|289753|289755|289756|289761|289762|289763|289765|289766|289774|289777|289782|289791|289792|289799|289801|289803|289804|289805|489018|489019|490263|491353|493333|494188|584794|585411|585560|585800|586372|586439|588007|588061|588380|588878|589582|697572|708280|708281|708282|719880|884919|884920|884921|884922|884923|884924|884925|884926|884927|884928|884929|884930|884931|884932|884933|884934|884935|884936|884937|884938|884939|884940|884941|884943|884944|884945|884946|884947|884948|884949|884950|884951|884952|884953|884954|884955|884956|884957|884958|884959|884960|884961|887364|887365|887366|887367|961065", + "text": "Sitosterolemia 1" + }, + { + "baseId": "20014|196061|491943", + "text": "Gallbladder disease 4" + }, + { + "baseId": "20015|20016|20017|20018|20019|20020|39441|39442", + "text": "Sitosterolemia 2" + }, + { + "baseId": "20021|20022|20023|20024|20026|20027|20027|20028|71266|101844|105698|105698|105701|105703|105705|105705|105708|105709|105709|105714|105715|105716|106466|106466|166161|166162|166168|166169|177015|177409|189087|191584|192516|192517|192517|192996|223641|237301|237301|238063|254909|254909|254910|254911|254912|254913|260938|267200|267809|267809|268032|268032|268143|269275|269275|269345|269345|320294|320294|320295|320298|320301|320302|320306|320307|320308|320308|328878|328878|328882|328895|328895|328899|328905|335478|335483|335484|335485|335488|335489|335489|335492|337366|337367|337367|337370|337374|337376|337376|374092|374092|374098|374098|375915|413368|418825|431773|431773|431774|431775|431776|464095|464095|482045|488964|488964|489426|489717|489718|492643|493974|493974|513343|514039|528035|528035|528037|551569|551570|551570|566290|567864|567864|568741|568743|576338|576338|578347|578511|612156|693451|693452|693453|693453|693454|702801|702803|702803|702804|702804|725612|725613|730931|730931|744800|753965|769716|779731|791387|800581|802186|802187|802188|802189|802190|802191|802247|820599|820600|820601|820602|820603|841160|841161|841162|841163|841163|841164|841165|841166|841167|841168|841169|841170|841171|841172|841173|841174|841175|841176|841177|841178|851545|851987|852728|852728|871695|871696|871697|871698|871699|871700|871701|871702|871703|871704|871704|871705|871706|871707|871708|871709|871710|871710|871711|871712|871712|871713|871714|871715|871716|871717|872359|872360|926980|926981|936540|936541|936542|936543|936544|936545|936546|936547|936548|936549|936550|940300|948461|948462|948463|948464|948465|948466|948467|948468|948469|948470|948471|948472|948473|948474|948475|957161|957162|957163|957164|957165|957166|957167|957168|960079|960080|960081|960082|960799|960800|969718|969720|969721|969722|969723|969724|969725|969726|969727|969728|969729|969730|969731|969732|970004", + "text": "Leber congenital amaurosis 6" + }, + { + "baseId": "20025|20026|20027|101844|105698|105701|105705|105705|105708|105709|105709|105715|105716|106466|106466|177015|177409|191584|192516|192517|192517|192996|213628|223641|237301|237301|254909|254909|254910|254911|254912|254913|267200|267809|267809|268032|268143|269275|269275|269345|269345|320294|320294|320295|320298|320301|320302|320306|320307|320308|320308|328878|328878|328882|328895|328895|328899|328905|335478|335483|335484|335485|335488|335489|335489|335492|337366|337367|337367|337370|337374|337376|337376|374092|374092|374098|374098|418825|431773|431774|464095|464095|482045|488964|488964|489426|489717|489718|493974|493974|528035|528035|528037|551570|566290|567864|567864|568741|568743|576338|578511|693451|693452|693453|693453|693454|702801|702803|702803|702804|702804|725612|725613|730931|730931|744800|753965|769716|779731|791387|820599|820600|820601|820602|820603|841160|841161|841162|841163|841163|841164|841165|841166|841167|841168|841169|841170|841171|841172|841173|841174|841175|841176|841177|841178|851545|851987|852728|852728|871695|871696|871697|871698|871699|871700|871701|871702|871703|871704|871704|871705|871706|871707|871708|871709|871710|871710|871711|871712|871712|871713|871714|871715|871716|871717|872359|872360|926980|926981|936540|936541|936542|936543|936544|936545|936546|936547|936548|936549|936550|940300|948461|948462|948463|948464|948465|948466|948467|948468|948469|948470|948471|948472|948473|948474|948475|957161|957162|957163|957164|957165|957166|957167|957168|960079|960080|960081|960082|960799|960800", + "text": "Cone-rod dystrophy 13" + }, + { + "baseId": "20026|24389|24392|24394|24396|24397|38391|76480|76620|100027|102552|104429|104431|104432|104433|104433|104436|104437|104440|104441|104442|104443|104445|104447|104447|104448|104451|104455|104456|104456|104456|104465|104467|104469|104471|104472|104474|104475|104476|104477|104479|104480|104480|104484|104491|104492|104492|104493|104494|104495|104497|104499|104500|104501|105486|105494|105510|105560|105683|105795|105802|105803|152779|177112|177374|191486|191862|192077|192078|192193|193626|194278|194279|195216|195217|237301|256534|267852|359259|361027|410300|418814|424378|431776|432339|438037|467672|468444|469027|469027|469226|488964|489189|493639|537666|537667|551586|569886|569892|570726|578553|584376|587851|610116|612322|626263|646841|646842|646914|676976|681856|681857|694210|694219|704421|704423|704424|704425|704426|704427|704428|715777|715781|731182|756205|756208|756209|771892|771893|771894|771918|778416|785781|788916|789897|789898|789899|789900|789901|789902|789903|789904|789905|789906|789907|789908|789909|789910|790444|790445|790446|790622|790623|790624|790625|790659|791386|791387|791388|791389|791390|791839|791840|791941|791942|846355|846356|846357|846358|846359|846360|846365|846366|846367|846369|846370|846435|846436|846437|846438|846439|846440|846441|846442|846443|846444|846445|846446|846447|846448|846449|851759|938267|938268|938269|938270|938271|938272|938273|938274|938277|938278|938279|938297|938298|938299|938300|938301|938302|938303|938304|950343|950344|950345|950348|950349|950350|950351|950368|950369|950370|950371|950372|950373|950374|950375|958342|958343|958344|958346|958347|958348|958373|958374|958375|958376|958377|960253|962924|962925|962926|962927|962928|962929|962930|962931|962932|962933|962934|962935|962936|962937|962938|962939|962940|962941|962942|962943|962944|962945|962946|962947|962948|962949|962950|962951|962952|962953|962954|962955|962956|962957|962959|962960|962961|962962|962963|962964|962965|962968|963340|971541", + "text": "Leber congenital amaurosis 1" + }, + { + "baseId": "20029", + "text": "Hypoadiponectinemia" + }, + { + "baseId": "20030", + "text": "Cerebral infarction, susceptibility to" + }, + { + "baseId": "20031|20032|20042|132007|141425|141426|141427|141428|141429|191088|192529|195407|212979|212980|212981|212982|212983|212984|212985|212987|222200|222201|241227|241232|241234|241236|244713|244717|244719|244723|244730|244731|254399|254402|254405|267186|267827|315969|315978|315979|315980|315984|315986|315988|315989|323225|323227|323228|323237|323240|323242|323247|323248|329266|329268|329269|329271|329274|329275|329279|329281|329285|329286|330434|330446|330448|330460|330489|330490|330498|372841|374513|374528|441503|461598|462170|462180|490562|503871|511955|526642|526656|566310|571201|571206|571230|656103|869228|869229|869230|869231|869232|869233|869234|869235|869236|869237|869238|869239|869240|869241|869242|869243|869244|869245|872186", + "text": "Brachyrachia (short spine dysplasia)" + }, + { + "baseId": "20031|20032|20032|20033|20034|20035|20036|20037|33470|33471|33473|33474|33476|39425|39426|39427|39428|39429|39431|39432|39433|131989|131990|131991|131992|131994|131995|131996|131997|131998|131999|132000|132001|132002|132004|132005|132006|132007|132009|132012|132013|193539|247055|267835|268588|270886|270894|271513|310812|310813|310820|310829|310830|310831|310832|310842|310844|310848|310850|310852|310858|310859|310862|310864|310866|310868|310870|310878|310884|310887|310890|310892|310895|310899|310907|310918|310919|310928|310929|310930|310931|316068|316069|316072|316073|316074|316082|316090|316094|316099|316103|316111|316112|316114|316120|316133|316144|316148|316149|316156|316162|316169|316174|316175|316176|316177|316180|316181|316189|316190|316200|316201|316204|316205|316210|316220|316221|316223|316226|322169|322170|322172|322183|322185|322190|322191|322192|322196|322197|322199|322200|322212|322213|322218|322231|322232|322233|322236|322239|322240|322241|322242|322245|322246|322254|322260|322261|322266|322267|322274|322275|322276|322780|322783|322784|322785|322786|322789|322790|322801|322802|322803|322804|322806|322807|322808|322815|322816|322822|322831|322832|322845|322849|322876|322879|322880|322882|322887|322888|322890|322891|322892|322893|322894|322896|322900|357053|360896|485947|485949|623681|623736|623780", + "text": "Skeletal dysplasia" + }, + { + "baseId": "20032|20033|20037|20038|20039|20040|20041|20042|33473|39426|39429|39430|48018|132007|141425|141426|141427|141428|141429|165507|191088|192529|195407|212979|212980|212981|212982|212983|212984|212985|212986|212987|222200|222201|222202|231824|231825|237347|241227|241228|241229|241230|241231|241232|241233|241234|241235|241236|244713|244714|244716|244717|244719|244723|244724|244726|244729|244730|244731|244732|254399|254402|254404|254405|267186|267827|268612|315969|315978|315979|315980|315984|315986|315988|315989|323225|323227|323228|323237|323240|323242|323247|323248|329266|329268|329269|329271|329274|329275|329279|329281|329285|329286|330434|330446|330448|330460|330489|330490|330498|372541|372840|372841|374513|374517|374528|374550|374553|398428|398517|398521|398522|398806|398816|398944|398946|398949|398951|408511|408513|408515|421897|433993|433994|441499|441501|441502|441503|441504|444909|461596|461598|461602|461605|461607|461814|461825|461826|461836|462170|462172|462180|462404|462407|462409|482007|486086|490562|503842|503843|503871|503872|504116|504518|511955|511956|511960|511961|526640|526642|526644|526645|526646|526647|526651|526652|526653|526656|526658|526659|526660|526663|526664|526665|526669|526896|526899|526901|526906|526913|527214|527218|527221|527223|527225|527226|527230|565036|565038|565041|566310|566311|566317|567647|567649|567653|567658|567662|571188|571197|571201|571203|571206|571208|571230|571233|571244|571249|581868|640606|640607|640608|640609|640610|640611|640612|640613|640614|640615|640616|640617|640618|640619|640620|640621|640622|640623|640624|640625|640626|640627|640628|640629|640630|640631|640632|656103|672086|684278|684281|684282|687866|687871|724880|768882|784269|792686|839270|839271|839272|839273|839274|839275|839276|839277|839278|839279|839280|839281|839282|839283|839284|839285|839286|839287|839288|839289|839290|869228|869229|869230|869231|869232|869233|869234|869235|869236|869237|869238|869239|869240|869241|869242|869243|869244|869245|872186|919405|919406|919407|920307|920308|926456|926457|926458|926459|926460|926461|926462|926463|935906|935907|935908|935909|935910|935911|935912|935913|941021|947776|947777|947778|947779|947780|947781|956744|956745|960773", + "text": "Charcot-Marie-Tooth disease axonal type 2C" + }, + { + "baseId": "20033|20034|20035|20042|33473|33474|132007|141425|141426|141427|141428|141429|191088|192529|195407|212979|212980|212981|212982|212983|212984|212985|212987|222200|222201|241227|241232|241234|241236|244713|244717|244719|244723|244730|244731|254399|254402|254405|267186|267827|315969|315978|315979|315980|315984|315986|315988|315989|323225|323227|323228|323237|323240|323242|323247|323248|329266|329268|329269|329271|329274|329275|329279|329281|329285|329286|330434|330446|330448|330460|330489|330490|330498|372841|374513|374528|426720|441503|461598|462170|462180|490562|503871|511955|526642|526656|566310|571201|571206|571230|656103|869228|869229|869230|869231|869232|869233|869234|869235|869236|869237|869238|869239|869240|869241|869242|869243|869244|869245|872186", + "text": "Spondylometaphyseal dysplasia, Kozlowski type" + }, + { + "baseId": "20033|20037", + "text": "Parastremmatic dwarfism" + }, + { + "baseId": "20036|20037|20042|33469|33470|33471|33472|33474|39427|39428|39431|39432|39433|132000|132007|141425|141426|141427|141428|141429|191088|192529|195407|212979|212980|212981|212982|212983|212984|212985|212987|222200|222201|241227|241232|241234|241236|244713|244717|244719|244723|244730|244731|254399|254402|254405|267186|267827|315969|315978|315979|315980|315984|315986|315988|315989|323225|323227|323228|323237|323240|323242|323247|323248|329266|329268|329269|329271|329273|329274|329275|329279|329281|329285|329286|330434|330446|330448|330460|330489|330490|330498|353209|356978|372841|374513|374528|441503|461598|462170|462180|490562|503871|511955|526642|526656|566310|571201|571206|571230|656103|822331|869228|869229|869230|869231|869232|869233|869234|869235|869236|869237|869238|869239|869240|869241|869242|869243|869244|869245|872186", + "text": "Metatrophic dysplasia" + }, + { + "baseId": "20037|33474|33475|33476|39425", + "text": "Spondyloepiphyseal dysplasia Maroteaux type" + }, + { + "baseId": "20038|20039|20041|20042|39429|48018|132007|141425|141426|141427|141428|141429|191088|192529|195407|212979|212980|212981|212982|212983|212984|212985|212987|222200|222201|241227|241232|241234|241236|244713|244717|244719|244723|244730|244731|254399|254402|254405|267186|267827|315969|315978|315979|315980|315984|315986|315988|315989|323225|323227|323228|323237|323240|323242|323247|323248|329266|329268|329269|329271|329273|329274|329275|329279|329281|329285|329286|330434|330446|330448|330460|330489|330490|330498|353209|372841|374513|374528|441503|461598|462170|462180|490562|503871|511955|526642|526656|566310|571201|571206|571230|656103|869228|869229|869230|869231|869232|869233|869234|869235|869236|869237|869238|869239|869240|869241|869242|869243|869244|869245|872186", + "text": "Distal spinal muscular atrophy, congenital nonprogressive" + }, + { + "baseId": "20038|20040|20041|20042|132007|141425|141426|141427|141428|141429|191088|192529|195407|212979|212980|212981|212982|212983|212984|212985|212987|222200|222201|241227|241232|241234|241236|244713|244717|244719|244723|244730|244731|254399|254402|254405|267186|267827|315969|315978|315979|315980|315984|315986|315988|315989|323225|323227|323228|323237|323240|323242|323247|323248|329266|329268|329269|329271|329273|329274|329275|329279|329281|329285|329286|330434|330446|330448|330460|330489|330490|330498|353209|372841|374513|374528|441503|461598|462170|462180|490562|503871|511955|526642|526656|566310|571201|571206|571230|656103|869228|869229|869230|869231|869232|869233|869234|869235|869236|869237|869238|869239|869240|869241|869242|869243|869244|869245|872186", + "text": "Scapuloperoneal spinal muscular atrophy" + }, + { + "baseId": "20038|20040|24157|38987|39429|70511|191531|196476|200698|208054|214089|214090|231826|236923|244863|311334|461638|511936|513441|552170|574098|611754|625144|625198|625199|625200|625206|625207|625212|625213|625214|625215|625216|625221|625224|625226|625227|625229|625230|625231|625237|625238|625239|625241|625242|625243|625247|625249|625253|625255|625256|625257|625286|625287|625288|625289|625290|625291|625293|625750|682999|683011|683037|683051", + "text": "Autosomal dominant distal hereditary motor neuropathy" + }, + { + "baseId": "20039|27395|27405|27413|27626|28302|28307|28311|28312|28316|29525|32803|39040|50121|77694|79530|133150|133152|133267|133281|134137|151478|178432|203922|226498|242984|263188|263196|263199|263201|263205|263299|263383|263387|263414|360818|360983|361713|363664|398806|402557|408516|420656|441499|444566|459906|465352|479292|480668|511956|513938|513998|513999|514018|565041|569547|590039|590051|590052|590059|590064|590065|590089|615889|792641|792642|917822", + "text": "11 conditions" + }, + { + "baseId": "20042", + "text": "Sodium serum level quantitative trait locus 1" + }, + { + "baseId": "20043|20044|20045|20046|20047|20048", + "text": "Erythrokeratodermia variabilis et progressiva 2" + }, + { + "baseId": "20049|551459|969318|969319|969320", + "text": "46,XY gonadal dysgenesis, partial, with minifascicular neuropathy" + }, + { + "baseId": "20050|20051|260443|331436|462246|463136|552293|552294|552295|552296|702337|702338|926652|936145", + "text": "46,XY sex reversal, type 7" + }, + { + "baseId": "20052|20053|20054|20055|20056|20057|20058|165647|165649|314060|314062|314063|314064|314068|314070|314071|314075|314077|314081|314087|314095|314096|314097|314098|314114|314116|320528|320529|320537|320540|320541|320550|320551|320562|320563|320568|320569|320571|320573|320574|320578|320579|320584|320585|320586|320587|320591|320593|320597|320598|320599|320611|320621|320622|320633|320635|320636|320646|326505|326514|326543|326547|326550|326551|326553|326554|326556|326564|326567|326570|326571|326579|326580|326582|326587|326589|326594|326597|326606|326607|326611|326613|326614|326615|326638|326643|326658|326659|326661|326667|326671|327548|327550|327551|327558|327559|327560|327565|327566|327567|327574|327590|327591|327592|327610|327611|327619|327621|327623|327639|327640|327656|327669|327672|620401|701767|724439|737974|737977|737979|867959|867960|867961|867962|867963|867964|867965|867966|867967|867968|867969|867970|867971|867972|867973|867974|867975|867976|867977|867978|867979|867980|867981|867982|867983|867984|867985|867986|867987|867988|867989|867990|867991|867992|867993|867994|867995|867996|867997|867998|867999|868000|868001|868002|868003|868004|868005", + "text": "Parietal foramina 2" + }, + { + "baseId": "20059|165648|188208|227446|361726|578491", + "text": "Frontonasal dysplasia 2" + }, + { + "baseId": "20060|20061|27640|28939|29005|204981|204982|204983|551403|919462", + "text": "Thyroid cancer, nonmedullary, 2" + }, + { + "baseId": "20062", + "text": "Thyroid adenoma (disease)" + }, + { + "baseId": "20063|359552|360867", + "text": "Increased IgE level" + }, + { + "baseId": "20064|20065|44798|44799|317089|317097|317111|317112|317114|317117|317119|317121|324838|324841|324849|324850|324851|324855|324899|330944|330946|330951|330952|330960|330962|331027|332428|332431|332436|332452|332453|332459|332462|332466|332473|332563|577261|738637|869801|869802|869803|869804|869805|869806|869807|869808|869809|869810|869811|869812|869813|869814|869815|869816|869842|869843|869844|869845|872242", + "text": "Autosomal dominant hypophosphatemic rickets" + }, + { + "baseId": "20066|20385|22830|22831|22832|22833|22834|22835|22836|22837|22838|22839|22840|22841|22842|192386|282414|282415|282421|282426|282428|283097|283100|283101|283103|283104|283105|283106|283107|284674|284687|284700|284701|284703|285130|285138|285139|285151|285152|285158|285159|437705|437706|552053|610988|697129|707819|707820|791342|881305|881306|881307|881308|881309|881310|881311|881312|881313|881314|881315|881316|881317|881318|881319|881320|881321|882820|882821|920603", + "text": "Hyperphosphatemic familial tumoral calcinosis 1" + }, + { + "baseId": "20066|20067|20068|317089|317097|317111|317112|317114|317117|317119|317121|324838|324841|324849|324850|324851|324855|324899|330944|330946|330951|330952|330960|330962|331027|332428|332431|332436|332452|332453|332459|332462|332466|332473|332563|577261|738637|869801|869802|869803|869804|869805|869806|869807|869808|869809|869810|869811|869812|869813|869814|869815|869816|869842|869843|869844|869845|872242|919432", + "text": "Tumoral calcinosis, hyperphosphatemic, familial, 2" + }, + { + "baseId": "20066|213620|282435|283098|285137|317102|317118|319404|324857|324859|330949|332440|332445", + "text": "Tumoral calcinosis, hyperphosphatemic, familial" + }, + { + "baseId": "20069|20070|20072|20073|20074|20075|20076|20077|134577|167388|167392|167397|231987|245008|245009|255895|255896|255897|260130|273694|326427|326428|326432|326439|326440|326444|326447|326448|326450|326451|326453|326454|326456|326458|326460|336169|336170|336171|336176|336177|336179|336183|336184|336186|336187|336191|336194|336197|336198|336199|336208|336209|336211|336221|336222|336224|336225|336229|342431|342433|342435|342443|342446|342449|342450|342451|342454|342456|342457|342458|342459|342460|342462|342463|342465|344079|344081|344083|344084|344087|344088|344089|344090|344091|344092|344093|344099|344100|344102|344103|344116|344119|344122|344124|344126|344130|361521|375489|375682|415513|466024|466032|466035|466036|466038|466757|466758|466762|466763|466778|466794|466798|466802|467038|467046|467047|467067|467069|506512|512228|530309|530312|530313|530315|530371|530372|530381|530383|530400|530402|530569|530571|530573|530575|530577|530581|530792|530794|537264|552190|568377|568387|568391|568399|568402|570504|570506|570508|570511|570558|570559|570561|570564|570571|570572|570660|574175|574176|574177|574178|581728|590028|622435|625316|625317|625318|625319|625320|625321|625322|625323|625324|625325|625326|625327|625328|625329|625330|625331|625333|625334|625335|625336|625337|625338|625339|625340|625341|625342|625343|625344|625345|625346|625347|625348|625350|625351|625352|625354|625355|625356|625357|625358|625359|625360|625760|625761|645009|645010|645011|645012|645013|645014|645015|645016|645017|645018|645019|645020|645021|645022|645023|645024|645025|645026|645027|645028|645029|652757|653065|677453|688666|693935|693937|693938|693939|715097|715098|760518|771079|780051|785390|785392|820887|844368|844369|844370|844371|844372|844373|844374|844375|844376|844377|844378|844379|844380|844381|844382|844383|844384|844385|844386|844387|851683|852831|861664|876008|876009|876010|876011|876012|876013|876014|876015|876016|876017|876018|876019|876020|876021|876022|876023|876024|876025|876026|876027|876028|876029|876030|876031|876032|876033|876034|876722|927965|927966|927967|937629|937630|937631|937632|941146|941147|949595|949596|949597|949598|949599|949600|949601|957888|957889|957890|957891|957892|957893|957894", + "text": "Giant axonal neuropathy 1" + }, + { + "baseId": "20078|20079|20080|20081|20083|20084|20085|20086|20087|133700|133701|198632|260025|260027|260029|317931|317932|317936|317940|317944|317946|317949|317953|325845|325871|325873|325875|325876|325879|325880|325881|332094|332097|332098|332100|332101|332102|333560|333563|333564|333566|333567|333582|333586|333590|417444|611346|620445|620850|626315|753483|784425|870160|870161|870162|870163|870164|870165|870166|870167|870168|870169|872265|872266|872267", + "text": "Glucocorticoid deficiency with achalasia" + }, + { + "baseId": "20084|20699|33187|51184|360842|360970|360971|361043|402131|676961|961430|962129|962130|964663", + "text": "Spastic paraparesis" + }, + { + "baseId": "20084", + "text": "Babinski sign" + }, + { + "baseId": "20084|360839", + "text": "Hyperreflexia" + }, + { + "baseId": "20088|76537|76538|76539|134349|185799|185800|185801|185802|185803|185804|185805|185806|185807|185808|185809|185810|185811|185812|185813|185814|185815|185816|185817|185818|185819|185820|185821|185822|185823|185824|185825|185826|185827|185828|185829|185830|185831|185832|185833|185834|185835|185836|185837|185838|185839|185840|185841|185842|185843|185844|185845|185846|185847|185848|185849|185850|185851|185852|185853|185854|185855|185856|185857|185858|185859|185860|185861|185862|185863|185864|185865|185866|185867|185868|185869|185870|185871|185872|185873|185874|185875|185876|185877|185878|185879|185880|185881|185882|185883|185884|185885|185886|185887|185888|185889|185890|185891|185892|185893|185894|185895|185896|185897|185898|185899|185900|185901|185902|185903|185904|185905|185906|185907|185908|185909|185910|185911|185912|185913|185914|185915|185916|185917|185918|185919|185920|185921|185922|185923|185924|185925|185926|185927|185928|185929|185930|185931|185932|185933|185934|185935|248728|248729|361889|513663|514402|514404|514405|514406|514407|514409|514410|514411|514412|578567|612332|622467|626278|794185|794186|794187|794188|794189|799034|799035|799036|799037|799038|799039|799040|799041|799042|799043|799044|799045|799046|799047|799049|799050|799051|799052|799053|799054|799055|799056|799057|799058|799059|799060|799061|799062|799063|799064|799065|799066|799067|799068|799069|799070|799071|799072|799073|799074|799075|799076|799077|799095|961918|961920", + "text": "Steinert myotonic dystrophy syndrome" + }, + { + "baseId": "20089|20090|94574|133876|133881|133882|133883|133884|133885|133886|133887|133889|133890|133894|133895|208686|208689|208692|208693|208697|208699|335713|335719|335723|335725|335731|335734|335737|335739|335741|335744|335748|335750|335752|335755|335759|335761|335764|335765|335766|335770|335778|335780|345457|345461|345463|345467|345468|345470|345472|345474|345479|345481|345483|345485|345486|350079|350082|350084|350085|350086|350087|350089|350091|350092|350094|350097|350098|350100|350101|350104|350107|350109|351120|351121|351124|351125|351128|351129|351132|351135|351136|351139|351143|351145|351146|351149|430342|430351|430352|430358|578576|728707|786399|791985|791986|886233|886234|886235|886236|886237|886238|886239|886240|886241|886242|886243|886244|886245|886246|886247|886248|886249|886250|886251|886252|886253|886254|886255|886256|886257|886258|886259|886260|886261|886262|886263|886264|886265|886266|886267|886268|886269|886270|886271|886272|886273|886274|886275|886276|886277|887469|887470|887471|887472|919916|971145", + "text": "Heterotopia, periventricular, autosomal recessive" + }, + { + "baseId": "20094|20095|20096|20097|20098|227386", + "text": "Prostate cancer, hereditary, 2" + }, + { + "baseId": "20094|20095|20096|20097|20098|76941|76942|76943|76944|222556|222557|227386|237324|242582|242583|242584|242587|242588|242590|242591|242592|242593|374843|374845|375729|375937|375948|378059|378065|401533|401537|401538|401539|401540|401541|401547|401998|401999|402253|402259|466341|467099|467101|467274|467277|467278|467280|467411|467418|467424|467425|467426|481140|481370|481371|481372|530743|530745|552199|568688|568690|568702|568704|570759|570763|574303|574304|645309|645310|645311|645312|645313|645314|645315|645316|684657|684658|684659|684660|684661|688739|688743|690166|715247|726986|778446|785465|788904|844708|844709|844710|844711|844712|844713|844714|844715|844716|844717|852691|928060|928061|928062|928063|928064|937725|940383|949705|957983|957984|957985|957986|960869", + "text": "Combined oxidative phosphorylation deficiency 17" + }, + { + "baseId": "20099|282774|282779|282782|282796|282800|282801|282803|282810|283594|283595|283596|283597|283599|283600|283610|283613|283614|283617|283618|283619|285118|285128|285131|285132|285133|285134|285140|285143|285148|285625|285628|285629|285638|285641|285642|285644|285646|285650|285651|285652|513248|551695|558911|559394|628988|628989|628990|650879|650881|707849|719407|778877|788743|825209|825210|881530|881531|881532|881533|881534|881535|881536|881537|881538|881539|881540|881541|881542|881543|881544|881545|881546|881547|882843|882844|918695|952786", + "text": "Cerebral palsy, spastic quadriplegic, 1" + }, + { + "baseId": "20100|20101|508751", + "text": "Metabolic syndrome, susceptibility to" + }, + { + "baseId": "20100|20102|22032|23175|23178|23861|24726|27024|28628|28629|29357|29358|29363|29368|29369|29370|29375|29459|32735|32780|45128|45129|45130|45145|45146|45147|45148|45149|45150|48278|135465|192092|203022|206995|208462|215036|215037|256718|263264|285610|285611|285622|285624|285631|286339|286340|288404|288413|288431|288432|288642|289041|289047|289053|289177|292190|292296|292303|292305|292306|292310|299023|332144|332444|342314|342316|342318|342320|347738|347739|347743|349098|349106|349111|384510|405689|428113|430074|430075|430076|430078|443218|485790|485791|485792|485793|490887|495097|514170|514218|514853|540034|550209|550210|553408|553540|577690|583084|590038|610521|619912|619913|619914|619915|619916|619917|620939|719788|727763|733372|756500|788855|800415|800416|800417|879673|879674|879675|879676|879677|879678|879679|879680|879681|879682|879683|879684|879685|879686|879687|879688|879689|879690|879691|879692|884457|884458|884459|884460|884461|884462|884463|884464|884465|884466|887759|887767|887768|887769|887770|918796|964342|964502|970013|971396", + "text": "Obesity" + }, + { + "baseId": "20101", + "text": "Obesity, age at onset of" + }, + { + "baseId": "20103", + "text": "GHRELIN POLYMORPHISM" + }, + { + "baseId": "20104", + "text": "Hemolytic uremic syndrome, atypical, susceptibility to" + }, + { + "baseId": "20104", + "text": "Age-related macular degeneration" + }, + { + "baseId": "20105|33313", + "text": "Hypertension, salt-sensitive essential, susceptibility to" + }, + { + "baseId": "20106|20107|101502|101506|101507|101508|101509|101511|177726|177727|192457|206559|237125|244037|244038|244039|244041|244042|244043|244044|244045|244046|244047|244048|244049|244050|244051|244052|244053|244054|244055|244056|244057|244058|244059|244060|244061|244062|301505|301506|301510|301512|301516|301517|301526|301531|301533|301535|301537|301541|301543|301544|301546|301548|301570|301571|301575|301579|301581|301582|301583|301587|301594|304775|304776|304778|304789|304791|304802|304806|304811|304814|304819|304833|304840|304847|304849|304852|304855|304857|304866|304868|309376|309377|309389|309390|309394|309395|309398|309399|309400|309409|309412|309415|309423|309424|309425|309429|309439|309442|309512|309523|309525|309536|309538|309540|309541|309543|309545|309546|309549|309552|309554|309556|309559|309567|309569|309574|309589|309594|424654|579317|579460|609022|609195|609196|609201|611396|798581|897256|897257|897258|897259|897260|897261|897262|897263|897264|897265|897266|897267|897268|897269|897270|897271|897272|897273|897274|897275|897276|897277|897278|897279|897280|900304|900305", + "text": "Speech-language disorder 1" + }, + { + "baseId": "20108|20109|265637|267757|268455|508782|614083|614084|614085|790215|969294|970738", + "text": "Chromosome 2q37 deletion syndrome" + }, + { + "baseId": "20110|20111|20114|20115|20116|20117|193668|326335|326339|326340|326341|326345|326348|326349|326351|326352|326354|326355|326357|326361|326363|326366|326368|326370|326375|326376|326379|326381|326383|326392|326394|326395|326396|326410|326417|326418|336066|336068|336072|336073|336083|336084|336087|336090|336100|336102|336104|336105|336108|336121|336122|336127|336128|336130|336136|336137|336141|336142|336143|336145|336146|336148|336149|336150|336157|342337|342340|342345|342350|342351|342353|342354|342357|342358|342359|342360|342363|342365|342366|342367|342368|342371|342377|342384|342385|342388|342399|342401|342402|342406|342408|342409|342415|342417|343959|343960|343961|343962|343964|343966|343967|343970|343971|343972|343976|343978|343980|343981|343994|343995|343998|344006|344008|344010|344011|344016|344018|344019|344025|344031|344035|344037|344040|344041|344042|466700|538455|620561|620562|620563|703814|715075|715076|726792|875944|875945|875946|875947|875948|875949|875950|875951|875952|875953|875954|875955|875956|875957|875958|875959|875960|875961|875962|875963|875964|875965|875966|875967|875968|875969|875970|875971|875972|875973|875974|875975|875976|875977|875978|875979|875980|875981|875982|875983|875984|875985|875986|875987|875988|875989|875990|875991|875992|875993|875994|875995|875996|875997|875998|875999|876000|876001|876002|876003|876004|876005|876006|876007|937599", + "text": "Macular corneal dystrophy" + }, + { + "baseId": "20112|20113|20114|20118", + "text": "Macular corneal dystrophy, type II" + }, + { + "baseId": "20119|20120|20121|20122|20123|20124|20125|20126|20127|20131|34379|59852|59852|76663|101605|101606|101608|101613|101614|101618|101619|101620|101621|101622|101623|101624|101626|101628|101630|142273|142274|177896|190550|192676|210977|210978|210984|210996|211003|211011|213549|214497|214498|214499|214500|289727|289728|289729|289734|289738|289739|289746|289758|289760|289769|289770|289776|289778|289784|289793|289795|289800|289802|290531|290532|290533|290534|290535|290537|290541|290542|290543|290562|290563|290572|293645|293646|293648|293654|294183|294184|294184|294185|294187|294190|294191|294192|294193|294194|294195|294196|294197|367279|367301|367306|367344|414928|425539|443403|500414|587194|790375|790376|790377|790378|790379|790380|888560|888561|888562|888563|888564|888565|888566|888567|888568|888569|888570|888571|888572|888573|888574|888575|888576|888577|888578|888579|888580|888581|888582|888583|888584|888585|888586|888587|888588|888589|891631|891632|961599|964220|964221|965930", + "text": "Dominant hereditary optic atrophy" + }, + { + "baseId": "20121|59852|59852|210979|227007|227008|227009|294184|493528|918822|918823|918824|918825|961599", + "text": "Abortive cerebellar ataxia" + }, + { + "baseId": "20129|20130|20131|39417|39418|39419|39420|59852|198617|210979|227006|294184|428165|679822|961599|970142", + "text": "Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy" + }, + { + "baseId": "20135", + "text": "Polycystic ovary syndrome, susceptibility to" + }, + { + "baseId": 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+ "text": "Tuberous sclerosis 1" + }, + { + "baseId": 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+ "text": "Tuberous sclerosis syndrome" + }, + { + "baseId": "20138|20142|27435|27436|50125|50126|50129|50130|50133|50133|50134|50135|50137|50139|50163|50179|57898|57899|57913|57914|57927|57930|57932|57944|57958|57983|58047|58093|58134|58145|58146|58168|58170|58177|58181|58186|58215|58229|58233|58234|58245|58633|58684|58805|59092|59105|59293|75649|75656|75666|75668|75669|75679|75693|75701|75711|75743|75745|75761|75772|76006|76128|141430|141433|141434|151413|151694|166563|182909|182914|182921|184112|202466|202475|202497|203117|203163|240476|240477|240485|240498|240500|240502|240510|242231|242299|242315|253371|307194|307195|307204|307205|307210|307212|307221|307222|307230|307235|307244|307245|307248|307252|307254|307255|307259|307260|307264|307266|307267|307268|307272|307280|307281|307286|311362|311377|311378|311379|311380|311382|311385|311390|311391|311392|311394|311396|311418|311428|311439|311440|311453|311454|311459|311460|311464|311465|311473|311476|311477|311480|311481|311482|311487|311488|311496|311497|311498|311504|311505|311506|311508|311509|311510|311511|311515|316930|316941|316956|316958|316960|316965|316966|316985|316989|316990|316997|316998|317003|317004|317005|317012|317014|317017|317018|317023|317024|317025|317027|317031|317032|317033|317034|317055|317056|317057|317063|317065|317352|317355|317360|317366|317371|317373|317374|317381|317383|317384|317403|317405|317406|317419|317425|317426|317427|317434|317436|317437|317438|317442|317443|317444|317449|317457|317459|317464|317467|317468|317475|317476|317477|317480|317490|317503|317505|317506|317507|317509|317512|317519|317528|342264|353851|353852|363008|363009|364161|370767|390746|396521|396938|397181|400793|400979|401383|401474|404624|404625|404628|404632|404633|422079|459143|465350|465841|465939|466003|474886|529560|529578|529973|539064|563637|569681|575484|614337|614413|614414|614415|614416|614417|614418|637848|687391|687392|816331|816332|816333|821822|901273|901274|901275|901276|901277|901278|901279|901280|901281|901282|901283|901284|901285|901286|901287|901288|901289|901290|901291|901292|901293|901294|901295|901296|901297|901298|901299|901300|901301|901302|901303|901304|901305|901306|901307|901308|901309|901310|901311|901312|901313|901314|901315|901316|901317|901318|901319|901320|903331|906341|918542|918543|918544|964319|964685", + "text": "Focal cortical dysplasia type II" + }, + { + "baseId": "20141|27432|27435|27435|27436|27436|27439|27441|50133|50139|50179|50187|50187|57953|57958|58047|58133|58168|58178|58208|58245|58280|58324|58324|58374|58426|58434|58530|58548|58564|58633|58666|58668|58684|58701|58735|58784|58805|58843|58846|58847|58899|58930|58980|59057|59077|59085|59092|59099|59105|59113|59119|59193|59203|59249|59293|59301|59308|59334|76006|76049|76066|76103|76128|76133|76156|76161|76206|151694|184112|203109|203117|203163|242231|242299|242310|342264|360985|360986|397181|400793|400979|401383|401474|401549|422079|459111|465350|465841|465939|466003|474886|529560|529578|529973|539064|569681|614337|614413|614414|614415|614416|614417|614418|816331|816332|816333|919194|919195|919615|919616|919617|919618|920352|920353|920354|920355", + "text": "Lymphangiomyomatosis" + }, + { + "baseId": "20142", + "text": "Focal cortical dysplasia of Taylor type 2B" + }, + { + "baseId": "20145|31559", + "text": "Venous thrombosis, susceptibility to" + }, + { + "baseId": "20147", + "text": "Abnormality of carbohydrate metabolism/homeostasis" + }, + { + "baseId": "20158|512867|512952|539067|715151", + "text": "Huntington disease-like 2" + }, + { + "baseId": "20159|20160|136545|142136|142137|186089|212631|215728|221754|221755|240234|244509|253060|304377|304394|304399|304405|304406|304416|304420|308109|308110|308128|308130|308131|308140|308146|308147|313131|313140|313142|313152|313153|313161|313166|313171|313173|313189|313191|313192|313197|313205|313208|313217|313218|313227|313228|313229|313233|313234|313235|313237|313246|313255|369372|369375|369726|395913|395915|441171|457231|502296|502593|523291|523299|523642|561956|564664|636612|677279|683978|683979|687189|687193|689906|695378|789373|898990|898991|898992|898993|898994|898995|898996|898997|898998|898999|899000|899001|899002|899003|899004|899005|899006|899007|899008|899009|899010|899011|899012|899013|899014|899015|899016|899017|981615", + "text": "Charcot-Marie-Tooth disease, type 4D" + }, + { + "baseId": "20161|20162|20163|20164|20165|20166|20167|20168|20169|44320|44321|132549|132550|132551|132552|254729|254730|266805|318530|318531|318532|318536|318537|318552|318553|326720|326736|326737|326738|326740|326751|326755|326756|332928|332930|332932|332934|332939|332941|332949|332956|334605|334606|334613|334621|334623|334625|334626|334628|334629|334635|372576|462499|463236|463240|487616|527904|527907|565730|567072|568175|572071|609861|641399|641400|641401|641402|652271|713768|791279|792789|820524|840302|840303|840304|840305|840306|870473|870474|870475|870476|870477|870478|870479|870480|870481|870482|870483|870484|870485|870486|870487|870488|870489|870490|872294|926740|926741|936276|948170|948171|956954", + "text": "Hyper-IgM syndrome type 2" + }, + { + "baseId": "20170|20171|20172|20173|20174|20175|20176|20177|20178|204283|204284|204285|204286|204287|204288|204289|204290|204291|204292|204293|204294|204295|204296|204297|204298|204299|204300|204302|204303|204304|243561|257261|257262|265656|267414|269158|272480|273198|334667|334672|334673|334681|334683|334689|334691|344507|344513|344516|349542|349549|349550|349553|349554|349557|349558|350551|350552|350555|350556|350558|350561|350562|350565|350570|350576|353531|353532|358621|358622|358623|358624|358625|358626|358627|358628|358629|358630|410721|415671|469303|470825|471325|487835|532832|548885|548887|548889|548953|548955|548961|548965|548967|549209|549210|549379|549380|549796|549799|575064|575065|612359|648517|648518|648519|705333|716765|716766|716767|716768|728483|728485|731317|731318|742196|742197|742198|742201|742203|742204|745105|757327|757329|757331|757332|757333|757334|757335|757336|760765|760930|772952|772955|772956|772957|772958|772959|772960|772961|772962|772963|772966|772967|776640|776761|776919|786306|786307|786308|786309|786311|786312|788334|798923|801739|801740|801741|816417|848129|848130|858727|882679|882680|882681|882682|882683|882684|882685|882686|882687|882688|882689|882690|882691|882692|882693|882694|882956|882957|882958|882959|882960|882961|882962|882963|929123|958755|958756|958757|960929|979992|979993|979994|979995|979996", + "text": "Mucolipidosis type IV" + }, + { + "baseId": "20179|20180|20181|20182|20182|20183|20184|20185|20185|20187|20188|48026|48026|48027|48028|54592|54593|54594|57135|57138|57139|57140|57141|57144|57154|57157|57157|57158|57159|57160|57161|57162|57162|57165|57166|57166|57167|57168|57170|57171|57173|57174|57176|57178|57179|57182|57182|57183|57185|57187|57189|89181|97446|175675|175676|175676|175678|175679|175679|175683|175685|175686|175687|175688|175813|175815|175825|175826|175827|175828|191397|193578|195346|214845|230023|230025|230025|230026|230027|230031|230032|230033|230035|230036|230036|238049|254070|269355|313423|313426|313427|313432|313458|319529|319530|319531|319552|325666|325667|325674|325676|325679|325683|325686|325691|325699|325709|325739|326704|326707|326722|326730|326732|357961|357962|413306|431752|431753|444756|491719|491837|492015|497372|497592|545944|545946|545948|545949|545958|545960|545961|545962|545963|545964|545968|545970|545971|545973|545973|545987|546222|546222|546224|546225|546234|546238|546241|546242|546244|546247|546255|546255|546256|546258|546265|546266|546352|546359|546360|546362|546364|546370|546373|546376|546380|546383|546384|546386|546388|546390|546396|546405|546406|546407|546409|546529|546532|546533|546543|546551|546555|546557|546559|546562|546575|546579|546584|546588|546592|546602|546608|546610|546615|546616|546623|546624|546626|737895|752588|752591|768357|768361|775646|783958|783961|838138|838144|867636|867637|867638|867639|867640|867641|867642|867643|867644|867645|867646|867647|867648|867656|867666|867667|868630|868631|868632|978950|978951|978952|978953|978954|978955|978956|978957|978958|978959|978960|978961|978962|978963|978964|978965|978966|978967", + "text": "Usher syndrome, type 1C" + }, + { + "baseId": "20180|20182|20182|20185|20185|20186|20187|48026|48026|57144|57154|57157|57158|57162|57165|57166|57168|57173|57174|57182|57183|89181|97446|175676|175678|175679|175683|175687|175813|191397|193578|230023|230025|230026|230027|230031|230033|230035|230036|238049|357961|357962|389918|413306|431752|431753|444756|491837|545944|545946|545948|545949|545958|545960|545961|545962|545963|545964|545968|545970|545971|545973|545987|546222|546224|546225|546234|546238|546241|546242|546244|546247|546255|546256|546258|546265|546266|546352|546359|546360|546362|546364|546370|546373|546376|546380|546383|546384|546386|546388|546390|546396|546405|546406|546407|546409|546529|546532|546533|546543|546551|546555|546557|546559|546562|546575|546579|546584|546588|546592|546602|546608|546610|546615|546616|546623|546624|546626|590301|615813|615840", + "text": "Deafness, autosomal recessive 18" + }, + { + "baseId": "20189|20190|20191|20192|20193|20194|20195|20196|20197|20198|252627|252628|252629|252631|252632|301965|301967|301968|301970|301971|301977|301984|301986|301990|305095|305131|305143|305144|305153|305157|305158|305159|305160|305162|305164|305167|305170|305177|309792|309812|309813|309814|309816|309817|309838|309839|309840|309853|309874|309955|309962|309967|309972|309986|309987|309995|309996|369507|539006|612089|620252|620253|623297|699869|699870|710803|735973|750443|759551|790696|790697|790698|790699|897521|897522|897523|897524|897525|897526|897527|897528|897529|897530|897531|897532|897533|897534|897535|897536|897537|897538|897539|897540|897541|897542|897543|897544|897545|900314|900315|900316|900317|900318|900319|961850|965422", + "text": "Renal tubular acidosis, distal, autosomal recessive" + }, + { + "baseId": "20200|20201|20207|34122|70494|70494|141625|141626|141627|141628|141629|141630|141631|188834|191829|191830|191830|192686|192686|192995|193140|244839|254719|254728|254731|254732|254765|254766|254767|254768|254769|268249|268249|270757|273981|273981|273982|273982|318487|318488|318490|318492|318497|318498|318498|318565|318565|318567|318567|318596|318611|318612|318612|318615|318615|318618|318618|318621|318621|318629|318629|318630|318630|318631|318633|318634|318634|318639|318642|318656|318662|318672|318673|318676|318677|318678|318682|318683|318691|318692|326629|326631|326632|326634|326635|326636|326639|326642|326642|326669|326717|326717|326765|326765|326770|326770|326774|326789|326791|326914|326916|326921|326921|326937|326937|326943|326943|326954|326959|326960|326971|326973|326975|326980|326981|326986|326988|326989|326990|332870|332875|332878|332881|332882|332882|332917|332917|332957|332957|332958|332972|332981|332985|333004|333004|333007|333009|333009|333010|333010|333011|333015|333015|333016|333016|333017|333017|333018|333019|333019|333020|333052|333054|333086|333103|333107|334541|334547|334550|334551|334554|334563|334565|334600|334600|334602|334602|334638|334638|334640|334640|334644|334644|334645|334645|334646|334646|334703|334703|334707|334709|334711|334711|334722|334722|334724|334726|334726|334732|334739|334739|334766|334766|334772|334773|334773|334777|334789|334792|334794|334801|334802|334806|360111|413333|434048|445090|462466|462468|462497|462501|462521|462526|462527|462532|462534|462536|462727|462761|462773|462775|462782|462783|462786|462792|462794|463211|463212|463234|463252|463269|463270|463272|463277|463278|463281|463282|463285|463288|463333|463340|463342|463346|463370|463380|463387|463392|463392|463394|463397|463397|463400|463405|491926|493532|505053|527206|527340|527343|527351|527360|527365|527365|527366|527366|527381|527382|527384|527387|527390|527398|527402|527404|527411|527412|527413|527414|527417|527420|527422|527424|527424|527426|527652|527658|527661|527663|527665|527667|527668|527676|527679|527684|527698|527703|527884|527898|527913|527915|527945|527946|527954|527954|565030|565725|565725|565733|565736|565741|565750|565751|565763|565766|565768|565769|565771|566292|567060|567061|567069|567074|567087|567091|567091|568173|568178|568181|568190|568191|568195|568196|568201|568202|572074|572075|572075|572084|572103|572104|572120|572126|572132|572134|572139|572142|572142|572145|578505|582661|612964|641386|641387|641388|641398|641403|641404|641405|641406|641407|641408|641409|641410|641411|641412|641413|641436|641437|641438|641447|641448|641449|641459|641460|641462|641463|641465|641466|641467|641470|641471|641474|641475|641477|641478|641479|641481|641482|641488|641489|641490|641491|641492|641493|641494|641495|641496|641497|641498|641499|641500|641501|641502|641503|652502|652739|688056|693283|693284|693285|693291|693292|693300|693305|693308|693309|702530|702540|702541|725312|738886|753644|769304|769338|769342|769356|799730|820519|820522|820523|820525|840270|840271|840272|840273|840274|840274|840275|840276|840301|840307|840308|840309|840310|840311|840312|840313|840314|840315|840316|840317|840318|840319|840320|840321|840322|840323|840324|840325|840326|840327|840328|840329|840330|840331|840332|840333|840334|840335|840336|840337|840338|840339|840340|840341|840401|840402|840407|840408|840413|840414|840415|840417|840418|840423|840424|840425|840427|840428|840429|840435|840436|840437|840444|840444|840445|840446|840447|840448|840449|840450|840451|840452|840453|870445|870446|870447|870448|870449|870450|870451|870452|870452|870491|870492|870493|870521|870522|870523|870524|870525|870526|870527|870528|870529|870530|870531|870532|870533|870534|870535|870536|870537|870538|870539|870540|870541|870542|870543|870544|870545|870546|870547|870548|870549|926731|926732|926733|926734|926735|926739|926742|926743|926744|926745|926746|926747|926748|926749|926750|926751|926766|926768|926772|926773|926776|926777|926780|926781|926782|926783|926784|936262|936263|936264|936275|936277|936278|936279|936280|936281|936282|936283|936305|936306|936308|936310|936313|936314|936315|941041|941042|948159|948169|948172|948173|948174|948175|948176|948177|948178|948227|948228|948235|948236|956940|956941|956955|956956|956957|956958|956959|956960|956992|956995|957001|960059|960060", + "text": "Pseudohypoaldosteronism type 2C" + }, + { + "baseId": "20211", + "text": "SCHIZOPHRENIA 9, SUSCEPTIBILITY TO" + }, + { + "baseId": "20212|20213|20214|20215|101183|101184|101185|141240|141241|141242|141243|141244|141245|141246|177764|177765|178709|188633|188635|188636|188637|188641|188643|195986|242112|270849|361763|361764|361765|361766|400342|400850|465286|465384|490836|504948|529625|567254|573509|573513|573513|656304|688486|842675|874091|874092|874093|874094|874095|874096|874097|874098|874099|874100|874101|874102|874103|874104|874105|874106|874107|874108|874109|874110|874111|874112|874113|874114|874115|874116|874117|874118|874119|874120|874121|874122|874123|874124|874125|874126|874127|874128|874129|874130|874131|874132|874133|874134|874135|874136|874137|874138|876566", + "text": "Sick sinus syndrome 2, autosomal dominant" + }, + { + "baseId": "20216|101182|101183|101185|141241|141244|141245|141246|177151|177764|177765|177766|178709|188624|188625|188626|188627|188628|188629|188630|188631|188632|188633|188635|188636|188637|188639|188640|188641|188642|188643|188643|188645|188646|189358|189359|189360|189362|189363|189364|194414|195979|195980|195981|195982|195985|195986|195987|195988|222432|224510|242109|242110|242111|242112|242113|242114|242115|242116|242117|242118|258952|258953|258960|267586|270849|271171|271300|271760|272719|273510|275371|361765|373671|373674|373683|373684|374298|374305|374306|374309|374721|374730|376624|376638|376639|376643|376663|400331|400332|400341|400342|400343|400344|400363|400479|400482|400486|400490|400492|400496|400508|400509|400815|400817|400822|400823|400829|400845|400850|400851|400853|401174|401179|401181|401184|401191|401193|401195|401198|401205|401206|409343|413406|415447|426120|441754|441755|464500|464501|464503|464508|464511|464515|465141|465144|465145|465157|465159|465162|465164|465276|465279|465280|465283|465286|465286|465288|465297|465299|465301|465369|465376|465384|465391|465395|465397|465402|465407|465409|465412|482075|490836|493884|504938|504941|505152|505159|510666|510667|510668|510669|510677|510680|510681|510682|510684|529024|529028|529033|529035|529037|529038|529040|529044|529046|529102|529103|529105|529108|529114|529428|529443|529445|529448|529621|529625|529631|529632|529641|529643|529647|529650|529652|529655|529658|551789|551790|567243|567248|567254|567254|567259|567261|567263|567268|567271|567273|567278|567281|567283|569115|569118|569130|569140|569141|569150|569594|569595|569597|573509|573510|573511|573513|573513|573517|573520|573524|573526|573529|573533|573534|573535|573536|587012|623076|643523|643524|643525|643526|643527|643528|643529|643530|643531|643532|643533|643534|643535|643536|643537|643538|643539|643540|643541|643542|643543|643544|643545|656301|656303|680055|684556|684557|688484|688485|688486|688487|688488|688492|688493|693737|693738|693740|695659|703319|770328|770332|770333|785003|785004|785006|785009|797194|820733|842668|842669|842670|842671|842672|842673|842674|842675|842676|842677|842678|842679|842680|842681|842682|842683|842684|842685|842686|842687|842688|842689|842690|842691|842692|842693|842694|842695|842696|842697|842698|842699|842700|842701|842702|842703|842704|842705|927411|927412|927413|927414|927415|927416|927417|927418|927419|927420|927421|927422|927423|927424|937054|937055|937056|937057|937058|937059|937060|937061|937062|937063|937064|937065|937066|937067|937068|937069|937070|937071|937072|949002|949003|949004|949005|949006|949007|949008|949009|949010|949011|957498|957499|957500|957501|957502|957503|957504|957505|957506|957507|957508|957509|957510", + "text": "Brugada syndrome 8" + }, + { + "baseId": "20216|29190|44292|44801|45342|45426|45428|49116|53516|54242|54748|55691|55936|56038|56180|56291|56323|56440|56493|56495|56634|56805|57458|78464|78466|78482|78699|140876|141245|141502|141530|153685|171122|173867|175861|178572|178581|178584|178601|178654|178658|188357|189319|189364|189539|193356|196544|224258|224321|224346|224448|224511|224515|229491|240190|241821|259063|293513|301509|359753|374980|395893|462084|514088|679378|679400|679414|679422|679426|679450|679454|679479|679480|858248|965299", + "text": "Ventricular tachycardia" + }, + { + "baseId": "20217|20218", + "text": "Hypercalciuria, absorptive, susceptibility to" + }, + { + "baseId": "20219|20220|20221|33477|33905|172165|253321|253324|263828|263829|263830|263831|307031|307032|307034|307036|307040|307042|307043|307045|307046|307048|311145|311150|311152|311158|316756|316758|316759|316760|316771|316778|316779|316780|316783|317161|317174|317175|317178|317182|317201|396871|550616|684053|684055|805015|901173|901174|901175|901176|901177|901178|901179|901180|901181|901182|901183|901184|903321", + "text": "Dystonia 1" + }, + { + "baseId": "20219", + "text": "Dystonia-1, torsion" + }, + { + "baseId": "20220", + "text": "Dystonia, early-onset atypical, with myoclonic features" + }, + { + "baseId": "20221", + "text": "Dystonia 1, torsion, modifier of" + }, + { + "baseId": "20222|20223|20224|20225|47509|47510|47511|47512|47513|47514|255413|255414|255415|255417|255421|255422|255423|255424|269087|323574|323576|323580|333305|340063|340067|341505|341509|341510|341514|341520|341522|341524|341525|341528|341535|547623|547624|547626|547627|547628|547630|547633|547635|547637|547648|547663|547664|547666|547877|547882|547883|547893|547897|547899|547901|548284|548285|548286|548289|548295|548303|548304|548318|548324|548326|620533|726336|739870|770408|842800|874309|874310|874311|874312|874313|874314|874315|874316|874317|874318|874319", + "text": "Spondylocostal dysostosis 2, autosomal recessive" + }, + { + "baseId": "20223|47509|255414|265437|269087|340063|341505|341510|341524|714683|739871|739872|754778|770408|770410|770413|785057|785058|842800|874309|979690|979691|979692|979693|979694|979695|979696|979697|979698", + "text": "Spondylocostal dysostosis type 2" + }, + { + "baseId": "20226|20227|20229|140438|790045", + "text": "Heterotaxy, visceral, 2, autosomal" + }, + { + "baseId": "20230|20231|20232|20233|20239|20240|20241|196338|267580|274297|295775|295777|295780|295792|295795|295800|295804|295805|295811|295821|295828|295830|295835|295838|295839|295845|295846|295852|295853|295856|295869|295876|295877|295880|295890|295891|295893|295894|295899|295900|295939|295949|297591|297592|297607|297611|297613|297618|297626|297637|297645|297649|297651|297669|297671|297672|297673|297680|297681|297682|297689|297690|297695|297696|297699|297700|297701|297703|297705|297712|297715|297717|297718|297763|301485|301495|301497|301498|301499|301507|301508|301515|301521|301530|301532|301555|301565|301568|301572|301573|301585|301588|301606|301607|301610|301615|301616|301618|301621|301622|301623|301721|301724|301733|301738|301742|301743|301744|301746|301752|301756|301759|301760|301767|301768|301771|301781|301789|301791|301792|301793|301794|301806|301807|301810|301811|698894|893203|893204|893205|893206|893207|893208|893209|893210|893211|893212|893213|893214|893215|893216|893217|893218|893219|893220|893221|893222|893223|893224|893225|893226|893227|893228|893229|893230|893231|893232|893233|893234|893235|893236|893237|893238|893239|893240|893241|893242|893243|893244|893245|893246|893247|893248|893249|893250|893251|893252|893253|893254|893255|893256|893257|893258|893259|893260|893261|893262|893263|893264|893265|893266|893267|893268|893269|893270|893294|896055|896056|896057|896058|976648", + "text": "Craniometaphyseal dysplasia, autosomal dominant" + }, + { + "baseId": "20231|20234|20235|20237|20238|196338|267580|274297|295775|295777|295780|295792|295795|295800|295804|295805|295811|295821|295828|295830|295835|295838|295839|295845|295846|295852|295853|295856|295869|295876|295877|295880|295890|295891|295893|295894|295899|295900|295939|295949|297591|297592|297607|297611|297613|297618|297626|297637|297645|297649|297651|297669|297671|297672|297673|297680|297681|297682|297689|297690|297695|297696|297699|297700|297701|297703|297705|297712|297715|297717|297718|297763|301485|301495|301497|301498|301499|301507|301508|301515|301521|301530|301532|301555|301565|301568|301572|301573|301585|301588|301606|301607|301610|301615|301616|301618|301621|301622|301623|301721|301724|301733|301738|301742|301743|301744|301746|301752|301756|301759|301760|301767|301768|301771|301781|301789|301791|301792|301793|301794|301806|301807|301810|301811|698894|893203|893204|893205|893206|893207|893208|893209|893210|893211|893212|893213|893214|893215|893216|893217|893218|893219|893220|893221|893222|893223|893224|893225|893226|893227|893228|893229|893230|893231|893232|893233|893234|893235|893236|893237|893238|893239|893240|893241|893242|893243|893244|893245|893246|893247|893248|893249|893250|893251|893252|893253|893254|893255|893256|893257|893258|893259|893260|893261|893262|893263|893264|893265|893266|893267|893268|893269|893270|893294|896055|896056|896057|896058|963138|976648", + "text": "Familial calcium pyrophosphate deposition" + }, + { + "baseId": "20236", + "text": "Chondrocalcinosis 2, sporadic" + }, + { + "baseId": "20243|20244|20245|20246|20247|167467|623118", + "text": "Diarrhea 3, secretory sodium, congenital, syndromic" + }, + { + "baseId": "20248|106514|106515|106516|106517|106518|106519|247012|961777|961778", + "text": "Hyperlysinemia" + }, + { + "baseId": "20249|275836|275843|275845|275846|275847|275849|275866|275874|275876|275877|275878|275879|275880|275882|275883|275885|275889|275924|275927|275934|275935|275951|275952|275958|275966|276027|276028|276032|276045|276050|276051|276054|276060|276061|276064|276069|276114|276141|276142|276143|276145|276151|276164|276169|276170|353027|614180|619945|620704|706564|731568|861900|861905|861906|861907|861908|861909|861910|861911|861912|861913|861914|861915|861916|861917|861918|861919|861920|861921|861922|861923|861924|861925|861926|861927|861928|861929|861930|861931|861932|861933|980431", + "text": "MASP2 deficiency" + }, + { + "baseId": "20250|20251|481482|481483|552094|552095|552096|683218|963141|964824", + "text": "Congenital heart defects, multiple types, 2" + }, + { + "baseId": "20252|20257|20258|20834|20835|20836|71033|71034|71035|71036|71360|71361|71362|71363|71364|190040|190041|190042|193521|274295|300116|302843|307455|333191|333197|333198|333205|333213|333217|343301|343303|348623|348624|349697|438917|512906|741823|756936|880354|880355|880356|880357|880734", + "text": "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1" + }, + { + "baseId": "20252|20253|20254|20255|20256|20257|20258|71363|193655|237073|252353|274295|300113|300114|300120|300122|302844|307457|307466|722029|895965|895966|895967|895968|895969|895970|895971|896243", + "text": "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2" + }, + { + "baseId": "20259|20260|513520|581918|581919", + "text": "Osteoarthritis" + }, + { + "baseId": "20261|20262|20263|20264|20265|20266|101825|106465|152872|177387|177614|177618|186764|186765|186766|186767|186768|186769|186770|186771|253180|253181|253182|253184|253186|253187|253188|253190|268056|268061|272971|275240|305952|305953|305957|305964|305970|305971|305972|305985|309991|309997|310004|310005|310008|310011|310012|310016|315302|315315|315316|315319|315320|315321|315322|315324|315327|315330|315332|315403|315407|315408|315410|315413|315416|315435|315436|315445|315446|315450|315454|315455|315456|315461|315462|315470|357640|357641|357642|357643|357644|357645|357646|357647|357648|357649|357650|357651|357652|357653|357654|357655|360901|407456|417079|417080|417081|417082|417083|417084|417085|417086|417087|417088|417089|417090|417091|417092|417093|417094|417095|417096|417097|417098|417099|417100|417101|417102|417103|417104|417105|417106|417107|417108|417109|417110|417111|417112|417113|417114|417115|417116|417117|417118|417119|417120|417121|417122|417123|417124|417125|417126|417127|417128|417129|417130|417131|417132|417133|417134|417135|417136|417137|417138|417139|417140|417141|417142|417143|417144|417145|417146|417147|417148|417149|417150|417151|417152|417155|417156|417157|424200|424201|431735|480496|494986|544470|544475|544478|544481|544766|544768|544804|544870|544877|583381|623639|623640|711650|736761|751254|766898|766903|766908|779561|790816|799030|835088|900096|900097|900098|900099|900100|900101|900102|900103|900104|900105|900106|900107|900108|900109|900110|900111|900112|900113|900114|900115|900116|900117|900118|900119|900120|900121|900122|900123|900124|900125|900126|900127|900128|976718|976719", + "text": "Achromatopsia 3" + }, + { + "baseId": "20262|20264|20266|24514|24515|24517|24519|24520|24521|88340|101244|101245|101246|152872|177387|177614|177618|177925|186764|186766|186769|186771|188766|191918|194429|213583|253181|253184|253188|253189|253915|253916|253917|253919|253920|253921|253922|253923|253924|268061|269501|269507|275240|288462|288469|288473|291347|291525|305961|305972|305979|305984|310028|311682|311689|311693|311696|311707|311708|311713|315454|315455|315462|315470|317261|317262|317267|317268|317273|317276|317288|317289|317290|323308|323311|323312|323313|323317|323318|323319|323326|323327|323329|323330|323331|323335|323880|323890|323892|323893|323894|323911|323919|353580|353845|357644|360901|407456|413292|413546|417083|417092|417103|417114|417136|431557|431745|431746|431747|431748|444307|480771|480772|480773|480774|480775|480776|480777|480778|480779|480780|480781|480782|480783|480784|486445|488680|490192|494980|494981|494982|494983|494984|494985|494986|496144|512922|512923|514579|544475|589204|590440|612250|612831|622993|622994|623639|623640|623878|624022|700677|711649|711650|730590|736761|751252|751253|751254|766898|766902|766903|766905|766906|766908|766909|779561|796193|800479|800480|800482|800483|800484|800539|800540|800541|800542|800562|801346|801348|801350|801411|821949|821950|835057|835059|835061|835064|835066|835068|835073|835075|835076|835077|835085|835089|852156|866560|866561|866562|866563|866564|866565|866566|866567|866568|866569|866570|866571|866572|866573|866574|866575|866576|866577|866578|866579|866580|868535|868536|868537|918189|978479|978480|978481|978482", + "text": "Achromatopsia" + }, + { + "baseId": "20264|22919|22923|22924|22942|22952|104927|104930|104931|104938|104954|104974|104990|105042|105058|105068|105082|105135|105147|105160|105279|105285|105296|105297|105302|105329|105330|105332|105333|105337|105343|105380|105381|105383|105387|139937|139938|139942|139944|152793|177450|190742|191153|237686|237695|237696|237704|250031|250033|253189|267624|281326|281328|281329|281332|281340|281341|281342|281346|281351|281359|281361|281367|281368|281373|281375|281378|281381|281972|281973|281986|281988|281995|281996|282000|282001|282006|283241|283246|283260|283261|283265|283266|283281|283282|283286|283290|283291|283298|283299|283386|283388|283391|283392|283399|283400|283402|283415|283422|283423|283434|283438|283441|283442|305961|305979|305984|310028|353845", + "text": "Stargardt Disease, Recessive" + }, + { + "baseId": "20264|315327", + "text": "CNGB3-Related Disorders" + }, + { + "baseId": "20266|22918|22919|22920|22921|22921|22922|22923|22925|22926|22927|22927|22931|22933|22933|22935|22937|22937|22938|22939|22940|22942|22943|22943|22944|22946|22946|22948|22950|22951|22952|39173|39174|98774|98777|98777|98778|101825|104916|104923|104923|104925|104926|104935|104952|104955|104956|104959|104965|104969|104972|104972|104973|104973|104976|104985|104990|104991|104993|104995|104996|104997|104997|104999|105001|105003|105011|105012|105016|105030|105032|105033|105037|105042|105055|105058|105069|105070|105085|105086|105101|105102|105109|105113|105113|105128|105129|105132|105145|105149|105152|105154|105156|105163|105166|105167|105172|105173|105173|105174|105177|105181|105189|105190|105192|105193|105194|105195|105199|105199|105200|105210|105212|105219|105220|105221|105227|105229|105230|105231|105233|105235|105238|105240|105244|105254|105260|105269|105274|105279|105287|105291|105292|105308|105311|105317|105317|105319|105320|105323|105327|105328|105330|105336|105337|105339|105341|105345|105349|105352|105359|105362|105365|105381|105394|105394|105405|105406|106465|139941|152790|152792|152794|152872|177387|177450|177451|177614|177618|191153|194216|209342|209342|217189|227509|227510|237631|237632|237633|237634|237635|237636|237637|237637|237638|237639|237640|237641|237642|237643|237644|237645|237646|237647|237648|237649|237650|237651|237652|237653|237654|237655|237657|237658|237659|237660|237661|237662|237663|237664|237665|237666|237667|237668|237669|237670|237671|237672|237673|237674|237675|237676|237677|237678|237679|237680|237682|237683|237684|237685|237686|237687|237688|237689|237690|237691|237692|237693|237694|237695|237696|237697|237698|237699|237700|237701|237702|237703|237704|237705|237706|237707|237708|237709|237710|253180|253181|253182|253184|253186|253187|253188|253190|259680|259682|267624|268056|268061|272578|272971|275240|305952|305953|305957|305964|305970|305971|305972|305985|309991|309997|310004|310005|310008|310011|310012|310016|315302|315315|315316|315319|315320|315321|315322|315324|315330|315332|315403|315407|315408|315410|315413|315416|315435|315436|315445|315446|315450|315454|315455|315456|315461|315462|315470|359278|361623|365433|406402|407456|417136|426740|431614|431615|431616|431618|431619|431621|431623|431626|431627|431851|498604|498850|536020|551522|581848|583381|612831|677405|711650|736761|751254|766898|766903|766908|779561|790002|790003|790004|790005|790006|790007|790008|790009|790010|790011|790012|790013|790014|790015|790016|790017|790018|790019|799030|818175|818177|835088|900096|900097|900098|900099|900100|900101|900102|900103|900104|900105|900106|900107|900108|900109|900110|900111|900112|900113|900114|900115|900116|900117|900118|900119|900120|900121|900122|900123|900124|900125|900126|900127|900128|905881|972858", + "text": "Stargardt disease 1" + }, + { + "baseId": "20267|20267|20268|20269|20270|20270|20271|20272|20273|20274|20275|20278|34317|34319|34320|34323|34326|34328|34333|34333|34334|34335|34335|34336|34337|34339|188225|188225|188226|275812|275814|275815|275815|275816|275817|275827|275839|275840|275840|275850|275850|275851|275852|275852|275853|275855|275856|275860|275868|275872|275874|275977|275978|275982|275983|275988|275989|275995|275996|275998|276021|276022|276025|276026|276082|276105|276108|276127|276128|276138|276140|361606|512791|514974|514976|556548|576387|626571|861324|861325|861882|861883|861884|861885|861886|861887|861888|861889|861890|861891|861892|861893|861894|861895|861896|861897|861898|861899|861900|861901|861902|861903|861904|929949|929950|929951|941366", + "text": "Amyotrophic lateral sclerosis type 10" + }, + { + "baseId": "20267|20270|34319|34333|34335|34339|188225|275815|275840|275850|275852|514974|514976|556548|626571|929949|929950|929951|941366", + "text": "TARDBP-related frontotemporal dementia" + }, + { + "baseId": "20277|20278|34326", + "text": "FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED" + }, + { + "baseId": "20279|20280|20281|20282|20283|20284|20285|71202|71203|71204|71205|71206|71207|71208|71209|71210|71211|71213|192133|195377|265374|265891|329163|329167|329168|329172|329174|329175|329186|329188|329193|329198|329200|339322|339324|339328|339332|339335|339344|339356|339358|339364|339365|339367|339372|339373|339376|339388|345190|345192|345193|345194|345195|345198|345202|345206|345209|345212|345216|345218|346593|346597|346598|346599|346600|346602|346606|346608|346611|346617|353446|552285|576134|578551|584704|590368|612321|620597|653894|780129|877960|877961|877962|877963|877964|877965|877966|877967|877968|877969|877970|877971|877972|877973|877974|877975|877976|877977|877978|877979|877980|877981|877982|877983|877984|877985|877986|880555|880556|880557|880558|904190|920378|974518|974526|974527", + "text": "Mulibrey nanism syndrome" + }, + { + "baseId": "20286|20288|20290|132428|132429|132430|132431|132432|132433|132434|132435|132436|132437|132438|132439|132440|132441|132442|132443|132444|132445|132446|132447|132448|132449|132450|132451|132452|132453|132454|132455|132456|132457|132458|132459|132460|227515|227516|227517|227518|350779", + "text": "Keratoconus 1" + }, + { + "baseId": "20286|20287|20288|20290|106790|106791|257338|334985|334986|334997|334998|335000|335001|335005|335015|335018|335022|335023|335025|335028|335035|335044|344805|344806|344808|344809|344810|344823|344824|344827|344828|349766|349768|349769|349771|349772|350772|350774|350775|350778|350779|350780|350781|350784|353582|360918|482202|778675|885912|885913|885914|885915|885916|885917|885918|885919|885920|885921|885922|885923|885924|885925|885926|885927|885928|885929|885930|885931|887435", + "text": "Polymorphous corneal dystrophy" + }, + { + "baseId": "20287|226677|226678|226679|226680|705429", + "text": "Posterior polymorphous corneal dystrophy 1" + }, + { + "baseId": "20289|920607", + "text": "Craniofacial anomalies and anterior segment dysgenesis syndrome" + }, + { + "baseId": "20291|20292|20293|20298|20299|20301|137696|137698|262107|262108|262110|262111|262112|262113|262116|262117|262118|262119|262120|262122|262123|262126|262127|262128|262130|262131|262132|262133|262134|325523|325529|325530|325534|325536|325540|325541|325543|325547|325548|325550|325554|325555|325557|325569|325574|325584|325585|325587|325588|325598|325599|325609|325612|335203|335205|335207|335210|335214|335215|335216|335217|335221|335224|335227|335242|335244|341665|341669|341676|341678|341680|341681|341686|341689|341690|341697|341699|341704|341706|341708|341710|341715|341718|341720|341721|341725|343150|343151|343153|343158|343159|343162|343168|343177|343179|343192|343196|343198|343201|343202|343205|343211|343217|343219|343222|343224|343226|343227|343235|343236|744960|875381|875382|875383|875384|875385|875386|875387|875388|875389|875390|875391|875392|875393|875394|875395|875396|875397|875398|875399|875400|875401|875402|875403|875404|875405|875406|875407|875408|875409|875410|876676|966751", + "text": "Cylindromatosis, familial" + }, + { + "baseId": "20293|20294|20297|20298|20300|137696|137698|262109|262114|262115|262124|262125|262129|325523|325529|325530|325534|325536|325540|325541|325543|325547|325548|325550|325554|325555|325557|325569|325574|325584|325585|325587|325588|325598|325599|325609|325612|335203|335205|335207|335210|335214|335215|335216|335217|335221|335224|335227|335242|335244|341665|341669|341676|341678|341680|341681|341686|341689|341690|341697|341699|341704|341706|341708|341710|341715|341718|341720|341721|341725|343150|343151|343153|343158|343159|343162|343168|343177|343179|343192|343196|343198|343201|343202|343205|343211|343217|343219|343222|343224|343226|343227|343235|343236|744960|875381|875382|875383|875384|875385|875386|875387|875388|875389|875390|875391|875392|875393|875394|875395|875396|875397|875398|875399|875400|875401|875402|875403|875404|875405|875406|875407|875408|875409|875410|876676", + "text": "Brooke-Spiegler syndrome" + }, + { + "baseId": "20295|20296|20297|20298|137696|137698|262121|325523|325529|325530|325534|325536|325540|325541|325543|325547|325548|325550|325554|325555|325557|325569|325574|325584|325585|325587|325588|325598|325599|325609|325612|335203|335205|335207|335210|335214|335215|335216|335217|335221|335224|335227|335242|341665|341669|341676|341678|341680|341686|341689|341690|341697|341699|341704|341706|341708|341710|341715|341718|341720|341721|341725|343150|343151|343153|343158|343159|343162|343168|343179|343192|343196|343198|343205|343211|343217|343219|343222|343226|343227|343235|343236|744960|875381|875382|875383|875384|875385|875386|875387|875388|875389|875390|875391|875392|875393|875394|875395|875396|875397|875398|875399|875400|875401|875402|875403|875404|875405|875406|875407|875408|875409|875410|876676", + "text": "Familial multiple trichoepitheliomata" + }, + { + "baseId": "20302|20303|20304|102897|199784|252151|252152|252153|252154|299237|299244|299246|299250|299256|299259|299260|299266|299271|299277|299285|299294|299295|299296|301639|301640|301644|301660|301673|301675|301680|301681|301683|301699|306067|306090|306120|306121|306138|306141|306143|306144|306145|306146|306151|306153|306155|306167|306169|306188|306331|306332|306334|306335|306361|306371|306378|306379|306382|306384|306395|306406|306407|306419|306422|306423|389650|521733|522045|560397|560610|563397|634657|634658|634659|634660|634661|634662|634663|634664|634665|634666|710233|710235|735454|749874|790598|804882|831625|831626|831627|831628|831629|831630|831631|831632|831633|831634|895495|895496|895497|895498|895499|895500|895501|895502|895503|895504|895505|895506|895507|895508|895509|895510|895511|895512|895513|895514|895515|895516|895517|895518|895519|895520|895521|895522|895523|895524|895525|895526|895527|895528|895529|895530|895531|895532|895533|895534|895535|895536|895537|895538|895539|895540|924273|924274|924275|933193|933194|933195|944905|944906|944907|944908|944909|954388|954389|954390|954391|954392", + "text": "Familial hemophagocytic lymphohistiocytosis 4" + }, + { + "baseId": "20305|20306|20307|20308|142957|142958|142959|142960|142961|142962|142963|142964|142965|142966|192019|205145|251798|251800|251801|251802|251804|251805|251806|251807|251808|251809|251810|251811|251812|251813|264202|264220|295907|295910|295911|295912|295918|295919|295922|295931|295933|295937|297719|297720|297727|297732|297746|297751|297753|301638|301642|301645|301649|301657|301658|301659|301662|301664|301666|301667|301670|301819|301820|301821|301823|301826|301827|301828|301848|359552|360867|367978|368407|368425|368427|406656|421527|443704|443705|443707|454677|454680|454684|454688|454691|454703|454776|454777|455539|495252|496425|500709|513556|514505|520839|520841|520843|520844|521103|521104|521106|521109|521113|521243|521245|521247|521255|521303|521308|521310|560179|560181|560294|560296|560298|562909|562920|564888|564893|564903|576112|584762|612271|613507|613509|613510|614281|614282|620190|633553|633554|633555|633556|633557|633558|633559|633560|633561|633562|633563|633564|633565|633566|633567|633568|633569|633570|633571|633572|633573|633574|633575|633576|633577|633578|651312|651315|709714|709715|721288|734916|734917|734919|744027|749326|759369|764950|764951|782201|782203|782204|782205|819564|830428|830429|830430|830431|830432|830433|830434|830435|830436|830437|830438|830439|830440|830441|830442|830443|830444|830445|830446|830447|830448|830449|830450|851018|851020|851022|893275|893276|893277|893278|893279|893280|893281|893282|893283|893284|893285|893286|893287|893288|893289|893290|893291|893292|893293|896059|915006|923918|923919|923920|923921|923922|923923|923924|923925|923926|932757|932758|932759|932760|932761|932762|932763|932764|939993|939994|944441|944442|944443|944444|944445|944446|944447|944448|944449|944450|944451|944452|954069|954070|954071|954072|954073|954074|954075|960557|977213", + "text": "Netherton syndrome" + }, + { + "baseId": "20308", + "text": "SPINK5 POLYMORPHISM" + }, + { + "baseId": "20309|20310|20311|552206", + "text": "Nephrolithiasis/osteoporosis, hypophosphatemic, 2" + }, + { + "baseId": "20310|20399|76488|181455|186603|192938|193488|200349|214364|244917|246919|250624|263997|312163|360862|390510|415480|443176|443179|514117|581999|624419|644712|697968|708009|708013|708015|724534|733144|791543|818211|874831|904075|904076|904077|904078|904079|904080|904081|904082|904083|904084|904085|904086|904092|904095|904096|965433", + "text": "Chronic kidney disease" + }, + { + "baseId": "20311|186616", + "text": "Hypophosphatemia" + }, + { + "baseId": "20311|20675|20683|20685|20970|27267|200501|236723|260799|539124|539125|539126|539135|539136|539143|539152|539154|969244", + "text": "Nephrolithiasis" + }, + { + "baseId": "20312|20313|20314|75333|135818|135819|192432|227921|314761|314779|314781|314805|314810|321476|321487|321489|321501|327605|327622|327637|327642|327651|328668|328736|328739|444869|480427|480431|481479|493811|493812|508867|537165|576143|576144|626208|792607|798645|868688|868689|868690|868691|903582|917388|920101|920102|920103|920104|920105|920106|920304|970943|971538", + "text": "Spinocerebellar ataxia type 5" + }, + { + "baseId": "20315|48731|48732|48733|142485|142486|142487|211824|211835|211836|211838|339745|339747|339749|345475|345476|346822|346823|378660|482152|620602|878190|878191|878192|878193|880567", + "text": "Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4" + }, + { + "baseId": "20316|20317|20318|20319|20320|20321|20322|33943|33944|33945|33946|33947|33948|33949|33950|33951|33952|33953|33954|33955|33956|33957|33958|33959|33960|33961|33962|33965|171814|175054|175055|175056|175332|175333|175335|177772|191863|207808|207809|207810|207811|229954|253959|253961|253965|273562|311879|311881|311892|311893|311898|311900|311901|311903|311905|311908|311909|311911|311916|317495|317496|317497|317500|317527|317530|317531|317536|317538|317542|317550|317553|317560|317571|317574|323519|323522|323544|323546|323549|323553|323554|323556|323557|324204|324205|324212|324215|324219|324222|324225|324229|324230|324232|324238|324239|324248|324252|324253|324258|324259|324262|429155|493975|503317|610684|615952|615953|615965|682847|682849|712545|737674|768101|783795|783804|801120|866696|866697|866698|866699|866700|866701|866702|866703|866704|866705|866706|866707|866708|866709|866710|866711|866712|866713|866714|866715|984079|984080", + "text": "Hermansky-Pudlak syndrome 1" + }, + { + "baseId": "20323", + "text": "SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS" + }, + { + "baseId": "20324", + "text": "Immunodeficiency due to ficolin 3 deficiency" + }, + { + "baseId": "20325|205134|227224|227225|227226|227227|550855|609298|732968|732969|790128", + "text": "Pigmented nodular adrenocortical disease, primary, 2" + }, + { + "baseId": "20327", + "text": "AIDS, progression to" + }, + { + "baseId": "20328|102925|102926|174156|981566", + "text": "Deafness, autosomal recessive 61" + }, + { + "baseId": "20329|20330|20331|190815|227212|236949|266305|266503|268573|270614|279610|279615|279616|279617|279618|279625|279629|279644|279645|279868|279869|279871|279872|279873|279874|279876|279878|281209|281238|281239|281240|281244|281245|281257|281271|281274|281275|281278|281289|281294|281296|281297|281298|389211|488693|584436|584445|620715|718804|718805|743737|761712|792714|863914|863915|863916|863917|863918|863919|865136|865137|865138|865139", + "text": "Hypoparathyroidism-retardation-dysmorphism syndrome" + }, + { + "baseId": "20329|227212|620715|792714", + "text": "Autosomal recessive Kenny-Caffey syndrome" + }, + { + "baseId": 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78305|611006|616091|616092|616098|616099|616108|616111|616112|616121|616122|616130|616133|619091|628066|628067|628068|628069|628070|628071|628072|628073|628074|628075|628076|628077|628078|628079|628080|628081|628082|628083|628084|628085|628086|628087|628088|628089|628090|628091|628092|628093|628094|628095|628096|628097|628098|628099|628100|628101|628102|628103|628104|628105|628106|628107|628108|628109|628110|628111|628112|628113|650593|650680|650681|650682|650683|650754|650763|650764|690623|690625|759038|761969|761974|761976|761978|761979|774531|774536|780709|780713|787013|789409|789410|789973|789974|789975|789976|789977|789978|789979|789980|789981|789982|789983|806609|806642|806653|806657|806675|806679|806681|806684|806694|806695|818973|818974|818975|818976|824165|824166|824167|824168|824169|824170|824171|824172|824173|824174|824175|824176|824177|824178|824179|824180|824181|824182|824183|824184|824185|824186|824187|824188|824189|824190|824191|824192|824193|824194|824195|824196|824197|850775|850796|850798|850800|850997|850999|851311|864507|907215|907223|907227|907232|922092|922093|922094|922095|922096|922097|922098|922099|922100|922101|922102|922103|922104|922105|922106|930566|930567|930568|930569|930570|930571|930572|930573|930574|930575|930576|930577|930578|930579|930580|930581|939817|939818|939819|939820|940641|940642|940643|940644|942005|942006|942007|942008|942009|942010|942011|942012|942013|942014|942015|952450|952451|952452|952453|952454|952455", + "text": "MYH-associated polyposis" + }, + { + "baseId": "20332|20600|22859|23777|27270|27271|27617|27628|28311|28316|50032|50035|50076|94757|94763|94786|94786|94812|94816|94826|94826|94834|94836|94843|94898|94947|95036|133027|133050|133378|136694|136698|136700|136701|136702|136713|138590|150979|151013|151078|151946|152183|152204|180098|181998|182130|184193|212214|221251|221252|221295|232837|337250|362837|392813|392893|400267|405879|405897|427189|432523|451404|473109|486818|486819|486820|508809|518546|537660|553356|576119", + "text": "Endometrial carcinoma" + }, + { + "baseId": "20332|20333|32616|32617|32618|32620|32622|32623|32625|32626|50193|133297|133302|133303|138598|139695|150591|150996|152450|179930|181678|232272|363111|363112", + "text": "Pilomatrixoma" + }, + { + "baseId": "20333|20602", + "text": "Endometrial cancer" + }, + { + "baseId": "20333", + "text": "Small intestine carcinoid" + }, + { + "baseId": "20333", + "text": "Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas" + }, + { + "baseId": "20333", + "text": "Ovarian carcinoma" + }, + { + "baseId": "20335|24698|24706|24711|24712|24715|24716|24745|27406|27421|27541|28674|33882|50200|51408|51409|51412|51413|51415|51417|70573|93179|93180|93181|93182|93183|93184|93185|93186|93187|93188|93189|93190|93191|93192|93193|93194|93195|93196|93197|93198|93199|93200|93201|93202|93203|93204|93205|93206|93207|93208|93209|93210|93211|93212|93213|93214|93215|93216|93217|93218|93219|93220|93221|93222|93223|93224|93225|93226|93227|93228|93229|93230|93231|93232|93233|93234|93235|93236|93237|93238|93239|93240|93241|93242|93243|93244|93245|93246|93247|93248|93249|93250|93251|93252|93253|93254|93255|93256|93257|93258|93259|93260|93261|93262|93263|93264|93265|93266|93267|93268|93269|93270|93271|93272|93273|93274|93275|93276|93277|93278|93279|93280|93281|93282|93283|93284|93285|93286|93287|93288|93289|93290|93291|93292|93293|93294|93295|93296|93297|93298|93299|93300|93301|93302|93303|93304|93305|93306|93307|93308|93309|93310|93311|93312|93313|93314|93315|93316|93317|93318|93319|93320|93321|93322|93323|93324|93325|93326|93327|93328|93329|93330|93331|93332|93333|93334|93335|93336|93337|93338|93339|93340|93341|93342|93343|93344|93345|93346|93347|93348|93349|93350|93351|93352|93353|93354|93355|93356|93357|93358|93359|93360|93361|93362|93363|93364|93365|93366|93367|93368|93369|93370|93371|93372|93373|93374|93375|93376|93377|93378|93379|93380|93381|93382|93383|93384|93385|93386|93387|93388|93389|93390|93391|93392|93393|93394|93395|93396|93397|93398|93399|93400|93401|93402|93403|93404|93405|93406|93407|93408|93409|93410|93411|93412|93413|93414|93415|93416|93417|93418|93419|93420|93421|93422|93423|93424|93425|93426|93427|93428|93429|93430|93431|93432|93433|93434|93435|93436|93437|93438|93439|93440|93441|93442|93443|93444|93445|93446|93447|93448|93449|93450|93451|93452|93453|93454|93455|93456|93457|93458|93459|93460|93461|93462|93463|93464|93465|93466|93467|93468|93469|93470|93471|93472|93473|93474|93475|93476|93477|93478|93479|93480|93481|93482|93483|93484|93485|93486|93487|93488|93489|93490|93491|93492|93493|93494|93495|93496|93497|93498|93499|93500|93501|93502|93503|93504|93505|93506|93507|93508|93509|93510|93511|93512|93513|93514|93515|93516|93517|93518|93519|93520|93521|93522|93523|93524|93525|93526|93527|93528|93529|93530|93531|93532|93533|93534|93535|93536|93537|93538|93539|93540|93541|93542|93543|93544|93545|93546|93547|93548|93549|93550|93551|93552|93553|93554|93555|93556|93557|93558|93559|93560|93561|93562|93563|93564|93565|93566|93567|93568|93569|93570|93571|93572|93573|93574|93575|93576|93577|93578|93579|93580|93581|93582|93583|93584|93585|93586|93587|93588|93589|93590|93591|93592|93593|93594|93595|93596|93597|93598|93599|93600|93601|93602|93603|93604|93605|93606|93607|93608|93609|93610|93611|93612|93613|93614|93615|93616|93617|93618|93619|93620|93621|93622|93623|93624|93625|93626|93627|93628|93629|93630|93631|93632|93633|93634|93635|93636|93637|93638|93639|93640|93641|93642|93643|93644|93645|93646|93647|93648|93649|93650|93651|93652|93653|93654|93655|93656|93657|93658|93659|93660|93661|93662|93663|93664|93665|93666|93667|93668|93669|93670|93671|93672|93673|93674|93675|93676|93677|93678|93679|93680|93681|93682|93683|93684|93685|93686|93687|93688|93689|93690|93691|93692|93693|93694|93695|93696|93697|93698|93699|93700|93701|93702|93703|93704|93705|93706|93707|93708|93709|93710|93711|93712|93713|93714|93715|93716|93717|93718|93719|93720|93721|93722|93723|93724|93725|93726|93727|93728|93729|93730|93731|93732|93733|93734|93735|93736|93737|93738|93739|93740|93741|93742|93743|93744|93745|93746|93747|93748|93749|93750|93751|93752|93753|93754|93755|93756|93757|93758|93759|93760|93761|93762|93763|93764|93765|93766|93767|93768|93769|93770|93771|93772|93773|93774|93775|93776|93777|93778|93779|93780|93781|93782|93783|93784|93785|93786|93787|93788|93789|93790|93791|93792|93793|93794|93795|93796|93797|93798|93799|93800|93801|93802|93803|93804|93805|93806|93807|93808|93809|93810|93811|93812|93813|93814|93815|93816|93817|93818|93819|93820|93821|93822|93823|93824|93825|93826|93827|93828|93829|93830|93831|93832|93833|93834|93835|93836|93837|93838|93839|93840|93841|93842|93843|93844|93845|93846|93847|93848|93849|93850|93851|93852|93853|93854|93855|93856|93857|93858|93859|93860|93861|93862|93863|93864|93865|93866|93867|93868|93869|93870|93871|93872|93873|93874|93875|93876|93877|93878|93879|93880|93881|93882|93883|93884|93885|93886|93887|93888|93889|93890|93891|93892|93893|93894|93895|93896|93897|93898|93899|93900|93901|93902|93903|93904|93905|93906|93907|93908|93909|93910|93911|93912|93913|93914|93915|93916|93917|93918|93919|93920|93921|93922|93923|93924|93925|93926|93927|93928|93929|93930|93931|93932|93933|93934|93935|93936|93937|93938|93939|93940|93941|93942|93943|93944|93945|93946|93947|93948|93949|93950|93951|93952|93953|93954|93955|93956|93957|93958|93959|93960|93961|93962|93963|93964|93965|93966|93967|93968|93969|93970|93971|93972|93973|93974|93975|93976|93977|93978|93979|93980|93981|93982|93983|93984|93985|93986|93987|93988|93989|93990|93991|93992|93993|93994|93995|93996|93997|93998|93999|94000|94001|94002|94003|94004|94005|94006|94007|94008|94009|94010|94011|94012|94013|94014|94015|94016|94017|94018|94019|94020|94021|94022|94023|94024|94025|94026|94027|94028|94029|94030|94031|94032|94033|94034|94035|94036|94037|94038|94039|94040|94041|94042|94043|94044|94045|94046|94047|94048|94049|94050|94051|94052|94053|94054|94055|94056|94057|94058|94059|94060|94061|94062|94063|94064|94065|94066|94067|94068|94069|94070|94071|94072|94073|94074|94075|94076|94077|94078|94079|94080|94081|94082|94083|94084|94085|94086|94087|94088|94089|94090|94091|94092|94093|94094|94095|94096|94097|94098|94099|94100|94101|94102|94103|94104|94105|94106|94107|94108|94109|94110|94111|94112|94113|94114|94115|94116|94117|94118|94119|94120|94121|94122|94123|94124|94125|94126|94127|94128|94129|94130|94131|94132|94133|94134|94135|94136|94137|94138|94139|94140|94141|94142|94143|94144|94145|94146|94147|94148|94149|94150|94151|94152|94153|94154|94155|94156|94157|94158|94159|94160|94161|94162|94163|94164|94165|94166|94167|94168|94169|94170|94171|94172|94173|94174|94175|94176|94177|94178|94179|94180|94181|94182|94183|94184|94185|94186|94187|94188|94189|94190|94191|94192|94193|94222|94223|95067|96585|97337|132752|132772|138599|222223|222231|222236|222238|222829|222834|226350|227197|241269|241270|241346|241423|241425|241435|241439|241456|241471|241517|241518|243398|243401|243405|243480|243546|260013|394312|398544|398579|398709|398718|398758|398903|398939|399010|399274|399358|403862|403996|404082|410705|432714|461889|462005|462030|462480|463939|463940|464778|471179|476770|527022|528558|533272|569199|571376|575858|575859|575860|575861|575862|575863|575864|575865|575866|576042|576043|576044|652497|820679|820680|820681|820682|820683|820684|820685|861546|861548", + "text": "Familial colorectal cancer" + }, + { + "baseId": "20340|134313|271092|508907|791884|919809", + "text": "Congenital cataracts-facial dysmorphism-neuropathy syndrome" + }, + { + "baseId": "20341|20342|20343|20344|20345|20346|45539|45540|45541|199804|223590|237009|256082|260152|265347|327421|327422|327424|327427|343527|343532|345080|351719|433976|445699|445700|466345|467290|530597|530601|530603|530604|530752|530756|530870|530872|530877|531104|531112|537279|568706|568707|568718|570792|570794|574311|574315|574316|610056|610057|610058|614432|614432|624619|645324|645325|645326|645327|645328|645329|645330|645331|645332|645333|645334|645335|645336|645337|645338|645339|645340|652888|703985|715260|727012|740596|740597|771262|785472|785473|791679|844732|844733|844734|844735|844736|844737|844738|844739|844740|844741|851695|852694|918594|928068|928069|928070|937736|937737|940385|949714|949715|949716|960873|961973", + "text": "Common variable immunodeficiency 2" + }, + { + "baseId": "20341|20342|20344|199804|614432|844739", + "text": "Immunoglobulin A deficiency 2" + }, + { + "baseId": "20341|20342|20343|45539|45540|237009|256081|256082|327421|327422|327424|327425|327427|337287|337290|337293|343519|343523|343527|343532|345070|345079|345080", + "text": "Common Variable Immune Deficiency, Dominant" + }, + { + "baseId": "20342|928530|928531|928532|938221|938222|950285|950286|950287|958306|958307|958308|958309", + "text": "Common variable agammaglobulinemia" + }, + { + "baseId": "20348|20348|20348|20349|20355|34521|34521|34523|34523|38435|38435|101817|101817|101817|101818|101818|101819|101819|106463|106463|213466|213466|213467|243573|257301|257302|257303|257303|257304|334757|334759|334763|334765|334780|334781|334783|334785|344635|344636|344641|344645|344647|344655|349613|349613|349614|349616|349617|349625|349626|349630|350629|350630|350634|350635|350637|350639|350640|350642|350643|354064|404130|404130|471361|471361|471362|471362|488900|488900|490282|491001|534000|575074|648569|648570|648571|648572|684861|684862|791968|791969|848197|848198|848198|848199|848200|848201|848202|848203|848204|848205|848206|848207|848208|851841|852995|885783|885784|885785|885786|885787|885788|885789|885790|885791|885792|885793|885794|885795|885796|929140|938904|938905|938906|938907|950977|950978|950979|950980|950981|950982|950983|950984|950985|958771|958772|958773|958774|958775|958776|958777|958778", + "text": "McKusick-Kaufman syndrome" + }, + { + "baseId": "20348|20348|20350|20351|20352|20353|20354|20355|34521|34523|101817|101817|101818|101819|106463|213466|257301|257302|257303|334757|334759|334763|334765|334780|334781|334783|344635|344636|344641|344645|344647|349613|349614|349616|349617|349625|349626|349630|350629|350630|350634|350635|350637|350640|350642|350643|404130|471361|471362|488900|513146|539984|788934|848198|885783|885784|885785|885786|885787|885788|885789|885790|885791|885792|885793|885794|885795|885796|980394", + "text": "Bardet-Biedl syndrome 6" + }, + { + "baseId": "20360|28399", + "text": "Asthma, aspirin-induced, susceptibility to" + }, + { + "baseId": "20360", + "text": "Asthma and nasal polyps" + }, + { + "baseId": "20361|20362|429123|815875", + "text": "Diarrhea 4, malabsorptive, congenital" + }, + { + "baseId": "20365|20366|20369|20370|20371|32840|39397|134235|139887|139888|139889|142821|142822|142824|169108|169109|169110|169114|169116|169117|169118|169119|169120|186928|190657|192859|244926|268676|322184|322186|322193|322195|322198|322202|322203|322204|322206|322220|322223|322228|322229|322237|322238|322244|322248|322255|322257|322259|322262|331497|331498|331503|331504|331507|331510|331513|331514|331516|331520|331521|331523|331526|331532|331534|331536|331538|331543|331544|331547|331551|331553|331557|331559|331562|331570|338405|338411|338418|338419|338420|338430|338431|338438|338444|338449|338455|338458|338466|338475|338480|338488|338496|338497|338498|340173|340175|340180|340182|340183|340189|340191|340192|340193|340194|340199|340206|340208|340211|340213|340222|340223|340228|340229|340232|340234|340236|340237|340242|358277|358278|358279|358280|358281|358282|358283|358284|358285|358286|358287|358288|358289|358290|358291|358292|358293|360234|361213|373373|374030|374035|374038|374463|376378|415415|429644|433917|434645|513628|547385|547386|547388|547462|547463|547470|547474|547477|547655|547657|547661|547662|547674|547946|547963|547970|547974|547978|547984|547986|547992|548000|656286|688396|688397|693657|739565|739568|754388|770108|784890|784891|784893|801723|804746|873201|873202|873203|873204|873205|873206|873207|873208|873209|873210|873211|873212|873213|873214|873215|873216|873217|873218|873219|873220|873221|873222|873223|873224|873225|873226|873227|873228|873229|873230|873231|873232|873233|873234|873235|873236|873237|873238|873239|873240|873241|873242|873243|873244|873245|873246|873247|873248|873249|873250|873251|873252|873253|876489|876490|876491|979559|979560|979561|979562|979563|979564|979565|979566|979567|979568|979569|979570|979571|979572|979573|979574|979575|979576|979577|979578|979579|979580|979581|979582|979583|979584|979585|979586|979587|979588|979589|979590|979591|979592", + "text": "Agenesis of the corpus callosum with peripheral neuropathy" + }, + { + "baseId": "20372", + "text": "BETA-GLUCOPYRANOSIDE TASTING" + }, + { + "baseId": "20372", + "text": "Alcohol dependence, susceptibility to" + }, + { + "baseId": "20373|20374", + "text": "RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED" + }, + { + "baseId": "20375|105677|106451|177818|292531|292538|292539|292546|292547|292553|292554|292555|292556|292561|292597|292599|293944|293946|293963|293972|293973|297322|297323|297324|297325|297327|297328|297333|297335|297336|297342|297352|297354|297356|297357|297361|297362|297377|297378|297379|297386|297406|297407|828896|890281|890282|890283|890284|890285|890286|890287|890288|890289|890290|890291|890292|890293|890294|890295|890296|890297|890298|890299|890300|890301|890302|890303|890304|890305|890306|890307|890308|890309|890310|890311|890312|890313|890314|890315|890316|966582|966583|966584|966585|966595", + "text": "Leber congenital amaurosis 14" + }, + { + "baseId": "20375", + "text": "RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED" + }, + { + "baseId": "20376|614251", + "text": "Birbeck granule deficiency" + }, + { + "baseId": "20384", + "text": "KLOTHO POLYMORPHISM" + }, + { + "baseId": "20385|75515|319374|319378|319380|319384|319386|319390|319392|319393|319398|319405|319409|319411|319412|319414|319415|327934|327935|327936|327943|327945|327947|327959|327960|327962|327966|327967|334219|334231|334236|334238|334247|334248|334249|334253|334254|334256|334263|334271|334285|334288|334290|334291|335957|335958|335959|335965|335972|335976|335978|335982|335984|335985|335989|335998|336002|336003|336010|620858|725470|871078|871079|871080|871081|871082|871083|871084|871085|871086|871087|871088|871089|871090|871091|871092|871093|871094|871095|871096|871097|871098|871099|871100|871101|871102|871103|871104|871105|871106|871107|871108|871109|871110|871111|871112|871113|871114|871115|871116|871117|871118|871119|871120|871121|871122|871123|871124|871125|871126|871127|871128|871129|871130|871131|871132|871133|872327", + "text": "Hyperphosphatemic familial tumoral calcinosis 3" + }, + { + "baseId": "20386|20387|20388|20389|20390|20391|20392|20393|290368|290374|290375|290388|290390|290394|290396|290397|290405|290407|290409|290410|290417|290418|290422|290425|290427|290434|290435|290444|290451|290452|290456|290458|290462|291242|291252|291253|291254|291256|291258|291278|291295|291298|291304|291306|291310|291316|291324|291330|291341|291342|291350|291351|291352|294495|294496|294498|294499|294516|294518|294519|294528|294529|294530|294537|294549|294564|294565|294566|294568|294570|294571|294945|294960|294967|294968|294969|294971|294974|294976|294977|294978|294979|294980|294992|295000|295002|295007|295011|353649|439219|578419|610515|720449|734069|759263|800846|859269|888930|888931|888932|888933|888934|888935|888936|888937|888938|888939|888940|888941|888942|888943|888944|888945|888946|888947|888948|888949|888950|888951|888952|888953|888954|888955|888956|888957|888958|888959|888960|888961|888962|888963|888964|891645|961765|965659", + "text": "Triglyceride storage disease with ichthyosis" + }, + { + "baseId": "20394|20395|20396|20397|20398|101482|101483|101486|101487|101489|177135|270735|313326|313329|313330|313340|313353|313357|313358|313360|313363|313364|313366|319445|319446|319458|319459|325580|325582|325589|325590|325591|325597|325601|325602|326591|326616|326619|326620|326621|326625|326627|353173|360016|421838|460996|461007|461302|525991|526039|526485|565565|570385|620395|639823|639824|639825|639826|639827|639828|692967|692968|724325|838124|838125|838126|838127|867580|867581|867582|867583|867584|867585|867586|867587|867588|867589|867590|867591|867592|867593|867594|867595|867596|868620|868621|868622|868623|926155|935436|947362|956427|956428", + "text": "Deficiency of isobutyryl-CoA dehydrogenase" + }, + { + "baseId": "20399|20400|20402|20404|20405|20406|20407|20408|20409|131950|186602|186603|186604|186605|186606|186607|224184|226216|226217|226218|226219|226220|226221|227036|227037|249552|249553|249554|249555|249558|249559|249560|273986|277481|277485|277670|277677|277678|278561|278562|278564|278566|356997|356998|356999|357000|357001|357002|357003|357004|357005|357006|357007|384472|440412|440413|440418|486663|496597|540649|540650|540652|540653|540658|540662|540667|540677|540679|540682|540683|540684|540687|540688|540689|540690|540691|540694|540695|540696|540697|540698|540699|540701|540703|540704|540708|540709|540710|540711|540713|540715|540717|540719|540721|540722|540724|553582|576445|587964|590232|590233|623236|623237|789887|798459|798460|862844|862845|862846|862847|862848|862849|862850|862851|862852|865042|865043|906001|916806|962665|977170|983941", + "text": "Idiopathic nephrotic syndrome" + }, + { + "baseId": "20409|131950", + "text": "Nephrotic syndrome, type 2, susceptibility to" + }, + { + "baseId": "20409|21119|21911|76004|178433|178637|178662|178741|178742|178744|178745|223747|224184|360994|432287|513894|513895|513923|514037|514113|514114|514116|514118", + "text": "Proteinuria" + }, + { + "baseId": "20410|20411|20412|315715|315717|315723|322706|322707|322720|328831|620427|869052|869053|869054|869055|869056|869057|869058", + "text": "Spermatogenic failure 4" + }, + { + "baseId": "20413|20414|20415|20416|20417|252624|252625|252626|272397|273783|301951|301952|301956|301959|301960|301961|305060|305061|305063|305064|305074|305076|305079|305080|305081|305091|305092|305093|309745|309752|309755|309756|309757|309763|309767|309768|309769|309770|309778|309779|309788|309882|309883|309894|309898|309903|309904|309905|309907|309914|309921|309932|309935|309937|309939|309953|585828|586432|620797|788811|897479|897480|897481|897482|897483|897484|897485|897486|897487|897488|897489|897490|897491|897492|897493|897494|897495|897496|897497|897498|897499|897500|897501|897502|897503|897504|897505|897506|897507|897508|897509|897510|897511|897512|897513|897514|897515|897516|897517|897518|897519|897520|903550|903551", + "text": "Congenital bile acid synthesis defect 2" + }, + { + "baseId": "20418|141464|141466|141467|165472|165473|165474|237150|318169|318173|318177|318180|326177|326181|326186|326187|332336|332337|332338|332343|332345|333937|333942|333953|333960|333961|333962|333967|333979|333981|333985|333991|408728|549993|693265|693266|695580|738808|753533|870247|870248|870249|870250|870251|870252|870253|870254|870255|870256|870257|870258|870259", + "text": "Combined oxidative phosphorylation deficiency 3" + }, + { + "baseId": "20419|20420|20421|20422|20423|34214|34215|34216|34217|34218|34219|34220|34221|34222|34223|34224|34225|34226|34227|34228|34229|34230|34231|34232|221642|221644|221645|239956|252546|301261|301262|304456|304457|304459|304461|304462|304463|304465|309042|309043|309056|309057|309060|309066|309067|309071|309072|309135|309137|309139|309145|309148|395264|395624|456499|522312|522661|561169|620244|635334|683829|683831|683834|683837|685202|685204|686932|765920|859569|897028|897029|897030|897031|897032|897033|897034|897035|897036|897037|897038|897039|897040|897041|897042|897043|897044|897045|897046|897047|897048|897049|897050|897051|897052|897053|900278|900279|900280|900281|900282|900283|900284|905731|905734", + "text": "Hemochromatosis type 3" + }, + { + "baseId": "20422", + "text": "Hemochromatosis, type 1, modifier of" + }, + { + "baseId": "20424|794190|969326|976692", + "text": "Sudden infant death with dysgenesis of the testes syndrome" + }, + { + "baseId": "20425|20426|20427|20428|20429|20431|136325|136326|136344|142632|142633|211320|211324|211331|213577|303716|303727|303728|303733|303743|303746|303748|303751|303752|303755|307128|307129|307158|307163|307166|307179|307188|307192|307197|307198|307203|307206|307209|307215|307232|307233|307234|307239|307240|307246|312070|312074|312082|312084|312086|312087|312089|312090|312092|312093|312098|312099|312110|312119|312120|312121|312158|312160|312173|312175|312183|312185|312192|312195|421647|818390|818391|898570|898571|898572|898573|898574|898575|898576|898577|898578|898579|898580|898581|898582|898583|898584|898585|898586|898587|898588|898589|898590|898591|898592|970222", + "text": "Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy" + }, + { + "baseId": "20425|20426|20427|20429|20430|20431|20432|20433|39389|39390|39391|39392|39393|136325|136326|136327|136328|136329|136330|136331|136332|136334|136335|136336|136337|136338|136339|136340|136341|136343|136344|136345|136346|136347|136349|136351", + "text": "RRM2B-related mitochondrial disease" + }, + { + "baseId": "20430|39389|39390|142632|142633|211324|303716|303727|303728|303733|303743|303746|303748|303751|303752|303755|307128|307129|307158|307163|307166|307179|307188|307192|307197|307198|307203|307206|307209|307215|307232|307233|307234|307239|307240|307246|312070|312074|312082|312084|312086|312087|312089|312090|312092|312093|312098|312099|312110|312119|312120|312121|312158|312160|312173|312175|312183|312185|312192|312195|898570|898571|898572|898573|898574|898575|898576|898577|898578|898579|898580|898581|898582|898583|898584|898585|898586|898587|898588|898589|898590|898591|898592", + "text": "Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5" + }, + { + "baseId": "20432|20433", + "text": "Mitochondrial DNA depletion syndrome 8B (MNGIE type)" + }, + { + "baseId": "20434|20435|20436|20437|20438|48515|48516|48517|176026|176027|176592|176593|176594|176729|176731|176732|187130|231017|231018|231019|236928|333571|333575|333576|333578|333581|333584|343632|343636|343637|343642|343646|343648|343650|348947|348949|348950|348958|348959|348961|348966|348967|348975|348977|348978|348984|348986|349877|349878|349883|349886|349887|349891|349892|349895|349896|349899|379579|415657|446133|446134|497518|506759|506765|506778|507349|507779|621015|728195|741899|788928|882059|882060|882061|882062|882063|882064|882065|882066|882067|882068|882069|882070|882071|882072|882073|882074|882075|882076|882077|882078|882079|882080|882891|882892|882893|961348|966608", + "text": "Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities" + }, + { + "baseId": "20439|20440|20441|20442|45876|45877|45878|45879|152856|152858|192122|213523|226537|282233|283732|431008|433689|511021|513018|623250|790028|790029|790030|790031|799234|799235|799236|799237|799238|971540", + "text": "Retinitis pigmentosa 38" + }, + { + "baseId": "20443", + "text": "Cardiac conduction defect, susceptibility to" + }, + { + "baseId": "20444|20445", + "text": "Asthma-related traits, susceptibility to, 1" + }, + { + "baseId": "20446|81545|302757|302765|302767|302772|302774|306082|306087|306094|306095|306097|306099|310857|310873|310874|310877|310885|310886|311037|311053|311054|353813|353814|897957|897958|897959|897960|897961|897962|897963|897964|897965|897966|897967|897968|897969|897970|897971|900351", + "text": "Microtia, hearing impairment, and cleft palate" + }, + { + "baseId": "20447|23223|23227|23228|23230|23306|23406|23801|29244|29245|31912|49908|614420|816334|980444|980451", + "text": "Human immunodeficiency virus type 1, susceptibility to" + }, + { + "baseId": "20447", + "text": "Dengue fever, protection against" + }, + { + "baseId": "20447|20448|20578|20579|29246|32983|49355|288600|450762|576099|626125|980413|980453|980456", + "text": "Mycobacterium tuberculosis, susceptibility to" + }, + { + "baseId": "20449|20450|20451|20452|20453|20454|20455|20456|20457|70797|205544|205546|212126|238586|238587|250469|250470|250471|283572|283581|283586|283592|283598|283627|284249|284250|284251|284252|284253|284259|284261|284263|284269|284271|286257|286260|286262|286270|286273|286588|286589|286590|392375|392453|481106|481107|481108|481109|481110|481111|517467|517549|517553|517750|557798|620044|683464|683466|686100|686101|690993|758998|762742|781099|790139|795100|825517|825518|850825|883061|883062|883063|883064|883065|883066|883067|883068|883069|883070|883071|883072|887224|905729|905730|922498|931063|931064|942533", + "text": "Hemochromatosis type 4" + }, + { + "baseId": "20459|20460|20461|237519|257103|257104|257112|257116|417658|513056|590330|590331|590332|623354|818337|818338|919866|977361", + "text": "Focal segmental glomerulosclerosis 1" + }, + { + "baseId": "20462|20463|20464|47612|47614|47615|47616|47617|47618|47619|51205|174806|175218|230221|314604|314608|314615|321291|321308|321310|321316|321322|321326|327469|327470|327477|327478|327479|328514|328515|328518|371581|374180|413316|433523|461352|461355|461357|461359|461360|461363|461505|461508|461509|461511|461518|461521|461533|461857|461863|461866|461873|461885|461886|462214|462218|462219|462220|462221|462225|462226|503348|512852|526395|526401|526402|526432|526438|526686|526690|526691|526692|526923|526925|526926|526933|564847|564851|566068|567455|567457|570837|570843|570849|640328|640329|640330|640331|640332|640333|640334|640335|652383|693090|738153|768609|768610|816321|820404|838762|838763|838764|838765|838766|838767|838768|838769|838770|838771|838772|838773|838774|838775|851451|852385|868278|868279|868280|868281|868282|868283|868284|868285|903580|926344|926345|935691|935692|940228|940229|956588|970526", + "text": "Autosomal recessive cutis laxa type 1B" + }, + { + "baseId": "20462|20463|20464|20514|34302|34303|34305|34306|47612|47613|47614|47615|47616|47617|47618|47619|215086|404820|677447|983565", + "text": "Autosomal recessive cutis laxa type IA" + }, + { + "baseId": "20465|20466", + "text": "Obesity, mild, early-onset" + }, + { + "baseId": "20467|143247|143248|187181|253982|253983|253985|312047|312053|312058|312059|312063|312068|312072|317718|317722|323737|323738|323744|323754|323759|323760|323763|324457|324461|324462|324463|324469|324470|324479|620376|701531|712556|866796|866797|866798|866799|866800|866801|866802|866803|866804|866805|866806|866807|866808|866809|866810|866811|866812|866813|866814|866815|866816|866817|866818|866819|868579|868580|906310|906311|906312|906313", + "text": "Amelogenesis imperfecta, hypomaturation type, IIA2" + }, + { + "baseId": "20468|297818|297827|299996|299998|300005|304231|304233|304234|304562|455026|455205|455929|521569|521574|622352|633975|799420|819598|830886|830887|894520|894521|894522|894523|894524|894525|918972|944636", + "text": "Distal hereditary motor neuronopathy type 2C" + }, + { + "baseId": "20469|20470|20471|20472|20473|20474|20475|20476|20477|20478|48703|101111|101116|101120|101123|101126|135569|135570|135581|141815|141816|141817|141818|176982|177245|191681|192016|192843|194627|195130|195515|195687|202508|202509|202510|202514|202515|202521|204392|205000|205001|205002|205003|205004|205005|205006|207451|207454|237211|240894|265869|271384|304513|311716|311724|311728|311729|311731|317300|323340|323341|323343|323345|323350|323922|323933|323935|323936|359900|370994|397541|397548|397733|397976|397984|398094|398099|398102|444034|455941|455949|460330|460337|460338|460390|460397|460408|460414|460699|461156|461158|488628|489661|521942|522356|522698|525528|525620|525624|525964|538415|564055|564061|564925|566622|566639|566640|566644|566646|569893|569896|569898|579693|587782|639312|639313|639314|639315|639316|639317|639318|639319|652161|692898|692899|768073|802020|820283|837512|837513|837514|837515|837516|837517|837518|837519|837520|866581|866582|866583|919306|925980|925981|925982|925983|925984|925985|935251|935252|935253|935254|935255|947154|947155|947156|956288|960736|970924", + "text": "Familial temporal lobe epilepsy 1" + }, + { + "baseId": "20479|20480|20481|20482|277060|277076|277077|277078|277080|277081|277084|277086|277089|277090|277091|277310|277316|277317|277320|277321|277322|277336|277337|277343|277349|277351|277352|277353|277356|277357|278081|278085|278088|278093|278094|278097|278103|278105|278112|278113|278124|278130|278136|278137|278138|278139|278140|278141|278161|278178|278194|278195|278196|278198|278208|278213|278214|481487|486794|551683|551684|551685|551686|551687|551688|552037|578341|578342|578343|578344|718358|816435|816436|862657|862658|862659|862660|862661|862662|862663|862664|862665|862666|862667|862668|862669|862670|862671|862672|862673|862674|862675|964719", + "text": "Adrenocorticotropic hormone deficiency" + }, + { + "baseId": 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+ "text": "Werner syndrome" + }, + { + "baseId": 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+ "text": "Bloom syndrome" + }, + { + "baseId": "20497|970751", + "text": "Coronary heart disease 5" + }, + { + "baseId": "20498|20499|20500|20501|20502|20503|20504|187118|191399|191556|194424|194425|194426|194427|194941|237313|237382|237420|267837|268277|268664|271565|272448|314928|314932|314947|314948|314952|314954|314957|314958|314959|314961|314962|314970|314977|314980|314981|314988|314989|314993|314994|314997|321731|321734|321736|321737|321738|321746|321762|321764|321773|321775|321779|327808|327829|327832|327834|327835|327836|327839|327842|327849|327850|328912|328918|328919|328920|328926|358050|489344|491187|539039|546189|546199|546210|546217|546220|546228|546233|546240|546252|546253|546257|546261|546263|546267|546269|546277|546280|546282|546284|546486|546490|546492|546500|546502|546504|546510|546512|546514|546518|546521|546523|546525|546617|546618|546622|546634|546636|546640|546648|546649|546651|546656|546658|546665|546668|546669|546847|546849|546860|546862|546868|546871|546874|546884|546889|546893|546894|546897|546903|546912|546918|546922|546927|552153|584528|585644|585760|622407|682319|713105|724673|724674|724675|738222|738224|738225|738226|738227|738228|744659|752889|752890|752893|759939|759942|760041|760110|768679|768680|768682|768683|768685|768689|768695|768696|775728|784140|784144|784145|784149|788854|792783|792784|818395|868694|868695|868696|868697|868698|868699|868700|868701|868702|868703|868704|868705|868706|868707|868708|868709|868710|868711|868712|868713|872130|872131|872132|872133|966616|979070|979071|979072|979073|979074|979075|979076|979077|979078|979079|979080|979081|979082|979083|979084|979085|979086|979087|979088|979089|979090|979091|979092|979093|979094|979095|979096|979097|979098|979099|979100|979101|979102|979103|979104|979105|979106|979107|979108|979109|979110|979111|979112|979113|983464|983465", + "text": "Autosomal recessive osteopetrosis 1" + }, + { + "baseId": "20509|20510|20511|20512|20513|39380|39381|39382|46948|46950|46953|46954|133735|133736|140015|140016|140017|140019|140020|211841|211843|211847|211847|330736|330737|330741|330745|330746|330748|340961|340962|346543|346544|346546|346552|346554|346559|346563|346564|347859|347862|347867|347870|347875|347878|347880|347883|347884|438068|539078|626320|656483|798730|798731|878921|878922|878923|878924|878925|878926|878927|878928|878929|878930|878931|878932|964496", + "text": "Spinocerebellar ataxia type 28" + }, + { + "baseId": "20516|20517|20518|20519|20520|20521|20522|34305|175949|175950|176093|215085|215086|215087|230548|271430|321750|321753|321755|331029|331030|331034|331035|331036|331042|331043|331052|331055|331057|331059|337765|337766|337769|337776|337778|337795|337810|337816|339775|339776|339784|339788|339794|339796|339800|339807|339808|339809|404820|677447|872913|872914|872915|872916|872917|872918|872919|872920|872921|872922|872923|872924|876464", + "text": "Age-related macular degeneration 3" + }, + { + "baseId": "20520|21598|28229|34305|175949|175950|176093|215086|215087|230548|266502|271430|321750|321753|321755|330599|330600|330602|330603|330606|331029|331030|331034|331035|331036|331042|331043|331052|331055|331057|331059|337765|337766|337769|337776|337778|337795|337810|337816|339775|339776|339784|339788|339794|339796|339800|339807|339808|339809|340837|340843|340860|340861|340868|340869|346450|346452|346454|347785|347787|347788|347789|347790|347791|347792|347796|347799|347800|347801|347802|347803|656478|797630|801921|872913|872914|872915|872916|872917|872918|872919|872920|872921|872922|872923|872924|876464|878833|878834|878835|878836|878837|878838|878839|878840|878841|878842|878843|878844|880629", + "text": "Cutis laxa" + }, + { + "baseId": 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"Exudative vitreoretinopathy 1" + }, + { + "baseId": "20525", + "text": "Exudative vitreoretinopathy, digenic" + }, + { + "baseId": "20528", + "text": "Retinopathy of prematurity" + }, + { + "baseId": 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+ "text": "Pitt-Hopkins-like syndrome 1" + }, + { + "baseId": "20530|20531|20532|134257|140512|177117|177379|191564|192670|193620|202030|202031|202036|202047|202063|202065|202077|202083|202100|202105|202107|202122|407033|407037|444088|566547|566548|614311", + "text": "Autism 15" + }, + { + "baseId": "20536|20537|20538|39377|39378|39379|101427|101428|101430|133799|133802|133803|133804|206834|206835|280991|280992|280993|280997|280998|281002|281014|281594|281596|281599|281601|281602|281603|281605|281608|281609|281610|281613|282785|282799|282804|283089|283091|283123|283125|361159|365165|365368|365430|365439|498545|498772|541218|541221|541224|541227|541229|541230|541235|541238|541239|541243|541248|541249|541250|541255|541258|541264|541266|541274|541275|541277|541327|541329|541331|541334|541335|541336|541337|541338|541342|541345|541347|541348|557401|557403|620010|628205|628206|628207|650614|690655|696831|707493|719046|732549|732550|732551|746610|746611|746612|762048|762049|774538|774546|818987|818988|824346|824347|824348|824349|824350|864684|864685|864686|864687|864688|864689|864690|864691|864692|864693|864694|864695|864696|864697|864698|864699|864700|864701|865197|865198|930640|930641|930642|942081|942082|952498|952499|959568|970700|977553|977554|977555|977556", + "text": "Congenital disorder of glycosylation type 1C" + }, + { + "baseId": "20540|76320|266806|284098|284099|284103|284104|284112|284113|284135|284137|284141|284878|284899|284902|284903|284905|284907|286800|286809|286814|286815|286818|286820|286822|286829|286830|286831|287212|287215|287216|287221|287222|433629|489334|517542|517644|517677|559051|560558|612590|629317|629318|650944|707950|707952|825614|825615|825616|825617|850874|883427|883428|883429|883430|883431|883432|883433|883434|883435|883436|883437|883438|883439|883440|883441|883442|883443|883444|883445|883446|922526|931081|931082|931083|942570|952890|952891", + "text": "Common variable immunodeficiency 1" + }, + { + "baseId": 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+ "text": "Ehlers-Danlos syndrome dermatosparaxis type" + }, + { + "baseId": "20544|20545|965641", + "text": "Retinitis pigmentosa 46" + }, + { + "baseId": "20546|89015|247049|390502|433381|437874|460362|460419|460421|460704|461181|525541|525542|525543|525545|525635|525824|563498|564065|564066|564952|566663|569911|639332|639333|639334|639335|639336|639337|639338|652121|652169|652356|724133|737661|744520|752350|752351|752352|752354|768082|779659|799626|820285|837532|837533|837534|837535|837536|837537|837538|837539|837540|837541|837542|837543|925988|925989|925990|940975|947162|956292|960737|964669", + "text": "Agammaglobulinemia 4, autosomal recessive" + }, + { + "baseId": "20547|20548|20549|20550|191037|191669|191905|192116|194391|227364|266817|266928|267366|272444|275002|321759|321760|321761|321765|321768|321774|321776|321781|321783|321784|321785|321787|321789|321797|321799|321800|321802|321803|321804|321810|321811|321818|321819|321823|321825|331063|331067|331078|331079|331095|331101|331102|331109|331110|331111|331115|331117|331125|331126|331129|331133|337830|337833|337846|337851|337852|337854|337857|337858|337859|337861|337864|337868|337869|337872|337874|337882|337895|337896|337899|337901|337908|337915|337931|339811|339812|339819|339825|339826|339831|339832|339836|339839|339840|339841|339845|339846|339847|339857|339858|339864|339870|339874|339875|339879|339889|339891|339892|339893|339894|339901|339902|339906|339915|339919|373947|374411|374415|376267|376275|433989|433991|445262|463596|497041|504909|504914|504919|505589|528808|528854|568334|568336|568337|569066|569067|569069|572969|572972|572976|588802|610502|610508|610510|620498|642782|642783|642784|642785|642786|642787|642788|654766|656273|656274|679926|679927|679928|679929|725858|725859|725861|730965|739391|739393|739395|754212|769954|799786|841904|841905|841906|841907|852019|872925|872926|872927|872928|872929|872930|872931|872932|872933|872934|872935|872936|872937|872938|872939|872940|872941|872942|872943|872944|872945|872946|872947|872948|872949|872950|872951|872952|872953|872954|872955|872956|872957|872958|872959|872960|872961|872962|872963|872964|872965|876465|876466|876467|927195|927196|948724|948725|957338|957339|957340", + "text": "Achondrogenesis, type IA" + }, + { + "baseId": "20547|513449|513450|610502|610504|610505|610507", + "text": "Goldblatt hypertension" + }, + { + "baseId": 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+ "text": "Charlevoix-Saguenay spastic ataxia" + }, + { + "baseId": "20562|133805|133806|133807|133808|133809|207213|207213|237097|237122|297310|297311|297312|297316|297317|297326|299313|299315|299316|299317|299318|299328|299329|299332|299333|303522|303527|303528|303529|303532|303535|303538|303540|303541|303542|303545|303765|303767|303778|303790|303807|303809|303815|303819|303828|303849|303850|303856|368156|369835|369853|494217|494217|501183|588163|588758|620195|790551|790552|830836|894114|894115|894116|894117|894118|894119|894120|894121|894122|894123|894124|894125|894126|894127|894128|894129|894130|894131|894132|894133|894134|894135|894136|896091", + "text": "Alpha-methylacyl-CoA racemase deficiency" + }, + { + "baseId": "20562|20563|207213|494217", + "text": "Congenital bile acid synthesis defect 4" + }, + { + "baseId": "20564|20565|53873|53875|53876|53877|53881|150263|176490|178715|189965|192360|198471|198473|213643|273206|338243|344342|344344|344346|344351|345772|467823|513211|802218|877391|877392|877393|877394|877395", + "text": "Autosomal recessive limb-girdle muscular dystrophy type 2G" + }, + { + "baseId": "20564|20566|27746|53870|53872|53873|53873|53874|53874|53875|53875|53876|53876|53877|53877|53877|53878|53879|53880|53881|53881|176490|176490|176492|176628|176629|178715|178715|187657|187659|187659|189965|189965|192359|198471|198471|198472|198473|198473|198474|198477|198478|198480|224514|224515|242733|242734|242735|259005|259007|266688|267457|268263|270405|273206|273206|274882|338243|344342|344344|344346|344351|345772|401951|422163|441954|466769|467648|467816|467818|467823|467824|468001|468005|487689|510738|510739|531105|531182|569020|571313|571315|574447|645828|645829|645830|645831|645832|645833|845249|845250|845251|845252|845253|845254|877391|877392|877393|877394|877395|928240|928241|937901|937902|937903|949892|949893|958094|958095", + "text": "Hypertrophic cardiomyopathy 25" + }, + { + "baseId": "20566|23641|23642|23643|23647|23647|23649|23651|23653|23655|23656|23658|23660|39098|39099|45263|45264|45266|45266|45269|45272|45275|45276|45277|45725|51668|51669|51673|51676|51678|51685|51688|51691|51694|51695|51703|51705|51706|51710|51711|51713|51715|51716|51719|51732|51733|51735|51736|51737|51738|51742|51746|51747|51747|51755|51755|51769|51777|51777|51778|51780|51788|51789|51790|51796|51797|51805|51806|51808|51814|51815|51817|51821|51822|51823|51826|51828|51833|51834|51836|51839|51841|51852|51857|51858|51860|51862|51870|51873|51875|51876|51876|51879|51881|51882|51885|51889|51895|51896|51905|51906|51910|51914|51922|51926|51928|51930|51931|51933|51937|51938|51941|51942|51945|51947|51948|51949|51950|51956|51959|51962|51962|51963|51966|51967|51970|51971|51974|51976|51977|51977|51980|51983|51985|75578|75580|142020|142022|142024|142029|165560|165560|171133|171136|171136|171139|171141|171142|171143|171144|171145|171146|171147|172177|174731|174737|174756|174757|174761|174764|174770|174773|174775|174776|174776|174778|174779|174785|175138|175139|175143|175146|175150|175168|175171|175175|175188|175197|175201|175203|179171|179196|179223|179232|179233|179266|179279|179299|179321|179338|179343|179351|179357|179373|179397|186345|186368|186384|186400|186404|186405|189889|193011|212928|212929|213610|214109|214110|214111|214112|214113|214115|214116|214117|214119|214120|222146|248633|248634|248635|260509|314276|320888|326913|326929|326930|326931|326940|326949|327964|327976|327977|362227|371466|372203|372209|374122|384440|390042|398206|398754|404802|415274|418554|419284|424284|430964|430982|434640|461358|461632|461652|461957|461980|462012|504238|508865|508866|512848|512849|512927|513091|526245|564717|613612|615940|617882|620403|625810|625811|679781|791140|791141|791142|818289|868092|868093|868094|868095|868096|868097|868098|868099|868100|868101|868102|868103|868104|868656|868657|868658|919366|919367|948496|966806|974493|980341", + "text": "Familial hypertrophic cardiomyopathy 4" + }, + { + "baseId": "20568|20569|20569|20570|20571|20571|20571|101477|101478|101478|152864|152864|152865|177019|177282|188865|188865|255338|255339|255339|266504|271074|323250|323250|323251|323259|323259|323260|323266|323267|323270|323277|323283|323284|332935|332936|332942|332943|332946|332951|332952|332960|332962|332962|332965|332968|339806|339813|339814|339821|339823|341239|341242|341243|341247|341248|353881|415445|488487|547507|547508|547511|547514|547516|547531|547533|547535|547539|547541|547544|547548|547739|547750|547752|548162|548164|548166|548167|548169|548173|548174|548174|714579|754646|754647|754648|770312|770314|770315|784992|784993|787896|800699|842642|842649|842650|874060|874061|874062|874063|874064|874065|874066|874067|874068|874069|874070|874071|874072|876563|876564|919593", + "text": "Enhanced s-cone syndrome" + }, + { + "baseId": "20569|20571|20571|188865|620527", + "text": "NR2E3-Related Disorders" + }, + { + "baseId": "20569|20571|20572|20573|101477|101478|101478|152864|152865|181279|188865|188865|188868|255339|255339|271074|323250|323259|332962|415445|488487|547507|547508|547511|547514|547516|547531|547533|547535|547539|547541|547544|547548|547739|547750|547752|548162|548164|548166|548167|548169|548173|548174|714579|754648|779806|842650|874065|874066|874073", + "text": "Retinitis pigmentosa 37" + }, + { + "baseId": "20571|101477|177019|177282|188865|255338|255339|271074|323267|332946|332962|415445|547750|623884|726224|726225|754648|770313|776093|797186|799817|842640|842641|842642|874063|874064|957486|957489|957492|979636|979637|979638|979639|979640|979641|979642|979643|979644|979645|979646|979647|979648|979649|979650|979651|979652|979653|979654|979655|979656", + "text": "Goldmann-Favre syndrome" + }, + { + "baseId": "20574|20575", + "text": "Asthma-related traits, susceptibility to, 5" + }, + { + "baseId": "20576|20577|76651|76652|76655|76656|187109|237011|285197|285198|285199|285206|285212|285213|285871|285872|285873|285874|285890|285891|285894|288158|288161|288165|288166|288172|288173|288174|288178|288179|288180|288582|288584|288585|288586|288587|288593|288598|288600|288600|288602|288604|288606|288610|353562|450684|450762|450762|450764|450769|512809|516210|517874|517876|517879|517954|517956|557900|557902|557953|557955|561026|561039|561040|561044|576099|620068|629521|629522|629523|629524|629525|629526|629527|629528|629529|629530|629531|629532|629533|629534|629535|629536|629537|629538|708089|719690|719691|719693|719694|719695|733248|747395|747397|747399|759106|763031|763033|763036|819015|819135|825828|825829|825830|825831|825832|825833|825834|825835|825836|825837|825838|825839|825840|825841|825842|825843|851158|851406|884086|884087|884088|884089|884090|884091|884092|884093|884094|884095|884096|884097|884098|887307|887308|887309|887310|931173|931174|931175|942639|942640|942641|942642|952964|952965|960465|980413", + "text": "Hepatic veno-occlusive disease-immunodeficiency syndrome" + }, + { + "baseId": "20580|181292", + "text": "Periodic paralysis" + }, + { + "baseId": "20580|56917|172391|360851|677212|858248|965299|966322", + "text": "Syncope" + }, + { + "baseId": "20580|24422|33099|45303|51657|52214|52852|56289|56302|56725|56834|78541|178442|178587|178612|178738|178748|178751|186553|188445|188662|189293|189476|196540|198436|224325|224357|224385|224454|224543|360883|513956|679381", + "text": "Ventricular fibrillation" + }, + { + "baseId": "20580|20581|131959|188516|188517|254321|258710|389949|389950|461990|526477|526536|526541|526772|567545|567549|640464|687824|839007", + "text": "Brugada syndrome 6" + }, + { + "baseId": "20580|131959|432260|432261|432262", + "text": "Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities" + }, + { + "baseId": "20582|20583|20583|20584|54668|54669|54670|186435|193603|227351|319135|333885|413171|415371|527511|641581|652763|840578|957027", + "text": "Deafness, autosomal dominant 3b" + }, + { + "baseId": "20583|20583|20583|20584|20584|20586|54667|54668|54668|54669|54669|54670|54670|54671|54673|175769|186435|186435|193603|193603|269638|319127|319135|319135|319136|319140|319142|319151|327587|327588|327593|327594|327596|327597|327606|327612|327613|333867|333869|333878|333880|333885|333885|333886|333888|335558|335559|335562|335566|335567|335577|335578|415371|527511|641581|652763|656196|738987|840578|870846|870847|870848|870849|870850|870851|870852|870853|870854|870855|870856|870857|870858|870859|957027", + "text": "Hidrotic ectodermal dysplasia syndrome" + }, + { + "baseId": "20583|20583|20584|20585|32039|32039|32040|32040|32041|32041|32042|32042|32043|32043|32044|32045|32046|32048|32049|32049|32052|32053|32053|32053|32055|32055|32056|32062|32062|32063|32064|32066|32068|32068|32071|32072|32074|32075|34237|34239|34240|34241|44941|44942|44943|44943|53882|53883|53884|53887|53888|53891|53892|53895|53896|53899|53900|53902|53903|53903|53904|53904|53905|53906|53907|53907|53909|53910|53911|53912|53914|53915|53916|53916|53918|53918|53919|53920|53921|53922|53923|53924|53925|53927|53928|53929|53930|53930|53931|53932|53933|53934|54668|54669|54670|90208|100288|100290|100292|169009|169010|169011|169013|175762|175904|175905|175906|175909|177744|186432|186435|186853|186854|186855|186856|186857|186858|186859|186860|186861|186862|186863|186864|190031|192365|192366|192367|193603|208014|227135|227136|227213|227350|227350|230434|230437|247434|247435|260039|269143|273253|319120|319122|319135|327572|327575|327578|327579|327582|327583|327586|333862|333863|333864|333885|335544|335547|335548|335549|335550|335552|335553|335557|358128|358129|358130|358131|358132|358133|358134|358135|359996|362175|375519|415371|432239|432240|432241|432242|432244|432245|441576|441582|441583|445122|487388|487602|490937|527511|546771|546777|546778|546781|546783|546785|546787|546792|546794|546920|546930|546932|546940|546941|546944|546952|547082|547084|547088|547090|547096|547102|547105|547109|547112|547296|547302|547303|547307|547319|547327|547328|547329|547331|547338|551725|581737|615784|615817|620467|620469|621385|621386|622693|641581|652763|681835|784536|784538|793458|840578|870831|870832|870833|870834|870835|870836|870837|870838|870839|870840|870841|870842|870843|870844|870845|906208|957027|979357|979358|979359", + "text": "Deafness, autosomal recessive 1A" + }, + { + "baseId": "20583|20583|20584|20585|32039|32040|32041|32042|32043|32049|32053|32055|32062|32068|53903|53904|53907|53916|53918|53930|54668|54669|54670|186435|193603|227351|319135|333885|415371|527511|641581|652763|840578|904218|957027", + "text": "Deafness, autosomal recessive 1b" + }, + { + "baseId": "20583|26716|26717|26718|26719|26720|26721|26722|26723|49893|49894|52519|52521|52522|166083|176453|237626|339618|349115|352457|352458|352965|389256|404600|415371|551802|590644|615835|800323|800324|903250|903251|903252|903253|903254", + "text": "Deafness, X-linked 2" + }, + { + "baseId": "20585|20587|32043", + "text": "Deafness, digenic, GJB2/GJB6" + }, + { + "baseId": "20588|20589|20590|20591|20592|20593|20594|266325|271393|320090|320091|320093|320094|320095|320099|320101|320105|320107|320109|320110|320113|320116|320117|320118|320119|320123|328635|328637|328638|328640|328641|328642|328646|328649|328653|328666|328669|328680|328685|328686|328704|328705|335195|335204|335219|335225|335233|335234|335236|335238|335239|335247|335257|335262|335281|335282|335285|335298|335302|335306|335308|335310|335313|335326|337079|337080|337083|337087|337090|337096|337099|337101|337103|337110|337113|337119|337125|337147|337148|337155|337158|337163|337168|337169|337182|586697|725530|871570|871571|871572|871573|871574|871575|871576|871577|871578|871579|871580|871581|871582|871583|871584|871585|871586|871587|871588|871589|871590|871591|871592|871593|871594|871595|871596|871597|871598|871599|871600|871601|871602|871603|871604|871605|871606|871607|871608|872348|872349", + "text": "Autosomal recessive omodysplasia" + }, + { + "baseId": "20595|135828|135829|150252|190425|194385|194918|195660|195661|239020|239021|248759|248760|266968|287435|287436|287438|287442|287444|287445|287447|287451|287452|287456|288222|288228|288229|288231|288251|288252|290891|290893|290902|290905|290923|290925|290926|291159|291167|291168|353577|353578|361612|393118|451472|451477|451727|451934|451940|451941|513527|513609|518646|518648|558688|558690|559164|559189|559190|559191|560979|560983|560985|560987|560990|562095|614253|630596|630597|630598|630599|630600|630601|630602|630603|630604|653855|683518|683519|683520|686268|689720|719987|816446|819277|827077|827078|827079|827080|827081|827082|827083|827084|827085|885587|885588|885589|885590|885591|885592|885593|885594|885595|885596|885597|885598|885599|885600|885601|887409|887410|922937|922938|922939|922940|931607|931608|931609|931610|931611|940725|943138|943139|943140|943141|943142|943143|953246|953247|953248", + "text": "Salt and pepper developmental regression syndrome" + }, + { + "baseId": "20597|20598|20599|20600|20601|20602|20603|171168|171169|171170|205209|222387|222388|222389|222390|222391|241876|241877|241878|241879|241880|241881|241882|241883|241884|241885|241886|241887|241888|255063|255064|255065|321373|321378|321381|321383|321389|321390|321391|321393|321394|321395|321400|321402|321407|330601|330612|330613|330615|330619|330621|330629|330633|330636|337218|337219|337223|337227|337229|337237|337238|337240|337242|337243|337245|337248|337250|337252|337255|337260|337269|339151|339162|339163|339171|339177|339184|339187|339189|339193|339196|339201|339215|339216|339225|399719|399721|399724|399726|399728|399737|399738|399908|399910|399911|399912|399915|399918|399919|399920|399922|400258|400260|400262|400266|400267|400267|400271|400274|400275|400277|400280|400293|400295|400487|400495|400497|400515|400520|400525|400526|400533|400534|409151|409152|463477|463486|463493|463497|464080|464082|464087|464088|464094|464096|464358|464361|464364|464369|464370|464386|464387|464481|464486|464489|464491|464493|464494|464497|485662|528274|528283|528287|528289|528295|528299|528300|528360|528363|528367|528370|528371|528372|528713|528717|528719|528725|528729|528734|528748|528752|528758|528759|528810|528812|528813|528819|528825|528827|528828|528838|528842|566612|566616|566618|566625|566628|568268|568271|568272|568274|568279|568281|569018|569019|569021|569022|569024|572899|572900|572911|572913|572914|572915|572919|572924|642686|642687|642688|642689|642690|642691|642692|642693|642694|642695|642696|642697|642698|642699|642700|642701|642702|642703|642704|642705|642706|642707|642708|642709|642710|642711|642712|642713|642714|642715|642716|642717|642718|642719|642720|642721|642722|642723|642724|642725|642726|642727|642728|652971|652974|684522|684523|684524|684525|684526|688357|688358|688359|688361|688362|688363|688364|688366|688369|693599|702991|725811|725813|725814|739339|776305|784789|841726|841727|841728|841729|841730|841731|841732|841733|841734|841735|841736|841737|841738|841739|841740|841741|841742|841743|841744|841745|841746|841747|841748|841749|841750|841751|841752|841753|841754|841755|841756|841757|841758|841759|841760|841761|841762|841763|841764|841765|841766|841767|841768|841769|841770|841771|841772|841773|841774|841775|872632|872633|872634|872635|872636|872637|872638|872639|872640|872641|872642|872643|872644|872645|872646|872647|872648|872649|872650|872651|872652|872653|872654|872655|872656|872657|872658|872659|872660|872661|872662|872663|872664|872665|872666|872667|872668|872669|872670|872671|872672|872673|876449|876450|927159|927160|927161|927162|927163|927164|927165|927166|927167|927168|927169|927170|927171|927172|927173|927174|936711|936712|936713|936714|936715|936716|936717|936718|936719|936720|936721|936722|936723|936724|936725|936726|936727|936728|936729|940314|940315|948652|948653|948654|948655|948656|948657|948658|948659|948660|948661|948662|948663|948664|948665|948666|948667|948668|957299|957300|957301|957302|957303|957304", + "text": "Hereditary nonpolyposis colorectal cancer type 7" + }, + { + "baseId": "20599|32117|32118|32119|32120|32123|32124|32126|32127|32128|32129|32130|32131|32133|32135|32136|32137|32138|32138|32140|32141|32144|32145|38609|38610|38612|45201|45202|45202|45203|45204|45205|45207|45208|45209|45210|45212|45215|45218|45219|45220|45221|50071|50071|50072|50072|50073|50074|50075|50076|50077|50078|50079|51666|79740|79742|95060|95061|95062|95063|95064|95067|95074|95078|95079|95079|95088|95117|95127|95127|95130|95162|95164|95170|95179|95179|95186|95211|95218|95218|95219|95225|95225|95227|95229|95257|95265|95267|95286|95324|95331|95357|95362|95369|95377|95380|95381|95404|95405|95406|95406|95427|95455|95466|95475|95481|95484|95485|95487|95488|95488|95490|95506|95516|95524|95527|95541|95552|95556|95556|95574|95575|95578|95586|95592|95600|95601|95606|95606|95614|95622|95622|95625|95650|95650|95657|95658|95671|95697|95703|95717|95731|95734|95755|95759|95760|95765|95767|95777|95780|95780|95785|95792|95793|95805|95809|95821|95829|95848|95855|95856|95865|95866|95871|95884|95887|95892|95898|95916|95916|95919|95926|95926|95927|95930|133066|133068|133069|133070|133071|133072|133072|133073|133074|133076|133076|136506|138395|138396|138397|139300|139556|139557|139558|139559|139565|141933|150473|150473|151156|151605|151990|152372|152378|152604|152694|180128|180138|180140|180142|180145|180148|180149|180152|180153|181203|181204|182215|182223|182224|182226|182235|182236|182239|182251|182252|182256|182257|182257|182265|182268|182276|182278|182281|182281|182282|182287|182288|182292|186016|186017|190024|212297|212305|212322|212324|212327|214628|221383|221389|221394|221395|221396|221397|221398|221405|231616|231617|232906|232916|232918|232919|232933|232954|232970|232979|239144|239148|239149|239158|239159|239160|239176|239185|290136|290137|294018|294022|294543|294552|294554|358735|358736|358737|358738|358739|358740|358741|358742|358743|358744|358745|358746|358747|358748|368417|368440|368462|393482|393502|393512|393843|393915|406198|406206|406222|406233|406236|427213|432572|443419|443422|452376|452387|452453|473370|473413|473493|473568|473649|473667|480464|483541|483578|537752|537753|539233|539234|558896|562700|575698|575699|575700|575701|575702|575707|576258|789083|790382|790383|790384|790385|790386|790387|790388|790389|790390|799033|888749|888750|903520|961842|967148", + "text": "Lynch syndrome II" + }, + { + "baseId": "20604|20605|20606|76616|76617|76618|76619|76620|101479|101480|101481|105678|105679|105680|105683|105685|105686|105687|105689|105690|105694|105695|105697|106462|177290|177472|193623|193625|193626|195369|195369|256338|275237|329401|329410|329412|329418|329421|329426|329430|329440|329442|329444|329445|329448|329449|329452|339690|339706|339707|339710|339715|339716|339722|339724|339730|339737|339740|339742|345426|345432|345436|345437|345443|345449|345456|345458|345460|345462|345465|346798|346799|346800|346801|346803|346806|346812|346815|346816|346818|346819|413455|569528|569530|578348|578349|626259|694163|694164|704291|704293|727351|727352|771727|797589|800611|845909|845910|845911|845912|845913|845914|845915|845916|845917|845918|845919|845920|845921|852906|860427|878167|878168|878169|878170|878171|878172|878173|878174|878175|878176|878177|878178|878179|878180|878181|878182|878183|878184|878185|878186|878187|878188|878189|904952|904953|904954|904955|904956|904957|904958|904959|904960|904961|904962|904963|920605|940427|950147|950148|950149|950150|950151|950152|950153|958250|960892", + "text": "Leber congenital amaurosis 4" + }, + { + "baseId": "20604|620600|620601", + "text": "AIPL1-Related Disorders" + }, + { + "baseId": "20607", + "text": "Juvenile retinitis pigmentosa, AIPL1-related" + }, + { + "baseId": "20607", + "text": "CONE-ROD DYSTROPHY, AIPL1-RELATED" + }, + { + "baseId": "20608|20609|20610|20611|20612|20613|20615|20616|20616|20617|20617|20618|20618|20619|20619|204427|253014|253015|253016|263045|263045|270799|307588|307605|307633|312643|312646|312652|312662|312727|312731|360897|360897|432057|432058|432059|432060|432061|432062|432063|432064|432064|432065|432066|432067|432068|432069|432070|432071|432071|432072|432073|432073|432074|432075|432076|432077|432078|432079|432080|432081|432082|432083|432084|432085|432086|432087|457129|513582|523431|561897|561898|562335|562337|564540|564578|567295|590566|590567|590568|611976|623186|636540|636541|636542|636543|651910|679759|682809|700352|700353|700356|722803|722804|736399|736400|782983|819934|834034|834035|834036|834037|834038|834039|834040|834041|919135|924980|924981|924982|934063|934064|934065|955274|959873|961031|969545|970060", + "text": "Trichorhinophalangeal dysplasia type I" + }, + { + "baseId": "20614|20616|20616|20617|20617|20618|20619|253014|253015|263045|270799|307588|307605|307633|312643|312646|312652|312662|312727|312731|360897|432064|432071|432073|457129|523431|561897|561898|562335|562337|564540|564578|567295|636540|636541|636542|636543|651910|700352|700353|700356|722803|722804|736399|736400|782983|819934|834034|834035|834036|834037|834038|834039|834040|834041|924980|924981|924982|934063|934064|934065|955274|959873", + "text": "Trichorhinophalangeal syndrome, type III" + }, + { + "baseId": "20620|20621|20622|20624|20625|20626|20627|20628|288750|288755|288757|288758|288776|288777|289500|289512|289525|289528|289529|289531|289534|289547|289549|289550|289551|289556|289557|289559|289562|289572|292536|292537|292551|292552|292557|292560|292562|292564|292567|292569|292570|292573|292740|292741|292744|292748|292749|359526|364253|887975|887976|887977|887978|887979|887980|887981|887982|887983|887984|887985|887986|887987|887988|887989|887990|887991|887992|887993|887994|887995|887996|887997|887998|887999|888000|888001|891566|891567|891568", + "text": "Familial benign pemphigus" + }, + { + "baseId": "20630|20631|20632|20637|20639|20642|132422|133499|133499|133501|133503|133507|133511|133513|133516|133520|133523|133527|133529|133532|133532|133546|133549|137627|150646|150652|150673|151095|151570|151691|151755|151936|152066|152162|152193|152247|152670|181100|181106|181116|181122|213482|213483|236606|236634|404360|410931|410948|410967|432970|480377", + "text": "Li-Fraumeni syndrome 2" + }, + { + "baseId": "20630|20641", + "text": "Cancer of multiple types, susceptibility to" + }, + { + "baseId": "20630|20640|20641|27286|28045|133499|133528|152066|480186|485382|849160", + "text": "Prostate cancer, susceptibility to" + }, + { + "baseId": "20630|20642|133499|133517|133521|133525|133532|151497|151580|152238|185633|213475", + "text": "Breast and colorectal cancer, susceptibility to" + }, + { + "baseId": "20630", + "text": "Gastrointestinal carcinoma" + }, + { + "baseId": "20630|27405|28691|28692|28939|29011|30972|30973|32619|32621|32623|32626|32627|32628|48304|53980|83949|133277|139098|151476|185394|206650|213392|213402|222738|232035|236461|236477|263939|359197|362753|362774|362826|362895|362896|363112|363121|363269|363273|363313|363360|363438|363439|363440|363441|363442|363461|363462|363463|363503|363504|363505|363506|363507|363508|363529|363530|363534|363535|363545|363546|363547|363548|363569|363570|363571|420661", + "text": "Adrenocortical carcinoma" + }, + { + "baseId": "20630|21681", + "text": "Colon cancer, susceptibility to" + }, + { + "baseId": "20631|20637|20642|132422|133499|133510|133511|133513|133517|133525|133527|133530|133532|133534|133538|137627|140445|140450|150526|151051|151853|151923|152075|152615|152670|181095|185589|185619|185630|222878|236586|236589|236596|236681|337709|337711|351277|352332|404384|539411|891034|891035|891036", + "text": "CHEK2-Related Cancer Susceptibility" + }, + { + "baseId": 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+ "text": "Li-Fraumeni syndrome" + }, + { + "baseId": "20633|20634|20637|20639|20642|26767|27398|27419|28126|29022|132342|132422|133499|133501|133503|133507|133511|133513|133516|133520|133523|133529|133532|133549|137627|137844|150646|150652|150673|151095|151570|151691|151755|151936|152066|152193|152247|181100|181106|181116|181122|213483|236606|236634|404360|410931|410948|410967|432384|432970|462915|463279|463892|480377|568568", + "text": "Osteosarcoma" + }, + { + "baseId": "20635|20636|20637|20638|20639|21959|22608|22609|22610|22611|22612|22869|22870|24848|24856|24870|24872|24873|24874|24875|33206", + "text": "Prostate cancer, somatic" + }, + { + "baseId": 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+ "text": "Malignant tumor of prostate" + }, + { + "baseId": "20647|20648|188992|188992|205143|238018|359518|389198|413665|431671|551532|622344|790453|790454|790455|790456|790457", + "text": "Retinitis pigmentosa 41" + }, + { + "baseId": "20649|101228|101229|101230|101233|106455|177982|188992|188992|190494|191235|238018|251364|251366|251367|251368|251369|271311|273551|273853|292683|292686|292688|292691|292699|292700|292702|292704|292711|294050|294067|294069|294070|294071|294072|294073|294074|294076|294078|294079|294080|294081|294082|297480|297481|297486|297488|297491|297493|297494|297497|297508|297519|297520|297521|297522|297535|297539|297546|297553|297554|297555|297557|297564|297565|297569|297593|297594|297616|297620|297621|367970|413665|431669|624036|672055|709217|720819|764376|795555|799346|828937|828938|890363|890364|890365|890366|890367|890368|890369|890370|890371|890372|890373|890374|890375|890376|890377|890378|890379|890380|890381|890382|890383|890384|890385|890386|890387|891764|891765|891766|891767|891768|920468", + "text": "Stargardt disease 4" + }, + { + "baseId": "20649|101228|101229|101230|101233|106455|177982|188992|188992|190494|191235|238018|251364|251366|251367|251368|251369|271311|273551|273853|292683|292686|292688|292691|292699|292700|292702|292704|292711|294050|294067|294069|294070|294071|294072|294073|294074|294076|294078|294079|294080|294081|294082|297480|297481|297486|297488|297491|297493|297494|297497|297508|297519|297520|297521|297522|297535|297539|297546|297553|297554|297555|297557|297564|297565|297569|297593|297594|297616|297620|297621|367970|413665|431669|624036|672055|709217|720819|764376|795555|828937|828938|890363|890364|890365|890366|890367|890368|890369|890370|890371|890372|890373|890374|890375|890376|890377|890378|890379|890380|890381|890382|890383|890384|890385|890386|890387|891764|891765|891766|891767|891768", + "text": "Bull's eye macular dystrophy" + }, + { + "baseId": "20649|101228|101229|101230|101233|106455|177982|188992|188992|190494|191235|238018|247774|247775|251364|251366|251367|251368|251369|271311|273551|273853|292683|292686|292688|292691|292699|292700|292702|292704|292711|294050|294067|294069|294070|294071|294072|294073|294074|294076|294078|294079|294080|294081|294082|297480|297481|297486|297488|297491|297493|297494|297497|297508|297519|297520|297521|297522|297535|297539|297546|297553|297554|297555|297557|297564|297565|297569|297593|297594|297616|297620|297621|359518|367970|413665|431669|551535|612177|624036|672055|709217|720819|764376|790457|795555|828937|828938|890363|890364|890365|890366|890367|890368|890369|890370|890371|890372|890373|890374|890375|890376|890377|890378|890379|890380|890381|890382|890383|890384|890385|890386|890387|891764|891765|891766|891767|891768|918885|918886", + "text": "Cone-rod dystrophy 12" + }, + { + "baseId": "20650|20651|20652|194449|227506|247519|247520|247521|266498|269503|361467|368113|368405|368578|369816|369819|576114|633792|633793|661121|672062|709843|735031|749438|782249|830691|966609", + "text": "Ehlers-Danlos syndrome progeroid type" + }, + { + "baseId": "20652|39530|189008|512850|526327|526510|538425|564770|565897|640199|701843|712963|724533|738076|738079|738080|791146|838638|935636|935637|966612|966613", + "text": "Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects" + }, + { + "baseId": "20652|620945", + "text": "Lethal skeletal dysplasia" + }, + { + "baseId": "20653|512903|538985", + "text": "Spinocerebellar ataxia type 12" + }, + { + "baseId": "20654|20654|20660|34345|34345|71190|71191|71192|71193|71194|71195|71196|71197|71198|71199|81406|106600|135763|177111|178074|189016|189016|195713|199786|236898|301018|301020|301022|301028|301029|301030|301031|301037|303989|303999|304000|304001|304002|308691|308696|308697|308703|308704|308706|308707|308712|308715|308717|308724|308726|308730|308749|308751|308763|308768|308783|308784|357500|357501|357502|357503|357504|357505|357506|357507|357508|357509|357510|357511|357512|357513|357514|357515|424602|433918|433918|521556|543963|543966|543969|543972|544241|544291|544293|544304|544305|544306|544309|544313|544314|544315|544317|544318|544319|544322|544326|549612|549613|563689|635138|651595|710598|710599|722131|735766|735767|744145|750215|765816|765817|777755|782641|795894|819747|819748|832347|832348|832349|858695|896829|896830|896831|896832|896833|896834|896835|896836|896837|896838|896839|896840|896841|896842|896843|896844|933455|940853|940854|940855|945172|945173|954879|961607|978347|978348|978349|978350|978351|978352|978353", + "text": "Salla disease" + }, + { + "baseId": "20654|20654|20655|20656|20657|20658|20659|20660|34345|34345|106600|135763|189016|189016|195713|199786|236898|301018|301020|301022|301028|301029|301030|301031|301037|303989|303999|304001|304002|308691|308696|308703|308704|308706|308707|308712|308715|308717|308724|308726|308730|308749|308751|308763|308768|308783|433918|433918|549612|549613|710598|722131|777755|795894|858695|896829|896830|896831|896832|896833|896834|896835|896836|896837|896838|896839|896840|896841|896842|896843|896844|961607", + "text": "Sialic acid storage disease, severe infantile type" + }, + { + "baseId": "20663|20664|20665|20666|40213|40215|45765|47518|47519|47521|241829|320390|320391|320394|320395|320398|329051|329057|329062|329069|329079|335686|335692|335694|335700|335702|337516|337521|337528|337529|337537|337542|337545|404815|642324|841346|841348|871750|871751|871752|871753|871754|871755|871756|965227|980474", + "text": "Dyskeratosis congenita, autosomal dominant, 3" + }, + { + "baseId": "20663|20665|20666|22358|22359|22360|22361|22362|22364|22365|27774|39221|47518|47519|47520|47521|47522|47523|47524|47525|47526|47527|47529|47530|47531|47706|47709|47711|47712|47713|47714|47716|47717|47718|47724|47725|47732|47885|47886|47888|47891|47892|47894|47898|47899|47901|47902|47903|47905|47906|47907|49399|239114|239115|239116|393355|393357|393580|393582|428162|428163|430376|430379|430380|430383|451923|451925|451930|451935|451942|451943|452134|452391|518964|518966|518969|518976|519133|519135|519140|519142|519143|519147|533714|533717|558834|559369|559371|559373|559375|559377|561247|561257|562555|562558|562559|571397|610682|612141|624259|631030|631031|631032|631033|631034|631035|631036|631037|631038|631039|631040|631041|631042|631043|631044|631045|648808|648822|648841|728803|728806|742535|742543|742545|742547|742548|745443|757675|757680|757681|760966|773207|773248|786442|786452|786461|819350|819351|819352|827662|827663|827664|827665|827666|827667|827668|827669|827670|827671|827672|827673|827674|827675|827676|827677|827678|827679|827680|827681|827682|827683|905005|905006|923087|923088|923089|923090|923091|923092|923093|923094|931821|931822|931823|931824|931825|931826|931827|931828|931829|931830|931831|943399|943400|943401|943402|943403|943404|943405|953382|953383|953384|953385|953386|953387|961227|961228", + "text": "Dyskeratosis congenita, autosomal dominant 1" + }, + { + "baseId": "20664|40214|47518|47519|47521|241829|320390|320391|320394|320395|320398|329051|329057|329062|329067|329069|329079|329081|335686|335687|335692|335694|335700|335702|337516|337517|337521|337528|337529|337537|337542|337545|404815|642324|841346|841348|871750|871751|871752|871753|871754|871755|871756|980474", + "text": "Revesz syndrome" + }, + { + "baseId": 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950435|950436|950437|950438|950439|950440|950441|950442|950443|950444|951689|951690|951691|954117|954118|954119|957198|957199|958415|958416|958417|958418|958419|958420|958421|958422|958423|958424|958425|959210|959211|959212|959213|959214|960087|960256|960371|960803|960904|980023|980024|980025|980026|980027|980028|980029|980030|980031|980032", + "text": "Dyskeratosis congenita" + }, + { + "baseId": "20667|20668|20669|20670|20671|20672|98423|195209|256412|256413|329950|329951|329955|340217|340219|345929|345931|345936|345937|345944|345948|345956|347277|347283|347286|347287|347291|468839|469088|531770|548333|548335|548342|548346|548354|548357|548358|548362|548366|548368|548370|548374|548376|548378|548381|548384|548386|548716|548725|548732|548736|548739|548740|548746|549104|549109|549110|549117|549128|549131|588980|646696|694202|694203|694204|694205|695776|695777|704378|704379|704380|704381|704382|704383|715708|715709|715710|727444|741037|741038|741039|741041|756131|771829|771830|771831|771832|771833|771835|771837|785744|785745|791828|791829|846199|878487|878488|878489|878490|878491|878492|878493|878494|878495|878496|878497|941197|950288|950289|958310|958311|958312|972276|972277|972278|972279|972280|979920|979921|979922", + "text": "Deficiency of galactokinase" + }, + { + "baseId": "20673|797963", + "text": "Hereditary cerebral amyloid angiopathy, Icelandic type" + }, + { + "baseId": "20674", + "text": "Age-related macular degeneration 11" + }, + { + "baseId": "20675|20676|34342|171741|171742|171743|186791|200615|200616|200617|200620|200621|200622|200623|200624|200625|200626|200627|200629|200630|200631|200632|200633|200634|200635|200636|200637|200638|200639|200640|200641|200642|200643|200644|200645|200646|200647|200648|200649|200650|253558|308348|308350|308351|312797|312798|312799|318643|318649|318650|318651|319209|319215|319241|357806|357807|357808|357809|357810|357811|357812|357813|357814|357815|357816|357817|415197|544915|544917|545179|545181|545183|545188|545192|545193|545194|545280|545285|545287|545289|545292|545294|545462|545463|545467|545483|545484|545495|545503|545510|545512|545519|545523|545534|545537|545540|545541|545546|590449|620334|711977|751716|751717|767421|767425|783410|787810|818273|902062|902063|902064|902065|902066|902067|902068|902069|902070|902071|902072|902073|902074|902075|955856|972042|972043|972044|978587|978588|978589|978590|978591|978592", + "text": "Primary hyperoxaluria, type II" + }, + { + "baseId": "20675|20683|20685|20970|27267|200501|236723|260799|303427|539124|539125|539126|539134|539135|539136|539143|539152|539154|625971", + "text": "Nephrocalcinosis" + }, + { + "baseId": "20676|20684|20685|38436|150264|171741|186650|186661|200432|200435|200495|200503|200506|200515|200558|200572|200634|288981|311821|311826|311840|323489|324115|324127|324128|621110|858754", + "text": "Primary hyperoxaluria" + }, + { + "baseId": "20677|21231|22804|22805|22806|27398|27403|27406|28938|28940|29009|29010|29011|40563|45735|87659|87660|150535|176503|242978|362755|363053|363096|363097|363179|363247|363248|363249|363250|363251|363291|363292|363327|363337|363338|363376|363377|363378|363398|363399|363400|363401|363402|363403|363538|363542|363543|363544|363560|363561|363562|363563|363564|363565|789985|789986|789987", + "text": "Non-Hodgkin lymphoma" + }, + { + "baseId": "20679|20680|20681|20682|20683|20684|20685|20686|20687|20688|20689|38436|48085|48086|98222|98223|150264|150265|186650|186651|186652|186653|186654|186655|186656|186657|186658|186659|186660|186661|186662|186663|195195|195847|196142|200411|200412|200413|200414|200415|200416|200417|200418|200419|200420|200421|200422|200423|200424|200425|200426|200427|200428|200429|200430|200431|200432|200433|200434|200435|200436|200437|200438|200439|200440|200441|200442|200443|200444|200445|200446|200447|200448|200449|200450|200451|200452|200453|200454|200455|200456|200457|200458|200459|200460|200461|200462|200463|200464|200467|200468|200469|200470|200471|200472|200473|200474|200475|200476|200477|200478|200479|200480|200481|200482|200483|200484|200485|200486|200487|200488|200489|200490|200491|200492|200493|200494|200495|200496|200497|200498|200499|200500|200501|200502|200503|200504|200505|200506|200507|200508|200509|200510|200511|200512|200513|200514|200515|200516|200517|200518|200519|200520|200521|200522|200523|200524|200525|200526|200527|200528|200529|200530|200531|200532|200533|200534|200535|200536|200537|200538|200539|200540|200541|200542|200543|200544|200545|200546|200547|200548|200549|200550|200551|200552|200553|200554|200555|200556|200557|200558|200561|200562|200563|200564|200565|200566|200567|200568|200569|200570|200571|200572|200573|200574|200575|200576|200577|200578|200579|200580|200581|200582|200583|200584|200585|200586|200587|200588|200589|200590|200591|200592|200593|200594|200595|200596|200597|200598|200599|200600|200601|200602|200603|200604|200605|200606|200607|200608|200609|200610|200611|200612|200613|200614|250698|272486|273346|285570|285575|285582|286268|286269|286278|288590|288591|288592|288982|288983|289001|289002|357248|367164|541941|541943|541949|541950|542041|542045|542050|542053|542075|542081|542185|542186|542188|542189|542191|542193|620074|697482|719760|730126|733347|733348|733350|747469|747470|790221|826108|884407|884408|884409|884410|884411|884412|884413|884414|884415|884416|884417|884418|884419|884420|887330|961570|971787|971788|971789|971790|971791|971792|977706|977707|977708|977709", + "text": "Primary hyperoxaluria, type I" + }, + { + "baseId": "20690|20691|20692|20693|20694|20695|508763|508764|508765|590697|672209|672210|672211|672212|672213|672214|672215|672216|672217|788732|789891|961824|963118|963119|964139|975891|980900", + "text": "Camptodactyly-arthropathy-coxa vara-pericarditis syndrome" + }, + { + "baseId": "20696|20697|20698|20699|20700|20701|20702|20703|20704|20705|20706|20707|20708|20709|20710|20711|20712|20713|20714|20715|20716|185965|185966|185967|185968|194975|205235|206997|206998|212144|212145|212146|212147|212148|213538|213539|216738|216739|216740|216741|216742|216743|216744|216745|216746|216747|216748|216749|216750|216751|216752|216753|216754|216755|216756|216757|216758|216759|216760|216761|216762|216763|216764|216765|216766|216767|216768|216769|216770|216771|216772|216773|216774|216775|216776|216777|216778|216779|216780|216781|216782|216783|216784|216785|221175|221176|221177|221178|221179|221180|227916|238765|238766|238767|238768|238769|248484|259736|262398|286122|286130|286137|286139|286140|286142|286143|286144|286153|286155|286168|286173|286174|286852|286859|286864|286868|286870|286875|286879|286889|286890|286897|286898|286911|286914|286916|286927|286929|286930|289184|289189|289200|289202|289204|289207|289208|289209|289211|289212|289214|289215|289217|289226|289228|289231|289498|289511|289514|289526|289530|289542|289552|289555|289564|289568|289569|289576|289592|366539|384433|391351|391550|392653|392683|392691|392807|392811|392815|393011|393012|393018|393020|404605|404606|405721|420990|425489|425490|425493|434579|440698|440700|440701|440704|440706|440709|440711|440714|440716|440717|443240|448395|448543|448547|448596|450867|450870|450871|450889|450992|450994|450998|451180|451182|451183|451187|451190|451192|451198|451204|451205|451207|481473|481474|481652|499920|511419|513925|514466|516225|516228|518183|518185|518186|518188|518191|518192|518193|518195|518197|518240|518246|518251|518253|518301|518305|518306|518311|518317|518321|550352|551616|552065|557440|557491|557493|558071|558073|558075|558077|558081|558432|558434|558436|558438|558440|558442|558444|558446|558448|558450|560621|560623|560625|560627|561472|561494|561495|561496|561497|561500|561502|561505|576683|576687|576692|609147|609162|612140|622324|623591|629953|629954|629955|629956|629957|629958|629959|629960|629961|629962|629963|629964|629965|629966|650758|650800|650802|650811|650832|650955|650956|650958|683501|686203|686204|763198|763199|790229|790230|790231|790232|790233|790234|790235|792977|794011|798508|819157|819158|819159|819160|819161|819162|819163|819164|819165|819166|819167|826419|826420|826421|826422|826423|826424|826425|826426|826427|826428|826429|826430|826431|826432|826433|826434|826435|826436|826437|826438|884791|884792|884793|884794|884795|884796|884797|884798|884799|884800|884801|884802|884803|884804|884805|884806|884807|884808|884809|884810|884811|887361|887362|918770|918771|920175|920176|922753|922754|922755|922756|922757|922758|931386|931387|931388|931389|931390|931391|931392|931393|931394|939891|939892|940707|940708|940709|942896|942897|942898|942899|942900|942901|942902|942903|942904|942905|942906|953085|953086|959641|964199|969711|976031|976032|984251", + "text": "Spastic paraplegia 4, autosomal dominant" + }, + { + "baseId": "20710|20711", + "text": "Spastic paraplegia 4, modifier of" + }, + { + "baseId": "20717|20718|20719|20720|20721|20722|20723|20724|65567|141579|142784|142785|142786|142787|142788|142789|142790|142791|211962|211965|338573|338576|338577|348160|348162|348165|351824|351825|351827|352678|352679|377583|689294|786642|788946|891500|891501|891502|919959", + "text": "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency" + }, + { + "baseId": "20717|20720|65567|211965", + "text": "Myopia 6" + }, + { + "baseId": "20720|153385|177103|181399|203840|203843|225802|225802|225802|225802|225802|263309|263410|268631|360940|513921|513949|513961|513984|513986|514013|514110|514321|514323|514331|514332|514333|514334|514335|626420|921239|921240|921241|921242|966614|971562", + "text": "Severe global developmental delay" + }, + { + "baseId": "20725|20726|20727|20728|20729|20730|20731|20732|39367|187689|191369|191369|191537|194164|194191|196235|196235|207865|207865|265791|266013|266013|267194|267194|270150|270796|270796|270975|270975|270976|272453|272453|272457|272457|274999|274999|314192|314197|314198|314211|314214|314215|314218|314221|314221|314230|314230|314232|314232|314233|314235|314236|314240|314240|314245|314249|314249|314250|320769|320771|320774|320775|320780|320780|320781|320783|320783|320786|320787|320788|320790|320790|320796|320798|320818|320820|320821|320821|320834|320837|320837|320850|320852|320852|320855|320855|320863|320864|320871|320873|326814|326817|326820|326822|326824|326840|326842|326843|326846|326846|326853|326853|326855|326855|326858|326859|326859|326861|326866|326867|326872|326874|326875|326875|326887|326887|326891|326891|327779|327782|327784|327787|327788|327795|327795|327798|327798|327799|327800|327800|327811|327817|327817|327818|327830|327830|327831|327840|327844|327845|327847|327858|327858|327859|327869|327869|327870|327882|327885|360043|360043|371427|420287|429241|444807|444807|461121|461131|461137|461332|461332|461333|461623|461623|461624|461625|461626|461627|461630|461932|461939|461943|461953|488690|488691|488694|526218|526218|526223|526224|526224|526226|526227|526228|526409|526415|526429|526434|526706|526708|526713|526713|526715|526719|564646|564647|564651|564654|564655|564662|564669|564671|564671|565803|565805|567275|567276|567280|567282|570669|570670|570671|570673|626206|640069|640070|640071|640072|640073|640074|640075|640076|640077|640078|640079|640080|640081|640082|640083|640084|640085|640086|640087|640088|640089|640089|640090|652547|693032|693033|693033|693034|693037|693037|693039|693039|693040|693042|693042|693043|693044|693045|695516|695518|701776|701776|701777|701778|701778|701780|712847|712848|712849|712849|724460|724462|724464|752689|768468|784012|796596|796596|838472|838473|838474|838475|838476|838477|838478|838479|838480|838481|838482|838483|838484|838485|838486|852613|868036|868037|868038|868039|868040|868041|868042|868043|868044|868045|868046|868047|868048|868049|868050|868051|868052|868053|868054|868055|868056|868057|868058|868059|868060|868061|868062|868063|868064|868065|868066|868067|868068|868069|868070|868071|868072|868073|868074|868075|868076|868077|868078|868079|868080|868653|868654|926251|926252|926253|926254|926255|935567|935568|935569|935570|935571|935572|935573|935574|935575|935576|940214|940998|947480|947481|947482|947483|956513|956514|956515|959990|970936", + "text": "Cenani-Lenz syndactyly syndrome" + }, + { + "baseId": "20733|20734|20736|20737|196286|196287|266578|272001|273741|466808|467667|468076|485862|490861|508752|513224|531010|531132|531154|531502|531503|531505|531509|531510|531512|571113|571114|571115|571342|574455|574456|624628|645875|645876|645877|645878|645879|645880|645881|645882|645883|645884|645885|645886|652955|715456|727177|727178|727179|740747|740748|744956|755838|755839|755842|771491|771492|771494|785559|785560|785562|816341|845324|845325|845326|845327|845328|845329|845330|845331|845332|928258|928259|928260|937925|937926|937927|937928|949915|949916|949917|958105|961974|964479|980482", + "text": "Growth hormone insensitivity with immune dysregulation 1, autosomal recessive" + }, + { + "baseId": "20742|20743", + "text": "Focal segmental glomerulosclerosis 3" + }, + { + "baseId": "20745|20746|20747|20748|20750|20751|20752|33860|34280|34282|34283|34284|34285|34286|34288|34289|213653|226392|226393|227930|227931|227932|227933|410555|805031|917757|917758", + "text": "Cold-induced sweating syndrome 1" + }, + { + "baseId": "20753|20754|20755|20756|204422", + "text": "PULMONARY ALVEOLAR MICROLITHIASIS" + }, + { + "baseId": "20757|20758|20759|20760|20762|20763|20764|20765|20767", + "text": "Cerebral cavernous malformations 1" + }, + { + "baseId": "20760|20767|252960|252961|252964|252965|252966|259875|259877|259880|264247|270303|290221|293317|303552|303557|303560|303561|303562|303566|303568|303570|306979|306988|306989|306996|306998|307003|307005|307010|307011|307013|307014|311871|311876|311877|311882|311883|311886|311887|311888|311891|311895|311896|311899|311904|311907|311910|311912|311913|311914|311917|311920|311926|311929|311930|311931|311942|311946|311949|311950|311954|311955|353642|359673|361189|418980|418981|418984|418989|418992|433658|441149|444174|456163|456165|456854|456856|457060|457061|457065|457570|457571|457572|457573|457577|457668|457669|457673|457675|458018|458021|458024|458026|458036|458038|481793|495222|512828|512829|513975|522652|523471|523473|553155|561160|561802|562247|562258|564478|564482|567215|567217|581340|581356|581369|581376|581382|581391|581396|581401|581408|636173|636437|636438|636439|636440|636441|636442|651698|678067|692328|692330|695372|711180|722719|744375|750827|766441|788820|819922|833915|833916|833917|833918|833919|833920|833921|833922|833923|833924|851163|851662|852382|898468|898469|898470|898471|898472|898473|898474|898475|898476|898477|898478|898479|898480|898481|898482|898483|898484|898485|898486|898487|898488|898489|898490|898491|898492|898493|898494|898495|898496|900410|900411|900412|919120|919121|919122|924932|934022|934023|934024|934025|945784|945785|955239|955240|955241|959869|960640|964294", + "text": "Cerebral cavernous malformation" + }, + { + "baseId": "20761", + "text": "Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations" + }, + { + "baseId": "20766", + "text": "Cavernous malformations of CNS and retina" + }, + { + "baseId": "20768|20769|20769|20770|20771|20771|20772|20772|20775|20775|20776|20777|20778|20778|20779|48213|48213|48213|102552|105758|105759|105761|105763|105767|105772|105776|105776|105777|105778|105783|105792|105795|105798|105802|105803|105806|106486|152885|177057|177649|192603|192604|195794|213518|227208|237970|259643|269623|270116|271416|271821|271909|274234|274238|278321|278346|279448|279452|279468|279470|279529|279532|279540|279543|279544|279547|279548|359259|359284|361578|364061|405000|405002|413257|431564|431566|431567|431570|439631|447357|447613|511211|556722|557082|578340|609365|611502|619983|623792|627197|627198|627199|627200|627201|650540|690437|690438|696356|696357|696359|696361|706969|706970|706971|706972|718484|718486|731981|731983|745954|745955|745957|761434|761437|761438|761439|761440|761441|761442|761443|780413|780414|780415|780417|780418|780420|780422|780423|780430|780431|786971|789907|818891|818892|818893|818894|823108|823109|823110|823111|823112|823113|823114|823115|823116|823117|823118|823119|823120|823121|823122|823123|823124|823125|823126|823127|823128|823129|823130|823131|823132|823133|823134|823135|823136|823137|823138|823139|823140|823141|850953|850955|855867|855873|855889|858435|863227|921779|921780|921781|921782|921783|930205|930206|930207|930208|930209|930210|939783|939784|941618|941619|941620|941621|941622|941623|941624|941625|941626|941627|941628|941629|941630|941631|952181|952182|952183|952184|952185|952186|952187|952188|952189|952190|952191|952192|952193|952194|952195|952196|952197|952198|952199|952200|959535|959536|964096", + "text": "Retinitis pigmentosa 12" + }, + { + "baseId": "20769|48213|102552|270116|431560|619982|619983", + "text": "CRB1-Related Disorders" + }, + { + "baseId": "20769|20769|20771|20771|20772|20772|20773|20774|20775|20775|20777|20777|20778|20778|20779|48213|48213|48213|102552|102552|102553|105755|105758|105758|105759|105761|105761|105762|105763|105764|105765|105767|105767|105769|105771|105772|105772|105776|105776|105777|105777|105778|105780|105782|105783|105786|105787|105789|105791|105792|105793|105795|105795|105798|105802|105802|105803|105803|105806|105806|106486|106486|152885|152885|166165|177057|177057|177649|177649|192603|192603|192604|195794|227208|227208|237970|249592|259643|260774|269623|270116|271416|271821|271909|274234|274234|274238|278311|278320|278321|278321|278335|278346|278346|278348|278353|278354|278358|279441|279448|279448|279452|279452|279453|279462|279468|279468|279470|279470|279527|279528|279529|279529|279530|279532|279532|279539|279540|279540|279542|279543|279543|279544|279544|279547|279547|279548|279564|279572|359259|359284|361578|364061|364061|405000|405002|413257|413258|418814|431564|431566|431567|431568|431570|439631|447357|447613|498168|511211|513238|556722|557082|578336|578337|578338|578339|578340|578340|609365|611502|611502|619983|622989|622990|623792|623792|627197|627198|627199|627200|627200|627201|650540|690437|690438|696356|696357|696359|696361|696361|706969|706969|706970|706971|706971|706972|718484|718486|731981|731983|745954|745955|745957|761434|761437|761438|761439|761440|761441|761442|761443|780413|780414|780415|780417|780418|780420|780422|780423|780430|780431|786971|789907|789908|800423|800684|802118|818891|818892|818893|818894|823108|823109|823110|823111|823112|823113|823114|823115|823116|823117|823118|823119|823120|823121|823122|823123|823124|823125|823126|823127|823128|823129|823130|823131|823132|823132|823133|823134|823135|823136|823137|823138|823139|823140|823141|850953|850955|855862|855867|855873|855889|855891|858435|858885|863217|863218|863219|863220|863221|863222|863223|863224|863225|863226|863227|863227|863228|863229|863230|863231|863232|863233|863234|863235|863236|921779|921780|921781|921782|921783|930205|930206|930207|930208|930209|930210|939783|939784|941618|941619|941620|941621|941622|941623|941624|941625|941626|941627|941628|941629|941630|941631|952181|952182|952183|952184|952185|952186|952187|952188|952189|952190|952191|952192|952193|952194|952195|952196|952197|952198|952199|952200|952200|959535|959536|962195|962196|962197|962198|962199|962200|962201|962202|962203|962204|962205|962206|962207|962208|962209|962210|962211|962212|962213|962214|962215|962216|962217|962218|962219|962220|962221|962222|962223|962224|962225|962226|962227|962228|962239", + "text": "Leber congenital amaurosis 8" + }, + { + "baseId": "20772|20777|48213|48213|102553|105758|105761|105762|105767|105776|105795|105803|106486|177649|192603|227208|249592|274234|278311|278313|278320|278321|278335|278346|278348|278353|278354|278358|279441|279448|279452|279453|279462|279468|279470|279527|279528|279529|279530|279532|279539|279540|279542|279543|279544|279547|279548|279564|279565|279572|361578|498168|696361|706969|706971|777027|850955|855891|863217|863218|863219|863220|863221|863222|863223|863224|863225|863226|863227|863228|863229|863230|863231|863232|863233|863234|863235|863236|918584|918585|918586|918587|918588", + "text": "Pigmented paravenous chorioretinal atrophy" + }, + { + "baseId": "20778|76480|622989|622990|962958", + "text": "Early-onset retinal dystrophy" + }, + { + "baseId": "20780|59436|226728|236972|237070|264778|337543|337551|337552|337555|337559|337560|337568|337570|337575|337586|337588|337590|337594|337596|337597|337599|337600|337602|337605|347118|347123|347125|347128|347129|347133|347139|347144|347145|347152|347153|347156|347161|347162|347165|347166|347172|347176|347177|347180|347184|347188|351151|351156|351157|351161|351162|351163|351164|351169|351170|351173|351174|351177|351179|351181|351182|351183|351184|351187|351188|351191|351192|351193|352155|352156|352157|352170|352173|352174|352175|352176|352189|352190|352191|352193|352195|352197|352208|352210|352211|352212|352213|352214|352215|486775|742770|890881|890882|890883|890884|890885|890886|890887|890888|890889|890890|890891|890892|890893|890894|890895|890896|890897|890898|890899|890900|890901|890902|890903|890904|890905|890906|890907|890908|890909|890910|890911|890912|890913|890914|890915|890916|890917|890918|890919|890920|890921|890922|890923|890924|890925|890926|890927|890928|890929|890930|891806|891807|891808|891809|891810", + "text": "CEDNIK syndrome" + }, + { + "baseId": "20781|20782|20783|20784|20785|20786|20787|672074|790843|790844|966796", + "text": "Ichthyosis prematurity syndrome" + }, + { + "baseId": "20789", + "text": "SLC22A4 POLYMORPHISM" + }, + { + "baseId": "20790|20791|20792|20793|106512|106513|279937|280263|280267|281549|281569|281575|281577|281731|281732|513403|685091|864085|865153|980903", + "text": "Diamond-Blackfan anemia 7" + }, + { + "baseId": "20790|20793|21218|21353|21354|22285|38387|138201|142629|238349|238350|238351|238352|238353|239901|239902|240848|243028|243344|243345|257848|259941|265986|279937|281549|281569|281575|283380|286176|289621|299917|302550|302559|302560|302561|306938|306941|306942|311239|311253|316666|322671|322683|322688|323397|323402|333684|333685|333686|349024|349036|353154|353494|353570|353770|364821|391375|391418|391435|391438|395711|397422|401529|403743|404264|404581|429129|429130|430809|447927|448377|448444|455562|455708|467380|467887|468836|468838|470262|471606|471610|472161|514914|515586|515657|515668|515705|516100|533129|535006|535011|535177|535178|540580|540581|556497|557170|557382|557384|557386|557429|558042|569420|573141|573452|574743|575425|575426|627541|628280|628281|628282|628283|628284|628285|634868|634869|639180|639181|647075|648142|648143|650088|650089|650090|650544|650701|653053|653530|653617|684197|685017|685018|685019|685091|685460|685490|685644|688879|689519|689521|689522|689823|694432|695909|706246|818936|819687|820242|821508|823641|823642|824435|824436|824437|831868|847728|847729|850105|850106|850107|850108|850762|851324|852873|922170|924343|928658|928980|929753|929754|929755|929756|930385|930386|930669|930670|938702|938703|938704|941820|942108|942109|950806|950807|952530|954430|959312|960386|969273|969274|974532", + "text": "Diamond-Blackfan anemia" + }, + { + "baseId": "20794|20795|20796|20797|20798|166239", + "text": "Hypogonadotropic hypogonadism 8 without anosmia" + }, + { + "baseId": "20798|20799|788933", + "text": "Precocious puberty, central, 1" + }, + { + "baseId": "20800|20801|20802|20803|20804|20805|20806|40212|46931|46932|313558|313576|313577|313583|313584|313588|313597|313615|313617|319779|319789|319798|325939|325940|325946|325957|325977|325983|326890|326893|326919|326932|326944|526015|526096|526168|564538|565583|565587|570423|620831|639857|639858|652168|652521|791122|850651|850652|850654|850655|868687|929864|939732|939733|951945|951946", + "text": "Hyperekplexia 3" + }, + { + "baseId": "20807|20808|20809|20810|20811|20812|20813|20814|20815|20816|20817|20818|31810|100283|100284|194386|195323|252985|252986|252987|265352|270083|271457|303658|303661|303663|307107|307108|307109|312035|312036|312037|312040|312045|312048|312055|312056|361528|384418|407282|407283|441161|441163|441164|456169|457102|457105|457115|457117|457677|457684|457686|457737|458100|458105|458108|458112|480429|481462|522658|522936|522950|523154|523160|523162|523385|523389|523400|523403|523408|523499|523500|523501|523505|523506|523510|523512|561162|561839|561842|561845|562310|562311|564526|564528|564539|567270|567277|567285|567287|567288|612148|612792|636473|636474|636475|636476|636477|636478|636479|636480|636481|636482|636483|636484|636485|636486|636487|636488|636489|636490|636491|651737|683948|683949|687139|687141|692333|692334|692335|759668|766486|787530|790764|796098|798593|798594|798595|801548|833981|833982|833983|833984|833985|833986|833987|833988|833989|833990|833991|833992|833993|833994|833995|833996|833997|851664|898556|919128|924952|924953|924954|924955|924956|924957|924958|924959|924960|924961|934045|934046|934047|940090|945803|945804|945805|955262|955263|955264|964914", + "text": "Myoclonic dystonia" + }, + { + "baseId": "20819|20820|20821|20822|20823|20824|20825|20826|20827|20828|20829|20830|20831|20832|33154|33155|33156|33157|33158|33159|33160|33161|45755|69569|171225|205188|209345|227246|227403|244022|268512|269547|272434|286469|286471|286473|286482|286483|286486|286487|287133|287135|287139|287161|287162|287165|287166|287167|287168|287176|287178|289505|289508|289513|289516|289518|289519|289520|289926|289928|289929|289935|289939|289940|289946|289949|289950|289951|289953|333045|333055|333057|333070|333073|333077|333082|333085|333089|343164|343169|343170|343175|343176|343180|343185|343190|343191|343193|348548|348551|348552|348553|348555|348557|348558|349632|349633|349634|349636|349637|349638|349639|349641|349642|349643|362173|389208|424992|493438|516320|518239|539087|539126|550747|553488|560637|619928|620632|630008|630009|650756|708286|708287|708288|708289|708290|716354|719882|719883|733483|733484|733485|733486|733487|741765|747648|747649|759122|792540|792548|818336|819169|819170|826488|826489|880254|880255|880256|880257|880258|880259|880260|880261|880262|880263|880264|880265|880266|880267|880268|880269|880270|885004|885005|885006|885007|885008|885009|885010|885011|885012|885013|885014|885015|885016|885017|885018|885019|885020|885021|885022|885023|885024|885025|885026|885027|885028|885029|885030|885031|885032|887371|887372|887373|887374|904185|919847|922775|922776|931409|940479|942924|942925|942926|962800|966574|966575|970741|980389", + "text": "Cystinuria" + }, + { + "baseId": "20837|20838|20839|20840|20841|20842|20843|20844|20845|20846|20847|20848|20849|20850|20851|20852|20853|20854|20856|20857|20858|20859|20860|79700|79703|79706|79711|79714|227331|253373|253376|253377|253379|253380|253381|253382|253383|253384|253385|253386|253388|253389|253390|253391|253392|253395|253396|253397|253399|253400|253402|307292|307293|307294|307299|307301|307304|307308|307309|307311|311534|311540|311542|311544|311565|311566|311601|311604|311606|311608|311615|317068|317069|317083|317091|317093|317096|317098|317099|317100|317103|317529|317532|317533|317535|317537|317539|317546|317554|389201|432301|432349|444392|489471|550300|620323|620324|620810|654534|700873|723417|736981|736983|736984|790858|901331|901332|901333|901334|901335|901336|901337|901338|901339|901340|901341|901342|901343|901344|901345|901347|901348|901349|901350|901351|901353|901354|901355|901356|901357|901358|901359|901361|901362|901363|901364|901365|901366|901367|901368|901369|901370|901371|901372|901373|901374|901375|901376|901377|901378|901379|903335|903336|903337|903338|903339", + "text": "Upshaw-Schulman syndrome" + }, + { + "baseId": "20861|20862|273931", + "text": "Pelviscapular dysplasia" + }, + { + "baseId": "20863|22491|22492|22493|23266|23267|23575|23577|23578|27410|27621|27622|36173|36186|39106|150842|151001|151068|151879|151912|151967|181036|181065|181068|181081|185427|185438|222800|292721|292762|292764|292770|292771|294114|294120|297568|297580|297641|297667|403225|410379|468948|468989|618896|919817|920397", + "text": "Carcinoma of pancreas" + }, + { + "baseId": "20865|20866|20867|20868|20869|20870|20871|20872|141196|141197|141198|141199|169273|169274|169275|169276|169277|169278|169279|169280|169281|169282|169283|169284|169285|169286|169287|169288|169289|169290|169292|169293|169294|169294|169295|169296|169297|169298|169300|169301|169302|169303|187126|191554|208292|208293|255846|255849|255850|260119|271363|271431|271506|360182|413442|422101|429817|429818|441917|489311|506394|513635|536910|577559|577560|577560|587647|608863|620935|714996|740281|740282|755282|755284|755285|755287|770983|770986|770987|770989|776186|785329|785330|785334|785338|785339|875607|875608|875609|875610|875611|875612|875613|875614|875615|875616|875617|875618|875619|875620|875621|875622|875623|875624|875625|875626|875627|875628|875629|875630|875631|875632|875633|875634|875635|875636|875637|875638|875639|875640|875641|875642|875643|875644|875645|875646|875647|875648|875649|875650|875651|875652|875653|875654|875655|875656|875657|875658|875659|875660|875661|875662|875663|875664|875665|875666|875667|875668|875669|875670|875671|875672|875673|875674|875675|875676|875677|875678|875679|876690|876691|965998|972795|976666|979808|979809", + "text": "Polymicrogyria, bilateral frontoparietal" + }, + { + "baseId": "20873|20874|20875|20876|20877|39364|101336|101337|101338|101339|101340|135129|135130|177357|177851|195708|195709|251716|251717|251720|265307|265425|266359|267501|270431|270834|272640|273196|273196|274719|295480|295481|295486|295488|295488|297264|297267|297276|301110|301111|301113|301114|301267|425620|454519|454535|455066|455067|455068|455070|455374|455378|455385|491123|520740|520744|520993|521137|521138|521191|560147|562804|562806|564740|564746|587282|589437|589543|633219|633220|633221|633222|633223|633224|633225|633226|633227|779071|787461|830206|830207|830208|830209|830210|830211|830212|851911|893018|893020|893021|893023|893024|893025|893026|893027|896036|923838|923839|932686|944368|944369|944370|944371|954014", + "text": "Myofibrillar myopathy 3" + }, + { + "baseId": "20874|136760|361048", + "text": "Progressive distal muscle weakness" + }, + { + "baseId": "20874|206864|360820|514132", + "text": "Progressive proximal muscle weakness" + }, + { + "baseId": "20878|101337|101338|101339|101340|135129|135130|177852|195708|195709|265307|273196|273196|295480|295481|295485|295486|295488|295488|297261|297264|297267|297276|301110|301111|301112|301113|301114|301267|301277|511554|589437|893018|893019|893020|893021|893022|893023|893024|893025|893026|893027|896036", + "text": "Spheroid body myopathy" + }, + { + "baseId": "20879|20880|20881|20882|20883|20884|20885|20886|99346|195268|227285|512904", + "text": "Congenital stationary night blindness, type 1B" + }, + { + "baseId": "20888|20891|20892|20896", + "text": "Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant" + }, + { + "baseId": 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937112|937113|940333|941097|941098|949047|949048|949049|949050|949051|949052|949053|949054|949055|949056|957529|957530|957531|957532|957533|957534|957535|957536|957537|960124|971028|971029", + "text": "Progressive sclerosing poliodystrophy" + }, + { + "baseId": "20888|28535|28535|28541|28541|28542|28542|28544|28544|28545|28546|28552|28552|28554|28555|76573|142453|142463|190806|193515|202922|202938|202949|202990|203013|203013|203024|203030|203034|203050|203057|242144|264890|513353|539063|553152|576169|614404|801729", + "text": "Mitochondrial DNA depletion syndrome 4B, MNGIE type" + }, + { + "baseId": "20891|20897|214080|250081|250084|448754|918179|918180", + "text": "Non-syndromic oligodontia" + }, + { + "baseId": "20897", + "text": "Hair morphology 1, hair thickness" + }, + { + "baseId": "20897|165611|165614|165619|172936|250083|250084|281511|281513|281518|281520|281521|281522|281529|281533|281537|281539|282145|282146|282147|282150|282152|282182|282184|282199|282214|282216|282223|283512|283515|283516|283517|283525|283530|283531|283532|283546|283549|283550|283551|283629|283642|283646|283656|283657|283659|283660|283667|283675|353535|690703|880825", + "text": "Hypohidrotic Ectodermal Dysplasia, Dominant" + }, + { + "baseId": "20900|24081", + "text": "Hypercholesterolemia, susceptibility to" + }, + { + "baseId": "20902|20903|20904|20905|330271|330273|330277|330279|330287|330290|330297|330300|330301|330303|330306|330309|330311|330312|330319|330323|340477|340479|340485|340486|340489|340499|340509|340515|340518|340520|340522|340524|340528|340530|340531|340535|340537|340544|340545|340549|346200|346201|346203|346207|346209|346216|346218|346219|346220|346221|346230|346231|346232|346241|346242|346243|346245|346246|346255|346259|347507|347510|347513|347514|347521|347526|347529|347534|347537|347542|347546|347547|347550|347553|347556|347558|347564|347567|347573|347574|347575|347579|347580|347583|347586|508889|508890|508891|727464|727465|741064|756168|756169|878660|878661|878662|878663|878664|878665|878666|878667|878668|878669|878670|878671|878672|878673|878674|878675|878676|878677|878678|878679|878680|878681|878682|878683|878684|878685|878686|878687|878688|880610", + "text": "Amyotrophy, hereditary neuralgic" + }, + { + "baseId": "20906|20907|20908|20909|20910|101080|101081|329991|330034|330041|340261|340263|340264|346015|346017|347316|347318|347321|347326|347327|378783|486816|486817|532174|571600|620891|672105|694207|694208|704385|846242|846243|878516|878517|878522|878523|878524|878525|878526|878527|878528|878529|919772|958325|983743", + "text": "MPDU1-CDG" + }, + { + "baseId": "20911|20912|45934|45935|45936|45938|45939|132507|132510|132511|132516|133447|133449|133450|133455|133458|133461|133463|133464|133465|133469|133470|133477|133480|150482|150622|150625|150644|150645|150653|150759|150766|150820|150865|151031|151610|152152|152155|152494|152729|180236|180237|182498|182503|182519|182523|182531|182588|182591|182598|182629|182658|212471|212486|221571|221577|227276|233249|233267|233354|233392|233398|233407|239694|239712|251668|358785|358786|394679|454545|454975|474047|474068|474083|474196|474235|474264|474352|521131|539248|539249|539250|539251|539252|539253|560174", + "text": "Nijmegen breakage syndrome-like disorder" + }, + { + "baseId": "20913|20914|20915|20916|20917|134430|134431|134432|134433|134434|134435|190459|190460|204423|207029|287509|287513|287515|287516|287518|287519|287520|287523|287527|288279|288282|288283|288285|288286|288287|288290|288291|288292|288293|288294|290983|290984|291001|291019|291033|291035|291045|291047|291070|291074|291080|291226|291227|291239|291240|291243|291247|291251|291255|353579|380202|428103|428104|513044|708408|719999|733617|798515|885630|885631|885632|885633|885634|885635|885636|885637|885638|885639|885640|885641|885642|885643|885644|885645|885646|885647|885648|885649|885650|980908", + "text": "Wolcott-Rallison dysplasia" + }, + { + "baseId": 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+ "text": "Oligodontia-colorectal cancer syndrome" + }, + { + "baseId": "20922|140034|140035|140036|140038|140043|140044|140045|140046|140047|140048|140049|140050|140052|140053|178586|178587|178589|188434|188435|188458|188459|188463|189264|189285|189287|189291|189300|194666|212621|212622|221747|240192|258510|311851|396100|404774|457532|457989|481131|512827|625804|636409|799517|799518|799519|799520|919118|919119", + "text": "Long QT syndrome 11" + }, + { + "baseId": 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+ "text": "Xeroderma pigmentosum variant type" + }, + { + "baseId": 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+ "text": "Familial hyperkalemic periodic paralysis" + }, + { + "baseId": "20935|20936|20939|20961", + "text": "Paramyotonia congenita/hyperkalemic periodic paralysis" + }, + { + "baseId": 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+ "text": "Paramyotonia congenita of von Eulenburg" + }, + { + "baseId": "20939|65738|79451|263271|360889|513940|514033|514074|801513|965484|965579", + "text": "Focal seizures" + }, + { + "baseId": "20940", + "text": "Paramyotonia congenita/myotonia congenita" + }, + { + "baseId": 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+ "text": "Potassium-aggravated myotonia" + }, + { + "baseId": "20941|20957|20958", + "text": "Normokalemic periodic paralysis, potassium-sensitive" + }, + { + "baseId": "20945", + "text": "Myotonia congenita, atypical, acetazolamide-responsive" + }, + { + "baseId": "20948", + "text": "SCN4A-related disorder" + }, + { + "baseId": 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+ "text": "Hypokalemic periodic paralysis, type 2" + }, + { + "baseId": 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+ "text": "Hypokalemic periodic paralysis 1" + }, + { + "baseId": "20953|34005|34006|34013|34014|91506|98768|98768|98770|98770|98771|98771|135674|135674|135675|135675|135676|135676|135677|135678|135678|135679|135680|135681|135681|135682|135683|135683|135684|135685|135686|135686|135687|135687|135688|135688|152918|178051|191494|192958|194295|213911|247138|256315|256316|256317|256318|256319|256320|256321|256322|256323|256327|256327|256329|256332|256333|256335|256336|256337|329360|329362|329367|329369|329371|329373|329379|329380|329382|329383|329385|329389|329390|329392|329395|329397|329399|339613|339614|339615|339620|339621|339625|339628|339637|339639|339643|339644|339649|339650|339652|339653|339654|339656|339658|339662|339663|339663|339669|339670|339672|339673|339679|339681|339683|339684|339686|339687|339689|345371|345376|345377|345380|345382|345384|345386|345389|345394|345398|345399|345401|345403|345404|345406|345408|345412|345415|345416|345419|345423|345424|345424|345425|346746|346753|346755|346760|346762|346764|346768|346772|346773|346775|346778|346779|346781|346786|346786|346789|346790|346791|346792|346793|346797|422187|426240|442008|467224|468176|468535|531474|531569|531714|531926|569488|569512|571437|571456|574567|577672|646390|646397|646412|646434|656460|694143|694149|694153|694160|704284|704290|740942|797587|798721|798722|845908|878131|878132|878133|878134|878135|878136|878137|878138|878139|878140|878141|878142|878143|878144|878145|878146|878147|878148|878149|878150|878151|878152|878153|878154|878155|878156|878157|878158|878159|878160|878161|878162|878163|878164|878165|878166", + "text": "Congenital myasthenic syndrome, acetazolamide-responsive" + }, + { + "baseId": "20964|20965|20966|20967|20968|20969|20970|20971|20972|20973|20974|20975|20976|20977|20979|39362|251068|266845|289715|289720|289721|289724|289725|290487|290488|290489|290490|290494|290500|290501|290508|290510|293566|293570|293577|293578|293606|293610|293621|293622|293624|293644|294147|294148|294149|294155|294157|294163|294166|294167|294173|294176|294177|294178|294179|294182|432291|536194|536195|551446|679900|720351|790374|888526|888527|888528|888529|888530|888531|888532|888533|888534|888535|888536|888537|888538|888539|888540|888541|888542|888543|888544|888545|888546|888547|888548|888549|888550|888551|888552|888553|888554|888555|888556|888557|888558|888559|891630|921194|962698|970763", + "text": "Primary hypomagnesemia" + }, + { + "baseId": "20978", + "text": "Hypercalciuria, childhood, self-limiting" + }, + { + "baseId": "20980", + "text": "Hypertension, diastolic, resistance to" + }, + { + "baseId": "20992|20993|172315|172315|172317|172319|366990|366994|368248|500572|518913|519128|538972|562485|562493|630982|630983|630984|827613|827614|931798|943367|953362", + "text": "Glycogen storage disease XV" + }, + { + "baseId": "20994|20995|20996|20997|20998|20999|21000|21001|21002|21003|135764|135765|135766|265447|277092|277098|277101|277102|277109|277129|277131|277132|277134|277142|277367|277368|277371|277386|277388|277391|277392|277399|277400|277407|277414|278152|278186|278187|278202|278207|278216|278218|278225|278230|278232|278233|278234|278245|278255|364528|425321|485690|485691|498115|590454|590455|619963|620707|794474|862676|862677|862678|862679|862680|862681|862682|862683|862684|862685|862686|862687|862688|862689|862690|862691|862692|862693|862694|862695|862696|862697", + "text": "Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness" + }, + { + "baseId": "21004|21005|21006|21007|21009|21010|88254|106456|177385|178020|227323|263798|265746|305498|305503|314723|431733|513070|551554|551555|551556|788828|799550|799551|799552|799553|799554|799555|818257|919160|919161|970882", + "text": "Retinitis pigmentosa 1" + }, + { + "baseId": "21011|21012|94254|364011|404818|463433|463435|463436|464000|464001|464017|464328|464330|464336|464337|464344|464443|464445|464446|464453|486753|486754|486755|527836|528268|528323|528324|528329|528331|528336|528339|528341|528698|528703|528780|566587|566601|567758|568236|568237|568238|572615|572884|572885|572890|642635|642636|642637|642638|652358|652560|652964|725762|739285|778076|778293|784746|784747|787976|820634|820635|820636|820637|820638|820639|820640|820641|841663|841664|841665|841666|841667|841668|841669|841670|841671|841672|841673|851571|851573|852011|927147|927148|927149|936685|936686|936687|940310|941065|948632|948633|948634|957264|960096", + "text": "Molybdenum cofactor deficiency, complementation group C" + }, + { + "baseId": "21012|292646|292670|297436|302791|313547|313556|313557|313576|313577|313581|313583|313584|313586|313588|313589|313593|313595|313596|313597|313604|313606|313615|313617|313619|319757|319758|319759|319760|319765|319773|319775|319776|319778|319789|319791|319799|319801|325930|325934|325935|325939|325940|325946|325957|325977|325978|325983|325988|325993|326885|326886|326890|326892|326893|326901|326902|326903|326919|326920|326923|326932|326947|326948|326956|326958|326962|353179|353180|353668", + "text": "Hyperekplexia" + }, + { + "baseId": "21012|31099|31100|31101|31102|31103|31104|31105|31106|31107|31108|31109|31110|31111|31112|31113|46891|46892|46893|46894|46896|46897|46898|46899|46901|46902|49426|166114|227283|296498|296505|296506|296507|296508|296512|296514|298404|298405|298406|298411|298412|298414|302510|302516|302517|302518|302524|302771|302779|302782|302783|302787|302789|302792|454765|454769|454773|454824|454825|454827|455328|455330|455624|455628|455632|480412|513277|520937|520942|520944|521175|521176|521181|521372|521413|521416|521426|521430|535737|559964|560221|560223|560225|560227|560229|560340|560342|560344|563001|563003|564942|564945|564948|564956|564966|564973|620781|633656|633657|633658|633659|633660|633661|633662|633663|633664|651228|651313|654380|691809|691810|709767|721338|721340|734980|764981|787318|798554|798555|830548|830549|830550|830551|830552|830553|830554|830555|830556|830557|830558|830559|830560|851270|893641|893642|893643|896065|896066|918937|923956|923957|923958|923959|932804|932805|932806|939997|940809|940810|944498|944499|944500|944501|944502|944503|944504|954097|954098|959760|960558", + "text": "Hyperekplexia 1" + }, + { + "baseId": "21013", + "text": "FACTOR VII-ACTIVATING PROTEASE MARBURG I POLYMORPHISM" + }, + { + "baseId": "21013|31459", + "text": "Venous thromboembolism, susceptibility to" + }, + { + "baseId": "21013", + "text": "THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO" + }, + { + "baseId": "21013|309516|309517|309521|309526|309527|309531|309532|309533|309537|309539|309542|309544|309548|309555|309572|314323|314324|314334|314335|314336|314337|314338|314342|314345|314349|314354|320281|320283|320285|320300|320309|320310|320314|320316|320326|320341|320351|320354|320357|320359|320360|320366|320367|320745|320753|320754|320755|320759|320762|320770|320782|320793|320794|320808|320828|320830|320831|620345|723772|723773|723774|865445|865446|865447|865448|865449|865450|865451|865452|865453|865454|865455|865456|865457|865458|865459|865460|865461|865462|865463|865464|865465|865466|865467|865468|865469|865470|865471|865472|865473|865474|865475|865476|865477|865478|865479|865480|868445|868446|868447|868448|868449", + "text": "Factor VII Marburg I Variant Thrombophilia" + }, + { + "baseId": "21014|21015|21016|21017|76940|143061|143062|143063|143064|143065|143066|143067|143069|143070|200259|200264|200267|200271|200273|200277|254851|273105|319895|319899|319904|319905|319909|319910|328423|328426|334877|334879|334881|334882|334883|334884|336683|336684|336721|336725|336748|336769|336775|336776|513339|527736|527765|612302|641944|677066|693381|693382|725502|753856|753857|769572|791345|861130|871370|871371|871372|871373|871374|871375|871376|871377|871378|871379|871380|871381|871382|872339|872340|872341|872342", + "text": "Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)" + }, + { + "baseId": "21018", + "text": "ABri amyloidosis" + }, + { + "baseId": "21019|964404", + "text": "ADan amyloidosis" + }, + { + "baseId": "21020|21020|39353|39354|39356|48063|48065|48065|53941|53943|53944|53945|53946|53947|53947|53948|53948|53949|53949|53950|53951|53951|53952|53953|53953|53956|53957|53958|53959|140194|140196|140196|140197|140198|166295|174606|174610|174612|174612|174613|174614|174615|174615|174616|174619|174620|174620|174883|174886|174887|174887|174888|174888|174889|174890|174893|174893|174894|174894|174896|174896|174897|174897|178610|178610|188821|189835|189836|189839|189841|189841|189842|189842|192373|192373|193540|198232|198233|198233|198236|198237|198238|221940|224381|224383|229736|229738|229739|229739|229741|229742|229744|236775|236776|240749|240750|240750|240751|240752|240753|258631|258632|258634|264448|267801|278736|309573|309573|309575|309576|314356|314357|314357|314361|314361|314365|320371|320373|320378|320381|320389|320389|320396|320396|320399|320399|320415|320416|320846|320847|320848|320849|320861|320862|359800|359829|359836|370643|371177|371184|371184|371190|371575|371576|371579|371583|397158|397162|397176|397397|397399|397400|397403|397406|397557|397564|397569|397630|397717|397725|397734|397739|397741|407817|407821|421776|421778|444560|459701|459894|459895|459898|460134|460138|460145|460151|460153|460617|495662|502751|502753|503135|503142|503287|503583|510148|510149|510150|510151|510154|510155|524982|524986|524987|524991|524993|525203|525204|525210|525319|525321|525323|525326|525411|525486|525490|525492|525499|525501|525506|525519|563588|563589|564497|564499|564504|564505|566103|566176|566178|566179|566181|566183|566184|566186|569508|569514|611727|638740|638741|638742|638743|638744|638745|638746|638747|638748|638749|638750|638751|638752|638753|638754|638755|638756|638757|652088|652124|652253|687590|687591|687592|687593|751987|767651|783543|783546|836651|836652|836653|836654|836654|836655|836656|836657|836658|836659|836660|836661|836662|836663|836664|836665|836666|836667|836668|836669|836670|836671|836672|836673|836674|836675|836676|836677|865481|865482|865483|865484|865485|865486|865487|865488|868450|925752|925753|925754|925755|925756|925757|925758|934965|934966|934967|934968|934969|934970|934971|934972|934973|934974|934975|940951|946826|946827|946828|946829|946830|946831|946832|946833|946834|946835|955991|955992|955993|955994|955995|955996|955997|955998|955999|956000|956001|956002|967230", + "text": "Myofibrillar myopathy, BAG3-related" + }, + { + "baseId": "21020|39352|39353|39353|39354|39354|39355|39356|39356|48063|48063|48064|48065|48065|53941|53943|53944|53945|53946|53947|53947|53948|53948|53949|53950|53951|53951|53952|53953|53953|53956|53957|53958|53959|140194|140196|140196|140197|140198|174606|174610|174612|174612|174613|174614|174615|174615|174616|174619|174620|174620|174883|174886|174887|174888|174888|174889|174890|174893|174894|174894|174896|174896|174897|174897|178610|178610|188821|189835|189836|189839|189841|189841|189842|189842|192373|192373|193540|198232|198233|198233|198236|198237|198238|221940|224381|224383|229736|229738|229739|229739|229741|229742|229744|236775|236776|240749|240750|240750|240751|240752|240753|258631|258632|258634|264448|267801|309573|309573|309575|309576|314356|314357|314357|314361|314361|314365|320371|320373|320378|320381|320389|320389|320396|320396|320399|320399|320415|320416|320846|320847|320848|320849|320861|320862|359800|359829|359836|370643|371177|371184|371184|371190|371575|371576|371579|371583|397158|397162|397176|397178|397397|397399|397400|397403|397406|397557|397564|397567|397569|397630|397717|397725|397734|397739|397741|407817|407821|421776|421778|424965|444560|459701|459894|459895|459898|460134|460138|460145|460151|460153|460617|495662|502751|502753|503135|503142|503287|503583|510148|510149|510150|510151|510154|510155|524982|524986|524987|524991|524993|525203|525204|525210|525319|525321|525323|525326|525411|525486|525490|525492|525499|525501|525506|525519|538626|563588|563589|564497|564499|564504|564505|566103|566176|566178|566179|566181|566183|566184|566186|569508|569514|611727|625807|638740|638741|638742|638743|638744|638745|638746|638747|638748|638749|638750|638751|638752|638753|638754|638755|638756|638757|652088|652124|652253|687590|687591|687592|687593|751987|767651|783543|783546|800401|836651|836652|836653|836654|836654|836655|836656|836657|836658|836659|836660|836661|836662|836663|836664|836665|836666|836667|836668|836669|836670|836671|836672|836673|836674|836675|836676|836677|865481|865482|865483|865484|865485|865486|865487|865488|868450|925752|925753|925754|925755|925756|925757|925758|934965|934966|934967|934968|934969|934970|934971|934972|934973|934974|934975|940951|946826|946827|946828|946829|946830|946831|946832|946833|946834|946835|955991|955992|955993|955994|955995|955996|955997|955998|955999|956000|956001|956002", + "text": "Dilated cardiomyopathy 1HH" + }, + { + "baseId": "21021|21022|21023|21024|21025|21026|21027|21028|21029|21030|237033|255305|322978|322979|322988|322989|322993|322995|322996|332529|332530|332531|332533|332538|332539|332547|332549|332557|332562|332568|332575|332576|332580|332595|332597|339482|339485|339493|339499|339506|339509|339514|339515|340919|340922|340924|340926|340927|340931|340932|340935|340936|340943|404822|409311|429705|429706|445391|464784|464999|528934|528939|529048|529049|529382|567204|567206|569023|569534|569535|573417|643437|643438|643439|643440|643441|643442|652397|652680|652686|754546|784968|842554|842555|842556|842557|842558|842559|873876|873877|873878|873879|873880|873881|873882|873883|873884|873885|873886|873887|873888|873889|873890|873891|873892|873893|873894|873895|873896|873897|873898|873899|873900|873901|873902|873903|873904|873905|873906|873907|873908|873909|873910|873911|873912|873913|873914|876544|876545|927382|927383|927384|927385|936997|936998|941093|948949|957459|957460|963174", + "text": "Griscelli syndrome type 2" + }, + { + "baseId": "21031|21032|21033|21034|21035|21036|21037|21038|21039|46956|46958|46959|46960|46962|46963|142828|142829|142830|200257|319824|319829|319833|319837|319839|319841|319848|319850|319854|319857|319858|319859|319871|319872|319876|328351|328357|328359|328371|328373|328382|328383|328385|328386|334805|334809|334810|334814|334823|334824|334829|334831|334833|334838|334846|336535|336540|336546|336563|336565|336567|336568|336583|336589|336595|336610|336612|336614|336617|336620|336621|336629|336635|336651|372834|373857|375688|409028|426045|504803|538434|568548|572172|610519|641941|641942|641943|693379|693380|713928|753845|753846|776219|784603|840891|840892|840893|852540|871315|871316|871317|871318|871319|871320|871321|871322|871323|871324|871325|871326|871327|871328|871329|871330|871331|871332|871333|871334|871335|871336|871337|871338|871339|871340|871341|871342|871343|871344|871345|871346|871347|871348|871349|871350|871351|926918|926919|926920|936446|957105|957106|957107|961871|979378|979379|979380|979381|979382|979383", + "text": "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome" + }, + { + "baseId": "21041|21042|21043|21044|21045|21046|34360|34369|97542|190535|191566|200164|200164|227314|247322|252988|252989|274313|303680|303681|303690|303693|303697|303698|303699|303706|303715|307111|307112|307115|307116|307119|307122|307124|307127|312042|312049|312060|312061|312066|312067|312069|312077|312078|312080|312094|312111|312113|312132|312144|404776|444192|493370|578465|586473|587153|588213|588761|620281|687143|692336|766492|898557|898558|898559|898560|898561|898562|898563|898564|898565|898566|898567|898568|898569|900421|900422|900423|900424", + "text": "Citrullinemia type II" + }, + { + "baseId": "21041|21042|21043|21045|34360|34361|34362|34363|34364|34365|34366|34367|34368|34369|97542|200164|227314|247321|247322|247323|247324|247325|247326|404776|578465|581759|581761|801657|801658|801659|801660", + "text": "Neonatal intrahepatic cholestasis caused by citrin deficiency" + }, + { + "baseId": "21041|21042|21043|21044|21045|34360|34364|34365|34367|34369|190535|191566|200164|227314|252990|271238|274313|274349|303698|303705|307115|307119|312065|312066|312094|312111|312113|312131|312132|312144|359822|369321|369322|370035|444192|458113|491041|492959|493326|493362|562318|567289|584576|585995|587153|588036|636492|636493|636494|636495|687143|692336|736363|750859|766492|766493|775202|775388|775429|790765|819926|819927|819928|833998|833999|834000|834001|834002|834003|851169|852395|852404|924962|924963|934048|934049|934050|934051|940886|945806|945807|955265|955266", + "text": "Citrin deficiency" + }, + { + "baseId": "21041|21044|34360|34369|190535|200164|227314|252988|274313|274349|303698|307115|312066|312094|567289|587153|687143|736363|766489|766492|978407|978408", + "text": "Late-onset citrullinemia" + }, + { + "baseId": "21047|21048|21049|21050|23797|28986|32735|33371|33372|138774|173810|173950|193532|229170|229171|229172|229173|231108|239357|239358|239359|239360|239361|239362|239363|239365|239366|239367|251487|251488|293425|293427|293428|293429|293433|293434|294824|294826|294836|294838|294839|294840|294843|294845|294846|294847|294855|294856|298453|298454|298455|298463|298466|298467|298468|298514|298516|298526|298527|298528|298529|298530|298538|298545|298546|393909|393911|393914|393919|393921|393925|393932|393933|394151|394152|394161|394164|394338|394351|394357|394360|394361|394366|421488|453167|453172|453174|453175|453177|453179|453183|453186|453196|453433|453438|453440|453451|453453|453455|453540|453541|453544|453546|453548|453549|453551|453553|453915|453916|453918|453919|453920|453924|453925|453927|453929|453930|473502|473506|473766|473769|473769|496319|496812|519909|519914|519926|519932|519937|519944|519952|519953|520167|520169|520172|520177|520191|520194|520196|520197|520198|520200|520204|520206|520208|552081|559683|559685|559687|559689|559691|559693|559840|559844|559846|559848|562017|563711|563716|563717|632205|632206|632207|632208|632209|632211|632212|632213|632214|632216|632217|632218|632219|632220|632221|632222|632223|632225|632226|632227|632228|632229|683633|686517|686518|686519|686522|686523|691563|691565|691566|691567|691568|709366|720981|748945|764465|774954|781958|790473|791190|807711|807714|829152|829153|829154|829155|829156|829157|829158|829159|829160|829161|829162|829163|829164|829165|829166|829167|829168|829169|829170|829171|829172|829173|829174|829175|829176|851504|857368|857369|857370|890665|890666|890667|890668|890669|890670|890671|890672|890673|890674|890675|890676|890677|890678|918895|973021", + "text": "Congenital central hypoventilation" + }, + { + "baseId": "21047|33373|138773|229171|393924|394157|453185|453435|473580|473763|520153|520182|520184|520191|559842|562022|563704|563707|632210|632215|632224|807706|807716|807720|807721|807725|807737|857370|923515|923516|923517|923518|923519|932339|932340|932341|932342|932343|932344|932345|932346|932347|932348|932349|932350|932351|939968|943999|944000|944001|944002|944003|944004|944005|944006|944007|944008|944009|944010|944011|944012|953776|953777|953778|953779|953780", + "text": "Haddad syndrome" + }, + { + "baseId": "21047", + "text": "Central hypoventilation syndrome, late-onset" + }, + { + "baseId": "21050|21053|173810|173950|229171|229172|229173|239357|239362|239363|239365|239366|293425|293427|293428|293433|293434|294824|294826|294836|294838|294839|294840|294843|294845|294846|294847|294856|298453|298454|298455|298463|298466|298468|298514|298516|298526|298527|298529|298530|298538|298545|298546|473766|473769|520191|890665|890666|890667|890668|890669|890670|890671|890672|890673|890674|890675|890676|890677|890678", + "text": "Neuroblastoma 2" + }, + { + "baseId": "21051|21052", + "text": "Neuroblastoma with Hirschsprung disease" + }, + { + "baseId": "21054|211614|211619|211619|211626|244178|247683|247684|247685|247686|247688|247689|361204|590603|590604|610426|610426|677437|791229|791230|791231|791232|919426|963114|964383|973843", + "text": "Encephalopathy due to defective mitochondrial and peroxisomal fission 1" + }, + { + "baseId": "21055|21056|21057|142196|660883|788777|971340", + "text": "Mitochondrial complex 1 deficiency, nuclear type 9" + }, + { + "baseId": "21058|21059|142193|626077", + "text": "Mitochondrial complex 1 deficiency, nuclear type 8" + }, + { + "baseId": 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+ "text": "Sialuria" + }, + { + "baseId": 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+ "text": "GNE myopathy" + }, + { + "baseId": "21077", + "text": "Caudal duplication anomaly" + }, + { + "baseId": "21078|141341|141342|167429|167430|167431|167432|167433|322550|322553|322554|322556|322560|331962|331966|331968|331975|331976|331982|331996|332002|332007|338948|338950|338952|338953|338960|338967|338969|338975|338977|340557|340558|340559|340562|340563|340565|340567|340569|340571|620514|703218|873534|873535|873536|873537|873538|873539|873540|873541|873542|873543|873544|873545|873546|873547|873548|873549|873550|873551|876512|876513|876514", + "text": "Peeling skin syndrome 2" + }, + { + "baseId": 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+ "text": "Spondyloepiphyseal dysplasia with congenital joint dislocations" + }, + { + "baseId": "21091", + "text": "Long QT syndrome 6, acquired, susceptibility to" + }, + { + "baseId": "21091|21092|21093|21094|21094|78507|78508|78510|78511|78515|78517|78519|188750|188753|188755|188967|336609|336611|346324|346325|350564|351605|351606|378479|470616|471142|533812|551797|573766|575144|648944|680056|689239|689241|694624|848733|886690|886691|886692|886693|886694|939091|951214|951215", + "text": "Long QT syndrome 6" + }, + { + "baseId": "21091|21093|21094|21094|188750|188753|336609|336611|346324|346325|350564|351605|351606|886690|886691|886692|886693|886694", + "text": "Atrial fibrillation, familial, 4" + }, + { + "baseId": 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digenic" + }, + { + "baseId": "21096|21097|21098|21099|21100|29068|49653|49654|49655|204476|204477|213146|213147|213148|222442|222443|222444|222445|242188|244939|324039|324052|324063|324064|324076|324077|333657|333661|333665|333667|333670|333671|333676|333679|333681|333683|333687|333693|333695|333702|333704|340438|340441|340443|340444|340450|340452|340460|340464|340466|340468|341817|341818|341834|341839|341846|341848|374598|400519|401091|401097|445487|465485|465606|465607|465712|529277|529320|529599|529600|537259|567581|567589|567593|569767|569856|569859|569860|573687|573688|625311|643811|643812|643813|643814|643815|643816|643817|643818|643819|643820|643821|684571|688521|688522|785111|820761|842979|842980|842981|842982|874603|874604|874605|874606|874607|874608|874609|874610|874611|874612|874613|874614|874615|874616|874617|874618|927530|927531|927532|940340|949134|957594|957595", + "text": "Charcot-Marie-Tooth disease, type 1C" + }, + { + "baseId": "21101|21102|21103|21104|21105|21106|21108|21115|21116|792772", + "text": "Rothmund-Thomson syndrome type 2" + }, + { + "baseId": "21102|21102|21105|138872|138883|138909|207535|227319|240254|240305|240306|240322|253085|273145|395934|395939|396036|396053|396068|396151|396205|396253|396290|396314|396345|396668|396734|396762|457586|458168|458182|458213|458223|458324|458533|523739|523748|523840|550605|550606|552121|562098|562135|562527|564840|654505", + "text": "Rothmund-Thomson syndrome" + }, + { + "baseId": 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7|834358|834359|834360|834361|834362|834363|834364|834365|834366|834367|834368|834369|834370|834371|834372|834373|834374|834375|834376|834377|834378|834379|834380|834381|834382|834383|834384|834385|834386|834387|834388|834389|834390|834391|834392|834393|834394|834395|834396|834397|834398|834399|834400|834401|834402|834403|834404|834405|834406|834407|834408|834409|834410|834411|834412|834413|834414|834415|834416|834417|834418|834419|834420|834421|834422|834423|834424|834425|834426|834427|834428|834429|834430|834431|834432|834433|834434|834435|834436|834437|834438|834439|834440|834441|834442|834443|834444|834445|834446|834447|834448|834449|834450|834451|834452|834453|834454|834455|834456|834457|834458|834459|834460|834461|834462|834463|834464|834465|834466|834467|834468|834469|834470|834471|834472|834473|834474|834475|834476|834477|834478|834479|834480|834481|834482|834483|834484|834485|834486|834487|834488|834489|834490|834491|834492|834493|834494|834495|834496|834497|834498|834499|834500|834501|834502|834503|834504|834505|834506|834507|834508|834509|834510|834511|834512|834513|834514|834515|834516|834517|834518|834519|834520|851187|851189|851191|851674|851676|851678|851680|852120|852122|852424|852425|852427|852431|852435|925079|925080|925081|925082|925083|925084|925085|925086|925087|925088|925089|925090|925091|925092|925093|925094|925095|925096|925097|925098|925099|925100|925101|925102|925103|925104|925105|925106|925107|925108|925109|925110|925111|925112|925113|925114|925115|925116|925117|925118|925119|925120|925121|925122|925123|925124|925125|925126|925127|925128|925129|925130|925131|925132|925133|925134|934166|934167|934168|934169|934170|934171|934172|934173|934174|934175|934176|934177|934178|934179|934180|934181|934182|934183|934184|934185|934186|934187|934188|934189|934190|934191|934192|934193|934194|934195|934196|934197|934198|934199|934200|934201|934202|934203|934204|934205|934206|934207|934208|934209|934210|934211|934212|934213|934214|934215|934216|934217|934218|934219|934220|934221|934222|934223|934224|934225|934226|934227|940093|940094|940095|940892|940893|940894|940895|940896|945929|945930|945931|945932|945933|945934|945935|945936|945937|945938|945939|945940|945941|945942|945943|945944|945945|945946|945947|945948|945949|945950|945951|945952|945953|945954|945955|945956|945957|945958|945959|945960|945961|945962|945963|945964|945965|945966|945967|945968|945969|945970|945971|945972|945973|945974|945975|945976|945977|945978|945979|945980|945981|945982|945983|945984|945985|945986|945987|945988|945989|945990|945991|945992|945993|945994|955345|955346|955347|955348|955349|955350|955351|955352|955353|955354|955355|955356|955357|955358|955359|955360|955361|955362|955363|955364|955365|955366|955367|955368|955369|955370|955371|955372|955373|955374|955375|959881|959882|959883|960646|960647|960648", + "text": "Baller-Gerold syndrome" + }, + { + "baseId": "21102|21103|21105|21109|21110|21111|71037|71038|71040|71041|71042|71043|71044|71045|71046|71047|71048|71049|138872|138883|138909|138913|207535|227319|240251|240254|240305|240306|240322|273145|395934|395939|396036|396053|396068|396151|396205|396253|396290|396314|396345|396668|396734|396762|457586|458168|458182|458213|458223|458533|523739|523748|523840|562098|562135|562527|564840|792772", + "text": "Rapadilino syndrome" + }, + { + "baseId": "21105|151724|235216|240867|612018", + "text": "B lymphoblastic leukemia lymphoma with t(12" + }, + { + "baseId": "21105|151724|235216|240867|612018", + "text": "21)(p13" + }, + { + "baseId": "21105|151724|235216|240867|612018", + "text": "q22)" + }, + { + "baseId": "21105|151724|235216|240867|612018", + "text": " TEL-AML1 (ETV6-RUNX1)" + }, + { + "baseId": "21105", + "text": "High grade surface osteosarcoma" + }, + { + "baseId": "21117|282312|284954|284978|294991|294993|294994|294999|295001|295003|295005|296735|296738|296739|296761|296766|296767|296780|300450|300451|300469|300471|300472|300482|300483|300484|300495|300496|300497|300501|300509|300518|300525|300540|300542|300543|300573|300574|709594|892659|892660|892661|892662|892663|892664|892665|892666|892667|892668|892669|892670|892671|892672|892673|892674|892675|892676|892677|892678|892679|892680|892681|892682|892683|892684|892685|892686|892687|892688|892689|896015|896016|896017|896018|896019", + "text": "Parkinson Disease, Dominant/Recessive" + }, + { + "baseId": "21118|187180|272347", + "text": "Amelogenesis imperfecta, hypomaturation type, IIA1" + }, + { + "baseId": "21119|21120|76004", + "text": "Hyalinosis, Segmental Glomerular" + }, + { + "baseId": "21119|21119|21119|21120|76004|76004|76004|94312|94313|187048|224284|224551|254892|300480|300481|300486|300490|303316|303334|303337|303339|303341|303360|303367|303368|307806|307807|307827|307844|307849|307850|307851|307878|307879|307895|308000|308002|308025|308028|308030|308031|308033|308040|312031|312041|317704|323715|324424|335402|353794|514037|590302|801121|801163", + "text": "Focal segmental glomerulosclerosis" + }, + { + "baseId": "21119|76004", + "text": "Sickled erythrocytes" + }, + { + "baseId": "21119|76004|491214|918506|918507|918508|918510|918511|918514", + "text": "Glomerulonephritis (disease)" + }, + { + "baseId": "21120|622786|622787", + "text": "Focal segmental glomerulosclerosis 4, susceptibility to" + }, + { + "baseId": "21121|21122|21123|48137|48138|48139|48140|48141|48142|48143|48144|48145|48146|209356|256545|260198|260199|330521|330522|330523|330524|330530|330531|330535|330538|330547|340749|340751|340753|340755|340759|340763|340770|340771|340772|340780|340782|340784|340788|346360|346361|346363|346365|346366|346373|346376|346380|346383|346384|346388|346395|347725|347730|347731|347737|361028|376789|390231|410306|414711|414712|414714|431019|431020|612323|612324|620613|620892|622245|622246|622247|622248|622249|622250|622251|622252|622253|622254|622255|622256|622265|756261|756263|788917|791844|797623|860450|878790|878791|878792|878793|878794|878795|878796|878797|878798|878799|878800|878801|878802|878803|878804|880618|880619|880620|880621|880622|880623|919782|971098|971099|980961|983363|983364|983365|983366|983367|983368|983369|983370|983371|983372|983373|983374|983375|983376|983377|983378|983379|983380|983381|983382|983383|983384|983385|983386|983387|983388|983389|983390|983391|983392|983393|983394|983395|983396|983397|983398|983399|983400|983401|983402|983403|983404|983405|983406|983407|983408|983409|983410|983411|983412|983413|983414|983415|983416|983417|983418|983419|983420|983421|983422|983423|983424|983425|983426|983427|983428|983429|983430|983431|983432|983433|983434|983435|983436|983437|983438|983439|983440|983441|983442|983443|983444|983445|983446|983447|983448|983449|983450|983451|983452|983453", + "text": "Autosomal recessive congenital ichthyosis 2" + }, + { + "baseId": "21124|21125|21126|88393|141272|141273|141274|141275|141276|141277|141278|141279|141280|141281|141282|141283|141284|141285|141286|141287|191902|243831|243832|243833|243834|243835|244529|244530|244531|244532|244533|244534|244535|244536|253259|253260|253261|253262|253263|253264|253265|269477|306456|306458|306459|306461|306462|306463|306467|306476|306478|310576|310577|310578|310586|310589|310606|310611|310614|310622|310624|310631|310640|310642|310644|310645|310651|310664|315955|315968|315977|315983|315991|316011|316012|316017|316018|316019|316022|316025|316029|316030|316245|316268|316269|316271|316278|316286|316288|316297|316298|316299|316308|316309|316312|316313|316314|316319|316320|316321|316330|316342|316344|353849|357770|357771|357772|357773|357774|359749|369658|370160|370169|370442|370453|372073|372077|397013|407512|433642|458177|458185|458188|458189|458192|458682|458697|458703|458705|458708|458794|458795|458797|459186|459188|459191|459195|459201|487352|489170|490119|490954|492758|495243|502091|502095|502097|513585|523860|523861|523863|523864|523868|523884|523885|523887|524095|524142|524146|524160|524161|524162|524166|524167|524169|524432|524436|524470|524472|524475|524484|524485|524487|544613|544615|544616|544630|544633|544635|544636|544638|544639|544641|544650|544652|544655|544666|544668|544670|544672|544941|544942|544945|544962|544963|544965|544967|544968|544970|544972|544975|544986|544991|545056|545058|545061|545063|545069|545071|545073|545077|545079|545080|545091|545098|545100|545103|545104|545106|545171|545173|545175|545178|545180|545182|545204|562651|562653|562659|562664|562668|562670|562676|562678|563287|563288|563291|563292|563294|563324|563328|563332|563346|563351|565370|565376|565377|565385|565391|565397|568300|568348|568350|568351|568360|568374|568378|568379|637573|637574|637575|637576|637577|637578|637579|637580|637581|637582|637584|637586|637588|637589|637590|637592|637593|637595|637596|637599|651806|651866|651868|651890|655880|684032|684033|684034|684035|684036|685247|687333|687336|687338|687342|687344|687345|689929|692550|692552|692558|695406|711686|766978|766982|766987|775448|783215|783216|799560|805089|816430|835317|835320|835321|835324|835329|835333|835334|835340|835341|835343|835345|835347|835349|835351|851217|851219|900802|900803|900804|900805|900806|900807|900808|900809|900810|900811|900812|900813|900814|900815|900816|900817|900818|900819|900820|900821|900822|900823|900824|900825|900826|900827|900828|900829|900830|900831|900832|900833|900834|900835|900836|900837|900838|900839|903289|903290|903291|903292|903293|903294|940919|955623|955625|955628|955629|955634|955635|955640|960668|978509|978510|978511|978512|978513|978514|978516|978517|978518|978519|978520|978521|978522|978523|978524|978525|978526|978527|978528|978529|978530|978531|978532|978533|978534|978535|978536|978537|978538|978539|978540|978541|978542|978543|978544|978545|978546|978547|978548|978549|978550|978551|978552|978553|978554|978555|978556|978557|978558|978559|978560", + "text": "Familial dysautonomia" + }, + { + "baseId": "21127|21128|614126", + "text": "Neonatal ichthyosis-sclerosing cholangitis syndrome" + }, + { + "baseId": "21129|21130|21131|75587", + "text": "Hypoparathyroidism, familial isolated, 2" + }, + { + "baseId": "21132|21133|21134|21135|21137|21138|39337|39338|76401|76408|76409|76413|76414|190475|250739|268297|490057|518243|536075|536076|558472|560641|576694|630033|686213|695146|733495|826512|977193", + "text": "Holoprosencephaly 2" + }, + { + "baseId": "21139", + "text": "Bile acid synthesis defect, congenital, 3" + }, + { + "baseId": "21139|21140|21141|21142|21143|21144|21145|21146|40115|125786|125787|190457|221766|221767|227324|273222|305741|305751|305753|305756|305759|305760|309750|309761|309762|309764|314990|314991|315005|315008|315110|315111|315121|315131|431012|431013|492205|493946|513541|513599|578471|789123|789131|798602|899938|899939|899940|899941|899942|899943|899944|899945|899947|899948|899949", + "text": "Hereditary spastic paraplegia 5A" + }, + { + "baseId": "21147|21148|21149|21150|21151|21152|21153|21154|21155|215317|297808|297813|299985|299988|299991|299992|304190|304201|304202|304203|304210|304214|304215|304523|304529|486372|578434|578435|795708|802158|858725|894476|894478|894479|894480|894481|894482|894483|894484|894485|894486|894487|894488|894489|894490|894491|894492|894493|894494|894495|894496|894497|894498|894499|894500|894501|894502|894503|894504|894505|894506|894507|894508|894509|894510|894511|894512|894513|894514|918971", + "text": "Molybdenum cofactor deficiency, complementation group B" + }, + { + "baseId": "21149|297736|297741|297765|297766|297767|297776|297779|297781|297798|297807|297809|299941|299950|299962|299970|299972|299986|300053|300054|300057|300059|300071|300076|302731|302743|302752|302760|302776|304133|304169|304176|304191|304201|304202|304203|304442|304451|304490|304493|304526|307121|307397|307412|307413|307425", + "text": "Combined molybdoflavoprotein enzyme deficiency" + }, + { + "baseId": "21152|21156|21157|21158|21159|21160|205013|205014|300050|300051|300056|300060|300061|300078|300086|300087|300088|300089|300094|300101|300107|300110|302722|302724|302725|302747|302748|302753|302754|302761|302764|302766|302773|302775|302777|302784|302786|302788|302799|302811|302818|302819|302837|302841|307063|307065|307068|307070|307075|307076|307079|307140|307143|307144|307154|307156|307159|307161|307162|307164|307165|307172|307173|307181|307218|307219|307220|307224|307225|307403|307404|307423|307426|307436|307437|307439|307450|307454|361592|464000|464445|521668|522060|522377|560732|581754|620787|634928|634929|634930|679750|679826|790626|795856|831935|831936|831937|895922|895923|895924|895925|895926|895927|895928|895929|895930|895931|895932|895933|895934|895935|895936|895937|895938|895939|895940|895941|895942|895943|895944|895945|895946|895947|895948|895949|895950|895951|895952|895953|895954|895955|895956|895957|895958|895959|895960|895961|895962|895963|895964|896240|896241|896242|933325|945022|954450|961773", + "text": "Molybdenum cofactor deficiency, complementation group A" + }, + { + "baseId": "21161|21162|21163|21164|21165|94535|185740|185741|207984|318055|318056|325969|325970|332221|332224|333699|333700|333713|333717|333734|462342|641282|681809|870190|870191|870192|870193|870194|872271|872272|872273|917740|936194|936195|941035", + "text": "Diamond-Blackfan anemia 10" + }, + { + "baseId": "21166|21167|21788|22607|22659|22663|24047|24048|24049|24050|24073|39054|39058|39059|39164|39166|48117|53089|53503|176733|223686|223689|232102|264298|354279|410730|457788|481486|510873|513664|513957|513958|532147|532159|533475|551706|578648|578649|581235|581236|581838|581843|590018|590155|590156|590157|613938|613973|614485|615875|834064|919129|919130|919902|919903|919904|919905|961635|965931|970535|980490|983678|983682", + "text": "Tetralogy of Fallot" + }, + { + "baseId": "21166|21167|21169|48117|166432|166433|240219|240220|240221|252999|253002|253005|253006|395860|396119|396122|396256|396543|396544|457735|457742|457744|457765|457768|522965|523199|523204|523206|523429|523548|523568|523569|523580|551706|561886|567325|636533|636534|636535|636536|636537|636538|636539|683961|683962|683964|683965|687158|834032|834033|924979|934062|945821|945822|955273", + "text": "46,XY sex reversal 9" + }, + { + "baseId": "21167|21169|21787|48116|48118|394846|513907", + "text": "Double outlet right ventricle" + }, + { + "baseId": "21167|21168|21169|21170|621896|621897|970870|975859|975860", + "text": "Diaphragmatic hernia 3" + }, + { + "baseId": "21167|21169|27833|27835|27836|27837|27838|27839|27840|27841|27842|27843|27844|27845|27846|39055|39058|48117|142240|213584|213585|240219|252999|253284|260482|359757|359757|396274|428907|428910|458740|502861|523825|562690|562691|637644|637645|637646|653876|687353|692569|788832|794210|794211|794212|794213|794214|794215|820046|835434|835435|934528|940126|946339|946340", + "text": "46,XY sex reversal, type 3" + }, + { + "baseId": "21171|293065|406132", + "text": "Spastic paraplegia 42, autosomal dominant" + }, + { + "baseId": "21172|21173|21174|21175|21176|21177|21179|21181|21182|34675|34676|34677|34678|34679|34680|34681|34682|34683|34684|34685|34686|34687|34688|34689|34690|34691|34692|34693|34695|34696|34697|34698|34699|34700|34701|34703|34704|34705|34706|34707|34708|34709|34710|34711|34712|34714|34715|34716|48674|57327|57329|57330|57331|57332|57333|57335|57338|57340|57342|57344|57345|57346|57350|57358|57359|57362|57363|57364|57365|57367|57369|57370|57371|57372|57373|57376|57383|57387|57389|57393|57394|57397|57398|57399|57400|57403|57404|57406|57410|57411|57412|57413|57414|57415|57417|57420|57421|57422|57423|57425|57426|57433|57437|57438|57439|57442|76681|76682|76683|76684|76685|76686|76687|76688|76689|76690|76691|76692|76693|76694|76695|76696|76697|76698|76699|76700|76701|76702|76704|76705|76706|76707|76708|76709|76710|76711|76712|76713|76714|76715|76716|76717|76718|76719|76720|76721|76722|76723|76724|137046|137047|173497|173500|173501|173502|173507|173513|173514|173515|173518|173524|173638|173641|173648|173649|173657|199783|204282|208369|228939|228946|228948|228953|228956|250703|250708|271841|273157|285699|285703|285714|285716|285720|285722|285723|285725|285736|285738|285746|285748|286394|286396|286397|286398|286400|286405|286406|286407|286417|286418|286419|286424|286425|286449|286453|286456|286457|286461|288721|288726|288727|288728|288734|288735|288737|288744|288754|288756|288760|289142|289143|289146|289148|289151|289153|289154|289158|289166|289168|289169|389219|389220|404759|439895|439896|439897|439898|496272|496274|496757|539468|553251|553252|553253|615786|615787|619934|620079|620080|620081|620745|620746|622323|622684|622685|622686|622687|622699|654264|795211|799295|884491|884492|884493|884494|884495|884496|884497|884498|884499|884500|884501|884502|884503|884504|884505|884506|884507|884508|884509|884510|884511|884512|884513|884514|884515|884516|884517|884518|884519|884520|884521|884522|884523|884524|884525|884526|884527|884528|884529|884530|884531|884532|884533|884534|884535|887339|887340|887341|887342|887343|904241|966050|969147|971293", + "text": "Deafness, autosomal recessive 9" + }, + { + "baseId": "21175|21178|21179|21180|21181|21182", + "text": "Auditory neuropathy, autosomal recessive, 1" + }, + { + "baseId": "21185|23156|23157|23258|23259|31035|31036|31037", + "text": "Basal cell carcinoma, somatic" + }, + { + "baseId": "21187|247548|282900|283688|285208|481465|537369|576093|614233|792724|801574|905863|920164|970723", + "text": "Hypomyelination, global cerebral" + }, + { + "baseId": "21189|286931|286933|289232|289241|289242|289244|289245|289246|289604|289605|289620|289621|289622|359098|451004|451007|518219|518264|558458|560631|626128|679895|685132|686207|686209|826465|884812|931402|942916|942917|964120", + "text": "Diamond-Blackfan anemia 8" + }, + { + "baseId": "21190|21191|21192|21193|21194|21195|237728|253971|253973|253974|253975|253976|253977|253978|253979|253981|260794|260795|312027|312032|312038|312039|312043|312044|317683|317684|317699|317703|317707|317708|317711|317712|317713|323645|323647|323649|323650|323651|323656|323658|323671|323674|323686|323688|323689|323697|323698|323714|323723|323727|324394|324397|324405|324418|324425|324426|324434|324436|324438|324439|324440|324441|324443|324444|324446|324448|513087|513088|590300|620375|620828|623305|623306|752382|793376|818286|818287|818288|866769|866770|866771|866772|866773|866774|866775|866776|866777|866778|866779|866780|866781|866782|866783|866784|866785|866786|866787|866788|866789|866790|866791|866792|866793|866794|866795|868578|961006|962729|962730|964350|970926", + "text": "Focal segmental glomerulosclerosis 2" + }, + { + "baseId": "21196|21197|21198|21199|21200|21201|391635|427940|516815|551524|551525|557725|622864|800350|800686", + "text": "Bardet-Biedl syndrome 5" + }, + { + "baseId": "21202|21203|21204|21205|21206|21206|21207|21208|21208|21210|21212|21213|27338|140205|140206|140208|141471|141472|141473|141474|210767|210768|210770|210771|210777|266146|274559|284709|285379|285380|285385|287612|287613|287614|287849|287850|300864|300951|327316|327321|327328|327356|327357|327360|337177|337178|337181|337185|337187|343381|343392|343401|344971|344972|344976|345010|345013|345016|361172|366412|366991|541853|613536|654243|883749|883750", + "text": "Mitochondrial complex III deficiency, nuclear type 1" + }, + { + "baseId": "21203|21206|21206|21208|21208|21210|21213|71050|71051|71052|71053|140205|140206|140208|210767|210768|210769|210770|210777|210779|259729|274559|284709|285379|285380|285385|287612|287613|287614|287849|287850|357236|357237|357238|357239|357240|357241|357242|357243|357244|357245|366412|366991|541728|541730|541731|541744|541746|541759|541798|541800|541803|541805|541815|541817|541823|541827|541853|541857|541888|541892|541894|541896|541899|541900|541905|541910|654241|654243|658809|747291|762924|762925|762927|781173|790196|883749|883750", + "text": "GRACILE syndrome" + }, + { + "baseId": "21206|21208|21209|132021|210779", + "text": "Pili torti-deafness syndrome" + }, + { + "baseId": "21208|71051|210777|210779|620061", + "text": "BCS1L-Related Disorders" + }, + { + "baseId": "21210|21211", + "text": "Bjornstad syndrome with mild mitochondrial complex III deficiency" + }, + { + "baseId": "21214|48742|140717|140719|264384|487425|513311", + "text": "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2" + }, + { + "baseId": "21216|21217|125785", + "text": "Mitochondrial complex 4 deficiency, nuclear type 4" + }, + { + "baseId": "21218|21219|21221|21222|21223|106510|106511|238349|238350|238353|265986|281306|281307|281320|281324|281325|281966|281967|281969|283216|283217|283219|283234|283237|283239|283370|283372|283373|283377|391435|513510|626114|628282|679736|818405|864833|864834|864835|864836|864837|865212|865213|865214|865215|918522|969293|974937|975944", + "text": "Diamond-Blackfan anemia 6" + }, + { + "baseId": "21224|21225|21226|227297|239901|299909|299910|299911|299915|302548|302549|302550|302556|306937|306938|306946|307216|895848|895849|895850|895851|895852", + "text": "Diamond-Blackfan anemia 9" + }, + { + "baseId": "21227|21228|21229|185755|212086|212087|212088|221093|221094|244151|268997|273693|280370|280374|280375|280382|280383|280384|280396|280735|280738|280739|280744|280748|280749|280750|282094|282100|282105|282106|282125|282128|282156|282157|282158|282161|282189|282190|282191|282195|282197|282198|282208|282217|282218|282224|282226|282240|282241|282243|282244|282257|282266|365222|365229|390748|391317|442823|447785|447798|447801|447809|447974|447983|448083|448086|448106|448111|448115|515790|515796|515797|515811|515815|515819|515828|515832|515846|515904|556486|557025|557027|557029|557254|557295|557297|557299|557301|558477|558479|558481|609425|627755|627756|627757|627758|627759|627760|627761|627762|627763|627764|627765|627766|650745|685704|685705|685706|685707|685709|690583|695046|780672|818963|818964|823881|823882|823883|823884|823885|823886|823887|823888|823889|823890|823891|823892|823893|864298|864299|864300|864301|864302|864303|864304|864305|864306|864307|864308|864309|921989|921990|921991|921992|921993|921994|930466|930467|930468|930469|930470|930471|941915|941916|941917|952389|952390|952391|960429|970686", + "text": "Charcot-Marie-Tooth disease, dominant intermediate C" + }, + { + "baseId": "21232|24368|50242|137477|223027|223028|223029|223030|223031|223032|223033|223034|223035|223036|223037|223038|223039|223040|223041|223042|223043|223044|223045|223046|223047|223048|223049|223050|223051|223052|223053|223054|223055|223056|223057|223058|223059|223060|223061|223062|223063|223064|223065|223066|223067|223068|223069|223070|223071|223072|223073|223074|223075|223076|223077|223078|223079|223080|223081|223082|223083|223084|223085|223086|223087|223088|223089|223090|223091|223092|223093|223094|223095|223096|223097|223098|223099|223100|223101|223102|223103|223104|223105|223106|223107|223108|223109|223110|223111|223112|223113|223114|223115|223116|223117|223118|223119|223120|223121|223122|223123|223124|223125|223126|223127|223128|223129|223130|223131|223132|223133|223134|223135|223136|223137|223138|223139|223140|223141|223142|223143|223144|223145|223146|223147|223148|223149|223150|223151|223152|223153|223154|223155|223156|223157|223158|223159|223160|223161|223162|223163|223164|223165|223166|223167|223168|223169|223170|223171|223172|223173|223174|223175|223176|223177|223178|223179|223180|223181|223182|223183|223184|223185|223186|223187|223188|223189|223190|223191|223192|223193|223194|223195|223196|223197|223198|223199|223200|223201|223202|223203|223204|223205|223206|223207|223208|223209|223210|223211|223212|223213|223214|223215|223216|223217|223218|223219|223220|223221|223222|223223|223224|223225|223226|223227|223228|223229|223230|223231|223232|223233|223234|223235|223236|223237|223238|223239|223240|223241|223242|223243|223244|223245|223246|223247|223248|223249|223250|223251|223252|223253|223254|223255|223256|223257|223258|223259|223260|223261|223262|223263|223264|223265|223266|223267|223268|223269|223270|223271|223272|223273|223274|223275|223276|223277|223278|223279|223280", + "text": "Ductal breast carcinoma" + }, + { + "baseId": "21233|22868|22881|23106|23107|23108|23312|23582|27386|27388|27391|27393|27394|27395|27397|27398|27403|27404|27405|27407|27408|27409|27413|27418|27422|27641|27642|27645|27652|28691|28692|28693|28694|28695|28696|28698|29000|29006|29011|29022|29755|30972|30973|31371|31378|32621|32623|36171|36173|40609|44227|48304|52759|53980|54391|54633|80852|88528|100947|132039|132041|132042|132043|132044|133263|133268|133271|133272|133274|133276|133277|133278|133282|136502|139098|139099|150515|150535|150657|150816|150855|151595|151732|151897|151955|152034|152428|152480|166218|171191|171613|171614|173901|176503|179419|180989|180995|181000|181001|181005|181011|181024|185331|185338|185345|185350|185366|185367|185369|185371|185375|185384|185394|185395|185420|206650|213392|213398|213402|213943|222738|232035|233761|236459|236461|236462|236463|236469|236471|236477|236479|236481|236500|242978|242980|245074|245076|260191|360335|362775|362777|362778|362826|362837|362867|362868|362894|362895|362896|362904|362905|362912|362928|362929|362952|362959|363053|363067|363068|363088|363112|363123|363174|363186|363197|363202|363241|363247|363248|363249|363250|363251|363258|363259|363260|363261|363262|363263|363264|363265|363266|363267|363269|363274|363275|363276|363277|363280|363281|363293|363294|363295|363296|363297|363298|363299|363300|363301|363302|363303|363304|363305|363306|363315|363316|363327|363328|363329|363340|363341|363342|363343|363344|363345|363346|363347|363349|363350|363351|363352|363353|363354|363355|363356|363357|363360|363361|363362|363363|363364|363365|363366|363367|363368|363369|363370|363376|363377|363378|363384|363385|363386|363388|363391|363392|363396|363397|363401|363402|363403|363420|363443|363444|363445|363446|363447|363448|363449|363450|363451|363452|363453|363454|363455|363456|363457|363458|363459|363460|363461|363462|363463|363464|363465|363466|363467|363468|363469|363470|363471|363472|363473|363474|363475|363476|363477|363478|363479|363480|363481|363482|363483|363484|363485|363486|363487|363488|363489|363490|363491|363492|363493|363496|363497|363498|363499|363503|363504|363505|363506|363507|363508|363512|363513|363514|363515|363516|363517|363518|363519|363520|363521|363522|363523|363524|363525|363526|363527|363528|363529|363530|363531|363532|363533|363534|363535|363536|363537|363538|363542|363543|363544|363545|363546|363547|363548|363549|363550|363551|363552|363558|363559|363560|363561|363562|363563|363564|363565|363566|363567|363568|363569|363570|363571|363572|363573|403028|410259|469117|485351|576029|576030|576031|619761|646766|653033|681925|681926|682250|791830|791831|791832|791833|791834|791835|791836|814476", + "text": "Squamous cell carcinoma of the head and neck" + }, + { + "baseId": "21234|21234|21236|21237|21240|21241|21241|21242|21243|39326|39327|169763|169767|169769|169774|169779|169787|169787|169794|169799|169802|169804|169805|169814|169816|169817|169818|169820|198645|208792|236944|260264|260265|338121|347754|347766|351608|352554|352555|352558|352560|352560|361274|389185|413616|415714|415714|420984|431022|431023|431023|438229|471123|471124|471581|471583|486308|486308|495587|513385|513669|513670|534798|534799|534807|538500|552230|552231|552267|571997|574136|575208|575509|577909|613193|622482|622483|622926|649497|649498|649499|649500|653620|653722|679833|689290|694739|694740|695877|695878|705931|758088|760983|773550|778653|786601|789132|792063|792064|792065|792066|792067|792068|792069|798770|801743|801744|821460|849340|849341|849342|849343|849344|849345|849346|904227|939315|939316|939317|951474", + "text": "Infantile neuroaxonal dystrophy" + }, + { + "baseId": "21234|21237|21240|39327|169761|169764|169765|169766|169767|169768|169769|169770|169772|169774|169775|169776|169777|169778|169779|169780|169781|169783|169784|169785|169786|169787|169788|169789|169790|169791|169792|169793|169794|169795|169796|169797|169798|169799|169801|169803|169804|169807|169808|169809|169810|169811|169812|169813|169814|169815|169816|169819|169821|677270|677271|801085", + "text": "Iron accumulation in brain" + }, + { + "baseId": "21234|21235|21237|21240|21241|21241|21242|21243|169766|169780|169787|169796|208794|208795|236944|347766|352560|415714|430564|430565|431023|486308|612360|961898|962186|972802", + "text": "Neurodegeneration with brain iron accumulation 2b" + }, + { + "baseId": "21234|21241|21242|21243|21243|39323|39324|39325|39328|169787|236944|347766|352560|415714|431023|486308", + "text": "Parkinson disease 14" + }, + { + "baseId": "21234|39323|169763|169767|169768|169774|169776|169779|169782|169783|169787|169800|169802|169805|169806|169818|208792|236944|338113|338122|347750|347751|347753|347754|347755|347756|347758|347759|347766|347767|347770|351604|351607|351608|351610|352549|352550|352551|352552|352553|352554|352555|352556|352557|352558|352559|352560|352561|361345|415714|471583|486308|513670|577909|694738|694739|695877|849343|849345|891296|891297|891298|891299|891300|891301|891302|891303|891304|891305|891306|891307|891308|891309|891833|891834|891835|891836|891837|918470", + "text": "PLA2G6-associated neurodegeneration" + }, + { + "baseId": "21234|48495|79451|79480|79505|94237|97346|97347|97348|97349|97350|97351|97352|97353|97354|97355|97356|97357|97358|102019|134762|153510|153517|194348|200392|200393|200755|200756|200757|202291|203036|207908|209322|209324|209325|209326|215014|359475|360894|361123|361154|361168|362170|389102|404850|424349|431497|431498|431499|431500|431501|431502|431503|431504|431505|431506|439069|439633|439634|439635|443058|444034|481029|481046|514196|514201|514214|535400|535402|535417|535418|535420|535421|535423|535424|535427|535428|535429|535430|535433|535434|535437|535438|535443|535445|535449|535457|535459|535462|535463|535465|535469|535474|535480|535481|535482|535483|535485|535486|535487|535490|535492|535493|535496|535497|535499|535500|535502|535503|535508|535509|535512|535528|535529|535530|535535|535540|535542|535546|535549|535550|535551|535552|535557|535563|535567|535568|535569|535572|535579|535580|535585|535587|535599|535605|535606|535607|535609|535612|535614|535621|535624|535625|535628|535631|535636|535638|535643|535647|535650|535651|535652|550843|550849|552225|578654|581714|581715|581850|581851|581852|581853|581854|590084|622944|626368|677400|678945|682393|682394|682395|800988|801109|801227|802100|832667|962072|963782|965484|965572|965579|966234|966235|966239|966243|966247|966254|966258|966261|966265|966272|966282|966283|966287|966294|966300|966307|966313|971420|971455|971459|971478|971496|971497|980674|980711|980713|980719", + "text": "Autistic disorder of childhood onset" + }, + { + "baseId": "21235|22501|22745|22745|24680|27809|34374|79331|181454|196365|207896|210585|213566|263234|263305|267991|268805|274788|299476|299490|301862|301890|301973|306312|306339|306415|306416|306417|306601|306602|359794|360812|360878|360906|360925|361043|361060|361062|362161|362161|384443|441283|461088|513942|514104|514152|514158|551427|551795|610516|613540|676964|677220|678943|678959|681597|681600|794276|800406|800407|800412|800956|800984|801165|801165|921254|921257|921260|962130|963089|963090", + "text": "Cerebellar ataxia" + }, + { + "baseId": "21235|26867|153385|197521|358027|362152|513980|513981|514155|514159|514160|550330|590049|792692|801518|801519|806406|858765|858766|918497", + "text": "Developmental regression" + }, + { + "baseId": "21238", + "text": "Karak syndrome" + }, + { + "baseId": "21244|21245|21247|21248|21250|21251|21253|21254|70983|70984|70985|70986|70987|70988|70989|70990|70991|70992|70993|70994|70995|70996|70997|70998|70999|71000|71001|71002|71003|71004|71005|71006|71007|71008|71009|71010|71011|71012|71013|71014|71015|71016|71017|71018|71019|71020|71021|71022|142899|142900|142901|142902|200280|200281|320312|320318|320321|320322|320323|320328|320329|328906|328916|328917|328927|335504|335508|335516|335517|335526|335527|335537|335556|335563|335564|337382|337388|337395|337396|337397|337404|337409|337412|337415|337417|337419|337423|337424|373000|373723|374102|409080|415385|430998|463118|504675|504685|504956|527837|527965|527966|527979|527981|528039|552172|566296|566304|566316|567763|567866|568744|568747|568754|572741|572743|614047|642194|642195|652583|652858|739166|739167|753976|753978|753980|753981|753982|769725|769728|775907|776054|776060|779847|784671|784673|784676|784677|788132|804907|820604|820605|820606|820607|820608|820609|841179|841180|841181|841182|841183|841184|841185|841186|841187|841188|841189|841190|841191|871718|871719|871720|871721|871722|871723|871724|871725|871726|871727|871728|871729|871730|871731|872361|872362|926982|926983|926984|926985|936551|936552|948477|948478|948479|948480|948481|957171|957172|957173|957174|957175|957176|957177|960083|979468|979469|979470|979471|979472|979473|979474|979475", + "text": "Lysinuric protein intolerance" + }, + { + "baseId": "21255|21256|21261|39322|101059|101064|101064|101066|101067|101069|101070|101071|101072|101073|101074|101075|101076|141778|169756|169757|169758|169759|169759|169760|172277|177170|177815|177816|190839|191678|191680|194401|194402|194403|208788|208789|257611|267775|271995|273963|337960|337964|337975|337976|337978|337984|337991|337994|347602|347611|347612|347614|347620|347621|347628|347630|347632|347642|347643|351481|351483|351484|351488|351489|351491|351493|351495|351498|351500|351501|351504|351505|351506|351508|351509|352487|352489|352490|352491|352492|352493|352494|352495|352496|378712|378789|379848|379850|415713|426374|470264|470267|470270|471113|471118|471121|471552|471555|471564|471568|471572|471951|471952|471961|471962|471965|508400|508407|534269|534280|534282|534408|534412|534419|534421|534424|534431|534777|571978|571986|571987|573232|573399|573399|573403|573404|573909|574124|574126|574128|577906|577907|649460|649461|649462|649463|649464|649465|649466|649467|649468|649469|649470|649471|653603|653698|694719|694720|694724|694727|694728|705904|705905|717416|742867|773533|821395|821459|849304|849305|849306|849307|849308|849309|849310|849311|849312|849313|849314|849315|891178|891179|891180|891181|891182|891183|891184|891185|891186|891187|891188|891189|891190|891191|891192|891193|891194|891195|891196|891197|891198|891199|891200|891821|891822|891823|891824|904221|929482|929483|939303|939304|939305|939306|939307|939308|951463|951464|959089|959090|959091", + "text": "Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6" + }, + { + "baseId": "21257|21258|21259|21260|101059|101064|101064|101066|101067|101069|101070|101071|101072|101073|101074|101075|101076|141778|169756|169758|169759|169759|169760|177815|191680|208789|267775|271995|273963|337960|337964|337975|337976|337978|337984|337991|337994|347602|347611|347612|347614|347620|347621|347628|347630|347632|347642|347643|351481|351483|351484|351488|351489|351491|351493|351495|351498|351500|351501|351504|351505|351506|351508|351509|352487|352489|352490|352491|352492|352493|352494|352495|352496|379850|471568|486618|508400|534424|553159|573399|694727|891178|891179|891180|891181|891182|891183|891184|891185|891186|891187|891188|891189|891190|891191|891192|891193|891194|891195|891196|891197|891198|891199|891200|891821|891822|891823|891824", + "text": "Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6" + }, + { + "baseId": "21262|21263|21264|21265|21266|21267|21268|39319|39320|39321|99965|177017|177280|178106|191019|192647|192749|193179|193504|193506|194903|226533|227365|322135|322143|322146|322148|322154|322155|322159|322162|322164|322167|322174|322176|322180|331421|331424|331431|331432|331443|331453|331462|331469|331476|331479|331482|331484|331491|331492|338321|338325|338328|338332|338352|338353|338359|338361|338364|338367|338368|338369|338374|338384|338386|338389|338394|338403|340130|340131|340136|340140|340141|340142|340145|340146|340147|340153|340155|340156|340159|432312|432313|584920|612158|620506|620507|620508|620864|620865|620866|703109|703111|725987|725988|725989|725990|725991|725992|739534|770069|800364|800372|818309|842107|842117|842119|856805|873155|873156|873157|873158|873159|873160|873161|873162|873163|873164|873165|873166|873167|873168|873169|873170|873171|873172|873173|873174|873175|873176|873177|873178|873179|873180|873181|873182|873183|873184|873185|873186|873187|873188|873189|873190|873191|873192|873193|873194|873195|873196|873197|873198|873199|873200|876483|876484|876485|876486|876487|876488|919564|965742", + "text": "Congenital stationary night blindness, type 1C" + }, + { + "baseId": "21269", + "text": "High density lipoprotein cholesterol level quantitative trait locus 8" + }, + { + "baseId": "21270|21271|21272|21273|21274|141974|141975|191579|231812|231813|244698|254369|254370|315506|315510|315511|315515|315519|315521|315529|315530|315534|315537|315542|315543|315544|315549|315550|315557|315559|315561|315562|315573|315581|322412|322418|322420|322422|328548|328553|328558|328562|328575|328579|328580|328596|328605|328611|329845|329846|329851|329852|329862|329863|372769|398790|398933|461740|462375|526597|540457|612295|672004|672005|672006|672007|788862|792785|868974|868975|868976|868977|868978|868979|868980|868981|868982|868983|868984|868985|868986|868987|868988|962983|980944|981760", + "text": "Charcot-Marie-Tooth disease, type 4B1" + }, + { + "baseId": "21275|21276|21278|21279|44695|53936|53937|53939|53940|174347|174484|174486|174487|174488|189814|189816|205147|229426|237601|239890|299095|299096|299100|299106|299107|299116|299118|299121|299127|299128|299129|299135|299136|299137|299149|301509|301524|301525|301534|301545|301549|301550|301551|301556|305877|305889|305906|305907|305909|305910|305921|306132|306134|306139|306142|306158|306171|306172|306197|306198|612088|691941|831571|895384|895385|895386|895387|895388|895389|895390|895391|895392|895393|895394|895395|895396|895397|895398|895399|895400|895401|895402|895403|895404|895405|895406|895407|895408|895409|895410|895411|895412|895413|895414|895415|895416|895417|895418|895419|896191|896192|905062|970821", + "text": "Deafness, autosomal dominant 10" + }, + { + "baseId": "21277|44695|53936|53937|53938|53939|53940|174347|174482|174484|174486|174487|174488|189808|189809|189812|189814|189815|189816|189817|189818|229421|229426|239887|239888|239889|239890|239892|258434|299095|299096|299100|299106|299107|299116|299118|299121|299127|299128|299129|299135|299136|299137|299149|301509|301524|301525|301534|301545|301549|301550|301551|301556|305877|305889|305906|305907|305909|305910|305921|306132|306134|306139|306142|306158|306171|306172|306197|306198|395062|395207|395219|395222|395414|395683|395684|395685|455283|455286|455296|455383|455389|455756|455962|456140|456142|456148|456150|491559|509796|521437|521438|521440|521443|521725|521770|521774|521779|521784|522024|522027|560465|560467|560469|560600|560602|560604|563392|563393|563396|565435|565441|634621|634622|634623|634624|634625|634626|634627|634628|634629|634630|634631|634632|634633|634634|634635|634636|634637|634638|651590|685191|686802|686804|689812|689813|691941|699329|765503|819663|831562|831563|831564|831565|831566|831567|831568|831569|831570|831571|831572|831573|831574|831575|831576|851314|852243|895384|895385|895386|895387|895388|895389|895390|895391|895392|895393|895394|895395|895396|895397|895398|895399|895400|895401|895402|895403|895404|895405|895406|895407|895408|895409|895410|895411|895412|895413|895414|895415|895416|895417|895418|895419|896191|896192|924260|924261|924262|924263|924264|933181|940840|944888|944889|954372|954373", + "text": "Dilated cardiomyopathy 1J" + }, + { + "baseId": "21280|21281|21282|21283|21284|21285|21286|21287|21288|34275|34276|34277|34278|34279|54268|54271|54272|76796|76801|166117|172446|204593|204594|204595|204596|204597|204598|204599|204600|204601|204602|496165|576062|581958|613748|967260", + "text": "Autosomal dominant nonsyndromic deafness 2A" + }, + { + "baseId": "21289|21290|21291", + "text": "Mucosa-associated lymphoma" + }, + { + "baseId": "21289|21304|21305", + "text": "Male germ cell tumor, somatic" + }, + { + "baseId": "21292|21293|21294|21295|21296|21297", + "text": "Follicular lymphoma" + }, + { + "baseId": "21298|24552|24553|608935", + "text": "T-cell acute lymphoblastic leukemia" + }, + { + "baseId": "21299", + "text": "Sezary syndrome" + }, + { + "baseId": "21306|76959|76960|76961|805099", + "text": "Coronary artery disease, autosomal dominant 2" + }, + { + "baseId": "21307|21308|21309|21310|21311|21312|21313|21314|21315|21316|21317|21318|21331|48770|48771|48772|48773|48774|48775|254285|262637|362379|362380|791165|858277|858278", + "text": "Osteoporosis with pseudoglioma" + }, + { + "baseId": "21319|432371", + "text": "High bone mass" + }, + { + "baseId": "21320|21321|21322|21324|181388", + "text": "Autosomal dominant osteopetrosis 1" + }, + { + "baseId": "21321|21322|21323", + "text": "Worth disease" + }, + { + "baseId": "21321", + "text": "Van Buchem disease type 2" + }, + { + "baseId": "21326|21327|21331", + "text": "Exudative vitreoretinopathy 4, autosomal dominant" + }, + { + "baseId": "21326|195712|226403|226404|226404|226405|226407|237630|304917|304932|304933|309667|315366|315379|315387|315395|315415|315417|322226|328347|328353|329665|431719|431758|431759|434765|800563|800564|800574", + "text": "Familial exudative vitreoretinopathy" + }, + { + "baseId": "21328|21329|21330|21333|21334", + "text": "Exudative vitreoretinopathy 4, autosomal recessive" + }, + { + "baseId": "21332", + "text": "Exudative vitreoretinopathy 4, digenic" + }, + { + "baseId": "21335|21336|21337|100280|106506|106507|106508|106509|237146|257368|335785|345492|345495|350111|351152|351153|351154|351155|351158|378134|422327|469419|469421|469428|470463|470468|471447|471448|471452|533578|533582|533625|533647|571306|571307|572845|572938|573576|573577|575117|575118|648767|648768|648769|648770|648771|648772|648773|648774|648775|653534|695847|780135|850634|850639|850641|850642|850643|850644|850645|850647|886278|886279|886280|886281|886282|886283|886284|887473|929223|939008|939009|940510|941254|951129", + "text": "Congenital disorder of glycosylation type 1E" + }, + { + "baseId": "21338|204404|204404|271607", + "text": "Familial expansile osteolysis" + }, + { + "baseId": "21339|23147|23149|190424|198653|198654|204404|204405|247436|251872|251872|251873|251874|251874|251875|251876|251876|251877|251878|260472|266298|271607|271834|273902|297254|297255|299249|303455|332146|332149|332150|332151|332153|332154|342324|342325|342331|342332|342334|342338|342343|342349|347744|347745|347746|347752|347760|347763|349118|349128|349129|349134|349141|349144|368605|368616|406734|440879|440880|440880|440881|454867|454870|454871|454874|455001|455004|455006|455009|455013|455014|455474|455485|455486|455488|455490|455492|455723|495500|521095|521353|521355|521466|521476|521644|521649|560406|560408|560410|563086|563088|576805|633830|633831|633832|633833|633834|633835|633836|633837|633838|633839|633840|633841|633842|633843|633844|633845|633846|633847|651328|691836|691837|691838|691839|691840|699040|699043|699044|709848|716022|721414|721415|727766|741423|744221|749450|765071|777447|777539|777547|782265|819585|830757|830758|830759|830760|830761|830762|830763|830764|830765|830766|830767|830768|830769|830770|830771|830772|851907|879693|879694|879695|879696|879697|879698|879699|879700|879701|879702|879703|879704|879705|879706|879707|879708|879709|879710|879711|879712|879713|879714|879715|879716|879718|879719|879720|879721|879722|879723|879724|879725|879726|879727|879728|879729|879730|879731|879732|879733|879734|879735|879736|879737|879738|880672|880673|880674|880675|880676|894062|924020|924021|924022|924023|924024|924025|924026|944580|944581|944582|944583|944584|954148|954149|954150|959763", + "text": "Paget disease of bone 2, early-onset" + }, + { + "baseId": "21340|21341|21342|21343|21344|190424|266298|271607|271834|273902|332146|332149|332150|332151|332153|332154|342324|342325|342331|342332|342334|342338|342343|342349|347744|347745|347746|347752|347760|347763|349118|349128|349129|349134|349141|349144|716022|727766|741423|879693|879694|879695|879696|879697|879698|879699|879700|879701|879702|879703|879704|879705|879706|879707|879708|879709|879710|879711|879712|879713|879714|879715|879716|879718|879719|879720|879721|879722|879723|879724|879725|879726|879727|879728|879729|879730|879731|879732|879733|879734|879735|879736|879737|879738|880672|880673|880674|880675|880676", + "text": "Autosomal recessive osteopetrosis 7" + }, + { + "baseId": "21345|21346|76990|334431|344295|344304|349406|349409|349410|350418|620649|882549|882550|882551|882552|882553|882554|882555|882556|882557|882558|882559|882560|882561|882562|882563|882939|882940", + "text": "Infertility associated with multi-tailed spermatozoa and excessive DNA" + }, + { + "baseId": "21347|21349|21350|578378|965211", + "text": "Mullerian aplasia and hyperandrogenism" + }, + { + "baseId": "21348|578378", + "text": "SERKAL syndrome" + }, + { + "baseId": "21351", + "text": "Lumbar disc disease, susceptibility to" + }, + { + "baseId": "21352|21353|21354|21355|21356|21357|21359|94534|142630|208599|238353|243345|265986|333680|333685|333686|343684|349023|349028|349030|349032|349034|349917|349918|349920|349921|430219|430220|557386|578653|882094|882095|882096|882097|882098|882896|882897|882898|965627|965628", + "text": "Diamond-Blackfan anemia 1" + }, + { + "baseId": "21360|21361|21362|21363|21364|21365|21366|21367|21368|21369|21370|21371|21372|21373|21374|21375|21376|21377|21378|97542|98279|98280|98281|98282|98283|98284|98285|98286|98287|176996|177496|186781|186782|186783|186784|190535|190714|191131|191617|194259|195547|200164|200174|200175|200178|200179|200180|204411|227330|236999|252988|252989|253325|253328|253330|259915|260670|260671|260672|260673|271748|303680|303681|303690|303693|303697|303698|303699|303705|303706|303715|307052|307053|307059|307060|307064|307069|307072|307073|307074|307083|307084|307089|307090|307091|307111|307112|307115|307116|307119|307122|307124|307127|311160|311162|311163|311201|311210|311211|312042|312049|312060|312061|312065|312066|312067|312069|312077|312078|312080|312094|312111|312113|312131|312132|312144|316786|316789|316793|316794|316795|317203|317204|317206|317223|317229|357775|357776|357777|357778|357779|357780|357781|357782|357783|370425|370688|372324|415163|421714|425824|433368|458127|458419|458425|458888|458890|458934|458935|458938|487247|487354|502584|502694|502699|503002|503015|524074|524076|524366|524588|524631|524639|544680|544683|544687|544690|544701|544704|544992|544994|544996|544997|545001|545002|545004|545113|545115|545117|545125|545128|545131|545207|545208|545211|545216|545221|545226|545228|545233|545238|563560|565354|565571|565573|565575|568550|568555|612131|612283|620321|620809|621294|621295|637784|637785|637786|637787|637788|637789|651832|655902|655903|692594|692595|692596|695419|700836|723363|723365|736928|736929|751439|751440|751441|751442|751443|751444|775347|775488|783297|790765|790846|801663|801664|801665|801666|801667|801668|801669|801670|801671|801672|801673|820076|820077|835570|835571|835572|835573|835574|835575|835576|835577|835578|835579|852487|901185|901186|901187|901188|901189|901190|901191|903322|903323|903324|917471|925406|925407|925408|925409|934571|934572|934573|934574|940925|940926|946397|955708|955709|955710|955711|955712|955713|959913|961782|978569|978570|978571|980932|981663|981664|981665|981666|981667", + "text": "Citrullinemia type I" + }, + { + "baseId": "21373|98282|98286|99030|99032|191131|253327|311163|312111|312132|370688|421714|637783|835572", + "text": "Citrullinemia" + }, + { + "baseId": "21374|21375", + "text": "Citrullinemia, mild" + }, + { + "baseId": "21379|21380|21381|21382|21383|138087|138088|138090|138093|205168|207863|241077|241078|241080|241081|241084|247056|254127|254128|313736|313738|313753|313755|313760|313761|313763|313779|313785|319945|319946|319947|319949|319952|319955|319957|319961|319977|326147|326150|326155|326156|326157|326159|326161|327056|327060|327063|327066|327067|327070|327071|327089|327095|327096|327100|408323|429237|461117|564550|687747|796556|796557|867781|867782|867783|867784|867785|867786|867787|867788|867789|867790|867791|867792|867793|867794|867795|867796|867797|867798|867799|867800|917880|917882|917883|980465", + "text": "Fanconi anemia, complementation group F" + }, + { + "baseId": "21384|622682|622683", + "text": "Familial advanced sleep phase syndrome 1" + }, + { + "baseId": "21385|21386|227228|283144|283145|283148|283152|283154|283882|283885|283886|283889|283890|283891|283897|283898|283899|285621|285626|285627|285630|285632|285633|285640|285643|285647|286049|286053|286054|286055|413571|449299|449304|508775|512891|516699|516751|516757|516763|516852|557422|629030|629031|677409|825268|881699|881700|881701|881702|881703|881704|881705|881706|881707|881708|881709|881710|881711|881712|881713|918701|942437", + "text": "Dystonia 16" + }, + { + "baseId": "21388|21389|21390|21391|21403|21404|21406|21409|34195|34196|34197|34198|34199|34200|34201|34202|39313|39315|39316|99992|135701|135702|135703|135704|135705|135706|135707|135709|135711|135712|135712|135713|135714|135716|135717|135719|142779|167457|167458|178056|178057|178058|178059|191022|191661|192649|192753|192977|193181|195314|231501|231504|238383|244319|250347|250350|250353|272066|275422|282546|282547|282548|282552|282559|282569|282570|282571|282573|282586|282589|282597|282598|282599|282600|282603|282604|283189|283191|283192|283193|283199|283202|283205|283209|283226|283230|283231|283243|283254|283257|283268|283297|283306|283307|283308|283310|283311|283323|283334|283335|283336|283354|283355|283356|283357|284812|284813|284820|284821|284826|284835|284836|284838|284841|284842|284846|284848|284849|284864|284866|284867|284868|284871|284873|284874|284879|284887|285257|285259|285260|285263|285267|285268|285269|285287|285288|285291|285295|285322|285331|285332|285333|285347|285357|285359|285361|285362|285365|285388|285392|285393|285406|391507|391619|449072|449093|449189|449235|516685|516796|538953|557686|614232|628887|628921|628939|655175|881369|881370|881371|881372|881373|881374|881375|881376|881377|881378|881379|881380|881381|881382|881383|881384|881385|881386|881387|881388|881389|881390|881391|881392|881393|881394|881395|881396|881397|881398|881399|881400|881401|881403|881404|881405|882826|904106", + "text": "Primary erythromelalgia" + }, + { + "baseId": "21389", + "text": "Abnormality of pain sensation" + }, + { + "baseId": "21389|360927", + "text": "Acute episodes of neuropathic symptoms" + }, + { + "baseId": 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7|942388|942389|942390|942391|942392|942393|942394|942395|942396|952765|952766|952767|952768|952769|952770|952771|952772|952773|952774|952775|952776|952777|952778|952779|952780|959592|959593|959594|959595|960453", + "text": "Generalized epilepsy with febrile seizures plus, type 7" + }, + { + "baseId": "21389", + "text": "SCN9A-related peripheral neuropathies associated with increased pain" + }, + { + "baseId": "21392|21393|21394|21401|21402|21406|21409|34196|39313|39315|39316|99992|135701|135702|135703|135704|135705|135706|135707|135709|135711|135712|135712|135713|135714|135716|135717|135719|142779|167457|167458|167459|178056|178057|178059|191022|191661|192649|192753|192977|193181|195314|198610|231501|231504|238383|244319|250347|250350|250353|272066|275422|282546|282547|282548|282552|282559|282569|282570|282571|282573|282586|282589|282597|282598|282599|282600|282603|282604|283189|283191|283192|283193|283199|283202|283205|283209|283226|283230|283231|283243|283254|283257|283268|283297|283306|283307|283308|283310|283311|283323|283334|283335|283336|283354|283355|283356|283357|284812|284813|284820|284821|284826|284835|284836|284838|284841|284842|284846|284848|284849|284864|284866|284867|284868|284871|284873|284874|284879|284887|285257|285259|285260|285263|285267|285268|285269|285287|285288|285291|285295|285322|285331|285332|285333|285347|285357|285359|285361|285362|285365|285388|285390|285392|285393|285402|285406|391507|391619|449072|449093|449209|449235|481457|496215|516796|538953|557686|614232|628887|628921|628939|655175|881369|881370|881371|881372|881373|881374|881375|881376|881377|881378|881379|881380|881381|881382|881383|881384|881385|881386|881387|881388|881389|881390|881391|881392|881393|881394|881395|881396|881397|881398|881399|881400|881401|881402|881403|881404|881405|882826", + "text": "Indifference to pain, congenital, autosomal recessive" + }, + { + "baseId": "21395|21396|21397|21398|21399|21400|21406|21409|34196|39313|39315|39316|99992|135701|135702|135703|135704|135705|135706|135707|135709|135711|135712|135712|135713|135714|135716|135717|135719|142779|167457|167458|178055|178056|178057|178058|178059|191022|191370|191661|192649|192753|192977|193181|195314|231501|231504|238383|244302|244319|250347|250350|250353|272066|273736|275422|282546|282547|282548|282552|282559|282565|282569|282570|282571|282573|282582|282586|282589|282594|282597|282598|282599|282600|282603|282604|283189|283191|283192|283193|283199|283202|283205|283206|283209|283226|283227|283230|283231|283243|283254|283257|283258|283259|283267|283268|283293|283297|283306|283307|283308|283310|283311|283322|283323|283334|283335|283336|283354|283355|283356|283357|284810|284812|284813|284820|284821|284826|284835|284836|284837|284838|284841|284842|284846|284848|284849|284864|284866|284867|284868|284871|284873|284874|284879|284887|285257|285259|285260|285263|285267|285268|285269|285287|285288|285291|285292|285295|285305|285321|285322|285329|285331|285332|285333|285347|285355|285356|285357|285359|285361|285362|285364|285365|285367|285388|285390|285392|285393|285402|285406|391507|391619|421316|439526|439527|449072|449093|449189|449235|516796|538953|557686|614232|628887|628921|628939|655175|881369|881370|881371|881372|881373|881374|881375|881376|881377|881378|881379|881380|881381|881382|881383|881384|881385|881386|881387|881388|881389|881390|881391|881392|881393|881394|881395|881396|881397|881398|881399|881400|881401|881402|881403|881404|881405|882826", + "text": "Paroxysmal extreme pain disorder" + }, + { + "baseId": "21406|27037|360928|792811", + "text": "Hypoglycemia" + }, + { + "baseId": "21407|21408", + "text": "Febrile seizures, familial, 3b" + }, + { + "baseId": "21409|34196|135701|135703|135712|135713|135717|167458|178055|178056|178057|178058|191370|191661|192753|192977|193181|238383|244319|250353|273736|275422|282547|282548|282552|282565|282571|282582|282589|282594|282597|282603|283189|283191|283192|283193|283205|283206|283227|283230|283231|283254|283258|283259|283267|283268|283293|283297|283306|283308|283322|283335|283336|284810|284813|284820|284821|284835|284837|284846|284848|284864|284867|284871|284874|285257|285260|285263|285267|285287|285291|285292|285305|285321|285329|285331|285333|285347|285355|285356|285364|285367|285390|285392|285393|285402", + "text": "Inherited Erythromelalgia" + }, + { + "baseId": "21410|21411|21412|21413|21414|21415|21416|21417|174290|174425|193123|207283|207284|226541|226542|226543|226544|226545|229310|229311|229313|229314|236990|252016|271075|298075|298078|298079|298086|298089|298093|298098|298100|298102|300338|300344|300357|300358|300367|300370|300371|300372|300374|300375|300376|300377|300379|300381|300393|300394|304617|304620|304632|304658|304668|304669|304674|304900|304906|304918|304919|304931|304939|304941|428467|428469|455246|455713|455714|521535|521538|521599|521603|521860|560379|560381|560383|560488|560490|560492|563225|563227|565196|612710|614290|614291|634013|634014|634015|634016|634017|634018|634019|634020|634021|634022|634023|634024|634025|634026|634027|634028|634029|634030|651279|682753|735202|735204|749592|749593|749594|749595|749596|765209|765210|765215|775049|775074|779130|782335|801071|819606|819607|830948|830949|830950|830951|830952|830953|830954|830955|830956|830957|830958|830959|830960|830961|830962|830963|830964|894685|894686|894687|894688|894689|894691|894692|894693|894694|894695|894696|894697|894698|894699|894700|894701|896134|896135|924102|924103|924104|924105|924106|924107|924108|924109|924110|924111|924112|924113|932948|932949|932950|932951|932952|932953|932954|932955|940010|940011|944651|944652|944653|944654|944655|944656|944657|944658|944659|954197|960568|960569|960570|961948", + "text": "Hermansky-Pudlak syndrome 2" + }, + { + "baseId": "21418|21419|21420|21421|21422|21423|21424|21425|21427|21428|176922|246855|298749|298751|298765|298772|301224|301225|301227|301230|301231|305601|305703|305705|305706|446858|511619|615922|620208|624850|626074|699260|721679|805460|816457|857385|895197|895198|896180", + "text": "Progressive pseudorheumatoid dysplasia" + }, + { + "baseId": "21429", + "text": "Pigmented nodular adrenocortical disease, primary, 3" + }, + { + "baseId": "21430|237517|237518|298056|298057|298060|298061|298066|298070|298071|300250|300254|300262|300264|300271|300273|300274|300292|300304|300317|300319|300320|300323|304477|304505|304506|304515|304517|304525|304531|304533|304536|304537|304538|304539|304543|304544|304550|304565|304567|304585|304599|304612|304613|304773|304774|304777|304804|304807|304813|304817|304818|304820|304826|304827|304830|304831|304832|304841|304845|304846|304894|304898|735198|735200|790564|894661|894662|894663|894664|894665|894666|894667|894668|894669|894670|894671|894672|894673|894674|894675|894676|894677|894678|894679|894680|894681|894682|894683|894684|896132|896133|918979|918980|920212|964261|964362", + "text": "Striatal degeneration, autosomal dominant 1" + }, + { + "baseId": "21431|21432|21433|48263|49895|49896|49897|49898|75278|75279|135969|135970|135971|135972|135973|135974|135975|135976|135977|205012|207402|207403|207405|207406|207407|207408|207409|207410|207411|207412|207413|213572|225824|225831|226901|227706|239898|239899|239900|244015|359770|360878|361343|362330|362429|362435|368917|395099|395101|395109|395111|395113|395233|395244|395246|395247|395443|395445|395448|395450|395453|395695|395696|395704|395709|406862|415049|421588|424377|424650|428617|428619|428624|428625|428626|428629|430962|431914|431915|438319|443960|455530|455538|455541|455542|455551|455559|455656|455660|455663|455670|455672|455696|455701|455702|455706|456122|456125|456129|456135|456373|456376|456383|481762|486745|488156|511673|511676|512822|513422|521575|521582|521587|521593|521594|521596|521601|521612|521614|521616|521620|521622|521871|521880|521881|521892|521896|521899|521908|521911|521946|521961|521962|521964|521970|521972|522282|522284|522288|522296|522298|522299|538386|550360|552106|560690|560692|560694|560698|560700|560791|560797|560801|563519|563521|563522|563527|563534|563535|563544|565586|565590|565592|565594|565613|565623|578447|579253|579265|579270|611393|611394|611395|611466|623587|626164|634839|634840|634841|634842|634843|634844|634845|634846|634847|634848|634849|634850|634851|634852|634853|634854|634855|634856|634857|634858|634859|634860|634861|634862|634863|634864|634865|634866|634867|651550|678958|683776|683777|683778|683779|683780|683781|685193|686827|686831|686832|686833|686834|686835|689822|691976|691977|691979|691980|691981|721992|735619|750041|750043|750044|765653|765657|782526|788800|790616|790617|790618|790619|790620|800668|801991|801992|801993|802057|819682|819684|819685|819686|821925|821926|821927|821928|821929|821930|821931|821932|821933|821934|821935|822260|831844|831845|831846|831847|831848|831849|831850|831851|831852|831853|831854|831855|831856|831857|831858|831859|831860|831861|831862|831863|831864|831865|831866|831867|851072|852022|852255|857646|861536|906187|919024|919025|920228|924333|924334|924335|924336|924337|924338|924339|924340|924341|924342|933291|933292|933293|933294|933295|933296|933297|933298|933299|933300|933301|933302|933303|933304|933305|940843|944980|944981|944982|944983|944984|944985|944986|944987|944988|944989|944990|944991|954425|954426|954427|954428|954429|960580|961606|962861|963608|963609|964030|964276|964277|964278|966681|969324|969699|970832|970833", + "text": "Mental retardation, autosomal dominant 5" + }, + { + "baseId": "21434|21435|21436|21446|21447|34132|34149|199884|246954|270859|273662|495655|495659|550594|550595|578659|578660|578661|578664|578665|609238|609239|622083|795463|798536", + "text": "Spondylocarpotarsal synostosis syndrome" + }, + { + "baseId": "21437|21438|21444|21445|34130|34131|34133|34135|34137|34139|34144|34148|193539|246954|251267|267835|268588|270886|270894|273662|310812|310813|310820|310829|310830|310831|310832|310842|310844|310848|310850|310852|310858|310859|310862|310864|310866|310868|310870|310878|310884|310887|310890|310892|310895|310899|310907|310918|310919|310928|310929|310930|310931|316068|316069|316072|316073|316074|316082|316090|316094|316099|316103|316111|316112|316114|316120|316133|316144|316148|316149|316156|316162|316169|316174|316175|316176|316177|316180|316181|316189|316190|316200|316201|316204|316205|316210|316220|316221|316223|316226|322169|322170|322172|322183|322185|322190|322191|322192|322196|322197|322199|322200|322212|322213|322218|322231|322232|322233|322236|322239|322240|322241|322242|322245|322246|322254|322260|322261|322266|322267|322274|322275|322276|322780|322783|322784|322785|322786|322789|322790|322801|322802|322803|322804|322806|322807|322808|322815|322816|322822|322831|322832|322845|322849|322876|322879|322880|322882|322887|322888|322890|322891|322892|322893|322894|322896|322900|513264|578424|682802|682815|790414|974887", + "text": "Larsen syndrome" + }, + { + "baseId": "21439|21440|34134|34136|34142|34143|34146|46907|131909|246954|259290|273662|291312", + "text": "Atelosteogenesis type 1" + }, + { + "baseId": "21440|21441|34138|34140|34145|34147|246954|273662|291312|359580|903494|918851|918852|918853|918854|974887", + "text": "Atelosteogenesis type III" + }, + { + "baseId": "21442|21443|246954|273662|578424", + "text": "Boomerang dysplasia" + }, + { + "baseId": "21448|21449|21450|21451|21452|21453|21454|21455|21456|21457|21458|21459|21460|21461|21462|21463|21464|21465|21466|21467|21468|36672|36673|36674|36675|36676|36677|36678|36680|36681|36682|36683|36684|36685|36686|36687|36688|36689|36690|36691|36692|36693|36694|36695|36697|36698|36699|36700|36701|36702|36703|36704|36705|36706|36707|36708|36709|36710|36711|36713|36715|36716|36717|36718|36719|36720|36721|36723|36724|36725|36726|36727|36728|36729|36730|36731|36732|36733|36735|36736|36737|36738|36739|36740|36741|36742|36743|36744|36745|36747|36748|36750|36751|36752|36753|36754|36755|36757|36758|36759|36760|36761|36762|36763|36764|36765|36766|36767|46831|46834|46842|47395|47396|47397|47398|47399|47400|99999|100001|100002|177225|190414|200083|200086|200090|200092|237754|237755|264226|265303|269839|270008|272965|272969|295272|295282|295283|295289|295292|295293|295298|295300|295304|295306|297106|297107|297109|297111|300759|300783|300786|300788|300791|300792|300793|300804|300816|300818|300823|300922|300926|300927|300930|300931|300942|357381|357382|357383|357384|357385|357386|357387|357388|357389|357390|357391|359545|359638|359651|361941|362413|367924|367932|367937|368197|368199|368341|368347|368353|368360|369600|406630|406631|406632|414985|421524|433009|438300|454338|454344|454349|454354|454357|454358|454360|454362|454377|454490|454493|454498|454505|454845|454846|454852|454854|454856|454857|454859|454860|454864|454866|454868|454878|454879|454884|455115|455119|455126|455130|455132|495236|500990|500993|513059|513554|520630|520632|520644|520858|520861|520863|521014|521017|521018|521023|521085|543291|543299|543301|543308|543311|543313|543317|543578|543580|543582|543584|543587|543588|543593|543594|543678|543679|543681|543683|543685|543777|543779|543784|543785|543790|560059|560061|560063|560065|560067|560069|560071|560073|560152|560154|560156|560158|560160|562671|562673|562675|562677|564519|564537|564547|564548|564558|564564|578429|621908|633052|633053|633054|633055|633056|633057|633058|633059|633060|633061|633062|633063|633064|633065|633066|633067|633068|633069|633070|633071|633072|633073|633074|633075|633076|633077|651249|651292|691688|691690|691691|698770|698771|698772|709615|721210|721211|734838|749203|749204|764818|764820|764821|787249|788773|795623|795624|799398|799399|801608|819536|819638|819639|830056|830057|830058|830059|830060|830061|830062|830063|830064|830065|830066|830067|830068|830069|830070|830071|830072|830073|830074|830075|851850|851892|892870|892871|892872|892873|892874|892875|892876|892877|892878|892879|892880|892881|892882|892883|892884|923795|923796|923797|923798|932640|932641|932642|932643|932644|932645|932646|939980|940795|944318|944319|944320|944321|944322|944323|944324|944325|953962|953963|953964|953965|953966|953967|953968|953969|953970|953971|953972|953973|953974|959746|959747|959748|961770|964112|978120|978121|978122|978123|978124|978125|978126", + "text": "Renal carnitine transport defect" + }, + { + "baseId": "21469", + "text": "THYROTROPIN RECEPTOR POLYMORPHISM" + }, + { + "baseId": "21469|21472|21475|21478|21481|21484|21487|21488|21489|21490|21491|21493|21496|139131|139133|139135|139137|139138|139139|139140|205285|215485|227361|227362|255092|255093|255095|321627|321628|321633|321634|321635|321636|330890|330891|330894|330904|330906|330908|330912|337547|337553|337556|337563|337564|337565|337571|337572|337585|337591|337607|337609|337613|339633|339636|339638|339642|339647|339648|339655|339657|339660|339661|339664|339665|429594|693609|739359|754183|791425|872794|872795|872796|872797|872798|872799|872800|872801|872802|872803|872804|872805|872806|872807|872808|872809|872810|872811|872812|872813|872814|872815|872816|872817|872818|872819|872820|872821|872822|872823|872824|872825|876459", + "text": "Hyperthyroidism, nonautoimmune" + }, + { + "baseId": "21469|21473|21474|21477|21478|21479|21480|21481|21482|21483|21484|21486|21494|21495|21497|21498|21499|21500|139131|139133|139135|139137|139138|139139|139140|187122|205285|215485|227361|227362|255092|255093|255095|321627|321628|321633|321635|330890|330891|330894|330904|330906|330908|330912|337547|337553|337556|337563|337564|337565|337571|337572|337585|337591|337607|337609|337613|339633|339636|339638|339647|339648|339655|339657|339660|339661|339664|339665|429594|612305|693609|739359|754183|872794|872795|872796|872797|872798|872799|872800|872801|872802|872803|872804|872805|872806|872807|872808|872809|872810|872811|872812|872813|872814|872815|872816|872817|872818|872819|872820|872821|872822|872823|872824|872825|876459|906178|906181", + "text": "Hypothyroidism, congenital, nongoitrous, 1" + }, + { + "baseId": "21470|21471|21472|21485|21490", + "text": "Thyroid adenoma, hyperfunctioning" + }, + { + "baseId": "21476", + "text": "THYROID CARCINOMA WITH THYROTOXICOSIS, SOMATIC" + }, + { + "baseId": "21481|45412|45413|45414|45415|45780|79466|79481|79508|99530|99532|99537|99546|99547|99559|99561|99564|142674|191002|191522|193103|201142|201560|201597|202741|206886|214847|224835|224836|224837|224843|224845|224846|224847|224851|282505|282516|282517|282522|282523|282527|282530|282532|282536|282540|282541|282542|283171|283180|283181|283182|283183|284767|284774|284775|284779|284782|284785|284786|284787|284795|284796|284797|284808|285215|285228|285235|285238|285241|285246|285247|285248|285252|285253|285256|354292|354296|354297|354300|354305|361124|361138|361140|361142|361143|361146|361155|362591|362592|362593|362594|397302|413569|426700|428861|445590|445592|465786|465789|465790|465791|465793|465795|465796|465799|465802|465806|465808|465812|465814|466504|466505|466507|466512|466515|466517|466533|466534|466538|466543|466761|466764|466768|466772|466775|466785|466788|466790|512217|529849|530067|530075|530086|530088|530093|530097|530191|530194|530196|530201|530203|530204|530366|530367|530385|530391|530393|530404|530406|530410|530606|530610|530613|530616|530620|530621|530626|530632|536067|551697|553412|568200|568209|569392|570311|570315|570317|570326|570328|570329|570333|570335|570337|570343|570344|570346|574095|574097|578035|608922|608933|621921|621922|621923|621924|623726|623731|623733|623734|623735|624877|644776|644777|644778|644779|644780|644781|644782|644783|644784|644785|644786|644787|644788|644789|644790|644791|644792|644795|644796|644797|644798|644799|644800|644801|644802|644803|644804|652578|653043|653278|679784|679940|693905|693906|703751|703752|703762|714994|726709|726717|731078|731081|740280|745240|755276|755280|822296|844034|844035|844036|844037|844038|844039|844043|844046|844049|844086|844087|844088|844089|852123|927873|927874|927875|927877|937504|937505|937506|937507|937511|937524|937525|937526|949446|949447|949451|949457|949474|949475|957816|957830|960171|964150|964287|964478|964522|964679|970257|970340", + "text": "Epilepsy" + }, + { + "baseId": "21481", + "text": "autistic features" + }, + { + "baseId": "21481|39943|202625|264298|354285|354286|354286|354287|354287|354288|354290|354295|354296|354297|354298|354298|354300|354305|360822|360938|360965|361086|425202|425203|444751|538627|622148|623665|623666|623667|672066|792771|916788|970336|970340|970344|970520", + "text": "Developmental delay" + }, + { + "baseId": "21492", + "text": "Hyperthyroidism, familial gestational" + }, + { + "baseId": "21501|21502|190983|195270|253314|253315|268653|269663|269663|273264|306902|306911|306915|306920|306927|306929|311078|311084|311096|311101|316683|316685|316686|317048|317051|317080|317081|317086|317087|317088|317090|513613|692578|695413|695414|901142|901143|901144|901145|901146|901147|901148|901149|901150|901151|901152|901153|901154|901155|901156|901157|901158|901159|901160|901161|901162|901163|903318|903319|903320", + "text": "Lethal congenital contracture syndrome 1" + }, + { + "baseId": "21501|21502|21503|21504|190983|195270|253314|253315|268653|269663|269663|273264|306902|306911|306915|306920|306927|306929|311078|311084|311096|311101|316683|316685|316686|317048|317051|317080|317081|317085|317086|317087|317088|317090|610536|610537|610538|610539|692578|692579|692582|692583|695413|695414|901142|901143|901144|901145|901146|901147|901148|901149|901150|901151|901152|901153|901154|901155|901156|901157|901158|901159|901160|901161|901162|901163|903318|903319|903320|978561|978562|978563|978564|978565|978566|978567|978568", + "text": "Lethal arthrogryposis with anterior horn cell disease" + }, + { + "baseId": "21501|21502|273264|444366|692580|695415|711770|736904", + "text": "Lethal congenital contractural syndrome Finnish type" + }, + { + "baseId": "21505|21506|193558|195974|195974|254173|254176|265404|267043|271125|314152|314158|314159|314163|314168|314170|320691|320692|320695|320695|320703|320706|320707|320708|326768|326782|326784|326787|326800|327727|327734|327737|327738|327740|490260|492179|587980|730769|802178|868019|868020|868021|868022|868023|868024|868025|868026|868027|868028|868029|868649|896571", + "text": "Peroxisome biogenesis disorder 8A" + }, + { + "baseId": "21507|21508|21509|286489|286492|286497|286503|286504|286509|286511|286519|286529|286532|286536|286552|286554|286559|286562|286565|286580|286581|286582|286583|287179|287180|287183|287184|287188|287190|287191|287199|287200|287211|287214|287228|287231|287243|287254|287271|287272|287273|287279|287280|287299|287300|287305|289527|289539|289541|289544|289558|289563|289578|289581|289584|289600|289601|289606|289607|289614|289619|289623|289625|289627|289637|289641|289981|289982|290010|290011|290012|290013|290014|290018|290022|290023|290024|290027|290028|290030|290032|290034|290035|290045|290046|290047|290049|290061|290065|290070|428060|885033|885034|885035|885036|885037|885038|885039|885040|885041|885042|885043|885044|885045|885046|885047|885048|885049|885050|885051|885052|885053|885054|885055|885056|885057|885058|885059|885060|885061|885062|885063|885064|885065|885066|885067|885068|885069|885070|885071|885072|887375|887376", + "text": "Erythrocytosis, familial, 4" + }, + { + "baseId": "21510|21511|21512|294086|294097|294098|294101|294102|294109|294111|294115|294116|294123|294125|294129|294130|294136|294137|294138|294140|294141|294142|294145|294146|295551|295552|295555|295563|295567|295570|295579|295581|295583|295588|295591|295599|295600|295602|295603|295605|295607|295610|295615|295617|295632|295639|295641|295651|295652|295660|299349|299358|299360|299362|299363|299364|299367|299374|299378|299380|299382|299386|299387|299391|299392|299393|299394|299395|299396|299397|299401|299405|299406|299407|299408|299410|299412|299413|299414|299417|299418|299425|299426|299427|299430|299433|299447|299449|536190|698621|709444|721059|721061|721062|764610|779211|790483|790484|892153|892154|892155|892156|892157|892158|892159|892160|892161|892162|892163|892164|892165|892166|892167|892168|892169|892170|892171|892172|892173|892174|892175|892176|892177|892178|892179|892180|892181|892182|892183|892184|892185|892186|892187|892188|892189|892190|892191|892192|892193|892194|892195|892196|892197|892198|892199|892200|895992|895993|895994", + "text": "Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation" + }, + { + "baseId": "21513|21514|21515|45639|45640|45641|174062|174072|192740|195508|205155|205156|221681|221689|221695|229586|240035|240066|252675|252694|252721|252744|252752|252758|252770|259857|265859|273561|302431|310521|310767|395584|395617|395748|395901|395919|396216|446887|456552|456980|457024|457617|522535|523191|538394|561807|561840|564206|564207|566687|566706|620255|620256|620257|635993|683866|683877|687021|687030|792769|798584|800942|815839|833438|833467|857594|857595|857596|857597|857604|861606|897831|897832|897833|897834|897835|897836|897837|897838|897839|897840|897841|897842|897843|897844|897845|897846|897847|897848|897849|897850|897851|897852|897853|897854|897855|897856|897857|897858|897859|897860|897861|897862|897863|897864|897865|897866|897867|897868|897870|897871|900337|900338|900339|900340|900341|900342|900343|900344|919099|963147", + "text": "Ciliary dyskinesia, primary, 7" + }, + { + "baseId": "21513", + "text": "CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS" + }, + { + "baseId": "21516|21517|21518|21519|21520|48248|48250|48251|76544|76545|99630|150296|150297|173544|173545|173546|173547|173548|173549|173550|173551|173552|173555|173557|173559|173560|173561|173562|173563|173564|173565|173566|173567|173568|173569|173570|173571|173682|173684|173685|173687|173690|173691|173692|173694|173695|173697|173698|173699|173700|173701|173702|173703|173704|173705|173707|173708|186048|186049|186050|190792|192969|194678|194702|195139|205552|212501|212503|221594|221595|221596|221597|221602|221603|221604|227278|229241|229242|229243|229245|229246|229247|229248|229249|229250|229252|229253|229254|229255|229256|229258|229260|229261|229262|229263|229264|229266|229267|229268|229269|229270|229271|239718|239719|239720|239721|239722|239723|239725|239727|239728|239731|239735|239738|239742|239744|239745|239762|239763|239765|239766|251680|251689|251691|251693|251706|251709|251712|251713|251715|251723|251725|251727|251734|251738|251741|251748|251750|251756|251761|251768|251771|251776|251788|251793|265368|270913|271935|295376|295377|295382|295383|295388|295389|295394|295396|295397|295457|295459|295473|295474|295489|295490|295491|295494|295495|295499|295501|295506|295511|295513|295520|295527|295529|295538|295540|295550|295554|295558|295560|295568|297170|297172|297173|297174|297176|297178|297179|297202|297278|297279|297280|297287|297294|297295|297306|297319|297320|297330|297346|297347|297348|297365|300918|300938|300940|300948|300949|300950|300957|300975|300982|300985|300988|300991|300998|301002|301003|301004|301007|301010|301014|301015|301026|301055|301068|301073|301074|301075|301080|301084|301115|301116|301127|301131|301134|301136|301138|301140|301153|301157|301177|301178|301179|301180|301188|301192|301193|301265|301283|301285|301286|301287|301291|301292|301300|301304|301315|301337|301345|301361|301379|301421|353893|359652|369620|394709|394736|394740|394769|394773|394820|394821|394827|394829|394983|395025|395055|395343|395367|454501|454509|454614|454624|454649|454678|454698|455046|455092|455093|455113|455368|455388|455412|455431|489983|496353|511555|520772|520988|521032|521119|521126|521128|536048|538372|543686|543690|543793|552084|560139|560155|560250|562790|589371|620777|633191|633203|633213|633232|633464|683666|683669|683671|683675|683701|683703|685171|685174|686622|686624|686629|686632|686646|686647|686693|686696|689777|689778|691706|691720|691751|698792|698794|734850|790516|830183|857590|857591|857592|857593|857603|892929|892930|892931|892932|892933|892934|892935|892936|892937|892938|892939|892940|892941|892942|892943|892944|892945|892946|892947|892948|892949|892950|892951|892952|892953|892954|892955|892956|892957|892958|892959|892960|892961|892962|892963|892964|892993|892998|892999|893000|893003|893004|893007|893008|893009|893010|893014|893015|893016|893017|893028|893029|893030|893031|893032|893033|893034|893035|893036|893037|893038|893039|893040|893041|893042|893043|893044|893045|893046|893047|893048|893049|893050|893051|893052|893053|893054|893055|893056|893057|893058|893059|893060|893061|893062|893071|893072|893073|893074|893076|893077|893078|893079|893080|893081|893082|893083|893084|893085|893086|893087|893088|893109|893110|896030|896031|896032|896035|896037|896038|896039|896040|896041|896043|896044|896045|896046|904211|917776|918922|980919", + "text": "Ciliary dyskinesia, primary, 3" + }, + { + "baseId": "21521|21522|21523|21524|21528|21530|21532|55248|55249|55250|55252|55253|172439|172440|172441|172443|172579|172580|172581|273253|280399|280422|280427|280751|280752|280759|280761|280775|280800|282163|282164|282174|282176|282177|282178|282181|282187|282193|282201|282267|282268|282271|282276|282277|282278|282286|282297|282299|282311|282319|282320|282321|282327|282344|513242|707362|864310|864311|864312|864313|864314|864315|864316|864317|864318|864319|864320|864321|864322|864323|864324|864325|864326|864327|864328|864329|864330|864331|918634", + "text": "Erythrokeratodermia variabilis et progressiva 1" + }, + { + "baseId": "21524|21525|273253", + "text": "Deafness, autosomal dominant 2b" + }, + { + "baseId": "21529", + "text": "Deafness, autosomal dominant, with peripheral neuropathy" + }, + { + "baseId": "21531|21532|32053", + "text": "Deafness, digenic, GJB2/GJB3" + }, + { + "baseId": "21536|79362|257330|413913|413914|469332|470297|470856|470859|470861|533438|533493|533498|533522|534017|572865|648586|689185|689186|689187|694527|848232", + "text": "Cataract 33, multiple types" + }, + { + "baseId": "21537|21538|134877|281450|281454|281457|281461|281470|281474|281477|281478|281485|281494|281495|281505|281506|282103|282104|282108|282110|282111|282112|282114|282116|282117|282118|282120|282121|282132|282133|282134|282135|282136|282139|282140|282141|283429|283436|283451|283452|283456|283457|283465|283469|283479|283482|283483|283486|283492|283493|283494|283502|283576|283588|283601|283602|283605|283607|283608|283609|283622|283625|380188|380189|620731|880754|880755|880756|880757|880758|880759|880760|880761|880762|880763|880764|880765|880766|880767|880768|880769|880770|880771|880772|880773|880774|880775|880776|880777|880778|880779|880780|880781|880782|880783|880784|880785|880786|880787|880788|880789", + "text": "Maturity-onset diabetes of the young type 7" + }, + { + "baseId": "21538|23898|23902|24144|27358|28830|29525|29566|29746|29970|29984|31129|39164|39165|44274|44279|44289|44846|44852|44873|44881|45075|45077|45093|45146|45462|45472|45483|45493|45494|45496|54599|54603|54606|54607|54608|54610|54612|54620|54624|77659|77759|101221|101222|101224|133981|134133|134430|134580|134581|134587|134601|134602|134604|134679|134686|134876|135209|135321|135327|135413|135415|135420|135500|135595|135602|135603|136194|136217|136220|138250|141616|141617|141622|168866|173817|173818|173842|173957|173964|173979|173980|177356|190191|190266|190460|191101|192417|196033|196036|196486|207019|207094|207095|207310|207484|207659|207849|207867|208397|208435|208628|208629|208634|211031|211032|211038|211053|211056|211057|211062|211074|211077|215036|215037|221324|221326|221331|221333|221334|221335|221336|221338|221339|229187|229188|237135|237219|237276|237302|238975|238977|238978|238992|238994|238996|238997|238999|239000|239009|239016|248553|251005|253899|254226|269283|270744|272968|273448|277131|281140|281740|281750|281751|282104|283576|288287|299746|301798|306735|306747|307058|308470|309571|309758|311503|312713|314467|318800|318803|319427|321672|328277|338447|359370|366944|366946|366963|366975|367005|367861|367863|367866|376007|380181|380182|380183|380184|380185|380186|380187|380188|380189|380190|380191|380192|380193|380194|380195|380196|380197|380198|380199|380200|380201|380202|380203|380204|380205|380206|380207|380208|380209|380210|380211|380212|380213|380214|380215|380216|380217|380218|380219|380220|380221|380222|380223|380224|380225|380226|380227|380228|380229|380230|380231|380232|380233|380234|380235|380236|380237|380238|380239|380240|380241|380242|380243|380244|380245|380246|380247|380248|380249|380250|380251|380252|380253|380254|380256|380257|380258|380259|380260|380261|380262|380263|380264|380265|380266|380267|380268|380269|380270|380271|380272|380273|380274|380275|393443|393476|402702|414899|428104|428119|428498|428664|429021|429195|429204|429373|429384|441107|441633|441635|451437|451645|451647|496327|500665|518653|518718|522709|539987|539988|539989|539990|539991|539992|539993|539994|539995|539996|539997|539998|539999|540000|540002|540003|540004|540005|540006|540007|540008|540009|540010|540011|540012|540013|540014|540015|540016|540017|540018|540019|540020|540021|540022|540023|540024|540025|540026|540027|540028|540029|540030|540031|540032|540033|540034|540035|540036|540037|540038|540039|542169|542588|546118|546501|553540|558646|572542|577178|587845|590556|590560|622429|684262|691491|717812|723580|735298|737143|742179|765400|796706|838133|885646|895739|895740|895744|905040|905041|905042|905043|905044|905045|905046|905047|905737|905738|905739|905740|905741|905742|905743|905744|905745|905746|905747|905748|905749|905750|905751|905752|905753|905754|905755|905756|905757|905758|905759|905760|905761|905762|905763|905764|905765|905766|905767|905768|905769|905770|905771|905772|905773|905774|905775|905776|905777|905778|905779|905780|905781|905782|905783|905784|905785|905786|905787|905788|905789|905790|905791|905792|905793|905794|905795|905796|905797|905798|905799|905800|905801|905802|905803|905804|905805|905806|905807|905808|905809", + "text": "Monogenic diabetes" + }, + { + "baseId": "21539|21540|21541|21542|21543|21544|21545|21546|21547|21548|21549|21550|21551|21552|21553|39306|39387|48579|48580|48581|48582|99432|99433|99434|99435|177001|177263|177681|186127|189128|190320|192821|192822|193170|193171|196116|196122|212828|212829|212830|212831|212833|222014|222015|222016|222018|227340|240900|260898|260909|260913|260926|260927|265616|265677|267756|268859|268973|269146|272217|274239|275001|312091|312095|312096|312097|312101|312102|312103|312104|312112|312114|312115|312116|312117|312124|312125|312126|312134|312136|312137|312138|312145|312149|312152|312153|312155|312157|312162|312168|317756|317757|317758|317762|317763|317764|317765|317791|317793|317794|317802|317803|317808|317810|317811|317821|317823|317826|317832|317837|317851|317852|317856|317864|317867|317868|317869|317876|317879|317880|317891|317892|317893|317897|317898|317899|317900|317912|317918|317919|317924|317933|323845|323847|323852|323856|323857|323872|323876|323877|323883|323884|323887|323897|323904|323912|323913|323918|323923|323925|323928|323930|323932|323941|323942|323951|323960|323966|323982|323985|324548|324549|324560|324561|324562|324564|324567|324570|324571|324577|324578|324584|324586|324600|324603|324607|324624|324625|324645|324654|324669|324678|324684|324699|324702|324703|324710|324714|324724|324731|353901|353902|359980|371020|371028|371669|371674|371948|408030|408035|430981|433511|433512|440139|440173|440179|440200|460465|460769|481536|492654|492920|493007|503016|503363|503556|552147|589052|609211|609212|609213|609214|609777|680048|680049|684203|684210|684218|687692|687697|687700|791024|791025|798631|798632|861596|866837|866838|866839|866840|866841|866842|866843|866844|866845|866846|866847|866848|866849|866850|866851|866852|866853|866854|866855|866856|866857|866858|866859|866860|866861|866862|866863|866864|866865|866866|866867|866868|866869|866870|866871|866872|866873|866874|866875|866876|866877|866878|866879|866880|866881|866882|866883|866884|866885|866886|866887|866888|866889|866890|866891|866892|866893|868583|868584|868585|868586|868587|868588|868589|868590|868591|868592|919314|920291|964352|980843|980844|981720|981721|981722|981723|981724|981725|981726|981727|981728|981729", + "text": "Short-rib thoracic dysplasia 3 with or without polydactyly" + }, + { + "baseId": "21540|21542|21546|21548|39306|39892|40345|40346|48581|76527|99434|99435|102031|102032|102947|102955|132657|136094|136095|136096|136097|136098|136099|136100|136101|136102|136103|136104|136105|136106|136107|177132|177263|177681|186127|186128|186129|186130|186131|190320|190896|191511|191512|191595|191838|191942|191943|192691|192691|192692|192702|192732|192782|192821|192822|192894|192938|193170|193171|195159|195418|195492|196122|198616|212121|212122|212123|212124|212291|212292|212293|212828|212829|212830|212831|212832|212833|214312|221116|221117|221367|221368|221369|222011|222013|222014|222015|222016|222017|222018|222019|226923|238377|240900|240901|240902|240903|250324|250325|250329|250332|250334|250335|250337|263847|264652|265616|265677|266000|266006|266009|266011|267756|268973|269092|269146|271765|272217|274991|274997|275001|282439|282504|283133|283158|283161|283168|283170|284715|284726|284730|284750|285195|285200|285204|289288|289299|289304|290086|290087|290095|293148|293153|293155|293164|293166|293185|293623|293636|293639|293642|294773|294797|298349|298359|298422|298440|312091|312095|312096|312097|312101|312102|312103|312104|312115|312117|312118|312124|312125|312126|312134|312136|312138|312145|312146|312152|312167|312168|317756|317757|317758|317762|317763|317764|317791|317802|317807|317808|317810|317811|317821|317823|317826|317832|317837|317851|317856|317864|317868|317869|317879|317880|317891|317893|317897|317899|317900|317912|317918|317919|323845|323852|323856|323857|323872|323876|323877|323882|323883|323884|323887|323897|323904|323906|323912|323913|323917|323918|323923|323925|323928|323929|323930|323937|323942|323951|323960|323964|323966|324548|324549|324560|324561|324564|324567|324570|324578|324600|324607|324645|324654|324678|324684|324699|324702|324714|324731|353542|353902|361512|365832|365835|371024|371669|373651|391469|393351|393400|397585|397593|397764|398130|398132|405068|408032|408471|420432|420432|420433|420434|425423|429161|430981|433511|433512|433515|433630|439055|440053|440055|440057|440059|440062|440063|440064|440067|440068|440071|440072|440074|440075|440083|440087|440088|440089|440090|440091|440092|440094|440095|440096|440098|440099|440101|440107|440110|440111|440114|440115|440117|440121|440125|440126|440127|440131|440132|440133|440135|440137|440138|440140|440142|440146|440148|440149|440151|440152|440154|440155|440164|440167|440168|440170|440173|440175|440177|440179|440182|440186|440187|440188|440189|440192|440195|440198|440199|440200|440202|440203|440204|440205|440210|440211|440213|440214|440216|440217|440219|443008|448813|448989|449094|449103|449109|452118|452268|460435|460437|460465|460769|460772|461202|461220|461222|481975|486675|488689|491328|492662|492663|493007|493010|503007|503019|503351|503556|516520|516603|516622|518956|525616|525618|525619|525694|525697|525700|525704|525858|525861|526024|526026|536612|549469|549470|549472|549473|549476|549477|549478|549479|549480|549481|549482|549483|549484|549485|549486|549487|549488|549489|549490|549491|549492|549492|549493|557602|557647|564103|564108|565046|566741|566745|582368|609189|609237|609505|609776|625837|628798|628799|628800|631022|631023|639358|639359|639360|639361|639362|639363|650891|652067|652215|655171|683413|683563|683564|683565|684203|684204|684206|684207|684209|684211|684214|684215|684217|684220|685144|685281|685889|685891|685893|686353|686354|686355|686356|686357|686358|686359|686360|686361|687691|687692|687694|687695|687697|687700|687701|687702|689674|689734|689989|689991|689993|690860|695181|733891|759040|762354|777183|783808|783809|819343|820287|820288|825099|825100|825101|827647|827648|827649|827650|827651|827652|827653|827654|837586|837587|837588|837589|837590|837591|837592|837593|851029|866862|866873|888290|888292|922337|925999|926000|926001|926002|926003|930910|930911|930912|930913|931814|931815|931816|931817|931818|931819|931820|935270|935271|935272|935273|940662|942330|943383|943384|943385|943386|943387|943388|943389|943390|943391|943392|943393|943394|947174|952750|952751|952752|953375|953376|953377|953378|953379|956302|959693|959958|960508", + "text": "Jeune thoracic dystrophy" + }, + { + "baseId": "21542|99432|99433|99434|101405|190320|191512|193171|195492|196116|212830|212833|222014|222018|247750|247751|250474|263847|268859|268973|273447|274239|283786|283829|284409|284412|284415|284460|284474|286856|292809|292820|294154|297755|312091|312097|312112|312114|312115|312116|312118|312126|312136|312137|312146|312149|312153|312155|312157|312162|312167|317764|317765|317791|317793|317794|317803|317807|317821|317852|317856|317867|317869|317876|317880|317892|317893|317897|317898|317924|317933|323847|323852|323857|323882|323906|323913|323917|323925|323929|323932|323937|323941|323964|323982|323985|324560|324561|324562|324571|324577|324578|324584|324586|324603|324624|324625|324669|324703|324710|324714|324724|440064|481523|481524|486678|496106|496107|609190|609205|609305|609306|654623", + "text": "Short Rib Polydactyly Syndrome" + }, + { + "baseId": "21542|360924", + "text": "Bowing of the long bones" + }, + { + "baseId": "21542|255586|360924|360944|514005|514055", + "text": "Narrow chest" + }, + { + "baseId": "21542|224877|263257|360924|550129|550226|801074", + "text": "Intrauterine growth retardation" + }, + { + "baseId": "21542|549477|620379|620380|620381|620382", + "text": "DYNC2H1-Related Disorders" + }, + { + "baseId": "21545|21546|21547|48579|48581|196212|353902|359980|371024|397593|408032|408035|433515|440106|440107|440108|440109|440112|440113|440118|440119|440120|440121|440122|440123|440124|440128|440129|440130|440133|440134|440136|440138|440139|440141|440143|440144|440145|440147|440150|440153|440156|440157|440158|440159|440160|440161|440162|440163|440164|440165|440168|440169|440171|440172|440174|440176|440178|440181|440183|440184|440185|440190|440191|440192|440193|440194|440196|440197|440200|440201|440206|440207|440208|440211", + "text": "Short-rib polydactyly syndrome type III" + }, + { + "baseId": "21554|71564|71565|210240|210241|210242|230444|230446|319588|334487|336196|336215|463630|528081|799740|981835|981836", + "text": "Primary pulmonary hypertension 2" + }, + { + "baseId": "21555|21556|21557|207900|207908|225857|364272|429299|429311|551307|551308|611407|611755", + "text": "Autism 17" + }, + { + "baseId": "21558|21559|21560|21561|71187|71188|71189|227428", + "text": "Cornea plana 2" + }, + { + "baseId": "21562|21563|21564|21565|135426|135427|135428|135429|142434|142435|142436|203472|203473|203474|203475|203476|203477|203478|203481|203485|203486|203488|203490|203491|203492|203493|224877|329015|329019|329020|329033|329035|329036|339028|339042|339044|339045|339049|339050|339053|339054|339055|339061|339066|339076|339077|345037|345045|345054|345061|345063|345064|345067|345069|346381|346382|346385|346387|346390|346391|346399|346400|353445|402121|402165|402168|422177|468353|494104|513137|531696|536941|571243|571246|571582|574506|580260|580351|584421|586651|614440|614441|646141|646142|646143|771607|845551|845552|845553|845554|845555|845556|845557|845558|845559|845560|845561|845562|877850|877851|877852|877853|877854|877855|877856|877857|877858|877859|877860|877861|877862|877863|877864|877865|877866|928359|938003|938004|938005|949995|958152|958153|964484", + "text": "Pyridoxal phosphate-responsive seizures" + }, + { + "baseId": "21566|21567|21568|21569|21572|21573|21580|21589|39304|204424|204641|251054|251061|251063|268855|271227|289676|289677|289681|289691|289697|289699|289708|289709|290445|290446|290447|290448|290449|290457|290469|290477|290479|290480|290481|290482|290484|293524|293534|293535|293536|293537|293549|293550|293557|293558|293559|293560|293564|293565|294092|294093|294094|294095|294096|294099|294103|294107|294112|294113|294122|294127|294128|294131|294132|294133|294134|294143|452004|489133|585757|620762|623592|677313|697986|733957|744043|790371|790372|790373|888497|888498|888499|888500|888501|888502|888503|888504|888505|888506|888507|888508|888509|888510|888511|888512|888513|888514|888515|888516|888517|888518|888519|888520|888521|888522|888523|888524|888525", + "text": "Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3" + }, + { + "baseId": "21566|21567|21572|21573|21575|21579|193526|204424|251054|251061|251063|264162|268855|271227|289676|289677|289681|289691|289693|289697|289699|289708|289709|289714|290445|290446|290447|290448|290449|290450|290457|290469|290472|290477|290479|290480|290481|290482|290484|290485|290486|293524|293534|293535|293536|293537|293545|293548|293549|293550|293557|293558|293559|293560|293564|293565|294092|294093|294094|294095|294096|294099|294103|294107|294112|294113|294122|294127|294128|294131|294132|294133|294134|294143|294144|353647|359504|367331|452004|452361|489133|519041|519219|559409|559411|561312|561322|562627|562628|562630|585757|620762|631112|631113|631114|631115|631116|631117|631118|631119|651044|697986|733957|744043|748148|827778|827779|888497|888498|888499|888500|888501|888502|888503|888504|888505|888506|888507|888508|888509|888510|888511|888512|888513|888514|888515|888516|888517|888518|888519|888520|888521|888522|888523|888524|888525|931856", + "text": "TP63-Related Spectrum Disorders" + }, + { + "baseId": "21570|21571|21588|80708", + "text": "Split-hand/foot malformation 4" + }, + { + "baseId": "21572|21581|21582|21583|21584|21590|21592|798526", + "text": "Rapp-Hodgkin ectodermal dysplasia syndrome" + }, + { + "baseId": "21574|21575|21583", + "text": "Hay-Wells syndrome of ectodermal dysplasia" + }, + { + "baseId": "21576|21579|21585|21586|21587|21589|21591|47571|47572|204361", + "text": "ADULT syndrome" + }, + { + "baseId": "21577|21578|918821", + "text": "Limb-mammary syndrome" + }, + { + "baseId": "21586|251054|251061|251063|268855|271227|289676|289677|289681|289691|289697|289699|289708|289709|290445|290446|290447|290448|290449|290457|290469|290477|290479|290480|290481|290482|290484|293524|293534|293535|293536|293537|293549|293550|293557|293558|293559|293560|293564|293565|294092|294093|294094|294095|294096|294099|294103|294107|294112|294113|294122|294127|294128|294131|294132|294133|294134|294143|489133|576317|585757|620762|697986|733957|744043|888497|888498|888499|888500|888501|888502|888503|888504|888505|888506|888507|888508|888509|888510|888511|888512|888513|888514|888515|888516|888517|888518|888519|888520|888521|888522|888523|888524|888525", + "text": "Orofacial cleft 8" + }, + { + "baseId": "21592", + "text": "Ankyloblepharon-ectodermal defects, cleft lip/palate" + }, + { + "baseId": 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+ "text": "Rhabdoid tumor predisposition syndrome 2" + }, + { + "baseId": "21594|21595|21597|23420|38568|49383|215305|268158|294669|294674|294679|296235|299981|299982|434595|434595|439689|454054|632528|632529|632530|632531|691640|698695|829538|892543", + "text": "Brachydactyly type A2" + }, + { + "baseId": "21596|213897|213898|213899|215305|268158|294669|294674|294679|296235|299981|299982|434595|439689|454054|632528|632529|632530|632531|677290|691640|698695|829538|892543", + "text": "Acromesomelic dysplasia, Demirhan type" + }, + { + "baseId": 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+ "text": "Pseudoxanthoma elasticum" + }, + { + "baseId": "21598|21598|21599|21599|21603|21610|21613|21618|39293|39294|39295|39296|260087|275332|426970|427040|858595|919611|919612", + "text": "Generalized arterial calcification of infancy 2" + }, + { + "baseId": "21598", + "text": "Papule" + }, + { + "baseId": "21598|21599|21610|21618|39295|260087|275332|426954", + "text": "Pseudoxanthoma elasticum, forme fruste" + }, + { + "baseId": "21622|21623|250955|288822|288826|288836|288838|288839|288850|289598|289599|289602|289603|292587|292588|292590|292591|292593|292799|292800|292801|292802|292806|292811|452207|452324|620106|630957|630958|759103|827566|888018|888019|888020|888021|888022|888023|888024|888025|888026|888027|888028|891572", + "text": "Cataract 12, multiple types" + }, + { + "baseId": "21624", + "text": "Snowflake vitreoretinal degeneration" + }, + { + "baseId": "21625|21626|21627|71026|71027|71028|71029|71030|71031|71032|281844|281846|281847|281851|281852|281858|281859|281860|281866|281867|281872|281877|281878|281882|281883|281884|281888|281889|282500|282503|282506|282507|282508|282509|282510|282512|282513|282514|282521|282524|282525|284144|284145|284150|284151|284152|284154|284157|284158|284161|284162|284165|284166|284168|284181|284187|284357|284362|284368|284372|284373|284374|284375|284376|284379|284380|284384|284388|284389|284428|284435|620031|719256|719257|719258|732769|881066|881067|881068|881069|881070|881071|881072|881073|881074|881075|881076|881077|881078|881079|881080|881081|881082|881083|881084|881085|881086|881087|881088|881089|881090|881091|881092|881093|881094|881095|881096|881097|881098|881099|881100|881101|881102|881103|881104|881105|882797|882798|882799|882800|882801", + "text": "Congenital lactase deficiency" + }, + { + "baseId": "21628|21629|21630|21631|21632|21633|21635|22310|190825|191377|191546|191667|191668|192005|192911|193125|194380|237083|250355|250356|250358|250361|250362|250363|250364|250366|250368|250369|250370|250371|266117|268530|268784|268874|268874|268960|270804|270936|272709|272792|272963|273360|273775|274050|274211|274318|274318|275088|275488|275527|282606|282611|282620|282625|282628|283360|283362|283363|283364|283365|283382|283385|283387|283407|284894|284906|284914|284915|284916|285408|285410|285412|285414|285416|285425|285432|285442|365697|365952|365959|366177|404753|405418|427939|489030|489226|491881|493332|494028|499135|499173|578392|585693|585991|586447|587291|587589|612260|614129|623130|707836|732908|732909|743837|762388|762393|762400|780940|780941|787109|790126|792722|851356|881406|881407|881408|881409|881410|881411|881412|881413|881414|881415|881416|881417|881418|881419|881420|881421|881422|881423|881424|881425|881426|881427|881428|881429|881430|882827|882828|882829|882830|977634|977635|977636|977637|977638|977639|977640|977641", + "text": "Progressive familial intrahepatic cholestasis 2" + }, + { + "baseId": "21629|21634|268874|270936|270936|272792|274318|404753|513515", + "text": "Benign recurrent intrahepatic cholestasis type 2" + }, + { + "baseId": "21629|284897|284910|285433|331904|331926|331942|342158|347528|347530|347531|348905|348908|915059", + "text": "Progressive familial intrahepatic cholestasis" + }, + { + "baseId": "21629|28726|28727|28728|28729|28730|28732|28735|28736|191497|192005|192083|193015|193434|195243|252953|252954|252955|252956|252957|252958|252959|265375|265376|267188|268874|274318|275489|275515|303476|303483|303485|303486|306890|306891|306901|306903|306906|311786|311788|311789|311817|311825|311827|311828|361407|361407|369290|369987|369991|371396|493148|578462|584498|585376|586619|587741|587966|589154|589239|608808|800992|800993|800994|801089|801090|801091|801092|801093|801094|801095|801096|801097|801098|801099|801100|801101|801232|801244|801245|801246|898447|898448|898449|898450|898451|898452|898453|898454|898455|898456|898457|898458|898459|898460|898461|898462|898463|898464|898465|898466|898467|900408|900409|919117", + "text": "Cholestasis, intrahepatic, of pregnancy 3" + }, + { + "baseId": "21636|21637|21638|21639|551989", + "text": "Bare lymphocyte syndrome, type II, complementation group B" + }, + { + "baseId": 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+ "text": "Bare lymphocyte syndrome 2" + }, + { + "baseId": "21640|21641|21642|21643|39283|39284|39285|39286|135502|135503|190523|190525|192448|208397|328485|328487|328490|328491|328497|328498|328500|328504|328508|328510|338432|338440|338441|338443|338447|344512|344514|344515|344517|344519|344522|344526|344535|345916|345919|345920|345925|345927|345928|429966|877526|877527|877528|877529|877530|877531|877532|877533|877534|877535|877536|877537|877538|877539|877540|877541|877542|877543|877544|877545|877546|877547|877548|877549|877550|877551|877552|970241", + "text": "Lipodystrophy, congenital generalized, type 4" + }, + { + "baseId": "21644|21645|21646|106808|106809|135423|135424|135425|181591|237315|243559|243560|243561|243563|243564|243565|243566|243566|243567|243568|243569|243570|243571|243572|265656|268458|268460|334694|334696|334697|334698|334700|334701|334704|334708|334712|334714|334717|334720|334727|344523|344524|344527|344529|344531|344534|349561|349562|349566|349567|349568|349571|349572|350567|350570|350573|350576|350580|350581|350582|350584|350585|353531|353532|360448|376886|377874|377887|377902|377907|377908|378159|378165|384524|403594|403637|403643|404125|404143|404148|410723|413493|415672|439254|442260|469306|469311|470260|470833|470835|471327|471329|471331|471333|471336|471338|507061|507067|507191|507192|508009|508016|533414|533415|533416|533442|533959|538490|571107|572825|572827|573425|573426|573428|573430|573431|573432|573434|575066|577829|577830|582313|620650|620651|648520|648521|648522|648523|648524|648525|653084|684855|684856|684858|684859|685466|685467|689162|689163|689164|689165|689166|689167|689169|689170|689171|689174|690233|694519|694520|694521|705334|731319|742205|772974|798760|848131|848132|848133|848134|848135|848136|848137|848138|848139|848140|848141|848142|848143|848144|848145|848146|848147|848148|848149|848150|848151|848152|848153|848154|848155|848156|848157|851836|852358|852359|852894|852994|882691|882695|882696|882697|882698|882699|882700|882701|882702|882703|882704|882705|882706|882707|882708|882709|882710|882711|882712|882713|882714|882715|882716|882717|882718|882719|882720|882721|882722|882723|882724|882725|882726|882727|882728|882964|882965|882966|882967|882968|882969|882970|929124|929125|929126|929127|929128|929129|938879|938880|938881|938882|938883|938884|938885|938886|938887|938888|938889|938890|938891|938892|938893|938894|950951|950952|950953|950954|950955|950956|950957|950958|950959|950960|950961|950962|950963|958758|958759|958760|958761|958762|958763|960304|960305|960306", + "text": "Hereditary spastic paraplegia 39" + }, + { + "baseId": "21646|106806|181590|181591|181592|243566|538490", + "text": "Trichomegaly-retina pigmentary degeneration-dwarfism syndrome" + }, + { + "baseId": "21646|181593|243566|538490", + "text": "Laurence-Moon syndrome" + }, + { + "baseId": "21646", + "text": "PNPLA6-related disorders" + }, + { + "baseId": "21647|21648|21649|21650|21651|21652|21653|21654|21655|176083|194388|230518|230519|230520|230521|230522|230523|230524|230525|237616|266218|266380|320412|320413|329160|329162|329166|329169|335768|335769|335773|337582|337583|337584|491561|513618|802077|871774|871775|871776|871777|871778|871779|871780|871781|871782|871783|871784|871785|871786|871787|871788|871789|871790|871791", + "text": "Deafness, autosomal dominant 9" + }, + { + "baseId": "21656|204349|204350|204351|204352|321265|321269|321271|321275|321276|321277|330470|330472|330473|330475|330476|330477|330479|336984|336985|336989|336996|337003|337005|337007|337015|338925|338930|338934|338935|338938|338940|338941|338946|338947|513623|620486|620487|620861|725791|784776|860122|872465|872466|872467|872468|872469|872470|872471|872472|872473|872474|872475|872476|872477|872478|872479|872480|872481|872482|872483|872484|872485|872486|872487|872488|872489|872490|872491|872492|872493|872494|872495|872496|872497|872498|872499|872500|872501|872502|872503|872504|872505|872506|872507|872508|872509|872510|872511|872512|872513|872514|872515|872516|872517|872518|872519|872520|872521|876438|876439|904110", + "text": "Methylmalonate semialdehyde dehydrogenase deficiency" + }, + { + "baseId": "21657|192358|252146|252150|273781|275516|299207|299214|299222|299224|299228|299230|299234|299235|301636|306038|306041|306043|306044|306045|306051|306052|306053|306066|306315|306316|306319|306322|306324|492855|619943|895479|895480|895481|895482|895483|895484|895485|895486|895487|895488|895489|895490|895491|895492|895493|895494|896200|961772", + "text": "Peroxisome biogenesis disorder 10A" + }, + { + "baseId": "21659|590481", + "text": "Choanal atresia and lymphedema" + }, + { + "baseId": "21660|22017|22089|27617|27621|28696|29000|29006|29008|29010|29020|31648|31652|31848|34064|38760|38762|48817|53966|53978|54386|54403|54438|54447|54449|54464|133516|174230|205383|205384|311469|359646|359799|362828|362829|363583|363619|552584|575761|575763|575766|575769|575773|575779|615885|790727|790728|790729|790730|790731|790732|790733|790734|790735|790736|790737|971294", + "text": "Lung carcinoma" + }, + { + "baseId": "21661|21662", + "text": "Anaphylotoxin inactivator deficiency" + }, + { + "baseId": "21663|21664|21665|21666|21667|21668|21669|21670|21671|133737|133739|207659|207660|253484|266583|307660|307661|307663|307664|307676|307685|307687|307689|307690|307694|307696|311906|311915|311924|311925|311932|311943|317485|317488|317498|317516|317517|317518|317521|317524|317544|317995|317996|318011|318012|318017|318018|318019|318024|318029|318031|318032|318039|359009|359010|359011|359012|359013|359014|359015|359016|359017|359018|359019|359027|361196|361197|380242|380246|492918|540478|540479|624154|723471|737029|788834|901548|901549|901550|901551|901552|901553|901554|901555|901556|901557|901558|901559|901560|901561|901562|901563|901564|901565|901566|901567|901568|901569|901570|901571|903355", + "text": "Congenital generalized lipodystrophy type 1" + }, + { + "baseId": "21676|21677|21678|21679|21680|39254|76395|76396|76400|193608|199799|254874|254876|254878|384627|384628|384629|384631|429512|463710|463965|508882|536082|553157|566185|642065|642066|688185|693399|702755|702756|739106|739110|799753|799754|820592|841014|919501|919502|919503|926952|926953|948421|948422|957141|957142", + "text": "Holoprosencephaly 5" + }, + { + "baseId": "21682|21683|227305|433842|433846|433847|433848|433852|433853|537511|609638|612432|612766|699713|722207|903547", + "text": "Bone fragility with contractures, arterial rupture, and deafness" + }, + { + "baseId": "21684|21685|21686|44138|167558|167559|167560|167561|215228|273666|283016|283023|283027|283028|283029|283033|283035|283044|283045|283046|283047|283052|283065|283070|283080|283081|283102|283109|283110|283118|283119|283120|283129|283130|283137|283138|283140|283142|283846|283848|283849|283850|283852|283854|283865|283869|283870|283876|283878|283879|285508|285512|285526|285527|285528|285531|285533|285552|285559|285561|285563|285569|285581|285584|285587|285588|285606|285617|285907|285909|285914|285930|285931|285936|285937|285939|285942|285965|285979|285980|285983|285984|286012|286013|286028|286046|549542|707864|732965|746964|746966|746967|762437|762440|762441|780976|799243|881660|881661|881662|881663|881664|881665|881666|881667|881668|881669|881670|881671|881672|881673|881674|881675|881676|881677|881678|881679|881680|881681|881682|881683|881684|881685|881686|881687|881688|881689|881690|881691|881692|881693|881694|881695|881696|881697|881698|882858|981348", + "text": "Rhizomelic chondrodysplasia punctata type 3" + }, + { + "baseId": "21687|21688|21689|21690|21691|21692|21693|21694|21695|21696|134274|134275|134276|193576|194940|207063|250984|250989|250991|250996|250998|264144|266173|271284|289150|289152|289157|289159|289160|289941|289943|289945|289948|289952|289955|289956|289958|289963|289964|293013|293014|293017|293019|293024|293026|293027|293030|293031|293033|293038|293420|293421|293422|293423|293426|293438|293466|293467|367241|440760|451892|451893|451895|451901|452111|452238|452240|452244|452252|452356|491846|518929|518933|518938|518946|519107|519109|519113|519131|519134|537420|538355|558828|558830|559359|559361|561222|561225|561227|562528|562530|590546|590547|590548|620113|620114|620756|623586|631001|631002|631003|631004|631005|631006|631007|631008|631009|631010|631011|631012|631013|631014|651062|651072|651153|691328|697901|697902|763708|790344|790345|802148|819340|819341|827632|827633|827634|827635|827636|827637|827638|827641|827642|888228|888229|888230|888231|888232|888233|888234|888235|888236|888237|888238|888239|888240|888241|891595|891596|923073|923074|923075|923076|923077|923078|923079|931805|931806|931807|939929|943377|943378|943379|943380|943381|953367|953368|953369|953370|953371|953372|959691|959692|964655|965876|965885|980408|980409", + "text": "Endplate acetylcholinesterase deficiency" + }, + { + "baseId": "21697|21698", + "text": "Legionellosis" + }, + { + "baseId": "21697", + "text": "Systemic lupus erythematosus, resistance to, 1" + }, + { + "baseId": "21697", + "text": "Melioidosis, resistance to" + }, + { + "baseId": "21699|21700", + "text": "TLR4 POLYMORPHISM" + }, + { + "baseId": "21701|49908|486804|486805|486808|486809", + "text": "Herpes simplex encephalitis 2" + }, + { + "baseId": "21702|980453", + "text": "Leprosy 3" + }, + { + "baseId": "21704|21706|21707|21710|21712|21713|21714|21714|21715|21718|21721|21724|100162|100191|100191|100205|100248|192910|213808|259743|259744|267122|268491|437659|443289|518525|542336|608904|672039|677130|822324|931561|961663|971805|971806|971807|971808|971809|971810|971811|971812|971813|971814|971815|971816|971817|971818|971819|971820|971821|971822|971823|971824|971825|971826|971827|971828|971829|971830|971831|971832|971833|971834|971835|971836|971837|971838|971839|971840|971841|971842", + "text": "Miyoshi muscular dystrophy 1" + }, + { + "baseId": "21705|21714|21715|100162|100186|100191|100205|100248|192910|213808|226470|259744|267122|268491|443289|492464|518525|542336|672039|802142|822324|931561|961663|971805|971806|971807|971808|971809|971810|971811|971812|971813|971814|971815|971816|971817|971818|971819|971820|971821|971822|971823|971824|971825|971826|971827|971828|971829|971830|971831|971832|971833|971834|971835|971836|971837|971838|971839|971840|971841|971842", + "text": "Myopathy, distal, with anterior tibial onset" + }, + { + "baseId": "21705|21706|21707|21708|21710|21713|21714|21715|21718|21723|21724|33482|80526|85580|100162|100163|100164|100165|100168|100169|100170|100175|100179|100180|100181|100182|100183|100185|100189|100190|100191|100193|100194|100199|100200|100201|100205|100207|100210|100211|100212|100214|100215|100216|100218|100220|100221|100222|100223|100225|100227|100228|100229|100230|100231|100232|100234|100235|100236|100241|100243|100244|100245|100247|100248|100250|100251|100252|100253|100254|100258|100261|100264|100265|100267|100269|134392|134393|134394|134395|134396|173671|176953|177084|177216|177347|177348|177683|177684|177687|177688|177691|192003|192650|192756|192757|192759|192838|192909|192910|193122|193183|193286|193336|193337|193785|193855|194056|194165|194222|194376|194378|194594|194624|194665|194682|194727|195128|195618|195655|195658|213540|213541|213806|213808|213810|213811|226470|250769|250770|250771|250775|250779|250780|250782|250783|250785|250787|250789|259744|264110|265251|265300|265304|265341|265474|265538|265592|265920|266191|266401|266446|266553|266647|266660|266750|266861|266936|266940|266942|267002|267122|267329|267443|267465|267696|267711|267724|267734|267861|268202|268214|268240|268491|268621|268724|268748|268817|269041|269053|269054|269059|269074|269111|269171|269290|269293|269298|269300|269360|269370|269380|269385|269389|269414|269437|269580|269593|269700|269814|269821|269880|269884|269923|269978|269987|270041|270050|270059|270180|270219|270220|270388|270414|270463|270680|270694|270705|270948|270966|270980|271053|271157|271412|271545|271554|271710|271711|272022|272048|272050|272053|272059|272180|272245|272326|272327|272419|272420|272535|272648|272649|272675|272730|272733|272814|272860|272861|272867|272885|273030|273087|273116|273126|273178|273213|273377|273481|273482|273708|273720|273796|273808|273998|274026|274152|274197|274200|274264|274332|274353|274380|274407|274415|274424|274494|274499|274591|274752|274894|274907|274939|274982|275068|275153|275299|275308|275346|275353|275360|275405|275545|287144|287148|287157|287158|287164|287169|287171|287172|287173|287877|287896|287898|287899|287900|287903|287904|287906|287911|287912|290424|290428|290429|290430|290443|290454|290461|290463|290470|290471|290719|290721|290727|290728|290742|290745|290746|290750|290759|290760|290761|290765|290767|357265|366899|366916|366918|366970|366972|366978|367778|367788|406010|413536|421401|437659|438144|440724|440727|443286|443288|443291|451389|451393|451397|451399|451400|451402|451405|451407|451409|451562|451563|451565|451567|451570|451572|451578|451580|451584|451586|451588|451590|451591|451595|451597|451606|451607|451612|451616|451619|451750|451753|451758|451760|451762|451765|451784|451785|451788|451791|451795|451816|451824|451828|488296|488403|488736|488918|489272|489770|489796|490043|490393|490407|490434|490446|490447|490471|490508|490615|490629|490651|491428|492042|492361|492460|492464|492710|492904|492978|492982|493240|493518|493519|493566|493635|493977|495156|496762|499889|500107|500108|500326|518514|518517|518519|518520|518521|518525|518526|518528|518531|518534|518535|518536|518539|518540|518541|518542|518543|518544|518548|518550|518597|518598|518599|518606|518610|518613|518615|518616|518658|518663|518666|518670|518673|518675|518680|518682|518685|518688|518689|518701|535273|542033|542115|542117|542153|542183|542198|542214|542217|542231|542254|542277|542283|542293|542328|542330|542387|542391|550588|558257|558259|558261|558263|558630|558632|558634|558636|558638|558640|560912|560915|560916|560919|560921|560922|560926|560928|560939|561890|561894|561907|561908|561909|561911|561915|561929|561931|561938|561942|576695|576697|585090|585256|586246|587069|587283|587878|587887|588190|588191|588611|588741|588744|589195|589621|610613|620092|620093|630418|630419|630420|630421|630422|630423|630424|630425|630426|630427|630428|630429|630430|630431|630432|630433|630434|630435|630436|630437|630438|630439|630440|630441|630442|630443|630444|630445|630446|630447|630448|630449|630450|630451|630452|630453|630454|630455|630456|630457|630458|630459|630460|630461|630462|630463|630464|630465|630466|630467|630468|650880|650882|650888|651003|651005|651008|655473|659299|691194|691195|691196|691197|691198|691200|691201|691202|691203|691204|695153|695156|695157|695158|695159|697640|697641|697642|697643|697644|697646|708348|708349|719952|730158|733548|733549|733550|733551|733554|743883|743960|747748|747749|747750|747754|747755|747756|747757|759071|759076|759144|763391|763394|763398|763399|763402|763405|763406|774740|774743|774775|774776|781433|781434|781437|781438|781439|781444|781445|787126|787228|819269|819270|819271|819272|826927|826928|826929|826930|826931|826932|826933|826934|826935|826936|826937|826938|826939|826940|826941|826942|826943|826944|826945|826946|826947|826948|826949|826950|826951|826952|826953|826954|826955|826956|826957|826958|826959|826960|826961|826962|826963|826964|826965|826966|826967|826968|826969|826970|850875|850877|850879|850881|850883|851208|851440|859188|885409|885410|885411|885412|885413|885414|885415|885416|885417|885418|885419|885420|885421|885422|885423|885424|885425|885426|885427|885428|885429|885430|885431|885432|885433|885434|885435|885436|887391|887392|887393|887394|887395|922901|922902|922903|922904|922905|922906|922907|922908|922909|922910|931558|931559|931560|931561|931562|931563|931564|931565|931566|939908|939909|939910|939911|940721|940722|940723|943088|943089|943090|943091|943092|943093|943094|943095|943096|943097|943098|943099|943100|943101|943102|943103|943104|943105|943106|943107|943108|943109|953180|953181|953182|953183|953184|953185|953186|953187|953188|953189|953190|953191|953192|953193|959654|959655|960490|966353", + "text": "Qualitative or quantitative defects of dysferlin" + }, + { + "baseId": 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+ "text": "Autosomal recessive limb-girdle muscular dystrophy type 2B" + }, + { + "baseId": "21706|100178|272053|274332", + "text": "DYSF-Related Disorders" + }, + { + "baseId": "21725|21726|21727|48241|48242|48243|48244|48245|205163|267233|267602|271833|491702|525489|525577|564850|566551|566552|639260|639261|701456|701457|712499|712500|779510|837409|919301|947116|956263", + "text": "Spondyloepimetaphyseal dysplasia, pakistani type" + }, + { + "baseId": 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+ "text": "Imerslund-Gr\u00e4sbeck syndrome" + }, + { + "baseId": 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+ "text": "Imerslund-Gr\u00e4sbeck syndrome 1" + }, + { + "baseId": "21730|21731|21733|21734|21736|21738|21739|21742|362070|590326", + "text": "Symphalangism, proximal, 1A" + }, + { + "baseId": "21730|21735|21736|362070|362070", + "text": "Tarsal-carpal coalition syndrome" + }, + { + "baseId": "21732|21740|21745|21746|39246|319166|319167|319210|327653|327662|327663|327688|333897|333898|333907|333929|333930|333940|333945|333973|335582|335592|335603|335621|335623|349927|362070|816042", + "text": "Symphalangism-brachydactyly syndrome" + }, + { + "baseId": "21741|21742|21747|362070", + "text": "Brachydactyly type B2" + }, + { + "baseId": "21742|21743|21744|362070|975714", + "text": "Stapes ankylosis with broad thumb and toes" + }, + { + "baseId": "21748|21749|21750|210617|210618|277942|626098|961418", + "text": "Mitochondrial complex 1 deficiency, nuclear type 6" + }, + { + "baseId": "21751|21752|21753|21754|21755|21756|21757|21758|49648|138096|138097|138100|138104|138105|138106|138108|138109|139283|186096|212670|240614|240617|240618|240619|240621|253535|308258|308262|308266|308268|308269|312654|318554|318555|318558|318560|318570|318572|319060|319067|319075|319076|319080|396876|429014|438666|563228|563967|569012|578476|611355|612190|638231|836096|901976|901977|901978|901979|901980|901981|901982|901983|901984|901985|901986|901987|901988|901989|901990|901991|901992|903401|917990|917991|917992|917993|917994|917995|917996|917997|917998|917999|918001|918002|918003|918005|918006|918007|918008|918009|918010|918011|918012|918013|918014|918015|918016|918017|918018|918019|918021|918023|918024|918025|918026|918027|918028|918029|961956", + "text": "Fanconi anemia, complementation group G" + }, + { + "baseId": "21751|21753|21754|21756|138096|138099|138100|138106|138108|138109|240614|240617|240618|240619|240621|253535|396874|396876|397463|438666|459458|460039|460042|563223|563965|638222|638226|638229|684097|684100|687493|689950|695438|836094|836098|978579", + "text": "Fanconi anemia group G" + }, + { + "baseId": "21760", + "text": "Ventricular septal defect 2" + }, + { + "baseId": "21761|21762|792601", + "text": "Atrial septal defect 8" + }, + { + "baseId": "21763", + "text": "FAAH POLYMORPHISM" + }, + { + "baseId": "21764", + "text": "Colorectal cancer 3" + }, + { + "baseId": "21765|21766|21767|21768|21769|21770|100016|100017|100018|132587|143047|143058|143059|168751|168752|168753|168754|189041|195318|196242|196242|202279|202287|202290|202297|202301|202320|202327|202328|202332|207613|264306|361912|362229|407533|407541|421698|428915|444351|458771|458775|481837|486612|488157|508833|513586|551300|552129|552130|552131|562736|581230|589818|611399|611714|613942|613943|790834|790835|790836|790837|790838|790839|790840|790841|798611|798612|800669|800915|801994|802049|802058|815840|858345|858346|858347|858591|859704|920585|961554|961612|962862|962869|964305|964306|964307|964308|964668|970408|970891|971377", + "text": "Early infantile epileptic encephalopathy 4" + }, + { + "baseId": 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+ "text": "Infantile epileptic dyskinetic encephalopathy" + }, + { + "baseId": "21769|168753|189041|195318|196242|202274|202282|202290|202297|202301|202306|202308|202311|202328|202332|259912|264301|264306|264460|369748|370220|372128|407533|407542|421588|444353|481837|495398|511783|536347|536759|961612|972835|972836|972849|972850|972945|972946|972947|972948|972949|972950|972951|972952|972953", + "text": "Infantile epilepsy syndrome" + }, + { + "baseId": "21771", + "text": "Glycerol release during exercise, defective" + }, + { + "baseId": "21772|21773|21774|21775|21776|21777|21778|21779|21780|21781|21782|21783|21784|335218|335220|335222|335228|335232|335240|335241|335243|335245|335250|335253|335256|335263|335271|335272|335273|345043|345044|345048|345049|345053|345056|345058|345060|345062|345066|345068|345075|345078|345086|345089|345091|345096|349857|349860|349861|349864|349865|349868|349870|349871|349872|349873|349879|349880|350872|350873|350876|350877|350880|350881|350884|350885|350888|350889|350892|350893|350896|350898|350899|410746|410747|446218|446219|470333|470335|470879|533486|533535|533540|533541|533542|533552|534058|575085|575086|575087|614473|648611|648612|648613|648614|648615|648616|648617|648620|648621|648623|648624|648626|648627|648628|648629|648630|653210|728599|742348|757446|757448|757452|760880|773069|788936|791978|800172|848287|848289|885982|885983|885984|885985|885986|885987|885988|885989|885990|885991|885992|885993|885994|885995|885996|885997|885998|885999|886000|886001|886002|886003|886004|886005|886006|886007|886008|886009|887450|887451|887452|887453", + "text": "Immunodeficiency-centromeric instability-facial anomalies syndrome 1" + }, + { + "baseId": "21773|243960|244090|609141|609142|672325|672326|672327|672328|672329|672330|672331|672332|729636|794150|794151|794152|794153|794154|798977|857360|980824|980825|980826|980827|980828|984051|984054|984055|984056|984058|984059|984060|984061", + "text": "Non-obstructive azoospermia" + }, + { + "baseId": "21785|79449", + "text": "Epileptic encephalopathy Lennox-Gastaut type" + }, + { + "baseId": "21786|513183|919845|965236", + "text": "Transposition of the great arteries, dextro-looped 3" + }, + { + "baseId": "21786|76323|513182", + "text": "Bilateral right-sidedness sequence" + }, + { + "baseId": "21786|141158|181174|213449|222804|468595|469512|469947|469948|469951|469952|469955|469964|469965|470559|470562|470566|470567|513183|532788|532791|532796|532798|532862|532864|532866|532868|533229|533236|570619|572291|572298|572303|574919|574920|622454|647851|647852|647853|647854|647855|647856|647857|647858|647859|695816|704866|756849|756852|772534|772536|786119|789800|789801|789802|847455|847456|847457|847458|847459|852325|928900|928901|928902|938621|938622|938623|940478|950722|950723|950724|958580|958581", + "text": "Epilepsy, progressive myoclonic 8" + }, + { + "baseId": "21788|70500|213449|222804|256844|256845|256846|259934|273238|280896|281031|290151|290162|290177|290178|290182|290211|290229|290231|290232|290955|290977|291011|291014|294038|294108|294180|294234|294266|294285|294286|294287|294288|294290|294576|294600|294624|315800|403213|403256|403257|403665|403706|468591|469493|469498|469505|470554|470557|532770|532771|532789|532858|532860|574918|647846|647847|647848|647849|647850|684784|847452|847453|847454|861285|950721|958579", + "text": "Heterotaxia" + }, + { + "baseId": "21789|21790|21791|168536|168538|168539|207277|207280|214162|428464|508807|788783", + "text": "Pseudo-TORCH syndrome 1" + }, + { + "baseId": "21793|21794|21795|21796|45341|45342|45343|45345|53747|54170|54171|54172|54173|54174|54175|54176|54177|54179|54180|54181|54182|54183|54185|54188|54190|54191|54192|54193|54195|54196|54197|54198|54199|54200|54202|54204|54205|54206|54207|54210|54214|54215|54216|54217|54218|54219|54220|54222|54223|54224|54227|54229|54230|54231|54232|54234|54235|54236|54237|54238|54239|54240|54241|54243|54244|54246|54247|54248|54250|54251|54252|54253|54254|54255|54256|54257|54259|54882|56311|56820|57054|89863|142394|142395|142396|142397|171150|171151|175721|175723|175724|175726|175728|175729|175730|175731|175861|175862|175863|175864|175866|175867|175869|175870|175871|177957|178655|186418|186421|186423|186425|186427|186430|186431|189909|189910|189911|193556|198383|198384|198385|198387|198389|198393|198398|198401|198402|198403|198406|198410|198414|198415|198416|198417|198418|198420|198421|198423|198425|198427|198430|198431|198433|198434|198436|198437|198438|198441|198442|198443|198445|198446|198448|198450|198451|198452|198454|198455|198458|222251|224448|230310|230312|230313|230314|230316|230317|230319|230320|230322|230323|241546|241547|241548|241549|241550|241551|248509|258751|260506|260508|260516|260528|260537|260539|260540|260542|260543|316928|316929|316934|316944|316945|316953|316954|324526|324551|324552|324554|324555|324556|324557|324563|324566|324569|324573|330718|330719|330727|330732|330743|330749|330750|330753|330767|330778|332116|332118|332121|332124|332128|332132|332141|332147|332167|332171|332175|361874|361875|372261|373007|373019|373215|373227|373229|373240|375083|390140|398511|398960|398962|398965|398966|398970|398978|398980|399126|399132|399138|399446|399448|399450|399453|399682|399684|399693|399694|399695|399698|399704|399705|399707|399709|399711|399712|408639|408642|408644|415332|425971|425973|437672|444980|444983|444988|461581|461784|462130|462133|462135|462137|462138|462139|462141|462386|462399|462402|462417|462424|462425|462430|462896|462901|462912|462913|462930|462931|462934|462937|463033|463039|463041|463043|463044|463048|482018|487338|487340|487343|487360|487365|497223|508872|508873|508874|508875|508876|510397|510398|510404|512854|512855|512931|512932|522209|522217|527107|527109|527114|527116|527117|527121|527124|527152|527154|527156|527369|527385|527386|527392|527393|527396|527400|527406|527612|527613|527616|565010|565428|565429|565434|565436|565438|565443|566286|566812|566814|566816|566823|566824|566827|567635|568001|568004|568005|568008|568010|568014|568020|568021|571154|571793|571809|571815|571818|571820|571822|571823|571826|571829|615047|615049|617900|617901|617904|617909|641079|641080|641081|641082|641083|641084|641085|641086|641087|641088|641089|641090|641091|641092|641093|641094|641095|641096|641097|641098|641099|641100|641101|641102|641103|652241|652381|652486|652645|676917|685379|687982|687983|687984|687985|695563|702297|738619|769098|784374|820494|820495|820496|820497|820498|820499|820500|820501|820502|839860|839861|839862|839863|839864|839865|839866|839867|839868|839869|839870|839871|839872|839873|839874|839875|839876|839877|839878|839879|869727|869728|869729|869730|869731|869732|869733|869734|869735|869736|869737|869738|869739|869740|872231|872232|911929|911931|911938|911947|911989|912006|912029|912034|912047|912060|912067|912076|919427|926611|926612|926613|926614|936095|936096|936097|936098|936099|936100|936101|936102|936103|936104|936105|936106|936107|936108|940264|940265|940266|947991|947992|947993|947994|947995|947996|947997|947998|947999|948000|956857|956858|956859|956860|956861|956862|960039|960040|960041|967197|967198|981791", + "text": "Arrhythmogenic right ventricular dysplasia 9" + }, + { + "baseId": "21796|54194", + "text": "Arrhythmogenic ventricular cardiomyopathy" + }, + { + "baseId": "21796|176520|445196|569611|679869|858256", + "text": "Aborted sudden cardiac death" + }, + { + "baseId": "21797|21800|21801|21803|21804|21805|137503|137504|137506|137508|137511|137514|137516|137518|137521|226807|226808|242039|242040|242041|242042|255162|255166|255169|255170|400075|400082|400083|400084|400086|400090|400238|400242|400244|400250|400251|400563|400565|400570|400574|400578|400894|400896|400901|425300|429646|464178|464182|464183|464190|464191|464195|464202|464723|464726|464732|464734|464739|464740|464744|464745|464982|464987|464990|464994|464996|464997|465000|465001|465002|528731|528736|528742|528747|528761|528763|528804|528806|528809|528811|528816|529118|529125|529126|529130|529146|529147|529267|529268|529269|529272|529281|529282|529285|566996|567005|567007|568715|568717|568722|568730|568731|568736|568737|568738|568739|569202|569331|569332|569334|569337|569338|569346|569349|573222|573224|643127|643128|643129|643130|643131|643132|643133|643134|643135|643136|643137|643138|643139|643140|643141|643142|643143|643144|643145|643146|643147|643148|643149|643150|643151|643152|643153|643154|643155|652558|652728|688403|688404|688406|688410|688413|688414|690097|690098|693665|693666|693668|695638|695639|703149|703150|760157|778241|784900|784901|820690|842248|842249|842250|842251|842252|842253|842254|842255|842256|842257|842258|842259|842260|842261|842262|842263|842264|842265|842266|842267|842268|842269|842270|842271|842272|842273|842274|842275|842276|842277|842278|842279|842280|851607|851609|852035|927301|927302|927303|927304|927305|927306|927307|927308|936901|936902|936903|936904|936905|936906|936907|936908|936909|936910|936911|936912|936913|940326|941084|941085|948859|948860|948861|948862|948863|948864|948865|948866|948867|948868|957401|957402|957403|957404|960107", + "text": "Mosaic variegated aneuploidy syndrome" + }, + { + "baseId": "21797|21799|21800|21801|21802|21803|21804|21805|21806|21807|21808|39235|39648|137506|137516|137518|242041|242043|242044|400081|400088|400254|400579|400886|400891|400896|400898|429646|432425|528761|529267|791441|791442|791443", + "text": "Mosaic variegated aneuploidy syndrome 1" + }, + { + "baseId": "21799|21800|21801|21802|21803|21804|21805|21806|21807|21808|39235|137506|137516|137518|242041|400896|528761|529267", + "text": "Premature chromatid separation trait" + }, + { + "baseId": "21809|21811|21812|21813|21814|135329|135330|172123|172124|172125|172126|172126|194546|194546|194547|195048|249840|249841|249842|249843|249844|263985|268099|268558|271095|273980|280132|280133|280134|280137|280463|280466|280467|280469|280471|280473|280474|280479|280483|280485|280485|280503|281775|281776|281778|281780|281791|281804|281804|281805|281806|281810|281811|281812|281812|281924|281926|281935|281936|281940|281940|357074|489206|490261|491457|541019|541021|541033|541038|541040|541041|541123|541124|541126|541129|541140|541142|541143|541147|541149|541153|541156|541158|541160|541162|541164|541166|541171|541173|541178|541180|541183|549520|549522|589696|619995|696619|718838|823760|864157|864158|864159|864160|864161|864162|864163|864164|864165|864166|864167|864168|864169|864170|864171|864172|864173|864174|864175|864176|865165|865166|918623|962911", + "text": "Peroxisome biogenesis disorder 6A" + }, + { + "baseId": "21809|21811|21813|172123|172124|172126|193749|194546|194547|195048|237148|249842|249843|268099|271095|273428|273980|280137|280483|280503|281791|281806|281810|281811|281812|489037|489206|489447|489532|490252|490261|490945|491457|492175|541021|541123|541160|549520|549522|585867|585868|589696|589789|696619|707248|718835|718838|746350|746353|746356|761802|761803|761804|774478|818947|818948|823757|823758|823759|823760|823761|823762|823763|823764|823765|823766|851291|864168|921941|921942|930418|930419|930420|941862|941863|941864|941865|941866|952354|952355|952356|952357|952358", + "text": "Peroxisome biogenesis disorder, complementation group 7" + }, + { + "baseId": "21809|21810|21811|21811|21813|172122|172123|172123|172124|172124|172125|172125|172126|172126|194546|263985|280485|281791|281804|281812|281940|357074|442785|541019|541021|541033|541038|541040|541041|541123|541124|541126|541129|541140|541142|541143|541147|541149|541153|541156|541158|541160|541162|541164|541166|541171|541173|541178|541180|541183|858729", + "text": "Peroxisome biogenesis disorder 6B" + }, + { + "baseId": "21809|21813|22556|28743|98687|98689|98690|98692|98693|98694|98696|98698|98745|99009|99015|99019|99021|135330|143213|177104|177929|186748|186749|186751|186754|186755|186758|190969|192238|194546|194547|214063|226048|249842|249843|252357|252359|252360|252362|252975|252976|252977|253177|266955|267046|268099|268900|269776|270590|270884|271095|271283|271736|271739|272493|272943|273434|274209|275181|280503|281791|281806|281810|303601|307373|307376|307381|307593|311974|315355|357588|357593|357597|357610|357615|357627|415115|438678|439298|439318|442785|489037|489369|489370|489384|489389|489456|489532|489595|489836|490252|490945|491365|491457|492065|493841|494170|495238|523378|544083|544355|544619|544684|544697|544713|544760|549520|549522|549610|561811|561815|584201|585811|585868|587344|587837|587950|588430|634934|636448|637406|696619|711640|718838|722721|722723|723187|735667|735669|736326|736327|736329|746350|746352|746353|746356|750076|761800|765687|766456|766457|766462|766892|774478|775422|823757|823758|823760|831971|831972|831973|831976|831977|831979|833935|833941|833943|833945|835054|835055|851291|898505|917462|924934|934028|934029|934030|934031|934032|934033|940088|940089|945788|945789|945790|945791|945792|945793|945794|955243|955244|955245|955246|955247|955248|955249|955250|955251|955252|955253|955254|959870|959871|977527|977528|977529|977530|978219|978220|978221|978222|978402|978403|978404|978405|978406|978477|978478", + "text": "Zellweger syndrome" + }, + { + "baseId": "21815|21816|21817|21818|21819|21820|21821|21822|21823|21824|21825|21826|21827|21828|21829|21830|21831|21833|21834|34124|34125|34126|34127|34128|34129|39234|99609|99610|99611|99612|99613|99614|99615|99616|99617|99618|99619|99620|99621|99622|99623|99624|99626|99627|99628|99629|177006|177453|177669|177670|177671|186840|186841|186842|186843|186844|194354|194886|194887|195292|195624|195932|195933|196225|245365|246241|254316|254317|260004|264564|265726|266505|268764|269745|270522|271600|272018|272430|273390|273738|274277|274816|315065|315066|315071|315072|315073|315075|315078|315079|315087|321891|321896|321897|321900|321903|321905|327941|327942|327946|327948|327949|327951|327952|327956|327963|327965|327970|327973|327984|329055|329056|329066|329068|329072|329073|329077|329078|329086|329090|329091|358065|358066|358067|358068|358069|358070|358071|358072|358073|358074|358075|358076|358077|358078|358079|371677|372666|384408|384409|408465|408466|421885|425943|433097|433098|438709|444884|461667|461979|481360|491417|492188|492787|493274|493276|504008|511941|511942|511943|527046|546305|546307|546315|546316|546320|546322|546324|546328|546329|546339|546343|546347|546357|546365|546367|546375|546379|546541|546545|546548|546550|546556|546558|546565|546567|546572|546580|546581|546586|546593|546678|546679|546680|546682|546683|546685|546706|546714|546717|546719|546953|546957|546958|546970|546972|546977|546979|546981|546984|546987|546990|546992|547001|579746|579753|580025|585825|586046|586149|586195|587912|609813|612484|620418|621366|621367|640438|640439|640440|652592|682818|687823|693110|693111|693112|693113|693114|695541|701965|701966|701967|701968|713125|724695|724696|724697|738262|768741|768742|768745|775783|784170|784172|799659|801702|801703|801704|801705|801706|801707|801708|801709|801710|820413|820414|820415|838974|838975|838976|838977|838978|838979|838980|838981|838982|838983|868738|868739|868740|868741|868742|868743|868744|868745|868746|868747|868748|868749|868750|868751|868752|868753|868754|868755|872134|917094|926381|935772|956656|960013|970537|970538|972111|972112|972113|972114|979139|979140|979141|979142|979143|979144|979145|979146|979147|981754|981755", + "text": "Smith-Lemli-Opitz syndrome" + }, + { + "baseId": "21836|21837|55471|55476|55477|55483|55485|55503|55513|55548|55571|106479|168546|168547|168555|168557|174306|174455|194148|195465|195827|229338|229349|229357|267749|269624|275060|275062|363866|415013|433350|495293|496403|496405|537464|589833|589834|589835", + "text": "Febrile seizures, familial, 4" + }, + { + "baseId": "21845|21846|21847|21848|45788|45789|45790|45791|45792|90045|171817|191224|213000|222254|222255|222256|241565|241566|241567|271562|318107|318110|318113|318115|318116|318117|318122|318126|326104|326106|326119|326120|326121|326123|326124|326134|326135|326136|326141|332266|332269|332270|332273|332277|333824|333831|333832|333843|333845|333846|333855|375383|399029|424371|504582|622416|641315|688034|870210|870211|870212|870213|870214|870215|870216|870217|870218|870219|870220|870221|870222|870223|870224|872274|872275|872276|872277|872278|872279|872280|962052|962981", + "text": "Hereditary spastic paraplegia 10" + }, + { + "baseId": 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+ "text": "Hereditary spastic paraplegia 7" + }, + { + "baseId": "21855|540454|540462", + "text": "Proximal spinal muscular atrophy" + }, + { + "baseId": "21860|49102|49103|49105|49107|49108|142807|142808|142810|142812|142813|174881|179140|179141|179142|179144|179148|221939|240748|309510|309511|309513|309515|314301|314305|314306|314307|314309|314312|314313|314315|314317|320243|320262|320263|320265|320266|320267|320712|320713|320724|320726|320730|320731|320732|320733|320740|320741|320742|320743|371571|487399|865432|865433|865434|865435|865436|865437|865438|865439|865440|865441|865442|865443|865444|868444|962146|964339", + "text": "Noonan syndrome-like disorder with loose anagen hair 1" + }, + { + "baseId": 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+ "text": "Rasopathy" + }, + { + "baseId": 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+ "text": "Noonan syndrome" + }, + { + "baseId": "21860", + "text": "Noonan syndrome-like disorder with loose anagen hair" + }, + { + "baseId": 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0|958211|958212", + "text": "Fanconi anemia, complementation group O" + }, + { + "baseId": "21863|21864|21864|40236|40237|133658|133658|133659|133659|133660|133662|133663|133664|133666|133666|133667|133667|133668|133668|136450|136469|139868|139868|139869|139874|142570|142572|142573|150513|150563|150627|150654|150919|151038|151246|151482|151482|151537|151800|151868|152167|152248|152476|152554|152554|152633|180903|180903|180908|180909|180912|180917|180917|185137|185139|185140|185147|185149|185150|185157|185160|185166|185168|185173|185182|186265|213341|213350|213352|213353|222692|236229|236233|236240|242836|242838|358950|358951|358952|358953|376262|376387|378546|402613|402623|410106|410106|418813|467076|479002|485192|485425|487902|539369|539370|539371|877959|962062|964691|970154|971086", + "text": "Breast-ovarian cancer, familial 3" + }, + { + "baseId": "21865|21866|361961", + "text": "46,XY sex reversal, type 5" + }, + { + "baseId": "21867|21868|21869|21870|21871|21872|21873|21874|49800|49801|49802|49803|257118|257120|257121|257122|257124|257125|257126|269520|271078|273929|343596|343598|343599|348886|348887|348888|348892|348894|348895|349840|349841|349842|377459|377467|446129|489138|490564|493096|506734|550639|584444|716437|728175|757014|772687|800134|800135|800136|800137|800138|800139|882012|882013|882014|882015|882016|882017|882018|882019|882020|882021|882022|882023|882024|882025|882026|882027|882028|882029|882030|882031|882032|882033|882034|882035|882036|882037|882886|882887|882888|982183|982184|982185", + "text": "Spondylocostal dysostosis 1, autosomal recessive" + }, + { + "baseId": "21867|49802|513006|626275|971133", + "text": "Leukodystrophy and acquired microcephaly with or without dystonia" + }, + { + "baseId": "21871|620639|620640", + "text": "DLL3-Related Disorders" + }, + { + "baseId": "21875|102652|108186|626217", + "text": "Ectodermal dysplasia, 'pure' hair-nail type" + }, + { + "baseId": "21876|22540|22541|22648|22649|22650|22651|22652|22653|77443|317734|317735|317737|317739|317743|317751|317752|317759|317761|317769|317770|317773|317774|317779|325606|325607|325615|325618|325628|325645|325658|325660|325663|325664|325665|325671|325672|325673|325677|325680|325681|331857|331858|331860|331865|331866|331867|331869|331874|331881|331883|331886|331892|331900|331903|333345|333358|333362|333363|333364|333366|333367|333368|333373|333383|333391|333400|333406|333411|333422|333426|439458|552164|870085|870086|870087|870088|870089|870090|870091|870092|870093|870094|870095|870096|870097|870098|870099|870100|870101", + "text": "Beaded hair" + }, + { + "baseId": "21877|21878|21879", + "text": "Fibrosis of extraocular muscles, congenital, 2" + }, + { + "baseId": "21880|21881|21882|21883|21884|44134|44135|44136|44137|206769|206770|249766|249767|249768|249769|279455|279456|279459|279460|279463|279465|279474|279476|279480|279484|279486|279487|279492|279732|279735|279737|279738|279739|279748|279749|279758|279760|281000|281012|281013|281024|281025|281026|281033|281034|281035|281059|281066|281161|281162|281163|281170|281173|498296|498407|498463|578380|654202|679852|718785|732261|863860|863861|863862|863863|863864|863865|863866|863867|863868|863869|863870|863871|863872|863873|863874|865135|981312", + "text": "Rhizomelic chondrodysplasia punctata type 2" + }, + { + "baseId": "21885|21886|21887|21888|21889|21892|21893|21894|21895|45357|45358|54849|54851|54852|54853|54854|54857|54862|54864|54867|54871|54874|54875|54876|54878|54882|54882|54886|54888|54892|54898|174047|179122|179133|224349|229564|252655|302196|302212|302215|302216|302224|305396|305405|305406|305426|305434|305440|305443|305444|305445|305447|310221|310227|310228|310229|310234|310323|310325|310327|310328|310329|310346|310347|310357|369358|432490|456504|456900|457592|509882|511090|622378|897682|897683|897684|897685|897686|897687|897688|897689|897690|897691|897692|897693|897694|897695|897696|897697|897698|897699|897700", + "text": "Familial hypertrophic cardiomyopathy 6" + }, + { + "baseId": "21885|21891|21892|21893|21895|45357|45358|45359|54851|54852|54853|54857|54858|54859|54861|54862|54864|54865|54866|54867|54868|54869|54870|54871|54874|54875|54876|54877|54878|54879|54880|54881|54882|54882|54883|54886|54887|54889|54890|54891|54892|54894|54895|54898|54903|87691|174048|174049|174051|174052|174053|174182|174186|177380|179111|179116|179120|179124|179129|179134|179135|179136|179137|181278|224348|229561|229564|229567|240006|240007|240008|240010|240011|240012|240013|252651|302201|302204|302207|302210|302214|302217|302218|302225|305395|305441|305443|305444|305446|305448|305449|305452|310209|310230|310322|310359|360891|369063|369070|369358|369637|371031|395502|395719|395728|395880|395890|395892|395895|396204|456500|456501|456504|456897|456900|457130|457132|457134|457592|487213|501965|502008|509882|511089|511090|521882|522489|522496|522498|522501|522717|522724|522727|522730|522733|522737|522805|522808|522810|523150|523155|523157|523159|561412|561419|561742|561755|564175|564178|566596|566597|566602|566603|566617|617362|635933|635934|635935|635936|635937|635938|635939|635940|635941|635942|635943|651596|651674|651713|655790|683864|683865|687004|687005|687006|687007|759526|775369|782824|819767|819768|833365|833366|833367|833368|833369|833370|833371|833372|833373|833374|833375|833376|851634|897698|910831|910880|924766|924767|924768|933787|933788|933789|933790|933791|933792|933793|933794|940874|945532|945533|945534|945535|955099", + "text": "Glycogen storage disease of heart, lethal congenital" + }, + { + "baseId": "21890", + "text": "Wolff-Parkinson-White syndrome, childhood-onset" + }, + { + "baseId": "21896", + "text": "ALDH9A1*2 POLYMORPHISM" + }, + { + "baseId": "21897|21898|139993|139994|239192|239193|251100|251101|251102|251104|290147|290148|290149|290153|290155|290156|290157|290160|290168|290173|290176|290184|290185|290186|290193|290197|290198|290200|290201|290203|290208|290212|290215|290217|290225|290228|290233|290928|290931|290932|290933|290940|290943|290945|290948|290949|290957|290959|290960|290961|290963|290967|290970|290974|290975|290976|290985|290997|290998|290999|291000|291005|291006|291007|291009|291012|291015|291020|291023|294026|294027|294028|294029|294040|294046|294052|294053|294060|294066|294088|294089|294100|294104|294110|294168|294169|294170|294199|294201|294205|294215|294217|294235|294237|294239|294246|294248|294255|294258|294274|294276|294282|294284|294292|294555|294559|294563|294567|294573|294574|294575|294586|294587|294588|294597|294625|294626|294661|294662|294665|294670|294671|294672|294675|294676|294677|294681|294684|294690|294692|294694|294698|393944|452690|536043|536044|559455|561442|561446|631268|631269|631270|683572|763849|819397|827981|851043|888751|888752|888753|888754|888755|888756|888757|888758|888759|888760|888761|888762|888763|888764|888765|888766|888767|888768|888769|888770|888771|888772|888773|888774|888775|888776|888777|888778|888779|888780|888781|888782|888783|888784|888785|888786|888787|888788|888789|888790|888791|888792|888793|888794|888795|888796|888797|888798|888799|888800|888801|888802|888803|888804|888805|888806|888807|888808|888809|888810|888811|888812|888813|888814|888815|888816|888817|888818|888819|888820|888821|888822|888823|888824|888825|888826|888827|888828|888829|888830|888831|888832|888833|888834|888835|888836|891638|923158", + "text": "Heterotaxy, visceral, 4, autosomal" + }, + { + "baseId": "21899|21900|21901|21902|21904|71503|76542|76543|481239|536017|536182|576355|614411|798694|815881", + "text": "Autosomal recessive osteopetrosis 4" + }, + { + "baseId": "21902|21903|71503|432314|614411|857325", + "text": "Autosomal dominant osteopetrosis 2" + }, + { + "baseId": "21911|71095|71146|178740|178742|178744|178745|195679|227404|256857|256860|256861|256864|256865|256867|256868|256869|256870|256871|256872|256873|256874|256875|256878|256879|256880|256882|256883|256885|266609|274359|274817|333154|333158|333161|333167|333168|333170|333178|333184|333186|333189|343255|343256|343261|343265|343267|343271|343274|343277|343280|343281|343291|343294|343299|348596|348601|348603|348604|348605|348612|348614|348618|348619|348620|349673|349675|349676|349677|349680|349682|349684|349685|349689|349691|349694|376402|442195|549351|728133|728134|728136|728137|731272|731273|741813|741816|741820|756935|772603|772613|772617|786153|801193|801251|880314|880315|880316|880317|880318|880319|880320|880321|880322|880323|880324|880325|880326|880327|880328|880329|880330|880331|880332|880333|880334|880335|880336|880337|880338|880339|880340|880341|880342|880343|880344|880345|880346|880347|880348|880349|880350|880351|880352|880353|880730|880731|880732|880733", + "text": "Congenital nephrotic syndrome" + }, + { + "baseId": "21915|21916|21917|21918|187665|193527|253107|253108|305231|305236|305237|305240|305241|305242|305246|309032|309051|309052|309053|309054|314239|314242|314244|314247|314248|314251|314252|314253|314254|314259|314269|314277|314278|369941|700586|736643|751132|834750|834753|834754|899513|899514|899515|899516|899517|899518|899519|899520|899521|899522|899523|899524|899525|899526|899527|899528|899529|899530|899531|899532|899533|899534|900488|900489|900490|900491|900492|903555", + "text": "Cone-rod dystrophy 9" + }, + { + "baseId": "21919|21921|21922|21923|21924|21925|39232|99638|99640|99642|99647|99648|137774|137778|137779|137780|137782|137785|137788|137795|137796|137804|141323|169822|169823|169824|169825|169826|169826|169829|169830|169831|169832|169834|169834|169835|169836|181577|191007|191199|192635|193836|193839|195293|205026|208797|208799|208800|208801|226604|227707|236858|245212|247753|247754|247755|247756|247757|247757|259242|265631|271024|271309|338245|338250|338256|338271|338276|347905|347913|347927|347955|351664|351674|351691|351692|352602|352602|360506|362398|379858|379858|380144|384415|431927|431928|431929|431929|432225|434511|434513|470316|470318|492538|493637|493638|534326|534478|534841|550374|550646|552232|572013|572016|572017|572022|573419|574141|574142|574143|649528|649529|649530|653288|653900|654141|677319|677464|705951|705953|705956|717474|729208|729209|729218|731426|731427|742927|742935|742936|773567|773568|773569|778625|800410|805121|815824|815825|815826|815827|815828|815829|815830|815831|815832|815833|815834|815835|821465|821466|849375|849376|849377|849378|904252|929496|941282|959101|960349|963188|964555|966019|966047|971162|971163|971164|975872|975873|983307", + "text": "Rubinstein-Taybi syndrome 2" + }, + { + "baseId": "21931|21932|21932|21933|21934|21934|21935|21935|21935|21936|21936|21937|21937|21938|21939|21939|21940|21940|21941|21942|21942|21943|21944|21945|21945|21946|21947|21947|21948|21948|21949|21950|21951|21951|21952|21952|21953|21954|21956|21957|50216|53817|138935|138936|138937|138938|151782|165952|165953|171127|183477|183479|183481|207813|215422|215422|234436|234438|234440|234441|240898|241038|241039|241041|241042|241043|241044|241045|241046|241047|241049|241049|241050|241051|241052|241053|264583|318274|318276|324403|371258|398005|398008|398009|398013|398014|398017|398019|398027|398031|398033|398034|398040|398045|398062|398065|398066|398068|398070|398388|398389|398391|398394|398395|398505|398506|398507|408270|408271|413896|420756|425903|432045|432047|432050|432051|460872|460874|460875|460876|460880|460881|460883|460886|460894|461175|461177|461179|461180|461185|461190|461193|461195|461204|461206|461657|461661|461662|461664|461670|461672|461675|461679|461681|475955|475956|475993|475995|476243|476249|476426|476431|476436|476439|476439|525849|525882|525883|525887|525890|525898|525978|526071|526072|526074|526398|526400|526408|526411|537875|537876|564091|564393|564396|564402|564409|564411|564417|564418|564427|564429|565003|565487|565489|565490|565492|565493|565494|565505|565505|566722|567041|567048|567049|569941|570295|570304|589823|609782|639692|639693|639694|639695|639696|639697|639698|639699|639700|639701|639702|639703|639704|639705|639706|639707|639708|639709|639710|639711|639712|639713|652097|652154|652305|652483|684224|768201|768204|810758|810761|810765|820331|820332|820333|820334|820335|820426|837948|837949|837950|837951|837952|837953|837954|837955|837956|837957|837958|837959|837960|851421|852603|867045|868604|926117|926118|926119|926120|926121|926122|926123|926124|935377|935378|935379|935380|935381|940203|947302|947303|947304|947305|947306|956377|956378|956379|959974|960744", + "text": "Paragangliomas 1" + }, + { + "baseId": "21932|21934|21934|21935|21935|21936|21937|21939|21940|21942|21943|21945|21947|21948|21948|21950|21951|21952|21954|21956|21956|21957|22283|27817|27829|27830|27831|38851|50216|53808|53811|53817|138931|138932|138935|138936|138937|138938|151782|152351|152478|165952|165953|171127|172492|181623|181623|181624|181627|181628|183477|183479|183481|207813|215422|221085|232175|234436|234438|234440|234441|238164|238181|238187|238190|241038|241039|241041|241042|241043|241044|241045|241046|241047|241049|241049|241050|241051|241052|241053|249531|264583|277358|277363|277365|277555|277557|278406|278420|278421|278427|278435|318274|318276|324403|358701|371258|390894|390899|390914|390919|398005|398008|398009|398013|398014|398017|398019|398027|398033|398040|398045|398062|398065|398066|398068|398070|398388|398389|398391|398394|398395|398505|398506|398507|408270|408271|420756|425903|432045|432047|432050|432051|447529|460872|460874|460875|460876|460880|460881|460883|460886|460894|461175|461177|461179|461180|461185|461190|461193|461195|461204|461206|461657|461661|461662|461664|461670|461672|461675|461679|461681|472339|475955|475956|475993|475995|476243|476249|476426|476431|476436|476439|525849|525882|525883|525887|525890|525898|525978|526071|526072|526074|526398|526400|526408|526411|564091|564393|564396|564402|564409|564411|564417|564418|564427|564429|565003|565487|565489|565490|565492|565493|565494|565505|565505|566722|567041|567048|567049|569941|570295|570304|609782|639692|639693|639694|639695|639696|639697|639698|639699|639700|639701|639702|639703|639704|639705|639706|639707|639708|639709|639710|639711|639712|639713|652097|652154|652305|652483|684224|768201|768204|810758|810761|810765|820331|820332|820333|820334|820335|820426|837948|837949|837950|837951|837952|837953|837954|837955|837956|837957|837958|837959|837960|851421|852603|865032|867045|868604|926117|926118|926119|926120|926121|926122|926123|926124|935377|935378|935379|935380|935381|940203|947302|947303|947304|947305|947306|956377|956378|956379|959974|960744", + "text": "Carney-Stratakis syndrome" + }, + { + "baseId": "21932|21934|21934|21935|21936|21937|21940|21942|21943|21945|21947|21948|21951|21952|21954|21956|21957|53817|138935|138936|138937|151782|165952|165953|171127|183477|183479|183481|207813|215422|234436|234438|234441|241039|241044|241046|241047|241049|241051|241052|241053|324403|371258|398005|398008|398009|398013|398014|398019|398027|398033|398040|398045|398062|398065|398066|398070|398388|398389|398391|398394|398395|398505|398506|398507|408270|408271|420756|425903|432045|432047|432050|460872|460874|460875|460876|460880|460881|460886|460894|461175|461177|461179|461190|461193|461195|461204|461206|461657|461661|461662|461670|461675|461679|461681|475955|475956|475993|475995|476243|476249|476426|476431|476436|476439|525849|525882|525887|525898|526071|526072|526074|526400|526408|564091|564393|564396|564402|564409|564411|564417|564427|564429|565003|565487|565489|565490|565492|565494|565505|566722|567041|567048|567049|569941|570295|570304|639692|639694|639696|639698|639700|639701|639702|639703|639704|639705|639706|639707|639708|639709|639710|639712|639713|652097|652154|652305|652483|684224|768201|768204|810765|820331|820332|820333|820334|820335|820426|837948|837949|837950|837951|837952|837953|837954|837955|837956|837957|837958|837959|837960|851421|852603", + "text": "Cowden syndrome 3" + }, + { + "baseId": "21935|21943", + "text": "Paragangliomas 1 with sensorineural hearing loss" + }, + { + "baseId": 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+ "text": "Mitochondrial complex II deficiency" + }, + { + "baseId": 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+ "text": "Cowden syndrome" + }, + { + "baseId": "21948", + "text": "Carcinoid tumor of intestine" + }, + { + "baseId": "21950", + "text": "Carotid body paraganglioma" + }, + { + "baseId": "21958", + "text": "Lymphoma, somatic" + }, + { + "baseId": 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+ "text": "Glucose-6-phosphate transport defect" + }, + { + "baseId": "21964|21965|21966|21967|21968|21973|211495|788846|816318", + "text": "Phosphate transport defect" + }, + { + "baseId": "21967|79181|142889|142890|142898|211496|269769|312550|312552|312554|312555|312556|318519|318535|318538|318539|318540|318543|318547|324615|324617|324620|324631|324632|324638|324642|324643|325352|325353|325367|325369|325384|325389|325405|325408|328602|338546|344627|346020|346037|371269|425908|570368|867110|867111|867112|867113|867114|867115|867116|867117|867118|867119|868609", + "text": "Glycogen storage disease, type I" + }, + { + "baseId": "21976", + "text": "ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES" + }, + { + "baseId": "21976|21978", + "text": "Cataract 11, posterior polar" + }, + { + "baseId": "21977|459553|459568|459812|564449|638655", + "text": "Cataract 11" + }, + { + "baseId": "21978", + "text": "Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities" + }, + { + "baseId": 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+ "text": "Microcephaly, normal intelligence and immunodeficiency" + }, + { + "baseId": 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1|855762|855763|855764|855765|855766|855767|855768|855769|855770|855771|855772|855773|855774|855775|855776|855777|855778|855779|855780|855781|855782|855783|855784|855785|855786|855787|855788|855789|855790|855791|855792|855793|855794|855795|855796|855797|855798|855799|855800|855801|855802|855803|855804|855805|855806|855807|855808|855809|855810|855811|855812|855813|855814|855815|855816|855817|855818|855819|855820|855821|855822|855823|855824|855825|855826|855827|855828|855829|855830|855831|855832|855833|855834|855835|855836|855837|855838|855839|855840|855841|855842|855843|855844|855845|855846|855847|855848|858797|858809|858811|860950|861036|877636|877637|877638|877639|877640|877641|877642|877643|877644|880525|880526|903619|903620|964481|969598|971077|971078|971628|972480|972481|972482|972483|972484|976701|977410", + "text": "Breast-ovarian cancer, familial 1" + }, + { + "baseId": "21979|181404|205017|429431|432212|514176|514178|577997", + "text": "Lissencephaly" + }, + { + "baseId": "21985|29927", + "text": "Leukemia, acute lymphoblastic, susceptibility to" + }, + { + "baseId": "21985|31311|31315|31317|132522|132527|133309|133320|133322|133328|133329|133330|133331|150860|152273|180277|180279|180298|182874|182897|188057|188069|188070|214777|221794|226498|226502|233702|357674|458623|458714|474812|578477|613429|614326", + "text": "Acute lymphoid leukemia" + }, + { + "baseId": 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+ "text": "Deafness, autosomal recessive 3" + }, + { + "baseId": "21995", + "text": "Deafness, with smith-magenis syndrome" + }, + { + "baseId": "22002|22003|22004|22005|22006|169307|169309|217278|217279|217280|217281|226603|609009", + "text": "Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement" + }, + { + "baseId": "22006|39228|39230|39231|169306|169307|169309|169309|169310|169311|169312|237806|260145|263006|361225|377988|432220|626163|919692|963822", + "text": "Cortical dysplasia, complex, with other brain malformations 1" + }, + { + "baseId": "22006", + "text": "TUBB3-Releated Disorders" + }, + { + "baseId": "22007|22008|22009|22010|22011|193510|194906|205369|205370|253027|253028|253029|253030|265664|269519|304088|304092|304093|304097|304099|304106|307666|307668|307673|307678|307679|307680|307683|307700|312720|312721|312722|312723|312847|312848|312849|312854|312855|312861|700368|722816|766526|782986|790777|804849|898787|898788|898789|898790|898791|898792|898793|898794|898795|898796|898797|898798|898799|898800|898801|898802|898803|898804|898805", + "text": "Hyperphosphatasemia with bone disease" + }, + { + "baseId": "22012|22013|22014|190419|190420|190421|192363|272169|319880|319885|319888|319889|319890|319892|319894|328402|328403|328404|328405|328409|328415|328417|328418|328419|334847|334852|334853|334862|334865|334866|334868|336653|336655|336660|336665|336667|336673|336678|336679|489921|493082|725493|871352|871353|871354|871355|871356|871357|871358|871359|871360|871361|871362|871363|871364|871365|871366|871367|871368|871369|872337|872338", + "text": "Autosomal recessive osteopetrosis 2" + }, + { + "baseId": "22016", + "text": "Rhabdomyosarcoma, somatic" + }, + { + "baseId": "22018|22019|22020|22021|22022|22023|76404|76412|76415|256653|256655|256656|256657|256658|331219|341498|346976|348241|532725|536083|653071|688913|694269|846827|879169|879170|879171|958460", + "text": "Holoprosencephaly 4" + }, + { + "baseId": "22024", + "text": "Major depressive disorder, increased recurrence of depressive episodes in, susceptibility to" + }, + { + "baseId": "22024", + "text": "Antidepressant drug treatment, accelerated response to" + }, + { + "baseId": "22025|22026|100996|100997|100998|204978|429030|512836|512915", + "text": "Bamforth-Lazarus syndrome" + }, + { + "baseId": "22027", + "text": "Hypothyroidism, thyroidal, with spiky hair and cleft palate" + }, + { + "baseId": "22028|22029|22030|22031|39226|99964|215480|320623|320625|320628|320629|320630|320634|329377|329381|329384|329387|329403|329405|335962|335964|335969|335971|335973|335975|335986|335994|335995|337946|337947|337948|337962|373093|373845|463235|528644|566447|568070|609060|609061|609062|609066|622903|622904|642457|642458|642459|693494|871869|871870|871871|871872|871873|871874|871875|871876|871877|871878|871879|871880|871881|871882|871883|871884|871885|871886|871887|871888|871889|871890|871891|871892|957222", + "text": "Congenital disorder of glycosylation, type IIa" + }, + { + "baseId": "22035|76355|76356", + "text": "Myocardial infarction 1" + }, + { + "baseId": "22036|22037", + "text": "Hypotrichosis 2" + }, + { + "baseId": "22038|252773|252774|270302|456628|456641|489129|610534|610535|636050|636051|710940|722463|736085|736086|736088|744380|782840|833499|924817|955129|970855", + "text": "Spondylocostal dysostosis 3, autosomal recessive" + }, + { + "baseId": "22039|22040|22041|22042|22043|22044|22045|22046|22047|22048|22049|22050|22051|204428|253286|253288|253289|253293|253294|253295|253297|259911|306673|306675|306682|306684|306685|306686|306691|306693|306697|306699|306708|306710|306713|306724|306725|306731|306733|306737|306738|306740|306741|306743|306744|306748|306751|306763|306764|306769|306774|306776|306780|306786|306787|306790|306791|306795|306798|306799|310851|310853|310860|310865|310867|310869|310871|310875|310879|310880|310881|310882|310883|310889|310891|310893|310910|310911|310917|310920|310921|310922|310926|310940|316376|316385|316386|316387|316388|316392|316396|316397|316399|316400|316407|316410|316411|316426|316431|316434|316439|316442|316462|316483|316484|316485|316487|316496|316499|316502|316503|316504|316530|316610|316617|316618|316627|316630|316638|316643|316646|316649|316652|316653|316657|316659|316670|316682|316691|316698|316705|316708|316709|316712|316717|316722|316723|316729|316735|316736|316737|316740|316743|316753|316761|316763|316767|316768|316769|354169|417436|417439|432300|481835|490222|513077|578652|590733|623300|653877|682510|683220|730605|798608|798609|798610|815850|815851|815852|815853|815854|815855|818264|900996|900997|900998|900999|901000|901001|901002|901003|901004|901005|901006|901007|901008|901009|901010|901011|901012|901013|901014|901015|901016|901017|901018|901019|901020|901021|901022|901023|901024|901025|901026|901027|901028|901029|901030|901031|901032|901033|901034|901035|901036|901037|901038|901039|901040|901041|901042|901043|901044|901045|901046|901047|901048|901049|901050|901051|901052|903310|903311|903312|962164|964304|964837|970890|971377|983463", + "text": "Nail-patella syndrome" + }, + { + "baseId": "22053|22055|22056|22059|22060|22061|22062|22063|54481|54482|54484|54486|54489|54490|54491|54492|54496|54497|54498|54499|54501|54502|54503|54505|54506|54507|54508|54509|89105|175072|175073|175074|175075|175076|175081|175082|175082|175083|175085|175086|175090|175091|175348|175351|175352|175354|175359|175361|175366|227342|229977|229980|229983|229990|229993|229994|229999|230001|230004|237609|237610|237611|273542|312810|312811|312812|312818|312829|312830|312835|312839|312841|312846|312851|312852|312853|312857|318828|318835|318836|318859|318870|318882|318883|318889|318898|324933|324943|324948|324959|324960|324961|324966|324969|324970|324971|324978|324982|324992|325005|325006|325011|325783|325803|325813|325818|325819|325820|325823|325828|325856|325862|325864|325867|325869|325870|325874|325878|389963|404795|421833|489962|493527|536807|620387|654629|654630|654637|677281|677282|752490|857678|857679|859843|867348|867349|867350|867351|867352|867353|867354|867355|867356|867357|867358|867359|867360|867361|867362|867363|867364|867365|867366|867367|867368|867369|867370|867371|867372|867373|867374|867375|867376|867377|867378|867379|919328|919329|919330", + "text": "Deafness, autosomal dominant 12" + }, + { + "baseId": "22054|22057|22058", + "text": "Deafness, neurosensory autosomal recessive 21" + }, + { + "baseId": "22064|22065|29046|29049|29050|294660|519673|632527|651126|691638|698680|698681", + "text": "Lewy body dementia" + }, + { + "baseId": "22066|22067|22068|22069|22070|22071|22072|141994|141996|141997|141999|142000|142002|142003|142004|142005|142007|142008|142009|191659|200103|200104|200105|259828|298105|298109|298186|304681|304722|304723|304976|304981|304985|304986|368255|368260|368532|368547|368548|368554|368556|368719|369939|369945|369947|433709|455965|501261|513279|521604|538989|560494|565201|620784|634031|634034|634035|634036|651340|651355|655683|686764|691880|695303|699175|721540|735205|735206|735209|735213|744075|744253|749601|749602|749603|749604|749605|749606|759387|765216|765217|775052|775085|775195|782340|782343|782347|795723|819608|819609|819610|830965|830969|851038|851990|924115|932956|932957|932958|932959|932960|940012|944660|944661|944662|954198|954200|954201|954202|954203|959772|959773|978206|978207|978208|978210|978211|978213|978216", + "text": "Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type" + }, + { + "baseId": "22068|28672|141992", + "text": "Neural tube defects, folate-sensitive, susceptibility to" + }, + { + "baseId": "22068", + "text": "Down syndrome, susceptibility to" + }, + { + "baseId": "22068|227763|362505", + "text": "methotrexate response - Toxicity/ADR" + }, + { + "baseId": "22073|22074|22075|22076|22077|22079|22080|22081|22082|22083|22084|22085|22086|22087|22089|22089|22090|22091|22092|22093|22094|49644|49645|49646|49647|59479|215779|239896|265741|267741|273419|299552|299558|299566|299567|299575|299576|299579|299582|299583|299589|299590|302087|302094|302095|302100|302101|302102|302104|302107|302111|302116|302128|302129|306507|306523|306524|306528|306531|306532|306546|306771|306772|306775|306783|306784|306785|306792|306808|306809|306811|306812|394996|394998|395072|395079|395080|395171|395226|395227|395228|395420|395426|395641|406849|413736|438347|455116|455265|455271|455272|455430|455450|455455|455534|455998|456260|456269|456276|521494|521887|550844|560399|560501|560506|560508|560654|560656|560658|560660|563258|563260|563480|563481|565508|565509|565522|634764|634766|634768|634771|634773|651540|651583|683770|683771|686815|798915|799032|819680|859497|895621|895622|895623|895624|895625|895626|895627|895628|895629|895630|895631|895632|895633|895634|895635|895636|895637|895638|895639|895640|895641|895642|895643|895644|895645|895646|895647|895648|895649|895650|895651|895652|895653|895654|895655|895656|895657|895658|895659|895660|895661|895662|895663|895664|896213|964910", + "text": "Parkinson disease 2" + }, + { + "baseId": "22088|23582|23584|27386|27388|27393|27394|27395|27397|27398|27403|27404|27405|27407|27408|27409|27422|27617|27641|27642|27645|27646|27650|27652|28691|28692|28694|28695|28698|28914|28915|28916|28939|28996|29000|29005|29006|29007|29009|29010|29011|29013|29022|30972|30973|31371|31648|31650|31967|31968|32616|32618|32619|32621|32622|32623|32625|32626|32627|32628|36171|36173|40609|44227|48304|48857|49030|50071|53970|53980|53985|54284|54289|54392|54406|70450|83949|133271|133272|133274|133276|139098|150515|150535|150855|151476|151595|151897|151955|152428|166215|171613|171614|174177|174254|176503|179419|180995|181000|181001|181005|185345|185350|185366|185367|185371|185375|185384|185394|186283|206650|213392|213398|213402|213943|214512|214513|224866|232035|236459|236461|236462|236463|236468|236469|236471|236477|236479|236481|239564|242978|242980|245074|260191|260192|263939|359197|360335|361709|362753|362759|362760|362761|362768|362770|362771|362772|362773|362774|362775|362822|362826|362859|362894|362895|362896|362904|362905|362912|362929|362952|362954|363011|363012|363013|363014|363015|363016|363017|363018|363036|363053|363067|363068|363110|363112|363113|363114|363121|363123|363165|363174|363179|363186|363194|363197|363201|363202|363210|363245|363246|363247|363248|363249|363250|363251|363253|363254|363255|363256|363257|363258|363259|363260|363264|363269|363270|363271|363272|363273|363293|363294|363295|363296|363297|363312|363321|363322|363323|363324|363325|363326|363327|363337|363338|363340|363341|363342|363343|363344|363345|363346|363347|363349|363350|363351|363352|363353|363354|363355|363356|363357|363360|363361|363362|363363|363367|363368|363369|363384|363385|363386|363393|363396|363397|363416|363417|363418|363419|363420|363421|363438|363439|363440|363441|363442|363443|363444|363445|363446|363447|363448|363449|363450|363451|363452|363453|363454|363455|363456|363457|363458|363459|363460|363461|363462|363463|363464|363465|363466|363467|363468|363469|363470|363471|363472|363473|363474|363475|363476|363477|363478|363479|363480|363481|363482|363483|363484|363485|363486|363487|363488|363489|363490|363491|363492|363493|363496|363497|363498|363499|363500|363501|363502|363503|363504|363505|363506|363507|363508|363512|363513|363514|363515|363516|363517|363518|363519|363520|363521|363522|363523|363524|363525|363526|363527|363528|363529|363530|363531|363532|363533|363534|363535|363536|363537|363538|363539|363540|363541|363542|363543|363544|363545|363546|363547|363548|363549|363550|363551|363552|363553|363554|363555|363556|363557|363558|363559|363560|363561|363562|363563|363564|363565|363566|363567|363568|363572|363573|363580|363587|424553|424554|424557|488234|550726|550727|550728", + "text": "Lung adenocarcinoma" + }, + { + "baseId": "22089", + "text": "Leprosy 2" + }, + { + "baseId": "22095|22096|22097|22098|22099|22100|22101|106635|106636|106637|106638|135507|135509|135510|135511|135512|135513|135514|135516|135517|135518|188929|206842|206843|281823|281824|281827|281834|282466|282467|282468|282472|282484|282486|284089|284095|284096|284100|284101|284102|284126|284127|284128|284131|284133|284134|284311|284313|284316|284317|284321|284335|284347|284348|284349|363693|365536|405294|427879|427880|440522|513246|535674|535675|535676|552048|552049|612346|612347|623129|697026|788741|789110|881040|881041|881042|881043|881044|881045|881046|881047|881048|881049|881050|881051|881052|881053|881054|881055|881056|881057|881058|881059|881060|881061|881062|881063|881064|881065|882796", + "text": "Warburg micro syndrome 1" + }, + { + "baseId": "22102|22103|22104|22105|22106|281251|281253|281869|281870|283115|283116|283121|283315|283316|283317|283318|283319|440521|448380|516087|556503|557376|557378|558597|628270|628271|650547|658097|690677|792720|794726|824426|864818|864819|864820|864821|864822|864823|865210|942104", + "text": "Parkinson disease 7" + }, + { + "baseId": "22109|22110|22111|22112|22113|22114|22115|22116|39224|45320|105689|168980|168981|168982|168983|168985|168986|168988|168989|168990|168992|168993|168994|168995|168996|168997|169004|169005|169007|169008|205017|205772|207972|207973|207976|213622|271629|359970|360041|360041|408686|425993|429430|429432|429435|432218|481496|553386|576155|581957|611416|611417|613819|621031|677055|788867|791253|855109|855110|855111|855112|861574|861575|964389|965453|965987|966890", + "text": "Lissencephaly 3" + }, + { + "baseId": "22109|22110|22111|22112|22113|22114|22115|22116|39224|168980|168981|168982|168983|168985|168986|168988|168990|168992|168994|168996|168997|169004|169005|169007|188844|205017|205772|207972|207973|207976|213622|260021|260022|271629|359970|360041|372337|373114|373308|375180|408686|408687|408688|408689|408690|408691|415338|415339|415340|421929|421930|421931|425988|425989|425990|425992|425993|429430|429432|429435|431921|432218|445034|445035|445036|445037|481496|512020|512021|512022|512023|613776|613777|613778|613779|613780|613781|613782|613783|613784|613786|613787|613788|613789|613790|613792|613793|613795|613796|613797|613798|613801|613802|613803|613804|613807|613808|613809|613810|613811|613812|613813|613814|613815|613816|613817|613819|613820|613821|613822|613825", + "text": "Tubulinopathies" + }, + { + "baseId": "22117|22118|22119|53746|53750|102599|107268|174271|174406|174407|229297|295774|297585|301477|301691|301693|301711|301716|301720|360866|537472|609580|861622|893196|893197|893198|893199|893200|893201|893202|961807|961808|961809|961810", + "text": "Deafness, autosomal dominant 15" + }, + { + "baseId": "22120", + "text": "Low density lipoprotein cholesterol level quantitative trait locus 6" + }, + { + "baseId": "22121|22122", + "text": "Colorectal cancer with chromosomal instability, somatic" + }, + { + "baseId": "22123|22124", + "text": "PARAOXONASE 2 POLYMORPHISM" + }, + { + "baseId": "22125|22126|22127|22128|22129|237081|289457|289465|289466|289473|289474|289479|290230|290236|290239|290240|290245|293317|293320|293329|293333|293334|293346|293348|293349|293751|293757|293763|293767|353642|353645|451904|451912|451918|451921|452123|452280|452283|452287|452290|452360|452364|452366|452378|518953|518962|519126|519129|519136|519139|558832|559367|561241|561243|561245|562537|562541|576721|631025|631026|631027|631028|631029|651074|763724|781608|819347|819349|827656|827657|827658|827659|827660|827661|851546|888361|888362|888363|888364|888365|891617|891618|923081|923082|923083|923084|923085|923086|943396|943397|943398|953380|953381|964216", + "text": "Encephalopathy, familial, with neuroserpin inclusion bodies" + }, + { + "baseId": "22130", + "text": "Tuberculosis, susceptibility to" + }, + { + "baseId": "22130|25399|25402|25406|25407|25411|25425|25428|404771|404772|404773|578461|816347", + "text": "Susceptibility to malaria" + }, + { + "baseId": "22130", + "text": "Bacteremia, susceptibility to, 2" + }, + { + "baseId": "22131|22132|22133|22134|255854|326089|326093|326094|326095|326097|335767|335771|335776|335777|335779|335782|335783|342106|342115|342117|342122|342127|342131|342133|342136|342142|342143|343633|343634|343638|343641|343649|343656|343658|343664|466544|466793|466795|466799|513361|570319|570321|570347|574099|576173|620880|875770|875771|875772|875773|875774|875775|875776|875777|875778|875779|875780|875781|875782|875783|875784|875785|875786|875787|875788|875789|876704|919671|937527", + "text": "Cataract 5 multiple types" + }, + { + "baseId": "22135|22136|22137|22137|22138|101917|253708|253709|253710|260885|320645|321211|321213|321224|460629|525242|564400|564407|569552|569554|638772|638773|652314|692805|692807|692808|737406|820193|820194|820195|836694|851766|852234|934978|934979|946839|956006", + "text": "Glaucoma 1, open angle, e" + }, + { + "baseId": "22137|22137|22138|22139|22140|22141|101916|101917|101917|195007|253708|253708|253709|253709|253710|260885|309724|309725|309726|309727|309732|309734|309739|309743|314575|314577|314579|314580|314581|314594|314622|314630|320644|320645|320645|320651|320654|320655|320656|320657|320658|320662|321180|321188|321189|321201|321211|321211|321213|321213|321216|321224|321224|321225|321235|321239|441368|460629|525242|564400|564407|569552|569554|620347|638772|638773|652314|692805|692805|692807|692808|737406|820193|820194|820195|836694|851766|852234|861365|861366|861367|861368|865595|865596|865597|865598|865599|865600|865601|865602|865603|865604|865605|865606|865607|865608|868457|934978|934979|946839|956006|980496", + "text": "Amyotrophic lateral sclerosis type 12" + }, + { + "baseId": "22137|22137|22138|22783|22988|101916|101917|101917|132463|132467|132468|132469|132470|132471|195007|226781|226782|226783|226784|226785|243828|251608|253708|253708|253709|253709|253710|260885|294835|294873|296586|296605|296614|296677|300278|300279|300299|300349|300353|300385|300410|309724|309725|309726|309727|309732|309734|309739|309743|314575|314577|314579|314580|314581|314594|314616|314619|314621|314622|314630|320644|320645|320645|320651|320654|320655|320656|320657|320658|320662|321180|321188|321189|321201|321211|321211|321213|321213|321216|321224|321224|321225|321235|321239|353123|353124|353675|441368|460629|525242|564400|564407|569552|569554|620347|638772|638773|652314|692805|692805|692807|692808|737406|790945|820193|820194|820195|836694|851766|852234|865595|865596|865597|865598|865599|865600|865601|865602|865603|865604|865605|865606|865607|865608|868457|919261|920282|934978|934979|946839|956006", + "text": "Primary open angle glaucoma" + }, + { + "baseId": "22138|294184", + "text": "Glaucoma, normal tension, susceptibility to" + }, + { + "baseId": "22142|22143|226080|226081|226082|227265|291567|291568|291570|291575|291577|291581|291583|291591|291594|291597|291600|291604|291605|291609|291611|291615|291617|291621|291623|291625|291626|291629|291635|291640|291641|291646|291647|291648|291652|291653|292842|292843|292853|292854|292860|292861|292871|292894|292900|292908|292909|292918|292923|292930|292931|292934|292935|292936|292938|292940|292943|292945|292954|292956|292957|292958|292961|292977|296178|296180|296182|296200|296201|296202|296203|296205|296206|296208|296209|296210|296212|296215|296217|296218|296220|296221|296222|296225|296226|296229|296230|296238|296240|296242|296244|296249|296250|296251|296252|296254|296256|296257|296259|296268|296271|296272|296282|296283|296284|296295|296296|296297|508789|508790|889654|889655|889656|889657|889658|889659|889660|889661|889662|889663|889664|889665|889666|889667|889668|889669|889670|889671|889672|889673|889674|889675|889676|889677|889678|889679|889680|889681|889682|889683|889684|889685|889686|889687|889688|889689|889690|889691|889692|889693|889694|889695|889696|889697|889698|889699|889700|889701|889702|889703|918859", + "text": "Vesicoureteral reflux 2" + }, + { + "baseId": "22142|22143|23410|23410|190824|216789|226070|226071|226072|226079|226081|226082|226085|226087|226092|226093|226094|237224|291575|299774|353877|491288|539162|553567|622098|622100|623434|672234|672235|672263|672264|692527|889672|983661|983662|983665|983666|983667|983668|983669|983670|983671|983736|983737|983744|983804|983805|983806", + "text": "Congenital anomalies of kidney and urinary tract" + }, + { + "baseId": "22144|205614", + "text": "Bronchiectasis with or without elevated sweat chloride 1, modifier of" + }, + { + "baseId": "22144|22148|22150|22154|22154|22157|22159|22159|22161|22168|22170|22178|22183|22194|22203|22205|22229|22233|22237|23217|23219|26915|26916|26916|26917|26918|26919|26920|26921|26922|26923|26924|28799|28800|28801|28803|28804|28805|33858|38878|44485|44490|44497|44499|44501|44503|44506|44529|44540|44549|44557|45365|45366|45367|45439|45440|45441|45442|46925|46928|47058|47062|47333|47335|52745|57842|57850|57854|67842|67908|67925|68006|68128|68169|68229|68274|68413|68465|68552|68579|68674|68685|68703|77006|99060|136364|136364|136365|136366|136367|136368|136370|136371|136372|136374|136464|171710|171711|171712|171713|171714|171715|238139|238140|238141|238142|238143|238144|239767|239768|239769|239770|239771|239772|239773|239988|239989|249402|249403|249404|251795|251796|251797|252638|252639|252641|252642|262405|265410|276506|276507|276729|276735|276737|277288|277302|277306|277307|277314|277377|277378|277383|277389|295901|301628|301637|301696|301812|353064|389795|390793|390798|390806|390810|390817|394831|394832|395245|395425|395442|395446|395647|395650|395831|395909|396065|396091|396092|396101|421170|432973|432976|432977|432978|432979|432980|432981|432982|432983|432984|432985|433010|433013|433016|433046|433048|442477|447225|454062|455518|455523|456419|456421|456732|456732|456736|457002|457003|457446|487129|487199|487259|489825|489830|508821|508822|514864|515144|520159|521091|521300|522343|522608|522612|522615|523064|523078|537681|537775|556485|556653|556655|556657|556935|556937|556939|558116|558118|558120|558122|559831|561559|561562|561564|561570|561582|562906|562907|563843|564137|564140|564141|564881|566053|566504|566508|609347|609348|609351|609352|609581|609658|612280|621737|626854|626855|626856|626857|626858|626859|626860|626861|626862|626863|626864|626865|633552|635794|635795|635796|635797|635798|635799|635800|635801|635802|635803|635804|635805|650522|650529|650622|650665|651225|651606|651703|685565|685566|689857|690361|745711|766136|799107|799108|799109|799110|799111|799112|799113|799114|799115|799116|799117|799118|806444|806447|806449|808571|808976|808978|815210|818814|818815|819563|819828|819829|819830|819832|822755|822756|822757|822758|822759|822760|830426|830427|833226|833227|833228|833229|833230|833231|852341|862353|862354|862355|862356|862357|862358|864982|864983|893271|893272|893273|893274|923917|924717|924718|930044|930045|930046|930047|933718|933719|933720|933721|933722|941461|941462|941463|945490|945491|955074|959840|959841|961849|961851|981219|981220|981221|981222|981223|981224|981225|981226|981227|981228|981229|981592|981593", + "text": "Hereditary pancreatitis" + }, + { + "baseId": "22144|22147|22148|22150|22155|22157|22159|22181|22198|22203|22221|22229|22237|22256|44529|44530|44531|44545|47338|57854|67993|68032|68093|68243|68269|68339|68353|68356|68382|68465|68673|193438|538601", + "text": "ivacaftor response - Efficacy" + }, + { + "baseId": "22144", + "text": "ivacaftor / lumacaftor response - Efficacy" + }, + { + "baseId": "22144", + "text": "Duodenal stenosis" + }, + { + "baseId": "22144|46925", + "text": "Recurrent pancreatitis" + }, + { + "baseId": "22144|22145|22146|22147|22148|22148|22148|22149|22150|22150|22151|22152|22153|22154|22154|22155|22157|22157|22158|22159|22159|22161|22161|22162|22163|22166|22167|22168|22168|22173|22175|22176|22178|22178|22180|22182|22183|22183|22189|22194|22194|22197|22199|22201|22203|22204|22205|22207|22210|22211|22221|22224|22225|22226|22229|22229|22233|22233|22237|22237|22242|22247|22262|22270|22271|22279|33858|33858|44485|44485|44486|44487|44488|44495|44497|44497|44499|44500|44501|44502|44506|44510|44513|44514|44518|44521|44525|44528|44529|44530|44531|44532|44539|44554|44557|46824|47057|47058|47058|47059|47062|47062|47331|47333|47333|47335|47335|47338|47340|48115|57834|57842|57842|57843|57846|57847|57850|57850|57854|57854|57866|57870|67830|67835|67858|67864|67886|67897|67901|67905|67910|67913|67943|67985|67993|68006|68006|68020|68033|68042|68052|68071|68072|68085|68093|68108|68109|68128|68139|68148|68151|68155|68160|68171|68197|68220|68229|68243|68248|68269|68270|68272|68274|68274|68282|68295|68308|68320|68340|68348|68352|68353|68356|68358|68379|68465|68465|68472|68479|68508|68512|68513|68550|68579|68597|68614|68616|68629|68638|68641|68658|68674|68677|68679|68681|68685|68685|68693|68703|68703|68708|68722|68725|68736|68756|68764|77003|174036|186747|205614|247420|247421|247422|270918|357574|357574|357575|357582|396065|432617|432629|480439|485739|487199|487214|487243|487259|544223|544495|544513|544518|544530|587967|610320|610342|610349|679347|679348|679349|679350|679351|679352|789477|801646|801647|801648|801649", + "text": "Congenital bilateral aplasia of vas deferens from CFTR mutation" + }, + { + "baseId": "22147|22148|22151|22153|22158|22165|22169|22174|22203|22204|22205|22207|22220|22221|22221|22225|22229|22232|22233|22235|22244|22250|22268|22276|22277|33858|44483|44484|44485|44488|44489|44490|44491|44494|44497|44499|44500|44503|44506|44508|44514|44516|44517|44524|44525|44528|44529|44530|44531|44533|44534|44536|44557|44558|47058|47062|47340|47455|52745|52746|57846|57850|67827|67838|67842|67858|67862|67874|67879|67897|67899|67912|67916|67929|67948|67983|67985|67993|68006|68012|68015|68023|68033|68056|68059|68063|68066|68071|68098|68116|68124|68128|68132|68133|68177|68183|68189|68197|68204|68211|68214|68216|68218|68237|68243|68243|68248|68260|68269|68271|68272|68278|68299|68306|68352|68353|68360|68376|68382|68386|68388|68405|68415|68417|68418|68425|68447|68449|68457|68469|68494|68500|68513|68563|68579|68595|68604|68614|68620|68638|68650|68677|68683|68688|68689|68698|68702|68708|68722|68742|68749|68761|87501|99055|99060|99061|99062|99063|99064|99066|174035|174036|186744|190755|190756|190757|192084|192625|195898|205614|212565|221666|239981|239986|252569|252571|273837|301669|301688|301692|301694|301695|301700|301705|304907|304908|304911|309497|309514|309534|309633|309636|309643|357585|395813|432604|432631|432635|456650|486425|487199|487264|487294|491495|522085|522450|544451|621226|635553|692112|699773|799473|799489|806296|806297|806305|806311|806312|806321|806323|806330|806333|806343|806352|806356|816411|816429|897315|897316|897317|897318|897319|897320|897321|897322|897323|897324|897325|897326|897327|897328|897329|897330|897331|897332|897333|897334|897335|897336|897337|897338|897339|897340|900306|900307|900308|961815", + "text": "CFTR-related disorders" + }, + { + "baseId": "22148|22150|22154|22157|22159|22161|22168|22178|22183|22194|22205|22229|22233|22237|23871|23877|23878|23879|23880|23881|23882|23883|33858|44485|44497|44499|44501|44506|44557|47058|47062|47333|47335|57842|57850|57854|68006|68229|68274|68465|68579|68674|68685|68703|176011|176012|176013|176014|176154|176156|176157|230632|230633|255672|324718|324720|324721|324723|324726|324727|324730|324735|334300|334301|334307|334317|334318|334319|334320|340948|340950|340954|340958|340959|340960|340968|340972|342413|342420|342424|342427|342429|342436|396065|487199|487259|874936|874937|874938|874939|874940|874941|874942|874943|874944|874945|874946|874947|874948|874949|874950|874951|874952|874953|874954|874955|876643|876644", + "text": "Bronchiectasis with or without elevated sweat chloride 1" + }, + { + "baseId": "22154|22168|362498", + "text": "ataluren response - Efficacy" + }, + { + "baseId": "22204|44499", + "text": "Chronic sinusitis" + }, + { + "baseId": "22204|44499|44503|68754", + "text": "Lung disease, non-specific" + }, + { + "baseId": "22231", + "text": "Ivacaftor response" + }, + { + "baseId": "22262", + "text": "Sweat chloride elevation without cystic fibrosis" + }, + { + "baseId": "22268", + "text": "Pancreatitis, idiopathic, susceptibility to" + }, + { + "baseId": "22268", + "text": "Hypertrypsinemia, neonatal, susceptibility to" + }, + { + "baseId": "22268|52745", + "text": "Pancreatitis" + }, + { + "baseId": "22280|22280|22281|22281|22282|22283|50212|50214|50215|50215|138933|138934|151597|152618|171051|172491|181595|181596|181598|181599|181600|181600|181603|187698|195315|221084|232167|232168|238107|238158|238159|238160|238161|238162|238162|238163|238164|238164|238165|238166|238167|238168|238169|238169|277948|353066|358695|358695|358696|358697|358697|359203|390713|390714|390719|390847|390853|390856|390861|390863|390864|390864|390865|390866|390867|390868|390869|390871|390872|390873|390874|390874|390875|390879|390881|390883|390884|390885|390886|390887|390888|390889|390902|420733|420734|420736|432491|446908|446909|446921|446924|447261|447263|447265|447326|447330|447331|447335|447336|447378|447380|447384|447384|447388|447403|447405|447444|447448|447449|447454|447455|447458|472267|472269|472270|472275|514871|515238|515247|515248|515249|515251|515254|515255|515256|515266|515269|515271|515272|515275|515277|515343|515347|550200|556668|556670|556672|556672|556674|556676|556678|556680|556727|556729|556731|556863|556869|556870|557016|557018|557020|557022|557024|557026|557028|558204|558206|558208|558210|558212|558214|558216|627029|627030|627031|627032|627033|627034|627035|627036|627037|627038|627040|627041|627042|627043|627044|627045|627046|627047|627048|627049|627050|627051|627052|627053|627054|650532|650551|650557|650563|650642|683293|690403|690404|690405|690406|777040|780365|780366|787026|806455|806457|815211|818848|818851|818852|818853|818854|818855|818856|818857|818858|818859|818860|822945|822946|822947|822948|822949|822950|822951|822952|822953|822954|822955|822956|822957|822958|822959|822960|822961|822962|850742|851192|921722|921723|921724|921725|921726|930124|930125|930126|930127|930128|930129|930130|930131|939780|941549|941550|941551|941552|952126|952127|952128|952129|952130|952131|959527|959528|960411|966354", + "text": "Paragangliomas 3" + }, + { + "baseId": "22283|152315|181616|187697|187698|187699", + "text": "Carney triad" + }, + { + "baseId": "22284|22285|22286|94533|240848|311240|311253|316666|322670|322671|322682|322683|322688|322695|322696|323397|323403|540530|685276|866348|866349|866350|866351|866352|868512|868513|961957", + "text": "Diamond-Blackfan anemia 3" + }, + { + "baseId": "22287", + "text": "BLEOMYCIN HYDROLASE POLYMORPHISM" + }, + { + "baseId": "22288|22289|22290|22291|22292|22293|22294|22295|22296|22298|22299|22300|538459|590466|590467|590468|590469|612133|679796|904912|975870|983466", + "text": "Distichiasis-lymphedema syndrome" + }, + { + "baseId": "22297", + "text": "Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus" + }, + { + "baseId": "22301|22302|22303|22304|22305|22306|22308|22310|22312|22313|28736|131915|131916|192408|192844|193434|195693|214536|214537|217180|217181|217182|256685|256686|256687|256688|256689|256690|256691|256692|256693|256694|256695|256696|256698|256699|265376|266813|271041|271122|272947|273423|273794|275208|275489|331906|331907|331910|331916|331917|331921|331922|331924|331925|331935|331936|331944|331945|331946|331948|331949|342146|342149|342150|342152|342157|342161|342163|342165|342167|347495|347497|347498|347499|347508|347511|347515|347520|347524|347525|347533|347535|347538|347539|348880|348881|348883|348885|348889|348890|348896|348897|348899|348902|348912|348914|348915|348918|348919|369991|376934|376934|377123|379090|379097|489849|490899|492019|492177|584224|584239|585559|585567|586303|586666|586682|587741|620625|620900|620901|682855|790753|790754|790755|790756|790757|790758|791876|791877|791878|792813|792813|879471|879472|879473|879474|879475|879476|879477|879478|879479|879480|879481|879482|879483|879484|879485|879486|879487|879488|879489|879490|879491|879492|879493|879494|879495|879496|879497|879498|879499|879500|879501|879502|879503|879504|879505|879506|879507|879508|879509|879510|879511|879512|879513|879514|879515|879516|880667|880668|880669", + "text": "Cholestasis, progressive familial intrahepatic 1" + }, + { + "baseId": "22306|22307|22309|22310|376934|489849", + "text": "Cholestasis, benign recurrent intrahepatic 1" + }, + { + "baseId": "22310|22311|376934|489849|792813", + "text": "Cholestasis of pregnancy" + }, + { + "baseId": "22313|961887", + "text": "Familial intrahepatic cholestasis type 1" + }, + { + "baseId": "22314|141562|141563|141565|211711|211713|211715|211717|324910|324911|324922|324925|324929|324931|334519|334522|334524|334530|334534|334538|334559|341082|341084|341086|341093|341100|341101|341108|341112|342622|342623|342627|342629|342631|342632|359087|359088|375042|413437|481497|505551|875059|875060|875061|875062|875063|875064|875065|875066|875067|875068|875069|875070|875071|875072|876649", + "text": "Combined oxidative phosphorylation deficiency 4" + }, + { + "baseId": "22315|22318|22319|22320|22321|22324|22326|137717|137718|137719|137720|140833|140834|169456|169457|169458|169459|169461|169464|169468|169470|169471|169472|192264|213426|213427|215729|222761|232067|232069|243082|245107|245108|245112|245114|245115|245116|245120|245121|256745|256746|256747|272211|332387|332392|332399|332401|332403|332406|332407|332409|332411|332413|332414|332418|332419|332430|342541|342541|342542|342549|342568|342570|342577|347936|347937|347944|347947|347949|347950|347954|347961|347964|347965|349249|349250|349252|349254|349257|349258|349262|349264|349266|349268|349273|349274|349276|361497|376113|377055|377223|377232|379186|402871|403339|403340|403343|403344|403369|410418|442037|442038|442040|442041|446021|468210|468215|468223|468225|468230|469096|469097|469101|469506|469513|469953|469962|469966|469970|469976|490018|506425|506445|506453|506454|506647|507078|507472|532411|532417|532426|532427|532428|532433|532435|532476|532477|532480|532486|532533|532542|532543|532546|532897|532902|553398|570345|570350|570353|570354|570359|570365|570366|570372|572055|572058|572059|572063|572064|572066|572072|572694|572746|572748|572750|572751|574808|574810|574812|574814|574816|574818|574820|577700|647450|647451|647452|647453|647454|647455|647456|647457|647458|647459|647460|647461|647462|647463|647464|647465|647466|647467|647468|647469|647470|647471|647472|647473|647474|647475|647476|647477|647478|647479|647480|647481|647482|652980|653100|653130|684769|684770|684771|688943|688944|688946|688947|688948|690198|690199|694300|694301|694302|694304|694305|695799|704729|756632|760733|772302|776819|778483|785998|793721|804747|821205|821206|821207|821208|821209|847066|847067|847068|847069|847070|847071|847072|847073|847074|847075|847076|847077|847078|847079|847080|847081|847082|847083|847084|847085|847086|847087|847088|847089|847090|847091|851783|851785|852830|852832|852944|879803|879804|879805|879806|879807|879808|879809|879810|879811|879812|879813|879814|879815|879816|879817|879818|879819|879820|879821|879822|879823|880687|919815|928786|928787|928788|928789|928790|928791|928792|928793|928794|938512|938513|938514|938515|938516|938517|938518|938519|938520|938521|938522|940462|950604|950605|950606|950607|950608|950609|950610|950611|950612|950613|958510|958511|960274", + "text": "Charcot-Marie-Tooth disease, dominant intermediate B" + }, + { + "baseId": "22316|22317", + "text": "Charcot-Marie-Tooth disease, dominant intermediate b, with neutropenia" + }, + { + "baseId": "22318|22319|22320|22321|22324|29192|137717|137718|140833|140834|169456|169457|169459|169461|169464|169468|169470|169471|169472|192264|222761|243082|245114|245115|256745|256746|256747|332387|332392|332399|332401|332403|332406|332407|332409|332411|332413|332414|332418|332419|332430|342541|342541|342542|342549|342568|342570|342577|347936|347937|347944|347947|347949|347950|347954|347961|347964|347965|349249|349250|349252|349254|349257|349258|349262|349264|349266|349268|349273|349274|349276|403344|462747|532411|532480|552214|553398|610683|619849|622489|647454|647469|682853|690199|694300|778483|795486|858791|879803|879804|879805|879806|879807|879808|879809|879810|879811|879812|879813|879814|879815|879816|879817|879818|879819|879820|879821|879822|879823|880687|918863|918864|919815|919816|920393", + "text": "Myopathy, centronuclear, 1" + }, + { + "baseId": "22318|22319|22320|22321|22324|169457|169458|169460|169461|169465|169466|169467|169469", + "text": "Myopathy, centronuclear" + }, + { + "baseId": "22322|22323|22326", + "text": "Charcot-Marie-Tooth disease, type 2M" + }, + { + "baseId": "22324|22325|26092|26093|26094|26095|26096|26097|26098|26099|26100|26101|98576|98584|98585|169954|169955|169956|169957|169959|169960|169961|169962|169963|169964|169966|169967|169968|169969|169970|169971|169972|169973|169974|169975|169976|169977|169978|169979|169980|169981|169982|169983|169984|169985|169986|169987|169988|169989|169990|169991|169992|169993|169994|169995|169996|169998|169999|170000|170001|170002|170003|170004|170005|170006|170007|170008|170010|170011|170012|170013|170014|170015|170016|170018|170019|170020|170021|170022|170023|170024|170025|170026|170027|170028|170029|170030|170031|170032|170033|170034|170035|170036|170037|170039|170040|170041|170042|170043|170044|170045|170046|170047|170048|170049|170050|170051|170052|170053|170054|170055|170056|170057|170058|170059|170060|170061|170062|170063|170064|170065|170066|170067|170069|170070|170071|170072|170073|170074|208896|208897|208899|208900|208901|208902|208903|208904|208905|208906|208907|208908|208909|208910|208911|208912|269331|353913|378938|430678|430679|430680|430681|470529|470530|471343|472074|472075|492309|507778|508352|534574|534575|534643|534847|535060|535062|572060|573616|573617|573626|574333|575276|575345|621917|621918|621919|621920|649746|649747|649748|649749|649750|649751|653281|653346|653728|653776|689370|694805|706131|717675|729453|743176|743178|743179|758325|758327|773833|773834|778700|786723|786726|786728|788367|792134|792135|821481|821482|821483|821484|849709|849710|849711|849712|849713|849714|849715|849716|851940|919980|920438|929591|929592|929593|929594|939462|951633|959180|959181|959182|960975|964700|972397|972398|972399|972400|972401|972402|972403|972404|980089", + "text": "Severe X-linked myotubular myopathy" + }, + { + "baseId": "22327|31962|32992|980456", + "text": "Hepatitis b virus, susceptibility to" + }, + { + "baseId": "22328|22328|22329|22330|22331|22332|22335|22336|22336|22337|22338|22340|150118|150119|150119|150120|195631|254361|254363|254364|315448|315452|315457|315458|315458|315459|315460|315464|315465|315469|322293|322293|322295|322295|322314|322316|322327|322329|328430|328430|328442|328446|328450|328450|328460|328461|329760|329761|329762|329771|329771|390098|461487|461487|461489|461499|462344|526561|526565|526573|539185|564930|567569|571047|612294|640490|640491|640492|640493|640494|640494|640495|640496|640497|640498|640499|640500|640500|640501|640502|640503|652353|678052|724785|753012|768826|768827|775763|820420|839153|839154|839155|839156|839157|839158|839159|839160|839161|868924|868925|868926|868927|868927|868928|868929|868930|868931|868932|868933|868934|868935|868936|872150|872151|926413|935848|935849|935850|935851|947729", + "text": "Papillon-Lef\u00e8vre syndrome" + }, + { + "baseId": "22328|22336|22339|22340|150119|150120|315458|322293|322295|328430|328450|329771|390098|461487|461489|461499|462344|526561|526565|526573|539042|539185|564930|567569|571047|640490|640491|640492|640493|640494|640495|640496|640497|640498|640499|640500|640501|640502|640503|652353|724785|753012|768826|768827|775763|820420|839153|839154|839155|839156|839157|839158|839159|839160|839161|868927|926413|935848|935849|935850|935851|947729", + "text": "Periodontitis, aggressive, 1" + }, + { + "baseId": "22328|22333|22336|150119|195631|254361|254363|254364|315448|315452|315457|315458|315458|315459|315460|315464|315465|315469|322293|322293|322295|322295|322314|322316|322327|322329|328430|328430|328442|328446|328450|328450|328460|328461|329760|329761|329762|329771|329771|390098|461487|461487|461489|461499|462344|526561|526565|526573|539185|564930|567569|571047|640490|640491|640492|640493|640494|640494|640495|640496|640497|640498|640499|640500|640500|640501|640502|640503|652353|724785|753012|768826|768827|775763|820420|839153|839154|839155|839156|839157|839158|839159|839160|839161|868924|868925|868926|868927|868927|868928|868929|868930|868931|868932|868933|868934|868936|872150|872151|926413|935848|935849|935850|935851|947729", + "text": "Haim-Munk syndrome" + }, + { + "baseId": "22341|34151|70560|70561|70563|134583|134584|141152|141153|141154|141155|141157|195295|202849|202852|202853|202854|202858|202859|202860|202861|202863|227722|227725|227728|227729|322635|322636|332157|332160|332161|332163|332168|339114|339115|339119|339120|340648|340649|340653|340654|340655|340656|374091|376452|464297|464299|464823|464832|464833|490059|504786|528901|529253|529255|529261|539059|567092|567094|568572|568859|569422|573319|573320|580005|614395|643282|643283|643284|643285|643286|643287|652567|688439|690106|820707|842414|842415|842416|842417|842418|842419|842420|842421|842422|842423|842424|842425|842426|852041|873656|873657|873658|873659|873660|873661|873662|873663|873664|873665|873666|873667|927342|936954|936955|941090|948908|948909|948910", + "text": "Arginine:glycine amidinotransferase deficiency" + }, + { + "baseId": "22342", + "text": "Narcolepsy 1" + }, + { + "baseId": "22343|22344|22345|22350|22351|22355|22356|168798|168799|168800|168801|168802|168803|168805|168806|168807|168808|168809|168810|168811|168812|190451|193554|195336|195337|196255|196256|265666|265732|266997|268846|268870|271564|271928|272374|273661|273667|274924|308858|308859|308866|308867|308871|308873|308874|308875|308887|308888|308892|308893|308898|313523|313540|313545|313549|313550|313553|313554|313555|313565|313566|313571|313573|319299|319314|319319|319327|319343|319346|319349|319350|319351|319353|319357|319358|319359|319924|319932|319934|319938|319939|319956|319958|491333|737233|902466|902467|902468|902469|902470|902471|902472|902473|902474|902475|902476|902477|902478|902479|902480|902481|902482|902483|902484|902485|902486|902487|902488|902489|902490|902491|902492|902493|902494|902495|902496|902497|902498|902499|902500|902501|902502|902503|903443", + "text": "Brachydactyly type B1" + }, + { + "baseId": "22346|22347|22348|22349|22352|22353|22354|22357|168798|168799|168800|168801|168802|168803|168805|168806|168807|168808|168809|168810|168811|168812|190451|193554|195336|195337|196255|196256|196257|265666|265732|266997|268846|268870|271564|271928|272374|273661|273667|274924|308858|308859|308866|308867|308871|308873|308874|308875|308887|308888|308892|308893|308898|313523|313540|313545|313549|313550|313553|313554|313555|313565|313566|313571|313573|319299|319314|319319|319327|319343|319346|319349|319350|319351|319353|319357|319358|319359|319924|319932|319934|319938|319939|319956|319958|491333|615893|615894|737233|902466|902467|902468|902469|902470|902471|902472|902473|902474|902475|902476|902477|902478|902479|902480|902481|902482|902483|902484|902485|902486|902487|902488|902489|902490|902491|902492|902493|902494|902495|902496|902497|902498|902499|902500|902501|902502|902503|903443|973109", + "text": "Robinow syndrome, autosomal recessive" + }, + { + "baseId": "22350", + "text": "Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals" + }, + { + "baseId": "22357", + "text": "Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly" + }, + { + "baseId": "22361|22362|22363|22364|22365|22366|22367|45610|45611|439823|439824|439825|439826|610682|971576", + "text": "Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2" + }, + { + "baseId": 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|829894|829895|829931|829932|829933|829934|829935|829936|829937|829938|829939|829940|829941|829942|829943|829944|829945|829946|829947|829951|829953|829993|829994|829995|829996|829997|829998|829999|830000|830001|830002|830003|830004|830005|830006|830007|830008|830009|830010|830011|830012|830013|830014|830015|830016|830017|830018|830019|830020|830021|830022|830023|830024|830025|830026|830027|830028|830029|830030|830031|830032|830033|830034|830035|830036|830037|830038|830039|830040|830041|830042|830043|830044|830045|830046|830047|830048|830049|830050|830051|851004|851239|851846|851882|851884|899330|899331|899332|899333|899334|899335|899336|904070|904071|923727|923728|923729|923730|923731|923737|923738|923739|923748|923771|923772|923773|923774|923775|923776|923777|923778|923779|923780|923781|923782|923783|923784|923785|923786|923787|923788|923789|923790|923791|932582|932583|932584|932585|932586|932587|932588|932589|932596|932597|932605|932606|932607|932608|932609|932610|932626|932627|932628|932629|932630|932631|932632|932633|932634|932635|932636|932637|939977|939979|940792|940794|944256|944257|944258|944259|944267|944268|944269|944270|944271|944272|944282|944283|944284|944292|944293|944294|944295|944296|944297|944298|944299|944300|944301|944302|944303|944304|944305|944306|944307|944308|944309|944310|944311|944312|944313|944314|953928|953929|953936|953937|953938|953939|953940|953941|953943|953953|953954|953955|953956|953957|953958|953959|953960|959742|959744|960548", + "text": "Idiopathic Pulmonary Fibrosis" + }, + { + "baseId": "22368", + "text": "Obesity, late-onset" + }, + { + "baseId": "22368", + "text": "Leanness, inherited" + }, + { + "baseId": "22369|22370|22371|22379|304795|304803|304805|304809|304810|304812|304815|304816|304822|304825|304829|304834|304835|304836|304837|304842|304850|304851|304853|304854|304856|304862|308527|308530|308544|308548|308554|308555|308556|308557|308559|308564|308565|308568|308572|308573|308575|308585|308586|308587|313692|313694|313695|313696|313697|313698|313710|313711|313713|313714|313715|313716|313718|313719|313724|313726|313731|313732|313733|313734|313735|313737|313739|313740|313741|313743|313744|313745|313746|313747|313750|313751|313754|313759|313778|313780|313781|313783|313784|313792|313796|313797|313798|313836|313837|313850|313860|612353|700520|700521|736582|899264|899265|899266|899267|899268|899269|899270|899271|899272|899273|899274|899275|899276|899277|899278|899279|899280|899281|899282|899283|899284|899285|899286|899287|899288|899289|899290|899291|899292|899293|899294|899295|899296|899297|899298|899299|899300|899301|899302|899303|899304|899305|899306|899307|899308|899309|899310|899311|899312|899313|899314|899315|899316|899317|899318|899319|899320|899321|899322|899323|899324|899325|899326|899327|899328|899329|900465|900466|900467|900468", + "text": "Alopecia universalis congenita" + }, + { + "baseId": "22369|22372|22373|22374|22375|22376|22377|22378|304795|304803|304805|304809|304810|304812|304815|304816|304822|304825|304829|304834|304835|304836|304837|304842|304850|304851|304853|304854|304856|304862|304863|308527|308530|308544|308548|308554|308555|308556|308557|308559|308564|308565|308568|308572|308573|308575|308585|308586|308587|313665|313692|313694|313695|313696|313697|313698|313710|313711|313713|313714|313715|313716|313718|313719|313724|313726|313731|313732|313733|313734|313735|313737|313739|313740|313741|313743|313744|313745|313746|313747|313750|313751|313754|313759|313778|313780|313781|313783|313784|313792|313796|313797|313798|313836|313837|313850|313860|654506|700520|700521|736582|899264|899265|899266|899267|899268|899269|899270|899271|899272|899273|899274|899275|899276|899277|899278|899279|899280|899281|899282|899283|899284|899285|899286|899287|899288|899289|899290|899291|899292|899293|899294|899295|899296|899297|899298|899299|899300|899301|899302|899303|899304|899305|899306|899307|899308|899309|899310|899311|899312|899313|899314|899315|899316|899317|899318|899319|899320|899321|899322|899323|899324|899325|899326|899327|899328|899329|900465|900466|900467|900468", + "text": "Atrichia with papular lesions" + }, + { + "baseId": "22380|22381|22382|22383|818633", + "text": "Hypotrichosis 4" + }, + { + "baseId": "22384|22385|22386|22387|142565|142566|244408|269524|288615|288616|288620|288624|288628|288634|288637|288644|288645|288656|288658|288662|289365|289370|289371|289372|289373|289375|289386|289388|289391|292394|292396|292397|292403|292511|292525|292532|292548|292549|292550|367198|452185|452187|452188|518897|518922|518926|558820|650966|691299|787237|819321|827518|827519|827520|827521|851532|887874|887875|887876|887877|887878|887879|887880|887881|887882|887883|887884|887885|887886|887887|887888|887889|887890|887891|887892|887893|891559|931756|931757|943318", + "text": "Charcot-Marie-Tooth disease type 2B" + }, + { + "baseId": "22388|39220|133852|133853|181423|206566|207426|207428|207430|207434|207436|215351|264224|363707|369109|369110|369361|395251|428635|428641|444025|444026|456170|456174|456179|456182|456491|456862|513289|513571|522659|522660|552110|552111|561109|561163|561165|566164|635330|635331|635332|635333|683822|683823|683825|683826|683827|686920|686924|686925|722187|787488|792762|832621|832622|832623|924526|933545|954941|961608|970220", + "text": "Spastic paraplegia 50, autosomal recessive" + }, + { + "baseId": "22389|22391|22392|101394|101395|101396|106460|192441|192442|253281|267710|272609|273091|273579|306568|306569|306571|306588|306590|306595|310775|310776|310777|310785|310786|310787|310798|310799|316171|316186|316187|316188|316191|316195|316510|316511|316514|316521|316523|316524|316525|370178|444336|444336|524469|622890|790832|802167|835419|900918|900919|900920|900921|900922|900923|900924|900925|900926|900927|900928|900929|900930|900931|900932|900933|900934|900935|900936|900937|900938|900939|900940|900941|900942", + "text": "Sarcotubular myopathy" + }, + { + "baseId": "22389|22390|22391|101394|101395|101396|106460|192441|192442|253281|267710|272609|273579|306568|306569|306571|306588|306590|306595|310775|310776|310777|310785|310786|310787|310798|310799|316171|316186|316187|316188|316191|316195|316510|316511|316514|316521|316523|316524|316525|370178|444336|444336|524469|835419|900918|900919|900920|900921|900922|900923|900924|900925|900926|900927|900928|900929|900930|900931|900932|900933|900934|900935|900936|900937|900938|900939|900940|900941|900942", + "text": "Bardet-Biedl syndrome 11" + }, + { + "baseId": "22393|22394|22395|312859|312860|312862|312863|312876|312878|312879|312881|312882|312883|312887|312888|312896|312898|312902|312903|312907|312912|312913|312922|312926|312927|312937|318900|318902|318904|318905|318907|318908|318917|318919|318922|318933|318935|318947|318948|318954|318958|318959|318962|325013|325034|325035|325037|325040|325041|325042|325046|325071|325074|325076|325079|325080|325081|325083|325086|325087|325089|325090|325882|325886|325887|325890|325894|325895|325897|325906|325909|325910|325929|325936|325943|325948|325949|325950|325953|325960|626203|665819|737820|799637|867380|867381|867382|867383|867384|867385|867386|867387|867388|867389|867390|867391|867392|867393|867394|867395|867396|867397|867398|867399|867400|867401|867402|867403|867404|867405|867406|867407|867408|867409|867410|867411|867412|867413|867414|867415|867416|867417|867418|867419|867420|867421|867422|867423|867424|867425|867426|867427|868612|904265|904266", + "text": "Lathosterolosis" + }, + { + "baseId": "22396|22397|22398|22399|22400|22401|22402|22403|22404|105554|816462|920518", + "text": "Retinitis pigmentosa 14" + }, + { + "baseId": "22399|39216|39217|39218|39219|100027|100028|105550|105553|105554|105560|105564|193520|271102|271577|299937|299938|299942|302589|302593|302609|302611|302612|302613|302615|306990|306991|307242|307249|307250|307256|699561|710472|777634|816462|818245|831882|831890|856426|856434|895866|895867|895868|895869|895870|895871|895872|895873|895874|895875|895876|895877|896235|896236|919026|919027|919028|920229|966095|966096|966097|966098|966099|966100", + "text": "Leber congenital amaurosis 15" + }, + { + "baseId": "22406|22407|101056|495560|791393|966544", + "text": "Oculopharyngeal muscular dystrophy" + }, + { + "baseId": "22408|106448", + "text": "Retinitis pigmentosa 48" + }, + { + "baseId": "22409|22410|22411|22411|22412|22413|22414|99446|99447|99448|99449|99450|143105|143106|143107|143108|143109|143110|143112|143114|143115|143116|143118|169438|169439|169440|169441|169442|169443|169444|169445|169446|169447|169449|169451|169452|169453|177163|177295|177427|178096|178394|200996|203502|203505|203508|203518|205021|205790|208455|208456|208457|208458|208460|209339|213650|225863|237502|237503|266254|331713|331715|331717|331719|331720|331724|331725|331731|331737|331742|331747|331754|331759|331760|331761|331763|331766|341962|341963|341965|341971|341975|341976|341979|341983|341989|341993|341995|341998|342000|342002|342004|342009|342011|342016|342018|342020|342022|342024|342031|342036|342039|342041|342043|342047|342049|342054|342056|347351|347352|347355|347356|347359|347366|347367|347368|347375|347377|347382|347393|347397|347400|347401|347404|347410|347412|347413|347417|347424|347425|347428|348685|348686|348689|348690|348691|348692|348693|348697|348698|348699|348711|348714|348720|348728|348729|348734|348735|348739|348744|348747|348753|348754|348761|348764|361036|361037|362183|362449|377104|377112|379073|422225|424667|425225|426274|430066|430067|430070|430073|445989|468073|468078|468082|468083|468996|468997|469003|469004|469006|469009|469412|469413|469578|469825|469826|469828|469831|469840|482178|506356|506369|506983|506992|532342|532346|532777|532783|536070|538249|538250|538251|539083|551328|551794|552210|552211|552212|553397|570240|570243|571970|571976|571980|571982|572665|572666|572668|572671|574764|574765|574766|574767|574768|580316|580319|580542|611428|614614|647325|647326|647327|647328|647329|647330|647331|647332|647333|647334|652892|653096|653375|653895|653987|678075|683147|688917|688918|695794|704625|741408|772214|791868|791869|791870|791871|791872|798737|816346|816367|821192|821193|822142|822143|822144|822278|846929|846930|846931|846932|846933|846934|846935|846936|846937|846938|846939|846940|846941|851775|851777|852279|852936|879416|879417|879418|879419|879420|879421|879422|879423|879424|879425|879426|879427|879428|879429|879430|879431|879432|879433|879434|879435|879436|879437|879438|879439|879440|879441|879442|879443|879444|879445|879446|879447|879448|879449|879450|879451|879452|879453|879454|879455|879456|879457|879458|879459|879460|879461|879462|879463|879464|879465|879466|879467|879468|879469|879470|906145|919801|919802|920392|928734|928735|938465|938466|938467|938468|938469|950553|950554|950555|950556|950557|950558|950559|950560|950561|960271|964055|964733|966168|971104|971105", + "text": "Pitt-Hopkins syndrome" + }, + { + "baseId": "22409|202822|264918|354023|361128|361131|361133|361138|361143|361144|361151|361154", + "text": "Severe intellectual deficiency" + }, + { + "baseId": "22411|200754|539083|551329|553397|611428|816346", + "text": "Corneal dystrophy, Fuchs endothelial, 3" + }, + { + "baseId": "22415|22416|22417|22418|39213|39214|39215|193573|201786|201793|201794|201795|263762|263763|263764|263765|263766|263767|263768|263769|263770|263771|263772|263773|406463|443637|446885|798547|980915", + "text": "Epilepsy, progressive myoclonic 4, with or without renal failure" + }, + { + "baseId": "22419", + "text": "Nephropathy with pretibial epidermolysis bullosa and deafness" + }, + { + "baseId": "22420|22421|22423|22424|22425|22426|22427|22429|22430|34607|34608|34609|34610|34611|34612|34613|34614|34615|34616|34618|34619|34620|34621|34622|34623|34624|34625|34626|34627|34628|34630|34631|34632|34633|34634|34635|34636|34638|34639|34639|34640|34641|34643|34644|34645|34646|34647|34648|34649|34650|34651|34652|34653|34654|34655|34656|34657|34660|34662|34663|34664|34666|34667|34668|47702|48359|48361|51284|125784|134783|134788|134789|191609|191609|203703|203724|203728|203729|203736|203783|203792|203794|203801|203802|208704|217258|217261|217263|227922|264761|266263|267975|353967|353968|353969|353970|353972|353973|353975|353980|353982|353985|353987|353989|353990|353991|353992|353993|353995|353997|353998|353999|354003|354018|354019|354024|354027|354028|354030|354032|354033|354034|354035|354036|354037|354038|354040|354043|361690|361908|410821|415696|424618|426351|446292|470987|481405|511018|533610|551748|614476|679939|791995|791996|791997|791998|791999|792000|792001|802031|802032|802034|802035|802037|806441|917741|964536|964537|964543|965428|965444|966804|983655", + "text": "Benign familial neonatal seizures 1" + }, + { + "baseId": "22425|22430", + "text": "Seizures, benign familial neonatal, 1, and/or myokymia" + }, + { + "baseId": "22427|22428|22431|34261|34262|34263|34264|34265|34266|34267|34269|34659|134793|134794|134795|134796|141743|141752|141753|141754|141755|191041|191676|202143|202149|202151|202156|202158|202160|202165|202168|202170|202171|202173|202174|202181|207503|240232|304135|304149|304150|304163|304164|304178|304180|304181|304182|304186|304187|304188|304189|304194|304200|304205|304206|304211|304217|304218|304222|304226|304229|304230|304235|304242|304243|304244|304260|304261|304263|304264|304265|307750|307761|307788|307793|307795|307810|307824|307837|307838|307839|307852|307853|307854|307861|307862|307863|307864|307867|307871|307883|307884|307886|307887|307891|307898|307919|312763|312782|312806|312807|312809|312817|312819|312820|312821|312827|312837|312838|312850|312856|312870|312880|312889|312890|312891|312894|312895|312906|312908|312909|312910|312911|312914|312915|312918|312919|312920|312921|312923|312925|312928|312929|312935|312939|312940|312942|312944|312945|312946|312947|312948|312949|312952|312957|312958|312960|312974|312975|312978|312979|312980|312981|312984|312990|312998|313007|313009|313012|313013|313026|313027|313028|313040|359883|371534|407314|421658|444213|486747|564635|564638|614317|636596|636600|692350|722848|898823|898824|898825|898826|898827|898828|898829|898830|898831|898832|898833|898834|898835|898836|898837|898838|898839|898840|898841|898842|898843|898844|898845|898846|898847|898848|898849|898850|898851|898852|898853|898854|898855|898856|898857|898858|898859|898860|898861|898862|898863|898864|898865|898866|898867|898868|898869|898870|898871|898872|898873|898874|898875|898876|898877|898878|898879|898880|898881|898882|898883|898884|898885|898886|898887|898888|898889|898890|898891|898892|898893|898894|898895|898896|898897|898898|898899|898900|900439|900440|900441|919140|964298", + "text": "Benign familial neonatal seizures 2" + }, + { + "baseId": "22427|22428|22429|22430|22430|34611|34639|34644|34647|34661|48359|48359|48360|48361|125784|125784|134777|134789|141729|177432|191609|195052|195445|198642|203703|203721|203722|203723|203724|203724|203725|203726|203727|203728|203736|203759|203764|203771|203772|203788|203792|203794|203795|203798|208704|208705|213659|217256|217257|217258|217258|217259|217260|217262|260235|264902|265110|267975|271459|350374|353971|353976|353977|353978|353981|353983|353984|353986|353988|353994|353996|354000|354001|354002|354004|354005|354006|354007|354008|354009|354010|354011|354012|354013|354014|354015|354016|354017|354020|354021|354022|354023|354025|354026|354029|354031|361066|361235|361236|404202|422344|424618|424618|426351|426752|431924|446292|470987|481406|486771|486772|486773|486774|511019|533610|553187|571338|572967|608865|614476|624870|679811|788941|791995|798003|800409|802033|802036|802038|806441|858357|858380|919924|919925|919926|929248|964538|964539|964540|964541|964542|964695|964696|965428|966804|970531|971152", + "text": "Early infantile epileptic encephalopathy 7" + }, + { + "baseId": "22432|22433|22434|22435|22440|22441|22443|22447|137040|231232|411012|495884|508964|535274|538261|538262|538263|538264|538265|538266|538267|538268|538269|538269|538270|538271|538272|538273|792588|805120|860727|919953|971160", + "text": "Waardenburg syndrome type 4C" + }, + { + "baseId": "22436|22444|22445|22446|39210|39211|76394", + "text": "Waardenburg syndrome type 2E, without neurologic involvement" + }, + { + "baseId": "22437|22438|22439|22442|22450|22451|137039|231226|231227|231228|231231|231235|347741|347742|347749|351585|351588|351589|351593|351594|351597|351600|351602|352543|352544|352545|352546|352547|352548|446415|508172|538269|694737|742898|805120|861057|891282|891283|891284|891285|891286|891287|891288|891289|891290|891291|891292|891293|891294|891295|903682|903690|964553|974884", + "text": "Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease" + }, + { + "baseId": "22441|22448|22449", + "text": "Waardenburg syndrome type 2E, with neurologic involvement" + }, + { + "baseId": "22452|23717", + "text": "sulfonamides, urea derivatives response - Efficacy" + }, + { + "baseId": "22455|22456|22457|22460|22460|22461|22464|105481|105486|105486|105489|105493|105493|105494|105494|105496|105497|105497|105502|105506|105506|105507|105510|105513|188197|215730|238089|270141|271292|333928|333931|333934|333935|333938|333939|333943|333946|333950|333952|333970|333971|333974|333976|333986|333988|333989|333990|333994|333995|333998|334000|343880|343880|343881|343881|343884|343893|343895|343896|343898|343903|343904|343907|343908|343912|343917|343918|343925|343926|343928|343929|343931|343933|349187|349190|349193|349195|349199|349202|349205|349207|349208|349210|349211|349212|349215|349218|349221|349222|349224|349225|349226|350102|350103|350106|350108|350110|350114|350116|350118|350119|350123|350124|350126|350127|350130|350133|350138|350143|350146|350147|350150|350155|350160|350165|350166|350168|359518|410641|413526|626259|705132|742013|776742|791942|818340|821268|821269|821270|821271|821272|847784|847785|847786|847787|847788|847789|852339|860591|882225|882226|882227|882228|882229|882230|882231|882232|882232|882233|882234|882235|882236|882237|882238|882239|882240|882241|882242|882243|882244|882245|882246|882247|882248|882249|882250|882251|882252|882253|882254|882255|882256|882257|882258|882259|929002|929003|929004|938740|938741|938742|938743|938744|938745|950831|950832|950833|958671|958672|960295|960923|965936", + "text": "Cone-rod dystrophy 2" + }, + { + "baseId": "22458|22459|22460|22461|22461|76522|105481|105486|105486|105489|105493|105493|105494|105494|105496|105497|105497|105500|105502|105506|105506|105510|105513|189101|213655|215730|238089|270141|271292|333928|333931|333934|333935|333938|333939|333943|333946|333950|333952|333970|333971|333974|333976|333986|333988|333989|333990|333994|333995|333998|334000|343880|343880|343881|343881|343884|343893|343895|343896|343898|343903|343904|343907|343908|343912|343917|343918|343925|343926|343928|343929|343931|343933|349187|349190|349193|349195|349199|349202|349205|349207|349208|349210|349211|349212|349215|349218|349221|349222|349224|349225|349226|350102|350103|350106|350108|350110|350114|350116|350118|350119|350123|350124|350126|350127|350130|350133|350138|350143|350146|350147|350150|350155|350160|350165|350166|350168|410641|413526|590333|705132|742013|776742|791942|821268|821269|821270|821271|821272|847784|847785|847786|847787|847788|847789|852339|860591|882225|882226|882227|882228|882229|882230|882231|882232|882232|882233|882234|882235|882236|882237|882238|882239|882240|882241|882242|882243|882244|882245|882246|882247|882248|882249|882250|882251|882252|882253|882254|882255|882256|882257|882258|882259|904208|929002|929003|929004|938740|938741|938742|938743|938744|938745|950831|950832|950833|958671|958672|960295|960923|962229|962230|962231|962232|962233|962234|962235|962236|962237|962238", + "text": "Leber congenital amaurosis 7" + }, + { + "baseId": "22465|22466|22467|22468|22469|22470|22472|22473|22474|22475|22476|192348|204430|215517|216957|226088|226089|255786|255790|255796|255798|272359|325616|335246|335255|335258|335283|341726|341737|341772|343237|414718|513634|681810|703733|798700|818326|818327|818328|818329|919661|961625|962178|970546|971544", + "text": "Townes-Brocks syndrome 1" + }, + { + "baseId": "22467|22473|192351|215517|215518|216957|237343|255791|255792|255793|255795|255796|255798|255800|255801|255802|266326|271828|272359|325638|335268|335283|343247|409645|415497|465770|466492|466495|529570|530025|530030|530032|530183|530347|574086|644745|644746|644747|693890|693892|843963|843964|927848|937484|937485", + "text": "Townes syndrome" + }, + { + "baseId": "22471|22473", + "text": "Townes-Brocks-branchiootorenal-like syndrome" + }, + { + "baseId": "22477|22478|22479|22480|22481|22482|22483|22484|22485|22486|22488|22490|22492|22497|22498|22499|22500|99004|99006|133154|133155|133156|133157|133158|133160|133161|133162|133163|133164|133165|133166|133167|133168|139016|139017|139626|139627|139628|139629|139630|139631|139632|139633|139634|139635|139636|139637|139638|139639|139640|139641|139642|139643|143033|143034|143035|143036|143037|143038|143039|143040|143041|143042|143043|143044|150700|150718|150732|150787|150803|150842|150842|150870|150906|150912|150982|151001|151008|151068|151068|151222|151438|151511|151529|151563|151565|151566|151600|151616|151636|151668|151676|151705|151748|151766|151829|151862|151900|151912|151912|151937|151997|152003|152006|152018|152031|152033|152091|152096|152098|152108|152118|152124|152157|152197|152251|152355|152410|152427|152457|152512|152585|152605|152653|152707|166279|181044|181047|181048|181049|181051|181052|181055|181057|181060|181061|181062|181063|181064|181065|181065|181066|181068|181068|181069|181071|181073|181075|181076|181077|181078|181079|181080|181081|181082|181083|181084|185460|185461|185462|185463|185464|185467|185471|185472|185474|185475|185476|185477|185478|185481|185482|185485|185487|185488|185489|185490|185492|185493|185494|185495|185496|185497|185498|185501|185503|185504|185505|185506|185509|185510|185511|185512|185513|185515|185516|185517|185518|185520|185522|185524|185525|185526|185527|185529|185530|185531|185532|185533|185534|185535|185537|185538|185539|185540|185541|185543|185544|185546|185547|185548|185549|185550|185551|185552|185553|185557|185558|185560|185561|185562|185563|186283|190028|190029|190030|195893|213428|213429|213430|213431|213432|213433|213434|213435|213436|213437|213438|213440|213441|213442|213443|213444|213445|213446|213447|213448|222781|222782|222783|222784|222785|222786|222787|222788|222789|222790|222792|222793|222794|222795|222796|222797|222798|222799|222800|222800|222801|232070|232074|232075|232077|232080|232082|232083|232084|232085|232088|236551|236553|236555|236556|236560|236561|236563|236565|236566|236571|236572|236575|236576|236577|236581|236582|236583|237751|243080|243286|243287|243288|243289|243290|243291|243293|243294|243295|243296|243297|243298|243299|243300|243301|243302|243303|243305|243306|243307|243308|243309|243310|245122|248540|248740|249194|256773|256774|260207|262411|264827|332542|332545|332546|332555|332558|332561|332567|332569|332571|332574|332582|332583|332586|332587|332588|332590|332591|332594|332596|332603|332604|332606|332609|342770|342776|342777|342780|342781|342782|342783|342786|342788|342797|342803|342811|342812|348114|348118|348120|348124|348126|349367|349368|349371|349372|349375|358970|358971|358972|358973|358974|358975|358976|358977|358978|360512|362212|363213|363216|363587|363620|363622|363623|363624|376148|376156|376162|377091|377097|377140|377154|377158|377277|377286|377287|377313|379206|379207|379215|379222|379229|379238|402826|402833|403156|403157|403158|403165|403169|403172|403173|403175|403178|403179|403181|403182|403183|403186|403187|403188|403190|403192|403193|403194|403196|403198|403207|403218|403220|403223|403225|403225|403229|403231|403243|403244|403365|403613|403621|403622|403627|403630|403631|403632|403634|403640|403641|403644|403645|403648|403649|403651|403655|403656|403657|403658|403659|403660|403675|403677|403687|410439|410440|410441|410443|410447|410448|410454|410457|410458|410460|410461|410462|410463|410466|410468|420685|420690|420691|420695|420699|420706|420710|420711|420719|420720|420726|420728|432946|432948|432949|432950|432951|432952|434508|439636|468443|468449|468455|468456|468458|468464|468466|468468|468477|468479|468481|468486|468488|468491|469084|469315|469333|469340|469345|469346|469350|469353|469354|469357|469362|469366|469376|469377|469384|469386|469392|469393|469396|469455|469748|469751|469756|469762|469765|469767|469776|469778|469780|469788|469789|469794|469805|469808|470369|470371|470382|470383|470386|470387|470394|470396|470399|470405|470411|470415|470419|470421|470426|470429|470432|479736|479738|479740|479760|479764|479776|479778|479799|479801|479802|479809|479810|479816|479834|479836|479840|479870|479879|480283|480284|480288|480291|480296|480298|483063|483074|483082|483098|483100|485262|485277|485292|485426|485458|485462|485481|485557|488038|495509|506719|532356|532388|532660|532661|532662|532665|532669|532673|532674|532675|532677|532680|532682|532683|532684|532685|532686|532687|532688|532689|532690|532692|532693|532695|532697|532698|532699|532701|532703|532704|532706|532709|532712|532713|532714|532720|532726|532735|532736|532738|533090|533092|533098|533102|533112|533113|533118|533123|533125|539385|539386|539387|539388|539389|539390|539391|570478|570482|570484|570486|570488|570489|570490|570493|570499|570500|570505|570507|572181|572183|572185|572188|572190|572194|572197|572198|572206|572207|572209|572211|572213|572215|572702|572703|572704|572710|572891|572892|572895|572902|572903|572905|572906|572907|572908|572909|573453|574864|574865|574866|574867|574872|574873|575072|575073|576036|576037|576038|576039|576040|576041|611263|611264|618974|618984|618986|618988|618991|619002|619902|621627|621628|647652|647653|647654|647655|647656|647657|647658|647659|647660|647661|647662|647663|647664|647665|647666|647667|647668|647669|647670|647671|647672|647673|647674|647675|647676|647677|647678|647679|647680|647681|647682|647683|647684|647685|647686|647687|647688|647689|647690|647691|647692|647693|647694|647695|653010|653144|653447|653488|653565|653566|653569|653571|677385|684780|694329|694330|756706|760751|772382|772386|772394|776535|776832|786045|786047|786048|786051|788247|791888|791889|791890|791891|791892|791893|814839|814840|814852|814869|814889|814898|814901|814914|814918|821232|821233|821234|821235|821236|821237|821238|821302|821303|847235|847236|847237|847238|847239|847240|847241|847242|847243|847244|847245|847246|847247|847248|847249|847250|847251|847252|847253|847254|847255|847256|847257|847258|847259|847260|847261|847262|847263|847264|847265|847266|847267|847268|847269|847270|847271|847272|847273|847274|847275|847276|847277|847278|851840|852846|852850|852852|852897|852949|852956|852958|879907|879908|879909|879910|879911|879912|879913|879914|879915|879916|879917|879918|879919|879920|879921|879922|879923|879924|879925|879926|879927|879928|879929|879930|879931|879932|879933|879934|879935|879936|879937|879938|879939|879940|879941|879942|879943|879944|879945|914829|914836|914837|914850|928827|928828|928829|928830|928831|928832|928833|928834|928835|928836|928837|928838|928839|928840|938565|938566|938567|938568|938569|938570|938571|938572|938573|938574|938575|940468|940469|941224|950662|950663|950664|950665|950666|950667|950668|950669|958529|958530|958531|958532|960281|960282|960913|967214|967215|970099|972604|983468", + "text": "Peutz-Jeghers syndrome" + }, + { + "baseId": "22487|39318|150842|151068|151912|181065|181068|222800|239444|239474|239498|394098|394101|394222|394336|394339|403225|453508|453809|453899|563999", + "text": "Malignant tumor of testis" + }, + { + "baseId": "22489|22494|22495|22496", + "text": "Cutaneous malignant melanoma 1" + }, + { + "baseId": "22489|22875|22876|22877|24448|24451|27639|28695|28895|28899|28902|28904|28905|28938|28939|28940|29000|29005|29007|29008|29009|29011|29013|29346|31968|32617|32621|32625|32627|32628|38747|48247|48837|48858|48859|48938|48939|48940|48941|49070|49214|49216|49251|53979|53980|53982|53983|83949|85317|85318|87578|88528|97376|172332|174042|174177|174179|179094|198628|216786|224866|263939|359197|359643|362750|362751|362752|362753|362754|362755|362756|362773|362774|362783|362784|362785|362786|362787|362788|362789|362790|362791|362792|362793|362794|362795|362796|362797|362798|362800|362801|362802|362803|362806|362807|362809|362810|362811|362812|362818|362819|362820|362821|362822|362823|362824|362825|362826|362827|362834|362835|362836|362856|362857|362858|362859|362860|362861|362862|362863|362880|362881|362906|362907|362933|362936|362948|362949|362950|362951|362952|362953|363047|363048|363049|363050|363051|363052|363053|363054|363055|363056|363057|363058|363059|363060|363061|363062|363063|363064|363065|363099|363102|363103|363104|363105|363106|363108|363119|363135|363162|363163|363164|363165|363166|363167|363168|363169|363174|363236|363237|363241|407660|514029", + "text": "Melanoma" + }, + { + "baseId": "22501|22502|22503|22504|22505|22506|22507|22509|39207|39208|39209|49907|134762|134763|134764|141684|141685|192326|192326|201048|201049|201049|201051|201052|201053|201054|201055|201055|201057|201057|201058|201060|201061|201062|206727|238152|238153|266314|271776|276764|276765|276766|276771|276772|276775|276777|276778|276779|276780|276787|276788|277031|277033|277034|277037|277043|277044|277057|277064|277070|277071|277073|277614|277615|277617|277626|277643|277669|277676|277681|277683|277684|277687|277768|277769|277772|277774|277775|277778|277779|277782|364480|364538|364563|364622|390841|390845|390846|390848|427657|442645|447211|447215|447318|447394|498080|515169|515169|515172|515212|556707|556709|556711|558176|626984|626985|626986|626987|626988|626989|822879|822880|822881|822882|822883|822884|822885|822886|822887|862502|862503|862504|862505|862506|862507|862508|862509|862510|862511|862512|862513|862514|862515|862516|862517|862518|862519|862520|862521|862522|862523|862524|862525|862526|862527|862528|862529|862530|862531|862532|862533|862534|862535|921691|921692|921693|921694|921695|930099|930100|941518|941519|941520|941521|941522|952115|964133", + "text": "EAST syndrome" + }, + { + "baseId": "22501|263305|440711|980561", + "text": "Spastic diplegia" + }, + { + "baseId": "22501|32043|32043|178258|263276|361233|362233|514116|622035|678050|966399|971381", + "text": "Bilateral sensorineural hearing impairment" + }, + { + "baseId": "22501", + "text": "Renal tubular dysfunction" + }, + { + "baseId": "22509|206727", + "text": "KCNJ10-Related Disorders" + }, + { + "baseId": "22510|22511|22512|22514|22515|22516|224659|224660|224661|224662|224663|224664|578361|918554", + "text": "Lipid proteinosis" + }, + { + "baseId": "22517|22518|22519|22521|22522|22523|167391|190380|212614|212614|213813|213814|221739|240172|240173|244506|252932|252933|252934|303433|303434|306832|306834|311679|311681|369273|369610|369611|369980|371362|396034|396139|396419|396422|407258|425764|433611|441143|441144|441146|444162|456919|456922|456923|456925|457448|457451|457455|457590|457593|457917|457918|457923|495216|502159|513581|522263|522820|522826|522828|522834|523065|523269|523374|561763|562170|562179|564415|566151|566153|609669|636336|636337|636338|636339|636340|636341|636342|636343|655804|683935|687114|689885|722659|766403|775277|782931|819916|819917|833835|833836|833837|833838|833839|833840|833841|833842|833843|833844|833845|833846|851658|898405|898406|898407|898408|898409|898410|898411|898412|900402|904502|924904|924905|924906|924907|924908|933993|933994|933995|933996|933997|933998|933999|945758|945759|945760|945761|945762|955216|962980", + "text": "Charcot-Marie-Tooth disease axonal type 2F" + }, + { + "baseId": "22517|22518|22519|22520|22522|22523|22524|190380|212614|212614|240172|252932|252933|252934|303433|303434|306832|306834|311679|311681|369610|371362|407258|441143|441144|522820|522828|540450|551460|551461|551462|655804|687114|898405|898406|898407|898408|898409|898410|898411|898412|900402|945761", + "text": "Distal hereditary motor neuronopathy type 2B" + }, + { + "baseId": "22525", + "text": "Age-related macular degeneration 7" + }, + { + "baseId": "22525", + "text": "Susceptibility to neovascular type of age-related macular degeneration" + }, + { + "baseId": "22526|22527|22528|22529|34176|34177|34178|39200|165895|165896|165897|165898|165899|320969|550880|858653", + "text": "CARASIL" + }, + { + "baseId": "22526", + "text": "HTRA1-related cerebral small vessel disease" + }, + { + "baseId": "22527|263239|514161|514195|514201|789341|789342|789343|802096|806288|904354", + "text": "Cognitive impairment" + }, + { + "baseId": "22527", + "text": "Personality changes" + }, + { + "baseId": "22527", + "text": "Small vessel cerebrovascular disease" + }, + { + "baseId": "22527|222926|222927|222928|222929|514223|514224|514225|514226|514227|514228|514229|964340|965880", + "text": "Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2" + }, + { + "baseId": "22530|22531|22532|513210", + "text": "Spondylo-megaepiphyseal-metaphyseal dysplasia" + }, + { + "baseId": "22534|22535|45735|138608|138610|236946|452155|452531|519195|519196|519197|519333|519341|519344|559451|559453|631265|631266|631267|720421|730212|748220|827979|827980|918162|943503|943504|943505", + "text": "Myd88 deficiency" + }, + { + "baseId": "22536|39199|136176|136177|136178|194374|205776|205777|208144|215733|265482|270785|321956|321958|331256|338053|338054|373322|445266|463934|513639|528556|528946|528947|528950|610618|620501|626234|652631|789128|873027|873028|873029|873030|873031|873032|873033|873034|876469|876470|983844", + "text": "Pontocerebellar hypoplasia type 1A" + }, + { + "baseId": "22536|48180|360506|621025|622148", + "text": "Multiple congenital anomalies" + }, + { + "baseId": "22536|39199|136176|136178|191026|194374|205777|208144|215733|265482|268654|270785|321956|331256|338053|373322|409180|445264|445265|445266|464502|512107|528555|528952|566825|566833|566842|566850|566852|567774|568542|568545|569167|569178|569181|569183|573104|573106|610618|642970|642971|642972|642973|642974|642975|642976|642977|642978|642979|642980|642981|642982|652369|652569|652631|652900|693634|695634|714299|754258|820662|820663|842067|842068|842069|842070|842071|842072|842073|842074|842075|842076|842077|852025|852027|927247|927248|927249|927250|927251|936828|940320|941078|948775|948776|948777|948778|957361|957362|957363|957364|957365|960101|960816|979553|979554|979555|979556|979557|979558", + "text": "Pontocerebellar hypoplasia type 1" + }, + { + "baseId": "22536|70511|136139|136140|171752|194356|315006|440896|454067|487068|487069|521591|563203|564114|576821|576823|621743|621744|621745|622790|625212|633999|651260|788956|819603|861397|904360|916957|917447|974495", + "text": "Spinal muscular atrophy" + }, + { + "baseId": "22537|22538|22539|54162|54163|54164|54165|54166|54168|54169|175943|175944|175945|175946|175948|176086|176089|176092|190836|227360|230541|321447|321453|321456|321458|321464|330711|330712|330713|330714|330716|330717|330723|330724|330725|337342|337344|337351|337352|337356|337357|337377|339371|339379|339386|339389|339391|339392|339398|339399|339401|339407|389245|389246|625876|857685|860125|872698|872699|872700|872701|872702|872703|872704|872705|872706|872707|872708|872709|872710|872711|872712|872713|872714|872715|876453", + "text": "Deafness, autosomal recessive 35" + }, + { + "baseId": "22542", + "text": "Waardenburg syndrome type 2D" + }, + { + "baseId": "22543|28882|28883|28884|28886|28887|28888|28889|28890|28900|28903|50038|50039|50040|50043|50045|138360|138368|171097|171098|221464|221466|221467|221469|221471|221472|221473|221474|227193|239444|239444|239458|239464|239467|239471|239474|239477|239482|239488|239491|239495|239497|239498|251500|251502|251504|251505|293581|293582|293587|293588|293595|293596|293612|295032|295038|295039|295040|298678|298679|298680|298681|298683|298688|298703|298704|298711|305476|305477|305481|309352|309358|309359|309361|314683|314684|314685|314686|314691|314692|314693|314697|314698|314703|380482|394068|394077|394098|394105|394222|394334|394336|394339|394469|394518|394541|453445|453508|453809|453899|520120|520401|562207|563999|723133|829329|890761|890762|890763|890764|890765|890766|890767|890768|890769|890770|890771|890772|890773|890774|890775|890776|890777|890778|890779|890780|890781|890782|890783|891800|899736|899737|899738|899739|899740|899741|899742|899743|899744|899745|899746|899747|899748|899749", + "text": "Partial albinism" + }, + { + "baseId": "22544|28028|39430|45846|255586|514055|918921|966695|966696|971020", + "text": "Clubfoot" + }, + { + "baseId": "22545|22546|22547|22548|22549|33483|187106|249570|249571|249572|277487|277488|277490|277495|277502|277503|277679|277680|277690|277697|277699|278575|278576|278580|278584|278585|278594|278598|278605|278612|278613|278625|278626|278627|278631|278659|278662|434564|789888|789889|789890|862853|862854|862855|862856|862857|862858|862859|862860|862861|862862|862863|862864|862865|862866|862867|862868|918581|964136", + "text": "Short stature-pituitary and cerebellar defects-small sella turcica syndrome" + }, + { + "baseId": "22550|22551|22552|22553|48432|48433|48434|439278|905865", + "text": "Mitochondrial complex 1 deficiency, nuclear type 2" + }, + { + "baseId": "22554|211110|211112|966197", + "text": "Mitochondrial complex 1 deficiency, nuclear type 13" + }, + { + "baseId": "22555|22555|22555|22556|22556|22557|22558|22558|22558|22559|99009|99009|99011|99012|99013|99015|99016|99018|99019|101774|135328|135331|177929|177930|177936|186748|186748|186749|186750|186751|186751|186752|186753|186754|186754|186755|186755|186756|186757|186758|186758|186759|186760|191498|191766|191767|192238|194834|194835|194836|199789|199789|214067|214069|214069|226052|226052|237007|247025|252970|252971|252973|252974|252975|252976|252977|259881|259881|266955|267046|267626|268098|268900|269237|269239|270884|271229|271283|271739|272009|272261|272493|272694|272943|272958|275143|275486|275498|275801|276002|276868|276869|277804|277840|280468|281942|286884|286896|286909|289994|290437|299206|299218|299221|300174|300188|300204|301634|301635|303571|303581|303582|303594|303595|303600|303601|303608|303609|305891|305934|305935|307015|307021|307023|307030|307033|307057|307061|307062|307381|307383|307395|307601|307606|307616|309980|311933|311935|311936|311940|311960|311966|311973|311974|311975|311977|314174|315287|315317|315361|315362|315363|318465|318486|320714|320718|320719|326608|326788|326801|327733|327741|327742|332767|332829|332847|334420|334443|334498|334528|337502|337524|337540|344170|344173|344182|345578|345586|347084|347093|351119|351141|351148|353065|353190|353191|357586|357587|357588|357589|357590|357591|357592|357593|357593|357594|357595|357596|357597|357597|357598|357599|357600|357601|357602|357603|357604|357605|357606|357607|357608|357609|357610|357611|357612|357613|357614|357615|357616|357617|357618|357619|357620|357621|357622|357622|357623|357624|357625|357626|357627|357628|415115|434621|434621|481440|481442|486419|487227|489369|489389|489456|489595|489836|491365|492065|493742|494170|522268|538396|544081|544294|544295|544297|544298|544300|544307|544320|544331|544333|544341|544342|544344|544347|544355|544596|544603|544605|544608|544610|544611|544614|544617|544617|544619|544620|544621|544623|544626|544627|544628|544637|544642|544643|544644|544649|544656|544662|544664|544667|544669|544671|544675|544679|544682|544684|544691|544697|544699|544706|544711|544713|544715|544717|544723|544725|552119|564500|578463|582759|582791|585438|585607|585811|587108|587439|588430|589104|619942|619943|620279|621279|636446|636447|636448|636449|636450|636451|636452|651707|683139|711181|711182|722721|722723|736326|736327|736328|736329|750830|759661|766445|766446|766447|766448|766450|766453|766454|766455|766456|766457|766458|766459|766461|766462|766463|775279|775422|782946|782949|787566|791139|791274|791275|798917|798917|801650|801651|801652|801653|801654|801655|801656|818389|818403|819923|819924|833930|833931|833932|833933|833934|833935|833936|833937|833938|833939|833940|833941|833942|833943|833944|833945|852383|852388|852389|898497|898498|898499|898500|898501|898502|898503|898504|898505|898506|898507|898508|898509|898510|898511|898512|898513|898514|898515|898516|898517|898518|900413|900414|900415|900416|900417|900418|955250", + "text": "Peroxisome biogenesis disorder 1A (Zellweger)" + }, + { + "baseId": "22555|22555|22555|22556|22558|22558|22558|99009|186748|186751|186754|186755|186758|194834|199789|199789|214069|226052|259881|266955|271033|271283|272958|357586|357587|357588|357589|357590|357591|357593|357593|357594|357595|357596|357597|357597|357598|357599|357600|357601|357602|357603|357604|357605|357606|357607|357608|357609|357610|357611|357612|357613|357614|357615|357616|357617|357618|357619|357620|357621|357622|357622|357623|357624|357625|357626|357627|357628|434621|486419|487227|489836|493742|538396|544617|578463|582791|626312|798917|801650|801651|801652|801653|801654|801655|801656|955250", + "text": "Peroxisome biogenesis disorder 1B" + }, + { + "baseId": "22555|22555|22556|22558|22558|194834|199789|214067|214068|214069|214070|226052|226053|266955|272958|307030|357592|487227|489836|493742|538396|578463|955250", + "text": "Deafness enamel hypoplasia nail defects" + }, + { + "baseId": "22555", + "text": "Peroxisomal disorder" + }, + { + "baseId": "22555|22558|226047|281791|485898|623144|623176", + "text": "Peroxisome biogenesis disorders" + }, + { + "baseId": "22560", + "text": "Celiac disease 4" + }, + { + "baseId": "22561|22562|22563|22564|22565|22566", + "text": "Mitochondrial complex 4 deficiency, nuclear type 3" + }, + { + "baseId": "22567|54379|54381|54382|54382|54383|54383|81088|173573|173574|173577|173578|173709|173709|173711|173712|173713|173714|173714|173715|173718|173718|191802|191802|229284|229286|229286|229290|229292|229293|229294|229294|229295|270330|270875|270875|295658|295659|295668|295669|295676|295677|295682|295686|295686|295690|295693|295694|295702|295703|295708|295709|297462|297463|297469|297484|297495|297501|297502|297502|297513|297513|297515|297516|297527|297528|297529|297549|301341|301351|301368|301377|301380|301395|301522|301523|301527|301528|301536|301538|301539|301540|301542|301547|301552|301553|301553|301554|301554|301561|301561|301564|301577|301578|301578|301580|301596|413208|438303|443695|454665|454670|454670|454672|454746|454761|454764|455210|455215|455217|455226|455233|455477|455489|455498|455512|496385|496801|520821|520821|520822|520827|520836|520836|521067|521070|521087|521216|521222|521223|521223|521225|521229|521231|521233|521233|521269|521271|521279|521285|538984|560175|560177|560177|560284|560286|560286|560288|560290|560292|562894|562898|562901|564862|564863|564864|564865|564870|584463|590277|620188|633524|633525|633526|633527|633528|633529|633530|633531|633532|633533|633534|633535|633536|633537|633538|633539|633540|633541|633542|633543|677278|698878|709681|721262|749277|749278|764930|764931|775018|777433|779083|782190|782193|790520|790521|801810|816453|819562|830402|830403|830404|830405|830406|830407|830408|830409|830410|830411|830412|830413|830414|830415|830416|830417|830418|830419|830420|830421|893113|893114|893115|893116|893117|893118|893119|893120|893121|893122|893123|893124|893125|893126|893127|893128|893129|893130|893131|893131|893132|893133|893134|893135|893136|893137|893138|893139|893140|893141|896047|896048|896049|896050|896051|896052|918925|918926|918927|923904|923905|923906|923907|923908|923909|923910|923911|923912|923913|923914|923915|932748|932749|932750|932751|932752|944433|944434|944435|944436|944437|944439|944440|954062|954063|954064|954065|954066|954067", + "text": "Deafness, autosomal dominant 1" + }, + { + "baseId": "22568|22569|22572|22573|22574|190447|273149|297678|297679|297687|299869|304055|304057|304410|353705|894419|894420", + "text": "Congenital absence of salivary gland" + }, + { + "baseId": "22570|22571|22572|22573|28335|28336|28337|31393|304410|309577|314378|314379|320877|320916|320937|353705|535686|537787|537788|537789|537790|537791|537792|537793|537868|537869|576111|798979|918969", + "text": "Levy-Hollister syndrome" + }, + { + "baseId": 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+ "text": "Kabuki syndrome 1" + }, + { + "baseId": "22575|100034|100035|100036|100038|100045|100049|100052|100053|100054|100060|100062|100065|100067|100068|100072|100074|100076|100078|100080|100089|100094|100096|100097|100098|100102|100103|100107|100109|100114|100116|100117|100120|100122|100126|100127|100131|100133|100136|100137|100138|100139|100140|100142|100144|100147|100150|100156|100157|100160|138400|138403|138406|138412|138434|138436|138445|138446|138450|138456|138469|138470|138473|168899|168912|168920|168922|168925|168931|168940|168943|168944|168950|168972|168973|177403|177799|190821|191028|193121|193335|193844|193850|193943|194116|194750|195126|207954|207966|237418|254590|254592|264679|264683|264689|265730|266250|267420|268048|269630|270518|271071|273203|274276|317309|317314|317348|317349|317364|317372|317379|325115|325132|325134|325169|325170|331232|331262|331298|331304|331309|331311|331335|331343|331403|332790|359967|362446|429417|438975|462191|462194|462197|462204|462205|462207|462216|462237|462243|462482|462484|462486|462494|462498|462998|463000|463002|463004|463112|463113|463129|463130|491870|503943|512009|527175|527177|527181|527188|527189|527191|527194|527196|527197|527199|527445|527447|527735|527741|527747|527750|537909|537936|537941|537959|537990|565488|565501|565506|565511|565515|565518|565521|565526|565530|566845|566849|566858|568060|568064|568065|568067|568071|568073|568075|568084|568085|568087|571873|571878|588416|641150|641151|641152|641153|641154|641155|641156|641157|641158|641159|641160|641161|641162|641163|641164|641165|641166|641167|641168|641169|641170|641171|641172|641173|641174|641175|641176|641177|641178|641179|641180|652249|652493|652711|688000|693211|693212|693213|693215|693218|693220|702321|702322|702328|702331|702332|702336|725119|738667|738668|738675|738676|753418|769148|776063|822069|822070|822071|822072|822073|822074|839970|839971|839972|839973|839974|839975|839976|839977|839978|839979|839980|839981|839982|839983|839984|839985|839986|839987|839988|839989|839990|839991|839992|851509|852479|926642|926643|926644|926645|926646|926647|926648|926649|926650|926651|936139|936140|936141|936142|936143|936144|948047|948048|948049|948050|956891|956892|956893|960788", + "text": "Kabuki syndrome" + }, + { + "baseId": "22579|22580|22581|22582|22584|22585|76572|192330|192331|193502|195309|250474|250476|250477|267839|268065|272108|283834|284473|284474|284483|284484|284485|284487|284488|286485|490869|550897|584163|620047|719512|730097|747159|790149|883179|883180|883181|883182|883183|883184|883185|883186|883187|883188|883189|883190|883191|883192|883193|883194|883195|883196|883197|883198|883199|883200|883201|883202|883203|883204|883205|883206|887233", + "text": "Multiple epiphyseal dysplasia type 5" + }, + { + "baseId": "22581|918728|918729", + "text": "Osteoarthritis of distal interphalangeal joint" + }, + { + "baseId": "22583", + "text": "Spondyloepimetaphyseal dysplasia Matrilin-3 related" + }, + { + "baseId": "22584|250474|283829|284474|300941|308567|308577|308607|336275|345986|350356|350371|353490|353554", + "text": "Multiple Epiphyseal Dysplasia, Dominant" + }, + { + "baseId": "22586|22587|22588|22589|22590|22591|22592|251435|251436|251437|251438|251439|251440|264193|293271|293272|293273|293274|293280|293282|293283|293287|293288|293292|293296|293298|293308|293310|293311|293313|293314|293315|293330|293331|293335|293336|293337|293342|293344|293345|293347|293351|293353|293354|293355|293356|293362|293368|293374|293375|293378|293379|293382|293386|294607|294610|294612|294613|294614|294616|294617|294618|294619|294632|294638|294642|294654|294656|294663|294664|294685|294686|294687|294688|294689|294693|294697|294704|294705|294706|294709|294711|294712|294720|294721|294726|294734|294740|294743|294744|294745|294750|298154|298170|298175|298176|298177|298178|298179|298183|298184|298191|298192|298197|298200|298201|298202|298226|298236|298241|298248|298253|298254|298259|298260|298261|298262|298263|298264|298267|298268|298270|298271|298272|298273|298276|298277|298278|298280|298281|298282|298289|298296|298301|298307|298308|298312|298313|298314|298315|298316|298317|298320|298326|298327|298329|298332|298333|298334|298337|298338|298341|298342|298343|298344|298345|298346|298347|298352|298361|298364|298369|298370|298371|298372|298373|298374|298375|298386|298387|298391|298392|298393|298409|298410|298416|453124|453384|453386|453874|453878|512815|519869|519876|519879|519886|520116|520119|520128|520158|520160|520162|520163|559653|559655|559657|559816|559818|559820|561985|561989|561992|563644|563654|563660|614277|632141|632142|632143|632144|632145|632146|632147|632148|632149|632150|632151|632152|632153|632154|632155|632156|632157|632158|651156|651175|698492|709327|720943|720944|720946|734619|748916|748918|748922|764443|764446|764447|764449|774947|781947|781948|787204|819475|819478|829062|829063|829064|829065|829066|829067|829068|829069|829070|829071|829072|829073|890626|890627|890628|890629|890630|890631|891789|923488|923489|923490|923491|923492|932289|932290|932291|932292|932293|932294|932295|932296|943956|943957|943958|943959|943960|953756|953757|953758|953759|953760|953761|961940|969623|969656", + "text": "Fibrous dysplasia of jaw" + }, + { + "baseId": "22593|22594|22595|22596|22598|132462|132464|132467|132472|136585|255056|255057|255058|255059|255060|268435|321304|321305|321309|321311|321312|321313|321317|321319|321321|321323|321324|321327|321329|321332|321333|321334|321339|321340|321344|321346|330514|330515|330516|330526|330527|330533|330536|330537|330540|330541|330543|330544|330546|330558|330570|330573|330576|330579|330580|337092|337108|337127|337136|337139|337140|337149|337151|337157|337160|337165|337174|337176|337179|337190|337191|337197|337198|337201|337204|337205|337207|337212|339033|339035|339039|339052|339056|339059|339068|339072|339074|339075|339083|339089|339095|339099|339101|339108|339118|339121|339122|339133|480525|480526|586928|702982|702983|702985|702986|702988|714235|714236|714237|714238|714238|725801|725802|725805|725807|739312|739313|739319|739320|739328|744825|754151|760114|784787|816325|816325|872545|872546|872547|872548|872549|872550|872551|872552|872553|872554|872555|872556|872557|872558|872559|872560|872561|872562|872563|872564|872565|872566|872567|872568|872569|872570|872571|872572|872573|872574|872575|872576|872577|872578|872579|872580|872581|872582|872583|872584|872585|872586|872587|872588|872589|872590|872591|872592|872593|872594|872595|872596|872597|872598|872599|872600|872601|872602|872603|872604|872605|872606|872607|872608|872609|872610|872611|872612|872613|872614|872615|872616|872617|872618|872619|872620|872621|872622|876444|876445|876446|876447|876448", + "text": "Glaucoma 3, primary congenital, d" + }, + { + "baseId": "22593|22597|40306|40307|40308|40309|480525|714238|816325|976016", + "text": "Microspherophakia" + }, + { + "baseId": "22600|200879|200880|200881|200882|200883|200884|237349|461336|461338|461340|461501|461856|462213|514285|514286|526393|526430|526685|526921|539036|564846|566044|566046|566047|570819|640321|640322|640323|640324|687811|687812|693084|693085|693086|693087|693089|695534|701884|752806|752808|777956|838755|838756|851449|851897|926342|935687|935688|956587|960004", + "text": "Dental anomalies and short stature" + }, + { + "baseId": "22601|172300|205196|315159|315163|315211|315212|315213|315214|315218|321981|322027|322030|322032|322033|328076|328136|328148|328154|328155|329321|329332|329343|329394|329396|329408|329409|329411|329413|353203|372716|408474|614168|672084|738296|752966|788858|800955|868782|868798|868799|868800|868801|868802|872136|961788|963068", + "text": "Deficiency of transaldolase" + }, + { + "baseId": "22602|22604", + "text": "Conotruncal anomaly face syndrome/velocardiofacial syndrome" + }, + { + "baseId": "22603|259105|259112|377376|379812|426368|469894|469895|470834|471340|481486|507476|510868|510870|510871|510873|510873|510874|510875|510876|510877|510878|534029|534065|534066|534153|551749|571661|571699|571700|573262|573917|573944|573946|577904|613890|613924|613925|613929|613983|613988|614043|614485|624092|624093|624094|624095|624096|649180|649181|649182|649183|649184|649185|649186|649187|649188|653267|653592|654002|684910|684911|684912|684913|684914|684915|685470|694669|694670|694671|694672|694673|694674|694675|694676|695865|717309|757953|786552|792018|793858|794079|801255|821386|821388|821389|821399|822206|822207|849036|849037|849038|849039|849040|849041|849042|849043|849044|849045|849046|849047|849048|849049|849050|849051|852420|904191|929397|929398|929399|929400|929401|929402|929403|929404|939194|939195|939196|939197|939198|940522|951330|951331|951332|951333|951334|951335|951336|951337|951338|951339|951340|951341|959024|959025|960958|961635|980490", + "text": "DiGeorge sequence" + }, + { + "baseId": "22605|22606|510873|614485|624092|624093|624094|624095|624096|654002|961635|980490", + "text": "Shprintzen syndrome" + }, + { + "baseId": "22614|377479|426375|471580|534298|571992|626321|649493|649494|649495|649496|653721|742891|773545|792061|792062|849338|849339|939314|951473|959095|961990", + "text": "Neutrophil immunodeficiency syndrome" + }, + { + "baseId": "22615", + "text": "UCP3 POLYMORPHISM G/A" + }, + { + "baseId": "22615|22616|22618", + "text": "Obesity, severe, and type II diabetes" + }, + { + "baseId": "22617", + "text": "UCP3 POLYMORPHISM, EXON 6 SPLICE DONOR JUNCTION" + }, + { + "baseId": "22617|23169", + "text": "Morbid obesity" + }, + { + "baseId": "22619|22620|22622|22623|22624|22625|22626|22627", + "text": "Refsum disease, adult, 1" + }, + { + "baseId": "22619|22620|22621|22819|22826|22827|47476|101248|135337|177946|195353|195700|205162|252145|299171|299175|301593|301608|306284|309744|309747|309749|309753|309754|309772|314631|314632|314634|314641|314642|314643|320665|320666|320677|320694|320696|320699|321240|321243|321244|321247|321254|321262|321286|321296|421782|437850|489565|492277|545047|545386|545665|620348|865609|865610|865611|865612|865613|865614|865615|865616|865617|865618|868458", + "text": "Phytanic acid storage disease" + }, + { + "baseId": "22628|22629|538942|576424|578367|626095|718309", + "text": "Bartter syndrome, type 4b" + }, + { + "baseId": "22630|22631|22632|22633|22634|22635|22636|213516|354158|440397|496605|513894|513895|576426|578367|626096|626097|789866|789867|789868|789869|789870|789871|792834|904205|918575|918576|918577|962664|962848|980299", + "text": "Bartter syndrome type 3" + }, + { + "baseId": "22637|22640", + "text": "BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS" + }, + { + "baseId": "22638|22639", + "text": "Bartter syndrome, type 3, with hypocalciuria" + }, + { + "baseId": "22641|29966|29987|215789", + "text": "Clear cell carcinoma of kidney" + }, + { + "baseId": "22642|22643|22644|54043|54045|54130|140875|173997|174135|229489|245264|249662|249663|258459|278403|278404|278407|278408|278409|278415|278417|278418|278419|278425|278428|278431|278432|278434|278440|278442|278448|278450|278452|278475|278477|278481|278483|278484|278485|278487|278489|278497|278500|278501|278502|278505|278506|278507|278508|278509|278519|278520|278521|278522|278544|278554|278555|278558|278560|278563|279623|279624|279626|279628|279630|279631|279632|279633|279634|279641|279643|279663|279664|279667|279679|279681|279682|279691|279694|279697|279699|279700|279701|279712|279713|279722|279723|279725|279726|279729|279742|279745|279747|279750|279752|279759|279773|279785|279786|279788|279789|279790|279792|279793|279794|279802|279808|279819|279820|279825|279827|279828|301040|301063|301069|301070|304010|304029|304032|304033|304034|304045|308731|308785|308786|308822|308823|308824|353797|486661|620711|706988|800816|800817|800818|863266|863267|863268|863269|863270|863271|863272|863273|863274|863275|863276|863277|863278|863279|863280|863281|863282|863283|863284|863285|863286|863287|863288|863289|863290|863291|863292|863293|863294|863295|863296|863297|863298|863299|863300|863301|863302|863303|863304|863305|863306|865090", + "text": "Epidermolysis bullosa simplex due to plakophilin deficiency" + }, + { + "baseId": "22645|28764|28765|28766|28767|28770|28771|363959|389668|389738|389769|455495|455502|455503|455505|455510|455521|455522|455524|455529|455593|455594|455596|455597|455599|455621|455623|455626|455627|455636|455637|455641|455650|455652|456099|456101|456111|456116|456117|456119|456329|456331|456333|456345|456354|456357|456358|456369|456370|521541|521544|521551|521552|521562|521563|521565|521566|521568|521837|521838|521842|521854|521856|521859|521897|521902|521903|521905|521907|521912|521913|521918|521923|521926|521929|521931|522223|522224|522225|522240|522242|522257|522259|522267|522273|522278|522280|560680|560684|560686|560688|560758|560779|560781|560790|563506|563507|563514|563518|565544|565548|565555|565557|565558|565559|565562|565566|565579|565581|565584|565585|614305|614306|614523|624311|634806|634807|634808|634809|634810|634811|634812|634813|634814|634823|634824|634825|634826|634827|634828|634829|634830|634831|634832|634833|634834|634835|634836|634837|634838|651548|651551|651603|651648|651650|699539|699540|699541|699542|699551|710433|710434|710436|710437|710438|710449|721971|721972|721974|721975|721976|721986|721987|721988|735604|735605|735607|735608|735609|735617|750026|750028|750031|750032|750033|750038|750040|765633|765636|765644|765650|777715|777721|782512|782513|782521|816314|819683|831788|831789|831790|831791|831792|831793|831794|831795|831796|831797|831798|831799|831800|831801|831802|831803|831804|831805|831806|831807|831817|831818|831819|831820|831821|831822|831823|831824|831825|831826|831827|831828|831829|831830|831831|831832|831833|831834|831835|831836|831837|831838|831839|831840|831841|831842|831843|924319|924320|924321|924322|924323|924324|924325|924326|924328|924329|924330|924331|924332|933270|933271|933272|933273|933278|933279|933280|933281|933282|933283|933284|933285|933286|933287|933288|933289|933290|940035|940842|944963|944964|944973|944974|944975|944976|944977|944978|944979|954416|954417|954418|954419|954420|954421|954422|954423|954424", + "text": "Bare lymphocyte syndrome type 1" + }, + { + "baseId": "22646", + "text": "Epilepsy, juvenile myoclonic 6" + }, + { + "baseId": "22647|190285|190285|201269|361167|440540", + "text": "Epilepsy, idiopathic generalized 9" + }, + { + "baseId": "22647|134010|134011|134012|140354|140358|140359|190285|190285|191506|201269|201269|201270|282202|282203|282204|282210|282211|282215|282225|282228|282238|282249|282262|282263|282264|282275|282285|282287|282292|282867|282873|282889|282890|282897|282908|282909|282910|282911|282912|282915|282916|282937|282940|282941|282942|282946|282954|282983|282986|282988|282989|284475|284478|284479|284480|284481|284482|284492|284493|284498|284519|284520|284799|284801|284803|284815|284818|284819|284822|284851|284852|284875|284876|284882|284883|284884|284885|284889|284893|284898|284904|284921|284923|284924|284925|284934|440540|440542|559292|824976|881201|881202|881203|881204|881205|881206|881207|881208|881209|881210|881211|881212|881213|881214|881215|881216|881217|881218|881219|881220|881221|881222|881223|881224|881225|881226|881227|881228|881229|881230|881231|881232|881233|881234|881235|881236|881237|882814|882815|882816", + "text": "Episodic ataxia, type 5" + }, + { + "baseId": "22654|22655|22656|22657|22658|22659|22659|22660|22662|22663|22664|22667|51644|51647|51649|51650|51653|152780|176733|177784|194284|210301|210309|210310|210319|210324|210325|210328|210330|210333|210334|210347|232095|232096|232100|232102|232102|232113|243574|245166|257314|257318|257324|259048|259057|260802|269659|271031|271482|271491|271733|272587|273271|273422|273424|273773|273836|274369|274616|275499|334804|334808|344693|344701|349662|349672|350661|350668|350671|354182|378180|378183|403597|403600|403647|403650|403653|403654|404136|404142|404145|404160|410730|410730|424902|469325|469327|469328|470292|470295|470846|470851|470854|471364|471365|489021|489156|489782|491402|491416|491752|491938|492111|492576|492962|493267|510818|513380|513664|533433|533434|533475|533475|533476|533490|533492|533514|533515|533517|534001|534002|534004|534012|534015|571131|571147|571149|571156|572850|572851|572857|573463|575076|575505|581951|584331|585450|585460|585521|587275|588302|589491|610482|613920|648573|648574|648575|648576|648577|648578|648579|648580|648581|648582|648583|648584|648585|653189|684865|689181|689184|694526|791970|791971|804908|804909|804910|818579|848209|848210|848211|848212|848213|848214|848215|848216|848217|848218|848219|848220|848221|848222|848223|848224|848225|848226|848227|848228|848229|848230|848231|851842|852367|885805|929141|929142|929143|929144|929145|929146|938908|938909|938910|938911|938912|938913|938914|941250|950986|950987|950988|950989|950990|950991|950992|950993|950994|950995|950996|950997|950998|950999|951000|951001|958779|958780|958781|958782|958783|958784|958785|958786|958787|958788|958789|960310|960933|960934|960935|962804|963076|964528|975665|980583|983469", + "text": "Alagille syndrome 1" + }, + { + "baseId": "22659|22665|232102|410730|533475", + "text": "Deafness, congenital heart defects, and posterior embryotoxon" + }, + { + "baseId": "22668|283984|283986|284744|284747|284753|287112|550211|550212|550213|550214|550215|550216|550217|550218|550219|550220|883349|883350|883351|883352|883353|883354|883355|887241", + "text": "Orofacial cleft 10" + }, + { + "baseId": "22669|39193|513099|535382|590508|612296|622516|622517|622518|622519|625985", + "text": "Split-hand/foot malformation 6" + }, + { + "baseId": "22670", + "text": "Bone mineral density quantitative trait locus 12" + }, + { + "baseId": "22671|22672|22673|23676|251009|251010|289515|289517|289521|289522|289523|289532|289533|289535|289536|289537|290294|290297|290300|290308|290310|290311|293366|293369|293370|293372|293373|293376|293385|293388|293390|293393|293808|293825|481678|686362|686364|763730|888385|888386|888387|888388|888389|888390|888391|888392|888393|888394|888395|888396|888397|888398|888399|888400|888401|888402|888403|888404|888405|888406|888407|888408|888409|888410|888411|888412|888413|888414|888415|970760", + "text": "Short stature due to growth hormone secretagogue receptor deficiency" + }, + { + "baseId": "22674|22675|22676|22677|256700|256701|331951|331960|331963|331964|331970|331977|331978|331980|342169|342171|342190|342192|342194|342200|342201|342204|342206|347540|347545|347560|347561|347562|347563|347565|348920|348921|348923|348931|348934|348935|348937|348938|469854|488356|647366|694288|694289|695796|704638|704640|727759|778464|879517|879518|879519|879520|879521|879522|879523|879524|879525|879526|879527|879528|879529|879530|879531|879532|879533|879534|879535|879536|879537|879538|879539|879540|879541|879542|879543|879544|879545|879546|879547|879548|879549|879550|879551|879552|879553|879554|879555|938477|950572", + "text": "Microphthalmia, isolated 3" + }, + { + "baseId": "22678|22679|141810|141811|141812|141813|141814|238213|249742|249743|249745|279376|279381|279383|279599|279600|279614|279622|280868|280885|280889|280893|280894|281008|281009|281022|281023|281029|390969|391062|391077|391082|447503|447651|515557|515561|515562|515590|627389|683303|683304|683305|685630|690500|780577|780578|818931|818932|823491|863788|863789|863790|863791|863792|863793|863794|863795|863796|863797|863798|865133|930331|930332|941771", + "text": "Left-right axis malformations" + }, + { + "baseId": "22680|22681|22682|49862|250976|250977|265475|289049|289050|289051|289052|289056|289057|289059|289065|289067|289785|289787|289788|289789|289790|289796|289797|292868|292869|292873|292877|292878|293106|293108|293114|293116|293123|293127|293131|293134|486339|536189|620112|708621|720232|720233|720235|720237|720238|763675|798523|888113|888114|888115|888116|888117|888118|888119|888120|888121|888122|888123|888124|888125|888126|888127|888128|888129|888130|888131|888132|888133|888134|888135|888136|888137|888138|888139|888140|888141|891586|918805|969603|969604", + "text": "Bruck syndrome 2" + }, + { + "baseId": "22683|22684|22685|22686", + "text": "Bare lymphocyte syndrome, type II, complementation group c" + }, + { + "baseId": "22687", + "text": "Bare lymphocyte syndrome type 2, complementation group E" + }, + { + "baseId": "22688|22689|22690|22691", + "text": "Bare Lymphocyte Syndrome, Type II, Complementation Group D" + }, + { + "baseId": "22692|22693|22694|22694|22695|22695|22695|22696|22697|22698|141319|141320|141321|191869|191869|191869|192620|192620|195240|196178|196178|214785|227274|229214|229214|229216|229217|229218|229218|229219|229219|229219|229220|229220|229221|229221|229224|229225|229225|229226|229227|229227|229228|229228|229230|229230|229231|229231|229232|246970|246970|268006|268006|270865|294951|294952|294957|294959|294959|294966|294973|294975|294988|294989|296729|296732|296733|296734|300435|300436|300436|300448|300449|300475|300476|300476|300477|300478|357363|357364|357365|357366|357367|357368|357368|357369|357370|357371|357372|357373|357374|357375|357376|357377|357377|357378|357378|357379|357380|421509|433610|487165|487165|487165|491621|492308|492401|492856|495228|495228|496413|496414|496799|513551|543268|543271|543277|543279|543281|543288|543289|543554|543557|543559|543572|543576|543637|543638|543639|543643|543645|543647|543649|543651|543657|543663|543666|543666|543676|543727|543732|543734|543747|543748|543755|543759|543761|543762|543767|543770|543772|543776|549590|560084|585192|585192|585516|585516|585799|586552|586552|588063|612688|612688|621193|621735|621735|632868|632869|632869|632870|632870|660631|709582|721174|721175|721175|721176|749151|749151|749152|749153|764750|764750|774991|774991|775001|782099|782100|782101|782101|787397|790510|793067|801564|819524|829838|829839|829840|829841|851877|892646|892647|892648|892649|892650|892651|892652|892653|892654|892655|892656|892657|892658|896014|923724|923725|932577|932578|940791|953925|953926|963078|965427|978117|978118|978119", + "text": "Bifunctional peroxisomal enzyme deficiency" + }, + { + "baseId": "22694|22695|70522|188976|191869|192620|196178|229214|229218|229219|229220|229221|229225|229227|229228|229230|229231|246970|268006|270865|294959|294989|296734|300436|300476|357368|357377|357378|433610|487165|491621|492308|492401|492856|543666|560084|585192|585516|586552|612688|621735|632868|632869|632870|709582|721174|721175|721176|749151|749152|749153|764750|774991|775001|782099|782100|782101|787397|819524|829838|829839|829840|829841|851877|923724|923725|932577|932578|940791|953925|953926", + "text": "Perrault syndrome" + }, + { + "baseId": "22694", + "text": "HSD17B4-Related Disorders" + }, + { + "baseId": "22694|22695|39184|141319|141320|141321|141322|191869|191869|192620|195240|196178|227274|229214|229217|229218|229219|229219|229220|229221|229224|229225|229226|229227|229228|229230|229231|229232|246970|268006|294951|294952|294957|294959|294966|294973|294975|294988|296729|296732|296733|300435|300436|300448|300449|300475|300476|300477|300478|487165|495228|513551|549590|585799|586552|588063|612688|626016|632870|660631|892646|892647|892648|892649|892650|892651|892652|892653|892654|892655|892656|892657|892658|896014", + "text": "Perrault syndrome 1" + }, + { + "baseId": "22699|22700|22701|22702|75560|75564|328525|328526|328537|328538|328549|328551|328566|328570|328573|338482|338490|338491|338493|338494|338495|338502|338507|338509|338511|338514|344552|344554|344558|344560|344564|344566|344567|344570|344571|344582|344589|344593|344595|344596|344603|344605|345959|345961|345962|345966|345970|345974|345975|345978|345980|345981|345983|345984|345994|362585|362586|362587|362588|485863|681811|740778|877565|877566|877567|877568|877569|877570|877571|877572|877573|877574|877575|877576|877577|877578|877579|877580|877581|877582|877583|877584|877585|877586|877587|877588|877589|877590|877591|877592|877593|877594|877595|877596|877597|877598|877599|877600|877601|877602|877603|877604|880520|880521|880522", + "text": "Pseudohypoaldosteronism type 2B" + }, + { + "baseId": "22703|22704|22705|22706|22707|22708|22709|22710|256829|256830|256833|256834|332833|332855|332859|343022|343023|343024|343026|343028|343029|343040|343047|343052|348360|348363|348364|348365|348368|348370|348372|348378|348393|348396|348397|349535|349536|349539|349541|349543|349544|349545|349546|349547|349548|349552|349555|349556|349559|704852|704853|756829|778507|791915|880126|880127|880128|880129|880130|880131|880132|880133|880134|880135|880136|880137|880138|880139|880140|880141|880142|880143|880144|880145|880146|880147|880148|880149|880150|880151|880152|880153|880154|880155|880156|880157|880158|880159|880160|880714|880715|880716|880717|880718|880719|880720|906179|971345|971346", + "text": "Thyroid dyshormonogenesis 1" + }, + { + "baseId": "22709|27730|27734|27745|187125|227362|249367|260069|264574|281632|282017|282053|284546|299299|301730|301834|301850|306209|306237|306293|306495|306599|313103|321634|321636|322630|332093|332137|339642|360201|578009|578010|578011|620519|672073|722860|816512|873649|976570|976571|976572|976573|976574|976575|976576|976577|976578|976579|976580|976581|976582", + "text": "Congenital hypothyroidism" + }, + { + "baseId": "22711|22712|22712|22713|22714|22715|22716|22717|134928|208008|208009|208010|208012|208013|227174|264505|318850|318855|318858|318860|318861|318862|318866|318867|318871|318873|318877|318878|318879|318886|318887|327235|327243|327246|327249|327251|327256|327261|327265|327267|327268|333353|333354|333361|333369|333370|333378|333382|333384|333385|333386|333387|333388|333388|333389|333398|333403|333405|333409|333416|333417|333418|333419|335099|335103|335107|335108|335112|335113|335116|335127|335129|335130|353262|359989|384422|408785|426723|426724|429475|429476|429478|445109|463453|497022|512045|527458|527480|527483|527484|527493|528006|565859|567102|567161|567173|567180|568249|568252|568254|568256|572195|572195|572200|572204|614386|641538|641539|641540|641541|641542|641543|641544|641545|641546|641547|641548|641549|641550|641551|641552|641553|641554|641555|641556|652508|681829|684381|684382|688098|688099|688100|693323|769391|784519|816324|840515|840516|840517|840518|840519|840520|840521|840522|840523|840524|840525|840526|840527|840528|840529|840530|840531|840532|840533|840534|840535|840536|840537|840538|840539|870669|870670|870671|870672|870673|870674|870675|870676|870677|870678|870679|870680|870681|870682|870683|870684|926796|926797|926798|926799|926800|926801|926802|936330|936331|936332|936333|936334|948251|948252|948253|948254|948255|948256|948257|948258|957015|957016|957017|957018|957019|957020|961964|965988|966798", + "text": "Lig4 syndrome" + }, + { + "baseId": "22712|27386|27395|27397|27405|27408|27409|27641|27642|27645|27646|27650|27652|28375|28377|28378|28938|28939|28940|29000|29006|29007|29009|29010|29011|29013|29755|31370|31371|31382|31967|31968|44227|45735|48247|48857|48938|48939|48940|49030|53970|53980|54283|54284|54289|70450|83949|87578|150515|150855|166215|172332|174177|179419|180995|181000|181025|185350|213392|213398|216786|236459|236461|236462|236469|236479|242980|263939|333388|359197|359952|362753|362755|362768|362770|362771|362772|362822|362826|362842|362844|362867|362868|362912|362952|363174|363201|363247|363248|363249|363250|363251|363253|363254|363255|363256|363257|363321|363322|363323|363361|363362|363363|363443|363444|363445|363446|363447|363453|363454|363455|363456|363461|363462|363463|363464|363465|363466|363467|363468|363496|363497|363498|363499|363503|363504|363505|363506|363507|363508|363518|363519|363520|363521|363522|363523|363524|363525|363531|363534|363535|363552|363560|363561|363562|363563|363564|363565|572195|788676|788677|788678|788679|788680|788681|788682|788683|788684|788685|788686|788687|788688|788689|788690|788691|788692|788693|788694|788695|788696|788697|788698|788699|788700|788701|788702|788703|788704|788705|788706|788707|788708|788709|788710|788711|788712|788713|788714|788715|788716|788717|788718|788719|788720|788721", + "text": "Multiple myeloma" + }, + { + "baseId": "22715|22716", + "text": "Multiple myeloma, resistance to" + }, + { + "baseId": "22720|22721|22722|677068", + "text": "Mitochondrial complex 1 deficiency, nuclear type 3" + }, + { + "baseId": "22723|312425|312426|312428|312431|312432|318307|318310|318316|318319|324451|325187|325188|325189|325192|724209|737748|867065|867066|867067", + "text": "Renal hypomagnesemia 2" + }, + { + "baseId": "22724|22725|22726|22727|22728|22729", + "text": "Lactase persistence" + }, + { + "baseId": "22730|22732|22733|22735|194383|194383|263003|267212|267212|291300|292374|295765|295766|295767|295779|354270|485730|485731|485732|485733|519880|588816|709001|790413|889472|889474|905052", + "text": "Septo-optic dysplasia sequence" + }, + { + "baseId": "22731", + "text": "Septooptic dysplasia, mild" + }, + { + "baseId": "22732|22738|194383|267212|519880|588816", + "text": "Growth hormone deficiency with pituitary anomalies" + }, + { + "baseId": "22734|22736|22737|22739", + "text": "Pituitary hormone deficiency, combined 5" + }, + { + "baseId": "22740|22741|101044|101045|101046|177934|177935|194925|195676|249330|249350|249354|249355|249357|270290|270940|275796|275797|275798|275800|275819|275820|275821|275822|275964|275965|275967|275969|275997|275999|276004|276009|493290|589315|706529|761035|780254|822471|861848|861849|861850|861851|861852|861853|861854|861855|861856|861857|861858|861859|861860|861861|864953|864954", + "text": "Peroxisome biogenesis disorder 13A" + }, + { + "baseId": "22742|39182|39183|190400|192335|193512|193513|193513|250754|273429|274056|275187|286887|286891|286893|286895|286900|286905|286908|287627|287628|287643|287648|287650|287662|287663|287679|287680|287681|287682|287687|287688|287691|287692|287693|287694|287695|287696|287698|289998|290025|290026|290029|290033|290051|290055|290059|290081|290083|290088|290089|290419|290420|290432|290433|290436|489973|490950|492063|492063|492294|492782|493270|493457|513256|558251|558624|560891|560892|561861|561873|584232|584336|585899|587774|588990|759275|826863|826864|826865|826866|826867|826868|826869|826870|858718|885252|885253|885254|885255|885256|885257|885258|885259|885260|885261|885262|885263|885264|885265|885266|885267|885268|885269|885270|885271|885272|885273|885274|885275|885276|885277|885278|885279|885280|885281|885282|885283|885284|885285|885286|885287|885288|885289|922890|931537|931538|943056|943057|943058|943059|943060|943061|943062|953155|953156|953157", + "text": "Peroxisome biogenesis disorder 11A" + }, + { + "baseId": "22743|193513|362041|492063", + "text": "Peroxisome biogenesis disorder 11B" + }, + { + "baseId": "22744|76595|76596|283668|283669|283670|283671|283677|283678|284309|284310|284318|284320|284322|284341|284343|284350|284351|284353|286303|286328|286329|286330|286336|286345|286347|286619|286650|286651|286659|286674|286678|286683|286701|883073|883074|883075|883076|883077|883078|883079|883080|883081|883082|883083|883084|883085|883086|883087|883088|883089|887225", + "text": "Myostatin-related muscle hypertrophy" + }, + { + "baseId": "22745|22746|22747|22748|22749|22750|22751|22752|22753|22755|22756|22757|22758|22759|22760|22761|22762|22764|22765|22766|33995|33996|33997|39181|98707|98709|98710|98711|98714|135422|186951|186952|186953|186954|190245|194819|194820|195874|195875|227382|255943|260132|265315|269607|270096|270549|273389|274802|275109|326612|326617|326759|326761|326762|326769|326771|326773|326776|326777|326778|326779|336422|336552|336555|336558|336559|336574|336575|336582|336585|336588|336591|336592|336598|336603|336607|342659|342661|342662|342845|342846|342849|342851|342853|342856|342858|342862|342864|342866|344271|344479|344480|344482|344485|344487|344488|344489|344490|344491|344492|344493|344494|344497|344499|344501|344505|344509|358377|358378|358379|358380|358381|358382|358383|358384|358385|358386|358387|358388|404826|409752|413427|422115|439326|486815|487801|495633|512230|529859|530674|536476|547799|547801|547803|547808|547809|547811|547819|547828|547841|547844|547847|548087|548089|548091|548093|548098|548101|548105|548110|548120|548121|548543|548549|548557|548573|548584|548586|548588|548591|548594|548597|548601|548605|620565|621550|621551|621847|621848|645097|645098|645099|645100|645101|645102|645103|652487|652882|653070|653167|653169|653316|677326|682106|693952|740440|744878|755472|771135|771136|771137|776389|776393|788090|788092|788213|791648|806409|820892|820896|820897|820898|820901|820902|820903|820904|820905|820906|844457|844458|844459|844460|844461|844462|844463|876116|876117|876118|876119|876120|876121|876122|876123|876124|876125|876126|876127|876128|876129|876130|876131|876132|876133|876134|876135|876136|876137|876138|876139|876731|876732|876733|917222|917543|919680|927996|927997|927998|957907|957908|957909|960856|960857|972601|979810", + "text": "Congenital disorder of glycosylation, type Ia" + }, + { + "baseId": "22767|22768|22769|22769|22770|22771|22772|22773|22774|22776|22776|22777|22778|22778|22779|22781|22782|22783|39179|39180|79358|79359|98344|98345|98346|102590|102591|102592|132472|176950|177657|177659|177660|177661|193369|227243|227244|266801|286180|286182|286193|286194|286198|286203|286222|286225|286936|286937|286940|286946|286948|286949|286950|286952|286953|286959|286962|286972|286981|286985|289251|289253|289257|289263|289265|289268|289275|289276|289286|289289|289290|289291|289624|289631|289634|289639|289655|289656|289660|289672|404760|451009|451194|451210|492426|514468|620087|691154|691155|691156|781326|788753|801602|801603|801604|884813|884814|884815|884816|884817|884818|884819|884820|884821|884822|884823|884824|884825|884826|884827|884828|884829|884830|884831|884832|884833|884834|884835|884836|884837|884838|884839|884840|884841|884842|884843|884844|884845|884846|884847|884848|884849|884850|884851|884852|884853|884854|884855|884856|884857|884858|884859|884860|884861|884862|884863|884864|962065|962068|964200", + "text": "Glaucoma 3, primary congenital, A" + }, + { + "baseId": "22769|22775|22776|22776", + "text": "Anterior segment dysgenesis 6" + }, + { + "baseId": "22769|22776|337201|919543", + "text": "Glaucoma 3, primary infantile, b" + }, + { + "baseId": "22769|22774|22776|22778|22783|98344|177659|259737|266801|451010|492426|514468|691154|691155|691156|697565|697566|781326|826466|826467|953089|953090|960477", + "text": "Congenital glaucoma" + }, + { + "baseId": "22774|79358|79360|177660|263296|629993|654756|962067", + "text": "Glaucoma of childhood" + }, + { + "baseId": "22776|22778|79360|620747", + "text": "CYP1B1-Related Disorders" + }, + { + "baseId": "22776|23128|23133|23487|79358|79361|237249|237580|249980|267189|270847|272086|273530|362087|365343|414803|418809|448226|489784|492837|563473|609191|622992|628136|628137|628138|628141|690635|690636|690637|696788|746547|780725|824218|824219|824220|824221|824222|824223|824224|824225|824226|824227|824228|824229|826466|920589|920590|920591|920592|920593|920594|920595|920596|920597|922113|922114|930589|930590|930591|930592|930593|930594|930595|942025|942026|942027|942028|952463", + "text": "Anterior segment dysgenesis" + }, + { + "baseId": "22778", + "text": "Glaucoma, early-onset, digenic" + }, + { + "baseId": "22778|153828|153829|153830|153831|153832|184524|361481|626126|697345|788749|802132|802133|804988|804989|918741|918742", + "text": "Myopathy, centronuclear, 5" + }, + { + "baseId": "22781|22782|39180", + "text": "Glaucoma, primary open angle, juvenile-onset" + }, + { + "baseId": "22784|22785|22786|22787|22788|22789|22790|22791|22792|22793|22794|22795|22796|22797|22798|195700|259277|259278|317168|317177|317179|317180|317189|317192|317195|317197|317205|317210|317215|317216|317217|317231|317241|317242|317243|317246|317247|317248|317249|317253|317255|324900|324907|324918|324923|324924|324928|324940|324954|324955|324965|324974|331033|331037|331040|331058|331061|331062|331065|331070|331075|331077|331082|331088|331092|332564|332565|332570|332572|332573|332585|332589|332592|332593|332598|332599|332600|332607|332608|332613|332615|332617|332621|332626|332634|332654|622899|702318|713543|725107|738651|738652|769128|784390|839936|869846|869847|869848|869849|869850|869851|869852|869853|869854|869855|869856|869857|869858|869859|869860|869861|869862|869863|869864|869865|869866|869867|869868|869869|869870|869871|869872|869873|869874|869875|869876|869877|869878|869879|869880|869881|869882|869883|869884|869885|869886|869887|869888|869889|869890|872243|980347", + "text": "Vitamin D-dependent rickets, type 2" + }, + { + "baseId": "22799|22801|283918|283932|283934|283937|283939|283943|283944|284609|284610|284615|284618|284619|284623|284624|284626|284632|284637|284638|284641|286548|286549|286550|286551|286974|286980|286982|286983|287008|287011|287012|450412|517602|517606|517629|517633|517785|559037|559039|560532|614239|620048|629285|629286|629287|629288|629289|629290|650720|650909|707942|733071|762785|781107|790152|790153|819098|825566|825567|825568|825569|825570|883239|883240|883241|883242|883243|883244|883245|883246|883247|883248|883249|883250|883251|883252|883253|883254|883255|883256|883257|883258|883259|883260|887236|922511|922512|922513|931074|942553|942554|942555|942556|942557|952879|952880|952881|961929|961930|961931|961932", + "text": "Autoimmune lymphoproliferative syndrome type 2B" + }, + { + "baseId": "22801", + "text": "Breast cancer, protection against" + }, + { + "baseId": "22802|32009", + "text": "Lung cancer, protection against" + }, + { + "baseId": "22803|22803|22808|34579|34579|34580|34580|283838|283842|283847|283853|283853|283858|283859|283866|283866|283867|283868|283868|283887|283888|283893|283895|283896|283900|283902|283909|283913|284489|284490|284499|284505|284505|284516|284516|284517|284517|284518|284521|284524|284525|284549|284550|284552|284561|284570|284571|284573|284574|284589|284601|284602|284607|286493|286493|286495|286499|286500|286500|286508|286510|286514|286517|286520|286522|286523|286534|286535|286544|286546|286547|286885|286885|286907|286907|286910|286918|286919|286922|286925|286926|286932|286934|286951|286954|286956|286965|286967|450370|450376|450409|517511|517593|517598|517601|517619|517622|517775|517780|517783|557861|557863|559033|559035|560509|560518|560518|560525|560527|560529|583046|614238|629276|629277|629278|629279|629279|629280|629281|629282|629283|629284|650714|707941|707941|719517|733068|733069|733069|733070|762782|774649|774654|790150|790151|819096|819097|825556|825557|825558|825559|825560|825561|825562|825563|825564|825565|851386|883207|883208|883208|883209|883210|883211|883212|883213|883214|883215|883216|883217|883218|883219|883220|883221|883222|883223|883224|883225|883226|883227|883228|883229|883230|883231|883232|883233|883234|883235|883236|883237|883238|887234|887235|922508|922509|922510|931071|931072|931073|940684|942546|942547|942548|942549|942550|942551|942552|952876|952877|952878|959620", + "text": "Autoimmune lymphoproliferative syndrome, type 2A" + }, + { + "baseId": "22803|34579|34580|283853|283866|283868|284505|284516|284517|286493|286500|286885|286907|450370|450376|450409|517511|517593|517598|517601|517619|517622|517775|517780|517783|557861|557863|559033|559035|560509|560518|560525|560527|560529|583046|629276|629277|629278|629279|629280|629281|629282|629283|629284|650714|707941|733068|733069|733070|762782|774649|774654|790151|819096|819097|825556|825557|825558|825559|825560|825561|825562|825563|825564|825565|851386|883208|922508|922509|922510|931071|931072|931073|940684|942546|942547|942548|942549|942550|942551|942552|952876|952877|952878|959620", + "text": "Autoimmune lymphoproliferative syndrome type 2" + }, + { + "baseId": "22807|31540|31542|31544|34064|34064|138110|138111|138112|138113|165620|165900|207798|253905|277420|277421|277424|277426|277426|277429|277431|277436|277449|277640|277641|277642|277647|277649|277654|277658|278496|278510|278512|278518|278523|278524|278525|278528|278530|278533|278535|278536|278537|278538|278539|278540|278567|278572|283863|283907|284569|286494|286518|286531|286533|286537|311582|311586|311592|311593|311595|311599|311600|311607|311609|311613|311618|311621|317170|317171|317172|317173|317183|317184|323201|323202|323203|323204|323211|323213|323777|323778|323779|323780|323784|323797|323799|323807|323808|447425|512842|512921|514003|515325|515332|515376|515377|515384|517780|525600|525604|525945|538943|558252|564039|564045|564911|564912|566611|569888|589803|627121|627122|627123|629283|639300|639301|639302|639303|652045|652155|652158|652160|652344|679773|724109|745848|752324|761337|774405|789879|789880|789881|789882|790150|790151|791011|791012|791013|791014|816317|818871|818872|820274|820276|823012|823013|823014|823015|823016|837459|837460|837461|837462|837463|837464|837465|837466|837467|837468|837469|837470|837471|837472|862823|862824|862825|862826|865037|866517|866518|866519|866520|866521|866522|866523|866524|866525|866526|866527|866528|866529|866530|866531|868529|868530|868531|868532|921757|925974|930169|930170|930171|935229|935230|941581|947129|947130", + "text": "Autoimmune lymphoproliferative syndrome" + }, + { + "baseId": "22809|22810|22811|22812|22813|22813|22814|22818|98680|98681|98682|98683|98684|177933|188880|188880|267626|269779|271584|328126|328138|328140|328141|328143|337985|337986|337990|337995|337999|338002|338007|338010|338014|338015|344172|344181|344184|344193|344194|344197|345581|345583|345587|345587|345588|345589|345592|345593|358425|358426|358427|362280|364154|430999|430999|445758|489029|493070|493070|494107|539070|539070|548051|548053|548056|548057|548058|548072|548074|548075|548075|548076|548079|548080|548080|548081|548082|548083|548088|548090|548092|548097|548108|548337|548337|548344|548348|548348|548350|548356|548359|548361|548807|548808|548810|548818|548819|548819|548821|585659|652809|704097|715384|740692|755787|755788|771443|785540|845235|845236|845237|845238|845239|845240|845241|845242|845243|877261|877262|877263|877264|877265|877266|877267|877268|877269|877270|877271|877272|877273|877274|906153|928236|928237|937894|937895|937896|937897|937898|937899|958087|958088|958089|958090|958091", + "text": "Peroxisome biogenesis disorder 3A" + }, + { + "baseId": "22813|22814|22815|22816|22817|22818", + "text": "Peroxisomal biogenesis disorder 3b" + }, + { + "baseId": "22813|22818|98680|98683|98684|177933|188880|267626|345587|358425|358426|358427|364154|364154|430999|445758|493070|494107|539070|548051|548053|548056|548057|548058|548072|548074|548075|548076|548079|548080|548081|548082|548083|548088|548090|548092|548097|548108|548337|548344|548348|548350|548356|548359|548361|548807|548808|548810|548818|548819|548821|919725", + "text": "Infantile Refsum's disease" + }, + { + "baseId": "22819|22819|22819|22820|22821|22822|22823|22824|22825|22826|22827|22827|22829|47477|186699|186700|186701|186702|195227|227291|227291|252144|252145|252145|275145|275439|299176|299180|299188|299189|299194|301586|301589|301590|301591|301592|301612|305982|305983|305994|305997|306285|306298|306301|306302|306304|306305|306306|357420|357421|357422|357423|357424|357425|357426|357427|357428|357429|357430|357431|357432|357433|357434|428524|428525|428526|489565|492277|492277|501556|543621|543622|543623|543627|543934|543938|543940|543941|543942|543944|543946|543948|543950|543954|544035|544056|544060|544063|544069|544073|544074|584563|651523|777665|787464|790592|801609|801610|801611|801612|801613|801614|801615|806370|831609|895450|895451|895452|895453|895454|895455|895456|895457|895458|978217|978218", + "text": "Rhizomelic chondrodysplasia punctata type 1" + }, + { + "baseId": "22819|22824|22827", + "text": "PEX7-Related Disorders" + }, + { + "baseId": "22819|22819|22819|22820|22821|22822|22823|22824|22825|22826|22827|22827|22829|186699|186700|195227|227291|227291|252144|252145|252145|275145|299176|299180|299188|299189|299194|301586|301589|301590|301591|301592|301612|305982|305983|305994|305997|306285|306298|306301|306302|306304|306305|306306|357420|357432|488872|489565|489565|492277|492277|543938|584563|588589|651523|651639|765504|765506|775204|782455|787313|787464|801613|819666|831608|831609|852012|895450|895451|895452|895453|895454|895455|895456|895457|895458|933190|944900|954381|959800|983862", + "text": "Peroxisome biogenesis disorder 9B" + }, + { + "baseId": "22824|167559|167560|167561|188236|249769|252144|281169|281171|283053|283057|283059|283061|283073|283074|283075|283855|283856|283862|283864|283871|283877|285509|285536|285554|285555|285556|285580|285589|285927|285935|285947|285954|285955|285957|285995|299171|299175|301593|301608|305982|306284|489565|543938|707864|707865|719427|816407|816427|881660|977642|977643|977644|977645|977646|977647|977648|977649|977650|977651|977652|977653|977654|977655|977656", + "text": "Rhizomelic chondrodysplasia punctata" + }, + { + "baseId": "22843|22844|22845|22846|281255|281256|281258|281259|281266|281267|281268|281871|281873|281875|281879|281880|281893|283124|283128|283131|283132|283136|283143|283159|283160|283163|283324|283325|283326|283330|283331|283333|283339|283340|353109|513903|550583|620016|654219|654220|789999|799226|799227|864824|864825|864826|864827|864828|864829|864830|864831|864832|865211|904066|918660", + "text": "Glomuvenous malformations" + }, + { + "baseId": "22847|22848|39176|39177|39178|790561", + "text": "Primary localized cutaneous amyloidosis 1" + }, + { + "baseId": "22849|22850|538962|552289|626124|653851|653852|790193|790194", + "text": "AICAR transformylase/IMP cyclohydrolase deficiency" + }, + { + "baseId": "22851|22852|22854|22855|22856|22857|22858|22859|22860|22861|22862|22863|22864|22865|22866|22867|22868|22872|22872|22873|22874|22875|22878|22882|22883|22884|22885|22886|22891|28692|50121|82009|98715|98723|98724|98736|133117|133119|133129|133133|133148|133149|133150|133152|133153|139623|139624|142541|150491|150497|151199|151485|151926|151983|152111|152137|152558|152734|166276|166277|181623|183009|183021|183043|183060|183066|185731|187326|187336|187338|187342|187363|187379|187388|187390|190026|212820|213602|222001|231786|231792|240889|245285|248610|253901|311528|358836|358837|358838|358839|358840|371552|397685|398057|398063|408007|416934|416937|416967|416968|416969|416970|416971|416972|416973|416974|416975|416976|416978|416979|416980|416981|416982|416983|416984|416985|419758|419770|429137|475185|484088|484318|519162|537441|537873|537874|539290|539291|539293|539294|539295|539296|539297|539298|539299|539300|569855|613896|619903|686367|689736|790361|790362|790363|790364|790365|790366|790367|810097|861455|861456|861457|961521|964349|964844", + "text": "Cowden syndrome 1" + }, + { + "baseId": 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5|639276|639277|639278|639279|639280|639281|639282|639283|639284|639285|639286|639287|639288|639289|639290|639291|639292|639293|639294|651979|651986|652153|652289|652300|654622|677041|724105|744654|752320|760005|768039|768041|768042|768045|783768|787705|790995|790996|790997|790998|790999|791000|791001|791002|791003|791004|791005|791006|791007|791008|791009|810082|810095|810096|810103|810120|810133|815456|820258|820259|820260|820261|820262|820263|820266|820267|820268|820269|820270|820271|820272|820273|837410|837411|837412|837413|837414|837415|837416|837417|837418|837419|837420|837421|837422|837423|837424|837425|837426|837427|837428|837429|837430|837431|837432|837433|837434|837435|837436|837437|837438|837439|837440|837441|837442|837443|837444|837445|837446|837447|837448|837449|837450|837451|837452|837453|851395|852275|852280|858440|866490|866491|866492|866493|866494|866495|866496|866497|866498|866499|866500|866501|866502|866503|866504|866505|866506|866507|866508|866509|866510|925960|925961|925962|925963|925964|925965|925966|925967|925968|925969|925970|925971|925972|935217|935218|935219|935220|935221|935222|935223|935224|935225|935226|940182|940183|940185|940972|947117|947118|947119|947120|947121|947122|947123|947124|947125|947126|947127|956264|956265|956266|956267|956268|956269|960733", + "text": "PTEN hamartoma tumor syndrome" + }, + { + "baseId": "22852|22868|27386|27388|27393|27394|27395|27398|27403|27404|27405|27422|27641|27642|27652|28691|28692|28693|28694|28695|28696|28698|28939|29000|31650|40609|48304|48857|54392|54633|83949|100947|133272|133274|133276|133277|139098|150535|150855|151595|151732|151955|166215|166218|166563|171614|173901|176503|180995|181000|181005|185394|187953|213392|213398|213402|213943|222738|226760|236461|236463|236468|236469|236477|236479|242978|242980|245074|260191|263939|268527|359197|360335|361700|362753|362768|362770|362771|362772|362775|362777|362778|362822|362837|362894|362928|362929|362944|362954|363008|363088|363089|363123|363240|363253|363254|363265|363266|363267|363274|363275|363276|363277|363278|363279|363298|363299|363300|363301|363306|363307|363313|363332|363333|363336|363339|363349|363350|363351|363352|363353|363354|363357|363360|363361|363362|363363|363364|363365|363366|363367|363368|363369|363370|363371|363372|363373|363374|363375|363376|363377|363378|363382|363388|363389|363453|363454|363455|363456|363457|363458|363459|363460|363461|363462|363463|363464|363465|363466|363467|363468|363478|363479|363480|363481|363482|363483|363484|363485|363486|363487|363488|363489|363490|363494|363495|363496|363497|363498|363499|363500|363501|363502|363503|363504|363505|363506|363507|363508|363509|363510|363511|363512|363513|363514|363528|363529|363530|363531|363532|363533|363534|363535|363538|363542|363543|363544|363545|363546|363549|363550|363551|363560|363561|363562|363563|363564|363565|363566|363567|363568|363569|363570|363571|432404|432408|545734|581781|622947", + "text": "Glioblastoma" + }, + { + "baseId": "22852|27617|27618|27619|27621|27622|27623|27632|28691|28692|28694|28914|28939|29000|29005|29006|29008|29010|29011|29022|29760|31648|31650|31651|31652|40609|48247|48304|48834|48905|48938|48939|49251|53968|53969|53970|53980|53982|53983|53984|54152|54153|54155|54156|54157|54159|54160|54282|54283|54284|54289|54290|54291|54292|54387|54391|54392|54400|54404|54406|54411|54415|54418|54419|54420|54424|54425|54427|54429|54430|54446|54450|54632|54634|83949|132039|137844|172332|173901|174177|174179|174235|174248|174254|175713|175715|175854|175855|175857|176493|176631|176758|214513|216786|224866|227763|263939|267231|362750|362753|362757|362775|362798|362841|362846|362847|362857|362917|362954|362955|362956|362957|362958|362960|362961|362962|363011|363012|363013|363014|363015|363016|363019|363021|363022|363023|363123|363154|363155|363156|363159|363160|363161|363215|363219|363221|363224|363225|363234|625984", + "text": "Non-small cell lung cancer" + }, + { + "baseId": "22852|22858|22866|22872|22872|22887|22888|22889|22890|48267|48268|48269|50121|185731|187363|205765|207797|213602|224868|380154|408007|416944|419766|551779|677041|963155|971537", + "text": "Macrocephaly/autism syndrome" + }, + { + "baseId": "22853|22871", + "text": "Lhermitte-Duclos disease" + }, + { + "baseId": 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+ "text": "Neoplasm of brain" + }, + { + "baseId": 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+ "text": "Adenocarcinoma of prostate" + }, + { + "baseId": 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+ "text": "Adenocarcinoma of stomach" + }, + { + "baseId": "22868|23582|27407|27641|27642|27645|27646|27650|27652|28691|28692|28693|28694|28695|28696|28698|29022|30972|30973|32617|32618|32620|32625|36171|36173|40609|44227|48304|54633|80852|100947|133274|151732|166218|166563|171613|179419|181000|206650|213943|362773|362775|362777|362778|362837|362870|362871|362904|362905|362933|363008|363067|363068|363107|363108|363109|363113|363114|363123|363265|363266|363267|363280|363281|363282|363289|363290|363293|363294|363295|363296|363297|363298|363299|363300|363301|363302|363303|363304|363305|363306|363321|363322|363329|363336|363340|363341|363342|363343|363344|363345|363346|363347|363352|363353|363354|363355|363356|363357|363358|363359|363360|363361|363362|363363|363370|363371|363372|363373|363374|363375|363376|363377|363378|363388|363389|363420|363453|363454|363455|363456|363503|363504|363505|363506|363507|363508|363512|363513|363514|363536|363537", + "text": "Neoplasm of uterine cervix" + }, + { + "baseId": 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+ "text": "Uterine Carcinosarcoma" + }, + { + "baseId": 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+ "text": "Malignant neoplasm of body of uterus" + }, + { + "baseId": 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+ "text": "Squamous cell lung carcinoma" + }, + { + "baseId": "22868|27386|27395|27405|27407|27422|28117|28126|28694|28695|28698|29022|40609|132342|133271|133272|133276|133277|151595|151732|151955|171613|171614|185345|185366|185367|185375|185394|213402|213943|222738|232035|236461|236463|236469|236479|236481|242980|260192|360335|362775|362837|362894|362895|362896|363123|363209|363247|363248|363249|363250|363251|363352|363353|363354|363388|363469|363470|363471|363472|363478|363479|363480|363481|363484|363485|363486|363487|363488|363489|363490|363491|363492|363493|363531|363532|363533|363534|363535|363536|363537|363539|363540|363541|363545|363546|363547|363548|363553|363554|363555|363556|363557|363558|363559|363566|363567|363568|363569|363570|363571|462915|463279|463892|480540|568568", + "text": "Small cell lung carcinoma" + }, + { + "baseId": "22872|22882", + "text": "Proteus-like syndrome" + }, + { + "baseId": "22872|612150|612151|654622", + "text": "PTEN-related disorder" + }, + { + "baseId": "22879", + "text": "Glioma susceptibility 2" + }, + { + "baseId": "22880", + "text": "Vater association with macrocephaly and ventriculomegaly" + }, + { + "baseId": "22893|135209|214793|250439|283467|283472|283474|284153|284155|284156|284159|286058|286064|286079|286087|286090|286434|286437|286438|286440|286441|286442|539990|623251|883011|883012|883013|883014|883015|883016|883017|883018|883019|883020|883021|883022|883023|883024|883025|883026|883027|883028|883029|883030|883031|883032|883033|883034|883035|883036|883037|883038", + "text": "Maturity-onset diabetes of the young type 6" + }, + { + "baseId": "22894|22895|22896|256296|256297|256298|263862|329217|329218|329221|329223|329227|329228|329229|329230|339409|339413|339415|339417|339421|339422|339423|339424|339426|339430|339433|339434|339436|339437|339444|339446|339454|339456|339459|345222|345224|345229|345235|345241|345242|345244|345245|345251|345259|346630|346632|346633|346634|346635|346641|346642|346643|346648|346649|622042|625980|727329|788913|789310|789311|789312|794273|798719|801178|877992|877993|877994|877995|877996|877997|877998|877999|878000|878001|878002|878003|878004|878005|878006|880559|964488|970530", + "text": "Coxopodopatellar syndrome" + }, + { + "baseId": "22897|22898|22899|22900|22901|22902|39175|190855|191404|191688|257266|257267|257269|257270|257272|257273|257276|257277|257279|257282|257286|257287|257288|257293|270316|270572|272092|334731|334733|334735|334740|334741|344541|344546|344547|344548|344553|349574|349575|349578|349580|349582|349584|349585|350587|350590|350591|350594|404841|430277|470265|471339|471341|533421|533424|533450|533452|533455|533459|533460|533482|533489|533495|533499|533501|533961|533963|570291|572831|572832|572834|573435|575067|575068|578571|584124|584527|586257|648526|648527|648528|648529|648530|648531|648532|648533|648534|648535|648536|648537|648538|648539|648540|648541|648542|648543|648544|648545|716771|728488|728489|728490|728491|728492|742211|742212|742213|742214|742215|757340|757341|757344|757346|757347|760841|772975|772978|772980|772982|776642|776649|786315|786317|788229|821301|848158|848159|848160|848161|848162|848163|848164|848165|848166|848167|848168|848169|848170|848171|848172|848173|848174|848175|848176|848177|848178|848179|848180|848181|851838|852361|882729|882730|882731|882732|882733|882734|882735|882971|882972|882973|882974|882975|929130|929131|929132|929133|938895|940495|941249|950964|950965|950966|950967|958764|958765|958766|958767|958768|960307|960930|960931|960932|961984", + "text": "Hemophagocytic lymphohistiocytosis, familial, 5" + }, + { + "baseId": "22903|217245|576126|919089", + "text": "Essential hypertension" + }, + { + "baseId": "22904|429318", + "text": "Body mass index quantitative trait locus 4" + }, + { + "baseId": "22905|22912|227277", + "text": "Groenouw corneal dystrophy type I" + }, + { + "baseId": "22906|578556|578557|972509", + "text": "Thiel-Behnke corneal dystrophy" + }, + { + "baseId": "22907", + "text": "Lattice corneal dystrophy Type I" + }, + { + "baseId": "22908|22911", + "text": "Avellino corneal dystrophy" + }, + { + "baseId": "22909|22911|22915", + "text": "Reis-Bucklers' corneal dystrophy" + }, + { + "baseId": "22910|22914|227277", + "text": "Corneal dystrophy, lattice type 3A" + }, + { + "baseId": "22910|22917|47865|47870|47873|177662|177663|177664|177666|191114|227277|251427|251428|251670|251671|251672|251673|257339|257341|257342|257343|257344|257345|257346|257347|257348|292967|292968|292978|292980|292981|292982|292993|292995|292996|293003|293009|293018|293022|293032|293034|293040|294398|294407|294411|294415|294416|294417|294418|294421|294424|294425|294432|294433|294435|294439|294448|295350|295354|295362|295366|295368|295369|295370|297122|297128|297130|297131|297133|297139|297141|297143|297147|297155|297156|297157|297824|297840|297854|297855|297856|297857|297883|297885|297889|297890|297891|297892|297894|297898|297899|297903|297908|297909|297913|297916|297920|297929|297941|297956|297973|297990|300887|300896|300898|300899|300905|300906|300907|300909|300910|300911|300914|300916|300978|300979|300980|300989|300999|335146|335150|335155|335157|335160|335162|335165|335168|335169|344931|344934|344936|344938|344949|344951|344952|344954|344973|349799|349800|349803|350817|350819|350822|350823|350826|350828|350829|350833|350834|350835|350836|350841|429065|482318|482319|482320|486367|488711|620182|620183|620184|705429|705430|709273|709631|716900|716901|721224|728589|742316|742317|742319|742323|749220|749221|749222|757418|757421|757422|760946|773041|773042|773045|779126|780043|782145|786350|793835|793836|885955|885956|885957|885958|885959|885960|885961|885962|885963|885964|885965|885966|885967|885968|885969|885970|885971|885972|885973|885974|885975|885976|885977|885978|885979|885980|885981|887443|887444|887445|887446|887447|887448|887449|890529|890530|890531|890532|890533|890534|890535|890536|890537|890538|890539|890540|890541|890542|890543|890544|890545|890546|890547|890548|890549|890550|890551|890552|890553|890554|890555|890557|890558|890559|890560|890561|890562|890563|890564|890565|890566|890567|890568|890569|890570|890571|890572|890573|890574|890575|890576|891778|891779|891780|892904|892905|892906|892907|892908|892909|892910|892911|892912|892913|892914|892915|892916|892917|892918|892919|892920|892921|892922|892923|892924|892925|892926|892927|892928|896029", + "text": "Corneal dystrophy" + }, + { + "baseId": "22916|22917", + "text": "Corneal epithelial dystrophy" + }, + { + "baseId": "22918|22921|22921|22927|22927|22933|22933|22937|22937|22941|22942|22943|22944|22946|22948|22949|22950|98777|98777|104923|104959|104959|104972|104973|104997|105113|105173|105181|105183|105199|105200|105279|105292|105317|105320|105327|105394|152795|209342|237637|237682|259682|260778|260779|267810|361623|431632|513015|513016|513244|537088|578345|590238|623246|623247|623248|677405|677405|802124|818176|856058|905048", + "text": "Cone-rod dystrophy 3" + }, + { + "baseId": "22918|29068|29068|105002|137717|166347|172489|179185|196456|202392|244140|244158|244161|244165|250213|273116|354284|365691|384512|384515|384516|384522|384523|384524|384526|461251|461253|461443|461765|461772|461773|461779|461780|461782|462085|462090|462095|462097|462098|462104|526315|526316|526318|526350|526352|526354|526560|526568|526569|526834|526835|539127|551409|564792|565942|567386|567387|567392|567403|570761|570765|640231|640232|640233|640234|640235|693071|693072|693075|693076|804736|838673|838674|838675|838676|838677|838678|920542|926309|926310|935649|947549|947550|947551|956567", + "text": "Peripheral neuropathy" + }, + { + "baseId": "22918|22921|22927|22933|22933|22937|22940|22943|22946|24628|98774|98777|98777|104923|104959|104972|104997|105002|105003|105042|105100|105102|105113|105113|105154|105162|105172|105173|105199|105218|105236|105240|105262|105279|105287|105292|105302|105308|105317|105317|105320|105394|237637|237639|237652|237674|237680|237699|259682|283423|360815|360816|360817|361623|488481|623954|918661|918662|918663|918664|918665", + "text": "Age-related macular degeneration 2" + }, + { + "baseId": "22919|22923|22924|22942|22952|104927|104930|104931|104938|104954|104974|104990|105042|105058|105068|105082|105135|105147|105160|105200|105279|105285|105296|105297|105302|105329|105330|105332|105333|105337|105343|105380|105381|105383|105387|139937|139938|139942|139944|152793|177450|190742|191153|191957|191958|195765|237686|237695|237696|237704|250031|250033|253109|253876|253877|253878|253879|253881|253882|253883|253884|253886|267624|277559|281326|281328|281329|281332|281340|281341|281342|281346|281351|281359|281361|281367|281368|281373|281375|281378|281381|281972|281973|281986|281988|281995|281996|282000|282001|282006|283241|283246|283260|283261|283265|283266|283281|283282|283286|283290|283291|283298|283299|283386|283388|283391|283392|283399|283400|283402|283415|283422|283423|283434|283438|283441|283442|310098|310128|311355|311393|311413|311414|311416|311434|314246|314257|314263|316890|316938|316939|316940|316942|316946|316962|316991|322846|322929|322941|322943|322948|322950|322971|322982|322987|323329|323479|323481|323535|323560|323563|323569|323570|328900|353063", + "text": "Cone-Rod Dystrophy, Recessive" + }, + { + "baseId": "22919|22923|22924|22927|22931|22933|22942|22943|22951|22952|104923|104927|104930|104931|104942|104954|104959|104960|104974|104976|104990|104991|105001|105037|105042|105043|105044|105058|105067|105068|105082|105106|105128|105135|105147|105160|105163|105167|105169|105177|105190|105197|105199|105200|105230|105279|105285|105287|105292|105296|105297|105302|105323|105329|105330|105332|105333|105337|105343|105371|105380|105381|105383|105386|105387|105405|139937|139938|139941|139942|139943|139944|152791|152793|177451|191153|192960|195880|226523|231499|237641|237663|237671|237684|237686|237695|237696|237704|250033|250039|267624|271072|271852|273555|281326|281328|281329|281332|281340|281341|281342|281346|281351|281361|281365|281367|281368|281373|281972|281973|281986|281988|281995|281996|282000|282001|283241|283246|283260|283261|283265|283266|283281|283282|283286|283290|283291|283298|283299|283386|283388|283391|283392|283399|283400|283402|283415|283422|283423|283434|283437|283441|283442|365227|365257|365433|365528|405257|413236|421260|488481|493406|498851|620017|620018|620019|620729|622315|719137|732655|732656|824455|856028|857169|864838|864839|864840|864841|864842|864843|864844|864845|864846|864847|864848|864849|864850|864851|864852|864853|864854|864855|864856|864857|864858|864859|864860|864861|864862|864863|864864|864865|864866|864867|864868|864869|864870|864871|864872|864873|864874|864875|864876|864877|864878|864879|864880|865216|865217|865218|865219|865220|865221|865222|865223", + "text": "ABCA4-Related Disorders" + }, + { + "baseId": "22921|22927|22928|22933|22937|22943|22946|98777|104923|104959|104959|104972|104973|104995|104997|105113|105173|105181|105183|105192|105199|105292|105317|105320|105394|105394|237637|259682|267810|361623|677405", + "text": "Retinitis pigmentosa 19" + }, + { + "baseId": "22924|22927|22943|22952", + "text": "MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO" + }, + { + "baseId": "22931|105317|176969|177101|177232|178143|178144|178145|178146|195331|195671|195955|195956|195957|195958|195959|195960|195961|195962|195963|252020|252021|252022|252023|252024|252025|252026|252027|252028|252029|252030|252031|252032|252033|252034|252035|252036|252037|252038|298213|298214|298218|298219|298229|298230|298232|298238|298239|298243|298244|298249|298250|298251|298252|298256|298258|298265|298266|298274|298275|298279|298284|298285|298290|298291|298294|298298|298299|298302|298303|298304|298305|298306|298310|300523|300528|300534|300536|300537|300546|300553|300555|300557|300559|300560|300564|300565|300570|300571|300584|300585|300587|300588|300596|300597|300618|300619|300620|300622|300623|300624|304783|304785|304787|304788|304790|304792|304793|304794|304796|304797|304798|304799|304800|304801|304808|304823|304824|304828|304838|304839|304844|304848|304858|304859|304861|304864|304865|304875|304881|304882|304885|304886|304893|304899|304902|304905|305051|305066|305070|305071|305072|305073|305077|305078|305083|305089|305094|305107|305109|305110|305115|305116|305117|305119|305120|305122|305123|489874|513968|536136|551408|623988|623990|735244|831182|831183|831184|831214|831225|831229|894774|894775|894776|894777|894778|894779|894780|894781|894782|894783|894784|894785|894786|894787|894788|894789|894790|894791|894792|894793|894794|894795|894796|894797|894798|894799|894800|894801|894802|894803|894804|894805|894806|894807|894808|894809|894810|894811|894812|894813|894814|894815|894816|894817|894818|894819|894820|894821|894822|894823|894824|894825|894826|894827|894828|894829|894830|894831|894832|894833|894834|896140|896141|896142", + "text": "Vitreoretinopathy" + }, + { + "baseId": "22943", + "text": "Mandibulofacial dysostosis with mental deficiency" + }, + { + "baseId": "22945|22946|209346|966073|966083|966086", + "text": "Retinal dystrophy, early-onset severe" + }, + { + "baseId": "22953|227300|481156|539002", + "text": "Platelet-activating factor acetylhydrolase deficiency" + }, + { + "baseId": "22954|22955", + "text": "Asthma and atopy, susceptibility to" + }, + { + "baseId": "22956", + "text": "Cranioosteoarthropathy" + }, + { + "baseId": "22956|22957|22958|165835|165836|273624|292827|292832|292839|292840|292845|292849|292850|292856|292857|292865|292866|292870|292872|292876|292879|294230|294231|294232|294236|294243|294244|294245|294252|297628|297629|297630|297631|297632|297633|297647|297648|297652|297660|297664|297684|297685|297686|297706|297759|297760|297761|297764|297768|297769|297770|297792|353669|590273|698435|734522|781901|890456|890457|890458|890459|890460|890461|890462|890463|890464|890465|890466|890467|890468|890469|890470|890471|962033|962034", + "text": "Hypertrophic osteoarthropathy, primary, autosomal recessive, 1" + }, + { + "baseId": "22958|22959|273624|292827|292832|292839|292840|292845|292849|292850|292856|292857|292865|292866|292870|292872|292876|292879|294230|294231|294232|294236|294243|294244|294245|294252|297628|297629|297630|297631|297632|297633|297647|297648|297652|297660|297664|297684|297685|297686|297706|297759|297760|297761|297764|297768|297769|297770|297792|353669|698435|734522|781901|890456|890457|890458|890459|890460|890461|890462|890463|890464|890465|890466|890467|890468|890469|890470|890471", + "text": "Digital clubbing, isolated congenital" + }, + { + "baseId": "22960|22961|22962|22963|22964|22965|22966|249262", + "text": "Meesmann corneal dystrophy 1" + }, + { + "baseId": "22967|48345|48346|176954|192847|194604|291235|291343|623829|697706|799307|799308|802147|918784|918785|918786|918787", + "text": "Retinitis pigmentosa 33" + }, + { + "baseId": "22968|22969|22972|22973|22974|22977|22978|22979|22980|22982|22984|23347|23347|57270|76604|76605|76606|174402|174539|191976|227325|227326|244016|305811|309843|309847|315085|315202|404778|421688|457953|457954|457957|458600|458603|513072|523521|524023|524284|524294|524296|551558|562319|562492|565208|568091|637384|637385|637386|687317|711627|783152|798604|800834|818258|818259|819982|819983|819984|835026|835027|835028|835029|851209|851702|851704|925258|934416|940912|946175|946176|962717|963360", + "text": "Branchiootorenal Syndrome 1" + }, + { + "baseId": "22970|22971|22977|22982|22983|57264|57265|57269|57270|57271|57272|57273|174400|174402|174537|174538|174539|174540|191976|227326|229622|229623|305789|305793|305795|305799|305809|305811|305812|305813|305817|305820|305824|309803|309808|309827|309829|309835|309836|309837|309841|309843|309847|309855|309857|309858|309866|309868|309870|309884|309886|315036|315040|315043|315067|315069|315081|315083|315084|315085|315100|315101|315102|315105|315114|315194|315199|315201|315202|315204|315205|315206|315215|404778|493047|654755|677035|798603|899976|899977|899978|899979|899980|899981|899982|899983|899984|899985|899986|899987|899988|899989|899990|899991|899992|899993|899994|899995|899996|899997|899998|899999|900000|900513|900514|900515", + "text": "Branchiootic syndrome" + }, + { + "baseId": "22975", + "text": "Anterior segment anomalies and cataract" + }, + { + "baseId": "22976", + "text": "Anterior segment anomalies" + }, + { + "baseId": "22977", + "text": "Branchiootorenal syndrome with cataract" + }, + { + "baseId": "22977|22981|57264|57265|57269|57270|57271|57272|57273|174400|174537|174538|174539|174540|191976|227326|229622|229623|305789|305793|305795|305799|305809|305811|305812|305813|305817|305820|305824|305825|305826|305827|309803|309808|309827|309829|309830|309831|309833|309835|309836|309837|309841|309843|309847|309855|309857|309858|309866|309868|309870|309884|309886|309891|309902|309906|315036|315040|315043|315067|315068|315069|315070|315081|315083|315084|315085|315100|315101|315102|315105|315114|315185|315187|315194|315199|315201|315202|315204|315205|315206|315215|353843|404778|493047|654522|899976|899977|899978|899979|899980|899981|899982|899983|899984|899985|899986|899987|899988|899989|899990|899991|899992|899993|899994|899995|899996|899997|899998|899999|900000|900513|900514|900515|919173|919174", + "text": "Otofaciocervical syndrome 1" + }, + { + "baseId": "22985|22986|22987|22988|22989|22990|22991|22992|22993|22994|22995|22997|22998|22999|23000|39161|190231|190232|193402|277404|277405|277408|277409|277410|277411|277612|277613|277616|277619|277620|277621|277632|277639|278472|278478|278479|278480|278492|278493|278495|278503|278517|614159|731877|862803|862804|862806|862807|862808|862809|862810|862811|862812|862813|862814|862815|862816|862817|862818|862819|862820|862821|862822", + "text": "Glaucoma 1, open angle, A" + }, + { + "baseId": "22994", + "text": "Glaucoma 1, open angle, a, autosomal recessive" + }, + { + "baseId": "22994|190231|193402|247362|277404|277405|277408|277409|277410|277411|277612|277613|277616|277619|277620|277621|277632|277639|278472|278478|278479|278480|278492|278493|278495|278503|278517|360918|360999|389344|731877|862803|862804|862805|862806|862807|862808|862809|862811|862812|862813|862814|862815|862816|862817|862818|862819|862820|862821|862822", + "text": "Glaucoma" + }, + { + "baseId": "22996", + "text": "Glaucoma 1, open angle, a, digenic" + }, + { + "baseId": "22997", + "text": "Glaucoma 3, primary congenital, a, digenic" + }, + { + "baseId": "22997|619971|619972|619973", + "text": "MYOC-Related Disorders" + }, + { + "baseId": "23001", + "text": "Spinal muscular atrophy, modifier of" + }, + { + "baseId": "23001|24203|24204|24207|24208|24209|24211|24212|24215|24217|48111|48112|48113|424702|622775|622789|626372|858314", + "text": "Kugelberg-Welander disease" + }, + { + "baseId": "23002|23003|23004|23005|23006|23007|23008|23009|23010|23011|26848|26850|26857|26863|26872|39160|102150|102152|102153|102154|102156|102157|102158|102159|139891|139892|139893|139894|139895|139896|139897|139898|139899|139900|139901|139902|139903|139904|139905|139906|139907|139908|139909|139910|139911|139912|141585|141586|141587|141588|141589|141590|153060|153104|153122|153258|153570|165745|165746|165747|165748|165749|165750|165751|165752|165753|165754|165755|165756|165757|165758|165759|165760|165761|165762|165763|165764|165765|165766|165767|165768|165769|165770|165771|165772|165773|165774|165775|165776|165777|165778|165779|165780|165781|165782|165783|165784|165785|165786|165787|165788|165789|165790|165791|165792|165793|165794|165795|165796|165797|165798|165799|165800|165801|165802|165919|165920|165921|165922|165923|165924|165925|165926|165927|165928|165929|165930|165931|165932|165933|165934|165935|165936|165937|165938|165939|165940|165941|165942|165943|165944|165945|165946|165947|165948|166474|166478|166533|169077|169078|169079|169083|169084|169085|169086|169087|169088|169089|169090|169091|169092|169093|169094|169095|169096|169097|169098|169099|169100|169101|169102|169103|169104|169105|187486|193733|196435|196438|196439|205805|208160|208161|208162|208163|208164|208165|208169|213632|215013|215015|242023|264716|360214|361963|373993|400542|400846|404014|409190|409191|409195|429625|429627|429628|439324|463959|464538|464761|464765|464796|464802|491540|492278|512117|528617|528969|528974|528982|529041|550660|566886|568553|568557|568563|568615|568620|569188|569191|569216|569219|569220|569224|573133|573137|573140|573142|580004|614015|614017|614020|614021|614136|642994|642995|642996|642997|642998|642999|643000|643001|643002|680053|688393|693648|754325|770057|778228|788886|791432|791433|791434|791435|791436|802004|820665|820666|820669|842080|842081|842082|842083|842084|842085|842086|842087|842088|842089|842090|842091|842092|858691|906351|927258|927259|927260|936829|936830|936831|936832|940321|941079|948780|948781|948782|948783|948784|962873|962874|962875|969569|972727|973104|983697", + "text": "Angelman syndrome" + }, + { + "baseId": "23012|23013|23014|23015|23016|23016|23017|23018|23019|23021|23023|28324|31379|138125|138127|138129|138131|139286|193378|193379|236942|236942|252665|253699|253700|253704|253706|268579|268591|309577|309579|309582|309583|309584|309585|309587|309588|309600|309606|309607|309608|314366|314367|314377|314378|314379|314389|314395|314396|314414|314416|314418|314419|314420|314421|314431|320436|320439|320440|320447|320448|320459|320461|320462|320467|320469|320470|320865|320874|320875|320877|320883|320884|320908|320909|320916|320920|320934|320936|320937|320942|320947|415094|415094|431983|456538|456820|456935|456940|457165|457597|457599|503156|522519|522755|522762|522825|522829|522830|523183|561759|561768|566649|566651|566659|566662|569547|635970|635971|635972|635973|635974|635975|635976|679249|682491|692201|692202|699993|701223|737381|790715|815986|833416|833417|865489|865490|865491|865492|865493|865494|865495|865496|865497|865498|865499|865500|865501|865502|865503|865504|865505|865506|865507|865508|865509|865510|865511|865512|865513|865514|868451|868452|868453|919097|924782|933812|933813|955106|955107|962161|969280|969281|969289", + "text": "Saethre-Chotzen syndrome" + }, + { + "baseId": "23016|23023|23024|23025|70565|70566|70567|236942|236942|252665|361136|415094|456538|456820|456935|456940|457597|457599|468850|469875|469877|470296|470299|470963|522519|522755|522762|522825|522829|522830|523183|533064|533066|533147|533175|561759|561768|566649|566651|566659|566662|570836|574986|635970|635971|635972|635973|635974|635975|635976|689088|689089|692201|692202|694439|694442|695828|699993|705042|741931|786211|790715|833416|833417|847754|924782|928988|928989|933812|933813|938718|938719|950815|955106|955107|958651|962161", + "text": "Craniosynostosis 1" + }, + { + "baseId": "23020|23023|236942", + "text": "Robinow-Sorauf syndrome" + }, + { + "baseId": "23022", + "text": "Saethre-Chotzen syndrome with eyelid anomalies" + }, + { + "baseId": "23026|23027|23028|23029|40565|195350|254425|254427|266615|273010|316116|316117|316121|316123|316124|316126|316128|316129|316142|316145|316146|316147|316152|316154|316155|316157|316158|316160|316161|323363|323366|323367|323370|323374|323375|323377|323391|323392|323394|323395|323412|323416|323417|323428|323440|323441|323443|323444|329568|329569|329575|329587|329588|329594|329595|329596|329599|329601|329613|329616|329617|329631|329632|329633|329640|329644|329646|329647|329649|329658|330721|330728|330730|330731|330735|330740|330744|330752|330755|330757|330759|330761|330765|330768|330769|330770|330771|330777|330783|330793|330794|330798|330802|330806|330830|404621|490883|566344|581960|584835|702145|702146|724903|852437|869345|869346|869347|869348|869349|869350|869351|869352|869353|869354|869355|869356|869357|869358|869359|869360|869361|869362|869363|869364|869365|869366|869367|869368|869369|869370|919412|926470|960775", + "text": "Ulnar-mammary syndrome" + }, + { + "baseId": "23030|23031|23032|23033|23034|23035|23036|23037|23038|45761|143119|165589|178439|192196|194372|195854|209426|209429|209430|209431|209432|209434|209436|209439|209440|209441|209442|209444|210203|210214|210215|210216|224188|226714|237520|238210|249731|254419|254420|254421|257940|258718|260009|264579|273935|279092|280529|316066|316067|316071|316075|316077|316078|316080|316081|316107|316108|316113|316115|323314|323321|323332|323333|323334|323336|323338|323352|323354|323360|329524|329530|329531|329534|329536|329539|329540|329542|329548|329549|329556|329557|329564|329565|329567|330635|330639|330642|330645|330646|330652|330658|330659|330664|330671|330672|330673|330674|330675|330681|330690|330696|330698|330700|330704|330706|353903|361158|361746|364644|364755|364782|364894|390968|390985|391030|391044|391046|391063|391064|434565|442719|444920|447488|447491|447497|447499|447623|447624|447625|447630|447783|447790|447794|461851|481488|486712|498297|509132|510351|510353|510354|514885|515538|515541|515548|515571|515585|552355|556784|556786|556788|556856|557147|557149|557151|558345|566343|571281|614044|622152|622153|622154|622155|622156|622157|622158|622159|622160|622161|622162|622163|622164|622165|622166|622167|622168|622169|622170|622171|622172|622173|622174|622175|622176|622177|622178|622179|622180|622181|622182|622183|622184|622185|622186|622187|622188|622189|622190|622191|622192|622193|622194|622195|622196|622197|622198|622199|622200|622201|622202|622203|622204|622205|622206|627369|627370|627371|627372|627373|627374|627375|627376|627377|650543|650569|690019|791198|794581|818752|818926|818927|818928|818929|818930|823471|823472|823473|823474|823475|823476|823477|858254|869318|869319|869320|869321|869322|869323|869324|869325|869326|869327|869328|869329|869330|869331|869332|869333|869334|869335|869336|869337|869338|869339|869340|869341|869342|869343|869344|872192|917104|921845|921846|921847|930326|930327|941763|941764|941765|941766|941767|952300|952301|952302|960024", + "text": "Holt-Oram syndrome" + }, + { + "baseId": "23032|23034|45781|45782|192196|195854|210203|210214|210215|210216|241240|242093|242094|242095|242096|242097|242098|242100|242101|254420|258715|258718|264579|329557|363991|398451|398833|398835|398842|398963|398968|400288|400289|400291|400294|400304|400307|400314|400316|400450|400453|400795|400797|400802|401078|404705|429714|444920|461633|461851|462123|462188|462426|462429|464428|464444|465055|465060|465062|465069|465070|465242|465246|465312|465323|465332|487554|487573|490889|510348|510353|510354|526687|526920|527252|528990|528992|529089|529584|565055|565056|566342|566343|567675|569043|571275|571277|571281|581908|622175|623399|640641|640642|640643|643477|643478|643479|643480|643481|643482|643483|643484|643485|643486|643487|643488|643489|643490|643491|643492|643493|643494|652165|652207|652365|687885|688465|688466|688470|693726|695550|703296|820445|839327|839328|839329|839330|839331|839332|839333|839334|839335|839336|842605|842606|842607|842608|842609|842610|842611|842612|842613|842614|842615|842616|842617|851476|852434|852608|926469|927399|927400|937024|937025|937026|937027|937028|947791|948981|948982|956749|956750|956751|957474|957475|957476|957477|960024", + "text": "Aortic valve disease 2" + }, + { + "baseId": "23039|23040|171809", + "text": "Hypotrichosis-lymphedema-telangiectasia syndrome" + }, + { + "baseId": "23041|427113", + "text": "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome" + }, + { + "baseId": "23042|23043|23044|23045|23046|23047|23048|23049|205171", + "text": "Fundus albipunctatus, autosomal recessive" + }, + { + "baseId": "23042|23044|23045|28052|28059|28084|28136|98753|98754|104543|104548|104554|104561|104573|104592|104611|142607|142608|142609|142611|177987|194294|205171|252356|254632|254633|254634|264695|265976|268054|270098|300152|300154|300156|300157|300161|300164|300166|300167|300169|300173|302873|302878|302879|302880|302885|302916|302918|302926|302934|302935|302948|302949|302951|302953|302954|302960|302962|302963|307343|307353|307354|307355|307361|307363|307369|307552|307564|307565|307570|307575|307578|307579|307586|318026|318030|318034|318036|318037|323448|323451|323456|323458|323459|323460|323461|323472|323473|325932|325933|332162|332164|332165|332166|332169|333147|333149|333151|333153|333160|333162|333163|333663|339985|339987|339991|339993|339996|339999|341371|341373|341378|341381|341382|341384|341387|372463|373168|413340|489877|513938|585498|612436|622998|623998|699595|726328|800576|800577|800578|800597|818312|831963|870170|870171|870172|870173|870174|870175|870176|870177|870178|872268|874211|874212|874213|874214|874215|874216|874217|874218|874219|874220|874221|874222|874223|874224|876583|876584|876585|896283|896284|896285|896286|896287|896288|896289|896290|896291|896292|896293|896294|896295|896296|896297|896298|896299|896300|896301|896302|896303|896304|918798|919029|919030|919456", + "text": "Pigmentary retinal dystrophy" + }, + { + "baseId": "23050|23051|23052|23053|23054|23055|23056|94358|176002|176003|176005|176010|176145|176146|176147|176150|176152|176153|199803|230624|230625|230627|230628|230629|324640|324641|324644|324647|324648|324650|324651|324653|324655|324656|324659|324660|324661|324665|324666|324677|324679|324712|324715|324747|324750|324751|334180|334182|334184|334187|334190|334194|334196|334197|334202|334203|334207|334209|334215|334217|334226|334237|334240|334244|334245|334286|334287|334289|334292|334293|334294|334341|334342|334346|340870|340871|340873|340874|340875|340882|340883|340886|340890|340896|340897|340901|340903|340905|340906|340909|340911|340912|340929|340930|340933|340934|340937|340938|340941|340945|340974|342285|342290|342291|342295|342300|342303|342306|342321|342323|342328|342335|342339|342341|342342|342344|342347|342355|342390|342393|342394|342396|342398|342400|342405|342411|342453|342464|342467|439886|442562|497075|497474|497691|513355|588018|610685|623382|623383|623384|623385|654797|677037|677057|682734|714808|726505|755018|800405|804865|804866|804867|804884|858572|874851|874852|874853|874854|874855|874856|874857|874858|874859|874860|874861|874862|874863|874864|874865|874866|874867|874868|874869|874870|874871|874872|874873|874874|874875|874876|874877|874878|874879|874880|874881|874882|874883|874884|874885|874886|874887|874888|874889|874890|874891|874892|874893|874894|874895|874896|874897|874898|874899|874900|874901|874902|874903|874904|874908|874909|874910|874912|874927|874928|874929|874930|874931|874932|874933|874934|874935|876638|876639|876640|876641|876642|903609|921218|921219|921220|921223|961017|962172|962173|962174|962175|965231|965928|966782|969612|973040|975949|975950|980956|983798", + "text": "Surfactant metabolism dysfunction, pulmonary, 3" + }, + { + "baseId": "23057|23058|207093|207094|207095|207095|209349|251310|291890|291891|291896|291898|291902|291906|293293|293297|293299|293300|293301|293306|296572|296582|296591|296595|296611|296612|296615|296621|296622|380212|380212|380213|452829|539993|539993|631856|631857|631858|631859|691490|691491|790429|790430|828651|828652|889845|889846|889847|889848|889849|889850|889851|889852|889853|889854|889855|889856|889857|889858|889859|889860|889861|891725|891726|891727|943736", + "text": "Deficiency of 3-hydroxyacyl-CoA dehydrogenase" + }, + { + "baseId": "23059|23060|48081|48082|48083|207093|207094|207095|207095|251310|291891|291896|291898|291902|293293|293297|293299|293301|293306|296572|296591|296595|296611|296612|296615|296621|296622|380212|380212|539993|539993|631858|889845|889846|889847|889848|889849|889850|889851|889852|889853|889854|889855|889856|889857|889858|889859|889860|889861|891725|891726|891727", + "text": "Hyperinsulinemic hypoglycemia, familial, 4" + }, + { + "baseId": "23061|23062", + "text": "Malignant rhabdoid tumor, somatic" + }, + { + "baseId": "23063|23064|23069|131900|138996|195650|243638|243639|243651|243652|337610|337611|337626|347199|347201|347202|351195|351197|351200|351201|351204|352216|352217|352219|379825|403784|403820|403825|403839|404300|404323|404331|469839|469843|469939|469954|469958|469960|469961|469974|469984|470849|470916|471303|471397|471803|534031|534083|534095|534169|534170|534182|534195|534615|571721|571724|571725|571744|571748|573289|573290|573292|573294|573966|573969|573971|575217|575218|683150|890931|890932|890933|890934|890935|890936|890937|890938|890939|891811", + "text": "Rhabdoid tumor predisposition syndrome 1" + }, + { + "baseId": "23066", + "text": "Schwannomatosis 1, somatic" + }, + { + "baseId": "23071|23072|23073|23074|23075|23076|23077|165691|236909|332860|332863|332864|332868|332869|332872|332886|332888|332889|332892|343055|343059|343064|343071|343072|343074|343076|348401|348402|348404|348405|348411|348413|348415|348416|348418|348419|349560|349563|349564|349565|349569|349570|349573|413501|469489|469490|469492|469928|470532|470534|512878|532761|532765|532784|532853|532855|532857|533216|533218|533224|570604|570608|570609|572287|572289|572978|572982|572983|572988|572990|572992|574911|574916|574917|647820|647821|647822|647823|647824|647825|647826|647827|647828|647829|647830|647831|647832|647833|647834|647835|647836|647837|647838|647839|647840|647841|647842|653610|704854|716291|716293|716294|728036|741712|741713|741714|741715|741717|741718|745385|791916|821244|847436|847437|847438|847439|847440|847441|847442|847443|847444|847445|851803|851805|852322|852966|880161|880162|880163|880164|880165|880166|880167|880168|880169|880170|880171|880172|880173|880174|880175|880176|880177|880178|880179|880180|880181|880182|880721|928896|928897|928898|928899|938616|938617|938618|938619|938620|940477|941227|941228|941229|950714|950715|950716|950717|950718|950719|950720|958572|958573|958574|958575|958576|958577", + "text": "Immunodeficiency 30" + }, + { + "baseId": "23078|23079|23080|23081|23082|23083|34210|34211|34212|34213|300562|300569|300572|300577|300586|303402|303421|303428|303454|303517|308010|308011|308016|308094|308097|353795|360879|590168|590459", + "text": "Char syndrome" + }, + { + "baseId": "23085|33384|33386|33387|33388|33389|33392|33394|33396|33397|33398|33399|33401|134200|134201|134202|134203|187128|194325|196197|207598|207599|244115|244116|256400|256405|266273|268552|329773|329776|329779|329781|329782|329784|340069|340071|340073|340075|340079|340083|345775|345776|345778|345779|345783|345788|346460|347169|347170|347173|347175|347178|347179|347186|468837|469078|481350|513646|532150|572244|574612|589390|612320|620605|694200|694201|741011|801686|801687|801691|878369|878370|878371|878372|878373|878374|878375|878376|878377|878378|878379|878380|878381|878382|878383|878384|880575|880576", + "text": "Congenital myasthenic syndrome 4C" + }, + { + "baseId": "23085|23085|23086|23087|23088|23089|23090|23090|23091|23092|23093|23094|23094|23095|23095|23096|135535|135536|135537|135538|188076|236991|236991|254190|254191|254191|254193|254194|254194|254196|254196|254197|254199|254199|259249|269662|272237|272237|314298|314302|314302|314303|314304|314310|314311|320894|320895|326952|326961|326961|326964|326964|326966|326966|326967|326967|326969|327989|327990|327992|327993|328006|328006|328008|328008|328017|328017|429242|441429|461171|461173|461192|461192|461196|461377|461384|461384|461702|461704|461705|462027|462028|503668|525851|526258|526259|526260|526291|526292|526294|526479|538423|546445|564725|564727|564728|564734|564737|565864|567327|567332|570703|620404|640135|640136|640137|640138|640139|640140|640141|640142|640143|640144|640145|640146|640147|640148|640149|677435|677436|677436|693055|693056|693057|693058|701788|701788|738012|738013|738014|738015|738016|738017|752698|768481|784019|784022|784023|791143|820380|820381|838547|838548|838549|838550|838551|838552|838553|838554|838555|851439|868105|868106|868107|868108|868109|868110|868111|868112|868659|868660|868660|926266|926267|926268|926269|935592|941000|947496|947497|947498|956525|956526|956527|956528|956529|956530", + "text": "Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency" + }, + { + "baseId": "23096|23097|23098", + "text": "Fetal akinesia deformation sequence 2" + }, + { + "baseId": "23099|44208|48633|48778|247414", + "text": "Schinzel phocomelia syndrome" + }, + { + "baseId": "23100", + "text": "Fuhrmann syndrome" + }, + { + "baseId": "23109", + "text": "Pancreatitis, chronic, protection against" + }, + { + "baseId": "23110|207396|215332|512819|512820|512905|919019|919020", + "text": "Spinocerebellar ataxia type 1" + }, + { + "baseId": "23111", + "text": "Malattia leventinese" + }, + { + "baseId": "23111|99387|104603|177692|189104|191177|250749|268069|286823|286824|286827|286833|286834|286838|286839|286840|286844|286848|286853|286860|286861|286871|287571|287574|287576|287578|287584|287585|287594|287595|287598|287606|287616|287618|289961|289962|289965|289966|289970|289978|289979|289980|289983|289985|289990|289992|290381|290391|290392|290399|290401|290402|826845|885225|885226|885227|885228|885229|885230|885231|885232|885233", + "text": "Doyne honeycomb retinal dystrophy" + }, + { + "baseId": "23112|23113|23114|23116|23117|23118|23120|23121|34027|34028|34029|34032|34033|34034|51341|51342|169332|169333|169334|169335|169336|169337|169338|169339|169340|169341|169342|169343|169344|169345|169346|169347|169348|169349|169351|169352|169353|169354|169355|169356|169357|169358|169360|169361|169362|169363|169364|169365|169366|169367|169368|169369|169370|169372|169373|169374|169375|169376|169377|169378|169379|169380|169381|169383|169384|169385|169386|169387|169388|169389|169390|169391|169392|169393|169394|169395|169396|169397|169398|169399|198639|205783|208372|208373|208374|208375|208377|208378|208379|208380|208381|208382|208383|208384|208385|208386|208387|208388|208389|374902|422153|429954|429955|429958|429959|486766|486767|536018|550371|552200|800675|919715|919716|920368|971073|971074", + "text": "Lissencephaly due to LIS1 mutation" + }, + { + "baseId": "23115|23119|23120", + "text": "Subcortical band heterotopia" + }, + { + "baseId": "23122|23123|23124|23125|23126|23127|23131|23132|39153|177947|177947|181382|193745|195045|195045|223009|251311|251311|267620|267620|292026|292033|293465|296770|296774|296776|296778|296779|296782|296783|296786|362187|362188|362189|362190|362191|362192|362193|362194|362211|453264|453604|453633|550314|631860|631861|631862|651151|683185|819438|828670|828671|828672|889930|889931|889932|889933|889934|889935|889936|889937|889938|889939|889940|889941|889942|889943|889944|889945|889946|889947|889948|889949|889950|889951|889952|889953|889954|889955|889956|889957|889958|889959|889960|889961|889962|889963|889964|889965|889966|889967|889968|889969|889970|891736|891737|923382|932116", + "text": "Axenfeld-Rieger syndrome type 1" + }, + { + "baseId": "23128|23129|177947|193745|195045|195045|251311|267620|292026|292032|292033|293465|296771|296774|296776|296778|296779|296783|453264|453604|453633|550314|631860|631861|631862|651151|819438|828670|828671|828672|889930|889931|889932|889933|889934|889935|889936|889937|889938|889939|889940|889941|889942|889943|889944|889945|889946|889947|889948|889949|889950|889951|889952|889953|889954|889955|889956|889957|889958|889959|889960|889961|889962|889963|889964|889965|889966|889967|889968|889969|889970|891736|891737|923382|932116|976009", + "text": "Anterior segment dysgenesis 4" + }, + { + "baseId": "23130", + "text": "ANTERIOR SEGMENT DYSGENESIS 4, PETERS ANOMALY SUBTYPE" + }, + { + "baseId": "23133|177947|181382|193745|195045|251311|267620|292026|292032|292033|293465|296770|296771|296774|296776|296778|296779|296782|296783|296786|550314|889930|889931|889932|889933|889934|889935|889936|889937|889938|889939|889940|889941|889942|889943|889944|889945|889946|889947|889948|889949|889950|889951|889952|889953|889954|889955|889956|889957|889958|889959|889960|889961|889962|889963|889964|889965|889966|889967|889968|889969|889970|891736|891737", + "text": "Ring dermoid of cornea" + }, + { + "baseId": "23134|23135|23136|23137|23139|23140|23141|23142|23143|23144|23145|23146|45360|171274|186696|186697|186698|190499|193593|193594|193595|270520|271138|271752|272474|297136|297140|299071|299077|299078|299079|299084|303311|303312|303456|303457|303459|303460|303477|357412|357413|357414|357415|357416|357417|411512|543400|543402|543405|543680|543682|543684|543687|543692|543743|543744|543851|543852|543858|620782|735033|735034|735035|749439|759395|765044|765047|880753|894006|894007|894008|894009|894010|894011|894012|978160|978161|978162|978163", + "text": "Pituitary hormone deficiency, combined 2" + }, + { + "baseId": "23137|45355|45360|45362|45363|190536|264501|264513|307574|317872|655931|700889|723452|737004|751543|751546|767274|767277|775535|783348|783349|783350|901515", + "text": "Pituitary hormone deficiency, combined" + }, + { + "baseId": "23147|23147|23148|23149|198651|198653|247436|251872|251873|251874|251875|251876|251877|251878|297248|297251|297252|297253|297254|297255|297258|297268|297271|297272|297273|297284|297289|299232|299241|299249|299252|299253|299254|299262|299267|299269|299303|303455|303458|303461|303472|303473|303667|303668|303669|303673|303676|303679|440880|440881|455009|455013|455485|455488|521095|521355|560408|563088|633839|633842|633843|691838|830771|830772|894059|894060|894061|894062|894063|894064|894065|894066|894067|894068|894069|894070|894071|894072|894073|894074|894075|894076|894077|894078|894079|894080|894081|896087|896088", + "text": "Paget disease of bone 3" + }, + { + "baseId": "23147|23147|198652|198654|247436|964252|964254", + "text": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 3" + }, + { + "baseId": "23147", + "text": "Spastic paraplegia-Paget disease of bone syndrome" + }, + { + "baseId": "23147|23149|40108|181180|181181|198653|198654|247436|251872|251874|251876|251877|251878|260472|297254|297255|299249|303455|308075|308076|308078|308079|308104|312434|312437|312449|312464|312466|312470|312471|312472|318222|318223|318224|318227|318229|318239|318250|318251|318258|318312|318318|318327|318331|318747|318759|318761|318764|318767|318774|318781|318790|368605|368616|406734|440879|440880|440881|454867|454870|454871|454874|455001|455004|455006|455009|455013|455014|455474|455485|455486|455488|455490|455492|455723|495500|521095|521353|521355|521466|521476|521644|521649|560406|560408|560410|563086|563088|576805|633830|633831|633832|633833|633834|633835|633836|633837|633838|633839|633840|633841|633842|633843|633844|633845|633846|633847|651328|691836|691837|691838|691839|691840|699040|699043|699044|709848|721414|721415|744221|749450|765071|777447|777539|777547|782265|819585|830757|830758|830759|830760|830761|830762|830763|830764|830765|830766|830767|830768|830769|830770|830771|830772|851907|894062|901850|901851|901852|901853|901854|901855|901856|901857|901858|901859|901860|901861|901862|901863|901864|901865|901866|901867|901868|901869|901870|901871|901872|901873|901874|901875|901876|901877|901878|901879|901880|903384|924020|924021|924022|924023|924024|924025|924026|944580|944581|944582|944583|944584|954148|954149|954150|959763", + "text": "Amyotrophic lateral sclerosis and/or frontotemporal dementia 1" + }, + { + "baseId": "23150|271706|815862", + "text": "Frontonasal dysplasia 3" + }, + { + "baseId": "23151", + "text": "Asthma-related traits, susceptibility to, 7" + }, + { + "baseId": "23153", + "text": "Amyotrophic lateral sclerosis 13" + }, + { + "baseId": "23154|23155|318792|318794|318802|318810|327161|327170|327172|327177|327180|327181|327182|333285|333287|333291|333297|333304|333306|333307|333308|333313|335002|335013|335016|335017|335024|335038|335049|335050|335054|335055|441569|482339|550774|713807|861577|870628|870629|870630|870631|870632|870633|870634|870635|870636|870637|870638|870639|870640|870641|919477|919478|964913", + "text": "Spinocerebellar ataxia type 27" + }, + { + "baseId": "23158|23159|23160|23161|23162|23163|98685|98687|98689|98690|98691|98692|98693|98694|98695|98696|98698|177104|190241|190969|191328|195870|195870|195870|214063|214065|226048|226049|237362|252357|252358|252359|252360|252362|269776|272293|274317|300179|300182|300186|300189|300197|300199|300199|300203|302969|302972|307370|307373|307376|307590|307592|307593|307594|307602|307602|490533|491040|493841|494209|535310|543630|543632|543634|543634|543636|543641|543641|543648|543652|543654|543654|543656|543658|543661|543664|543665|543951|543955|543957|543958|543959|543960|543962|543964|543980|543982|543984|544076|544081|544083|544089|544091|544092|544093|544098|544100|544108|544114|544118|544120|544123|586251|587246|610615|620229|620230|765689|782548|790631|896305|896306|896307|896308|896309|896310|896311|896312|896313|896314|896315|896316|896317|896318|896319|900229|900230|906150|906150|919031|919032|961774|962189", + "text": "Peroxisome biogenesis disorder 4a (zellweger)" + }, + { + "baseId": "23164|23165|39151|191328|191328|195870|195870|214063|214063|214065|226048|226049|252358|272293|300199|307602|485898|487200|490137|490533|535310|543630|543632|543634|543636|543641|543648|543652|543654|543656|543658|543661|543664|543665|543951|543955|543957|543958|543959|543960|543962|543964|543980|543982|543984|544076|544081|544083|544089|544091|544092|544093|544098|544100|544108|544114|544118|544120|544123|906150|961774", + "text": "Peroxisome biogenesis disorder 4B" + }, + { + "baseId": "23166|23167|23168|324541|324550|324553|324558|324559|324568|334066|334073|334079|334085|334086|334091|334093|334095|334110|334111|334114|334119|334125|334126|334128|334129|334136|334137|334138|340798|340801|340804|340806|340809|340811|340812|340816|340817|340818|340819|340820|340822|340828|340829|342197|342202|342209|342212|342213|342214|342215|342216|342219|703533|714777|726471|754964|791529|874807|874808|874809|874810|874811|874812|874813|874814|874815|874816|874817|874818|874819|874820|874821|874822|874823|874824|964443", + "text": "Acid-labile subunit deficiency" + }, + { + "baseId": "23170", + "text": "Diabetes mellitus, noninsulin-dependent, modifier of" + }, + { + "baseId": "23170", + "text": "Obesity, modifier of" + }, + { + "baseId": "23170", + "text": "Body mass index, modifier of" + }, + { + "baseId": "23170", + "text": "Intimal medial thickness of internal carotid artery, modifier of" + }, + { + "baseId": "23175|23176|23178|23180|23181|23182|23183|135465|288404|288413|288431|288432|289177|292190|292296|292303|292305|292306|292310|354171|428113|428114|428116|428117|428118|428120|428124|428125|887759|887767|887768|887769|887770|964214|964215|970750", + "text": "Familial partial lipodystrophy 3" + }, + { + "baseId": "23175|23178|23179|135465|288404|288413|288431|288432|289177|292190|292296|292303|292305|292306|292310|428113|887759|887767|887768|887769|887770", + "text": "Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension" + }, + { + "baseId": "23175|77785|77849|172489", + "text": "Lipodystrophy (disease)" + }, + { + "baseId": "23177", + "text": "PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA POLYMORPHISM" + }, + { + "baseId": "23178|28917|48019", + "text": "Glioma susceptibility 1" + }, + { + "baseId": "23179|23746", + "text": "Diabetes mellitus, type II, digenic" + }, + { + "baseId": "23184", + "text": "Spermatogenic failure, susceptibility to" + }, + { + "baseId": "23185|23186|23187|23188|23189|23190|175740|228209|228210|228211|228212", + "text": "Deafness, autosomal dominant 48" + }, + { + "baseId": "23199|75129|134162|192530|254938|320449|320455|320460|329222|329224|329226|329233|329236|329237|335822|335824|335835|335844|335849|337732|337734|337752|337753|337759|374238|463731|566411|567771|572600|642350|642351|642352|652860|754026|760301|769791|788881|820619|841362|871819|871820|871821|871822|871823|871824|871825|871826|871827|871828|871829|871830|871831|871832|871833|871834|871835|927026|948534|948535|957201|960088", + "text": "Nemaline myopathy 7" + }, + { + "baseId": "23200|23201|40611|40612|44204|44205|44290|44291|44292|44293|44294|44295|44296|44297|44298|44299|44300|54547|54551|54552|54553|54555|54556|54557|54558|54559|54560|54562|54564|54565|54566|54567|54568|54569|54570|54572|54574|54576|54577|54578|54579|54582|54583|54586|54587|54589|54590|54591|175401|175402|175403|175404|175405|175406|175545|175547|175551|175552|175705|175710|175845|175846|175850|188840|189894|189898|189903|189905|198377|198378|198380|224439|230292|230293|230294|230295|230297|230300|230301|241531|241532|241533|241534|241535|241536|241537|266600|316674|316679|316681|324150|324151|324154|324155|324156|330171|330176|330194|331585|331595|360036|372903|372917|373130|373141|374951|398885|398886|398898|398902|399039|399048|399054|399057|399058|399060|399352|399356|399359|399360|399595|399600|399603|408617|415329|444960|444961|462067|462071|462073|462320|462324|462325|462332|462333|462335|462337|462803|462807|462914|462919|482272|503771|503790|503799|504060|504334|504349|504791|504818|510360|510363|511109|527033|527035|527037|527038|527040|527042|527047|527048|527051|527055|527257|527258|527264|527269|527271|527279|527281|527286|527558|536836|538429|565384|565386|566748|567949|567951|567954|571740|571745|571751|621375|641019|641020|641021|641022|641023|641024|641025|641026|641027|641028|641029|641030|652233|652235|652316|652472|652479|652696|684317|687955|687958|693175|693176|695557|713479|738595|744844|769047|778082|784360|784363|787771|788058|796733|820485|820486|820487|839777|839778|839779|839780|839781|839782|839783|839784|839785|839786|839787|839788|839789|839790|839791|839792|839793|839794|839795|839796|839797|839798|839799|839800|839801|839802|839803|839804|839805|839806|839807|839808|839809|851939|851941|852685|869669|869670|869671|869672|869673|869674|869675|872228|926588|926589|926590|926591|926592|926593|936074|936075|936076|936077|940261|940262|947959|947960|947961|947962|947963|947964|947965|947966|947967|947968|947969|947970|947971|947972|956844|956845|956846|956847|956848|960037|960038", + "text": "Dilated cardiomyopathy 1O" + }, + { + "baseId": "23202|23203|23204|23205|23206|23207|49933|98909|98910|98911|98913|98915|177098|177902|297614|297615|297617|297622|297639|297640|297642|297643|297644|299814|299815|299816|299822|299829|299831|299833|299844|303939|303940|303946|303955|303962|303966|303977|303979|304348|304352|304353|304361|304365|304372|304373|353704|560347|619845|651322|651352|709926|709927|721466|735119|749516|775026|779318|788779|790562|816455|830866|830867|851988|894370|894371|894372|894373|894374|894375|894376|894377|894378|894379|894380|894381|894382|894383|894384|894385|894386|896111|932919|932920|944631|944632|961771|961846", + "text": "Succinyl-CoA acetoacetate transferase deficiency" + }, + { + "baseId": "23208|23209|215519|433648|512866", + "text": "Charcot-Marie-Tooth disease, recessive intermediate B" + }, + { + "baseId": "23210|23211|23211|23212|23213|23215|23216|45432|45433|52526|52526|52528|57279|57280|57281|57283|57284|57285|57285|57286|57287|142802|171101|174272|174274|174277|174278|174279|174279|174280|174411|174412|174413|174414|174415|174417|174417|189785|189787|193416|193417|193417|198172|198174|198175|198177|198178|229299|269009|269538|269702|270421|271690|272645|273483|302804|394836|394838|394838|395095|395434|395435|443734|454782|454829|454841|454842|455331|455635|455642|455645|520950|520955|521391|521394|521445|521448|521449|543365|543368|543370|543379|543397|543626|543653|543668|543670|543670|543672|543673|543731|543736|543737|543741|543815|543826|543827|543843|543845|559835|560231|560233|560235|560237|560346|560348|563005|564977|585031|588537|633666|633667|633668|633669|633670|633671|633672|651316|672402|683727|686712|819568|819640|830561|830562|830563|830564|923960|923961|923962|940811|944505|954099", + "text": "Autosomal recessive limb-girdle muscular dystrophy type 2F" + }, + { + "baseId": "23211|23214|23215|52526|57283|57285|57287|174272|174274|174277|174278|174279|174280|174411|174412|174413|174414|174415|174417|189785|189787|193417|229299|271690|394838|521445|543365|543368|543370|543379|543397|543626|543653|543668|543670|543672|543673|543731|543736|543737|543741|543815|543826|543827|543843|543845", + "text": "Dilated cardiomyopathy 1L" + }, + { + "baseId": "23215", + "text": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC" + }, + { + "baseId": "23217|23218|23219|28799", + "text": "Pancreatitis, chronic, susceptibility to" + }, + { + "baseId": "23222|39133|101330|101331|136138|304661|444257|486702|538399|550854|579538|651813|834521|851193|934228|955376|962048", + "text": "Mental retardation, autosomal recessive 7" + }, + { + "baseId": "23223|980452", + "text": "West nile virus, susceptibility to" + }, + { + "baseId": "23223", + "text": "Resistance to hepatitis C virus" + }, + { + "baseId": "23223|24290", + "text": "Multiple sclerosis modifier of disease progression" + }, + { + "baseId": "23224", + "text": "CCR5 POLYMORPHISM, ORIENTAL 1" + }, + { + "baseId": "23225", + "text": "CCR5 POLYMORPHISM, ORIENTAL 2" + }, + { + "baseId": "23226", + "text": "CCR5 POLYMORPHISM, AFRICAN-AMERICAN" + }, + { + "baseId": "23228", + "text": "Acquired immunodeficiency syndrome, delayed progression to" + }, + { + "baseId": "23228", + "text": "CCR5 PROMOTER POLYMORPHISM" + }, + { + "baseId": "23229", + "text": "Human immunodeficiency virus type 1, increased perinatal transmission of" + }, + { + "baseId": "23232|23233|101257|101259|132607|190500|194437|214379|215262|237303|265737|287287|287288|290651|290915|290920|290922|290934|366794|366797|367943|451462|451464|451699|451703|451823|451906|451910|451914|451922|451926|500353|500355|518634|518636|518638|518640|518722|518820|518821|518823|518831|558301|558680|558682|558684|559186|559187|562070|562075|562078|562087|614252|630566|630567|630568|630569|630570|630571|630572|630573|630574|630575|630576|630577|630578|630579|630580|630581|630582|630583|630584|630585|630586|630587|630588|630589|630590|630591|630592|630593|747785|763441|798513|798514|819276|827053|827054|827055|827056|827057|827058|827059|827060|827061|827062|827063|827064|827065|827066|827067|827068|827069|827070|827071|827072|827073|922932|922933|922934|922935|931598|931599|931600|931601|931602|931603|931604|931605|939915|943135|943136|943137|953236|953237|953238|953239|953240|953241|953242|953243|953244|953245|963129", + "text": "Congenital disorder of glycosylation type 2B" + }, + { + "baseId": 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+ "text": "Polycystic kidney disease, adult type" + }, + { + "baseId": "23245|247541|553486|611980|612161|612179|799086|965650", + "text": "Polycystic kidney disease 3" + }, + { + "baseId": 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+ "text": "Holoprosencephaly 7" + }, + { + "baseId": 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+ "text": "Holoprosencephaly sequence" + }, + { + "baseId": 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+ "text": "Generalized juvenile polyposis/juvenile polyposis coli" + }, + { + "baseId": "23276|50219|133359|150736|152313|182985|360921", + "text": "Hereditary mixed polyposis syndrome 2" + }, + { + "baseId": "23277", + "text": "Juvenile polyposis of infancy" + }, + { + "baseId": 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+ "text": "Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency" + }, + { + "baseId": "23281|491667|493298", + "text": "Bile acid malabsorption, primary" + }, + { + "baseId": 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+ "text": "Telangiectasia, hereditary hemorrhagic, type 2" + }, + { + "baseId": "23282|23288|23289|23290|23291|23292|23293|23294|210238|360048|399783|414375|414376|414377|414378|414379|414380|414381|414382|414385|414386|414387|414388|414394|414395|414397|414398|414400|414401|414402|414403|414404|414409|414410|414411|414433", + "text": "Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia" + }, + { + "baseId": 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+ "text": "Pulmonary arterial hypertension" + }, + { + "baseId": 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+ "text": "Epidermolysis bullosa simplex with muscular dystrophy" + }, + { + "baseId": 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+ "text": "Epidermolysis bullosa simplex, Ogna type" + }, + { + "baseId": 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+ "text": "Epidermolysis bullosa simplex with pyloric atresia" + }, + { + "baseId": "23307|23308|23309|101778|101779|101780|240839|253804|253805|253806|310609|315791|315795|315796|315827|315828|315829|315831|315841|315843|315844|315845|321858|321859|321864|321867|321868|321872|321873|321874|322523|322549|322551|322555|322565|322566|322578|322581|397795|460101|536045|536046|536047|563898|564709|569410|639101|639102|684194|684195|687666|687668|692886|837161|837162|837163|837164|866072|866073|866074|866075|866076|866077|866078|866079|866080|866081|866082|866083|866084|925901|974490", + "text": "Visceral heterotaxy 5, autosomal" + }, + { + "baseId": "23308|407891", + "text": "heterotaxia syndrome" + }, + { + "baseId": "23311|23312|23313|23314|39126|49240|49259|49263|49278|49286|49294|49297|49305|55402|264952|265075|269358|363055|424697|919868", + "text": "Cardiofaciocutaneous syndrome 4" + }, + { + "baseId": "23311|23312|23313|23314|27625|27625|27626|27628|27629|28389|28390|28391|29000|29003|29003|29004|29004|29008|29012|29013|29014|29014|29016|29017|29018|29019|38762|48816|48817|48818|48821|48835|48836|48839|48840|48844|48850|48853|48854|48857|48857|48859|48860|49214|49217|49249|49251|49251|49283|49283|49884|53753|53754|53755|53972|53973|53974|53977|53978|53985|53987|53988|53997|53998|99984|174042|174043|174043|174175|174176|174178|175711|175716|175855|176031|176031|179450|224864|224865|224866|230308|301998|302001|309875|310013|316688|316706|316713|316714|316716|323126|323128|324168|324186|330211|330214|330268|331617|331620|331623|331632|331661|332754|332756|359643|362823|362825|363055|653970|653971|653972|653977|653983|653984|799020|969624", + "text": "Cardio-facio-cutaneous syndrome" + }, + { + "baseId": "23315|23316|23317|23318|23318|23319|23320|23321|23322|23323|23324|23325|23329|40376|40390|272349|918860|961601", + "text": "Rippling muscle disease 2" + }, + { + "baseId": "23317|40366|40367|40369|40374|40376|40377|40378|40380|40399|44468|101340|135129|135130|177852|179082|195708|195709|229569|252658|265307|267980|270697|272684|273196|291730|291733|293055|293056|293071|293074|293079|295480|295481|295485|295486|295488|296327|296330|296331|296333|296349|296387|296388|296389|296390|297261|297264|297267|297276|301110|301111|301112|301113|301114|301267|301277|302296|302299|302312|302320|305526|305535|305543|305551|305553|305555|310342|310348|310446|310468|310470|310481", + "text": "Limb-Girdle Muscular Dystrophy, Dominant" + }, + { + "baseId": "23317|23318|23327|23332|40366|40367|40369|40371|40374|40376|40377|40378|40380|40399|44468|55699|55701|102134|140362|179082|179092|291730|291733|293055|293056|293071|293074|293079|296327|296330|296331|296333|296349|296387|296388|296389|296390|367735|889740|889741|889742|889743|889744|889745|889746|889747|889748|889749|889750|889751|889752|889753", + "text": "Caveolinopathy" + }, + { + "baseId": "23318|23322|23328|40376|272349|961601", + "text": "Distal myopathy, Tateyama type" + }, + { + "baseId": "23318|23330|23332|23333|23334|23335|272349|625794|857645|961601", + "text": "Long QT syndrome 9" + }, + { + "baseId": "23324", + "text": "Rippling muscle disease 2, autosomal recessive" + }, + { + "baseId": "23331", + "text": "Long QT syndrome 9, acquired, susceptibility to" + }, + { + "baseId": "23332|29482", + "text": "Long QT syndrome 2/9, digenic" + }, + { + "baseId": "23336|23337|23338|23339|167854|167855|167856|167857|167858|167860|167861|167862|167863|167864|167865|167866|167867|167868|167869|167870|167871|167872|191039|191444|206839|250143|250147|250149|250150|250152|268256|270551|270786|272294|272612|275116|281761|281768|281777|281779|281781|281782|281784|281789|282397|282398|282400|282403|282407|282410|282411|283952|283964|283965|283967|283977|283988|283989|284009|284017|284028|284030|284039|284183|284197|284199|284200|284201|284206|284207|284217|284220|353537|365344|365351|365352|365505|365509|365531|405289|405290|448561|448638|448644|448651|448653|448669|448671|448675|448677|448678|448683|448689|448691|448766|448768|498617|498644|516300|516308|516310|516312|516318|516321|516322|516325|516334|516363|516369|516371|516402|516403|516405|557494|557496|557498|557500|557502|557543|557545|557547|558629|558709|559196|559198|609084|609085|628424|628425|628426|628427|628428|628429|628430|628431|628432|650706|650861|690732|690736|690737|695071|697003|697004|707707|762168|762170|787187|819046|824725|824726|824727|824728|824729|824730|824731|824732|824733|824734|851331|880993|880994|880995|880996|880997|880998|880999|881000|881001|881002|881003|881004|881005|881006|881007|881008|882792|882793|882794|922231|922232|922233|930791|930792|930793|939843|942219|942220|942221|942222|942223|942224|942225|942226|952625|952626|952627|952628|952629", + "text": "Autosomal recessive centronuclear myopathy" + }, + { + "baseId": "23340|23341|23342|23343|23344|33917|33918|33919|33920|134576|141136|141137|141138|141139|141140|142197|177428|192184|200993|203522|203525|203526|203529|203532|203533|203537|203540|203544|203548|203555|203558|227402|243311|273200|332705|342879|342881|342883|348219|348220|348222|348225|348226|349425|349427|349428|349431|379492|426291|439202|446066|470496|488043|506577|532739|532752|532755|533179|572273|614454|647775|647777|653605|683148|688968|798921|806381|851799|880005|880006|880007|880008|880009|880010|880011|880012|971120|979972", + "text": "Deficiency of guanidinoacetate methyltransferase" + }, + { + "baseId": "23341|23342|33917|141136|141137|141138|141139|177428|192184|203522|203523|203525|203526|203527|203528|203529|203530|203531|203532|203533|203537|203540|203543|203544|203546|203548|203555|203558|227402|243311|271551|273200|332705|342881|348220|348225|349431|377332|377532|377539|379492|403199|426289|426291|446063|446066|468531|469470|470496|470500|470507|470508|506560|507634|532739|532741|532745|532749|532750|532752|532755|532762|532812|532818|532821|532823|533179|570566|570570|570573|572273|572279|572281|572283|572965|574895|574896|574898|574900|580386|580509|647775|647776|647777|647778|647779|647780|647781|647782|647783|653016|653019|653491|653605|684781|688966|688968|694336|741614|776561|786085|821300|847388|847389|847390|847391|847392|847393|847394|847395|847396|847397|847398|847399|851799|852854|852856|852964|852965|928888|928889|938602|938603|938604|938605|940473|950700|958557|958558|958559|958560|958561|958562|958563|960286", + "text": "Cerebral creatine deficiency syndrome" + }, + { + "baseId": "23345|44691|44692|44693|55575|55576|55577|55578|55579|55582|55583|55588|55589|55590|55591|55592|55593|55594|55595|55596|55597|176682|178732|189996|189999|190000|190004|198510|198512|198513|198515|224544|243060|258757|346985|361035|378985|402449|402739|402743|403273|403275|403278|403287|403302|415602|415603|463041|467983|469326|469753|469754|469758|469759|497295|508905|513598|515690|531246|532277|532379|563886|570152|570153|571926|571931|572634|612055|647207|647208|647209|647210|647211|647212|647213|684756|772126|776599|800088|846828|846829|928699|928700|938426|938427|938428|940455|940456|941209|950514|958461|966428|966451", + "text": "Left ventricular noncompaction 1" + }, + { + "baseId": "23346|34518|39740|50340|99571|99572|140173|140174|166307|166308|167809|167810|167811|167812|167813|167815|167816|167817|167818|167819|167820|167821|167822|167824|167827|167827|167828|167830|167831|167832|167834|167836|167839|167841|167842|167843|167846|167847|167848|167849|167850|167851|167852|167853|207056|207057|207058|237440|289010|289012|289013|289030|289032|289036|289038|289042|289043|289749|289751|289752|289768|289771|289772|289773|289780|292779|292782|292803|292805|292807|292831|292833|292836|292847|292851|292852|292855|292864|293037|293039|293041|293043|293044|293070|293073|293077|293093|293095|293102|368244|413648|428149|428150|428151|428152|500600|500601|550265|550266|620111|620754|683551|683560|781576|790341|790342|794342|888084|888085|888086|888087|888088|888089|888090|888091|888092|888093|888094|888095|888096|888097|888098|888099|888100|888101|888102|888103|888104|888105|888106|888107|888108|888109|888110|888111|888112|891582|891583|891584|891585|918802|918803|918804|965959|977196", + "text": "Seckel syndrome 1" + }, + { + "baseId": "23347|23347|23348|23349|23350|187103|230534|230534|320763|320764|320765|320773|320777|320778|320779|320784|329651|329653|329656|329657|336219|336226|336236|336241|338134|338136|338141|338160|338163|338171|338172|338173|338177|338177|404817|437971|463856|464211|488884|622113|871983|871984|871985|871986|871987|871988|871989|871990|871991|871992|871993|871994|871995|871996|962987|970996", + "text": "Branchiootic syndrome 3" + }, + { + "baseId": "23347|23347|23349|204589|230534|230534|320763|320764|320765|320773|320777|320778|320779|320784|329651|329653|329656|329657|336219|336226|336236|336241|338134|338136|338141|338160|338163|338171|338172|338173|338177|338177|404817|437971|463856|464211|488884|622113|677283|871983|871984|871985|871986|871987|871988|871989|871990|871991|871992|871993|871994|871995|871996", + "text": "Deafness, autosomal dominant 23" + }, + { + "baseId": "23351|23352|23352|23353|23355|23369|23370|23371|23371|23372|23373|23374|23379|23380|23381|23388|23391|23392|23394|23395|23396|44440|44454|44461|44464|75243|190256|193423|195231|195232|198615|239058|239060|239063|239064|239066|239067|239068|239071|239076|250863|264143|269518|288297|288298|288300|288305|288307|288311|288319|288320|289063|289064|289066|289101|289102|292030|292031|292035|292036|292042|292046|292048|292049|292050|292139|292147|292154|292170|292172|292175|292176|292177|366891|384477|393203|393205|393209|393210|393213|393217|393221|393250|393273|393278|393281|393383|393389|393413|393592|393639|393641|406099|418975|424993|425518|451684|451693|451706|451714|451732|451746|451957|451968|451987|451997|451999|452003|452007|452019|452021|452034|452045|452049|452053|452059|452065|452069|452176|452181|452186|452189|452198|452214|452220|452222|518737|518748|518761|518765|518770|518771|518778|518782|518789|518815|518824|518828|518829|518838|518937|518943|518947|518961|518967|518984|518985|518994|518995|518998|519001|519008|519009|519010|519015|519028|519032|519035|558750|558752|558754|558758|558760|558768|558770|558772|559281|559287|559291|559295|559299|559303|559309|561110|561117|561119|561133|561135|562263|562269|562280|562289|562302|562328|562340|562342|562348|562353|562356|630758|630819|672027|747922|789725|790319|818221|827396|887729|887730|887731|887732|887733|887734", + "text": "Hypocalciuric hypercalcemia, familial, type 1" + }, + { + "baseId": 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+ "text": "Familial hypocalciuric hypercalcemia" + }, + { + "baseId": 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04|931705|931706|931707|931708|931709|931710|931711|931712|931713|931714|931715|931716|931717|931718|931719|931720|931721|931722|931723|939927|939928|940735|943268|943269|943270|943271|943272|943273|943274|943275|943276|943277|943278|943279|943280|943281|943282|943283|943284|943285|943286|943287|943288|953304|953305|953306|953307|953308|953309|953310|953311|953312|953313|953314|959676|964212|965934|966153|980318", + "text": "Hypocalcemia, autosomal dominant 1" + }, + { + "baseId": "23352|23353|23355|23356|23357|23358|23368|23380|23384|23388|23390|44440|44451|190256|193423|195231|195232|239060|239061|239063|239064|239066|239067|239068|239071|250863|269518|288297|288298|288300|288305|288307|288311|288319|288320|289063|289064|289066|289101|289102|292030|292031|292035|292036|292042|292046|292048|292049|292050|292139|292147|292154|292170|292172|292174|292175|292176|292177|353611|393209|393641|425518|452021|519009|519035|621905|630758|747922|827396|887729|887730|887731|887732|887733|887734", + "text": "Neonatal severe hyperparathyroidism" + }, + { + "baseId": "23382|23383|23385|75244", + "text": "Hypocalcemia, autosomal dominant 1, with bartter syndrome" + }, + { + "baseId": "23388", + "text": "Serum calcium level" + }, + { + "baseId": "23388|28796|44440|44449|44458|190256|193423|195231|195232|239060|239061|239063|239064|239066|239067|239068|239071|250863|254060|254061|269518|288297|288298|288300|288305|288307|288311|288319|288320|289063|289064|289066|289101|289102|292030|292031|292035|292036|292042|292046|292048|292049|292050|292139|292147|292154|292170|292172|292174|292175|292176|292177|298696|298697|298698|298705|298706|298713|298715|298719|298720|298723|301135|301146|301148|301159|301160|301164|301172|301181|301198|305548|305552|305554|305556|305663|305666|305667|305673|305674|305678|305685|313368|313370|325603|325604|325608|326630|326641|353611|353741|393209|393641|425518|426716|519009|519035|630758|721633|721634|721635|735325|735326|747922|827396|867597|867598|867599|867600|887729|887730|887731|887732|887733|887734|895179|895180|895181|895182|895183|895184|895185|895186|895187|895188|895189|895190|895191|895192|896175|896176", + "text": "Familial isolated hypoparathyroidism" + }, + { + "baseId": "23398|452021", + "text": "Epilepsy, idiopathic generalized 8" + }, + { + "baseId": "23399", + "text": "Leprosy, protection against" + }, + { + "baseId": "23400", + "text": "Leprosy 5" + }, + { + "baseId": "23401|45838|316422|316423|316425|316427|316433|316435|323909|323924|329953|329961|331327|869558|869559|869560|869561", + "text": "Retinal cone dystrophy 3A" + }, + { + "baseId": 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+ "text": "Encephalopathy, acute, infection-induced, 3, suceptibility to" + }, + { + "baseId": "23408|23409|48508|247078|408628|576151|576152|613396|626314|791225|791226|791227|903590|980345|980346", + "text": "Warsaw breakage syndrome" + }, + { + "baseId": "23410|23410|23411|23412|23412|23413|47804|253214|253214|253218|253218|270642|306085|306088|306098|306101|306102|306104|306111|306112|306118|306119|306119|310130|310138|310146|310149|310151|310157|310158|310158|310160|310160|310171|310176|310176|315453|315463|315466|315467|315488|315502|315503|315504|315638|315639|315644|315645|315656|315660|315664|315665|315666|315668|458107|692527|692527|692528|692528|700686|835158|835159|835160|835161|835162|835163|835164|835165|835166|900578|900579|900580|900581|900582|900583|900584|900585|900586|900587|900588|900589|900590|900591|900592|900593|900594|900595|900596|900597|900598|900599|900600|900601|900602|900603|900604|900605|900606|900607|900608|900609|900610|900611|900611|900612|900613|903278|934450|934451|946230|946231|946232|946233|946234|946235|955528|955529|955530", + "text": "Klippel-Feil syndrome 1, autosomal dominant" + }, + { + "baseId": "23410|23414|23415|253214|253218|270642|306119|310158|310160|310176|458107|692527|692528|700686|835158|835159|835160|835161|835162|835163|835164|835165|835166|900611|934450|934451|946230|946231|946232|946233|946234|946235|955528|955529|955530", + "text": "Microphthalmia, isolated 4" + }, + { + "baseId": "23410|39115|75114|75115|253214|253218|270642|306119|310158|310160|310176|458107|692527|692528|700686|835158|835159|835160|835161|835162|835163|835164|835165|835166|900611|934450|934451|946230|946231|946232|946233|946234|946235|955528|955529|955530", + "text": "Leber congenital amaurosis 17" + }, + { + "baseId": "23410|23412|306108|310135|310152|310156|315489|315496|315648|315649|315657|353847|578582|622481", + "text": "Klippel Feil syndrome" + }, + { + "baseId": "23416|23429|190284|257355|257356|257358|268853|335334|335335|335336|345188|345191|345196|345197|349911|349916|349919|349924|349929|350933|350934|350935|350936|350937|350938|586217|805112|886045|886046|886047|886048|886049|886050|886051|886052|886053|886054|886055|886056|886057|887456", + "text": "Acromesomelic dysplasia, Hunter-Thompson type" + }, + { + "baseId": "23417|23421|23423|23424|23430|260804", + "text": "Brachydactyly type C" + }, + { + "baseId": "23418|23419|23429|190284|257355|257356|257358|268853|335334|335335|335336|345188|345191|345196|345197|349911|349916|349919|349924|349929|350933|350934|350935|350936|350937|350938|586217|612333|816493|886045|886046|886047|886048|886049|886050|886051|886052|886053|886054|886055|886056|886057|887456", + "text": "Grebe syndrome" + }, + { + "baseId": "23420|23426|23429|23432|23433|190284|257355|257356|257358|268853|335334|335335|335336|345188|345191|345196|345197|349911|349916|349919|349924|349927|349929|350933|350934|350935|350936|350937|350938|424259|439689|586217|886045|886046|886047|886048|886049|886050|886051|886052|886053|886054|886055|886056|886057|887456", + "text": "Fibular hypoplasia and complex brachydactyly" + }, + { + "baseId": "23425|23428|23431", + "text": "Symphalangism, proximal, 1B" + }, + { + "baseId": "23425|23427|23429|190284|257355|257356|257358|268853|335334|335335|335336|345188|345191|345196|345197|349911|349916|349919|349924|349929|350933|350934|350935|350936|350937|350938|586217|886045|886046|886047|886048|886049|886050|886051|886052|886053|886054|886055|886056|886057|887456", + "text": "Multiple synostoses syndrome 2" + }, + { + "baseId": "23429", + "text": "Osteoarthritis of hip" + }, + { + "baseId": "23429|39217|190284|215305|257355|257356|257358|264298|268853|272112|284777|294668|294669|294673|294674|294679|294682|294683|294691|294695|294696|294702|294703|294708|294710|294714|294730|294732|294733|294735|296213|296214|296223|296224|296231|296234|296235|296236|296245|296260|296262|296265|296266|296267|296273|296274|296278|296290|296291|299980|299981|299982|299987|300002|300003|300004|300006|300008|300011|300012|300020|300021|300022|300023|300024|300025|300026|300027|300028|300030|300035|300037|300039|300040|300043|300045|300046|300047|300049|300052|300055|300074|300075|300092|313508|319315|335334|335335|335336|345188|345191|345196|345197|349911|349916|349919|349924|349927|349929|350933|350934|350935|350936|350937|350938|353559|359571|360870|360897|520289|550229|586217|625969|691640|886045|886046|886047|886048|886049|886050|886051|886052|886053|886054|886055|886056|886057|887456|892537|892538|892539|892540|892541|892542|892543|892544|892545|892546|892547|892548|892549|892550|892551|892552|892553|892554|892555|892556|892557|892558|892559|892560|892561|892562|892563|892564|892565|892566|892567|892568|892569|892570|892571|892572|892573|892574|892575|892576|892577|892578|892579|896008|896009", + "text": "Brachydactyly" + }, + { + "baseId": "23434|23435|23436|23437|23438|23439|70595|70596|70597|70598|70599|70600|134306|140740|171260|171261|171262|171263|192177|203827|336905|336910|346610|346615|350776|350777|350782|350783|350786|351823|351826|351829|377303|425232|507584|573834|886890|886891|886892|886893|886894|886895|886896", + "text": "Unverricht-Lundborg syndrome" + }, + { + "baseId": "23434", + "text": "Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)" + }, + { + "baseId": "23434|263323|409653|801158|801161|921260", + "text": "Dyskinesia" + }, + { + "baseId": "23434|169841|214799|214800|214801|214802|384443|409653|535682|590047|590048|590085|801161|904239|904355", + "text": "Chorea" + }, + { + "baseId": "23434", + "text": "Cerebral dysmyelination" + }, + { + "baseId": "23434|217214|217215|217216|263352|263361|480624|481174|481175|623724|965446|971487", + "text": "Encephalopathy" + }, + { + "baseId": "23435|75270|79480|79508|94304|99578|101111|134635|135473|135564|135573|135707|140512|168758|178089|191900|192525|192753|194022|195130|196078|201357|201786|201798|201883|202050|202080|202085|202093|202151|202160|207655|243706|243712|259332|259344|259367|259368|259370|265480|265506|313525|313526|363657|375648|380289|401964|402113|404385|408656|413413|426647|426648|426649|426650|426651|426652|426653|426654|426655|426656|426657|426658|426659|426660|426661|426662|426663|426664|426665|426666|426667|426668|426669|426670|426671|426672|426673|426674|426675|426676|426677|426678|426679|426680|426681|426682|426683|426684|426685|426686|426687|426688|426689|426690|426691|426692|426693|426694|426695|426696|426697|426698|426699|426700|426701|426702|426703|426704|426705|426706|551739", + "text": "Rolandic epilepsy" + }, + { + "baseId": "23440|23440|23441|23441|23443|23443|23444|192115|193289|250804|250805|250805|250807|250807|250808|250808|250809|250809|250810|250810|250811|250811|250813|259259|266844|269227|269227|273688|273688|287260|287261|287266|287266|287267|287270|287277|287278|287278|287281|287282|287953|287954|287955|287956|287971|287985|287985|287988|287988|288004|288004|288005|288005|288008|288008|288009|288010|290566|290566|290567|290567|290599|290599|290601|290609|290609|290613|290614|290614|290630|290649|290649|290854|290854|290855|290863|290863|290865|290865|290868|290887|290888|290889|290892|290892|290909|366791|366791|367942|406038|413540|440732|440733|440734|440735|440736|443314|443314|451441|451443|451446|451449|451452|451459|451461|451669|451672|451674|451674|451681|451681|451695|451804|451804|451808|451810|451812|451818|451820|451822|451879|451880|451884|451886|451888|451888|451898|451902|486244|518600|518601|518602|518602|518603|518604|518607|518609|518611|518614|518617|518620|518624|518625|518626|518627|518629|518631|518632|518633|518639|518669|518672|518678|518684|518691|518719|518720|518720|518775|518775|518777|518779|518786|518801|518803|518809|518811|518816|558287|558289|558291|558293|558295|558297|558299|558662|558664|558666|558668|558670|558672|558674|558676|558678|560968|560970|560972|560972|560977|562030|562039|562041|562042|562043|562055|562060|562063|562064|562065|576700|576701|576702|576702|630524|630525|630526|630527|630528|630528|630529|630530|630531|630532|630533|630534|630535|630536|630537|630538|630539|630540|630541|630542|630543|630544|630545|630546|630547|630548|630549|630550|630551|630552|630553|630554|630555|630556|630557|630558|630559|630560|630561|630562|630563|630564|630565|650953|651009|651012|651092|651093|691215|691217|691219|691219|691220|691221|691223|691223|695160|695161|695162|695163|695165|697663|697665|697666|697666|697668|719971|733575|733575|747776|747778|747781|747782|763436|774786|781470|781473|787338|795285|827029|827030|827031|827032|827033|827034|827035|827036|827037|827038|827039|827040|827041|827042|827043|827044|827045|827046|827047|827048|827049|827050|827051|827052|850887|851212|859197|861339|885461|885462|885463|885464|885465|885466|885467|885468|885469|885470|885471|885471|885472|885473|887399|887400|905847|922921|922922|922923|922924|922925|922926|922927|922928|922929|922930|922931|931586|931587|931588|931589|931590|931591|931592|931593|931594|931595|931596|931597|939914|940724|943127|943128|943129|943130|943131|943132|943133|943134|953228|953229|953230|953231|953232|953233|953234|953235", + "text": "Distal hereditary motor neuronopathy type 7B" + }, + { + "baseId": "23440|23441|23441|23443|23443|23444|29791|29792|29793|29794|29795|29796|29797|29798|29799|29800|29801|29802|29803|29804|29805|29807|29808|29809|29810|29811|29812|29813|29814|29815|29816|29817|29818|29819|29820|29821|29823|29824|29825|77626|77630|77635|77637|77638|77640|192115|193289|194306|250804|250805|250807|250808|250809|250810|250811|257449|259259|266844|269227|273688|287266|287278|287985|287988|288004|288005|288008|290566|290567|290599|290609|290614|290649|290854|290863|290865|290892|336570|336571|346279|346282|350534|350535|350537|351578|351579|351580|351583|366791|367942|406038|413540|433935|440732|440733|440734|440735|440736|443314|451441|451443|451446|451449|451452|451459|451461|451669|451672|451674|451681|451695|451804|451808|451810|451812|451818|451820|451822|451879|451880|451884|451886|451888|451898|451902|471562|486244|507475|512884|512965|512966|512967|518600|518601|518602|518603|518604|518607|518609|518611|518614|518617|518620|518624|518625|518626|518627|518629|518631|518632|518633|518639|518669|518672|518678|518684|518691|518719|518720|518775|518777|518779|518786|518801|518803|518809|518811|518816|533771|534335|540470|558287|558289|558291|558293|558295|558297|558299|558662|558664|558666|558668|558670|558672|558674|558676|558678|560968|560970|560972|560977|562030|562039|562041|562042|562043|562055|562060|562063|562064|562065|571472|573020|573721|575146|576700|576701|576702|577887|630524|630525|630526|630527|630528|630529|630530|630531|630532|630533|630534|630535|630536|630537|630538|630539|630540|630541|630542|630543|630544|630545|630546|630547|630548|630549|630550|630551|630552|630553|630554|630555|630556|630557|630558|630559|630560|630561|630562|630563|630564|630565|648885|648886|648887|650953|651009|651012|651092|651093|679942|691215|691217|691219|691220|691221|691223|694620|695160|695161|695162|695163|695165|695856|697663|697665|697666|697668|719971|728852|733575|747776|747778|747781|747782|763436|774786|781470|781473|787338|790296|795285|798017|798767|827029|827030|827031|827032|827033|827034|827035|827036|827037|827038|827039|827040|827041|827042|827043|827044|827045|827046|827047|827048|827049|827050|827051|827052|848662|848663|848664|850887|851212|859197|861339|861427|861428|861429|861430|861431|861432|861433|861434|861435|861436|861437|861438|885471|886669|886670|886671|886672|886673|886674|886675|886676|886677|886678|918783|922921|922922|922923|922924|922925|922926|922927|922928|922929|922930|922931|929280|931586|931587|931588|931589|931590|931591|931592|931593|931594|931595|931596|931597|939068|939914|940724|943127|943128|943129|943130|943131|943132|943133|943134|953228|953229|953230|953231|953232|953233|953234|953235|961894|964552|977296", + "text": "Amyotrophic lateral sclerosis type 1" + }, + { + "baseId": "23440|23441|23441|23443|23443|23444|23445|23446|34242|34243|34244|192115|193289|250804|250805|250805|250807|250807|250808|250808|250809|250809|250810|250810|250811|250811|250813|259257|259258|259259|259259|259260|266844|269227|269227|273688|273688|287260|287261|287266|287266|287267|287270|287277|287278|287278|287281|287282|287953|287954|287955|287956|287971|287985|287985|287988|287988|288004|288004|288005|288005|288008|288008|288009|288010|290566|290566|290567|290567|290599|290599|290601|290609|290609|290613|290614|290614|290630|290633|290649|290649|290854|290854|290855|290863|290863|290865|290865|290868|290887|290888|290889|290892|290892|290908|290909|366791|366791|367942|406038|413540|440732|440733|440734|440735|440736|443314|443314|451441|451443|451446|451449|451452|451459|451461|451669|451672|451674|451674|451681|451681|451695|451804|451804|451808|451810|451812|451818|451820|451822|451879|451880|451884|451886|451888|451888|451898|451902|486244|518600|518601|518602|518602|518603|518604|518607|518609|518611|518614|518617|518620|518624|518625|518626|518627|518629|518631|518632|518633|518639|518669|518672|518678|518684|518691|518719|518720|518720|518775|518775|518777|518779|518786|518801|518803|518809|518811|518816|558287|558289|558291|558293|558295|558297|558299|558662|558664|558666|558668|558670|558672|558674|558676|558678|560968|560970|560972|560972|560977|562030|562039|562041|562042|562043|562055|562060|562063|562064|562065|576700|576701|576702|576702|630524|630525|630526|630527|630528|630528|630529|630530|630531|630532|630533|630534|630535|630536|630537|630538|630539|630540|630541|630542|630543|630544|630545|630546|630547|630548|630549|630550|630551|630552|630553|630554|630555|630556|630557|630558|630559|630560|630561|630562|630563|630564|630565|650953|651009|651012|651092|651093|691215|691217|691219|691219|691220|691221|691223|691223|695160|695161|695162|695163|695165|697663|697665|697666|697666|697668|719971|733575|733575|747776|747778|747781|747782|763436|774786|781470|781473|787338|795285|827029|827030|827031|827032|827033|827034|827035|827036|827037|827038|827039|827040|827041|827042|827043|827044|827045|827046|827047|827048|827049|827050|827051|827052|850887|851212|859197|861339|885461|885462|885463|885464|885465|885466|885467|885468|885469|885470|885471|885471|885472|885473|887399|887400|922921|922922|922923|922924|922925|922926|922927|922928|922929|922930|922931|931586|931587|931588|931589|931590|931591|931592|931593|931594|931595|931596|931597|939914|940724|943127|943128|943129|943130|943131|943132|943133|943134|953228|953229|953230|953231|953232|953233|953234|953235|964207", + "text": "Perry syndrome" + }, + { + "baseId": "23441|23442|23443|23444|28745|28746|29074", + "text": "Amyotrophic lateral sclerosis, susceptibility to" + }, + { + "baseId": "23447", + "text": "Tolbutamide response" + }, + { + "baseId": "23447|23448", + "text": "Phenytoin response" + }, + { + "baseId": "23447", + "text": "Glipizide response" + }, + { + "baseId": "23447", + "text": "diclofenac response - Toxicity/ADR" + }, + { + "baseId": "23447", + "text": "celecoxib response - Dosage" + }, + { + "baseId": "23447", + "text": "Antiinflammatory agents, non-steroids response - Toxicity/ADR" + }, + { + "baseId": "23447", + "text": "celecoxib response - Toxicity/ADR" + }, + { + "baseId": "23447", + "text": "acenocoumarol response - Dosage, Toxicity/ADR" + }, + { + "baseId": "23447|227781", + "text": "acenocoumarol response - Toxicity/ADR" + }, + { + "baseId": "23447|227781", + "text": "warfarin response - Toxicity/ADR" + }, + { + "baseId": "23447|23448|227771|227774|269838|354244", + "text": "Flurbiprofen response" + }, + { + "baseId": "23447|23448|227771|227774|269838|354244", + "text": "Lesinurad response" + }, + { + "baseId": "23447|23448|227771|227774|269838|354244", + "text": "Piroxicam response" + }, + { + "baseId": "23448", + "text": "warfarin response - Efficacy, Toxicity/ADR" + }, + { + "baseId": "23450", + "text": "DRUG METABOLISM, ALTERED, CYP2C8-RELATED" + }, + { + "baseId": "23451|23453|23454|23455|23456|23457|23458|40287|48399|188820|190974|192890|193012|193262|193890|193891|195580|205166|215780|253969|253970|266564|266565|266566|266567|266568|267199|268053|270664|271583|271732|272331|273786|274222|274319|275099|311990|311992|311993|311997|311999|312003|312005|312010|312012|312013|312014|312018|312020|312021|317653|317656|317657|317662|317663|317664|317666|317671|317672|317673|317681|323615|323617|323626|323627|323628|323631|323635|323638|323639|324330|324331|324332|324337|324340|324341|324343|324350|324359|324360|324361|324366|324367|324373|488508|489466|490036|490813|491586|492189|492380|493488|583351|584281|585309|586885|587157|588153|589458|620373|620374|620827|679774|701512|701513|712547|724152|730721|737687|737688|752372|791021|866740|866741|866742|866743|866744|866745|866746|866747|866748|866749|866750|866751|866752|866753|866754|866755|866756|866757|866758|866759|866760|866761|866762|866763|866764|866765|868568|868569|868570|868571|868572|868573|868574|868575|868576|919311", + "text": "Dubin-Johnson syndrome" + }, + { + "baseId": "23459|23460|23461|23462|23463|23464|23465|267313|276389|276390|276391|276616|276619|276620|277128|277136|277137|277234|277235|277236|356980|356981|356982|356983|356984|356985|356986|356987|356988|356989|356990|356991|356992|356993|356994|356995|356996|540638|540640|540642|540644|540645|540646|540647|540651|540656|540657|540660|540661|540673|540674|540676|540678|612342|612343|626804|718194|729917|761188|789840|862253|862254|862255|862256|862257|862258|965348|970194|970195|977442", + "text": "Pyknodysostosis" + }, + { + "baseId": "23466|23467|23468|23470|23476|23484|39114|132606|213835|213837|589820|614028|614030|614032|965414", + "text": "Charcot-Marie-Tooth disease, type IA" + }, + { + "baseId": "23466|23473|29225|29233|53814|135065|141945|213835|238157|244249|276934|276937|276938|276943|276944|277211|277215|277216|277906|277907|277912|277913|277914|278013|278014|278015|278016|278027|353066|360806|361005|515330|625074|862595|862596|862597|862598|862599|862600|862601|862602|862603|862604|918578|918579", + "text": "Roussy-L\u00e9vy syndrome" + }, + { + "baseId": "23467|23470|23472|23473|23475|23476|23478|23483|29205|29206|29208|29212|29213|29214|29215|29216|29219|29220|29222|29223|29224|29225|29226|29227|29230|29233|29239|31789|31791|31792|38402|49430|49436|49439|49442|49443|49444|49446|53814|77593|135065|141945|142213|185951|185952|186243|186244|191366|192233|192234|204407|204408|204409|212075|212076|213241|213453|213517|213794|213795|213835|213837|214923|214924|221083|221981|221982|222558|222559|231450|237458|238156|238157|242575|242576|244249|244253|244254|244557|244559|244560|245013|245139|253796|270003|276943|277216|277906|278016|278027|304957|304958|304973|304974|304975|304979|304980|304991|304992|305003|305004|305005|308674|308688|310595|313936|313937|315762|315780|315781|321847|321857|324035|324057|324065|324082|327314|327315|330287|333669|333690|337130|337131|337134|337137|337141|337142|337143|337144|340454|341835|343368|343369|343372|343373|343376|343377|343380|344947|344960|344962|344963|344969|353066|359218|371720|375769|375772|375773|375775|378084|378091|390835|390836|390840|390842|390844|390849|390850|390852|390858|390859|390862|397323|397504|397512|397736|397737|401543|402264|404969|407875|407876|421187|421794|433525|437825|440400|440401|440403|440404|440405|440408|441377|441940|442659|444624|447245|447248|447257|447324|447367|447368|447420|447429|447431|447434|447442|459945|459960|460099|460366|460790|460793|466342|467061|467108|467286|467288|491084|503371|515225|515228|515230|515232|515234|515239|515240|515241|515242|515243|515246|515252|515253|515259|515261|515263|515330|515335|515337|520902|525199|525200|525382|525491|525673|525677|525680|525681|527026|530579|530589|530625|530750|530827|530868|531082|531096|531099|531103|540438|556660|556662|556664|556666|556719|556721|556723|556725|557009|557010|557012|557014|558196|558198|558200|558202|562971|563802|564625|564627|566353|566357|566367|569691|569693|569697|570742|570764|570773|570776|570790|570862|574244|574305|574306|574308|574310|577154|588854|613532|619958|621911|621912|621913|621914|621915|625018|625026|625050|625053|625076|625083|625084|625085|625202|625368|625377|625393|625402|627021|627022|627023|627024|627025|627026|627027|627028|638985|638986|638987|638988|638989|638990|638991|638992|638993|645317|645318|645319|645320|645321|648104|650641|650671|650673|652616|652786|652789|653330|682957|682962|682969|682986|682988|682989|682991|683000|683011|683014|683016|683017|683021|683040|683043|683050|683051|683053|683068|683070|683072|683075|683098|683099|683103|683105|683107|683108|683111|683114|684183|684186|692868|694045|694046|695012|745799|799140|800386|815847|818849|818850|820981|820982|822931|822932|822933|822934|822935|822936|822937|822938|822939|822940|822941|822942|822943|822944|836991|836992|836993|836994|836995|836996|836997|836998|836999|837000|837001|837002|837003|844718|844719|844720|851157|876804|876805|876806|876807|876808|876809|876810|876811|876812|876813|876814|876815|876816|876817|876818|876819|876820|905111|905277|921717|921718|921719|921720|921721|925841|925842|925843|925844|925845|925846|928065|930122|930123|935081|935082|935083|935084|935085|935086|937726|937727|939778|939779|941546|941547|941548|946954|946955|946956|946957|946958|946959|946960|949706|949707|952125|956114|956115|956116|957987|957988|960410", + "text": "Charcot-Marie-Tooth disease, type I" + }, + { + "baseId": "23469|23470|23474|23476|23482|23484|23485|77741|249644|327314|327315|337130|337131|337134|337137|337141|337142|337143|337144|343368|343369|343372|343373|343376|343377|343380|344947|344960|344962|344963|344969|378084|401543|613851|613982|614029|614031|614033|625366|625370|625371|791676|876804|876805|876806|876807|876808|876809|876810|876811|876812|876813|876814|876815|876816|876817|876818|876819|876820|906321", + "text": "Hereditary liability to pressure palsies" + }, + { + "baseId": "23469", + "text": "Polyneuropathy, inflammatory demyelinating" + }, + { + "baseId": "23470", + "text": "Charcot-Marie-Tooth disease, type 1a, autosomal recessive" + }, + { + "baseId": "23471|23472|23473|23477|23478|29208|29209", + "text": "Dejerine-Sottas syndrome, autosomal dominant" + }, + { + "baseId": "23475|23479|23480|23483|39114|204478|426772", + "text": "Charcot-Marie-Tooth disease and deafness" + }, + { + "baseId": "23476|29067|29068|29069|29072|49659|49660|49660|77568|77570|77573|77574|77576|77578|77583|77585|77586|77589|77591|77592|77593|77595|165492|165493|190114|212633|221757|221757|221758|221759|231697|231697|240337|244521|271257|313846|354198|359731|369456|369891|371764|371768|371773|396414|396416|396498|396501|396504|396510|396514|396771|396772|396778|438381|441226|441227|441228|457720|458304|458307|458312|458315|458357|458365|458664|501992|523409|523411|523414|523419|523725|523974|523976|523978|523981|523983|523988|523991|562265|562270|562272|562273|562276|562795|564967|564969|564971|564976|567732|567738|567747|637022|637023|637024|637025|637026|637027|637028|637029|637030|637031|637032|637033|637034|637035|637036|637037|637038|637039|637040|637041|651712|651836|683998|766741|783078|834550|834551|834552|834553|834554|834555|834556|834557|834558|834559|834560|834561|834562|834563|834564|834565|834566|851682|899369|925144|925145|925146|934233|934234|934235|946000|946001|946002|946003|946004|946005|946006|955385|955386|964301", + "text": "Charcot-Marie-Tooth disease type 2E" + }, + { + "baseId": "23481", + "text": "Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths" + }, + { + "baseId": "23483", + "text": "PMP22-Related Disorders" + }, + { + "baseId": "23486|23487|39113|249980|267189|270847|272086|273530|359074|365343|414803|418809|418809|418810|448226|489784|492837|609191|628136|628137|628138|628138|628139|628140|628141|628142|654212|690635|690636|690637|696788|746547|780725|824218|824219|824220|824221|824222|824223|824224|824225|824226|824227|824228|824229|918642|922113|922114|930589|930590|930591|930592|930593|930594|930595|942025|942026|942027|942028|952463|971542", + "text": "Congenital primary aphakia" + }, + { + "baseId": "23490|23491|23492|23495|23496|23498|39112|181384|456064|486790|962066|962069|980581", + "text": "Anterior segment dysgenesis 3" + }, + { + "baseId": "23493|23494|23497|23499|23500|39112|106553|177717|177719|190372|259842|270898|362195|362196|362197|362198|362199|362200|362201|362202|362203|362204|362205|362206|362207|362208|362209|362210|415036|424244|455426|455532|455761|456064|456064|456254|456255|486789|521484|521490|521491|521792|521798|521801|521807|550782|560652|563468|563473|582906|634761|634762|634763|654128|691969|691970|721868|765582|831733|831734|831735|831736|831737|831738|831739|831740|831741|904270|919016|919017|933242|933243|980581", + "text": "Axenfeld-Rieger syndrome type 3" + }, + { + "baseId": "23501|23502|23503|23504|230673|326503|326532|336303|336309|336327|336349|336352|342536|342543|342561|344160|344180|361003|551792|677038|677058|679795|740408|788963|788964|788965|788966|788967|788968|788969|788970|788971|788972|788973|788974|788975|788976|801561|805106|857705|857706|857707|857708|857709|904753|904754|962047|963335|963336|963337|963338|965232|965233|965626", + "text": "Persistent fetal circulation syndrome" + }, + { + "baseId": "23505|39111|165487|165488|165489|192098|194890|213217|213220|213221|222532|222533|242494|244988|244990|244999|267234|272210|326182|326184|326192|326194|326195|326197|326198|335862|335871|335876|335878|335882|335885|335888|335889|335893|335895|335897|335900|342247|342248|342252|342254|342256|342262|343797|343802|343808|343812|343816|343818|343825|343833|343834|343836|343842|343847|343848|343849|375578|377737|377740|445605|466646|505726|530520|540466|570422|620560|656385|677307|688633|688639|693916|799083|875884|875885|875886|875887|875888|875889|875890|875891|875892|875893|875894|875895|875896", + "text": "Charcot-Marie-Tooth disease, type 2N" + }, + { + "baseId": "23506|205252|205702", + "text": "Lipodystrophy, congenital generalized, type 3" + }, + { + "baseId": "23507|23508|23509|23510|23511|23512|23513|191808|191919|213592|213592|214539|215001|253525|253526|253527|253532|264328|264531|267452|268539|268541|308235|308243|308244|308246|308247|308255|312609|312619|312628|312631|312632|312633|318524|318528|318529|318534|318546|319032|319044|319050|319056|444478|459539|459541|459547|524550|524557|524945|525101|525102|525108|563943|563947|565887|569010|584135|638217|638218|638219|638221|692665|861363|901964|901965|901966|901967|901968|901969|901970|901971|901972|901973|901974|901975|903395|903396|903397|903398|903399|903400|919228|964331", + "text": "Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1" + }, + { + "baseId": "23507|23508|23512|23513|191808|191919|253525|253530|264531|267452|268539|271637|318534|319032|319044|459155|459541|460014|460015|492903|524547|524552|524559|525095|563957|585434|586972|588557|638220|692665|700987|723557|737120|759748|767391|779588|836083|836084|836085|836086|836087|851337|901972|925568|925569|934747|934748|934749|934750|946600|946601|946602|955811|955812", + "text": "Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia" + }, + { + "baseId": "23507|23507|23508|23508|23512|23512|23513|39108|39109|191808|191808|191919|191919|213592|214539|215001|253525|253525|253526|253527|253530|253532|264328|264328|264531|267452|267452|268539|268539|268541|271637|308235|308243|308244|308246|308247|308255|312609|312619|312628|312631|312632|312633|318524|318528|318529|318534|318534|318546|319032|319032|319044|319044|319050|319056|384436|444478|459155|459539|459541|459541|459547|460014|460015|492903|524547|524550|524552|524557|524559|524945|525095|525101|525102|525108|563943|563947|563957|565887|569010|584135|585434|586972|588557|638217|638218|638219|638220|638221|692665|692665|700987|723557|737120|759748|767391|779588|836083|836084|836085|836086|836087|851337|861362|901964|901965|901966|901967|901968|901969|901970|901971|901972|901972|901973|901974|901975|903395|903396|903397|903398|903399|903400|925568|925569|934747|934748|934749|934750|946600|946601|946602|955811|955812", + "text": "Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia" + }, + { + "baseId": "23515|142925|142927|186287|188710|188716|188722|188723|188726|188733|188734|188743|188744|189373|189376|189377|199810|213468|222853|243578|259046|259049|259050|259052|259054|259059|259063|335276|335279|335290|345097|345102|345105|345107|345111|345112|345116|349881|349882|349884|349885|350900|350901|350904|350907|350909|350911|350913|350918|376975|379690|424903|551796|609299|656631|800173|800174|886010|886011|886012|886013|886014|886015|886016|886017|886018|886019|886020|886021|886022|886023|887454", + "text": "Long QT syndrome 12" + }, + { + "baseId": "23516|23517|23518|23519|23521|23522|23524|23525|34307|34308|34309|34310|34311|106599|136651|181440|194949|244008|266785|274813|330513|339018|363908|547270|547276|547284|547290|547357|547359|547365|547849|547851|547867|642685|652325|714233|725798|820646|841724|841725|872544|903598|972198|972199|972200|972201|972202|979527|979528|979529|979530|979531", + "text": "Niemann-Pick disease, type C2" + }, + { + "baseId": "23526|23527|23528|23529|23536|23538|23542|23543|23544|23546|23549|23552|23559|79314|79317|79320|79324|79326|79327|79330|99466|134003|134004|134005|134009|193096|193096|208540|248801|256789|264732|376191|376243|376246|377390|410491|410492|422242|426285|430969|442048|442070|446057|446061|552215|577721|672109|919827|919828|919829|919830|919831|920400|920401|964508|980555|983696", + "text": "Familial hemiplegic migraine type 1" + }, + { + "baseId": "23527", + "text": "Migraine, sporadic hemiplegic, with progressive cerebellar ataxia" + }, + { + "baseId": "23527|23527|23530|23531|23534|23535|23537|23539|23540|23541|23543|23545|23546|23546|23547|23549|23549|23550|23551|23553|23554|23555|23556|23557|23558|79309|79310|79311|79311|79312|79313|79315|79316|79316|79317|79321|79322|79323|79323|79325|79325|79328|79329|79331|79331|79332|79333|79333|79334|91842|99465|99466|99466|99467|133993|133994|133996|133997|133998|133999|134001|134003|134003|134004|134004|134005|134005|134006|134007|134008|134009|177164|177532|185732|185733|185733|185734|191883|192090|192631|192632|192633|192734|192735|193096|193096|193096|194021|194189|194675|208539|208540|213651|213651|248801|256787|256788|256789|256789|260210|264734|266969|266972|267411|267413|267747|267751|268395|268604|269763|270514|270928|270971|271647|271779|271799|273020|273117|273653|274636|360387|360395|360398|360515|361043|361322|361323|361324|363833|364143|376191|376198|376199|376234|376238|376243|376243|376261|376272|376273|376274|376287|376288|376310|376311|376321|376326|377218|377233|377235|377235|377237|377242|377256|377257|377259|377266|377276|377284|377297|377306|377312|377369|377389|377390|377390|377403|377416|377421|377461|377469|377470|377475|377488|377501|377505|377507|377515|379318|379318|379328|379340|379361|379363|379381|379394|379395|379400|379406|379423|379430|379440|379453|379478|410478|410481|410482|410484|410485|410489|410490|410491|410491|410492|410499|410504|410512|410515|410516|410519|410520|410521|410527|410528|410530|410534|410540|413495|415626|415628|415630|415631|415633|422239|422242|422242|422243|426283|426285|426288|430128|430130|430133|442048|442051|442052|442054|442058|442059|442062|442063|442068|442070|442071|442076|442079|442080|442082|442083|442085|442086|442087|442088|442565|446042|446045|446046|446054|446055|446057|446057|446059|446061|468502|468507|468509|468511|468512|468515|468517|468520|468525|468529|468530|469406|469410|469414|469418|469427|469430|469435|469437|469439|469456|469463|469816|469827|469830|469833|469834|469846|469850|469857|469858|469861|469868|469874|469876|469896|470453|470470|470475|491610|491801|492026|492275|494058|506779|506786|507172|507176|507198|507524|507552|507580|532711|532721|532722|532728|532729|532730|532732|532734|532737|532743|532757|532767|532769|532773|532785|532786|532805|532808|532811|533145|533146|533150|533152|533157|533158|533167|533168|533172|533177|536091|536183|536183|536978|538484|551795|553275|553399|570517|570532|570535|570542|570543|570548|570549|570552|570554|570563|572233|572238|572239|572247|572248|572255|572256|572258|572260|572264|572265|572934|572936|572939|572944|572945|572946|572947|572949|572950|572951|572953|572954|572956|572960|572962|572964|574784|574880|574882|574884|574886|574887|574888|574889|574890|574891|574892|574893|574894|576271|577709|577712|577718|577725|577735|578564|580333|580341|580401|580440|580480|580489|580491|588767|590086|609152|613115|613615|621916|625824|647723|647724|647725|647726|647727|647728|647729|647730|647731|647732|647733|647734|647735|647736|647737|647738|647739|647740|647741|647742|647743|647744|647745|647746|647747|647748|647749|647750|647751|647752|647753|647754|647755|647756|647757|647758|647759|647760|647761|647762|647763|647764|647765|647766|647767|647768|647769|647770|647771|647772|647773|647774|652944|653011|653151|653154|653604|654868|670091|672109|679806|704766|704768|704769|704770|704771|704772|727919|727920|727921|741605|741606|756734|756736|756740|760688|760759|760809|760813|772443|772444|772446|772450|772454|772456|772464|772465|776559|776566|778499|786076|786079|786081|786082|788040|788260|791901|791902|791903|791904|791905|791905|791906|791907|793735|797733|797737|797743|797745|798741|821240|821241|821242|847326|847327|847328|847329|847330|847331|847332|847333|847334|847335|847336|847337|847338|847339|847340|847341|847342|847343|847344|847345|847346|847347|847348|847349|847350|847351|847352|847353|847354|847355|847356|847357|847358|847358|847359|847360|847361|847362|847363|847364|847365|847366|847367|847368|847369|847370|847371|847372|847373|847374|847375|847376|847377|847378|847379|847380|847381|847382|847383|847384|847385|847386|847387|851795|851797|852310|852313|852962|928861|928862|928863|928864|928865|928866|928867|928868|928869|928870|928871|928872|928873|928874|928875|928876|928877|928878|928879|928880|928881|928882|928883|928884|928885|928886|928887|938582|938583|938584|938585|938586|938587|938588|938589|938590|938591|938592|938593|938594|938595|938596|938597|938598|938599|938600|938601|940472|941226|950683|950684|950685|950686|950687|950688|950689|950690|950691|950692|950693|950694|950695|950696|950697|950698|950699|958546|958547|958548|958549|958550|958551|958552|958553|958554|958555|958556|960284|960285|960308|962871|962917|964511|967216|969614|969710", + "text": "Episodic ataxia type 2" + }, + { + "baseId": "23527|23546|23549|79311|79316|79323|79325|79331|79333|91842|99465|99466|99467|133993|133994|133996|133997|133998|133999|134001|134003|134004|134005|134006|134007|134008|177164|177532|185733|191883|192090|192090|192631|192632|192633|192734|192735|192735|193096|193096|194021|194189|194675|208539|208540|213651|248800|248801|248801|248802|256787|256788|256789|260210|264734|266969|266972|267411|267413|267747|267751|268395|268604|269763|270514|270928|270971|271647|271779|271799|273020|273117|273653|274636|360387|360395|360398|360515|361043|361322|361323|361324|363833|364143|376191|376198|376199|376234|376238|376243|376243|376243|376261|376272|376273|376273|376274|376287|376288|376310|376311|376321|376326|377218|377233|377235|377237|377242|377256|377257|377259|377266|377276|377284|377297|377306|377312|377369|377389|377390|377390|377403|377416|377421|377461|377469|377470|377475|377488|377501|377505|377507|377515|379318|379328|379361|379363|379381|379394|379395|379400|379406|379423|379430|379440|379453|379478|410478|410481|410482|410484|410485|410489|410490|410491|410491|410492|410499|410503|410504|410506|410515|410516|410519|410520|410521|410527|410527|410528|410530|410534|410540|413495|413495|415626|415628|415630|415631|415633|422239|422242|422242|422243|426283|426285|426288|430133|442048|442051|442052|442054|442058|442059|442062|442063|442068|442070|442071|442076|442078|442079|442080|442082|442083|442085|442086|442087|442088|446042|446045|446046|446054|446055|446057|446057|446059|446061|468502|468507|468509|468511|468512|468515|468517|468520|468525|468529|468530|469406|469410|469414|469418|469427|469430|469435|469437|469439|469456|469463|469816|469827|469830|469833|469834|469846|469850|469857|469858|469861|469868|469874|469876|469896|470453|470470|470475|481343|491610|491801|492026|492275|494058|506779|506786|507172|507176|507198|507524|507552|507580|511017|532711|532721|532722|532728|532729|532730|532732|532734|532737|532743|532757|532767|532769|532773|532785|532786|532805|532808|532811|533145|533146|533150|533152|533157|533158|533167|533168|533172|533177|536183|536978|551795|570517|570532|570535|570542|570543|570548|570549|570552|570554|570554|570563|572233|572238|572239|572247|572248|572255|572256|572258|572260|572264|572265|572934|572936|572939|572944|572945|572946|572947|572949|572950|572951|572953|572954|572956|572956|572960|572962|572964|574784|574880|574882|574884|574886|574887|574888|574889|574890|574891|574892|574893|574894|577709|577712|577718|577721|577725|577735|580333|580341|580401|580440|580480|580489|580491|588767|613115|621916|625825|647723|647724|647725|647726|647727|647728|647729|647730|647731|647732|647733|647734|647735|647736|647737|647738|647739|647740|647741|647742|647743|647744|647745|647746|647747|647748|647749|647750|647751|647752|647753|647754|647755|647756|647757|647758|647759|647760|647761|647762|647763|647764|647764|647765|647766|647767|647768|647769|647770|647771|647772|647773|647774|647774|652944|653011|653151|653154|653604|670091|704766|704768|704769|704770|704771|704772|727919|727920|727921|741605|741606|756734|756736|756740|760688|760759|760809|760813|772443|772444|772446|772450|772454|772456|772464|772465|776559|776566|778499|786076|786079|786081|786082|788040|788260|791905|793735|797733|797737|797745|802024|821240|821241|821242|847326|847327|847328|847329|847330|847331|847332|847333|847334|847335|847336|847337|847338|847339|847340|847341|847342|847343|847344|847345|847346|847347|847348|847349|847350|847351|847352|847353|847354|847355|847356|847357|847358|847359|847360|847361|847362|847363|847364|847365|847366|847367|847368|847369|847370|847371|847372|847373|847374|847375|847376|847377|847378|847379|847380|847381|847382|847383|847384|847385|847386|847387|851795|851797|852310|852313|852962|858580|903632|906207|928861|928862|928863|928864|928865|928866|928867|928868|928869|928870|928871|928872|928873|928874|928875|928876|928877|928878|928879|928880|928881|928882|928883|928884|928885|928886|928887|938582|938583|938584|938585|938586|938587|938588|938589|938590|938591|938592|938593|938594|938595|938596|938597|938598|938599|938600|938601|940472|941226|950683|950684|950685|950686|950687|950688|950689|950690|950691|950692|950693|950694|950695|950696|950697|950698|950699|958546|958547|958548|958549|958550|958551|958552|958553|958554|958555|958556|960284|960285|960308|963181|964161|964505|964507|964509|964510|964512|964887|971115|971116|971117|971118|983567", + "text": "Epileptic encephalopathy, early infantile, 42" + }, + { + "baseId": "23527|23535|23544|23546|23549|79323|193096|208540|213651|248801|376191|376243|376243|377390|410491|410492|422242|426285|442048|442070|446057|446061|553275|578564|609334|626271|672109|964506", + "text": "Spinocerebellar ataxia type 6" + }, + { + "baseId": "23544", + "text": "Migraine, sporadic hemiplegic" + }, + { + "baseId": "23548", + "text": "Episodic ataxia, type 2, and epilepsy" + }, + { + "baseId": "23560|23562|23563", + "text": "LEPTIN RECEPTOR POLYMORPHISM" + }, + { + "baseId": "23560|23562|23563|45129|206996|281113|281114|281120|281121|281124|281133|281139|281140|281144|281740|281741|281742|281750|281751|281752|281759|281762|281763|282919|282920|282921|282944|282947|282950|283218|283224|283238|283242|283245|288641|298389|298390|298394|298395|298401|298402|298403|298407|298408|298415|298417|298418|300698|300699|300709|300710|300711|300726|300728|300729|300730|300733|300735|300740|300741|300742|300750|300756|301785|301796|301797|301798|301799|301801|301802|301808|301809|301813|301816|301817|301818|301824|301825|304949|304950|304951|304954|304956|304970|304978|305090|305097|305100|305102|305104|305111|305113|305114|305127|305129|305130|305136|305138|305139|305140|305239|305243|305244|305251|305252|305253|305264|305265|309593|309599|309601|309602|309603|309604|309629|309630|309638|309639|309640|309645|309654|309657|309658|309780|309781|309784|309785|309786|309790", + "text": "Monogenic Non-Syndromic Obesity" + }, + { + "baseId": "23560|23561|23562|23563|45129|281113|281114|281120|281121|281124|281133|281139|281140|281144|281740|281741|281742|281750|281751|281752|281759|281762|281763|282919|282920|282921|282944|282947|282950|283218|283224|283238|283242|283245|380185|446902|480430|611351|654157|696844|707497|732564|732565|794002|864739|864740|864741|864742|864743|864744|864745|864746|864747|864748|864749|864750|864751|864752|864753|864754|864755|864756|864757|864758|864759|864760|864761|864762|864763|864764|864765|864766|864767|864768|864769|864770|865202|865203|865204|918645", + "text": "Leptin receptor deficiency" + }, + { + "baseId": "23564|23565|23566|23567|23568|23569|23570|335314|335316|335318|335324|335327|335328|335331|345149|345160|345161|345164|345165|345167|345171|345184|345187|349905|349907|349909|350928|350931|350932|378007|469355|488009|507307|620657|648641|648642|689197|786361|848318|852373|886033|886034|886035|886036|886037|886038|886039|886040|886041|886042|886043|886044|929165|929166|938947|951046|958813", + "text": "Gluthathione synthetase deficiency" + }, + { + "baseId": "23570", + "text": "Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to" + }, + { + "baseId": "23571|23572|23573|23574", + "text": "Prostate cancer/brain cancer susceptibility" + }, + { + "baseId": "23581", + "text": "Juvenile polyposis of stomach" + }, + { + "baseId": "23581|23582|23584|23586|23587|36139|36140|36152|36168|36169|36173|36174|36176|36178|36181|36191|36210|36211|36212|36213|36215|36216|36217|36219|36220|39106|39106|47345|50227|133407|136441|136493|139786|142921|142922|142923|151879|151967|151967|181036|181036|185427|185427|185428|185438|185443|236534|243064|243077|331636|331637|331639|331641|331643|331644|331645|331648|331650|331653|331656|331664|331698|331707|331711|341892|341894|341895|341897|341898|341903|341904|341916|341919|341922|341923|341928|341929|341937|341940|341949|341956|341957|341959|341961|347245|347248|347262|347263|347266|347267|347274|347278|347279|347284|347285|347288|347289|347292|347293|347295|347297|347313|347315|347320|347323|347325|347333|347337|347339|347340|348573|348574|348576|348581|348598|348600|348602|348609|348610|348611|348621|348622|348626|348628|348632|348633|348642|348644|348645|348652|348669|348680|361883|377048|377096|379055|403342|410379|468069|468948|468989|479334|479365|485542|539082|588885|618917|879352|879353|879354|879355|879356|879357|879358|879359|879360|879361|879362|879363|879364|879365|879366|879367|879368|879369|879370|879371|879372|879373|879374|879375|879376|879377|879378|879379|879380|879381|879382|879383|879384|879385|879386|879387|879388|879389|879390|879391|879392|879393|879394|879395|879396|879397|879398|879399|879400|879401|879402|879403|879404|879405|879406|879407|879408|879409|879410|879411|879412|879413|879414|879415|880666|970632", + "text": "Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome" + }, + { + "baseId": "23582", + "text": "JP, JP/HHT, and HHT" + }, + { + "baseId": "23582|23584|27386|27388|27393|27394|27395|27398|27403|27404|27405|27407|27408|27409|27641|27642|27652|28691|28692|28694|28695|28698|32616|32618|32622|32625|36171|36173|40609|48304|54418|66133|80852|133271|133272|133277|139098|150535|151476|151595|151955|152428|171613|171614|176503|181000|181001|181005|185345|185366|185367|185371|185375|185394|213392|213398|213402|213943|222738|232035|236459|236461|236463|236468|236469|236477|236479|236481|242978|242980|245074|260191|260192|360335|362773|362775|362844|362870|362871|362894|362895|362896|363110|363113|363114|363123|363179|363195|363264|363270|363271|363272|363280|363281|363282|363293|363294|363295|363296|363297|363302|363303|363304|363305|363310|363311|363337|363338|363352|363353|363354|363360|363398|363399|363400|363416|363417|363418|363419|363420|363438|363439|363440|363441|363442|363448|363449|363450|363451|363452|363453|363454|363455|363456|363457|363458|363459|363460|363461|363462|363463|363469|363470|363471|363472|363473|363474|363475|363476|363477|363478|363479|363480|363481|363482|363483|363484|363485|363486|363487|363488|363489|363490|363491|363492|363493|363494|363495|363496|363497|363498|363499|363500|363501|363502|363503|363504|363505|363506|363507|363508|363509|363510|363511|363515|363518|363519|363520|363521|363522|363523|363524|363525|363528|363529|363530|363531|363532|363533|363534|363535|363536|363537|363538|363539|363540|363541|363542|363543|363544|363545|363546|363547|363548|363549|363550|363551|363558|363559|363560|363561|363562|363563|363564|363565|363569|363570|363571", + "text": "Carcinoma of esophagus" + }, + { + "baseId": "23584|36164|36168|36171|36173|36177", + "text": "JP and JP/HHT" + }, + { + "baseId": "23588|23589|23590|23591|153864", + "text": "Ehlers-Danlos syndrome, classic-like, 1" + }, + { + "baseId": "23592|23593|23594|23595|23597|23598|23599|23600|23601|23602|23603|23604|23605|23606|23607|23608|23609|23610|23611|250580|250581|250582|251335|251336|251337|251338|251701|251704|251708|284888|284890|284891|284895|284896|284900|284901|284908|284917|284918|284919|284927|284928|284929|284931|284932|284933|284937|284944|284950|285544|285558|285564|285572|285574|285576|285577|285578|285579|285590|285593|285595|285596|285597|285598|285604|285612|287888|287890|287893|287895|287908|287920|287924|287926|287927|287928|287930|287931|287932|287933|287934|288133|288135|288136|288137|288146|288149|288151|288168|288169|288183|288184|288186|288198|288199|288200|288204|288206|292377|292379|292380|292400|292401|292411|292417|292419|292423|292425|292426|292433|292434|292435|292436|292442|292444|292445|292447|292448|292451|292452|292458|292460|292464|292465|292466|293818|293819|293821|293822|293851|293854|293855|293856|293857|293859|293863|293873|293874|293880|293882|293893|293895|293901|295398|295409|295423|295425|295426|295429|295430|295435|295438|295443|295445|295446|295447|295453|295456|295461|295469|295470|297127|297137|297138|297142|297149|297150|297153|297162|297166|297167|297168|297171|297175|297186|297192|297195|297198|297203|297204|297205|297206|297207|297208|297209|297211|297212|297214|297218|297226|297227|297228|297231|297234|297235|297236|297237|297240|297242|297243|297244|297246|297249|297250|297257|297259|297260|297262|297263|297265|297266|297270|297274|297275|297277|301006|301017|301019|301021|301034|301035|301046|301060|301067|301079|301082|301087|301091|301094|301097|301099|301103|301104|301107|301109|301124|301132|301133|301144|301145|301149|301158|301161|301170|301171|301173|301183|301185|301186|301187|301197|301211|301215|301216|301218|301226|301253|301264|336077|336082|336092|345793|345811|345812|350275|351296|353666|513049|550280|612144|612440|709185|720781|890188|890189|890190|890191|890192|890193|890194|890195|890196|890197|890198|890199|890200|890201|890202|890203|890204|890205|890206|890207|890208|890209|890210|890211|890212|890213|890214|890215|890216|890217|890218|890219|890220|890221|890222|890223|890224|890225|890226|890227|890228|890229|890230|891752|921209|977206", + "text": "Autosomal dominant pseudohypoaldosteronism type 1" + }, + { + "baseId": "23596", + "text": "Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy" + }, + { + "baseId": "23612|23613|23614|23615|195332|267197|272449|275013|294535|294536|294541|294545|294546|294548|294550|294551|294553|294557|296087|296090|296091|296092|296097|296101|296104|299760|299761|299765|299766|299770|299771|299780|299783|299784|299789|299853|299857|299863|299865|299866|299871|299873|491339|734757|892447|892448|892449|892450|892451|892452|892453|892454|892455|892456|892457|892458|892459|892460|892461|892462|892463|892464|892465|892466|892467|892468", + "text": "Autosomal recessive hypophosphatemic vitamin D refractory rickets" + }, + { + "baseId": "23616|23619|23621|23622|54297|54298|54299|54300|54301|54303|54305|54307|54311|54318|54320|54321|54322|54325|54326|54327|54330|54331|54333|174003|174004|174012|174013|174014|174017|174141|174147|174149|229508|237602|252537|252538|301048|301058|301062|301064|301072|301077|301081|301083|301088|301089|301092|301100|301102|301106|304036|304046|304047|304050|304053|304054|304065|304068|304086|304096|304100|304103|304104|304105|304111|304112|304113|304114|308739|308766|308771|308776|308797|308798|308799|308809|308810|308815|308816|308832|308833|308835|308837|308838|308839|308840|308841|308844|308845|308850|308853|308854|308860|308862|308864|308868|308870|308877|308879|308880|308897|308899|308900|308903|308907|384404|389225|535237|788806|802074|896856|896857|896859|896860|896861|896863|896865|896866|896867|896868|896876|896877|896878|896879|896880|896881|896882|896883|896884|896885|896886|896887|896888|896889|896890|896891|896892|896893|896894|896895|896896|896897|896898|896899|896900|896901|896902|896903|896904|896905|896906|896907|896908|896909|896910|896911|896912|896913|896914|896915|896916|896917|896918|896919|896920|896921|896922|896923|896924|896925|896926|896927|896928|896929|896930|896931|896932|896933|900270|900272|900273|905843|966150", + "text": "Deafness, autosomal dominant 22" + }, + { + "baseId": "23617|23618|23619|54297|54298|54299|54300|54301|54303|54305|54307|54311|54318|54320|54321|54322|54325|54326|54327|54330|54331|54333|174004|174012|174013|174017|174141|174147|174149|229508|252537|252538|301048|301058|301062|301064|301072|301077|301081|301083|301088|301089|301092|301100|301102|301106|304036|304046|304047|304050|304053|304054|304065|304068|304086|304096|304100|304103|304104|304105|304111|304112|304113|304114|308739|308766|308771|308776|308797|308798|308799|308809|308810|308815|308816|308832|308833|308835|308837|308838|308839|308840|308841|308844|308845|308850|308853|308854|308860|308862|308864|308868|308870|308877|308879|308880|308897|308899|308900|308903|308907|896856|896857|896859|896860|896861|896863|896865|896866|896867|896868|896876|896877|896878|896879|896880|896881|896882|896883|896884|896885|896886|896887|896888|896889|896890|896891|896892|896893|896894|896895|896896|896897|896898|896899|896900|896901|896902|896903|896904|896905|896906|896907|896908|896909|896910|896911|896912|896913|896914|896915|896916|896917|896918|896919|896920|896921|896922|896923|896924|896925|896926|896927|896928|896929|896930|896931|896932|896933|900270|900272|900273|919062", + "text": "Deafness, autosomal recessive 37" + }, + { + "baseId": "23620", + "text": "Sensorineural deafness with hypertrophic cardiomyopathy" + }, + { + "baseId": "23623|23624|23625|23626|23627|23628|23629|23630|23631|23632|23633|23634|23636|75381|75382|107257|205181|205781|227375|227376|227377|227378|255829|255830|255831|255833|255834|255835|255836|255837|255838|255839|255840|255841|255842|255843|255845|260484|263861|325847|325851|325852|325857|325858|325863|325865|325866|325868|325872|325877|325883|325884|325885|325892|325898|325899|325902|325911|325912|325913|325915|325919|335481|335482|335487|335490|335491|335494|335496|335498|335499|335501|335502|335503|335514|335515|335518|335520|335522|335532|335535|341925|341930|341933|341936|341943|341947|341951|341952|341955|341960|341966|341969|341972|341977|341981|341982|341986|341987|341988|341990|343451|343454|343455|343458|343461|343462|343464|343467|343468|343470|343477|343480|343481|343482|343483|343484|343485|343486|343487|343489|343492|343493|360256|375217|384423|390201|390646|404824|404825|430987|431547|431548|439088|441908|441909|441911|441912|441913|441915|441916|442544|480535|481463|490237|497693|497694|513133|513134|539066|553531|553632|577552|577557|608917|620550|620551|620552|620553|620554|620555|623340|623341|644767|644770|644771|644774|644775|652576|653041|703747|714981|714982|714983|714984|714985|726695|726696|726697|731074|731075|740265|740267|740268|740269|740270|744861|744964|744966|755260|755261|755265|755266|755267|770978|778315|780047|785313|785323|788039|788195|788202|791627|793637|793640|793642|802213|802214|818332|844026|844027|875531|875532|875533|875534|875535|875536|875537|875538|875539|875540|875541|875542|875543|875544|875545|875546|875547|875548|875549|875550|875551|875552|875553|875554|875555|875556|875557|875558|875559|875560|875561|875562|875563|875564|875565|875566|875567|875568|875569|875570|875571|875572|875573|875574|875575|875576|875577|875578|875579|875580|875581|875582|875583|876682|876683|876684|876685|962789|963375|964687|979805|979806|979807|980378|980379", + "text": "Familial hypokalemia-hypomagnesemia" + }, + { + "baseId": "23637|23638|23639|23640|226091|257151|818339", + "text": "Branchiootorenal syndrome 2" + }, + { + "baseId": "23647|23654|45263|45264|45266|45266|45269|45272|45275|45276|51669|51676|51694|51706|51716|51719|51732|51735|51736|51737|51742|51746|51747|51747|51755|51769|51777|51778|51788|51796|51797|51808|51815|51817|51822|51823|51826|51828|51833|51841|51852|51857|51870|51873|51875|51876|51879|51881|51889|51906|51910|51914|51928|51930|51931|51937|51938|51942|51945|51949|51950|51956|51959|51962|51963|51974|51977|51980|51983|75576|75578|142020|165560|171136|171136|171139|171141|171142|171143|171144|171145|174731|174756|174776|174778|175139|175143|175168|175197|179171|179223|179232|179351|179373|186345|314276|320888|326913|326929|326930|326931|326940|326949|327964|327976|327977|371466|372203|372209|374122|404802|415274|419284|461980|462012|504238|526245|609787|617882|623594|623595|676914|676915|676916|868092|868093|868094|868095|868096|868097|868098|868099|868100|868101|868102|868103|868104|868656|868657|868658|947492|964365|966806|970937", + "text": "Left ventricular noncompaction 10" + }, + { + "baseId": "23659", + "text": "Cardiomyopathy, familial hypertrophic, 4, susceptibility to" + }, + { + "baseId": "23661|23662|23663|23664", + "text": "Persistent mullerian duct syndrome, type I" + }, + { + "baseId": "23665|23666|23667|23668", + "text": "Persistent mullerian duct syndrome, type II" + }, + { + "baseId": "23669|416849", + "text": "Sleep-wake schedule disorder, delayed phase type" + }, + { + "baseId": "23670|23671|23672|23673|23674|23676|23676|23676|23678|23679|23680|23681|23682|23684|23687|23691|23692|23693|23694|23695|23696|23697|23698|23699|23701|23702|195212|195559|251969|251970|251971|265332|265333|265893|297646|297650|297653|297654|297655|297656|297663|297666|297670|297676|297677|299846|299851|299858|299860|299861|299864|299867|303980|303992|303993|303994|303996|304005|304007|304011|304012|304016|304017|304018|304027|304038|304048|304049|304376|304381|304382|304383|304390|304391|304397|304398|304400|304404|304407|384481|485736|485737|485738|585165|691861|721467|749517|798561|857407|894387|894388|894389|894390|894391|894392|894393|894394|894395|894396|894397|894398|894399|894400|894401|894402|894403|894404|894405|894406|894407|894408|894409|894410|894411|894412|894413|894414|894415|894416|894417|894418|896112|896113", + "text": "Laron-type isolated somatotropin defect" + }, + { + "baseId": "23675|23676|23676|23676|23677|23685|23691|195559|227287|248683|265893|290296|293367|293823|353646|918966|918967", + "text": "Short stature, idiopathic, autosomal" + }, + { + "baseId": "23683|23689", + "text": "Laron syndrome with elevated serum GH-binding protein" + }, + { + "baseId": "23686|23688|23690", + "text": "Laron syndrome with undetectable serum GH-binding protein" + }, + { + "baseId": "23700", + "text": "Increased responsiveness to growth hormone" + }, + { + "baseId": "23703|32152|32153|192304|791023", + "text": "Preterm premature rupture of membranes" + }, + { + "baseId": "23704|23712|23713|23714|23716|23717|23722|23722|23723|23725|23725|45093|168861|168862|168863|168866|168867|168870|168871|168875|168876|207828|207829|207832|207833|207834|207835|207839|207840|207840|244019|254062|269280|272064|313371|313372|313374|313375|313377|313379|313383|313385|313386|313387|319461|319463|319464|319466|319467|319469|319470|319474|319475|319487|319489|319490|319491|325610|325613|325623|325624|325625|325626|326645|326649|326650|326654|326655|326656|326657|326666|429186|429187|429189|545817|545820|545824|545826|545832|545841|546115|546116|546118|546118|546120|546120|546122|546127|546130|546134|546170|546173|546178|546187|546188|546193|546194|546201|546452|546454|546456|546458|546460|682320|783918|867601|867602|867603|867604|867605|867606|867607|867608|867609|867610|867611|867612|867613|976872", + "text": "Islet cell hyperplasia" + }, + { + "baseId": "23705|23706|23707|23708|23709|23710|23711|23715|23717|23718|23719|23722|23724|23725|24127|24141|24142|24143|24144|24146|24147|24148|24150|28426|28427|28428|31180|33927|33928|33929|33930|33966|33967|33969|33970|33972|33974|33975|33976|34017|34018|34019|34020|34021|34022|34045|34046|34047|34048|34049|34050|34051|34052|34053|34054|34055|34056|34057|39080|44267|44269|44273|44274|44278|44282|44288|44864|44866|44870|44872|44877|44886|44899|44906|44907|76489|76495|76496|79618|79621|79622|79623|79624|79625|134590|134593|135501|167529|167530|167532|167533|167534|167535|167536|167537|167539|167540|167543|167545|167546|167547|167550|167551|167553|167554|167555|168861|168863|168866|168867|168870|168870|168871|168875|168875|186812|186816|186819|190275|192808|207485|207828|207839|207840|207840|207850|207852|207853|207853|207854|207862|227344|252883|252884|254064|254068|254069|259865|269280|272064|303069|303070|303071|303072|303073|303074|306341|306342|306345|306346|306347|306348|310058|311169|311170|311172|311173|311302|311303|311306|311310|311312|313377|313386|313388|313389|313393|313399|313403|313405|313413|313414|313416|313419|313421|315653|315654|319492|319496|319498|319499|319504|319505|319511|319514|319516|319517|319521|319522|319523|319524|319528|321111|325626|325627|325629|325632|325633|325634|325635|325636|325642|325643|325644|325650|325651|326665|326666|326668|326673|326677|326678|326698|326700|326703|353177|380248|380249|424956|424957|424958|424959|424960|428730|428735|428737|428738|429186|429199|429201|429203|429208|429208|441126|441408|487507|545817|545820|545824|545826|545832|545841|545867|546115|546116|546118|546118|546120|546120|546122|546127|546130|546134|546170|546173|546178|546187|546188|546193|546194|546201|546326|546452|546454|546456|546458|546460|546501|576978|577180|614519|620396|692972|737885|752574|759683|768328|783918|783925|783933|867614|867615|867616|867617|867618|867619|867620|867621|867622|867623|867624|867625|867626|867627|867628|867629|867630|867631|867632|867633|867634|867635|868624|868625|868626|868627|868628|868629|898116|898117|898118|898119|898120|898121|898122|898123|898124|898125|898126|898127|898128|898129|898130|898131|898132|898133|898134|900365|900366|900367|900368|920296|961285|978877|978878|978879|978880|978881|978882|978883|978884|978885|978886|978887|978888|978889|978890|978891", + "text": "Permanent neonatal diabetes mellitus" + }, + { + "baseId": "23705|23715|23717|23720|23721|23722|23722|23725|45093|168861|168862|168863|168866|168867|168870|168871|168875|207828|207829|207832|207835|207839|207840|254062|269280|272064|313371|313372|313374|313375|313377|313379|313383|313385|313386|313387|319461|319463|319464|319466|319467|319469|319470|319474|319475|319487|319489|319490|319491|325610|325613|325623|325624|325625|325626|326645|326649|326650|326654|326655|326656|326657|326666|429186|545817|545820|545824|545826|545832|545841|546115|546116|546118|546120|546120|546122|546127|546130|546134|546170|546173|546178|546187|546188|546193|546194|546201|546452|546454|546456|546458|546460|783918|867601|867602|867603|867604|867605|867606|867607|867608|867609|867610|867611|867612|867613", + "text": "Transient neonatal diabetes mellitus 3" + }, + { + "baseId": "23705|23706|34056|168872|168873|168879", + "text": "Neonatal insulin-dependent diabetes mellitus" + }, + { + "baseId": "23705|23706|23707|23708|23709|23710|23711|23718|23719|23724|39091", + "text": "Permanent neonatal diabetes mellitus 2" + }, + { + "baseId": "23715|23717|23722|23725|45093|168861|168862|168863|168866|168867|168869|168871|207829|207835|207839|254062|313371|313372|313374|313375|313377|313379|313383|313385|313386|313387|319461|319463|319464|319466|319467|319469|319470|319474|319475|319487|319489|319490|319491|325610|325613|325623|325624|325625|325626|326645|326649|326650|326654|326655|326656|326657|326666|429186|472261|546118|546120|609051|783918|867601|867602|867603|867604|867605|867606|867607|867608|867609|867610|867611|867612|867613", + "text": "Maturity-onset diabetes of the young, type 13" + }, + { + "baseId": "23717", + "text": "Exercise stress response, impaired, association with" + }, + { + "baseId": "23717|167530|167546|167547|167553|167554|207839|313386|315653|315654|319521|325611|325626|326665|326666|353177", + "text": "Transient Neonatal Diabetes, Dominant" + }, + { + "baseId": "23717|167530|167546|167547|167553|167554|207839|291890|291906|293300|296582|313386|315653|315654|319521|325611|325626|326665|326666|353177", + "text": "Hyperinsulinism, Dominant/Recessive" + }, + { + "baseId": "23717|23898|28830|44907|44922|45013|45024|45028|45062|134685|134725|135320|135321|135322|135323|135324|167553|167554|207839|254105|254106|254108|260011|281440|281448|281466|281475|283468|283470|283487|283606|284160|284163|284164|284170|286078|286435|286436|301722|301723|301731|301737|301739|301740|301741|301753|301755|301757|301762|301763|301764|301774|301783|303948|303950|303951|303954|304936|304937|304938|304942|304943|306342|306348|307485|307487|307497|307498|307499|307637|309560|309561|309562|309563|309570|309571|309580|309581|309590|309591|309592|309685|309687|309705|309707|309738|309742|309746|309748|309758|309759|312503|312521|312557|312598|313386|313632|319828|325611|325626|325998|326005|326665|326666|326978|326979|326982|326983|329687|335448|335486|335509|335512|335513|335524|345258|345295|345298|349979|349993|350002|350003|350004|351012|351014|351015|351017|351019|351023|353805|425758|429380|444135|513905|613078|623485|623492|623543|790136|791984|800974|917106|961106|961107|961108|975843", + "text": "Maturity onset diabetes mellitus in young" + }, + { + "baseId": "23717", + "text": "glibenclamide response - Efficacy" + }, + { + "baseId": "23717", + "text": "gliclazide response - Efficacy" + }, + { + "baseId": "23717", + "text": "glimepiride response - Efficacy" + }, + { + "baseId": "23717", + "text": "glipizide response - Efficacy" + }, + { + "baseId": "23717", + "text": "gliquidone response - Efficacy" + }, + { + "baseId": "23726|337705|347271|347273|347275|351269|351271|351274|352326|352327|352328|352329|352330|352331|410924|417542|417543|470923|471814|571755|575223|620685|649231|786566|891024|891025|891026|891027|891028|891029|891030|891031|891032|891033|891816|891817", + "text": "Cataract, congenital nuclear, autosomal recessive 3" + }, + { + "baseId": "23730|211701|211704|414710|550030|653889|653917|919613", + "text": "Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay" + }, + { + "baseId": "23731|23732|23733|23734|23735|23736|23738|23739|23743|187104|276880|276887|276890|277167|277169|277170|277173|277832|277833|277834|277835|277852|277854|277855|277862|277865|277866|277867|277892|277893|277895|277908|277910|277917|550200|612175|862578|862579|862580|862581|862582|862583|862584|862585|903502|964734", + "text": "Variegate porphyria" + }, + { + "baseId": "23737|23740|23741|23742|23743", + "text": "Variegate porphyria, homozygous" + }, + { + "baseId": "23744|319152|319157|319162|319163|319165|319175|319176|319187|319191|319192|319196|319197|319199|319200|319206|319207|319208|319211|327614|327626|327645|327652|327654|327658|327667|327668|327686|327701|327703|327705|327706|327707|327709|333889|333908|333914|333915|333955|333958|333963|333968|333977|333997|334003|334007|335581|335583|335588|335593|335609|335612|335615|335617|335618|438515|870860|870861|870862|870863|870864|870865|870866|870867|870868|870869|870870|870871|870872|870873|870874|870875|870876|870877|870878|870879|870880|870881|870882|870883|870884|870885|870886|870887|872319", + "text": "Multiple synostoses syndrome 3" + }, + { + "baseId": "23745|28354|28628|29976|38716", + "text": "Insulin resistance, susceptibility to" + }, + { + "baseId": "23746", + "text": "Insulin resistance, severe, digenic" + }, + { + "baseId": "23747", + "text": "Glycemia variation" + }, + { + "baseId": "23748|23749|23750|138069|138070|138072|138073|138075|138077|138079|138080|138081|138082|138083|138084|207415|207416|221630|223359|239903|239904|252337|252339|299918|299920|299921|299922|299926|299928|299933|302569|302571|302575|302588|306947|306958|306960|306962|306963|306982|306986|306987|307217|307223|307226|307227|395115|395252|395253|395255|395259|395263|395267|395457|395461|395715|395729|395735|428630|455563|455569|455571|455576|455709|455719|455725|455731|455737|456143|456146|456154|456386|456388|456396|456398|456401|496868|521628|521629|521930|521934|521936|521975|521977|521991|522303|522305|522307|560702|560704|560706|560808|563545|563547|634870|634871|634872|634873|634874|634875|634876|634877|651552|685194|686837|790621|831869|831870|831871|831872|831873|831874|831875|831876|831877|831878|831879|895853|895854|895855|895856|895857|895858|895859|895860|895861|895862|895863|895864|895865|896232|896233|896234|904102|917888|917889|917892|917893|917897|917898|917900|924344|924345|924346|924347|933306|933307|933308|944992|944993|944994|944995|944996|944997|944998|960581", + "text": "Fanconi anemia, complementation group E" + }, + { + "baseId": "23751|23752|23753|23754|23755|23756|23757|23758|23759|51200|98566|98567|98568|98569|190229|251489|266358|266485|266486|267097|267280|267694|268373|268725|268739|269058|269397|269417|269986|270198|272142|272512|272523|273339|298590|298630|357354|357355|357356|357357|357358|357359|357360|406439|443616|452824|453224|453592|453595|453954|453958|453960|453976|453980|453986|489686|490406|490617|493575|500997|514497|519667|519948|519960|520213|520214|520217|543118|543120|543124|543126|543413|543418|543419|543421|543422|543424|543426|543428|543430|543432|543502|543508|559701|562028|563343|563741|563760|563765|587456|588486|632236|632237|632238|632239|632240|632241|632242|651157|651176|698542|698543|734657|748960|781965|787255|790476|790477|799361|802152|819484|829201|829202|829203|829204|829205|829206|829207|850988|932363|932364|932365|978098", + "text": "Autosomal recessive limb-girdle muscular dystrophy type 2E" + }, + { + "baseId": "23760|23761|23762|23763|23764|23765|23766|79357|213977|213979|249384|276318|276319|276546|276547|277014|277022|277025|277112|277113|277114|277115|277116|277117|277120|353059|353060|417647|439651|447089|447177|556590|558106|558108|626786|626787|626788|626789|690358|696060|761170|818813|822676|822677|822678|822679|822680|822681|862183|862184|862185|862186|862187|862188|862189|862190|862191|862192|862193|862194|862195|864973|921624|930022|964127", + "text": "Cataract 1" + }, + { + "baseId": "23767|23767|23768|23769|23770|23770|23771|23775|23775|23776|23776|98501|98502|98503|98503|98504|141234|186664|186665|186665|186666|186666|186667|186668|186668|190727|190727|191487|192079|194803|199996|199996|199998|199998|199999|200000|200001|200004|237465|237465|285635|285639|285645|285645|285653|286343|286349|286352|286363|286363|286381|286381|288651|288661|288665|288666|288666|288674|288677|288678|289054|289055|289069|289070|289070|289074|289076|289076|289078|289078|289082|289090|289090|357249|357250|357251|357251|357252|357253|357254|357255|357256|357257|357258|357259|357259|357260|357261|357262|357262|357263|357264|367169|367169|421377|421379|443223|443224|443225|443226|450763|486890|486934|486963|493318|495154|499642|499645|499872|499872|500072|500072|518053|518137|541952|541955|541958|541961|541963|541963|541965|541969|541971|541973|541976|541977|541979|541980|542055|542057|542059|542061|542063|542069|542070|542084|542086|542088|542088|542089|542093|542101|542213|542227|542232|542232|542236|542237|542248|557986|557986|558338|561248|629757|629758|629759|629760|629761|629762|629763|629763|650766|650949|676958|691112|691112|691113|691114|695138|733384|733384|733386|733387|733388|733389|747518|747519|747520|763133|763137|763139|763142|763142|774695|774725|774733|781274|781275|781279|781280|781282|819149|821879|826117|826118|826119|826120|826121|851170|851414|858432|884467|884468|884469|884470|884471|884472|884473|884474|884475|884476|884477|884478|884479|884480|884481|884482|887336|922678|922679|922680|931264|940704|942747|942748|953023|953024|960469|971793|971794|971795|971796|971797|971798|971799|971800|971801|971802|971803|971804|972546", + "text": "Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency" + }, + { + "baseId": "23767|285637|286351|286383|288678|288679|288705|289060|289091", + "text": "LCHAD Deficiency" + }, + { + "baseId": "23767|23767|23768|23769|23770|23770|23771|23771|23772|23773|23774|23775|23775|23776|23776|29883|29884|29885|29886|29887|29888|98501|98503|98503|98504|98505|98507|98508|141234|141235|141236|186664|186665|186666|186668|188207|190727|191487|199996|199996|199998|199998|200001|200006|200007|200008|200009|227239|227240|237024|237465|237465|247460|285635|285637|285639|285645|285645|285653|285654|285655|285656|285661|285667|285685|285695|285696|286343|286349|286351|286352|286363|286363|286381|286381|286382|286383|286384|286385|286388|286389|288651|288661|288665|288666|288666|288674|288677|288678|288679|288705|288706|288713|288720|289054|289055|289060|289069|289070|289070|289074|289076|289076|289078|289078|289082|289090|289090|289091|289093|289111|289112|289113|289114|289128|289137|357251|357259|357262|367169|367169|405702|421380|425486|443224|443225|443227|443228|450665|450763|450766|486890|493318|499642|499645|499872|499872|499884|500072|500072|500095|500112|513524|518006|518053|518057|518137|538967|541963|542088|542232|557986|557986|558338|558340|560555|561248|561250|578402|590269|620078|629757|629758|629759|629760|629761|629762|629763|629763|629764|650766|650949|650999|676958|691112|691112|691113|691114|691116|691117|695138|719794|733384|733384|733386|733387|733388|733389|743934|747518|747519|747520|763133|763137|763139|763142|763142|774695|774725|774733|781274|781275|781279|781280|781282|790224|790225|790226|804738|819149|821879|826117|826118|826119|826120|826121|826122|826123|851170|851414|851416|858432|884467|884468|884469|884470|884471|884472|884473|884474|884475|884476|884477|884478|884479|884480|884482|884483|884484|884485|884486|884487|884488|884489|884490|887336|887337|887338|904870|904947|922678|922679|922680|922681|931264|940704|940705|942747|942748|953023|953024|960469|961233|961234|961235|966348|971793|971794|971795|971796|971797|971798|971799|971800|971801|971802|971803|971804", + "text": "Mitochondrial trifunctional protein deficiency" + }, + { + "baseId": "23767|186668|620077", + "text": "HADHA-Related Disorders" + }, + { + "baseId": "23767|23770|98503|98504|186666|186667|186668|199996|199998|200001|237465|280428|289070|289076|366520|442783|443224|558338|609478|627626|629763|650949|691112|691114|695138|733384|733386|733389|747519|761784|761791|763133|763141|774733|781274|781282|821879|977710|977711", + "text": "Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase" + }, + { + "baseId": "23767", + "text": "Lchad deficiency with maternal acute fatty liver of pregnancy" + }, + { + "baseId": "23777|247771|247772|247773|576119|699196|710050|790565", + "text": "Familial adenomatous polyposis 4" + }, + { + "baseId": "23778|23779|250019|250021|250022|250023|250024|250026|281292|281300|281927|281937|283195|283196|283214|283368|427867|448253|448256|448376|516131|516242|557380|557427|628276|628277|628278|628279|732642|732643|732644|743773|762094|777112|778922|787070|790000|790001|824431|824432|824433|824434|922165|922166|922167|922168|922169|930668|942107|952528|952529", + "text": "Severe congenital neutropenia 2, autosomal dominant" + }, + { + "baseId": "23779", + "text": "Neutropenia, nonimmune chronic idiopathic, of adults" + }, + { + "baseId": "23780|59460", + "text": "Advanced sleep phase syndrome, familial, 2" + }, + { + "baseId": 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+ "text": "Paragangliomas 5" + }, + { + "baseId": "23784|152315|170202|221618|226826|233454|233464|239799|239817|247308|247310|247314|358794|395181|395198|395510|434601|455549|455768|474379|474386|563125", + "text": "Dilated cardiomyopathy 1GG" + }, + { + "baseId": "23789|24120|24121|24122|538927", + "text": "Platelet-type bleeding disorder 8" + }, + { + "baseId": "23790|227241|227242", + "text": "Fasting plasma glucose level quantitative trait locus 5" + }, + { + "baseId": "23791|23792|23793|23794|23795|75371|213636|255250|255252|260798|260799|322699|322700|322703|322705|322715|322717|322721|332190|332194|332196|332200|332203|332204|332211|332212|332214|332215|332218|332219|332223|332226|332230|339166|339175|339176|339178|339180|339185|339186|339191|339194|339199|339202|339213|340664|340667|340668|340671|340674|340675|340677|340678|340681|340682|340688|340689|380138|380139|380140|380141|380142|438763|513630|577394|577397|612178|703235|714471|714472|726113|739654|770195|873668|873669|873670|873671|873672|873673|873674|873675|873676|873677|873678|873679|873680|873681|873682|873683|873684|873685|873686|873687|873688|873689|873690|873691|873692|873693|873694|873695|873696|873697|873698|873699|873700|873701|876528|876529|876530|876531|876532|919571|964421", + "text": "Bartter syndrome, type 1, antenatal" + }, + { + "baseId": "23796|327848|327851|327854|327857|327861|327864|337667|337669|337670|337678|337683|337686|337689|337692|337693|337694|337696|337699|343882|343886|343887|343889|343892|343897|343905|343910|343911|343915|343919|345342|345346|345349|345350|345351|345352|345355|345362|345363|374905|375811|375829|409857|409858|433583|466389|467375|467488|467494|467497|467499|530637|530641|530647|530809|530810|530900|530908|531172|568759|570821|570823|570825|570912|570913|574340|574341|584763|614433|614434|645402|645403|645404|645405|645406|645407|645408|645409|645410|645411|645412|645413|645414|645415|645416|645417|645418|645419|645420|645421|645422|645423|645424|645425|645426|645427|645428|704048|715320|740660|740661|771331|771332|815776|815777|815778|815779|820993|844803|844804|844805|844806|844807|844808|844809|844810|844811|844812|844813|844814|844815|844816|844817|844818|844819|844820|844821|844822|844823|844824|844825|844826|844827|844828|844829|857632|877066|877067|877068|877069|877070|877071|877072|877073|877074|877075|877076|877077|877078|877079|877080|877081|877082|877083|880488|880489|880490|928089|928090|937751|937752|937753|937754|949738|949739|949740|949741|949742|949743|949744|949745|949746|949747|958010|958011", + "text": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy" + }, + { + "baseId": "23796|409854|409857|645411|645419|815782", + "text": "T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant" + }, + { + "baseId": "23797|23798|23799|23800|174418|193441|297487|297489|297490|297492|297496|297498|297499|297504|297509|297511|297512|297517|299630|299632|299644|299645|299646|299648|299650|299651|299654|299660|299667|299669|299670|299671|303756|303764|303769|303770|304145|304146|304148|304151|304152|304153|304160|304161|304162|304170|304172|304173|304174|304175|304177|304198|654382|894265|894266|894267|894268|894269|894270|894271|894272|894273|894274|894275|894276|894277|894278|894279|894280|894281|894282|894283|894284|894285|894286|894287|894288|894289|894290|894291|894292|896107|918964|918965", + "text": "Hirschsprung disease 3" + }, + { + "baseId": "23797", + "text": "Pheochromocytoma, modifier of" + }, + { + "baseId": "23802|101244|101245|101246|177925|191918|194429|213603|253915|253916|253917|253919|253920|253921|253922|253923|253924|269507|311682|311689|311693|311696|311707|311708|311713|317261|317262|317267|317268|317273|317276|317288|317289|317290|323308|323311|323312|323313|323317|323318|323319|323326|323327|323330|323331|323335|323880|323890|323892|323893|323894|323911|323919|512922|512923|590299|791016|818284|818285|866560|866561|866562|866563|866564|866565|866566|866567|866568|866569|866570|866571|866572|866573|866574|866575|866576|866577|866578|866579|866580|868535|868536|868537", + "text": "Cone dystrophy 4" + }, + { + "baseId": "23802|23803|23804|23805|23806|23807|23808|23809|23810|23811|23812|23813|23814|480776", + "text": "Achromatopsia 5" + }, + { + "baseId": "23815|23815|23817|23819|23819|23820|44630|53854|53855|53859|53861|53862|53863|53864|53868|140738|175694|175695|175696|175833|198355|198362|212924|214487|222136|224418|230188|241067|241068|241069|241070|313522|313528|372325|372330|374012|398120|398435|398524|398528|408316|415260|444770|460954|460959|461038|461041|461045|461046|461356|461756|497391|503561|510265|510268|511104|526013|526090|526092|526159|526162|526163|526516|526520|564529|564531|564533|564534|564536|567118|567119|639852|639853|639854|639855|639856|687728|752612|768382|820346|838174|838175|838176|838177|838178|838179|838180|838181|838182|838183|838184|838185|852335|926167|926168|935455|947381|947382|947383|947384|947385|956440", + "text": "Dilated cardiomyopathy 1M" + }, + { + "baseId": "23815|23815|23816|23817|23817|23819|23820|23820|44630|53854|53855|53855|53859|53859|53861|53861|53862|53862|53863|53863|53864|53868|140738|140738|140739|175694|175695|175696|175833|175833|175836|187656|198355|198360|198362|212924|214487|222136|224418|230188|241067|241068|241069|241070|313522|313522|313524|313528|313528|313532|319728|319730|319741|319744|319748|325855|325859|325860|325861|325891|326871|372325|372330|374012|398120|398435|398524|398528|408316|415260|444770|460954|460959|461038|461041|461045|461046|461356|461756|497391|503561|510265|510268|511104|526013|526090|526092|526159|526162|526163|526516|526520|564529|564531|564533|564534|564536|567118|567119|639852|639853|639854|639855|639856|687728|752612|768382|820346|838174|838175|838176|838177|838178|838179|838180|838181|838182|838183|838184|838185|852335|867722|867723|867724|867725|867726|867727|868636|920297|926167|926168|935455|947381|947382|947383|947384|947385|956440", + "text": "Familial hypertrophic cardiomyopathy 12" + }, + { + "baseId": "23815|25777|28516|29534|45092|52938|54084|57454|78832|171118|172475|174916|175600|186429|189951|197176|397203|398923|404169|509824|564702|679866|798993|799007|799013|799015|858255|965296|965301|965305|965309", + "text": "Sudden unexplained death" + }, + { + "baseId": 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+ "text": "Ataxia-telangiectasia-like disorder 1" + }, + { + "baseId": "23821|23822|23823|75224|132543|132544|133424|133426|133427|133429|133431|133432|133433|133434|133436|133437|133438|133440|133444|133446|135068|135069|150489|150523|150560|150655|150660|150667|150739|150744|150939|151021|151128|151206|151258|151321|151553|151608|151709|151759|151777|151864|151867|151904|151931|152058|152139|152163|152190|152192|152225|152226|152256|152433|152532|152551|180539|180541|180542|180544|180545|180546|183483|183485|183486|183487|183488|183489|183496|183500|183501|183503|183504|183505|183506|183509|183511|183513|183516|183518|183519|183522|183525|183526|183528|183531|183532|183533|183535|183541|183544|183546|183547|183549|183557|183560|183561|183562|183564|183566|183568|183570|183571|183572|183573|183575|183576|183578|183582|183583|183592|183593|183594|183595|212958|212961|212962|212963|212964|212967|212968|212969|212970|222167|222170|222174|222177|222180|222182|222185|234451|234461|234468|234469|234476|234480|234483|234486|234487|234488|234499|234508|234510|234512|234513|234515|234516|234518|234524|234527|234531|234533|234536|234537|234538|234551|234553|234564|234565|234567|241209|241211|241213|315500|322400|398384|398461|398473|398475|398774|398776|398781|398912|461503|461515|461526|461544|461700|462347|476028|476032|476037|476051|476058|476062|476065|476098|476104|476109|476156|476188|476192|476218|476229|476414|476459|476468|476647|476663|526797|527080|566218|640505|640506|640507|640508|640509|640510|640511|640512|640513|640514|640515|640516|640517|640518|640519|640520|640521|640522|640523|640524|652144|652147|652206|652242|652246|695543|798647|798648|810945|810948|810951|810979|811009|811017|811028|811051|811060|811066|811078|811118|820423|820424|839166|839167|839168|839169|839170|839171|839172|851466|852410|926414|926415|926416|926417|935854|935855|935856|935857|935858|935859|935860|935861|940238|941016|947730|947731|947732|947733|947734|956714|956715|956716|956717|956718", + "text": "Ataxia-telangiectasia-like disorder" + }, + { + "baseId": "23826|23827|23828|23829|137700|314256|314264|314265|314270|314272|314273|314275|320885|326895|326899|326904|326905|326907|326909|326910|326912|327896|327903|327904|685286|701782|868081|868082|868083|868084|868085|868086|868087|868088|868089|868090|868091|868655", + "text": "Xeroderma pigmentosum, group E" + }, + { + "baseId": 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+ "text": "Junctional epidermolysis bullosa gravis of Herlitz" + }, + { + "baseId": "23832|29578|29578|29580|29580|29581|29582|29586|29588|29589|29590|29591|29592|29598|29599|29600|29779|32684|32685|32686|32687|32688|32691|32692|32693|32694|32695|32696|32697|186611|205161|227334|227396|253671|253672|253673|253675|253676|253677|253679|253680|253681|253682|253683|253684|309379|309380|309383|309384|309386|309387|309392|309401|309402|309405|309407|309410|309411|309419|309427|309428|309434|309435|309437|309438|309443|309445|309447|314065|314066|314076|314080|314082|314083|314084|314086|314088|314091|314107|314109|314110|314112|314122|314124|314126|314129|314130|314131|314144|314154|314162|319982|319983|319997|319998|320008|320011|320012|320019|320020|320037|320039|320040|320041|320048|320051|320052|320053|320499|320531|320548|320552|320554|320558|320560|320564|320567|320572|320575|320577|320581|320583|320602|320609|320610|320615|320616|320617|359226|359293|407810|415214|442704|445947|445947|486607|488235|540778|576350|578559|583106|611497|612132|612402|620343|620816|620817|701157|712137|712138|723744|723745|744496|744591|751945|778032|792673|865344|865345|865346|865347|865348|865349|865350|865351|865352|865353|865354|865355|865356|865357|865358|865359|865360|865361|865362|865363|865364|865365|865366|865367|865368|865369|865370|865371|865372|865373|865374|865375|865376|865377|865378|865379|865380|865381|865382|865383|865384|865385|865386|865387|865388|868431|868432|868433|868434|868435|868436|868437|868438|868439|906377", + "text": "Junctional epidermolysis bullosa, non-Herlitz type" + }, + { + "baseId": 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+ "text": "Pulmonary Hypertension, Primary, 1" + }, + { + "baseId": "23835|392288|414244|414318|654767", + "text": "Pulmonary venoocclusive disease 1, autosomal dominant" + }, + { + "baseId": "23851|414114|414309", + "text": "Pulmonary hypertension, primary, dexfenfluramine-associated" + }, + { + "baseId": "23852", + "text": "Pulmonary hypertension, primary, fenfluramine-associated" + }, + { + "baseId": "23853|23854|23855|48021|48022", + "text": "Pulmonary venoocclusive disease 1" + }, + { + "baseId": "23858", + "text": "Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia" + }, + { + "baseId": "23859|23860", + "text": "DIABETES, TYPE II, SUSCEPTIBILITY TO" + }, + { + "baseId": "23862|28948|28955|28956|28957|28958|28968|28970|28972|28975|28990|36242|36249|47217|47233|181495|181497|181498|181499|213770|213771|213772|241250|241251|241252|241253|241254|241255|241256|241257|241258|241259|254453|316315|316322|316323|316325|316326|316329|316331|316332|316333|316337|316338|316343|316345|316347|316351|316352|316358|323748|323749|323751|323752|323757|323772|323781|329860|329865|329868|329874|329875|329876|331108|331114|331118|331119|331123|331127|331128|331135|331138|331142|331144|331155|398494|398500|398504|398508|398513|398516|398519|398542|398547|398548|398550|398551|398554|398555|398560|398561|398563|398570|398574|398863|398866|398873|398879|398888|398979|398983|398987|398996|399004|399005|399007|461653|461656|461659|461665|461666|461676|461677|461868|461872|461874|461877|461891|462228|462229|462232|462241|462244|462245|462251|462255|462261|462263|462265|462267|462269|462277|462279|462485|462490|462493|462495|462496|462500|462502|476247|476248|476251|476276|476487|476495|476758|486074|526717|526718|526720|526723|526724|526730|526737|526741|526745|526749|526958|526961|526963|526967|526969|526970|526974|527275|527282|565102|565111|565112|566407|566408|566414|567696|567700|571143|571302|571304|571312|571318|613900|640671|640672|640673|640674|640675|640676|640677|640678|640679|640680|640681|640682|640683|640684|640685|640686|640687|640688|640689|640690|640691|640692|640693|640694|640695|640696|640697|640698|640699|676949|687921|687922|687923|690023|693156|693157|693158|693159|693160|693161|693162|702218|702219|702220|702221|713432|724983|753199|768941|784299|784301|788864|791202|811122|811123|811124|811130|811135|811137|811143|811146|811150|811151|811153|811162|820454|820455|839382|839383|839384|839385|839386|839387|839388|839389|839390|839391|839392|839393|839394|839395|839396|839397|839398|839399|839400|839401|839402|839403|839404|839405|869525|869526|869527|869528|869529|869530|869531|869532|869533|869534|869535|869536|869537|926484|926485|926486|926487|926488|926489|926490|926491|935938|935939|935940|935941|935942|935943|935944|935945|935946|935947|935948|935949|935950|935951|947810|947811|947812|947813|947814|947815|947816|947817|947818|947819|947820|956766|956767|956768|956769|956770", + "text": "Multiple endocrine neoplasia, type 4" + }, + { + "baseId": "23863|23867|23868|176006|176007|176008|176009|176148|176149|176151|270922|324670|324671|324672|324673|324680|324681|324689|324692|324700|324701|324705|334228|334229|334235|334246|334251|334264|334265|334266|334267|334268|334269|334280|340914|340917|340920|340928|342356|342369|342370|342372|342375|342379|342381|342382|342383|342389|445537|552269|556460|556461|792799|797285|874905|874906|874907|874911|874913|874914|874915|874916|874917|874918|874919|874920|874921|874922|874923|874924|874925|874926", + "text": "Liddle syndrome 2" + }, + { + "baseId": "23864|23865|23866|23867|23868|23871|23883|24302|24303|24304|24305|24306|24308|175749|175889|176006|176007|176008|176009|176011|176012|176013|176014|176148|176149|176151|176154|176156|176157|191353|193465|193466|230335|230337|230338|230632|230633|255672|270922|318243|318246|318248|318249|318254|318256|318260|318268|318271|318273|318280|318282|318283|318284|318285|318287|324670|324671|324672|324673|324680|324681|324689|324692|324693|324700|324701|324705|324718|324720|324721|324723|324726|324727|324730|324735|326232|326237|326241|326243|326249|326253|326259|326263|332506|332508|332511|332523|332532|332536|332540|332543|332548|332550|332551|334108|334117|334121|334122|334123|334124|334131|334139|334143|334146|334150|334151|334153|334155|334228|334229|334235|334246|334251|334264|334265|334266|334267|334268|334269|334280|334300|334301|334307|334317|334318|334319|334320|340914|340917|340920|340928|340948|340950|340954|340958|340959|340960|340968|340972|342356|342369|342370|342372|342375|342379|342381|342382|342383|342387|342389|342413|342420|342424|342427|342429|342436|445537|481263|578502|578503|582711|620454|713693|725223|753541|753543|791270|791271|791559|792799|797285|804853|870271|870272|870273|870274|870275|870276|870277|870278|870279|870280|870281|870282|870283|870284|870285|870286|870287|870288|870289|872282|872283|874905|874906|874907|874911|874913|874914|874915|874916|874917|874918|874919|874920|874921|874922|874923|874924|874925|874926|874936|874937|874938|874939|874940|874941|874942|874943|874944|874945|874946|874947|874948|874949|874950|874951|874952|874953|874954|874955|876643|876644|980348", + "text": "Autosomal recessive pseudohypoaldosteronism type 1" + }, + { + "baseId": "23867|23868|324680|445537|792799", + "text": "Bronchiectasis with or without elevated sweat chloride 3" + }, + { + "baseId": "23869|23870|23871|23872|23873|23874|23875|23876|23883|176011|176012|176013|176014|176154|176156|176157|230632|230633|255672|324693|324718|324720|324721|324723|324726|324727|324730|324735|334300|334301|334307|334317|334318|334319|334320|340948|340950|340954|340958|340959|340960|340968|340972|342387|342413|342420|342424|342427|342429|342436|623386|874936|874937|874938|874939|874940|874941|874942|874943|874944|874945|874946|874947|874948|874949|874950|874951|874952|874953|874954|874955|876643|876644|962176|977274", + "text": "Liddle syndrome 1" + }, + { + "baseId": "23884|23885|23886|23887|23888|23889|23890|23891|23892|32903|32909|46863|46864|103887|178440|189388|189390|249746|249747|249748|249749|249750|249751|249752|249753|279384|279385|279389|279393|279394|279399|279627|279635|279636|279637|279638|279639|279642|280901|280903|280906|280914|280915|280916|281046|281047|281053|281056|281057|281058|281061|440487|447749|514880|515466|515563|515564|515594|556792|558349|627390|627391|627392|683306|683307|690502|690506|696513|718702|746190|823492|863799|863800|863801|863802|863803|863804|863805|863806|863807|863808|863809|863810|863811|863812|863813|921853|952304", + "text": "Alzheimer disease, type 4" + }, + { + "baseId": "23891|103887|178440|189388|189390|249746|249747|249748|249749|249750|249751|249752|249753|279384|279385|279389|279393|279394|279399|279627|279635|279636|279637|279638|279639|279642|280901|280903|280906|280914|280915|280916|281046|281047|281053|281056|281057|281058|281061|440487|515466|515563|690502|690506|718702|746190|863799|863800|863801|863802|863803|863804|863805|863806|863807|863808|863809|863810|863811|863812|863813", + "text": "Dilated cardiomyopathy 1V" + }, + { + "baseId": "23893|23894|353955|353956|353957|463878|463881|527985|528042|528500|567867|572744|642196|642197|642199|642200|642202|642203|642204|970991", + "text": "Specific granule deficiency 1" + }, + { + "baseId": "23895|551781|857650", + "text": "Long QT syndrome 13" + }, + { + "baseId": "23895|23957|23958|23958|23959|23960|23961|23962|23962|23962|23963|23964|23965|23967|39075|39076|39077|39077|39081|45097|45097|78456|78461|78462|78463|78464|78464|78465|78465|78470|78471|78477|78479|78481|78481|78484|78487|78487|78490|141686|141687|141689|141690|141691|141691|171189|171189|188650|188656|188659|188661|188662|188662|188664|188665|188666|188666|188667|204359|204360|222732|224521|224521|224522|259015|259021|259021|265838|269767|329615|329619|329620|329624|329625|329625|329628|329635|329636|329637|329638|329639|329641|329643|329645|329648|329650|329654|329655|329660|329663|329664|329666|329669|329672|329675|329677|339907|339908|339911|339911|339912|339916|339921|339922|339923|339925|339927|339929|339930|339933|339934|339941|345630|345631|345634|345635|345638|345640|345641|345645|345648|345649|345652|345653|345659|345662|345663|345667|345669|345672|345676|345677|345679|345681|345682|346986|346987|346989|346993|347000|347010|347015|347017|347021|347026|347038|347042|347043|375673|376609|376617|376617|376618|378738|402503|402505|402975|403114|403117|403123|439887|442013|445876|467401|467407|467416|468303|468306|468769|468771|468771|468772|469005|469008|507126|510757|510758|532098|569686|569694|571569|625822|625823|625823|626260|646634|646635|646636|646637|646638|646639|646640|646641|646642|646643|672444|672444|677457|688820|688821|688822|694171|694172|694173|694173|694175|740993|771784|846135|846136|846137|846138|846139|878290|878291|878292|878292|878293|878294|878295|878296|878297|878298|878299|878300|878301|878302|878303|878304|878305|878306|878307|878308|878309|878310|878311|878312|878313|878314|878315|878316|878317|878318|878319|878320|878321|878322|878323|878324|878325|919766|928519|928520|928521|938204|938205|941158|950259|950260|958288|958289|967210|969522", + "text": "Andersen Tawil syndrome" + }, + { + "baseId": "23895|39081|97393|139391|139392|139393|141693|141694|141695|141696|141697|141698|186151|212923|313268|313294|313298|313299|313300|313301|313305|313306|313309|313312|313313|313314|319394|319399|319400|319401|319402|319417|319418|319435|319441|319442|319443|325531|325539|325545|325549|325562|325570|325578|325579|326523|326529|326535|326539|326540|326541|326545|326565|326566|326575|326583|326584|326586|684239|867560|867561|867562|867563|867564|867565|867566|867567|867568|867569|867570|867571|867572|867573|867574|867575|867576|867577|867578|867579|919340", + "text": "Familial hyperaldosteronism type 3" + }, + { + "baseId": "23896|23903|23904|33976|39080|39080|429487", + "text": "Pancreatic agenesis 1" + }, + { + "baseId": "23896|23898|23902|33976|33976|39080|45065|45066|45067|45069|45070|45071|45072|45074|45075|45076|45077|135327|429487", + "text": "Maturity-onset diabetes of the young type 4" + }, + { + "baseId": "23905|23906|23907|23908|23911|23912|23913|23914|23915|265457|269321|271728|271980|284771|284778|284789|284790|285429|285440|285441|285452|285463|287653|287655|287670|287672|287684|287685|287686|287907|287921|287922|287941|287943|287949|287963|287965|733174|747307|822332|822333|822336|857347|883778|883779|883780|883781|883782|883783|883784|883785|883786|883787|883788|883789|883790|883791|883792|883793|883794|883795|883796|883797|883798|883799|883800|883801|887276|918030|918739", + "text": "Type A1 brachydactyly" + }, + { + "baseId": "23909|23910|788747|788748", + "text": "Acrocapitofemoral dysplasia" + }, + { + "baseId": "23916|23917|23918|23919|23920|23921|23922|23923|23924|23925|23926|23927|23928|23930|23932|23934|23935|76732|76754|76757|76761|76762|76768|76780|76784|76785|76787|76791|76792|76795|76800|76812|76819|76820|193391|361187|424484|456902|457594|486746|522502|536077|536078|536079|536081|635957|651714|677292|699961|699962|699963|710892|710893|710894|736042|750536|945539|964288|964832|970853|970854|977228", + "text": "Holoprosencephaly 3" + }, + { + "baseId": "23925|23926|24558|24559|24560|24561|39337|39338|39339|490057|918773|919095", + "text": "SCHIZENCEPHALY" + }, + { + "baseId": "23925|23931|653874", + "text": "Microphthalmia, isolated, with coloboma 5" + }, + { + "baseId": "23925|23929|23933|23934|39338|536080", + "text": "Solitary median maxillary central incisor syndrome" + }, + { + "baseId": "23936|23937|99599|99601|177611|191655|193026|206565|237094|255853|325986|326000|326048|335697|335733|335736|342070|343570|354176|431798|486149|799959|799960|799961|905053|905056|919667|919668|971052", + "text": "Retinitis pigmentosa 45" + }, + { + "baseId": "23938|23939|23940|23941|23942|23943|23944|23945|23946|23947|70781|70782|70783|70813|70814|70815|70816|70817|70818|70819|70820|70821|70822|70823|70824|70825|70826|70827|70828|70829|70830|70831|70832|70833|70834|70835|70836|70837|70838|70839|70840|70841|70842|70843|70844|70845|70846|70847|70848|70849|70850|70851|70852|70853|70854|70855|70856|70857|70858|70859|135467|135468|135469|142496|142499|186623|193410|195574|196169|200995|201106|201107|201109|201110|201111|201112|201113|201114|201115|201116|201117|201119|201123|227214|237963|237964|237965|237966|238280|264002|280434|280436|280445|280449|280451|280455|280458|280459|280460|280472|280801|280811|280814|280829|280844|280857|280858|282205|282206|282207|282209|282212|282213|282219|282220|282221|282222|282345|282366|282371|282374|282405|282406|282423|282430|357075|357076|357077|357078|357079|357080|357081|357082|357083|357084|365267|391214|391215|391343|391344|442835|447887|447890|448107|448110|448113|448114|448174|448186|448188|485997|498657|498671|514895|515852|515855|515856|515881|515899|515905|515906|515977|541042|541052|541054|541058|541144|541145|541150|541155|541181|541184|541186|541191|541194|541196|541198|541205|557051|557313|557315|558501|558503|558505|558507|558509|578791|622862|627826|627827|627828|627829|627830|627831|650666|653849|653988|683327|685730|746470|759011|761911|774499|780684|818966|823950|823951|823952|823953|823954|823955|823956|823957|823958|823959|850711|850780|864332|864333|864334|864335|864336|864337|864338|864339|864340|864341|864342|864343|864344|864345|864346|922011|922012|922013|922014|930483|930484|940633|941935|941936|941937|941938|952409|952410|952411|965935|977535|977536|977537|977538", + "text": "Neuronal ceroid lipofuscinosis 1" + }, + { + "baseId": "23943|140827|193688|194825|202608|203812|203814|203815|203817|203818|280429|280430|280812|280826|282370|282413|292242|292244|296979|314712|314713|321380|321392|321432|321436|323238|323239|327543|327555|328606|328626|332905|336299|336301|336304|336307|336310|336312|336318|336320|336322|336324|336325|336328|336329|336335|336336|336345|336348|336351|336357|336358|336368|336369|336371|336372|336378|336379|336383|339799|341232|341236|341237|346019|346022|346023|346027|346031|346032|346034|346035|346039|346045|346049|346051|346057|346063|346066|346068|346083|346085|346091|346092|346093|346098|346102|346115|350380|350381|350384|350385|350388|350389|350392|350393|350396|350397|350400|350401|350404|350405|350407|350408|350413|350414|350419|350420|350423|350424|350427|350428|350430|350431|350434|351417|351418|351421|351424|351425|351427|351430|351431|351434|351435|351438|351439|351442|351443|351446|351447|351450|351451|351454|351455|351457|351460|351461|351464|351465|351467|351470|353327|353328", + "text": "Neuronal Ceroid-Lipofuscinosis, Recessive" + }, + { + "baseId": "23948|23949", + "text": "Diabetes mellitus, insulin-dependent, susceptibility to" + }, + { + "baseId": "23948|31960|31961", + "text": "Hashimoto thyroiditis, susceptibility to" + }, + { + "baseId": "23948", + "text": "Addison disease, susceptibility to" + }, + { + "baseId": "23948|31961", + "text": "chronic fatigue syndrome with infection-triggered onset" + }, + { + "baseId": "23951|139369|192849|202713|274242|372394|408707|429438|571890|614378|677439|677440|798657|857655|861576|983305", + "text": "Cognitive impairment with or without cerebellar ataxia" + }, + { + "baseId": "23952|40534|421846|619826", + "text": "Arthrogryposis, distal, type 2b2" + }, + { + "baseId": "23952|40534", + "text": "Arthyrgryposis, distal, type 2B" + }, + { + "baseId": "23953|23954", + "text": "Erythrocyte lactate transporter defect" + }, + { + "baseId": "23955|23956|135762|170214|249364|249365|275923|275925|275928|275929|275930|275931|275933|276014|276017|276033|276034|276048|276049|276062|276065|276067|276090|276094|276106|276121|276122|276125|276135|276167|276171|276172|276182|276191|276200|276274|276277|276278|276279|276291|276292|276293|276294|276295|276296|276297|276333|276334|276338|427621|731588|789822|815975|861961|861962|861963|861964|861965|861966|861967|861968|861969|861970|861971|861972|861973|861974|861975|861976|861977|861978|861979", + "text": "Exercise-induced hyperinsulinism" + }, + { + "baseId": "23958|23962|23962|23966|39077|39077|45097|45097|78456|78461|78462|78464|78465|78470|78471|78481|78487|78490|141686|141687|141689|141690|141691|141691|171189|188650|188656|188659|188661|188662|188664|188665|188666|188666|188667|224521|224522|259015|259021|265838|269767|329615|329619|329624|329625|329625|329628|329635|329637|329638|329639|329641|329645|329648|329655|329664|329666|329669|329677|339907|339911|339911|339912|339916|339922|339923|339925|339933|339934|339941|345630|345631|345634|345635|345638|345640|345641|345645|345648|345649|345652|345659|345662|345663|345667|345669|345679|345681|345682|346986|346987|346989|346993|347010|347015|347017|347038|347042|347043|375673|376609|376617|376617|376618|378738|402503|402505|402975|403114|403117|442013|445876|467401|467407|467416|468306|468769|468771|468771|468772|469005|469008|507126|510757|510758|532098|569686|569694|571569|625823|646634|646635|646636|646637|646638|646639|646640|646641|646642|646643|672444|677457|688820|688821|688822|694171|694172|694173|694173|694175|740993|771784|846135|846136|846137|846138|846139|878290|878291|878292|878292|878293|878294|878295|878296|878297|878298|878299|878300|878301|878302|878303|878304|878305|878306|878307|878308|878309|878310|878311|878312|878313|878314|878315|878316|878317|878318|878319|878320|878321|878322|878323|878324|878325|928519|928520|928521|938204|938205|941158|950259|950260|958288|958289", + "text": "Short QT syndrome 3" + }, + { + "baseId": "23962|39077|45097|141691|188666|329615|329619|329624|329625|329628|329635|329637|329638|329639|329641|329645|329648|329655|329664|329666|329669|329677|339907|339911|339912|339916|339922|339923|339925|339933|339934|339941|345630|345631|345634|345635|345638|345640|345641|345645|345648|345649|345652|345659|345662|345663|345667|345669|345679|345681|345682|346986|346987|346989|346993|347010|347015|347017|347038|347042|347043|375673|376617|468771|677457|694173|878290|878291|878292|878293|878294|878295|878296|878297|878298|878299|878300|878301|878302|878303|878304|878305|878306|878307|878308|878309|878310|878311|878312|878313|878314|878315|878316|878317|878318|878319|878320|878321|878322|878323|878324|878325", + "text": "Atrial fibrillation, familial, 9" + }, + { + "baseId": "23968|23969|23970|23971|23972|23975|23976|45243|45244|45245|45246|45247|45249|45251|45255|45256|45257|45258|45259|45261|50027|50029|50030|50032|50032|50033|50035|51637|51638|51640|51641|51642|94625|94629|94638|94639|94642|94648|94650|94654|94663|94666|94668|94672|94674|94682|94685|94690|94691|94692|94698|94705|94707|94713|94719|94723|94725|94730|94731|94733|94738|94743|94753|94754|94755|94760|94762|94763|94763|94765|94779|94786|94786|94788|94804|94805|94807|94808|94812|94815|94816|94816|94820|94826|94826|94831|94833|94834|94836|94838|94842|94843|94843|94844|94858|94863|94865|94874|94876|94878|94883|94889|94890|94891|94892|94898|94898|94902|94917|94919|94931|94935|94938|94946|94947|94948|94949|94950|94951|94953|94958|94962|94964|94968|94970|94971|94973|94974|94976|94980|94981|94982|94983|94985|94996|95000|95001|95004|95008|95014|95025|95026|95034|95036|95036|95038|95046|95047|133011|133019|133020|133021|133022|133023|133026|133027|133027|133028|133029|133031|133032|133033|133039|133042|133043|133045|133046|133048|133050|133050|133051|133052|133061|138590|138590|138591|138592|138594|138595|139541|139542|139544|139547|139551|139553|139555|141959|141961|141965|150493|150494|150550|150580|150606|150675|150772|150799|150836|150902|150964|150979|151010|151013|151013|151041|151042|151060|151078|151189|151239|151465|151599|151895|151946|152019|152140|152204|152209|152210|152222|152239|152277|152377|152386|152389|152487|152611|152675|166272|180038|180039|180040|180045|180051|180053|180054|180056|180062|180066|180067|180069|180074|180076|180077|180078|180079|180080|180081|180082|180084|180085|180088|180092|180096|180098|180100|180101|180103|180104|181201|181202|181998|181998|182008|182018|182020|182022|182025|182045|182055|182066|182075|182079|182080|182082|182084|182088|182095|182099|182101|182104|182109|182115|182124|182126|182129|182130|182130|182133|182134|182135|182138|182142|182143|182144|182147|182152|182159|182162|182163|182177|182178|182183|182192|182194|185989|185997|186000|186005|198614|212211|212212|212214|212220|212221|212222|212225|212239|212242|212245|212264|212265|215258|221251|221251|221252|221252|221253|221254|221255|221256|221257|221259|221260|221264|221269|221277|221282|221286|221295|221297|221298|221302|221304|221306|221307|221314|226304|226308|231527|231547|231549|231582|231594|232657|232667|232679|232683|232698|232700|232732|232804|232818|232837|232857|238882|238889|238893|238901|238907|238914|238938|238939|238942|238944|286680|286681|287402|289831|290190|290191|290207|358718|358719|358720|358721|358722|358723|358724|358725|358726|358727|358728|366518|366559|366695|392813|392820|392893|392937|392964|392976|393001|393009|393148|393184|393290|393318|393336|393386|405875|405879|405879|405897|405897|405900|405927|405966|405967|419483|419524|432523|451404|451445|451503|451609|451676|473109|473228|473386|480462|480463|483414|483472|488078|518537|518546|518578|537734|539213|539214|539215|539216|539217|539218|539219|539220|539221|539222|539224|539225|539226|539227|539228|539229|558231|575677|575678|575684|616731|630279|630283|682672|763303|790265|790266|790267|790268|790269|790270|790271|790272|790273|790274|790275|790276|790277|790278|790279|790280|790281|807331|885121|885122|885123|885124|922859|967147|970057|970745|974938", + "text": "Hereditary nonpolyposis colorectal cancer type 5" + }, + { + "baseId": "23970|95014", + "text": "Colorectal / endometrial cancer" + }, + { + "baseId": "23983", + "text": "Cutaneous malignant melanoma 6" + }, + { + "baseId": "23985|799597", + "text": "Cocoon syndrome" + }, + { + "baseId": "23986|48699|48700|48701|48702|99963|141906|168540|168541|168543|194368|195642|201906|201910|201919|205746|207288|215010|225866|300680|368274|368590|425650|432211|454426|455075|455087|455740|455745|455748|455995|455997|481413|521266|560500|560502|563254|563256|589802|611389|634465|634466|634467|672063|672064|686769|749644|782384|815982|819631|819632|821924|831248|831249|831250|920214|924189|924190|924191|924192|924193|924194|933063|933064|933065|940828|944769|962879|964118|964262|964263|970815|970816", + "text": "Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations" + }, + { + "baseId": "23987", + "text": "Coronary artery disease, autosomal dominant, 1" + }, + { + "baseId": "23988|23989|23990", + "text": "Coronary artery disease/myocardial infarction" + }, + { + "baseId": "23991|23992|23992|23992|23993|23993|23994|23995|23996|23997|23997|23997|23998|24003|24007|24007|39073|98339|98342|98342|136314|140731|177194|177327|186625|186626|186627|186627|199958|199958|199960|357113|357114|357115|357116|357117|357118|357119|357120|357121|357122|357123|357123|357124|357125|357126|357127|359268|361851|361852|363677|363677|440518|440518|448103|448103|486906|516115|516120|516124|541187|541188|541190|541192|541199|541201|541203|541204|541207|541211|541213|541214|541215|541217|541220|541223|541226|541231|541233|541302|541304|541306|541308|541309|541310|541311|541313|541315|541316|541317|541318|541319|541320|541321|541322|541323|541332|612257|621084|788739|906231", + "text": "Carnitine palmitoyltransferase II deficiency, infantile" + }, + { + "baseId": "23991|23992|23993|23995|23996|23997|23998|23999|24003|24007|39073|39074|98339|98341|98342|136310|136311|136312|136313|136314|136315|136316|136317|140731|177194|177327|186627|194265|194269|199957|199958|199960|199962|199963|199964|199965|199966|271720|272043|274820|280790|280792|280802|280803|280806|280807|280808|280815|281312|281317|281319|282577|282578|282587|282588|282868|282870|282871|282877|282878|282879|353104|353105|357116|357121|359268|361851|363677|365299|365415|421251|421253|440515|440517|440518|442867|446933|448098|448100|448103|448108|448194|448196|448203|448207|448210|448239|448240|448241|448361|448371|486906|498519|498522|498730|498734|513901|515979|516005|516010|516021|516024|516042|516043|516045|516115|516117|516120|516124|516129|516132|541199|541321|541323|557099|557101|557103|557105|557320|557322|557324|557326|557375|557377|557379|557381|557383|558553|558555|558557|621084|626111|628143|628144|628145|628146|628147|628148|628149|628150|628151|628152|628153|628154|628155|628156|628157|628158|628159|628160|628161|655113|690641|690642|690643|690644|690645|696792|696793|696795|696796|707453|719013|732504|732505|732506|732507|746556|746559|746560|746561|762008|762012|780731|818982|818983|818984|821842|824231|824232|824233|824234|824235|824236|824237|824238|824239|824240|824241|824242|824243|824244|824245|824246|824247|824248|824249|824250|824251|850804|851315|858398|864582|864583|864584|864585|864586|864587|864588|864589|864590|864591|865194|922115|922116|922117|922118|930596|930597|930598|930599|930600|930601|930602|930603|942029|942030|942031|942032|942033|942034|942035|942036|952464|952465|952466|952467|952468|952469|952470|952471|952472|960433|977549", + "text": "Carnitine palmitoyltransferase II deficiency" + }, + { + "baseId": "23991|23992|23992|23993|23993|23994|23995|23997|23997|23998|24005|24006|24007|24007|186627|199958|357113|357114|357115|357116|357117|357118|357119|357120|357121|357122|357123|357123|357124|357125|357126|357127|363677|440518|448103|516115|516120|516124|541207|608939", + "text": "Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced" + }, + { + "baseId": "23992|23992|23992|23993|23997|23997|23997|23998|24000|24001|24002|24003|24004|24007|24007|39073|98342|186627|199958|199958|357113|357114|357115|357116|357117|357118|357119|357120|357121|357122|357123|357123|357124|357125|357126|357127|363677|440518|448103|513901|516115|516120|516124|621084|818384|818385|906342|962668|962669", + "text": "Carnitine palmitoyltransferase II deficiency, lethal neonatal" + }, + { + "baseId": "23992|23993|23997|24007|186627|357123|363677|440518|448103|516115|516120|516124|964158", + "text": "Encephalopathy, acute, infection-induced, 4, susceptibility to" + }, + { + "baseId": "23997|45840|263356|801166", + "text": "Abnormality of the nervous system" + }, + { + "baseId": "24008|24009|24010|215426|712647|724249|724251|724252|724253|737806|744596|752482|752483|752484|760038|768262|787624|791116|867219|867220|867221|867222|867223|867224|867225|867226|867227|867228|867229|867230|867231|867232|867233|867234|867235|867236|867237|867238|867239|867240|867241|867242|867243|867244|867245|867246|867247|867248|867249|867250|867251|867252|867253|867254|867255|867256|867257|867258|867259|867260|867261|867262|867263|867264|867265|867266|867267|867268|867269|867270|867271|867272|867273|867274|867275|867276|867277|867278|867279|867280|867281|867282|867283|867284|867285|867286|867287|867288|867289|867290|867291|867292|867293|867294|867295|867296|867297|867298|867299|867300|867301|867302|867303|867304|867305|867306|867307|867308|867309|867310|867311|867312|867313|867314|867315|867316|867317|867318|867319|867320|867321|867322|867323|867324|867325|867326|867327|867328|867329|867330|867331|867332|867333|867334|867335|867336|867337|867338|867339|867340|867341|867342|867343|867344|867345|867346|867347", + "text": "Cleft lip/palate-ectodermal dysplasia syndrome" + }, + { + "baseId": "24008", + "text": "Orofacial cleft 7" + }, + { + "baseId": "24011|24012|24013|24014|24017|24018|24019|204977|320483|320485|320487|320501|320502|320505|320509|320510|320514|329261|329267|329270|329287|329288|329289|329293|335865|335867|335868|335869|335875|337793|337796|337814|337820|337824|337827|486614|623390|677446|684482|798675|871845|871846|871847|871848|871849|871850|973054", + "text": "Benign hereditary chorea" + }, + { + "baseId": "24015|24016|24017|24018|24020|24021|204977|214542|320483|320485|320487|320501|320502|320505|320509|320510|320514|329261|329267|329270|329287|329288|329289|329293|335865|335867|335868|335869|335875|337793|337796|337814|337820|337824|337827|429557|552175|623380|623381|623390|625814|677056|677446|684480|684482|791400|791401|791402|791403|871845|871846|871847|871848|871849|871850|921217|980949", + "text": "Choreoathetosis, hypothyroidism, and neonatal respiratory distress" + }, + { + "baseId": "24023|24024|27386|27395|27405|27407|27619|27621|27622|27624|27629|27641|27642|27645|27646|27650|27652|28891|28899|28938|28939|28940|29037|29038|29039|29040|29701|29702|29755|31310|31311|31312|31313|31315|31316|32605|32606|32607|32608|32609|32610|32611|34248|34249|34250|34251|34253|34254|34255|34256|38664|38666|40042|44227|46608|48247|48930|48938|48939|48940|49881|52763|54284|83949|102731|133272|133276|137624|150515|151595|152686|166215|168180|168243|171613|171928|172332|175540|175854|179419|185345|185366|185367|185371|185394|191835|204470|204470|204572|207154|207165|207209|208566|213398|213402|216786|216787|236461|236469|236481|239104|239444|239474|239498|242980|243319|243320|243321|243322|243323|243324|243325|243326|243327|243328|243329|243608|256853|260192|263939|359197|362750|362753|362755|362758|362759|362760|362761|362762|362763|362768|362769|362770|362771|362772|362805|362810|362811|362848|362849|362850|362851|362852|362864|362865|362866|362867|362868|362883|362884|362885|362886|362887|362888|362889|362890|362891|362892|362893|362894|362895|362896|362897|362898|362899|362900|362901|362902|362903|362904|362905|362909|362912|362919|362920|362921|362922|362923|362924|362925|362981|362982|362983|362984|362985|362986|362987|362988|362989|362990|362991|363201|363205|363207|363317|363318|363321|363322|363323|363390|363412|363443|363444|363445|363446|363447|363448|363449|363450|363451|363452|363469|363470|363471|363472|363485|363486|363487|363488|363489|363490|363491|363492|363493|363496|363497|363498|363499|363531|363534|363535|363536|363537|363539|363540|363541|363545|363546|363594|363595|363596|363597|363598|363599|363600|363601|363602|363603|363617|363627|393498|393500|393746|394098|394222|394336|394339|403216|403224|403232|403234|403235|403240|403262|403263|403264|403269|403272|403280|403283|403668|403674|403676|403679|403680|403681|403690|403708|403711|403715|403717|403720|403731|428133|430172|430173|430175|430176|430381|430419|450922|452262|453508|453809|453899|454710|455687|468607|468608|468613|468614|468616|468623|468629|468630|469539|469543|469546|469553|469556|469572|469582|469599|469601|469603|469613|469615|469616|470006|470010|470014|470016|470020|470026|470029|470031|470036|470037|470039|470041|470043|470596|470601|470603|470605|470607|470611|470617|471620|473438|521082|521439|521559|532833|532837|532838|532839|532841|532842|532851|532854|532856|532863|532872|532874|532876|532881|532882|532884|532886|532888|532890|532905|532907|532912|532915|532916|533260|533261|533274|533276|533286|533291|563999|570642|570643|570654|570659|570666|572325|572326|572330|572342|572345|573004|573007|573010|573014|573021|573022|573028|573030|573031|574929|574930|574931|574932|574933|574934|574935|574936|576133|576159|611383|611384|611388|611999|612003|612004|612025|613514|614370|614458|620938|647896|647897|647898|647899|647900|647901|647902|647903|647904|647905|647906|647907|647908|647909|647910|647911|647912|647913|647914|647915|647916|647917|647918|647919|647920|647921|647922|647923|647924|647925|647926|647927|647928|647929|647930|647931|647932|647933|647934|652948|688982|688983|688985|688986|688987|688988|688989|688991|688994|694367|694368|694369|694370|694371|694372|694373|694374|704908|704909|704910|716362|741769|756896|756897|756900|772572|772573|772576|786130|801064|847492|847493|847494|847495|847496|847497|847498|847499|847500|847501|847502|847503|847504|847505|847506|847507|847508|847509|847510|847511|847512|847513|847514|847515|847516|847517|847518|847519|847520|847521|847522|847523|847524|847525|847526|847527|847528|847529|847530|847531|905008|919670|928913|928914|928915|928916|928917|928918|928919|928920|928921|928922|928923|928924|928925|928926|928927|938631|938632|938633|938634|938635|938636|938637|938638|938639|938640|938641|938642|938643|950740|950741|950742|950743|950744|950745|950746|950747|950748|953331|958593|958594|958595|958596|962185|966328|966330|966335|983837", + "text": "Acute myeloid leukemia" + }, + { + "baseId": "24026|24027|24028|24029|24030|24031|24032|24034|24035|24036|44226|45443|305147|305163|305171|305173|305174|305176|305178|305179|305181|305189|305191|308906|308937|308947|308948|314123|314140|314147|314150|314153|314155|314156|314157|314167|314171|357632|441232|544411|544413|544414|544416|544418|544420|544709|544714|544721|544722|544724|544739|544761|544762|544764|544771|544778|544780|544803|544805|544809|544814|577060|620299|637195|700584|723078|723079|736640|744360|766798|766799|899435|899436|899437|899438|899439|899440|899441|899442|899443|899444|899445|899446|899447|899448|899449|899450|899451|899452|899453|899454|899455|899456|899457|900482|900483|900484|978470", + "text": "Cholesterol monooxygenase (side-chain cleaving) deficiency" + }, + { + "baseId": "24038|24039|24040|24041|33486|48576|48577|48578|71504|71505|106658|106659|247752|509056|791895|919821", + "text": "BLOOD GROUP--LUTHERAN INHIBITOR" + }, + { + "baseId": "24042", + "text": "HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, KLF1-RELATED" + }, + { + "baseId": "24043|24044|24045|24047|24048|24050|24051|24052|24053|24054|24055|24056|24057|39067|39068|39070|45318|45319|45320|142228|165957|165958|165959|165960|168105|168106|188421|188423|188426|188427|188428|207174|239513|239785|239786|244012|248630|251845|267964|368552|369770|394846|395125|395128|395137|395449|395449|454836|454838|454839|454950|455433|455674|455675|455681|509755|509756|509758|509759|509760|509762|511588|513956|521075|521307|521309|521311|521315|521319|521427|521431|521550|521558|559837|560382|560384|563059|563061|565017|565019|633754|633755|633756|633757|633758|633759|651419|679965|749426|765029|765030|765031|819573|819574|830659|830660|830661|830662|830663|830664|830665|830666|830667|830668|830669|830670|830671|924000|924001|932848|932849|932850|932851|932852|932853|932854|932855|944543", + "text": "Atrial septal defect 7 with or without atrioventricular conduction defects" + }, + { + "baseId": "24047|24057|24058", + "text": "Hypothyroidism, congenital, nongoitrous, 5" + }, + { + "baseId": "24047", + "text": "Interrupted aortic arch" + }, + { + "baseId": "24047", + "text": "Truncus arteriosus" + }, + { + "baseId": "24047", + "text": "Hypoplastic left heart syndrome 2" + }, + { + "baseId": "24047|24048|143220|143221|171115|217183|217184|217185|217186|217187|217188|217247|217248|217249|217250|217251|217252|217253|217254|361695|361696|426523|426524|426525|426526|426527|426528|426529|426530|426531|426532|426533|426534", + "text": "Congenital heart disease" + }, + { + "baseId": "24053|24059", + "text": "Atrioventricular septal defect, somatic" + }, + { + "baseId": "24060|24061|24062|24063|24064|24065|24066|24067|24068|190536|195372|264501|264513|266822|307559|307562|307571|307572|307573|307574|307576|307577|311792|311793|311796|311798|311805|311809|311810|311823|311824|311832|311835|317388|317389|317393|317394|317396|317408|317860|317862|317863|317872|317873|444422|502756|502885|583104|723452|767274|767276|775535|901490|901491|901492|901493|901494|901495|901496|901497|901498|901499|901500|901501|901502|901503|901504|901505|901506|901507|901508|901509|901510|901511|901512|901513|901514|901515|901516", + "text": "Non-acquired combined pituitary hormone deficiency with spine abnormalities" + }, + { + "baseId": "24069|24070|24071|24072|24073|39053|39058|39063|39064|53503|457788|536163|858639|920249", + "text": "Atrial septal defect 2" + }, + { + "baseId": "24073|360984", + "text": "Tricuspid regurgitation" + }, + { + "baseId": "24073|48909|49142|181461|188524|485762|980660", + "text": "Pulmonic stenosis (disease)" + }, + { + "baseId": "24073", + "text": "Pulmonary valve atresia" + }, + { + "baseId": "24073|39054|39055|39058|39058|39063|53500|53502|53503|174532|221750|240222|240223|240224|240225|240226|240227|240228|258522|364058|395870|395874|395879|395882|395885|396124|396130|396131|396134|396261|396266|396273|396274|396275|396548|421649|457121|457150|457160|457163|457170|457746|457748|457753|457776|457777|457784|457787|457788|457788|457791|457794|457797|458150|458158|458160|458163|458165|509989|509991|522966|523164|523221|523224|523236|523251|523434|523445|523446|523588|523593|536163|561900|561904|561906|562338|564580|564582|564584|564591|567329|636544|636545|636546|636547|636548|636549|636550|636551|636552|636553|636554|636555|636556|636557|636558|636559|651839|683967|683970|683971|687170|687171|689898|689899|692341|700360|722808|819936|819937|819938|834044|834045|834046|834047|834048|834049|834050|834051|834052|834053|834054|834055|834056|834057|834058|834059|834060|834061|834062|834063|834064|834065|834066|852110|924983|924984|924985|924986|924987|934066|934067|934068|934069|934070|945824|945825|945826|955275|955276|955277|955278|955279|955280", + "text": "Atrioventricular septal defect 4" + }, + { + "baseId": "24074|24077", + "text": "Epilepsy, juvenile myoclonic 8" + }, + { + "baseId": "24074|24075|24076|24077|24077|24078|106501|106502|106503|106504|214419|214420|214421|214422|214423|214424|214425|214426|214427|214428|214429|214430|214431|214432|214433|214434|214435|214436|214437|214438|214439|214440|214441|214442|214443|214444|214445|214446|214447|214448|801547", + "text": "Leukoencephalopathy with ataxia" + }, + { + "baseId": "24075|24077|24077|24078|214448|589827", + "text": "Epilepsy with grand mal seizures on awakening" + }, + { + "baseId": "24076", + "text": "Epilepsy, juvenile absence 2" + }, + { + "baseId": "24077|414926|434792|434793|434794|434795|434796|550235|550239", + "text": "Hyperaldosteronism, familial, type II" + }, + { + "baseId": 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+ "text": "Pitt-Hopkins-like syndrome 2" + }, + { + "baseId": "24082|24085|24086|39038|39039|39040|153737|165689|165690|170197|246906|246906|283683|283685|283690|283692|283696|283702|283703|283703|283706|283706|283707|283707|283708|283708|284355|284356|284358|284361|284370|284378|284378|284382|284382|284383|284385|284386|286348|286350|286354|286356|286358|286359|286359|286360|286362|286366|286368|286368|286371|286372|286372|286373|286373|286374|286374|286378|286379|286380|286703|286705|286708|286711|286712|286714|286714|286717|286717|286719|286719|286724|286729|286729|286732|286732|286734|286734|286741|286742|286750|286751|286752|405526|414861|450165|450165|450340|450469|517473|517475|517560|517561|517596|517597|517597|517751|517762|557800|557802|559021|559510|559512|620045|629241|629242|629243|629244|629245|629246|629247|629248|629249|629250|629251|650934|650935|719485|743858|743869|762743|778989|781101|815887|819094|825519|825520|825521|825522|825523|825524|825525|825526|825527|825528|825529|825530|825531|825532|825533|825534|850870|883090|883091|883092|883093|883094|883095|883096|883097|883098|883099|883100|883101|883102|883103|883104|883105|883106|883107|883108|883109|883110|883111|883112|883113|883114|883115|883116|883117|883118|883119|883120|887226|887227|922499|922500|922501|931065|942534|942535|942536|952869|952870|952871|952872|952873|959617|960460", + "text": "Immunodeficiency 31a" + }, + { + "baseId": "24083|24084|24087|39037|39038|39039|39040|153737|170197|246906|269730|283703|283706|283707|283708|284378|284382|286359|286368|286372|286372|286373|286374|286714|286717|286719|286729|286732|286734|405526|414861|414861|450165|450340|450469|517473|517475|517560|517561|517596|517597|517751|517762|557800|557802|559021|559510|559512|629241|629242|629243|629244|629245|629246|629247|629248|629249|629250|629251|650934|650935|743858|743869|762743|778989|781101|790141|815887|819094|825519|825520|825521|825522|825523|825524|825525|825526|825527|825528|825529|825530|825531|825532|825533|825534|850870|918724|922499|922500|922501|931065|942534|942535|942536|952869|952870|952871|952872|952873|959617|960460", + "text": "Mycobacterial and viral infections, susceptibility to, autosomal recessive" + }, + { + "baseId": "24088|24089|24090|99934|99935|99936|99938|99940|99941|99942|99943|99944|99949|134737|134738|134739|134740|134741|134742|134743|172245|190387|190801|191207|191208|191209|191368|191894|194900|195308|195639|196234|207981|207982|226475|247082|254625|254627|254629|254630|254631|268241|270576|271650|271654|272143|317998|318002|318003|318016|325918|325926|332158|333611|333612|333649|333652|360105|372450|373162|373384|375337|408717|426004|426006|429442|429443|445055|461788|462329|462334|462339|462586|462591|462597|462599|462604|462605|462612|462613|462617|463070|463073|463075|463192|463197|463201|463204|463206|490984|504972|513579|527260|527270|527272|527274|527276|527280|527284|527285|527289|527290|527515|527517|527521|527523|527526|527527|527531|527537|527548|527549|527550|527793|527797|527807|527809|527811|527812|527815|565607|565608|565614|565619|565620|565624|565626|566917|566931|566932|566948|566950|566951|566956|566959|566960|568122|568126|568129|568131|568133|571910|571920|571924|571930|571933|578501|620447|626218|641258|641259|641260|641261|641262|641263|641264|641265|641266|641267|641268|641269|641270|641271|641272|641273|641274|641275|641276|641277|641278|652252|652713|672088|688031|693240|693241|693244|693245|695573|695575|713630|760023|769218|776071|778026|778223|784430|784431|820508|840080|840081|840082|840083|840084|840085|840086|840087|840088|840089|840090|840091|840092|840093|840094|840095|840096|840097|840098|840099|840100|840101|840102|840103|840104|840105|852493|926678|926679|926680|926681|936179|936180|936181|936182|936183|936184|936185|936186|936187|936188|940270|940271|940272|948089|948090|948091|948092|948093|948094|948095|948096|948097|948098|948099|956902|956903|956904|960047|960048|961306", + "text": "Muscular dystrophy, congenital, due to integrin alpha-7 deficiency" + }, + { + "baseId": "24093|24598|24610|24618|33220", + "text": "Parkinson disease, mitochondrial" + }, + { + "baseId": "24093|135149|264825|608862", + "text": "Mitochondrial complex 1 deficiency, nuclear type 7" + }, + { + "baseId": "24095|24096|24097|24098|24099|24628|39034|39035|39036|133969|140175|140176|140177|204412|211400|211402|211404|211406|211407|211408|253581|308856|313494|313499|319282|319291|319293|319298|319923|373084|438413|503456|524673|524908|525195|525198|538409|538410|611362|638393|652055|767501|767502|820168|836280|836281|836282|902461|902462|902463|902464|902465|903441|903442|925634|934826|934827|940157|946680|955899|961798", + "text": "3-Methylglutaconic aciduria type 1" + }, + { + "baseId": "24100|24101|24102|24103|24104|24105|24106|24107|24108|24109|24110|76436|76547|76548|76549|76550|76551|76552|76553|76554|76555|76556|76557|76559|76560|76561|76562|76563|76564|76565|76566|76567|76569|76570|99873|99874|99880|140730|186839|191998|200218|200219|200220|200221|267167|268011|271352|271750|358051|358052|358053|358054|358055|358056|358057|358058|358059|358060|358061|358062|358063|358064|371654|372369|372371|372374|372375|372388|372616|374261|374262|374266|433458|461435|461592|461594|461935|462260|503413|503748|503753|503987|504343|504352|504358|526994|526997|546287|546289|546297|546298|546300|546302|546534|546536|546538|546671|546672|546676|546929|546933|546942|546945|546947|546949|564873|564875|566120|609810|623178|640392|640393|640394|640395|640396|693102|693103|693104|693105|693106|695540|701949|701951|713110|738244|738246|738247|752925|752926|752927|768709|768711|768712|768714|768715|768716|768717|768718|768720|784161|784162|791166|838923|838924|838925|838926|838927|838928|838929|838930|838931|838932|851913|919388|919389|919390|935757|935758|935759|940235|941013|947640|947641|956640|956641|956642|956643|956644|956645|956646|956647|956648|956649", + "text": "Carnitine palmitoyltransferase 1A deficiency" + }, + { + "baseId": "24111|24112|423255|423257|788912", + "text": "Tricho-dento-osseous syndrome" + }, + { + "baseId": "24112|190465|193568|256264|256265|274094|274987|329075|329080|329082|329084|329085|329087|329089|329093|329097|339182|339188|339190|339197|339200|339203|339205|339209|339212|339220|339227|339229|345103|345108|345121|345123|345124|346471|346474|346477|346485|346487|346489|346494|361021|423255|423257|877887|877888|877889|877890|877891|877892|877893|877894|877895|877896|877897|877898|877899|877900|877901|877902|877903|877904|877905|877906|877907|877908|877909|877910|880546", + "text": "Amelogenesis imperfecta, type IV" + }, + { + "baseId": "24113|24114|24115|24116|24117|317568|317569|317570|317578|317582|317585|317588|317589|317590|317600|317602|325394|325395|325396|325400|325401|325404|325407|325414|325415|325416|325426|325437|325438|325439|325445|325455|325456|331638|331654|331663|331667|331670|331671|331673|331678|331680|331681|331682|331691|333137|333138|333144|333148|333150|333156|333157|333164|333165|333169|333172|333175|333177|353247|353248|626216|769181|788868|870035|870036|870037|870038|870039|870040|870041|870042|870043|870044|870045|870046|870047|870048|870049|870050|870051|870052|870053|870054|870055|870056|870057|870058|870059|872253|872254|872255|872256|872257", + "text": "Anemia, hypochromic microcytic, with iron overload 1" + }, + { + "baseId": "24118|24119|613440|613441|798461", + "text": "Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder" + }, + { + "baseId": 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+ "text": "Norman-Roberts syndrome" + }, + { + "baseId": 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+ "text": "Hyperinsulinemic hypoglycemia, familial, 1" + }, + { + "baseId": "24125|24127|44268|44281|45007|45009|45011|45014|45015|45016|45017|45021|45022|45023|134684|134686|167531|167544|186812|186814|194041|208662|208663|214504|237314|335452|335454|335461|335462|335465|335467|335470|335479|335495|335497|335506|335507|335519|335521|335523|345257|345263|345264|345266|345268|345270|345275|345281|345285|345287|345289|345293|345301|345302|345305|345307|349981|349986|349987|349989|349990|349992|349994|349995|349999|350000|350006|350009|350985|350987|350988|350991|350992|350995|350998|350999|351002|351003|351004|351007|351010|351021|351024|357938|357940|357944|486284|487472|487507|507169|507770|546191|546251|578489|578490|620658|621346|621347|621349|621807|760954|886111|886112|886113|886114|886115|886116|886117|886118|886119|886120|886121|886122|886123|886124|886125|886126|886127|886128|886129|886130|886131|886132|886133|886134|886135|886136|886137|886138|886139|886140|886141|886142|886143|886144|886145|886146|887460|959982|983968", + "text": "Familial hyperinsulinism" + }, + { + "baseId": "24127|24144|24145|44267|44269|44273|44276|44278|44282|167529|167532|167533|167534|167535|167536|167537|167539|167540|167543|167545|167550|167551|167553|167554|167555|186812|186816|186819|192808|207846|207850|207852|207853|207853|207854|227344|254064|254068|254069|313388|313389|313393|313399|313403|313405|313413|313414|313416|313419|313421|319492|319496|319498|319499|319504|319505|319511|319514|319516|319517|319522|319523|319524|319528|325627|325629|325632|325633|325634|325635|325636|325642|325643|325644|325650|325651|326668|326673|326677|326678|326698|326700|326703|380248|380249|429199|429208|429208|441402|441408|487507|545867|546326|546501|577180|620396|692972|768328|783925|783933|867614|867615|867616|867617|867618|867619|867620|867621|867622|867623|867624|867625|867626|867627|867628|867629|867630|867631|867632|867633|867634|867635|868624|868625|868626|868627|868628|868629", + "text": "Transient neonatal diabetes mellitus 2" + }, + { + "baseId": "24127|44273|44277|44281|44284|44289|167532|167533|167534|167535|167536|167537|167539|167544|167545|167546|167547|167550|167554|186812|186816|186819|192808|194041|207847|207849|207850|207852|207853|227344|254064|254068|269612|319498|319522|325635|325650|326700|357942|357951|372093|380248|429204|429208|441404|441409|441413|441415|441417|621346|621348|621807|692971|692972|695500|701679|701680|737887|752576|752577|752585|752586|768323|768325|768326|768329|768330|768342|768343|768346|783929|787726|793383|867618|867625|868625|978892|978893|978894|978895|978896|978897|978898|978899|978900|978901|978902|978903|978904|978905|978906|978907|978908|978909|978910|978911|978912|978913|978914|978915|978916|978917|978918|978919|978920|978921|978922|978923|978924|978925|978926|978927|978928|978929|978930|978931|978932|978933|978934|978935|978936|978937|978938|978939|978940|978941|978942|978943|978944|978945|978947|978948|978949", + "text": "Hereditary hyperinsulinism" + }, + { + "baseId": "24137|44278|44282|186816|207853|429199|429208|487507|546326|964358", + "text": "Leucine-induced hypoglycemia" + }, + { + "baseId": "24141|24142|24143|24146|24147|24148|24149|24150|44281", + "text": "Permanent neonatal diabetes mellitus 3" + }, + { + "baseId": "24151|24151|24152|24153|24153|24154|24155|24156|24157|24157|24158|24159|89550|141271|141271|171902|171902|171903|171903|191017|191367|191367|191531|191532|191533|191657|191657|191658|191658|192323|195304|195305|195306|195306|195307|195938|195938|200699|214088|214088|214089|214089|214090|214090|215437|215437|230227|231804|231804|231805|231806|231806|231807|231807|231808|231809|231811|231811|237047|237047|237453|244162|244163|244671|244674|244675|244676|244678|244679|244680|244681|244681|244684|244684|244686|244687|244688|244689|244689|244690|244690|244691|244691|244692|244694|244694|244695|244696|244696|254287|254288|254290|254290|254291|254291|254292|254293|254294|254297|254297|254298|254300|254300|254301|254301|254302|254302|254303|254304|254306|254307|254307|254308|254308|254309|254309|254310|254310|254311|268601|268601|268886|268886|270553|272214|272215|272216|272216|273263|273263|314998|315002|315007|315009|315009|315010|315010|315020|315023|315027|315030|315037|321790|321790|321791|321791|321792|321792|321796|321807|321807|321808|321808|321812|321812|321813|321813|321814|321822|321824|321826|321827|327853|327853|327855|327855|327856|327856|327865|327867|327868|327868|327871|327874|327874|327875|327875|327878|327881|327884|328930|328933|328933|328934|328937|328938|328938|328939|328961|328961|328963|328972|328976|328978|328978|328983|328984|328985|328989|328995|329016|329017|359908|359908|360933|360933|372404|372408|372412|372412|372633|372636|372637|372643|372650|372653|374281|374289|374289|413321|415301|425942|426718|426719|433633|433636|433636|441485|441485|441486|441486|444880|444881|461439|461442|461444|461449|461601|461606|461614|461617|461617|461619|461628|461629|461638|461646|461654|461936|461941|461945|461948|461948|461950|461952|462264|462272|462274|462275|462278|462282|462289|480537|482001|482002|488174|488175|488181|488769|492298|503421|503427|503767|503767|503996|504001|504005|504390|511936|511937|512853|514295|526437|526458|526464|526465|526468|526469|526470|526472|526473|526473|526478|526488|526490|526492|526507|526509|526511|526753|526755|526761|526764|526767|527003|527007|527013|527019|527026|527031|527032|527034|527039|527039|527041|552154|552154|564877|564879|564887|564892|564895|564897|564899|564901|566123|566127|566131|566138|566141|566141|566142|566147|566156|566157|566158|567491|567492|567498|567501|567508|567510|567511|567511|567514|567516|569959|570922|570926|570936|570939|570947|570964|570972|570974|570976|570977|608961|611754|625209|625212|625226|625231|625232|625232|625251|625254|625255|625257|640397|640398|640399|640400|640401|640402|640403|640404|640405|640406|640407|640408|640409|640410|640411|640412|640413|640414|640415|640416|640417|640418|640419|640420|640421|640422|640423|640424|640425|640426|640427|640428|640429|640430|640431|640432|640433|640434|640434|654687|683036|693108|693109|693109|701953|730799|744748|768722|768723|768724|768727|784164|784165|815846|838933|838934|838935|838936|838937|838938|838939|838940|838941|838942|838943|838944|838945|838946|838947|838948|838949|838950|838950|838951|838952|838953|838954|838955|838956|838957|838958|838959|838960|838961|838962|838963|838964|838965|838966|838967|838968|838969|838970|838971|838972|852398|868714|868715|868716|868717|868718|868719|868720|868721|868722|868723|868724|868725|868726|868727|868728|868729|868730|868731|868732|868733|868734|868735|868736|868737|905286|926370|926371|926372|926373|926374|926375|926376|926377|926378|926379|935760|935761|935762|935763|935764|935765|935766|935767|935768|935769|941014|947642|947643|947644|947645|947646|947647|947648|947649|947650|956650|956651|956652|956653|956654|956655|960012|960762|970148", + "text": "Spinal muscular atrophy, distal, autosomal recessive, 1" + }, + { + "baseId": "24151|24152|24153|24157|89550|141271|171902|171902|171903|171903|171904|171905|171906|191017|191367|191532|191533|191657|191658|192323|195304|195305|195306|195307|195938|200698|200699|214088|214089|214089|214090|214090|215437|230227|231804|231805|231806|231807|231807|231808|231809|231811|237047|237453|244674|244675|244676|244678|244679|244680|244681|244684|244686|244687|244688|244689|244690|244691|244692|244694|244695|244696|254290|254291|254292|254297|254300|254301|254302|254307|254308|254309|254310|268601|268886|270553|272214|272215|272216|273263|315009|315010|321790|321791|321792|321807|321808|321812|321813|327853|327855|327856|327868|327874|327875|328933|328938|328961|328978|359908|360933|372404|372408|372412|372633|372636|372637|372643|372650|374281|374289|413321|415301|425942|426718|426719|426719|433633|433636|441485|441486|444880|444881|461439|461442|461444|461449|461601|461606|461614|461617|461619|461628|461629|461638|461646|461654|461936|461941|461945|461948|461950|461952|462264|462272|462274|462275|462278|462282|462289|482001|482002|488769|492298|503421|503427|503767|503996|504001|504005|504390|511936|513440|513441|526437|526458|526464|526465|526468|526469|526470|526472|526473|526478|526488|526490|526492|526507|526509|526511|526753|526755|526761|526764|526767|527003|527007|527013|527019|527026|527031|527032|527034|527039|527041|552154|564877|564879|564887|564892|564895|564895|564897|564899|564901|566123|566127|566131|566138|566141|566142|566147|566156|566157|566158|567491|567492|567498|567501|567508|567510|567511|567514|567516|569959|570922|570926|570936|570939|570947|570964|570972|570974|570976|570977|611754|614605|625209|625226|625231|625232|625254|625257|640397|640398|640399|640400|640401|640402|640403|640404|640405|640406|640407|640408|640409|640410|640411|640412|640413|640414|640415|640416|640417|640418|640419|640420|640421|640422|640423|640424|640425|640426|640427|640428|640429|640430|640431|640432|640433|640434|683036|693108|693109|701953|730799|744748|768722|768723|768724|768727|784164|784165|815846|838933|838934|838935|838936|838937|838938|838939|838940|838941|838942|838943|838944|838945|838946|838947|838948|838949|838950|838951|838952|838953|838954|838955|838956|838957|838958|838959|838960|838961|838962|838963|838964|838965|838966|838967|838968|838969|838970|838971|838972|852398|905286|926370|926371|926372|926373|926374|926375|926376|926377|926378|926379|935760|935761|935762|935763|935764|935765|935766|935767|935768|935769|941014|947642|947643|947644|947645|947646|947647|947648|947649|947650|956650|956651|956652|956653|956654|956655|960012|960762", + "text": "Charcot-Marie-Tooth disease, axonal, type 2S" + }, + { + "baseId": "24160|24161|24162|24163|24164|24165|150303|150304|215409|236854|429031|590112|970917", + "text": "Hypogonadotropic hypogonadism 6 with or without anosmia" + }, + { + "baseId": "24165|40253|40254|250134|254031|676956|790036|790934", + "text": "Holoprosencephaly 1" + }, + { + "baseId": "24166|415882|480767|970912", + "text": "Obesity, hyperphagia, and developmental delay" + }, + { + "baseId": "24167|24168|24169|227289|252041|298465|305182|305325|305328|455122|455762|563277|565260|689803|819646|819647|831350", + "text": "Cataract 13 with adult i phenotype" + }, + { + "baseId": "24170|24171", + "text": "ADULT i BLOOD GROUP PHENOTYPE" + }, + { + "baseId": "24172|904212", + "text": "Hirschsprung disease, cardiac defects, and autonomic dysfunction" + }, + { + "baseId": "24173|24174|31043|33104|33107|33108", + "text": "Hypertension, essential, susceptibility to" + }, + { + "baseId": "24175|24178|24179|24180|24181|186762", + "text": "Ataxia, Friedreich-like, with isolated vitamin E deficiency" + }, + { + "baseId": "24175|24176|24178|24179|24180|76497|76498|76499|76500|76503|76504|76505|76506|98779|186762|186763|205158|262263|262264|273731|305702|305704|305711|305713|305723|309719|309722|309723|309728|309729|309730|309733|314935|314938|314944|314946|314949|314950|314953|314955|314956|314963|314964|314968|315033|315035|315041|315076|315077|315080|357633|357634|357635|357636|357637|357638|361111|441239|441241|544455|544457|544461|544746|544751|544756|544798|544799|544852|544853|577065|621284|736729|736732|766871|766873|790813|793287|899902|899903|899904|899905|899906|899907|899908|899909|899910|899911|899912|899913|899914|899915|899916|899917|899918|899919|899920|899921|899922|899923|900510|978472|978473|978474|978475|978476", + "text": "Familial isolated deficiency of vitamin E" + }, + { + "baseId": "24176", + "text": "Ataxia and retinitis pigmentosa with isolated vitamin E deficiency" + }, + { + "baseId": "24182|99484|177941|177942|191518|191777|191777|237062|237123|254715|265975|268050|271271|273778|274070|318444|318456|318472|326590|326599|326608|334477|439240|445085|489752|489752|490942|492197|492198|492687|568171|572034|584575|584615|585129|588040|588243|588871|589317|611777|702506|713741|713742|738864|738865|738866|753604|753608|760252|778118|820436|840260|840261|840262|840263|840264|840265|840266|840267|840268|840269|870428|936258|936259|936260|936261|940274|948153|948154|948155|948156|948157|948158|956935|956936|956937|956938|956939|960058|961789", + "text": "Neonatal adrenoleucodystrophy" + }, + { + "baseId": "24182|24183|191518|191777|191777|237062|237123|254715|254716|254718|268050|271271|273778|274070|318412|318414|318420|318421|318422|318440|318444|318456|318468|318472|318474|318475|318480|318483|326572|326590|326590|326599|326605|326609|326622|326623|326624|326626|326628|332771|332777|332778|332789|332831|332839|332840|332844|332845|332853|332856|332861|332865|332866|334419|334421|334425|334446|334466|334477|334479|334485|334489|334493|334513|334516|334526|334535|334536|445085|489752|490774|568171|588243|702506|713741|738865|870408|870409|870410|870411|870412|870413|870414|870415|870419|870420|870428|870429|870430|870431|870432|870433|870434|870435|870436|870437|870438|870439|870440|870441|870442|870443|870444|872289|872292|872293|961789", + "text": "Peroxisome biogenesis disorder 2A (Zellweger)" + }, + { + "baseId": "24184|24185|24186|24187|34586|34587|90780|152879|190635|190636|193731|194525|214078|238076|255346|255348|255356|323310|323320|323323|323325|323328|323337|323339|323346|332989|332991|332995|339852|339853|339855|339856|339859|339861|341271|341275|341278|341280|384491|400478|429716|620528|622428|672023|690116|788890|842667|874074|874075|874076|874077|874078|874079|874080|874081|874082|874083|874084|874085|874086|874087|874088|874089|874090|876565|919594", + "text": "Bardet-Biedl syndrome 4" + }, + { + "baseId": "24188|142851|211657|318776|318777|318779|318780|318782|318783|327125|327126|327128|327137|333233|333244|333255|333257|333258|333259|334960|334965|334966|334967|504138|870601|870602|870603|870604|870605|870606|870607|870608|870609|870610|870611|919474|965592|965594", + "text": "Mitochondrial phosphate carrier deficiency" + }, + { + "baseId": "24189|24190|24191|152880|177235|177758|193428|195239|227146|227147|252354|254464|300123|300125|302849|302851|302852|302854|302855|302858|307228|307229|307231|307237|307238|307241|307470|307471|307480|316421|316461|323958|323963|324015|329992|330003|331332|331346|331361|331368|353771|353775|446828|612638|790627|818246|831944|856439|895972|895973|895974|896255|896256|896257|896258|896259|896260|896261|896262|896263|896264|896265|900228|945027|963226|963227|963228|963229|963230|963231|963232|963233|963234|963235", + "text": "Cone dystrophy 3" + }, + { + "baseId": "24192|24193|24194|24195|24196|24197|24198|24199|24200|24201|75357|227343|313239|313244|313252|313253|313256|319364|319377|319381|319382|319387|325500|325501|325502|325506|326449|326462|326469|326470|326471|360797|441396|441397|514623|620393|620394|682321|752538|838116|858565|858566|859846|867547|867548|867549|867550|867551|867552|867553|867554|867555|867556|867557|867558|867559|969607|976530", + "text": "Bartter syndrome, type 2, antenatal" + }, + { + "baseId": "24202|24205|24206|24210|24216|24218|24219|424702|576822|576823|621743|622775|622776|679853|917787|917788|961847|971379|971380", + "text": "Werdnig-Hoffmann disease" + }, + { + "baseId": "24203|24207|24208|24212|24214|24216|424702|622772|622775|622780", + "text": "Spinal muscular atrophy, type II" + }, + { + "baseId": "24220|24221|178015|919298", + "text": "Retinitis pigmentosa 44" + }, + { + "baseId": "24222|24223|24224|24225|24227|24230|24231|24232|24233|24234|24235|44146|49409|49410|49412|49413|49414|49415|49416|49417|49418|49419|194788|256835|256836|256840|256841|256842|332896|332899|332902|332903|332904|332908|332910|332913|332926|332927|332933|343078|343080|343082|343086|348422|348423|348428|348435|348438|348440|348444|349576|349577|349579|349581|349583|353490|423253|432471|489146|704863|704864|741733|791918|791919|791920|791921|798742|806428|806429|806430|806431|806432|880184|880186|880187|880188|880189|880190|880191|880193|880194|880195|880196|880197|880198|880199|880200|880201|880202|880203|880204|880722|880723|880724|880725", + "text": "Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome" + }, + { + "baseId": "24226|24229", + "text": "Epiphyseal dysplasia, multiple, 1, severe" + }, + { + "baseId": "24228|24232|24236|24237|49409|49416|49417|76461|76462|76463|76464|76465|194788|256835|256836|256840|256841|256842|332896|332899|332902|332903|332904|332908|332910|332913|332926|332927|332933|343078|343080|343082|343086|348422|348423|348428|348435|348438|348440|348444|349576|349577|349579|349581|349583|423253|432471|489146|612108|623352|679807|679808|679809|704863|704864|741733|798743|880184|880186|880187|880188|880189|880190|880191|880193|880194|880195|880196|880197|880198|880199|880200|880201|880202|880203|880204|880722|880723|880724|880725|977292|980388", + "text": "Multiple epiphyseal dysplasia 1" + }, + { + "baseId": "24233", + "text": "Pseudoachondroplasia, severe" + }, + { + "baseId": "24237|983299", + "text": "CARPAL TUNNEL SYNDROME 2" + }, + { + "baseId": "24238|24239|24241|24242|199792|265414|309641|309642|309644|309646|309647|309649|309653|309655|309656|309659|309661|309665|309669|309670|309671|309677|309678|309682|309686|309689|309691|314449|314454|314462|314472|314474|314481|314482|314485|314486|314487|314488|314489|314492|314493|314494|314495|314502|314514|314520|314526|314529|314530|314534|314538|314545|314546|320498|320504|320513|320516|320517|320520|320526|320527|320530|320532|320535|320536|320545|320547|320555|320556|320557|320559|320561|320565|320582|320589|320590|320600|320601|320603|320605|320612|321002|321010|321011|321012|321014|321017|321019|321025|321052|321057|321058|321061|321065|321066|321074|321076|321077|321083|321084|321085|321087|321092|321101|321106|321114|321118|353122|364182|444567|459709|460622|525010|525215|563608|566105|566199|569551|620346|620818|638762|638763|638764|638765|638766|638767|638768|638769|692795|692796|723825|737390|790943|836687|836688|836689|836690|861586|865534|865535|865536|865537|865538|865539|865540|865541|865542|865543|865544|865545|865546|865547|865548|865549|865550|865551|865552|865553|865554|865555|865556|865557|865558|865559|865560|865561|865562|865563|865564|865565|865566|865567|865568|865569|868455|925761", + "text": "Deficiency of 2-methylbutyryl-CoA dehydrogenase" + }, + { + "baseId": "24243|24245|24247|24248|141142|141142|141143|141144|141145|141146|141147|141147|186076|191530|205754|212578|213574|221697|221699|244499|245262|252786|252786|252788|252790|252795|252795|302780|302781|302785|302795|302796|302798|306103|306109|306110|306131|306135|306149|306154|310897|310901|310902|310903|310904|310905|310906|310908|310909|311055|311072|311080|311081|311082|311085|311086|311087|311089|311090|395627|395871|407124|425751|434618|457340|636133|683004|800399|833570|897972|897973|897974|897975|897976|897977|897978|897979|897980|897981|897982|897983|900352|973006", + "text": "Charcot-Marie-Tooth disease type 2D" + }, + { + "baseId": "24249|24250|24251|24253|24254|24255|45006|45007|45008|45009|45009|45010|45011|45012|45014|45015|45016|45017|45018|45019|45020|45021|45022|45023|45024|45025|45026|45027|45028|45030|134684|134686|165951|165951|208662|208663|335452|335454|335461|335462|335465|335467|335470|335479|335495|335497|335506|335507|335519|335521|335523|345257|345263|345264|345266|345268|345270|345275|345281|345285|345287|345289|345293|345301|345302|345305|345307|349981|349986|349987|349989|349990|349992|349994|349995|349999|350000|350006|350009|350985|350987|350988|350991|350992|350995|350998|350999|351002|351003|351004|351007|351010|351021|351024|384504|424389|430313|430314|431538|486284|507169|507770|577852|577863|578356|609055|609056|609057|620658|622122|654702|760954|793843|886111|886112|886113|886114|886115|886116|886117|886118|886119|886120|886121|886122|886123|886124|886125|886126|886127|886128|886129|886130|886131|886132|886133|886134|886135|886136|886137|886138|886139|886140|886141|886142|886143|886144|886145|886146|887460|961137|961138|961139", + "text": "Maturity-onset diabetes of the young, type 1" + }, + { + "baseId": "24256|39017|249475|265897|266270|268287|272011|272608|275265|276854|276855|276856|276857|276858|276861|276863|276877|276878|277144|277145|277150|277152|277156|277157|277161|277163|277711|277712|277714|277725|277726|277728|277760|277762|277763|277801|277803|277805|277826|277829|277830|277831|277837|277841|277842|277843|277844|277848|277864|277874|277876|277886|489566|490681|490821|491361|492180|556715|586959|587020|588362|620706|822906|822907|822908|822909|862560|862561|862562|862563|862564|862565|862566|862567|862568|862569|862570|862571|862572|862573|862574|862575|862576|862577|865019|930109|941532|941533|941534", + "text": "Peroxisome biogenesis disorder 12A" + }, + { + "baseId": "24257|24258|24259|24260|24261|24262|24263|24264|24265|24266|24267|106815|106815|205022|213652|214545|256790|256791|256792|256793|256794|256795|256796|256797|256798|256799|256800|256801|256803|256804|256805|256806|256808|256810|256811|256812|256813|256814|256816|256817|256819|256820|256821|256822|256823|256824|256825|256826|332706|332715|332717|332719|332721|332724|332725|332726|332731|332741|332746|332748|332751|332763|332764|332766|342885|342887|342889|342890|342893|342898|342900|342902|342904|342914|342916|342918|342922|342924|342926|342928|348234|348239|348243|348244|348248|348249|348253|348256|348257|348261|348262|348266|348268|348270|349434|349437|349438|349439|349441|349442|349445|349448|349453|349455|349456|349458|349460|349462|349463|349465|349466|349468|349469|349472|361523|413498|442090|442091|442092|442096|442109|442110|442116|442131|442136|442138|442147|442152|442156|442159|442166|442168|442168|442171|442177|442180|442184|442186|442187|513142|513143|536981|536981|537323|577758|620630|677047|694339|694345|694347|716233|716234|727962|727968|741654|786098|791908|791909|791910|791911|793750|793758|793763|793764|793769|797760|797761|799024|799025|799026|799027|799028|858383|861655|880013|880014|880015|880016|880017|880018|880019|880020|880021|880022|880023|880024|880025|880026|880027|880028|880029|880030|880031|880032|880033|880034|880035|880036|880037|880038|880039|880040|880041|880042|880043|880044|880045|880046|880047|880048|880049|880050|880051|880052|880053|880054|880055|880056|880057|880058|880059|880060|880061|880062|880063|880064|880065|880066|880067|880704|880705|880706|880707|880708|919834|919835|919836|919837|919838|919839|920402|920403|961018|964513|964514|964515|964516|971121", + "text": "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1" + }, + { + "baseId": "24258", + "text": "Migraine without aura" + }, + { + "baseId": "24264", + "text": "Recurrent subcortical infarcts" + }, + { + "baseId": "24268|24269|138704|275435|590450|623235|672207|672208|800389|818155|818156|918548|977167", + "text": "Alagille syndrome 2" + }, + { + "baseId": "24270", + "text": "Hypotrichosis and recurrent skin vesicles" + }, + { + "baseId": "24271", + "text": "Mycobacterium tuberculosis, susceptibility to infection by" + }, + { + "baseId": "24272", + "text": "Buruli ulcer, susceptibility to" + }, + { + "baseId": "24273|24274|24276|24283|24284|24288|96770|96771|96791|96805|96813|190109", + "text": "MISMATCH REPAIR CANCER SYNDROME 4" + }, + { + "baseId": "24273|24276|24279|24281|24282|24283|24284|24284|45346|45348|45349|45350|45350|45351|45352|45353|45354|50140|50141|50142|50143|50144|50145|50146|50147|50148|50148|50152|50153|50153|50154|50155|50156|50157|50160|50161|96752|96754|96766|96773|96774|96779|96781|96786|96790|96792|96793|96796|96798|96799|96802|96804|96805|96806|96808|96809|96812|96815|96818|96825|96830|96836|96841|96841|96843|96850|96851|96852|96857|96857|99143|133208|133209|133218|133219|133220|133227|133227|133230|133234|133237|133237|133243|133245|133248|133248|133249|133249|133250|133251|133252|133252|133253|133253|133255|133255|133259|136478|138804|138805|138808|138809|139651|139651|139653|139655|142401|142403|142404|142406|142409|150545|150594|150877|151108|151237|151369|151374|151378|151397|151546|151780|151971|152135|152275|152290|152291|152291|152349|152385|152385|152479|152589|152673|152674|180259|180263|180265|180267|180268|180273|180273|182687|182691|182697|182710|182723|182725|182727|182738|182738|182748|182751|182761|182763|182764|182770|182771|182772|182774|182777|182782|182786|182793|182795|182798|182807|182807|182808|182811|182812|182817|182820|182823|182824|186085|190025|195590|212589|212598|212599|212609|212611|212612|215365|215366|221705|221705|221713|221713|221723|221725|221733|221735|221736|231655|231678|231688|231692|231698|233490|233494|233515|233525|233527|233528|233547|233549|233550|233555|233555|233557|233568|233589|233597|240109|240126|240130|240145|240146|240147|303242|306557|311471|311622|311623|358801|358802|358803|395732|395935|395978|396076|396106|396349|396360|407182|407204|409030|432648|432650|456778|456783|457251|457842|457889|474555|474569|474600|474639|482711|483958|483975|484009|484132|484145|523007|523324|539261|539262|539263|539264|539265|539266|539267|539268|539269|539270|539271|561683|575783|576260|623314|636292|790739|790740|790741|790742|790743|790744|790745|790746|790747|790748|898280|898281|900383|900384|967150|967186|970862", + "text": "Hereditary nonpolyposis colorectal cancer type 4" + }, + { + "baseId": "24284|46484", + "text": "Pituitary carcinoma" + }, + { + "baseId": "24290", + "text": "Systemic lupus erythematosus, association wit 2" + }, + { + "baseId": "24291|24291|24292|27922|27923|27924|27925|27926|27930|27931|75309|79394|79406|79454|79474|79478|79482|79484|79517|79520|79534|79540|79545|79552|79556|79557|79558|99386|135657|142693|142696|142698|142705|178737|188676|188677|188682|188684|188693|188702|256855|256856|333128|333131|343244|348589|349668|349669|507247|572346|574937|587697|611431|614064|626118|682721|802062|805109|880288|880289|880290|880291|880292|880293|880294|880295|880296|880297|880298|880299|880300|880301|880302|880303|880304|880305|880306|880307|880729|904067|964521", + "text": "Generalized epilepsy with febrile seizures plus, type 1" + }, + { + "baseId": "24291|45413|45414|178058|191370|273736|282565|282594|283206|283227|283258|283267|283293|283322|284810|285355|285356|296799|298652|302896|906365|906366|906367|906368|906369|906370|906371|906372", + "text": "Generalized epilepsy with febrile seizures plus" + }, + { + "baseId": "24291|24291|75309|75309|75310|188677|188682|188693|574937|611431", + "text": "Atrial fibrillation, familial, 13" + }, + { + "baseId": "24291|24291|24293|45417|75309|75309|99386|135657|142693|142695|142696|142698|142699|142700|142701|142702|142703|142705|142708|178737|178738|188675|188676|188677|188677|188681|188682|188682|188683|188684|188685|188686|188688|188689|188690|188692|188693|188694|188695|188696|188697|188702|188703|188704|188707|188708|243330|243331|256855|256856|266971|268778|333128|333131|343244|348589|349668|349669|377372|377574|377579|377590|403241|403285|403289|403290|403733|403735|403741|403752|430178|442194|468632|468634|468637|468638|469629|469632|469636|469644|469647|469648|470044|470620|482189|495524|507247|532844|532849|532926|532928|533298|572346|572712|573032|574937|574937|574938|587697|611431|611431|624878|647936|647937|647938|647939|647940|647941|684785|694375|694376|695818|741775|805109|847532|847533|847534|847535|847536|847537|847538|847539|847540|847541|847542|847543|851809|852862|880288|880289|880290|880291|880292|880293|880294|880295|880296|880297|880298|880299|880300|880301|880302|880303|880304|880305|880306|880307|880729|928928|938644|938645|938646|938647|938648|938649|938650|940480|950749|950750|958597|958598|971125", + "text": "Brugada syndrome 5" + }, + { + "baseId": "24291|75309|188677|188682|188693|362555|362556|574937|611431|682721|682722", + "text": "Epileptic encephalopathy, early infantile, 52" + }, + { + "baseId": "24294|24295|24425|24434|24437|78668|78824|78831|78924|78928|224179|224386|224557", + "text": "Cardiac conduction defect, nonspecific" + }, + { + "baseId": "24296|24297|24298|24299|24300|24301|199940|199941|199942|276193|276194|276207|276208|276210|276211|276213|276455|276465|276469|276471|276472|276840|276843|276847|276859|276923|276926|276928|276932|276933|276942|276948|353052|364392|414725|442601|447166|481400|481401|556607|556895|558008|581744|587944|609346|626728|626729|626730|626731|626732|626733|650519|650617|718145|815883|818844|822619|822620|822621|822622|822623|850710|858543|858544|862111|862112|862113|862114|862115|862116|862118|862121|862122|862123|862124|862125|862126|864968|864969|903500|921610|940599|941407|941408|941409|941410|941411|952038", + "text": "mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency" + }, + { + "baseId": "24307|24308|24309|175749|175889|191353|193465|193466|230335|230338|318246|318248|318254|318256|318260|318268|318271|318273|318280|318282|318283|318284|318285|326232|326237|326241|326243|326249|326253|326259|326263|332508|332511|332523|332532|332536|332540|332543|332548|332550|334121|334122|334123|334124|334131|334139|334143|334146|334150|334151|334153|578502|578503|582711|620454|713693|725223|753541|753543|870271|870272|870273|870274|870275|870276|870277|870278|870279|870280|870281|870282|870283|870284|870285|870286|870287|870288|870289|872282|872283", + "text": "Bronchiectasis with or without elevated sweat chloride 2" + }, + { + "baseId": "24310|24311|24312|24313|24314|24315|24316|24317|24318|24321|24322|24322|24323|24324|24327|24328|24330|171166|171167|171167|254991|254992|260057|260057|320705|320709|320715|320716|320717|320722|320723|320723|320725|320725|320735|320736|329510|329511|329514|329519|329520|329523|329532|329537|329538|329538|329541|329558|329560|336147|336154|336160|336161|336166|336167|336168|336182|336185|338039|338042|338045|338046|338050|338051|338056|338061|338066|338067|338071|338071|338072|338096|373875|437970|463824|463831|463831|463836|463966|464163|464169|464175|464177|464321|482050|513447|527839|528216|528574|528680|528685|566501|568125|568138|568944|568946|568949|572820|572826|577351|612989|642511|642512|642513|642514|642515|642516|642517|642518|642519|652312|652318|652355|688314|702900|702900|801551|820629|820630|841559|841560|851561|852001|852747|871942|871943|871944|871945|871946|871947|871948|871949|871950|871951|871952|871953|871954|871955|871956|871957|871958|871959|927103|927104|936638|936639|936640|948589|957238|957239|983819", + "text": "Dystonia 5" + }, + { + "baseId": "24319|24320|24321|24322|24325|24331|27363|27364|27365|27366|27367|27368|27369|27370|27371|27372|27373|34718|45062|186821|205167|241071|241073|241074|241076|254105|254106|254108|254109|254110|254114|254115|254116|313632|313633|313637|313638|313640|313641|313643|313646|313647|313649|313653|319828|319830|319843|319846|319847|319849|325998|325999|326005|326006|326007|326010|326011|326018|326978|326982|326983|326984|326992|326993|357963|357964|357965|357966|357967|357968|357969|357970|357971|361307|361308|361618|372119|398449|398531|398540|413302|415263|437882|441420|444773|461058|461767|489308|526025|526532|545991|545996|545998|546000|546003|546011|546016|546019|546020|546022|546031|546032|546268|546270|546273|546278|546303|546310|546312|546314|546411|546412|546415|546418|546421|546422|546424|546429|546430|546432|546443|546444|546627|546630|546631|546638|546639|546643|546644|546646|546650|546652|546653|565602|567130|567131|570432|570440|577191|581766|639861|639862|639864|639865|639866|639869|639870|639873|639874|639875|652173|652528|684240|684241|684242|684243|684244|684245|684246|685283|687729|687730|687731|687734|687735|687736|687738|687742|701704|701705|712765|724363|724364|724366|737917|737919|768392|791123|791124|796550|798640|838186|838187|838192|838196|838199|838200|867735|867736|867737|867738|867739|867740|867741|867742|867743|867744|867745|867746|867747|867748|919350|956446|978968|978969|978970|978971|978972|978973|978974|978975|978976|978977|978978|978979|978980|978981|978982|978983|978984", + "text": "Autosomal recessive DOPA responsive dystonia" + }, + { + "baseId": "24321|24322|24322|24326|24329|171166|171167|171167|254991|254992|260057|320705|320709|320711|320715|320716|320717|320722|320723|320723|320725|320725|320735|320736|329510|329511|329513|329514|329519|329520|329523|329532|329537|329538|329538|329541|329558|329560|329573|336147|336154|336160|336161|336164|336166|336167|336168|336174|336182|336185|338039|338040|338042|338045|338046|338050|338051|338056|338061|338066|338067|338071|338071|338072|338096|353302|373875|437970|463824|463831|463831|463836|463966|464163|464169|464321|482050|527839|528216|528574|528680|528685|566501|568125|568138|568944|568946|568949|572820|572826|577351|612989|622846|642511|642512|642513|642514|642515|642516|642517|642518|642519|652312|652318|652355|688314|702900|702900|791413|791414|820629|820630|841559|841560|851561|852001|852747|871942|871943|871944|871945|871946|871947|871948|871949|871950|871951|871952|871953|871954|871955|871956|871957|871958|871959|927103|927104|936638|936639|936640|948589|957238|957239", + "text": "GTP cyclohydrolase I deficiency" + }, + { + "baseId": "24332|24333|39008|39009|308007|308036|308037|308039|308041|308045|308046|308060|308061|312343|312346|312365|312372|312374|312376|312387|312388|312389|312391|312392|312396|312397|312398|312402|312404|312405|312409|312411|312412|312420|318050|318070|318104|318120|318124|318140|318148|318153|318154|318166|318176|318179|318195|318198|318202|318207|318220|318221|318622|318623|318624|318647|318652|318654|318658|318666|318667|318671|318674|318681|318684|318685|318689|318695|318696|318697|318715|318716|318727|318732|508837|552141|609731|620328|723540|901795|901796|901797|901798|901799|901816|901819|901824|901831|901833|901834|901835|901836|901837|901838|901839|901840|901841|901842|901843|901844|903378|903379|903381|903382|905822", + "text": "Multiple cutaneous and mucosal venous malformations" + }, + { + "baseId": "24334|24335|24337|24338|24341|24342|24343|24344|24345|24346|76533|76534|193462|204425|252379|300384|300386|300387|300389|300390|300392|300396|300397|300402|300404|300405|300411|300413|300424|300426|300430|300438|300440|303224|303245|303246|303250|303256|303257|303258|303262|303263|303270|303272|303281|303283|303289|303291|303296|307741|307742|307744|307745|307747|307755|307756|307758|307759|307760|307762|307769|307779|307781|307782|307783|307786|307907|307922|307932|307935|307937|307938|307941|307944|307946|307947|307959|307969|307971|368950|431555|538998|538999|539000|622371|682807|790635|816464|818248|896498|896499|896500|896501|896502|896503|896504|896505|896506|896507|896508|896509|896510|896511|896512|896513|896514|896515|896516|896517|896518|896519|896520|896521|896522|896523|896524|896525|896526|896527|896528|896529|896530|896531|896532|905032|905033|905034|905035|905036|905037|905038|905039|916966|964280|966619", + "text": "Cleidocranial dysostosis" + }, + { + "baseId": "24336", + "text": "Cleidocranial dysplasia, forme fruste, with brachydactyly" + }, + { + "baseId": "24339", + "text": "Cleidocranial dysplasia, forme fruste" + }, + { + "baseId": "24340", + "text": "Cleidocranial dysplasia, severe, with osteoporosis and scoliosis" + }, + { + "baseId": "24343", + "text": "Cleidocranial dysplasia, forme fruste, dental anomalies only" + }, + { + "baseId": "24347", + "text": "Skin/hair/eye pigmentation, variation in, 9" + }, + { + "baseId": "24348|24349|24350|24351|24352|24353|24354|24355|317818|317822|317827|317831|317836|317842|317844|317848|317850|317854|317855|317857|317861|325701|325702|325703|325704|325711|325716|325717|325722|325732|325738|331929|331930|331932|331933|331939|331940|331950|331953|331955|331956|331965|331969|331972|331979|331984|331987|331988|331989|333461|333462|333473|333478|333484|333485|333489|333491|353250|713592|725164|870119|870120|870121|870122|870123|870124|870125|870126|870127|870128|870129|870130|870131|870132|870133|870134|870135|872260|872261", + "text": "Ichthyosis bullosa of Siemens" + }, + { + "baseId": "24349", + "text": "Ichthyosis exfoliativa" + }, + { + "baseId": 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3|538724|538725|538726|538727|538728|538729|538730|538731|538733|538734|538735|538736|538737|538738|538739|538740|538741|538742|538743|538744|538746|538747|538748|538749|538750|538751|538752|538753|538754|538755|538756|538757|539331|539332|539333|539334|539335|539336|539337|539338|539339|539340|550198|568308|575894|575896|575897|575899|575900|575901|575902|575903|575904|575905|575907|575908|575909|575911|575912|575913|575914|575915|575917|575919|575920|575922|576266|581823|609297|618039|618083|619905|625975|626441|641694|641915|645950|672000|672001|682731|753815|784568|789565|791298|791299|791300|791301|791302|791303|791304|791305|791306|791307|791308|791309|791310|791311|791312|791313|791314|791315|791316|791317|791318|791319|791320|791321|791322|791323|791324|791325|791326|791327|791328|791329|791330|791331|791332|791333|791334|791335|791336|791337|791338|791339|791340|791341|799100|800790|800793|800794|800795|800796|811340|840638|858807|858808|861539|861552|871070|871071|871072|871073|871074|871075|871076|871077|872326|919496|919497|964678|965615|966853|967199|972455|972476|972479|974563|974939|977409", + "text": "Breast-ovarian cancer, familial 2" + }, + { + "baseId": "24364", + "text": "Pancreatic cancer 2" + }, + { + "baseId": "24364|24368|24378|24381|24382|24383|24384|24386|24387|24388|46290|46297|46314|46324|46334|46357|46363|46419|46466|46483|46492|46492|46497|46506|46514|46531|46553|46577|46593|46608|46633|46637|46642|46658|46690|46698|46720|46724|46761|46768|46776|46797|46799|46804|46808|46814|46822|49979|49980|49981|49982|49983|49984|49985|49987|49995|49998|49999|50000|50001|50003|50004|50006|50008|50009|50011|65711|65716|65759|65761|65860|65861|65902|65946|65970|65973|65982|66011|66017|66023|66034|66038|66047|66049|66098|66103|66149|66199|66257|66260|66284|66312|66328|66345|66350|66470|66481|66526|66533|66558|66563|66564|66580|66595|66627|66650|66680|66725|66755|66833|66834|66851|66855|66867|66888|66909|66917|66928|66995|67005|67119|67197|67262|67266|67274|67360|67365|67447|67524|67537|67566|67578|67585|96914|96929|96932|97234|102665|102683|102691|131465|131481|131503|131514|131517|131548|131560|131671|131696|131755|136527|136528|136529|139502|139515|140259|140264|140270|140272|150752|151220|151521|151581|152234|152302|152511|183702|183725|183754|183765|183766|184083|205809|205810|206171|206172|206174|206175|206176|213029|231895|234645|234751|234836|235000|241633|249039|259530|259531|319365|319367|319371|327917|327920|327924|334200|334204|334205|334218|335892|335906|335918|335956|416354|432761|435021|476615|484868|550313|568308|612193|618083|641763|811340|871070|871071|871072|871073|871074|871075|871076|871077|872326", + "text": "Fanconi anemia, complementation group D1" + }, + { + "baseId": "24364|24379|46287|46310|46796|66620", + "text": "BRCA2-Related Disorders" + }, + { + "baseId": "24381|24385", + "text": "Glioma susceptibility 3" + }, + { + "baseId": "24394|24394|24396|24396|24398|38391|104431|104432|104433|104433|104436|104440|104441|104447|104448|104456|104456|104471|104480|104492|152779|152779|191486|191862|192077|192078|192193|194278|194279|194279|195216|195217|256531|256534|267852|267852|361027|374152|410300|438037|468444|469027|469027|469226|489189|489189|493639|551585|569886|569892|570726|578553|584376|610116|623351|626263|646841|646842|646914|694210|694219|704421|704423|704424|704425|704426|704427|704428|715777|715781|731182|756205|756208|756209|771892|771893|771894|771918|778416|785781|791837|791839|791839|791840|791840|791841|791842|846355|846356|846357|846358|846359|846360|846365|846366|846367|846369|846370|846435|846436|846437|846438|846439|846440|846441|846442|846443|846444|846445|846446|846447|846448|846449|851759|903674|938267|938268|938269|938270|938271|938272|938273|938274|938277|938278|938279|938297|938298|938299|938300|938301|938302|938303|938304|950343|950344|950345|950348|950349|950350|950351|950368|950369|950370|950371|950372|950373|950374|950375|958342|958343|958344|958346|958347|958348|958373|958374|958375|958376|958377|960253|962029", + "text": "Cone-rod dystrophy 6" + }, + { + "baseId": "24394|104456|104471|267852|361027|438038|578553|609333|626263|919774|919781|920383", + "text": "Choroidal dystrophy, central areolar 1" + }, + { + "baseId": "24396|28222|57649|57709|105317|331368|431634|431838|438037|576244|623968|623984|623986", + "text": "Progressive cone dystrophy (without rod involvement)" + }, + { + "baseId": "24399|24400|24401|24402|24403|24404|24405|45080|45081|45082|45085|91911|138304|138305|138308|138310|138311|138312|138314|138318|138319|138323|141299|141300|141302|141303|141304|188906|247160|332795|332803|332805|332806|332810|332811|332813|332817|332826|332828|332830|332832|342963|342964|342967|342968|342975|342976|342979|342984|342988|343000|343008|343009|343016|343018|343021|348311|348314|348315|348316|348320|348322|348324|348327|348329|348333|348338|348339|348343|348352|348358|348359|349510|349511|349513|349515|349516|349517|349520|349521|349524|349525|349527|349528|349531|349532|349533|349534|360407|362993|376383|377343|377347|379510|410548|410549|468562|469484|469485|470525|470527|532753|532778|532779|532780|532782|532843|532848|532852|533187|533209|570590|570592|570597|570599|572974|572977|574906|574907|574908|574909|574910|614457|624654|647796|647797|647798|647799|647800|647801|647802|647803|647804|647805|647806|647807|647808|647809|647810|647811|647812|647813|647814|647815|647816|647817|647818|647819|656521|694358|694359|695815|704851|741704|741707|741708|760833|772521|776569|778504|779992|791912|791913|791914|847413|847414|847415|847416|847417|847418|847419|847420|847421|847422|847423|847424|847425|847426|847427|847428|847429|847430|847431|847432|847433|847434|847435|852319|880087|880088|880089|880090|880091|880092|880093|880094|880095|880096|880097|880098|880099|880100|880101|880102|880103|880104|880105|880106|880107|880108|880109|880110|880111|880112|880113|880114|880115|880116|880117|880118|880119|880120|880121|880122|880123|880124|880125|880710|880711|880712|880713|928892|928893|928894|928895|938613|938614|938615|950712|950713|958568|958569|958570|958571|964517", + "text": "Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative" + }, + { + "baseId": "24406", + "text": "GIL BLOOD GROUP" + }, + { + "baseId": "24408|24409|24413|24414|24415|24416|24421|24423|24426|24427|24428|24431|24432|24435|24438|24439|24440|24445|38447|45419|45421|45422|45423|45424|45426|45427|45428|48043|57443|57444|57446|57448|57448|57448|57450|57450|57450|57451|57453|57455|57456|57457|57458|57459|57460|57461|57464|57467|57470|57474|57476|57478|57478|57479|57481|78547|78555|78567|78578|78586|78588|78607|78607|78627|78629|78664|78665|78666|78667|78683|78697|78729|78731|78750|78797|78825|78826|78829|78831|78842|78870|78872|78877|78902|78906|78912|78914|78916|78917|78919|78924|78926|78945|142746|142747|142750|142754|142755|142756|142757|142764|142769|173784|173789|173792|173917|173920|173921|173926|173928|196826|196826|196863|196864|196868|196890|196904|196928|196929|196995|196998|204196|229045|239196|239203|246944|258319|290247|290248|290251|290261|290262|290267|290268|290269|290272|290275|290282|291024|291043|291051|291052|291054|291055|291056|291061|291079|291083|291086|291098|291099|291100|294304|294321|294323|294324|294336|294340|294343|294369|294382|294387|294400|294414|294719|294723|294725|294748|294749|367203|367473|367482|367499|367523|393593|404765|439876|452218|452452|452553|500768|509585|509600|511073|519397|551763|551765|551766|551767|558918|559467|559471|578417|616892|616902|616906|625791|625792|680043|680044|691385|818225|858552|888837|888838|888839|888840|888841|888842|888843|888844|888845|888846|888847|888848|888849|888850|888851|888852|888853|888854|888855|888856|888857|888858|888859|888860|888861|888862|888863|888864|888865|888866|888867|888868|888869|888870|888871|888872|891639|960995|966792|967149|967180", + "text": "Long QT syndrome 3" + }, + { + "baseId": "24410|24411|24412|24416|24419|24420|24421|24422|24426|24429|24430|24431|24432|24434|24436|24437|24438|24439|24441|24442|24445|24446|38446|38447|38448|39001|45419|45421|45422|45423|45424|45426|45427|45428|57443|57444|57446|57448|57448|57450|57450|57451|57453|57454|57455|57456|57457|57459|57460|57461|57464|57467|57470|57472|57473|57474|57476|57478|57478|57479|57481|78522|78528|78534|78552|78555|78559|78563|78567|78571|78577|78578|78579|78581|78587|78596|78605|78607|78607|78616|78627|78629|78643|78656|78658|78664|78665|78667|78670|78677|78683|78685|78696|78697|78702|78705|78714|78715|78727|78729|78750|78779|78805|78820|78831|78842|78859|78870|78877|78880|78888|78895|78897|78902|78906|78907|78912|78914|78916|78917|78925|78926|78934|78938|78939|78944|101304|142746|142747|142750|142754|142755|142756|142757|142764|142769|173781|173784|173788|173789|173792|173917|173920|173921|173926|173928|178526|188434|189217|189357|196826|196826|196863|196889|196890|196891|196896|196910|196913|196928|196929|196995|197003|197194|229045|229058|239196|239203|239222|248628|248629|251110|258311|258319|258926|290247|290248|290251|290261|290262|290267|290268|290269|290272|290275|290282|291024|291043|291051|291052|291054|291055|291056|291061|291079|291083|291086|291098|291099|291100|294304|294321|294323|294324|294336|294340|294343|294369|294382|294387|294400|294414|294719|294723|294725|294748|294749|367203|367473|367482|367499|367523|393560|393593|393828|393998|406291|424891|424899|439143|442549|452218|452553|452767|452775|500768|509585|509600|511073|519397|551764|558918|559467|559471|562851|578417|589828|589829|616892|616902|616906|625793|631281|631317|677131|679711|679712|691385|691397|790391|790392|858552|888837|888838|888839|888840|888841|888842|888843|888844|888845|888846|888847|888848|888849|888850|888851|888852|888853|888854|888855|888856|888857|888858|888859|888860|888861|888862|888863|888864|888865|888866|888867|888868|888869|888870|888871|888872|891639|909521|953454|960995|960996|960997|964222|966429|967149|967180|967264|967265|970532|983502", + "text": "Brugada syndrome 1" + }, + { + "baseId": "24413|24426|24431|24432|24433|24434|24435|24438|38447|45419|45421|45422|45423|45424|45426|45427|45428|57443|57444|57446|57448|57450|57451|57453|57456|57457|57459|57460|57461|57464|57467|57470|57474|57476|57478|57479|57481|78552|78555|78578|78607|78626|78664|78665|78666|78667|78683|78697|78714|78729|78750|78817|78842|78857|78870|78877|78880|78902|78906|78912|78914|78916|78917|78926|142746|142747|142750|142754|142755|142756|142757|142764|142769|173784|173789|173792|173917|173920|173921|173926|173928|196826|196849|196863|196890|196928|196929|196995|229045|239196|239203|258319|290247|290248|290251|290261|290262|290267|290268|290269|290272|290275|290282|291024|291043|291051|291052|291054|291055|291056|291061|291079|291083|291086|291098|291099|291100|294304|294321|294323|294324|294336|294340|294343|294369|294382|294387|294400|294414|294719|294723|294725|294748|294749|367203|367473|367499|367523|393593|452218|452553|500768|509585|509600|511073|513944|519397|558918|559471|616892|616902|616906|631317|691385|858552|888837|888838|888839|888840|888841|888842|888843|888844|888845|888846|888847|888848|888849|888850|888851|888852|888853|888854|888855|888856|888857|888858|888859|888860|888861|888862|888863|888864|888865|888866|888867|888868|888869|888870|888871|888872|891639|915654|918829", + "text": "Sick sinus syndrome 1, autosomal recessive" + }, + { + "baseId": "24416|173788|189359", + "text": "Sinus node disease" + }, + { + "baseId": "24417|24424|24426|24431|24432|24438|38447|44159|44160|45419|45421|45422|45423|45424|45426|45427|45428|57443|57444|57446|57448|57450|57451|57453|57456|57457|57459|57460|57461|57464|57467|57470|57474|57476|57478|57479|57481|78552|78555|78578|78607|78664|78665|78666|78667|78683|78697|78714|78750|78842|78870|78877|78880|78902|78906|78912|78914|78916|78917|78926|142746|142747|142750|142754|142755|142756|142757|142764|142769|173784|173789|173792|173917|173920|173921|173926|173928|196826|196863|196890|196928|196929|196995|229045|239196|239203|258319|290247|290248|290251|290261|290262|290267|290268|290269|290272|290275|290282|291024|291043|291051|291052|291054|291055|291056|291061|291079|291083|291086|291098|291099|291100|294304|294321|294323|294324|294336|294340|294343|294369|294382|294387|294400|294414|294719|294723|294725|294748|294749|367203|367473|367499|367523|393593|452218|452553|500768|509585|509600|511073|519397|558918|559471|616892|616902|616906|691385|858552|888837|888838|888839|888840|888841|888842|888843|888844|888845|888846|888847|888848|888849|888850|888851|888852|888853|888854|888855|888856|888857|888858|888859|888860|888861|888862|888863|888864|888865|888866|888867|888868|888869|888870|888871|888872|891639", + "text": "Progressive familial heart block, type 1A" + }, + { + "baseId": "24418", + "text": "Heart block, nonprogressive" + }, + { + "baseId": "24422|24426|24431|24432|24438|38447|45400|45419|45421|45422|45423|45424|45426|45427|45428|52126|53160|56054|57443|57444|57446|57448|57450|57451|57453|57456|57457|57459|57460|57461|57464|57467|57470|57474|57476|57478|57479|57481|78552|78555|78578|78607|78664|78665|78666|78667|78683|78697|78714|78750|78842|78870|78877|78880|78902|78906|78912|78914|78916|78917|78926|142746|142747|142750|142754|142755|142756|142757|142764|142769|165527|165553|173784|173789|173792|173917|173920|173921|173926|173928|176814|178465|178571|178579|178607|178629|178655|178718|178754|196826|196863|196890|196928|196929|196995|229045|239196|239203|258319|290247|290248|290251|290261|290262|290267|290268|290269|290272|290275|290282|291024|291043|291051|291052|291054|291055|291056|291061|291079|291083|291086|291098|291099|291100|294304|294321|294323|294324|294336|294340|294343|294369|294382|294387|294400|294414|294719|294723|294725|294748|294749|367203|367473|367499|367523|393593|452218|452553|500768|509585|509600|511073|519397|558918|559471|578456|616892|616902|616906|691385|858552|888837|888838|888839|888840|888841|888842|888843|888844|888845|888846|888847|888848|888849|888850|888851|888852|888853|888854|888855|888856|888857|888858|888859|888860|888861|888862|888863|888864|888865|888866|888867|888868|888869|888870|888871|888872|891639", + "text": "Paroxysmal familial ventricular fibrillation 1" + }, + { + "baseId": "24424|24426", + "text": "Atrioventricular block" + }, + { + "baseId": "24425", + "text": "Cardiac conduction defect, nonprogressive" + }, + { + "baseId": "24426|29188|45778|45780|54093|241801|514099", + "text": "Hemiplegia" + }, + { + "baseId": "24426|29188|54093|193096|241801|359762|513896|514011|514092|970990", + "text": "Migraine" + }, + { + "baseId": "24426|24431|24432|24435|24440|24445|38447|45419|45421|45422|45423|45424|45426|45427|45428|48043|48044|57443|57444|57446|57448|57450|57451|57453|57456|57457|57459|57460|57461|57464|57467|57470|57474|57476|57478|57479|57481|78552|78555|78578|78607|78626|78664|78665|78666|78667|78683|78697|78714|78750|78842|78870|78877|78880|78902|78906|78912|78914|78916|78917|78925|78926|142746|142747|142750|142754|142755|142756|142757|142764|142769|173784|173789|173792|173917|173920|173921|173926|173928|196826|196863|196890|196928|196929|196943|196995|229045|239196|239203|258319|290247|290248|290251|290261|290262|290267|290268|290269|290272|290275|290282|291024|291043|291051|291052|291054|291055|291056|291061|291079|291083|291086|291098|291099|291100|294304|294321|294323|294324|294336|294340|294343|294369|294382|294387|294400|294414|294719|294723|294725|294748|294749|367203|367473|367499|367523|393593|452218|452553|500768|509585|509600|511073|519397|558918|559471|578417|616892|616902|616906|691385|827994|858552|888837|888838|888839|888840|888841|888842|888843|888844|888845|888846|888847|888848|888849|888850|888851|888852|888853|888854|888855|888856|888857|888858|888859|888860|888861|888862|888863|888864|888865|888866|888867|888868|888869|888870|888871|888872|891639", + "text": "Dilated cardiomyopathy 1E" + }, + { + "baseId": "24431|24432", + "text": "Long qt syndrome 3, acquired, susceptibility to" + }, + { + "baseId": 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+ "text": "Romano-Ward syndrome" + }, + { + "baseId": "24432|29166|45135|51881|51992|52111|52138|53649|54357|57209|136674|141245|172435|174890|175138|175197|175452|175457|175645|175998|176098|178182|178256|179675|189962|205199|205200|205201|205202|205203|205204|205205|390140|398720|439513|463912|464185|467858|481117|499142|511101|624835|635277|672427|672440", + "text": "Left ventricular noncompaction" + }, + { + "baseId": "24433|57463|142741|173790|173931|178523|188736|224269|224275|290242|290243|290244|290254|290271|290276|291029|291030|291039|291040|291049|291066|291078|291087|291088|291095|294310|294320|294337|294342|294384|294386|294391|294399|294413|294701|294707|294717|294718|294722|294738", + "text": "Sick sinus syndrome" + }, + { + "baseId": "24435|178658", + "text": "AV junctional rhythm" + }, + { + "baseId": "24435|24438|78524|78817|196833|578417", + "text": "SCN5A-Related Disorders" + }, + { + "baseId": "24439|24440|39000|39001|39002|39003|39004|578417", + "text": "Atrial fibrillation, familial, 10" + }, + { + "baseId": "24440|78922", + "text": "Atrial standstill 1, digenic" + }, + { + "baseId": "24441|29481", + "text": "Long QT syndrome 2/3, digenic" + }, + { + "baseId": "24446|38448", + "text": "Brugada syndrome, lidocaine-induced" + }, + { + "baseId": "24447|24448|24449|24450|24451|24452|24453|24454|24454|24456|24459|24460|24461|24462|24463|24464|24465|38998|38999|50012|132983|139539|150825|180312|180325|212668|240597|397415|459102|459956|474923|475124|575787|575788|575789|575791", + "text": "Cutaneous malignant melanoma 2" + }, + { + "baseId": "24448|27386|27390|27395|27398|27413|27640|27641|27651|28691|40609|44227|50038|133269|139098|151478|151858|152480|179419|181011|232035|236455|237595|247391|247392|362912|362970|362976|363182|363352|363553|363555|403675|420985|423861|424253|424257|424258|424558|467518|479357|610691|610692|965896|965897|965898|965899|965900", + "text": "Lip and oral cavity carcinoma" + }, + { + "baseId": "24449|24451|24454|24454|24459|24462|45669|50012|50016|50017|50018|50019|132979|132980|132981|132983|133657|137619|137620|137621|137623|139538|140420|150825|150959|151314|180312|180315|180325|180325|180326|182929|212661|212662|212668|221816|221819|221820|221826|233746|233753|244545|244548|244550|244553|259924|358804|358805|358806|358807|358808|358809|358810|358811|358812|358813|358814|358815|358816|358817|371197|397415|397433|459097|459102|459420|459452|475122|539273|539274|539275|539276|575787|575789|790887|790888|790889|790890|790891|790892|790893|790894|790895|790896|790897|790898|790899|790900", + "text": "Melanoma-pancreatic cancer syndrome" + }, + { + "baseId": 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+ "text": "Hereditary melanoma" + }, + { + "baseId": "24454|24458|150825|180312|180325", + "text": "Melanoma and neural system tumor syndrome" + }, + { + "baseId": 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+ "text": "Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy" + }, + { + "baseId": "24467|24468|24469|24470|24471|24472|24473|38997|99648|100923|100932|100935|100936|100937|100946|100947|100956|137774|137778|169207|169208|169210|169211|169212|169213|169215|169216|169218|169219|169220|169221|169223|169226|169227|169228|169229|169230|169231|169233|169234|169235|169236|169237|169238|169239|169240|169242|169243|169244|169245|169246|169247|169248|169250|169251|169252|169253|169254|169255|169256|169258|169259|169260|169261|169263|169264|169265|169266|169267|169268|169269|169270|169271|169272|177285|191888|192379|193041|205026|205780|208240|208259|208260|208261|208262|208263|208264|208265|208267|208268|208269|208270|208271|208272|208273|208276|208277|208278|208279|208281|225888|263005|263759|264634|338281|338285|338289|338298|338300|338310|338323|338324|347913|347924|347930|347960|347966|347967|351703|351706|351710|351711|351714|351718|352602|352603|352608|352613|352614|360999|361586|362447|424990|429809|429810|431385|465732|465735|465745|465750|466446|466450|466463|466468|481223|511035|513131|513132|529241|529568|529980|529982|530098|530105|530307|530519|530522|530525|530527|536101|536103|536106|536108|536109|537256|539065|539104|550625|551791|567500|567504|568136|568137|570193|573660|574058|574060|574066|576341|578530|578531|583125|610645|611421|653890|677299|682825|682826|682835|682865|682866|682867|682868|682869|682870|682871|682872|682873|682874|682875|682876|682877|682878|682879|682880|682881|682882|682883|682884|682885|682886|682887|682888|682889|682890|682891|682892|682893|682894|682895|682896|682897|682898|682899|682900|682901|682902|682903|682904|682905|682906|682907|682908|682909|682910|682911|682912|682913|682914|682915|682916|682917|682918|682919|682920|682921|682922|682923|682924|682925|682926|682927|682928|682929|682930|682931|682932|682933|682934|682935|682936|682937|682938|682939|682940|682941|682942|682943|682944|682945|682946|682947|682948|682949|791615|791616|791617|791618|791619|792072|792074|792075|792076|792077|792078|792079|816004|857658|919648|919649|919650|919651|919652|919653|919654|919655|919656|961535|961536|961623|961624|963804|964049|964454|964455|964755|966029|966030|966031|969862|969880|971048|973041|975670|977275|977276", + "text": "Rubinstein-Taybi syndrome 1" + }, + { + "baseId": "24474|24475|24476|24477|24478|24479|45812|98212|135740|135741|168982|177027|177421|178065|186981|186982|194255|194256|194779|195192|195193|195194|213838|256270|265385|265523|265625|266096|266691|266748|267101|267355|267685|268237|268922|268945|269182|270055|270168|270250|270286|272832|273682|274010|274031|274128|274525|274759|274862|274955|329109|329113|358446|358447|358448|358449|358450|358451|358452|358453|358454|358455|358456|360257|378444|410065|410066|429989|445804|445806|466980|466985|467925|468175|468180|468374|468380|468383|468385|488497|488527|488615|488807|489091|489266|489699|491369|491436|491596|495843|531233|531400|531482|537290|548203|548208|548219|548227|548233|548240|548242|548244|548249|548534|548541|548542|548544|548545|548546|548552|548962|548966|548974|548975|548976|548977|548979|548985|569247|571259|571260|571626|574512|574513|574514|585149|587065|588618|608911|610086|646177|646178|646179|646180|646181|646182|646183|646184|652816|653480|681858|694115|694117|694118|695756|704210|740858|755933|776354|785638|788135|800046|802221|845601|845602|845603|845604|845605|845606|845607|845608|852760|852881|919740|928365|928366|928367|928368|938023|950026|958180|958181|958182|958183|958184|958185|958186|966167|966351", + "text": "Autosomal recessive limb-girdle muscular dystrophy type 2D" + }, + { + "baseId": "24476|24478|98214|98559|98560|98561|98562|98564|135740|135741|135742|177027|177421|194779|195193|195194|254830|256270|266748|267685|268922|269182|269367|270070|270168|272508|272665|274010|274946|275451|319224|327710|327711|327722|327724|329101|329103|329104|329108|329109|329114|334008|334010|334017|334022|335624|335632|339230|345125|345126|345131|345132|346500|346505|346506|346510|504463|539048|652816|679459|693327|760608|870888|870889|870890|870891|870892|870893|870894|870895|870896|870897|870898|870899|870900|870901|870902|877911|877912|877913|877914|877915", + "text": "Sarcoglycanopathy" + }, + { + "baseId": "24478|71221|265264|858952", + "text": "Limb-girdle muscular dystrophy, autosomal recessive" + }, + { + "baseId": "24480|24481|135773|192372|244074|297370|297382|297394|297395|297405|297409|297413|297415|297421|299377|299379|299389|299398|299411|299419|299422|299423|299424|299428|299434|299438|299455|299471|299477|299478|299479|299484|303592|303602|303604|303606|303630|303631|303637|303641|303642|303910|303913|303915|303916|303922|303924|303929|303932|303936|303941|303942|415004|709902|749482|749485|793085|795697|795698|894180|894181|894182|894183|894184|894185|894186|894187|894188|894189|894190|894191|894192|894193|894194|894195|894196|894197|894198|894199|894200|896095|896096", + "text": "Episodic ataxia, type 6" + }, + { + "baseId": "24482|193507|312076|312081|312083|312085|312088|317728|317747|317748|317749|317755|323771|323789|323792|323793|323795|323796|323804|323809|323818|323831|323837|323843|324482|324490|324493|324496|324502|324525|324539|324545|324546|324547|551955|724175|866823|866824|866825|866826|866827|866828|866829|866830|866831|866832|866833|866834|866835|866836|868581|868582|964351", + "text": "Spondyloepimetaphyseal dysplasia, Missouri type" + }, + { + "baseId": "24483|24484", + "text": "Metaphyseal anadysplasia 1, autosomal dominant" + }, + { + "baseId": "24485|181586|181587|324493|324539|539031|919313", + "text": "Metaphyseal chondrodysplasia, Spahr type" + }, + { + "baseId": "24486|615263|615264", + "text": "Noonan syndrome 12" + }, + { + "baseId": "24489|24490|24491|24492|24493|24494|24495|24496|34270|34271|34272|34273|48493|48494|85113|134936|134937|134938|134939|134940|134941|134942|134943|134944|134945|134946|134947|134948|134949|134950|134951|134952|134953|134954|134955|134956|134957|134958|134961|134962|134964|134965|134966|134967|134968|134969|134970|134971|134972|134973|134974|134975|134976|134977|134978|134979|134980|134981|134982|134985|134986|134987|134988|134989|134991|134992|206889|206890|206891|206892|206893|206894|206898|206899|206901|206902|206904|227222|227302|236930|250373|250374|250375|250379|250381|250383|274476|282637|282638|282639|282641|282642|282644|282648|282649|282655|282658|282660|282662|282666|282669|282670|282672|282673|282674|282678|282681|282686|282687|282689|282702|282704|282709|282714|282715|282716|282717|282721|282723|282725|282726|282735|282736|282738|282743|282744|282751|282753|282758|282759|282763|283409|283412|283413|283414|283416|283419|283431|283433|283450|283453|283455|283458|283460|283461|283462|283464|283471|283473|283475|283476|283477|283478|283484|283485|283488|283489|283498|283501|283503|283506|283507|283508|283510|283513|283514|283519|283521|283528|283533|283538|283563|283569|283575|283577|283578|283580|283582|283583|283591|284920|284939|284940|284941|284942|284946|284949|284951|284965|284966|284967|284970|284971|284981|284983|284984|284985|284987|284990|284997|284999|285007|285009|285017|285045|285049|285056|285059|285068|285078|285081|285082|285083|285093|285096|285101|285104|285105|285106|285108|285109|285114|285445|285446|285447|285448|285450|285454|285455|285456|285459|285467|285489|285490|285505|285510|285511|285514|285515|285517|285518|285519|285537|285542|285545|285547|285548|285551|285562|285566|285571|285573|285599|285601|285605|285609|285615|285616|285618|363856|366196|499026|508774|536617|550350|552056|614161|614162|622317|672033|672034|672035|697149|697150|707841|719389|719390|719393|719394|719395|719396|719398|719399|719402|719404|732911|732917|732920|732921|732923|732926|732927|732932|743847|746917|746930|746932|746936|746937|746938|762404|762413|780950|800666|881431|881432|881433|881434|881435|881436|881437|881438|881439|881440|881441|881442|881443|881444|881445|881446|881447|881448|881449|881450|881451|881452|881453|881454|881455|881456|881457|881458|881459|881460|881461|881462|881463|881464|881465|881466|881467|881468|881469|881470|881471|881472|881473|881474|881475|881476|881477|881478|881479|881480|881481|881482|881483|881484|881485|881486|881487|881488|881489|881490|881491|881492|881493|881494|881495|881496|881497|881498|881499|881500|881501|881502|881503|881504|881505|881506|881507|881508|881509|881510|881511|881512|881513|881514|881515|881516|881517|881518|881519|881520|881521|881522|881523|881524|881525|881526|881527|881528|881529|882831|882832|882833|882834|882835|882836|882837|882838|882839|882840|882841|882842|975855|983790", + "text": "Donnai-Barrow syndrome" + }, + { + "baseId": "24497|24498|24499|24500|24501|24502|24503|24504|24505|24506|24508|24509|24510|24511|106628|336911|350787|350794", + "text": "Leukocyte adhesion deficiency" + }, + { + "baseId": "24497|24502|24508|24510|79106|79107|106609|106610|106611|106612|106613|106614|106615|106616|106617|106618|106619|106620|106621|106622|106623|106624|106625|106626|106627|106628|106629|106630|336913|336915|336919|336922|336925|336929|336932|336941|336943|346618|346621|346623|346628|346637|346638|346639|346640|346645|346646|346647|346650|346651|346657|346661|346662|346667|346668|346678|350790|350791|350795|350798|350799|350802|350803|350806|350807|350810|350811|350814|350815|350818|350820|350821|351833|351836|351837|351839|351841|351842|351845|351848|351850|351852|351854|351856|351858|351859|351861|351863|351865|379792|438819|469701|470747|470762|470763|471244|471712|471713|533940|533946|533955|533958|533960|533965|533968|533970|533995|533996|533998|534008|534009|534018|534479|534481|534484|534490|534505|571609|571611|573166|573167|573851|575184|575185|575186|575187|612110|614151|614483|620673|624694|649045|649046|649047|649048|649049|649050|649051|649052|649053|649054|649055|649056|649057|649058|649059|649060|649061|649062|649063|649064|649065|649066|649067|649068|653672|705738|705739|717255|717256|717257|717258|728959|728963|731384|742692|742693|742695|742696|742697|742698|742699|745350|757875|757876|757878|757880|757881|757882|760970|773388|773391|773392|773393|773396|776756|780013|786528|786529|786530|786531|792011|848882|848883|848884|848885|848886|848887|848888|848889|848890|848891|848892|848893|848894|848895|848896|848897|848898|848899|848900|848901|848902|848903|848904|848905|848906|848907|848908|848909|848910|886897|886898|886899|886900|886901|886902|886903|886904|886905|886906|886907|886908|886909|886910|886911|886912|886913|886914|886915|886916|886917|886918|886919|886920|886921|886922|886923|886924|887517|887518|887519|887520|887521|919938|929351|929352|929353|929354|929355|929356|929357|929358|929359|939142|939143|939144|939145|939146|939147|939148|939149|939150|939151|939152|940519|951271|951272|951273|951274|951275|951276|951277|951278|951279|951280|951281|958993|958994|958995|958996|958997|958998|960328", + "text": "Leukocyte adhesion deficiency 1" + }, + { + "baseId": "24512|24513|24514|24515|24516|24517|24518|24519|24520|24521|85648|166115|195931|205138|238008|250820|250822|268269|268388|269508|272579|273132|275245|287781|287782|287783|287785|287787|287792|287794|287797|288447|288449|288463|288467|288469|288471|288481|288483|291338|291346|291347|291355|291360|291361|291364|291365|291376|291392|291402|291414|291490|291504|291511|291512|291513|291514|291515|291522|291524|361607|363947|413546|488680|490192|551526|589204|590440|677413|720023|733648|747843|788757|788758|788759|800351|800482|818219|818220|827188|827202|856226|885756|885757|885758|885759|885760|885761|885762|885763|885764|885765|885766|885767|885768|885769|885770|885771|885772|885773|885774|885775|885776|885777|885778|885779|885780|885781|885782|887421|887422|887423|976714|976715|976716|976717|977194", + "text": "Achromatopsia 2" + }, + { + "baseId": "24513|24517", + "text": "Monochromacy" + }, + { + "baseId": "24520", + "text": "Photophobia" + }, + { + "baseId": "24520|188865|513965|514039", + "text": "Abnormality of color vision" + }, + { + "baseId": "24522|24523|24524|24526|24527|24528|24529|24531|24532|24533|24534|24535|24537|24538|24542|24544|24545|32963|227328|306295|306296|306303|306308|306310|306318|306320|306321|306326|306329|306343|306344|306353|306354|306357|306358|306363|306364|306367|306368|306369|306373|306375|306376|306383|306386|306387|306388|306398|306400|306401|306402|310412|310418|310419|310421|310423|310425|310427|310430|310433|310442|310443|310444|310448|310453|310454|310462|310465|310471|310472|310475|310477|310490|310491|310492|310493|310494|310510|310512|310525|310526|310527|310528|310532|310533|310534|310537|310542|310543|310546|310555|315754|315756|315758|315759|315760|315767|315768|315769|315770|315772|315773|315787|315802|315803|315810|315817|315818|315819|315830|315832|315834|315839|315840|315846|315847|315848|315849|315864|315865|315868|315869|315870|315871|315879|315880|315883|315884|315885|315886|315889|315897|315910|315911|315912|315914|315918|315919|315922|315933|315940|315945|315952|315958|315959|315961|315962|315964|315965|315966|315970|315973|315974|315985|315994|315996|315997|315998|316002|316005|316008|316013|316020|316024|316037|316038|316083|316087|316091|316093|316106|316109|316110|316122|316130|316131|316134|316137|316138|316139|316140|316141|316143|353848|361192|487348|487351|487359|539017|620314|900690|900691|900692|900693|900694|900695|900696|900697|900698|900699|900700|900701|900702|900703|900704|900705|900706|900707|900708|900709|900710|900711|900712|900713|900714|900715|900716|900717|900718|900719|900720|900721|900722|900723|900724|900725|900726|900727|900728|900729|900730|900731|900732|900733|900734|900735|900736|900737|900738|900739|900740|900741|900742|900743|900744|900745|900746|900747|900748|900749|900750|900751|900752|900753|900754|900755|900756|900757|900758|900759|900760|900761|900762|903280|903281|903282|903283|903284|903285|903286|903287", + "text": "Tangier disease" + }, + { + "baseId": "24525|24540|24541|24542|24543|24545|227328|306296|306303|306308|306310|306318|306320|306321|306329|306343|306344|306353|306357|306358|306363|306367|306368|306373|306375|306376|306383|306386|306387|306388|306398|306400|306401|306402|310412|310419|310421|310423|310425|310427|310430|310433|310443|310444|310453|310454|310462|310471|310472|310475|310477|310490|310491|310492|310493|310494|310510|310512|310525|310526|310527|310528|310532|310533|310534|310537|310542|310543|310546|312407|312417|312421|312422|312424|315754|315756|315758|315759|315760|315767|315769|315770|315772|315773|315787|315802|315810|315817|315818|315819|315830|315832|315834|315839|315840|315846|315847|315848|315849|315864|315865|315868|315869|315870|315871|315879|315880|315883|315884|315885|315886|315889|315897|315910|315911|315912|315914|315918|315919|315933|315940|315945|315952|315958|315959|315961|315962|315964|315966|315970|315973|315974|315985|315994|315996|315997|315998|316002|316005|316008|316013|316020|316024|316037|316038|316083|316087|316091|316093|316106|316110|316122|316130|316131|316134|316137|316139|316140|316141|318297|318298|324450|325163|325164|325168|325178|487348|487351|487359|495696|620314|621343|867058|867059|867060|867061|867062|867063|867064|900690|900691|900692|900693|900694|900695|900696|900697|900698|900699|900700|900701|900702|900703|900704|900705|900706|900707|900708|900709|900710|900711|900712|900713|900714|900715|900716|900717|900718|900719|900720|900721|900722|900723|900724|900725|900726|900727|900728|900729|900730|900731|900732|900733|900734|900735|900736|900737|900738|900739|900740|900741|900742|900743|900744|900745|900746|900747|900748|900749|900750|900751|900752|900753|900754|900755|900756|900757|900758|900759|900760|900761|900762|903280|903281|903282|903283|903284|903285|903286|903287", + "text": "Familial hypoalphalipoproteinemia" + }, + { + "baseId": "24529|310464|620315", + "text": "ABCA1-Related Disorders" + }, + { + "baseId": "24539", + "text": "Tangier disease, variant" + }, + { + "baseId": "24545", + "text": "Coronary heart disease in familial hypercholesterolemia, protection against" + }, + { + "baseId": "24546", + "text": "ABCA1 polymorphism" + }, + { + "baseId": "24547|24548|24549|29201|29202|39402|102915|138566|138574|138577|138578|139303|194832|204470|204470|206802|238283|238284|249937|249938|251049|251050|271109|280611|280612|280613|280618|280620|280621|280626|280633|281072|281085|281098|281111|281129|281130|281131|281132|281134|281135|281136|281137|281138|282362|282363|282382|282383|282387|282391|282396|282399|282408|282416|282417|282418|282610|282612|282613|282614|282636|282657|282661|282675|282676|289675|290421|290423|290426|290431|290438|290439|293516|293520|293523|294064|294090|294091|391248|448099|448140|448238|489136|493110|515914|516009|557065|557282|558519|611368|620123|733942|763773|788762|861070|888486|888487|888488|888489|888490|888491|888492|888493|888494|888495|888496|891629|918818|964106", + "text": "Thrombocythemia 1" + }, + { + "baseId": "24554|24555|24556|24557|38979|38980|38981|38982|38983|188073|188074|188075|273103|273131|329582|329583|329584|329585|329586|336193|336206|336207|338097|338104|338106|491931|535705|552178|654138|791415|800363|871960|871961|871962|871963|871964|871965|871966|871970", + "text": "Syndromic microphthalmia type 5" + }, + { + "baseId": "24562|24563|24564|24565|84382|278463|278465|278473|278474|278476|278482|278488|278490|278491|278494|278498|278499|278504|278511|278571|278573|278581|278582|278583|278596|278597|278599|278602|278603|278604|278606|278608|278628|278637|279755|279756|279757|279766|279768|279776|279777|279843|279861|279870|279895|279904|279905|279919|279923|279924|279927|279932|279933|279934|279940|279941|447437|447562|549510|549513|549514|549515|549517|619984|620712|620713|696400|707004|707005|718544|718546|718547|863312|863313|863314|863315|863316|863317|863318|863319|863320|863321|863322|863323|863324|863325|863326|863327|863328|863329|863330|865095|865096|952217", + "text": "Chitotriosidase deficiency" + }, + { + "baseId": "24566|24567|24568|24569|24570|24571|106762|106764|353887|414768|920138", + "text": "Pelger-Hu\u00ebt anomaly" + }, + { + "baseId": "24566|414768|536125|536126|536127|536128", + "text": "Regressive spondylometaphyseal dysplasia" + }, + { + "baseId": "24568|24572|106762|106763|106764|106765|215191|226718|226719|237384|249738|249740|249741|279344|279348|279353|279356|279357|279363|279368|279371|279372|279375|279551|279553|279559|279560|279561|279576|279578|279583|279584|279585|279587|279588|279589|279591|279594|279595|279596|280852|280853|280856|280859|280861|280862|280864|280865|280867|280959|280960|280994|280995|280996|281003|281007|414768|576522|718690|718691|732185|732188|743720|746178|758868|758871|758875|863760|863761|863762|863763|863764|863765|863766|863767|863768|863769|863770|863771|863772|863773|863774|863775|863776|863777|863778|863779|863780|863781|863782|863783|863784|863785|863786|863787|865131|865132", + "text": "Greenberg dysplasia" + }, + { + "baseId": "24572|414768", + "text": "Reynolds syndrome" + }, + { + "baseId": "24576", + "text": "Neurofibrosarcoma" + }, + { + "baseId": "24577", + "text": "Opioid dependence 1" + }, + { + "baseId": "24577", + "text": "naloxone response - Efficacy" + }, + { + "baseId": "24577", + "text": "alfentanil response - Dosage, Efficacy, Metabolism/PK" + }, + { + "baseId": "24577", + "text": "buprenorphine response - Dosage, Efficacy, Metabolism/PK" + }, + { + "baseId": "24577", + "text": "Drugs used in opioid dependence response - Dosage, Efficacy, Metabolism/PK" + }, + { + "baseId": "24577", + "text": "fentanyl response - Dosage, Efficacy, Metabolism/PK" + }, + { + "baseId": "24577", + "text": "heroin response - Dosage, Efficacy, Metabolism/PK" + }, + { + "baseId": "24577", + "text": "morphine response - Dosage, Efficacy, Metabolism/PK" + }, + { + "baseId": "24577", + "text": "opioids response - Dosage, Efficacy, Metabolism/PK" + }, + { + "baseId": "24577", + "text": "tramadol response - Dosage, Efficacy, Metabolism/PK" + }, + { + "baseId": 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+ "text": "Tramadol response" + }, + { + "baseId": "24578|134241|134242|134243|134244|134245|134246|207948|254503|254506|254508|254511|254513|254514|372263|372283|408647|408648|408650|415333|429414|429415|441540|444994|462151|462152|462156|462158|462401|462439|462444|462940|462946|463053|463061|463065|463072|463079|463081|463086|504415|527138|527144|527146|527167|527415|527628|527630|527634|527655|527657|565447|565457|565463|566829|566830|566832|568041|571844|571850|641112|641113|641114|641115|641116|641117|641118|641119|641120|641121|641122|641123|641124|641125|641126|652247|652709|693204|693205|693206|693207|693208|693209|695568|702306|702308|702310|738634|738635|753355|769113|784384|791233|820503|839887|839888|839889|839890|839891|839892|839893|839894|839895|839896|839897|839898|839899|839900|839901|839902|839903|926616|926617|926618|926619|926620|926621|926622|936112|948005|948006|948007|948008|948009|948010|948011|948012|956863|956864|956865|956866|956867", + "text": "Myopathy, congenital, compton-north" + }, + { + "baseId": "24579|24580|24581|24582|24583|24584", + "text": "Bare lymphocyte syndrome type 2, complementation group A" + }, + { + "baseId": "24586|140349|140350|140351|140352|166021|171118|171119|171120|171121|171122|171123|178613|178614|188478|188483|188484|188485|188486|188487|188488|188489|188490|188492|189313|189314|189317|189319|195796|212762|212763|221941|224385|240754|240755|240757|240758|253715|253716|253717|258637|258639|258640|309994|315000|315012|315013|321050|321601|321602|321615|362738|389940|397186|397187|397192|397410|397576|397579|397589|397744|397748|397751|404786|407836|407843|425869|459742|459744|459745|459920|460191|460631|460636|510159|512837|512838|512839|525047|525049|525055|525237|525244|525245|525248|525251|525253|525256|525258|525353|525366|525368|525374|525548|525550|525552|525553|551709|563648|563650|563655|564535|566221|566224|566235|569585|569593|638822|638823|638824|638825|638826|638827|653950|684166|687612|687613|687614|689977|689978|692821|767689|783579|820200|836745|836746|836747|836748|836749|836750|836751|836752|836753|836754|836755|852239|925779|925780|935003|935004|940953|946850|946851|946852|946853|956025|956026|956027|956028|956029|961005", + "text": "Brugada syndrome 4" + }, + { + "baseId": "24587", + "text": "Ataxia, progressive seizures, mental deterioration, and hearing loss" + }, + { + "baseId": "24587|24588|24592|24595|24598|24601|24602|24605|24608|24610|24611|24612|24615|24618|24619|24620|24623|24625|24627|24628|24628|24629|24629|24630|24631|24632|24633|24634|24635|24636|24637|24639|24640|24642|24643|24644|24647|24649|24652|24654|24655|24656|24657|24661|24664|24731|24738|24739|24740|24741|24742|24748|24772|24773|24774|38956|38959|38960|51394|51395|51396|51397|51398|51399|51400|153627|153628|153630|165629|165633|188274|189167|224979|231301|236823|236830|236832|236833|236834|237048|237121|237180|237206|354290|354298|354302|363842|363861|433992|434696|434780|497359|610271|672123|677483|677484|677485|677486|677487|677488|677489|677490|677491|677492|677493|677494|677495|677496|677497|677498|677499|677500|677501|677502|677503|677504|677505|677506|677507|677508|677509|677510|677511|677512|677513|677514|677515|677516|677517|677518|677519|677520|677521|677522|677523|677524|677525|677526|677527|677528|677529|677530|677531|677532|677533|677534|677535|677536|677537|677538|677539|677540|677541|677542|677543|677544|677545|677546|677547|677548|677549|677550|677551|677552|677553|677554|677555|677556|677557|677558|677559|677560|677561|677562|677563|677564|677565|677566|677567|677568|677569|677570|677571|677572|677573|677574|677575|677576|677577|677578|677579|677580|677581|677582|677583|677584|677585|677586|677587|677588|677589|677590|677591|677592|677593|677594|677595|677596|677597|677598|677599|677600|677601|677602|677603|677604|677605|677606|677607|677608|677609|677610|677611|677612|677613|677614|677615|677616|677617|677618|677619|677620|677621|677622|677623|677624|677625|677626|677627|677628|677629|677630|677631|677632|677633|677634|677635|677636|677637|677638|677639|677640|677641|677642|677643|677644|677645|677646|677647|677648|677649|677650|677651|677652|677653|677654|677655|677656|677657|677658|677659|677660|677661|677662|677663|677664|677665|677666|677667|677668|677669|677670|677671|677672|677673|677674|677675|677676|677677|677678|677679|677680|677681|677682|677683|677684|677685|677686|677687|677688|677689|677690|677691|677692|677693|677694|677695|677696|677697|677698|677699|677700|677701|677702|677703|677704|677705|677706|677707|677708|677709|677710|677711|677712|677713|677714|677715|677716|677717|677718|677719|677720|677721|677722|677723|677724|677725|677726|677727|677728|677729|677730|677731|677732|677733|677734|677735|677736|677737|677738|677739|677740|677741|677742|677743|677744|677745|677746|677747|677748|677749|677750|677751|677752|677753|677754|677755|677756|677757|677758|677759|677760|677761|677762|677763|677764|677765|677766|677767|677768|677769|677770|677771|677772|677773|677774|677775|677776|677777|677778|677779|677780|677781|677782|677783|677784|677785|677786|677787|677788|677789|677790|677791|677792|677793|677794|677795|677796|677797|677798|677799|677800|677801|677802|677803|677804|677805|677806|677807|677808|677809|677810|677811|677812|677813|677814|677815|677816|677817|677818|677819|677820|677821|677822|677823|677824|677825|677826|677827|677828|677829|677830|677831|677832|677833|677834|677835|677836|677837|677838|677839|677840|677841|677842|677843|677844|677845|677846|677847|677848|677849|677850|677851|677852|677853|677854|677855|677856|677857|677858|677859|677860|677861|677862|677863|677864|677865|677866|677867|677868|677869|677870|677871|677872|677873|677874|677875|677876|677877|677878|677879|677880|677881|677882|677883|677884|677885|677886|677887|677888|677889|677890|677891|677892|677893|677894|677895|677896|677897|677898|677899|677900|677901|677902|677903|677904|677905|677906|677907|677908|677909|677910|677911|677912|677913|677914|677915|677916|677917|677918|677919|677920|677921|677922|677923|677924|677925|677926|677927|677928|677929|677930|677931|677932|677933|677934|677935|677936|677937|677938|677939|677940|677941|677942|677943|677944|677945|677946|677947|677948|677949|677950|677951|677952|677953|677954|677955|680402|680406|680616|680882|680963", + "text": "Juvenile myopathy, encephalopathy, lactic acidosis AND stroke" + }, + { + "baseId": "24588|45818|181416|181420|181426|181450|679707|679709", + "text": "Neonatal death" + }, + { + "baseId": "24589", + "text": "Exercise intolerance and complex III deficiency, somatic" + }, + { + "baseId": "24590|24591|24638|424215", + "text": "Kearns Sayre syndrome" + }, + { + "baseId": "24592", + "text": "Focal segmental glomerulosclerosis and dilated cardiomyopathy" + }, + { + "baseId": "24593|24594|38960|354305|550203|550204|980879", + "text": "Mitochondrial encephalopathy" + }, + { + "baseId": "24595|24617|24626|24656|24664|33288|142556|142557|142560|142561|142562|152778|172075|172076|211588|217217|229075|354293|503924|612469|679205|738547", + "text": "Mitochondrial myopathy" + }, + { + "baseId": "24596", + "text": "Neurogastrointestinal syndrome, mitochondrial" + }, + { + "baseId": "24597", + "text": "Encephalocardiomyopathy, mitochondrial" + }, + { + "baseId": "24599", + "text": "Cerebellar ataxia, cataract, and diabetes mellitus" + }, + { + "baseId": "24599|54805|54812|54826|54839|54842|55037|55056|55057|55078|55102|55120|55143|55167|55193|55205|55236|55237|55245|55653|55658|172769|174544|175230|175287|175289|247044|253830|278929|278958|279100|280392|280397|280424|289918|293005|293389|293396|293404|293405|295655|310529|310535|310662|310741|310742|310745|315636|315674|315906|315931|315967|315972|316006|316010|316044|316047|316048|316100|316153|321656|322088|322101|322102|322105|322106|322108|322109|322395|322646|322651|322653|322702|322713|322714|322725|322726|325652|328178|329416|329796|336966|340100|340101|347193|353204|353205|353453|790978|790979", + "text": "Retinitis pigmentosa-deafness syndrome" + }, + { + "baseId": "24600|24601|24619|24628|24649", + "text": "MERRF/MELAS overlap syndrome" + }, + { + "baseId": "24601|51396", + "text": "Mitochondrial cytochrome c oxidase deficiency" + }, + { + "baseId": "24602|32054|32066|32076|243935|487604", + "text": "Palmoplantar keratoderma-deafness syndrome" + }, + { + "baseId": "24602|24604|24605|24607|24642|24667|24667|24669|24670|24671|24672|24673|24702|38953|38959|48657|49378|51396|143262|619823|619824", + "text": "Deafness, nonsyndromic sensorineural, mitochondrial" + }, + { + "baseId": "24608", + "text": "Exercise intolerance, muscle pain, and lactic acidemia" + }, + { + "baseId": "24611", + "text": "MERFF syndrome" + }, + { + "baseId": "24613|24618|24619|24620|24624|24628|24629|24630|24742", + "text": "MERRF syndrome" + }, + { + "baseId": "24614", + "text": "Myopathy, mitochondrial, late-onset" + }, + { + "baseId": "24615|24616", + "text": "Epilepsy, mitochondrial" + }, + { + "baseId": "24620", + "text": "Cardiomyopathy and Deafness" + }, + { + "baseId": "24621", + "text": "Progressive external ophthalmoplegia with myoclonus" + }, + { + "baseId": "24622|28542|28544|31692|31693|31694|31695|31696|31697|31698|31699|31700|31701|31702|31703|31704|31705|136139|136140|141573|141574|141575|141576|141579|141581|141582|141583|142784|142785|142787|142788|142789|142791|203044|211973|211976|211980|211983|211984|211989|211990|211991|224729|224731|224732|224733|224736|224738|224739|224740|224742|224743|224744|224745|224746|224747|224748|224749|224750|224751|224754|224755|224756|224757|224758|224761|224763|224764|224765|224766|224768|224769|224771|224773|224774|224775|224776|224777|224778|224779|224780|224781|224782|224783|224787|224788|224789|224790|224792|224793|224794|224795|224796|224797|224798|224799|224800|224801|224802|224803|224804|224805|224806|224808|224810|224811|224812|224813|257713|338584|338585|338593|338597|338599|338601|338602|348160|348167|348174|348175|348177|351827|351828|351830|351831|351832|351834|351835|351838|351840|352680|352681|352682|352683|352684|352685|434129|434130|508218|549170|549172|620930|682368|816497|891503|891504|891505|891506|891507|891508|891509", + "text": "Mitochondrial DNA depletion syndrome 1 (MNGIE type)" + }, + { + "baseId": "24623|24628|24656|262350", + "text": "Diabetes-deafness syndrome maternally transmitted" + }, + { + "baseId": "24625|24633|24662|24719|38955|38962|48423|48430|76995", + "text": "Mitochondrial encephalomyopathy" + }, + { + "baseId": "24627|550141|550142|550143|550144|550145|550146|550147", + "text": "Cardiomyopathy, mitochondrial" + }, + { + "baseId": "24628", + "text": "Muscle stiffness, painful" + }, + { + "baseId": "24628", + "text": "Cyclical vomiting syndrome" + }, + { + "baseId": "24628|32059|176723|186432|236877|263185|263248|354294|359177|359178|360876|361080|437859|508754|508758|513902|513971|550163|551445|578007|581736|612033|614154|623104|623105|623106|623107|623607|679341|682750|682755|682761|682863|857409|857412|857413|857415|859391|961221|961433|965405", + "text": "Sensorineural hearing loss" + }, + { + "baseId": "24628", + "text": "Glucose intolerance" + }, + { + "baseId": "24630", + "text": "Diabetes mellitus, noninsulin-dependent, maternally transmitted" + }, + { + "baseId": "24631|24635", + "text": "Cardiomyopathy with or without skeletal myopathy" + }, + { + "baseId": "24632", + "text": "Skeletal myopathy, responsive to riboflavin" + }, + { + "baseId": "24634", + "text": "Progressive external ophthalmoplegia, proximal myopathy, and sudden death" + }, + { + "baseId": "24637", + "text": "Neuropsychiatric disorder and early-onset cataract" + }, + { + "baseId": "24639|27386|27395|27641|27642|27652|28938|28940|29755|38666|38677|39943|48247|48938|48939|48940|166215|172332|205216|216786|216787|236469|239104|242980|362755|362759|362760|362761|362768|362770|362771|362772|362866|362867|362868|362903|362904|362905|363412|363531|393498|393500|393746|428133|452262|539096|539097|578573|919910|964095|976556", + "text": "Myelodysplastic syndrome" + }, + { + "baseId": "24640", + "text": "Cardiomyopathy, fatal infantile" + }, + { + "baseId": "24641", + "text": "Cardiomyopathy, fatal" + }, + { + "baseId": "24643|24722", + "text": "Multisystem disorder" + }, + { + "baseId": "24644", + "text": "Encephalopathy, familial progressive necrotizing" + }, + { + "baseId": "24645|45304|51954|179175|963070|963071", + "text": "Asymmetric septal hypertrophy" + }, + { + "baseId": "24646", + "text": "Hypertension, hypercholesterolemia, and hypomagnesemia, mitochondrial" + }, + { + "baseId": "24647", + "text": "Cardiomyopathy, idiopathic dilated, mitochondrial" + }, + { + "baseId": "24647", + "text": "Cardiomyopathy, hypertrophic, mitochondrial" + }, + { + "baseId": "24648", + "text": "Pigmentary retinopathy and sensorineural deafness" + }, + { + "baseId": "24651|24717|24718|24720|24721", + "text": "Exercise intolerance" + }, + { + "baseId": "24652|259847|354290|515677", + "text": "Sudden death" + }, + { + "baseId": "24654", + "text": "Sensorineural deafness and migraine" + }, + { + "baseId": "24656", + "text": "Myopathy, mitochondrial, with diabetes mellitus" + }, + { + "baseId": "24657|24696|24717|24718|24720|24722|38958|680328|680382|680897|680908|681121|681160|681253|681497", + "text": "Mitochondrial myopathy, infantile, transient" + }, + { + "baseId": "24658", + "text": "Mitochondrial myopathy, isolated" + }, + { + "baseId": "24659|24660", + "text": "Ophthalmoplegia, isolated" + }, + { + "baseId": "24661", + "text": "MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2" + }, + { + "baseId": "24663", + "text": "Myotonic dystrophy-like myopathy" + }, + { + "baseId": "24665|24666", + "text": "Chloramphenicol resistance" + }, + { + "baseId": "24667|24667|24668|24670|24671|24673|24702", + "text": "Aminoglycoside-induced deafness" + }, + { + "baseId": "24667|27463|27463|27465|44675|44676|52080|52190|53659|54077|54949|99318|100371|172503|175451|175624|175645|176070|176073|176208|176214|178557|178683|178685|178749|258510|403833|438509|457357|535269|540432|540433|609028|679387|679431|679432|679472|828189", + "text": "Restrictive cardiomyopathy" + }, + { + "baseId": "24667|24670|24671", + "text": "aminoglycoside antibacterials response - Toxicity/ADR" + }, + { + "baseId": "24667|24670|24671", + "text": "amikacin response - Toxicity/ADR" + }, + { + "baseId": "24667|24670|24671", + "text": "gentamicin response - Toxicity/ADR" + }, + { + "baseId": "24667|24670|24671", + "text": "kanamycin response - Toxicity/ADR" + }, + { + "baseId": "24667|24670|24671", + "text": "neomycin response - Toxicity/ADR" + }, + { + "baseId": "24667|24670|24671", + "text": "streptomycin response - Toxicity/ADR" + }, + { + "baseId": "24667|24670|24671", + "text": "tobramycin response - Toxicity/ADR" + }, + { + "baseId": "24667|24671|24673", + "text": "Gentamicin response" + }, + { + "baseId": "24670", + "text": "Auditory neuropathy" + }, + { + "baseId": "24677", + "text": "Brain pseudoatrophy, reversible, valproate-induced, susceptibility to" + }, + { + "baseId": "24678", + "text": "Cardiomyopathy, apical hypertrophic, and neuropathy" + }, + { + "baseId": "24679", + "text": "Cardiomyopathy, infantile hypertrophic" + }, + { + "baseId": "24679|24723|188131|248609", + "text": "Histiocytoid cardiomyopathy" + }, + { + "baseId": "24680|24681|24687|576199|681583", + "text": "NARP syndrome" + }, + { + "baseId": "24680|24681|24683|24686|24689", + "text": "Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1" + }, + { + "baseId": "24681", + "text": "Ataxia and polyneuropathy, adult-onset" + }, + { + "baseId": "24682|24690|24691|24702|24713|24714|24727|24728|24729|24730|24732|24735|24736|24739|24742|24743|24746|24747|24749|24750|24755|24756|24757|24761|24762|24763|24764|24766|24771|24772|24775|38954|76416|76417|76418|76419|76420|76421|76422|76423|76424|76425|76426|76427|76428|76829|237206|354298|424207|513236|514149|576199|677958|980887|983838", + "text": "Leber's optic atrophy" + }, + { + "baseId": "24683|24684", + "text": "Striatonigral degeneration, infantile, mitochondrial" + }, + { + "baseId": "24685", + "text": "Seizures and lactic acidosis" + }, + { + "baseId": "24693", + "text": "Mitochondrial complex IV deficiency with recurrent myoglobinuria" + }, + { + "baseId": "24703|24704", + "text": "Sideroblastic anemia, acquired idiopathic" + }, + { + "baseId": "24708", + "text": "Myoglobinuria, recurrent" + }, + { + "baseId": "24709|24710", + "text": "Cytochrome c oxidase i deficiency" + }, + { + "baseId": "24724", + "text": "Exercise intolerance, cardiomyopathy, and septooptic dysplasia" + }, + { + "baseId": "24725", + "text": "Parkinsonism/MELAS overlap syndrome" + }, + { + "baseId": "24728|24729|24749|24754|24772", + "text": "Leber optic atrophy and dystonia" + }, + { + "baseId": "24728|24733|24737|24739|24740|24741|24742|24760", + "text": "Leigh syndrome due to mitochondrial complex I deficiency" + }, + { + "baseId": "24733", + "text": "Striatal necrosis, bilateral, with dystonia" + }, + { + "baseId": "24751|24753|24754", + "text": "Mitochondrial complex 1 deficiency, mitochondrial type 1" + }, + { + "baseId": "24752", + "text": "Parkinson disease, resistance to" + }, + { + "baseId": "24761|24770", + "text": "MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3" + }, + { + "baseId": "24769", + "text": "Dystonia, adult-onset" + }, + { + "baseId": "24776|24777|24778|24779|24780|24781|24782|24783|24784|24785|24786|24787|24788|24789|24790|24791|24792|24793|24794|24795|380292|430955|472023|472025|485860|485861|535003|535213|650304|650305|694972|774283|929847", + "text": "46,XY sex reversal, type 1" + }, + { + "baseId": "24780", + "text": "46,XY true hermaphroditism, SRY-related" + }, + { + "baseId": "24796", + "text": "Spermatogenic failure, Y-linked 2" + }, + { + "baseId": "24797", + "text": "Hypospermatogenesis, nonobstructive, Y-linked" + }, + { + "baseId": "24798", + "text": "Mental retardation, X-linked 45" + }, + { + "baseId": "24801|24802|136291|136294|136295|209310|339622|339624|339626|339627|339629|349116|349119|352460|352461|352462|352463|352970|352971|352972|352973|352974|352975|404662|404663|446797|486665|513696|583141|903255|903256|903257|903258|903259|903260|903261|903262|920073|964637", + "text": "ZNF711-Related X-linked Mental Retardation" + }, + { + "baseId": "24803|24804|24805|24806|24807|24808|24809|24810", + "text": "McLeod neuroacanthocytosis syndrome" + }, + { + "baseId": "24811|24812|24813|24814|24815|24816|24817|38951|38952|134820|209093|248653|361245|362394|384427|424348|424677|446693|511020|513397|550656|583139|611453|611454|611455|622946|626322|653905|653906|678951|802237|804852|857381|861663|961360|961638|969302|971215|971216", + "text": "Mental retardation, syndromic, Claes-Jensen type, X-linked" + }, + { + "baseId": "24818", + "text": "X inactivation, familial skewed, 1" + }, + { + "baseId": "24819|24820|24821|339239|339251|339252|339255|339257|348762|348763|348766|348768|348774|348775|348776|348779|348780|352251|352252|352253|352254|352255|352256|352868|352869|352870|353866|470830|471559|471561|471884|471885|471889|472156|472157|492757|508273|508286|508580|508582|508674|508675|534820|534870|534883|534971|534973|534980|534981|534990|534998|535171|535172|535173|535174|535175|539114|572497|572500|574734|574736|575416|575417|650059|650060|650061|650062|650063|650064|650065|650066|650067|650068|650069|650070|650071|650072|650073|650074|653457|656779|689512|694888|694889|694890|694891|694893|694895|694897|706239|717794|743340|758506|758508|758510|760866|774062|774064|774065|774067|778703|786839|822225|850070|850071|850072|850073|850074|850075|850076|850077|850078|850079|852518|903063|903064|903065|903066|903067|903068|903475|903476|903477|920028|920029|929736|929737|929738|929739|929740|939601|939602|939603|939604|939605|951808|951809|959307|959308", + "text": "Spinal muscular atrophy, X-linked 2" + }, + { + "baseId": "24822|24827|24828|24830|24832|24833|24834|24835|24836|24837|24838|24839|24840", + "text": "Thyroxine-binding globulin quantitative trait locus" + }, + { + "baseId": "24823", + "text": "Thyroxine-binding globulin, variant A" + }, + { + "baseId": "24823", + "text": "Thyroxine-binding globulin deficiency" + }, + { + "baseId": "24824", + "text": "Thyroxine-binding globulin, variant P" + }, + { + "baseId": "24825", + "text": "Thyroxine-binding globulin, slow" + }, + { + "baseId": "24826|24829", + "text": "Thyroxine-binding globulin deficiency, partial" + }, + { + "baseId": "24831", + "text": "Thyroxine-binding globulin, Chicago" + }, + { + "baseId": "24841|24842|24843|24843|24844|24845|24845|24846|24846|24847|24850|24852|24853|24854|24855|24858|24859|24862|24862|24864|24865|24866|24868|24868|24869|24869|24871|24876|24877|24878|24881|24887|24889|24889|24891|24892|24893|24895|24896|24897|24898|165510|165511|165512|165513|209141|213671|257865|260337|263527|265111|265114|265116|265118|265118|361102|390492|411438|411442|430877|430878|430883|430886|430887|442482|470430|470905|470914|470914|471654|471664|471928|471931|471937|471938|471939|471940|471942|471946|471947|471953|471954|471955|472174|472177|472178|472179|472181|472182|472183|472184|472185|485828|485829|485830|485831|485832|485833|485834|485835|485836|485837|485838|485839|485840|485841|485842|485843|485844|485845|485846|485847|485848|485849|485850|485850|485851|485852|485853|485854|485854|485855|485856|485857|485858|513400|534907|535186|535187|535188|538629|573952|573957|573960|574823|574825|575439|578598|578599|626300|650144|650145|650146|650147|650148|650149|650150|650151|650152|650153|650154|650155|650156|650157|653466|792488|792489|792592|850210|850211|850212|850213|850214|850215|850216|850217|850218|903655|929792|929793|929794|929795|939658|939659|939660|951861|951862|951863|959331|963207|967241|971226|975668|977309", + "text": "Androgen resistance syndrome" + }, + { + "baseId": "24843|24845|24846|24852|24857|24859|24862|24868|24869|24889|209141|260337|265114|265118|390492|404864|404865|404866|404867|411438|411442|430877|430878|430883|470430|470905|470914|471654|471664|471928|471937|471938|471939|471940|471942|471947|471953|471954|471955|472174|472178|472179|472181|472184|472185|485850|485854|534907|535186|535187|535188|573952|573957|573960|574823|574825|575439|650144|650145|650146|650147|650148|650149|650150|650151|650152|650153|650154|650155|650156|650157|653466|850210|850211|850212|850213|850214|850215|850216|850217|850218|929792|929793|929794|929795|939658|939659|939660|951861|951862|951863|959331", + "text": "Kennedy disease" + }, + { + "baseId": "24845|24863|24879|213671|390492|578598", + "text": "Hypospadias 1, X-linked" + }, + { + "baseId": "24845|24849|24852|24859|24861|24862|24868|24869|24880|24883|24884|24885|24886|24890|24896|24899|24900|213671|265055|390492|442482", + "text": "Partial androgen insensitivity syndrome" + }, + { + "baseId": "24867|578598", + "text": "Androgen insensitivity, partial, with breast cancer" + }, + { + "baseId": "24888|133488", + "text": "Prostate cancer susceptibility" + }, + { + "baseId": "24900|430423|653825|653826|653827|653828|653829", + "text": "TAFRO syndrome" + }, + { + "baseId": "24901|33863|404853", + "text": "X-linked dystonia-parkinsonism" + }, + { + "baseId": "24902|24903|24904|24905|971210", + "text": "Mental retardation, X-linked 96" + }, + { + "baseId": "24906|50325|50326|50327|102257|135832|135833|143086|143087|191103|191292|196342|204011|204012|204013|204016|204020|204022|204027|204029|204031|209054|209058|247196|415788|470837|470838|470840|470844|470848|470858|471566|471570|471574|471578|471595|471598|471600|471602|471891|472158|472159|486787|488164|490839|534439|534823|534889|534938|534999|572502|573885|574220|575418|575419|575420|650075|650076|650077|685013|689513|689514|758516|758517|774073|800411|816013|850080|850081|850082|850083|850084|850085|850086|850087|850088|851972|920030|920452|920453|921222|929741|929742|929743|929744|929745|939606|939607|939608|940563|951810|951811|951812|959309|960384|960385|960987|963980", + "text": "Epilepsy, X-linked, with variable learning disabilities and behavior disorders" + }, + { + "baseId": "24907", + "text": "Mental retardation, X-linked, with isolated growth hormone deficiency" + }, + { + "baseId": "24908|24909|919979", + "text": "Panhypopituitarism, X-linked" + }, + { + "baseId": "24911|45434|45435|45436|45437|76989|99002|189164|189165|189166|260556|260557|260558|260559|260560|260809|361265|384509|488077|623372|792518|921525|971233|980406|980407", + "text": "Short stature, idiopathic, X-linked" + }, + { + "baseId": "24912|24913|24914|24915|24916|24917|24918|24921|24922|24923|38949|38950|76989|550853", + "text": "Leri-Weill dyschondrosteosis" + }, + { + "baseId": "24913|24918|24919|24920|24923|38949", + "text": "Langer mesomelic dysplasia syndrome" + }, + { + "baseId": "24924", + "text": "SEROTONIN 5-HT-2C RECEPTOR POLYMORPHISM" + }, + { + "baseId": "24925|24926|24927|24928|24929|24930|24931|24932|24933|24934|24935|78963|104800|104813|104850|104869|104880|104887|104896|358692|358693|360557|537556|717750|729532|758416|758417|758418|773945|776904|786770|801469|851952|919998|919999|980974", + "text": "Juvenile retinoschisis" + }, + { + "baseId": "24934|104827|104828|104846|104849|104872|104884|800628", + "text": "Retinoschisis" + }, + { + "baseId": "24936|24937|24938|24939|24940|24941|24942|24943|24944|24945|24946|24947|24948|24949|24950|24959|24960|96865|104699|181395|192431|213666|265159|339211|339226|348750|348755|348757|352861|352864|418830|431819|431821|513165|551593|551595|551597|551599|551600|611982|611983|614094|792434|792457|792458|792459|800629|800631|800639|801477|802234|816012|856981|856982|856984|856985|856986|856987|856988|856989|856990|856991|856992|856993|856994|856995|856996|856997|856998|856999|857000|857001|857003|857004|857005|857006|857007|857008|857009|857010|857011|857012|857013|857014|857015|857016|857017|857018|857019|857021|857022|857023|857024|857025|857026|857027|857028|857029|857030|857031|857032|857033|857034|857035|857036|857037|857038|857061|860850|860857|920014|920015|920016|920450|920606|963400|963401|963402|963403|963404|963405|963406|963407|963408|963409|963410|963411|963412|963413|963414|963415|963416|963417|963418|963419|963420|963421|963422|963423|963424|963425|963426|963427|963428|963429|963430|963431|963432|963433|963434|964704|977317|977318|977319", + "text": "Retinitis pigmentosa 15" + }, + { + "baseId": "24949|24950|24953|24956|24957|104677|213666", + "text": "Cone-rod dystrophy, X-linked 1" + }, + { + "baseId": "24951", + "text": "Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness" + }, + { + "baseId": "24952|213666", + "text": "Macular degeneration, X-linked atrophic" + }, + { + "baseId": "24954|24955|24958", + "text": "Retinitis pigmentosa, X-linked, and sinorespiratory infections, with deafness" + }, + { + "baseId": "24961|38947|38948|430634|550375|580755|614102|792115|903701|903702|903703|903704|903705|964916", + "text": "Syndromic mental retardation, Nascimento type, X-linked" + }, + { + "baseId": "24962|24963|24964|24965|24966|257876|257880|339534|339538|339539|339541|349016|349017|349020|349021|349022|352423|352424|352427|352428|352429|352430|352431|352432|352441|352444|352445|352944|380120|426491|471723|508649|508697|573998|575448|614096|622498|650199|650200|650201|653543|821798|850258|850259|903177|903178|903179|903180|903181|903182|903183|903184|903185|903186|903187|903188|903189|903190|903191|903192|903193|903194|903195|903196|903197|903198|903199|903200|903201|903202|903203|903482|903656|920064|920065|929809|939677|951877|966352|971229", + "text": "Glycogen storage disease IXd" + }, + { + "baseId": "24967|24968|24969|24970|24971|24972|34175|99985|176313|338683|348278|348281|351934|351935|351938|351939|351942|351943|352709|352710|352711|439510|689320|792106|798778|902688|902689|902690|902691|902692|902693|902694|902695|902696", + "text": "Phosphoribosylpyrophosphate synthetase superactivity" + }, + { + "baseId": "24973|24974|106633|150246|150247|224828", + "text": "Charcot-Marie-Tooth disease, X-linked recessive, type 5" + }, + { + "baseId": "24974|25470|25471|25472|25474|25476|25477|25480|25481|25489|33933|33934|33936|33938|33939|34175|99985|140023|140025|140026|140027|140028|140029|165478|165480|167382|172155|176313|186290|186291|192187|211999|212000|212001|213497|213498|213499|213500|213501|213502|213890|213891|213892|213893|213894|222886|222887|231240|232146|232157|232161|243728|243739|243822|244166|245177|245178|245179|245180|245182|245184|245185|245187|245188|245189|338837|351935|352058|352942|360628|361105|377677|378903|379916|380117|404289|404290|404292|404296|404304|404306|404309|404439|404484|404594|404595|411470|411471|411472|411473|422511|433590|438582|442441|442442|442443|442446|442447|442450|442453|442454|442455|470975|470976|470989|470992|470996|470998|471000|471001|471256|471693|471708|471721|472031|472053|472198|472199|472200|472201|472202|507839|508250|508492|512743|534492|534507|534509|534600|534929|534951|534952|534953|534954|534956|534994|535064|535067|535069|535192|535193|535194|535195|537587|572564|572565|572569|572570|572572|572574|572576|572580|573989|573997|574881|574883|574885|575282|575325|575444|575445|575446|577977|585859|625455|625457|625474|625484|625488|625498|625499|625500|625501|625522|625531|625541|625542|625584|625598|625611|625648|625654|625681|625685|625704|649625|649669|649670|649671|649672|649673|649674|649675|649676|649677|649678|649679|649680|650193|650194|650195|650196|650197|653679|653735|653773|654959|656797|684944|685031|685032|689320|689321|689335|689550|690250|694766|694767|694768|717644|758294|760818|774195|774196|793893|800412|849543|849544|849603|849604|849605|849606|849607|849608|849609|849610|849611|849612|850241|850242|850243|850244|850245|850246|850247|850248|850249|850250|850251|850252|850253|850254|850255|850256|850257|902774|905514|929561|929562|929563|929802|929803|929804|929805|929806|929807|929808|939395|939423|939424|939425|939426|939672|939673|939674|939675|951590|951591|951592|951876|959163|959164|959165|959342|959343|959344", + "text": "Charcot-Marie-Tooth Neuropathy X" + }, + { + "baseId": "24975|24976|34173|34175|38944|99985|176313|224827|338683|348278|348281|351934|351935|351938|351939|351942|351943|352709|352710|352711|689320|789136|902688|902689|902690|902691|902692|902693|902694|902695|902696", + "text": "Arts syndrome" + }, + { + "baseId": "24977|24978|24979|24980|34175|99985|150245|150246|176313|224827|338683|348278|348281|351935|351938|351939|351942|352709|352710|352711|689320|902688|902689|902690|902691|902692|902693|902694|902695|902696", + "text": "Deafness, X-linked 1" + }, + { + "baseId": "24981|24982|24983|24985|24986|24987|24988|24989|24990|24991|24992|24993|24994|24995|446789|486498|538518|792510|800322|961795", + "text": "Phosphoglycerate kinase 1 deficiency" + }, + { + "baseId": "24984", + "text": "Phosphoglycerate kinase electrophoretic variant PGK II" + }, + { + "baseId": "24996|24997|24998|24999|25000|25001|25002|25003|25004|25005|49824|426413|471783|539098|961636", + "text": "Paroxysmal nocturnal hemoglobinuria 1" + }, + { + "baseId": "25006|143124|195862|204578|204579|424619|430793|572493|573876|650053|650054|731470|743324|743325|743327|778524", + "text": "Brunner syndrome" + }, + { + "baseId": "25007", + "text": "Antisocial behavior, susceptibility to" + }, + { + "baseId": "25007|361149", + "text": "Autism, severe" + }, + { + "baseId": "25008|25009|25010|25011|38942|99925|134550|181487|181492|208890|244025|438466|612431|792128|792129|961583|961584|961585", + "text": "Fragile X syndrome" + }, + { + "baseId": "25011|612430", + "text": "Fragile X tremor/ataxia syndrome" + }, + { + "baseId": "25011|166439|166440|166441|178175|612430", + "text": "Premature ovarian failure 1" + }, + { + "baseId": "25012|25013|25014|25015|25016|25017|25018|25019|25020|25021|25021|25022|25023|45103|45103|45104|53124|53582|53583|53590|53593|53594|53596|53597|53599|53600|53601|53603|53604|53605|53606|53609|53612|54739|141774|141775|176316|176318|176318|176319|176320|176322|176439|176440|176441|176443|176444|176734|178207|178762|179882|179884|179892|179893|179894|179894|179895|179899|179901|179906|179907|179911|231237|231245|231248|231249|243737|243738|259133|259136|259142|262413|338700|338709|338710|338713|338717|338721|338722|338724|338727|338736|338740|338742|338749|338751|348302|348304|348317|348321|348323|348325|348331|348332|348334|348335|348337|348341|348348|348349|348351|348353|348354|351976|351981|351982|351990|351991|351992|351993|351994|351995|351996|351997|352000|352001|352003|352005|352018|352019|352021|352717|352718|352719|352720|352721|352722|352723|352724|378857|378866|378957|379903|379904|404054|404057|404062|404085|404088|404092|404435|404436|404437|422409|446481|446483|446484|470451|470454|472048|472049|507816|510894|534395|534453|534456|534495|534515|535005|552241|572178|572180|573523|573527|574250|574251|574262|574264|574266|575322|623111|649649|649650|649651|649652|649653|649654|649655|649656|649657|653487|690249|695888|773724|773727|786689|821548|821549|849577|849578|849579|849580|849581|849582|849583|852459|852462|902707|902708|902709|902710|902711|902712|902713|902714|902715|902716|902717|902718|902719|902720|902721|902722|902723|902724|902725|902726|902727|902728|902729|902730|902731|902732|920434|929549|929550|929551|929552|929553|939410|939411|939412|939413|939414|939415|951580|951581|951582|959156|959157|959158|960358|960359", + "text": "Danon disease" + }, + { + "baseId": "25024|25025|25026|25029|25030|25032|25034|25040|38941|195889|208929|227923|263869|411165|426418|553161|677467|792151|792152|792153|792154|792155|792156|816043|964901|970135|976680", + "text": "X-linked hydrocephalus syndrome" + }, + { + "baseId": "25027|25028|25031|25032|25033|25034|538504|677467|969591|971188|976680|984267", + "text": "MASA syndrome" + }, + { + "baseId": "25029|170086|170088|208928|208929|430694", + "text": "Hydrocephalus due to aqueductal stenosis" + }, + { + "baseId": "25032|26446|70633|169564|421861|553412|578035|622834|964259|966700|966709|966710|966711|966720|966726|966727|966728|966729|966730|966731|966732|966736|976826", + "text": "Hydrops fetalis" + }, + { + "baseId": "25035|25037|25038", + "text": "Hydrocephalus, X-linked, with hirschsprung disease" + }, + { + "baseId": "25039", + "text": "Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction" + }, + { + "baseId": "25040|208929|432227|677467|976680", + "text": "Corpus callosum, partial agenesis of, X-linked" + }, + { + "baseId": "25041|25042|25043|25044|25045|25046|25047|25048|25049|25050|25051|25052|25053|25054|94235|150305|181584|226096|226097|227424|260344|362185|378676|380293|380294|417445|424680|430951|432348|471204|471776|471782|471784|472020|482267|508265|508443|508670|535108|550801|612201|653482|653796|678083|679937|679938|694953|694958|694960|694969|821801|821802|964638|964639", + "text": "Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)" + }, + { + "baseId": "25055|25056|25057|25058|25059|25060|25061|25062|25063|25064|25065|25067|45047|45048|45049|45050|45051|45052|227109|227110|227110|227111|244011|260341|264921|339520|349013|352389|352390|352409|352937|352938|352939|360655|379370|379505|411458|446742|470931|470934|470940|471671|471672|471963|471964|472030|472189|495906|534940|534946|535057|535189|535190|574877|574879|575442|575443|610408|613425|621696|621697|650166|650167|650168|650169|650170|650171|650172|653470|729694|731485|743454|743455|758630|758631|758632|774184|774186|774187|774188|774189|786893|786894|786895|786897|786898|786899|788377|792494|806254|822234|850225|850226|850227|850228|850229|903169|929797|929798|939662|939663|939664|939665|939666|941315|951867|951868|951869|951870|951871|959334|959335|959336|959337|960989|969202|980110|980492", + "text": "X-linked severe combined immunodeficiency" + }, + { + "baseId": "25062|25066|227110|227110|227111|379505|411458|980492", + "text": "Combined immunodeficiency, X-linked" + }, + { + "baseId": "25068|25069|25070|25077|25080|25081|25085|25086|25098|25099|25103|25112|25113|25114|25115|25118|25120|25123|38940|38940|177770|266922|534373|534530|574292|649709|649710|649711|653299|653438|653634|821558|849663|849664|851938|853027|951616", + "text": "Partial hypoxanthine-guanine phosphoribosyltransferase deficiency" + }, + { + "baseId": "25068", + "text": "HPRT ANN ARBOR" + }, + { + "baseId": "25069", + "text": "HPRT ARLINGTON" + }, + { + "baseId": "25070", + "text": "HPRT ASHVILLE" + }, + { + "baseId": "25071|25072|25073|25074|25075|25076|25078|25079|25082|25083|25084|25085|25085|25086|25086|25087|25088|25089|25090|25091|25092|25093|25094|25095|25096|25097|25099|25099|25101|25102|25104|25105|25106|25107|25108|25109|25110|25111|25116|25117|25119|25121|25122|38940|177770|177770|192197|266922|424675|534373|534530|551342|574292|649709|649710|649711|653299|653438|653634|792123|821558|849663|849664|851938|853027|951616", + "text": "Lesch-Nyhan syndrome" + }, + { + "baseId": "25071", + "text": "HPRT CHICAGO" + }, + { + "baseId": "25072", + "text": "HPRT CONNERSVILLE" + }, + { + "baseId": "25073", + "text": "HPRT DETROIT" + }, + { + "baseId": "25074", + "text": "HPRT EVANSVILLE" + }, + { + "baseId": "25075", + "text": "HPRT FLINT" + }, + { + "baseId": "25077", + "text": "HPRT LONDON" + }, + { + "baseId": "25078", + "text": "HPRT MICHIGAN" + }, + { + "baseId": "25079", + "text": "HPRT MIDLAND" + }, + { + "baseId": "25080", + "text": "HPRT MILWAUKEE" + }, + { + "baseId": "25081", + "text": "HPRT MUNICH" + }, + { + "baseId": "25082", + "text": "HPRT NEW BRITON" + }, + { + "baseId": "25083", + "text": "HPRT NEW HAVEN" + }, + { + "baseId": "25084", + "text": "HPRT YALE" + }, + { + "baseId": "25098", + "text": "HPRT TORONTO" + }, + { + "baseId": "25099", + "text": "HPRT FUJIMI" + }, + { + "baseId": "25100|38940", + "text": "Lesch-nyhan syndrome, neurologic variant" + }, + { + "baseId": "25100", + "text": "HPRT MONTREAL" + }, + { + "baseId": "25113", + "text": "HPRT URANGAN" + }, + { + "baseId": "25114", + "text": "HPRT TOOWONG" + }, + { + "baseId": "25115", + "text": "HPRT SWAN" + }, + { + "baseId": "25116", + "text": "HPRT CHERMSIDE" + }, + { + "baseId": "25117", + "text": "HPRT COORPAROO" + }, + { + "baseId": "25118", + "text": "HPRT EDINBURGH" + }, + { + "baseId": "25119", + "text": "HPRT TOKYO" + }, + { + "baseId": "25120", + "text": "HPRT MOOSE JAW" + }, + { + "baseId": "25121", + "text": "HPRT PARIS" + }, + { + "baseId": "25124|25125|25126|25127|25128|25129|25130|25131|25132|25133|25134|25135|25136|25137|25138|25139|25140|25141|25142|25144|25145|25146|25147|25148|25149|25150|25151|25152|25153|25154|25155|25156|25157|25158|25160|25161|25162|25163|25164|25165|25166|25167|25168|25169|25170|25171|25172|25173|25174|25175|25176|25177|25178|25179|25180|25181|25182|25183|25184|25185|25186|25187|25188|25189|25190|25191|25192|25193|25194|25195|25196|25197|25198|25199|25200|25201|25202|25203|25204|25205|25206|25207|25208|25209|25210|25211|25212|25213|25214|25215|25216|25217|25218|25219|25220|25221|25222|25223|25224|25225|25226|25227|25228|25229|25230|25231|25232|25233|25234|25235|25236|25237|25238|25239|25240|25241|25242|25243|25244|25245|25246|25247|25248|25249|25250|25251|25252|25253|25254|25255|25256|25257|25258|25259|25260|25261|25262|25263|25264|25265|25266|25267|25268|25269|25270|25271|25272|25273|25274|25275|25276|25277|25278|25279|25280|25281|25282|25283|25284|25285|25286|25287|25288|25289|25290|25291|25292|25293|25294|25295|25296|25297|25298|25299|25300|25301|25302|25303|25304|25305|25306|25307|25308|25309|25310|25311|25312|25313|25314|25315|25316|25317|25318|25319|25320|25321|25322|25323|25324|25325|25326|25327|25328|25329|25330|25331|25332|25333|25334|25335|25336|25337|25338|25339|25340|25341|25342|25343|25344|25345|25346|25347|25348|25349|25350|25351|25352|25353|25354|25355|25356|25357|25358|25359|25360|25361|25362|25363|25364|25365|25366|25367|25368|25369|25370|25371|25372|25373|25374|25375|25376|25377|25378|25379|25380|25381|25382|25383|25384|25385|25386|25387|25388|25389|25390|25391|25392|25612|25624|25641|25646|25650|25652|49420|49421|49422|49423|93036|213664|227420|257788|260943|339078|339079|339081|339082|339084|339085|348615|348617|348625|348627|352165|352166|352167|352168|352169|352803|352804|352805|352806|352807|352808|353915|353916|389210|433316|433317|433321|433322|433324|438478|481379|583136|610215|610226|610234|615663|615665|615667|615668|615669|615670|615672|615673|615674|615682|615699|615756|615757|615758|615759|615851|654965|689446|689448|788955|792174|792175|792176|792177|792178|792179|792180|792181|792182|800268|800269|800270|800271|800272|800273|800274|800275|800276|800277|800278|800279|800280|800281|800282|800283|800284|800285|800286|800287|800288|800289|800290|800291|800292|800293|800294|800295|800296|800297|800298|800299|800300|800301|800302|801223|860815|861047|902903|902904|902905|902906|902907|902908|902909|902910|902911|902912|902913|902914|902915|902916|902917|902918|902919|902920|902921|902922|902923|902924|902925|902926|902927|902928|902929|902930|902931|902932|902933|902934|918476|919994|962090|962091|962092|962093|962094|962095|962096|962097|962098|962099|962100|962101|962102|962103|962104|962105|962106|962109|962110|962111|967240|982302|982303|982304|982305|982306|982307|982308|982309|982310|982311|982312|982313|982314|982315|982316|982317|982318|982319|982320|982321|982322|982323|982324|982325|982326|982327|982328|982329|982330|982331|982332|982333|982334", + "text": "Hereditary factor VIII deficiency disease" + }, + { + "baseId": "25137|25150|25165|25216|25235|25256|25261|25271|25275|25284|25285|25292|25320|25354|25358|25366|25371|25603|25604|25605|25606|25607|25608|25609|25610|25611|25611|25612|25613|25614|25615|25616|25617|25618|25618|25619|25620|25621|25622|25623|25624|25625|25626|25626|25627|25628|25629|25631|25632|25634|25635|25636|25637|25638|25639|25639|25640|25641|25641|25642|25643|25644|25645|25646|25646|25647|25648|25649|25650|25651|25652|25653|25654|25654|25655|25656|25657|25658|25659|25660|25661|25662|25663|25664|25665|25666|25667|25668|25669|25670|25671|25672|25673|25674|25675|25676|25677|25678|25679|25680|25680|25681|25682|25686|25687|25688|25689|25690|25691|25693|25694|25695|25696|25697|25699|25701|25702|25703|25704|25705|25706|25707|97615|97615|213664|227419|227419|272487|272487|338968|338968|338973|338973|338978|338978|338980|338982|348532|348532|348533|348533|348544|348544|348545|348546|348547|348550|352093|352093|352094|352095|352777|352778|362218|362219|362220|433314|471322|471759|534874|573610|575339|610215|610226|615676|615677|615679|615681|615682|615683|615684|615685|615686|615687|615688|615690|615691|615692|615693|615694|615695|615696|615697|615698|615699|615700|615701|615702|615703|615704|615705|615706|615707|615708|615709|615710|615711|615712|615713|615762|615858|615859|649734|649735|653304|653623|653690|684952|684953|684955|684956|684957|684957|685484|689350|689351|689351|689353|689354|689356|689356|689357|694795|773781|773782|773783|786710|786712|792126|800214|800220|801219|801220|821564|849692|849693|849694|849695|852471|902830|902831|902832|902833|902834|939457|951629|962083|962084|962085|962086|962087|962088|962089|962108|980084|980085|980086|980087", + "text": "Hereditary factor IX deficiency disease" + }, + { + "baseId": "25143|25159", + "text": "FACTOR VIII POLYMORPHISM" + }, + { + "baseId": "25150", + "text": "FACTOR VIII (OKAYAMA)" + }, + { + "baseId": "25153", + "text": "FACTOR VIII (EAST HARTFORD)" + }, + { + "baseId": "25393|25394|176763|178250|178251|178254|190850|231306|231307|231342|231343|472233|472235|535216|535217|535219|535220|535221|535222|575464|575467|575469|575470|575471|575472|575475|623389|650287|650288|650289|650290|650291|650292|650293|650294|650295|650296|650297|650298|650299|650300|650301|650302|650303|717883|729745|729746|729747|743507|761007|774281|776976|780238|850350|850351|850352|850353|850354|850355|850356|850357|850358|850359|853066|853067|929842|929843|929844|929845|929846|939704|939705|939706|939707|939708|939709|951915|951916|951917|951918|951919|951920|959380|959381|959382|960992", + "text": "Surfactant metabolism dysfunction, pulmonary, 4" + }, + { + "baseId": "25395|25396|25397|25398|132679|195912|215613|225821|225850|377731|415737|424674|552242|552243|552244|626290|788948|792118|971175", + "text": "Mental retardation, X-linked, syndromic, wu type" + }, + { + "baseId": "25399", + "text": "G6PD A+" + }, + { + "baseId": "25399|25399|25399|25400|25400|25402|25402|25403|25406|25406|25407|25407|25409|25410|25411|25411|25419|25420|25421|25422|25425|25425|25427|25428|25428|25429|25430|25432|25433|25435|25436|25437|25438|25439|25440|25441|25442|25443|25444|25445|25446|25449|25450|25451|25453|25455|25456|25458|25461|26571|26572|26573|26573|26574|26575|99398|99400|99401|99404|190992|352163|352802|425278|430790|471838|472107|535115|572365|649893|649894|653781|694844|694845|729516|729517|773925|780232|786758|792172|792173|800262|849841|849842|849843|929633|951688|959209", + "text": "Anemia, nonspherocytic hemolytic, due to G6PD deficiency" + }, + { + "baseId": "25399|25399|25400|25400|25401|25404|25405|25407|25411|25413|25419|25425|25426|25427|25428|25434|25461|99394|99398|99399|99401|99404|190992|339060|339062|339069|339073|352161|352162|352163|352798|352799|352800|352801|352802|786758|902892|902893|902894|902895|902896|902897|902898|902899|902900|902901|902902|903463|903464|903465|903466", + "text": "Glucose 6 phosphate dehydrogenase deficiency" + }, + { + "baseId": "25399|94283|94284|94285|205806|424966|614100|792114|964897", + "text": "Bone mineral density quantitative trait locus 18" + }, + { + "baseId": "25400", + "text": "G6PD ASAHI" + }, + { + "baseId": "25400", + "text": "chlorproguanil and dapsone response - Toxicity/ADR" + }, + { + "baseId": "25400|94337|204007", + "text": "Parkinsonism with spasticity, X-linked" + }, + { + "baseId": "25402", + "text": "G6PD CHATHAM" + }, + { + "baseId": "25403", + "text": "G6PD ILESHA" + }, + { + "baseId": "25406", + "text": "G6PD MAHIDOL" + }, + { + "baseId": "25407", + "text": "G6PD MEDITERRANEAN" + }, + { + "baseId": "25407", + "text": "G6PD SASSARI" + }, + { + "baseId": "25407", + "text": "G6PD CAGLIARI" + }, + { + "baseId": "25407|26606", + "text": "Angioedema induced by ACE inhibitors, susceptibility to" + }, + { + "baseId": "25407|25425", + "text": "G6PD deficient hemolytic anemia" + }, + { + "baseId": "25407", + "text": "Hemolytic anemia, G6PD deficient (favism)" + }, + { + "baseId": "25408", + "text": "G6PD METAPONTO" + }, + { + "baseId": "25409", + "text": "G6PD PORTICI" + }, + { + "baseId": "25409", + "text": "G6PD NASHVILLE" + }, + { + "baseId": "25409", + "text": "G6PD ANAHEIM" + }, + { + "baseId": "25410", + "text": "G6PD SANTIAGO DE CUBA" + }, + { + "baseId": "25411", + "text": "G6PD SEATTLE-LIKE" + }, + { + "baseId": "25411", + "text": "G6PD MODENA" + }, + { + "baseId": "25412", + "text": "G6PD HARILAOU" + }, + { + "baseId": "25414", + "text": "G6PD IOWA" + }, + { + "baseId": "25414", + "text": "G6PD IOWA CITY" + }, + { + "baseId": "25414", + "text": "G6PD SPRINGFIELD" + }, + { + "baseId": "25414", + "text": "G6PD WALTER REED" + }, + { + "baseId": "25415", + "text": "G6PD BEVERLY HILLS" + }, + { + "baseId": "25416", + "text": "G6PD TOMAH" + }, + { + "baseId": "25417", + "text": "G6PD RIVERSIDE" + }, + { + "baseId": "25418", + "text": "G6PD ANDALUS" + }, + { + "baseId": "25419", + "text": "G6PD CANTON" + }, + { + "baseId": "25419", + "text": "G6PD GIFU" + }, + { + "baseId": "25419", + "text": "G6PD AGRIGENTO" + }, + { + "baseId": "25419", + "text": "G6PD TAIWAN-HAKKA" + }, + { + "baseId": "25420", + "text": "G6PD PUERTO LIMON" + }, + { + "baseId": "25421", + "text": "G6PD MALAGA" + }, + { + "baseId": "25422", + "text": "G6PD GASTONIA" + }, + { + "baseId": "25422", + "text": "G6PD MARION" + }, + { + "baseId": "25422", + "text": "G6PD MINNESOTA" + }, + { + "baseId": "25424", + "text": "G6PD IERAPETRA" + }, + { + "baseId": "25425", + "text": "G6PD VIANGCHAN" + }, + { + "baseId": "25425", + "text": "G6PD JAMMU" + }, + { + "baseId": "25428", + "text": "G6PD KAIPING" + }, + { + "baseId": "25428", + "text": "G6PD ANANT" + }, + { + "baseId": "25428", + "text": "G6PD DHON" + }, + { + "baseId": "25428", + "text": "G6PD PETRICH-LIKE" + }, + { + "baseId": "25428", + "text": "G6PD SAPPORO-LIKE" + }, + { + "baseId": "25429", + "text": "G6PD LOMA LINDA" + }, + { + "baseId": "25430", + "text": "G6PD COIMBRA" + }, + { + "baseId": "25432", + "text": "G6PD TAIWAN-HAKKA 2" + }, + { + "baseId": "25433", + "text": "G6PD SANTIAGO" + }, + { + "baseId": "25434", + "text": "G6PD MEXICO CITY" + }, + { + "baseId": "25435", + "text": "G6PD GUADALAJARA" + }, + { + "baseId": "25436", + "text": "G6PD ALHAMBRA" + }, + { + "baseId": "25437", + "text": "G6PD JAPAN" + }, + { + "baseId": "25438", + "text": "G6PD PAWNEE" + }, + { + "baseId": "25439", + "text": "G6PD SUNDERLAND" + }, + { + "baseId": "25440", + "text": "G6PD KERALA-KALYAN" + }, + { + "baseId": "25440", + "text": "G6PD KERALA" + }, + { + "baseId": "25440", + "text": "G6PD KALYAN" + }, + { + "baseId": "25441", + "text": "G6PD AURES" + }, + { + "baseId": "25442", + "text": "G6PD GAOHE" + }, + { + "baseId": "25443", + "text": "G6PD QUING YUAN" + }, + { + "baseId": "25444", + "text": "G6PD MAHIDOL-LIKE" + }, + { + "baseId": "25445", + "text": "G6PD ORISSA" + }, + { + "baseId": "25446", + "text": "G6PD NANKANG" + }, + { + "baseId": "25448", + "text": "G6PD NEAPOLIS" + }, + { + "baseId": "25449", + "text": "G6PD SERRES" + }, + { + "baseId": "25451", + "text": "G6PD AVEIRO" + }, + { + "baseId": "25453", + "text": "G6PD REHOVOT" + }, + { + "baseId": "25454", + "text": "G6PD SPLIT" + }, + { + "baseId": "25455", + "text": "G6PD NAMORU" + }, + { + "baseId": "25456", + "text": "G6PD NILGIRI" + }, + { + "baseId": "25459", + "text": "G6PD ZURICH" + }, + { + "baseId": "25460", + "text": "G6PD VARNSDORF" + }, + { + "baseId": "25461", + "text": "G6PD COSENZA" + }, + { + "baseId": "25462|25466", + "text": "Dyserythropoietic anemia with thrombocytopenia" + }, + { + "baseId": "25462|25463|25464|25466|40607|166050|166051|166053|166054|166055|404581|471606|471610|472161|535011|535177|535178|575425|575426", + "text": "GATA-1-related thrombocytopenia with dyserythropoiesis" + }, + { + "baseId": "25463|25464", + "text": "Thrombocytopenia, X-linked, without dyserythropoietic anemia" + }, + { + "baseId": "25465", + "text": "Leukemia, megakaryoblastic, of Down syndrome" + }, + { + "baseId": "25467|40608|471610", + "text": "Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis" + }, + { + "baseId": "25468|138312|138319|183028|215048|215049|215050|215051|215052|215053|215054|215055|362916|362992|362993|362994|362995|581224|611996", + "text": "Acute megakaryoblastic leukemia" + }, + { + "baseId": "25470|25471|25472|25473|25474|25475|25476|25477|25478|25479|25480|25481|25482|25483|25484|25485|25486|25487|25488|25489|25490|33931|33932|33933|33934|33935|33936|33937|33938|33939|102962|165478|165479|165480|165481|186291|192187|213498|213502|213890|213891|213892|213893|213894|222886|244167|245177|339521|339522|352410|352422|352940|352941|352942|361106|404289|442441|470992|512742|534929|573997|609158|609184|625477|625569|625656|679697|792497|798821|903170|903171|903172|903173|903174|903175|903176|961022|964631", + "text": "Charcot-Marie-Tooth Neuropathy X Type 1" + }, + { + "baseId": "25492|25493|25494|25495|25496|25497|25499|25501|25502|25504|25505|25506|29396|35546|35549|35550|35551|35552|35553|35554|35555|35556|35557|35559|35561|35563|35567|35569|35570|35571|35572|35573|35574|35575|35578|35579|35580|35582|35583|35584|35585|35586|35587|35589|35590|35591|35592|35593|35594|35596|35597|35598|35599|35601|35602|35604|35605|35606|35607|35608|35609|35610|35611|35612|35616|35617|35618|35619|35620|35621|35623|35625|35626|35627|35628|35629|35630|35632|35633|35634|35635|35636|35637|35638|35639|35641|35642|35643|35644|35645|35647|35648|35649|35650|35651|35652|35653|35654|35655|35657|35658|35660|35661|35662|35663|35664|35665|35666|35668|35669|35670|35671|35674|35675|35676|35677|35678|35679|35680|35681|35682|35683|35684|35685|35686|35687|35689|35690|35691|35692|35693|35694|35695|35696|35697|35698|35699|35700|35701|35702|35704|35705|35706|35707|35708|35709|35710|35711|35712|35713|35714|35715|35716|35717|35718|35719|35720|35721|35722|35724|35725|35726|35727|35728|35729|35731|35733|35734|35736|35738|35739|35740|35742|35744|35745|35746|35747|35748|35749|35750|35751|35753|35754|35755|35756|35757|35758|35759|35760|35761|35762|35763|35765|35766|35767|35768|35769|35770|35771|35772|35773|35774|35775|35776|35777|35778|35779|35780|35781|35782|35783|35784|35785|35786|35787|35788|35789|35790|35791|35792|35793|35794|35795|35796|35797|35798|35799|35800|35801|35802|35803|35804|35805|35807|35808|35809|35810|35811|35812|35813|35814|35815|35816|35818|35819|35820|35821|35822|35823|35824|35825|35826|35827|35828|35829|35830|35831|35832|35833|35834|35835|35836|35837|35838|35839|35840|35841|35842|35843|35844|35845|35846|35847|35848|35850|35851|35852|35853|35854|35855|35856|35858|35859|35860|35861|35862|35866|35867|35868|35870|35871|35872|35875|35876|35877|35878|35879|35882|35884|35885|35886|35888|35889|35890|35891|35893|35895|35896|35897|35898|35899|35900|35902|35903|35904|35905|35906|35908|35909|35911|35914|35915|35916|35917|35920|35921|35923|35924|35925|35926|35928|35929|35931|35932|35933|35934|35935|35936|35937|35939|35940|35941|35942|35943|35944|35945|35946|35947|35948|35949|35951|35953|35954|35955|35956|35957|35958|35959|35962|35963|35964|35965|35967|35968|35969|35971|35973|35974|35975|35977|35978|35979|35981|35983|35984|35986|35987|35988|35989|35990|35991|35992|35993|35995|35996|35997|35998|35999|36000|36002|36003|36004|36006|36007|36008|36009|36010|36011|36012|36013|36014|36017|36018|36019|36020|36022|36023|36024|36025|36026|36030|36031|36032|36033|36034|36035|36037|36038|36039|36040|36041|36042|36043|36044|36047|36048|36049|36050|36052|36053|36054|36055|36057|36058|36059|36060|36061|36062|36063|36064|36065|36066|36067|36068|36070|36072|36073|36074|36075|36080|36081|36083|36084|36086|36089|36090|36091|36092|36093|36094|36095|36096|36097|36098|36099|36101|36102|36103|36104|36106|36107|36108|36109|36110|36111|36112|36113|36114|36115|36116|36117|36118|36120|36121|36123|36124|36126|36127|36129|36130|36132|36133|36134|47346|47347|47348|47351|47352|47353|47354|47356|47357|47359|47360|47361|47362|47363|47364|47365|47366|47367|47368|47369|47370|47371|47372|47373|47374|47375|47376|47377|47378|47379|47381|47382|47384|47387|47388|47389|47390|47391|47393|47394|189115|193020|205798|223755|223756|223757|223758|223759|223760|243893|257736|257739|260805|260806|260807|260808|354184|354185|384505|384506|384507|418976|422402|424442|426396|426397|426753|432344|432345|432346|433302|438462|439581|440657|446461|446463|513150|513151|513152|513153|513154|513155|513156|513157|513158|513159|513160|513161|513162|551799|553587|553601|553604|577917|577924|578004|578036|578037|578038|578039|578040|578041|578042|578043|578045|578046|578047|578048|578049|578050|578051|578052|578053|578054|578055|578056|578057|578058|578059|578060|578061|578062|578063|578064|578065|578066|578067|578068|578069|578070|578071|578072|578073|578074|578075|578076|578078|578079|578080|578081|578082|578083|578084|578085|578086|578087|578088|578089|578090|578091|578092|578093|578095|578096|578097|578098|578099|578100|578101|578102|578103|578104|578105|578106|578107|578108|578109|578110|578111|578112|578113|578114|578115|578116|578117|578118|578119|578120|578121|578122|578123|578124|578125|578126|578127|578128|578129|578130|578131|578132|578133|578134|578135|578136|578137|578138|578139|578140|578141|578142|578143|578144|578145|578146|578147|578148|578150|578151|578152|578154|578156|578157|578158|578159|578160|578161|578162|578163|578164|578165|578166|578167|578168|578169|578171|578172|578173|578174|578175|578176|578177|578178|578179|578180|578181|578182|578183|578184|578185|578186|578187|578188|578189|578190|578191|578192|578193|578194|578195|578196|578197|578198|578199|578200|578201|578202|578205|578206|578207|578208|578209|578210|578212|578213|578214|578215|578216|578217|578218|578219|578220|578221|578222|578223|578224|578225|578226|578227|578228|578229|578230|578231|578232|578233|578234|578235|578236|578237|578238|578239|578240|578243|578244|578245|578246|578247|578248|578249|578250|578251|578253|578254|578255|578256|578257|578258|578259|578260|578261|578262|578263|578264|578265|578266|578267|578268|578269|578270|578271|578272|578273|578274|578275|578276|578277|578278|578279|578280|578281|578282|578283|578284|578285|578286|578287|578288|578289|578290|578291|578292|578293|578294|578295|578296|578297|578298|578299|578300|578301|578302|578303|590341|590342|590343|590344|590345|590346|590347|590348|590349|590350|590351|590352|590353|590354|590355|590461|590474|611357|612112|612448|614099|622267|622927|623358|623359|623360|623361|623362|623363|623364|623365|624871|626419|654151|679522|680060|680061|695887|717593|792107|792108|792109|792110|792111|792112|792113|794269|798779|798780|798781|798782|798783|798784|798785|798786|798787|798788|798789|798790|798791|798792|798793|798794|798795|798796|798797|798798|798799|798800|800208|800209|800414|801558|818349|818350|818351|818352|818353|818354|818355|818356|818357|818358|818359|818360|818361|818362|818363|818364|818365|818366|818367|849552|857395|857659|858532|858533|858534|858535|858536|858537|858538|918475|919968|919969|919970|920433|961038|962805|962806|962807|962808|962809|962810|962811|962812|962813|962814|962815|962816|962817|962842|962843|962844|962845|962846|962847|962850|963379|963380|963381|963382|963383|963384|963385|963386|964565|971171|972373|972374|972375|972376|972377|972378|972379|972380|972381|972382|972383|972384|972385|972386|972387|972388|972389|972390|972391|972392|972393|972394|972395|972396|980079|980080|980081|980082|980083|980400|980401|982270|982271|982272|984011", + "text": "Alport syndrome 1, X-linked recessive" + }, + { + "baseId": "25505|32448|32523|32531|189115|190092|215249|227237|250583|250584|250586|250587|250588|250589|250590|250591|250592|250594|250595|250596|250597|250599|250600|250601|250602|250603|250605|250606|250607|250608|250609|250610|250611|250613|250614|250616|250617|250618|250619|250620|250621|250622|250624|250625|250626|250627|250628|250629|250631|250632|250635|250636|250637|250638|250639|250640|250641|250642|250643|250644|250646|250647|250648|250649|250650|250651|250652|250654|272152|284955|284956|284962|284964|284980|284986|284991|284993|284998|285000|285004|285008|285010|285015|285018|285019|285021|285027|285030|285031|285033|285034|285035|285037|285051|285052|285057|285058|285060|285061|285063|285064|285070|285071|285076|285079|285080|285088|285089|285094|285097|285102|285103|285112|285115|285116|285124|285125|285126|285135|285136|285613|285614|285619|285620|285623|285634|285636|285665|285669|285670|285671|285672|285680|285681|285682|285686|285687|285688|285690|285694|285697|285698|285700|285710|285711|285713|285717|285718|285719|285721|285726|285727|285728|285730|285731|285743|285744|285745|285749|285750|285751|285763|285764|285772|285775|287958|287960|287961|287962|287966|287968|287969|287970|287975|287982|287994|287995|287996|287999|288001|288002|288003|288024|288025|288027|288028|288029|288036|288037|288041|288043|288048|288050|288056|288057|288058|288062|288064|288066|288072|288077|288078|288083|288084|288093|288102|288110|288112|288207|288223|288225|288226|288227|288239|288240|288241|288243|288244|288267|288268|288280|288281|288296|288299|288301|288304|288308|288309|288352|288365|288374|288375|288386|288403|288408|288409|288410|288411|288412|288414|288415|288420|288421|288424|288426|288446|288450|288457|288459|288460|288461|288464|288474|288475|288476|288479|288480|288484|288488|288490|288491|405643|405646|424890|440657|440670|440671|440673|440678|443176|443177|443179|443181|486961|490915|491213|491479|493402|493610|496225|496718|499552|499554|499804|499806|499956|536626|541884|541903|541925|541970|542004|542014|542034|553611|553629|576647|578248|584708|584926|586060|590241|622521|622948|654245|654246|654248|654249|654253|654259|654261|655429|658694|658695|697370|697371|719679|719682|719683|733227|733228|733229|733230|733233|733234|733237|733239|743891|743897|743902|747383|747385|747387|759153|762981|762990|762995|762996|762998|763001|763005|763011|763012|763014|774686|774710|774711|774745|774761|781196|781198|781199|781203|781204|781206|781207|781211|781218|781221|787098|787195|792967|795183|804846|818208|818211|821877|825794|825797|825810|883942|883943|883944|883945|883946|883947|883948|883949|883950|883951|883952|883953|883954|883955|883956|883957|883958|883959|883960|883961|883962|883963|883964|883965|883966|883967|883968|883969|883970|883971|883972|883973|883974|883975|883976|883977|883978|883979|883980|883981|883982|883983|883984|883985|883986|883987|883988|883989|883990|883991|883992|883993|883994|883995|883996|883997|883998|883999|884000|884001|884002|884003|884004|884005|884006|884007|884008|884009|884010|884011|884012|884013|884014|884015|884016|884017|884018|884019|884020|884021|884022|884023|884024|884025|884026|884027|884028|884029|884030|884031|884032|884033|884034|884035|884036|884037|884038|884039|884040|884041|884042|884043|884044|884045|884046|884047|884048|884049|884050|884051|884052|884053|884054|884055|884056|887284|887285|887286|887287|887288|887289|887290|887291|887292|887293|887294|887295|887296|887297|887298|887299|887300|887301|887302|887303|887304|887305|918504|918505|918509|918518|918519|918520|977688|977689|977690|977691|977692|977693|977694|977695|977696|977697|977698|977699|977700|977701|977702|977703|977704|977705", + "text": "Alport syndrome" + }, + { + "baseId": "25507|25508|25509|25510|25514|25515|25516|25517|25518|25519|25520|25523|25524|49400|140054|140056|140057|140061|212022|212025|212026|212027|212028|212030|290283|290284|290285|291116|291118|291128|291136|291141|294419|294428|294431|294437|294438|294758|294768|294793|294827|294831|339502|339508|348990|348992|348994|348996|348999|349002|352379|352929|352930|352931|353648|434515|508348|903153|903154|903155|903156|903157|903158|903481", + "text": "Anemia, sideroblastic, 1" + }, + { + "baseId": "25511|25512", + "text": "Sideroblastic anemia 1, late-onset" + }, + { + "baseId": "25513", + "text": "Anemia, hereditary sideroblastic 1, pyridoxine refractory" + }, + { + "baseId": "25521|25522|49400|75248|75249", + "text": "Protoporphyria, erythropoietic, X-linked" + }, + { + "baseId": "25525|25526|25527|25528|25529|25530|25531|25532|25533|25534|25535|25536|25537|25540|98525|98526|98527|98530|192198|193394|195566|196156|222898|222900|222901|222902|222903|222904|222905|222906|222907|222908|222909|222910|222911|222912|222913|222914|222915|222916|222917|222918|222919|222920|222921|223658|223659|223660|223661|223662|223663|223664|223665|223666|223667|269097|271132|378928|413848|431004|431005|470358|470524|471335|471342|472073|513390|534493|534568|534573|534641|574329|574331|575344|580665|580668|580802|580807|580814|580816|580959|586929|613229|621679|621680|621681|625891|625892|625893|625894|625895|625896|625897|625898|625899|649743|649744|649745|653344|653624|653625|653691|689368|689369|694802|694804|706122|706123|706125|706126|706127|717673|717674|729447|729448|729449|743169|743170|743171|743172|758319|758320|758321|773826|773827|773830|773831|776857|778647|778699|792131|792132|800627|805047|821480|849703|849704|849705|849706|849707|849708|853030|857696|857697|929587|929588|929589|929590|939461|951632|959176|959177|959178|959179|965355|980088", + "text": "Mucopolysaccharidosis, MPS-II" + }, + { + "baseId": "25536|25538", + "text": "Mucopolysaccharidosis, type II, mild form" + }, + { + "baseId": "25537|25539", + "text": "Mucopolysaccharidosis, type II, severe form" + }, + { + "baseId": "25542|25544|25546|25547|442545", + "text": "Cone monochromatism" + }, + { + "baseId": "25543", + "text": "RED CONE POLYMORPHISM" + }, + { + "baseId": "25545", + "text": "Protan defect" + }, + { + "baseId": "25547|25548|25549|25551|919984", + "text": "Deuteranopia" + }, + { + "baseId": "25552", + "text": "Cone dystrophy 5, X-linked" + }, + { + "baseId": "25553|25554|25555|25556|25557|25558|25559|25560|25562|38939|104522|171764|904074", + "text": "Ocular albinism, type I" + }, + { + "baseId": "25561|25563|25564|611358|920075", + "text": "Nystagmus 6, congenital, X-linked" + }, + { + "baseId": "25565|33006|38938|99929|133732|191365|217196|265456|426411|614105|792130|920437|963397|971183", + "text": "FRAXE" + }, + { + "baseId": "25566|25567|25568|25569|25570|25571|25572|25573|25574|25577|195873|205027|205339|205340|257794|257797|257798|257800|257801|257803|257804|257805|378058|378078|378089|379165|380013|439241|481444|492427|492524|508130|508133|508501|513163|513392|534696|534769|534775|534785|535123|573764|573768|574442|575285|575377|575378|575379|575380|584146|622490|626294|649913|649914|649915|649916|649917|649918|649919|649920|649921|649922|682741|682742|682743|682744|682745|682746|706185|729536|758422|792195|792196|792197|792198|792199|792200|798810|821579|849876|849877|849878|849879|851954|852486|852489|860822|920001|920002|929641|929642|929643|939518|939519|939520|940549|940550|951702|960979|961550|964703", + "text": "Glycogen storage disease type IXa1" + }, + { + "baseId": "25572|25574|25575|25576|25577|25578|25579|25580", + "text": "Glycogen storage disease IXa2" + }, + { + "baseId": "25581|25582|192587|339086|339092|339097|339100|339103|348636|348637|348640|348643|348646|348654|352172|352177|352178|352179|352809|352810|352812|430743|902935|902936|902937|902938|902939|902940|902941|919995|919996", + "text": "Mental retardation, X-linked 72" + }, + { + "baseId": "25583|25584|25585|25586|25587|25588|25589|25590|193605|578350|623367|800318|850066", + "text": "Retinitis pigmentosa 2" + }, + { + "baseId": "25591|25592|25593|25594|25595|25596|185939|185940|185941|185942|613946|613986|613987|614160|626302|920460", + "text": "X-linked ichthyosis with steryl-sulfatase deficiency" + }, + { + "baseId": "25597|25598|25599|25600|25683|25684|25685", + "text": "Hemophilia B Leyden" + }, + { + "baseId": "25601|25602|25680", + "text": "FACTOR IX POLYMORPHISM" + }, + { + "baseId": "25611|25618|25626|25639|25641|25646|25654|25680|25707|97615|227419|272487|338968|338973|338978|348532|348533|348544|352093|471759|534874|573610|575339|649734|649735|653304|653623|653690|684952|684953|684955|684956|684957|685484|689350|689351|689353|689354|689356|689357|773781|773782|773783|786710|786712|816498|821564|849692|849693|849694|849695|852471|939457|951629", + "text": "Thrombophilia, X-linked, due to factor IX defect" + }, + { + "baseId": "25627", + "text": "Deep venous thrombosis, protection against" + }, + { + "baseId": "25630|25633", + "text": "Hemophilia b(m)" + }, + { + "baseId": "25639", + "text": "FACTOR IX, DNA POLYMORPHISM" + }, + { + "baseId": "25692", + "text": "Hemophilia B Brandenburg" + }, + { + "baseId": "25698|25700", + "text": "Warfarin sensitivity, x-linked" + }, + { + "baseId": "25710|25711|25712|25713|25714", + "text": "Syndactyly-telecanthus-anogenital and renal malformations syndrome" + }, + { + "baseId": "25715|25716|25717|102098|213670|227423|265043|361247|362599|362600|362601|362602|362603|362604|362605|362606|362607|362608|362609|362610|362611|362612|362613|362614|362615|379463|411426|512712|538515|552263|608875|615772|622496|678078|792480|798819|800321|816503|850200|858586|964625|964626|971218|971219|971220|971221", + "text": "Syndromic X-linked intellectual disability Turner type" + }, + { + "baseId": "25718|25719|25720|25721|25722|25724|25725|25726|25728|25729|25731|25732|25735|25736|25737|25738|177444|226404|237630|361098|800649", + "text": "Atrophia bulborum hereditaria" + }, + { + "baseId": "25723|25727|25733|25734|513687", + "text": "Familial exudative vitreoretinopathy, X-linked" + }, + { + "baseId": "25730", + "text": "Exudative vitreoretinopathy, X-linked" + }, + { + "baseId": "25739|25740|25741|25742|244003|361152|480818|480819|679815|682677|802236|816511|972737|975661|983863", + "text": "Focal dermal hypoplasia" + }, + { + "baseId": "25743|25744|25745|25746|25747|38934|45731|45732|137226|137240|432372|624063|717839|729670|792486|920049|963239|963240|963241|964073|964074", + "text": "Osteopathia striata with cranial sclerosis" + }, + { + "baseId": "25748|25749|25750|25751|193633|225835|421144|470473|471250|471251|471686|471687|471688|471689|472051|472052|534472|534482|534485|534504|534598|535014|572196|574270|574272|574274|611441|649668|758284|758285|821475|822214|822215|849602|861156|919974|919975|929560|939421|939422|951589|959160|959161|959162|960362", + "text": "Mental retardation, X-linked, syndromic, Raymond type" + }, + { + "baseId": "25752|25753|25754|25755|25756|25757|25758|25759|25761|25762|25763|25764|25765|25766|25767|25768|25769|25769|25770|25771|25772|25773|25774|25775|25776|25777|25778|25779|25780|25781|25782|25783|25784|25785|25786|25787|25788|25789|25791|25792|25793|25794|25795|25797|25798|25799|25800|25801|25804|25805|25806|25807|25807|25808|25809|25810|25813|38452|44944|51619|51621|51622|51623|51624|51625|51626|51627|51628|51629|51630|51634|51635|51636|98447|98450|98469|98472|98474|98477|98478|98482|165573|176805|176806|176808|177041|177172|177304|177748|178194|178194|178269|178286|178294|178306|179863|179865|179867|179868|179870|179872|179881|190221|192190|193387|194799|194800|195214|195560|195561|195562|195563|214012|214013|214014|214015|214016|214017|214018|214019|214020|214021|214022|214023|214024|214025|214026|214027|214028|214029|214030|214031|214032|214033|214034|214035|214036|214037|214038|214039|214040|214041|214042|214043|214044|214045|214046|214047|214048|214049|214050|214051|214052|214053|214054|215608|223790|223792|223795|223802|223804|223819|223822|223829|223834|223839|223842|223845|223862|223885|223886|223889|223894|223896|223898|223900|223927|223932|223935|223936|223938|223939|223944|223945|223952|223955|223998|224000|224036|224049|224054|224055|224083|224087|224089|224096|224099|224102|224112|224114|224119|224122|224123|224124|224135|224143|224147|224163|224164|224578|224579|236819|243726|243727|245172|245173|264797|265210|265915|268722|269807|271086|272545|274105|351933|358691|360625|377660|377668|378802|404055|404423|404424|404463|404465|439341|446453|446454|446455|471217|471218|471220|471225|471668|471670|472044|487981|488021|488025|488028|488029|488068|488069|488070|507744|508242|513676|514788|534430|534433|534463|534466|534984|534985|537031|549816|553425|572155|572157|573516|574245|575315|576191|576192|585239|587645|588605|619046|621661|621662|621663|621664|621665|621666|621667|621668|621669|621670|621671|621672|649616|649617|649618|649619|649620|653373|685475|694760|758203|792103|821542|849521|849522|849523|849524|849525|849526|849527|852957|858448|860761|905969|906113|906114|914974|914975|914976|914977|914978|914979|914980|914981|914982|914983|914984|914985|914986|914987|914988|914989|914990|914991|914992|914993|914994|914995|914996|914997|914998|914999|915000|915001|915002|916114|916694|916696|917335|917337|917338|917339|917340|917341|917342|917343|917344|917345|917346|917348|917351|917352|917353|917354|917571|921498|929531|929532|929533|929534|939389|939390|939391|941283|951562|951563|959148|963115|965870|969199|969200|970124|970127|972612|975850|977362|980204|980205|980206|980207|980398|980399|984009", + "text": "Fabry disease" + }, + { + "baseId": "25754|25756|25760|25802|25803|25807", + "text": "Fabry disease, cardiac variant" + }, + { + "baseId": "25814|25815|101499|101500|135821|143026|143029|195723|196018|196290|203959|203960|203962|203965|203969|203973|203975|203977|208824|268445|377656|378782|404051|404052|404398|404420|470439|470442|471659|471663|472040|472041|534427|534567|534577|573507|575313|575314|580710|580733|583134|649589|649590|684925|776871|792098|821539|849506|849507|849508|903648|929526|929527|939381|939382|939383|959146", + "text": "Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked" + }, + { + "baseId": "25816|25817|25818|25819|25820|150141|384444|430637|430748|917754|961021|976520", + "text": "Pettigrew syndrome" + }, + { + "baseId": "25821|25822|25823|25824|25825|25826|25827|25828|25829|38931|38932|38933|190088|257750|257751|257752|257753|257754|338847|338848|338853|338863|338868|338876|338878|338882|348463|348466|348468|352061|352062|352063|352751|352752|352753|614104|729410|729411|745459|902778|902779|902780|902781|902782|902783|902784|902785|902786|902787|902788|902789|902790|903457|903458|964698", + "text": "Infantile nystagmus, X-linked" + }, + { + "baseId": "25830|25831|25832|48172|48173|470465|649659|717622|849585|861669|939416|939417", + "text": "Polyagglutinable erythrocyte syndrome" + }, + { + "baseId": "25833|339629|339630|339631|339632|339634|349119|349120|349122|349124|349126|349130|349131|349133|349137|352464|352465|352466|352467|352468|352469|352470|352471|352472|352473|352975|352976|352977|352978|352979|352980|352981|352982|352983|352984|352985|352986|352987|620700|729725|745198|745426|903263|903264|903265|903266|903267|903268|903269|903270|903271|903272|903273|903274|903275", + "text": "Premature ovarian failure 2b" + }, + { + "baseId": "25833|76339|133458|151128|152554|233445|238964|360884|360884|452897|486603|486604|486605|610437|610438|610439|610440|610441|610442|610443|610444|610445|610446|610447|610448|610449|610450|610451|610452|610453|610454|610455|610456|610457|610458|610459|610460|610461|610462|610463|610464|610465|610466|610467|610468|610469|610470|610471|610472|610473|610474|610475|610476|614158|798951|857360|857412|857413|857415|966618|969329", + "text": "Premature ovarian insufficiency" + }, + { + "baseId": "25834|194486|404640|413833|508962|578596|622494|623368|626299|920039|971214|980404", + "text": "X-linked intellectual disability, Stocco dos Santos type" + }, + { + "baseId": "25836|25837|25838|25839|209132|361248|434695|539115|653919|920045|920046|972739", + "text": "Syndromic X-linked intellectual disability Siderius type" + }, + { + "baseId": "25840|101210|133935|133936|140166|140168|196272|204005|204006|204007|204007|204008|362040|380057|470799|470803|471558|534508|534816|774031|821791|850047|850048|850049|850050|857586|951790|959297", + "text": "Mental retardation, X-linked, syndromic, Hedera type" + }, + { + "baseId": "25841|25842|25843|102412|133980|192585|196081|209301|209307|213673|247209|339571|339572|339575|339580|339584|339591|339593|339599|339600|339601|339603|339611|349050|349051|349056|349057|349059|349062|349065|349067|349071|349072|349075|349082|349093|349101|349104|352448|352449|352450|352451|352452|352453|352454|352455|352456|352952|352953|352955|352956|352957|352958|352959|352960|352961|352962|352963|361256|553163|612340|614613|789392|792512|792513|805062|903216|903217|903218|903219|903220|903221|903222|903223|903224|903225|903226|903227|903228|903229|903230|903231|903232|903233|903234|903235|903236|903237|903238|903239|903240|903241|903242|903243|903244|903245|903246|903247|903248|903249|903487|903488|903489|903490|903491|903492|971232|976691", + "text": "Mental retardation, X-linked 93" + }, + { + "baseId": "25844|25845|25846|25847|25848|25849|25850|25851|38930|98783|98785|512558|513679|514789|538275|538276|538277|538278|538279|538280|538281|538282|538283|609027|677320|861662|961548|969760|977298", + "text": "Opitz GBBB syndrome, type I" + }, + { + "baseId": "25852|25853|25854|25855|25856|25858|25859|25860|25861|25862|45334|45335|45336|45337|45338|45339|45340|192813|227421|227925|257806|264847|264860|264878|264990|264997|264998|265002|265078|265081|265088|265148|265152|265153|266010|271082|339116|339117|339123|339126|339127|348663|348667|348668|348671|352181|352182|352183|352184|352185|352186|352187|352813|352814|352815|352816|352817|352818|352819|352820|352821|352822|360620|378102|379204|411267|415766|422451|426451|426452|432106|432107|432108|432109|432110|432111|432112|432113|432114|432115|432116|432117|432118|432119|432120|432121|432122|432123|432124|432125|432126|432127|432128|432129|432130|432131|432132|432133|432134|432135|432136|432137|432138|432139|432140|432141|432142|432143|432144|432145|432146|432147|432148|432149|432150|432151|432152|432153|432154|432155|432156|432157|432158|432159|432160|432161|432162|432163|432164|432165|432166|432167|432168|432169|432170|432171|432172|432173|432174|432175|432176|432177|432179|432180|432181|432182|432183|432184|432185|432186|432187|432188|432189|432190|432191|432192|432193|432194|432195|432196|432197|432198|432199|442408|446613|490880|513164|576345|612170|612171|677468|731464|758434|786784|792205|792206|792207|792208|792209|792210|792211|792212|792213|792214|792215|792216|792217|792218|792219|792220|792221|792222|792223|792224|792225|792226|792227|792228|792229|792230|792231|792232|792233|792234|792235|792236|792237|792238|792239|792240|792241|792242|792243|792244|792245|792246|792247|792248|792249|818370|818371|818372|818373|818374|902986|902987|902988|902989|902990|902991|902992|902993|903468|903469|929646|965438|977390", + "text": "Familial X-linked hypophosphatemic vitamin D refractory rickets" + }, + { + "baseId": "25863|25864|25865|25866|25867|25869|25870|25871|25872|25873|38929|100992|193550|226436|361249|481077|538315|538316|538317|538319|538320|538321|538516|682837|682838|792481|792482|792483|792484|798361|857660|920047|920456|971222", + "text": "Aarskog syndrome" + }, + { + "baseId": "25867", + "text": "Syndromic X-linked mental retardation 16" + }, + { + "baseId": "25874|25875|25876|25877|25878|25879|25880|25881|25882|25883|25884|25885|25886|25887|25888|25889|25890|25891|25892|200712|257777|257778|257778|257779|257780|257781|257782|262272|263865|339043|339048|348595|348597|348599|348606|348607|352130|352132|352133|352146|352147|352792|352793|352794|361239|411518|432347|434690|438979|512609|729494|743213|743214|743215|743219|773877|792157|792158|792159|902871|902872|902873|902874|902875|902876|902877|902878|902879|902880|902881|902882|902883|902884|962818|963387|963388|969619|983816", + "text": "Nephrogenic diabetes insipidus, X-linked" + }, + { + "baseId": "25877|25892|32867|32869|32871|44358|44359|44360|44361|44401|44402|44403|44404|44405|44406|44407|44408|44409|44410|44411|44412|44413|254604|317493|331609|333087|441560|738689|738690|738691|753440|769168|769174|775850|979288", + "text": "Nephrogenic diabetes insipidus" + }, + { + "baseId": "25893|25894|257778|434690", + "text": "Nephrogenic syndrome of inappropriate antidiuresis" + }, + { + "baseId": "25895|25896|25897|25898|25900|79587|79589|79590|79591|79592|79593|79594|79595|79596|79597|79598|79599|79600|79601|79602|79603|79605|79606|79607|79608|79609|79610|79611|79612|79613|79614|79615|79616|79617|98632|135296|135297|204258|204259|204260|204261|204262|204264|204278|204281|208866|265010|354269|470469|472050|492129|512586|534591|572191|572192|574268|575324|580763|585211|649663|649664|649665|649666|649667|653492|653687|653733|654142|677064|677065|717637|743141|773748|792121|818368|849600|849601|853026|861601|904883|929559|960361|972775", + "text": "Lowe syndrome" + }, + { + "baseId": "25899|25900|38926|38927|38928|79588|79604|204279|204280|265010|539123|539165|649667|921248|963313|971177|971178", + "text": "Dent disease type 2" + }, + { + "baseId": "25901|25903|25904|99463|131947|131948|131949|133666|134726|134728|134730|190332|191645|194880|205419|209101|209108|227679|264909|264918|273833|378441|378451|378452|378457|378466|378477|379317|379321|379449|379456|380077|380078|380082|380083|380084|380086|380087|384428|389192|411409|411411|411421|430836|430837|446696|446697|446698|446701|470880|471625|471626|471629|471633|471634|471637|471900|471903|471905|471908|471910|471913|472164|472165|495828|508598|508683|512701|513689|534387|534851|534852|534855|534856|534872|534881|534904|534905|534910|534911|534915|535032|535034|535036|535038|535040|535045|535046|535181|535182|535713|573913|573915|573921|573922|573923|574751|574803|574805|575431|575432|590809|590810|590811|611456|611471|611472|612123|650110|650111|650112|650113|650114|650115|650116|650117|650118|650119|650120|650121|650122|653790|677312|677473|694906|694907|706274|706275|717833|743393|745395|758559|758560|774111|774112|774113|774120|778527|786869|786873|792472|792473|792474|798346|800320|805131|805132|822229|822230|850168|850169|850170|850171|850172|850173|850174|850175|850176|850177|850178|850179|850180|850181|850182|850183|850184|850185|850186|850187|903653|904734|920040|920041|920042|929774|929775|929776|929777|929778|929779|929780|929781|939640|939641|939642|939643|939644|939645|939646|951852|951853|951854|959323|959324|959325|959326|959327|960390|963986|963987|964621|964622|967284|971217|972738|983656", + "text": "Mental retardation, X-linked 1" + }, + { + "baseId": "25902", + "text": "Mental retardation, X-linked 18" + }, + { + "baseId": "25905|25906|25907|25908|25909|45729|45730|99372|194866|195603|245218|245222|257770|338984|338985|338987|338992|338998|339001|339005|348561|348562|348579|352098|352099|352102|352780|352781|352782|352783|352784|352785|352786|404139|404461|470515|471328|534596|553573|575340|678981|678982|678983|678985|678988|678989|678990|678991|678992|678993|678994|678996|678997|678998|678999|679000|679002|684959|902835|902836|902837|902838|902839|902840|902841|902842|902843|902844|902845|971182", + "text": "Fanconi anemia, complementation group B" + }, + { + "baseId": "25910|25911|25912|25913|25914|25915|25916|25917|25918|25919|25920|25921|25922|25923|25924|25925|25926|25927|25928|25929|25930|25932|98677|98678|98679|142349|142367|198647|205341|208994|212003|212004|212009|212010|212014|212015|212016|212019|212020|269240|361087|361241|361266|363794|379176|379177|379181|379278|411240|411241|424351|426447|439032|481436|481437|481438|481439|508137|508510|508511|508641|534786|535124|552254|552255|552256|552257|574444|581767|581779|581780|590462|624873|649923|649924|649925|649926|649927|649928|677311|729539|743274|745466|773951|773953|773954|773956|776966|786776|786777|786778|792201|792202|798811|805128|816501|821496|849880|849881|849882|849883|858658|902942|902943|902944|902945|902946|902947|902948|902949|902950|902951|902952|902953|902954|902955|902956|902957|902958|902959|902960|902961|902962|902963|902964|902965|902966|902967|902968|902969|902970|902971|902972|902973|902974|902975|902976|902977|902978|902979|902980|902981|902982|903467|920003|920443|920444|939521|951703|964591|971198|973048|975876|980752", + "text": "Pyruvate dehydrogenase E1-alpha deficiency" + }, + { + "baseId": "25924|98679|140795|140797|140798|140799|140800|140801|140803|140804|140805|140806|142351|200131|200139|200140|211018|212002|292521|292526|295908|295924|295936|301480|301484|301488|301489|301493|301494|301500|301501|301503|301504|304711|304712|304731|304734|304735|304737|304738|304739|304740|304742|304743|304744|304760|309367|309368|309370|309371|309499|309501|309502|309504|309505|320296|327354|353651|353804|368842|488040|501526|514795|566277|615914|649923|734259|743274|743962|765983|786778|849883|897233|897234|897235|897236|897237|897238|897239|897240|897241|897242|897243|897244|897245|897246|897247|897248|897249|897250|897251|897252|897253|897254|897255|953582|977983|977984|977985|977986|977987|977988|977989|977990|977991|977992|980097|980098|980099", + "text": "Pyruvate dehydrogenase complex deficiency" + }, + { + "baseId": "25933|25934|25935|25936|424906|963981", + "text": "Mental retardation 9, X-linked" + }, + { + "baseId": "25937|25938|25939|25940|25941|25942|25943|25944|25945|25946|25947|25948|25949|76322|271618|338825|338827|338831|338832|348436|348446|348451|348452|348453|352051|352052|352053|352055|352056|352057|352744|352745|352746|352747|352748|534501|538284|538285|538286|539418|574193|575284|760829|849599|852961|902766|902767|902768|902769|902770|902771|902772|902773|929556|929557|929558|951587|951588|960972", + "text": "Lymphoproliferative syndrome 1, X-linked" + }, + { + "baseId": "25937|621676", + "text": "X-Linked Lymphoproliferative Syndrome" + }, + { + "baseId": "25950|25951|25952|25953|25954|25956|25957|25958|101661|101662|101663|101664|101665|101669|133972|137418|137424|137425|137430|137432|137433|137434|177520|177521|178422|178423|178424|191264|196044|209036|209037|209040|213667|243725|243815|257836|269266|271259|364216|404451|404579|411329|430780|431933|446645|470789|470791|471551|471556|471877|471878|471880|472148|472149|472150|472151|493731|513396|534811|534861|534863|534864|534866|534968|572483|572490|573860|574728|575411|575412|582122|612138|650040|650041|650042|650043|650044|650045|650046|650047|650048|653421|684995|684999|685000|685001|685003|685008|685009|685012|689497|689500|689501|689507|689509|717788|729582|786823|786824|786825|816502|821790|850039|850040|850041|850042|850043|850044|850045|850046|920018|920019|920020|929726|939592|951785|951786|951787|951788|951789|959296|964607|964608", + "text": "Oculofaciocardiodental syndrome" + }, + { + "baseId": "25959|25960|25963|25964|25965|25971|25975", + "text": "Granulomatous disease, chronic, X-linked, variant" + }, + { + "baseId": "25961|25962|25965|25966|25967|25968|25969|25970|25972|25973|25976|25977|25978|25979|44631|44632|44633|44634|44635|44636|44637|44638|44639|44640|79259|79263|79276|79277|79282|79303|79306|205028|260316|265008|360631|413820|470778|488042|534791|534794|534858|534859|534950|535161|535162|572471|573846|573852|574724|574726|612122|614507|614507|621692|650029|650030|650031|650032|650033|650034|650035|653677|653784|717787|729577|729578|743305|743306|743307|758475|771138|774012|774013|774015|774016|774018|774019|774020|786818|788371|792433|818401|821779|821780|821781|821782|821783|850017|850018|850019|850020|850021|850022|850023|850024|850025|850026|850027|851968|852515|917368|929719|929720|929721|929722|939584|939585|939586|951773|951774|951775|951776|951777|951778|951779|959284|959285|959286|959287|959288", + "text": "Chronic granulomatous disease, X-linked" + }, + { + "baseId": "25980|25981|25982|25983|25984|25985|25986|25987", + "text": "Deficiency of glycerol kinase" + }, + { + "baseId": "25988|25989|25990|25991|25992|25993|25994|25995|25996|25997|25998|25999|26000|26002|26003|26004|26005|26006|26007|26008|26009|26010|26011|26012|26013|26014|26015|26016|45325|45326|70525|227422|227422|247501|390700|422461|422461|437712|437713|437714|437715|437716|437717|437718|437719|437720|437721|437722|437723|437724|437725|437726|437727|437728|437729|437730|437731|437732|437733|437734|471455|471847|472119|485815|485816|485817|485818|485818|485819|485820|485821|485822|485823|573780|578591|581824|581824|612339|694856|706207|821614|849921|849922|849923|951734|966573|969543|976813", + "text": "Congenital adrenal hypoplasia, X-linked" + }, + { + "baseId": "26001|227422|422461|471455|471847|472119|485818|573780|581824|694856|706207|821614|849921|849922|849923|951734", + "text": "46,XY sex reversal, type 2" + }, + { + "baseId": "26017", + "text": "Mineralocorticoid deficiency, isolated" + }, + { + "baseId": "26018|26019|26020|26021|26022|26023|26024|101208|101209|339343|339345|348882|535359|538314|552259|798816|805049|903069|903070|903071|903072|903478|920032|920033|965889|966028|971208|976688", + "text": "Renpenning syndrome 1" + }, + { + "baseId": "26019|79446|137063|137063|137064|137064|137065|137065|153138|165849|166182|166183|166184|166185|166186|166187|166188|166189|166190|166191|166192|178411|178412|178415|248477|263202|263224|263249|263280|263289|263363|263393|263410|264749|322495|360857|360877|360939|360957|362170|426751|439633|439634|439635|513964|514016|514079|514090|514099|514170|514173|514201|514214|536013|536014|550129|550226|610430|610540|610541|610542|623596|623599|623600|623601|623602|678050|679483|801216|802096|805068|858271|861048|861284|965459|984026|984027|984028|984029|984030|984031|984032|984033|984034|984035", + "text": "Delayed speech and language development" + }, + { + "baseId": "26019|263289|360889|360996", + "text": "Hyperactivity" + }, + { + "baseId": "26025|26026|26027|26028|26029|26030|26031|26032|26033|26035|26037|26038|26039|26040|26041|26042|26045|26046|26047|26048|26049|26050|26051|26052|26053|99127|99130|102992|102996|102999|103004|103006|103009|103010|103014|103028|103044|103050|103051|103054|103066|103067|103082|103084|103088|103090|103108|103119|103120|103129|103144|103147|103159|103162|103166|103167|103176|103191|103194|103205|103225|103229|103242|103257|103258|103263|103264|135313|171249|200389|213950|237753|257833|257835|339172|339179|348725|348727|352221|352224|352226|352227|379267|424256|446640|446643|480410|480413|480414|480415|480416|480536|488051|508255|508256|512654|514136|534860|534957|534965|535165|572127|572472|572475|573855|575304|580777|612172|650039|670077|694876|743309|743310|758478|774025|788361|792446|792447|792448|792449|821501|821787|821788|821789|850033|850034|850035|850036|850037|850038|853041|858480|858481|858482|858483|858487|858488|858489|858490|858491|858492|858493|858494|858495|858496|858497|858498|858772|903034|903035|903036|903474|903697|903698|903699|917369|920017|921447|921529|929724|929725|939587|939588|939589|939590|939591|951781|951782|951783|951784|959292|959293|959294|959295", + "text": "Ornithine carbamoyltransferase deficiency" + }, + { + "baseId": "26033", + "text": "ORNITHINE TRANSCARBAMYLASE POLYMORPHISM" + }, + { + "baseId": "26055|26056|26057|26058|26059|26060|26061|99573|99574|99575|99576|99577|99578|99579|99581|99582|99583|142293|142294|142296|142299|142300|142301|142303|142304|169839|169840|169841|169842|169843|169844|169845|169846|169847|177303|190356|190361|190362|195290|203869|203872|203874|203875|203876|203879|203880|203886|203887|203891|203892|203897|203902|203905|203907|203911|203912|203913|203915|203917|203919|203921|203922|203923|203925|203926|203932|203939|203950|208821|208822|213663|271364|271785|361419|377638|377640|377645|378778|378882|404007|404010|404011|404037|404042|404418|404419|404452|404458|411060|413846|415727|438970|439889|442357|442358|446438|446440|446441|446447|470389|470436|470437|471206|471207|471208|471210|471655|471657|472032|472033|472034|472035|472036|472037|472038|472039|495779|507637|507726|508457|534371|534405|534410|534414|534418|534422|534441|534444|534450|534451|534560|534561|534565|534955|534960|534963|538624|552236|552237|572128|572130|572133|572135|572137|572148|572149|573488|573492|573497|573500|574221|574230|574231|575306|575307|575308|575309|575310|575311|575312|580592|580706|580711|580724|580730|580852|580855|610524|611437|614495|614496|623168|625826|649562|649563|649564|649565|649566|649567|649568|649569|649570|649571|649572|649573|649574|649575|649576|649577|649578|649578|649579|649580|649581|649582|649583|649584|649585|649586|649587|649588|653428|653429|653485|653632|653734|653771|680059|684924|689296|689300|689301|694757|694759|758195|773651|773655|789135|792085|792086|792087|792088|792089|792090|792091|792092|792093|792094|792095|792096|792097|794343|794344|794345|794346|794348|794349|794351|794352|802039|802040|802041|806145|821534|821535|821536|821537|821538|849469|849470|849471|849472|849473|849474|849475|849476|849477|849478|849479|849480|849481|849482|849483|849484|849485|849486|849487|849488|849489|849490|849491|849492|849493|849494|849495|849496|849497|849498|849499|849500|849501|849502|849503|849504|849505|852951|852952|852953|858358|858359|858360|858361|858362|858363|858364|858365|858515|917737|919963|919964|929514|929515|929516|929517|929518|929519|929520|929521|929522|929523|929524|929525|939369|939370|939371|939372|939373|939374|939375|939376|939377|939378|939379|939380|951538|951539|951540|951541|951542|951543|951544|951545|951546|951547|951548|951549|951550|951551|951552|951553|951554|951555|951556|951557|959138|959139|959140|959141|959142|959143|959144|959145|962866|963942|964559|964560|964561|964562|964563|965747|969568|971167", + "text": "Early infantile epileptic encephalopathy 9" + }, + { + "baseId": "26062|26063|26064|26065|26066|26067|102525|102527|102528|102531|102532|102533|102538|135215|135219|135220|135221|135223|177176|177308|188072|193759|195450|195455|208983|208987|227708|362596|430751|430753|470640|470642|470647|471426|471608|472111|534359|534679|534771|572367|573752|575279|575375|580756|580885|611936|649895|706184|729529|743266|758409|792183|821571|849847|849848|849849|849850|959215", + "text": "Nance-Horan syndrome" + }, + { + "baseId": "26068|26069|177308|208983|919997", + "text": "Cataract 40" + }, + { + "baseId": "26070|26070|26071|26072|26073|26074|26074|26075|26076|26077|26078|26079|26080|26081|26082|26085|26086|26087|40564|48190|53352|53354|53355|53357|53358|53359|53360|53361|53362|53363|53364|53365|53366|53367|53369|53370|53371|53372|53376|53377|53378|53380|53382|53383|176310|176311|176312|176324|176325|176327|176328|176330|176432|176433|176434|176435|176445|176446|176447|176448|176450|176451|176452|231286|231287|231289|231291|231292|231292|231293|231294|231296|247465|247466|247467|257866|260338|260340|379504|380105|411448|422942|446737|470380|470433|470922|470927|471201|471669|471956|471957|471958|471959|471960|472186|472187|534391|534513|534909|534912|534933|534936|534942|535048|535053|535054|535055|573965|573970|574827|574868|574869|574870|574871|574874|574875|575440|575441|610258|612124|650159|650160|650161|650162|650163|650164|650165|653369|653372|653469|653539|653678|653718|653770|679215|689535|689536|694917|706295|706296|706297|706298|758620|774175|774177|792491|792492|798820|821794|821795|850219|850220|850221|850222|850223|853044|853045|929796|939661|941314|951864|951865|951866|959333|980108|980109", + "text": "Hypohidrotic X-linked ectodermal dysplasia" + }, + { + "baseId": "26070|26074|26083|26084|26087|132579|231292|247464|247465|247466|613835", + "text": "Tooth agenesis, selective, X-linked, 1" + }, + { + "baseId": "26088|38923|133899|133900|226995|269241|271358|378527|379337|379342|379350|379477|379488|424678|426483|430872|446726|470882|470894|471649|471651|471652|472168|472169|472170|486788|492992|508686|534887|534888|534890|534924|535714|572553|573940|573941|573945|574815|574817|575435|575436|575437|581020|581102|650132|650133|650134|650135|650136|650137|650138|650139|650140|653792|653907|689533|690277|743428|743429|792485|792611|802053|802067|822232|822233|850202|850203|850204|850205|850206|850207|920048|929788|929789|929790|939654|939655|940567|941313|959329|963193|964628|976689|980510", + "text": "Early infantile epileptic encephalopathy 8" + }, + { + "baseId": "26089|268952", + "text": "Asperger syndrome X-linked 2" + }, + { + "baseId": "26089|26090|26091|101876|268952|361250|552264|818377|964627", + "text": "Autism, susceptibility to, X-linked 2" + }, + { + "baseId": "26090|26091|166020|208879|338922|339091|339605|339609|339610|339629|348476|348494|348655|348674|348817|348863|349099|349107|349108|349119|349120|351947|352171|352188|352269|352272|352278|352459|352464|352714|352758|352761|352762|352811|352823|352824|352856|352881|352954|352964|352967|352968|352969|352975|352976|352978|352979|353861|353865|353868|430619|486700|970102|972842|973005", + "text": "Non-syndromic X-linked intellectual disability" + }, + { + "baseId": "26102|26103|26104|26105|26106|26107|26108|26109|26110|26111|102115|135332|135333|138770|143192|215102|244000|361966|431931|481264|481443|585634|612169|792589|849662|920436|951615|964699|971180", + "text": "Borjeson-Forssman-Lehmann syndrome" + }, + { + "baseId": "26112|26113|26114|26115|26116|26117|26118|26119|26120|26121|26125|26132|26133|26135|26138|205797|208829|222879|384416|404041|425233|488162|495615|535711|538274|552238|552239|552240|612344|614612|623125|792104|792105|804833|804911|804912|804913|919966|919967", + "text": "Pelizaeus-Merzbacher disease" + }, + { + "baseId": "26122|26130", + "text": "Pelizaeus-Merzbacher disease, connatal" + }, + { + "baseId": "26123|26124|26128|26129|26131|26137|99139|99142|135421|222879|222880|262412|274662|404041|404041|404425|404473|424601|471675|471677|481448|534374|534434|534442|552238|552240|572164|573518|649623|649624|653272|653727|653772|679570|679572|806147|821474|849542|929538|939393|939394|941284|960354", + "text": "Hereditary spastic paraplegia 2" + }, + { + "baseId": "26126|26127", + "text": "Pelizaeus-Merzbacher disease, mild" + }, + { + "baseId": "26129|26136", + "text": "Pelizaeus-Merzbacher disease, atypical" + }, + { + "baseId": "26139|26140|26141|26142|26143|26144|26145|26146|26147|26148|26149|26150|26151|44181|45455|51424|51425|51426|51427|51429|51431|51434|51435|51440|143091|143093|176309|176911|178190|178191|178197|178206|198557|198559|198560|198561|222884|224586|232152|243780|243781|243782|339057|348271|352158|352159|352160|352795|352796|352797|404498|404531|411200|415753|424452|424569|427120|446585|470627|471415|472106|481484|508958|508959|534659|534750|534757|534759|551752|573735|574373|575372|575373|649883|649884|649885|649886|649887|649888|649889|649890|649891|649892|653360|653450|653507|653703|679552|684977|689437|694843|798809|849833|849834|849835|849836|849837|849838|849839|849840|852477|852480|852971|853033|902885|902886|902887|902888|902889|902890|902891|903462|929630|929631|929632|941290|951686|951687|960370|980973", + "text": "3-Methylglutaconic aciduria type 2" + }, + { + "baseId": "26152|26153|26154|26154|26158|26159|26160|26162|26163|26167|26168|26169|26170|26171|26171|26172|26173|26174|38922|45569|45570|45571|45572|45572|45573|45574|139149|139150|139152|139153|139153|193420|209070|257843|257844|260329|272093|360647|360647|380065|380066|411388|411388|438442|446680|471605|487893|487984|488052|488054|488054|534824|534891|535002|535004|535176|539188|572504|572507|572514|573887|573889|574738|574741|575421|575422|575423|575424|621694|626360|626361|626362|626363|650078|650079|650080|650081|650082|650083|650084|650085|650086|650087|653787|653788|653789|685015|685016|689515|689516|689517|689518|743358|786849|821506|821507|821509|822226|822334|822335|850091|850092|850093|850094|850095|850096|850097|850098|850099|850100|850101|850102|850103|850104|858661|917576|929746|929747|929748|929749|929750|929751|929752|939609|939610|939611|951813|951814|951815|959310|959311|965873", + "text": "Wiskott-Aldrich syndrome" + }, + { + "baseId": "26154|26162|26164|26171|38921|38922|38922|45569|45570|45572|45573|139149|139150|139152|139152|139153|193420|209070|231093|257843|257844|260329|272093|360647|380066|411388|438442|446680|446681|471605|488054|534824|534891|535002|535004|535176|572504|572507|572514|573887|573889|574738|574741|575421|575422|575423|575424|650078|650079|650080|650081|650082|650083|650084|650085|650086|650087|653787|653788|653789|685015|685016|689515|689516|689517|689518|743358|786849|792462|792463|821506|821507|821509|822226|850091|850092|850093|850094|850095|850096|850097|850098|850099|850100|850101|850102|850103|850104|929746|929747|929748|929749|929750|929751|929752|939609|939610|939611|951813|951814|951815|959310|959311|971207|980208", + "text": "X-linked severe congenital neutropenia" + }, + { + "baseId": "26154|26155|26156|26157|26162|26162|26168|26171|38922|45569|45570|45572|45573|45573|139149|139150|139152|139153|193420|209070|257843|257844|260329|260329|272093|360647|380066|411388|438442|446680|471605|487890|488054|488054|534824|534891|535002|535004|535176|572504|572507|572514|573887|573889|574738|574741|575421|575422|575423|575424|650078|650079|650080|650081|650082|650083|650084|650085|650086|650087|653787|653788|653789|685015|685016|689515|689516|689517|689518|743358|786849|818375|821506|821507|821509|822226|850091|850092|850093|850094|850095|850096|850097|850098|850099|850100|850101|850102|850103|850104|929746|929747|929748|929749|929750|929751|929752|939609|939610|939611|951813|951814|951815|959310|959311", + "text": "X-linked thrombocytopenia with normal platelets" + }, + { + "baseId": "26161", + "text": "Wiskott-Aldrich syndrome, attenuated" + }, + { + "baseId": "26165|26166", + "text": "Thrombocytopenia, X-linked, intermittent" + }, + { + "baseId": "26175|26176|26177|26178|26179|26180|26181|26182|26183|26184|26185", + "text": "Amelogenesis imperfecta, type 1E" + }, + { + "baseId": "26186", + "text": "Choroideremia, Salla type" + }, + { + "baseId": "26187|26188|26189|26190|26191|26192|26193|26195|48408|70863|104603|152796|187074|195885|265129|269993|274635|354188|358694|380133|434442|446803|623370|623371|623779|689584|689585|694963|694964|694966|694968|695913|695914|717876|786939|792514|792515|792516|792517|800325|800661|800662|800663|800709|801497|801498|801499|801500|801501|850345|920074|959378|980122|980123|980124|980125", + "text": "Choroideremia" + }, + { + "baseId": "26196|26198|26199|26200|26201|26202|26203|26204|26205|26206|26207|26208|26209|44475|44476|44477|44478|271617|378901|424451|433402|472066|508948|508949|534547|534636|534871|535049|573597|574313|574314|574317|574319|621678|621878|624712|649724|649725|649726|649727|649728|653301|653378|653494|729427|743160|758303|758305|773777|786708|818400|821561|849675|849676|849677|849678|849679|849680|849681|849682|849683|939451|939452|939453|951623|951624|951625|964569|972613", + "text": "Hyper-IgM syndrome type 1" + }, + { + "baseId": "26210|26211|26212|26213|26214|26215|26216|26217|26218|26219|44694|51441|51442|51443|51444|51446|51448|98350|176796|178262|178291|195204|198541|198543|198545|198546|198549|198550|198551|224585|231344|231345|236821|236822|243723|243778|243779|264819|265324|269284|269369|270689|273723|274394|274742|274863|377994|379996|404179|404492|411198|415752|426729|426731|426732|426734|426737|438475|442404|471411|471836|472104|472105|489682|490413|492103|534655|534658|534737|534740|534763|535110|535112|535113|573442|573733|574371|575278|608976|609159|621689|649878|649879|649880|649881|649882|653353|653729|653731|656755|684976|689435|689436|694842|758387|758388|773911|773913|773914|786753|786754|792171|821488|821493|849825|849826|849827|849828|849829|849830|849831|849832|852474|853032|929628|929629|939502|939503|939504|951684|951685|959205|959206|959207|959208|963192", + "text": "Emery-Dreifuss muscular dystrophy 1, X-linked" + }, + { + "baseId": "26220|26222|26223|961991", + "text": "Properdin deficiency, X-linked" + }, + { + "baseId": "26221", + "text": "Properdin deficiency, type II" + }, + { + "baseId": "26224", + "text": "Properdin deficiency, type III" + }, + { + "baseId": "26225|26229|26231|26232|26233|26234|26236|26244|102349|167588|167589|167592|167594|167596|167604|167607|167613|209010|209011|209012|209013|209014|209017|209018|209022|209024|209026|209312|232150|271260|430771|573774|676972|983472", + "text": "Lissencephaly 2, X-linked" + }, + { + "baseId": "26225|26226|26226|26233|26237|26238|26238|102345|102347|102348|102348|102349|102350|140124|166526|167591|167601|167602|167603|167606|167608|167610|192561|192562|192564|194533|209009|209021|209024|209028|225842|232150|237434|243787|272619|364009|378138|379290|379292|404176|404510|404513|404534|404534|404535|411306|430770|470657|470658|471843|471844|472116|472117|472118|508145|508522|512648|534398|534701|534706|534707|534789|534792|534801|534806|535127|535128|572392|572394|573773|573774|573774|573776|574494|574525|575383|575384|580902|580943|586384|609301|614670|649936|649937|649938|649939|649940|649941|649942|649943|649944|649945|649946|653385|653637|689455|689457|689459|690269|773967|806383|806383|822223|849914|849915|849916|849917|849918|860837|917753|929675|929676|929677|929678|929679|929680|929681|939544|939545|939546|951723|951724|951725|951726|951727|951728|951729|951730|951731|951732|951733|959236|959237|977301", + "text": "Mental retardation, with or without seizures, ARX-related, X-linked" + }, + { + "baseId": "26226|232150|573774|806383", + "text": "Partington syndrome" + }, + { + "baseId": "26239|232150|573774|806383", + "text": "Corpus callosum agenesis-abnormal genitalia syndrome" + }, + { + "baseId": "26240|430769", + "text": "Hydranencephaly with abnormal genitalia" + }, + { + "baseId": 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+ "text": "Duchenne muscular dystrophy" + }, + { + "baseId": "26247|26330|488359", + "text": "Becker muscular dystrophy, atypical" + }, + { + "baseId": "26252|26265|26266|26269|26276|26280|26287|26308|26315|26316|26319|26322|26325|26327|38917|100328|100376|100476|100484|100641|100657|100663|100676|100683|100705|100761|100763|140808|140808|140809|140820|171247|171248|172184|175867|177179|190826|192114|193039|198573|227452|243790|259052|266735|268525|273828|361092|361267|361273|361890|361891|404548|434711|470740|470754|471519|485824|485825|485826|485827|488725|492088|511143|513395|535156|550770|550778|574640|588159|611449|613947|649954|743300|792329|792336|801559|816418|816419|816420|816432|939579|961398|964604|972405|972406|972407|972408|972409|972410|972411|972412|972413|972414|972415|972416|972417|972418|972419|972420|972421|972422|972423|972424|972425|972426|972427|972428|972429|972430|972431|972432|972433|972434|972435|972436|972437|972438", + "text": "Becker muscular dystrophy" + }, + { + "baseId": "26270|26306|26307|26308|26318|26320|26321|26324|26327|38917|100296|100319|100322|100328|100333|100336|100346|100353|100361|100367|100371|100373|100376|100382|100387|100394|100395|100410|100413|100416|100424|100428|100439|100448|100454|100476|100487|100500|100503|100504|100515|100516|100517|100518|100532|100537|100542|100548|100556|100557|100558|100574|100575|100579|100583|100602|100603|100641|100642|100647|100656|100657|100657|100665|100667|100671|100676|100683|100684|100705|100709|100716|100744|100754|171247|172184|175867|177179|177586|189047|190826|191904|192008|192114|192653|193039|193288|195522|198564|198572|198573|198582|198589|198591|198593|227852|231251|243790|243791|243795|243801|257810|259052|259180|266198|266626|266724|266740|268949|268969|269184|269255|269456|269576|269952|270216|273824|273828|274569|274769|339148|339149|339150|339152|339153|339159|339160|339164|339167|348271|348676|348677|348683|348684|348687|348688|348694|348695|348701|348702|348704|348706|348708|348709|348710|348715|348716|348717|348718|348724|352198|352199|352200|352201|352202|352203|352204|352205|352206|352207|352209|352218|352220|352831|352832|352833|352834|352835|352836|352837|352838|352839|352840|352841|352842|352843|352844|352845|361092|361095|361096|361890|361891|378257|378274|404223|404247|404548|470740|470754|471508|471854|508085|508551|510939|510940|511143|514135|534733|534880|538509|550778|572451|574640|611449|649974|649978|677126|689472|689476|689483|694861|694871|706211|758468|902999|903000|903001|903002|903003|903004|903005|903006|903007|903008|903009|903010|903011|903012|903013|903014|903015|903016|903017|903018|903019|903020|903021|903022|903023|903024|903025|903026|903027|903028|903029|903030|903031|903032|903033|903472|903473|920009|920010|920011|920012|920013|920448|920449", + "text": "Dilated cardiomyopathy 3B" + }, + { + "baseId": "26275", + "text": "Duchenne muscular dystrophy, mental retardation, and absence of erg b-wave" + }, + { + "baseId": "26277|26285|26313", + "text": "Intermediate muscular dystrophy" + }, + { + "baseId": "26312", + "text": "X-linked DMD-related dystrophinopathy" + }, + { + "baseId": "26331|26332|26333|26335|26336|26337|26338|26339|26340|26341|26342|26343|26344|26345|26346|26347|26348|26349|26351|26352|26353|26354|26355|26356|44302|44303|44304|44305|44306|44307|44308|98224|98225|98226|98227|98228|98231|98232|98234|171860|177044|177307|177455|177456|190198|190199|194257|195849|215175|215617|215618|215619|215620|265573|266490|273515|275414|339010|339017|339024|339026|339030|339036|339037|339041|348580|348582|348583|348584|348587|348588|348591|348593|352105|352107|352108|352113|352114|352117|352118|352123|352124|352787|352788|352789|352790|352791|353864|353952|360538|363912|377878|378997|379086|379953|379954|379955|411157|415746|422426|422427|422428|430689|438468|438469|442393|470545|470547|470556|470564|470573|470574|470576|471350|471351|471354|471356|471792|471798|471802|471808|472082|472083|472084|472085|472086|472087|472260|481244|507926|508957|513481|513683|514125|534499|534587|534588|534597|534599|534629|534632|534649|534657|534667|534673|534675|534678|534682|534687|534689|535077|535079|535081|537590|549826|553405|572269|572278|572284|572292|572295|572300|573651|573654|573655|573666|574336|574337|574338|574345|574347|575354|575355|575356|575357|575358|576356|576357|576358|577937|577938|577940|580678|580835|580978|581916|610687|610689|612113|612114|612115|612116|612117|612118|612119|612120|614106|620698|623388|649771|649772|649773|649774|649775|649776|649777|649778|649779|649780|649781|649782|649783|649784|649785|649786|649787|649788|649789|649790|649791|649792|649793|649794|649795|649796|653308|653310|653348|653627|653695|653738|656741|677040|677042|677061|677063|679725|679726|679727|681814|682736|694817|694818|694819|694820|694821|694823|694824|695900|706146|706147|717705|729480|729481|729482|729484|743206|773862|773864|773865|773866|773867|773868|780091|786738|786741|792142|792143|792144|792145|792146|792147|792148|792149|792150|821487|821568|821569|821570|849731|849732|849733|849734|849735|849736|849737|849738|849739|849740|849741|849742|849743|849744|849745|849746|849747|849748|849749|849750|849751|849752|849753|849754|849755|849756|849757|849758|849759|849760|849761|849762|849763|849764|849765|851942|858542|858694|858716|860801|861087|861088|861126|902846|902847|902848|902849|902850|902851|902852|902853|902854|902855|902856|902857|902858|902859|902860|902861|902862|902863|902864|902865|902866|902867|902868|902869|902870|903461|919981|920440|929600|929601|929602|929603|929604|929605|929606|929607|929608|939471|939472|939473|939474|939475|939476|941287|951641|951642|951643|951644|951645|951646|951647|951648|951649|951650|951651|951652|959188|959189|960365|961415|962187|962912|964573|964574|964575|964576|964577|964578|969328|971586|980091|980092|980093|980094|983471|983568|983803", + "text": "Adrenoleukodystrophy" + }, + { + "baseId": "26349|26350", + "text": "Addison's disease" + }, + { + "baseId": "26357|26358|26359|26360|26361|26362|26363|26364|26365|34245|34246|792099|918496", + "text": "Deafness dystonia syndrome" + }, + { + "baseId": "26366", + "text": "Asperger syndrome X-linked 1" + }, + { + "baseId": "26366|920459", + "text": "Autism, susceptibility to, X-linked 1" + }, + { + "baseId": "26367|26368|26369|26370|26371|26372|26373|26374|26375", + "text": "Cleft palate with ankyloglossia" + }, + { + "baseId": "26376|339549|339550|339552|339558|339559|339561|349035|349041|349045|349047|352446|352447|352947|352948|352949|352950|352951|439183|717870|729719|743485|792511|903209|903210|903211|903212|903213|903214|903215|903484|903485|903486", + "text": "Cleft palate with or without ankyloglossia, X-linked" + }, + { + "baseId": "26377|26378|26379|191793|205357|205358|362397|411119|415736|439626|470456|470461|471241|495790|508486|514278|535007|535008|615948|649658|653901|729380|792117|849584|858584|951583|964567|976677", + "text": "Syndromic X-linked mental retardation, Cabezas type" + }, + { + "baseId": "26378|39226|49024|178380|181426|181431|181448|181453|203766|226235|226236|263192|263224|263257|263264|263284|263332|263344|263346|263360|263364|263405|263996|264749|360870|360912|361101|408757|513978|514048|514112|514124|514176|514199|514211|551271|551272|576328|590545|609036|609079|610516|610519|622034|622207|622834|623603|678949|905852|905853|905854|961035|971289|971411", + "text": "Abnormal facial shape" + }, + { + "baseId": "26381|26382|26383|26384|26385|26387|26388|26390|26391|26392|26393|26394|26395|26396|26397|26398|26399|26400|26401|26402|26403|26404|26405|26405|26406|26407|26408|26409|26411|26412|26413|26414|26415|26416|26417|26418|26419|26421|26422|26423|26424|26425|26426|26427|26428|26429|26430|26431|26432|26433|26434|26435|26436|44421|44422|44423|44424|44425|44426|44427|44428|44429|44430|192073|237392|237392|257719|265134|270564|338671|338673|338675|338677|348274|348276|351929|351930|351932|352708|485806|485808|487874|488019|488067|553416|610420|621657|621658|621659|621660|621875|649592|758201|792100|792101|792102|902683|902684|902685|902686|902687|917331|917332|917333|961900", + "text": "X-linked agammaglobulinemia" + }, + { + "baseId": "26381|26387|26402|26416|26422|29848|29849|29851|29852|166058|416155|433631|433632|485798|485799|485800|485801|485802|485803|485804|485805|485806|485807|485808|485809|485810|578566|799759|799760|961903", + "text": "Autosomal recessive agammaglobulinemia 1" + }, + { + "baseId": "26381|26386|26387|26397|26402|26405|26410|26415|26416|26417|26420|26422|44425|44426|192073|237392|237392|257719|265134|270564|338671|338673|338675|338677|348276|351929|351930|351932|352708|363082|363083|378894|446452|470443|470445|472042|472043|485801|485806|534429|534455|534459|534978|572151|573508|573515|574234|574235|574236|574241|574243|621657|621660|621875|624703|649591|649592|649593|649594|649595|649596|649597|649598|649599|649600|649601|649602|649603|649604|649605|649606|649607|649608|649609|649610|649611|649612|649613|649614|649615|653432|653680|729328|743061|743062|758201|821540|821541|849509|849510|849511|849512|849513|849514|849515|849516|849517|849518|849519|849520|852450|852533|852954|852955|902683|902684|902685|902686|902687|917333|920432|929528|929529|929530|939384|939385|939386|939387|939388|940538|940539|940540|940541|951558|951559|951560|951561|959147|960353|960970", + "text": "X-linked agammaglobulinemia with growth hormone deficiency" + }, + { + "baseId": "26384|28188|29043|33344|39043|45898|76319|94255|125897|153737|205148|226599|359705|409927|424449|472216|549127|557045|570568|620059|621659|624766|650944|791014|799281|801876|815884|815885|815886|815887|815888|815889|815890|815891|815892|815893|815894|815895|815898|815901|815903|815904|815905|815906|815907|815908|815909|815910|815911|815912|815913|815914|815915|815916|815917|815919|815921|815922|815923|815924|815928|815929|815930|815931|815932|815933|815934|815935|815936|815937|815938|815939|815940|815941|815942|815944|815945|815947|815948|815949|815950|815951|815952|815953|815954", + "text": "Inherited Immunodeficiency Diseases" + }, + { + "baseId": "26389", + "text": "Hypogammaglobulinemia, X-linked" + }, + { + "baseId": "26438|26439|26440|195769|208853|208854|411112|481502|538503|575321|689331|792116|798802|905860|976676", + "text": "Mental retardation, syndromic 14, X-linked" + }, + { + "baseId": "26441|26442|26443|26444|26445|132417|513685|581217|920006|920007|920547|920548|920549", + "text": "IFAP syndrome with or without BRESHECK syndrome" + }, + { + "baseId": "26446|26447|26448|26449|26450|26451|26452|26453|26454|26455|26456|26457|26458|134557|209083|209084|430820|430821|430822|470878|534837|534899|535026|540039|572527|572529|573903|573904|574750|614509|650102|650103|650104|650105|650106|654154|679834|706261|717811|717812|729636|743383|786860|822228|850160|850161|850162|850163|850164|850165|851974|929764|929765|929766|929767|929768|929769|929770|939637|939638|941312|951848|951849|951850|951851|980491", + "text": "Insulin-dependent diabetes mellitus secretory diarrhea syndrome" + }, + { + "baseId": "26459|26460|26461|26462|26463|26464|192535|339181|339183|339192|339195|339198|339204|348731|352228|352230|352846|352847|352848|352849|352850|352851|587381|774037|903037|903038|903039|903040|903041|903042|903043|903044|903045|903046|903047|920026", + "text": "Congenital stationary night blindness, type 1A" + }, + { + "baseId": "26465|26466|26467|26468|26469|26470|34117|34119|170077|170078|170079|170081|170082|170085|208917|788950|792136", + "text": "Child syndrome" + }, + { + "baseId": "26471|133896|208881|446508", + "text": "Mental retardation 46, X-linked" + }, + { + "baseId": "26472|26473|26475|26476|26477|26478|26479|26480|141661|141662|187961|213507|243722|257760|263864|338963|338964|348520|348522|348525|348530|348531|352091|352092|352774|352775|352776|404133|471742|471745|535052|535056|536053|536054|536055|536056|536057|572245|573607|573609|574323|649730|649731|805125|849690|849691|902817|902818|902819|902820|902821|902822|902823|902824|902825|902826|902827|902828|902829|929580|939455|951626|951627", + "text": "Heterotaxy, visceral, 1, X-linked" + }, + { + "baseId": "26474|26478", + "text": "Congenital heart defects, multiple types, 1, X-linked" + }, + { + "baseId": "26478|38910|99372|187961|194866|195603|205672|245218|245222|257770|338963|338964|338984|338985|338987|338992|338998|339001|339005|348520|348522|348525|348530|348531|348561|348562|348579|352091|352092|352098|352099|352102|352774|352775|352776|352780|352781|352782|352783|352784|352785|352786|404139|404461|470515|471328|534596|575340|684959|902817|902818|902819|902820|902821|902822|902823|902824|902825|902826|902827|902828|902829|902835|902836|902837|902838|902839|902840|902841|902842|902843|902844|902845", + "text": "VACTERL association, X-linked, with or without hydrocephalus" + }, + { + "baseId": "26478|187961|338963|338964|348520|348522|348525|348530|348531|352091|352092|352774|352775|352776", + "text": "Congenital heart defects 1, nonsyndromic, 1" + }, + { + "baseId": "26481|26482|26483|26484|26485|101001|153772|199813|248741|265040|430846|578597|801552|961794|964624", + "text": "HSD10 disease" + }, + { + "baseId": "26486|26487|26488|26489|26490|26491|26496|26497|360602|446591|610414|614505|905011|905015|919992|963310", + "text": "Incontinentia pigmenti syndrome" + }, + { + "baseId": "26489|26496|446591|905011|905015", + "text": "ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED" + }, + { + "baseId": "26492|26493|26495|26498|26499|26500|26501|26502|26505|45041|45042|45043|45044|45045|45046|79130|360602|424453|614505", + "text": "Ectodermal dysplasia and immunodeficiency 1" + }, + { + "baseId": "26503|614505", + "text": "Immunodeficiency without anhidrotic ectodermal dysplasia" + }, + { + "baseId": "26504|26506|26507|26508|79125|79126|614505|905009|905010|905014", + "text": "Familial atypical mycobacteriosis, type 1, X-linked" + }, + { + "baseId": "26509|26510|26511|26513|140225|140226|257851|257853|257854|257855|339425|352342|352343|352916|620699|903111|903112|903113|903114|961490|961491|961492", + "text": "Ovarian dysgenesis 2" + }, + { + "baseId": "26510|26511|26512|26513", + "text": "Premature ovarian failure 4" + }, + { + "baseId": "26515|26516|26517|26518|38904|97547|101275|142903|142904|142906|142907|142909|142910|142911|142912|142913|142914|169937|169938|169939|169940|169941|169942|203981|203985|203986|203988|245213|362395|377787|404120|404453|411132|426407|471285|471288|471722|471733|471736|472064|472065|508507|534533|572224|573553|575333|580775|613522|615978|649712|649713|649714|649715|649716|758301|773769|792124|792125|794082|798807|802043|821559|849665|849666|929573|929574|929575|929576|939442|939443|939444|951617|951618|951619|960973|976678|976679", + "text": "Christianson syndrome" + }, + { + "baseId": "26519|26520|26521|38899|209030|265258|339130|339135|339137|339138|339141|348672|352192|352194|352196|352825|352826|352827|352828|352829|352830|583205|611448|611470|792253|801566|902994|902995|902996|902997|902998|903470|903471|964603|971202", + "text": "Intellectual disability, X-linked 21" + }, + { + "baseId": "26522|26523|26524|26525|26526|26527|26528|26529|26530|26531|170113|170114|170115|170116|170117|170118|170119|170120|170121|170122|170123|170124|170125|170126|170127|170128|170129|170130|170131|170132|170133|170134|170135|170136|209064|209065|209066|209067|209068|209069|792460|792461|798815|977305", + "text": "Chondrodysplasia punctata 2 X-linked dominant" + }, + { + "baseId": "26532|170113|205599|205600", + "text": "MEND syndrome" + }, + { + "baseId": "26533|26534|26535|26536|26539|26540|26541|26541|26542|26543|26544|26544|33489|33489|100006|100007|100008|100009|100010|100011|100011|100012|100012|100013|100013|100015|140412|140414|140415|140416|140417|140419|153499|153500|153501|153502|153503|153504|153505|153507|153509|153510|153511|153511|153512|153512|153513|153513|153515|153516|153516|153517|153518|153518|153520|153522|153523|153524|153525|153527|153528|153531|153532|153533|153534|153536|153537|153538|153539|153540|153541|153541|153542|153543|153544|153550|153551|153552|153553|153554|153555|153555|153556|153557|153558|153559|153559|153560|153562|153562|153563|153564|153565|153567|153568|153569|153570|153571|153572|165869|165869|165876|165877|165883|165886|165889|165891|165893|166453|166460|166514|166538|166539|166540|166544|166545|166547|166547|166548|170096|170097|170098|170099|170100|170101|170102|170104|170106|170107|170108|187436|187438|187439|187440|187441|187443|187444|187445|187446|187447|187448|187449|187451|187452|187453|187577|187580|187584|187586|187587|187591|187593|187595|187597|187598|187600|187605|187608|187618|187620|187621|187622|187624|187624|187625|187627|187632|191662|208989|208990|208993|214546|214547|227924|228220|243784|257790|257791|272497|360565|360605|362354|363972|378006|378025|379152|379159|379266|403990|404159|404163|404186|404509|411214|411215|411218|411223|411227|411231|426443|430758|430759|430760|430761|430972|435196|446600|470650|471428|471431|471434|471435|471436|471841|472112|472113|472114|480623|481345|481346|482246|482247|486783|486784|486785|488163|507990|508000|508099|508483|508488|508960|534520|534680|534683|534686|534690|534694|534765|534772|534773|534778|535117|535118|535119|535120|535121|535122|539111|539112|552251|552252|552253|552253|572370|572373|572376|572379|573755|573760|574188|574377|574380|574438|574440|575376|580760|580887|580917|611442|614506|649896|649897|649898|649899|649900|649901|649902|649903|649904|649905|649906|649907|649907|649908|649909|649910|649911|649912|653384|653782|656757|689451|689452|690267|758415|758415|786768|792184|792185|792186|792187|792188|792189|792190|792191|792192|792193|792194|798249|802047|802048|802065|802066|821495|821572|821573|821574|821575|821576|821577|822221|822222|849851|849852|849853|849854|849855|849856|849857|849858|849859|849860|849861|849862|849863|849864|849865|849870|849874|851950|852483|852972|852972|858367|858368|858369|858370|858371|858372|858373|858374|858375|858376|858377|858381|858382|858516|904944|904945|904946|906351|917738|917738|920000|920000|920442|929637|929638|929639|929640|939507|939508|939509|939510|939515|939516|939517|940548|941292|941293|951692|951693|951694|951695|951696|951697|951698|959216|959217|959218|959219|960372|960977|960978|964586|964587|964588|964589|964590|964702|969243|971195|971196|971197|976825", + "text": "Early infantile epileptic encephalopathy 2" + }, + { + "baseId": "26535|26536|26539|26541|26871|26872|153502|153506|153511|153512|153513|153514|153515|153517|153519|153526|153529|153533|153541|153544|153549|153550|153555|153561|153566|165870|165873|165878|165884|166445|187437|187438|187442|187444|187450|187574|187576|187587|187589|187596|187599|187601|187603|187604|187606|187610|187612|187613|187614|187615|187617|187619|187620|187628|187629", + "text": "Atypical Rett syndrome" + }, + { + "baseId": "26541|26544|33489|100006|100007|100010|100011|100012|100013|100015|140414|140415|140416|140417|140419|153505|153507|153510|153511|153512|153513|153516|153518|153533|153541|153543|153544|153550|153555|153559|153562|165869|166453|166538|166539|166540|166544|166547|166548|187620|187624|187627|208989|208990|243784|257790|257791|272497|360565|360605|362354|363972|378006|378025|379152|379159|379266|403990|404159|404163|404186|404509|411214|411215|411218|411223|411227|411231|426443|430759|430760|446600|470650|471428|471431|471434|471435|471436|471841|472112|472113|472114|482246|507990|508000|508099|508483|508488|514525|534520|534680|534683|534686|534690|534694|534765|534772|534773|534778|535117|535118|535119|535120|535121|535122|552253|572370|572373|572376|572379|573755|573760|574188|574377|574380|574438|574440|575376|580760|580887|580917|613504|649896|649897|649898|649899|649900|649901|649902|649903|649904|649905|649906|649907|649908|649909|649910|649911|649912|653384|653782|656757|689451|689452|690267|758415|786768|798249|821495|821572|821573|821574|821575|821576|821577|822221|822222|849851|849852|849853|849854|849855|849856|849857|849858|849859|849860|849861|849862|849863|849864|849865|849870|849874|851950|852483|852972|917738|920000|929637|929638|929639|929640|939507|939508|939509|939510|939515|939516|939517|940548|941292|941293|951692|951693|951694|951695|951696|951697|951698|959216|959217|959218|959219|960372|960977|960978", + "text": "Angelman syndrome-like" + }, + { + "baseId": "26542|26848|26849|26850|26850|26851|26852|26853|26854|26854|26855|26856|26857|26858|26858|26860|26862|26862|26863|26865|26867|26868|26868|26872|26873|26874|26875|26880|26882|26883|26883|26884|26885|45151|45154|45155|45156|45157|45158|101082|101084|101086|101087|101091|101096|101099|101100|101101|101102|101102|141890|141891|152982|153026|153029|153031|153032|153033|153035|153036|153038|153039|153041|153042|153044|153052|153054|153055|153056|153058|153060|153060|153061|153063|153066|153069|153072|153076|153077|153079|153081|153082|153083|153084|153085|153086|153087|153088|153089|153091|153092|153093|153094|153095|153096|153097|153098|153101|153103|153104|153105|153106|153107|153108|153109|153111|153114|153116|153117|153118|153119|153120|153124|153125|153129|153130|153132|153133|153134|153136|153137|153138|153138|153139|153140|153141|153143|153144|153145|153146|153152|153153|153154|153157|153160|153161|153164|153165|153166|153168|153170|153173|153174|153175|153179|153183|153185|153189|153191|153198|153199|153201|153203|153204|153205|153213|153214|153216|153217|153218|153221|153223|153224|153229|153230|153231|153232|153234|153235|153236|153239|153240|153242|153243|153244|153245|153247|153249|153250|153251|153252|153253|153255|153256|153257|153258|153259|153260|153261|153262|153263|153264|153265|153266|153267|153268|153269|153270|153272|153274|153275|153276|153278|153281|153282|153283|153284|153285|153286|153287|153288|153290|153291|153292|153293|153294|153295|153296|153297|153298|153299|153300|153301|153303|153304|153305|153308|153309|153310|153311|153312|153313|153314|153315|153317|153319|153320|153321|153322|153324|153326|153327|153328|153329|153330|153331|153332|153333|153335|153336|153337|153340|153340|153341|153346|153347|153349|153351|153352|153353|153354|153355|153356|153359|153361|153363|153364|153365|153367|153368|153371|153372|153373|153374|153375|153377|153379|153380|153381|153384|153385|153386|153387|153390|153394|153395|153396|153398|153402|153403|153404|153405|153406|153407|153408|153409|153410|153414|153416|153419|153420|153421|153422|153423|153424|153426|153427|153428|153429|153431|153432|153434|153435|153436|153437|153438|153440|153442|153446|153448|153450|153451|153452|153453|153454|153455|153457|153458|153459|153460|153461|153462|153463|153465|153466|153467|153468|153469|153470|153472|153473|153474|153476|153477|153478|153480|153481|153484|153485|153486|153488|153492|153495|153523|165841|165842|165844|165845|165846|165848|165849|165853|165854|165858|165859|165861|165862|165863|165864|166119|166468|166469|166486|166488|166490|166515|166521|178396|186595|187416|187417|187418|187419|187420|187421|187422|187423|187424|187425|187426|187427|187428|187429|187430|187431|187432|187433|187434|187435|187454|187455|187456|187457|187458|187460|187461|187462|187463|187465|187466|187467|187469|187471|187472|187474|187475|187476|187477|187479|187480|187481|187482|187483|187484|187485|187487|187488|187489|187490|187491|187492|187493|187495|187495|187496|187497|187498|187499|187500|187501|187502|187504|187505|187506|187507|187508|187509|187510|187511|187512|187513|187514|187515|187516|187518|187519|187520|187521|187522|187523|187524|187525|187526|187527|187528|187529|187530|187531|187532|187533|187534|187535|187537|187538|187539|187540|187541|187542|187543|187544|187545|187546|187547|187549|187551|187556|187558|187559|187560|187561|187562|187563|187565|187566|187567|187568|187569|187571|187633|187634|187635|187636|187637|187638|187639|187640|187641|187642|187643|187644|187645|187646|190082|190083|190084|190085|190086|190087|208946|208951|208954|208958|208962|208963|209313|237855|237856|237857|237858|361240|361299|361300|380318|380320|380321|380322|380323|380324|380325|380327|404014|411178|413218|425235|430712|430713|438474|439573|486748|486781|488032|513391|538288|538289|538290|538506|538611|539190|550653|575515|614500|621687|623641|623642|623643|625827|792162|792163|792164|792165|792166|792167|792168|792169|792170|792646|802045|802046|805126|806171|904250|962867|962868|962919|963191|964579|964580|964582|970101", + "text": "Rett syndrome" + }, + { + "baseId": "26546|26547|26548|26549|26551|26552|26553|26554|26555|26556|132622|209358|338927|338931|338945|338956|338958|338959|338962|348509|348514|348518|352071|352076|352077|352078|352087|352089|352765|352766|352767|352768|352770|352771|352772|352773|612433|612434|682673|792690|902791|902792|902793|902794|902795|902796|902797|902798|902799|902800|902801|902802|902803|902804|902805|902806|902807|902808|902809|902810|902811|902812|902813|902814|902815|902816|903459|903460|919978", + "text": "Spondyloepiphyseal dysplasia tarda" + }, + { + "baseId": "26557|26558|38897|38898|132677|132678|193667|217197|225825|259238|920055", + "text": "X-Linked mental retardation 90" + }, + { + "baseId": "26559|26559|76591|101147|101153|101154|101155|101156|135035|135036|135039|138375|138376|138377|177599|177600|177601|177829|177830|177831|193566|194170|194628|194649|209154|209160|209161|209163|210545|210547|210548|210550|210550|210551|210555|210556|210565|210566|210567|210573|210576|210578|222885|227160|243820|243821|247364|247365|247366|247367|259189|259197|259200|378579|378595|378596|378607|379377|379378|379380|379508|379520|379521|380112|404002|404270|404284|404288|404584|404586|404587|404588|404590|404591|404593|411464|411468|411469|415814|424621|430907|438808|470946|470954|470967|470969|471683|471690|471692|471698|471699|471705|471966|471967|471969|471970|471972|471973|472190|472191|472192|472193|472194|472195|472196|472197|485859|490092|490095|508629|508644|508647|510970|510978|510979|534913|534917|534927|534948|535059|535061|535191|551347|572556|572558|572560|573972|573974|573980|573985|581033|610411|611457|611458|650173|650174|650175|650176|650177|650178|650179|650180|650181|650182|650183|650184|650185|650186|650187|650188|650189|650190|650191|650192|653474|653476|653793|653908|656792|685026|685029|689538|689544|689546|694918|694920|694921|694923|694924|694926|788314|792495|792496|821796|821797|850230|850231|850232|850233|850234|850235|850236|850237|850238|850239|850240|852526|906118|929799|929800|929801|939667|939668|939669|939670|939671|951872|951873|951874|951875|959338|959339|959340|959341|960990|961640", + "text": "FG syndrome 1" + }, + { + "baseId": "26559|26560|135035|210548|210550|210555|210565|210573|424621|551347|611457|611458|920056|920057|920458|961640|964630|971227|971228", + "text": "X-linked mental retardation with marfanoid habitus syndrome" + }, + { + "baseId": "26559|59420|59421|59422|210548|210550|210555|210573|415813|424621|510982|513401|513692|551347|611457|611458|961640|963999|964000", + "text": "Ohdo syndrome, X-linked" + }, + { + "baseId": "26561|26562|26563|26564|26565|26566|26567|26568|33883|33884|33885|167577|167580|167582|167585|237173|471446|508531|508961|513393|538508|649947|653313|694852|694853|695903|706197|706199|706201|778660|800303|800304|805129|821613|849919|849920|964602", + "text": "X-linked chondrodysplasia punctata 1" + }, + { + "baseId": "26569|26570|26573|26575|38892|38894|38895|38896|167912|167913|167914|167916|167917|167918|167921|167924|167929|167932|167935|167937|167938|178395|192361|209041|209042|209046|213668|248723|361732|411363|424699|426464|427111|430786|430788|430790|430790|439692|439693|439694|495820|514314|575414|583138|610525|621037|621040|621041|626295|677470|792453|792454|792455|792456|802050|802235|816533|964613|964614|966026|966027|966048", + "text": "Mental retardation and microcephaly with pontine and cerebellar hypoplasia" + }, + { + "baseId": "26571|26572|26573|26573|26574|26575|38892|38893|430790|610525|677470|798307|920027|920451|964612", + "text": "FG syndrome 4" + }, + { + "baseId": "26575|100274|100275|100277|100278|167915|167920|177311|177550|191214|191797|192004|209045|209047|226991|265958|266612|266797|268085|271800|272071|363745|379413|411370|430787|439692|470809|470810|470816|470820|471881|472152|472153|508575|534818|534868|534869|534970|535166|535167|535169|572491|573865|573868|573870|574730|574732|575413|575414|580907|587633|650051|650052|653422|706228|729593|758495|786830|821792|821793|822224|822286|850060|850061|850062|929729|929730|929731|929732|929733|939597|940561|940562|951799|951800|951801|959301|959302", + "text": "Mental retardation, CASK-related, X-linked" + }, + { + "baseId": "26576|26577|26579|26580|26582|44158|49472|49473|49474|49475|49476|49477|49478|49479|49480|49481|49482|49483|49484|49485|49486|49487|49488|49489|49490|49491|49492|49494|49495|49496|49497|49498|49499|49500|49501|49502|49503|49504|49505|49506|49507|49508|49510|49510|49511|49512|49513|49515|49516|49517|49518|49519|49520|49521|49522|49523|49524|49525|49525|49526|49529|49530|49531|49533|49534|49535|49536|49537|49538|49539|49539|49539|49540|49541|49542|49544|49545|49546|49547|49548|49549|49550|49551|49552|49553|49554|49555|49556|49557|49558|49559|49560|49562|49563|49564|49564|49565|49566|49567|49568|49570|49571|49572|49573|49574|49575|49576|49577|49578|49579|169943|169944|169945|169946|169948|169949|169950|169951|169953|186289|186295|190824|191794|191795|205331|208884|208885|213495|222882|243721|243764|260733|260734|260735|260736|260737|260738|260739|260740|260741|260742|260743|260745|260746|363655|404091|404096|404098|404102|404456|404459|404499|470391|470506|470513|471310|471312|471748|471751|471755|471990|472067|472068|472069|472070|508343|508512|511036|534556|534569|534570|535050|535051|535051|539966|550647|550648|550650|550651|550652|552268|572243|572252|573606|574322|574322|575335|575336|575337|575338|649729|649732|649733|653635|670734|677466|694789|694790|788949|816011|818369|821563|849684|849685|849686|849687|849688|849689|904072|929581|939454|939456|951628|959173|959174", + "text": "Orofaciodigital syndrome I" + }, + { + "baseId": "26582|49539|535051|574322|677466|917752|980854", + "text": "Simpson-Golabi-Behmel syndrome, type 2" + }, + { + "baseId": "26583|26584|44158|49539|49539|214374|214375|214376|535051|574322|677466|964709|966185|971181", + "text": "Joubert syndrome 10" + }, + { + "baseId": "26585|140023|140025|140026|140027|140028|140029|211999|212000|338837|338838|348454|348459|348460|352058|352059|352060|352749|352750|354190|379916|438582|534492|745478|745479|745483|849610|902774|902775|902776|902777|903454|903455|903456|971179", + "text": "Combined oxidative phosphorylation deficiency 6" + }, + { + "baseId": "26586|26588|195627|677465|805046", + "text": "Scapuloperoneal myopathy, X-linked dominant" + }, + { + "baseId": "26587|26588|26598|26599|195626|195627|195628|224581|224582|243720|243755|243756|243757|243758|243759|243761|243762|268750|269311|270721|270731|272418|272737|273324|377803|377815|378900|379010|404090|404128|404494|470504|471295|471304|471740|489247|491519|508330|508339|534531|534536|534539|534542|534544|534552|534554|534634|535037|535039|535041|535042|535044|537037|538956|539109|572226|572242|573554|573556|573564|573572|573578|573584|573588|573593|574293|574307|574309|574312|575334|589441|649717|649718|649719|649720|649721|649722|649723|653737|653775|671033|677465|689346|773773|798172|821560|849667|849668|849669|849670|849671|849672|849673|849674|852468|853028|853029|929577|929578|929579|939445|939446|939447|939448|939449|939450|951620|951621|951622|960974", + "text": "Myopathy with postural muscle atrophy, X-linked" + }, + { + "baseId": "26589|26590|26593|26600|26601|677465", + "text": "Myopathy, reducing body, X-linked, early-onset, severe" + }, + { + "baseId": "26591|26592|26594|26602|677465", + "text": "Myopathy, reducing body, X-linked, childhood-onset" + }, + { + "baseId": "26595|26596|26597", + "text": "Emery-Dreifuss muscular dystrophy 6" + }, + { + "baseId": "26603|26604|26605|512562|919971|963943|971172", + "text": "Mental retardation 63, X-linked" + }, + { + "baseId": "26607|26608|26609|26610|26611|135319|208840|348285|351945|351946|351948|352712|352713|425237|430622|431930|513387|622037|677288|677310|773704|902697|902698|902699|902700|902701|902702|902703|902704|902705|902706|969136", + "text": "Mental retardation 30, X-linked" + }, + { + "baseId": "26612", + "text": "Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia" + }, + { + "baseId": "26613|26614|26615|131981|139946|139947|349025|352945|352946|360664|802239|903204|903205|903206|903207|903208|903483|964707", + "text": "X-linked sideroblastic anemia with ataxia" + }, + { + "baseId": "26616|26617|26618|26619|26620|38889|170165|170169|170171|170172|209144|225828|431006|431007|624064|792490|800679|964629|980975|983698|983699", + "text": "Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance" + }, + { + "baseId": "26621|26622|26623|26624|26625|26626|26627|26629|26630|26631|26632|26633|26634|26635|47534|47535|47536|47537|47538|47539|47540|47541|47542|47543|47544|47545|47546|47547|47548|47549|47550|47551|47552|47553|47554|47555|47556|47557|47558|47559|47560|47561|47562|79307|79308|177673|208981|243783|379257|418962|430742|439831|904964|919993", + "text": "Dyskeratosis congenita, X-linked" + }, + { + "baseId": "26631|26632|447064|447144|514982|514986|515020|515026|515027|515047|515052|556556|556558|556589|556591|556851|556984|556986|626651|626652|626653|626654|626655|626656|706589|822564|822565|822566|822567|822568|822569|822570|822571|822572|822573|822574|921591|921592|921593|921594|921595|921596|921597|929978|929979|929980|929981|929982|941394|941395|952024|952025", + "text": "Hoyeraal-Hreidarsson syndrome" + }, + { + "baseId": "26636|26637|26638|26640|26641|26642|26648|26649|169852|169882|430630|430631|432226|486779|611440|789137|800677|962872", + "text": "Lissencephaly, X-linked" + }, + { + "baseId": "26636|26637|26638|26639|26640|26641|26642|26643|26645|26646|26647|26648|26649|430629|430630|430632", + "text": "Subcortical laminar heterotopia, X-linked" + }, + { + "baseId": "26637|26648|92943|169848|169849|169850|169851|169852|169853|169854|169855|169856|169857|169858|169859|169860|169861|169862|169863|169864|169865|169866|169867|169868|169869|169870|169871|169872|169873|169875|169876|169877|169878|169879|169880|169881|169882|169883|169884|169885|169886|169887|169888|169889|169890|169891|169892|169893|169894|169895|169896|169897|169898|169899|169900|169901|169902|169903|169905|169906|169907|169908|169909|169910|169911|169912|169913|169914|169915|169916|169917|169918|169919|169920|169921|169922|169923|169924|169925|169926|169927|169928|169929|169930|169931|169932|169933|169934|169935|169936|513940|514033", + "text": "Heterotopia" + }, + { + "baseId": "26650|26651|26652|424963|792133|971184", + "text": "Hypospadias 2, X-linked" + }, + { + "baseId": "26653|26654|26655|26656|26657|34295|257849|260333|267625|361099|390505|424183|578351|578595|800656|857093|920035|920036|971211|976724|976725|976726|976727|976728|976729", + "text": "Congenital stationary night blindness, type 2A" + }, + { + "baseId": "26658", + "text": "Congenital stationary night blindness, type 2A, severe" + }, + { + "baseId": "26659|214083|214084|354187|424183|578595", + "text": "X-linked cone-rod dystrophy 3" + }, + { + "baseId": "26660|192398|260333|413831|578595|589379|623878|624016", + "text": "Ocular albinism, type II" + }, + { + "baseId": "26661|717879", + "text": "Premature ovarian failure 2a" + }, + { + "baseId": "26662|26663|26664|76584|76585|76587|94346|190838|615269|788951|804834|815959|903651|904253|920008|961816", + "text": "Syndromic X-linked intellectual disability Snyder type" + }, + { + "baseId": "26665|26666|26667|38888|411202|963955|964584|964585", + "text": "X-Linked Mental Retardation 41" + }, + { + "baseId": "26668|26669|26670", + "text": "Mental retardation 58, X-linked" + }, + { + "baseId": "26671|26672|26673|26674|26675|26676|26677|26678|26679|26680|26681|34312|34313|34314|34315|51276|170179|170180|170181|170182|170183|170184|209177|209178|209179|209181|209182|430913|430916|488315|513694|550658|626303|653909|682858|792500|792501|802238|903657|917761|971230", + "text": "Allan-Herndon-Dudley syndrome" + }, + { + "baseId": "26682|26683|141316|426736|430797|614095|677471|964615|965591|974506", + "text": "TARP syndrome" + }, + { + "baseId": "26684|26685|26686|45837|227418|257745|271618|271618|338753|338757|338764|338766|338769|338771|338779|338780|338787|338791|338798|338805|338806|338809|338823|348369|348371|348376|348377|348379|348381|348383|348387|348389|348395|348406|348407|348410|348412|348417|348424|348432|348434|352022|352023|352025|352026|352028|352029|352030|352032|352033|352036|352037|352038|352039|352725|352726|352727|352728|352729|352730|352731|352732|352733|352734|352735|352736|352741|440026|440027|440028|471245|471246|471249|495793|514119|534457|534461|534464|534496|534498|535009|535013|572186|573530|574191|575283|575323|613424|614103|649661|649662|653434|653683|717625|758260|786695|792119|792120|821550|821551|821552|821553|821554|849586|849587|849588|849589|849590|849591|849592|849593|849594|849595|849596|849597|849598|902733|902734|902735|902736|902737|902738|902739|902740|902741|902742|902743|902744|902745|902746|902747|902748|902749|902750|902751|902752|902753|902754|902755|902756|902757|902758|902759|902760|902761|902762|902763|902764|902765|929555|939418|939419|939420|941286|951584|951585|951586|959159", + "text": "Lymphoproliferative syndrome 2, X-linked" + }, + { + "baseId": "26687|26688|45630|969255", + "text": "Mitochondrial complex 1 deficiency, nuclear type 12" + }, + { + "baseId": "26689|26690|26691|26692|26693|26694|26695|26696|26697|26699|26700|26701|26702|26703|26704|26705|26706|26707|101050|135609|188130|208995|208996|208999|227426|227426|361088|415762|431932|471437|481327|493724|513482|538304|538305|538306|538307|538308|538309|538310|538311|538507|550654|572389|573769|574446|574448|575381|611444|623170|624874|649929|649930|706190|792203|792204|821580|849884|853034|941294|959223|962244|963311|963960", + "text": "Coffin-Lowry syndrome" + }, + { + "baseId": "26698|38886|38887|135609|208995|208996|208997|208999|227426|471437|493724|538304|538507|572389|573769|574446|574448|575381|611444|649929|649930|706190|821580|849884|853034|920445|920446|941294|959223|964592", + "text": "Mental retardation, X-linked 19" + }, + { + "baseId": "26708|26709|26710|34296|188131|513680|626296|975875", + "text": "Linear skin defects with multiple congenital anomalies 1" + }, + { + "baseId": "26711|26712|26713|26714|38884|38885|101264|101265|101266|170138|170139|170140|170141|170142|170143|170145|170146|170147|170148|170149|170150|170151|170152|170153|170154|170155|170156|170157|170158|170159|170160|170161|170162|170163|170164|178084|178384|178385|190501|196000|205197|205198|205800|209110|209112|209113|209114|268274|339427|339429|339440|339445|339448|339455|339463|339469|339474|339475|339483|339484|339490|339492|339497|348970|348972|348976|348980|348982|348985|348989|352349|352355|352369|352375|352378|352917|352918|352920|352921|352922|352923|352924|352925|352926|352927|352928|361246|362235|362430|378478|424492|430841|430843|430973|442434|471644|471914|471917|472166|472167|512703|513833|513834|513835|513836|513837|513838|513839|513840|534882|534886|534918|534921|535047|535183|535184|538514|572540|572552|573925|573930|573933|573938|574189|574807|574809|574811|574813|575280|575433|575434|610425|650123|650124|650125|650126|650127|650128|650129|650130|653294|653465|653537|758566|774126|774127|774130|774132|774133|776891|788302|792475|792476|792477|792478|792479|798817|798818|800678|821511|821512|821513|822231|850188|850189|850190|850191|850192|850193|850194|850195|850196|850197|850198|850199|852523|903115|903116|903117|903118|903119|903120|903121|903122|903123|903124|903125|903126|903127|903128|903129|903130|903131|903132|903133|903134|903135|903136|903137|903138|903139|903140|903141|903142|903143|903144|903145|903146|903147|903148|903149|903150|903151|903152|903480|903654|917774|920043|920044|929782|929783|929784|929785|939647|939648|939649|939650|939651|951855|951856|960988|961639|964623|964921|966358|973112|977306|977307|977308", + "text": "Congenital muscular hypertrophy-cerebral syndrome" + }, + { + "baseId": "26724|26725|26726|26727|26728|26731|26732|26733|26734|226397|260942|534603|553160|609300|611457|614104", + "text": "Simpson-Golabi-Behmel syndrome type 1" + }, + { + "baseId": "26735|26736|26737|26738|26739|26740|26741|26742|26743|34300|76600|76601|135802|208919|208921|208923|208924|208925|208926|215616|237230|243765|260285|271846|377852|377853|377855|377857|377859|377861|378959|378961|378963|378965|378966|378980|378981|378991|378994|379047|379048|379056|379061|379071|379075|379945|379948|379949|379951|379952|404104|404106|404114|404152|404156|404157|404162|404164|404462|404464|404502|404503|404504|404505|430685|430686|430687|430688|442390|446526|470536|470538|471348|471788|471789|471790|472078|472079|472080|472081|507792|507813|507914|508369|508529|508532|508537|508539|534583|534584|534586|534616|534662|535072|535074|552247|572253|572259|572263|572268|573645|573650|574334|574335|575351|575352|575353|580962|621994|623366|649762|649763|649764|649765|649766|649767|649768|649769|649770|654143|654152|656740|678963|684960|684961|684962|684964|689377|689378|689380|689381|689382|689383|690256|694814|695897|695898|706144|729478|758350|773852|773854|773855|773857|786734|792139|792140|799022|806382|806415|815874|821485|821567|822218|849725|849726|849727|849728|849729|849730|920439|929598|929599|939466|939467|939468|939469|939470|951639|951640|959184|959185|959186|959187|960364|960976|962880|963189|964571|964712|964713|971185|971599|972804|976710|976711", + "text": "Creatine transporter deficiency" + }, + { + "baseId": "26745|26746|26747|26748|26749|26750|26751|26752|26753|26754|106499|106500|361727|361728|361729|361730|361731|430892|430893|430894|430895|550657|622497|679254|800957|906117|917775|969276|969287|969288", + "text": "Craniofrontonasal syndrome" + }, + { + "baseId": "26755", + "text": "X-Linked Mental Retardation 88" + }, + { + "baseId": "26760|26761|26762|26763|26764|26765|26766|26767|26768|26769|26770|26772|26773|26773|26774|26774|26775|26778|26781|99039|99041|99043|99044|99045|99047|99048|99049|99052|133940|133941|133944|133945|133946|137383|137388|137389|137390|137391|137392|137393|137394|137395|137396|137398|137399|166106|177185|177500|191160|193323|196185|196186|196189|209197|209198|209199|209204|243824|265761|265767|266207|269258|274176|274280|360681|361255|379543|380125|380126|380127|384429|390648|411489|411489|411493|424620|424679|426493|430936|430938|430940|430942|442458|442459|446776|471025|471046|471048|471050|471050|471057|471058|471737|471741|471746|471747|471753|471997|471998|471999|472000|472006|472007|472009|472207|472208|472209|472210|472211|472212|472213|472214|472215|491357|512762|512762|512763|512767|512768|512770|534939|534944|534945|534947|534958|534959|534966|534974|534975|534977|534982|535076|535078|535080|535086|535201|535202|535203|535204|535205|535206|535207|535208|535209|535210|535211|538322|538323|551801|552266|572595|572596|572599|572601|572603|574016|574018|574019|574020|574022|574914|574915|574915|574989|574990|575281|575454|575455|575456|575457|575458|575459|578600|581078|581081|581084|581197|622128|650231|650232|650233|650234|650235|650236|650237|650238|650239|650240|650241|650242|650243|650244|650245|650246|650247|650248|650249|650250|650251|650252|650253|650254|653545|653630|671182|677476|677477|679816|682845|685048|685049|685050|685051|685052|685053|685054|685497|685498|689563|689565|689566|689567|689568|689569|689570|689571|689572|689573|689574|689576|689577|689578|689579|689581|690281|690282|694937|694938|706320|706321|706322|729708|729709|729711|743478|758663|774222|774224|774226|774230|774231|774232|774233|774237|786907|786908|786910|786911|786912|786913|786917|786920|786923|788323|792503|792504|792505|798406|821515|822238|850296|850297|850298|850299|850300|850301|850302|850303|850304|850305|850306|850307|850308|850309|850310|850311|850312|850313|850314|850315|850316|850317|850318|850319|850320|850321|850322|850323|850324|853046|920068|920069|929824|929825|929826|929827|929828|929829|929830|929831|929832|939689|939690|939691|939692|951892|951893|951894|951895|951896|951897|951898|951899|959352|959353|959354|959355|959356|959357|959358|959359|959360|959361|959362|960391|964633|965874|971231|976690|980111|980112|980113|980114|980115|980116|980117|980118|980119", + "text": "Alpha thalassemia-X-linked intellectual disability syndrome" + }, + { + "baseId": "26763|27404|558396|612017", + "text": "Atypical teratoid/rhabdoid tumor" + }, + { + "baseId": "26763|27403|27404", + "text": "Astrocytoma, anaplastic" + }, + { + "baseId": "26767|48495|48495|59193|181453|202291|214480|223771|263192|263996|514043|613536|613537|653986|676955|676971|794110|800332|904877|921253|965616|983725|983747", + "text": "Intellectual disability, severe" + }, + { + "baseId": "26767|263244|434101|805085|969548", + "text": "Ambiguous genitalia" + }, + { + "baseId": "26770|26771|26776|26781|26782|26783|26784|26785", + "text": "Mental retardation-hypotonic facies syndrome, X-linked" + }, + { + "baseId": "26770|26773|26774|26774|26781|99048|225841|263756|390648|411489|434706|471050|512762|512763|574915|583140|622930|622931|677476|677477|964003|964632|964634|964917|969733|976690", + "text": "X-linked intellectual disability-hypotonic face syndrome" + }, + { + "baseId": "26774|26779|26780|411489|471050|512762|512763|574915|976690", + "text": "Acquired hemoglobin H disease" + }, + { + "baseId": "26774", + "text": "Renier-Gabreels-Jasper syndrome" + }, + { + "baseId": 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+ "text": "Periventricular nodular heterotopia 1" + }, + { + "baseId": "26794|26805|26811|481224|976681", + "text": "Oto-palato-digital syndrome, type I" + }, + { + "baseId": "26794|264749", + "text": "Conductive hearing impairment" + }, + { + "baseId": 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+ "text": "Oto-palato-digital syndrome, type II" + }, + { + "baseId": "26796|26800|26800|99662|188032|194589|208971|208977|210456|210508|210523|210526|210527|210528|222883|243767|243768|377916|404119|404124|404129|404166|404469|404474|404479|404490|404515|404516|404519|404526|404527|404529|411193|411196|426564|430720|430722|430731|442400|470586|470594|470599|470602|470604|470610|470621|470624|471359|471360|471368|471371|471375|471392|471398|471402|471406|471813|471820|471823|471830|471832|471833|471834|471835|472094|472101|472102|481081|508438|508460|510910|510916|534625|534626|534633|534648|534665|534674|534677|534685|534695|534703|534704|534710|534713|534724|534728|534732|534741|534747|534749|534756|534850|535090|535097|535098|535103|535105|535107|539110|572083|572339|572344|572347|572349|572355|572358|572359|572361|572364|573679|573686|573691|573697|573701|573704|573705|573708|573718|573723|573726|573727|574180|574351|574353|574357|574361|574363|574365|574367|574369|575363|575365|575366|575367|575368|575369|575370|575371|578589|649825|649826|649827|649828|649832|649834|649835|649836|649837|649838|649839|649840|649841|649842|649843|649844|649845|649846|649848|649849|649850|649851|649852|649854|649856|649857|649858|649861|649863|649864|649866|649867|649869|649870|649872|649873|649874|649875|649876|649877|653289|653293|653441", + "text": "Frontometaphyseal dysplasia 1" + }, + { + "baseId": 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+ "text": "Melnick-Needles syndrome" + }, + { + "baseId": "26799", + "text": "Heterotopia, periventricular, with frontometaphyseal dysplasia" + }, + { + "baseId": "26801|26807", + "text": "Otopalatodigital spectrum disorder" + }, + { + "baseId": "26809|26815|26816|26817|26818|205799|430731|539110|623788|623789|860809|919985|919986|919987|919988|919989|920441", + "text": "Cardiac valvular dysplasia, X-linked" + }, + { + "baseId": "26810|481079|481083", + "text": "Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked" + }, + { + "baseId": "26811|26813|26814|99651|99653|99654|99656|99657|99660|99666|99668|99670|99673|99674|99675|99679|99680|134505|134506|134507|134508|134509|134511|134512|134513|134514|134515|134516|134517|134518|134519|134520|134521|134522|134523|141089|177439|177710|177714|188021|188023|188031|191008|191359|191890|192831|192900|193109|193272|194223|194569|194660|194679|194703|194889|195294|195629|205515|205799|208964|208967|208968|208973|208974|208978|210460|210461|210462|210463|210464|210471|210472|210473|210476|210477|210478|210483|210484|210485|210486|210493|210496|210497|210504|210505|210506|210507|210509|210512|210514|210516|210518|210519|210521|210522|210525|210531|210532|210533|210540|232151|237396|243772|243773|243775|243776|243777|257784|257785|259150|259152|259154|259155|259158|259161|259163|259166|266603|267750|267764|270944|271084|271829|272989|273519|273844|273846|377906|377915|377927|377939|377943|377962|377974|377982|379072|379082|379088|379111|379167|379168|379192|379193|379195|379208|379209|379211|379978|379984|379985|379988|404121|404127|404131|404140|404146|404150|404470|404475|404476|404477|404481|426433|430717|430718|430721|430724|430725|430726|433576|442401|446563|446570|470587|470615|470626|471381|471385|471391|471395|471401|471404|471811|471812|471815|471817|471818|471819|471827|472093|472095|472096|472097|472098|472099|472100|485812|489115|490318|494079|507880|507902|508014|508046|508061|508070|508073|508441|508450|508451|508458|508471|508574|508583|508591|508595|510901|510904|510905|510907|510909|510912|510913|510917|510920|510921|510927|512622|534630|534635|534653|534671|534684|534700|534717|534726|534729|534731|534734|534744|535089|535092|535094|535096|538297|552472|552473|572356|573714|574355|574359|575364|580857|580869|580889|580890|581025|582011|586385|609038|613239|626293|649823|649824|649829|649830|649831|649833|649847|649853|649855|649859|649860|649862|649865|649868|649871|653291|653779|653780|684973|684974|685486|689411|689412|689413|689414|689416|689418|689419|689420|689421|689422|689425|689426|689430|689433|689434|690260|690261|690262|694831|694834|694840|729507|758385|760994|773897|773901|773903|773910|776965|786748|786749|786751|798220|821491|821492|849794|849795|849796|849797|849798|849799|849800|849801|849802|849803|849804|849805|849806|849807|849808|849809|849810|849811|849812|849813|849814|849815|849816|849817|849818|849819|849820|849821|849822|849823|849824|851948|852969|852970|853031|919986|929616|929617|929618|929619|929620|929621|929622|929623|929624|929625|929626|929627|939487|939488|939489|939490|939491|939492|939493|939494|939495|939496|939497|939498|939499|939500|939501|940546|941288|941289|951664|951665|951666|951667|951668|951669|951670|951671|951672|951673|951674|951675|951676|951677|951678|951679|951680|951681|951682|951683|959200|959201|959202|959203|959204|960369", + "text": "Frontometaphyseal dysplasia" + }, + { + "baseId": "26813|471830|539110|578589|805127|966023|966024", + "text": "FG syndrome 2" + }, + { + "baseId": "26814|539110", + "text": "Terminal osseous dysplasia" + }, + { + "baseId": "26819", + "text": "Menkes disease, mild" + }, + { + "baseId": "26820|26821|26822|26826|26831|26832|26834|98292|98293|98296|177054|196147|209207|209208|209218|209220|209222|209229|209241|209250|209253|209261|209264|209277|209291|232158|232163|245190|245194|245197|245199|245200|245201|245202|245203|268459|268461|270367|271496|360693|361659|378665|378675|379450|379450|379452|379459|379462|379470|379546|379550|380130|411498|422518|422519|446780|446782|470384|471061|471063|471064|471066|471070|471073|471757|471758|471765|471766|471769|471771|472011|472012|472013|472015|472016|472017|472019|472217|472218|472219|472220|472221|472222|472223|508243|508247|508254|508701|512772|534393|534979|534983|534986|534987|534988|534989|534991|534992|534993|534995|535001|535091|535093|535095|535100|535101|535102|535104|535106|535212|572609|574032|574035|574038|574043|574994|575082|575083|575460|575461|575462|580995|581008|581157|650261|650262|650263|650264|650265|650266|650267|650268|650269|650270|650271|650272|650273|650274|650275|650276|650277|650278|650279|650280|650281|650282|650283|650284|650285|653477|653720|653795|656804|656805|694940|694943|694944|694945|694946|694947|694948|694949|694950|694951|694952|706324|706325|729712|743480|743481|758669|758670|758671|774241|774242|774243|774247|778708|786927|786928|786929|821518|821519|821520|821521|850326|850327|850328|850329|850330|850331|850332|850333|850334|850335|850336|850337|850338|850339|853048|917785|920071|920072|920461|920462|929833|929834|929835|929836|929837|929838|929839|939694|939695|940569|941316|951903|951904|951905|951906|951907|951908|959366|959367|959368|959369|959370|959371|959372|959373|959374|959375|964907", + "text": "Cutis laxa, X-linked" + }, + { + "baseId": "26821|26823|26825|26827|26829|26830|26831|26832|26832|26834|98292|98293|98293|98295|98296|143211|177054|196147|196147|198649|209207|209207|209208|209209|209210|209211|209213|209214|209216|209217|209218|209218|209219|209220|209220|209221|209224|209225|209226|209227|209228|209229|209229|209230|209231|209232|209233|209234|209235|209236|209239|209240|209241|209241|209242|209243|209244|209245|209246|209247|209248|209249|209250|209250|209251|209252|209253|209254|209255|209256|209257|209258|209259|209260|209261|209261|209262|209263|209264|209264|209265|209266|209267|209268|209269|209270|209271|209272|209273|209274|209275|209276|209277|209278|209279|209281|209283|209284|209285|209286|209287|209288|209289|209290|209291|209292|209293|209294|209295|209296|209297|209298|209299|232158|232163|232163|245190|245194|245197|245199|245199|245200|245201|245201|245202|245203|268459|268461|270367|271496|360693|361659|378665|378675|379450|379450|379452|379459|379462|379470|379546|379550|380130|411496|411498|422518|422519|431024|446780|446782|470384|471061|471063|471064|471066|471070|471073|471757|471758|471765|471766|471769|471771|472011|472012|472013|472015|472016|472017|472019|472217|472218|472219|472220|472221|472222|472223|508243|508247|508254|508701|508731|512772|513695|534393|534979|534983|534986|534987|534988|534989|534991|534992|534993|534995|535001|535091|535093|535095|535100|535101|535102|535104|535106|535212|572609|574032|574035|574038|574043|574994|575082|575083|575460|575461|575462|580995|581006|581008|581157|614097|623171|650261|650262|650263|650264|650265|650266|650267|650268|650269|650270|650271|650272|650273|650274|650275|650276|650277|650278|650279|650280|650281|650282|650283|650284|650285|653477|653720|653795|656804|656805|679706|694940|694940|694943|694944|694944|694945|694946|694947|694948|694948|694949|694950|694951|694952|706324|706324|706325|706325|729712|729712|743480|743481|758669|758670|758671|774241|774241|774242|774243|774247|774252|778708|786927|786928|786928|786929|792506|792507|792508|792509|821518|821519|821520|821521|850326|850327|850328|850329|850330|850330|850331|850332|850333|850334|850335|850336|850337|850338|850339|853048|858594|929833|929834|929835|929836|929837|929838|929839|939694|939695|940569|941316|951903|951904|951905|951906|951907|951908|959366|959367|959368|959369|959370|959371|959372|959373|959374|959375|964636|980120|980121", + "text": "Menkes kinky-hair syndrome" + }, + { + "baseId": "26828", + "text": "Menkes disease, copper-replacement responsive" + }, + { + "baseId": "26832|26833|26834|26834|98292|98293|98296|177054|196147|209207|209208|209218|209220|209229|209241|209250|209253|209261|209264|209277|209291|232158|232163|245190|245194|245197|245199|245200|245201|245202|245203|268459|268461|270367|271496|360693|361659|378665|378675|379450|379452|379459|379462|379470|379546|379550|380130|411498|422518|422519|446780|446782|470384|471061|471063|471064|471066|471070|471073|471757|471758|471765|471766|471769|471771|472011|472012|472013|472015|472016|472017|472019|472217|472218|472219|472220|472222|472223|508243|508247|508254|508701|512772|534393|534979|534983|534986|534987|534988|534989|534991|534992|534993|534995|535001|535091|535093|535095|535100|535101|535102|535104|535106|535212|540473|572609|574032|574035|574038|574043|574994|575082|575083|575460|575461|575462|580995|581008|581157|650261|650262|650263|650264|650265|650266|650267|650268|650269|650270|650271|650272|650273|650274|650275|650276|650277|650278|650279|650280|650281|650282|650283|650284|650285|653477|653720|653795|656804|656805|694940|694943|694944|694945|694946|694947|694948|694949|694950|694951|694952|706324|706325|729712|743480|743481|758669|758670|758671|774241|774242|774243|774247|778708|786927|786928|786929|821518|821519|821520|821521|850326|850327|850328|850329|850330|850331|850332|850333|850334|850335|850336|850337|850338|850339|853048|917785|929833|929834|929835|929836|929837|929838|929839|939694|939695|940569|941316|951903|951904|951905|951906|951907|951908|959366|959367|959368|959369|959370|959371|959372|959373|959374|959375", + "text": "Distal spinal muscular atrophy, X-linked 3" + }, + { + "baseId": "26835|26836|26837|26838|26841|26846|26847|33490|49402|49403|49404|49405|49406|49407|49408|204263|204265|204266|204267|204268|204269|204270|204271|204272|204273|204274|204275|204276|339380|339382|339385|339394|339402|339406|339408|339414|339418|348898|348900|348904|348925|348926|348929|348933|348936|348941|348943|348954|348969|352291|352292|352294|352296|352297|352300|352301|352304|352305|352318|352320|352321|352323|352324|352338|352339|352902|352903|352905|352906|352907|352909|352911|352912|352913|352915|384508|432424|481351|482259|552262|578029|620931|792471|818376|850166|903073|903074|903075|903076|903077|903078|903079|903080|903081|903082|903083|903084|903085|903086|903087|903088|903089|903091|903092|903093|903094|903095|903096|903097|903098|903099|903101|903102|903103|903104|903105|903106|903107|903108|903109|903110|903479|918534|921032|921244|921246|921247|921249|962131|963389|963390|963391|964620|971212|971213|980403", + "text": "Dent disease type 1" + }, + { + "baseId": "26835|26842|26843|26844|962188", + "text": "Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis" + }, + { + "baseId": "26839|26840|26845", + "text": "Nephrolithiasis, X-linked recessive" + }, + { + "baseId": "26839|920038", + "text": "X-linked recessive nephrolithiasis with renal failure" + }, + { + "baseId": "26841|204277|576346", + "text": "Hypophosphatemic rickets, X-linked recessive" + }, + { + "baseId": "26848|26859|26861|26883", + "text": "Rett syndrome, zappella variant" + }, + { + "baseId": "26848|26850|26854|26856|26858|26862|26862|26864|26868|26868|26869|26880|26882|26883|26883|45152|45153|45157|45158|101102|101102|141890|153060|153074|153076|153101|153111|153115|153127|153138|153138|153170|153173|153190|153200|153206|153335|153338|153340|153388|153432|153432|153444|153481|165851|165866|166488|166490|166510|166511|186595|187470|187478|187495|187564|187570|187572|187573|187647|362434|404014|534722|614500", + "text": "Mental retardation, X-linked, syndromic 13" + }, + { + "baseId": "26848|26850|26850|26851|26853|26854|26854|26858|26858|26862|26862|26863|26864|26867|26868|26868|26870|26872|26881|26883|26883|26885|45151|45152|45153|45154|45158|99461|101083|101084|101085|101086|101087|101088|101089|101091|101092|101093|101094|101095|101096|101097|101098|101101|101102|101102|101104|101105|141889|141890|141891|141892|141893|141894|141896|141897|141898|141899|141900|153036|153041|153046|153053|153057|153072|153073|153076|153098|153101|153104|153115|153125|153128|153135|153136|153138|153138|153144|153162|153165|153169|153170|153172|153173|153178|153181|153182|153189|153190|153195|153197|153207|153215|153217|153228|153233|153237|153241|153284|153285|153294|153306|153310|153311|153317|153333|153335|153336|153340|153341|153358|153359|153360|153366|153370|153376|153383|153385|153389|153391|153393|153396|153411|153412|153413|153418|153420|153432|153432|153434|153438|153441|153443|153446|153448|153459|153467|153468|153470|153481|153482|153490|153496|165851|165864|165865|166485|166486|166488|166488|166490|166490|166511|166521|166524|170093|186595|187495|187555|187559|187561|187566|187569|187570|190328|208948|208952|208955|237856|264950|265144|377892|377900|379123|404117|404466|404467|404468|404512|404514|413850|422439|426424|426425|470373|471357|472092|486780|507865|508424|508560|513391|534343|534503|534610|534613|534618|534620|534623|534661|534715|534722|534723|535084|535085|535087|538290|538506|572069|572070|572078|572331|572333|572335|572336|572338|573437|573439|573673|573675|574161|574162|574349|575277|575362|614500|649810|649811|649812|649813|649814|649815|649816|649817|649818|649819|649820|649821|649822|653287|653351|653699|653730|653732|689401|689404|689406|689408|717721|729506|773887|776964|800255|821486|821489|821490|822219|822220|849778|849779|849780|849781|849782|849783|849784|849785|849786|849787|849788|849789|849790|849791|849792|849793|851944|851946|929611|929612|929613|929614|929615|939480|939481|939482|939483|939484|939485|939486|940545|951658|951659|951660|951661|951662|951663|959198|959199|960368|964581", + "text": "Severe neonatal-onset encephalopathy with microcephaly" + }, + { + "baseId": "26850|26850|26853|26854|26854|26858|26858|26859|26862|26862|26868|26883|45156|137081|152984|152986|152987|152988|152989|152990|152991|152996|152999|153007|153008|153010|153013|153022|153068|153101|153138|153138|153190|153325|153340|153348|153370|153432|153481|165843|165847|165855|166488|166490|186595|187569|422439|614500|919982|919983", + "text": "Autism, susceptibility to, X-linked 3" + }, + { + "baseId": "26850|26854|26858|26862|26868|26877|26883|101102|153138|153340|153432|166488|166490|186595|187495|243965|243966|613957|614500|614620|963190", + "text": "Syndromic X-linked intellectual disability Lubs type" + }, + { + "baseId": "26854|153171|170092", + "text": "Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome" + }, + { + "baseId": "26862|244018|263218|263234|263346|263378|512868|513946|513964|513983|514017|514111|514327|550126|626018|626019|800980|801184|905852|905853|905854|984026|984027|984028|984030|984031|984032|984033|984034|984035", + "text": "Behavioral abnormality" + }, + { + "baseId": "26886|26887|26888|26889|26890|26891|26895|26897|26898|26899|26900|38879|52304|52309|52311|52312|52320|52323|52332|52334|52339|52340|52346|52347|52350|52354|52357|52358|52362|52365|52373|52375|52376|52384|52388|52390|52391|52392|52395|52401|52403|52411|52412|52414|52418|52422|52426|52427|52428|52430|52435|52437|52439|52441|52444|52448|52452|52455|52458|52463|52464|52466|52472|52473|52474|52477|52479|52483|52487|52489|52493|52494|52495|52498|52499|52505|52508|52513|52514|52515|174811|174815|174817|174819|174820|175221|175225|175226|175227|175230|175231|175232|175236|175238|176897|178187|178237|178242|191866|193401|194096|230245|230249|230250|231384|231419|231423|231424|231425|236904|266350|269755|272763|315230|322075|322076|328159|328161|328165|328171|328181|329420|329437|374343|415310|425944|486060|489321|497000|497399|497818|497875|497895|508743|508747|511946|538427|546726|552405|612931|654690|654694|654696|654699|656096|656097|666262|713192|724746|724747|738301|738302|738304|738305|752982|752984|752988|752990|752991|760047|760097|768771|768774|768779|768784|768785|768787|768788|768793|768795|768798|768803|768805|768806|775791|784187|784192|784195|784200|784205|784208|784211|784216|784222|787785|787833|791180|796659|822055|822056|839027|839030|839032|839039|839040|839046|839048|839049|839051|839055|839062|839067|839073|839074|839077|839083|839084|839085|852400|852407|868809|868817|868834|918366|956687|956689|956697|979148|979149|979150|979151|979152|979153|979154|979155|979156|979157|979158|979159|979160|979161|979162|979163|979164|979165|979166|979167|979168|979169|979170|979171|979172|979173|979174|979175|979176|979177|979178|979179|979180|979181|979182|979183|979184|979185|979186|979187|979188|979189|979190|979191|979192|979193|979194|979195|979196|979197|979198|979199|979200|979201|979202|979203|979204|979205|979206|979207|979208|979209|979210", + "text": "Usher syndrome, type 1B" + }, + { + "baseId": "26887|26889|26891|26892|26894|26895|26898|26899|26903|38881|52303|52304|52304|52305|52305|52306|52308|52309|52311|52312|52313|52315|52319|52320|52321|52323|52326|52328|52330|52331|52332|52333|52334|52336|52338|52339|52339|52340|52343|52345|52346|52346|52347|52348|52349|52350|52351|52352|52353|52354|52355|52356|52357|52358|52359|52360|52361|52362|52363|52364|52365|52367|52369|52370|52371|52373|52373|52376|52377|52378|52378|52378|52383|52385|52385|52388|52388|52390|52392|52393|52394|52394|52395|52396|52397|52399|52400|52401|52403|52404|52407|52407|52411|52411|52412|52414|52414|52416|52417|52418|52421|52422|52424|52425|52426|52427|52428|52430|52431|52432|52434|52435|52437|52438|52439|52440|52441|52442|52444|52446|52448|52449|52452|52453|52456|52457|52458|52458|52460|52461|52462|52463|52464|52465|52466|52467|52468|52469|52472|52473|52474|52475|52475|52477|52479|52483|52486|52487|52488|52492|52493|52494|52495|52496|52497|52497|52498|52499|52501|52504|52505|52508|52509|52513|52514|52515|53126|53126|129781|174810|174811|174812|174813|174814|174818|174819|174820|175221|175222|175225|175226|175227|175233|175236|175238|175238|175379|175519|175522|176872|176872|176880|176881|176882|176890|176894|176897|178183|178185|178187|178187|178237|178238|178239|178240|178241|178242|178245|178248|178280|178282|178299|178300|178301|178301|188830|188830|188830|193260|194566|194658|230238|230244|230245|230245|230249|230250|231364|231364|231366|231368|231369|231384|231384|231385|231387|231417|231417|231419|231420|231420|231421|231423|231424|231425|231426|231427|237612|237613|237614|237614|237614|238052|268060|269755|272763|275242|315220|315224|315230|315231|315242|315243|315244|315250|315250|315252|315256|315257|315258|315259|322038|322039|322043|322044|322052|322054|322055|322071|322072|322075|322076|322080|322082|322083|322084|322085|322086|322091|322094|322095|328157|328159|328161|328164|328165|328171|328172|328177|328181|328182|328183|328184|329415|329417|329419|329420|329422|329423|329424|329425|329427|329429|329431|329432|329437|329438|329439|329446|329447|329453|358080|358081|359920|360049|360049|361501|361502|374343|384410|389240|389241|389242|389242|389243|389244|408476|425944|431762|431763|431763|431766|431767|440019|444891|482004|488902|491741|493338|497208|497209|497399|497625|497811|497812|497820|497822|497860|508737|508743|514401|546382|546385|546387|546394|546395|546399|546403|546404|546408|546413|546417|546423|546425|546426|546428|546431|546436|546438|546440|546446|546457|546461|546463|546466|546469|546494|546496|546508|546520|546526|546527|546530|546599|546607|546607|546611|546612|546614|546625|546628|546637|546642|546645|546659|546664|546673|546674|546687|546688|546688|546691|546693|546694|546696|546696|546698|546700|546702|546705|546708|546709|546710|546716|546718|546720|546721|546723|546725|546726|546727|546731|546733|546734|546742|546742|546744|546746|546747|546754|546755|546756|546758|546761|546763|546766|546767|546780|546784|546790|546793|546803|546811|546814|546815|546824|546826|546828|546836|546838|546845|546856|546866|546867|546870|546873|547003|547006|547013|547015|547021|547031|547033|547034|547035|547038|547041|547042|547045|547046|547052|547055|547058|547060|547072|547079|547079|552405|553265|553266|553267|553268|615816|615841|615842|654690|713192|738305|760047|768788|768806|784189|784220|791171|791172|791173|791174|791175|791176|791177|791178|791179|791180|791181|839045|839075|857681|857682|868803|868804|868805|868806|868807|868808|868809|868810|868811|868812|868813|868814|868815|868816|868817|868818|868819|868820|868821|868822|868823|868824|868825|868826|868827|868828|868829|868830|868831|868832|868833|868834|868835|868836|868837|868838|868839|868840|868841|868842|872137|872138|872139|872140|872141|872142|872143|872144", + "text": "Deafness, autosomal recessive 2" + }, + { + "baseId": "26891|26896|26902|38879|38880|52304|52304|52305|52311|52312|52320|52321|52323|52331|52334|52339|52340|52346|52347|52349|52350|52353|52355|52356|52356|52357|52358|52359|52362|52363|52364|52365|52369|52370|52371|52373|52378|52384|52385|52388|52390|52392|52394|52395|52396|52397|52401|52403|52411|52412|52414|52414|52416|52417|52418|52421|52422|52424|52425|52426|52427|52428|52430|52435|52438|52439|52441|52442|52444|52446|52448|52449|52453|52457|52458|52460|52463|52466|52467|52472|52473|52474|52475|52477|52479|52486|52487|52492|52493|52494|52497|52498|52501|52504|52508|52509|52513|52514|53126|174812|174814|174818|174820|175221|175227|175233|175235|175238|175238|175379|175519|176872|176881|176894|178187|178187|178237|178238|178239|178240|178242|178245|178258|178300|178301|188830|188830|230238|230245|231364|231366|231368|231384|231419|231420|231423|231424|231425|237614|268060|269755|272763|275242|315220|315224|315230|315231|315242|315243|315244|315250|315252|315256|315257|315258|315259|322038|322039|322043|322044|322052|322054|322055|322071|322072|322075|322076|322080|322082|322083|322084|322085|322086|322091|322094|322095|328157|328159|328161|328164|328165|328171|328172|328177|328181|328182|328183|328184|329415|329417|329419|329420|329422|329423|329424|329425|329427|329429|329431|329432|329437|329438|329439|329446|329447|329453|360049|361501|361502|425944|488902|497208|497209|497399|497625|497811|497820|497822|497860|508737|508743|513605|538427|546440|546696|546742|547079|552405|625875|713192|738305|760047|768788|768806|784189|784220|788859|839045|839075|861637|868803|868804|868805|868806|868807|868808|868809|868810|868811|868812|868813|868814|868815|868816|868817|868818|868819|868820|868821|868822|868823|868824|868825|868826|868827|868828|868829|868830|868831|868832|868833|868834|868835|868836|868837|868838|868839|868840|868841|868842|872137|872138|872139|872140|872141|872142|872143|872144|918372|918503|919392|919393|920303|964370|970945", + "text": "Deafness, autosomal dominant 11" + }, + { + "baseId": "26904|26905|26906|26907|26908|26909|26910|26911|26912|26913|26914|33906|33908|33909|33910|98353|98354|98355|177701|177702|186942|186943|186944|186945|193377|255375|265241|271735|272580|274348|275085|275312|275338|323422|323425|323426|323436|323438|323439|323442|333122|333127|333130|333132|333134|333136|333145|333146|339949|339956|339957|339962|339973|339976|339980|339984|341363|341364|341366|341367|358325|358326|358327|358328|358329|358330|358331|358332|358333|358334|358335|358336|358337|358338|358339|360304|373697|373702|373707|373710|374352|374355|374358|374364|374757|374758|389205|422048|431016|465199|465319|488353|489448|492386|493494|504988|505409|547593|547595|547598|547599|547601|547606|547607|547611|547615|547616|547617|547619|547631|547861|547864|547869|547873|547874|547876|548265|548268|548270|548275|548278|567290|567293|585874|589134|623379|643564|643565|652760|653068|656310|656311|688494|693747|703366|754708|754709|754711|770367|770368|785039|787965|788173|791486|791487|791488|791489|801725|801726|801727|801728|820739|820758|842736|842737|842738|842739|851631|852784|874200|874201|874202|874203|874204|874205|874206|874207|874208|874209|874210|876579|876580|876581|876582|917211|917537|927430|927431|927432|937082|940331|949030|949031|957518|957519|957520|957521|957522|972223|972224|972225|972226|972227|977272|979681|979682|979683|979684|979685|979686|979687|979688|979689", + "text": "Tyrosinemia type I" + }, + { + "baseId": "26907", + "text": "Fumarylacetoacetase pseudodeficiency" + }, + { + "baseId": "26916|456732|970844", + "text": "Trypsinogen deficiency" + }, + { + "baseId": "26925|26926|26927|26928", + "text": "Ghosal hematodiaphyseal syndrome" + }, + { + "baseId": "26928|425733|490070|614310|614524", + "text": "Ghosal hematodiaphyseal dysplasia" + }, + { + "baseId": "26929|26930|26931|26932|26933|26934|26935|26936|26937|26938|26939|26940|26941|26942|26943|26944|79070|79077|79078|79079|79080|79082|79083|79086|79087|79088|79095|186680|186681|186682|186683|186684|186685|186686|186687|186688|186689|186690|186691|186692|186693|186694|251429|251430|251431|251433|251434|264191|269616|271336|275318|293049|293050|293057|293060|293064|293066|293075|293076|293078|293080|293084|293094|294451|294453|294454|294455|294467|297921|297924|297925|297937|297939|297947|297998|298000|298009|298010|298031|298032|298035|298036|357337|357338|357339|357340|357341|357342|357343|357344|357345|357346|357347|357348|357349|357350|357351|357352|357353|367624|421485|443610|481715|543100|543101|543102|543104|543105|543107|543113|543115|543376|543378|543381|543385|543391|543394|543395|543396|543398|543399|543401|543403|543404|543406|543407|543408|543410|543411|543412|543416|543420|543444|543447|543452|543453|543455|543458|543462|543464|543467|543471|543482|543484|543486|543487|543489|543497|543499|615394|615395|615396|615397|615398|615399|615400|615401|615402|615403|615404|615405|615406|615407|615408|615409|615410|615411|615724|620160|698456|709277|720882|734564|748857|764415|775064|801505|861592|890577|890578|890579|890580|890581|890582|890583|890584|890585|890586|890587|890588|890589|890590|890591|890592|890593|890594|890595|890596|890597|890598|890599|890600|890601|890602|891781|891782|891783|891784|891785|961269", + "text": "Hereditary factor XI deficiency disease" + }, + { + "baseId": "26930|26931|26940|186682|264191|271336|293060|293064|298010|367624|443610|615400|698456|720882|734563|734564|748856|748857|764412|764415|764416|774895|775064|890580|891781|978069|978070|978071|978072|978073|978074|978075|978076|978077|978078|978079|978080|978081|978082|978083|978084", + "text": "Plasma factor XI deficiency" + }, + { + "baseId": "26931", + "text": "Factor XI" + }, + { + "baseId": "26946|106001|106002|106003|106004|106006|250889|250890|288437|288439|288442|288448|288453|288454|288456|288458|288465|288466|288468|288472|288477|288478|288482|288487|288489|288492|288494|288495|288496|288499|288501|288505|288507|288513|288514|288517|288519|288524|288529|288532|288533|289179|289181|289190|289191|289193|289195|289197|289198|289199|289219|289233|289234|289237|289239|289248|289249|289250|289256|289260|289261|289262|289264|289267|289269|289279|289280|289281|289282|292182|292183|292185|292186|292187|292188|292192|292193|292194|292200|292205|292206|292210|292212|292213|292214|292215|292216|292218|292221|292227|292234|292236|292239|292245|292246|292250|292258|292311|292312|292314|292316|292326|292328|292333|292335|292336|292337|292340|292342|292343|292344|292347|292349|292350|292351|292358|292362|292363|292364|292366|292368|292369|292370|292383|292385|292387|292388|292389|292399|292402|513528|620100|708516|708518|733735|887771|887772|887773|887774|887775|887776|887777|887778|887779|887780|887781|887782|887783|887784|887785|887786|887787|887788|887789|887790|887791|887792|887793|887794|887795|887796|887797|887798|887799|887800|887801|887802|887803|887804|887805|887806|887807|887808|887809|887810|887811|887812|887813|887814|887815|887816|887817|887818|887819|891557", + "text": "Orotic aciduria" + }, + { + "baseId": "26947|26947|26948|26948|26949|26949|26950|26951|26953|26954|26955|26956|26958|26960|26961|26962|26963|26964|26966|75541|75543|75545|75551|75552|75555|75556|98541|98544|98546|98547|106588|177221|177778|190226|190227|192200|192201|192202|195857|224714|224715|224716|224717|224718|224719|228213|228214|259780|265213|265242|293215|453630|487045|488258|488285|493667|543006|543008|543013|543015|543021|543023|543037|543039|543164|543167|543174|543176|543177|543179|543180|543182|543197|543201|543203|543205|543212|543213|543216|543218|543221|543232|543234|543237|543239|543240|543244|543246|543251|543252|543253|543255|543259|543263|543265|543267|543269|543270|543272|543275|543276|543278|543280|543282|543283|543284|543285|543286|543292|543293|543294|543295|543296|543297|543303|543305|543306|543309|543310|543312|543314|543316|543318|543319|543320|543321|543323|543325|543328|543329|543331|543332|543335|543340|543343|543344|543345|543347|543349|543352|543364|543531|543538|543540|543542|543545|543546|543549|543552|543606|543609|543610|543618|543620|543625|543629|543671|543677|543695|543696|543698|543699|543700|543709|543713|543720|543722|612085|621165|790426|816406|921443|970781", + "text": "Hurler syndrome" + }, + { + "baseId": "26947|26948|26949|26950|26956|26958|26959|26960|26961|26962|26964|26966|75541|98531|98532|98533|98534|98535|98537|98539|98543|98544|98545|98546|98547|98548|98549|98550|98552|98553|98554|98556|98557|98558|177221|177778|190226|190227|192200|192201|192202|193396|195857|224714|224715|224716|224717|224718|224719|224720|251307|251309|259780|265213|265229|265308|267722|270479|291836|291845|293202|293212|293213|293214|293215|296312|296502|296521|296527|296538|296558|300068|300111|300112|300121|359596|414951|421459|421460|438266|453187|453618|453630|487045|488258|488285|493667|519674|519934|519935|519946|520291|520527|520568|536655|543021|543037|543039|543176|543182|543201|543203|543213|543234|543265|543282|543283|543284|543305|543306|543319|543325|543328|543364|543540|549563|559551|559553|559821|563355|621165|625880|625881|625882|625915|631842|631843|631844|631845|632532|632533|632534|632535|651143|651265|709085|709086|709087|720677|720678|720679|720680|721122|721123|721124|734339|734340|734343|734344|734345|734346|734347|734776|748582|748585|748587|748588|748589|748591|749112|759258|759380|764212|764219|764221|764222|764224|764226|764227|764650|764651|774866|779003|779171|781828|781829|781832|781833|781835|781836|781838|787190|828629|828630|828631|828632|828633|828634|828636|828637|828638|828639|828640|828641|828642|828643|828644|829539|829540|829541|891863|891864|891865|891866|891867|891868|891869|891870|891871|891872|891873|891874|895975|895976|895977|895978|895979|896010|906010|916917|916918|916919|916920|916934|923375|923376|932106|932107|932476|932477|939953|940770|940771|943733|943734|943735|944148|953610|953611|953612|953613|953614|953615|953616|953617|953618|953619|953868|960526|961843|963262|975779|978003|978004|978005|978006|978007|978008|978009|978010|978011|978108|978109", + "text": "Mucopolysaccharidosis type 1" + }, + { + "baseId": "26947|26948|26948|26949|26957|224715|623136", + "text": "Mucopolysaccharidosis, MPS-I-S" + }, + { + "baseId": "26947|26947|26948|26948|26949|26958|26959|26961|26963|26964|26966|543265|828632|918912|971847|971848|971849|971850|971851", + "text": "Mucopolysaccharidosis, MPS-I-H/S" + }, + { + "baseId": "26962", + "text": "IDUA pseudodeficiency" + }, + { + "baseId": "26967|26968|26968|26969|26969|26970|26970|26971|26971|26971|26972|26973|26973|26974|48325|48326|94405|94405|102137|103452|103456|103461|103463|103464|103466|103470|103470|103473|103478|103487|103491|103491|103493|103512|103512|103523|103524|103524|103525|103526|135084|135085|135085|135086|142016|142016|142017|142017|190748|190748|200230|231816|231816|231819|231819|231821|244709|244711|244712|244712|254395|254396|254397|315956|315957|315960|315963|323148|323150|323152|323152|323159|323188|323199|323220|329210|329211|329231|329232|329248|329248|329262|329265|330383|330386|330389|330396|330408|330408|330430|330432|444905|462167|481424|526895|527212|537210|565034|566309|571185|571186|571187|624452|640599|640600|640601|640602|640602|640603|640604|640605|652649|775896|779494|779494|784267|799664|800361|839260|839261|839262|839263|839264|839265|839266|839267|839267|839268|839269|869216|869217|869218|869219|869220|869221|869222|869223|869224|869225|869226|869227|935901|935902|935903|935904|935905|940240|940241|941020|947775|956742|956743|960021|960772", + "text": "Mevalonic aciduria" + }, + { + "baseId": "26968|26968|26968|26969|26969|26970|26970|26971|26971|26971|26972|26972|26973|26973|26974|48324|48325|48326|94405|94405|94406|102137|103450|103451|103452|103452|103453|103454|103455|103456|103456|103457|103458|103459|103460|103461|103461|103462|103463|103463|103464|103464|103465|103466|103466|103468|103469|103470|103470|103471|103472|103473|103473|103474|103475|103476|103477|103478|103478|103479|103481|103483|103484|103485|103486|103487|103487|103488|103489|103490|103491|103491|103492|103493|103493|103494|103495|103496|103497|103498|103499|103500|103501|103502|103503|103504|103505|103507|103508|103509|103510|103511|103512|103512|103513|103514|103515|103516|103517|103518|103519|103520|103521|103522|103523|103523|103524|103524|103525|103526|103526|103527|103528|103529|103530|103531|103532|103533|103785|135084|135085|135085|135086|142016|142016|142017|142017|190748|190748|200230|231816|231816|231819|231819|231821|244709|244711|244712|244712|254395|254396|254397|315956|315957|315960|315963|323148|323150|323152|323152|323159|323188|323199|323220|329210|329211|329231|329232|329248|329248|329262|329265|330383|330386|330389|330396|330408|330408|330430|330432|444905|462167|526895|527212|537210|565034|566309|571185|571186|571187|624452|640599|640600|640601|640602|640602|640603|640604|640605|652649|775896|779494|779494|784267|791192|799664|800362|839260|839261|839262|839263|839264|839265|839266|839267|839267|839268|839269|869216|869217|869218|869219|869220|869221|869222|869223|869224|869225|869226|869227|935901|935902|935903|935904|935905|940240|940241|941020|947775|956742|956743|960021|960772|961963", + "text": "Hyperimmunoglobulin D with periodic fever" + }, + { + "baseId": "26968|103471|323176", + "text": "MVK-Related Disorders" + }, + { + "baseId": "26976|26977|26978|26979|26980|102511", + "text": "MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB" + }, + { + "baseId": "26976|76679|102455|102492|102501|102508|102511|102514|186721|207423|308960|357521|369081|487098|699678|710620|710621|765879|765888|782671|832583|916978|978358|978359|978360|978361|978362|978363|978364|978365", + "text": "Maple syrup urine disease type 1B" + }, + { + "baseId": "26981|26984|26989|26990|26992|99919|623123|623124", + "text": "Maple syrup urine disease type 2" + }, + { + "baseId": "26982|26983|26991", + "text": "Maple syrup urine disease, thiamine-responsive, type II" + }, + { + "baseId": "26985|26986|26987|26988", + "text": "Intermediate maple syrup urine disease type 2" + }, + { + "baseId": "26993|26994|26995|26996|26997|40041|98510|176929|192195|280088|280089|280093|280413|280414|280416|280428|280432|281738|281739|281744|281746|281765|281891|281892|281916|281919|353100|364921|365136|365141|365143|425351|442782|442783|498531|498538|511253|511254|513508|515792|540999|541002|541004|541006|541008|541015|541016|541113|541117|541118|541120|541121|541128|541130|541131|541133|541134|541136|541137|541139|541151|541157|557253|619994|627622|627623|627624|627625|627626|627627|690556|690557|690558|696612|746339|746340|758889|761784|761785|761788|761789|761790|761791|780630|789953|818946|823753|823754|850767|850768|864138|864139|864140|864141|864142|864143|864144|864145|864146|920145|921938|921939|921940|930416|930417|941860|952351|952352|952353|960426|971669|971670|971671|971672|971673|977520|977521|977522|977523|977524|977525|977526", + "text": "Deficiency of hydroxymethylglutaryl-CoA lyase" + }, + { + "baseId": "26998|26999|27000|27001|27002|39892|39894|101491|101492|101494|101495|101497|101498|176995|191571|196017|212656|221803|240439|240440|243908|253247|271349|273772|274111|306203|306204|306205|306206|310311|310312|310318|310319|315566|315567|315603|315610|315755|315757|315761|315763|315765|315782|315789|389212|396782|488264|491021|492066|523842|584405|584568|587816|620312|620808|626183|678068|678069|687328|900614|900615|900616|900617|900618|900619|900620|900621|900622|900623|900624|900625|900626|900627|900628|900629|900630|900631|906254|962720", + "text": "Infantile nephronophthisis" + }, + { + "baseId": "27003|27004|27005|27007|27008|27009|27010|27011|48683|48684|48685|140795|140797|140798|140799|140800|140801|140803|140804|140805|140806|200131|200137|200139|200140|200141|200144|252560|301484|301488|301489|301493|301494|301500|301501|301503|301504|304711|304712|304731|304734|304735|304737|304738|304739|304740|304742|304743|304760|309367|309368|309370|309371|309499|309501|309502|309504|309505|357555|357556|357557|357558|357559|357560|357561|368842|370664|370677|406953|406954|406957|501526|501757|544102|544104|544107|544111|544350|544354|544357|544364|544367|544426|544459|544467|544472|544473|544479|544483|563929|566277|635447|635448|635449|655765|710696|735864|735867|744168|750333|750334|750335|759528|765983|765985|775273|779204|782723|782724|782725|782727|787395|789369|819779|832781|832782|832783|832784|897233|897234|897235|897236|897237|897238|897239|897240|897241|897242|897243|897244|897245|897246|897247|897248|897249|897250|897251|897252|897253|897254|897255|919068|945310|954979|954980|960619|971974|971975|971976|971977|971978|971979|971980|978382|978383|978384|978385", + "text": "Maple syrup urine disease, type 3" + }, + { + "baseId": "27005|27010|357558|620248", + "text": "DLD-Related Disorders" + }, + { + "baseId": "27012|27013|27014|27015|27016|27017|27018|27019|27020|27021|27023|27024|27025|27026|27027|27028|27029|27030|70674|70675|70676|70677|70678|70679|70680|70681|70682|70683|70684|70685|70686|70687|70688|70689|70690|70691|70692|70693|70694|70695|70696|70697|70698|70699|70700|70701|70702|70703|70704|70705|70706|70708|70709|70710|70711|70712|70713|70714|70715|70716|70717|70718|70719|70720|70721|70722|70723|70724|70725|70726|70727|70728|70729|70730|70731|70732|70733|70734|70735|70736|70737|70738|70739|70740|70741|70742|70743|70744|70745|70746|70747|70748|70749|70811|70812|70864|70865|70866|70867|70868|70869|70870|70871|70872|70873|70874|70875|70876|70877|70878|70879|70880|71054|203911|205141|213593|227333|237115|237242|237282|237289|237338|248726|251226|251227|253562|253563|253564|253565|253566|253567|253568|253569|264336|291109|291112|291113|291119|291120|292063|292065|292079|292083|292086|292091|295431|295432|295433|295434|295436|295437|295623|295625|295626|295627|295637|308613|308625|308627|308631|308632|308636|308637|308643|308647|313080|313082|313083|313089|313113|313116|313117|313123|313124|313138|313139|313145|313148|313154|313157|313165|313201|313206|313207|313209|318977|318985|318987|318989|318990|318993|318994|318997|319014|319022|319028|319031|319033|319603|319606|319609|319613|319614|319629|319635|319639|319640|319650|353859|357818|363717|367323|389138|424282|431014|446441|452507|452508|452519|452827|452830|458654|458662|458739|459252|459253|459262|459265|459266|459270|459272|459558|459559|459560|459563|459569|459572|459575|459579|459581|459583|459586|459589|459593|459596|459615|459628|459630|459631|459634|459639|459643|459645|459648|459652|459665|459667|460104|460106|460110|460113|460119|460127|460132|460137|460143|460148|460159|460160|466021|466733|466745|466751|466752|466792|467006|467012|467014|487389|500588|508839|511841|519408|519410|519416|519417|519634|519636|519640|519642|523837|524110|524412|524659|524660|524662|524665|524671|524872|524876|524893|524897|524905|524998|525001|525004|525012|525016|525018|525177|525179|525180|525184|530781|530790|542982|542984|542985|542986|542990|542994|542998|543004|543123|543125|543127|543129|543135|543140|543143|543145|543154|543158|543161|543162|543236|543238|543241|543245|543247|543248|543249|543250|543254|543256|543258|543260|543261|543266|544918|544920|544925|544928|544930|544932|544938|544940|544946|544950|544951|544952|544956|544957|544958|544960|545197|545199|545201|545203|545205|545218|545223|545232|545237|545242|545245|545247|545249|545251|545253|545262|545263|545300|545301|545309|545312|545313|545332|545334|545336|545338|545341|545344|545352|545356|545357|545550|545551|545553|545557|545566|545569|545578|545582|545584|545586|545595|545600|545603|545605|545607|545609|545610|545615|545616|545617|545621|545624|545628|559040|559042|563293|563298|563300|563301|564104|564105|564106|565954|565958|565963|568324|569138|569143|569144|569146|569148|569149|569170|570556|570557|577125|583127|612266|612286|612287|622396|623135|623150|623177|631545|631546|631547|631548|631549|631550|631551|631552|631553|631554|631555|638360|638361|638362|638363|638364|638365|638366|638367|638368|638369|638370|638371|638372|638373|638374|638375|638376|638377|638378|638379|638380|638381|638382|638383|638384|638385|645007|645008|649578|651104|651118|651208|651850|651863|651864|651867|651957|652080|652219|652224|688665|691445|692681|692682|692683|692684|692685|692686|695444|695445|695446|695447|698170|698171|698172|701028|701029|701030|701031|701032|701033|701034|701035|711998|723597|723598|723599|723600|723601|723602|723603|737162|737163|737167|737169|737170|737171|748371|751743|751744|751746|751747|759761|759849|764011|767446|767447|767450|767451|767454|767456|767457|767459|767460|774856|775008|775421|775423|777849|779408|779430|781741|783425|783427|783429|783430|783432|783433|783434|788837|790405|790406|790407|790915|793035|794343|794344|794345|794346|794348|794349|794351|794352|798620|801679|801680|819408|819409|820147|820148|820149|820150|820151|820152|820153|820154|820155|820156|820157|820158|820159|820160|820161|820162|820163|820886|822030|828316|828317|828318|828319|828320|828321|828322|828323|828324|828325|836218|836219|836220|836221|836222|836223|836224|836225|836226|836227|836228|836229|836230|836231|836232|836233|836234|844361|844362|844363|844364|844365|844366|844367|851347|851744|852191|852205|852207|852524|852672|861570|861571|889379|889380|889381|889382|889383|889384|889385|889386|889387|889388|889389|889390|891689|902269|902270|902271|902272|902273|902274|902275|902276|902277|902278|902279|902280|902281|902282|902283|902284|902285|902286|902287|902288|902289|903423|903424|903425|919237|923261|923262|925622|925623|925624|925625|925626|925627|925628|927963|927964|932012|932013|934801|934802|934803|934804|934805|934806|934807|934808|934809|937628|940152|940153|940940|943618|943619|943620|946656|946657|946658|946659|946660|946661|946662|946663|946664|946665|949591|949592|949593|949594|953529|953530|953531|953532|953533|953534|953535|953536|953537|953538|953539|955866|955867|955868|955869|955870|955871|955872|955873|955874|955875|955876|955877|955878|955879|955880|955881|955882|955883|957887|960517|960518|960705|966793|972045|972046|972047|972048|972049|972050|972051|972052|972053|972054|972055|972056|972057|972058|972059|972060|972061|972062|972063|972064|972065|972066|972067|972068|973020|977975|977976|977977|977978|978593|978594|978595|978596", + "text": "Non-ketotic hyperglycinemia" + }, + { + "baseId": "27024|48278|79399|79402|79404|79418|203022|384510", + "text": "Generalized epilepsy" + }, + { + "baseId": "27031|27032|27033|27034|27035|34179|34180|34181|34182|34183|34184|34185|34186|34187|34188|34189|34190|34191|38457|187131|190401|190402|190807|191790|191898|254969|254970|254971|254972|254977|254979|254981|254982|254983|254984|254988|254990|320672|320675|320676|320687|320689|320690|329492|329493|329495|329496|329499|336071|336078|336081|336089|337998|338004|338005|490554|513344|528204|539053|566499|568106|568112|568121|572811|572813|620483|620484|620485|642497|642498|642499|642500|642501|642502|642503|652350|652469|714151|714152|725683|744805|754070|779629|779633|791412|816002|820628|841549|841550|851557|852745|871920|871921|871922|871923|871924|871925|871926|871927|871928|871929|871930|872368|872369|872370|872371|920335|927096|927097|936635|936636|948584|948585", + "text": "Glycogen storage disease, type VI" + }, + { + "baseId": "27036|27037|27038|27039|27040|27041|27042|27043|27044|27045|27046|27047|27048|27049|33913|33914|33915|38395|102139|141108|142894|153573|186977|186978|186979|209409|211808|211809|211810|211811|211812|211814|211815|211816|256175|269769|273336|328576|328577|328582|328584|328586|328600|328603|338515|338519|338522|338528|338531|338536|338537|338540|338552|338554|338555|338557|344606|344615|344616|344617|344618|344623|344624|344631|344633|344639|344640|344642|345996|346002|346006|346007|346011|346014|346016|346024|346025|346026|346028|346033|346048|358438|358439|358440|358441|358442|358443|358444|358445|361015|375019|375032|466812|468100|493558|506058|506367|506832|512869|531157|531275|548181|548184|548189|548191|548192|548194|548195|548196|548198|548206|548207|548217|548508|548511|548512|548519|548520|548522|548530|548532|548942|548947|548959|551628|569062|645912|645913|645914|645915|652781|653460|727194|740781|740782|740783|740784|740785|740786|755870|755871|785581|785582|785583|788123|791749|791750|791751|791752|801733|801734|801735|821044|845352|845353|845354|845355|845356|857623|877605|877606|877607|877608|877609|877610|877611|877612|877613|877614|877615|877616|877617|877618|877619|877620|877621|877622|877623|877624|877625|877626|877627|877628|877629|877630|877631|877632|877633|877634|877635|880523|880524|917244|917245|920503|928268|928269|928270|928271|937937|949923|958114|961880|961881|961976|970243|979903|979904|979905", + "text": "Glycogen storage disease due to glucose-6-phosphatase deficiency type IA" + }, + { + "baseId": "27050|27051|27052|27053|27054|27055|27056|27057|27058|27059|27060|27061|27062|27063|27064|47470|47471|47472|47473|47474|47475|47478|47480|47481|47482|47483|47484|47485|47486|47487|47488|98667|98668|98671|98672|99136|99137|136392|177910|190739|191344|191756|192617|192721|193405|193406|195589|195869|195900|200029|200031|200032|200033|200036|200037|200251|200252|200253|200256|214549|214550|214551|214552|214553|214554|214883|214884|214885|214886|214887|214888|214889|214890|214891|214892|214893|214894|214895|214896|214897|214898|214899|214900|227253|237131|237213|248623|254770|254771|254772|259751|264713|273639|273955|273956|288910|288917|288918|288924|288925|288927|288928|289618|289629|289642|289650|289652|289653|289654|289666|289680|292619|292620|292622|292628|292633|292829|292830|292844|292846|292848|292858|292859|292862|292863|292874|318785|318786|318787|318791|327138|327147|327150|327151|333268|333269|333271|333273|333279|334968|334971|334974|334976|334979|334988|334991|366954|367197|367207|367238|372603|373287|373548|373566|373574|375502|421950|433774|438258|445107|451865|452213|452332|462561|463324|463328|463329|463412|463439|463440|487044|500537|504707|505110|513529|513939|519108|519110|542751|542752|542756|542758|542764|542767|542768|542770|542774|542775|542780|542783|542786|542790|542907|542909|542912|542915|542921|542923|542924|542926|542927|542936|542938|542946|542947|542949|542950|542952|542954|542955|542957|542959|542961|542963|542966|542968|542969|542972|542974|542975|542976|542978|542979|542980|542988|542989|546738|546739|546741|546743|546745|546749|546757|546760|546762|546764|546891|546899|546902|546904|546909|546910|546911|546915|547050|547054|547059|547063|547070|547077|547078|547080|547267|547269|547278|547281|547282|547287|547291|547294|561214|562445|562450|562456|562477|567141|567142|568230|568235|572174|609866|610695|610896|610898|612263|612298|620108|620109|620462|620463|621827|622327|623157|623158|625839|625840|625841|625842|625843|625844|625845|625846|625847|625848|625849|625850|625851|625852|625853|625854|625855|625856|625857|625858|625859|625860|625861|625862|625863|625864|625865|625866|630959|630960|630961|630962|630963|630964|641512|641513|641514|641515|641516|641517|641518|641519|651026|652264|652268|652382|652505|652752|655521|655523|655524|656193|691310|691311|691312|691313|691314|693311|693312|693313|695175|697854|702563|708603|713802|713803|720201|738908|738909|738910|744765|744774|748029|748031|748032|753655|753656|753657|753658|760276|763652|769373|769374|769375|769376|769378|769379|774914|781561|784501|784503|784504|784508|784511|788100|790335|790336|790337|791289|801719|818396|818404|819328|820531|820532|820533|820535|820536|820537|820538|827567|827568|827569|827570|827571|827572|840485|840486|840487|840488|840489|840490|840491|840492|852517|852705|858568|870612|870613|870614|870615|870616|870617|870618|870619|870620|870621|870622|870623|870624|870625|870626|870627|872297|872298|888044|888045|888046|888047|888048|888049|888050|888051|891575|917434|918800|923060|923061|931776|931777|931778|931779|931780|936323|936324|940276|941046|943341|943342|943343|953341|953342|953343|953344|953345|957013|959681|960068|960069|966790|970190|977797|979341|979342|979343|979344|979345|979346|979347|979348|979349|979350|979351|979352|979353|979354|979355|979356", + "text": "Propionic acidemia" + }, + { + "baseId": "27065|27066|27067|27068|27069|40255", + "text": "Glutaric acidemia IIC" + }, + { + "baseId": "27070|27071|285755|285760|285761|285766|285768|285779|285785|285791|285792|285799|285800|285813|285815|285821|286464|286465|286466|286468|286501|286505|286506|286507|286515|286527|286538|286539|286540|288764|288766|288773|288774|288778|288785|288789|288790|288791|288794|289173|289183|289185|289186|289187|289188|289194|289203|289210|353569|719800|884536|884537|884538|884539|884540|884541|884542|884543|884544|884545|884546|884547|884548|884549|884550|884551|884552|884553|884554|884555|884556|884557|884558|884559|884560|884561|884562|887344|887345|887346", + "text": "Fructosuria, essential" + }, + { + "baseId": "27072|27073|27074|27075|27076|227267", + "text": "Prekallikrein deficiency" + }, + { + "baseId": "27077|27078|27079|27080|27081|138049|138050|138051|138052|138053|138054|138057|138058|138059|138063|138066|138067|215265|226494|239035|239036|239038|239039|250824|250831|250832|250836|250837|250838|250841|250845|250847|287808|287811|287815|287822|287823|287834|287837|287839|287841|287845|288498|288502|288503|288504|288506|288508|288509|288510|288512|288515|291416|291421|291422|291427|291434|291439|291440|291441|291450|291451|291452|291456|291526|291533|291534|291535|291537|291541|291542|291549|291552|291562|291563|291571|291578|291579|291587|291588|291596|291624|393135|393150|393152|393163|393334|393516|428109|428112|433549|451859|451899|452037|452041|452051|452068|508784|518661|559237|559239|559249|561059|612082|630672|654309|683524|689723|790306|790311|801068|801069|816308|887568|887569|887570|887571|887572|887573|887574|887575|887576|887577|887578|887579|887580|887581|887582|887583|887584|887585|887586|887587|891550|891551|891552|917960|917961|917962|917963|917964|917965|917966|917967|917968|917969|917970|917971|917972|917973|917974|917975|917976|917977|917978|917980|917981|917982|917983|917984|917986|917987|917988|917989|922967", + "text": "Fanconi anemia, complementation group D2" + }, + { + "baseId": "27082|27083|27084|27085|27086|27086|27087|27088|27089|27090|27091|132985|132989|132991|132994|132995|132997|132998|132999|133000|133001|133004|133005|133007|138035|138036|138037|138040|138041|138043|138044|138046|140978|140979|140980|140983|140987|140988|140989|140990|180329|180331|180332|180333|180336|180337|180338|180339|180343|180344|180345|180347|180354|180355|180357|180358|180359|180364|186792|186793|186794|207730|207731|212673|212675|212683|212684|212685|212687|212689|215407|221834|221835|221838|221839|221843|221844|221846|221848|221849|221855|221856|221863|231721|231724|231728|231738|237216|240627|240629|240631|240634|240635|240638|240639|253595|253598|259928|308920|308922|308923|308924|308928|308939|308940|308944|308946|308952|313630|313634|313635|313636|313639|313644|313648|313652|313654|313658|313666|313678|313684|313685|319424|319426|319430|319431|319436|319437|319989|319990|319991|320001|320005|320027|320038|320045|320046|320050|320054|320058|357819|357820|357821|357822|357823|357824|357825|357826|357827|357828|357829|357830|357831|357832|357833|357834|357835|357836|357837|357838|357839|371006|371027|371034|371048|371373|371380|373207|396906|397128|397131|397149|397317|404784|407732|407735|407738|407740|407749|407750|407751|407753|407759|407763|407767|407768|407772|444541|444542|444544|459317|459325|459712|459720|460225|460242|474954|474961|475126|502987|503210|513303|524696|524702|524941|536781|544964|544971|544976|544977|544981|544982|544984|544987|544988|545271|545274|545275|545277|545278|545282|545284|545286|545288|545290|545360|545363|545369|545371|545374|545378|545380|545632|545638|545639|545643|563337|575792|575793|575794|575795|575796|575797|575798|620339|621309|638432|638436|638437|638439|638442|692713|695454|801681|801682|801683|801684|801685|809444|809450|809455|809466|809479|809485|809490|809494|809506|836331|836337|836341|902527|902528|902529|902530|902531|902532|902533|902534|902535|902536|902537|902538|902539|902540|902541|902542|902543|902544|902545|902546|902547|902548|902549|902550|902551|902552|902553|902554|902555|902556|902557|902558|903445|918116|918117|918118|918119|918123|918126|918128|918133|918134|918135|918136|918137|918138|921274|946693|972069|972070|972071|972072|972073|972074|972075|972076|978614", + "text": "Fanconi anemia, complementation group C" + }, + { + "baseId": "27092|27093|27094|27095|27096|27097|27098|27099|27100|27101|27102|27103|27104|27119|40038|254820|319057|319065|319068|319069|319070|319078|319081|327504|327505|327512|327513|327515|327522|327523|327524|327532|333719|333751|333753|333757|333762|335397|335426|335433|335438|335441|611370|615536|615537|615538|615539|615540|615541|615542|615543|615544|615545|615546|615860|620466|725397|725398|730904|870784|870785|870786|870787|870788|870789|870790|870791|870792|870793|870794|872318", + "text": "Factor X deficiency" + }, + { + "baseId": "27105", + "text": "Factor x deficiency, autosomal dominant" + }, + { + "baseId": "27106", + "text": "Factor VII Padua" + }, + { + "baseId": "27107|27108|27109|27110|27111|27112|27113|27114|27115|27116|27117|27119|27120|27121|27122|27123|27124|27125|27126|27127|27128|27129|254815|254816|254818|260038|319040|319051|319052|319057|319059|319064|319065|319066|319068|327482|327483|327484|327490|327496|327499|327501|327502|327504|327505|327509|327510|327511|327512|333696|333697|333714|333715|333716|333719|333723|333737|333743|333748|333749|333751|333753|333756|335367|335370|335376|335380|335381|335390|335397|335403|335410|335412|335426|335428|361209|390088|408803|408804|504461|615520|615521|615522|615523|615524|615525|615527|615528|615530|615531|615533|615535|615739|615740|615741|615742|615743|615744|620857|725395|725396|738970|796911|870757|870758|870759|870760|870761|870762|870763|870764|870765|870766|870767|870768|870769|870770|870771|870772|870773|870774|870775|870776|870777|870778|870779|870780|870781|870782|870783|872317", + "text": "Factor VII deficiency" + }, + { + "baseId": "27118|27119", + "text": "Myocardial infarction, decreased susceptibility to" + }, + { + "baseId": "27130|27131|961561|961562", + "text": "Deficiency of bisphosphoglycerate mutase" + }, + { + "baseId": "27132|27133|27134|27135|27136|27137|27139|27140|27141|40087|40088|40089|45032|432331|441918|612312|612313|788900|962790|962791", + "text": "Apparent mineralocorticoid excess" + }, + { + "baseId": "27138|27139", + "text": "Apparent mineralocorticoid excess, mild" + }, + { + "baseId": "27142|27143|27144|27145|27146|27147|27148|27149|27150|27151|227286|623284|623285", + "text": "Complement component 7 deficiency" + }, + { + "baseId": "27144", + "text": "C7 and C6 deficiency, combined subtotal" + }, + { + "baseId": "27153", + "text": "C6 deficiency, subtotal" + }, + { + "baseId": "27154|27155|27156|32077|38877|44259|205146|496803|788778", + "text": "Complement component 6 deficiency" + }, + { + "baseId": "27157|27158|27159|27163|551236|614273", + "text": "Afibrinogenemia" + }, + { + "baseId": "27160|27161|27162|27164|27165|76488|76922|246959|291907|291908|291909|291914|291916|291922|291924|293307|293312|293318|293319|293323|293324|293325|293326|293327|296608|296616|296620|296626|296631|296632|296633|296634|296635|296637|296641|296642|296643|296644|296645|296649|296651|296654|296656|353663|406381|432292|513048|590272|614273|620139|623277|623278|730254|818228|818229|818230|818231|818232|889862|889863|889864|889865|889866|889867|889868|889869|889870|889871|889872|889873|891728|891729", + "text": "Atypical hemolytic-uremic syndrome 3" + }, + { + "baseId": "27166", + "text": "C2 deficiency, type I" + }, + { + "baseId": "27167|27168", + "text": "C2 deficiency, type II" + }, + { + "baseId": "27169|27170|31114|31116|299764|299775|299776|299781|299782|299786|299793|302370|302371|302372|302382|302387|302388|302389|306761|306762|306777|306778|307086|307087|307088|307092|307093|307097|307101|353749|614299|895757|895758|895759|895760|895761|895762|895763|895764|895765|895766|895767|895768|895769|895770|895771|895772|895773|895774|895775|895776|895777|895778|895779|895780|895781|896217|896218|980457|980458", + "text": "Age-related macular degeneration 14" + }, + { + "baseId": "27169|31114|31115|31116|59668|227292|227293|299764|299768|299775|299776|299781|299782|299786|299793|299798|299801|299802|299810|299817|299818|302370|302371|302372|302382|302387|302388|302389|302401|302405|302413|306761|306762|306777|306778|306818|306825|307086|307087|307088|307092|307093|307097|307101|307117|353749|614299|895757|895758|895759|895760|895761|895762|895763|895764|895765|895766|895767|895768|895769|895770|895771|895772|895773|895774|895775|895776|895777|895778|895779|895780|895781|896217|896218|903543|961950|980457", + "text": "Complement component 2 deficiency" + }, + { + "baseId": "27171|27172|27173|27174|27175|27176|27177|132031|132032|200052|237052|291025|291026|291034|291036|291044|291046|291048|291050|291062|291984|291990|291991|291992|295346|295347|295349|295572|295573|295577|295578|295582|295584|367614|452802|452806|519377|536282|559548|561640|578421|623134|631499|631500|631501|631502|631503|631504|631505|818386|828255|828256|889328|889329|889330|889331|889332|889333|889334|889335|889336|889337|889338|889339|889340|891684|920487|920488|923242|931994|931995|939946|953514|960515", + "text": "Carnitine acylcarnitine translocase deficiency" + }, + { + "baseId": "27178|27181", + "text": "Bombay phenotype" + }, + { + "baseId": "27179|27180|223368", + "text": "Para-Bombay phenotype" + }, + { + "baseId": "27181|27986", + "text": "BOMBAY PHENOTYPE, DIGENIC" + }, + { + "baseId": "27189|27190|27191|27192|27193|27194|27195|27196|27197|27198|27199|27200|27201|27203|27207|27208|27209|27210|27211|27213|27214|27215|27216|27217|27218|27222|33491|76512|76514|76516|76517|76518|76519|186703|187078|187079|187080|187081|187082|187083|187084|187085|190758|193439|227294|227295|252234|260863|424373|439126|442474|442475|442476|576926|587370|612435|612438|612439|788798|789173|789174|789175|789176|789177|789178|789179|789180|789181|789182|789183|789184|789185|789186|789187|789188|789189|789190|789191|789192|789193|789194|789195|789196|789197|789198|789199|789200|789201|789202|789203|789204|789205|789206|789207|789208|789209|789210|789211|789212|789213|789214|789215|789216|789217|789218|789219|789220|789221|789222|789223|789224|789225|789226|789227|789228|789229|789230|789231|789232|789233|789234|789235|790612|790613", + "text": "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency" + }, + { + "baseId": "27190", + "text": "Adenoma, cortisol-producing" + }, + { + "baseId": "27190", + "text": "Carcinoma, adrenocortical, androgen-secreting" + }, + { + "baseId": "27193|27201|27202", + "text": "21-HYDROXYLASE POLYMORPHISM" + }, + { + "baseId": "27194", + "text": "Adrenal hyperplasia" + }, + { + "baseId": "27219|27220", + "text": "Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency" + }, + { + "baseId": "27223|27224|27226|27227|27228|27229|27230|27231|27232|27233|45033|276147|276149|276150|276152|276153|276154|276411|276412|276419|276741|276743|276745|276748|276750|276751|276754|276756|276801|276802|276803|276808|496564|718138|718139|731629|731631|745607|758839|761115|780288|862092|862093|862094|862095|862096|864964|977422|977423|977424|977425", + "text": "3 beta-Hydroxysteroid dehydrogenase deficiency" + }, + { + "baseId": "27234", + "text": "Major affective disorder 7, susceptibility to" + }, + { + "baseId": "27235|27236|27237|45557|45558|45559|54741|54743|54745|54746|54747|54748|54749|54750|54751|54753|54754|54755|54758|54759|54760|54761|54762|54764|54765|54765|54766|54767|54768|54769|54769|54770|54771|54772|54774|54775|54777|54778|54779|54781|54782|54783|54785|54786|54787|54788|54789|141603|141604|141605|175011|175015|175016|175019|175290|175291|175292|175293|175294|188808|189863|189864|189865|189866|189866|189867|189868|189869|189870|198286|198287|198291|198292|198293|198294|198295|198296|198297|198298|198299|198300|198304|198305|198306|224402|224403|229915|240842|240843|240844|240846|240847|258656|258661|311013|311015|311016|311017|311021|311029|311040|316341|316341|316350|316353|316354|316357|316360|316364|316373|316374|322416|322417|322421|322430|322431|322432|322439|322444|322459|323004|323006|323010|323012|323028|323040|323054|323064|323068|323069|323070|323085|323087|370882|371415|371431|371448|371797|397404|397405|397413|397414|397418|397420|397575|397578|397580|397799|397801|397805|397818|397930|397931|397940|397953|397958|404791|404791|407909|407910|407911|460136|460140|460141|460147|460154|460254|460257|460262|460263|460274|460509|460512|460526|460532|460941|460948|460949|460957|460960|460963|460965|480705|481133|497171|503433|503731|510220|514271|525378|525381|525384|525385|525386|525398|525458|525460|525462|525465|525481|525483|525487|525495|525497|525505|525573|525574|525576|525587|525588|525786|525787|550787|563937|563948|563949|564735|564742|564744|566481|566483|566488|566502|614990|639145|639146|639147|639148|639149|639150|639151|639152|639153|639154|639155|639156|639157|639158|639159|652009|652042|652260|656014|687672|692888|752262|752263|752264|767974|767976|796456|820240|820241|837278|837279|837280|837281|837282|837283|837284|837285|837286|837287|837288|837289|837290|837291|837292|837293|837294|837295|837296|837297|837298|837299|837300|837301|837302|837303|837304|837305|837306|851385|866256|866257|866258|866259|866260|866261|866262|866263|866264|866265|866266|866267|866268|866269|866270|866271|866272|866273|866274|868501|925921|925922|925923|925924|925925|925926|925927|925928|935171|935172|935173|935174|935175|935176|940965|940966|940967|947064|947065|947066|947067|947068|947069|947070|947071|947072|956203|956204|956205|956206|956207|956208|956209|959944|959945", + "text": "Dilated cardiomyopathy 1W" + }, + { + "baseId": "27236|27237|54765|54769|189866|198305|214108|316341|404791|481133|550787", + "text": "Familial hypertrophic cardiomyopathy 15" + }, + { + "baseId": "27238|213984|413946|459741|460188|525347|687609|692818|692819|701274|712294|919263|925778|946848|946849", + "text": "Cataract 30" + }, + { + "baseId": "27239|27240|27241|34233|70506|75338|136147|136149|136150|136151|136152|136153|136154|136155|136156|136158|136159|136160|136161|191375|207711|207713|207714|207717|207719|307964|307970|307975|307981|307987|307989|307990|307992|307993|307997|312309|312311|312323|312326|312327|312337|312339|312342|317994|318001|318007|318020|318033|318035|318559|318563|318566|318574|318586|318591|318598|370356|370860|425841|428998|429004|622893|767370|802170|901760|901761|901762|901763|901764|901765|901766|901767|901768|901769|901770|901771|901772|901773|901774|901775|901776|901777|901778|901779|901780|901781|901782|901783|901784|901785|901786|901787|901788|901789|901790|901791|901792|901793|901794|903375|903376|903377", + "text": "Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1" + }, + { + "baseId": "27240|27241", + "text": "Cerebellar ataxia and mental retardation with quadrupedal locomotion 1" + }, + { + "baseId": "27243|27244|27245|27246|27247|27248|27249|27250|27251|27252|27253|27254|27255|27256|27257|27259|27260|27261|354183|964529", + "text": "Neurohypophyseal diabetes insipidus" + }, + { + "baseId": "27258", + "text": "Diabetes insipidus, neurohypophyseal, autosomal recessive" + }, + { + "baseId": "27262", + "text": "Microvascular complications of diabetes 1" + }, + { + "baseId": "27263|29485", + "text": "Atherosclerosis, susceptibility to" + }, + { + "baseId": "27264|27265|27266|27267|27268|27269|53387|53388|53389|53390|53392|53393|53394|53395|53396|53397|53398|176751|176754|176755|178235|178236|178267|231305|231334|231335|231336|231337|231338|231395|231400|231401|264108|287114|287115|287121|287124|287125|287136|287137|287846|287851|287852|287867|290346|290347|290365|290382|290383|290389|290395|353575|511434|511435|542147|542315|542317|542319|620091|623271|626131|655472|697633|733544|733545|759186|763384|781427|790289|885396|885397|885398|885399|885400|885401|885402|885403|887388|887389|963356|977739|977740|977741|977742|977743|977744|977745|977746", + "text": "Renal tubular acidosis with progressive nerve deafness" + }, + { + "baseId": 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+ "text": "Hereditary diffuse gastric cancer" + }, + { + "baseId": "27273|27289|231973", + "text": "Breast cancer, lobular" + }, + { + "baseId": "27287|166264", + "text": "Gastric cancer, familial diffuse, and cleft lip with or without cleft palate" + }, + { + "baseId": "27293|27294|27295|27296|27297|27298|27299|27300|27301|27302|27303|48017|75598|100029|193523|195653|247416|275222|384414|431549|434935|439514|481500|553578|553592|791530|906184|962741|980352|980353|984043|984044", + "text": "Familial juvenile gout" + }, + { + "baseId": "27304|29054", + "text": "Alzheimer disease, late-onset, susceptibility to" + }, + { + "baseId": "27305|27306|27307|27308|27310|27311|27312|27314|27315|27316|27317|27318|27320|27322|168046|206952|206952|260860|271236|489783", + "text": "Crigler-Najjar syndrome type 1" + }, + { + "baseId": "27308|27313|27314|27314|27319|27320|27320|27325|27327|27328|40587|168042|168046|168047|168048|168053|194308|206952|206952|254471|271236|273839|274119|274667|285391|286034|288354|288356|288357|288358|288359|288775|288783|489783|491568|583212|585621|586242|587512|588639|733280|798981|798982|798983|798984|884201|884202|884203|884204|884205|884206|884207|884208|884209|884210|884211|884212|884213|884214|884215|884216|884217", + "text": "Gilbert's syndrome" + }, + { + "baseId": "27309|27313|27314|27314|27319|27320|27320|27323|27324|27325|27326|206952|271236|489463|489783", + "text": "Crigler-Najjar syndrome, type II" + }, + { + "baseId": "27314|27314|27319|27320|27320|27321|168042|168046|168047|168048|168053|194308|206952|271236|273839|274119|274667|285391|286034|288354|288356|288357|288358|288359|288775|288783|489783|491568|585621|586242|587512|588639|733280|884201|884202|884203|884204|884205|884206|884207|884208|884209|884210|884211|884212|884213|884214|884215|884216|884217", + "text": "Lucey-Driscoll syndrome" + }, + { + "baseId": "27314|27314|27319|27320|27328|206952|271236|489783", + "text": "Bilirubin, serum level of, quantitative trait locus 1" + }, + { + "baseId": "27314|27319|540561|540562|540563", + "text": "Irinotecan response" + }, + { + "baseId": "27319", + "text": "irinotecan response - Other" + }, + { + "baseId": "27319|227745|227835", + "text": "SN-38 response - Other" + }, + { + "baseId": "27325|620072", + "text": "UGT1A1-Related Disorders" + }, + { + "baseId": "27327", + "text": "Gilbert syndrome, susceptibility to" + }, + { + "baseId": "27329|27330|27331|27332|45554|45555|45556|315876|315877|315878|323016|323018|323023|323024|323026|323034|323036|323043|323044|329045|329053|329054|329058|329059|329061|329083|329092|329094|329096|329107|329111|330261|330262|330263|330267|330272|330276|330283|330291|330299|434025|461582|461584|462161|526630|526638|565032|571181|571184|640589|640590|640591|640592|640593|652201|652258|713314|724868|753070|768873|768874|820441|839253|869166|869167|869168|869169|869170|869171|869172|869173|869174|869175|869176|869177|869178|869179|872185|926451|926452|926453|926454|926455|947771|947772|947773|947774|956739|960020", + "text": "Hyper-IgM syndrome type 5" + }, + { + "baseId": "27335|27335|45580|48372|48373|76381|76382|76382|76383|99631|99633|177396|177396|214748|312567|312568|312571|312573|312573|312574|318549|318551|324674|324675|324687|324691|324691|324708|324709|324717|324717|325434|325442|353169|371272|371272|372014|372014|372221|372225|373916|373916|460915|461727|461729|504107|511902|525958|525958|526018|526021|526436|538419|565535|567071|570370|570371|622399|639793|639794|639795|639796|639797|639798|639799|652499|652510|692941|692943|701604|737801|737801|737802|744485|768251|788847|791114|791115|798638|820431|838059|838059|838060|838061|838062|838063|838064|838065|851822|867129|867130|867131|867132|867133|867134|926145|935411|935412|935413|935414|940205|947340|956418", + "text": "DPAGT1-CDG" + }, + { + "baseId": "27335|45579|45580|45580|45581|45582|45583|76382|177396|312573|324691|324717|371272|372014|372221|372225|373916|460915|461727|461729|504107|511902|525958|526018|526021|526436|538419|565535|567071|570370|570371|622399|639793|639794|639795|639796|639797|639798|639799|652499|652510|692941|692943|701604|737801|737802|744485|768251|820431|838059|838060|838061|838062|838063|838064|838065|851822|926145|935411|935412|935413|935414|940205|947340|956418", + "text": "Congenital myasthenic syndrome 13" + }, + { + "baseId": "27336|27337|246966|293414|293418|294806|294808|294817|298441|298445|298446|298447|298451|298505|298506|298512|298513|362490|698518|744105|890654|890655|890656|890657|890658|890659|890660|890661|890662|890663|890664|891793|891794", + "text": "Parkinson disease 5" + }, + { + "baseId": "27340|27341|27342|27343|27344|27345|27347|27348|27349|27350|27351|34157|34158|34159|34160|38397|38875|76399|142267|142269|171278|171279|188794|190294|191639|195272|205720|205721|231444|231445|237215|244241|244242|244243|244244|244246|244247|273732|276636|276637|276638|276640|276641|276643|276644|276646|276648|276902|276904|276910|276911|276916|276917|276919|276920|276921|276922|277483|277484|277501|277508|277513|277516|277517|277580|277581|277582|277584|277585|277599|364457|364459|364512|364518|364521|364531|364555|364603|364611|364613|404958|442643|442643|442644|447164|447165|447167|447171|447172|447241|447242|447246|447267|447271|447272|447320|447328|447333|447334|447334|447340|447347|498079|498148|498156|498161|515127|515132|515134|515140|515141|515142|515146|515147|515151|515154|515155|515156|515158|515168|515173|515175|515179|515180|515185|515186|515188|515192|515194|515286|515289|515292|515296|515297|515301|540663|540665|540666|540669|540680|556626|556628|556630|556632|556634|556636|556640|556685|556687|556689|556691|556693|556695|556697|556971|556973|556975|556977|556979|556981|558150|558152|558154|558156|558158|558160|558162|558164|575640|575643|575644|575645|575647|575648|575649|575650|575652|575653|611494|624974|624990|625727|625730|626932|626933|626934|626935|626936|626937|626938|626939|626940|626941|626942|626943|626944|626945|626946|626947|626948|626949|626950|626951|626952|626953|626954|626955|626956|626957|626958|626959|626960|626961|626962|626963|626964|626965|626966|650638|683291|690379|690380|690381|690382|690383|690384|690385|690386|690387|690388|690389|690390|695008|695009|696163|696164|696165|696166|696167|696168|706742|718284|731782|743691|743695|745751|745753|745755|745756|758809|758873|761261|761262|761265|761266|761267|761268|761270|761274|774396|780350|780355|789857|789858|789859|789860|789861|798913|799129|822830|822831|822832|822833|822834|822835|822836|822837|822838|822839|822840|822841|822842|822843|822844|822845|822846|822847|822848|822849|822850|822851|822852|822853|822854|822855|822856|822857|822858|822859|822860|850707|850731|862438|862439|862440|862441|862442|862443|862444|862445|862446|862447|862448|862449|862450|862451|864997|864998|864999|865000|865001|865002|865003|918569|921676|921677|921678|921679|921680|921681|921682|930078|930079|930080|930081|930082|930083|930084|930085|930086|930087|930088|939773|940601|940602|941511|941512|941513|952096|952097|952098|952099|952100|952101|952102|952103|952104|952105|952106|952107|952108|952109|952110|952111|966784|977450|977451|977452|977453|977454|977455|977456|977457|977458|977459|977460|977461|977462|977463|977464|977465|977466", + "text": "Hereditary insensitivity to pain with anhidrosis" + }, + { + "baseId": "27347|28950|28953|28968|28970|28972|28972|28974|28975|28977|28980|28982|28983|28985|28985|28989|28990|36273|36309|38397|47216|231445|244246|244247|276643|276910|277501|442643|447167|447334|575639|575640|575641|575642|575644|575645|575646|575647|575648|575649|575650|575651|575652|575653|575653|966784", + "text": "Familial medullary thyroid carcinoma" + }, + { + "baseId": "27352|27353|27354|27355|75297|194943|195999|249490|249491|249492|249496|277049|277050|277053|277303|277304|277308|278038|278049|278065|278068|278078|278080|278117|278119|278131|278132|493083|578368|578369|619960|619961|619962|718343|731830|743675|799144|862640|862641|862642|862643|862644|862645|862646|862647|862648|862649|862650|862651|862652|862653|862654|862655|862656|865022|865023|865024|865025|904209", + "text": "Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome" + }, + { + "baseId": "27358|27359|27360|27361|27362|133974|133975|133976|133977|133978|207496|253009|253010|253011|253017|303953|303997|304004|304006|304008|304026|304028|304030|304039|307501|307512|307514|307589|307591|307596|307598|307634|307635|307636|312558|312599|312601|312634|312642|312649|312666|312669|312671|312713|312714|312715|312725|312758|312762|312774|312775|312777|312780|540010|610600|610604|610608|730531|898749|898750|898751|898752|898753|898754|898755|898756|898757|898758|898759|898760|898761|898762|898763|898764|898765|898766|898767|898768|898769|898770|898771|898772|898773|900430|900431|900432|900433|900434", + "text": "Maturity-onset diabetes of the young, type 11" + }, + { + "baseId": "27374|27375|27376|27377|27378|27379|27380|27381|27382|27383|27384|27385|45724|103313|103314|103315|103316|103534|103535|103536|103537|103538|103539|103540|103541|103542|103543|103544|103545|103546|103547|103548|103549|103550|103551|103552|103553|103554|103555|103556|103557|103558|103559|103560|103561|103562|103563|103564|103565|103566|103567|103568|103569|103570|103571|103572|103573|103574|103575|103576|103577|103578|103579|103580|103581|103582|103583|103584|103585|103586|103587|103588|103589|103590|103591|103592|103593|103594|103595|103596|103597|103598|103599|103600|103601|103602|103603|103604|141383|141384|213624|213624|231847|231850|231851|231853|244834|244835|244836|254704|254705|318219|318226|318234|318235|318242|318243|326226|332465|332481|332496|332498|332500|334096|334100|334104|334105|334106|334108|334117|373236|375407|445071|462419|514272|527315|527632|527859|527863|537182|565674|565676|566999|567000|568162|571974|641347|641348|641349|641350|641351|652498|690049|695581|713691|725222|738810|753540|769258|769260|769261|784453|799723|799725|840190|840191|840192|840193|840194|840195|840196|840197|840198|840199|840200|840201|870260|870261|870262|870263|870264|870265|870266|870267|870268|870269|870270|872281|926709|926710|926711|926712|936225|936226|936227|936228|948133|960790", + "text": "TNF receptor-associated periodic fever syndrome (TRAPS)" + }, + { + "baseId": "27386|27387|27388|27389|27390|27394|27395|27396|27397|27400|27403|27404|27405|27412|27413|27414|27415|27416|27417|27418|27420|27421|27422|44228|50162|52757|52759|52760|52763|91599|99232|133261|133262|133263|133265|133267|133272|133273|133275|133278|133280|133281|133282|133283|133284|136456|136502|136721|139098|139100|139660|150500|150547|150657|150725|150816|151073|151197|151311|151677|151717|151987|152034|152038|152371|152480|152560|152568|152577|152630|166280|166281|166282|171191|171616|180989|180990|180991|180992|180993|180996|181004|181005|181014|181024|181026|181027|181029|185331|185334|185352|185374|185389|185394|185398|185400|185402|185403|185409|185412|185424|185426|213405|222734|222739|222744|236438|236444|236504|242978|242984|242987|242994|245067|245069|245072|330238|330239|330253|340457|340458|340461|340463|340465|340467|346157|346170|346177|346183|347481|347484|358960|358961|358962|358963|358964|358965|358966|358967|358968|363458|363505|363540|363563|363565|378811|402529|402994|403047|410276|410285|410927|432338|479321|480490|485143|485305|485507|531807|539380|539381|539382|622038|646787|878640|878641|878642|878643|878644|878645|878646|878647|878648|878649|914180|962183|964494", + "text": "Li-Fraumeni syndrome 1" + }, + { + "baseId": "27386|27393|27395|27405|27645|28939|29003|29005|29011|44227|45735|49881|53980|53985|54284|80852|83949|150855|171614|175540|179419|180995|181000|185366|185367|213392|213398|236461|236463|236468|236469|236481|242980|245074|263939|359197|362753|362826|362887|362912|363083|363092|363093|363094|363165|363201|363293|363294|363295|363296|363297|363302|363303|363304|363305|363322|363323|363390|363409|363410|363411|363412|363413|363414|363415|363453|363454|363455|363456|363457|363458|363459|363460|363461|363462|363463|363464|363465|363466|363467|363468|363484|363491|363492|363493|363494|363495|363496|363497|363498|363499|363500|363501|363502|363509|363510|363511|363528|363531|363534|363535|363574|363575|363576", + "text": "Chronic lymphocytic leukemia" + }, + { + "baseId": "27386|27388|27394|27395|27398|27404|27405|28691|28692|28694|28695|28698|29000|38549|48304|133271|152428|166215|176503|181001|185366|185367|185375|185394|213402|213526|213943|226759|232035|236461|236469|236481|242980|245074|260191|362768|362770|362771|362772|362775|362865|362866|362895|362896|362928|363089|363242|363243|363278|363279|363308|363309|363313|363314|363315|363316|363317|363318|363355|363356|363360|363482|363483|363491|363492|363493|363515|363528|363531|363534|363535|363542|363543|363544|363545|363546|363547|363548|363558|363559", + "text": "Brainstem glioma" + }, + { + "baseId": "27386|27388|27394|27395|27397|27398|27403|27404|27405|27407|27408|27409|27422|27641|27642|27652|28691|28692|28694|28695|28698|28939|48304|70450|80852|83949|133271|133272|133274|133276|133277|139098|150535|150855|151476|151595|151897|151955|152428|171613|171614|174177|176503|180995|181000|181001|181005|185345|185350|185366|185367|185371|185375|185384|185394|213392|213398|213402|213943|222738|232035|236459|236461|236462|236463|236469|236471|236477|236479|236481|242978|242980|245074|260191|260192|263939|359197|360335|362753|362775|362894|362895|362896|363067|363068|363247|363248|363249|363250|363251|363255|363293|363294|363295|363296|363297|363302|363303|363304|363305|363360|363384|363385|363386|363438|363439|363440|363441|363442|363448|363449|363450|363451|363452|363453|363454|363455|363456|363461|363462|363463|363464|363465|363466|363467|363468|363469|363470|363471|363472|363473|363474|363475|363476|363477|363478|363479|363480|363481|363482|363483|363484|363485|363486|363487|363488|363489|363490|363491|363492|363493|363494|363495|363496|363497|363498|363499|363503|363504|363505|363506|363507|363508|363512|363513|363514|363515|363516|363517|363518|363519|363520|363521|363522|363523|363524|363525|363526|363527|363528|363529|363530|363531|363532|363533|363534|363535|363536|363537|363538|363539|363540|363541|363542|363543|363544|363545|363546|363547|363548|363549|363550|363551|363552|363553|363554|363555|363556|363557|363558|363559|363560|363561|363562|363563|363564|363565|363566|363567|363568|363569|363570|363571|363572|363573", + "text": "Ovarian Serous Cystadenocarcinoma" + }, + { + "baseId": "27386|27388|27393|27394|27395|27397|27398|27403|27404|27405|27407|27408|27409|27422|27641|27642|27645|27652|28691|28692|28693|28694|28695|28696|28698|28916|28938|28939|28940|29009|29010|29011|29013|29022|31371|31378|31381|32616|32617|32618|32620|32622|32625|32627|32628|40609|44227|48304|48857|49213|49214|53970|53980|54284|54633|80852|83949|100947|133274|133276|133277|139098|150535|150855|151476|166215|166569|171613|171614|173901|176503|179419|180995|181000|185345|185350|185366|185367|185371|185384|185394|213392|213402|213943|222738|226760|236461|236462|236463|236469|236477|236481|242978|242980|245074|260191|263939|359197|362753|362755|362768|362770|362771|362772|362773|362774|362775|362777|362778|362822|362826|362860|362870|362871|362904|362905|362912|362914|362928|362933|363010|363067|363068|363107|363108|363109|363110|363113|363114|363121|363123|363186|363197|363201|363202|363222|363223|363253|363254|363258|363259|363260|363264|363265|363266|363267|363270|363271|363272|363280|363281|363282|363283|363286|363287|363288|363289|363290|363298|363299|363300|363301|363302|363303|363304|363305|363306|363307|363323|363329|363340|363341|363342|363343|363344|363345|363346|363347|363349|363350|363351|363352|363353|363354|363355|363356|363358|363359|363360|363364|363365|363366|363370|363389|363394|363395|363405|363406|363407|363408|363413|363414|363415|363438|363439|363440|363441|363442|363448|363449|363450|363451|363452|363453|363454|363455|363456|363457|363458|363459|363460|363461|363462|363463|363464|363465|363466|363467|363468|363469|363470|363471|363472|363482|363483|363484|363491|363492|363493|363494|363495|363503|363504|363505|363506|363507|363508|363512|363513|363514|363518|363519|363520|363526|363527|363528|363529|363530|363531|363534|363535|363536|363537|363538|363542|363543|363544|363545|363546|363552|363566|363567|363568|363569|363570|363571", + "text": "Transitional cell carcinoma of the bladder" + }, + { + "baseId": "27386|27395|27397|27398|27403|27407|27641|27642|27645|27652|29009|29010|29013|44227|53970|87211|88528|133272|139098|150535|150855|151595|151897|151955|171613|171614|176503|179419|180995|181005|185345|185350|185394|213402|233761|236459|236462|236463|236469|236477|236479|242978|242980|362894|362912|363067|363068|363186|363197|363202|363241|363252|363258|363259|363260|363261|363262|363263|363268|363320|363391|363392|363464|363465|363466|363467|363468|363469|363470|363471|363472|363473|363474|363475|363476|363477|363484|363485|363486|363487|363488|363489|363490|363521|363522|363523|363524|363525|363529|363530|363531|363532|363533|363536|363537|363538|363542|363543|363544|363545|363546|363549|363550|363551|363552|363572|363573", + "text": "Squamous cell carcinoma of the skin" + }, + { + "baseId": "27386|27423|432401|432410|432411", + "text": "Choroid plexus carcinoma" + }, + { + "baseId": "27390", + "text": "CODON 72 POLYMORPHISM" + }, + { + "baseId": "27390", + "text": "paclitaxel response - Efficacy, Toxicity/ADR" + }, + { + "baseId": "27390", + "text": "cyclophosphamide response - Efficacy, Toxicity/ADR" + }, + { + "baseId": "27390", + "text": "antineoplastic agents response - Efficacy, Toxicity/ADR" + }, + { + "baseId": "27390", + "text": "fluorouracil response - Efficacy, Toxicity/ADR" + }, + { + "baseId": "27390|227808", + "text": "cisplatin response - Efficacy, Toxicity/ADR" + }, + { + "baseId": "27391|31371|31378|920202", + "text": "Carcinoma of cervix" + }, + { + "baseId": "27393|27402|27403|27404|27411|181025", + "text": "Li-Fraumeni-like syndrome" + }, + { + "baseId": "27395|28694|96094|136706|136707|136708|136715|136717|136719|136720|136722|136723|137021|137022|137023|151642|550724", + "text": "Sarcoma" + }, + { + "baseId": "27395|28372|45735|87659|87660|96841|363096|363097|363098|626059|626060|626061|626062|626063", + "text": "Lymphoma" + }, + { + "baseId": "27398|27422|27641|27642|27652|28694|28695|28698|28916|29000|31378|31381|40609|70450|133276|166563|174177|176503|185366|185367|213943|236481|362775|362914|363008|363016|363123|363222|363245|363246|363255|363264|363283|363298|363299|363300|363301|363336|363352|363353|363354|363394|363395|363491|363492|363493|363542|363543|363544|363566|363567|363568", + "text": "Papillary renal cell carcinoma, sporadic" + }, + { + "baseId": "27398|28694|28695|28698|133272|176503|213943|245074|362775|362873|363289|363290|363485|363486|363487|363488|363489|363490|363528|363542|363543|363544", + "text": "Carcinoma of gallbladder" + }, + { + "baseId": "27403|389215", + "text": "Pleomorphic xanthoastrocytoma" + }, + { + "baseId": "27404", + "text": "Adenocarcinoma" + }, + { + "baseId": "27405", + "text": "Thyroid gland undifferentiated (anaplastic) carcinoma" + }, + { + "baseId": "27407", + "text": "Nasopharyngeal carcinoma" + }, + { + "baseId": "27407|27641|27642|27652|28694|28695|28698|28939|83949|139098|171613|213943|236477|245074|263939|359197|361709|362753|362775|363036|363194|363312|363528|363529|363530|363536|363537", + "text": "Nasopharyngeal Neoplasms" + }, + { + "baseId": "27408|27409|27618|27641|27642|27652|40610|100947|139098|166215|173901|236477|260213|362768|362770|362771|362772|362929|363265|363266|363267|363293|363294|363295|363296|363297|363310|363348|363364|363365|363366|363367|363368|363369|363413|363414|363415|363518|363519|363520|363529|363530|473578|486679|486680|486681|486682|486683|486684|486685|486686|486687|486688|486689|486690|486691|486692|486693|486694", + "text": "Adenoid cystic carcinoma" + }, + { + "baseId": "27413|27542|27558|209594|242512|258306|361860|363496|374588|389564|393403|401340|426686|443412|487074|508886|536912|550710|561355|570483|570491|614429|622642|792801|918826|973093|976548", + "text": "Malignant tumor of esophagus" + }, + { + "baseId": "27418|27423", + "text": "Adrenocortical carcinoma, pediatric" + }, + { + "baseId": "27419", + "text": "Choroid plexus papilloma" + }, + { + "baseId": "27424|27425", + "text": "TNF receptor binding, altered" + }, + { + "baseId": "27426|27427|28575|28576|29700", + "text": "Malaria, cerebral, susceptibility to" + }, + { + "baseId": "27427", + "text": "Septic shock, susceptibility to" + }, + { + "baseId": "27427", + "text": "Human immunodeficiency virus dementia, susceptibility to" + }, + { + "baseId": "27427", + "text": "Migraine without aura, susceptibility to" + }, + { + "baseId": "27428", + "text": "Vascular dementia, susceptibility to" + }, + { + "baseId": "27429|45806", + "text": "Alzheimer disease, protection against" + }, + { + "baseId": 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+ "text": "Tuberous sclerosis 2" + }, + { + "baseId": 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+ "text": "Familial hypertrophic cardiomyopathy 2" + }, + { + "baseId": "27447|27447|27448|27450|27450|27451|27453|27453|27454|27454|27455|27456|45545|45547|52571|52781|52784|52785|52785|52786|52787|52787|52788|52789|52790|52791|52795|52796|52797|52798|52798|52800|52801|52804|52805|52806|52807|52809|52811|52812|52816|52817|52818|52819|52820|52821|52823|52824|52825|52826|52828|52828|52829|52833|52834|52835|52836|52836|52837|52838|52839|52840|52841|52842|52843|52844|52844|52845|52846|136689|136690|136692|172354|172355|172355|172361|172362|172362|172497|172498|172499|172503|172506|178434|178436|178438|178913|178918|178920|178921|178923|178929|178930|178930|178931|178932|178935|178935|178938|178939|178942|178943|178944|178944|178954|186305|186305|189384|214101|226594|228281|228285|228285|228288|238208|238209|278568|279740|279740|279751|279841|364596|364601|390960|390976|390980|391016|391049|391055|391059|405014|414756|421199|430959|430959|430960|442697|442698|442699|447414|447415|447422|447423|447424|447426|447542|447544|447545|447552|447553|447649|447652|447677|447680|481116|498380|509125|515386|515389|515391|515457|515462|515475|515477|515481|515483|515487|515518|515532|515533|556754|556791|557110|557112|557114|558317|558319|558321|615185|627275|627276|627277|627278|627279|627280|627281|627282|627283|650606|654175|679713|685089|794538|799150|823223|823224|823225|823226|823227|823228|823229|823230|823231|823232|863309|863310|865091|865092|865093|906489|918589|921804|930239|930240|930241|930242|930243|939789|941656|952214|952215|952216|959537|959538|970671", + "text": "Left ventricular noncompaction 6" + }, + { + "baseId": "27447|27447|27448|27450|27453|27454|27457|45545|45547|52571|52781|52784|52785|52785|52786|52787|52788|52789|52790|52790|52791|52795|52796|52797|52798|52799|52800|52801|52804|52805|52806|52807|52809|52810|52811|52812|52816|52817|52818|52819|52820|52820|52821|52823|52824|52825|52826|52828|52829|52829|52833|52834|52835|52836|52837|52838|52839|52840|52841|52842|52843|52844|52844|52845|52846|136689|136690|136692|172354|172355|172361|172362|172497|172498|172499|172503|172506|178434|178436|178438|178913|178918|178920|178921|178923|178929|178930|178930|178931|178932|178935|178935|178939|178942|178943|178944|178954|186305|186305|189384|214101|228285|228288|238208|238209|278568|279740|279740|279751|279841|364596|364601|390960|390976|390980|391016|391049|391055|391059|405014|414756|421199|430959|442697|442698|442699|447414|447415|447422|447423|447424|447426|447542|447544|447545|447552|447553|447649|447652|447677|447680|481116|498380|509125|515386|515389|515391|515457|515462|515475|515477|515481|515483|515487|515518|515532|515533|556754|556791|557110|557112|557114|558317|558319|558321|615185|627275|627276|627277|627278|627279|627280|627281|627282|627283|650606|685089|794538|799150|823223|823224|823225|823226|823227|823228|823229|823230|823231|823232|863308|863309|863310|865091|865092|865093|865094|906489|921804|930239|930240|930241|930242|930243|939789|941656|952214|952215|952216|959537|959538", + "text": "Familial restrictive cardiomyopathy 3" + }, + { + "baseId": "27450|27639|27641|27642|27643|27644|27645|27646|27648|27649|27650|27651|27652|38866|38867|48901|48905|48907|48909|48910|48911|48912|48915|48916|48917|48918|54465|54467|54468|54469|54470|54471|54472|125817|138253|174801|174803|174804|174805|175214|175215|175217|179411|179412|179413|179414|179416|179417|179418|179419|223774|239987|241153|241154|241156|241157|241158|241159|254209|254210|254211|254212|372233|374139|398125|398222|398226|398227|398316|398318|398657|398664|398678|398679|398682|398759|398760|398766|421862|442535|461199|461203|461389|461391|461709|487566|494969|497621|503676|513316|526264|526298|526306|526310|526481|526483|526484|526759|564738|564743|564745|564747|567334|567338|567341|570706|621820|640150|640151|640152|640153|640154|640155|640156|640157|640158|652098|652212|652331|653969|653975|653976|687787|693059|693060|693061|693062|695528|701802|738027|744533|752702|820384|820386|820387|820388|838558|838559|838560|838561|838562|838563|838564|838565|838566|852362|926270|926271|926272|926273|926274|926275|935593|935594|935595|935596|935597|935598|935599|935600|947499|947500|947501|947502|947503|956531|956532|959992|964672|969688|977406", + "text": "Costello syndrome" + }, + { + "baseId": "27453|576344", + "text": "Familial isolated dilated cardiomyopathy" + }, + { + "baseId": "27458|27459|27460|27461|27462|27471|27472|27473|45542|52532|52533|52534|52536|52537|52541|52542|52547|52548|52554|52558|52559|52561|52565|141388|141390|171245|176074|176215|176339|179836|186575|186585|186586|231083|257237|344272|349397|861652|882545|882546|882547|882548|882937|882938|980392", + "text": "Familial hypertrophic cardiomyopathy 7" + }, + { + "baseId": "27460|40515|40525|45545|52531|52532|52534|52541|52782|52786|52801|52821|52826|52838|75286|99451|99452|99456|99457|99460|133708|136049|141390|178927|197057|198589|206767|249759|257238|257239|257242|257243|257246|257247|257248|257251|257252|257253|278453|278454|278568|279423|279424|279425|279716|279717|280963|280964|280965|281106|281107|281108|281109|322278|322281|322290|322292|322305|322315|322319|322320|322321|331578|331581|331583|331587|331597|331610|331619|331628|331630|331646|334391|334413|338527|338558|338582|338583|338588|338608|338610|338614|338623|340274|340279|340282|340299|340308|340311|340314|340316|340327|340328|340329|340336|340337|344273|350406|350409|353523|353524|353525|447811|624664|649955|679527|679554|679555|679556|690510|746246|863829|863830|863831|863832|863833|863834|863835", + "text": "Familial restrictive cardiomyopathy" + }, + { + "baseId": "27460|40515|40525|45542|52531|52532|52533|52534|52536|52537|52541|52542|52547|52548|52561|54894|54903|136049|141388|141390|176339|179136|186575|186585|186586|231083|257237|257238|257239|257242|257243|257246|257247|257248|257251|257252|257253|302201|302204|302207|302210|302214|302217|302218|302225|305395|305441|305446|305448|305449|305450|305452|310209|310230|310235|310322|310359|334391|334413|344272|344273|349397|350406|350409|353523|353524|353525|882545|882546|882547|882548|882937|882938", + "text": "Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome" + }, + { + "baseId": "27460|40515|40525|52531|52532|52534|52541|136049|141390|172233|257238|257239|257242|257243|257246|257247|257248|257251|257252|257253|306405|306413|310567|315937|315939|316166|334391|334413|344273|350406|350409|353523|353524|353525|447176|447181|447183|447187|447190|447198|447204|447206|447207|447209|447210|447247|447251|447256|447264|447273|447276|447281|447282|447284|447285|447287|447291|447297|447298|447300|447304|447308|447310|447312|447313|447354|447355|447358|447360|447363|447364|447370|447372|447374|447386|447389|447392|447393|515160|515163|515165|515167|515177|515183|515184|515187|515189|515191|515193|515196|515197|515199|515201|515205|515207|515209|515303|515304|515308|556642|556644|556699|556701|556703|556705|556983|556985|556987|556995|556996|558148|558166|558168|558170|558172|558174|626967|626968|626969|626970|626971|626972|626973|626974|626975|626976|626977|626978|626979|626980|626981|650545|690392|690393|690395|690396|690397|690398|695010|696162|696173|696176|706749|718285|729927|761279|777037|818847|822829|822861|822862|822863|822864|822865|822866|822867|822868|822869|822870|822871|822872|822873|822874|822875|822876|822877|822878|850736|851106|921683|921684|921685|921686|921687|921688|921689|921690|930089|930090|930091|930092|930093|930094|930095|930096|930097|939774|939775|941514|941515|941516|941517|952112|952113", + "text": "Dilated Cardiomyopathy, Recessive" + }, + { + "baseId": "27460|28456|28456|28457|28458|28459|28460|28461|28462|28463|28465|28465|28466|28467|28468|28469|28471|28473|28474|28475|28476|28477|28478|28479|28480|28481|28482|28483|28484|28485|28486|28487|28489|28490|28491|28492|28492|28493|28494|28495|28496|28497|28498|28499|28500|28502|28505|28507|45550|45551|45552|51713|52623|52624|52625|52626|141551|176542|176680|176681|179802|179804|179805|179806|179808|179808|179811|179812|179813|179816|189469|194297|198436|229100|230872|230873|245091|245092|245093|268248|331216|331218|346968|346970|346974|346975|348237|348238|376813|376815|402722|402791|442026|467969|469742|487972|488022|506936|516875|532239|532250|532260|532263|536022|570116|570118|570120|570121|571911|571914|571917|574739|574740|620897|647184|647185|647186|647187|647188|647189|647190|647191|653085|760730|760731|785892|791854|791855|791856|797668|821188|821200|846806|846807|846808|846809|846810|846811|846812|846813|851773|879163|879164|879165|879166|879167|879168|919795|920390|928690|928691|938416|938417|938418|938419|950501|950502|950503|958458", + "text": "Amyloidogenic transthyretin amyloidosis" + }, + { + "baseId": "27460|45542|52532|52533|52534|52536|52537|52541|52542|52547|52548|52554|52559|52561|52567|141388|141390|176218|176339|186575|186585|186586|231083|257237|259051|344272|349397|882545|882546|882547|882548|882937|882938", + "text": "Dilated cardiomyopathy 2A" + }, + { + "baseId": "27460|27462|27463|27464|27465|27467|27468|29101|45542|52532|52533|52534|52536|52537|52541|52542|52547|52548|52554|52559|52561|141388|141390|176073|176215|176339|186575|186585|186586|231083|257237|260536|260545|344272|349397|536005|882545|882546|882547|882548|882937|882938", + "text": "Familial restrictive cardiomyopathy 1" + }, + { + "baseId": "27469|27470|52554|52559|52559|176215|681872", + "text": "Dilated cardiomyopathy 1FF" + }, + { + "baseId": "27474|27475|27478|29184|40531|40532|100020|135094|135095|135096|135097|135098|135099|135100|135101|135102|135103|135104|135105|135106|135107|135108|135109|135110|135111|135112|135113|207861|208344|208345|208349|254091|254100|254104|256047|256051|256054|256055|256056|256057|256058|256059|256060|256061|256062|256063|256064|256069|256070|256075|265977|313520|319735|319756|325800|325923|326878|326880|326881|327185|327186|327187|327192|327199|327200|327201|327202|327209|327210|327215|327216|327221|327228|327231|327245|327248|327252|327253|327254|327255|337030|337031|337032|337035|337043|337049|337053|337054|337057|337065|337071|337078|337082|337084|337085|337086|343251|343263|343264|343268|343270|343275|343278|343279|343283|343284|343289|343290|343292|343295|343302|343304|343305|343306|343310|343312|344858|344860|344863|344864|344865|344866|344867|344869|344872|344873|344875|344876|504193|513366|539022|578537|578665|679765|681917|694024|694026|694027|694031|694032|694033|694038|694041|695727|703943|867709|867728|867729|867730|867731|867733|868633|868635|868639|876409|876410|876411|876412|876413|876414|876415|876416|876417|876418|876419|876420|876421|876422|876423|876424|876425|876426|876427|876428|876429|876430|876431|876752|876753|876754|876755|876756|876757|876758|876759|876760|876761|876762|876763|876764|876765|880462|964359", + "text": "Distal arthrogryposis type 2B" + }, + { + "baseId": "27475|208347|237493|247055|322600|322680|330009|330036|480565|514015|514096|514097|905018|905019|905020|905021|983306", + "text": "Distal arthrogryposis" + }, + { + "baseId": "27475|480565|480566|480567", + "text": "Ulnar deviation of the wrist" + }, + { + "baseId": "27475", + "text": "Calcaneovalgus deformity" + }, + { + "baseId": "27475", + "text": "Congenital finger flexion contractures" + }, + { + "baseId": "27479|40515|40516|40517|40523|40525|103512|136048|136049|191025|257229|257235|334388|334390|344270|349393|349396|350399|350402|376864|376867|377843|430268|469272|469277|470781|470782|470786|471289|471291|488431|507573|532393|533388|533410|533449|533456|533948|533950|570286|571088|573413|575056|575057|575058|613976|648488|648489|648490|648491|648492|648493|648494|648495|653074|653472|653586|653636|694515|772907|778657|792815|848078|848079|848080|848081|851832|851834|858788|858789|882541|882542|882543|882544|882936|929114|929115|929116|938852|938853|938854|938855|941247|950921|950922|950923|950924|958738", + "text": "Nemaline myopathy 5" + }, + { + "baseId": "27480|27481|27482|27484|53844|53844|53845|53846|53846|53848|53849|173801|173802|173943|173943|179069|179071|179073|179075|179077|179079|179080|221423|221424|229105|239289|260530|291189|291190|292148|292151|292151|295592|295721|367337|367338|368738|393757|393762|393766|393961|393963|394176|394179|453086|453105|453108|453121|453436|481126|481126|487102|495462|500616|519612|519615|519623|519872|559122|559124|559126|559128|559130|559132|563270|631741|631742|631743|651121|686457|686457|689745|691475|775027|819413|828508|828509|828510|923323|923324|932067|940762|943686|960524", + "text": "Dilated cardiomyopathy 1Z" + }, + { + "baseId": "27481|27481|27482|27482|27483|27484|27484|48431|53844|53844|53845|53846|53846|53848|53849|173801|173802|173943|173943|179069|179071|179073|179075|179077|179079|179080|221423|221424|229105|239289|260530|291189|291190|292148|292151|292151|295592|295721|367337|367338|368738|393757|393762|393766|393961|393963|394176|394179|453086|453105|453108|453121|453436|481126|481126|487102|495462|500616|519612|519615|519623|519872|559122|559124|559126|559128|559130|559132|563270|631741|631742|631743|651121|686457|686457|689745|691475|775027|819413|828508|828509|828510|923323|923324|932067|940762|943686|960524", + "text": "Familial hypertrophic cardiomyopathy 13" + }, + { + "baseId": "27485|27486|27486|27487|27487|27488|27489|27489|27490|27492|27493|51279|150176|206725|206725|236875|236876|276423|276424|276425|276466|276470|276474|276477|276484|276490|276495|276498|276499|276500|276651|276653|276662|276663|276664|276666|276667|276677|276678|276685|276693|276703|276704|276710|277182|277187|277213|277218|277230|277231|277232|277237|277266|277269|277271|277275|277276|277276|277291|277293|277297|277318|277319|277329|277330|277333|277344|277366|277375|430975|447137|447221|447294|498039|515083|515208|515220|515222|552032|556489|556651|556651|612471|626844|626845|626846|761219|789847|789848|822748|850727|862275|862276|862277|862278|862279|862280|862281|862282|862283|862284|862285|862287|862288|862289|862291|862293|862294|862295|862296|862298|862299|862300|862302|862304|862305|862306|862308|862309|862310|862311|862312|862313|862314|862315|862316|862317|862318|862319|862320|862321|862322|862323|862324|862325|862326|862327|862328|862329|862330|862331|862332|862333|862334|862335|862336|862337|862338|862339|862340|862341|862342|862343|862344|862345|864981|921645|921646|921647|921648|952072|960406|963116|964129", + "text": "Nemaline myopathy 1" + }, + { + "baseId": "27489|27493", + "text": "Cap myopathy 1" + }, + { + "baseId": "27494|27495|27496|40542|40544|40548|40549|52580|52591|52592|52619|141400|175996|176137|179749|323022|332635|332637|332642|339583|340975|340977|340980|340984|340985|615125|693707|802205|802206|873933|873934|873935|873936|873937|873938|873939|873940|876550|966357|971026", + "text": "Familial hypertrophic cardiomyopathy 3" + }, + { + "baseId": "27495|27497|27498|40544|40548|40549|52580|52590|52591|52592|52619|141400|175996|176137|248636|323022|332635|332637|332642|339583|340975|340977|340980|340984|340985|693707|873933|873934|873935|873936|873937|873938|873939|873940|876550|919585|919586|919587|980512", + "text": "Dilated cardiomyopathy 1Y" + }, + { + "baseId": "27499|27501|27503|27504|100021|100022|100024|100025|150164|150174|178104|193519|194912|253550|274163|308279|308282|308294|312682|312683|312684|312692|319124|319129|319130|439464|444491|459224|459526|459528|460065|460073|460075|460082|502950|524620|524852|524985|525138|539022|552203|563259|565912|569071|578536|578537|622438|638296|638297|655964|655965|655966|692670|692671|775415|805017|805018|820139|836143|836144|836145|836146|836147|902009|902010|902011|902012|902013|902014|902015|902016|934772|965429", + "text": "Distal arthrogryposis type 1A" + }, + { + "baseId": "27500|27501|27503|27504|100021|100022|150164|150174|226473|308279|308282|308294|312683|312684|312692|319124|319129|319130|460075|539022|608956|655964|655965|655966|902009|902010|902011|902012|902013|902014|902015|902016|965429", + "text": "Nemaline myopathy 4" + }, + { + "baseId": "27502|619842|619843", + "text": "ARTHROGRYPOSIS, DISTAL, TYPE 2B4" + }, + { + "baseId": "27504|27505|27506", + "text": "Cap myopathy 2" + }, + { + "baseId": "27507|27509|27510|27511|27512|139884|139885|318369|318370|318372|318373|318374|318380|326497|326499|326508|326525|326526|326542|332747|334368|334374|334376|334381|334382|353255|353256|609859|615918|622418|725256|725257|799727|870376|870377|870378|870379|870380|870381|870382|870383|870384|870385|870386|870387|870388|870389|870390|872288|981826", + "text": "Triosephosphate isomerase deficiency" + }, + { + "baseId": "27508", + "text": "Triosephosphate isomerase manchester" + }, + { + "baseId": "27513|27514|44673|45263|51676|53486|136111|171193|177252|186334|189960|193881|193925|193983|196533|196600|199336|227842|331167|398965|399928|522213|568296|622688|622689|624863|629097|966466|966485|966505", + "text": "Arrhythmogenic right ventricular dysplasia, familial 1" + }, + { + "baseId": "27513|45760|45761|45763|143119|153683|165589|189960|189961|189962|199890|209425|209426|209427|209429|209431|209432|209434|209442|224475|226713|226714|226715|226720|226721|228353|241889|241890|241891|241893|241894|241895|241896|241897|279021|279029|279031|279036|279038|279052|279057|279060|279076|279092|279098|279099|279114|279116|279117|279120|279124|279129|279132|279190|279191|279201|279217|279315|279317|279319|279322|279328|279331|279332|280476|280477|280478|280480|280481|280491|280500|280510|280511|280528|280529|280533|280534|280535|280537|280542|280548|280552|280553|280568|280570|280571|280572|280573|280574|280576|280579|280580|280581|280584|280609|280610|280614|280624|280625|280627|280629|330677|337312|339325|339326|361158|361850|364644|364755|364894|373181|374363|376206|376215|376217|391046|399744|399746|399925|399928|399933|399935|399946|399950|400296|400297|400537|400541|400543|400547|400548|405051|415404|445251|463499|463501|463508|463511|464101|464105|464107|464112|464114|464116|464123|464127|464134|464397|464498|464504|464505|464509|464516|464519|464522|480527|486712|504866|510506|510510|510513|510514|510517|512797|528301|528305|528309|528381|528760|528762|528768|528845|536167|537682|556784|566629|566631|566633|568286|568296|568297|569031|569032|569035|569037|572926|572928|572929|609899|611984|642729|642730|642731|642732|642733|642734|642735|642736|642737|642738|652883|652886|655064|684527|688371|784792|797070|799165|820650|841825|841826|841827|841828|841829|841830|841831|841832|841833|841834|851587|852015|863592|863593|863594|863595|863596|863597|863598|863599|863618|863619|863621|863622|863623|863624|863625|863626|863627|863628|863629|863630|863631|863632|863633|863634|863635|863636|863637|863638|863639|865116|865117|865118|927177|927178|927179|927180|936748|941067|948698|948699", + "text": "Loeys-Dietz syndrome 4" + }, + { + "baseId": "27515|27516|138646|138660|138660|165578|178594|178757|213589|221811|223687|223688|224369|258556|258559|258583|258591|258594|258610|265345|270378|270379|270418|272323|361195|363225|370210|370282|370782|370791|396986|396996|397124|397338|397391|444444|459315|459333|459370|459780|465312|480522|510047|510064|510103|524714|563079|568846|581893|581894|581895|581896|581897|581898|581899|581900|581901|581902|581903|581904|581905|581906|581907|581908|581909|581910|614340|623396|672076|919208|919209|961613|964321|965624", + "text": "Aortic valve disorder" + }, + { + "baseId": "27517|27518|27519|27520|27521|27522|27523|27524|27525|27526|27527|27528|27529|27530|27531|27532|27533|27534|27535|27536|27537|27538|27539|47521|48121|48122|48123|48124|48125|48126|48127|48128|48129|48130|48131|48132|48133|48134|48135|48136|213952|227357|237394|244096|254935|254936|260054|260055|264584|264686|264694|264796|320400|320403|320404|320405|320406|320410|329095|329100|329105|329106|329124|329126|329128|329134|329135|335710|335711|335729|335747|335757|335758|335760|337546|337550|337554|337557|337558|337566|337573|337576|337578|360047|360057|360090|360147|360189|360191|360193|409111|414713|445218|445221|547123|547125|547129|547133|547137|547138|547147|547149|547150|547155|547156|547274|547280|547289|547292|547293|547301|547304|547306|547310|547314|547316|547317|547323|547436|547439|547444|547446|547449|547454|547455|547457|547459|547461|547465|547797|547800|547806|547810|547813|547814|547816|547818|547821|547822|547823|622234|622235|622236|622237|622238|622239|622240|622241|622242|622243|622263|622264|682508|702841|714090|714091|714093|725637|725638|725639|725643|725644|725645|730934|739183|739184|739185|739186|739187|744801|744812|754001|754002|754003|754004|754006|754007|754010|754011|760298|769757|769758|769759|769760|769761|769762|769765|769766|769773|769774|769775|775930|776263|778054|784705|802085|841350|871757|871758|871759|871760|871761|871762|871763|871764|871765|871766|871767|871768|871769|871770|871771|871772|871773|872366|979476|979477|979478|979479|979480|979481|979482|979483|979484|979485|979486|979487|979488|979489|979490|979491|979492|979493|979494|979495|979496|979497|979498|979499|979500|979501|979502|979503|979504|979505|979506|979507|979508|979509", + "text": "Autosomal recessive congenital ichthyosis 1" + }, + { + "baseId": "27520|48145|213952|213955|360090|360854|361028|361275|513891|514093|514094|536019|609204|609271|801514", + "text": "Ichthyosis (disease)" + }, + { + "baseId": "27540|27541|27550|27558|53818|209594|258306|361860|389564|393403|443412|561355|614261|614262", + "text": "Hereditary nonpolyposis colorectal cancer type 6" + }, + { + "baseId": 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+ "text": "Loeys-Dietz syndrome" + }, + { + "baseId": 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+ "text": "Marfan syndrome" + }, + { + "baseId": "27541|27543|27544|27545|27546|27547|27548|27549|27550|27551|27552|27553|27554|27555|27556|27557|27558|27558|27746|45526|45528|45535|45536|45537|45538|53818|53818|53819|53825|53828|53829|53830|53833|53837|53838|53839|53840|53841|53842|53843|141338|171083|173913|175752|175753|175756|175893|175894|175895|175896|175897|175898|178514|178659|178660|189917|189921|189922|189923|198463|198465|198466|198467|198468|209594|209628|209632|213550|230432|239131|241613|241614|251089|258306|289903|289914|289915|289924|289927|289944|290674|290679|290685|290688|290690|290692|290693|290694|290696|293827|293828|293829|293833|293839|293842|293843|293870|293876|294355|294356|294362|294364|294367|294373|294376|294377|318742|318743|333225|334943|361860|372598|375478|380155|389564|389564|393403|399090|399598|399601|399859|399862|419286|443412|445104|445106|462539|462541|462543|462819|462823|462828|462831|463297|463408|463409|504127|504690|505103|510406|527425|527429|527708|527711|527958|527968|527970|552072|561355|562661|565775|565779|565781|567093|567096|567097|567098|568207|572154|614261|614262|641506|641507|641508|641509|641510|641511|684378|769367|784499|840474|840475|840476|840477|840478|840479|840480|840481|840482|840483|840484|888650|888651|888652|888653|888654|888655|888656|888657|888658|888659|888660|888661|888662|891634|926789|926790|936319|936320|936321|936322|948244|948245|957010|957011|957012|967179", + "text": "Loeys-Dietz syndrome 2" + }, + { + "baseId": "27548|101110|101111|101111|101112|101113|101115|101116|101116|101117|101118|101119|101120|101120|101121|101122|101123|101123|101125|101126|101126|101128|101129|101133|101136|101138|101140|135559|135560|135562|135563|135564|135566|135567|135568|135569|135569|135570|135570|135571|135572|135573|135574|135575|135576|135577|135578|135579|135580|135581|135581|135585|135587|135590|135591|135592|135593|135594|176982|176982|177113|177114|177244|177245|177245|177246|177376|177377|178007|178008|190463|190840|190841|191225|191382|191681|191681|191908|192016|192016|192763|192843|192843|192918|193188|193790|194028|194062|194118|194119|194600|194601|194627|194627|194646|195087|195130|195130|195130|195143|195165|195166|195173|195515|195515|195687|195687|196423|196424|196425|196426|204998|204999|205000|205000|205000|207439|207440|207442|207443|207451|207451|207452|207454|207454|207455|207456|207458|237211|237211|265480|265779|265869|265869|266388|269138|269492|269758|271076|271328|271362|271384|271384|271639|272072|272222|273754|275081|301330|301339|301346|301353|301355|301360|301362|301364|304513|304513|304524|304534|309111|309115|309116|309118|309119|309144|309150|309177|309277|309278|309293|309303|309315|309325|368816|368818|368819|368820|369398|426667|426667|428647|428648|428649|428651|441029|441030|441031|444034|444034|455889|455890|455893|455897|455905|455905|455911|455913|455914|455919|455922|455928|455932|455935|455941|455941|455949|455949|455950|455956|455960|455963|455968|456191|456193|456195|456198|456200|456206|456207|456209|456210|456213|456215|456509|456516|456518|456520|456522|456523|456527|456868|456874|456877|456879|456881|456885|456888|456890|456892|456904|456908|456910|456912|456913|456914|456915|456931|488628|488628|488848|489416|489507|489661|489661|489735|489914|492799|492833|493077|493423|501502|501834|501852|501856|502130|521909|521914|521917|521919|521922|521924|521932|521935|521938|521940|521942|521942|521944|522270|522276|522285|522287|522290|522293|522295|522297|522300|522320|522321|522323|522324|522327|522332|522335|522337|522342|522346|522349|522352|522356|522356|522677|522679|522685|522689|522692|522694|522698|522698|522701|522706|522708|536722|537514|538390|551773|561124|561131|561137|561145|561147|561148|561149|561152|561153|561161|561172|561173|561177|561179|561182|563906|563911|563912|563914|563917|563918|563921|563925|563928|566188|566198|566200|566214|566216|566228|566231|566237|566250|566254|566255|576123|576929|576930|584429|585958|587188|612768|635340|635341|635342|635343|635344|635345|635346|635347|635348|635349|635350|635351|635352|635353|635354|635355|635356|635357|635358|635359|635360|635361|635362|635363|635364|635365|635366|635367|635368|635369|635370|635371|635372|635373|635374|635375|635376|635377|635378|635379|635380|635381|635382|635383|635384|635385|635386|635387|635388|651624|692085|692086|692087|699719|699721|710674|710676|710678|722217|722218|722219|722220|722221|735851|735852|750312|750313|750314|750315|759617|759689|765937|765940|765944|765945|765948|765949|765959|775233|775240|775245|777569|777600|777667|777668|777669|779295|782699|782701|782702|782705|782707|782709|787605|793194|795944|819771|832631|832632|832633|832634|832635|832636|832637|832638|832639|832640|832641|832642|832643|832644|832645|832646|832647|832648|832649|832650|832651|832652|832653|832654|832655|832656|832657|832658|832659|832660|832661|832662|832663|832664|832665|832666|832667|832667|832668|832669|832670|832671|832672|832673|832674|832675|832676|832677|832677|832678|832679|832680|832681|832682|832683|832684|832685|832686|832687|832688|832689|832690|832691|832692|832693|832694|832695|832696|832697|832698|832699|832700|832701|832702|832703|832704|832705|832706|832707|832708|832709|832710|832711|832712|832713|832714|832715|832716|832717|832718|832719|832720|832721|832722|832723|832724|832725|832726|832727|832728|832729|832730|832731|832732|832733|832734|832735|832736|832737|832738|832739|832740|852048|852312|897097|919065|919065|919066|919067|920231|920232|920233|924530|924531|924532|924533|924534|924535|924536|924537|924538|924539|924540|924541|924542|924543|924544|924545|924546|924547|924548|924549|924550|924551|924552|924553|924554|924555|924556|924557|924558|924559|933548|933549|933550|933551|933552|933553|933554|933555|933556|933557|933558|933559|933560|933561|933562|933563|933564|933565|933566|933567|933568|933569|933570|933571|933572|933573|933574|933575|933576|933577|933578|940054|940863|940864|940865|945268|945269|945270|945271|945272|945273|945274|945275|945276|945277|945278|945279|945280|945281|945282|945283|945284|945285|945286|945287|945288|945289|945290|945291|945292|945293|945294|954946|954947|954948|954949|954950|954951|954952|954953|954954|954955|954956|954957|954958|954959|954960|954961|954962|954963|954964|954965|954966|954967|954968|954969|954970|959822|960616|963144|980924", + "text": "Epilepsy, familial temporal lobe, 7" + }, + { + "baseId": "27559|27560|27561|27562|27563|27563|27564|27565|27565|27566|45518|54260|54264|171082|171117|174577|174853|174855|210162|210164|210166|210166|240717|259758|266296|309059|309061|309069|309083|309089|309094|309095|309097|309098|309101|309105|309112|309113|309123|309124|309129|309130|309138|309140|309141|309142|309146|309147|309149|313814|313815|313818|313819|313820|313821|313823|313824|313825|313832|313838|313841|313842|313845|313847|313848|313852|313855|313865|313866|313875|313882|313883|319644|319648|319649|319653|319654|319676|319678|319685|319689|319695|319697|319702|319710|319711|319718|319719|319722|319723|319729|319736|319737|319742|319743|319754|319762|320207|320215|320222|320223|320224|320225|320231|320236|320237|320244|320245|320247|320248|320250|320251|320252|320253|320255|320256|320259|320260|320272|320273|320274|320275|320279|320280|320292|371451|459531|481489|511094|511095|614980|624396|679766|682801|789088|902639|902640|902641|902643|902644|902645|902646|902647|902648|902649|902650|902651|902652|902653|902654|902655|902657|902659|902660|902661|902662|902663|902664|902666|902667|902668|902669|902670|902671|902672|902673|902674|902675|902676|902677|902678|902679|902680|902681|902682|980336", + "text": "Loeys-Dietz syndrome 1" + }, + { + "baseId": "27565|38870|38871|38872|38873|210166", + "text": "Multiple self-healing squamous epithelioma" + }, + { + "baseId": "27567|27568|27569|27570|27571|27572|27573|47494|47495|47500|47501|47503|47504|47505|47506|47908|622462|791931|791932", + "text": "Diaphyseal dysplasia" + }, + { + "baseId": "27573", + "text": "Breast cancer, invasive, susceptibility to" + }, + { + "baseId": "27574|27575|27576|27578|27581|27582|27584|27585|27586|27588|27589|27590|27591|27592|27593|27596|27597|27598|27602|27603|27604|27605|27606|27607|27609|195583|251085|251086|289816|289819|289824|289828|289829|289832|289834|289836|289841|289847|289851|289865|289866|289869|289872|289877|289879|289884|289886|289892|289901|290576|290580|290581|290590|290591|290593|290597|290605|290610|290611|290617|290618|290619|290623|290629|290637|290643|290658|290661|290662|290664|290669|293658|293671|293674|293678|293679|293680|293684|293702|293707|293712|293713|293714|293719|293743|293745|293766|293769|293782|293783|293799|293802|293803|293804|293807|293810|293812|293817|294221|294222|294223|294226|294233|294278|294279|294308|294309|294311|294316|294325|294326|294327|294334|294345|294346|294354|362074|384479|420977|428167|432550|432553|432557|485711|485712|485713|485714|485715|485716|485717|485718|485719|485720|485721|485722|485723|485724|485725|485726|485727|485728|485729|536152|538610|698010|790381|888592|888593|888594|888595|888596|888597|888598|888599|888600|888601|888602|888603|888604|888605|888606|888607|888608|888609|888610|888611|888612|888613|888614|888615|888616|888617|888618|888619|888620|888621|888622|888623|888624|888625|888626|888627|888628|888629|888630|888631|888632|888633|888634|888635|888636|888637|888638|888639|888640|888641|888642|888643|888644|888645|888646|888647|888648|888649|891633", + "text": "Thyroid hormone resistance, generalized, autosomal dominant" + }, + { + "baseId": "27577|27578|485726", + "text": "Thyroid hormone resistance, generalized, autosomal recessive" + }, + { + "baseId": "27579|27580|27583|27587|27599|27600", + "text": "Thyroid hormone resistance, generalized" + }, + { + "baseId": "27593|289842|289852|289859|289870|290582|290583|290584|290596|290598|290604|290639|290642|293687|293688|293689|293690|293691|293692|293815|293816|294247|294249|294330|294332|294344|294352|428167", + "text": "Thyroid hormone resistance syndrome" + }, + { + "baseId": "27594|27595|27597|27601|27608|27610", + "text": "Thyroid hormone resistance, selective pituitary" + }, + { + "baseId": "27611|622415|788869|966797", + "text": "Lethal congenital contracture syndrome 2" + }, + { + "baseId": "27612", + "text": "Colon cancer, advanced" + }, + { + "baseId": "27613|27614|27615|27616|96841", + "text": "Burkitt lymphoma" + }, + { + "baseId": "27617|27618|27619|27621|27622|27623|27632|27639|27641|27642|27645|27652|28957|28958|29005|29022|44227|53985|54282|54283|54284|54291|166218|170209|173901|175715|263939|359197|362753|362840|362841|362845|362847|362912|363165|363197|363201|363323|363364|363365|363366", + "text": "Neoplasm of the thyroid gland" + }, + { + "baseId": "27618|27639|28116|28126|31378|31387|50139|57897|57909|57914|57923|57933|57958|57966|57970|57973|57983|57985|58014|58018|58027|58039|58047|58118|58143|58146|58168|58173|58183|58186|58206|58207|58213|58221|58238|58242|75214|75215|75216|75217|75218|75219|75220|75221|75222|75223|75224|75225|75226|75227|75228|75229|75230|75231|75232|75233|75234|75235|75247|75627|75648|75707|132342|462915|463279|463892|568568", + "text": "Urinary bladder cancer" + }, + { + "baseId": "27619|27621|27629|28940|48930|54290|614370", + "text": "RAS-associated autoimmune leukoproliferative disorder" + }, + { + "baseId": "27619|194404|214479|362841", + "text": "OCULOECTODERMAL SYNDROME, SOMATIC" + }, + { + "baseId": "27620", + "text": "Bladder cancer, transitional cell, somatic" + }, + { + "baseId": "27621|27639|27652|28695|28939|31366|31371|31398|44227|48246|48247|360854|827717", + "text": "Epidermal nevus" + }, + { + "baseId": "27621|27622|27641|27651|27652|44227", + "text": "Nevus sebaceous" + }, + { + "baseId": "27621|28939|44227|170209|363204|614370", + "text": "Epidermal nevus syndrome" + }, + { + "baseId": "27621|27622|29000|178328|452274|513906|513959|514053|535365|535366|535367|535368|535369|535370|535371|535372|535373|535374|535375|535376|677974", + "text": "Cerebral arteriovenous malformation" + }, + { + "baseId": "27621|83949|170209|363202|539145|539146|539147", + "text": "Vascular Tumors Including Pyogenic Granuloma" + }, + { + "baseId": "27621|682729", + "text": "Primary low grade serous adenocarcinoma of ovary" + }, + { + "baseId": "27625|27626|27629|27629|27633|27634|40605|40606|48922|48930|614370", + "text": "Cardiofaciocutaneous syndrome 2" + }, + { + "baseId": "27626|27627|27628|27629|27630|27635|27636|27640|28364|28366|28372|28379|28383|48922|48922|48930|48930|48934|48958|48964|48965|48969|48970|48977|48983|48998|49036|49153|49171|53782|55703|175394|363197|424626|432423|487033|537879|614370|624857|872157|972725|972731", + "text": "Noonan syndrome 3" + }, + { + "baseId": "27638|512968|512969|512970", + "text": "Dermatofibrosarcoma protuberans" + }, + { + "baseId": "27639|27641|27647|27648", + "text": "Myopathy, congenital, with excess of muscle spindles" + }, + { + "baseId": "27640|31370", + "text": "Spermatocytic seminoma" + }, + { + "baseId": "27641", + "text": "Epidermal nevus with urothelial cancer, somatic" + }, + { + "baseId": "27641", + "text": "Nevus, woolly hair" + }, + { + "baseId": "27651", + "text": "Costello syndrome, severe" + }, + { + "baseId": "27652|31372|31378|31381|31387|31398|363127", + "text": "Bladder carcinoma" + }, + { + "baseId": "27653", + "text": "Transferrin variant d1" + }, + { + "baseId": "27654", + "text": "Transferrin variant chi" + }, + { + "baseId": "27654|27655|27656|27658|27659|27660|27661|27662|214927|288854|288855|288865|288885|288893|288895|288903|288905|288909|289608|289609|289610|289611|289616|292594|292595|292596|292598|292600|292601|292608|292612|292613|292615|292618|292812|292813|292818|292822|292823|292824|292825|292828|620107|682854|708585|733806|759351|763639|888029|888030|888031|888032|888033|888034|888035|888036|888037|888038|888039|888040|888041|888042|888043|891573|891574", + "text": "Atransferrinemia" + }, + { + "baseId": "27655", + "text": "Transferrin variant b2" + }, + { + "baseId": "27656", + "text": "Transferrin variant c1/c2" + }, + { + "baseId": "27657", + "text": "Transferrin variant bv" + }, + { + "baseId": "27661", + "text": "Iron deficiency anemia" + }, + { + "baseId": "27663|27664|27665|27666", + "text": "Leukemia, Philadelphia chromosome-positive, resistant to imatinib" + }, + { + "baseId": "27663|27666|138312|138319|226760|226887|362830|362831|362832|362833|362882|362909|362977|362978|363229|363307", + "text": "Lymphoblastic leukemia, acute, with lymphomatous features" + }, + { + "baseId": "27669|512925|791117|801269|972520", + "text": "Sveinsson chorioretinal atrophy" + }, + { + "baseId": "27670|27671", + "text": "Posterior polymorphous corneal dystrophy 3" + }, + { + "baseId": "27672|27673", + "text": "Corneal dystrophy, Fuchs endothelial, 6" + }, + { + "baseId": 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+ "text": "Renal cysts and diabetes syndrome" + }, + { + "baseId": "27688|56736|56888|102219|172610|173163|198881|199203|199212|199237|199738|227229|266764|360828|481230|587151|818179|818635|970724|970727|970728|980305|983701", + "text": "Familial hypertrophic cardiomyopathy 9" + }, + { + "baseId": 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+ "text": "Dilated cardiomyopathy 1G" + }, + { + "baseId": 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+ "text": "Tibial muscular dystrophy" + }, + { + "baseId": 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+ "text": "Limb-girdle muscular dystrophy, type 2J" + }, + { + "baseId": 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+ "text": "Myopathy, myofibrillar, 9, with early respiratory failure" + }, + { + "baseId": 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+ "text": "Myopathy, early-onset, with fatal cardiomyopathy" + }, + { + "baseId": 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+ "text": "Carney complex, type 1" + }, + { + "baseId": "27704|426726", + "text": "Familial atrial myxoma" + }, + { + "baseId": "27709|27710|27714|426726", + "text": "Pigmented nodular adrenocortical disease, primary, 1" + }, + { + "baseId": "27712|30942|30943", + "text": "Adrenocortical tumor, somatic" + }, + { + "baseId": "27713|27714|49468|49469|49815|176495|329605|339854|339860|339863|339865|339867|339871|339887|339895|339904|345597|346936|346948|346960|346961|346964|353452|376530", + "text": "Carney complex" + }, + { + "baseId": "27715|27716|27717|27718|27719|257609|273658|337914|337916|337917|337918|337923|337924|337927|337930|337934|337939|337943|337945|337955|337956|337957|337958|347527|347532|347536|347541|347543|347544|347548|347549|347552|347554|347570|347577|347581|347585|347589|347590|347595|347596|351429|351432|351433|351436|351437|351440|351441|351444|351445|351448|351449|351452|351453|351458|351459|351462|351463|351468|351469|351472|351473|351476|351480|352436|352437|352438|352439|352440|352442|352443|352474|352475|352478|352479|352480|352481|352482|352483|352484|352485|891149|891150|891151|891152|891153|891154|891155|891156|891157|891158|891159|891160|891161|891162|891163|891164|891165|891166|891167|891168|891169|891170|891171|891172|891173|891174|891175|891176|891177|919950", + "text": "Sorsby fundus dystrophy" + }, + { + "baseId": "27720|27721|676987|676988", + "text": "Hypothyroidism, congenital, nongoitrous, 7" + }, + { + "baseId": "27723|27724|27725|27726|27727|249367|275959|276298|427630|761093|862011|964125", + "text": "Secondary hypothyroidism" + }, + { + "baseId": "27728|27729|27730|27731|27732|27733|27734|27735|27736|27737|27738|27739|27740|27741|27742|27743|27744|27745|205157|214869|227318|253043|253045|253046|253048|253050|253051|253052|253053|253054|253055|253056|253057|253058|253059|270639|304276|304281|304284|304294|304295|304296|304298|304299|304300|304305|304306|304307|304308|304313|304318|304319|304320|304321|304326|304329|304330|304340|304342|304343|304350|304357|304358|307931|307933|307934|307939|307945|307956|307962|307968|307978|307979|307980|307983|307984|307994|307995|308005|308006|308054|308055|308056|308068|308098|308103|308105|308107|308108|313044|313055|313056|313057|313059|313061|313062|313063|313064|313065|313066|313070|313073|313087|313091|313092|313093|313095|313096|313097|313098|313101|313103|313104|313105|313106|313107|313111|313112|313118|313121|313127|313129|313130|313132|313134|313144|313162|313169|313170|313175|313177|313185|313186|313187|313188|363816|428763|428764|428764|428765|428766|428767|536111|620287|620288|620289|620290|620291|620292|620293|700398|700399|700400|700402|700403|700404|700406|700408|700409|700410|711289|711290|711291|711292|711293|711294|711295|711298|722852|722854|722855|722856|722859|722861|736436|736439|736443|736447|736448|736449|736452|736455|736459|736461|744441|744449|750912|750914|750920|750927|766550|775390|779392|790781|790782|790783|796123|898914|898915|898916|898917|898918|898919|898920|898921|898922|898923|898924|898925|898926|898927|898928|898929|898930|898931|898932|898933|898934|898935|898936|898937|898938|898939|898940|898941|898942|898943|898944|898945|898946|898947|898948|898949|898950|898951|898952|898953|898954|898955|898956|898957|898958|898959|898960|898961|898962|898963|898964|898965|898966|898967|898968|898969|898970|898971|898972|898973|898974|898975|898976|898977|898978|898979|898980|898981|898982|898983|898984|898985|898986|898987|898988|898989|900444|900445|900446|900447|900448|900449|900450|900451|903695|906175", + "text": "Iodotyrosyl coupling defect" + }, + { + "baseId": "27729|240392|488076|610456|708658|739193|800373|800374|800375|800376|800379|800381|800385", + "text": "Primary Ovarian Insufficiency" + }, + { + "baseId": "27746|53829|189921|227349|404811|512859", + "text": "Dilated cardiomyopathy 1T" + }, + { + "baseId": "27747|27748|27749|27750|47574|47575|47576|47577|47578|47579|47580|47581|47581|47582|47583|47584|47585|47586|47587|47588|47589|47590|47591|47592|47593|47593|47594|47595|47596|47597|47598|47599|47600|47601|48015|141363|141364|141366|141367|141368|141369|141370|141371|211730|211735|211736|227379|260120|326054|326056|326060|326065|326071|326072|326073|326077|326078|326088|335742|335749|335753|335754|335756|335762|335763|342075|342076|342078|342088|342089|342092|342093|342096|342100|342101|342104|342105|343610|343614|343616|343620|343621|343622|343623|343625|343626|445594|682364|682365|682366|682367|875734|875735|875736|875737|875738|875739|875740|875741|875742|875743|875744|875745|875746|875747|875748|875749|875750|875751|875752|875753|875754|875755|875756|875757|875758|875759|875760|875761|875762|875763|875764|875765|875766|875767|875768|875769|876702|876703|961242|961243|961244", + "text": "Mitochondrial DNA depletion syndrome 2" + }, + { + "baseId": "27751|38860|48189", + "text": "Platelet-type bleeding disorder 13, susceptibility to" + }, + { + "baseId": "27752|32176", + "text": "Lumbar disc herniation, susceptibility to" + }, + { + "baseId": "27753|27754|27755|27756|38858|143163|614472", + "text": "Thrombophilia due to thrombomodulin defect" + }, + { + "baseId": "27753|27757|27758|27759|143163|334888|334892|334895|334897|334901|334904|334910|334913|334918|334922|334925|344760|344762|344763|344766|344773|344778|344780|344782|344783|344784|349720|349723|349724|349725|349726|349727|349730|349733|349734|349737|349739|350715|350718|350719|350722|350723|350727|350729|350732|350734|350736|350738|350740|350741|350743|350745|432342|614472|742296|797961|885868|885869|885870|885871|885872|885873|885874|885875|885876|885877|885878|885879|885880|885881|885882|885883|885884|885885|885886|885887|885888|885889|885890|885891|885892|885893", + "text": "Atypical hemolytic-uremic syndrome 6" + }, + { + "baseId": "27760|27761|27762|27764|27765|27766|299637|302255|306639|306896|306905|306954", + "text": "Thiopurine methyltransferase deficiency" + }, + { + "baseId": "27767", + "text": "Forebrain defects" + }, + { + "baseId": "27768|27769|27770|27771|27772|27775|27776|27777|38854|45601|45602|45605|45606|45607|45608|47713|47725|47727|47731|47732|173541|173543|173678|207165|229237|229238|229239|229240|239625|239629|239631|239634|239640|239641|239643|239645|239663|239675|251613|251614|251640|263518|295008|295009|295015|295110|295271|296781|296915|296945|300499|300506|300507|300508|300575|300731|300771|300775|300921|395064|395070|428346|439827|439829|439830|454179|454310|454390|454710|455105|455107|520445|521005|549224|564457|632878|633019|804862|804863|830021|892690|892691|892692|892693|892694|892695|892732|892816|892865|892866|892867|892868|892869", + "text": "Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1" + }, + { + "baseId": 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9939|829940|829941|829942|829943|829944|829945|829946|829947|829951|829953|829993|829994|829995|829996|829997|829998|829999|830000|830001|830002|830003|830004|830005|830006|830007|830008|830009|830010|830011|830012|830013|830014|830015|830016|830017|830018|830019|830020|830021|830021|830022|830023|830024|830025|830026|830027|830028|830029|830030|830031|830032|830033|830034|830035|830036|830037|830038|830039|830040|830041|830042|830043|830044|830045|830046|830047|830048|830049|830050|830051|851004|851239|851846|851882|851884|892690|892691|892692|892693|892694|892695|892732|892816|892865|892866|892867|892868|892869|923727|923728|923729|923730|923731|923737|923738|923739|923748|923771|923772|923773|923774|923775|923776|923777|923778|923779|923780|923781|923782|923783|923784|923785|923786|923787|923788|923789|923790|923791|932582|932583|932584|932585|932586|932587|932588|932589|932596|932597|932605|932606|932607|932608|932609|932610|932626|932627|932628|932629|932630|932631|932632|932633|932634|932635|932636|932637|939977|939979|940792|940794|944256|944257|944258|944259|944267|944268|944269|944270|944271|944272|944282|944283|944284|944292|944293|944294|944295|944296|944297|944298|944299|944300|944301|944302|944303|944304|944305|944306|944307|944308|944309|944310|944311|944312|944313|944314|953928|953929|953936|953937|953938|953939|953940|953941|953943|953953|953954|953955|953956|953957|953958|953959|953960|959742|959744|960548|961941|961942|961943|961944|962155", + "text": "Dyskeratosis congenita, autosomal dominant, 2" + }, + { + "baseId": "27769|38855|38856|47714", + "text": "Dyskeratosis congenita, autosomal recessive, 4" + }, + { + "baseId": "27773|28774|28775|38716", + "text": "Coronary artery disease, susceptibility to" + }, + { + "baseId": "27778", + "text": "Human immunodeficiency virus type 1, delayed disease progression with infection by" + }, + { + "baseId": "27779", + "text": "Human immunodeficiency virus type 1, rapid disease progression with infection by" + }, + { + "baseId": "27780|75336|75337|296627|296628|296629|296636|296639|296640|296650|296652|296653|296655|296657|296662|296664|296669|296672|296679|296680|298492|298493|298494|298495|298496|298498|298499|298500|298507|298515|298517|298519|298534|298535|302632|302643|302648|302649|302661|302668|302671|302919|302920|302921|302928|302929|302942|302955|302964|454785|454786|512816|520959|520963|521396|521452|521465|521467|560239|560350|560352|563007|563009|564978|633673|633674|633675|633676|633677|633678|633679|633680|633681|633682|633683|651405|651435|709784|721351|734985|744211|749393|749394|764991|764994|774995|782234|830565|830566|830567|830568|830569|830570|830571|830572|830573|830574|830575|851272|852194|893710|893711|893712|893713|893714|893715|893716|893717|893718|893719|893720|893721|893722|893723|893724|893725|893726|893727|893728|893729|893730|893731|893732|893733|893734|893735|893736|893737|893738|896068|896069|896070|896071|896072|923963|923964|923965|923966|923967|923968|932807|932808|932809|932810|932811|932812|932813|932814|932815|944506|944507|961945", + "text": "Lymphoproliferative syndrome 1" + }, + { + "baseId": "27781|47516|47517|451480|451483|451749|451829|451833|518649|518743|518846|560995|614254|614255|630609|630610|630611|630612|630613|651010|719997|759157|763453|763454|774789|819280|819281|827095|827096|827097|827098|827099|827100|827101|827102|827103|827104|827105|922943|922944|922945|931614|931615|943144|943145|943146|943147|943148|953250|953251|959659|980448", + "text": "Cd8 deficiency, familial" + }, + { + "baseId": "27782|614354|799641|980466", + "text": "Common variable immunodeficiency 6" + }, + { + "baseId": "27783|27784|44470|44471|140393|312516|312519|318476|318478|318493|324593|324594|324596|325307|325314|325317|325319|325320|460900|487495|526014|526423|564448|570331|639739|639740|639741|639742|759838|759842|768222|783875|838023|838024|838025|838026|838027|838028|838029|838030|851427|867085|867086|867087|867088|867089|867090|867091|867092|867093|867094|867095|867096|867097|868606|868607|926136|956399", + "text": "Immunodeficiency 18" + }, + { + "baseId": "27785", + "text": "Immunodeficiency 18, severe combined immunodeficiency variant" + }, + { + "baseId": "27786|27787|44469|178842|312522|318496|318499|324597|324598|325321|325323|325325|408277|461235|525950|526017|526425|526428|639743|639744|639745|639746|639747|639748|759916|768227|768228|768229|820428|838031|838032|838033|838034|838035|838036|838037|867098|867099|868608|926137|935405|947336|956400", + "text": "Immunodeficiency 19" + }, + { + "baseId": "27788|27789|27790|27791|171727|404974|447345|447352|447361|447362|447366|447408|447464|515270|515300|515305|515349|556735|557030|558218|614188|627056|627057|650689|690407|695014|695015|731840|761311|761312|786983|822974|822975|850935|921729|921730|921731|921732|921733|921734|921735|930143|930144|930145|930146|930147|959530|980438", + "text": "Immunodeficiency due to defect in cd3-zeta" + }, + { + "baseId": "27792|27793|106498|312540|312541|312548|312549|318503|318516|324602|324608|324614|325331|325336|325344|325348|460902|460944|461237|525953|525954|526091|526094|564450|565528|567054|639749|639750|639751|639752|639753|639754|639755|787621|838038|838039|852332|867100|867101|867102|867103|867104|867105|867106|867107|867108|867109|926138|935406|940989|956401", + "text": "Immunodeficiency 17" + }, + { + "baseId": "27794|27795", + "text": "Obesity, association with" + }, + { + "baseId": "27809", + "text": "Leigh syndrome due to mitochondrial complex IV deficiency" + }, + { + "baseId": "27809|211361|211368|214997|214999|539019|539184", + "text": "Charcot-Marie-Tooth disease, type 4k" + }, + { + "baseId": "27809|226957|359794|553143", + "text": "Abnormal pyramidal signs" + }, + { + "baseId": "27809|51184|205801|263335|359794|360846|361043|361060|361061|361062|361062|402131|539978|568036|801183|801191|801192", + "text": "Dysarthria" + }, + { + "baseId": "27809|32660|32660|191616|205181|260246|265299|359794|360807|360821|360837|360838|360892|360956|361025|361025|361047|439927|513930|514049|514063|623675|624121|677222|677251|682759|972894", + "text": "Muscle weakness" + }, + { + "baseId": "27810|27811|27812|27813|48740|139739|167463|167463|167464|221191|238787|238788|289810|481373|789114|790237|790238|790239|790240|790241|790242|790243|790244|961837|961838", + "text": "Diarrhea 5, with tufting enteropathy, congenital" + }, + { + "baseId": "27814|27815|139739|167463|238782|238787|250741|250742|961261", + "text": "Hereditary nonpolyposis colorectal cancer type 8" + }, + { + "baseId": "27816", + "text": "Superoxide dismutase, elevated extracellular" + }, + { + "baseId": 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+ "text": "Paragangliomas 4" + }, + { + "baseId": "27832", + "text": "Coronary heart disease 6" + }, + { + "baseId": "27834|27835", + "text": "ADRENAL INSUFFICIENCY, NR5A1-RELATED" + }, + { + "baseId": "27835|260482|562691", + "text": "46,XX sex reversal 4" + }, + { + "baseId": "27843|27844|27845|27846|27847", + "text": "Premature ovarian failure 7" + }, + { + "baseId": "27849|481458|576086|789989|965357", + "text": "Leukoencephalopathy with dystonia and motor neuropathy" + }, + { + "baseId": "27850|27851", + "text": "Skin/hair/eye pigmentation, variation in, 7" + }, + { + "baseId": "27852|181300|181301", + "text": "Familial progressive hyperpigmentation with or without hypopigmentation" + }, + { + "baseId": "27853|27854|27855|27856|27857|27858|27859|27860|27861|27862|27863|27866|27867|38845|38846|48403|48404|100004|100005|190415|439068|451536|452328|452484|519025|519193|559399|561296|562611|562617|562619|590520|651042|827756|827757|918813|923105|943434|964117|974903|974904|974905|974906|974907|974908|974909|974910|974911|974912|974913|974914|974915|974916|974917|974918|974919|974920|974921|974922|974923|974924|974925|974926|974927|974928|976006", + "text": "Anophthalmia/microphthalmia-esophageal atresia syndrome" + }, + { + "baseId": "27864|27865", + "text": "Optic nerve hypoplasia and abnormalities of the central nervous system" + }, + { + "baseId": "27870|27871|27872|27873|27875|27876|27879|857684", + "text": "Elliptocytosis 3" + }, + { + "baseId": "27874|27876|27877|27878|27880|27881|27882|27890|187086|227359|511038|535255|535256|535257|535258|535259|535260|788957|799777|858569|970998", + "text": "Spherocytosis type 2" + }, + { + "baseId": "27875|27885|27888|27893|27894|27895|27896|27897|27898|27901|27904|237022|249424|249425|249426|249427|249428|249429|249430|249431|249432|249433|249434|249435|249437|249438|249439|249440|249441|249443|249446|249447|249448|249449|249450|249451|249452|249454|249455|249456|249457|249458|249459|249460|249461|249462|249463|249464|249465|249466|249467|249468|249469|249471|249472|276656|276660|276671|276673|276674|276675|276676|276686|276691|276697|276698|276699|276700|276701|276702|276712|276713|276714|276715|276716|276717|276718|276719|276720|276721|276722|276725|276726|276727|276728|276730|276731|276732|276733|276738|276739|276740|276744|276746|276758|276761|276762|276763|276935|276936|276949|276950|276955|276956|276957|276958|276967|276971|276975|276985|276986|276987|276988|276994|276995|276996|276997|277001|277002|277003|277004|277010|277011|277015|277016|277017|277018|277023|277024|277028|277029|277030|277518|277519|277521|277522|277523|277524|277525|277526|277527|277528|277546|277548|277549|277553|277556|277564|277565|277568|277570|277571|277572|277573|277574|277575|277586|277596|277597|277601|277602|277603|277604|277606|277607|277609|277610|277611|277622|277623|277627|277628|277631|277646|277653|277655|277656|277657|277659|277662|277663|277665|277666|277691|277692|277701|277706|277713|277715|277716|277717|277721|277722|277727|277730|277732|277733|277734|277735|277737|277739|277740|277741|277743|277750|277761|364557|535241|535244|552282|553135|609359|609361|609362|609364|696193|718293|745764|745765|777020|789862|789863|789864|794457|799137|862452|862453|862454|862455|862456|862457|862458|862459|862460|862461|862462|862463|862464|862465|862466|862467|862468|862469|862470|862471|862472|862473|862474|862475|862476|862477|862478|862479|862480|862481|862482|862483|862484|862485|862486|862487|862488|862489|862490|862491|862492|862493|862494|862495|862496|862497|862498|862499|862500|862501|865004|865005|865006|865007|865008|865009|865010|865011|865012|865013|865014", + "text": "Hereditary pyropoikilocytosis" + }, + { + "baseId": "27878", + "text": "ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL" + }, + { + "baseId": "27883|27884|27886|27887|27888|27889|27890|27890|27891|27892|27893|27894|27895|27896|27898|27899|27900|237022|249424|249425|249426|249427|249428|249429|249430|249431|249432|249433|249434|249435|249437|249438|249439|249440|249441|249443|249446|249447|249448|249449|249450|249451|249452|249454|249455|249456|249457|249458|249459|249460|249461|249462|249463|249464|249465|249466|249467|249468|249469|249471|249472|276656|276660|276674|276675|276676|276697|276698|276699|276700|276701|276702|276712|276713|276714|276715|276716|276717|276718|276719|276720|276721|276722|276725|276727|276728|276730|276731|276732|276733|276738|276739|276740|276744|276746|276758|276761|276762|276935|276936|276956|276957|276958|276967|276971|276975|276985|276986|276987|276988|276994|276995|276996|276997|277001|277002|277003|277010|277011|277015|277016|277017|277018|277023|277024|277028|277029|277030|277519|277523|277524|277525|277527|277546|277549|277553|277556|277564|277565|277568|277570|277571|277572|277573|277574|277575|277586|277596|277597|277601|277602|277603|277606|277607|277609|277622|277628|277631|277646|277655|277656|277657|277659|277662|277663|277665|277666|277691|277692|277701|277706|277713|277715|277716|277717|277721|277722|277733|277734|277735|277737|277739|277740|277741|277743|364557|535241|535244|609359|609361|609362|609364|696193|718293|745764|745765|777020|794457|799137|816434|862452|862453|862454|862455|862456|862457|862458|862459|862460|862461|862462|862463|862464|862465|862466|862467|862468|862469|862470|862471|862472|862473|862474|862475|862476|862477|862478|862479|862480|862481|862482|862483|862484|862485|862486|862487|862488|862489|862490|862491|862492|862493|862494|862495|862496|862497|862498|862499|862500|862501|865004|865005|865006|865007|865008|865009|865010|865011|865012|865013|865014|964132", + "text": "Elliptocytosis 2" + }, + { + "baseId": "27885", + "text": "Spherocytosis, type 3, autosomal recessive" + }, + { + "baseId": "27885|27898|27902|27903|237022|249424|249425|249426|249427|249428|249429|249430|249431|249432|249433|249434|249435|249437|249438|249439|249440|249441|249443|249446|249447|249448|249449|249450|249451|249452|249454|249455|249456|249457|249458|249459|249460|249461|249462|249463|249464|249465|249466|249467|249468|249469|249471|249472|276656|276660|276674|276675|276676|276697|276698|276699|276700|276701|276702|276712|276713|276714|276715|276716|276717|276718|276719|276720|276721|276722|276725|276727|276728|276730|276731|276732|276733|276738|276739|276740|276744|276746|276758|276761|276762|276935|276936|276956|276957|276958|276967|276971|276975|276985|276986|276987|276988|276994|276995|276996|276997|277001|277002|277003|277010|277011|277015|277016|277017|277018|277023|277024|277028|277029|277030|277519|277523|277524|277525|277527|277546|277549|277553|277556|277564|277565|277568|277570|277571|277572|277573|277574|277575|277586|277596|277597|277601|277602|277603|277606|277607|277609|277622|277628|277631|277646|277655|277656|277657|277659|277662|277663|277665|277666|277691|277692|277701|277706|277713|277715|277716|277717|277721|277722|277733|277734|277735|277737|277739|277740|277741|277743|364557|488176|535241|535243|535244|538329|609359|609361|609362|609364|696193|718293|745764|745765|777020|788728|794457|799137|862452|862453|862454|862455|862456|862457|862458|862459|862460|862461|862462|862463|862464|862465|862466|862467|862468|862469|862470|862471|862472|862473|862474|862475|862476|862477|862478|862479|862480|862481|862482|862483|862484|862485|862486|862487|862488|862489|862490|862491|862492|862493|862494|862495|862496|862497|862498|862499|862500|862501|865004|865005|865006|865007|865008|865009|865010|865011|865012|865013|865014|904187|918570|920128|920129", + "text": "Spherocytosis type 3" + }, + { + "baseId": "27895|623741", + "text": "Prenatal anemia" + }, + { + "baseId": "27900", + "text": "Pyropoikilocytosis" + }, + { + "baseId": "27906|44156|142972|143003|143019|168759|168761|168762|168763|168764|168765|168768|168770|168771|168772|168776|168777|168779|168780|168784|168787|168788|168790|168792|168794|194022|202393|202433|202442|202454|370632|372248|421712|428923|428926|442553|459394|486750|563532|565554|612845|613759|614336|621028|625806|626184|653813|789348|790845|917796|919185|919186|919187|920262|946388|964310|964311|964312|964313|964314|964315|964316|970895|970896|975942|976518|983776", + "text": "Early infantile epileptic encephalopathy 5" + }, + { + "baseId": "27907|27908|27910|27911|49111|49113|49125|49134|49135|49148|49154|49167|49172|49176|49178|49186|49192|54510|54515|54517|54520|54524|54529|54541|54548|142932|142939|173525|173668|173668|179029|179037|179037|179038|228963|228965|265889|286235|286237|286238|286245|286265|286272|286277|286285|286289|286291|286291|286296|286297|286298|286986|286987|286991|286992|286993|286997|286998|286999|287014|287020|287031|287051|289312|289322|289323|289327|289329|289330|289331|289335|289354|289356|289673|289686|289687|289689|289700|289706|289730|289731|289732|289733|289735|392656|417660|417661|417662|442511|442519|450901|451196|494957|518329|552535|620088|624074|884865|884866|884867|884868|884869|884870|884871|884872|884873|884874|884875|884876|884877|884878|884879|884880|884881|884882|884883|884884|884885|884886|884887|884888|884889|884890|884891|884892|884893|884894|884895|884896|884897|884898|884899|884900|884901|884902|884903|884904|884905|884906|884907|884908|884909|884910|884911|884912|884913|884914|884915|884916|884917|884918|887363|918772|920178|920179|980446", + "text": "Gingival fibromatosis 1" + }, + { + "baseId": "27908|27908|27909|27910|27910|27911|27911|27912|49111|49113|49125|49132|49134|49135|49142|49148|49153|49154|49162|49167|49169|49172|49176|49178|49186|49192|49196|49199|54510|54515|54517|54520|54524|54529|54541|54548|125843|142932|142939|173525|173668|173668|179037|179038|228963|228965|264097|265889|286235|286237|286238|286245|286265|286272|286277|286285|286289|286291|286291|286296|286297|286298|286986|286987|286991|286992|286993|286997|286998|286999|287014|287020|287031|287051|289312|289322|289323|289327|289329|289330|289331|289335|289354|289356|289673|289686|289687|289689|289700|289706|289730|289731|289732|289733|289735|392656|437668|442511|442519|451196|518215|518329|552535|583086|624847|818215|884865|884866|884867|884868|884869|884870|884871|884872|884873|884874|884875|884876|884877|884878|884879|884880|884881|884882|884883|884884|884885|884886|884887|884888|884889|884890|884891|884892|884893|884894|884895|884896|884897|884898|884899|884900|884901|884902|884903|884904|884905|884906|884907|884908|884909|884910|884911|884912|884913|884914|884915|884916|884917|884918|887363|921224|964201|975856|980315|980446|983791", + "text": "Noonan syndrome 4" + }, + { + "baseId": 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+ "text": "Noonan syndrome 1" + }, + { + "baseId": "27911|48817|48818|48819|48955|49054|49134|49151|49154|49203|49288|53997|54540|70449|179102|359443|462420|533045|624073|624074", + "text": "Noonan syndrome and Noonan-related syndrome" + }, + { + "baseId": "27913", + "text": "Somatostatin analog, resistance to" + }, + { + "baseId": 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+ "text": "Seizures, benign familial infantile, 3" + }, + { + "baseId": 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+ "text": "Early infantile epileptic encephalopathy 11" + }, + { + "baseId": 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+ "text": "Complex neurodevelopmental disorder" + }, + { + "baseId": 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+ "text": "Generalized epilepsy with febrile seizures plus, type 2" + }, + { + "baseId": 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+ "text": "Severe myoclonic epilepsy in infancy" + }, + { + "baseId": "27921|99543|201449|206884|362597|486877|486898|621100|916835", + "text": "Autosomal dominant epilepsy" + }, + { + "baseId": "27928|27932|27941|27942|45412|45412|45413|45414|45415|45415|79398|79412|79419|79420|79426|79443|79450|79450|79466|79470|79480|79481|79508|79552|79563|79567|99530|99537|99539|99546|99547|99547|99550|99559|99561|99564|99565|99568|142674|142676|142680|142688|142689|177070|187795|191002|191522|191884|192095|192292|193103|194348|201432|201481|201519|201533|201534|201560|201587|201597|206886|213804|259708|259708|259710|282505|282517|282522|282523|282527|282530|282532|282536|282541|283171|283180|283181|283182|283183|284767|284774|284775|284779|284782|284785|284786|284787|284795|284796|284797|285215|285228|285235|285238|285246|285252|285253|285256|365882|365919|421309|440563|449111|480426|486914|489670|498967|516639|516662|558853|614231|655172|655173|677407|683415|881348|881349|881350|881351|881352|881353|881354|881355|881356|881357|881358|881359|881360|881361|881362|881363|881364|881365|881366|881367|881368|882824|882825|918682|918683|918684|918685|918686|918687|918688|918689|918690|920161|920162|920163", + "text": "Familial hemiplegic migraine type 3" + }, + { + "baseId": "27935|27936", + "text": "Febrile seizures, familial, 3a" + }, + { + "baseId": "27936|31643|31644", + "text": "carbamazepine response - Dosage" + }, + { + "baseId": "27936", + "text": "phenytoin response - Dosage" + }, + { + "baseId": "27936", + "text": "carbamazepine response - Efficacy" + }, + { + "baseId": "27936", + "text": "antiepileptics response - Efficacy" + }, + { + "baseId": "27943|27944|27945|38835|38836|38837|247547|325160|325161|325162|325166|325177|325184|325185|325186|325194|325195|325201|325212|334843|334844|334845|334849|334851|334855|334863|341327|341332|341333|341335|341336|342821|342822|342823|342828|342829|342831|342832|342836|409621|432329|513129|513130|513357|620875|626317|703670|714898|792800|818325|875171|875172|875173|875174|875175|875176|875177|875178|875179|875180|875181|875182|875183|875184|875185|875186|875187|875188|875189|875190|875191|875192|876660|876661|876662|876663|964453|980373|980374|980375|980376|980377|980848", + "text": "Familial renal glucosuria" + }, + { + "baseId": "27946|27947|132588|337850|337853|337856|337862|337866|337873|337875|337878|337884|337885|337889|337892|347431|347432|347446|347447|347450|347451|347457|347458|347461|347467|347468|347471|347472|347473|347480|347491|347493|347501|351371|351373|351374|351377|351378|351380|351382|351383|351385|351386|351389|351392|351393|351394|351397|351398|351401|351402|351410|351412|351413|352397|352398|352399|352400|352401|352402|352403|352404|352405|352406|352407|352408|352411|352412|352413|352414|352415|352416|352417|431021|493545|534406|717409|717410|792056|792057|792058|891097|891098|891099|891100|891101|891102|891103|891104|891105|891106|891107|891108|891109|891110|891111|891112|891113|891114|891115|891116|891117|891118|891119|891120|891121|891122|891123|891124|891125|891126|891127|891128|891129|891130|891131|891132|891133|891134|891819|961897|980971", + "text": "Congenital glucose-galactose malabsorption" + }, + { + "baseId": 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+ "text": "Dystonia 12" + }, + { + "baseId": "27948|27954|27954|45777|45777|45778|45778|45779|45780|45780|143209|166024|167771|167772|167773|170966|170967|170968|170969|170970|170971|170972|170973|170974|170975|170976|170977|170978|170979|170980|170981|170982|170983|170984|170985|170986|170987|170988|170991|170993|170994|170995|170997|170998|170999|171000|171001|208600|265739|333688|333691|333694|333698|333701|333703|333705|333706|333707|333709|333710|333720|333722|333725|343686|343688|343690|343692|343697|343699|343701|343703|343704|349037|349038|349040|349042|349044|349046|349048|349049|349922|349923|349925|349926|349928|349930|349931|349933|349934|349935|349938|353910|360446|376590|403265|413523|413523|430223|438113|469867|470945|486226|614461|614462|648160|677461|684829|689074|802025|802026|802027|802029|882099|882100|882101|882102|882103|882104|882105|882106|882107|882899|882900|882901|882902|882903|917793|969246", + "text": "Alternating hemiplegia of childhood 2" + }, + { + "baseId": "27954|45777|45778|45780|166024|170985|213654|413523|424669|424670|614461|614462|677461|798753|964892", + "text": "Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome" + }, + { + "baseId": "27956|27957|27958|27959|27961|27962|27963|27964|27966|27967|27968|27969|133926|133928|133929|133930|133932|133933|133934|140153|140155|140160|140161|191346|191876|192087|192627|194323|201067|201071|201072|201074|201078|201085|201089|201091|201097|201102|201103|223777|249473|249474|276790|276792|276798|276804|276805|276806|276809|276810|276811|276812|276819|276821|276823|276833|276842|276851|276852|276853|277075|277087|277088|277094|277095|277097|277099|277103|277104|277106|277119|277121|277122|277123|277133|277141|277143|277688|277689|277694|277695|277698|277703|277704|277708|277710|277783|277790|277796|277797|277798|277799|277800|277806|277807|277810|277813|277815|277817|277823|277825|364561|364566|364581|364583|364609|421183|425316|440368|447338|550200|556646|558184|576423|578796|613617|627003|685579|695011|789865|822890|862536|862537|862538|862539|862540|862541|862542|862543|862544|862545|862546|862547|862548|862549|862550|862551|862552|862553|862554|862555|862556|862557|862558|862559|865015|865016|865017|865018|918572|918573|967146|983845", + "text": "Familial hemiplegic migraine type 2" + }, + { + "baseId": 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+ { + "baseId": 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+ "text": "Familial hemiplegic migraine" + }, + { + "baseId": "27965", + "text": "Migraine, familial basilar" + }, + { + "baseId": "27970|27971|236725|246984|297087|297089|297090|297091|297095|297100|297102|297103|297104|297110|297112|297116|299000|299015|299016|299019|299020|299021|299028|299029|299030|299039|299040|303238|303241|303247|303249|303255|303259|303260|303427|303429|303432|303435|303436|303438|427112|432294|779099|893979|893980|893981|893982|893983|893984|893985|893986|893987|893988|893989|893990|893991|893992|893993|893994|893995|893996|896079", + "text": "Nephrolithiasis/osteoporosis, hypophosphatemic, 1" + }, + { + "baseId": "27972|971577", + "text": "Fanconi renotubular syndrome 2" + }, + { + "baseId": "27973", + "text": "Serotonin transporter activity, increased/decreased" + }, + { + "baseId": "27974|27976", + "text": "Obsessive-compulsive disorder, susceptibility to" + }, + { + "baseId": 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"Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency" + }, + { + "baseId": 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+ "text": "Catecholaminergic polymorphic ventricular tachycardia type 1" + }, + { + "baseId": 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+ "text": "Catecholaminergic polymorphic ventricular tachycardia" + }, + { + "baseId": 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+ "text": "Arrhythmogenic right ventricular dysplasia, familial, 2" + }, + { + "baseId": 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+ "text": "Malignant hyperthermia, susceptibility to, 1" + }, + { + "baseId": 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+ "text": "RYR1-Related Disorders" + }, + { + "baseId": "28003|28009|28010|28016|99151|99159|99173|99176|99182|99211|99212|136760|136777|136845|136922|136949|169560|169580|171238|196375|196500|198030|208594|227189|227190|249603|249620|249659|256909|256920|256925|256944|256948|256958|256987|257000|257032|257035|271556|278345|278362|278378|278397|278422|278461|279471|279503|279514|279524|279597|279598|279605|279676|279688|333301|333320|333371|333375|333410|333413|333414|333420|333435|333442|333452|333453|343386|343389|343390|343420|343425|343432|343435|343440|343453|343475|343476|343479|348713|348737|348738|348740|348758|348765|348777|349738|349753|349756|349757|349764|349779|353071|917293", + "text": "Malignant hyperthermia susceptibility" + }, + { + "baseId": "28003|28004|28005|28006|28007|28008|28009|28010|28011|28012|28013|28014|28015|28017|28018|28021|28023|28032|76887|76888|136743|136775|136776|136793|136820|136822|136848|136850|136853|136911|136921|136927|136929|136930|136936|136940|136949|136953|136954|136985|275550|557106|623096|623101|623102|623103", + "text": "desflurane response - Toxicity/ADR" + }, + { + "baseId": "28003|28004|28005|28006|28007|28008|28009|28010|28011|28012|28013|28014|28015|28017|28018|28021|28023|28032|76887|76888|136743|136775|136776|136793|136820|136822|136848|136850|136853|136911|136921|136927|136929|136930|136936|136940|136949|136953|136954|136985|275550|557106|623096|623101|623102|623103", + "text": "enflurane response - Toxicity/ADR" + }, + { + "baseId": "28003|28004|28005|28006|28007|28008|28009|28010|28011|28012|28013|28014|28015|28017|28018|28021|28023|28032|76887|76888|136743|136775|136776|136793|136820|136822|136848|136850|136853|136911|136921|136927|136929|136930|136936|136940|136949|136953|136954|136985|275550|557106|623096|623101|623102|623103", + "text": "halothane response - Toxicity/ADR" + }, + { + "baseId": "28003|28004|28005|28006|28007|28008|28009|28010|28011|28012|28013|28014|28015|28017|28018|28021|28023|28032|76887|76888|136743|136775|136776|136793|136820|136822|136848|136850|136853|136911|136921|136927|136929|136930|136936|136940|136949|136953|136954|136985|275550|557106|623096|623101|623102|623103", + "text": "isoflurane response - Toxicity/ADR" + }, + { + "baseId": "28003|28004|28005|28006|28007|28008|28009|28010|28011|28012|28013|28014|28015|28017|28018|28021|28023|28032|76887|76888|136743|136775|136776|136793|136820|136822|136848|136850|136853|136911|136921|136927|136929|136930|136936|136940|136949|136953|136954|136985|275550|557106|623096|623101|623102|623103", + "text": "methoxyflurane response - Toxicity/ADR" + }, + { + "baseId": "28003|28004|28005|28006|28007|28008|28009|28010|28011|28012|28013|28014|28015|28017|28018|28021|28023|28032|76887|76888|136743|136775|136776|136793|136820|136822|136848|136850|136853|136911|136921|136927|136929|136930|136936|136940|136949|136953|136954|136985|275550|557106|623096|623101|623102|623103", + "text": "sevoflurane response - Toxicity/ADR" + }, + { + "baseId": "28003|28004|28005|28006|28007|28008|28009|28010|28011|28012|28013|28014|28015|28017|28018|28021|28023|28032|76887|76888|136743|136775|136776|136793|136820|136822|136848|136850|136853|136911|136921|136927|136929|136930|136936|136940|136949|136953|136954|136985|275550|557106|623096|623101|623102|623103", + "text": "succinylcholine response - Toxicity/ADR" + }, + { + "baseId": 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+ "text": "Central core myopathy" + }, + { + "baseId": 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+ "text": "Minicore myopathy with external ophthalmoplegia" + }, + { + "baseId": "28016", + "text": "History of neonatal hypotonia" + }, + { + "baseId": "28016|48983|49142|360837|360838|361092|581713|623603|800785|801079", + "text": "Ptosis" + }, + { + "baseId": "28016", + "text": "Sacral agenesis" + }, + { + "baseId": 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+ "text": "Neuromuscular disease, congenital, with uniform type 1 fiber" + }, + { + "baseId": "28022|28023|136794|581590", + "text": "Central core disease, autosomal recessive" + }, + { + "baseId": "28023|136775|136776|136985", + "text": "volatile anesthetics response - Toxicity/ADR" + }, + { + "baseId": "28028|39430|99791|360798|360799|360810|360882|513914", + "text": "EMG abnormality" + }, + { + "baseId": "28036|28037|28204", + "text": "Retinitis pigmentosa 7, digenic" + }, + { + "baseId": "28037|28201|28203|28211|28217|28218|28219|28220|104587|192225", + "text": "Retinitis pigmentosa 7" + }, + { + "baseId": "28038|28039|94532|106497", + "text": "Diamond-Blackfan anemia 4" + }, + { + "baseId": "28040|28041|28042|289809|290574|290575|293655|294198|294202|294207|294208|451802|519049|559413|559415|562637|651033|798527|819361|819362|851554|888590|888591|931873", + "text": "Diamond-Blackfan anemia 5" + }, + { + "baseId": "28043|28044|678173|678174|678175|678176|678177|678178|678179|678180|678181|678182|678183|678184|678185|678186|678187|678188|678189|678190|678191|678192|678193|678194|678195|678196|678197|678198|678199|678200|678201|678202|678203|678204|678205|678206|678207|678208|678209|678210|678211|678212|678213|678214|678215|678216|678217|678218|678219|678220|678221|678222|678223|678224|678225|678226|678227|678228|678229|678230|678231|678232|678233|678234|678235|678236|678237|678238|678239|678240|678241|678242|678243|678244|678245|678246|678247|678248|678249|678250|678251|678252|678253|678254|678255|678256|678257|678258|678259|678260|678261|678262|678263|678264|678265|678266|678267|678268|678269|678270|678271|678272|678273|678274|678275|678276|678277|678278|678279|678280|678281|678282|678283|678284|678285|678286|678287|678288|678289|678290|678291|678292|678293|678294|678295|678296|678297|678298|678299|678300|678301|678302|678303|678304|678305|678306|678307|678308|678309|678310|678311|678312|678313|678314|678315|678316|678317|678318|678319|678320|678321|678322|678323|678324|678325|678326|678327|678328|678329|678330|678331|678332|678333|678334|678335|678336|678337|678338|678339|678340|678341|678342|678343|678344|678345|678346|678347|678348|678349|678350|678351|678352|678353|678354|678355|678356|678357|678358|678359|678360|678361|678362|678363|678364|678365|678366|678367|678368|678369|678370|678371|678372|678373|678374|678375|678376|678377|678378|678379|678380|678381|678382|678383|678384|678385|678386|678387|678388|678389|678390|678391|678392|678393|678394|678395|678396|678397|678398|678399|678400|678401|678402|678403|678404|678405|678406|678407|678408|678409|678410|678411|678412|678413|678414|678415|678416|678417|678418|678419|678420|678421|678422|678423|678424|678425|678426|678427|678428|678429|678430|678431|678432|678433|678434|678435|678436|678437|678438|678439|678440|678441|678442|678443|678444|678445|678446|678447|678448|678449|678450|678451|678452|678453|678454|678455|678456|678457|678458|678459|678460|678461|678462|678463|678464|678465|678466|678467|678468|678469|678470|678471|678472|678473|678474|678475|678476|678477|678478|678479|678480|678481|678482|678483|678484|678485|678486|678487|678488|678489|678490|678491|678492|678493|678494|678495|678496|678497|678498|678499|678500|678501|678502|678503|678504|678505|678506|678507|678508|678509|678510|678511|678512|678513|678514|678515|678516|678517|678518|678519|678520|678521|678522|678523|678524|678525|678526|678527|678528|678529|678530|678531|678532|678533|678534|678535|678536|678537|678538|678539|678540|678541|678542|678543|678544|678545|678546|678547|678548|678549|678550|678551|678552|678553|678554|678555|678556|678557|678558|678559|678560|678561|678562|678563|678564|678565|678566|678567|678568|678569|678570|678571|678572|678573|678574|678575|678576|678577|678578|678579|678580|678581|678582|678583|678584|678585|678586|678587|678588|678589|678590|678591|678592|678593|678594|678595|678596|678597|678598|678599|678600|678601|678602|678603|678604|678605|678606|678607|678608|678609|678610|678611|678612|678613|678614|678615|678616|678617|678618|678619|678620|678621|678622|678623|678624|678625|678626|678627|678628|678629|678630|678631|678632|678633|678634|678635|678636|678637|678638|678639|678640|678641|678642|678643|678644|678645|678646|678647|678648|678649|678650|678651|678652|678653|678654|678655|678656|678657|678658|678659|678660|678661|678662|678663|678664|678665|678666|678667|678668|678669|678670|678671|678672|678673|678674|678675|678676|678677|678678|678679|678680|678681|678682|678683|678684|678685|678686|678687|678688|678689|678690|678691|678692|678693|678694|678695|678696|678697|678698|678699|678700|678701|678702|678703|678704|678705|678706|678707|678708|678709|678710|678711|678712|678713|678714|678715|678716|678717|678718|678719|678720|678721|678722|678723|678724|678725|678726|678727|678728|678729|678730|678731|678732|678733|678734|678735|678736|678737|678738|678739|678740|678741|678742|678743|678744|678745|678746|678747|678748|678749|678750|678751|678752|678753|678754|678755|678756|678757|678758|678759|678760|678761|678762|678763|678764|678765|678766|678767|678768|678769|678770|678771|678772|678773|678774|678775|678776|678777|678778|678779|678780|678781|678782|678783|678784|678785|678786|678787|678788|678789|678790|678791|678792|678793|678794|678795|678796|678797|678798|678799|678800|678801|678802|678803|678804|678805|678806|678807|678808|678809|678810|678811|678812|678813|678814|678815|678816|678817|678818|678819|678820|678821|678822|678823|678824|678825|678826|678827|678828|678829|678830|678831|678832|678833|678834|678835|678836|678837|678838|678839|678840|678841|678842|678843|678844|678845|678846|678847|678848|678849|678850|678851|678852|678853|678854|678855|678856|678857|678858|678859|678860|678861|678862|678863|678864|678865|678866|678867|678868|678869|678870|678871|678872|678873|678874|678875|678876|678877|678878|678879|678880|678881|678882|678883|678884|678885|678886|678887|678888|678889|678890|678891|678892|678893|678894|678895|678896|678897|678898|678899|678900|678901|678902|678903|678904|678905|678906|678907|678908|678909|678910|678911|678912|678913|678914|678915|678916|678917|678918|678919|678920|678921|678922|678923|678924|678925|678926|678927|678928|678929|678930|678931|678932|678933|678934", + "text": "Prostate cancer, hereditary, 1" + }, + { + "baseId": "28046|28047|287533|287536|287537|287539|288295|288302|288303|288313|288314|291093|291094|291261|291267|291268|291269|291271|622953|885651|885652|885653|885654|885655|885656|885657|885658|885659|885660|885661|885662|885663|885664|885665|885666|916884|917429|964654", + "text": "Deficiency of ribose-5-phosphate isomerase" + }, + { + "baseId": "28048|28049|28050|28051|50332|512938|623880|858596|858597|858598|858599|858600|858601|858602|858603|858604|858605|858606|858607|858608|858609|858610|858611|972477", + "text": "Oguchi disease 2" + }, + { + "baseId": "28052|28052|28053|28054|28055|28056|28057|28058|28059|28060|28061|28062|28063|28064|28065|28066|28067|28068|28069|28070|28071|28072|28073|28074|28076|28077|28078|28079|28081|28082|28085|28086|28087|28088|28089|28090|28091|28092|28094|28095|152797|193443|404762|431666|486336|585498|613629|613630|613631|613632|613633|613634|613635|613636|613637|613638|622873|623273|623832|790329|790330|790331|790332|790333|799312|799313|800488|815978|827534|827535|851025|856279|856280|856283|856284|856288|856289|856293|943326|970753|970754|972851|972852|972853|972854|972855|972856|972857|972859|972860|972861|972862|972863|972864|972865|972866|972867|972868|972870|972871|972872|972873|972874", + "text": "Retinitis pigmentosa 4" + }, + { + "baseId": "28052|28083|28084|28093|152800|190277|250919|250920|250921|250922|288724|288725|288729|288730|288733|288736|288745|288748|288749|289456|289458|289463|289469|289484|289489|289490|289493|289494|292512|292515|292516|292519|292520|292530|292533|292534|292535|292685|292689|292695|292710|292724|292732|292733|292734|292736|292737|404762|585498|620104|747971|827540|887948|887949|887950|887951|887952|887953|887954|887955|887956|887957|887958|887959|887960|887961|887962|887963|887964|887965|887966|887967|887968|887969|887970|887971|887972|887973|887974|891564|891565|972859|972869", + "text": "Congenital stationary night blindness, autosomal dominant 1" + }, + { + "baseId": "28053|513929|514148|641434", + "text": "Nyctalopia" + }, + { + "baseId": "28053|40114|40115", + "text": "Peripheral visual field loss" + }, + { + "baseId": "28053|104561|513966|513994", + "text": "Blurred vision" + }, + { + "baseId": "28067|28136|28138|28139|28140|189092|623000|800526|800579", + "text": "Retinitis punctata albescens" + }, + { + "baseId": "28075|28085|38830", + "text": "Retinitis pigmentosa 4, autosomal recessive" + }, + { + "baseId": "28096|28097|28099|28100|28101|28103|28104|28105", + "text": "Rh-null, regulator type" + }, + { + "baseId": "28098|28102", + "text": "Rh mod blood group phenotype" + }, + { + "baseId": "28106|28107|49861|919305|920289|964845", + "text": "Retinal dystrophy, iris coloboma, and comedogenic acne syndrome" + }, + { + "baseId": 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902|840903|840904|840905|840906|840907|840908|840909|840910|840911|840912|840913|840914|840915|840916|840917|840918|840919|840920|840921|840922|840923|840924|840925|840926|840927|840928|840929|840930|840931|840932|840933|840934|840935|840936|840937|840938|840939|840940|840941|840942|840943|840944|840945|840946|840947|840948|840949|840950|840951|840952|840953|840954|840955|840956|840957|840958|840959|840960|840961|840962|840963|840964|840965|851531|851533|851535|851537|851973|851975|852541|852542|852718|852719|852721|871383|871384|871385|871386|871387|871388|871389|871390|871391|871392|871393|871394|871395|871396|871397|872343|872344|872345|920323|920324|920325|926921|926922|926923|926924|926925|926926|926927|926928|926929|926930|926931|926932|926933|926934|926935|926936|926937|926938|936447|936448|936449|936450|936451|936452|936453|936454|936455|936456|936457|936458|936459|936460|936461|936462|936463|936464|936465|936466|936467|936468|936469|936470|936471|936472|936473|936474|940286|940287|940288|940289|940290|941052|941053|941054|948372|948373|948374|948375|948376|948377|948378|948379|948380|948381|948382|948383|948384|948385|948386|948387|948388|948389|948390|948391|948392|948393|948394|948395|948396|948397|957108|957109|957110|957111|957112|957113|960072|960073|960798|966602|966603|966604|966605|966606|966607|983560|983561|983562", + "text": "Retinoblastoma" + }, + { + "baseId": "28126|185345", + "text": "Vulvar adenocarcinoma of mammary gland type" + }, + { + "baseId": "28129", + "text": "Retinoblastoma, trilateral" + }, + { + "baseId": "28137|28138|98754|194294|265976|268054|323448|323451|323456|323458|323459|323460|323461|323472|323473|333147|333149|333151|333153|333160|333162|333163|339985|339987|339991|339993|339996|339999|341371|341373|341378|341381|341382|341384|341387|726328|874211|874212|874213|874214|874215|874216|874217|874218|874219|874220|874221|874222|874223|874224|876583|876584|876585", + "text": "Newfoundland rod-cone dystrophy" + }, + { + "baseId": "28139|189092", + "text": "Bothnia retinal dystrophy" + }, + { + "baseId": "28139|28140|495363", + "text": "RLBP1-Related Disorders" + }, + { + "baseId": "28141", + "text": "Retinitis pigmentosa 57" + }, + { + "baseId": "28142|28143|28144|28145|28147|28148|177924|214454|226524|226525|227273|293979|367986|431675|513054|513951|551536|551537|551538|551539|551540|551541|623839|672057|918902|918903|920204|974513|974514", + "text": "Retinitis pigmentosa 40" + }, + { + "baseId": "28146|98674|98675|98676|106440|142341|142342|142343|142347|177922|190238|190239|192618|194288|194815|260350|266047|266049|271310|272984|293969|293970|293971|293978|293979|293980|293981|293985|293986|295264|295265|295273|295274|295279|295342|295348|295374|295375|295378|295379|295380|295386|295392|295395|295399|295400|295401|295404|295406|295407|295408|295416|299055|299091|299092|299102|299103|299104|299112|299115|299117|299125|299139|299140|299141|299144|299145|299151|299152|299153|299156|299164|299172|299173|299186|299187|299192|299193|299198|299199|299202|299205|299208|299210|299231|299233|367986|734694|764606|829437|829458|829459|851826|891998|891999|892000|892001|892002|892003|892004|892005|892051|892052|892053|892054|892055|892056|892057|892058|892059|892060|892061|892062|892063|892064|892065|892066|892067|892068|895986|895987|895988|895989|895990", + "text": "Congenital stationary night blindness, autosomal dominant 2" + }, + { + "baseId": "28149|28150|28151|38829|98917|106433|142336|227005|269281|296300|302411|433782|799401|799402|799403|920207", + "text": "Retinitis pigmentosa 43" + }, + { + "baseId": "28153|28153|28154|28154|28156|28156|28157|28157|28158|28158|28159|28159|38825|38825|38827|38828|38828|98766|98766|98767|98767|104710|104711|104715|104715|104718|104718|104720|104720|104724|104724|104726|104726|104727|104727|104730|104730|104731|104733|104735|104736|104736|104738|104739|104747|104748|104750|104750|104753|104756|104756|104757|104757|104759|104759|104760|104761|104761|104763|104763|104764|104770|104775|104776|104778|104778|104779|104779|104782|104783|104789|104789|104790|104792|104793|104793|104794|104794|193415|195577|281145|281146|281151|281153|281156|281764|281767|281769|282957|282958|282960|282960|282963|282966|283247|283248|283248|359276|360814|361383|418817|431611|448228|448228|448230|448370|513509|541288|541292|550246|550249|550249|551518|558585|587734|587734|612345|628252|628253|628253|628254|696860|696860|696861|696862|696863|696864|696864|707502|707503|707504|707504|719065|719065|719066|719066|719067|732571|732572|732573|746631|746632|746632|758920|758920|759059|759059|761008|762067|762071|762071|777151|777160|780761|780762|780763|789992|789993|789994|789995|789995|799224|818174|818992|824390|824391|824392|824393|824394|824394|824395|824396|824397|824398|824398|824399|824400|824401|824402|824403|856026|858499|858499|858500|858500|858501|858502|858502|858503|864771|864772|864773|864774|864775|864776|864777|864778|864779|864780|864781|864782|864783|864784|864785|864785|864786|864787|864788|864789|864790|864791|864792|864793|864794|865205|865206|865207|922156|930654|930655|930656|930657|939825|939826|939827|940648|940648|942093|942094|942095|942096|942097|942097|952510|952511|952512|952513|952514|952515|952516|952517|952518|952519|952520|952521|959569|962249|962250|962251|962252|962253|962254|962255|962256|962257|962258|962259|962260|962261|962262|962263|962264|962265|962266", + "text": "Leber congenital amaurosis 2" + }, + { + "baseId": "28153|28154|28154|28154|28155|28156|28156|28157|28157|28158|28158|28159|28159|38825|38825|38828|98766|98767|104715|104715|104718|104720|104724|104726|104727|104730|104731|104736|104739|104747|104750|104753|104756|104757|104759|104761|104763|104763|104775|104776|104778|104779|104789|104792|104793|104794|193415|195577|281153|281153|282960|283248|359276|360814|360814|361383|418817|448228|448230|448370|541288|541292|550246|550249|558585|587734|628252|628253|628254|696860|696861|696862|696863|696864|707502|707503|707504|719065|719066|719067|732571|732572|732573|746631|746632|758920|759059|761008|762067|762071|777151|777160|780761|780762|780763|789995|818174|818174|818992|824390|824391|824392|824393|824394|824395|824396|824397|824398|824399|824400|824401|824402|824403|858499|858500|858502|864785|922156|930654|930655|930656|930657|939825|939826|939827|940648|942093|942094|942095|942096|942097|952510|952511|952512|952513|952514|952515|952516|952517|952518|952519|952520|952521|959569", + "text": "Retinitis pigmentosa 20" + }, + { + "baseId": "28154|38825|104753|104763|361383|761008", + "text": "RPE65-Related Disorders" + }, + { + "baseId": "28160|177189|187661|187662|187663|187664|268145|278727|278730|278738|278740|278744|278746|278750|278759|278761|278766|278771|278774|278775|278776|278784|278792|278794|278922|278923|278930|278933|278936|278937|278943|278945|278960|278961|278962|278964|280091|280094|280097|280099|280102|280108|280109|280128|280129|280130|280131|280135|280145|280146|280147|280176|280178|280181|280182|280187|280194|280199|280200|280215|280216|280217|280220|280221|280222|280226|280229|280249|280250|280261|280269|280271|280272|280273|438752|447772|690482|690483|690484|690485|690486|690487|696441|696442|732081|799153|823311|823312|823313|823314|823315|863443|863444|863445|863446|863447|863448|863449|863450|863451|863452|863453|863454|863455|863456|863457|863458|863459|863460|863461|863462|863463|863464|863465|863466|863467|863468|863469|863470|863471|863472|930268|930269|941689", + "text": "Leber congenital amaurosis 12" + }, + { + "baseId": "28161", + "text": "Hyperproreninemia, familial" + }, + { + "baseId": "28162|28163|33102|33103|33104|33105|33106|33107|33109|33110|33111|59366|59367|59368|59369|59370|59371|205185|237023|249673|249765|250978|250979|256303|256304|256305|256306|256308|256309|256310|256311|256312|256313|256314|278513|278514|278515|278516|278526|278527|278638|278639|278640|279426|279427|279430|279431|279435|279437|279438|279439|279450|279720|279727|279728|279730|279780|279784|279795|279944|279945|279946|279952|280966|280968|280970|280971|280974|280975|280980|280981|280982|280986|280989|280990|280999|281110|281112|281115|281116|281117|281119|281126|281128|281150|281157|281158|281159|281160|289068|289071|289072|289073|289075|289798|289807|289814|289833|289837|292880|292889|292891|292892|292893|292896|292898|292901|293137|293152|293156|293158|293167|293168|293169|329278|329282|329283|329284|329291|329294|329295|329304|329306|329311|329312|329313|329318|329319|329322|329323|329325|329326|329330|329331|339518|339519|339523|339525|339532|339535|339536|339540|339542|339546|339547|339548|339554|339555|339556|339557|339568|339570|339574|339581|339588|339596|345299|345300|345304|345306|345308|345311|345314|345315|345320|345321|345322|345323|345327|345334|345337|345338|345343|345344|345345|346688|346691|346692|346694|346696|346697|346700|346702|346705|346706|346707|346710|346714|346715|346718|346720|346722|346725|346726|346729|346730|346736|353097|353635|362071|362152|376493|550631|620598|620599|697877|704275|704276|704278|704279|707192|715613|715614|718781|720245|727337|727338|732254|732255|733866|733867|740930|746264|774432|778382|778409|785682|863331|863332|863333|863334|863335|863336|863337|863338|863339|863340|863836|863837|863838|863839|863840|863841|863842|863843|863844|863845|863846|863847|863848|863849|863850|863851|863852|863853|863854|863855|863856|863857|863858|863859|878041|878042|878043|878044|878045|878046|878047|878048|878049|878050|878051|878052|878053|878054|878055|878056|878057|878058|878059|878060|878061|878062|878063|878064|878065|878066|878067|878068|878069|878070|878071|878072|878073|878074|878075|878076|878077|878078|878079|878080|878081|878082|878083|878084|878085|878086|878087|878088|878089|878090|878091|878092|878093|878094|878095|878096|878097|878098|878099|878100|878101|878102|878103|878104|880561|880562|880563|880564|888142|888143|888144|888145|888146|888147|888148|888149|888150|888151|888152|888153|888154|888155|888156|888157|888158|888159|888160|891587|891588|906230|906270|918592|962795|962796|962797|962798", + "text": "Renal dysplasia" + }, + { + "baseId": "28162|28164|28165|249673|278513|278514|278515|278516|278526|278527|278638|278639|278640|279780|279784|279795|279944|279945|279946|279952|432278|774432|863331|863332|863333|863334|863335|863336|863337|863338|863339|863340|962666", + "text": "Hyperuricemic nephropathy, familial juvenile, 2" + }, + { + "baseId": "28166|38823|38824|185687|185688|472236|791447", + "text": "Mirror movements 2" + }, + { + "baseId": "28167", + "text": "Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers" + }, + { + "baseId": "28168|28169|28173|28174|28175|28178|28179|28180|28187|28192|28200", + "text": "Severe combined immunodeficiency, B cell-negative" + }, + { + "baseId": "28168|28169|28170|28171|28174|28175|28176|28177|45377|45378|45379|45381|142590|408345|408346|415267|433888|481991|488103|488104|488105|488106|488107|488108|488109|488110|488111|488112|488113|488114|488115|488116|488117|488118|488119", + "text": "Recombinase activating gene 2 deficiency" + }, + { + "baseId": "28168|28169|28170|28171|28174|28175|28176|28177|45377|45378|45379|45381|142590|408345|408346|415267|433888|481991|488103|488104|488105|488106|488107|488108|488109|488110|488111|488112|488113|488114|488115|488116|488117|488118|488119|589847|589848|589849|589850|589851", + "text": "Primary immunodeficiency" + }, + { + "baseId": "28169|28172|28172|28174|28176|28176|28177|28177|28177|28185|28193|28195|28197|28198|28198|28199|28200|38822|45371|45371|45372|45373|45374|45375|45376|45377|45380|45381|79572|79572|79574|79575|79576|79581|79582|142585|142586|142587|142588|142589|142590|142590|254148|254151|269282|313990|313992|320387|320393|320401|326382|326384|326430|326434|326435|326435|327380|327381|327462|327462|327474|327480|359878|359938|359941|371408|408342|415266|425922|433888|433888|444800|461092|461100|461295|461298|461300|461304|461574|461576|461890|461904|461907|481990|488104|488105|488113|488118|488119|491899|526182|526185|526190|526194|526666|526667|526671|526676|526679|526682|564612|564613|567235|567235|567239|567241|567241|567244|567245|567249|570614|570620|570629|612909|614356|614356|614357|624428|640003|640004|640005|640006|640007|640008|640009|640010|640011|640012|640013|640014|640015|640016|640017|640018|640019|640020|640021|640022|640023|640024|640025|640026|640027|640028|687777|687778|693020|693021|701752|712815|737962|768438|768440|768442|783988|783989|783990|791133|791134|820362|838357|838358|838359|838360|838361|838362|838363|838364|838365|838366|838367|838368|838369|838370|838371|838372|838373|838374|838375|838376|838377|838378|838379|838380|838381|838382|838383|838384|838385|838386|838387|838388|838389|838390|838391|838392|838393|838394|838395|838396|838397|838398|838399|838400|838401|838402|926215|926216|926217|926218|926219|926220|926221|926222|926223|926224|926225|935514|935515|935516|935517|935518|935519|935520|935521|947432|947433|947434|947435|947436|947437|947438|947439|947440|947441|947442|947443|947444|947445|956477|956478|956479|956480|956481|956482|956483|956484|956485|956486|956487|956488|956489|956490|956491|956492|956493|964363", + "text": "Combined cellular and humoral immune defects with granulomas" + }, + { + "baseId": "28177|76319|467467|467469|467471|468332|531769|531844|531851|531892|569725|569734|571589|624272|646691|646692|646693|646694|646695|715703|727425|760655|815896|815899|815900|815902|815903|815905|815925|815943|815946|816028|816029|846193|846194|846195|846196|846197|846198|852907", + "text": "Common variable immunodeficiency" + }, + { + "baseId": "28181", + "text": "RECOMBINATION ACTIVATING GENE 1 POLYMORPHISM" + }, + { + "baseId": "28190|28192|28193|28194|79572|567235|567241|614356|614357|964364", + "text": "Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity" + }, + { + "baseId": "28203|28206|28209|28212|28218|28222|104543|104548|104554|104556|104570|104582|104585|104588|104601|104603|104611|152788|190248|270098|431694|456531|612147|623972|672067|691988|691989|699595|710519|735665|790628|800516|801389|819689|831954|831955|831956|831957|831958|831959|831960|831961|831962|831963|831964|831965|831966|831967|856459|856464|856466|933329|933330|933331|933332|933333|933334|933335|933336|933337|933338|933339|940037|940038|945031|945032|945033|945034|945035|945036|945037|954454|954455|954456|954457|954458|954459|954460|959805|959806|960584", + "text": "PRPH2-Related Disorders" + }, + { + "baseId": "28203|28204|28206|28209|28212|28218|28222|104556|104588|104593|104603|104611|190248|307578|612147|801389|831959|831960|856446|856454|856461|856464|933335|945036|962012|962018|962019|962021", + "text": "Patterned dystrophy of the retinal pigment epithelium" + }, + { + "baseId": "28204|104581", + "text": "Leber congenital amaurosis 18" + }, + { + "baseId": "28204|28208|28210|28213|28217|28218|98753|104543|104548|104554|104556|104580|104581|104592|104611|142607|142608|142609|142611|177987|252356|270098|300152|300154|300156|300157|300161|300164|300166|300167|300169|300173|302873|302878|302879|302880|302885|302916|302918|302926|302934|302935|302948|302949|302951|302953|302954|302960|302962|302963|307343|307353|307354|307355|307361|307363|307369|307552|307564|307565|307570|307575|307578|307579|307586|431694|489877|612147|614544|699595|790628|790629|790630|800517|831963|896283|896284|896285|896286|896287|896288|896289|896290|896291|896292|896293|896294|896295|896296|896297|896298|896299|896300|896301|896302|896303|896304", + "text": "Macular dystrophy, patterned, 1" + }, + { + "baseId": "28205", + "text": "Retinitis punctata albescens, autosomal dominant" + }, + { + "baseId": "28206|28209|28221|28222|98753|104543|104548|104554|104592|104611|142607|142608|142609|142611|177987|252356|270098|300152|300154|300156|300157|300161|300164|300166|300167|300169|302873|302878|302879|302880|302885|302916|302918|302926|302934|302935|302948|302949|302951|302953|302954|302960|302962|302963|307343|307353|307354|307355|307552|307564|307565|307570|307575|307579|307586|489877|699595|831963|896283|896284|896285|896286|896287|896288|896289|896290|896291|896292|896293|896294|896295|896296|896297|896298|896299|896300|896301|896302|896303|896304", + "text": "Choroidal dystrophy, central areolar 2" + }, + { + "baseId": "28207|28212|28214|28215|28216|98753|104543|104548|104554|104556|104592|104607|104611|142607|142608|142609|142611|177987|252356|270098|300152|300154|300156|300157|300161|300164|300166|300167|300169|302873|302878|302879|302880|302885|302916|302918|302926|302934|302935|302948|302949|302951|302953|302954|302960|302962|302963|307343|307353|307354|307355|307552|307564|307565|307570|307575|307579|307586|432296|489877|590281|699595|818247|831963|896283|896284|896285|896286|896287|896288|896289|896290|896291|896292|896293|896294|896295|896296|896297|896298|896299|896300|896301|896302|896303|896304|964279|980328", + "text": "Macular dystrophy, vitelliform, adult-onset" + }, + { + "baseId": "28209|28222|104558|105193|105240|105308|105488|611528|800451|800470|800478|800532|800557|800568|800616", + "text": "maculopathy" + }, + { + "baseId": "28223|28224|28225|28226|53803|53805|175340|312276|312277|312305|312306|312308|312310|318114|318136|318145|318147|318155|318159|318170|318171|318178|318181|318182|318183|318185|318186|318187|324141|324144|324148|324173|324185|324197|324198|324200|324213|324218|324223|324241|324254|324256|324263|324980|324986|324990|324994|324998|493016|620383|620384|625873|866987|866988|866989|866990|866991|866992|866993|866994|866995|866996|866997|866998|866999|867000|867001|867002|867003|867004|867005|867006|867007|867008|867009|867010|867011|867012|867013|867014|867015|867016|867017|867018|868602|868603|970560", + "text": "Deafness, autosomal recessive 24" + }, + { + "baseId": "28227|28228|135326|142351|142352|142353|142355|142356|211018|211020|291384|292522|292523|292524|292526|292528|292540|292541|295904|295906|295916|295924|295925|295935|295938|367370|500371|626138|651138|660046|709006|734258|734259|743962|781793|828531|889544|889545|889546|889547|889548|889549|889550|889551|889552|889553|891701|923335|932075|953582|966668|966669|966670|966671|966672|966673|966675|966676", + "text": "Pyruvate dehydrogenase E1-beta deficiency" + }, + { + "baseId": "28229|28230|28231|28233|28234|28235|28236|266502|445922|481324|481325|682831|682832|682842|788918|816005|961629|963177|964882|983768|983769", + "text": "Autosomal recessive cutis laxa type 2B" + }, + { + "baseId": "28236|28237|38818|38819|38820|266502|961629", + "text": "Autosomal recessive cutis laxa type 3B" + }, + { + "baseId": "28240|28241|28242|28243|28244|173534|173535|173536|173537|173673|173674|173675|196087|228968|228969|287417|287421|287423|287424|287426|287427|287428|287429|288203|288208|288217|288218|288219|290870|290871|290873|290875|290882|290885|290890|291121|291122|291126|291127|291138|291145|291148|291149|291150|291152|291153|578406|578527|584248|588015|610681|620097|708393|719985|719986|774794|885569|885570|885571|885572|885573|885574|885575|885576|885577|885578|885579|885580|885581|885582|885583|885584|885585|885586|887407|887408|961003|965621|966788", + "text": "Surfactant metabolism dysfunction, pulmonary, 1" + }, + { + "baseId": "28245|39082", + "text": "Pulmonary fibrosis, idiopathic, susceptibility to" + }, + { + "baseId": "28246|28247|28248|28249|28250|28251|28252|28253|174394|174395|174533|174534|227321|304867|304873|304874|304876|304877|304883|304888|304889|308589|308599|308600|313748|313749|313769|313772|313774|313788|313801|313802|313803|313804|313805|313806|313861|313864|313868|313869|681808|899330|899331|899332|899333|899334|899335|899336|966598", + "text": "Surfactant metabolism dysfunction, pulmonary, 2" + }, + { + "baseId": "28254|28268|28269", + "text": "Postanesthetic apnea" + }, + { + "baseId": "28254|28255|28257|28258|28259|28264|28265|28266|28267|209042|227254|227255|251000|289421|289427|289428|289430|289431|290196|290199|290202|290204|290205|290206|290219|293286|293294|293295|293302|293720|293723|293724|293725|293729|293732|293733|357302|357303|357304|357305|357306|357307|357308|357309|357310|357311|357312|357313|357314|357315|357316|357317|357318|357319|357320|357321|357322|357323|542900|542901|542903|542910|542913|542916|542918|543063|543066|543067|543072|543078|543084|543088|543089|543134|543149|543151|543153|543155|543159|543163|543166|543171|543172|543183|543189|543191|620118|620119|620120|888340|888341|888342|888343|888344|888345|888346|888347|888348|888349|888350|888351|888352|888353|888354|888355|888356|888357|891615", + "text": "Deficiency of butyrylcholine esterase" + }, + { + "baseId": "28256", + "text": "Bche, h variant" + }, + { + "baseId": "28257", + "text": "BCHE, flouride 1" + }, + { + "baseId": "28258", + "text": "BCHE, fluoride 2" + }, + { + "baseId": "28259", + "text": "Butyrylcholinesterase activity" + }, + { + "baseId": "28260", + "text": "Bche, j variant" + }, + { + "baseId": "28261", + "text": "BCHE Newfoundland" + }, + { + "baseId": "28262", + "text": "BCHE Cynthiana" + }, + { + "baseId": "28263", + "text": "BCHE Johannesburg" + }, + { + "baseId": "28265", + "text": "Butyrylcholinesterase deficiency, fluoride-resistant, japanese type" + }, + { + "baseId": "28270|28271|188064|188065|255889|466018|466721|466723|467002|467005|530361|530563|530778|570496|645006|652665|693934|791647|820885|844360|919679|927962|949589|949590", + "text": "Cataract 21, multiple types" + }, + { + "baseId": "28272|28273|28274|28275|28276|136382|136383|136384|136385|136386|136387|255217|255218|255219|255220|255221|255222|255223|255224|255226|255227|322539|322543|322545|331908|331923|331931|331941|331943|331947|331952|338926|338928|338936|338942|338943|340540|340541|340543|340547|340548|340550|340555|620513|797135|799797|799798|799799|799800|873526|873527|873528|873529|873530|873531|873532|873533|876509|876510|876511", + "text": "Spherocytosis type 5" + }, + { + "baseId": "28277|28278|28279|28280|28281|28282|99979|99980|99981|99983|172094|172095|172096|178062|181391|194447|226998|227011|256760|256762|256763|256764|256765|267798|298565|298577|298596|298597|298614|298615|298622|298628|298633|298636|298637|300894|300937|300956|300960|300967|300990|300997|301001|301005|301009|301016|301025|301027|301033|301036|301038|305288|305322|305349|305358|305398|305401|305404|305437|305479|305500|305509|305549|305550|305584|332518|332520|332524|332526|332527|332534|332541|342734|342735|342737|342738|342739|342741|342746|342750|342752|342754|342757|342759|342762|342764|344622|344626|344630|348088|348092|348094|348099|348100|348101|348104|348105|348109|348110|348113|349359|349360|349363|349364|350622|350625|353740|360973|427500|485920|512818|513954|514058|620904|756701|879886|879887|879888|879889|879890|879891|879892|879893|879894|879895|879896|879897|879898|879899|879900|879901|879902|879903|879904|879905|879906|880691|880692|971112|980385|980386", + "text": "Polycystic liver disease 1" + }, + { + "baseId": "28283|28284|28285|28286|28287|28288|28289|28290|28291|38812|38813|51295|51298|51306|51311|51314|51323|51327|51329|51330|51331|51332|51333|51335|51336|51337|51340|135482|135483|191541|208622|334232|334239|334241|344149|344151|344157|344158|344161|344162|344164|344168|344169|344176|344177|344179|344183|344185|349341|349346|349348|350342|350343|350346|350347|350350|350351|350355|350358|430264|442255|508930|508931|608915|791950|791951|791952|860608|882447|882448|882449|882450|882451|882452|882453|882454|882455|882456|882457|882458|882924|882925|882926|882927|882928|915095|915096|915097|915098|920545|966400", + "text": "Spinocerebellar ataxia type 14" + }, + { + "baseId": "28292|28294|28295|28296|47515|49461|141642|141643|141644|287750|287756|287757|287763|287765|287773|287775|287779|288441|288443|288444|288445|291317|291327|291332|291333|291334|291336|291473|291479|291480|291481|291483|367104|451516|451793|451991|451991|559213|624252|630656|630661|691240|691241|720016|850925|885745|885746|885747|885748|885749|885750|885751|885752|885753|885754|885755|887417|887418|887419|887420", + "text": "Combined immunodeficiency due to ZAP70 deficiency" + }, + { + "baseId": "28297|28298|28299|28300|28301|249476|249477|249478|249479|249481|249482|249483|249484|249485|249486|249487|249488|263955|276914|276927|276930|276931|276947|276959|276960|276963|276964|276966|276968|276974|276979|276980|277020|277027|277032|277196|277202|277204|277205|277208|277209|277210|277223|277226|277228|277229|277287|277289|277290|277298|277300|277900|277903|277905|277915|277927|277945|277946|278002|278003|278004|278005|278009|278011|278012|278019|278031|278032|278033|278035|278037|278052|278055|278102|278104|278110|278111|278114|447339|447343|447375|515257|515278|515288|515344|556733|619959|622306|626100|627020|627039|627055|650555|650685|685583|718330|729934|822930|822963|862589|862590|862591|862592|862593|862594|862605|862606|862607|862608|862609|862610|862611|862612|862613|862614|862615|862631|862632|862633|862634|862635|862636|862637|862638|862639|865020|921727|941553", + "text": "Cataract 6, multiple types" + }, + { + "baseId": "28301", + "text": "Cataract 6, age-related cortical" + }, + { + "baseId": "28301", + "text": "Cortical senile cataract" + }, + { + "baseId": "28302|28303|28304|28305|28306|28307|28308|28309|28310|28314|28315|28321|28322|28323|28328|28329|28334|28338|28338|38808|138125|138127|138129|138131|139286|193378|193379|253699|253700|253704|253706|259933|268579|268591|309577|309579|309582|309583|309584|309585|309587|309588|309600|309606|309607|309608|314366|314367|314377|314378|314379|314389|314395|314396|314414|314416|314418|314419|314420|314421|314431|320436|320439|320440|320447|320448|320459|320461|320462|320467|320469|320470|320865|320874|320875|320877|320883|320884|320908|320909|320916|320920|320934|320936|320937|320942|320947|361709|361711|361713|361714|361715|361717|361718|361719|361721|406667|503156|539974|563601|569547|701223|737381|865489|865490|865491|865492|865493|865494|865495|865496|865497|865498|865499|865500|865501|865502|865503|865504|865505|865506|865507|865508|865509|865510|865511|865512|865513|865514|868451|868452|868453|969285", + "text": "Crouzon syndrome" + }, + { + "baseId": "28302|28305|28306|28313|28315|28320|28325|28327|28329|28330|28331|28332|28333|28338|28338|28339|31318|31318|191949|192053|193672|193673|193674|248739|259933|305216|308951|308989|308993|308994|309577|314200|314213|314217|314378|314379|320877|320916|320937|361706|361707|361712|361716|361720|371850|425793|458465|458466|458898|458901|493549|513216|523562|523565|523567|524155|562414|562416|637202|651969|684009|687290|689920|819961|834738|834739|851694|925198|925199|925200|934303|934304|946062|946063", + "text": "Pfeiffer syndrome" + }, + { + "baseId": "28302|28303|28304|28305|28306|28307|28309|28310|28311|28312|28313|28314|28315|28316|28322|28325|28329|28330|28332|138125|138127|138129|138131|193378|193379|253700|253706|259933|265819|268579|268591|314395|314396|320884|361710|361711|361716|361721|444565|444566|459906|459911|459913|460155|460158|460619|491711|503164|524995|525006|525008|525009|525525|563599|563601|566187|566190|566194|569547|638760|638761|652256|692793|759899|818138|836683|836684|836685|836686|925760|959929", + "text": "FGFR2 related craniosynostosis" + }, + { + "baseId": "28302|28305|28306|28312|28325|919259|919260", + "text": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis" + }, + { + "baseId": "28305|28306|28308|28315|31318|309577|314378|314379|320877|320916|320937|361710|361711", + "text": "Jackson-Weiss syndrome" + }, + { + "baseId": "28307", + "text": "Craniosynostosis, nonclassifiable autosomal dominant" + }, + { + "baseId": "28307", + "text": "Scaphocephaly and axenfeld-rieger anomaly" + }, + { + "baseId": "28307|28333|31366|31367|31368|31371|31376|31377|31378|31379|31381|31386|31387|31394|76470|76763|138125|138127|138129|138131|138137|138138|138143|138147|138148|138149|139286|191137|191949|192053|193378|193379|193380|193381|193672|193674|194790|194791|195205|207114|209687|224372|251372|251373|251380|251381|251385|251388|251392|251393|251394|251397|253699|253700|253704|253706|268579|268591|271219|271513|272118|296994|298886|305196|305197|305206|305210|305211|305213|305216|305217|305227|305229|308949|308950|308951|308954|308955|308965|308966|308967|308968|308969|308987|308988|308989|308990|308991|308992|308993|308994|308995|309017|309019|309020|309577|309579|309582|309583|309584|309585|309587|309588|309600|309606|309607|309608|314169|314172|314173|314175|314176|314177|314180|314181|314182|314183|314185|314186|314189|314193|314194|314195|314196|314199|314200|314201|314204|314205|314206|314207|314209|314210|314212|314213|314217|314219|314220|314222|314223|314228|314231|314237|314238|314366|314367|314377|314378|314379|314389|314395|314396|314414|314416|314418|314419|314420|314421|314431|320436|320439|320440|320447|320448|320459|320461|320462|320467|320469|320470|320865|320874|320875|320877|320883|320884|320908|320909|320916|320920|320934|320936|320937|320942|320947|359618|360913|360914|363628|363629|369068|370233|371850|389089|389090|389091|428292|453055|453061|453062|453066|453069|453353|453434|453444|453446|453448|453833|453835|453843|488869|501129|503156|513216|519821|519822|519828|519844|519848|520148|523886|559637|559792|559794|559796|563605|569547|577061|632094|632095|632096|679248|679250|679251|679252|679253|679658|679659|679660|679661|679663|679664|679665|679666|679667|679668|679671|687284|687287|689918|691532|691533|695221|695222|695223|698441|701223|709242|709244|720842|720846|737381|748819|748823|764389|764391|787369|828965|828966|828967|828968|828969|865489|865490|865491|865492|865493|865494|865495|865496|865497|865498|865499|865500|865501|865502|865503|865504|865505|865506|865507|865508|865509|865510|865511|865512|865513|865514|868451|868452|868453|899458|899459|899460|899461|899462|899463|899464|899465|899466|899467|899468|899469|899470|899471|899472|899473|899474|899475|899476|899477|899478|899479|899480|899481|899482|899483|899484|899485|899486|899487|899488|899489|899490|899491|899492|899493|899494|899495|899496|899497|899498|899499|899500|899501|899502|899503|899504|899505|899506|899507|899508|899509|899510|899511|899512|900485|900486|900487|923468|923469|943907", + "text": "Craniosynostosis syndrome" + }, + { + "baseId": "28311|28312|28318|28326|28338|70518|309577|314378|314379|320877|320916|320937|818138", + "text": "Acrocephalosyndactyly type I" + }, + { + "baseId": "28311|29022|361707|361709|363031|363032|363033|363034|363035|363036|363037|363038|363039|363040|363041|363042|363043|363044", + "text": "Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation" + }, + { + "baseId": "28311", + "text": "Acrocephalosyndactyly" + }, + { + "baseId": "28311|28316|28317|32616|363107|363109|363194|363195|363196|363235|363312|363604|363605|363606", + "text": "Endometrial neoplasm" + }, + { + "baseId": "28312|151858|362775|362960|363090|363091", + "text": "Head and Neck Neoplasms" + }, + { + "baseId": "28316|28317|38807|138125|138127|138129|138131|139286|193378|193379|253699|253700|253704|253706|268579|268591|309577|309579|309582|309583|309584|309585|309587|309588|309600|309606|309607|309608|314366|314367|314377|314378|314379|314389|314395|314396|314414|314416|314418|314419|314420|314421|314431|320436|320439|320440|320447|320448|320459|320461|320462|320467|320469|320470|320865|320874|320875|320877|320883|320884|320908|320909|320916|320920|320934|320936|320937|320942|320947|503156|569547|701223|737381|865489|865490|865491|865492|865493|865494|865495|865496|865497|865498|865499|865500|865501|865502|865503|865504|865505|865506|865507|865508|865509|865510|865511|865512|865513|865514|868451|868452|868453", + "text": "Beare-Stevenson cutis gyrata syndrome" + }, + { + "baseId": "28319", + "text": "Pfeiffer syndrome variant" + }, + { + "baseId": "28325", + "text": "Pfeiffer syndrome, type III" + }, + { + "baseId": "28328", + "text": "Craniosynostosis, nonsyndromic unicoronal" + }, + { + "baseId": "28332", + "text": "Craniofacial-skeletal-dermatologic dysplasia" + }, + { + "baseId": "28334", + "text": "Scaphocephaly, maxillary retrusion, and mental retardation" + }, + { + "baseId": "28341", + "text": "PROTHROMBIN TYPE 3" + }, + { + "baseId": "28341|28348|28349|38806|254180|254181|254182|254183|254184|254185|314178|314179|314187|314188|314190|314191|320729|320749|320751|320758|320767|320768|326803|326804|326811|327768|327769|327773|712845|724459|752685|768463|868030|868031|868032|868033|868034|868035|868650|868651|868652", + "text": "Prothrombin deficiency, congenital" + }, + { + "baseId": "28342|28343|28344|28345|28346|28349|28350|28351|28352|28353|327765", + "text": "Hereditary factor II deficiency disease" + }, + { + "baseId": "28347", + "text": "DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II" + }, + { + "baseId": "28349", + "text": "Pregnancy loss, recurrent, susceptibility to, 2" + }, + { + "baseId": "28349", + "text": "Venous thromboembolism" + }, + { + "baseId": "28355", + "text": "Protein S Heerlen" + }, + { + "baseId": "28355|28357|38801|38802|38803|38804|171086|171089|171093|171096|212337|212338|212339|212340|212341|221425|221426|251293|291738|293097|293103|293105|296397|393153|393805|393807|439356|451897|453148|453197|453200|453563|495151|519613|519665|559528|559529|559531|559533|559684|559686|561822|615353|631800|631801|631802|651145|683599|683600|686466|759373|819422|819423|828582|828583|828584|828585|828586|828587|851095|851096|851473|851475|858404|923363|923364|932088|932089|932090|940766|943706|943707|943708|953596|959708", + "text": "Thrombophilia due to protein S deficiency, autosomal recessive" + }, + { + "baseId": "28355|28356|28357|28358|28359|28360|28361|28362|38801|171085|171086|171087|171088|171089|171090|171091|171092|171093|171094|171095|171096|172172|212341|221425|251293|291735|291737|291738|291740|291741|291748|291749|293081|293083|293085|293086|293087|293090|293091|293097|293103|293104|293105|293109|296350|296359|296371|296372|296373|296375|296376|296379|296385|296391|296395|296396|296397|296399|296401|296406|296407|519665|683599|790423|800394|889754|889755|889756|889757|889758|889759|889760|889761|889762|889763|889764|889765|889766|889767|889768|889769|889770|889771|889772|889773|889774|889775|889776|889777|889778|889779|889780|889781|889782|891711|891712|891713|970779", + "text": "Thrombophilia due to protein S deficiency, autosomal dominant" + }, + { + "baseId": "28362|171093|171096|212340|212341|293105|495151|559686|615349|615350|615351|615352|615353|615354|615355|615356|615357|615358|615359|615360|615362|615363|615364|615365|615366|615367|615368|615370|615372|615373|615722|615866|801511", + "text": "Reduced protein S activity" + }, + { + "baseId": "28363|28363|28364|28365|28365|28365|28365|28366|28366|28366|28367|28367|28368|28369|28370|28370|28372|28372|28373|28379|28381|28382|28383|28384|45369|45370|48957|48959|48965|48972|48983|48986|48992|48994|48997|48998|49006|49010|49012|49023|49024|49028|49029|49031|49032|49032|49033|49036|49040|53765|53766|53775|70453|76574|138851|142546|142548|175395|175398|230259|316040|316041|316046|316051|316057|316064|316065|323294|323298|323300|323304|323305|323306|323307|329404|329406|329458|329467|329470|329471|329472|329473|329475|329476|329477|329478|329485|329521|330584|330589|330590|330591|330595|330611|330625|330626|330628|330630|330634|429364|481135|481136|481137|487580|582588|869289|869290|869291|869292|869293|869294|869295|869296|869297|869298|869299|869300|869301|869302|869303|869304|869305|869306|869307|869308|869309|869310|869311|869312|869313|869314|869315|869316|869317|919411|920310|964372", + "text": "LEOPARD syndrome 1" + }, + { + "baseId": "28363|28364|28365|28365|28366|28367|28368|28370|28372|28372|28373|28379|28386|28387|28388|40225|40226|40227|40228|40229|40230|40231|40232|40233|45369|45370|48957|48959|48972|48983|48984|48986|48992|48994|48997|48998|49006|49010|49012|49028|49029|49032|49032|49040|49040|53765|53766|53766|53775|53778|138851|142546|142548|175395|175398|316040|316041|316045|316046|316051|316054|316057|316064|316065|323294|323298|323300|323301|323302|323303|323304|323305|323306|323307|329404|329406|329407|329458|329467|329470|329471|329472|329473|329475|329476|329477|329478|329485|329521|330584|330589|330590|330591|330595|330605|330607|330611|330625|330626|330628|330630|330634|429364|481135|481136|481137|487580|582588|791197|818296|869289|869290|869291|869292|869293|869294|869295|869296|869297|869298|869299|869300|869301|869302|869303|869304|869305|869306|869307|869308|869309|869310|869311|869312|869313|869314|869315|869316|869317|969669", + "text": "Metachondromatosis" + }, + { + "baseId": "28366|48993", + "text": "PTPN11 Related Disorders" + }, + { + "baseId": "28367|28367|28370|28381|28382|28383|28383|28996|28996|28999|28999|34193|34194|38762|48818|48988|48995|49016|49023|49024|49033|49036|49043|49288|53792|53987|53988|173750|179051|289310|292323|301998|302001|309875|310013|316045|316054|323301|323302|323303|329407|330605|330607|497522|653974", + "text": "Noonan syndrome with multiple lentigines" + }, + { + "baseId": "28367|28846|28847|28848|28849|48871|48878|48882|48888|48889|48891|48894|48897|54364|54365|54368|54369|54370|54372|54375|54376|54378|70452|125841|125841|125842|137546|137547|137551|137552|140366|140367|140368|175068|175346|179156|179160|179163|179164|264601|312586|312604|312607|312608|312610|312611|312612|312616|312618|312620|312629|312630|312637|312639|312650|312655|312660|312663|312664|312665|312672|312681|312685|312688|312696|312697|312698|312705|312719|312728|312732|312733|312734|312738|312740|312741|312742|318571|318577|318588|318589|318593|318601|318603|318608|318609|318625|318626|318644|318648|318664|318686|318688|318699|318705|318706|318711|318712|318713|318718|318722|318724|318726|318729|318734|318735|318739|324722|324734|324736|324737|324739|324753|324763|324766|324771|324782|324784|324786|324789|324790|324794|324795|324800|324801|324805|324806|324808|324816|324817|324822|324824|324826|324828|324830|324831|325444|325446|325448|325477|325479|325481|325482|325483|325490|325508|325515|325527|325533|325535|325542|325546|325564|325571|325572|325573|325575|325576|325577|325581|325583|325586|325600|325614|325619|325630|325637|325655|325656|325659|325668|325692|325694|325696|361723|361724|361725|460920|460955|481134|494968|504109|514315|526034|538420|552646|567080|677434|680062|867135|867136|867137|867138|867139|867140|867141|867142|867143|867144|867145|867146|867147|867148|867149|867150|867151|867152|867153|867154|867155|867156|867157|867158|867159|867160|867161|867162|867163|867164|867165|867166|867167|867168|867169|867170|867171|867172|867173|867174|867175|867176|867177|867178|867179|867180|867181|867182|867183|867184|867185|867186|867187|867188|867189|867190|867191|867192|867193|867194|867195|867196|867197|867198|867199|919324|919325|919326|919327|964107", + "text": "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia" + }, + { + "baseId": "28370|48992", + "text": "PTPN11-related disorder" + }, + { + "baseId": "28372|152318", + "text": "B lymphoblastic leukemia lymphoma, no ICD-O subtype" + }, + { + "baseId": "28374|204572|204573|204574", + "text": "Early T cell progenitor acute lymphoblastic leukemia" + }, + { + "baseId": "28375|28377|28378|133499|152038|166215|226759|226760|362770|362772|363307|363308|363309|363314|427762|488237|495045|495046|495913|513987", + "text": "Astrocytoma" + }, + { + "baseId": "28375|29000|965412|965413", + "text": "Cancer" + }, + { + "baseId": "28389|28390|28390|28391|49212|49213|49251|188202|230599|264875|264875|362860|569565|624057|822305|857582", + "text": "Cardiofaciocutaneous syndrome 3" + }, + { + "baseId": "28390", + "text": "Melorheostosis" + }, + { + "baseId": "28392|28393|28394|28395|28396|28397|28398|206996|285610|285611|285622|285624|285631|286339|286340|288641|288642|289041|289047|289053|428043|443218|485896|654118|654119|719787|719788|884457|884458|884459|884460|884461|884462|884463|884464|884465|884466", + "text": "Proopiomelanocortin deficiency" + }, + { + "baseId": "28395", + "text": "Obesity, early-onset, susceptibility to" + }, + { + "baseId": "28400|28401|28402|28405|28406|28413|28414|99987|253829|253830|253834|253835|253836|267598|310748|310749|310750|310752|310754|310757|310768|310771|310773|310774|310779|310781|310792|310793|310803|310804|316048|316049|316050|316052|316053|316055|316058|316059|316062|322105|322106|322113|322114|322116|322118|322124|322126|322147|322152|322727|322728|322729|322732|322761|322766|322775|322777|322778|322779|407907|432427|437863|437864|438867|553410|553411|563935|566479|639143|639144|712458|712459|712460|724053|724054|730706|737588|737589|737590|737591|752247|752248|752249|752250|752251|752252|752253|752254|767959|767960|767962|767963|767964|767965|767970|775547|775552|783729|783733|783735|783736|787867|802173|820239|822047|837276|837277|866168|866169|866170|866171|866172|866173|866174|866175|866176|866177|866178|866179|866180|866181|866182|868499|935168|956199|960728", + "text": "Sphingolipid activator protein 1 deficiency" + }, + { + "baseId": "28402|28404|28407|28412|55236|55237|55239|55244|55245|55246|55247|99987|137043|175007|175287|175289|253829|253830|253834|253835|253836|310742|310745|310748|310749|310750|310752|310754|310757|310768|310771|310773|310774|310779|310781|310792|310793|310803|310804|310806|310808|310811|316006|316010|316044|316047|316048|316049|316050|316052|316053|316055|316058|316059|316062|316063|322088|322102|322105|322106|322108|322109|322113|322114|322116|322118|322124|322126|322147|322152|322165|322166|322713|322714|322725|322726|322727|322728|322729|322732|322738|322761|322766|322775|322776|322777|322778|322779|353137|353139|353147|353148|353153|432427|767962|866168|866169|866170|866171|866172|866173|866174|866175|866176|866177|866178|866179|866180|866181|866182|868499", + "text": "Combined saposin deficiency" + }, + { + "baseId": "28403|28404|28409|28410|28411|99987|253829|253830|253834|253835|253836|310748|310749|310750|310752|310754|310757|310768|310771|310773|310774|310779|310781|310792|310793|310803|310804|316048|316049|316050|316052|316053|316055|316058|316059|316062|322105|322106|322113|322114|322116|322118|322124|322126|322147|322152|322727|322728|322729|322732|322761|322766|322775|322777|322778|322779|432427|767962|866168|866169|866170|866171|866172|866173|866174|866175|866176|866177|866178|866179|866180|866181|866182|868499", + "text": "Gaucher disease, atypical, due to saposin C deficiency" + }, + { + "baseId": "28408|99987|253829|253830|253834|253835|253836|310748|310749|310750|310752|310754|310757|310768|310771|310773|310774|310779|310781|310792|310793|310803|310804|316048|316049|316050|316052|316053|316055|316058|316059|316062|322105|322106|322113|322114|322116|322118|322124|322126|322147|322152|322727|322728|322729|322732|322761|322766|322775|322777|322778|322779|432427|767962|866168|866169|866170|866171|866172|866173|866174|866175|866176|866177|866178|866179|866180|866181|866182|868499", + "text": "Krabbe disease, atypical, due to saposin A deficiency" + }, + { + "baseId": "28415", + "text": "Skeletal defects, genital hypoplasia, and mental retardation" + }, + { + "baseId": "28416|28417|28418|28419|28420|28421|28422", + "text": "Hyperproinsulinemia" + }, + { + "baseId": "28426|28427|28428|33966|33969|33974|263780", + "text": "Permanent neonatal diabetes mellitus 4" + }, + { + "baseId": "28429|28430|45062|79619|134725|247779|254105|254106|313620|313624|319803|319804|319810|319823|319825|319828|325998|326977|326978|609052|737916|867734|868641|919349", + "text": "Maturity-onset diabetes of the young, type 10" + }, + { + "baseId": "28431|33974", + "text": "Diabetes mellitus, insulin-dependent, 2" + }, + { + "baseId": "28433|28436|28437|28442|28444|28445|28450|94480", + "text": "Jakob-Creutzfeldt disease" + }, + { + "baseId": "28433|28434|28435|28440|28441|28443|28449|28451|28453|28454|94479|94484", + "text": "Gerstmann-Straussler-Scheinker syndrome" + }, + { + "baseId": "28433|28434|28436|28437|28438|28440|28442|28444|28445|28447|28448|76402|215591|335703|345428|345429|345431|345433|351099|351103|534134|573567|705521|705522|848464", + "text": "Huntington disease-like 1" + }, + { + "baseId": "28433|28434|28435|28436|28437|28438|28440|28441|28442|28443|28444|28445|28446|28447|28448|28450|28451|28452|28454|33999|34000|76402|215591|335689|335690|335703|335704|335706|335707|345414|345418|345420|345422|345428|345429|345431|345433|345446|345448|345450|345451|345453|345455|350066|350068|350069|350070|350073|350074|350075|350076|351099|351103|351107|351108|351109|351110|351113|351114|351116|351117|886222|886223|886224|886225|886226|886227|886228|886229|886230|886231|886232", + "text": "Genetic prion disease" + }, + { + "baseId": "28436", + "text": "Prion disease, susceptibility to" + }, + { + "baseId": "28436", + "text": "Alzheimer disease, early-onset, susceptibility to" + }, + { + "baseId": "28436", + "text": "Aphasia, primary progressive, susceptibility to" + }, + { + "baseId": "28437", + "text": "Fatal familial insomnia" + }, + { + "baseId": "28446|28447|28451|28452|446895|446896", + "text": "Spongiform encephalopathy with neuropsychiatric features" + }, + { + "baseId": "28448", + "text": "Protection against Creutzfeldt-Jakob disease" + }, + { + "baseId": "28455", + "text": "Kuru, protection against" + }, + { + "baseId": "28456|28465|28470|28492|28493|179808", + "text": "Dystransthyretinemic euthyroidal hyperthyroxinemia" + }, + { + "baseId": "28456|28465|28492|179808|245092", + "text": "Carpal tunnel syndrome" + }, + { + "baseId": "28464|28491", + "text": "TRANSTHYRETIN POLYMORPHISM" + }, + { + "baseId": "28465", + "text": "Amyloid Cardiomyopathy, Transthyretin-related" + }, + { + "baseId": "28465|378413|615637", + "text": "Pancytopenia" + }, + { + "baseId": "28465|226418|378413|590067|590098|966329|966331", + "text": "Bone marrow hypocellularity" + }, + { + "baseId": "28465|30100|30200|30372|30694|360899|378413|513937|800975|800982|801226|801230|801247|857396", + "text": "Anemia" + }, + { + "baseId": "28465", + "text": "ATTRV122I amyloidosis" + }, + { + "baseId": "28465", + "text": "Postural tremor" + }, + { + "baseId": "28466|33195|40479|53708|54876|55760|55779|56325|56349|56354|56601|101339|172615|189264|265307|460115|488925|509961|520740|679409", + "text": "Heart failure" + }, + { + "baseId": "28473", + "text": "AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF" + }, + { + "baseId": "28488", + "text": "Carpal tunnel syndrome, familial" + }, + { + "baseId": "28500|28501|28502|28504|28505|28506", + "text": "AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED" + }, + { + "baseId": "28508|28509|28510|28511|132634|132635|189345|189346|189348|189349|189350|189351|189352|189353|189354|189356|189357|254607|317548|317549|317551|317552|317562|325380|325381|325387|331616|331621|331622|331625|333126|333129|333133|333135|360948|462262|462270|462276|462280|462286|462292|462511|462519|462525|462528|462538|462540|462542|462545|463008|463016|463140|463145|463149|463153|463156|463158|463166|463167|514020|527200|527207|527208|527210|527211|527216|527217|527454|527456|527460|527461|527756|527767|565534|565541|566861|566866|566871|566872|566879|568088|568090|571881|587516|641186|641187|641188|641189|641190|641191|641192|641193|641194|641195|684330|688004|688005|688006|688007|688011|688012|725141|738695|738696|769179|769180|840004|840005|840006|840007|840008|840009|840010|840011|840012|840013|840014|840015|840016|840017|840018|840019|840020|840021|870021|870022|870023|870024|870025|870026|870027|870028|870029|870030|870031|870032|870033|870034|919448|919449|926657|926658|926659|936148|936149|948059|948060|948061|948062|948063|948064|948065|956896|956897", + "text": "Atrial fibrillation, familial, 7" + }, + { + "baseId": "28512|28513|190461|205316|245205|272412|272421|442245|512879|512880|513379|577817|791944|791945|964525", + "text": "Spinocerebellar ataxia type 13" + }, + { + "baseId": "28514|28515|28516|28518|136399|136421|136425|136427|136431|176235|176358|231116|336618|336619|336622|336628|336632|336636|336638|336641|336648|336656|336659|336663|336668|336670|336674|346327|346329|346330|346335|346336|346337|346339|346340|346343|346344|346347|346349|346350|346351|346352|346354|350566|350568|350569|350571|350572|350574|350575|350577|350578|350583|350586|350589|350592|350593|351609|351612|351613|351616|351619|351620|351623|351628|351636|351637|351639|351640|351644|351645|351647|351648|351650|497529|507490|537651|537652|537653|848735|886695|886696|886697|886698|886699|886700|886701|886702|886703|886704|886705|886706|886707|886708|886709|886710|886711|886712|886713|886714|886715", + "text": "Jervell and Lange-Nielsen syndrome 2" + }, + { + "baseId": "28516|28517|28518|136399|136418|136421|136424|136426|136427|176235|176358|231116|336618|336619|336622|336628|336632|336636|336638|336641|336648|336656|336659|336663|336668|336670|336674|346327|346329|346330|346335|346336|346337|346339|346340|346343|346344|346347|346349|346350|346351|346352|346354|350566|350568|350569|350571|350572|350574|350575|350577|350578|350583|350586|350589|350592|350593|351609|351612|351613|351616|351619|351620|351623|351628|351636|351637|351639|351640|351644|351645|351647|351648|351650|497529|507490|589845|680057|848735|886695|886696|886697|886698|886699|886700|886701|886702|886703|886704|886705|886706|886707|886708|886709|886710|886711|886712|886713|886714|886715", + "text": "Long QT syndrome 5" + }, + { + "baseId": "28516|51661|67638|67718|67740|77926|141708|187117|197424|313787|313794|313799|313800|313812|313813|313817|319980|319984|319986|319987|319988|320021|320022|320025|326169|326170|326178|326190|326206|326214|327120|327127|327130|336624|336627|336647|346356|350579|350595|350597|351633|351642|353590", + "text": "Jervell and Lange-Nielsen syndrome" + }, + { + "baseId": "28518", + "text": "Long QT syndrome 5, acquired, susceptibility to" + }, + { + "baseId": "28518|29479", + "text": "Long QT syndrome 2/5" + }, + { + "baseId": "28519|28520|28521|28522|28523|28524|28525|28526|28527|28530|28531|33979|33980|33982|134759|192204|192205|192206|192207|274919|317386|317387|317395|317398|317401|317404|317407|317412|317415|317416|317418|317428|317433|317435|317451|317452|317456|317458|317463|317465|317470|325231|325232|325236|325238|325240|325255|325260|325265|325267|325271|325273|325279|325285|325287|325288|325294|325295|325296|325316|325326|331460|331461|331463|331468|331474|331475|331487|331488|331489|331495|331500|331501|331511|331539|331540|331542|331561|331563|331564|331565|331579|331582|331598|331600|332852|332867|332877|332887|332891|332895|332906|332918|332919|332921|332922|332923|332925|332931|332944|332947|332950|332955|332959|332969|332977|332979|332986|332996|332998|333005|333012|333013|333026|333027|333033|361311|424900|441551|441552|441553|445033|462249|462252|462258|462259|462503|462504|462507|527204|565532|566859|571880|577273|577277|641181|641182|641183|641184|641185|693223|702340|702342|713555|738681|820504|839993|839994|839995|839996|839997|839998|839999|869931|869932|869933|869934|869935|869936|869937|869938|869939|869940|869941|869942|869943|869944|869945|869946|869947|869948|869949|869950|869951|869952|869953|869954|869955|869956|869957|869958|869959|869960|869961|869962|869963|869964|869965|869966|869967|869968|869969|869970|869971|869972|869973|869974|869975|869976|869977|869978|869979|926653|926654|926655|926656|936146|936147|948051|948052|948053|948054|948055|948056|948057|956894|956895", + "text": "Episodic ataxia type 1" + }, + { + "baseId": "28528|28529|28532", + "text": "Myokymia 1" + }, + { + "baseId": "28533", + "text": "Myokymia 1 with hypomagnesemia" + }, + { + "baseId": "28534|28535|28541|28541|28547|28548|28552|28553|76573|142453|142463|190806|193515|202922|202990|203013|203030|203044|203050|242144|445459|539063|576169|610742|614404|677036|682353|682358", + "text": "Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1" + }, + { + "baseId": "28535|28536|28537|28541|28541|28542|28544|28551|28552|28552|76573|142453|142463|190806|193515|202922|202990|203013|203028|203030|203050|242144|264639|576169|614404|972490", + "text": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1" + }, + { + "baseId": "28535|28546|28549", + "text": "Myoclonic epilepsy myopathy sensory ataxia" + }, + { + "baseId": "28535|28540|28541|28542|28546|28548|28552|34162|34163|34164|34168|34170|34172|76573|135435|135436|135437|135438|135439|135440|135443|135445|142446|142447|142448|142449|142450|142451|142453|142455|142456|142457|142458|142459|142463|142469|142472|142475|142478|142479|142480|142482|177972|191896|192343|192648|193515|195312|202902|202928|202938|202940|202951|202955|202973|202975|202976|202978|202990|202996|203006|203013|203019|203024|203034|203036|203045|203048|203069|255389|264890|323491|323492|323499|323502|323507|323510|323514|323515|323523|323524|333243|333247|333252|333256|333262|333263|333274|340022|340026|340029|340031|340032|340034|340038|340039|341436|341440|341442|341443|341446|341447|341448|341451|341453|341454|373804|376794|400903|409375|445463|529683|569200|584698|610721|610779|610783|874251|874252|874253|874255|874256|874257|874258|874259|874260|874261|874262|874263|874264|874265|874266|874267", + "text": "POLG-Related Spectrum Disorders" + }, + { + "baseId": "28535", + "text": "POLG- Related Disorders" + }, + { + "baseId": "28535", + "text": "POLG-related condition" + }, + { + "baseId": "28535|193515|202940|376748|426135|441759|610770", + "text": "POLG-related disorders" + }, + { + "baseId": "28541", + "text": "POLG- Related Disorder" + }, + { + "baseId": "28554", + "text": "Abnormality of corpus callosum" + }, + { + "baseId": "28556|28557|28558|28559|28560|28561|28562|28563|28564|48615|48616|98699|98702|98703|98705|190244|221477|221478|221479|221480|239510|251600|251601|251602|251603|251605|263858|264213|271631|273640|294560|294561|294562|294569|294581|294583|294584|294585|294592|294595|294603|294609|294611|294615|294623|294627|296105|296114|296117|296118|296119|296121|296123|296124|296126|296129|296131|296134|299796|299806|299826|299827|299828|299834|299837|299842|299843|299884|299885|299886|299887|299891|299898|299902|299905|299907|360862|384403|384480|390696|394265|424508|424583|427228|432293|432993|432994|432996|432998|440852|440855|440858|443643|453845|454040|513057|513058|513954|514499|520284|520287|520555|520561|550230|553432|553480|590274|590275|590276|609555|609560|613481|622101|623279|623280|623281|624283|624285|624290|625831|672059|683647|790487|793065|799373|799374|799375|799376|799377|799378|799379|799380|799381|799382|799383|799384|799385|799386|799387|815963|815964|818235|818236|861458|861459|861460|861461|861462|861463|861464|861465|861466|861467|892469|892470|892471|892472|892473|892474|892475|892476|892477|892478|892479|892480|892481|892482|892483|892484|892485|892486|892487|892488|892489|892490|892491|892492|892493|892494|892495|892496|892497|892498|892499|892500|892501|892502|892503|892504|892505|892506|918906|918907|918908|918909|918910|918911|960998|960999|962704|962705|962832|963392|980322|980918", + "text": "Polycystic kidney disease 2" + }, + { + "baseId": "28557|28561|98699|98702|98703|98705|190113|190244|221476|221477|221478|221479|221480|226951|239510|251600|251601|251603|251605|255505|255507|255510|255511|255512|255514|255515|255518|255532|255533|255535|255541|255545|255546|255547|255548|255550|255553|255558|255563|255566|255570|255571|255575|255578|255582|255585|255589|255592|255596|255604|255611|255613|255616|255617|255621|255623|255631|255634|255635|255637|255640|255642|255645|255647|255648|255655|255662|255668|271631|273640|294581|294594|294621|296114|296119|299840|299898|299900|299908|360989|394265|424508|427226|427228|427445|427499|427508|427512|432293|432996|433156|433157|433161|433175|433181|433187|433188|433189|433190|433193|433214|433221|433223|440850|440852|440858|441850|441874|441886|453259|453591|453593|453845|453855|454029|454039|454040|495789|520284|520287|520555|520561|550558|553446|553486|553502|559706|559819|562284|564100|581288|581291|581294|610008|610012|610020|622101|624552|632517|632518|632519|632520|632521|632522|632523|632524|632525|632526|683647|683650|686563|764638|793613|793617|799381|819502|829513|829514|829515|829516|829517|829518|829519|860228|892486|932462|932463|944140|944141|953860|953861|953862|961208|964928|964929|964930|964931|964932|964933|964934|964935|964936|964937|964938|964939|964940|964941|964942|964943|964944|964945|964946|964947|964948|964949|964950|964951|964952|964953|964954|964955|964956|964957|964958|964959|964960|964961|964962|964963|964964|964965|964966|964967|964968|964969|964970|964971|964972|964973|964974|964975|964976|966192", + "text": "Autosomal dominant polycystic kidney disease" + }, + { + "baseId": "28565", + "text": "Berger disease" + }, + { + "baseId": "28566|28567", + "text": "SELECTIN P POLYMORPHISM" + }, + { + "baseId": "28568|28569|28570|28571|28572|28573", + "text": "Bernard-Soulier syndrome type C" + }, + { + "baseId": "28568|28572|193388|250908|250909|288697|289405|289406|289407|289408|292421|292427|292440|292610|292611|353614|404833|429986|514274|576180|615646|615649|620752|720140|733766|887910|887911|887912|887913|887914|887915|887916|887917|887918|887919|891562|980909", + "text": "Bernard Soulier syndrome" + }, + { + "baseId": "28574|28575|28576|28577|28578|28579|28580|227310|227311|303443|303446|303448|303452|303453|306836|306837|306842|306843|306844|306845|306846|306850|306857|306869|311683|311685|311691|311697|311698|311699|311701|311703|311717|311718|311757|311759|311770|311772|311784|311791|311794|311795|311801|404771|404771|404772|404773|404773|620270|620271|620272|620273|620274|620275|620799|620800|620801|620802|679757|679758|711137|730513|736286|796071|861594|898413|898414|898415|898416|898417|898418|898419|898420|898421|898422|898423|898424|898425|898426|898427|898428|898429|898430|898431|898432|898433|898434|898435|898436|898437|898438|898439|898440|898441|898442|898443|898444|898445|898446|900403|900404|900405|900406|900407|961852|975889", + "text": "Platelet glycoprotein IV deficiency" + }, + { + "baseId": "28574|404848|615436", + "text": "Inherited bleeding disorder, platelet-type" + }, + { + "baseId": "28577|32792", + "text": "Malaria, cerebral, resistance to" + }, + { + "baseId": "28585|28590|28591|453597|623608|623609", + "text": "Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal" + }, + { + "baseId": "28589", + "text": "Hypereosinophilic syndrome, idiopathic, resistant to imatinib" + }, + { + "baseId": "28596", + "text": "PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM" + }, + { + "baseId": "28597", + "text": "PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM" + }, + { + "baseId": "28598", + "text": "Mo ALLOANTIGEN POLYMORPHISM" + }, + { + "baseId": "28600", + "text": "Ca/Tu ALLOANTIGEN POLYMORPHISM" + }, + { + "baseId": "28610|28612|301272|301273|301278|301279|301281|301282|301284|301289|304466|304467|304468|304476|304483|304486|309077|309079|309081|309082|309170|309171|309173|309175|309176|309180|309193|309196|309200|309202|309203|309205|309211|309217|309218|309221|309223|309225|480748|480749|550804|722204|777786|897054|897055|897056|897057|897058|897059|897060|897061|897062|897063|897064|897065|897066|897067|897068|897069|897070|897071|897072|897073|897074|897075|897076|897077|897078|897079|897080|897081|897082|897083|897084|900285|900286|900287", + "text": "Congenital plasminogen activator inhibitor type 1 deficiency" + }, + { + "baseId": "28611", + "text": "Transcription level of plasminogen activator inhibitor 1" + }, + { + "baseId": "28613|28614|28615|28619", + "text": "Dysplasminogenemia" + }, + { + "baseId": "28613|28616|28617|28618|28620|28621|28622|87115|615413|615414|615725|818636|919015", + "text": "Plasminogen deficiency, type I" + }, + { + "baseId": "28622|213961|213962|241599|373488|373500|608923|608924|608925|608926|608927|608929|614671|614672|614673|614674|614675|614676|614677|679943|679944|679945|679946|685389", + "text": "Otitis media, susceptibility to" + }, + { + "baseId": "28624|28625|28626|28627|28628|28629|28630|28631|28633|28636|28637|38797|38798|38799|170937|170938|190498|190851|192018|193046|266324|269091|270014|298997|299002|299009|299010|299013|299017|299018|299023|299027|299032|299033|299034|299038|299056|299057|299062|299065|299068|299072|299076|299085|299088|299089|299090|301411|301415|301416|301417|301432|301433|301438|301440|301441|301456|301459|301460|301463|301464|301465|301466|301467|301468|301469|301470|301476|301486|301487|301490|301491|301492|301502|305802|305803|305804|305805|305806|305807|305808|305814|305815|305821|305829|305832|305834|305835|305841|305843|305844|305848|305850|305853|305854|305856|305863|305868|305871|305872|305873|305875|306028|306031|306033|306046|306048|306054|306055|306059|306068|306070|306071|306074|306076|306080|306081|306089|306091|306092|306096|306100|306105|306106|306107|306113|306114|306115|306116|306117|306122|306125|306128|306129|353743|428520|538382|538383|538383|552092|552093|587222|622833|710176|735417|735419|788792|798568|858556|858557|895327|895328|895329|895330|895331|895332|895333|895334|895335|895336|895337|895338|895339|895340|895341|895342|895343|895344|895345|895346|895347|895348|895349|895350|895351|895352|895353|895354|895355|895356|895357|895358|895359|895360|895361|895362|895363|895364|895365|895366|895367|895368|895369|895370|895371|895372|895373|895374|895375|895376|895377|895378|895379|895380|895381|895382|895383|896186|896187|896188|896189|896190|976532", + "text": "Arterial calcification, generalized, of infancy, 1" + }, + { + "baseId": "28625|28628|28629|28632|28633|28634|28635|38797|170937|170938|190498|190851|192018|193046|269091|270014|299009|299013|299017|299018|299027|299032|299033|299034|299056|299057|299062|299065|299068|299072|299076|299085|299088|299089|299090|301411|301415|301416|301417|301432|301433|301438|301440|301441|301456|301459|301460|301463|301464|301465|301466|301467|301468|301469|301470|301476|301486|301487|301491|301492|301502|305802|305805|305806|305808|305814|305815|305821|305829|305832|305841|305843|305844|305848|305853|305854|305863|305871|305872|305873|305875|306028|306048|306054|306055|306059|306068|306070|306071|306074|306076|306080|306089|306091|306092|306096|306105|306106|306107|306113|306114|306115|306116|306117|306122|306125|306128|306129|428520|437699|538382|538383|538383|587222|710176|735417|735419|895327|895328|895329|895330|895331|895332|895333|895334|895335|895336|895337|895338|895339|895340|895341|895342|895343|895344|895345|895346|895347|895348|895349|895350|895351|895352|895353|895354|895355|895356|895357|895358|895359|895360|895361|895362|895363|895364|895365|895366|895367|895368|895369|895370|895371|895372|895373|895374|895375|895376|895377|895378|895379|895380|895381|895382|895383|896186|896187|896188|896189|896190|920221", + "text": "Hypophosphatemic rickets, autosomal recessive, 2" + }, + { + "baseId": "28630|679748", + "text": "Coronary sclerosis, medial, of infancy" + }, + { + "baseId": "28638|34156|45087|45088|45088|45089|45089|54995|54997|54997|54998|54999|54999|55000|55002|55002|55003|55003|55004|55007|55007|55008|55009|55010|55011|55011|55012|55012|55013|55013|55015|55015|55016|55017|55017|55018|55019|55020|55022|55022|55023|141663|141664|141664|141667|165554|165554|176810|176814|176814|176821|176822|176827|176827|176829|176830|178211|178212|178212|178213|178214|178215|178216|178256|178295|178295|178302|178718|178718|178719|178719|189967|189968|189968|189969|189969|189971|189972|189972|189973|189974|198483|198485|198486|198487|198488|198489|198490|198491|198492|198493|198495|198495|198496|198501|198502|198503|198503|198504|198505|198506|198508|198509|209378|209379|209379|209380|209381|224518|224519|224520|231347|231347|231348|231350|231351|231352|231352|231409|231990|242747|242747|242748|242749|242750|242751|242751|242752|259009|259010|259011|259012|259013|259018|259018|328410|328411|328413|328416|328421|338341|338344|338347|338354|338354|338357|338360|338360|338363|338363|338366|338372|338375|338377|344418|344420|344423|344424|344426|344432|344434|344435|345829|345830|345836|345838|345841|360442|360442|374966|374969|374970|374970|374982|374996|375906|375910|376039|378156|378166|378175|390545|401928|401930|401992|401992|402000|402002|402004|402008|402011|402442|402444|402449|402451|402614|415559|445770|445771|466804|466804|467661|467663|467664|467666|467856|467858|467860|467862|467865|467867|467868|468041|468042|468046|468051|468059|468066|487694|487930|487930|497846|505898|506036|506309|506807|510741|510744|510744|510746|511136|530995|531006|531127|531128|531131|531219|531221|531227|531229|531229|531240|531246|531249|531491|531495|531497|531500|569038|569045|571099|571101|571105|571109|571111|571316|571319|571326|571330|574452|574453|574454|621566|645852|645853|645854|645855|645856|645857|645858|645859|645860|645861|645862|645863|645864|645865|645866|645867|645868|645869|645870|645871|645872|645873|645874|652949|653453|653455|682628|684672|684675|688768|688769|715452|740741|797529|821042|822277|845295|845296|845297|845298|845299|845300|845301|845301|845302|845303|845304|845305|845306|845307|845308|845309|845310|845311|845312|845313|845314|845315|845316|845317|845318|845319|845320|845321|845322|845323|852201|852742|858262|877451|877452|877453|877454|877455|877456|877457|877458|877459|877460|877461|877462|877463|877464|877465|877466|877467|877467|877468|877469|877470|877471|877472|877473|877474|877475|877476|877477|877478|906102|919727|919728|919729|928249|928250|928251|928252|928253|928254|928255|928256|928257|937916|937917|937918|937919|937920|937921|937922|937923|937924|949906|949907|949908|949909|949910|949911|949912|949913|949914|958102|958103|958104|960218", + "text": "Naxos disease" + }, + { + "baseId": "28639|34156|45087|45088|45088|45089|45089|54995|54997|54997|54998|54999|54999|55000|55002|55002|55003|55003|55004|55007|55007|55008|55009|55010|55011|55011|55012|55012|55013|55013|55015|55015|55016|55017|55017|55018|55019|55020|55022|55022|55023|141663|141664|141664|141667|165554|165554|176810|176814|176814|176821|176822|176827|176827|176829|176830|178211|178212|178212|178213|178214|178215|178216|178256|178295|178295|178302|178718|178718|178719|178719|189967|189968|189968|189969|189969|189971|189972|189973|189974|198483|198485|198486|198487|198488|198489|198489|198490|198491|198492|198493|198495|198495|198496|198501|198502|198503|198503|198504|198505|198506|198508|198509|209379|224518|224519|224520|231347|231347|231348|231350|231351|231352|231352|231409|231990|242747|242747|242748|242749|242750|242751|242751|242752|259009|259010|259011|259012|259013|259018|259018|328410|328411|328413|328416|328421|338341|338344|338347|338354|338357|338360|338360|338363|338363|338375|338377|344418|344420|344423|344424|344426|344432|344434|344435|345829|345830|345836|345838|345841|360442|360442|374966|374969|374970|374970|374982|374996|375906|375910|376039|378156|378166|378175|390545|401928|401930|401992|401992|402000|402002|402004|402008|402011|402442|402444|402449|402451|402614|415559|445770|445771|466804|466804|467661|467663|467664|467666|467856|467858|467860|467862|467867|467868|468041|468042|468046|468051|468059|468066|487694|487930|487930|497846|505898|506036|506309|506807|510741|510744|510744|510746|511136|530995|531006|531127|531128|531131|531219|531221|531227|531229|531229|531240|531246|531249|531491|531495|531497|531500|569038|569045|571099|571101|571105|571109|571111|571316|571319|571326|571330|574452|574453|574454|621566|645852|645853|645854|645855|645856|645857|645858|645859|645860|645861|645862|645863|645864|645865|645866|645867|645868|645869|645870|645871|645872|645873|645874|652949|653453|653455|682628|684672|684675|688768|688769|715452|740741|797529|821042|822277|845295|845296|845297|845298|845299|845300|845301|845302|845303|845304|845305|845306|845307|845308|845309|845310|845311|845312|845313|845314|845315|845316|845317|845318|845319|845320|845321|845322|845323|852201|852742|858262|877451|877452|877453|877454|877455|877456|877457|877458|877459|877460|877461|877462|877463|877464|877465|877466|877467|877467|877468|877469|877470|877471|877472|877473|877474|877475|877476|877477|877478|906102|928249|928250|928251|928252|928253|928254|928255|928256|928257|937916|937917|937918|937919|937920|937921|937922|937923|937924|949906|949907|949908|949909|949910|949911|949912|949913|949914|958102|958103|958104|960218", + "text": "Arrhythmogenic right ventricular cardiomyopathy, type 12" + }, + { + "baseId": "28640|496458", + "text": "Deafness, autosomal recessive 91" + }, + { + "baseId": "28641|28642|28643|28644|28645|28646|28647|28648|28649|28650|28651|28652|28653|28654|28655|132061|171270|195230|248654|248655|263003|291712|291719|291720|291722|291725|291729|293048|293052|293053|293054|296315|296322|296380|296386|406365|485692|485693|485730|485731|485732|485733|485743|485744|500971|576108|589049|889738|889739|891710", + "text": "Pituitary hormone deficiency, combined, 1" + }, + { + "baseId": "28656|28657|28658|28659|28661|191630|195228|195229|255746|255747|255748|255749|255750|255753|255754|255755|265364|273730|325429|325430|325431|325447|325449|325450|325453|325454|325459|325460|325461|325465|325470|335076|335083|335093|335095|335106|335109|335110|335111|335119|335120|341526|341527|341530|341533|341534|341538|341539|341542|341544|341546|341548|341558|341559|341565|341568|341570|341571|341574|343041|343043|343044|343045|343046|343049|343051|343053|343054|374380|374384|377569|466456|466709|505400|513358|530118|530311|549733|567507|570300|570305|586789|589208|611824|620543|620544|620877|644688|644689|644690|644691|714925|714926|740203|822294|843875|843876|843877|843878|843879|875319|875320|875321|875322|875323|875324|875325|875326|875327|875328|875329|875330|875331|875332|875333|875334|875335|875336|875337|875338|875339|875340|875341|875342|875343|875344|875345|875346|875347|875348|875349|875350|875351|875352|876672|876673|927820|927821|937455|949405|949406|957766|971050", + "text": "Glycogen storage disease IXb" + }, + { + "baseId": "28662|28663|187135|303227|303228|303230|303235|303239|303240|306521|306522|306526|306527|306530|306533|306534|306535|306537|306549|306550|306556|311386|311402|311403|311407|311415|311425|311426|311427|311430|311441|311549|311550|311552|311555|311556|311564|311567|311570|311583|311584|311585|311587|311594|311605|311610|311611|311612|311616|311620|369167|898258|898259|898260|898261|898262|898263|898264|898265|898266|898267|898268|898269|898270|898271|898272|898273|898274|898275|898276|898277|898278|898279|900382|924878|980926", + "text": "Deficiency of phosphoserine phosphatase" + }, + { + "baseId": "28664|28665|28666|28667|28668|28669|28670|255683|255684|255686|255687|255688|325084|325085|325088|334738|334745|334747|334751|341225|341228|341229|342736|342747|342749|375409|377545|466384|529996|530000|530422|530429|568095|570108|570252|570254|574030|612310|644597|644598|644599|644600|682739|682740|714876|791583|791584|843756|843757|875097|875098|875099|875100|875101|875102|875103|875104|875105|875106|876651|876652|927778|927779|927780|927781|937415|940358|949368|949369|957733", + "text": "Glycogen storage disease IXc" + }, + { + "baseId": "28671", + "text": "Spina bifida, folate-sensitive, susceptibility to" + }, + { + "baseId": "28673", + "text": "High density lipoprotein cholesterol level quantitative trait locus 9" + }, + { + "baseId": "28675|28676|38793|53745|53747|53749|198179|198180|221624|231648|239866|239867|239878|298816|298825|298827|298834|301293|301295|301306|301307|301316|301322|305675|305677|305680|305681|305682|305798|305800|395049|395050|455100|455310|455816|455820|521709|560550|614922|651458|651563|686792|831471|895241|895242|895243|895244|895245|895246|895247|895248|895249|895250|895251|895252|924233|933148", + "text": "Dilated cardiomyopathy 1P" + }, + { + "baseId": "28676|38791|38792|53747|198626", + "text": "Familial hypertrophic cardiomyopathy 18" + }, + { + "baseId": "28676|29190|52833|52938|55985|78119|78291|78555|78664|78844|178515|178537|178589|188540|188633|224352|224388|224414|224445|224464|224533|224556|243380|360883|372261|406276|419266|419289|485934|911626|984272", + "text": "Sudden cardiac death" + }, + { + "baseId": "28676|51881|53163|53484|55325|55985|78578|178463|178534|178550|178554|178582|178585|178592|178613|178614|178665|189989|224197|224265|224279|224285|224288|224292|224293|224322|224335|224353|224356|224362|224387|224402|224437|224510|224527|224538|224555", + "text": "Cardiac arrest" + }, + { + "baseId": "28678|28679|28680|28681|28682|28685|28686|28687|256854|433597|497509|800131|800132|982176|982177|982178|982179", + "text": "Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency" + }, + { + "baseId": "28683|28684", + "text": "Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency" + }, + { + "baseId": "28689|28690|48370|48371|137025|137026|137027|137028|137029|195644|246889|281017|281018|281027|281028|281030|281032|281038|281039|281042|281614|281615|281618|281621|281628|281633|281634|281638|282807|282808|282821|282823|282824|282825|282828|282829|282860|282862|283126|283134|283135|283139|283146|283147|365168|365345|365446|448401|490997|498786|557354|628208|628209|628210|628211|690657|746615|787021|788740|824351|824352|824353|864702|864703|864704|864706|864707|864708|864710|864711|864712|864714|864715|864717|864718|865199|865200|920152|922146|930643|952500|952501|964159", + "text": "Congenital disorder of glycosylation type 1t" + }, + { + "baseId": "28691|28694|28696", + "text": "OVARIAN CANCER, EPITHELIAL, SOMATIC" + }, + { + "baseId": "28691|28694|31371|31378", + "text": "Seborrheic keratosis" + }, + { + "baseId": "28691|28692|28694|40609|40610|54631", + "text": "Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi" + }, + { + "baseId": "28691|28692|28694|28696|40610|48303|173901|213941|213942|213943|578414|983285|983286|983287", + "text": "PIK3CA related overgrowth spectrum" + }, + { + "baseId": "28691|226759|411524|411525", + "text": "Rosette-forming glioneuronal tumor" + }, + { + "baseId": "28691|576074", + "text": "MACRODACTYLY, SOMATIC" + }, + { + "baseId": "28692", + "text": "Macrodactyly of toe" + }, + { + "baseId": "28692|40609|40610|576074|576075|970762", + "text": "Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth" + }, + { + "baseId": "28692|28694|48302|48303|48304|48305|48407|48414|214867|363349|827717|855106", + "text": "Megalencephaly-capillary malformation-polymicrogyria syndrome" + }, + { + "baseId": "28699", + "text": "ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-1 POLYMORPHISM" + }, + { + "baseId": "28700", + "text": "ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-3 POLYMORPHISM" + }, + { + "baseId": "28701|28702|28703|28704|28705|28706|28707|28708|28709|28709|28710|28710|28711|28711|28712|28713|28714|28715|28716|28717|28718|28720|28721|28722|28722|28723|186615|186616|186616|186617|186618|186619|186620|186621|186622|249724|357053|357054|357055|357056|357057|357058|357059|357060|357062|357063|357064|357065|357066|357067|357068|357069|357070|357071|357072|364747|421205|439921|486846|495070|508966|511220|535284|540714|540716|540720|540723|540745|540774|540783|540788|540789|540797|540799|540802|540807|540808|540810|540812|540817|540818|540822|540824|540833|540839|540861|540863|540865|540867|540868|540870|540877|540879|540880|540881|540884|540888|540890|540894|540896|540900|540900|540902|540939|540943|540945|540947|540957|540957|540959|540986|540990|541001|541009|541011|612078|623243|941693|952240|966785", + "text": "Infantile hypophosphatasia" + }, + { + "baseId": "28703|28709|28709|28710|28711|28714|28715|28716|28721|28722|28722|28723|186616|540900|540957|621069", + "text": "Childhood hypophosphatasia" + }, + { + "baseId": "28703|28709|28709|28710|28710|28711|28711|28712|28714|28716|28718|28722|186616|186617|540900|540957|621068|621069|818168|918599|918600|918605|920132|941693|964143|964144|964145|964146|964147|964148|964645|980301", + "text": "Adult hypophosphatasia" + }, + { + "baseId": "28703|28706|28709|28710|28711|28712|28713|28714|28716|28718|28722|186619|191159|194838|194840|195584|249721|249722|249723|249727|272484|273374|274268|278888|278891|278892|278895|278903|278904|278909|278910|278914|278915|278918|278919|278920|279040|279041|279048|279050|279053|279054|279055|279066|280337|280339|280343|280349|280352|280353|280354|280356|280362|280378|280385|280390|280393|280395|357053|357058|357070|364857|417652|421205|442712|486846|540880|540890|540957|576481|621068|621069|621070|732099|732100|746101|761575|780524|780528|799156|823326|863513|863514|863515|863516|863517|863518|863519|863520|863521|863522|863523|863524|863525|863526|863527|863528|863529|916813|963248|964143|972538|977477|977478|977488|977491|977493|977494|977495|983942", + "text": "Hypophosphatasia" + }, + { + "baseId": "28709|28716|28719|28721", + "text": "Odontohypophosphatasia" + }, + { + "baseId": "28717|28718", + "text": "Hypophosphatasia, perinatal lethal" + }, + { + "baseId": "28724", + "text": "ACID PHOSPHATASE 1, SOLUBLE, A/B POLYMORPHISM OF" + }, + { + "baseId": "28725|28726|28727|28729|28730|28733|28734|28736|189023|191497|192083|193434|195243|252953|252954|252955|252956|252957|252958|252959|265375|265376|267188|303476|303483|303485|303486|306890|306891|306901|306903|306906|311786|311788|311789|311817|311825|311827|311828|361407|369290|369987|369991|371396|493027|578462|584498|585376|588060|589154|589239|623143|898447|898448|898449|898450|898451|898452|898453|898454|898455|898456|898458|898460|898461|898462|898463|898464|898465|898466|898467|900408|900409|970221", + "text": "Progressive familial intrahepatic cholestasis 3" + }, + { + "baseId": "28726|28729|28730|28731|28732|28736|48440|193434|194305|361407|578462|590360", + "text": "Low phospholipid associated cholelithiasis" + }, + { + "baseId": "28736", + "text": "ABCB4-related disorders" + }, + { + "baseId": "28737", + "text": "Colchicine resistance" + }, + { + "baseId": "28740", + "text": "Hyperapobetalipoproteinemia, susceptibility to" + }, + { + "baseId": "28741|28742", + "text": "Zellweger syndrome 2" + }, + { + "baseId": "28743|98744|98745|98745|135331|143213|143214|177124|253177|266584|271736|272407|272932|275181|275390|305885|305892|305893|305894|305899|305900|305911|305913|305914|305915|305919|305922|305925|305926|305927|305931|309956|309959|309971|309973|309975|309977|309979|309981|309982|309983|315236|315237|315239|315240|315241|315249|315251|315255|315261|315272|315277|315278|315282|315282|315286|315303|315304|315305|315314|315318|315325|315328|315343|315355|315357|315360|357639|487406|489384|492146|492372|494110|544462|544464|544469|544757|544760|544760|544763|544802|544857|544860|544862|544864|544868|544868|563082|584201|586608|587303|587303|589226|637402|637403|637404|637405|637406|711640|723187|751248|766891|766892|766893|766894|783156|835051|835052|835053|835054|835055|900052|900053|900054|900055|900056|900057|900058|900059|900060|900061|900062|900063|900064|900065|900066|900067|900068|900069|900070|900071|900072|900073|900074|900075|900076|900077|900078|900079|900080|900081|900082|900083|900084|900085|900086|934420|934421|946183|955500|955501|955502|955503", + "text": "Peroxisome biogenesis disorder 5a (zellweger)" + }, + { + "baseId": "28743|28744|98745|143215|172169|271736|315282|357639|544462|544464|544469|544757|544760|544763|544802|544857|544860|544862|544864|544868|587303", + "text": "Peroxisome biogenesis disorder 5B" + }, + { + "baseId": "28747|28748|28749|28750|28751|28752|28753|28754|28755|28756|28757|28759|28760|28761|28762|213598|253807|253808|253809|253810|253811|253813|253814|253815|264466|265681|310610|310612|310613|310615|310617|310618|310619|310623|315850|315853|315856|315857|315859|315860|321876|321886|321888|321894|321895|321898|321901|322582|322585|322593|322594|322595|384626|429125|460114|460116|460124|460126|460226|460230|460232|460248|460250|460482|460486|460488|460498|460504|460936|493972|511872|513595|525338|525342|525343|525345|525349|525349|525442|525444|525518|525531|525536|525775|525779|525781|539416|552144|563901|563907|563908|563922|564712|564716|564729|566441|569751|569754|569765|589284|612289|612290|639103|639104|639105|639106|639107|639108|639109|639110|639111|639112|639113|639114|639115|639116|639117|639118|639119|639120|639121|639122|639123|639123|639124|712449|712450|712451|712452|712453|712454|724044|724045|737568|737569|737570|767882|767883|767884|767885|783669|790973|790974|790975|790976|820232|837165|837166|837167|837168|837169|837170|837171|837172|837173|837174|837175|837176|837177|837178|837179|837180|866085|866086|866087|866088|866089|866090|866091|866092|866093|866094|866095|866096|866097|866098|866099|868486|903569|917790|925902|925903|925904|925905|925906|925907|925908|925909|935142|935143|935144|935145|935146|947017|947018|947019|947020|947021|947022|947023|947024|947025|947026|956146|956147|956148|956149|961861|964344", + "text": "Familial hemophagocytic lymphohistiocytosis 2" + }, + { + "baseId": "28757", + "text": "Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to" + }, + { + "baseId": "28763|28764|28765", + "text": "PEPTIDE TRANSPORTER PSF2 POLYMORPHISM" + }, + { + "baseId": "28768|28769", + "text": "PEPTIDE TRANSPORTER PSF1 POLYMORPHISM" + }, + { + "baseId": "28770", + "text": "TAP1 deficiency, somatic" + }, + { + "baseId": "28772", + "text": "PRB3S(CYS)" + }, + { + "baseId": "28773", + "text": "PRB3M(NULL)" + }, + { + "baseId": "28774", + "text": "Coronary artery spasm 2, susceptibility to" + }, + { + "baseId": "28774|28775|28776", + "text": "Enzyme activity finding" + }, + { + "baseId": "28775", + "text": "Microvascular complications of diabetes 5" + }, + { + "baseId": "28777|28778|28779|28780", + "text": "Brachydactyly type E2" + }, + { + "baseId": "28781|28782|28786|28787|75363|265484|290731|290738|290748|290753|290757|290758|290763|290766|291668|291673|291687|291689|294874|294878|294882|294883|294894|294895|294898|294901|294912|295258|295260|295270|295275|295276|295277|744066|748295|889129|889130|889131|889132|889133|889134|889135|889136|889137|889138|889139|889140|889141|889142|891663|959509", + "text": "Metaphyseal chondrodysplasia, Jansen type" + }, + { + "baseId": "28783|28784|28785|28789|28790|75363|265484|290731|290738|290748|290753|290757|290758|290763|290766|291668|291673|291687|291689|294874|294878|294882|294883|294894|294895|294898|294901|294912|295258|295260|295270|295275|295276|295277|744066|748295|889129|889130|889131|889132|889133|889134|889135|889136|889137|889138|889139|889140|889141|889142|891663", + "text": "Chondrodysplasia Blomstrand type" + }, + { + "baseId": "28788|536213|619847", + "text": "Eiken skeletal dysplasia" + }, + { + "baseId": "28791|28792|28793|513537|583090", + "text": "Failure of tooth eruption, primary" + }, + { + "baseId": "28794", + "text": "VON HIPPEL-LINDAU SYNDROME, MODIFIER OF" + }, + { + "baseId": "28794", + "text": "Multiple myeloma, translocation 11,14 type" + }, + { + "baseId": "28795|28797", + "text": "Hypoparathyroidism, familial isolated 1" + }, + { + "baseId": "28798|50291|213769|213770|213771|213772", + "text": "Primary hyperparathyroidism" + }, + { + "baseId": "28802|45439|136364", + "text": "Tropical calcific pancreatitis" + }, + { + "baseId": "28806|28807|28808|28809|28810|28811|28812|28813|28814|28815|28816|28817|28818|28819|28820|165743|254940|320515|320518|320519|320521|320522|320523|320534|329297|329298|329316|329317|329324|329327|329328|329335|329337|329338|329342|335880|335881|335898|335903|335905|335917|335921|337835|337837|337838|337839|337844|337871|337877|337880|362221|424223|464201|653888|871851|871852|871853|871854|871855|871856|871857|871858|871859|871860|871861|871862|871863|871864|871865|871866|871867|871868|964075", + "text": "Tooth agenesis, selective, 3" + }, + { + "baseId": "28809|28814|53352|231292|320523|329317|335905|528503|568867|642356|642357|642358|754034|841371|927031|948538", + "text": "Partial congenital absence of teeth" + }, + { + "baseId": "28821", + "text": "PAX8 POLYMORPHISM" + }, + { + "baseId": "28821|28822|28823|28824|28825|28826|28827|28828|177196|250091|281649|281651|281655|281656|281664|281665|281670|281672|281677|281678|282303|282304|282305|282306|282309|282310|282324|282325|282326|282328|282329|282330|282332|283714|283718|283719|283723|283725|283726|283729|283730|283731|283927|283928|283929|283945|283946|283955|283968|283973|283974|283980|283981|283983|283992|284003|427874|685834|690708|690709|690710|690712|695070|719196|732722|762164|790032|790033|790034|790035|861076|880884|880885|880886|880887|880888|880889|880890|880891|880892|880893|880894|880895|880896|880897|880898|880899|880900|880901|880902|880903|880904|880905|880906|880907|880908|880909|880910|880911|880912|880913|880914|880915|880916|882786|882787|903693|903694", + "text": "Hypothyroidism, congenital, nongoitrous, 2" + }, + { + "baseId": "28830|28831", + "text": "Diabetes mellitus, ketosis-prone, susceptibility to" + }, + { + "baseId": "28832|28833|432299", + "text": "Maturity-onset diabetes of the young type 9" + }, + { + "baseId": "28834|28836|28837|28838|28839|28840|28841|28842|100286|100287|166076|166077|166077|166080|166081|167527|167528|460453|524875|525106|569426|623301|650386|650387|695464|836511|836512|836512|852537|903495|962724|962725|962726|962727|962833", + "text": "Renal coloboma syndrome" + }, + { + "baseId": "28844", + "text": "Papillorenal syndrome with macular abnormalities" + }, + { + "baseId": "28845", + "text": "Colonic adenoma recurrence, reduced risk of" + }, + { + "baseId": "28850|38776|38777|38778|38779|54363", + "text": "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia" + }, + { + "baseId": "28850|28891|28899|28902|28905|29203|38777|171928|171929|171930|363045|363149|363150|363151|363152|363582|615782|615783", + "text": "Hematologic neoplasm" + }, + { + "baseId": "28851", + "text": "Tetraamelia, autosomal recessive" + }, + { + "baseId": "28852|28860|28860|28861|28863|28865|28865|28867|28867|28869|28870|28870|28871|28872|46890|141188|141189|191624|191624|191625|191625|191626|191626|207479|207480|236899|236899|252842|252844|252845|252845|252846|252847|252847|252848|252848|252849|252849|252850|252850|252854|252854|252855|252856|252856|252858|252860|252860|252864|252864|252866|252866|252868|252872|252873|252874|252875|252876|252876|252880|252881|259861|259861|259864|259864|266255|267367|267367|267807|267829|268321|268762|269149|269149|272005|272221|272371|272807|273308|273308|302938|302939|302940|302941|302943|302944|302947|302952|302961|302966|302968|302970|302973|302977|302978|302982|302983|302990|302992|302994|303006|303006|303007|303011|303011|303020|303020|303022|303022|303024|303026|303029|303029|303033|303034|303040|303041|303046|303046|303047|303048|303049|303049|303053|306259|306260|306264|306265|306266|306267|306268|306269|306271|306272|306273|306274|306275|306275|306276|306287|306290|306290|306294|310985|310988|310989|311012|311032|311033|311042|311058|311061|311068|311070|311071|311099|311107|311108|311109|311112|311114|311133|311135|311142|311143|311146|311148|311149|311149|311156|311157|311157|311164|311245|311246|311248|311252|311257|311259|311260|311261|311262|311264|311265|311266|311267|311268|311269|311272|311274|311277|311278|311279|311279|311280|311280|311282|311283|311284|311285|311286|311286|311287|311288|311288|311289|311290|311295|353817|353818|362226|363692|363692|369448|428713|428715|428717|456714|456720|456727|456728|456731|456734|457358|457360|457364|457781|502039|508730|514283|522675|522678|522680|522683|522925|522929|523100|523102|523306|523316|561052|561611|561615|561618|561623|561953|564313|566860|566863|566874|587106|615920|636154|636155|636156|636157|636158|636159|636160|636161|636162|636163|636164|636165|682808|692237|692238|692239|700063|700067|700070|700071|722524|750640|750642|750647|766287|766289|782863|782867|790721|790722|802088|821941|821942|821943|821944|821945|821946|821947|833602|833603|833604|833605|833606|833607|833608|833609|833610|833611|833612|833613|833614|833615|852088|852090|898063|898064|898065|898066|898067|898068|898069|898070|898071|898072|898073|898074|898075|898076|898077|898078|898079|898080|898081|898082|898083|898084|898085|898086|898087|898088|898089|898090|898091|898092|898093|898094|898094|898095|898096|898097|898098|898099|898100|898101|898102|898103|898104|898105|898106|898107|900361|900362|900363|900364|924851|924852|924853|924854|924855|933889|933890|945636|955159|961002|965968|965969|966059", + "text": "Greig cephalopolysyndactyly syndrome" + }, + { + "baseId": "28853|28854|28857|28859|28860|28860|28862|28865|28867|28868|28870|46866|46867|46868|46869|46870|46871|46872|46873|46874|46875|46876|46877|46878|46879|46880|46881|46882|46883|46884|46885|46886|46887|46888|46889|46890|46890|141188|141189|191624|191624|191625|191625|191626|191626|207479|207480|236899|236899|252842|252844|252845|252845|252846|252847|252847|252848|252848|252849|252849|252850|252850|252854|252854|252855|252856|252856|252858|252860|252860|252864|252864|252866|252866|252868|252872|252873|252874|252875|252876|252876|252880|252881|259861|259861|259864|259864|266255|267367|267367|267807|267829|268321|268762|269149|269149|272005|272221|272371|272807|273308|273308|302938|302939|302940|302941|302943|302944|302947|302952|302961|302966|302968|302970|302973|302977|302978|302982|302983|302990|302992|302994|303006|303006|303007|303011|303011|303020|303020|303022|303022|303024|303026|303029|303029|303033|303034|303040|303041|303046|303046|303047|303048|303049|303049|303053|306259|306260|306264|306265|306266|306267|306268|306269|306271|306272|306273|306274|306275|306275|306276|306287|306290|306290|306294|310985|310988|310989|311012|311032|311033|311042|311058|311061|311068|311070|311071|311099|311107|311108|311109|311112|311114|311133|311135|311142|311143|311146|311148|311149|311149|311156|311157|311157|311164|311245|311246|311248|311252|311257|311259|311260|311261|311262|311264|311265|311266|311267|311268|311269|311272|311274|311277|311278|311279|311279|311280|311280|311282|311283|311284|311285|311286|311286|311287|311288|311288|311289|311290|311295|353817|353818|363692|369448|428713|428715|456714|456720|456727|456728|456731|456734|457358|457360|457364|457781|502039|522675|522678|522680|522683|522925|522929|523100|523102|523306|523316|561052|561611|561615|561618|561623|561953|564313|566860|566863|566874|587106|615920|636154|636155|636156|636157|636158|636159|636160|636161|636162|636163|636164|636165|692237|692238|692239|700063|700067|700070|700071|722524|750640|750642|750647|766287|766289|782863|782867|821941|821942|821943|821944|821945|821946|821947|833602|833603|833604|833605|833606|833607|833608|833609|833610|833611|833612|833613|833614|833615|852088|852090|898070|898076|898079|898083|898085|898087|898089|898094|898099|898102|898103|898104|898106|900362|900363|919105|919106|924851|924852|924853|924854|924855|933889|933890|945636|955159", + "text": "Pallister-Hall syndrome" + }, + { + "baseId": "28856|28865|259861|259864|428715", + "text": "Preaxial polydactyly 4" + }, + { + "baseId": "28858|28859|28860|48110", + "text": "Postaxial polydactyly, type A1/B" + }, + { + "baseId": "28864", + "text": "Greig cephalopolysyndactyly syndrome, severe" + }, + { + "baseId": "28866", + "text": "Postaxial polydactyly B" + }, + { + "baseId": "28873|28874|28875|45756|45756|45757|45758|45759|45759|101169|101170|101171|101172|101173|101173|190474|191228|191228|191383|191383|191385|191386|191386|191387|191387|191388|191390|191390|191391|191391|191392|191392|191393|191393|191394|191394|195689|195690|195977|195977|223606|223606|237012|250110|250111|250117|250117|250118|250119|250120|250120|250130|250130|250131|250131|250132|250133|250133|250135|250138|250138|266450|266450|266537|266537|266975|269631|269632|271804|271804|281725|281730|281733|281734|281736|281743|281745|281748|281760|282376|282377|282377|282378|282379|282380|282381|282381|282384|282384|282385|282386|282388|282390|282392|283816|283817|283817|283821|283821|283827|283837|283844|283844|283857|283860|283861|283872|283873|283873|283880|283883|283892|283894|283916|283938|283940|283949|284074|284081|284081|284084|284087|284088|284088|284092|284116|284117|284118|284120|284123|284132|284138|284143|284174|284176|361163|361164|361165|405286|442913|448555|448555|448667|448763|489506|511313|516361|558707|559192|559194|587219|587220|589597|628420|628420|628421|628422|628423|690714|690715|690717|690718|690719|690722|690724|690725|690728|690728|690729|696993|696994|696995|696997|696997|707697|707699|707702|719215|719216|719218|746754|778849|780822|801784|824722|824723|824724|880961|880962|880963|880964|880965|880966|880967|880968|880969|880970|880971|880972|880973|880974|880975|880976|880977|880978|880979|880980|880981|880982|880983|880984|880985|880986|880987|880988|880989|880990|880991|880992|882791|918668|918669|922230|942218|962151", + "text": "Holoprosencephaly 9" + }, + { + "baseId": "28876|28877|28878|28879|28880|28881|38771|38772|38773|46945|46946|46947|404807|415302|615814", + "text": "Deafness with labyrinthine aplasia microtia and microdontia (LAMM)" + }, + { + "baseId": "28891", + "text": "Mast cell leukemia" + }, + { + "baseId": "28891|28902|45973|432379|432380", + "text": "Dysgerminoma" + }, + { + "baseId": "28891", + "text": "MAST CELL LEUKEMIA, SOMATIC" + }, + { + "baseId": "28891", + "text": "MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER, SOMATIC" + }, + { + "baseId": "28891|28892", + "text": "MASTOCYTOSIS, SYSTEMIC, SOMATIC" + }, + { + "baseId": "28891|28904|536139|536140", + "text": "Cutaneous mastocytosis" + }, + { + "baseId": "28897", + "text": "Piebaldism with sensorineural deafness" + }, + { + "baseId": "28899", + "text": "MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC" + }, + { + "baseId": "28901|50038|50039|50040|50043|50045|138360|138368|171098|221466|221467|221469|221471|221472|221473|221474|227193|239444|239444|239458|239464|239467|239471|239474|239477|239482|239488|239491|239495|239497|239498|251500|251502|251504|251505|293581|293582|293587|293588|293595|293596|293612|295032|295038|295039|295040|298678|298679|298680|298681|298683|298688|298703|298704|298711|394068|394077|394098|394105|394222|394301|394334|394336|394339|394469|394518|394541|453445|453508|453809|453899|520120|520401|562207|563999|829329|890761|890762|890763|890764|890765|890766|890767|890768|890769|890770|890771|890772|890773|890774|890775|890776|890777|890778|890779|890780|890781|890782|890783|891800", + "text": "Mastocytosis" + }, + { + "baseId": "28902", + "text": "Germ cell tumor of testis" + }, + { + "baseId": "28904|28905|50043|227193|362792", + "text": "Gastrointestinal stromal tumor, familial" + }, + { + "baseId": "28904|179419|362782|362786|362788|362792|362798|362799|362804|362808", + "text": "Thymoma" + }, + { + "baseId": "28906|28907|28908|28909|28910|28911|38770|101163|101164|101167|101168|141091|141092|141093|141094|141095|169046|169048|169049|169050|169051|169052|169053|169054|169055|169056|169057|169058|169059|169060|169061|169062|177146|177278|177721|187399|187400|187401|187402|187403|187404|187405|187407|187408|187409|187410|187411|187412|187413|187415|190470|190472|202797|202800|202803|202809|202813|202817|202819|202825|202836|202839|202840|202841|202843|208087|225868|247389|265619|353907|354156|360091|360196|364043|373077|373079|373082|374207|374216|376029|376043|409114|413374|414698|414699|414700|429553|429554|431922|445223|446889|462969|463705|463706|463720|463723|463725|463729|464033|464186|464197|486756|486757|486758|504533|505050|528142|528144|528484|528486|528489|538022|538023|552174|566406|567998|568018|568019|568854|568860|572775|611419|642342|642343|642344|642345|642346|642347|642348|693473|693475|784711|784712|784713|791397|791398|798673|798674|820618|822095|822096|822097|822098|841351|841352|841353|841354|841355|841356|841357|841358|841359|841360|860100|861579|904256|917786|919524|919525|927020|927021|927022|927023|927024|927025|936596|936597|948530|948531|948532|948533|957200|961317|961620|964414|965993|965994|967280|971516|976663|983762", + "text": "Rett syndrome, congenital variant" + }, + { + "baseId": "28912|28913", + "text": "ERBB2 POLYMORPHISM" + }, + { + "baseId": "28919", + "text": "Ovarian Adenocarcinoma" + }, + { + "baseId": "28923|28924|31368|31370|31371|31372|31378|31381|50063|182676|192091|363005|363079|363127|363577|363607|363608", + "text": "Carcinoma" + }, + { + "baseId": "28924|28926|192091|362947|363005|363006|363007|363008|363009", + "text": "Kidney Carcinoma" + }, + { + "baseId": "28927|28928|28929", + "text": "Childhood hepatocellular carcinoma" + }, + { + "baseId": "28930", + "text": "Autism 9" + }, + { + "baseId": "28931|28932|28933|28934|28935|28936|28937|426707|426708|426709|426710|426711|426712|536234|683222|683223|805247|818178|963502|965958", + "text": "Feingold syndrome 1" + }, + { + "baseId": "28938|28939|83949", + "text": "Large congenital melanocytic nevus" + }, + { + "baseId": "28939|83949", + "text": "Neurocutaneous melanocytosis" + }, + { + "baseId": "28940|28941|28942|48946|142241|142242|172330|172331|206711|275941|275948|275949|275955|275957|276087|276092|276093|276107|276109|276116|276117|276118|276130|276241|276242|276250|276258|276259|276265|276267|276282|276283|276286|276346|276347|276358|276367|276380|276403|276416|276418|276428|276429|276440|364371|404885|861980|861981|861982|861983|861984|861985|861986|861987|861988|861989|861990|861991|861992|861993|861994|861995|861996|861997|861998|861999|862000|862001|862002|862003|862004|862005|862006|862007|862008|862009|862010|864961", + "text": "Noonan syndrome 6" + }, + { + "baseId": "28943|462454|462456|463311|527341|840232|840233|840234|926723|926724|936243|936244|956924|956925|956926", + "text": "Accelerated tumor formation, susceptibility to" + }, + { + "baseId": 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+ "text": "Multiple endocrine neoplasia, type 2a" + }, + { + "baseId": 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927|638928|638929|638930|638931|638932|638933|638934|638935|638936|638937|638938|638939|638940|651962|651964|652000|652032|652034|652127|684174|685272|687627|687628|687629|687630|687632|687633|687634|687635|689981|689982|692829|692831|692832|692834|692835|692839|692840|692842|695475|695478|695479|701341|701345|712366|712367|737485|744443|752096|752097|752098|752103|767715|767717|767721|767727|767729|767730|767734|767738|767739|775485|775666|783590|787586|787643|787663|809872|809875|809911|809915|809918|809922|809933|809934|809939|809947|809950|809953|809958|809962|809965|809968|809970|809971|809976|820204|820205|820206|836802|836803|836804|836805|836806|836807|836808|836809|836810|836811|836812|836813|836814|836815|836816|836817|836818|836819|836820|836821|836822|836823|836824|836825|836826|836827|836828|836829|836830|836831|836832|836833|836834|836835|836836|836837|836838|836839|836840|836841|836842|836843|836844|836845|836846|836847|836848|836849|836850|836851|836852|836853|836854|836855|836856|836857|836858|836859|836860|836861|836862|836863|836864|836865|836866|836867|836868|836869|836870|836871|836872|851373|851375|851772|852246|852251|852545|925792|925793|925794|925795|925796|925797|925798|925799|925800|925801|925802|925803|925804|925805|925806|925807|925808|925809|925810|925811|925812|925813|925814|935016|935017|935018|935019|935020|935021|935022|935023|935024|935025|935026|935027|935028|935029|935030|935031|935032|935033|935034|935035|935036|935037|935038|935039|935040|935041|935042|940167|940168|940169|940957|940958|946872|946873|946874|946875|946876|946877|946878|946879|946880|946881|946882|946883|946884|946885|946886|946887|946888|946889|946890|946891|946892|946893|946894|946895|946896|946897|946898|946899|946900|956040|956041|956042|956043|956044|956045|956046|956047|956048|956049|956050|956051|956052|956053|956054|956055|959415", + "text": "Multiple endocrine neoplasia, type 2" + }, + { + "baseId": "28948|28955|28956|28957|28958|28968|28970|28972|28975|28990|31716|31720|31721|31723|31724|31725|31726|31727|31728|31729|31731|31732|31735|31736|31738|31741|31742|31744|31747|31749|36242|36249|45179|45180|45181|45182|45183|45184|45185|45186|45187|45188|45189|45190|45191|45192|45193|45194|45195|45196|45197|45198|45199|45200|47217|47233|48362|50289|50291|50293|50294|102143|102144|102146|102147|136488|138379|138380|139876|139877|139878|139879|139880|139881|139882|139883|171148|171149|177834|181216|181217|186154|186155|186156|186157|186158|186159|195774|197513|197518|197519|197521|197524|197525|197527|197528|197530|197531|197533|197538|197539|197541|197542|197545|197546|197547|197548|197549|197550|197552|197555|197557|197558|197559|197562|197564|197568|212930|212931|212932|212933|212934|212935|212936|212937|212938|212939|212940|212941|212942|212943|212944|212945|212946|212947|212948|212949|212950|212951|222152|222153|222155|222156|222157|222158|222159|222160|222161|222163|222164|222165|222166|241167|241168|241169|241170|241171|241172|241173|241175|241176|241177|241178|241179|241180|241181|241182|241183|241184|241185|241186|241187|241188|241189|241190|241191|241192|241193|241194|241195|241196|241197|241198|241199|241200|241201|241202|241203|241204|254243|254244|259994|259996|259997|259998|259999|260000|260001|260002|264436|264443|314541|314543|314544|314549|314551|321250|321251|327382|327391|327398|327399|328432|328438|328445|328454|328456|328457|358841|371565|371566|372280|372506|390089|397583|398007|398266|398267|398272|398274|398276|398283|398284|398291|398294|398299|398300|398303|398317|398320|398322|398324|398330|398338|398350|398351|398354|398357|398359|398365|398372|398376|398380|398381|398396|398397|398401|398407|398408|398411|398415|398421|398422|398425|398426|398442|398702|398704|398707|398708|398711|398712|398713|398717|398719|398730|398733|398737|398739|398740|398743|398744|398749|398750|398752|398764|398807|398810|398814|398838|398839|398852|398854|398857|398859|398864|398872|398875|398877|398878|398892|398893|398894|408406|408410|415286|419780|419783|419786|419787|419790|419794|419802|419804|419810|419813|419815|419823|419824|419828|419830|419835|419842|419843|419848|419852|419858|419861|419864|419865|421872|433092|434509|444850|444851|444854|444855|461257|461259|461263|461265|461267|461268|461271|461273|461275|461278|461282|461283|461284|461286|461303|461306|461314|461315|461319|461327|461450|461453|461456|461459|461462|461464|461475|461476|461480|461484|461486|461494|461783|461785|461787|461789|461791|461797|461799|461805|461808|461810|461816|461822|461830|461840|461843|461845|461846|461847|461849|461852|461854|462110|462111|462113|462114|462115|462121|462127|462128|462140|462149|462150|462159|462160|462165|462168|462175|462178|462183|462185|462189|462206|475979|475981|475985|475986|476005|476009|476307|476312|476313|476466|476473|476476|476481|514012|525678|526328|526329|526333|526334|526336|526339|526345|526346|526358|526361|526365|526367|526368|526370|526372|526373|526374|526375|526376|526378|526381|526382|526383|526385|526386|526389|526391|526392|526394|526397|526403|526405|526407|526410|526414|526419|526427|526588|526589|526590|526591|526594|526603|526609|526611|526612|526616|526624|526627|526629|526631|526636|526641|526649|526654|526655|526657|526668|526670|526677|526678|526681|526866|526870|526872|526873|526877|526879|526880|526883|526885|526898|526903|526904|526907|526909|526914|526916|526919|537877|537878|539301|539302|539303|539304|564808|564819|564822|564825|564826|564830|564835|564836|564839|564841|564843|564845|565968|565970|565972|565973|565975|565979|565990|565993|565995|566003|566004|566009|566024|566025|566027|566029|566031|566032|566040|567415|567417|567422|567425|567426|567431|567433|567439|567440|567442|567445|567446|567449|570769|570777|570781|570784|570785|570788|570799|570807|575577|575853|575854|575855|575856|575857|612191|640254|640255|640256|640257|640258|640259|640260|640261|640262|640263|640264|640265|640266|640267|640268|640269|640270|640271|640272|640273|640274|640275|640276|640277|640278|640279|640280|640281|640282|640283|640284|640285|640286|640287|640288|640289|640290|640291|640292|640293|640294|640295|640296|640297|640298|640299|640300|640301|640302|640303|640304|640305|640306|640307|640308|640309|640310|640311|640312|640313|640314|640315|640316|640317|640318|640319|640320|652225|652340|652380|652580|652582|652585|652589|652591|687806|687809|693079|693081|724572|738106|752777|752778|752779|752780|752782|759919|768563|768571|768575|768576|768583|784068|784071|784072|784078|791150|791151|791152|799656|799657|799658|810804|810811|810819|810822|810823|810824|810828|810831|810842|810849|815507|820400|820401|820402|820403|838705|838706|838707|838708|838709|838710|838711|838712|838713|838714|838715|838716|838717|838718|838719|838720|838721|838722|838723|838724|838725|838726|838727|838728|838729|838730|838731|838732|838733|838734|838735|838736|838737|838738|838739|838740|838741|838742|838743|838744|838745|838746|838747|838748|838749|838750|838751|838752|838753|838754|851445|851447|851887|851889|851891|851893|851895|852379|852380|852621|868255|868256|868257|868258|868259|868260|868261|868262|868263|905928|906186|919378|926320|926321|926322|926323|926324|926325|926326|926327|926328|926329|926330|926331|926332|926333|926334|926335|926336|926337|926338|926339|926340|926341|935665|935666|935667|935668|935669|935670|935671|935672|935673|935674|935675|935676|935677|935678|935679|935680|935681|935682|935683|935684|935685|935686|940227|941005|947561|947562|947563|947564|947565|947566|947567|947568|947569|947570|947571|947572|947573|947574|947575|947576|947577|947578|947579|947580|956579|956580|956581|956582|956583|956584|956585|956586|960002|960003|964673|970940", + "text": "Multiple endocrine neoplasia, type 1" + }, + { + "baseId": "28948|28949|28955|28956|28957|28958|28967|28968|28970|28972|28975|28977|28986|28987|28990|36221|36224|36228|36242|36249|36261|36280|36284|36293|36296|36298|38399|47198|47215|47217|47233|50281|50282|50283|136461|136475|138916|138917|138919|138920|138926|138928|139806|139808|139809|139812|139822|139823|139828|139830|139832|139834|139835|171124|171125|182944|182945|182950|182955|182958|186115|186117|212766|212775|212787|221950|221952|221961|221967|221970|221972|221977|240788|240791|240795|240811|321368|358819|358820|358821|358822|358823|358824|358825|358826|358827|358828|358829|358830|358831|358832|525640|919267|919268|919269|967151|974878", + "text": "Multiple endocrine neoplasia, type 2b" + }, + { + "baseId": "28948|28955|28956|28957|28958|28968|28970|28972|28975|28990|36222|36224|36242|36249|36257|36272|36284|36301|47217|47233|54283|363191|363192|363193", + "text": "Medullary thyroid carcinoma" + }, + { + "baseId": "28954|28954|28955|28962|28975|28977|28983|28987|28991|36237|36246|36288|45384|50284|54761|101892|101893|133398|138927|171124|171125|171126|231108|514269|551710|590752|590753|590754|590755|590756|590757|590759|590760|590761|590966|590967|590968|590969|590970|590971|610667|672082|679030|679039|679042|679045|679054|679058|679061|679070|679071|679075|679080|679083|679085|679089|679092|679096|679097|679098|679099|679102|679105|679113|679121|679129|679130|679132|679133|679140|679160|679171|679172|679771|682630|683144|858654|858655", + "text": "Hirschsprung disease" + }, + { + "baseId": "28956", + "text": "Thyroid carcinoma" + }, + { + "baseId": "28958", + "text": "Thyroid carcinoma, sporadic medullary" + }, + { + "baseId": "28969", + "text": "MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA" + }, + { + "baseId": "28972|28973", + "text": "MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE" + }, + { + "baseId": "28975|28977|28985|28986|28993|28994|36221|36228|36230|36269|36275|36287|36305|45384|50278|50282|50284|50285|50293|101890|101891|101892|136461|136472|138916|138926|139807|139815|139817|139819|139827|139828|139830|139833|139835|171125|182944|182948|182956|182958|186117|186118|212767|212783|212784|212794|212930|213771|221946|240788|240790|240797|240802|271973|310269|310270|310276|310292|310293|310301|310303|310308|310309|310315|310324|310330|310333|310334|310337|314528|314532|314540|314552|315391|315392|315393|315394|315397|315398|315399|315400|315401|315409|315411|315412|315418|315419|316327|316346|321246|321368|321369|321370|321384|321385|321388|321398|321411|321412|321414|321415|321417|321419|321420|321423|322063|322066|322067|322068|322098|322103|322120|322121|322125|322128|322139|322140|322141|322142|322151|322153|322160|322161|322168|323758|327388|327389|327400|328439|331128|353127|353128|353220|358824|358829|397269|397444|397680|397699|459817|460008|460025|460251|460316|460325|460677|460686|475107|525176|539281|569630|569655|836830|865863|865864|865865|865866|865867|865868|865869|865870|865871|865872|865873|865874|865875|865876|865877|865878|865879|865880|865881|865882|868471|868472", + "text": "Multiple endocrine neoplasia" + }, + { + "baseId": "28984", + "text": "MEN2 phenotype: Unclassified" + }, + { + "baseId": "28987", + "text": "Central hypoventilation syndrome, congenital, with hirschsprung disease" + }, + { + "baseId": "28988", + "text": "MEN2 phenotype: Unknown" + }, + { + "baseId": "28993", + "text": "Hirschsprung disease, protection against" + }, + { + "baseId": "28996|28996|28997|28998|28999|49044|49045|49046|49047|49048|49055|49056|49064|49072|49075|49076|49079|49081|49084|49089|49091|49095|49096|49097|49098|49100|49101|53790|53797|125840|173746|173883|173889|179046|221364|259750|288551|288552|288556|288557|289314|289320|289321|289324|289332|292325|292338|292352|292354|292462|292470|292475|425523|442524|451825|452141|487033|500278|500494|816448|887836|887837|887838|887839|887840|887841|887842|887843|887844|887845|887846|887847|887848|887849|887850|887851|887852|887853|887854|887855|966789", + "text": "Noonan syndrome 5" + }, + { + "baseId": "28996|28996|28999|49044|49045|49046|49047|49048|49055|49056|49075|49079|49081|49083|49091|49095|49096|49097|49098|49100|49101|53790|53797|53800|173746|173883|173889|179046|179055|221364|259750|288551|288552|288556|288557|289314|289320|289321|289324|289332|292325|292338|292352|292354|292462|292470|292475|425523|442524|451825|452141|487033|500278|500494|790324|887836|887837|887838|887839|887840|887841|887842|887843|887844|887845|887846|887847|887848|887849|887850|887851|887852|887853|887854|887855|918797|966789", + "text": "LEOPARD syndrome 2" + }, + { + "baseId": "28996|49075|152010|152012|152013|179044|179046|425523|487033", + "text": "Cardiomyopathy, dilated, 1NN" + }, + { + "baseId": "29000|235242|243608|612016", + "text": "Papillary thyroid carcinoma" + }, + { + "baseId": "29000", + "text": "Astrocytoma, low-grade, somatic" + }, + { + "baseId": "29000", + "text": "Germ cell tumor, nonseminomatous" + }, + { + "baseId": "29000|236444|362948|363046", + "text": "Colonic neoplasm" + }, + { + "baseId": "29000", + "text": "Cystic epithelial invagination containing papillae lined by columnar epithelium" + }, + { + "baseId": "29000|362820", + "text": "Trametinib-Dabrafenib Response" + }, + { + "baseId": "29000|362820", + "text": "Vemurafenib-Cobimetinib Response" + }, + { + "baseId": "29004|29012|29012|29013|29014|29015|29016|29017|29018|29019|29020|29020|38760|38762|38762|38762|48807|48817|48842|48843|48849|48854|48857|49239|53966|53978|53985|174176|175716|198628|264307|359646|359799|363168|537817|552584|790700|790701|790702|790703|790704|790705|919082|919083|919084|920237|964283|965456", + "text": "Cardiofaciocutaneous syndrome 1" + }, + { + "baseId": "29008|29012|29012|29020|38760|38760|38761|38762|38762|38763|48803|48805|48807|48817|48830|48832|48833|48861|48869|49883|49885|53955|53966|53966|53976|53978|53992|53994|137459|140239|174040|301991|302003|309876|310006|310007|359646|359799|395820|494963|496489|501861|552584|578455|654129|897546|897547|897548|897549|897550|897551|897552|897553|897554|897555|897556|897557", + "text": "Noonan syndrome 7" + }, + { + "baseId": "29012|29020|38760|38762|38762|38762|48803|48805|48807|48817|48817|48830|48832|48833|48861|48869|49883|49885|53955|53966|53976|53978|53992|53994|137459|140239|174040|301991|302003|309876|310006|310007|359646|359799|395820|494963|496489|501861|552584|897546|897547|897548|897549|897550|897551|897552|897553|897554|897555|897556|897557", + "text": "LEOPARD syndrome 3" + }, + { + "baseId": "29017", + "text": "Familial cardiofaciocutaneous syndrome" + }, + { + "baseId": "29019|360041|621022|621029|621030", + "text": "Genetic syndrome with a Dandy-Walker malformation as major feature" + }, + { + "baseId": "29019", + "text": "Tethered cord" + }, + { + "baseId": "29019", + "text": "PHACE syndrome" + }, + { + "baseId": "29019|181451|249186|360041|362521|419008|419011|538282|590021|621019|621022|621029|621030|621032|965915|980695|980696", + "text": "Dandy-Walker syndrome" + }, + { + "baseId": "29022|789168", + "text": "Proteus syndrome" + }, + { + "baseId": "29022", + "text": "Meningeal Neoplasms" + }, + { + "baseId": "29022|152509|362957|363226|363232", + "text": "Prostate neoplasm" + }, + { + "baseId": "29022|48662|48663|137193|137194|222360|222361|222362|241781|241782|241783|241784|241785|241786|241787|241788|241789|241790|241791|241792|241793|241794|399550|399555|399560|399561|399660|399666|399671|399672|399674|399676|399678|399680|399685|399688|399692|399701|399703|400089|400091|400268|400269|400272|400276|400279|463114|463116|463565|463568|463569|463574|463575|463578|463863|463866|463869|463872|464062|464068|464070|464078|464079|464083|464090|464091|490094|504954|527961|528007|528011|528012|528018|528020|528027|528028|528352|528354|528357|528366|528368|528467|528469|528474|528480|528481|528488|528490|567840|567841|567852|567855|572691|572696|572705|572715|572717|572718|572722|572735|575930|575931|575932|642178|642179|642180|642181|642182|642183|642184|642185|642186|642187|642188|652581|652901|652902|652907|684465|685394|688245|688246|688247|688248|688249|688252|688253|690076|693447|693449|693450|695612|702779|725583|769700|791384|820598|841139|841140|841141|841142|841143|841144|841145|841146|841147|841148|841149|841150|841151|841152|841153|851985|926975|926976|926977|926978|936535|936536|936537|940298|940299|941056|948453|948454|948455|948456|948457|948458|948459|960078", + "text": "Cowden syndrome 6" + }, + { + "baseId": "29023|29024|29757", + "text": "Diabetes mellitus, type 1, susceptibility to" + }, + { + "baseId": "29025|29026|301785|301796|301797|301798|301799|301801|301802|301808|301809|301813|301816|301817|301818|301824|301825|304949|304950|304951|304954|304956|304970|304978|309593|309599|309601|309602|309603|309604|309629|309630|309638|309639|309640|309645|309654|309657|309658|309780|309781|309784|309785|309786|309790|442478|735933|897356|897357|897358|897359|897360|897361|897363|897365|897367|897368|897369|897370|897371|897372|897373|897374|897376|897377|897379|897380|897382|897384|897387|897388|897389|897391|897392|897394", + "text": "Leptin deficiency or dysfunction" + }, + { + "baseId": "29027|29028|29029|29030|29031|29032|29033|29034|29035|29036|142432|142433|320249|320254|320258|320261|320264|320270|320271|328777|328781|328783|328786|328796|328798|328800|328812|328814|328815|328829|328837|328851|335434|335442|335444|335445|335459|337295|337304|337308|337310|337311|337315|337318|337323|337324|337325|373716|375911|421973|439296|445186|463876|497661|513342|528033|528374|528494|528495|566289|567860|567862|567863|568732|572739|624472|642189|642190|642191|642192|642193|739159|769715|841154|841155|841156|841157|841158|841159|871672|871673|871674|871675|871676|871677|871678|871679|871680|871681|871682|871683|871684|871685|872356|872357|926979|936538|936539|948460", + "text": "Purine-nucleoside phosphorylase deficiency" + }, + { + "baseId": "29031", + "text": "NUCLEOSIDE PHOSPHORYLASE POLYMORPHISM" + }, + { + "baseId": "29037|216786|216787|216788", + "text": "Myelodysplastic syndrome progressed to acute myeloid leukemia" + }, + { + "baseId": "29041|132071|132072|132073|251790|251792|295574|295575|295576|295580|295587|295608|295609|295611|295621|295624|295629|295631|295634|295636|295640|295645|297367|297373|297380|297383|297384|297391|297393|297396|297397|297398|297402|297403|297408|297410|297414|297416|297417|297418|297420|297422|297430|301196|301243|301247|301250|301251|301252|301254|301257|301258|301259|301271|301290|301296|301297|301431|301434|301435|301437|301448|301458|301461|301462|301471|301473|301474|301475|301478|301481|301482|301483|454639|454644|454646|454706|454707|455446|455449|520789|520793|521041|521219|560163|560165|560167|562858|562861|564791|564799|564804|633476|633477|633478|633479|633480|633481|633482|633483|691755|695276|698818|698819|698821|709651|734871|734872|734873|749252|749253|749254|764913|777511|782185|830352|830353|830354|830357|830358|830359|830360|830361|830362|893089|893090|893091|893092|893093|893094|893095|893096|893097|893098|893099|893100|893101|893102|893103|893104|893105|893106|893107|893108|932729|932730|944417|954052|960554", + "text": "Amyotrophic lateral sclerosis 21" + }, + { + "baseId": "29042|29043|29044|320464|320465|320466|320468|320471|320475|320482|329238|329242|329255|329256|329257|329260|335859|335860|335861|335863|335864|337761|337777|337780|337782|337786|463733|464036|528122|528157|528492|528497|528629|568024|568029|568031|568865|572781|581247|581248|581249|581250|581251|581252|642353|642354|642355|652343|702862|739201|754028|754029|754031|784716|784717|841363|841364|841365|841366|841367|841368|841369|841370|871836|871837|871838|871839|871840|871841|871842|871843|871844|927027|927028|927029|927030|936598|936599|948536|957202", + "text": "Ectodermal dysplasia and immunodeficiency 2" + }, + { + "baseId": "29045|325808|325809|325811|325817|325821|335429|335436|341880|341881", + "text": "Orthostatic intolerance" + }, + { + "baseId": "29046|29046|29047|29050|102896|171811|294660|519673|632527|651126|691638|698680|698681", + "text": "Parkinson disease 1" + }, + { + "baseId": "29048", + "text": "Parkinson disease 4" + }, + { + "baseId": "29051", + "text": "Pyloric stenosis, infantile hypertrophic 1" + }, + { + "baseId": "29053|32105", + "text": "Malaria, severe, resistance to" + }, + { + "baseId": "29054|29055", + "text": "Coronary artery spasm 1, susceptibility to" + }, + { + "baseId": "29054", + "text": "Hypertension, pregnancy-induced, susceptibility to" + }, + { + "baseId": "29054", + "text": "Hypertension resistant to conventional therapy" + }, + { + "baseId": "29054", + "text": "Ischemic heart disease, susceptibility to" + }, + { + "baseId": "29056|29057|29058", + "text": "Glaucoma 1, open angle, O" + }, + { + "baseId": "29056|132600|132601|512663|538511|553406|583137|611450|805130|920021|920022|961359|971205|976685", + "text": "Mental retardation, X-linked 99" + }, + { + "baseId": "29059|29060|29061|29062|250163|359373|427881|516338|516339|516353|559204|612558|628443|628444|628445|628446|628447|650782|707732|719261|732771|746776|762184|780829|794771|819047|824755|824756|824757|824758|922238|930799|942229|961927", + "text": "Warts, hypogammaglobulinemia, infections, and myelokathexis" + }, + { + "baseId": "29059", + "text": "Myelokathexis, isolated" + }, + { + "baseId": "29063", + "text": "NEUROPEPTIDE Y POLYMORPHISM" + }, + { + "baseId": "29064|29065|76986|76987|181582|291881|291882|291883|293276|293277|293279|293285|293291|296542|296545|296546|296567|296568|296569|296596|296599|296600|367744|406379|428249|438891|443537|500660|500982|576771|620770|720701|734383|806427|889835|889836|889837|889838|889839|889840|889841|889842|889843|889844", + "text": "Hypogonadotropic hypogonadism 11 with or without anosmia" + }, + { + "baseId": "29066", + "text": "Hypogonadotropic hypogonadism 10 without anosmia" + }, + { + "baseId": "29068", + "text": "Peripheral demyelination" + }, + { + "baseId": "29068|361106", + "text": "Hand muscle atrophy" + }, + { + "baseId": "29068|29215|213789|270687|275542|360799|361080|361106|514010", + "text": "Distal muscle weakness" + }, + { + "baseId": "29068|29215|361106", + "text": "Decreased nerve conduction velocity" + }, + { + "baseId": "29068|29215|360953|361106|361106|969265|972893", + "text": "Pes cavus" + }, + { + "baseId": "29068|39536|360954|361106|513931|677219", + "text": "Distal lower limb muscle weakness" + }, + { + "baseId": "29068|29069|29073|38758|49660|49660|49661|49662|49663|77570|77573|77578|77583|77590|77592|212633|221757|231697|304959|304983|304984|305007|308667|308670|308671|308698|308700|308702|308708|313844|313846|313921|313922|313923|313931|313938|662832|676963|899361|899362|899364|899365|899366|899367|899368|899369|899370|899371|899372|899373|899374|899375|899376|899377|899378|899379|919147|919148", + "text": "Charcot-Marie-Tooth disease, demyelinating, type 1f" + }, + { + "baseId": "29075|29076|29077|29078|29080|298389|298390|298394|298395|298401|298402|298403|298407|298408|298415|298417|298418|300698|300699|300709|300710|300711|300726|300728|300729|300730|300733|300735|300740|300741|300742|300750|300756|305090|305097|305100|305102|305104|305111|305113|305114|305127|305129|305130|305136|305138|305139|305140|305239|305243|305244|305251|305252|305253|305264|305265|425653|428471|721598|790570|798563|798564|894996|894997|894998|894999|895000|895001|895002|895005|895006|895007|895008|895009|895012|895013|895015|895017|895018|895019|895020|895021|895022|895023|895024|895025|895026|895027|895028|895029|895030|895032|896162|896163|983657", + "text": "Proprotein convertase 1/3 deficiency" + }, + { + "baseId": "29079", + "text": "Body mass index quantitative trait locus 12" + }, + { + "baseId": "29081|48109|177889|551571|612304", + "text": "Retinitis pigmentosa 27" + }, + { + "baseId": "29082|29083", + "text": "Retinal degeneration, autosomal recessive, clumped pigment type" + }, + { + "baseId": "29084|38757|244182|244183|244184|275970|275971|276175|276184|276303|276306|276307|276443|276444|276445|364307|364372|446990|446993|447079|447084|447092|447096|447097|447150|447168|447175|447178|447184|514984|514989|514991|514992|514993|515032|515036|515040|515057|556560|556593|556857|556988|624883|626662|626663|626664|626665|626666|626667|626668|626669|626670|626671|626672|626673|690348|761095|761096|761097|780278|792667|822577|822578|822579|822580|822581|822582|822583|822584|862012|862013|862014|921599|929983|929984|929985|941396|952026|952027", + "text": "Congenital sensory neuropathy with selective loss of small myelinated fibers" + }, + { + "baseId": 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+ "text": "Nemaline myopathy 2" + }, + { + "baseId": "29092|29093|181494|296719|296720|296723|296724|296725|296737|298589|298593|298595|298602|298603|302717|302718|302727|302744|302778|302790|303018|303032|303035|303036|454853|455342|520965|520966|520976|521190|521192|521195|521196|521398|521468|521473|560241|560243|560354|564979|564981|620193|633684|633685|633686|633687|633688|698995|709789|734987|734988|744131|830576|830577|830578|830579|830580|830581|893762|893763|893764|893765|893766|893767|893768|893769|893770|893771|893772|893773|893774|893775|893776|893777|893778|893779|923969|932816|932817|939998|944508|944509|944510|954100", + "text": "Immunodeficiency 29" + }, + { + "baseId": "29094", + "text": "Asthma, severe, susceptibility to" + }, + { + "baseId": "29095|29096|29098|314909|359994|626209|788853|964848", + "text": "Mitochondrial complex 1 deficiency, nuclear type 4" + }, + { + "baseId": "29100|29101|29102|40437|40440|52289|52291|52299|52300|173797|173798|173800|179061|229099|291667|294871|295253|295255|295257|576329|889125|889126|889127|889128", + "text": "Familial hypertrophic cardiomyopathy 8" + }, + { + "baseId": "29103|29104|29105|29106|29107|40426|40428|40431|40432|45305|45307|45308|45309|52627|52628|52630|52633|52634|52636|52638|52639|52640|52641|52642|52643|52644|52645|52646|52647|52648|52650|136725|142102|165570|175387|175390|175392|175532|175537|175538|179423|179424|179425|179426|179427|179430|179432|179433|179436|179437|179438|179439|189892|214121|215442|224436|241238|258711|258712|316034|316035|316036|329386|329400|329402|330565|372551|374583|389976|390072|398419|398437|398525|398830|398957|408523|415321|424565|438508|461609|461616|462181|462187|462412|462414|462418|508870|526673|526675|526680|526684|526918|527233|527238|527248|565053|566320|567664|567667|615035|615039|617889|617890|640634|640635|640636|640637|640638|652398|666512|685303|687879|791194|791195|799665|839314|839315|839316|839317|839318|839319|839320|839321|852655|869283|869284|869285|869286|869287|869288|872191|911909|926465|926466|935918|935919|956747|960774", + "text": "Familial hypertrophic cardiomyopathy 10" + }, + { + "baseId": "29103", + "text": "MYL2-Related Disorders" + }, + { + "baseId": "29104|75310|78586", + "text": "Death in early adulthood" + }, + { + "baseId": "29108|29109|255284|552183|583124|791476", + "text": "Griscelli syndrome type 1" + }, + { + "baseId": "29111|29112|29113|29114|29115|29116|29117|29118|29119|29120|29121|29122|29123|29124|29125|47567|47568|47569|47570|53729|53734|176268|176270|176394|176408|201017|351526|432343|434682|497536|513148|590338|590339|623356|818346|818347|818348|919951|921221", + "text": "Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss" + }, + { + "baseId": "29111|29112|29113|29114|29117|29120|29121|29122|47569|47570|53715|53716|53717|53718|53719|53720|53721|53722|53723|53724|53725|53726|53727|53728|53729|53730|53732|53733|53734|53736|53737|53738|53739|53740|176254|176256|176257|176259|176260|176265|176267|176268|176269|176271|176272|176273|176277|176282|176286|176372|176380|176386|176388|176392|176395|176396|176401|176402|176404|176408|201017|231139|231148|231149|231155|231161|231162|231165|231168|231169|231170|231171|257619|257621|257641|257647|257658|274300|338000|338001|338003|338006|338008|338013|338018|338019|338024|338026|338028|338030|338034|338041|338057|338058|338060|338062|338063|338064|338068|347647|347648|347652|347653|347654|347658|347663|347670|347671|347672|347674|347676|347678|347681|347682|347683|347685|347686|347690|347691|347692|347697|347698|347707|351511|351512|351513|351515|351518|351523|351524|351526|351527|351529|351531|351534|351535|351536|351541|351551|351553|351555|352497|352498|352499|352500|352501|352502|352503|352504|352505|352506|352507|352508|352509|352510|352511|352512|352513|352514|352515|352516|352517|352518|353606|353607|363895|379851|497760|497763|514108|612057|612058|612059|612060|612061|612062|612063|612064|612065|612066|612067|612068|612069|612070|612071|612072|612073|612074|615654|615655|615657|615659|615662|620688|672115|760982|818346|891201|891202|891203|891204|891205|891206|891207|891208|891209|891210|891211|891212|891213|891214|891215|891216|891217|891218|891219|891220|891221|891222|891223|891224|891225|891226|891227|891228|891229|891230|891231|891232|891233|891234|891235|891236|891237|891238|891239|891240|891825|891826|891827|891828|891829|891830", + "text": "MYH9-related disorder" + }, + { + "baseId": "29118|29122|47570|53715|53716|53717|53718|53719|53720|53721|53722|53723|53724|53725|53726|53727|53728|53729|53730|53732|53733|53734|53736|53737|53739|53740|176254|176256|176257|176259|176260|176265|176267|176268|176269|176271|176272|176273|176277|176282|176286|176372|176380|176386|176388|176392|176394|176395|176396|176401|176402|176404|176408|176408|231139|231148|231149|231155|231161|231162|231165|231168|231169|231170|231171|257619|257621|257641|257647|257658|274300|338000|338001|338003|338006|338008|338013|338018|338019|338024|338026|338028|338030|338034|338041|338057|338058|338060|338062|338063|338064|338068|347647|347652|347653|347654|347658|347663|347670|347671|347672|347674|347676|347678|347681|347682|347683|347685|347686|347690|347691|347692|347697|347698|351511|351512|351513|351518|351523|351524|351526|351527|351529|351531|351534|351535|351536|351541|351551|351553|352497|352498|352499|352500|352501|352502|352503|352504|352505|352506|352508|352509|352511|352512|352513|352515|352516|352518|379851|497536|497760|497763|513667|615654|654931|760982|818346|891201|891202|891203|891204|891205|891206|891207|891208|891209|891210|891211|891212|891213|891214|891215|891216|891217|891218|891219|891220|891221|891222|891223|891224|891225|891226|891227|891228|891229|891230|891231|891232|891233|891234|891235|891236|891237|891238|891239|891240|891825|891826|891827|891828|891829|891830", + "text": "Autosomal dominant nonsyndromic deafness 17" + }, + { + "baseId": "29153|29156|29162|45303|45929|51986|51987|51989|51991|51993|51999|52023|52033|52034|52038|52039|52043|52056|52064|52066|52070|52101|52108|52111|52112|52114|52115|52116|52119|52122|52123|52126|52127|52140|52147|52150|52151|52153|52165|52168|52171|52177|52182|52194|52197|52202|52207|52208|52226|52242|52243|52252|52254|52261|52262|52273|52286|52287|142081|142083|142090|142091|142094|175443|175446|175448|175452|175513|175516|175586|175588|175606|178672|179466|179471|179522|179525|179526|179598|179680|179712|186460|186481|189951|213631|224471|254932|258801|258803|258808|320364|320370|320374|320376|320377|320379|320380|328973|328975|328980|328987|328990|328992|328994|328997|329003|335627|335628|335630|335631|335634|335643|335644|335647|335648|335649|337446|337452|337457|337458|337463|337467|337469|337478|337484|337486|353295|400159|463977|504491|528125|528424|624478|656238|688269|841243|841286|851989|871732|871733|871734|871735|871736|871737|871738|871739|872363|872364|872365|964412|964413|974522", + "text": "Myosin storage myopathy" + }, + { + "baseId": "29153|175452|179576|213631", + "text": "MYH7-related late-onset scapuloperoneal muscular dystrophy" + }, + { + "baseId": "29154|29161|45303|45929|51262|51986|51987|51989|51991|51993|51999|52023|52033|52034|52038|52039|52043|52056|52064|52066|52070|52101|52108|52111|52112|52114|52115|52116|52119|52122|52123|52126|52127|52140|52147|52150|52151|52153|52165|52168|52171|52177|52182|52190|52193|52194|52197|52202|52207|52208|52226|52239|52242|52243|52252|52254|52258|52258|52261|52262|52273|52286|52287|142081|142083|142090|142091|142094|152927|152928|152929|152930|152931|152932|152933|152934|152935|152936|152936|152937|171164|175443|175446|175448|175513|175516|175586|175588|175606|175630|178672|179466|179471|179522|179525|179576|179598|179680|179712|186460|186481|188227|188229|188230|188231|188232|188233|188234|188235|189951|213631|224471|254932|258801|258803|258808|320364|320370|320374|320376|320377|320379|320380|328973|328975|328980|328987|328990|328992|328994|328997|329003|335627|335628|335630|335631|335634|335643|335644|335647|335648|335649|337446|337452|337457|337458|337463|337467|337469|337478|337484|337486|353295|400159|463977|504491|528424|553353|624478|656238|688269|802192|841243|841286|851989|871732|871733|871734|871735|871736|871737|871738|871739|872363|872364|872365", + "text": "Myopathy, distal, 1" + }, + { + "baseId": "29159|514040", + "text": "Chest pain" + }, + { + "baseId": "29160|175443|175588|179477|179680", + "text": "Myopathy, myosin storage, autosomal recessive" + }, + { + "baseId": "29162|29165|29166|29167|76983|76984", + "text": "Left ventricular noncompaction 5" + }, + { + "baseId": "29166|45110|45111|45112|45545|45929|51429|51431|51440|51710|51741|51883|51927|51933|51987|51989|51993|51999|52023|52033|52034|52070|52101|52112|52114|52115|52119|52126|52127|52147|52150|52153|52165|52177|52197|52202|52207|52208|52239|52242|52252|52254|52262|52273|52286|52782|52785|52786|52790|52801|52810|52820|52821|52826|52838|53044|53047|53049|54073|55012|55787|56974|78578|100361|136674|141809|142081|142083|142094|153685|165564|165600|172177|173313|173631|174793|174800|174866|175036|175577|175584|175588|175606|178464|178472|178490|178517|178558|178560|178618|178631|178681|178755|178927|178930|179285|179395|179598|179668|179712|179745|186358|186460|186481|189951|197080|197106|198042|198264|224185|224196|224217|224218|224235|224273|224310|224327|224396|224399|224459|224465|224469|224471|224478|224505|224515|224562|224587|229942|278453|278454|278568|279751|279841|311447|311448|311449|314279|314281|314284|314287|314289|314290|317037|317039|317042|320364|320370|320374|320376|320377|320379|320380|320886|320887|320892|320893|322278|322281|322290|322292|322305|322315|322319|322320|322321|323019|323021|323578|323593|323602|323607|323616|326925|326939|326941|326942|326951|327968|327969|327974|327975|328973|328975|328987|328990|328992|328994|328997|329003|331229|331578|331581|331583|331587|331597|331610|331619|331628|331630|331646|335627|335628|335630|335631|335634|335643|335644|335647|335649|337446|337452|337457|337458|337467|337469|337478|337484|337486|338527|338558|338582|338583|338588|338608|338610|338614|338623|339057|340274|340279|340282|340299|340308|340311|340314|340316|340327|340328|340329|340336|340337|346985|347003|347004|347005|348271|352158|352159|352160|352795|352796|352797|353295|400327|445196|510655|514088|557779|610480|627513|630979|648593|677247|679526|679539|679542|679547|679548|679549|679552|679553|679557|679558|858254|957503|965310|980685", + "text": "Cardiomyopathy, left ventricular noncompaction" + }, + { + "baseId": 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+ "text": "Aortic aneurysm, familial thoracic 4" + }, + { + "baseId": "29175|227384|384618|622438|919699|919700", + "text": "Carney complex variant" + }, + { + "baseId": "29175|135116|135117|135118|135119|135120|135121|135122|135123|135124|135125|135126|135127|208334|208337|208338|227384|256016|256021|256022|327061|327065|327077|327079|327084|327085|327086|327090|327092|327093|327094|327098|327102|336968|336970|336974|336978|336979|336982|336986|336987|336990|336992|336995|343188|343189|343194|343195|343200|343203|343204|343208|343209|343210|343213|343214|343221|344821|344822|344831|344833|344835|384618|438784|620568|620569|620570|620882|622438|703933|703934|715215|715218|715220|726970|755591|755594|876354|876355|876356|876357|876358|876359|876360|876361|876362|876363|876364|876365|876366|876367|876368|876369|876370|876371|876372|876373|876374|876375|876376|876377|876378|876379|876380|876381|876382|876383|876384|876385|876386|876387|876388|876389|876746|876747|876748|971064", + "text": "Hecht syndrome" + }, + { + "baseId": "29176|181560|181561|181562|181563|181564|181565|181566|181567|192137|192677|192678|192853|192930|193058|193059|193196|194581|205184|205299|227385|256024|256025|256027|256029|256032|256034|256036|256038|256039|265906|267454|269075|269222|269609|271544|274167|275404|327105|327107|327109|327112|327113|327136|327144|327148|327149|327153|327168|327169|327171|327178|327184|336998|337000|337004|337016|337018|337022|337024|337027|343223|343229|343231|343233|343238|343240|343250|344841|344844|344849|344852|344853|360216|361226|409821|413457|426200|439223|445692|466308|466310|466313|466314|466318|466320|466331|466337|466340|467066|467071|467080|467081|467085|467087|467182|467185|467204|467208|467212|467220|467232|467251|467256|467258|467264|467270|467272|467384|467388|467396|467398|467402|467403|467408|490598|490957|491238|491762|530559|530560|530566|530567|530568|530681|530686|530693|530709|530716|530725|530727|530738|530740|530862|530864|530865|531052|531057|531069|531070|531075|531077|568683|568686|568687|570728|570729|570731|570752|570753|570755|570846|570848|570851|570854|570856|570857|570861|574246|574283|574285|574287|574289|574294|574295|574296|574297|574298|574299|574300|574301|576177|608967|613495|624069|645272|645273|645274|645275|645276|645277|645278|645279|645280|645281|645282|645283|645284|645285|645286|645287|645288|645289|645290|645291|645292|645293|645294|645295|645296|645297|645298|645299|645300|645301|645302|645303|645304|645305|645306|645307|645308|652683|652697|652877|652880|653185|653200|653204|694008|694010|694011|694012|694014|694015|694016|694017|694018|695724|703937|703938|703939|703940|715224|715225|740550|740552|740554|755597|771242|771244|785464|791672|793655|820979|820980|821179|844669|844670|844671|844672|844673|844674|844675|844676|844677|844678|844679|844680|844681|844682|844683|844684|844685|844686|844687|844688|844689|844690|844691|844692|844693|844694|844695|844696|844697|844698|844699|844700|844701|844702|844703|844704|844705|844706|852157|852159|852849|876390|876391|876392|876396|876397|876398|876400|876401|876402|876403|876404|876405|876406|876407|876408|876749|876751|918408|928050|928051|928052|928053|928054|928055|928056|928057|928058|928059|937712|937713|937714|937715|937716|937717|937718|937719|937720|937721|937722|949690|949691|949692|949693|949694|949695|949696|949697|949698|949699|949700|949701|949702|949703|949704|957978|957979|957980|957981|957982|964468|966356|977281", + "text": "Myopathy, proximal, and ophthalmoplegia" + }, + { + "baseId": "29177|29178|29179|29180|29184|135094|135095|135096|135097|135098|135099|135100|135101|135102|135103|135104|135105|135106|135107|135108|135109|135110|135111|135112|135113|208344|208345|208347|256045|256047|256051|256054|256055|256056|256057|256058|256059|256060|256061|256062|256063|256064|256069|256070|256075|327185|327186|327187|327191|327192|327199|327200|327201|327202|327209|327210|327215|327216|327221|327228|327231|327244|327245|327248|327252|327253|327254|327255|337030|337031|337032|337035|337043|337049|337052|337053|337054|337057|337065|337071|337078|337081|337082|337084|337085|337086|343251|343263|343264|343268|343270|343275|343278|343279|343283|343284|343289|343290|343292|343295|343302|343304|343305|343306|343310|343312|344858|344860|344863|344864|344865|344866|344867|344869|344872|344873|344875|344876|578665|682258|694024|694026|694027|694031|694032|694033|694038|694041|695727|703943|791673|791674|791675|876409|876410|876411|876412|876413|876414|876415|876416|876417|876418|876419|876420|876421|876422|876423|876424|876425|876426|876427|876428|876429|876430|876431|876752|876753|876754|876755|876756|876757|876758|876759|876760|876761|876762|876763|876764|876765|880462|962181", + "text": "Freeman-Sheldon syndrome" + }, + { + "baseId": "29179|29181|29182|29183|29184|327216|578660|619825|682259|682260|816488|919701|919702|919703|962181|971065", + "text": "Arthrogryposis, distal, type 2b3" + }, + { + "baseId": "29184|199883|199884|237491|495655|578537|578659|578660|578660|578661|578664|578665|578665|622708|622709|622710", + "text": "Contractures, pterygia, and variable skeletal fusions syndrome 1A" + }, + { + "baseId": "29185", + "text": "Myosin, cardiac, heavy chain variant" + }, + { + "baseId": "29186|29188|29190|29190|29191|38754|45289|45290|45291|45296|53613|53615|53616|53617|53620|53625|53626|53627|53628|53634|53636|53636|53637|53638|53639|53640|53641|53641|53642|53643|53644|53646|53648|53649|53651|53653|53654|53655|53656|53659|53660|53661|53663|53664|53666|53667|53669|53672|53673|53676|53678|53679|53680|53680|53682|53683|53684|53686|53687|53688|53689|53690|53691|53692|53696|53700|53702|53703|53704|53708|53709|53712|53713|165563|175410|175411|175412|175413|175414|175415|175416|175417|175419|175420|175424|175426|175429|175430|175433|175434|175436|175554|175557|175559|175560|175562|175563|175565|175565|175569|175571|175572|175573|175574|175575|175577|175581|175582|178666|178667|178668|189930|189930|189931|189932|189933|189935|189937|189938|189939|189944|189947|189947|193334|194136|222364|222365|224451|224452|224454|224455|224456|230458|230459|230461|230462|230463|230470|230474|230480|230481|230482|241796|241797|241798|241799|241800|241801|241802|241803|241804|241805|241806|241807|241808|241809|241810|241811|241811|241812|241813|241814|254914|258754|258757|258758|258759|258761|258764|258766|258772|258773|258774|258778|258779|258784|258788|260540|320333|320339|320340|320362|328940|328957|335565|335571|335573|335590|335595|335601|335616|335619|337427|337435|337435|360038|360038|373004|373724|373732|375945|375962|375975|399564|399570|399577|399579|399581|399588|399589|399594|399706|399713|399720|399725|399727|399729|399732|399735|399739|399741|399742|399748|400097|400098|400108|400118|400126|400282|400290|400298|400299|400308|400309|400311|409082|409088|409091|421976|424895|426052|426054|426055|426055|426056|463121|463124|463125|463132|463134|463141|463143|463144|463146|463148|463150|463580|463582|463583|463585|463590|463594|463602|463603|463607|463609|463618|463622|463635|463638|463714|463884|463893|463895|463900|463909|463911|463912|463918|463919|463921|463927|463935|464102|464104|464110|464118|464119|464121|464124|464128|464131|464136|480712|487619|487731|497662|504457|504712|504977|504980|510414|510416|510419|510420|510429|510430|510432|510436|510438|510440|510444|510449|510452|510455|510457|511013|511111|514040|527996|528000|528002|528008|528009|528015|528019|528021|528023|528044|528049|528051|528054|528055|528056|528062|528063|528066|528068|528375|528377|528379|528384|528386|528395|528396|528396|528405|528416|528501|528502|528508|528510|528514|528516|528519|528524|528528|528532|528534|528540|528541|566319|566322|566323|566327|566334|566335|566341|566352|567870|567875|567879|567883|568757|568768|568778|568781|568782|568788|572745|572747|572753|572755|572756|572757|572759|615062|615063|615066|642205|642206|642207|642208|642209|642210|642211|642212|642213|642214|642215|642216|642217|642218|642219|642220|642221|642222|642223|642224|642225|642226|642227|642228|642229|642230|642231|642232|642233|642234|642235|642236|642237|642238|642239|642240|642241|642242|642243|642244|642245|642246|642247|642248|642249|642250|642251|642252|642253|642254|642255|652457|652588|652909|684466|684467|684468|685397|688257|688259|690078|693459|702820|739172|753988|778051|784684|796997|797002|820616|841200|841201|841202|841203|841204|841205|841206|841207|841208|841209|841210|841211|841212|841213|841214|841215|841216|841217|841218|841219|841220|841221|841222|841223|841224|841225|841226|841227|841228|841229|841230|841231|841232|841233|841234|841235|841236|841237|841238|841239|841240|841241|841242|904588|917184|919516|919517|926987|926988|926989|926990|926991|926992|926993|926994|926995|936555|936556|936557|936558|936559|936560|936561|936562|936563|936564|936565|936566|936567|936568|941057|948484|948485|948486|948487|948488|948489|948490|948491|948492|948493|948494|948495|957179|957180|957181|957182|957183|957184|957185|957186|960084|960085|960801", + "text": "Familial hypertrophic cardiomyopathy 14" + }, + { + "baseId": "29187|53636|53640|53641|53680|175414|175565|189930|189947|241811|337435|360038|426055|528384|528396|680051", + "text": "Atrial septal defect 3" + }, + { + "baseId": "29189|29190|29191|53636|53640|53641|53680|175565|189930|189947|241811|258757|337435|360038|426055|528396", + "text": "Dilated cardiomyopathy 1EE" + }, + { + "baseId": "29192|429455|462474|462477|462478|462483|462739|462747|463216|463222|527345|565729|566276|572067|641394|840295|840296|840297|840298|936270|936271|936272", + "text": "Myopathy, centronuclear, 3" + }, + { + "baseId": "29193|29194|29195|29195|29196|29197|29197|29198|29199|29200|29201|29201|29203|138560|138561|138561|138564|138564|138566|138566|138567|138568|138568|138571|138571|138573|138573|138574|138574|138576|138576|138577|138577|138578|138578|139302|139302|139302|139303|139303|206802|206802|238283|238284|249935|249935|249937|249937|249938|249938|259670|259671|259671|280611|280612|280612|280613|280618|280620|280620|280621|280626|280633|281072|281085|281098|281111|281111|281129|281130|281131|281132|281134|281135|281136|281137|281138|282362|282363|282382|282383|282383|282387|282387|282391|282396|282399|282408|282416|282417|282418|282610|282612|282613|282614|282636|282657|282661|282675|282676|357085|357085|359248|391248|391248|427820|427821|427822|448099|448140|448238|515914|515914|516006|516006|516009|557065|557280|557282|558519|620001|621709|621709|627882|627882|627883|627884|627885|627886|650583|650664|683330|683330|683331|683331|685737|685737|685738|685738|685739|685740|685740|685741|685741|690606|696751|732458|761935|800986|800987|823992|823993|823993|823994|823995|823996|850971|861590|864454|864455|864456|864457|864458|864459|864460|864461|864462|864463|864464|864465|864466|864467|864468|864469|864470|864471|864473|864474|864475|906002|922030|922031|922032|922033|930495|941951|941951|971674|971675|971676|971677|971678|971679|971680|971681|971682|971683|971684|971685|977539|977540|977541|977542", + "text": "Congenital amegakaryocytic thrombocytopenia" + }, + { + "baseId": "29195|29197|29201|138561|138564|138566|138567|138568|138571|138573|138574|138576|138577|138578|139302|139303|206802|249935|249937|249938|259670|259671|280612|280620|281111|282383|282387|357085|359248|427820|516006|557280|620001|621709|627882|627883|627884|627885|627886|650583|650664|683330|683331|685737|685738|685739|685740|685741|690606|732458|761935|823992|823993|823994|823995|823996|850971|922030|922031|922032|922033|930495|941951", + "text": "essential thrombocytemia" + }, + { + "baseId": "29201|29202|139302|961925", + "text": "Thrombocytosis, benign familial microcytic" + }, + { + "baseId": "29202|362908|362916|362935", + "text": "Myeloproliferative Neoplasm" + }, + { + "baseId": "29202|29701|29701|39401|102915|139302|204470|227504|493110", + "text": "Myelofibrosis" + }, + { + "baseId": "29203|29204", + "text": "Myelofibrosis with myeloid metaplasia" + }, + { + "baseId": "29203", + "text": "Thrombocythemia 2, somatic" + }, + { + "baseId": "29205|29206|29210|29211|29212|29213|29214|29215|29216|29218|29220|29223|29224|29225|29226|29227|29230|29237|29239|29240|49436|49437|49438|49439|49440|49441|49442|49443|49444|49445|49446|49447|49448|49449|49450|135065|135065|141945|141945|204407|204408|204409|204479|213792|213793|238157|244139|244141|244171|244249|244251|244254|276934|276937|276938|276943|276944|277211|277215|277907|277912|277913|277914|278013|278014|278015|278027|390840|440400|515330|550200|862595|862596|862597|862598|862599|862600|862601|862602|862603|862604", + "text": "Charcot-Marie-Tooth disease, demyelinating, type 1b" + }, + { + "baseId": "29215|213789|360953|514181", + "text": "Distal lower limb amyotrophy" + }, + { + "baseId": "29217|29231|29235|135065|141945|238157|244249|276934|276937|276938|276943|276944|277211|277215|277907|277912|277913|277914|278013|278014|278015|278027|515330|581855|626099|862595|862596|862597|862598|862599|862600|862601|862602|862603|862604", + "text": "Congenital hypomyelinating neuropathy 2" + }, + { + "baseId": "29220|29223|29234|29238|135065|141945|440400", + "text": "Charcot-Marie-Tooth disease type 2J" + }, + { + "baseId": "29220|29222|135065|141945|238157|244249|276934|276937|276938|276943|276944|277211|277215|277907|277912|277913|277914|278013|278014|278015|278027|515330|540438|624045|862595|862596|862597|862598|862599|862600|862601|862602|862603|862604|920598|964134", + "text": "Charcot-Marie-Tooth disease dominant intermediate d" + }, + { + "baseId": "29224|29232|29233|135065|141945|447442", + "text": "Charcot-Marie-Tooth disease type 2I" + }, + { + "baseId": "29227|29228", + "text": "Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths" + }, + { + "baseId": "29243", + "text": "Asthma, protection against" + }, + { + "baseId": "29246", + "text": "Spina bifida, susceptibility to" + }, + { + "baseId": "29246", + "text": "Coronary artery disease, modifier of" + }, + { + "baseId": "29246", + "text": "Coronary artery disease, development of, in hiv" + }, + { + "baseId": "29247|29247|29248|29249|29250|29251|29252|29253|29254|29258|29260|29261|29262|142624|142626|142627|187075|187075|264540|371271|373048|407700|415191|415192|415192|459199|459210|459520|480497|480498|502940|524974|524979|524984|525130|525133|544752|544755|544758|544759|544765|544769|544770|544773|544776|544785|544788|544790|544793|544796|544797|544801|544807|544808|544812|544815|544818|544823|544827|544831|544844|544848|544850|544851|544854|544861|544869|545022|545034|545041|545044|545049|545051|545053|545057|545060|545065|545068|545078|545083|545089|545090|545093|545095|545110|545112|545120|545123|545126|545129|545132|545134|545165|545176|545184|545185|545189|545190|545195|545196|545198|545202|545214|545220|545224|545225|545227|545229|545231|545234|545236|545239|545240|545248|545255|545308|545314|545318|545325|545326|545329|545335|545340|545343|545345|545347|545349|545351|545354|545355|545358|545361|545362|545364|545367|545384|545385|545390|545395|545398|545401|545402|545407|545408|545409|545414|545419|563255|565906|565908|621307|621308|621789|621790|621791|621792|621793|621794|638279|638282|638284|638286|638288|638289|638292|638293|638294|651905|651933|651944|652179|652183|652194|687494|695439|767403|767404|836133|836134|836137|836142|851343|851738|905987|905988|915083|915084|917040|917041|917477|917478|917479|963272|963273|963274|963275|972575|972576|978580|978581|978582|978583|978584", + "text": "Metaphyseal chondrodysplasia, McKusick type" + }, + { + "baseId": "29247|29247|29255|29256|29257|29258|29259|187075|415192", + "text": "Metaphyseal dysplasia without hypotrichosis" + }, + { + "baseId": "29247|29248|29249|29250|29253|29262|142623|142624|187075|264540|371271|373048|373049|373054|415192|433892|459199|459208|459210|459212|459219|459511|459518|459520|459594|459598|460060|460063|480497|480498|502940|524598|524609|524612|524618|524843|524850|524851|524973|524974|524979|524983|524984|525130|525133|525137|544785|544793|544796|544801|544808|544823|544851|545112|545120|545129|545185|545214|545224|545225|545240|545248|545329|545340|545354|545355|545358|545362|545385|545390|545409|563247|563253|563255|563257|564016|564023|564024|564037|565906|565907|565908|565910|569070|621308|621791|621792|621793|638279|638280|638281|638282|638283|638284|638285|638286|638287|638288|638289|638290|638291|638292|638293|638294|638295|651902|651903|651905|651911|651913|651918|651930|651933|651939|651944|651945|652021|652179|652183|652194|652197|652204|687494|689951|689952|695439|695440|695441|711963|767403|767404|820138|836131|836132|836133|836134|836135|836136|836137|836138|836139|836140|836141|836142|851341|851343|851738|852184|852508|852512|852514|852519|852520|905987|917477|925588|925589|925590|925591|925592|934764|934765|934766|934767|934768|934769|934770|934771|940148|940150|940938|940939|946631|946632|946633|946634|946635|955827|955828|955829|955830|955831|955832|955833|955834|955835|955836|955837|955838|955839|955840|955841|955842|955843|955844|955845|955846|955847|960686|960687|960688|960689|960690|960691|960692|960693|960694|960695|960696|960697|960698|960699|960700|960701|960702|960704", + "text": "Anauxetic dysplasia" + }, + { + "baseId": "29247|29264|29265|29266|29267|29268|187075|415192", + "text": "Anauxetic dysplasia 1" + }, + { + "baseId": "29269|29270|29271|29272|40569|65581|65582|65583|142182|142183|210748|265866|421356|425460|619933|620738|679334|788745|788746|861127|905017|918730", + "text": "Mitochondrial complex 1 deficiency, nuclear type 5" + }, + { + "baseId": "29273|29274|29275|29276|29277|29278|29279|29280|29281|29282|135071|135072|135073|135074|135075|194285|194809|267430|268464|269525|273699|294755|294756|294757|294764|294765|294769|294771|294774|294778|294779|294784|294786|294790|294800|294801|294802|296351|296352|296353|296358|296368|296370|296384|296394|296398|296404|296411|296412|300104|300106|300115|300117|300118|300119|300124|300136|300138|300139|300151|300153|300155|300160|300162|300163|300165|300172|300178|300180|300191|300198|300200|300214|300215|300222|300224|300225|413670|428330|487115|492548|508798|512899|543264|615975|615976|621179|651181|721136|721137|734783|734784|764653|764660|764661|764662|764664|782065|787394|829544|829545|829547|829554|829555|829559|890823|890824|890825|890826|890827|890828|890829|890830|890831|890832|890833|890834|890835|890836|890837|890838|890839|890840|890841|890842|890843|890844|890845|890846|890847|890848|891802|891803|891804|944153|971853|971854|971855|971856|971857|971858|971859|971860|971861|971862|971863|971864|971865|971866|971867|971868|971869|978110|978111|978112|978113|978114|978115|978116", + "text": "Abetalipoproteinaemia" + }, + { + "baseId": "29281", + "text": "Metabolic syndrome, protection against" + }, + { + "baseId": "29283", + "text": "Prostate cancer, hereditary, 13" + }, + { + "baseId": "29284|29284|29285|29286|29286|29287|29290|29291|29292|29292|29293|29295|29296|29297|29300|29301|29305|29307|31050|33162|33163|33164|33166|33170|33175|33182|33184|33184|33187|33194|33195|33196|33880|46864|79017|103896|103907|103914|103918|103940|103945|103957|103986|104001|104044|104089|104095|104097|104100|104103|104105|104109|104111|104113|104114|104114|104117|104123|195230|199866|199867|199868|199869|199870|199871|217270|227392|255044|256221|275813|275835|275846|275852|275853|275859|275867|275874|275875|275885|275924|275994|276114|291699|291712|291719|291720|291722|293045|293046|296286|296298|296308|296311|296313|296319|296362|296363|296366|300690|328688|328797|330240|336729|338670|338744|338789|338792|344740|353027|360942|418804|418805|422174|467806|468102|468117|468120|531369|531370|531431|531670|531674|539073|568253|569009|569205|571537|577364|577367|590946|590947|590954|590956|590958|590959|590960|590961|590962|590963|590964|608810|614153|626253|642667|642668|642669|642670|642671|642672|642673|642674|646108|646109|646110|646111|646112|646113|677120|684679|685434|693591|694092|695745|695747|695749|739304|745294|755909|778505|789819|791784|798717|841713|841714|841715|841716|841717|841718|845515|858702|858704|858705|858707|858711|858712|936704|948648|949982|949983|949984|949985|957292|957293|958147|958148|960223|970503", + "text": "Frontotemporal dementia" + }, + { + "baseId": "29284|29284|29286|29292|29302|29306|29308|227392|422174|539073|626253", + "text": "Progressive supranuclear ophthalmoplegia" + }, + { + "baseId": "29284|29286|29292|104135|422174", + "text": "Parkinson-dementia syndrome" + }, + { + "baseId": "29284|29286|29292|29294|29298|29299|29301|33162|33163|33164|33166|33170|33175|33182|33184|33187|33188|33194|33195|33196|33880|46864|103896|103907|103914|103918|103940|103945|103957|103986|104001|227392|255044|330240|336729|338744|422174|539073|568253|569009|577364|577367|626253|642667|642668|642669|642670|642671|642672|642673|642674|693591|739304|841713|841714|841715|841716|841717|841718|936704|948648|957292|957293", + "text": "Pick's disease" + }, + { + "baseId": "29300|104096|104097|104099|104100|104101|104103|104108|256217|256219|328788|328789|328791|328792|328797|328802|328805|328808|328813|328817|328823|328825|328826|328828|328833|328835|328838|328839|328840|328844|328846|328847|328848|328853|328870|328876|328887|328892|328893|338763|338774|338782|338789|338792|338793|338794|338801|338804|338812|338814|338815|338817|338819|338821|338828|338829|338833|338841|338843|338846|338849|338852|338854|338857|338859|338860|338864|338872|338877|338879|338885|338887|344826|344829|344836|344837|344842|344845|344847|344848|344854|344855|344856|344859|344862|344868|344871|344877|344882|344884|344886|344887|344893|344897|344898|344902|344904|344906|344907|344911|344915|344922|344930|344933|346212|346213|346214|346215|346222|346223|346224|346225|346226|346228|346229|346233|346234|346236|346239|346240|346244|346251|346252|346253|346256|346265|346267|346268|346272|413472|531674|577644|646110|877785|877786|877787|877788|877789|877790|877791|877792|877793|877794|877795|877796|877797|877798|877799|877800|877801|877802|877803|877804|877805|877806|877807|877808|877809|877810|877811|877812|877813|877814|877815|877816|877817|877818|877819|877820|877821|880543", + "text": "MAPT-Related Spectrum Disorders" + }, + { + "baseId": "29309|29310|29311|29312|29313|29315|29316|31677|38747|229145|229145|229146|229149|229149|229152|229153|229154|229155|237600|291435|291442|291443|291446|291448|291449|291454|291458|291463|291464|291468|291469|291475|291477|291484|292693|292694|292697|292698|292701|292705|292707|292708|292709|292713|292714|292716|292717|292722|295984|295987|295988|295989|295997|295999|296003|296010|296017|296031|296032|296043|296051|296058|296069|359493|361916|361917|361918|367718|443510|481055|481056|481057|481058|481059|495149|535279|535280|535381|535701|537754|537755|537756|537757|537758|537759|537760|631792|655579|734287|748510|793044|802068|828567|851093|889613|889614|889615|889616|889617|889618|889619|889620|889621|889622|889623|889624|889625|889626|889627|889628|889629|889630|889631|889632|889633|889634|889635|889636|889637|889638|889639|889640|889641|889642|889643|889644|889645|889646|889647|889648|889649|889650|889651|889652|889653|891702|891703|891704|891705|891706|964225|965737|983613|983614|983623|983624|983625|983626|983627|983628|983629", + "text": "Waardenburg syndrome type 2A" + }, + { + "baseId": "29311|29314|38747|229145|229145|229146|229149|229149|229153|229154|229155|291435|291442|291443|291446|291448|291449|291454|291455|291457|291458|291463|291464|291468|291469|291475|291477|291484|292693|292694|292697|292698|292701|292705|292707|292708|292709|292713|292714|292716|292717|292718|292722|295984|295987|295988|295989|295997|295999|296003|296010|296017|296031|296032|296043|296046|296047|296048|296051|296058|296060|296069|443510|535381|535701|631792|655579|734287|748510|790415|793044|828567|851093|889613|889614|889615|889616|889617|889618|889619|889620|889621|889622|889623|889624|889625|889626|889627|889628|889629|889630|889631|889632|889633|889634|889635|889636|889637|889638|889639|889640|889641|889642|889643|889644|889645|889646|889647|889648|889649|889650|889651|889652|889653|891702|891703|891704|891705|891706|918856|918857", + "text": "Tietz syndrome" + }, + { + "baseId": "29311|361916|361917|361918", + "text": "Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness" + }, + { + "baseId": "29311|192593|215772|228526|228928|228929|228930|228931|228932|228936|228937|228938|230449|231226|231227|231228|231231|231235|284872|284880|284881|284886|285534|285535|287842|287843|287860|287879|287881|287886|288118|288125|288126|288127|288130|291455|291457|292718|296046|296047|296048|296060|335064|336129|337038|345839|347741|347742|347749|350281|350282|350287|351585|351588|351589|351593|351594|351597|351600|351602|352543|352544|352545|352546|352547|352548|360856|446415|496263|496265|496686|508172|694737|742898|747372|747374|883882|883883|883884|883885|883886|883887|883888|883889|883890|883891|883892|891282|891283|891284|891285|891286|891287|891288|891289|891290|891291|891292|891293|891294|891295", + "text": "Waardenburg syndrome" + }, + { + "baseId": "29315", + "text": "Poliosis" + }, + { + "baseId": "29315", + "text": "Heterochromia iridis" + }, + { + "baseId": "29315|424972", + "text": "Prelingual sensorineural hearing impairment" + }, + { + "baseId": "29317|29318|29319|29320|29321|29322|29323|29325|29326|29327|141985|196160|199943|279787|279799|279810|279813|280114|280122|280140|281420|281427|281428|281437|281438|281439|281568|281576|281581|281635|364964|364968|425347|498246|498341|514894|515573|515577|515647|515652|515703|557168|558389|558389|627531|627532|627533|627534|627535|627536|627537|627538|627539|627540|650623|650717|707239|729984|746311|774474|789948|789949|823634|823635|823636|823637|823638|823639|823640|850760|864030|920142|920143|921899|921900|921901|930384|941817|941818|941819|952330|952331|960425|961749|961801|961802", + "text": "Methylcobalamin deficiency type cblG" + }, + { + "baseId": "29317|360996|405676", + "text": "Intellectual disability, profound" + }, + { + "baseId": "29317|79480|181418|818745", + "text": "Seizure disorder" + }, + { + "baseId": "29317|800981", + "text": "Decreased methionine synthase activity" + }, + { + "baseId": "29328|29329|29330|29331|29333|29334|29335|29335|29338|29339|29340|29341|29342|46903|46904|46905|81233|98844|98845|98850|98851|98853|98856|98857|98858|98859|98861|98862|98863|98863|98867|98870|98871|98873|98874|98875|98877|98878|98883|98884|98885|98886|98887|98894|98895|98896|98897|98899|134888|134889|134891|172220|172221|172223|172224|172225|172226|172227|172228|172230|172231|176971|177811|177814|178769|187114|188050|189017|192082|193821|194098|194154|194185|194639|207312|207313|207316|225822|237299|237464|252102|252108|252112|252113|259832|259833|260810|260937|264273|267214|268652|269221|271726|271915|272150|272150|298960|301389|305769|305943|306020|359716|363855|370142|406807|406809|421568|425662|425666|425666|425668|428505|428511|428512|428513|430992|430993|434603|434604|440908|440910|440912|440913|440919|443870|443874|443879|455228|455260|455873|455876|455881|456070|456077|456094|456105|456115|492135|495250|511025|513562|513563|513564|513565|521746|521990|521997|536707|538380|538994|543480|543492|543495|543500|543501|543503|543504|543506|543516|543522|543524|543533|543535|543537|543539|543547|543558|543561|543564|543570|543579|543581|543583|543591|543597|543598|543600|543600|543601|543604|543751|543752|543754|543756|543758|543763|543765|543768|543769|543769|543773|543792|543799|543802|543803|543814|543816|543818|543831|543833|543834|543835|543838|543840|543842|543847|543849|543853|543854|543857|543860|543862|543865|543868|543871|543871|543872|543874|543878|543880|543881|543883|543889|543890|543891|543893|543896|543898|543901|543903|543904|543905|543906|543912|543914|543917|543939|543943|543945|543947|543949|543953|543961|543965|543967|543970|543971|543973|543974|543975|543977|543986|543987|543989|543990|543992|543993|543995|543996|543998|551293|563386|565379|576120|608951|612274|620210|622356|622882|634542|634595|634596|677124|788791|790578|790579|790580|790581|790582|790583|790584|795750|969125|971887|971888|971889|971890|971891|971892|971893|971894|971895|971896|971897|971898|971899|971900|971901|971902|971903|971904|971905|971906|971907|971908|971909|971910|971911|971912|971913|971914|971915|971916|971917|971918|971919|971920|971921|971922|971923|971924|971925|971926|971927|971928|971929|971930|971931|971932|971933|971934|971935|971936|971937|971938|971939|971940|971941|971942|971943|971944|971945|971946|971947|971948|971949|971950|971951|971952|972787|975953|984263|984264", + "text": "Merosin deficient congenital muscular dystrophy" + }, + { + "baseId": 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+ "text": "Laminin alpha 2-related dystrophy" + }, + { + "baseId": "29335|75098|98863|172224|172224|193821|194098|268652|272150|301389|305943|306020|359716|425666|425668|428505|428511|428512|428513|440910|440912|440919|443870|455876|456094|521746|543600|543769|543871|563386|576066|576067|576068|620210|624851|634596|677124|677159|795750|965273|971887|971888|971889|971890|971891|971892|971893|971894|971895|971896|971897|971898|971899|971900|971901|971902|971903|971904|971905|971906|971907|971908|971909|971910|971911|971912|971913|971914|971915|971916|971917|971918|971919|971920|971921|971922|971923|971924|971925|971926|971927|971928|971929|971930|971931|971932|971933|971934|971935|971936|971937|971938|971939|971940|971941|971942|971943|971944|971945|971946|971947|971948|971949|971950|971951|971952", + "text": "Muscular dystrophy, limb-girdle, autosomal recessive 23" + }, + { + "baseId": "29336|29337|29338|29339|98845|98846|98847|98848|98850|98852|98855|98856|98858|98859|98860|98862|98865|98866|98869|98870|98873|98874|98875|98876|98881|98882|98885|98891|98894|98895|98896|98898|134879|134880|134881|134882|134883|134884|134885|134886|134888|134889|134890|134891|134892|134893|172222|172223|172224|172226|172227|172229|172230|172231|176970|177809|177810|177813|188051|191154|191155|192622|193014|193821|194042|194639|194719|195082|195488|207311|237014|237299|252070|252073|252075|252077|252081|252090|252094|252111|252113|252115|267776|268652|271915|298911|298913|298917|298918|298922|298923|298926|298927|298928|298929|298933|298937|298938|298942|298945|298946|298948|298949|298950|298960|298962|298963|298965|298966|298970|298971|298972|298974|298977|298980|298982|301367|301370|301382|301383|301384|301385|301386|301387|301388|301389|301391|301394|301401|305739|305740|305743|305744|305745|305750|305757|305758|305761|305764|305769|305912|305916|305917|305924|305928|305929|305940|305943|305959|305973|305975|305976|305992|305995|306014|306018|306019|306020|359761|361443|368311|368845|370145|370151|406811|415024|421569|421571|428505|428510|428512|428514|438785|440908|440912|440915|440919|443870|443877|455195|455207|455228|455241|455276|455344|455898|455901|456091|456109|456121|501823|513563|521388|521708|521710|538994|560584|563384|576120|584749|620209|620210|620211|620212|622356|634542|634545|634546|634582|634599|634606|691910|691912|691916|691918|691925|691934|699304|699308|710171|777595|895277|895278|895279|895280|895281|895282|895283|895284|895285|895286|895287|895288|895289|895290|895291|895292|895293|895294|895295|895296|895297|895298|895299|895300|895301|895302|895303|895304|895305|895306|895307|895308|895309|895310|895311|895312|895313|895314|895315|895316|895317|895318|895319|895320|895321|896181|896182|896183|896184|896185", + "text": "Congenital muscular dystrophy due to partial LAMA2 deficiency" + }, + { + "baseId": "29343|437665|964427", + "text": "Spondyloepiphyseal dysplasia, kimberley type" + }, + { + "baseId": "29344|610397|610398|788892|816526|816527", + "text": "Spondyloepimetaphyseal dysplasia, aggrecan type" + }, + { + "baseId": "29345|247337|434369|434370|434371|434372|434373|434374|434375|434376|434377|434378|437665|439352|623319|791493|791494|791495|861580|964425|964426|964428|964429|964430", + "text": "Osteochondritis dissecans" + }, + { + "baseId": "29346|29347|29349|29351", + "text": "Skin/hair/eye pigmentation 2, red hair/fair skin" + }, + { + "baseId": "29346|343069|445685|539156|539157|539158", + "text": "Skin and Hair Hypopigmentation" + }, + { + "baseId": "29346|29347|29348|29349|29350|29351|170206|227383|242562|242563|242564|242565|242566|242567|242568|242569|242569|242570|242571|242572|256009|256010|256012|256013|256014|260144|326869|326873|326877|326879|326883|326884|326889|326896|326897|326898|326900|326906|326908|326911|326915|336760|336761|336764|336770|336771|336774|336778|336781|336783|336786|336797|336806|336811|336817|336820|336821|336822|343007|343013|343014|343017|343020|343025|343030|343032|343035|343037|343042|343050|343058|343060|343062|343069|343070|343073|343075|343079|343084|344637|344638|344648|344650|344651|344652|344654|344657|344660|344661|344664|344665|344667|344670|344675|344678|344681|344682|344684|344687|344689|344694|401431|401431|401434|401435|401465|401466|401946|401950|401952|401953|401957|401959|402214|422134|422134|445685|445685|466179|466958|466960|466962|466964|466967|467003|467004|467011|467239|467240|467249|467249|467254|467255|467259|467261|467261|530446|530578|530584|530764|530766|530961|568517|568518|568521|570634|570637|570638|570696|570697|570700|570708|574227|645224|645225|645226|645227|645228|645229|645230|645231|645232|645233|645234|684648|684649|684650|684651|684652|688726|688727|820941|820959|820960|844607|844608|844609|844610|844611|844612|844613|844614|844615|844616|844617|844618|844619|844620|844621|844622|844623|876235|876236|876237|876238|876239|876240|876241|876242|876243|876244|876245|876246|876247|876248|876249|876250|876251|876252|876253|876254|876255|876256|876257|876258|876259|876260|876261|876262|876263|876264|876265|876266|876267|876268|876269|876270|876271|876272|876273|876274|876275|876276|876277|876278|876279|928030|928031|928032|928033|937688|937689|937690|937691|937692|937693|949663|949664|949665|949666|957971|957972|957973|957974", + "text": "Cutaneous malignant melanoma 5" + }, + { + "baseId": "29347|29350", + "text": "Skin/hair/eye pigmentation 2, blond hair/fair skin" + }, + { + "baseId": "29349|29351|242569|401431|422134|445685|467249|467261", + "text": "Increased analgesia from kappa-opioid receptor agonist, female-specific" + }, + { + "baseId": "29349|29351|32633", + "text": "OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF" + }, + { + "baseId": "29352|29353|29354", + "text": "Uv-induced skin damage, susceptibility to" + }, + { + "baseId": "29355|29356|29358|29359|29360|29361|29362|29363|29364|29365|29366|29367|29368|29369|29370|29371|29372|29373|29374|29375|29377|186255|430075|490974|553540|964500|964501", + "text": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20" + }, + { + "baseId": "29357|153362|190849|207488|226431|226432|226433|226434|226435|481029|535227|535398|535399|535401|535403|535404|535405|535406|535407|535408|535409|535410|535411|535412|535413|535414|535415|535416|535419|535422|535425|535426|535428|535430|535431|535432|535433|535434|535435|535436|535439|535440|535441|535442|535444|535446|535447|535448|535450|535451|535452|535453|535454|535455|535456|535458|535460|535461|535464|535466|535467|535468|535469|535470|535471|535472|535473|535475|535476|535477|535478|535479|535484|535488|535489|535491|535494|535495|535498|535501|535504|535505|535506|535507|535510|535511|535512|535513|535514|535515|535516|535517|535518|535519|535520|535521|535522|535523|535524|535525|535526|535527|535531|535532|535533|535534|535536|535537|535538|535539|535541|535543|535544|535545|535547|535548|535553|535554|535555|535556|535558|535559|535560|535561|535562|535564|535565|535566|535570|535571|535573|535574|535575|535576|535577|535578|535581|535582|535583|535584|535586|535588|535589|535590|535591|535592|535593|535594|535595|535596|535597|535598|535600|535601|535602|535603|535604|535608|535610|535611|535613|535615|535616|535617|535618|535619|535620|535621|535622|535623|535626|535627|535629|535630|535632|535633|535634|535635|535637|535639|535640|535641|535642|535644|535645|535646|535648|535649|535653|535654|535655|535656|576146|904233|904234|904237|904238|967239|970337", + "text": "Schizophrenia" + }, + { + "baseId": "29378|29379", + "text": "Body mass index quantitative trait locus 9" + }, + { + "baseId": "29380|29381|29382|29383|190292|265911|268606|270529|316418|316419|323886|323888|323889|323901|323902|323903|323907|323908|329942|329943|329944|329952|331244|331251|331254|331267|331287|331288|331303|331321|331322|738573|869553|869554|869555|869556|869557", + "text": "Keutel syndrome" + }, + { + "baseId": "29384|29385|29386|29387|29388|99967|99968|99969|99970|99971|99972|99973|99974|177841|186941|193509|214749|214750|267163|323389|333058|333059|333061|333064|333065|333067|339899|339900|339903|341308|341310|341315|358317|358318|358319|358320|358321|358322|358323|358324|374745|374746|422045|445420|465180|465426|492216|504950|505805|547571|547575|547577|547581|547586|547589|547592|547603|547609|547835|547840|547843|547850|547854|547855|547856|547858|548259|548262|569151|576168|643546|643547|693741|693742|693743|693744|703338|739777|739778|754675|770342|770343|770344|785015|785016|785017|785018|785019|788159|788165|791484|842706|842707|842708|852071|874169|874170|874171|874172|874173|874174|874175|874176|874177|874178|874179|874180|874181|874182|874183|874184|874185|874186|876573|876574|927425|937075|957511|957512|979661|979662|979663|979664|979665|979666|979667|979668|979669", + "text": "MPI-CDG" + }, + { + "baseId": "29389|29390|29391|310466|310469|310476|310478|310484|310485|310487|310488|310496|310497|310502|310504|315585|315586|315587|315589|315592|315593|315594|315601|315602|315605|315607|315618|315620|315631|321597|321599|321600|321603|321607|321610|321616|321625|321629|321630|321631|321640|321641|322346|322355|322358|322359|322360|322365|322366|322370|322383|322384|353129|389887|620365|752131|865955|865956|865957|865958|865959|865960|865961|865962|865963|865964|865965|865966|865967|865968|865969|865970|865971|865972|865973|865974|865975|865976|865977|865978|865979|865980|865981|865982|865983|865984|868478", + "text": "Mannose-binding protein deficiency" + }, + { + "baseId": "29392", + "text": "Epilepsy, idiopathic generalized, susceptibility to" + }, + { + "baseId": "29393|29394|65630|254635|318061|318063|318068|318077|318080|325987|325989|325990|325992|325994|325995|326001|326004|326021|326027|332239|333739|333742|333744|333746|333750|364277|462367|462368|462635|463083|571950|693248|870195|870196|870197|870198|870199|870200|870201|870202|870203|870204|870205|870206|870207|870208|870209|941036|964396", + "text": "Cataract 15, multiple types" + }, + { + "baseId": "29395|226063|334178|344055|344056|344062|344063|349298|349299|349300|349301|349304|350297|350300|350301|471277|533870|613458|689156|694512|694513|882402|882403|882404|882405|882406|882407|882408|882409|882410|882411|882412|882413|882414|882415|882416|882417|882418|882419|882923", + "text": "Cataract 19, multiple types" + }, + { + "baseId": "29398|29757", + "text": "Rheumatoid arthritis, systemic juvenile, susceptibility to" + }, + { + "baseId": "29399|29400|29401", + "text": "Exfoliation syndrome, susceptibility to" + }, + { + "baseId": "29402", + "text": "LYSYL OXIDASE POLYMORPHISM" + }, + { + "baseId": "29403|29404|29405|29406|29407|29408|29409|29410|29411|29412|193408|215017|249371|249372|249373|249375|249376|257908|257910|257912|257913|257914|257916|257919|257920|257921|257923|257924|257927|257935|259623|269140|272765|276139|276146|276155|276156|276157|276159|276160|276162|276163|276187|276190|276195|276206|276420|276426|276427|276431|276432|276433|276438|276448|276456|276464|276734|276736|276781|276783|276797|276813|276815|276817|276818|276820|276831|276832|276836|276837|276841|276860|276912|276913|276924|276925|276929|276951|359198|364317|364389|364398|364410|364414|364417|414724|425304|433837|433838|433839|433840|433841|442596|442597|446906|446916|447022|447025|447028|447033|447036|447037|447039|447044|447045|447058|447060|447062|447118|447119|447124|447125|447128|447136|447143|447146|447147|447151|447152|447153|447155|447157|447158|447160|447162|447195|447199|447205|447208|447212|447214|447219|447220|447222|447224|490197|497983|497984|498020|498022|498024|509088|509089|509090|509091|509092|509097|509098|513487|514996|514999|515001|515003|515004|515006|515009|515010|515011|515012|515019|515023|515025|515065|515066|515068|515072|515084|515087|515090|515101|515104|536561|538940|538941|552030|552031|556514|556566|556568|556599|556601|556603|556605|556882|556883|556885|556887|556889|556891|556893|557123|557160|558005|614549|619946|619947|622298|626695|626696|626697|626698|626699|626700|626701|626702|626703|626704|626705|626706|626707|626708|626709|626710|626711|626712|626713|626714|626715|626717|626723|626724|626725|626726|626727|650524|650525|650612|690349|695000|745608|745610|774359|776986|777009|789827|794389|799104|799105|799106|818841|822599|822600|822602|822603|822604|822605|822606|822607|822608|822609|822610|822611|822612|822613|822617|822618|850718|862097|862098|862099|862100|862117|862119|862120|864965|918547|921605|921606|921607|921608|921609|929997|929998|929999|930000|930001|939769|940598|941399|941400|941401|941402|941403|941404|941405|941406|952034|952035|959520|980432|981216|981217", + "text": "Ehlers-Danlos syndrome, hydroxylysine-deficient" + }, + { + "baseId": "29413|29414|29415|29416|29417|31447|31448|31449|31452|31459|32962|32966|32967|32972|32973|40563|237254|292513|293931|293932|293933|297256|297269|297293|297303|297304|297305|297307|297313|297314|297315|297334|297337|297349|297350|297353|312407|312417|312419|312421|312422|312424|318297|318298|318381|318383|318385|318387|318391|318400|318407|318409|318410|324450|325163|325164|325168|325178|326549|326552|326557|326561|326562|326563|332752|332753|332755|332758|332761|334385|334393|334397|334400|334403|334405|334407|620458|621343|624419|681806|709203|709204|790442|790443|867058|867059|867060|867061|867062|867063|867064|870391|870392|870393|870394|870395|870396|870397|870398|870399|870400|870401|870402|870403|870404|870405|870406|870407|890261|890262|890263|890264|890265|890266|890267|891754|921210|963004", + "text": "Familial visceral amyloidosis, Ostertag type" + }, + { + "baseId": "29420", + "text": "Leprosy, early-onset, susceptibility to" + }, + { + "baseId": "29423|29423|29424|29428|29429|29433|29436|29441|29445|29446|29447|29451|45131|45132|45133|85537|141819|250744|250745|250746|286691|286693|286694|286696|286697|286699|286700|286702|287404|287405|287406|287407|287408|287411|287412|287413|289835|289853|289854|289855|289856|289857|289858|289860|290209|290210|290213|290214|290216|428064|719898|719900|733508|816019|885125|885126|885127|885128|885129|885130|885131|885132|885133|885134|885135|885136|885137|885138|885139|885140|885141|885142|885143|885144|885145|887378|887379", + "text": "Gonadotropin-independent familial sexual precocity" + }, + { + "baseId": "29423|29433", + "text": "Precocious puberty in males" + }, + { + "baseId": "29423|29426|29427|29430|29431|29437|29438|29444|29448|29449|29450|45132|85537|141819|250744|250745|250746|286691|286693|286694|286696|286697|286699|286700|286702|287404|287405|287406|287407|287408|287411|287412|287413|289835|289853|289854|289855|289856|289857|289858|289860|290209|290210|290213|290214|290216|428064|485708|485710|536161|614511|719898|719900|733508|816019|816020|885125|885126|885127|885128|885129|885130|885131|885132|885133|885134|885135|885136|885137|885138|885139|885140|885141|885142|885143|885144|885145|887378|887379", + "text": "Leydig cell hypoplasia, type 1" + }, + { + "baseId": "29427|29431|29437|29438", + "text": "Luteinizing hormone resistance, female" + }, + { + "baseId": "29432", + "text": "Leydig hypoplasia, type I" + }, + { + "baseId": "29435|29439|29443", + "text": "Leydig cell hypoplasia, type II" + }, + { + "baseId": "29440", + "text": "Luteinizing hormone/choriogonadotropin receptor, lq variant" + }, + { + "baseId": "29442", + "text": "Leydig cell adenoma, somatic, with male-limited precocious puberty" + }, + { + "baseId": "29452|29455|187176|187177|187178|187179|508926|508927|508928|508929|806424", + "text": "Isolated lutropin deficiency" + }, + { + "baseId": "29454|29566|32737|38625|38658|38809|38859|39652|39948|40116|44157|44192|45804|45808|45834|45835|48062|48174|48183|48307|48398|48485|48486|48496|48715|48730|49899|51199|57803|59494|65577|65629|70494|70495|71447|71448|75073|75313|75315|75605|76378|76957|76958|76967|76968|79736", + "text": "Variant of unknown significance" + }, + { + "baseId": "29456|305012|308710|308720|313849|313851|313858|313859|313939|313941|711467|736598|899380|899381|899382|899383|899384|899385", + "text": "Hypogonadotropic hypogonadism 12 with or without anosmia" + }, + { + "baseId": "29457|29458|578364", + "text": "Vohwinkel syndrome, variant form" + }, + { + "baseId": "29469", + "text": "Long QT syndrome, bradycardia-induced" + }, + { + "baseId": "29472", + "text": "Long QT syndrome 2, acquired, susceptibility to" + }, + { + "baseId": "29475|29476|78157|78188|78211|78325|78334|78393|78402|78405|78408|78431|78443|197230|197324|197333|302179|361864|361865|369621|389774|395489|395490|396190|456848|818254|833312|919088", + "text": "Short QT syndrome 1" + }, + { + "baseId": "29484", + "text": "Thalassemia, gamma-delta-beta" + }, + { + "baseId": "29485", + "text": "Asthma, diminished response to antileukotriene treatment in" + }, + { + "baseId": "29486", + "text": "APOLIPOPROTEIN(a), TYPE C POLYMORPHISM" + }, + { + "baseId": "29487", + "text": "APOLIPOPROTEIN(a), TYPE D POLYMORPHISM" + }, + { + "baseId": "29488|29489", + "text": "Lipoprotein(a) deficiency, congenital" + }, + { + "baseId": "29490|29491|38731|323001|323007|323011|323013|323017|323020|332614|332619|332620|332624|332633|339537|339544|339553|339560|339564|339566|339577|339578|339582|340947|340951|340955|340956|340963|340965|340966|340970|620524|714509|754560|873915|873916|873917|873918|873919|873920|873921|873922|873923|873924|873925|873926|873927|873928|873929|873930|873931|873932|876546|876547|876548|876549|919584", + "text": "Hepatic lipase deficiency" + }, + { + "baseId": "29492|29493|29494", + "text": "High density lipoprotein cholesterol level quantitative trait locus 12" + }, + { + "baseId": "29495|29670|70804|70805|70806|70807|70808|70809|77430", + "text": "Susceptibility to hepatitis C virus" + }, + { + "baseId": "29496|29497|29878|29879|29880|29881|29882|45053|45055|45058|75283|138262|138263|138264|138266|138267|138269|138270|138271|138272|138273|138275|138276|138277|138278|138279|141288|141289|141290|142549|142550|142551|142552|142553|188798|205412|226681|226682|259823|297329|297338|297341|297343|297344|297345|297358|297359|297360|297366|297368|299336|299337|299338|299356|299369|299370|299371|299372|299375|303556|303558|303559|303564|303565|303567|303572|303575|303576|303861|303867|303869|303872|303873|303877|303880|303881|303885|303887|303888|303889|303900|364585|364699|364707|364708|364709|364744|364749|364757|364761|368162|368444|368447|406742|433881|433885|438290|442687|447365|447373|447482|447591|447593|447615|454992|454993|455617|498154|498158|498315|508860|515339|515385|515388|515393|515398|515400|515418|515422|515426|515428|515429|515430|515435|515438|515440|515441|515442|515443|515447|515450|515452|515456|520164|521442|521450|521540|521775|521778|556724|556726|556728|556730|556732|556734|556736|556769|556771|557084|557086|558270|558272|558274|558276|558278|558280|558282|558284|560317|560450|560452|563161|563163|563164|563166|563168|565122|565124|613426|614204|620783|623585|624170|624305|624306|627202|627203|627204|627205|627206|627207|627208|627209|627210|627211|627212|627213|627214|627215|627216|627217|627218|627219|627220|627221|627222|627223|627224|627225|627226|627227|627228|627229|633936|633937|633938|633939|633940|633941|633942|633943|650607|650705|650708|651232|651345|690439|690440|690441|691853|691854|696364|696365|699074|721439|721440|729948|735086|745960|761448|780433|780434|780435|787037|787285|818402|821832|823142|823143|823144|823145|823146|823147|823148|823149|823150|823151|823152|823153|823154|823155|823156|823157|823158|823159|823160|823161|823162|823163|823164|823165|823166|823167|823168|830837|830838|830839|830840|830841|830842|830843|830844|830845|850750|851034|851986|894137|894138|894139|894140|894141|894142|894143|894144|894145|894146|894147|894148|894149|894150|894151|894152|894153|894154|894155|894156|894157|894158|894159|894160|894161|894162|894163|894164|894165|894166|894167|894168|894169|894170|894171|894172|894173|894174|894175|894176|894177|894178|894179|896092|896093|896094|904219|921784|921785|921786|921787|921788|924062|924063|924064|924065|924066|924067|924068|930211|930212|930213|930214|930215|930216|930217|930218|932905|932906|932907|932908|939785|939786|940613|941632|941633|941634|941635|941636|941637|941638|941639|941640|941641|941642|941643|941644|941645|944617|944618|944619|944620|952201|952202|954171|959767", + "text": "Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" + }, + { + "baseId": "29499|29500|29501|187112|191536|191787|192645|213921|237224|265428|265681|267617|297518|297525|297526|297531|297532|297533|297536|297537|297541|297543|297547|297550|297559|297560|297562|297570|297572|297573|297576|297577|297584|297587|297595|297596|297597|297598|297601|297602|297606|297608|297609|299681|299687|299694|299695|299702|299705|299706|299707|299708|299710|299714|299722|299723|299732|299739|299740|299744|299749|299751|299756|299757|299767|299769|299772|299774|299777|299778|299779|299785|299787|299790|299791|299792|299795|299797|299812|299813|303773|303775|303776|303785|303793|303796|303799|303801|303802|303806|303810|303834|303838|303839|303853|303858|303859|303864|303919|303930|303937|303938|304199|304204|304207|304208|304209|304212|304213|304223|304224|304238|304250|304252|304253|304254|304257|304259|304266|304267|304277|304279|304291|304312|304314|304315|304316|304325|304327|304333|304334|304335|304337|304338|304339|353703|433664|438653|493341|496427|552088|552089|578376|609592|609593|609594|609595|620198|623233|625838|735097|735099|735100|765123|765124|765126|765128|765129|765130|765132|765134|765136|775024|782294|782298|782302|799412|799413|799414|799415|799416|799417|799418|799419|805007|805443|822300|894293|894294|894295|894296|894297|894298|894299|894300|894301|894302|894303|894304|894305|894306|894307|894308|894309|894310|894311|894312|894313|894314|894315|894316|894317|894318|894319|894320|894321|894322|894323|894324|894325|894326|894327|894328|894329|894330|894331|894332|894333|894334|894335|894336|894337|894338|894339|894340|894341|894342|894343|894344|894345|894346|894347|894348|894349|894350|894351|894352|894353|894354|894355|894356|894357|894358|894359|894360|894361|894362|894363|894364|894365|894366|894367|894368|894369|896108|896109|896110|978181|978182|978183|978184|983765", + "text": "St\u00fcve-Wiedemann syndrome" + }, + { + "baseId": "29502|29503|29504|29505|29506|29507|29508|29509|29510|208712|208713|243602|243603|243604|243605|243606|243607|243608|243609|243610|243611|243612|243613|243614|243615|243616|243617|243618|243619|243620|243621|248535|257451|257452|257453|257454|257456|257457|257458|336677|336681|336682|336686|336689|336692|336695|336699|336702|336711|336713|336716|336717|336719|336720|336722|336724|336726|336734|336736|336737|336738|336740|336742|336744|336745|346357|346369|346370|346371|346372|346375|346377|346378|346386|346389|346393|346394|346396|346401|346402|346405|346411|346412|346415|350599|350602|350603|350606|350608|350609|350611|350612|350614|350615|350616|350619|350620|350623|350624|350626|350627|350628|350631|350632|350633|350636|350638|350641|351653|351655|351657|351658|351661|351662|351663|351666|351667|351669|351670|351673|351675|351677|351679|351681|351683|351686|351688|351690|351693|351694|351696|362897|362900|362901|379769|403702|403712|403721|403726|403728|403732|403736|403737|403738|403739|403746|403749|404215|404217|404219|404220|404227|404236|404241|404246|404251|404254|404260|404263|404266|404269|404271|404272|404275|404847|404848|422354|430417|430419|430419|430421|430422|430423|469587|469592|469593|469595|469604|469605|469611|470630|470633|470637|470639|470641|470646|470648|470649|470656|471077|471146|471147|471155|471166|471170|471173|471175|471177|471184|471187|471189|471192|471193|471194|471612|471618|471620|471620|471623|471627|471631|471632|471635|471636|471638|533770|533817|533823|533827|533830|533838|533839|533840|533841|533842|533843|533844|533846|533847|533848|533849|533850|533851|533853|533854|533856|533857|533858|533859|533861|533863|533865|533867|533871|533873|533875|533879|534402|534403|534409|534413|534420|536024|552357|552362|552368|552369|552374|552379|552387|571518|571520|571527|571531|571541|571551|571553|573083|573084|573090|573093|573095|573099|573105|573108|573118|573126|573128|573767|573771|573772|573777|573782|575153|575154|575155|575156|575157|575158|575159|575160|575161|575162|575163|610162|615635|648949|648950|648951|648952|648953|648954|648955|648956|648957|648958|648959|648960|648961|648962|648963|648964|648965|648966|648967|648968|648969|648970|648971|648972|648973|648974|648975|648976|648977|648978|648979|648980|648981|648982|648983|653572|653660|653667|653830|653831|684901|684902|684903|689244|689246|689247|689248|694628|694629|695858|695859|705670|705671|745331|757788|757789|773310|773312|773317|776718|776947|821364|821365|821366|821367|821368|821369|848737|848738|848739|848740|848741|848742|848743|848744|848745|848746|848747|848748|848749|848750|848751|848752|848753|848754|848755|848756|848757|848758|848759|848760|848761|848762|848763|848764|848765|848766|848767|848768|848769|848770|848771|848772|848773|848774|848775|848776|848777|848778|848779|848780|848781|848782|848783|848784|848785|852399|852401|853004|853005|853006|857421|857422|857423|857424|886716|886717|886718|886719|886720|886721|886722|886723|886724|886725|886726|886727|886728|886729|886730|886731|886732|886733|886734|886735|886736|886737|886738|886739|886740|886741|886742|886743|886744|886745|886746|886747|886748|886749|886750|887503|919934|929308|929309|929310|929311|929312|929313|929314|929315|929316|929317|929318|939092|939093|939094|939095|939096|939097|939098|939099|939100|939101|939102|939103|939104|939105|939106|939107|939108|939109|939110|939111|939112|940516|940517|941260|951217|951218|951219|951220|951221|951222|951223|951224|951225|951226|951227|951228|951229|951230|951231|951232|951233|958945|958946|958947|958948|958949|958950|958951|958952|958953|958954|958955|960326|966896", + "text": "Familial platelet disorder with associated myeloid malignancy" + }, + { + "baseId": "29508", + "text": "Transient myeloproliferative disorder of Down syndrome" + }, + { + "baseId": "29508", + "text": "Leukemia, acute myeloid, m0 subtype" + }, + { + "baseId": "29513|29514|77643|205534|964520", + "text": "Acquired partial lipodystrophy" + }, + { + "baseId": "29513|29513|77643|205535|430166|430167|430168|468600|469514|469515|469516|469524|469526|469527|469977|469987|469989|469991|469992|469994|470001|470569|470579|470583|470590|532795|532797|532801|532803|532804|532807|532809|532813|532815|532816|532817|532824|532825|532828|532834|532870|532877|532879|533249|533253|533256|570621|570625|570632|572311|572318|572319|572321|572994|572996|572997|572999|574924|574925|574926|574927|574928|647869|647870|647871|647872|647873|647874|647875|647876|647877|647878|647879|647880|647881|647882|647883|647884|647885|647886|647887|647888|647889|647890|647891|647892|704887|704888|704889|704890|704891|716334|728079|728080|728081|745066|745228|756882|756883|756884|756885|756886|772556|772561|772563|776690|786126|793776|821246|847468|847469|847470|847471|847472|847473|847474|847475|847476|847477|847478|847479|847480|847481|847482|847483|928906|928907|928908|928909|928910|938624|938625|950726|950727|950728|950729|950730|950731|958584|958585|958586|958587|958588|958589", + "text": "Epilepsy, progressive myoclonic, 9" + }, + { + "baseId": "29513|77643|430166|430167|430168|468600|469514|469515|469516|469524|469526|469527|469977|469987|469989|469991|469992|469994|470001|470569|470579|470583|470590|532795|532797|532801|532803|532804|532807|532809|532813|532815|532816|532817|532824|532825|532828|532834|532870|532877|532879|533249|533253|533256|570621|570625|570632|572311|572318|572319|572321|572994|572996|572997|572999|574924|574925|574926|574927|574928|647869|647870|647871|647872|647873|647874|647875|647876|647877|647878|647879|647880|647881|647882|647883|647884|647885|647886|647887|647888|647889|647890|647891|647892|704887|704888|704889|704890|704891|716334|728079|728080|728081|745066|745228|756882|756883|756884|756885|756886|772556|772561|772563|776690|786126|793776|821246|847468|847469|847470|847471|847472|847473|847474|847475|847476|847477|847478|847479|847480|847481|847482|847483|928906|928907|928908|928909|928910|938624|938625|950726|950727|950728|950729|950730|950731|958584|958585|958586|958587|958588|958589", + "text": "Lipodystrophy, partial, acquired, susceptibility to" + }, + { + "baseId": "29515|77509|77510|77511|77512|134932|295100|295102|295107|296929|296930|296931|296937|296938|296939|296940|300561|300563|300566|300682|300700|300701|300702|300704|300706|300712|300718|892733|892734|892735|892736|892737|892738|892739|892740|892741|892742|892743|892744|892745|892746|892747|892748|896022|918915", + "text": "Leukodystrophy, adult-onset, autosomal dominant" + }, + { + "baseId": "29516|29517|29520|29521|29529|29530|29531|29534|29547|29550|29553|29563|29564|45141|45142|49658|57201|57207|57208|57212|57226|57227|57235|57242|57250|57252|77677|77746|77751|77815|77822|77828|172488|172489|196270|196461|196463|205007|213515|224183|226437|237758|238151|244232|276591|276609|276614|276876|277432|277441|277446|277453|277461|277537|481410|509122|556620|576413|609160|626918|672030|685575|822799|862419|862420|862421|862422|862423|864995", + "text": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" + }, + { + "baseId": "29517|57238|77759|213515|964644", + "text": "Limb-girdle muscular dystrophy, type 1B" + }, + { + "baseId": "29518|29520|29525|29527|29528|29529|29532|29533|29556|29557|29558|45141|45142|57201|57207|57208|57212|57226|57227|57235|57242|57250|57252|57256|77659|77677|77726|77730|77747|77765|77775|77785|172488|172489|196270|196461|196463|224183|226437|238151|244232|276591|276609|276614|276876|277432|277441|277446|277453|277461|277537|509122|556620|576413|626918|685575|862419|862420|862421|862422|862423|864995", + "text": "Familial partial lipodystrophy 2" + }, + { + "baseId": "29525|45135|57241|172880|196467|228276", + "text": "Laminopathy" + }, + { + "baseId": "29525|29531|49658", + "text": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" + }, + { + "baseId": "29526|29529|29538|29548|29552|29561|45141|45142|57201|57207|57208|57212|57226|57227|57235|57242|57250|57252|77677|106555|172488|172489|196270|196461|196463|224183|226437|238151|244232|276591|276609|276614|276876|277432|277441|277446|277453|277461|277537|509122|556620|576413|626918|685575|862419|862420|862421|862422|862423|864995", + "text": "Mandibuloacral dysplasia with type A lipodystrophy" + }, + { + "baseId": "29526|29529|29537|29539|29539|29540|29541|29555|31619|45141|45142|57201|57207|57208|57212|57226|57227|57235|57242|57250|57252|77677|77699|77746|77755|77766|77776|137877|137889|172110|172111|172112|172113|172114|172115|172116|172117|172118|172488|172489|189381|196270|196461|196463|205007|224183|226437|238151|244232|276591|276601|276609|276610|276614|276876|277430|277432|277433|277434|277441|277445|277446|277447|277453|277456|277461|277537|353062|509122|552036|556620|576413|613483|626918|672030|685575|789856|862419|862420|862421|862422|862423|864995", + "text": "Hutchinson-Gilford syndrome" + }, + { + "baseId": "29527|29546|181469", + "text": "Hutchinson-Gilford progeria syndrome, childhood-onset" + }, + { + "baseId": "29528|29556|276601|276610|277430|277433|277434|277445|277447|277456|353062", + "text": "Familial partial lipodystrophy" + }, + { + "baseId": "29529|45141|45142|57201|57207|57208|57212|57226|57227|57235|57242|57250|57252|77677|172488|172489|196270|196461|196463|224183|226437|238151|244232|276591|276601|276609|276610|276614|276876|277430|277432|277433|277434|277441|277445|277446|277447|277453|277456|277461|277537|353062|509122|556620|576413|626918|685575|862419|862420|862421|862422|862423|864995", + "text": "Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules" + }, + { + "baseId": "29529|29537|45141|45142|57201|57207|57208|57212|57226|57227|57235|57242|57250|57252|77677|77828|172488|172489|196270|196461|196463|224183|226437|238151|244232|276591|276609|276614|276876|277432|277441|277446|277453|277461|277537|509122|556620|576413|626918|626927|672030|685575|862419|862420|862421|862422|862423|864995", + "text": "Charcot-Marie-Tooth disease type 2B1" + }, + { + "baseId": "29529|45141|45142|57199|57201|57207|57208|57212|57226|57227|57235|57242|57250|57252|77677|172488|172489|176795|196270|196365|196461|196463|198545|198549|198550|198551|224183|226437|238151|243779|244232|267991|268805|270420|274788|276591|276601|276609|276610|276614|276876|277430|277432|277433|277434|277441|277445|277446|277447|277453|277456|277461|277537|299476|299490|301862|301890|301973|306312|306339|306415|306416|306417|306601|306602|320791|320814|320833|329859|329936|336359|336412|338232|338388|353062|438475|456964|456966|456973|456974|456977|456987|456993|456995|457015|457016|457018|457504|457509|457510|457619|457622|457623|457630|457631|457633|457635|457950|457952|457955|457959|457961|457965|457968|457970|457971|457973|457974|457975|470275|470278|470282|470287|470289|470290|470291|470298|470301|471128|471134|471136|471137|471140|471144|471584|471586|471587|471588|471590|471593|471968|471971|471974|509122|522860|522864|522868|523073|523074|523302|523305|523308|523312|523313|523395|523407|523410|523416|523424|534299|534301|534306|534314|534322|534323|534329|534334|534337|534462|534469|534475|534810|534812|534822|534829|534831|534834|556620|561765|561773|561776|561779|561781|561783|562214|562223|562230|562234|564423|564426|564428|564436|564440|567168|567170|567174|567187|571998|573409|574138|575270|575271|576413|626918|636356|636371|636372|636373|636374|636375|636376|636377|636378|636379|636380|636381|636382|636383|636384|636385|636386|636387|636388|649501|649502|649503|649504|649505|649506|649507|649508|649509|649510|649511|649512|653723|685575|689436|692311|692312|692313|692315|692316|692318|692319|692321|694741|694742|694743|694744|694746|695880|695881|695882|700262|700263|700266|705937|705940|731420|758090|758091|758093|773911|775370|780049|786754|787416|788091|819920|833873|833874|833875|833876|833877|833878|833879|833880|833881|833882|833883|849347|849348|849349|849350|849351|849352|849353|849354|849355|849356|849357|849358|849359|849360|849361|851926|852104|852377|862419|862420|862421|862422|862423|864995|924916|924917|924918|924919|924920|924921|924922|924923|924924|924925|929489|934004|934005|934006|934007|934008|934009|939318|940084|941281|945773|945774|951475|951476|951477|951478|951479|951480|955222|959096|959097|959098|959099|960638|980095|980096", + "text": "Emery-Dreifuss muscular dystrophy" + }, + { + "baseId": "29529|29549|29562|29563|29564|45137|45141|45142|57201|57207|57208|57212|57226|57227|57235|57242|57250|57252|77677|77759|77857|172488|172489|196270|196461|196463|213515|215103|224183|226437|238151|244232|269995|276591|276601|276609|276610|276614|276876|277430|277432|277433|277434|277441|277445|277446|277447|277453|277456|277461|277537|353062|447227|509122|513494|552035|552036|556620|576413|578366|626918|672030|685575|792654|862419|862420|862421|862422|862423|864995", + "text": "Congenital muscular dystrophy, LMNA-related" + }, + { + "baseId": "29537|540444|540463", + "text": "Autosomal recessive axonal hereditary motor and sensory neuropathy" + }, + { + "baseId": "29538|29542|29556|29559", + "text": "Mandibuloacral dysplasia with type A lipodystrophy, atypical" + }, + { + "baseId": "29538|276601|276610|277430|277433|277434|277445|277447|277456|280484|280486|280881|280882|282234|282235|282236|282440|353062", + "text": "Mandibuloacral dysplasia" + }, + { + "baseId": "29541|172113|172117|214091", + "text": "Hutchinson-Gilford progeria syndrome, atypical" + }, + { + "baseId": "29545|33496", + "text": "Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome" + }, + { + "baseId": "29568|29569|29570|29571|29572|29574|29574|178530|251205|251205|251207|251207|251208|251208|251210|251210|251212|251213|251214|251214|251215|251215|251216|251216|251217|251219|251219|251220|251220|251221|251223|251223|251224|251224|251225|251225|291063|291064|291065|291065|291067|291067|291068|291068|291076|291081|291082|291084|291084|291085|291085|291090|291092|291096|291097|291102|291103|291104|292016|292016|292027|292028|292029|292037|292038|292045|292045|292047|292054|292058|292059|292061|292062|295384|295384|295385|295393|295393|295402|295411|295412|295413|295414|295414|295415|295427|295427|295428|295428|295590|295590|295594|295596|295597|295598|295598|295601|295606|295606|295613|295614|295618|438242|443496|443496|452493|452493|452495|452497|452499|452499|452501|452502|452504|452504|452783|452783|452785|452787|452790|452793|452794|452794|452798|452798|452803|452803|452808|452811|452819|452825|452825|452839|452841|452841|452842|452842|452844|453042|453047|453051|453051|453056|453059|453072|496303|519387|519396|519399|519411|519411|519414|519589|519593|519596|519625|519626|519627|537425|537425|559032|559034|559036|559038|559564|559566|559568|559570|559570|559572|559572|561650|561653|561659|561661|561663|563055|563068|563075|576763|584722|631506|631507|631508|631509|631510|631511|631512|631513|631514|631515|631516|631516|631517|631518|631519|631520|631521|631522|631523|631524|631525|631526|631527|631528|631529|631530|631531|631532|631533|631534|631535|631536|631537|631538|631539|631540|631541|631542|631543|631544|691429|691429|691430|691431|691432|691433|691437|691437|691438|691438|691441|691441|691442|691443|691443|695206|695207|695207|695208|695210|695210|698164|698166|698167|698167|708924|720525|720525|734146|734149|748363|759214|777415|777415|781736|795449|828297|828298|828299|828300|828301|828302|828303|828304|828305|828306|828307|828308|828309|828310|828311|828312|828313|828314|828315|851460|889352|889353|889354|889355|889356|889357|889358|889359|889360|889361|889362|889363|889364|889365|889366|889367|889368|889369|889370|889371|889372|889373|889374|889375|889376|889377|889378|891685|891686|891687|891688|923256|923257|923258|923259|923260|932003|932004|932005|932006|932007|932008|932009|932010|932011|939949|943609|943610|943611|943612|943613|943614|943615|943616|943617|953523|953524|953525|953526|953527|953528|960516|963130|970202", + "text": "Pierson syndrome" + }, + { + "baseId": "29571|29573|29574|29574|29575|29576|29577|38729|251205|251205|251207|251207|251208|251208|251210|251210|251212|251213|251214|251214|251215|251215|251216|251216|251217|251219|251219|251220|251220|251221|251223|251223|251224|251224|251225|251225|291063|291064|291065|291065|291067|291067|291068|291068|291076|291081|291082|291084|291084|291085|291090|291092|291096|291097|291102|292016|292016|292027|292028|292029|292037|292038|292045|292045|292047|292054|292058|292059|292061|295384|295384|295385|295393|295402|295412|295413|295414|295414|295415|295427|295427|295428|295428|295590|295590|295596|295597|295598|295598|295601|295606|295606|295613|295614|438242|443496|443496|452493|452493|452495|452497|452499|452499|452501|452502|452504|452504|452783|452783|452785|452787|452790|452793|452794|452794|452798|452798|452803|452803|452808|452811|452819|452825|452825|452839|452841|452841|452842|452842|452844|453042|453047|453051|453051|453056|453059|453072|519387|519396|519399|519411|519411|519414|519589|519593|519596|519625|519626|519627|537425|537425|559032|559034|559036|559038|559564|559566|559568|559570|559570|559572|559572|561650|561653|561659|561661|561663|563055|563068|563075|576763|584722|612129|622875|623276|631506|631507|631508|631509|631510|631511|631512|631513|631514|631515|631516|631516|631517|631518|631519|631520|631521|631522|631523|631524|631525|631526|631527|631528|631529|631530|631531|631532|631533|631534|631535|631536|631537|631538|631539|631540|631541|631542|631543|631544|691429|691429|691430|691431|691432|691433|691437|691437|691438|691438|691441|691441|691442|691443|691443|695206|695207|695207|695208|695210|695210|698164|698166|698167|698167|708924|720525|720525|734146|734149|748363|759214|777415|777415|781736|795449|818226|818227|828297|828298|828299|828300|828301|828302|828303|828304|828305|828306|828307|828308|828309|828310|828311|828312|828313|828314|828315|851460|889352|889353|889354|889355|889356|889357|889358|889359|889360|889361|889362|889363|889364|889365|889366|889367|889368|889369|889370|889371|889372|889373|889374|889375|889376|889377|889378|891685|891686|891687|891688|923256|923257|923258|923259|923260|932003|932004|932005|932006|932007|932008|932009|932010|932011|939949|943609|943610|943611|943612|943613|943614|943615|943616|943617|953523|953524|953525|953526|953527|953528|960516|967233", + "text": "Nephrotic syndrome, type 5, with or without ocular abnormalities" + }, + { + "baseId": "29578|29580|178844|178845|178846|359226|380444|380445|540778", + "text": "Amelogenesis imperfecta, type IA" + }, + { + "baseId": "29578|29598|33855|192407|192764|249573|249574|249575|249576|249577|249578|249579|249580|249679|249680|249681|249682|249683|249684|249685|249688|249689|249691|249694|249695|259645|267151|267281|271754|274805|274810|274811|274812|277638|277645|277650|277651|277652|277667|277671|277672|277673|277674|277675|277685|277686|277693|277696|277707|277720|277723|277724|277742|277744|277747|277748|277781|277785|277786|277792|277793|277794|277795|277802|277808|277809|277811|277812|277814|277818|277819|277824|277827|277828|277836|277838|277839|278632|278634|278635|278636|278641|278642|278647|278649|278650|278654|278655|278660|278661|278663|278667|278669|278670|278671|278674|278675|278677|278681|278682|278683|278685|278688|278689|278691|278706|278713|278715|278717|278728|278729|278732|278737|278751|278753|278760|278762|278763|278764|278765|278768|278769|278777|278778|278781|278782|278783|278785|278787|278790|278791|278793|278795|278796|278797|278798|278800|278802|278803|278805|278810|278811|278812|278815|278816|278817|278819|278822|278823|278824|278827|278828|278829|278832|278833|278834|278839|278840|278847|278872|278874|278875|278876|278878|278881|279961|279968|279970|279974|279975|279986|279987|279994|279995|280018|280028|280029|280031|280033|280034|280035|280036|280037|280038|280040|280041|280042|280043|280065|280073|280082|280084|280098|280100|280101|280104|280106|280116|280139|280143|280144|280149|280155|280157|280158|309388|314061|320009|320493|320507|330874|330883|346751|353088|353089|357035|357037|357051|405022|497058|540686|540748|540776|620709|621706|654177|696310|696430|707057|707058|718592|731907|731912|732073|745880|745883|746041|746043|746048|761372|761376|761504|761508|761510|761511|761518|761520|761527|780466|862909|862910|862911|862912|862913|862914|862915|862916|862917|862918|862919|862920|862921|862922|862923|862924|862925|862926|862927|862928|862929|862930|862931|862932|862933|862934|862935|862936|862937|862938|862939|862940|862941|862942|862943|863390|863391|863392|863393|863394|863395|863396|863397|863398|863399|863400|863401|863402|863403|863404|863405|863406|863407|863408|863409|863410|863411|863412|863413|863414|863415|863416|863417|863418|863419|863420|863421|865044|865045|865046|865102|865103|865104|865105|961860", + "text": "Junctional epidermolysis bullosa" + }, + { + "baseId": "29601|29602|29603|29604|316663|316669|316672|324147|330140|330141|330143|330146|330147|330150|330161|330162|331552|331554|331555|331566|331567|331580|620439|869660|869661|869662|869663|869664|869665|869666|869667|869668|872226|872227", + "text": "Lactate dehydrogenase B deficiency" + }, + { + "baseId": "29605|29606|313482|313484|313490|313498|313501|313504|313512|313513|313517|319675|319681|319682|319684|319686|319720|319721|319724|325801|325802|325814|325834|325846|325848|325850|326868|326870|372321|374007|374008|461354|526157|549649|620397|851835|867701|867702|867703|867704|867705|867706|867707|867710|867711|867712|867713|867714|867715|867716|867717|867718|867719|867720|867721|868634|935454|964911", + "text": "Glycogen storage disease XI" + }, + { + "baseId": "29607|29608|29609|29610|29611|29612|29613|29614|29615|29615|29616|29617|29618|30946|30947|30948|30952|30953|30954|38719|38720|38721|77056|77518|77520|77556|77561|317865|317866|317877|317878|317884|317886|317888|317890|317901|317902|325742|325744|325757|325760|331990|331994|331999|332000|332003|332006|332018|332032|332034|333500|333506|333512|333518|360854|870136|870137|870138|870139|870140|870141|870142|870143|872262", + "text": "Bullous ichthyosiform erythroderma" + }, + { + "baseId": "29615|29619|30950|30951|977257", + "text": "Ichthyosis, cyclic, with epidermolytic hyperkeratosis" + }, + { + "baseId": "29615|29620|29621|29622|29623|539150", + "text": "Erythroderma, ichthyosiform, congenital reticular" + }, + { + "baseId": "29624|29669|29670", + "text": "Cirrhosis, cryptogenic" + }, + { + "baseId": "29624|29669", + "text": "Cirrhosis, noncryptogenic, susceptibility to" + }, + { + "baseId": "29625|29626|29627|29629|29630|29631|29632|29633|29634|29635|29637|29638|260166|508877", + "text": "Pachyonychia congenita 2" + }, + { + "baseId": "29626", + "text": "Pachyonychia congenita syndrome" + }, + { + "baseId": "29628|29629|29630", + "text": "Steatocystoma multiplex" + }, + { + "baseId": "29639|29640|29641|29641|29642|29643|29644|29645|29646|29647|29648|77505|165833|213644|578544", + "text": "Pachyonychia congenita 1" + }, + { + "baseId": "29640|29641|29641|29649|77863|132049", + "text": "Palmoplantar keratoderma, nonepidermolytic, focal" + }, + { + "baseId": "29650|29656|29678|29680|29682|29685|29691|77110|259239|259240|259241|354282|432310", + "text": "Epidermolysis bullosa simplex, Koebner type" + }, + { + "baseId": "29651|29652|29658|29660|29661|29662|29667|29677|29684|29689|34026|260024", + "text": "Epidermolysis bullosa simplex Dowling-Meara type" + }, + { + "baseId": "29651|77095|77110|77120|77121|77131|77161|77172|77174|77179|77180|236895|254617|254618|254619|254620|317780|317783|317788|317792|317796|317797|317799|317801|317804|317805|317806|317814|317816|317817|325682|325688|325689|325698|331905|331909|331911|331912|331913|331914|331927|331928|333432|333436|333437|333440|333443|333444|333449|333456|333460|612096|713585|870102|870103|870104|870105|870106|870107|870108|870109|870110|870111|870112|870113|870114|870115|870116|870117|870118|872259", + "text": "Epidermolysis bullosa simplex" + }, + { + "baseId": "29653|29655|29659|29696|29697|77234|77266|77278|77282", + "text": "Epidermolysis bullosa simplex, autosomal recessive" + }, + { + "baseId": "29659|29679|29680|29681|29683|29690|29696|29780|34026|77123|77195|77198|227396|329900|919771", + "text": "Localized epidermolysis bullosa simplex" + }, + { + "baseId": "29665", + "text": "Dermatopathia pigmentosa reticularis" + }, + { + "baseId": "29668|77648|328354|328355|328356|328358|328361|328364|328365|328369|328372|328374|328375|338262|338266|338278|338280|338282|338283|338291|338294|338301|338305|338307|338308|344363|344366|344368|344369|344370|344378|344379|344382|345799|345802|345803|345804|345807|345813|345815|345816|877404|877405|877406|877407|877408|877409|877410|877411|877412|877413|877414|877415|877416|877417|877418|877419", + "text": "White sponge nevus 2" + }, + { + "baseId": "29671|77645|77646", + "text": "Meesmann corneal dystrophy 2" + }, + { + "baseId": "29672|791259|804902", + "text": "Pachyonychia congenita 4" + }, + { + "baseId": "29673|29674|29675|29676|77473|77482|77483|77485|77486|77488|165831|816294|920318", + "text": "Pachyonychia congenita 3" + }, + { + "baseId": "29686|77132|970970", + "text": "Dowling-Degos disease 1" + }, + { + "baseId": "29687|34026", + "text": "Epidermolysis bullosa simplex with mottled pigmentation" + }, + { + "baseId": "29692", + "text": "Epidermolysis bullosa simplex, Dowling-Meara type, with severe palmoplantar keratoderma" + }, + { + "baseId": "29693", + "text": "Epidermolysis bullosa simplex, generalized, with severe palmoplantar keratosis" + }, + { + "baseId": "29694", + "text": "Epidermolysis bullosa simplex with migratory circinate erythema" + }, + { + "baseId": "29698", + "text": "Kallikrein, decreased urinary activity of" + }, + { + "baseId": "29699", + "text": "Soluble interleukin-6 receptor, serum level of, quantitative trait locus" + }, + { + "baseId": "29699", + "text": "Interleukin 6, serum level of, quantitative trait locus" + }, + { + "baseId": "29701|362909|576133", + "text": "Polycythemia vera" + }, + { + "baseId": "29701", + "text": "Budd-Chiari syndrome, susceptibility to, somatic" + }, + { + "baseId": "29701|38718|138296|576133", + "text": "Thrombocythemia 3" + }, + { + "baseId": "29701|31634|31635|31636|31637|31638|31639|31640|39403|263756|263757|263758|332494|332495|332497|332499|332503|332504|332505|332510|332512|342718|342720|342721|342723|342728|342731|342732|348066|348067|348074|348076|348085|348086|349347|349349|349350|349351|349352|349355|349356|493110|611368|727892|879869|879870|879871|879872|879873|879874|879875|879876|879877|879878|879879|879880|879881|879882|879883|879884|879885|880689|880690", + "text": "Primary familial polycythemia due to EPO receptor mutation" + }, + { + "baseId": "29701|31381|362830|363045|363095|363584|363585|801063|857631", + "text": "Myeloproliferative disorder" + }, + { + "baseId": "29701", + "text": "Subacute lymphoid leukemia" + }, + { + "baseId": "29701|171079", + "text": "Polycythemia (disease)" + }, + { + "baseId": "29703", + "text": "ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC" + }, + { + "baseId": "29704", + "text": "Atopy, susceptibility to" + }, + { + "baseId": "29705|29706", + "text": "Atopy, resistance to" + }, + { + "baseId": "29705", + "text": "Acquired immunodeficiency syndrome, slow progression to" + }, + { + "baseId": "29707|199915|199916|199917|199918|266233|266237|310549|310556|310559|310573|310579|310580|310592|310594|315708|315709|315710|315719|315720|315721|315722|315725|315726|315731|321766|321771|321772|321786|321793|321794|321801|321805|321806|321809|321815|321817|321820|321821|321833|321834|321841|321842|321846|322449|322461|322463|322466|322467|322468|322475|322478|322479|322480|322483|322497|322499|322503|322504|322505|353130|425881|459939|460364|525187|525193|525376|564622|566349|569683|569689|614349|614349|620822|638977|638978|638979|638980|638981|638982|638983|638984|652140|652142|723992|723997|737543|759979|767836|783648|790969|820224|836986|836987|836988|836989|836990|866011|866012|866013|866014|866015|866016|866017|866018|866019|866020|866021|866022|866023|866024|866025|866026|866027|866028|866029|866030|866031|866032|866033|866034|866035|866036|866037|868481|868482|868483|925838|925839|925840|946952|946953|956112|956113", + "text": "Interleukin 2 receptor, alpha, deficiency of" + }, + { + "baseId": "29708", + "text": "TYPE 1 DIABETES MELLITUS, INSULIN-DEPENDENT, 10" + }, + { + "baseId": "29709|614349", + "text": "Diabetes mellitus, insulin-dependent, 10" + }, + { + "baseId": "29710|29713", + "text": "Gastric cancer susceptibility after h. pylori infection" + }, + { + "baseId": "29712", + "text": "Allergic rhinitis, susceptibility to" + }, + { + "baseId": "29713", + "text": "Microvascular complications of diabetes 4" + }, + { + "baseId": "29714|29715|29716|29717|281612|281619|281620|281623|281625|281629|281631|282290|282294|282295|282296|282300|282302|283641|283643|283652|283653|283658|283664|283679|283680|283681|283682|283695|283700|283709|283712|283874|283875|283884|283906|283922|283926|448759|516305|516313|516317|516358|516359|550254|557490|557492|558703|558705|559188|628416|628417|628418|628419|732721|746742|762163|774568|780809|798957|816305|819044|824720|824721|880876|880877|880878|880879|880880|880881|880882|880883|882784|882785|922228|922229|942214|942215|942216|942217", + "text": "Osteomyelitis, sterile multifocal, with periostitis and pustulosis" + }, + { + "baseId": "29718|29722|29723|29724|29726|29731|29733|29734|29735|29736|29743|29746|29747|190228|190728|191864|191865|192203|195858|208628|208629|208630|208634|208636|208637|208639|208640|266492|270523|273448|334529|334531|334532|334533|334537|334540|334542|334544|334546|334548|334556|334557|334558|334561|334574|334575|334577|334580|334582|334585|334587|334591|334593|334595|334603|334604|334608|334611|334614|334616|334631|334632|334648|334652|334655|334664|334665|334666|344387|344388|344391|344402|344403|344404|344415|344416|344419|344427|344429|344436|344438|344443|344445|344450|344451|344455|344457|344461|344463|344466|344468|344470|344472|344473|344474|344475|344483|344484|344486|344495|344496|344498|344500|344502|344504|344506|349475|349476|349478|349480|349481|349483|349484|349486|349487|349488|349490|349492|349493|349496|349499|349500|349502|349503|349504|349506|349509|349512|349514|349519|349522|349523|349526|349529|349530|349537|349538|349540|350477|350479|350480|350483|350484|350487|350489|350491|350493|350495|350496|350497|350502|350506|350507|350511|350514|350517|350519|350520|350523|350526|350531|350536|350539|350540|350543|350544|350546|350547|350549|350550|353528|353529|430269|430271|430272|430276|493723|540035|540035|583525|619930|716760|745301|757309|757316|757317|757318|786303|791962|791963|791964|882612|882613|882614|882615|882616|882617|882618|882619|882620|882621|882622|882623|882624|882625|882626|882627|882628|882629|882630|882631|882632|882633|882634|882635|882636|882637|882638|882639|882640|882641|882642|882643|882644|882645|882646|882647|882648|882649|882650|882651|882652|882653|882654|882655|882656|882657|882658|882659|882660|882661|882662|882663|882664|882665|882666|882667|882668|882669|882670|882671|882672|882673|882674|882675|882676|882677|882678|882954|882955|964527", + "text": "Insulin-resistant diabetes mellitus AND acanthosis nigricans" + }, + { + "baseId": "29719|29720|29721|29725|29728|29732|29738|29740|29741|29742|29744|29745|29746|29749|29750|29753|190228|190728|191864|191865|192203|195858|208629|208630|208634|208636|208637|208639|208640|266492|273448|334529|334531|334532|334533|334537|334540|334542|334544|334546|334548|334556|334557|334558|334561|334574|334575|334577|334580|334582|334585|334587|334591|334593|334595|334603|334604|334608|334611|334614|334616|334631|334632|334648|334652|334655|334664|334665|334666|344387|344388|344391|344402|344403|344404|344415|344416|344419|344427|344429|344436|344438|344443|344445|344450|344451|344455|344457|344461|344463|344466|344468|344470|344472|344473|344474|344475|344483|344484|344486|344495|344496|344498|344500|344502|344504|344506|349475|349476|349478|349480|349481|349483|349484|349486|349487|349488|349490|349492|349493|349496|349499|349500|349502|349503|349504|349506|349509|349512|349514|349519|349522|349523|349526|349529|349530|349537|349538|349540|350477|350479|350480|350483|350484|350487|350489|350491|350493|350495|350496|350497|350502|350506|350507|350511|350514|350517|350519|350520|350523|350526|350531|350536|350539|350540|350543|350544|350546|350547|350549|350550|353528|353529|430269|430271|430272|430276|493723|495914|495915|540035|540035|583525|584427|619930|619931|716760|745301|757309|757316|757317|757318|786303|882612|882613|882614|882615|882616|882617|882618|882619|882620|882621|882622|882623|882624|882625|882626|882627|882628|882629|882630|882631|882632|882633|882634|882635|882636|882637|882638|882639|882640|882641|882642|882643|882644|882645|882646|882647|882648|882649|882650|882651|882652|882653|882654|882655|882656|882657|882658|882659|882660|882661|882662|882663|882664|882665|882666|882667|882668|882669|882670|882671|882672|882673|882674|882675|882676|882677|882678|882954|882955|904884", + "text": "Leprechaunism syndrome" + }, + { + "baseId": "29726|29748|263347|553407|553409", + "text": "Insulin resistance" + }, + { + "baseId": "29729", + "text": "Insulin-resistant diabetes mellitus" + }, + { + "baseId": "29730|29731|29746|29751|29752|190228|190728|191864|191865|192203|195858|205413|208629|208630|208634|208636|208637|208639|208640|266492|273448|334529|334531|334532|334533|334537|334540|334542|334544|334546|334548|334556|334557|334558|334561|334574|334575|334577|334580|334582|334585|334587|334591|334593|334595|334603|334604|334608|334611|334614|334616|334631|334632|334648|334652|334655|334664|334665|334666|344387|344388|344391|344402|344403|344404|344415|344416|344419|344427|344429|344436|344438|344443|344445|344450|344451|344455|344457|344461|344463|344466|344468|344470|344472|344473|344474|344475|344483|344484|344486|344495|344496|344498|344500|344502|344504|344506|349475|349476|349478|349480|349481|349483|349484|349486|349487|349488|349490|349492|349493|349496|349499|349500|349502|349503|349504|349506|349509|349512|349514|349519|349522|349523|349526|349529|349530|349537|349538|349540|350477|350479|350480|350483|350484|350487|350489|350491|350493|350495|350496|350497|350502|350506|350507|350511|350514|350517|350519|350520|350523|350526|350531|350536|350539|350540|350543|350544|350546|350547|350549|350550|353528|353529|423235|430269|430271|430272|430276|493723|540035|540035|583525|619930|716760|745301|757309|757316|757317|757318|786303|882612|882613|882614|882615|882616|882617|882618|882619|882620|882621|882622|882623|882624|882625|882626|882627|882628|882629|882630|882631|882632|882633|882634|882635|882636|882637|882638|882639|882640|882641|882642|882643|882644|882645|882646|882647|882648|882649|882650|882651|882652|882653|882654|882655|882656|882657|882658|882659|882660|882661|882662|882663|882664|882665|882666|882667|882668|882669|882670|882671|882672|882673|882674|882675|882676|882677|882678|882954|882955", + "text": "Pineal hyperplasia AND diabetes mellitus syndrome" + }, + { + "baseId": "29746|94325|252632|254638|254639|254641|254642|254643|254645|413341|413342|462372|462373|463084|463089|513322|527296|527299|527302|527304|527581|527586|550572|566965|566973|568139|568140|571952|571958|641296|641297|641298|641299|641300|641301|641302|652259|678969|693249|693250|693251|695576|769240|778103|820509|840125|840126|840127|840128|840129|840130|840131|840132|840133|840134|840135|840136|840137|840138|851517|926686|926687|926688|941037|948112|948113|948114|948115|956910", + "text": "Bailey-Bloch congenital myopathy" + }, + { + "baseId": "29747|208635|266492|430269|493723|540035", + "text": "Hyperinsulinemic hypoglycemia familial 5" + }, + { + "baseId": "29755|29756|169178|169179|169181|169182|169184|208230|208231|208232|208233|429747|550029|643629|643630|643631|714686|714687|726342|726343|739875|770416|776102|779729|816480|842801|842802|920348|927460|927461|937116|949058", + "text": "D-2-hydroxyglutaric aciduria 2" + }, + { + "baseId": "29757", + "text": "Kaposi sarcoma, susceptibility to" + }, + { + "baseId": "29757", + "text": "Crohn disease-associated growth failure, susceptibility to" + }, + { + "baseId": "29757", + "text": "Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to" + }, + { + "baseId": "29758", + "text": "INTERLEUKIN 6 POLYMORPHISM" + }, + { + "baseId": "29761", + "text": "Tsc2 angiomyolipomas, renal, modifier of" + }, + { + "baseId": "29763", + "text": "Acquired immunodeficiency syndrome, rapid progression to" + }, + { + "baseId": "29764", + "text": "Hepatitis C virus infection, response to therapy of" + }, + { + "baseId": "29765|29766|29767|45039|45859|116913|116928|116929|116932|116941|116942|438866|469579|469583|471138|471141|533796|533806|533822|533836|534328|571512|573068|573070|573074|573763|624690|648936|648937|648938|648939|648940|648941|653244|728865|728866|742595|757752|757753|848727|848728|848729|848730|853003|929306|929307|939088|939089|939090|951213|975708|975724", + "text": "Immunodeficiency 28" + }, + { + "baseId": "29768|29769|29770|29771|29772|29773|29774|29775|29776|29777|29778|29781|29782|29783|29784|205186|205421|227223|227396|256412|256413|282905|282907|282917|282918|282924|282925|282930|282931|282934|282938|282948|282953|282955|283691|283693|283694|283697|283698|283699|283701|283704|283705|283735|283739|283740|283741|283742|283745|283746|283747|283755|283763|283766|283767|283769|285237|285262|285264|285266|285271|285272|285274|285275|285278|285279|285280|285283|285315|285316|285317|285334|285342|285343|285344|285353|285354|285366|285371|285372|285374|285389|285786|285795|285796|285797|285798|285801|285802|285803|285804|285805|285807|285809|285812|285816|285817|329836|329856|329864|329866|329867|329869|329872|329873|329877|329878|329882|329885|329886|329887|329894|329896|329900|329901|329904|329905|329907|329908|329921|329922|329925|329928|329929|329930|329940|329941|340158|340160|340162|340163|340165|340171|340174|340176|340179|340181|340187|340197|340198|340201|340203|340205|340210|340212|340214|345853|345857|345865|345868|345869|345870|345871|345873|345876|345877|345880|345885|345886|345888|345889|345890|345891|345895|345902|345903|345905|345906|345909|345910|345914|345917|345918|345923|345929|345931|345935|347222|347223|347230|347231|347232|347235|347238|347241|347242|347243|347250|347251|347253|347254|347256|347258|347259|347264|347265|347272|347276|347277|347280|347282|389207|468839|582781|612187|620036|620037|620889|620890|704376|715705|715707|719409|727435|727437|732940|741024|741028|741029|741031|741033|741034|741036|743848|746949|756128|762422|791827|878434|878435|878436|878437|878438|878439|878440|878441|878442|878443|878444|878445|878446|878447|878448|878449|878450|878451|878452|878453|878454|878455|878456|878457|878458|878459|878460|878461|878462|878463|878464|878465|878466|878467|878468|878469|878470|878471|878472|878473|878474|878475|878476|878477|878478|878479|878480|878481|878482|878483|878484|878485|878486|880579|880580|880581|880582|880583|880584|880585|880586|880587|880588|880589|880590|881587|881588|881589|881590|881591|881592|881593|881594|881595|881596|881597|881598|881599|881600|881601|881602|881603|881604|881605|881606|881607|881608|881609|881610|881611|881612|881613|881614|881615|881616|881617|882848|882849|882850|882851|882852|882853|882854|904220|962182|962192", + "text": "Epidermolysis bullosa junctionalis with pyloric atresia" + }, + { + "baseId": "29785|29786|214743|214744|214745|410739|425229|439174|469334|470313|470321|470322|470329|470331|470868|470871|470873|471377|533431|533473|533474|533479|533519|533521|533526|533528|533529|533530|533531|533537|534039|534043|534046|534056|571173|571174|572870|572874|573477|573482|573484|648602|648603|648604|648605|648606|653090|653207|653540|653644|653645|716897|716898|742314|773029|773031|780041|791974|791975|848278|848279|848280|848281|848282|851845|929152|938930|938931|940500|951030|951031|951032", + "text": "Inosine triphosphatase deficiency" + }, + { + "baseId": "29785|29786", + "text": "peginterferon alfa-2b and ribavirin response - Toxicity/ADR" + }, + { + "baseId": "29785", + "text": "interferon alfa-2b, recombinant and ribavirin response - Dosage, Toxicity/ADR" + }, + { + "baseId": "29786", + "text": "azathioprine response - Toxicity/ADR" + }, + { + "baseId": "29787|29788|29789", + "text": "INSULIN-LIKE GROWTH FACTOR II POLYMORPHISM" + }, + { + "baseId": "29790", + "text": "SUPEROXIDE DISMUTASE 2 POLYMORPHISM" + }, + { + "baseId": "29790", + "text": "Microvascular complications of diabetes 6" + }, + { + "baseId": "29790|339355", + "text": "cyclophosphamide response - Efficacy" + }, + { + "baseId": "29791|29800|29823|34335|194306|196284|260865|260866|260867|260868|260869|260870|260871|260872|260873|260874|260875|260876|260877|260878|260879|260880|260881|260882|260883|260884|260885|260886|260887|260888|260889|260890|260891|260892|260893|260894|260895|540449", + "text": "Motor neuron disease" + }, + { + "baseId": "29805|29806|29822", + "text": "Amyotrophic lateral sclerosis 1, autosomal recessive" + }, + { + "baseId": "29805|101563|138100|138105|138106|138109|253530|253535|257862|275813|275835|275846|275852|275853|275859|275867|275874|275875|275885|275924|275994|276114|301223|307148|308234|311342|312615|312633|316839|316886|317274|318533|318542|319067|325125|325141|334817|335933|335979|336000|339510|339513|339516|341312|342768|342779|342814|342820|345642|345650|345651|345654|345735|345740|345745|345747|349006|349009|349010|350179|350191|350195|350203|350220|351241|351252|351255|351273|351279|352384|352385|352933|352934|352935|352936|353027|353589", + "text": "Amyotrophic Lateral Sclerosis, Dominant" + }, + { + "baseId": "29826|29827|29828|132700|192256|272303|315777|315778|315783|315785|315786|315790|315792|315793|315794|315797|315798|315799|315806|315807|315811|315812|315820|315821|315822|315823|315825|315826|315837|322844|322847|322859|322871|322872|322875|322881|322885|322897|322899|322903|322905|322906|322907|322911|322912|322913|322919|322925|328881|328883|328889|328890|328907|328913|328921|328922|328925|328929|328945|328946|328948|328951|328959|328960|328967|328970|328971|328977|328981|328982|328986|328988|330126|330127|330131|330137|330139|330142|330151|330159|330163|330166|330175|330183|330185|330186|330187|330189|702060|738394|805022|818294|869086|869087|869088|869089|869090|869091|869092|869093|869094|869095|869096|869097|869098|869099|869100|869101|869102|869103|869104|869105|869106|869107|869108|869109|869110|869111|869112|869113|869114|869115|869116|869117|869118|869119|869120|869121|869122|869123|869124|869125|869126|869127|869128|869129|869130|869131|869132|869133|869134|869135|869136|869137|869138|869139", + "text": "Growth delay due to insulin-like growth factor type 1 deficiency" + }, + { + "baseId": "29829|29830|29831|29832|29833|190981|191348|191773|192262|192729|192731|195269|196202|265408|266452|266569|268529|268807|271673|323603|323611|323612|323619|323620|323622|323624|323633|323634|323636|323642|323643|323646|323648|323657|323659|323660|323663|323666|323670|323672|323673|323675|323678|323679|323680|323682|323684|323687|323691|323709|323712|323717|323718|323719|323720|323728|323735|323741|323755|323756|323762|323764|323766|323774|323775|323786|323790|323791|323794|323798|323801|323802|323805|323806|323810|323811|323812|323816|323819|323820|323821|323829|323835|323839|323840|323842|323844|333329|333338|333339|333341|333342|333350|333351|333355|333357|333359|333360|333374|333376|333380|333381|333390|333392|333393|333399|333401|333404|333408|333412|333421|333423|333428|333429|333431|333433|333439|333445|333447|333450|333451|333463|333465|333467|333472|333475|333486|333490|333495|333502|333509|333511|333514|333517|333523|333525|333528|333529|340116|340117|340118|340119|340124|340126|340127|340129|340132|340133|340137|340138|340139|340143|340144|340149|340150|340157|340161|340164|340166|340167|340168|340169|340170|340172|340177|340178|340184|340185|340186|340188|340190|340195|340196|340200|340202|340204|340207|340209|340215|340216|340218|340220|340224|340225|340226|340230|340238|340239|340244|340246|340248|340249|340250|340251|340252|340253|340254|340255|340256|340257|341556|341557|341561|341562|341564|341566|341567|341569|341572|341573|341575|341577|341578|341584|341586|341588|341590|341591|341594|341595|341596|341599|341601|341602|341604|341605|341612|341614|341615|341621|341624|341625|341626|341627|341628|341635|341636|341638|341639|341641|341643|341644|341649|341651|341653|353334|353335|440330|440331|440332|440333|489117|492694|493391|538449|587925|589734|622430|623654|623655|623656|623657|623658|623659|623660|623661|623662|726370|726372|726374|731034|739904|739908|744934|754822|754825|770461|779744|785080|788893|874336|874337|874338|874339|874340|874341|874342|874343|874344|874345|874346|874347|874348|874349|874350|874351|874352|874353|874354|874355|874356|874357|874358|874359|874360|874361|874362|874363|874364|874365|874366|874367|874368|874369|874370|874371|874372|874373|874374|874375|874376|874377|874378|874379|874380|874381|874382|874383|874384|874385|874386|874387|874388|874389|874390|874391|874392|874393|874394|874395|874396|874397|874398|874399|874400|874401|874402|874403|874404|874405|874406|874407|874408|874409|874410|874411|874412|874413|874414|874415|874416|874417|874418|874419|874420|874421|874422|874423|874424|874425|874426|874427|874428|874429|874430|874431|874432|874433|874434|874435|874436|874437|874438|874439|874440|874441|874442|874443|874444|874445|874446|874447|874448|874449|874450|874451|874452|874453|874454|874455|874456|874457|874458|874459|874460|874461|874462|874463|874464|874465|874466|874467|874468|874469|874470|874471|874472|874473|874474|874475|874476|874477|874478|874479|874480|874481|874482|874483|876597|876598|876599|876600|876601|919605|961325|961656|964437|964438|964439|965743", + "text": "Growth delay due to insulin-like growth factor I resistance" + }, + { + "baseId": "29839|29840|225849|259766|440803|508732|511499|550873|793021|970770", + "text": "Spinocerebellar Ataxia Type 15" + }, + { + "baseId": "29841|29842|137577|467196|468149|531447|531451|569477|572001|574566|614442|646384|646385|646386|646387|646388|704283|727343|731174|740938|756022|760470|779824|845847|845848|845849|928438|938117|950134|958237", + "text": "Agammaglobulinemia 6, autosomal recessive" + }, + { + "baseId": "29843", + "text": "IMMUNOGLOBULIN KAPPA LIGHT CHAIN POLYMORPHISM Inv1" + }, + { + "baseId": "29844", + "text": "IMMUNOGLOBULIN KAPPA LIGHT CHAIN POLYMORPHISM Inv2" + }, + { + "baseId": "29845", + "text": "IMMUNOGLOBULIN KAPPA LIGHT CHAIN POLYMORPHISM Inv3" + }, + { + "baseId": "29846", + "text": "Atopic asthma, susceptibility to" + }, + { + "baseId": "29847", + "text": "Immunoglobulin IgG2 deficiency" + }, + { + "baseId": "29853|29854|48029|48031|194358|247051|266227|269232|270570|312436|312438|312439|312443|312453|312454|312455|312459|312460|312461|312465|318321|318324|318325|318326|318338|318353|318356|318357|318358|318359|318360|318366|324452|324454|324456|324465|324468|324471|324473|324476|324477|324478|324483|324484|324491|324507|324509|324511|324512|324516|324517|325206|325207|325208|325209|325211|325215|325216|325226|325227|325241|460898|460899|460914|460933|460942|461229|461716|461720|490830|491185|525919|525921|525924|525995|526003|526004|526079|526083|526086|526417|526420|564442|567052|570306|570308|584147|639722|639723|639724|639725|639726|639727|639728|639729|639730|639731|639732|639733|639734|639735|712626|724210|724211|724212|737750|737751|737752|752446|752447|768220|791102|818393|818394|838005|838006|838007|838008|838009|838010|838011|838012|838013|838014|838015|838016|838017|838018|867068|867069|867070|867071|867072|867073|867074|867075|867076|867077|867078|867079|867080|867081|867082|867083|867084|868605|926131|926132|935401|935402|947330|947331|947332|956394|956395|956396", + "text": "Inflammatory bowel disease 28, autosomal recessive" + }, + { + "baseId": "29856|29857|29858|29859|29860|29861|48057|48057|131928|131928|190331|192273|193473|237026|249407|249408|249409|269259|269259|271648|271648|276509|276510|276511|276512|276530|276531|276532|276534|276535|276538|276541|276542|276543|276543|276551|276554|276558|276558|276562|276562|276571|276572|276742|276747|276749|276757|276759|276760|276768|276770|276773|276774|276782|276784|276785|276793|276794|276794|276800|276807|276807|276814|276816|276824|276825|276825|276829|276830|276830|276834|277325|277335|277338|277339|277340|277342|277345|277348|277350|277354|277355|277361|277364|277369|277373|277373|277374|277374|277381|277381|277382|277382|277384|277413|277415|277417|277418|277419|277437|277438|277439|277440|277442|277442|277448|277450|277450|277451|277457|277464|277464|277465|277465|277470|364461|364502|404940|447149|447303|511176|515098|515130|515133|515148|515152|515236|515244|515245|515250|556606|556608|556610|556661|556663|556665|556667|558134|558136|626873|626873|626874|626875|626876|626877|626878|626879|626880|626881|626882|626883|626884|626885|626886|626887|626888|626889|626890|626891|626892|650630|690363|690364|690367|690369|690371|690372|690374|695001|696128|696131|696132|696133|718251|729922|743713|777034|780340|789849|789850|789851|794432|794433|822768|822769|822770|822771|822772|822773|822774|822775|822776|822777|822778|822779|822780|822781|862359|862360|862361|862362|862363|862364|862365|862366|862367|862368|862369|862370|862371|862372|862373|862374|862375|862376|862377|862378|862379|862380|862381|862382|862383|862384|862385|862386|862387|862388|862389|862390|862391|862392|862393|862394|862395|862396|864984|864985|864986|864987|864988|921660|921661|921662|921663|930055|930056|930057|941473|941474|941475|941476|941477|941478|941479|941480|941481|941482|941483|941484|941485|941486|941487|952084|952085|952086|952087|952088|952089|959522|980436", + "text": "Symmetrical dyschromatosis of extremities" + }, + { + "baseId": "29862", + "text": "Lupus nephritis, susceptibility to" + }, + { + "baseId": "29862", + "text": "Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis" + }, + { + "baseId": "29862", + "text": "Malaria, severe, susceptibility to" + }, + { + "baseId": "29862|227742", + "text": "trastuzumab response - Efficacy" + }, + { + "baseId": "29863|29864|237583|433637|433638|433639|433640|433641|469908|469910|469911|469912|469913|470911|471373|534061|534063|534071|534073|534078|534080|534156|534158|538496|571711|571712|571714|571715|571717|573201|573275|573278|573953|573954|575201|575216|610168|649202|649203|649204|649205|649206|649207|649208|653596|705819|705820|717349|717350|717351|729059|729060|729061|729062|729063|742784|757986|757987|773451|849078|849079|849080|849081|849082|849083|929408|929409|939210|951359|959035|959036|959037", + "text": "Agammaglobulinemia 2, autosomal recessive" + }, + { + "baseId": "29865", + "text": "IGG receptor I, phagocytic, familial deficiency of" + }, + { + "baseId": "29867|614187", + "text": "Immunodeficiency 20" + }, + { + "baseId": "29872", + "text": "Impdh2 enzyme activity, variation in" + }, + { + "baseId": "29873|29874|29875|190982|248646|551553|818253", + "text": "Retinitis pigmentosa 10" + }, + { + "baseId": "29876|29877|190982|190982|191349|191774|194330|301832|301833|301839|301840|301844|301845|304990|304997|305010|305021|305023|309672|309673|309674|309675|309676|309681|309683|309793|309795|309815|309818|309819|309821|309824|309845|360887|444052|551553|623976|692130|699814|699816|722294|735938|777623|777625|801405|832961|832967|897395|897396|897397|897398|897399|897400|897401|897402|897403|897404|897405|897406|897407|897408|897409|897410|897411|897412|897413|897414|897415|897416|897417|897418|897419|897420|897421|900309|900310|900311|900312|919072|919073|919074", + "text": "Leber congenital amaurosis 11" + }, + { + "baseId": "29889|29890|29891|29892|29893|29894|29895|29896|29897|29898|226665|428696", + "text": "Currarino triad" + }, + { + "baseId": "29899|29900", + "text": "Microphthalmia, cataracts, and iris abnormalities" + }, + { + "baseId": "29900|29901|29902|177410|178152|190674|195056|195057|265563|269268|274085|321288|321289|321293|321295|321297|321299|330480|330482|330483|330485|330487|330488|330491|330493|330500|330506|337020|337037|337040|337046|337048|337059|337060|337063|337068|337070|337072|337073|338954|338961|338966|338970|338971|338972|338976|338981|338996|338997|339002|339003|339007|339009|463476|464354|464355|464476|490994|528796|528803|569013|584936|642679|652424|693593|693594|693595|693596|693597|714230|739309|754144|754145|754146|769901|769902|769903|784779|841719|841720|872522|872523|872524|872525|872526|872527|872528|872529|872530|872531|872532|872533|872534|872535|872536|872537|872538|872539|872540|872541|876440|876441|876442|876443|936706|936707|957294|957295", + "text": "Microphthalmia, isolated 2" + }, + { + "baseId": "29901|29903|78970|177410|178152|195056|195057|269268|321288|321289|321293|321295|321297|321299|330480|330482|330483|330485|330487|330488|330491|330493|330500|330506|337020|337037|337040|337046|337048|337059|337060|337063|337068|337070|337072|337073|338954|338961|338966|338970|338971|338972|338976|338981|338996|338997|339002|339003|339007|339009|464355|464476|693593|693594|693595|754144|872522|872523|872524|872525|872526|872527|872528|872529|872530|872531|872532|872533|872534|872535|872536|872537|872538|872539|872540|872541|876440|876441|876442|876443", + "text": "Microphthalmia, isolated, with coloboma 3" + }, + { + "baseId": "29901|171866|177410|190674|263187|265563|321288|330485|337020|338972|424443|424444|464355|528803|625774|693593|693594|693596|754144|754145|754146|769902|769903|822308|957295|979522|979523|979524|979525|979526", + "text": "Microphthalmia" + }, + { + "baseId": "29901|313870|320062|320088|320089|320100|320112|320165|320174|320199|327204|327217|327218|327272|424445|802092|802093|802094", + "text": "Anophthalmia" + }, + { + "baseId": "29904|190108", + "text": "Oculoauricular syndrome" + }, + { + "baseId": "29906|29907|29910|29911|29915|227486|227487|227488|227489|227490|227492|360827|550229|677408|904414|918699", + "text": "Synpolydactyly 1" + }, + { + "baseId": "29908|29909|244065|677408", + "text": "Brachydactyly type E1" + }, + { + "baseId": "29908|29909|677408", + "text": "Brachydactyly type D" + }, + { + "baseId": "29912|29913|677408|818241", + "text": "Syndactyly, type V" + }, + { + "baseId": "29914|360827", + "text": "Brachydactyly-syndactyly syndrome" + }, + { + "baseId": "29916", + "text": "VACTERL association" + }, + { + "baseId": "29917|263231|282990|282991|282999|283000|283005|283006|283014|283836|283839|283840|283841|283843|283845|285472|285473|285477|285499|285504|285506|285507|285866|285875|285876|285877|285881|285883|285884|285885|285886|285887|285895|881651|881652|881653|881654|881655|881656|881657|881658|881659|918700", + "text": "Vertical talus, congenital" + }, + { + "baseId": "29918|29919|29920|29925|29926|132730|227271", + "text": "Selective tooth agenesis 1" + }, + { + "baseId": "29921|227271|453202|453457|453560|453935|453940|453942|453944|520201|559850|563721|632230|691569|698533|781960|781961|790475|829191|829192|918896|923522|970794", + "text": "Hypoplastic enamel-onycholysis-hypohidrosis syndrome" + }, + { + "baseId": "29922|29923|29924|227271", + "text": "Orofacial cleft 5" + }, + { + "baseId": "29928|29929|29930|29931|29933|29934|29935", + "text": "Hand-foot-genital syndrome" + }, + { + "baseId": "29932", + "text": "Guttmacher syndrome" + }, + { + "baseId": "29936", + "text": "Radioulnar synostosis with amegakaryocytic thrombocytopenia 1" + }, + { + "baseId": "29937|29938|29940|302734|302735|302736|302738|302739|302745|302746|302749|302750|302751|302756|302767|306063|306065|306072|306075|306082|306084|306086|306087|306093|310817|310833|310834|310835|310841|310854|310855|310856|311028|311036", + "text": "Bosley-Salih-Alorainy syndrome" + }, + { + "baseId": "29937|29939|302767|306082|306086|306087|310834|579319|897937|897938|897939|897940|897941|897942|897943|897944|897945|897946|897947|897948|897949|897950|897951|897952|897953|897954|897955|897956", + "text": "Human HOXA1 syndromes" + }, + { + "baseId": "29942", + "text": "Low density lipoprotein cholesterol level quantitative trait locus 3" + }, + { + "baseId": "29943", + "text": "Beryllium disease, chronic, susceptibility to" + }, + { + "baseId": "29944", + "text": "Sarcoidosis 1" + }, + { + "baseId": "29945", + "text": "Psoriasis susceptibility 1" + }, + { + "baseId": "29946", + "text": "HIV-1 viremia, susceptibility to" + }, + { + "baseId": "29947", + "text": "Ankylosing spondylitis" + }, + { + "baseId": "29947", + "text": "Synovitis, chronic, susceptibility to" + }, + { + "baseId": "29948|29950|434609", + "text": "Susceptibility to severe cutaneous adverse reaction" + }, + { + "baseId": "29948|29950", + "text": "Erythema multiforme major" + }, + { + "baseId": "29948|29950", + "text": "Toxic epidermal necrolysis" + }, + { + "baseId": "29949", + "text": "Abacavir hypersensitivity" + }, + { + "baseId": "29949", + "text": "Drug-induced liver injury due to flucloxacillin" + }, + { + "baseId": "29950", + "text": "Allopurinol response" + }, + { + "baseId": "29953|361737|434541", + "text": "Thrombophilia, histidine-rich glycoprotein-related" + }, + { + "baseId": "29954|29955|70505|359832", + "text": "Hemolytic anemia due to hexokinase deficiency" + }, + { + "baseId": "29956|29957|29961|29962|29963|29964|29965|190843|191683|191804|192986|193044|193134|194171|194241|194708|194710|195168|195830|195841|196118|196131|196393|204609|205727|237209|237393|260932|267171|267758|268045|268090|268605|268614|268614|268665|268767|269080|269081|269082|269851|269992|271761|271761|272102|273143|273305|273645|274292|274292|275268|275273|275473|278989|278990|278991|278995|278997|278998|278999|279004|279005|279012|279020|279064|279065|279067|279072|279075|279077|279079|279080|279084|279085|279094|279104|279106|279107|279109|279113|279125|279126|279127|279131|279135|279137|279139|279144|279145|279146|279147|279152|279154|279155|279156|279160|279161|279164|279165|279166|279169|279173|279175|279179|279180|279181|279188|279189|279194|279195|279196|279200|279202|279210|279212|279213|279219|279221|279225|279226|279229|279231|279233|279234|279235|279236|279237|279241|279242|279243|279244|279246|279249|279250|279254|279256|279257|279274|279275|279298|279314|279333|279337|279345|279346|279351|279354|279367|279378|279386|279387|279388|279391|279401|279407|279411|279412|279413|279415|279434|279436|279442|279443|279444|279446|279454|279457|279458|279461|279467|279469|280426|280431|280433|280435|280437|280438|280439|280440|280441|280442|280443|280447|280452|280453|280457|280461|280462|280464|280465|280470|280488|280489|280490|280492|280493|280493|280496|280497|280499|280512|280514|280515|280517|280518|280520|280524|280536|280547|280549|280550|280551|280554|280555|280557|280558|280559|280575|280595|280597|280605|280606|280616|280617|280623|280631|280632|280637|280638|280639|280640|280642|280645|280647|280648|280649|280654|280661|280664|280665|280666|280667|280670|280671|280672|280673|280674|280675|280677|280679|280680|280681|280682|280686|280687|280688|280690|280693|280697|280698|280699|280705|280709|280710|280711|280718|280719|280722|280723|280724|280733|280741|280757|280758|280760|280762|280763|280764|280765|280769|280771|280772|280773|280773|280776|280778|280779|280780|280781|280796|280817|280818|280819|363681|433624|433625|439325|440448|440451|440472|440475|440478|440480|440484|489141|490068|490867|491193|513504|538945|553372|553373|576483|576495|576497|576498|576513|578376|584808|585422|587066|609378|609387|609390|612255|696465|696467|696468|696471|707091|707092|707093|707094|707095|707097|732132|732136|732139|732151|743751|746131|746135|746138|746140|746150|746155|746156|761642|774463|787045|789106|789932|789933|792869|794580|799180|823470|863556|863557|863558|863559|863560|863561|863562|863563|863564|863565|863566|863567|863568|863569|863570|863571|863572|863573|863574|863575|863576|863577|863578|863579|863580|863581|863582|863583|863584|863585|863586|863587|863588|863589|863590|863591|863600|863601|863602|863603|863604|863605|863606|863607|863608|863609|863610|863611|863612|863613|863614|863615|863616|863617|863620|863640|863641|863642|863643|863644|863645|863646|863647|863648|863649|863650|863651|863652|863653|863654|863655|863656|863657|863658|863659|863660|863661|863662|863663|863664|863665|863666|863667|863668|863669|863670|863671|863672|863673|863674|863675|863676|863677|863678|863679|863680|863681|863682|863683|863684|863685|863686|863687|863688|863689|863690|863691|863692|863693|863694|863695|863696|863697|863698|863699|863700|863701|865111|865112|865113|865114|865115|865119|865120|865121|865122|865123|865124|865125|865126|903504|903505|961040|970196", + "text": "Schwartz-Jampel syndrome" + }, + { + "baseId": "29958|29959|29960|190843|191683|191804|193044|193134|194171|194241|194708|194710|195168|195830|195841|196118|196131|196393|204609|205727|237209|237393|267171|267758|268045|268090|268605|268614|268614|268665|268767|269080|269081|269082|269851|269992|271761|271761|272102|273143|273305|273645|274292|274292|275268|275273|275473|278989|278990|278991|278995|278997|278998|278999|279004|279005|279012|279020|279064|279065|279067|279072|279075|279077|279079|279080|279084|279085|279094|279104|279106|279107|279109|279113|279125|279126|279127|279131|279135|279137|279139|279144|279145|279146|279147|279152|279154|279155|279156|279160|279161|279164|279165|279166|279169|279173|279175|279179|279180|279181|279188|279189|279194|279195|279196|279200|279202|279210|279212|279213|279219|279221|279225|279226|279229|279231|279233|279234|279235|279236|279237|279241|279242|279243|279244|279246|279249|279250|279254|279256|279257|279274|279275|279298|279314|279333|279337|279345|279346|279351|279354|279367|279378|279386|279387|279388|279391|279401|279407|279411|279412|279413|279415|279434|279436|279442|279443|279444|279446|279454|279457|279458|279461|279467|279469|280426|280431|280433|280435|280437|280438|280439|280440|280441|280442|280443|280447|280452|280453|280457|280461|280462|280464|280465|280470|280488|280489|280490|280492|280493|280493|280496|280497|280499|280512|280514|280515|280517|280518|280520|280524|280536|280547|280549|280550|280551|280554|280555|280557|280558|280559|280575|280595|280597|280605|280606|280616|280617|280623|280631|280632|280637|280638|280639|280640|280642|280645|280647|280648|280649|280654|280661|280664|280665|280666|280667|280670|280671|280672|280673|280674|280675|280677|280679|280680|280681|280682|280686|280687|280688|280690|280693|280697|280698|280699|280705|280709|280710|280711|280718|280719|280722|280723|280724|280733|280741|280757|280758|280760|280762|280763|280764|280765|280769|280771|280772|280773|280773|280776|280778|280779|280780|280781|280796|280817|280818|280819|363681|433624|433625|439325|440448|440451|440472|440475|440478|440480|440484|489141|490068|490867|538945|576495|576497|576498|576513|578376|584808|585422|587066|609378|609387|609390|612254|696465|696467|696468|696471|707091|707092|707093|707094|707095|707097|732132|732136|732139|732151|743751|746131|746135|746138|746140|746150|746155|746156|761642|774463|787045|789360|792869|794580|799180|823470|863556|863557|863558|863559|863560|863561|863562|863563|863564|863565|863566|863567|863568|863569|863570|863571|863572|863573|863574|863575|863576|863577|863578|863579|863580|863581|863582|863583|863584|863585|863586|863587|863588|863589|863590|863591|863600|863601|863602|863603|863604|863605|863606|863607|863608|863609|863610|863611|863612|863613|863614|863615|863616|863617|863620|863640|863641|863642|863643|863644|863645|863646|863647|863648|863649|863650|863651|863652|863653|863654|863655|863656|863657|863658|863659|863660|863661|863662|863663|863664|863665|863666|863667|863668|863669|863670|863671|863672|863673|863674|863675|863676|863677|863678|863679|863680|863681|863682|863683|863684|863685|863686|863687|863688|863689|863690|863691|863692|863693|863694|863695|863696|863697|863698|863699|863700|863701|865111|865112|865113|865114|865115|865119|865120|865121|865122|865123|865124|865125|865126|918610|918611|920135|920136", + "text": "Lethal Kniest-like syndrome" + }, + { + "baseId": "29966|29967|29968|29969|29971|29972|29974|29975|29976|29978|29979|29980|29981|29982|29983|29984|29985|29986|29987|45456|45457|45458|45459|45460|45461|45462|45463|45464|45465|45466|45467|45468|45469|45470|45471|45472|45473|45474|45475|45476|45477|45478|45480|45481|45482|45483|45484|45485|45486|45487|45488|45489|45490|45491|45492|45493|45494|45495|45496|134673|134675|134676|134677|134678|134679|134680|134682|138249|138250|138251|139383|254435|316185|316196|316197|323468|323469|323471|323495|323496|323500|323503|323505|323513|323516|329688|329692|329693|329694|330911|330919|330926|330935|330940|360075|424382|425956|429373|429376|429377|429378|429379|429380|429381|429384|432308|441509|441528|513098|553557|553650|576265|577242|577251|577254|589203|609053|609054|684306|791199|791200|869395|869396|869397|869398|869399|869400|869401|869402|869403|869404|869405|869406|869407|869408|869409|869410|869411|869412|869413|920313|961079|961080|961081|961082|961083|961084|961085|961086|961087|961088|961089|961090|961091|961092|961093|961094|961095|961096|961097|961098|961099|961100|961101|961102|961103|964379|967194|967195", + "text": "Maturity-onset diabetes of the young, type 3" + }, + { + "baseId": "29966", + "text": "Hepatic adenomas, familial" + }, + { + "baseId": "29966|134681|263530|980491", + "text": "Diabetes mellitus type 1" + }, + { + "baseId": "29966|29970|29971|29977|970953", + "text": "Diabetes mellitus, insulin-dependent, 20" + }, + { + "baseId": "29976", + "text": "SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF" + }, + { + "baseId": "29988|29989|29990|52775|52776|174255|174256", + "text": "Deafness, autosomal recessive 39" + }, + { + "baseId": "29991|29992|29993|29994|919943", + "text": "Heparin cofactor II deficiency" + }, + { + "baseId": "29996", + "text": "HEMOGLOBIN F (ALBAICIN)" + }, + { + "baseId": "29997", + "text": "HEMOGLOBIN F (AUCKLAND)" + }, + { + "baseId": "29998", + "text": "HEMOGLOBIN F (CALTECH)" + }, + { + "baseId": "29999", + "text": "HEMOGLOBIN F (CARLTON)" + }, + { + "baseId": "30000", + "text": "HEMOGLOBIN F (CLARKE)" + }, + { + "baseId": "30001", + "text": "HEMOGLOBIN F (COLUMBUS-GA)" + }, + { + "baseId": "30002", + "text": "HEMOGLOBIN F (FUCHU)" + }, + { + "baseId": "30003", + "text": "HEMOGLOBIN F (HEATHER)" + }, + { + "baseId": "30004", + "text": "HEMOGLOBIN F (KENNESTONE)" + }, + { + "baseId": "30005", + "text": "HEMOGLOBIN F (KINGSTON)" + }, + { + "baseId": "30006", + "text": "HEMOGLOBIN F (LA GRANGE)" + }, + { + "baseId": "30007", + "text": "HEMOGLOBIN F (LODZ)" + }, + { + "baseId": "30008", + "text": "HEMOGLOBIN F (MALAYSIA)" + }, + { + "baseId": "30009", + "text": "HEMOGLOBIN F (MALTA)" + }, + { + "baseId": "30010", + "text": "HEMOGLOBIN F (MARIETTA)" + }, + { + "baseId": "30011", + "text": "HEMOGLOBIN F (MEINOHAMA)" + }, + { + "baseId": "30012", + "text": "HEMOGLOBIN F (MELBOURNE)" + }, + { + "baseId": "30013", + "text": "HEMOGLOBIN F (MINOO)" + }, + { + "baseId": "30014", + "text": "HEMOGLOBIN F (OAKLAND)" + }, + { + "baseId": "30015", + "text": "HEMOGLOBIN F (POOLE)" + }, + { + "baseId": "30016", + "text": "HEMOGLOBIN F (PORT ROYAL)" + }, + { + "baseId": "30017", + "text": "HEMOGLOBIN F (SHANGHAI)" + }, + { + "baseId": "30018", + "text": "HEMOGLOBIN F (TOKYO)" + }, + { + "baseId": "30019", + "text": "HEMOGLOBIN F (URUMQI)" + }, + { + "baseId": "30020|30028|30035|38707|38708|789092", + "text": "Cyanosis, transient neonatal" + }, + { + "baseId": "30021|30022|30023|30029|30040|30069|30070|30072|30073|30074|30079|30109|30177|30177|30191|30228|30372|30456|30489|30493|38706|38709|44955|44986|44991|190271|314320|314322|320911|320913|320919|326999|328030|328037|328057|432683|433086|433087|868119|868120|868121|868123|868124|868125|868126|868127|868128", + "text": "Fetal hemoglobin quantitative trait locus 1" + }, + { + "baseId": "30024", + "text": "HEMOGLOBIN F (GRANADA)" + }, + { + "baseId": "30025", + "text": "HEMOGLOBIN F (AUSTELL)" + }, + { + "baseId": "30026", + "text": "HEMOGLOBIN F (BROOKLYN)" + }, + { + "baseId": "30027", + "text": "HEMOGLOBIN F (ONODA)" + }, + { + "baseId": "30030", + "text": "HEMOGLOBIN F (CATALONIA)" + }, + { + "baseId": "30031", + "text": "HEMOGLOBIN F (COSENZA)" + }, + { + "baseId": "30032", + "text": "HEMOGLOBIN F (SACROMONTE)" + }, + { + "baseId": "30033", + "text": "HEMOGLOBIN F (WAYNESBORO)" + }, + { + "baseId": "30033", + "text": "HEMOGLOBIN F (LESVOS)" + }, + { + "baseId": "30034", + "text": "HEMOGLOBIN F (MACEDONIA II)" + }, + { + "baseId": "30036", + "text": "HEMOGLOBIN F (EMIRATES)" + }, + { + "baseId": "30038", + "text": "HEMOGLOBIN F (VELETA)" + }, + { + "baseId": "30041", + "text": "HEMOGLOBIN F (CALABRIA)" + }, + { + "baseId": "30042", + "text": "HEMOGLOBIN F (CLAMART)" + }, + { + "baseId": "30043", + "text": "HEMOGLOBIN F (OULED RABAH)" + }, + { + "baseId": "30044", + "text": "HBG1 POLYMORPHISM" + }, + { + "baseId": "30044", + "text": "HEMOGLOBIN F (SARDINIA)" + }, + { + "baseId": "30045", + "text": "HEMOGLOBIN F (BASKENT)" + }, + { + "baseId": "30046", + "text": "HEMOGLOBIN F (BEECH ISLAND)" + }, + { + "baseId": "30047", + "text": "HEMOGLOBIN F (BONAIRE)" + }, + { + "baseId": "30048", + "text": "HEMOGLOBIN F (CALLUNA)" + }, + { + "baseId": "30049", + "text": "HEMOGLOBIN F (COBB)" + }, + { + "baseId": "30050", + "text": "HEMOGLOBIN F (DAMMAM)" + }, + { + "baseId": "30051", + "text": "HEMOGLOBIN F (DICKINSON)" + }, + { + "baseId": "30052", + "text": "HEMOGLOBIN F (FOREST PARK)" + }, + { + "baseId": "30053", + "text": "HEMOGLOBIN F (FUKUYAMA)" + }, + { + "baseId": "30054", + "text": "HEMOGLOBIN F (IWATA)" + }, + { + "baseId": "30055", + "text": "HEMOGLOBIN F (IZUMI)" + }, + { + "baseId": "30055", + "text": "HEMOGLOBIN F (KOTOBUKI)" + }, + { + "baseId": "30056", + "text": "HEMOGLOBIN F (JAMAICA)" + }, + { + "baseId": "30058", + "text": "HEMOGLOBIN F (KUALA LUMPUR)" + }, + { + "baseId": "30059", + "text": "HEMOGLOBIN F (PENDERGRASS)" + }, + { + "baseId": "30060", + "text": "HEMOGLOBIN F (PORDENONE)" + }, + { + "baseId": "30062", + "text": "HEMOGLOBIN F (SIENA)" + }, + { + "baseId": "30062", + "text": "HEMOGLOBIN F (HULL)" + }, + { + "baseId": "30063", + "text": "HEMOGLOBIN F (TEXAS I)" + }, + { + "baseId": "30064", + "text": "HEMOGLOBIN F (VICTORIA JUBILEE)" + }, + { + "baseId": "30065", + "text": "HEMOGLOBIN F (XINJIANG)" + }, + { + "baseId": "30066", + "text": "HEMOGLOBIN F (XIN-SU)" + }, + { + "baseId": "30067", + "text": "HEMOGLOBIN F (YAMAGUCHI)" + }, + { + "baseId": "30068", + "text": "HEMOGLOBIN KENYA" + }, + { + "baseId": "30069", + "text": "Sardinian HPFH" + }, + { + "baseId": "30069", + "text": "Greek HPFH" + }, + { + "baseId": "30070", + "text": "British HPFH" + }, + { + "baseId": "30071", + "text": "HEMOGLOBIN F (JIANGSU)" + }, + { + "baseId": "30076", + "text": "HEMOGLOBIN F (WOODSTOCK)" + }, + { + "baseId": "30077", + "text": "Fetal hemoglobin, a-gamma type, reduction in" + }, + { + "baseId": "30078", + "text": "HEMOGLOBIN F (MACEDONIA-I)" + }, + { + "baseId": "30081", + "text": "HEMOGLOBIN A(2)-PRIME" + }, + { + "baseId": "30081", + "text": "HEMOGLOBIN B(2)" + }, + { + "baseId": "30082", + "text": "HEMOGLOBIN A(2) ADRIA" + }, + { + "baseId": "30083", + "text": "HEMOGLOBIN A(2) BABINGA" + }, + { + "baseId": "30084", + "text": "HEMOGLOBIN A(2) CANADA" + }, + { + "baseId": "30085", + "text": "HEMOGLOBIN A(2) COBURG" + }, + { + "baseId": "30086", + "text": "HEMOGLOBIN A(2) FITZROY" + }, + { + "baseId": "30087", + "text": "HEMOGLOBIN A(2) FLATBUSH" + }, + { + "baseId": "30087", + "text": "HEMOGLOBIN FLATBUSH (GEORGIA)" + }, + { + "baseId": "30088", + "text": "HEMOGLOBIN A(2) HONAI" + }, + { + "baseId": "30089", + "text": "HEMOGLOBIN A(2) INDONESIA" + }, + { + "baseId": "30090", + "text": "HEMOGLOBIN A(2) MANZANARES" + }, + { + "baseId": "30091", + "text": "HEMOGLOBIN A(2) MELBOURNE" + }, + { + "baseId": "30092", + "text": "HEMOGLOBIN A(2) NYU" + }, + { + "baseId": "30092", + "text": "HEMOGLOBIN NYU" + }, + { + "baseId": "30093", + "text": "HEMOGLOBIN A(2) ROOSEVELT" + }, + { + "baseId": "30094", + "text": "HEMOGLOBIN A(2) SPHAKIA" + }, + { + "baseId": "30095", + "text": "HEMOGLOBIN A(2) VICTORIA" + }, + { + "baseId": "30096", + "text": "HEMOGLOBIN A(2) WRENS" + }, + { + "baseId": "30097", + "text": "HEMOGLOBIN A(2) YOKOSHIMA" + }, + { + "baseId": "30098", + "text": "HEMOGLOBIN A(2) ZAGREB" + }, + { + "baseId": "30099|30100|30102", + "text": "Hemoglobin Lepore trait" + }, + { + "baseId": "30100|30717", + "text": "Abnormal hemoglobin" + }, + { + "baseId": "30100", + "text": "Reduced beta/alpha synthesis ratio" + }, + { + "baseId": "30100", + "text": "Persistence of hemoglobin F" + }, + { + "baseId": "30100|30441|30663|30669|30671|30675|30682|30683|30684|30692|30707|30725|30726|30763|30772|30832|30837|30842|30904|30914|30931|47238|47240|47241|264908|362628|362629|362630|362633|362634|362638|362639|390135|427127|432842|432844|432860|432863|432864|432865|432866|432873|433150|433152|433154|480507|480508|609943|614132|614133|623322|739999|789593|792575|799847|799853|799854|816416|857543|857544|857545|857546|857547|857548|857549|857550|857551|857573|857574|857575|857576|857577|903608|979760|979761|979762|983498|983499|983500", + "text": "alpha Thalassemia" + }, + { + "baseId": "30101", + "text": "HEMOGLOBIN A(2) PELENDRI" + }, + { + "baseId": "30103", + "text": "HEMOGLOBIN PARCHMAN" + }, + { + "baseId": "30104", + "text": "Delta-zero-thalassemia, knossos type" + }, + { + "baseId": "30105", + "text": "HEMOGLOBIN A(2) CORFU" + }, + { + "baseId": "30105", + "text": "HEMOGLOBIN A(2) TROODOS" + }, + { + "baseId": "30106", + "text": "HEMOGLOBIN A(2) PARKVILLE" + }, + { + "baseId": "30107|30109|30110|30111|30112|30113|30123|30124|620405", + "text": "delta Thalassemia" + }, + { + "baseId": "30108", + "text": "HEMOGLOBIN A(2) NIIGATA" + }, + { + "baseId": "30109", + "text": "HEMOGLOBIN A(2) YIALOUSA" + }, + { + "baseId": "30113", + "text": "HEMOGLOBIN A(2) GROVETOWN" + }, + { + "baseId": "30114", + "text": "HEMOGLOBIN A(2) PUGLIA" + }, + { + "baseId": "30115", + "text": "Delta-0-thalassemia" + }, + { + "baseId": "30116", + "text": "HEMOGLOBIN A(2) SANT' ANTIOCO" + }, + { + "baseId": "30117", + "text": "HEMOGLOBIN A(2) AGRINIO" + }, + { + "baseId": "30118", + "text": "HEMOGLOBIN A(2) MONREALE" + }, + { + "baseId": "30119", + "text": "HEMOGLOBIN A(2) METAPONTO" + }, + { + "baseId": "30120", + "text": "HEMOGLOBIN A(2) CAMPANIA" + }, + { + "baseId": "30121", + "text": "HEMOGLOBIN A(2) LUCANIA" + }, + { + "baseId": "30122", + "text": "HEMOGLOBIN A(2) CAPRI" + }, + { + "baseId": "30125", + "text": "HEMOGLOBIN A(2) NINIVE" + }, + { + "baseId": "30126", + "text": "Delta-plus-thalassemia" + }, + { + "baseId": "30128", + "text": "HEMOGLOBIN AALBORG" + }, + { + "baseId": "30129", + "text": "HEMOGLOBIN ABRUZZO" + }, + { + "baseId": "30130", + "text": "HEMOGLOBIN AGENOGI" + }, + { + "baseId": "30131", + "text": "HEMOGLOBIN ALABAMA" + }, + { + "baseId": "30132", + "text": "HEMOGLOBIN ALAMO" + }, + { + "baseId": "30133", + "text": "HEMOGLOBIN ALBERTA" + }, + { + "baseId": "30133|30135|30143|30151|30155|30156|30157|30173|30183|30186|30231|30232|30239|30243|30275|30289|30298|30304|30333|30339|30340|30345|30351|30354|30356|30358|30360|30361|30378|30381|30404|30419|30422|30429|30430|30434|30436|30617|906174", + "text": "Erythrocytosis 6, familial" + }, + { + "baseId": "30134", + "text": "HEMOGLOBIN ALTDORF" + }, + { + "baseId": "30135", + "text": "HEMOGLOBIN ANDREW-MINNEAPOLIS" + }, + { + "baseId": "30136", + "text": "HEMOGLOBIN ANKARA" + }, + { + "baseId": "30138", + "text": "HEMOGLOBIN ATHENS-GEORGIA" + }, + { + "baseId": "30139", + "text": "HEMOGLOBIN ATLANTA" + }, + { + "baseId": "30139", + "text": "HEMOGLOBIN ATLANTA-COVENTRY" + }, + { + "baseId": "30141", + "text": "HEMOGLOBIN AUSTIN" + }, + { + "baseId": "30142", + "text": "HEMOGLOBIN AVICENNA" + }, + { + "baseId": "30143", + "text": "HEMOGLOBIN BARCELONA" + }, + { + "baseId": "30144", + "text": "HEMOGLOBIN BAYLOR" + }, + { + "baseId": "30145", + "text": "HEMOGLOBIN BEIRUT" + }, + { + "baseId": "30146", + "text": "HEMOGLOBIN BELFAST" + }, + { + "baseId": "30147", + "text": "HEMOGLOBIN BORAS" + }, + { + "baseId": "30148", + "text": "HEMOGLOBIN BOUGARDIREY-MALI" + }, + { + "baseId": "30149", + "text": "HEMOGLOBIN BEOGRAD" + }, + { + "baseId": "30149", + "text": "HEMOGLOBIN D (CAMPERDOWN)" + }, + { + "baseId": "30150", + "text": "HEMOGLOBIN BETH ISRAEL" + }, + { + "baseId": "30151", + "text": "HEMOGLOBIN BETHESDA" + }, + { + "baseId": "30152", + "text": "HEMOGLOBIN BICETRE" + }, + { + "baseId": "30153", + "text": "HEMOGLOBIN BOLOGNA" + }, + { + "baseId": "30154", + "text": "HEMOGLOBIN BREST" + }, + { + "baseId": "30155", + "text": "HEMOGLOBIN BRIGHAM" + }, + { + "baseId": "30156", + "text": "HEMOGLOBIN BRISBANE" + }, + { + "baseId": "30156", + "text": "HEMOGLOBIN GREAT LAKES" + }, + { + "baseId": "30157", + "text": "HEMOGLOBIN BRITISH COLUMBIA" + }, + { + "baseId": "30158", + "text": "HEMOGLOBIN BROCKTON" + }, + { + "baseId": "30160|30161|30205|30245|30277|30278|30280|30325|30329|30437|30444|30445|30453|30462|30465|30470|30471|30499|30512|30522|30527|30533|30565|38470|44949|44951|47255|47264|380592|380595|380597|432695|432704|546034|546666|590730|611095|621358|621360|621361|917086|983932", + "text": "Hemoglobinopathy" + }, + { + "baseId": "30160|30229|30246|30280|30400|30407|30694|30867", + "text": "Heinz body anemia" + }, + { + "baseId": "30162", + "text": "HEMOGLOBIN BUNBURY" + }, + { + "baseId": "30163", + "text": "HEMOGLOBIN BURKE" + }, + { + "baseId": "30164", + "text": "HEMOGLOBIN BUSHWICK" + }, + { + "baseId": "30165", + "text": "HEMOGLOBIN C" + }, + { + "baseId": "30165|30177|30177|30191|30200|30228|30241|30273|30278|30284|30331|30372|30391|30440|30441|30442|30443|30445|30452|30456|30457|30461|30470|30471|30473|30475|30476|30477|30486|30489|30493|30496|30497|30498|30509|30510|34043|44945|44951|44955|44972|44986|44991|44996|190271|320911|328030|432683|433086|433087|546448|868119|868120|868121", + "text": "Hb SS disease" + }, + { + "baseId": "30165|30177|30177|30191|30200|30210|30228|30236|30241|30263|30273|30278|30295|30297|30331|30341|30372|30381|30391|30394|30424|30440|30441|30442|30443|30444|30445|30446|30447|30452|30453|30454|30456|30457|30458|30459|30461|30462|30463|30465|30466|30468|30470|30471|30472|30473|30475|30476|30477|30480|30481|30484|30485|30486|30487|30488|30489|30490|30492|30493|30496|30497|30498|30499|30500|30501|30503|30504|30505|30506|30508|30509|30510|30512|30522|30524|30527|30528|30531|30543|30545|30547|30551|30553|30554|30558|30576|30590|30599|30601|30602|34042|34043|44945|44946|44948|44949|44951|44954|44955|44956|44958|44962|44965|44966|44967|44969|44970|44972|44973|44974|44975|44976|44977|44978|44979|44980|44984|44986|44991|44993|44995|44996|44998|45001|45004|45005|47251|47252|47255|47264|47272|47276|47287|47306|47307|75268|186822|190271|254202|254205|254206|260797|320911|328030|380592|380593|380594|380595|380596|380597|380598|380599|432675|432677|432681|432683|432687|432690|432692|432694|432695|432704|432705|433082|433083|433084|433086|433087|433088|487421|487444|487446|487504|487518|487527|487534|487561|487562|546034|546035|546317|546448|546662|546666|581709|581827|581920|611303|611304|611306|621353|621362|621817|621818|685287|690005|787983|789684|789685|818290|838557|857427|857428|857429|857430|857431|857432|857433|857435|857436|857437|857438|857439|857440|857441|857442|857443|857444|857445|857446|857447|857448|857449|857450|857451|857452|857453|857454|857455|857456|857457|857458|857459|857460|857461|857462|857463|857464|857465|857466|857467|857468|857469|857470|857471|857472|857473|857474|857475|857476|857477|857478|857479|857480|857481|857482|857483|857484|857485|857486|857487|857488|857489|857490|857491|857492|857493|857494|857495|857496|857497|857498|857499|857500|857501|857502|857503|857504|857505|857506|857507|857508|857509|857510|857511|857512|857513|857514|857515|857516|857517|857518|857519|857520|857521|857522|857523|857525|857526|857527|857528|857529|857530|857531|857532|857533|857534|857535|857536|857537|857538|857539|857540|857541|857542|857552|857553|857555|857557|857558|857559|857560|857561|857563|857564|857565|857566|857567|857568|857569|857570|857571|857572|868119|868120|868121|970074|972531|979011|979012|983496|983497", + "text": "beta Thalassemia" + }, + { + "baseId": "30168", + "text": "HEMOGLOBIN CAMDEN" + }, + { + "baseId": "30168", + "text": "HEMOGLOBIN MOTOWN" + }, + { + "baseId": "30168", + "text": "HEMOGLOBIN TOKUCHI" + }, + { + "baseId": "30169", + "text": "HEMOGLOBIN CAMPERDOWN" + }, + { + "baseId": "30170", + "text": "HEMOGLOBIN CARIBBEAN" + }, + { + "baseId": "30171", + "text": "HEMOGLOBIN CASTILLA" + }, + { + "baseId": "30172", + "text": "HEMOGLOBIN CHANDIGARH" + }, + { + "baseId": "30173", + "text": "HEMOGLOBIN CHEMILLY" + }, + { + "baseId": "30174", + "text": "HEMOGLOBIN CHEVERLY" + }, + { + "baseId": "30175", + "text": "HEMOGLOBIN CHICO" + }, + { + "baseId": "30176", + "text": "HEMOGLOBIN CHRISTCHURCH" + }, + { + "baseId": "30177", + "text": "HEMOGLOBIN CITY OF HOPE" + }, + { + "baseId": "30177|30443|30648|44966", + "text": "Beta-thalassemia, dominant inclusion body type" + }, + { + "baseId": "30177|30191|30200|30228|30372|30489|44955|44986|44991|190271|320911|328030|432683|433086|433087|868119|868120|868121", + "text": "Hemoglobin E" + }, + { + "baseId": "30178", + "text": "HEMOGLOBIN COCHIN-PORT ROYAL" + }, + { + "baseId": "30179", + "text": "HEMOGLOBIN COCODY" + }, + { + "baseId": "30180", + "text": "HEMOGLOBIN COLLINGWOOD" + }, + { + "baseId": "30181", + "text": "HEMOGLOBIN CONNECTICUT" + }, + { + "baseId": "30182", + "text": "HEMOGLOBIN COVENTRY" + }, + { + "baseId": "30183", + "text": "HEMOGLOBIN COWTOWN" + }, + { + "baseId": "30184", + "text": "HEMOGLOBIN CRANSTON" + }, + { + "baseId": "30185", + "text": "HEMOGLOBIN CRETE" + }, + { + "baseId": "30186", + "text": "HEMOGLOBIN CRETEIL" + }, + { + "baseId": "30187", + "text": "HEMOGLOBIN D (BUSHMAN)" + }, + { + "baseId": "30188", + "text": "HEMOGLOBIN D (GRANADA)" + }, + { + "baseId": "30189", + "text": "HEMOGLOBIN D (IBADAN)" + }, + { + "baseId": "30190", + "text": "HEMOGLOBIN D (IRAN)" + }, + { + "baseId": "30191", + "text": "Hb D-Los Angeles" + }, + { + "baseId": "30191|44972", + "text": "HBB-Related Disorders" + }, + { + "baseId": "30191", + "text": "Hemoglobin D disease" + }, + { + "baseId": "30192", + "text": "HEMOGLOBIN D (OULED RABAH)" + }, + { + "baseId": "30193|30194|30200|30278|30297|30391|30449|30450|30486|30487|30488|30489|30490|30492|30493|30496|30498|30499|30500|30501|30503|30504|30505|30506|30508|30509|30510|30512|30513|30514|30515|30516|30526|30527|30531|30545|30553|30625|30655|44976|44996|45005|380597|857535", + "text": "Beta-plus-thalassemia" + }, + { + "baseId": "30195", + "text": "HEMOGLOBIN DEER LODGE" + }, + { + "baseId": "30196", + "text": "HEMOGLOBIN DETROIT" + }, + { + "baseId": "30197", + "text": "HEMOGLOBIN DJELFA" + }, + { + "baseId": "30198", + "text": "HEMOGLOBIN DOHA" + }, + { + "baseId": "30199", + "text": "HEMOGLOBIN DUARTE" + }, + { + "baseId": "30200", + "text": "Hemoglobin E/beta thalassemia disease" + }, + { + "baseId": "30200", + "text": "Hemoglobin E disease" + }, + { + "baseId": "30201", + "text": "HEMOGLOBIN E (SASKATOON)" + }, + { + "baseId": "30202", + "text": "HEMOGLOBIN EDMONTON" + }, + { + "baseId": "30203", + "text": "HEMOGLOBIN EXTREMADURA" + }, + { + "baseId": "30206", + "text": "HEMOGLOBIN FUKUOKA" + }, + { + "baseId": "30207", + "text": "HEMOGLOBIN FUKUYAMA" + }, + { + "baseId": "30208", + "text": "HEMOGLOBIN G (ACCRA)" + }, + { + "baseId": "30208", + "text": "HEMOGLOBIN YAIZU" + }, + { + "baseId": "30209", + "text": "HEMOGLOBIN G (COPENHAGEN)" + }, + { + "baseId": "30210", + "text": "HEMOGLOBIN G (COUSHATTA)" + }, + { + "baseId": "30210", + "text": "HEMOGLOBIN G (SASKATOON)" + }, + { + "baseId": "30210", + "text": "HEMOGLOBIN G (HSIN-CHU)" + }, + { + "baseId": "30210", + "text": "HEMOGLOBIN G (TAEGU)" + }, + { + "baseId": "30211", + "text": "HEMOGLOBIN G (FERRARA)" + }, + { + "baseId": "30212", + "text": "HEMOGLOBIN G (GALVESTON)" + }, + { + "baseId": "30212", + "text": "HEMOGLOBIN G (PORT ARTHUR)" + }, + { + "baseId": "30212", + "text": "HEMOGLOBIN G (TEXAS)" + }, + { + "baseId": "30213", + "text": "HEMOGLOBIN G (HSI-TSOU)" + }, + { + "baseId": "30214", + "text": "HEMOGLOBIN G (MAKASSAR)" + }, + { + "baseId": "30215", + "text": "HEMOGLOBIN G (SAN JOSE)" + }, + { + "baseId": "30216", + "text": "HEMOGLOBIN G (SZUHU)" + }, + { + "baseId": "30216", + "text": "HEMOGLOBIN GIFU" + }, + { + "baseId": "30217", + "text": "HEMOGLOBIN G (TAIPEI)" + }, + { + "baseId": "30218", + "text": "HEMOGLOBIN G (TAIWAN-AMI)" + }, + { + "baseId": "30219", + "text": "HEMOGLOBIN GAINESVILLE-GA" + }, + { + "baseId": "30220", + "text": "HEMOGLOBIN GAVELLO" + }, + { + "baseId": "30221", + "text": "HEMOGLOBIN GEELONG" + }, + { + "baseId": "30221", + "text": "HEMOGLOBIN JINAN" + }, + { + "baseId": "30222", + "text": "HEMOGLOBIN GENOVA" + }, + { + "baseId": "30222", + "text": "HEMOGLOBIN HYOGO" + }, + { + "baseId": "30223", + "text": "HEMOGLOBIN GRANGE-BLANCHE" + }, + { + "baseId": "30224", + "text": "HEMOGLOBIN GUN HILL" + }, + { + "baseId": "30225", + "text": "HEMOGLOBIN HACETTEPE" + }, + { + "baseId": "30225", + "text": "HEMOGLOBIN COMPLUTENSE" + }, + { + "baseId": "30226", + "text": "HEMOGLOBIN HAFNIA" + }, + { + "baseId": "30227", + "text": "HEMOGLOBIN HAMADAN" + }, + { + "baseId": "30228", + "text": "HEMOGLOBIN HAMILTON" + }, + { + "baseId": "30229", + "text": "HEMOGLOBIN HAMMERSMITH" + }, + { + "baseId": "30229", + "text": "HEMOGLOBIN CHIBA" + }, + { + "baseId": "30230", + "text": "HEMOGLOBIN HAZEBROUCK" + }, + { + "baseId": "30231", + "text": "HEMOGLOBIN HEATHROW" + }, + { + "baseId": "30232", + "text": "HEMOGLOBIN HELSINKI" + }, + { + "baseId": "30233", + "text": "HEMOGLOBIN HENRI MONDOR" + }, + { + "baseId": "30234", + "text": "HEMOGLOBIN HIJIYAMA" + }, + { + "baseId": "30235", + "text": "HEMOGLOBIN HIKARI" + }, + { + "baseId": "30236", + "text": "HEMOGLOBIN HIMEJI" + }, + { + "baseId": "30237", + "text": "HEMOGLOBIN HINSDALE" + }, + { + "baseId": "30238", + "text": "HEMOGLOBIN HIROSE" + }, + { + "baseId": "30239", + "text": "HEMOGLOBIN HIROSHIMA" + }, + { + "baseId": "30240", + "text": "HEMOGLOBIN HOFU" + }, + { + "baseId": "30243", + "text": "HEMOGLOBIN HOTEL-DIEU" + }, + { + "baseId": "30244", + "text": "HEMOGLOBIN I (HIGH WYCOMBE)" + }, + { + "baseId": "30246", + "text": "HEMOGLOBIN INDIANAPOLIS" + }, + { + "baseId": "30247", + "text": "HEMOGLOBIN SAINT ETIENNE" + }, + { + "baseId": "30248", + "text": "HEMOGLOBIN J (ALTGELD GARDENS)" + }, + { + "baseId": "30249", + "text": "HEMOGLOBIN J (AMIENS)" + }, + { + "baseId": "30250", + "text": "HEMOGLOBIN J (ANTAKYA)" + }, + { + "baseId": "30251", + "text": "HEMOGLOBIN J (AUCKLAND)" + }, + { + "baseId": "30252", + "text": "HEMOGLOBIN J (BALTIMORE)" + }, + { + "baseId": "30254", + "text": "HEMOGLOBIN J (CAIRO)" + }, + { + "baseId": "30255", + "text": "HEMOGLOBIN J (CALABRIA)" + }, + { + "baseId": "30255", + "text": "HEMOGLOBIN J (COSENZA)" + }, + { + "baseId": "30255", + "text": "HEMOGLOBIN J (BARI)" + }, + { + "baseId": "30256", + "text": "HEMOGLOBIN J (CHICAGO)" + }, + { + "baseId": "30257", + "text": "HEMOGLOBIN J (CORDOBA)" + }, + { + "baseId": "30258", + "text": "HEMOGLOBIN J (DALOA)" + }, + { + "baseId": "30259", + "text": "HEMOGLOBIN J (GUANTANAMO)" + }, + { + "baseId": "30260", + "text": "HEMOGLOBIN J (IRAN)" + }, + { + "baseId": "30262", + "text": "HEMOGLOBIN J (LENS)" + }, + { + "baseId": "30263", + "text": "HEMOGLOBIN J (LOME)" + }, + { + "baseId": "30264", + "text": "HEMOGLOBIN J (LUHE)" + }, + { + "baseId": "30266", + "text": "HEMOGLOBIN J (SICILIA)" + }, + { + "baseId": "30267", + "text": "HEMOGLOBIN J (TAICHUNG)" + }, + { + "baseId": "30267", + "text": "HEMOGLOBIN K (CAMEROON)" + }, + { + "baseId": "30268", + "text": "HEMOGLOBIN JIANGHUA" + }, + { + "baseId": "30269", + "text": "HEMOGLOBIN JOHNSTOWN" + }, + { + "baseId": "30271", + "text": "HEMOGLOBIN K (IBADAN)" + }, + { + "baseId": "30272", + "text": "HEMOGLOBIN K (WOOLWICH)" + }, + { + "baseId": "30275", + "text": "HEMOGLOBIN KEMPSEY" + }, + { + "baseId": "30276", + "text": "HEMOGLOBIN KENITRA" + }, + { + "baseId": "30277", + "text": "HEMOGLOBIN KHARTOUM" + }, + { + "baseId": "30278", + "text": "HEMOGLOBIN KNOSSOS" + }, + { + "baseId": "30278", + "text": "Beta-knossos-thalassemia" + }, + { + "baseId": "30279", + "text": "HEMOGLOBIN KOFU" + }, + { + "baseId": "30281", + "text": "HEMOGLOBIN KORIYAMA" + }, + { + "baseId": "30282", + "text": "HEMOGLOBIN MACHIDA" + }, + { + "baseId": "30283", + "text": "HEMOGLOBIN KORLE-BU" + }, + { + "baseId": "30284", + "text": "HEMOGLOBIN LA DESIRADE" + }, + { + "baseId": "30285", + "text": "HEMOGLOBIN LAS PALMAS" + }, + { + "baseId": "30286", + "text": "HEMOGLOBIN LEIDEN" + }, + { + "baseId": "30287", + "text": "HEMOGLOBIN LINCOLN PARK" + }, + { + "baseId": "30287|30308|30343|30344", + "text": "HBB/HBD anti-Lepore" + }, + { + "baseId": "30288", + "text": "HEMOGLOBIN LINKOPING" + }, + { + "baseId": "30288", + "text": "HEMOGLOBIN MEILAHTI" + }, + { + "baseId": "30290|30386|32791|32793|32795|32798|32807|32821|32822|75388|249427|249428|249434|256186|256187|256188|256190|256192|256193|256194|256195|256196|256197|256198|328654|328655|328658|328660|328662|328667|328670|328672|328673|328681|328682|328683|338624|338630|338631|338644|338649|338650|338651|338653|338655|338656|338661|338663|338665|344704|344706|344708|344710|344712|344719|344720|344722|344723|344724|344726|344727|344730|344734|346097|346103|346104|346106|346108|346110|346111|346117|346121|346122|346126|346127|346132|361085|514047|727205|727207|740809|740810|755890|800132|800977|800978|800979|845491|877685|877686|877687|877688|877689|877690|877691|877692|877693|877694|877695|877696|877697|877698|877699|877700|877701|877702|877703|877704|877705|877706|877707|877708|877709|877710|877711|877712|877713|877714|877715|877716|877717|877718|877719|877720|877721|877722|877723|877724|877725|877726|877727|877728|877729|877730|877731|877732|877733|877734|880529|880530|880531", + "text": "Hemolytic anemia" + }, + { + "baseId": "30291", + "text": "HEMOGLOBIN LUFKIN" + }, + { + "baseId": "30292", + "text": "HEMOGLOBIN LYON" + }, + { + "baseId": "30293", + "text": "HEMOGLOBIN M (MILWAUKEE 1)" + }, + { + "baseId": "30293|30294|30417", + "text": "Methemoglobinemia, beta-globin type" + }, + { + "baseId": "30294", + "text": "HEMOGLOBIN M (MILWAUKEE 2)" + }, + { + "baseId": "30294", + "text": "HEMOGLOBIN M (HYDE PARK)" + }, + { + "baseId": "30294", + "text": "HEMOGLOBIN M (AKITA)" + }, + { + "baseId": "30295", + "text": "HEMOGLOBIN M (SASKATOON)" + }, + { + "baseId": "30295", + "text": "HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE" + }, + { + "baseId": "30296", + "text": "HEMOGLOBIN MADRID" + }, + { + "baseId": "30297", + "text": "HEMOGLOBIN MALAY" + }, + { + "baseId": "30297", + "text": "Beta-malay-thalassemia" + }, + { + "baseId": "30298", + "text": "HEMOGLOBIN MALMO" + }, + { + "baseId": "30299", + "text": "HEMOGLOBIN MAPUTO" + }, + { + "baseId": "30302", + "text": "HEMOGLOBIN MATERA" + }, + { + "baseId": "30303", + "text": "HEMOGLOBIN MEQUON" + }, + { + "baseId": "30304", + "text": "HEMOGLOBIN MCKEES ROCKS" + }, + { + "baseId": "30305", + "text": "HEMOGLOBIN MINNEAPOLIS-LAOS" + }, + { + "baseId": "30307", + "text": "HEMOGLOBIN MITO" + }, + { + "baseId": "30308", + "text": "HEMOGLOBIN MIYADA" + }, + { + "baseId": "30309", + "text": "HEMOGLOBIN MIYASHIRO" + }, + { + "baseId": "30310", + "text": "HEMOGLOBIN MIZUHO" + }, + { + "baseId": "30311", + "text": "HEMOGLOBIN MIZUNAMI" + }, + { + "baseId": "30312", + "text": "HEMOGLOBIN MOBILE" + }, + { + "baseId": "30313", + "text": "HEMOGLOBIN MORIGUCHI" + }, + { + "baseId": "30314", + "text": "HEMOGLOBIN MOSCVA" + }, + { + "baseId": "30315", + "text": "HEMOGLOBIN MOZHAISK" + }, + { + "baseId": "30316", + "text": "HEMOGLOBIN N, BETA TYPE" + }, + { + "baseId": "30317", + "text": "HEMOGLOBIN N (BALTIMORE)" + }, + { + "baseId": "30317", + "text": "HEMOGLOBIN N (JENKINS)" + }, + { + "baseId": "30317", + "text": "HEMOGLOBIN JENKINS" + }, + { + "baseId": "30317", + "text": "HEMOGLOBIN HOPKINS 1" + }, + { + "baseId": "30317", + "text": "HEMOGLOBIN KENWOOD" + }, + { + "baseId": "30318", + "text": "HEMOGLOBIN N (MEMPHIS)" + }, + { + "baseId": "30319", + "text": "HEMOGLOBIN N (SEATTLE)" + }, + { + "baseId": "30320", + "text": "HEMOGLOBIN N (TIMONE)" + }, + { + "baseId": "30321", + "text": "HEMOGLOBIN NAGASAKI" + }, + { + "baseId": "30322", + "text": "HEMOGLOBIN NAGOYA" + }, + { + "baseId": "30323", + "text": "HEMOGLOBIN NEVERS" + }, + { + "baseId": "30324", + "text": "HEMOGLOBIN NEW MEXICO" + }, + { + "baseId": "30326", + "text": "HEMOGLOBIN NEWCASTLE" + }, + { + "baseId": "30327", + "text": "HEMOGLOBIN NITEROI" + }, + { + "baseId": "30328", + "text": "HEMOGLOBIN NORTH CHICAGO" + }, + { + "baseId": "30330", + "text": "HEMOGLOBIN NOTTINGHAM" + }, + { + "baseId": "30331", + "text": "HEMOGLOBIN O (ARAB)" + }, + { + "baseId": "30331", + "text": "HEMOGLOBIN EGYPT" + }, + { + "baseId": "30331", + "text": "Sickle cell-Hemoglobin O Arab disease" + }, + { + "baseId": "30332", + "text": "HEMOGLOBIN OCHO RIOS" + }, + { + "baseId": "30333", + "text": "HEMOGLOBIN OHIO" + }, + { + "baseId": "30334", + "text": "HEMOGLOBIN OKALOOSA" + }, + { + "baseId": "30335", + "text": "HEMOGLOBIN OKAYAMA" + }, + { + "baseId": "30336", + "text": "HEMOGLOBIN OKAZAKI" + }, + { + "baseId": "30337", + "text": "HEMOGLOBIN OLMSTED" + }, + { + "baseId": "30338", + "text": "HEMOGLOBIN OLOMOUC" + }, + { + "baseId": "30339", + "text": "HEMOGLOBIN OLYMPIA" + }, + { + "baseId": "30340", + "text": "HEMOGLOBIN OSLER" + }, + { + "baseId": "30340", + "text": "HEMOGLOBIN NANCY" + }, + { + "baseId": "30340", + "text": "HEMOGLOBIN FORT GORDON" + }, + { + "baseId": "30342", + "text": "HEMOGLOBIN P" + }, + { + "baseId": "30342", + "text": "HEMOGLOBIN P (GALVESTON)" + }, + { + "baseId": "30343", + "text": "HEMOGLOBIN P (CONGO)" + }, + { + "baseId": "30344", + "text": "HEMOGLOBIN P (NILOTIC)" + }, + { + "baseId": "30345", + "text": "HEMOGLOBIN PALMERSTON NORTH" + }, + { + "baseId": "30346", + "text": "HEMOGLOBIN PASADENA" + }, + { + "baseId": "30347", + "text": "HEMOGLOBIN PERTH" + }, + { + "baseId": "30347", + "text": "HEMOGLOBIN ABRAHAM LINCOLN" + }, + { + "baseId": "30347", + "text": "HEMOGLOBIN KOBE" + }, + { + "baseId": "30348", + "text": "HEMOGLOBIN PETERBOROUGH" + }, + { + "baseId": "30349", + "text": "HEMOGLOBIN PHILLY" + }, + { + "baseId": "30350", + "text": "HEMOGLOBIN PIERRE-BENITE" + }, + { + "baseId": "30351", + "text": "Erythrocytosis" + }, + { + "baseId": "30353", + "text": "HEMOGLOBIN QUIN-HAI" + }, + { + "baseId": "30354", + "text": "HEMOGLOBIN RADCLIFFE" + }, + { + "baseId": "30355", + "text": "HEMOGLOBIN PORTO ALEGRE" + }, + { + "baseId": "30356", + "text": "HEMOGLOBIN POTOMAC" + }, + { + "baseId": "30357", + "text": "HEMOGLOBIN PRESBYTERIAN" + }, + { + "baseId": "30358", + "text": "HEMOGLOBIN PROVIDENCE" + }, + { + "baseId": "30359", + "text": "HEMOGLOBIN PYRGOS" + }, + { + "baseId": "30360", + "text": "HEMOGLOBIN RAHERE" + }, + { + "baseId": "30361", + "text": "HEMOGLOBIN RAINIER" + }, + { + "baseId": "30362", + "text": "HEMOGLOBIN RALEIGH" + }, + { + "baseId": "30363", + "text": "HEMOGLOBIN RANDWICK" + }, + { + "baseId": "30364", + "text": "HEMOGLOBIN REGINA" + }, + { + "baseId": "30365", + "text": "HEMOGLOBIN RICHMOND" + }, + { + "baseId": "30366", + "text": "HEMOGLOBIN RIO GRANDE" + }, + { + "baseId": "30367", + "text": "HEMOGLOBIN RIVERDALE-BRONX" + }, + { + "baseId": "30369", + "text": "HEMOGLOBIN ROSEAU-POINTE A PITRE" + }, + { + "baseId": "30370", + "text": "HEMOGLOBIN ROTHSCHILD" + }, + { + "baseId": "30371", + "text": "HEMOGLOBIN RUSH" + }, + { + "baseId": "30372", + "text": "HEMOGLOBIN S" + }, + { + "baseId": "30372", + "text": "Sickle cell disease and related diseases" + }, + { + "baseId": "30377", + "text": "HEMOGLOBIN SABINE" + }, + { + "baseId": "30378", + "text": "HEMOGLOBIN SAINT JACQUES" + }, + { + "baseId": "30379", + "text": "HEMOGLOBIN SAITAMA" + }, + { + "baseId": "30380", + "text": "HEMOGLOBIN SAKI" + }, + { + "baseId": "30381", + "text": "HEMOGLOBIN SAN DIEGO" + }, + { + "baseId": "30382", + "text": "HEMOGLOBIN SANTA ANA" + }, + { + "baseId": "30383", + "text": "HEMOGLOBIN SAVANNAH" + }, + { + "baseId": "30384", + "text": "HEMOGLOBIN SAVERNE" + }, + { + "baseId": "30385", + "text": "HEMOGLOBIN SEATTLE" + }, + { + "baseId": "30387", + "text": "HEMOGLOBIN SHANGHAI" + }, + { + "baseId": "30388", + "text": "HEMOGLOBIN SHELBY" + }, + { + "baseId": "30388", + "text": "HEMOGLOBIN LESLIE" + }, + { + "baseId": "30388", + "text": "HEMOGLOBIN DEACONESS" + }, + { + "baseId": "30389", + "text": "HEMOGLOBIN SHEPHERDS BUSH" + }, + { + "baseId": "30390", + "text": "HEMOGLOBIN SHERWOOD FOREST" + }, + { + "baseId": "30391", + "text": "HEMOGLOBIN SHOWA-YAKUSHIJI" + }, + { + "baseId": "30391", + "text": "Beta-showa-yakushiji thalassemia" + }, + { + "baseId": "30393", + "text": "HEMOGLOBIN ST. MANDE" + }, + { + "baseId": "30394", + "text": "HEMOGLOBIN SOGN" + }, + { + "baseId": "30395", + "text": "HEMOGLOBIN SOUTHAMPTON" + }, + { + "baseId": "30395", + "text": "HEMOGLOBIN CASPER" + }, + { + "baseId": "30396", + "text": "HEMOGLOBIN STANMORE" + }, + { + "baseId": "30397", + "text": "HEMOGLOBIN STRASBOURG" + }, + { + "baseId": "30398", + "text": "HEMOGLOBIN SOUTH FLORIDA" + }, + { + "baseId": "30399", + "text": "HEMOGLOBIN ST. ANTOINE" + }, + { + "baseId": "30400", + "text": "HEMOGLOBIN ST. LOUIS" + }, + { + "baseId": "30401", + "text": "HEMOGLOBIN SUMMER HILL" + }, + { + "baseId": "30402", + "text": "HEMOGLOBIN SUNNYBROOK" + }, + { + "baseId": "30403", + "text": "HEMOGLOBIN SYDNEY" + }, + { + "baseId": "30404", + "text": "HEMOGLOBIN SYRACUSE" + }, + { + "baseId": "30406", + "text": "HEMOGLOBIN TA-LI" + }, + { + "baseId": "30409", + "text": "HEMOGLOBIN TAKAMATSU" + }, + { + "baseId": "30410", + "text": "HEMOGLOBIN TAMPA" + }, + { + "baseId": "30411", + "text": "HEMOGLOBIN TIANSHUI" + }, + { + "baseId": "30412", + "text": "HEMOGLOBIN TILBURG" + }, + { + "baseId": "30413", + "text": "HEMOGLOBIN TOCHIGI" + }, + { + "baseId": "30414", + "text": "HEMOGLOBIN TOURS" + }, + { + "baseId": "30415", + "text": "HEMOGLOBIN TOYOAKE" + }, + { + "baseId": "30416", + "text": "HEMOGLOBIN WILLAMETTE" + }, + { + "baseId": "30418", + "text": "HEMOGLOBIN TUNIS" + }, + { + "baseId": "30419", + "text": "HEMOGLOBIN TY GARD" + }, + { + "baseId": "30420", + "text": "HEMOGLOBIN VAASA" + }, + { + "baseId": "30421", + "text": "HEMOGLOBIN VANCOUVER" + }, + { + "baseId": "30422", + "text": "HEMOGLOBIN VANDERBILT" + }, + { + "baseId": "30423", + "text": "HEMOGLOBIN VICKSBURG" + }, + { + "baseId": "30424", + "text": "HEMOGLOBIN VILLEJUIF" + }, + { + "baseId": "30425", + "text": "HEMOGLOBIN VOLGA" + }, + { + "baseId": "30425", + "text": "HEMOGLOBIN DRENTHE" + }, + { + "baseId": "30426", + "text": "HEMOGLOBIN WARWICKSHIRE" + }, + { + "baseId": "30427", + "text": "HEMOGLOBIN WIEN" + }, + { + "baseId": "30428", + "text": "HEMOGLOBIN WINDSOR" + }, + { + "baseId": "30429", + "text": "HEMOGLOBIN WOOD" + }, + { + "baseId": "30430", + "text": "HEMOGLOBIN YAKIMA" + }, + { + "baseId": "30431", + "text": "HEMOGLOBIN YAMAGATA" + }, + { + "baseId": "30432", + "text": "HEMOGLOBIN YATSUSHIRO" + }, + { + "baseId": "30433", + "text": "HEMOGLOBIN YOKOHAMA" + }, + { + "baseId": "30434", + "text": "HEMOGLOBIN YORK" + }, + { + "baseId": "30435", + "text": "HEMOGLOBIN YOSHIZUKA" + }, + { + "baseId": "30436", + "text": "HEMOGLOBIN YPSILANTI" + }, + { + "baseId": "30438", + "text": "HEMOGLOBIN YUSA" + }, + { + "baseId": "30439", + "text": "Hemoglobin Zurich" + }, + { + "baseId": "30440|30441|30442|30444|30445|30446|30447|30452|30453|30454|30456|30457|30458|30459|30461|30462|30463|30464|30465|30466|30467|30468|30469|30470|30471|30472|30473|30475|30476|30477|30480|30481|30484|30485|30497|30543|30547|30551|30558|30599|30601|30602|34042|34043|44972|44974|47272|432675|432694|546034|546666|611303|611306|857566", + "text": "beta^0^ Thalassemia" + }, + { + "baseId": "30448", + "text": "Beta-Houston-thalassemia" + }, + { + "baseId": "30448", + "text": "Beta-plus-thalassemia, dominant" + }, + { + "baseId": "30450", + "text": "HEMOGLOBIN CAGLIARI" + }, + { + "baseId": "30487|30493|30497|34042|970126", + "text": "Beta thalassemia major" + }, + { + "baseId": "30490|30501|30503|30505|30522|30552|30553", + "text": "Beta thalassemia intermedia" + }, + { + "baseId": "30517", + "text": "HEMOGLOBIN BIRMINGHAM" + }, + { + "baseId": "30518", + "text": "HEMOGLOBIN GALICIA" + }, + { + "baseId": "30519", + "text": "HEMOGLOBIN SOUTH MILWAUKEE" + }, + { + "baseId": "30521", + "text": "HEMOGLOBIN CALAIS" + }, + { + "baseId": "30523", + "text": "HEMOGLOBIN IOWA" + }, + { + "baseId": "30525", + "text": "HEMOGLOBIN ZENGCHENG" + }, + { + "baseId": "30526", + "text": "HEMOGLOBIN TERRE HAUTE" + }, + { + "baseId": "30528", + "text": "HEMOGLOBIN VALLETTA" + }, + { + "baseId": "30529", + "text": "HEMOGLOBIN JACKSONVILLE" + }, + { + "baseId": "30530", + "text": "HEMOGLOBIN CHESTERFIELD" + }, + { + "baseId": "30534", + "text": "HEMOGLOBIN COIMBRA" + }, + { + "baseId": "30537", + "text": "HEMOGLOBIN KODAIRA" + }, + { + "baseId": "30538", + "text": "HEMOGLOBIN MONTREAL" + }, + { + "baseId": "30539", + "text": "HEMOGLOBIN NIKOSIA" + }, + { + "baseId": "30540", + "text": "HEMOGLOBIN ST. FRANCIS" + }, + { + "baseId": "30541", + "text": "HEMOGLOBIN YAHATA" + }, + { + "baseId": "30542", + "text": "HEMOGLOBIN RANCHO MIRAGE" + }, + { + "baseId": "30548", + "text": "HEMOGLOBIN MUSCAT" + }, + { + "baseId": "30549", + "text": "HEMOGLOBIN BAB-SAADOUN" + }, + { + "baseId": "30550", + "text": "HEMOGLOBIN MANHATTAN" + }, + { + "baseId": "30552", + "text": "HEMOGLOBIN BRESCIA" + }, + { + "baseId": "30552", + "text": "HEMOGLOBIN DURHAM-N.C." + }, + { + "baseId": "30552|30639|857570", + "text": "Beta-thalassemia dominant" + }, + { + "baseId": "30554", + "text": "Beta-thalassemia intermedia, dominant" + }, + { + "baseId": "30556", + "text": "HEMOGLOBIN BADEN" + }, + { + "baseId": "30557", + "text": "HEMOGLOBIN GRAZ" + }, + { + "baseId": "30559", + "text": "HEMOGLOBIN KARLSKOGA" + }, + { + "baseId": "30560", + "text": "HEMOGLOBIN MUSKEGON" + }, + { + "baseId": "30561", + "text": "HEMOGLOBIN TIGRAYE" + }, + { + "baseId": "30562", + "text": "HEMOGLOBIN SARREBOURG" + }, + { + "baseId": "30563", + "text": "HEMOGLOBIN SAINT NAZAIRE" + }, + { + "baseId": "30564", + "text": "Hb camperdown" + }, + { + "baseId": "30566", + "text": "HEMOGLOBIN MANUKAU" + }, + { + "baseId": "30567", + "text": "HEMOGLOBIN VILLAVERDE" + }, + { + "baseId": "30568", + "text": "HEMOGLOBIN HOWICK" + }, + { + "baseId": "30569", + "text": "HEMOGLOBIN DENVER" + }, + { + "baseId": "30570", + "text": "HEMOGLOBIN BECKMAN" + }, + { + "baseId": "30571", + "text": "HEMOGLOBIN KOREA" + }, + { + "baseId": "30573", + "text": "HEMOGLOBIN D (NEATH)" + }, + { + "baseId": "30574", + "text": "HEMOGLOBIN WASHTENAW" + }, + { + "baseId": "30575", + "text": "HEMOGLOBIN BRISTOL" + }, + { + "baseId": "30575", + "text": "HEMOGLOBIN ALESHA" + }, + { + "baseId": "30576", + "text": "HEMOGLOBIN DIEPPE" + }, + { + "baseId": "30577", + "text": "HEMOGLOBIN HIGASHITOCHIGI" + }, + { + "baseId": "30577", + "text": "HEMOGLOBIN HT" + }, + { + "baseId": "30578", + "text": "HEMOGLOBIN TROLLHAETTAN" + }, + { + "baseId": "30579", + "text": "HEMOGLOBIN TYNE" + }, + { + "baseId": "30583", + "text": "HEMOGLOBIN HAKKARI" + }, + { + "baseId": "30584", + "text": "HEMOGLOBIN PUTTELANGE" + }, + { + "baseId": "30585", + "text": "HEMOGLOBIN ARTA" + }, + { + "baseId": "30586", + "text": "HEMOGLOBIN AURORA" + }, + { + "baseId": "30587", + "text": "HEMOGLOBIN NAKANO" + }, + { + "baseId": "30588", + "text": "HEMOGLOBIN HINWIL" + }, + { + "baseId": "30589", + "text": "HEMOGLOBIN DEBROUSSE" + }, + { + "baseId": "30591", + "text": "HEMOGLOBIN TSURUMAI" + }, + { + "baseId": "30592", + "text": "HEMOGLOBIN J (EUROPA)" + }, + { + "baseId": "30593", + "text": "Hb aubenas" + }, + { + "baseId": "30595", + "text": "HEMOGLOBIN COSTA RICA" + }, + { + "baseId": "30596", + "text": "Beta-thalassemia, Ashkenazi Jewish type" + }, + { + "baseId": "30597", + "text": "Hb niigata" + }, + { + "baseId": "30598", + "text": "HEMOGLOBIN HOKUSETSU" + }, + { + "baseId": "30600", + "text": "Hb gambara" + }, + { + "baseId": "30603", + "text": "HEMOGLOBIN SILVER SPRINGS" + }, + { + "baseId": "30605", + "text": "HEMOGLOBIN RIO CLARO" + }, + { + "baseId": "30606", + "text": "HEMOGLOBIN NIJKERK" + }, + { + "baseId": "30607", + "text": "HEMOGLOBIN CHILE" + }, + { + "baseId": "30608", + "text": "HEMOGLOBIN TENDE" + }, + { + "baseId": "30609", + "text": "HEMOGLOBIN LA ROCHE-SUR-YON" + }, + { + "baseId": "30610", + "text": "HEMOGLOBIN IRAQ-HALABJA" + }, + { + "baseId": "30611", + "text": "HEMOGLOBIN LUCKNOW" + }, + { + "baseId": "30612", + "text": "HEMOGLOBIN SAGAMI" + }, + { + "baseId": "30613", + "text": "HEMOGLOBIN HARROW" + }, + { + "baseId": "30614", + "text": "HEMOGLOBIN BRIE COMTE ROBERT" + }, + { + "baseId": "30615", + "text": "HEMOGLOBIN BARBIZON" + }, + { + "baseId": "30616", + "text": "HEMOGLOBIN BOLOGNA-ST. ORSOLA" + }, + { + "baseId": "30617", + "text": "HEMOGLOBIN VILA REAL" + }, + { + "baseId": "30618", + "text": "HEMOGLOBIN SAALE" + }, + { + "baseId": "30619", + "text": "HEMOGLOBIN BUSHEY" + }, + { + "baseId": "30621", + "text": "HEMOGLOBIN TSUKUMI" + }, + { + "baseId": "30622", + "text": "HEMOGLOBIN SITIA" + }, + { + "baseId": "30623", + "text": "HEMOGLOBIN ERNZ" + }, + { + "baseId": "30624", + "text": "HEMOGLOBIN RENERT" + }, + { + "baseId": "30626", + "text": "HEMOGLOBIN WATFORD" + }, + { + "baseId": "30627", + "text": "HEMOGLOBIN YAOUNDE" + }, + { + "baseId": "30628", + "text": "HEMOGLOBIN MONT SAINT-AIGNAN" + }, + { + "baseId": "30629", + "text": "HEMOGLOBIN 'T LANGE LAND" + }, + { + "baseId": "30631", + "text": "HEMOGLOBIN ANTALYA" + }, + { + "baseId": "30632", + "text": "HEMOGLOBIN LIMASSOL" + }, + { + "baseId": "30633", + "text": "Thalassemia intermedia" + }, + { + "baseId": "30634", + "text": "HEMOGLOBIN CANTERBURY" + }, + { + "baseId": "30636", + "text": "HEMOGLOBIN MOLFETTA" + }, + { + "baseId": "30637", + "text": "HEMOGLOBIN ILMENAU" + }, + { + "baseId": "30638", + "text": "HEMOGLOBIN AUBAGNE" + }, + { + "baseId": "30640", + "text": "HEMOGLOBIN KODAIRA II" + }, + { + "baseId": "30641", + "text": "HEMOGLOBIN COLIMA" + }, + { + "baseId": "30642", + "text": "HEMOGLOBIN POCOS DE CALDAS" + }, + { + "baseId": "30643", + "text": "HEMOGLOBIN TRENTO" + }, + { + "baseId": "30644", + "text": "HEMOGLOBIN SANTANDER" + }, + { + "baseId": "30645", + "text": "HEMOGLOBIN BUZEN" + }, + { + "baseId": "30646", + "text": "HEMOGLOBIN SANTA CLARA" + }, + { + "baseId": "30647", + "text": "HEMOGLOBIN SPARTA" + }, + { + "baseId": "30650", + "text": "HEMOGLOBIN CARDARELLI" + }, + { + "baseId": "30652", + "text": "HEMOGLOBIN ROCKFORD" + }, + { + "baseId": "30653", + "text": "HEMOGLOBIN TRIPOLI" + }, + { + "baseId": "30654", + "text": "HEMOGLOBIN TIZI-OUZOU" + }, + { + "baseId": "30657", + "text": "HEMOGLOBIN ZOETERWOUDE" + }, + { + "baseId": "30658", + "text": "HEMOGLOBIN BREM-SUR-MER" + }, + { + "baseId": "30659", + "text": "HEMOGLOBIN GELDROP ST. ANNA" + }, + { + "baseId": "30660", + "text": "HEMOGLOBIN MARINEO" + }, + { + "baseId": "30661", + "text": "HEMOGLOBIN LA CORUNA" + }, + { + "baseId": "30663", + "text": "Hemoglobin constant spring" + }, + { + "baseId": "30663|30665|30684|30686|30690|30691|30695|30707|30731|30888|30914", + "text": "Hemoglobin H disease, nondeletional" + }, + { + "baseId": "30664", + "text": "HEMOGLOBIN SPANISH TOWN" + }, + { + "baseId": "30665", + "text": "HEMOGLOBIN ICARIA" + }, + { + "baseId": "30666", + "text": "HEMOGLOBIN KOYA DORA" + }, + { + "baseId": "30667", + "text": "HEMOGLOBIN COLUMBIA MISSOURI" + }, + { + "baseId": "30667|30672|30678|30685|30750|30791|30812|30815|30822|30831|30846|30860|30861|30883|30895", + "text": "Erythrocytosis, familial, 7" + }, + { + "baseId": "30668", + "text": "HEMOGLOBIN WAYNE" + }, + { + "baseId": "30669", + "text": "Hemoglobin Quong Sze" + }, + { + "baseId": "30670", + "text": "HEMOGLOBIN EVANS" + }, + { + "baseId": "30671", + "text": "HEMOGLOBIN SUAN-DOK" + }, + { + "baseId": "30672", + "text": "HEMOGLOBIN J (BUDA)" + }, + { + "baseId": "30673", + "text": "HEMOGLOBIN J (OXFORD)" + }, + { + "baseId": "30673", + "text": "HEMOGLOBIN I (INTERLAKEN)" + }, + { + "baseId": "30673", + "text": "HEMOGLOBIN N (COSENZA)" + }, + { + "baseId": "30674|30785", + "text": "HEMOGLOBIN I" + }, + { + "baseId": "30674|30785", + "text": "HEMOGLOBIN I (BURLINGTON)" + }, + { + "baseId": "30674|30785", + "text": "HEMOGLOBIN I (PHILADELPHIA)" + }, + { + "baseId": "30674|30785", + "text": "HEMOGLOBIN I (SKAMANIA)" + }, + { + "baseId": "30674|30785", + "text": "HEMOGLOBIN I (TEXAS)" + }, + { + "baseId": "30675", + "text": "HEMOGLOBIN L (FERRARA)" + }, + { + "baseId": "30675", + "text": "HEMOGLOBIN HASHARON" + }, + { + "baseId": "30675", + "text": "HEMOGLOBIN SINAI" + }, + { + "baseId": "30675", + "text": "HEMOGLOBIN SEALY" + }, + { + "baseId": "30676", + "text": "HEMOGLOBIN MONTGOMERY" + }, + { + "baseId": "30676", + "text": "HEMOGLOBIN BIRMINGHAM (USA)" + }, + { + "baseId": "30677", + "text": "HEMOGLOBIN G (BRISTOL)" + }, + { + "baseId": "30677", + "text": "HEMOGLOBIN D (BALTIMORE)" + }, + { + "baseId": "30677", + "text": "HEMOGLOBIN D (ST. LOUIS)" + }, + { + "baseId": "30677", + "text": "HEMOGLOBIN D (WASHINGTON)" + }, + { + "baseId": "30677", + "text": "HEMOGLOBIN G (AZAKUOLI)" + }, + { + "baseId": "30677", + "text": "HEMOGLOBIN G (KNOXVILLE)" + }, + { + "baseId": "30677", + "text": "HEMOGLOBIN G (PHILADELPHIA)" + }, + { + "baseId": "30677", + "text": "HEMOGLOBIN KNOXVILLE-1" + }, + { + "baseId": "30677", + "text": "HEMOGLOBIN STANLEYVILLE-I" + }, + { + "baseId": "30678", + "text": "HEMOGLOBIN INKSTER" + }, + { + "baseId": "30679", + "text": "HEMOGLOBIN SUN PRAIRIE" + }, + { + "baseId": "30680", + "text": "HEMOGLOBIN BOYLE HEIGHTS" + }, + { + "baseId": "30681", + "text": "HEMOGLOBIN DAVENPORT" + }, + { + "baseId": "30685", + "text": "HEMOGLOBIN HANAMAKI" + }, + { + "baseId": "30686", + "text": "Alpha-thalassemia-2, nondeletional" + }, + { + "baseId": "30687", + "text": "HEMOGLOBIN KURDISTAN" + }, + { + "baseId": "30688|30707", + "text": "HEMOGLOBIN CLINICO-MADRID" + }, + { + "baseId": "30689", + "text": "HEMOGLOBIN PARK RIDGE" + }, + { + "baseId": "30690", + "text": "HEMOGLOBIN AGRINIO" + }, + { + "baseId": "30692", + "text": "HEMOGLOBIN SEAL ROCK" + }, + { + "baseId": "30693", + "text": "HEMOGLOBIN ANAMOSA" + }, + { + "baseId": "30695", + "text": "HEMOGLOBIN SALLANCHES" + }, + { + "baseId": "30696", + "text": "Alpha trait thalassemia" + }, + { + "baseId": "30697", + "text": "HEMOGLOBIN NATAL" + }, + { + "baseId": "30698", + "text": "HEMOGLOBIN WATTS" + }, + { + "baseId": "30699", + "text": "HEMOGLOBIN CONAKRY" + }, + { + "baseId": "30700", + "text": "HEMOGLOBIN J (SARDEGNA)" + }, + { + "baseId": "30701", + "text": "HEMOGLOBIN TARRANT" + }, + { + "baseId": "30702", + "text": "HEMOGLOBIN ANTANANARIVO" + }, + { + "baseId": "30703", + "text": "HEMOGLOBIN BOGHE" + }, + { + "baseId": "30704", + "text": "HEMOGLOBIN TOULON" + }, + { + "baseId": "30705", + "text": "HEMOGLOBIN CAMPINAS" + }, + { + "baseId": "30706", + "text": "HEMOGLOBIN NIKAIA" + }, + { + "baseId": "30708", + "text": "HEMOGLOBIN DARTMOUTH" + }, + { + "baseId": "30709", + "text": "HEMOGLOBIN GERLAND" + }, + { + "baseId": "30710", + "text": "HEMOGLOBIN MANITOBA" + }, + { + "baseId": "30711", + "text": "HEMOGLOBIN NORTON" + }, + { + "baseId": "30712", + "text": "HEMOGLOBIN LOMBARD" + }, + { + "baseId": "30713", + "text": "HEMOGLOBIN SAN ANTONIO" + }, + { + "baseId": "30714", + "text": "HEMOGLOBIN RAMPA" + }, + { + "baseId": "30715", + "text": "HEMOGLOBIN MANAWATU" + }, + { + "baseId": "30716", + "text": "HEMOGLOBIN G (HONOLULU)" + }, + { + "baseId": "30716", + "text": "HEMOGLOBIN G (HONG KONG)" + }, + { + "baseId": "30716", + "text": "HEMOGLOBIN G (SINGAPORE)" + }, + { + "baseId": "30716", + "text": "HEMOGLOBIN G (CHINESE)" + }, + { + "baseId": "30718|30726|30727|30918|30919", + "text": "Alpha plus thalassemia" + }, + { + "baseId": "30719", + "text": "Alpha-thalassemia, zf type" + }, + { + "baseId": "30720", + "text": "HEMOGLOBIN CHARTRES" + }, + { + "baseId": "30721", + "text": "HEMOGLOBIN FUKUI" + }, + { + "baseId": "30722", + "text": "HEMOGLOBIN PART-DIEU" + }, + { + "baseId": "30723", + "text": "HEMOGLOBIN DECINES-CHARPIEU" + }, + { + "baseId": "30724", + "text": "Hemoglobin Val de Marne" + }, + { + "baseId": "30727", + "text": "HEMOGLOBIN ZURICH ALBISRIEDEN" + }, + { + "baseId": "30728", + "text": "HEMOGLOBIN PASSY" + }, + { + "baseId": "30729", + "text": "HEMOGLOBIN PLASENCIA" + }, + { + "baseId": "30730", + "text": "HEMOGLOBIN KUROSAKI" + }, + { + "baseId": "30732", + "text": "HEMOGLOBIN AL-HAMMADI RIYADH" + }, + { + "baseId": "30733", + "text": "Alpha-thalassemia, Hmong type" + }, + { + "baseId": "30734", + "text": "HEMOGLOBIN AICHI" + }, + { + "baseId": "30735", + "text": "HEMOGLOBIN ALBANY-GEORGIA" + }, + { + "baseId": "30735", + "text": "HEMOGLOBIN ALBANY-SUMA" + }, + { + "baseId": "30736", + "text": "HEMOGLOBIN ANANTHARAJ" + }, + { + "baseId": "30737", + "text": "HEMOGLOBIN ANN ARBOR" + }, + { + "baseId": "30738", + "text": "HEMOGLOBIN ARYA" + }, + { + "baseId": "30739", + "text": "HEMOGLOBIN ATAGO" + }, + { + "baseId": "30740", + "text": "HEMOGLOBIN ATTLEBORO" + }, + { + "baseId": "30741", + "text": "HEMOGLOBIN AZTEC" + }, + { + "baseId": "30742", + "text": "HEMOGLOBIN BARI" + }, + { + "baseId": "30743", + "text": "HEMOGLOBIN BEIJING" + }, + { + "baseId": "30745", + "text": "HEMOGLOBIN BOURMEDES" + }, + { + "baseId": "30746", + "text": "HEMOGLOBIN BROUSSAIS" + }, + { + "baseId": "30746", + "text": "HEMOGLOBIN J (BROUSSAIS)" + }, + { + "baseId": "30746", + "text": "HEMOGLOBIN TAGAWA I" + }, + { + "baseId": "30747", + "text": "HEMOGLOBIN CATONSVILLE" + }, + { + "baseId": "30748", + "text": "HEMOGLOBIN CHAD" + }, + { + "baseId": "30749", + "text": "HEMOGLOBIN CHAPEL HILL" + }, + { + "baseId": "30750", + "text": "HEMOGLOBIN CHESAPEAKE" + }, + { + "baseId": "30751", + "text": "HEMOGLOBIN CHIAPAS" + }, + { + "baseId": "30752", + "text": "HEMOGLOBIN CHICAGO" + }, + { + "baseId": "30753", + "text": "HEMOGLOBIN CHONGQING" + }, + { + "baseId": "30754", + "text": "HEMOGLOBIN CONTALDO" + }, + { + "baseId": "30755", + "text": "HEMOGLOBIN CORDELE" + }, + { + "baseId": "30756", + "text": "HEMOGLOBIN DAGESTAN" + }, + { + "baseId": "30757", + "text": "HEMOGLOBIN DALLAS" + }, + { + "baseId": "30758", + "text": "HEMOGLOBIN DANESHGAH-TEHRAN" + }, + { + "baseId": "30759", + "text": "HEMOGLOBIN DENMARK HILL" + }, + { + "baseId": "30760", + "text": "HEMOGLOBIN DUAN" + }, + { + "baseId": "30761", + "text": "HEMOGLOBIN DUNN" + }, + { + "baseId": "30762", + "text": "HEMOGLOBIN ETOBICOKE" + }, + { + "baseId": "30764", + "text": "HEMOGLOBIN FERNDOWN" + }, + { + "baseId": "30765", + "text": "HEMOGLOBIN FONTAINEBLEAU" + }, + { + "baseId": "30766", + "text": "HEMOGLOBIN FORT DE FRANCE" + }, + { + "baseId": "30767", + "text": "HEMOGLOBIN G (AUDHALI)" + }, + { + "baseId": "30768", + "text": "HEMOGLOBIN G (FORT WORTH)" + }, + { + "baseId": "30768", + "text": "HEMOGLOBIN FORT WORTH" + }, + { + "baseId": "30769", + "text": "HEMOGLOBIN G (GEORGIA)" + }, + { + "baseId": "30770", + "text": "HEMOGLOBIN G (NORFOLK)" + }, + { + "baseId": "30771", + "text": "HEMOGLOBIN G (PEST)" + }, + { + "baseId": "30772", + "text": "HEMOGLOBIN G (TAICHUNG)" + }, + { + "baseId": "30772", + "text": "HEMOGLOBIN Q" + }, + { + "baseId": "30772", + "text": "HEMOGLOBIN Q (THAILAND)" + }, + { + "baseId": "30772", + "text": "HEMOGLOBIN MAHIDOL" + }, + { + "baseId": "30772", + "text": "HEMOGLOBIN ASABARA" + }, + { + "baseId": "30772", + "text": "HEMOGLOBIN KURASHIKI" + }, + { + "baseId": "30773", + "text": "HEMOGLOBIN G (WAIMANALO)" + }, + { + "baseId": "30773", + "text": "HEMOGLOBIN AIDA" + }, + { + "baseId": "30774", + "text": "HEMOGLOBIN GARDEN STATE" + }, + { + "baseId": "30775", + "text": "HEMOGLOBIN HANDSWORTH" + }, + { + "baseId": "30776", + "text": "HEMOGLOBIN GRADY" + }, + { + "baseId": "30776", + "text": "HEMOGLOBIN DAKAR" + }, + { + "baseId": "30777", + "text": "HEMOGLOBIN GUANGZHOU" + }, + { + "baseId": "30777", + "text": "HEMOGLOBIN HANGZHOU" + }, + { + "baseId": "30778", + "text": "HEMOGLOBIN GUIZHOU" + }, + { + "baseId": "30778", + "text": "HEMOGLOBIN UTSUNOMIYA" + }, + { + "baseId": "30779", + "text": "HEMOGLOBIN HANDA" + }, + { + "baseId": "30779", + "text": "HEMOGLOBIN MUNAKATA" + }, + { + "baseId": "30780", + "text": "HEMOGLOBIN HARBIN" + }, + { + "baseId": "30781", + "text": "HEMOGLOBIN HEKINAN" + }, + { + "baseId": "30782", + "text": "HEMOGLOBIN HIROSAKI" + }, + { + "baseId": "30783", + "text": "HEMOGLOBIN HOBART" + }, + { + "baseId": "30784", + "text": "HEMOGLOBIN HOPKINS 2" + }, + { + "baseId": "30786", + "text": "HEMOGLOBIN IWATA" + }, + { + "baseId": "30787", + "text": "HEMOGLOBIN J (ABIDJAN)" + }, + { + "baseId": "30788", + "text": "HEMOGLOBIN J (ANATOLIA)" + }, + { + "baseId": "30789", + "text": "HEMOGLOBIN J (BIRMINGHAM)" + }, + { + "baseId": "30789", + "text": "HEMOGLOBIN J (MEERUT)" + }, + { + "baseId": "30790", + "text": "HEMOGLOBIN J (CAMAGUEY)" + }, + { + "baseId": "30791", + "text": "HEMOGLOBIN J (CAPE TOWN)" + }, + { + "baseId": "30792", + "text": "HEMOGLOBIN J (CUBUJUQUI)" + }, + { + "baseId": "30793", + "text": "HEMOGLOBIN J (HABANA)" + }, + { + "baseId": "30794", + "text": "HEMOGLOBIN J (KUROSH)" + }, + { + "baseId": "30795", + "text": "HEMOGLOBIN J (MEDELLIN)" + }, + { + "baseId": "30796", + "text": "HEMOGLOBIN J (NYANZA)" + }, + { + "baseId": "30797", + "text": "HEMOGLOBIN J (PARIS 1)" + }, + { + "baseId": "30797", + "text": "HEMOGLOBIN J (ALJEZUR)" + }, + { + "baseId": "30798", + "text": "HEMOGLOBIN J (RAJAPPEN)" + }, + { + "baseId": "30799", + "text": "HEMOGLOBIN J (ROVIGO)" + }, + { + "baseId": "30800", + "text": "HEMOGLOBIN J (SINGA)" + }, + { + "baseId": "30802", + "text": "HEMOGLOBIN J (TASHIKUERGAN)" + }, + { + "baseId": "30803", + "text": "HEMOGLOBIN J (TONGARIKI)" + }, + { + "baseId": "30804", + "text": "HEMOGLOBIN J (TORONTO)" + }, + { + "baseId": "30805", + "text": "HEMOGLOBIN JACKSON" + }, + { + "baseId": "30806", + "text": "HEMOGLOBIN KARACHI" + }, + { + "baseId": "30807", + "text": "HEMOGLOBIN KARIYA" + }, + { + "baseId": "30808", + "text": "HEMOGLOBIN KAWACHI" + }, + { + "baseId": "30809", + "text": "HEMOGLOBIN KOELLIKER" + }, + { + "baseId": "30809", + "text": "HEMOGLOBIN F (KOELLIKER)" + }, + { + "baseId": "30810", + "text": "HEMOGLOBIN KOKURA" + }, + { + "baseId": "30810", + "text": "HEMOGLOBIN BEILINSON" + }, + { + "baseId": "30810", + "text": "HEMOGLOBIN MICHIGAN-I" + }, + { + "baseId": "30810", + "text": "HEMOGLOBIN MICHIGAN-II" + }, + { + "baseId": "30810", + "text": "HEMOGLOBIN L (GASLINI)" + }, + { + "baseId": "30810", + "text": "HEMOGLOBIN TAGAWA II" + }, + { + "baseId": "30810", + "text": "HEMOGLOBIN UMI" + }, + { + "baseId": "30810", + "text": "HEMOGLOBIN MUGINO" + }, + { + "baseId": "30810", + "text": "HEMOGLOBIN YUKUHASHI-2" + }, + { + "baseId": "30811", + "text": "HEMOGLOBIN L (PERSIAN GULF)" + }, + { + "baseId": "30812", + "text": "HEMOGLOBIN LEGNANO" + }, + { + "baseId": "30813", + "text": "HEMOGLOBIN LE LAMENTIN" + }, + { + "baseId": "30814", + "text": "HEMOGLOBIN LILLE" + }, + { + "baseId": "30815", + "text": "HEMOGLOBIN LOIRE" + }, + { + "baseId": "30816", + "text": "HEMOGLOBIN LUXEMBOURG" + }, + { + "baseId": "30817", + "text": "HEMOGLOBIN M (BOSTON)" + }, + { + "baseId": "30817", + "text": "HEMOGLOBIN GOTHENBURG" + }, + { + "baseId": "30817", + "text": "HEMOGLOBIN M (GOTHENBURG)" + }, + { + "baseId": "30817", + "text": "HEMOGLOBIN M (OSAKA)" + }, + { + "baseId": "30817", + "text": "HEMOGLOBIN M (KISKUNHALAS)" + }, + { + "baseId": "30818", + "text": "HEMOGLOBIN M (IWATE)" + }, + { + "baseId": "30818", + "text": "HEMOGLOBIN M (KANKAKEE)" + }, + { + "baseId": "30818", + "text": "HEMOGLOBIN M (OLDENBURG)" + }, + { + "baseId": "30818", + "text": "HEMOGLOBIN M (SENDAI)" + }, + { + "baseId": "30819", + "text": "HEMOGLOBIN MATSUE-OKI" + }, + { + "baseId": "30820", + "text": "HEMOGLOBIN MEMPHIS" + }, + { + "baseId": "30821", + "text": "HEMOGLOBIN MEXICO" + }, + { + "baseId": "30821", + "text": "HEMOGLOBIN J" + }, + { + "baseId": "30821", + "text": "HEMOGLOBIN J (MEXICO)" + }, + { + "baseId": "30821", + "text": "HEMOGLOBIN J (PARIS 2)" + }, + { + "baseId": "30821", + "text": "HEMOGLOBIN UPPSALA" + }, + { + "baseId": "30822", + "text": "HEMOGLOBIN MILLEDGEVILLE" + }, + { + "baseId": "30823", + "text": "HEMOGLOBIN MIYANO" + }, + { + "baseId": "30824", + "text": "HEMOGLOBIN MIZUSHI" + }, + { + "baseId": "30825", + "text": "HEMOGLOBIN MOABIT" + }, + { + "baseId": "30826", + "text": "HEMOGLOBIN NECKER ENFANTS-MALADES" + }, + { + "baseId": "30827", + "text": "HEMOGLOBIN NIGERIA" + }, + { + "baseId": "30828", + "text": "HEMOGLOBIN NOKO" + }, + { + "baseId": "30829", + "text": "HEMOGLOBIN NORFOLK" + }, + { + "baseId": "30829", + "text": "HEMOGLOBIN J (NORFOLK)" + }, + { + "baseId": "30829", + "text": "HEMOGLOBIN KAGOSHIMA" + }, + { + "baseId": "30829", + "text": "HEMOGLOBIN NISHIK" + }, + { + "baseId": "30830", + "text": "HEMOGLOBIN NOUAKCHOTT" + }, + { + "baseId": "30831", + "text": "HEMOGLOBIN NUNOBIKI" + }, + { + "baseId": "30832", + "text": "HEMOGLOBIN O (INDONESIA)" + }, + { + "baseId": "30832", + "text": "HEMOGLOBIN O (BUGINESE-X)" + }, + { + "baseId": "30832", + "text": "HEMOGLOBIN BUGINESE-X" + }, + { + "baseId": "30832", + "text": "HEMOGLOBIN O (OLIVIERE)" + }, + { + "baseId": "30832", + "text": "HEMOGLOBIN OLIVIERE" + }, + { + "baseId": "30833", + "text": "HEMOGLOBIN O (PADOVA)" + }, + { + "baseId": "30834", + "text": "HEMOGLOBIN OGI" + }, + { + "baseId": "30834", + "text": "HEMOGLOBIN QUEENS" + }, + { + "baseId": "30835", + "text": "HEMOGLOBIN OLEANDER" + }, + { + "baseId": "30836", + "text": "HEMOGLOBIN OTTAWA" + }, + { + "baseId": "30836", + "text": "HEMOGLOBIN SIAM" + }, + { + "baseId": "30837", + "text": "HEMOGLOBIN OWARI" + }, + { + "baseId": "30838", + "text": "HEMOGLOBIN PERSPOLIS" + }, + { + "baseId": "30839", + "text": "HEMOGLOBIN PETAH TIKVA" + }, + { + "baseId": "30840", + "text": "HEMOGLOBIN PONTOISE" + }, + { + "baseId": "30840", + "text": "HEMOGLOBIN J (PONTOISE)" + }, + { + "baseId": "30841", + "text": "HEMOGLOBIN PORT PHILLIP" + }, + { + "baseId": "30842", + "text": "HEMOGLOBIN Q (INDIA)" + }, + { + "baseId": "30843", + "text": "HEMOGLOBIN Q (IRAN)" + }, + { + "baseId": "30844", + "text": "HEMOGLOBIN REIMS" + }, + { + "baseId": "30845", + "text": "HEMOGLOBIN RUSS" + }, + { + "baseId": "30846", + "text": "HEMOGLOBIN SASSARI" + }, + { + "baseId": "30847", + "text": "HEMOGLOBIN SAVARIA" + }, + { + "baseId": "30848", + "text": "HEMOGLOBIN SAWARA" + }, + { + "baseId": "30849", + "text": "HEMOGLOBIN SETIF" + }, + { + "baseId": "30850", + "text": "HEMOGLOBIN SHAARE ZEDEK" + }, + { + "baseId": "30851", + "text": "HEMOGLOBIN SHENYANG" + }, + { + "baseId": "30852", + "text": "HEMOGLOBIN SHIMONOSEKI" + }, + { + "baseId": "30852", + "text": "HEMOGLOBIN HIKOSHIMA" + }, + { + "baseId": "30853", + "text": "HEMOGLOBIN SHUANGFENG" + }, + { + "baseId": "30854", + "text": "HEMOGLOBIN SINGAPORE" + }, + { + "baseId": "30855", + "text": "HEMOGLOBIN ST. CLAUDE" + }, + { + "baseId": "30856", + "text": "HEMOGLOBIN ST. LUKE'S" + }, + { + "baseId": "30857", + "text": "HEMOGLOBIN STANLEYVILLE-II" + }, + { + "baseId": "30858", + "text": "HEMOGLOBIN STRUMICA" + }, + { + "baseId": "30858", + "text": "HEMOGLOBIN SERBIA" + }, + { + "baseId": "30859", + "text": "HEMOGLOBIN SUNSHINE SETH" + }, + { + "baseId": "30860", + "text": "HEMOGLOBIN SURESNES" + }, + { + "baseId": "30861", + "text": "HEMOGLOBIN SWAN RIVER" + }, + { + "baseId": "30862", + "text": "HEMOGLOBIN THAILAND" + }, + { + "baseId": "30863", + "text": "HEMOGLOBIN TITUSVILLE" + }, + { + "baseId": "30864", + "text": "HEMOGLOBIN TOKONAME" + }, + { + "baseId": "30865", + "text": "HEMOGLOBIN TORINO" + }, + { + "baseId": "30866", + "text": "HEMOGLOBIN TOTTORI" + }, + { + "baseId": "30867", + "text": "HEMOGLOBIN TOYAMA" + }, + { + "baseId": "30868", + "text": "HEMOGLOBIN TWIN PEAKS" + }, + { + "baseId": "30869", + "text": "HEMOGLOBIN WUMING" + }, + { + "baseId": "30869", + "text": "HEMOGLOBIN J (WENCHANG-WUMING)" + }, + { + "baseId": "30870", + "text": "HEMOGLOBIN UBE-2" + }, + { + "baseId": "30871", + "text": "HEMOGLOBIN UBE-4" + }, + { + "baseId": "30872", + "text": "HEMOGLOBIN WESTMEAD" + }, + { + "baseId": "30873", + "text": "HEMOGLOBIN WINNIPEG" + }, + { + "baseId": "30874", + "text": "HEMOGLOBIN WOODVILLE" + }, + { + "baseId": "30875", + "text": "HEMOGLOBIN ZAMBIA" + }, + { + "baseId": "30876", + "text": "HEMOGLOBIN BELLIARD" + }, + { + "baseId": "30877", + "text": "HEMOGLOBIN TONOSHO" + }, + { + "baseId": "30878", + "text": "HEMOGLOBIN FUKUTOMI" + }, + { + "baseId": "30879", + "text": "HEMOGLOBIN PORT HURON" + }, + { + "baseId": "30880", + "text": "HEMOGLOBIN PAVIE" + }, + { + "baseId": "30881", + "text": "HEMOGLOBIN QUESTEMBERT" + }, + { + "baseId": "30882", + "text": "HEMOGLOBIN THIONVILLE" + }, + { + "baseId": "30883", + "text": "HEMOGLOBIN KANAGAWA" + }, + { + "baseId": "30884", + "text": "HEMOGLOBIN TURRIFF" + }, + { + "baseId": "30885", + "text": "HEMOGLOBIN ZAIRE" + }, + { + "baseId": "30886", + "text": "HEMOGLOBIN LUTON" + }, + { + "baseId": "30887", + "text": "HEMOGLOBIN OZIERI" + }, + { + "baseId": "30888", + "text": "HEMOGLOBIN ADANA" + }, + { + "baseId": "30889", + "text": "HEMOGLOBIN AL-AIN ABU DHABI" + }, + { + "baseId": "30890", + "text": "HEMOGLOBIN POITIERS" + }, + { + "baseId": "30891", + "text": "HEMOGLOBIN CAEN" + }, + { + "baseId": "30892", + "text": "HEMOGLOBIN YUDA" + }, + { + "baseId": "30893", + "text": "HEMOGLOBIN CAPA" + }, + { + "baseId": "30894", + "text": "HEMOGLOBIN MONTEFIORE" + }, + { + "baseId": "30895", + "text": "HEMOGLOBIN ROUEN" + }, + { + "baseId": "30895", + "text": "HEMOGLOBIN ETHIOPIA" + }, + { + "baseId": "30896", + "text": "HEMOGLOBIN MELUSINE" + }, + { + "baseId": "30897", + "text": "HEMOGLOBIN TAYBE" + }, + { + "baseId": "30898", + "text": "HEMOGLOBIN CEMENELUM" + }, + { + "baseId": "30899", + "text": "HEMOGLOBIN RAMONA" + }, + { + "baseId": "30900", + "text": "HEMOGLOBIN TATRAS" + }, + { + "baseId": "30901", + "text": "HEMOGLOBIN LISBON" + }, + { + "baseId": "30902", + "text": "HEMOGLOBIN ROANNE" + }, + { + "baseId": "30903", + "text": "HEMOGLOBIN MALHACEN" + }, + { + "baseId": "30904", + "text": "HEMOGLOBIN TUNIS-BIZERTE" + }, + { + "baseId": "30905", + "text": "HEMOGLOBIN BOIS GUILLAUME" + }, + { + "baseId": "30906", + "text": "HEMOGLOBIN MANTES-LA-JOLIE" + }, + { + "baseId": "30907", + "text": "HEMOGLOBIN MOSELLA" + }, + { + "baseId": "30908", + "text": "HEMOGLOBIN FUCHU-I" + }, + { + "baseId": "30909", + "text": "HEMOGLOBIN FUCHU-II" + }, + { + "baseId": "30910", + "text": "HEMOGLOBIN GOUDA" + }, + { + "baseId": "30911", + "text": "HEMOGLOBIN J (BISKRA)" + }, + { + "baseId": "30912", + "text": "HEMOGLOBIN GODAVARI" + }, + { + "baseId": "30913", + "text": "HEMOGLOBIN OITA" + }, + { + "baseId": "30914", + "text": "HEMOGLOBIN AGHIA SOPHIA" + }, + { + "baseId": "30915", + "text": "HEMOGLOBIN CHAROLLES" + }, + { + "baseId": "30916", + "text": "HEMOGLOBIN ROUBAIX" + }, + { + "baseId": "30917", + "text": "HEMOGLOBIN DOUALA" + }, + { + "baseId": "30920", + "text": "HEMOGLOBIN DELFZICHT" + }, + { + "baseId": "30921", + "text": "HEMOGLOBIN SARATOGA SPRINGS" + }, + { + "baseId": "30922", + "text": "HEMOGLOBIN DIE" + }, + { + "baseId": "30923", + "text": "HEMOGLOBIN BEZIERS" + }, + { + "baseId": "30924", + "text": "HEMOGLOBIN BUFFALO" + }, + { + "baseId": "30925", + "text": "HEMOGLOBIN VILLEURBANNE" + }, + { + "baseId": "30926", + "text": "HEMOGLOBIN TOKYO" + }, + { + "baseId": "30927", + "text": "HEMOGLOBIN TAMANO" + }, + { + "baseId": "30928", + "text": "HEMOGLOBIN RICCARTON" + }, + { + "baseId": "30929", + "text": "HEMOGLOBIN OEGSTGEEST" + }, + { + "baseId": "30930", + "text": "HEMOGLOBIN LAMEN ISLAND" + }, + { + "baseId": "30932", + "text": "HEMOGLOBIN AUCKLAND" + }, + { + "baseId": "30934|30935", + "text": "Heme oxygenase 1 deficiency" + }, + { + "baseId": "30936", + "text": "Pulmonary disease, chronic obstructive, susceptibility to" + }, + { + "baseId": "30937", + "text": "HAPTOGLOBIN, ALPHA-1, FAST-SLOW POLYMORPHISM" + }, + { + "baseId": "30938", + "text": "Haptoglobin, alpha-2" + }, + { + "baseId": "30939|30940|30941|227380", + "text": "Anhaptoglobinemia" + }, + { + "baseId": "30939", + "text": "Hypohaptoglobinemia" + }, + { + "baseId": "30942|30943", + "text": "Granulosa cell tumor of the ovary" + }, + { + "baseId": "30942|30943", + "text": "Thecoma, somatic" + }, + { + "baseId": "30945", + "text": "Ventricular tachycardia, somatic" + }, + { + "baseId": "30949|30955|30956|77518|77520|77561|317865|317866|317877|317878|317884|317886|317888|317890|317901|317902|325742|325744|325757|325760|331990|331994|331999|332000|332003|332006|332018|332032|332034|333500|333506|333512|333518|870136|870137|870138|870139|870140|870141|870142|870143|872262", + "text": "Nonepidermolytic palmoplantar keratoderma" + }, + { + "baseId": "30957", + "text": "Keratosis palmoplantaris striata 3" + }, + { + "baseId": "30958", + "text": "Ichthyosis histrix, curth-macklin type" + }, + { + "baseId": "30960", + "text": "Epidermolytic hyperkeratosis, late-onset" + }, + { + "baseId": "30961|30962|30963|30964|192402|194412|195978|249359|249360|249361|275830|275837|275838|275972|276046|276047|276058|276059|276074|513227|612232|612233|612234|612235|612236|612237|612238|612239|612240|612241|612242|612243|612244|612245|612246|612247|612248|612249|612250|800346|861875|861876|861877|861878|861879|861880|861881|864958|864959|864960", + "text": "Achromatopsia 4" + }, + { + "baseId": "30965|188775|291123|291124|291125|291130|291131|291137|291139|292094|292096|292101|292117|292118|292119|292121|292122|295451|295455|295471|295472|295475|295476|295477|295492|295493|295500|295503|295638|295642|295646|295648|295649|295650|295656|295667|481553|622331|889391|889392|889393|889394|889395|889396|889397|889398|889399|889400|889401|889402|889403|889404|891690", + "text": "Congenital stationary night blindness, autosomal dominant 3" + }, + { + "baseId": "30966|30967|30968|30969|30970|30971|30977|30978|30979|30985|30986|30987|30988|30989|30990|30992|30996|30997|205793|213658|424627|623387|677060|679724|742480|804854|804855|805116|964535|969616", + "text": "Pseudohypoparathyroidism" + }, + { + "baseId": "30967|30968|30977|30979|30980|30981|30982|30986|30987|30989|30992|205793|424627|440007|575506|609150|622923|969617|983470", + "text": "Pseudopseudohypoparathyroidism" + }, + { + "baseId": "30968|30977|30988|30991", + "text": "Progressive osseous heteroplasia" + }, + { + "baseId": "30972|30973|30974|30976|30984|206650|206651|206652|206653|612198|791993|791994", + "text": "McCune-Albright syndrome" + }, + { + "baseId": "30972|30973", + "text": "Sex cord-stromal tumor" + }, + { + "baseId": "30972|30973|30976", + "text": "Cushing's syndrome" + }, + { + "baseId": "30972|30973|30974|30975", + "text": "Pituitary adenoma 3, multiple types" + }, + { + "baseId": "30976", + "text": "PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC" + }, + { + "baseId": "30976", + "text": "Polyostotic fibrous dysplasia, somatic, mosaic" + }, + { + "baseId": "30983", + "text": "PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS" + }, + { + "baseId": "30994", + "text": "Prolonged bleeding time, brachydactyly, and mental retardation" + }, + { + "baseId": "30998|38700|38701|38702|213658", + "text": "Pseudohypoparathyroidism type 1C" + }, + { + "baseId": "31000", + "text": "GMP REDUCTASE POLYMORPHISM" + }, + { + "baseId": "31001|31002|31003|31004|132698|132703|132705|132706|153653|273740|346745|426238|971087", + "text": "Ateleiotic dwarfism" + }, + { + "baseId": "31005|31006|31015|44937|44938|44939|44940|71561|94317|171271|171272|171273|195265|195598|268806|271375|273740|302808|302809|306162|306163|306164|306165|310912|310914|310916|310923|310924|311095|311098|311103|311105|311115|346745|588296|614551|620259|620260|744281|750614|897984|897985|897986|897987|897988|897989|897990|897991|897992|897993|897994|897995|897996|897997|897998|897999|898000|898001|898002|900353|900354|900355|900356", + "text": "Isolated growth hormone deficiency type 1B" + }, + { + "baseId": "31007|31009|31010|31011|31012|31014|31016|31017|31018|31019|31021|31022|31023|31024|192241|273740|346745", + "text": "Autosomal dominant isolated somatotropin deficiency" + }, + { + "baseId": "31008|31013|31020|273740|346745", + "text": "Short stature due to growth hormone qualitative anomaly" + }, + { + "baseId": "31025|31026|31027", + "text": "GC1/GC2 POLYMORPHISM" + }, + { + "baseId": "31028|31029|31030|31031|31032|31033|31034", + "text": "Isolated growth hormone deficiency, type 4" + }, + { + "baseId": "31038|31039|31040|31041|31042|209858|209860|209861|239859|239860|239861|239862|239863|239864|239865|298319|298323|298324|298325|298328|298331|298335|298336|298339|298340|298348|298354|300625|300626|300636|300637|300639|300640|304909|304910|304913|304923|304948|304960|304961|304962|304965|304969|304972|304988|304989|305124|305125|305133|305146|305149|305150|305151|305155|305168|305169|305172|305175|305183|305187|395154|395163|395638|395639|453625|455058|455059|455063|455250|455262|455718|455721|455724|455972|455980|455980|455987|455990|455994|514268|521254|521256|521258|521545|521548|521618|521864|521865|521866|560385|560387|560389|560391|560393|560496|560498|563237|563246|563251|565202|565211|634451|634452|634454|634456|634457|634458|634459|634461|634462|634463|634464|651332|651385|651395|651399|651484|651486|683746|683747|894835|894836|894837|894838|894839|894841|894842|894843|894844|894845|894846|894847|894848|894849|894850|894851|894852|894853|896143|961821|961822|975858", + "text": "Capillary malformation-arteriovenous malformation 1" + }, + { + "baseId": "31043", + "text": "GNB3 POLYMORPHISM" + }, + { + "baseId": "31044", + "text": "Hereditary neutrophilia" + }, + { + "baseId": "31045|31046|31047|31048|31049|31050|31051|31052|31053|31053|31058|31059|31060|31061|38697|38697|38698|104011|104012|104012|104015|104015|104017|104018|104022|104023|104026|104027|104027|104029|104036|104036|104037|104042|104042|104044|104049|104051|104051|104055|104057|104057|104061|104069|104070|104070|104072|104072|104073|104073|104074|104076|104081|104081|104083|104138|104138|191016|193498|193498|199868|199869|256200|256200|256201|256201|256202|256202|328684|328690|328691|338668|338672|344735|344739|344741|344743|346134|346138|346138|430968|441960|441962|445782|445783|468266|480432|480432|531144|571526|571530|571532|577633|577634|577635|577635|577636|580331|580331|580334|580336|580372|580515|620591|646081|646082|646083|646084|646084|646085|646086|653280|694088|776327|791780|791781|798712|798713|798714|798715|798716|821098|845492|845493|852752|877735|877736|877737|877737|877738|877739|877740|877741|877742|877743|877744|877745|877746|877747|877748|880532|880533|880534|880535|880536|880537|928337|928338|928339|928340|937984|937985|964880|971080", + "text": "Grn-related frontotemporal lobar degeneration with Tdp43 inclusions" + }, + { + "baseId": "31053|31059|38697|104012|104015|104017|104018|104023|104027|104036|104037|104042|104049|104051|104055|104057|104070|104072|104073|104081|104083|104138|191016|193498|256200|256201|256202|346138|441960|441962|445782|445783|468266|480432|513644|531144|571526|571530|571532|577635|577636|580331|580334|580336|580372|580515|646081|646082|646083|646084|646085|646086|653280|694088|776327|821098|845492|845493|852752|877737|919732|928337|928338|928339|928340|937984|937985", + "text": "Ceroid lipofuscinosis, neuronal, 11" + }, + { + "baseId": "31054|31056|31059|104138", + "text": "Primary progressive aphasia" + }, + { + "baseId": "31062|31063|31064|31065|31066|31067|31068|31069|31070|31071|31072|31073|31075|31321|31338|38410|40123|132059|132060|150301|150302|178326|178329|178331|178333|178334|178335|178336|178337|178338|178341|178342|178343|181427|263181|269442|293990|293993|293994|294007|294008|294016|294023|294024|294025|294039|294055|294056|295417|295419|295420|295422|295424|295441|295462|295468|295484|295487|295504|295507|295508|295509|299209|299211|299215|299216|299217|299227|299229|299236|299238|299242|299243|299245|299247|299248|299255|299257|299258|299261|299264|299265|299273|299275|299278|299279|299280|299281|299283|299284|299286|299287|299288|299291|361060|361062|443633|482006|620173|626007|697013|709414|790043|790044|892069|892070|892071|892072|892073|892074|892075|892076|892077|892078|892079|892080|892081|892082|892083|892084|892085|892086|892087|892088|892089|892090|892091|892092|892093|892094|892095|892096|892097|892098|892099|892100|892101|892102|892103|892104|919116|919258", + "text": "Hypogonadotropic hypogonadism 7 with or without anosmia" + }, + { + "baseId": "31062", + "text": "Isolated congenital hypogonadotropic hypogonadism" + }, + { + "baseId": "31062", + "text": "Gonadotropin deficiency" + }, + { + "baseId": "31070|294004|294014|294021|294042|295463|296541|296564|299213|299239|299240|299263|299268|299274|299282|299297|305011|308722|308723|313876", + "text": "Isolated GnRH Deficiency" + }, + { + "baseId": "31076", + "text": "Autism 1" + }, + { + "baseId": "31077|31078", + "text": "Macrothrombocytopenia, familial, Bernard-Soulier type" + }, + { + "baseId": "31079|31080|169754", + "text": "Bernard-Soulier syndrome, type B" + }, + { + "baseId": "31079|801171", + "text": "Increased mean platelet volume" + }, + { + "baseId": "31081", + "text": "APOH POLYMORPHISM" + }, + { + "baseId": "31082|31083|31084", + "text": "Leanness, susceptibility to" + }, + { + "baseId": "31088|31089|31090|31091|31092|31093|31094|31095|89845|141225|141226|141227|141228|141229|141230|141231|141232|141233|196321|211598|211602|211606|211608|254474|254479|254481|254482|254483|254486|316622|316623|316625|316626|316636|316637|316658|316660|316661|316662|324114|324116|324119|324120|324121|324132|324133|324139|324142|324145|324146|330088|330089|330090|330095|330097|330099|330101|330115|330118|330130|330132|331529|331530|331531|331535|331537|331550|389203|527028|527553|565368|565372|566747|571733|620438|620847|641012|641013|641014|641015|652231|725041|725042|738591|753301|769040|839776|852478|869647|869648|869649|869650|869651|869652|869653|869654|869655|869656|869657|869658|869659|872225|926587|936072|936073|947957|956843", + "text": "Glycogen storage disease due to hepatic glycogen synthase deficiency" + }, + { + "baseId": "31096|133691|166213|193499|334005|334009|334013|334015|334019|334021|334025|334027|334039|334040|334041|334047|334049|343936|343937|343944|343948|343949|343952|343954|343956|343963|343968|343969|343974|343975|349230|349231|349233|349234|349235|349236|349239|349240|349243|349244|350174|350175|350178|350181|350183|350185|350188|350189|350192|350196|350198|350199|353504|353506|353510|353514|353516|377804|377807|379611|422291|446160|489591|507892|507896|533220|572592|572594|572602|575003|576186|648222|648223|648224|648225|648226|648227|648228|648229|648230|648231|648232|656584|742042|742043|742045|742046|757166|797887|821275|821276|821277|847814|847815|847816|847817|847818|847819|847820|847821|847822|847823|847824|847825|847826|847827|847828|851821|852981|882269|882270|882271|882272|882273|882274|882275|882276|882277|882278|882279|882280|882281|882282|882283|882284|882285|882286|882287|882288|882289|882290|882291|882292|882293|882294|882295|882296|882297|882914|882915|929015|929016|929017|929018|929019|929020|929021|929022|929023|938761|938762|938763|938764|938765|938766|938767|938768|938769|940486|940487|941236|950843|950844|950845|950846|958680|958681|958682|958683|958684|958685", + "text": "Glycogen storage disease 0, muscle" + }, + { + "baseId": "31097|31098|40211|292638|292641|292642|292643|292645|292646|292647|292659|292660|292667|292668|292671|294019|294020|294030|294031|294032|294033|294034|294036|294037|294041|294043|294044|294045|297419|297427|297428|297432|297437|297452|297475|297476|297477|297482|297500|297503|297505|297506|297507|519795|519811|520102|559623|563549|563550|632061|632062|632063|651253|698406|709209|720811|734503|748789|764363|790447|828912|828913|890331|890332|890333|890334|890335|890336|890337|890338|890339|890340|890341|890342|890343|890344|890345|890346|890347|890348|890349|891759|891760|923451|953707", + "text": "Hyperekplexia 2" + }, + { + "baseId": "31100", + "text": "Sleep myoclonus" + }, + { + "baseId": "31114|31115", + "text": "Factor B fast/slow polymorphism" + }, + { + "baseId": "31114", + "text": "BF*FA/S" + }, + { + "baseId": "31114|31115|31116|59798|59799|139353|139354|139355|139356|139357|227292|278181|278610|293309|299776|299781|299782|299793|299794|299798|299817|302372|302388|306762|306777|307093|307117|334509|334907|344343|344359|344383|344771|349452|350459|353745|353749|439576|496599", + "text": "Atypical hemolytic uremic syndrome" + }, + { + "baseId": "31114|31115|31116|31118|31119|227292|227293|299798|299800|299801|299802|299808|299809|299810|299817|299818|299823|299824|299825|299832|302401|302405|302413|302414|306782|306810|306818|306821|306823|306824|306825|306828|306830|307103|307110|307117|307120|307123|307132|354166|354167|818242|818243|818244|895776|895782|895783|895784|895785|895786|895787|895788|895789|895790|895791|895792|895793|896219|980458", + "text": "Atypical hemolytic-uremic syndrome 4" + }, + { + "baseId": "31121", + "text": "GLUTATHIONE PEROXIDASE POLYMORPHISM" + }, + { + "baseId": "31122|31123|38689|277506|277509|277514|277529|277538|277542|277543|277545|277558|277563|277566|277583|277587|277589|277593|277594|277595|277605|277624|277625|277629|277630|277633|277634|277635|277636|277637|277700|277702|277718|277719|277729|277731|277736|277738|277745|277746|277755|277756|277764|277765|277766|277767|277770|277771|277776|277777|277780|278609|278611|278615|278617|278618|278619|278620|278621|278623|278633|278646|278648|278651|278652|278653|278664|278665|278666|278668|278673|278686|278687|278695|278698|278699|278708|278709|278711|278712|278720|278721|278722|278734|278735|278739|278741|278742|278743|278745|278747|278748|278749|278773|353070|578371|706912|731905|862869|862870|862871|862872|862873|862874|862875|862876|862877|862878|862879|862880|862881|862882|862883|862884|862885|862886|862887|862888|862889|862890|862891|862892|862893|862894|862895|862896|862897|862898|862899|862900|862901|862902|862903|862904|862905|862906|862907|862908|930178|941592", + "text": "Congenital brain dysgenesis due to glutamine synthetase deficiency" + }, + { + "baseId": "31124|31125|38682|166329|166330|213604|213762|213763|213905|213920|253949|253951|253951|253952|311775|311779|311782|311782|311783|311783|311797|311799|311800|311800|311803|311811|317390|317392|317397|317399|317399|317400|317402|317414|317414|323413|323420|323423|323424|323424|323427|323434|323434|323437|323446|323455|323462|324029|324030|324046|324059|324060|324061|324069|324069|324070|324070|324072|324075|371913|373610|373610|373621|373621|373627|413295|421812|434637|437871|437871|460344|460358|460416|460700|460701|461164|461165|461169|502966|503312|503866|525626|525626|550619|566648|566650|566654|566655|566660|569906|569909|621898|626418|639320|639321|639322|639323|639324|639326|652348|652348|665615|692901|692902|692903|712533|712534|724130|775702|783785|798629|837521|837522|837523|837524|837525|837526|837527|859828|866634|866635|866636|866637|866638|866639|866640|866641|866642|866643|866644|866645|868543|868544|868545", + "text": "Cutis laxa, autosomal recessive IIIA" + }, + { + "baseId": "31126|187134", + "text": "Mental retardation, autosomal recessive 6" + }, + { + "baseId": "31127", + "text": "GLUTAMIC PYRUVATE TRANSAMINASE POLYMORPHISM" + }, + { + "baseId": "31130|31131|31132|31134|31135|31136|31137|31138|31139|31140|31141|31142|31143|135795|135796|135797|135798|196172|251001|251002|251003|251004|251005|251006|289481|289486|289488|289491|289503|289506|289507|289509|289510|290252|290253|290255|290256|290257|290258|290259|290263|290265|290266|290278|290279|290281|293350|293361|293363|293768|293770|293771|293772|293774|293777|293778|293779|293779|293780|293787|293788|293798|414921|414921|418963|438543|451944|493692|500665|513047|513531|513532|518977|519148|519152|539992|558836|558838|559379|561258|620121|631046|748097|779098|827709|851548|888366|888367|888368|888369|888370|888371|888372|888373|888374|888375|888376|888377|888378|888379|888380|888381|888382|888383|888384|891619", + "text": "Fanconi-Bickel syndrome" + }, + { + "baseId": "31144|31145|31146|31149|31150|31152|31153|31157|101305|101306|101310|101311|101312|101313|101315|101316|101317|102597|142857|142858|142862|142864|142869|142870|142871|167987|167988|167989|167990|167991|167993|167994|167995|167996|195706|196002|196003|198605|201142|201142|201149|201150|201157|201160|201163|201165|201169|201170|201174|201177|206798|206799|237523|259669|264004|271180|280556|280569|280577|280578|280583|280585|280596|280599|280600|281019|281020|281021|281036|281037|281040|281041|281050|281051|281052|281063|281065|281070|282308|282314|282331|282346|282347|282558|282560|282561|282562|282566|282567|282568|282579|391203|434754|442473|481468|486609|498499|515910|536593|556476|589826|611376|614219|614220|622863|627870|627878|653850|789966|789967|789968|789969|794674|798473|798474|864437|864438|864439|864440|864441|864442|864443|864444|864445|864446|864447|864448|864449|864450|864451|864452|864453|961587|963494|964156|964157|980580", + "text": "GLUT1 deficiency syndrome 1" + }, + { + "baseId": "31147|31148|31152|31156|31157|31158|31159|45874|45875|101305|101306|101307|101309|101311|101314|101315|101316|101317|102597|102598|142858|142859|142860|142861|142862|142863|142864|142866|142868|142869|142870|142871|167990|167992|167994|194443|195356|195704|195706|196003|201124|201125|201126|201127|201128|201129|201131|201132|201133|201137|201142|201147|201148|201149|201157|201163|201166|201168|201169|201170|206798|206799|238281|238282|264004|271180|280596|360813|365203|365206|365230|365276|365280|365281|365283|365284|365294|391203|391208|391241|391243|427818|434754|437804|440512|442473|447914|448081|448082|448091|448139|448231|448233|485999|486000|498499|498697|511275|511276|514877|515884|515892|515900|515901|515902|515903|515907|515908|515910|515912|515913|515941|515946|515954|516000|516001|516002|536593|556501|557059|557061|557063|557272|557274|557276|557278|557333|557335|557337|557339|557341|558517|578807|627861|627862|627863|627864|627865|627866|627867|627868|627869|627870|627871|627872|627873|627874|627875|627876|627877|627878|627879|627880|627881|650715|683328|685733|685734|690604|690605|696749|746481|800985|818967|818968|818969|823981|823982|823983|823984|823985|823986|823987|823988|823989|823990|823991|850969|851303|922023|922024|922025|922026|922027|922028|922029|930490|930491|930492|930493|930494|939814|941945|941946|941947|941948|941949|941950|952414|952415|952416|952417|959556", + "text": "GLUT1 deficiency syndrome 1, autosomal recessive" + }, + { + "baseId": "31151|31152|31153|31154|31155|31156|31157|31158|38678|102597|196002|196003|201142|201142|201157|201174|206798|225820|225834|280596|391203|426739|434754|611376|614219|614220|800753|816520|858512|961587|965620|977176", + "text": "GLUT1 deficiency syndrome 2" + }, + { + "baseId": "31157|45874|101305|101306|101310|101311|101312|101313|101315|101316|101317|102597|142857|142858|142864|142869|142870|142871|167990|167993|195706|196002|196003|201142|201149|201157|201163|201165|201169|201170|201174|201177|206798|206799|271180|280556|280569|280577|280578|280583|280585|280596|280599|280600|281019|281020|281021|281036|281037|281040|281041|281050|281051|281052|281063|281065|281070|282308|282314|282331|282346|282347|282558|282560|282561|282562|282566|282567|282568|282579|391203|434754|498499|515910|536593|611376|614219|614220|794674|823985|864437|864438|864439|864440|864441|864442|864443|864444|864445|864446|864447|864448|864449|864450|864451|864452|864453|961587", + "text": "Dystonia 9" + }, + { + "baseId": "31157|102597|196002|196003|196003|201142|201157|201174|206798|215041|215042|391203|611376|614219|614220|961587", + "text": "Stomatin-deficient cryohydrocytosis with neurologic defects" + }, + { + "baseId": "31160|31161|31162|31163|31164|31165|31166|31167|31168|134607|134608|134609|134610|207795|227339|227919|253899|311493|311494|311495|311501|311503|317060|317061|317062|317073|317074|317075|317076|317078|317079|323058|323059|323061|323062|323078|323091|323655|323667|323669|323676|323677|323695|323696|323699|407950|525575|525886|539030|577159|639258|639259|744467|768029|783762|837407|837408|866477|866478|866479|866480|866481|866482|866483|866484|866485|866486|866487|866488|866489|868526|868527|919300|956261|956262|970923", + "text": "Hyperinsulinism-hyperammonemia syndrome" + }, + { + "baseId": "31160", + "text": "Familial hyperinsulinemia" + }, + { + "baseId": "31169|31170|40268|40269|40270|40271|189064", + "text": "Cortisone reductase deficiency 1" + }, + { + "baseId": "31171|31173|31174|31175|31176|31177|31178|31180|31184|44827|44828|44829|44830|44831|44832|44834|44835|44836|44837|44838|44839|44840|44841|44842|44843|44844|44845|44846|44847|44848|44849|44850|44851|44852|44853|44854|44855|44856|44857|44858|44859|44860|44861|44862|44863|44864|44864|44865|44866|44867|44868|44869|44870|44871|44872|44873|44874|44875|44876|44877|44878|44879|44880|44881|44882|44884|44886|44887|44888|44889|44890|44891|44892|44893|44894|44895|44896|44898|44899|44900|44901|44902|44903|44904|44905|44906|44907|44907|44908|44909|44910|44911|44912|44913|44914|44915|44916|44917|44918|44919|44920|44921|44922|44923|44924|44925|44926|44927|44928|44929|44930|44931|44932|44933|44934|44935|48358|134590|134590|134593|207484|207485|207486|217193|236860|237582|237750|252883|252884|259865|303069|303070|303071|303072|303073|303074|306341|306345|306346|306347|311169|311170|311172|311173|311302|311303|311306|311310|311312|380268|380270|380271|407147|407150|415104|421632|425758|428721|428722|428724|428725|428726|428727|428729|428730|428730|428732|428733|428734|428735|428737|428738|441126|513065|513066|513067|576978|609049|609050|611361|619858|759683|790723|790724|790725|792671|793237|793240|898116|898117|898118|898119|898120|898121|898122|898123|898124|898125|898126|898127|898128|898129|898130|898131|898132|898133|898134|900365|900366|900367|900368|904271|961068|961069|961070|961071|961072|961073|961074|961075|961076|961077|961078|961285|961569|964289|964290|964291|969738", + "text": "Maturity-onset diabetes of the young, type 2" + }, + { + "baseId": "31173|31180", + "text": "Permanent neonatal diabetes mellitus 1" + }, + { + "baseId": "31179|31182|31183|31185|44864|44866|44870|44872|44877|44886|44899|44906|44907|134590|134593|207485|252883|252884|259865|303069|303070|303071|303072|303073|303074|306341|306345|306346|306347|311169|311170|311172|311173|311302|311303|311306|311310|311312|428720|428723|428730|428735|428737|428738|441126|576978|759683|898116|898117|898118|898119|898120|898121|898122|898123|898124|898125|898126|898127|898128|898129|898130|898131|898132|898133|898134|900365|900366|900367|900368", + "text": "Hyperinsulinism due to glucokinase deficiency" + }, + { + "baseId": "31186|31187|31189|31190|31191|31193|31194|31195|31196|31197|165651|295714|295715|295719|295722|295723|295724|295730|295732|295736|295739|295748|295751|295752|295753|295757|295758|295762|295768|295769|297551|297552|297556|297558|297561|297563|297566|297581|297582|297583|301396|301399|301400|301404|301406|301408|301410|301419|301420|301423|301424|301426|301445|301446|301447|301450|301454|301455|301472|301597|301598|301600|301601|301604|301625|301626|301641|301646|301647|301648|301650|301653|301665|301678|301679|721273|734895|749285|764933|893142|893143|893144|893145|893146|893147|893148|893149|893150|893151|893152|893153|893154|893155|893156|893157|893158|893159|893160|893161|893162|893163|893164|893165|893166|893167|893168|893169|893170|893171|893172|893173|893174|893175|893176|893177|893178|893179|893180|893181|893182|893183|893184|893185|893186|893187|893188|893189|893190|893191|893192|893193|893194|893195|896053|896054", + "text": "Glucocorticoid resistance, generalized" + }, + { + "baseId": "31188", + "text": "Glucocorticoid resistance, cellular" + }, + { + "baseId": "31189", + "text": "GLUCOCORTICOID RECEPTOR POLYMORPHISM" + }, + { + "baseId": "31192", + "text": "Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance" + }, + { + "baseId": "31193", + "text": "Glucocorticoid resistance, relative" + }, + { + "baseId": "31199|31200|31201|31202|31203|31204|31205|46909|46910|46911|46912|46913|46914|46915|46916|46917|46918|46919|46920|46921|46922|192333|210810|210811|244007|267822|268397|274680|285823|285827|286553|286555|286556|286557|286561|288795|288797|288800|289216|366331|366592|367172|405707|405708|405709|512982|512983|512984|512985|512986|512987|512988|585073|586019|623131|623132|679728|682251|682252|682253|682254|682255|682256|682257|691120|884563|884564|884565|884566|884567|884568|884569|884570|884571|975716", + "text": "Navajo neurohepatopathy" + }, + { + "baseId": "31206|31207|31208|31209|31210|31211|31212|31213|31214|31215|31216|31217|31218|77325|77326|77327|77328|77329|77330|77331|77332|77333|77334|77335|77336|77337|77338|77340|77344|77345|77349|77350|77351|77353|77354|77356|77357|77358|77360|77361|77362|77363|77364|77365|77367|77368|77369|77370|77372|77374|77375|77376|77377|77378|77381|77385|77388|77389|77390|77391|77392|77393|77394|77395|77396|77397|77398|77399|77401|77402|77404|77411|77412|188159|188160|188161|188162|188163|188164|188165|188166|188167|188168|188169|188170|188171|188172|188173|188174|188175|188176|188177|188178|188179|188180|188181|188182|188183|188184|188185|188186|188187|188188|188189|188190|188191|188192|188193|188194|227391|338735|344817|344820|346185|346206|361227|513469|539072|581912|624864|791783|794270|797549|906206|919735|919736", + "text": "Alexander Disease" + }, + { + "baseId": "31219|31220|306647|306648|306655|306657|306659|306660|306664|306665|306668|306669|306671|310827|310837|310838|310839|310843|310845|310849|316265|316276|316285|316287|316291|316292|316295|316301|316316|316334|316335|316348|316349|316363|316367|316575|316581|316582|316583|316585|316592|316609|620317|711742|723308|730604|736859|751372|767080|900971|900972|900973|900974|900975|900976|900977|900978|900979|900980|900981|900982|900983|900984|900985|900986|900987|900988|900989|900990|900991|900992|900993|900994|900995|903307|903308|903309|919183|973055", + "text": "Meretoja syndrome" + }, + { + "baseId": "31221|31222|31223|31224|31225|31226|31227|31228|280953|280954|280955|280967|280969|281497|281502|281504|281507|281508|281509|281510|281525|282697|282703|282705|282706|282707|282724|282727|282728|282729|282734|282741|282978|282980|282981|282982|282992|282993|282995|719034|864652|864653|864654|864655|864656|864657|864658|864659|864660|864661|864662|864663", + "text": "Lattice corneal dystrophy Type III" + }, + { + "baseId": "31229", + "text": "Insomnia" + }, + { + "baseId": "31229|31230|224873|242024|242029|255128|255129|255130|361573|373352|373359|374006|374014|374442|376331|376332|376349|400043|400045|400054|400553|400863|400867|409197|441714|463963|464507|464510|464543|464546|464799|464804|464806|464808|482061|504698|505182|505188|505612|505615|528589|528596|528597|528603|528606|528618|528985|528994|529042|529054|529064|529066|539058|566890|566893|568627|568638|568640|569194|569227|569234|573144|573145|580235|643003|643004|643005|643006|643007|643008|643009|652637|656280|684532|688394|688395|770063|820670|820671|822099|822274|842093|842094|842095|842096|842097|842098|842099|842100|927261|927262|927263|936833|936834|936835|936836|936837|936838|948785|948786|957368|960817", + "text": "Epilepsy, childhood absence 1" + }, + { + "baseId": "31229|31230|31231|31232|205778|242024|242029|255128|255129|255130|361573|373352|373359|374006|374014|374442|376331|376332|376349|400043|400045|400054|400553|400863|400867|409197|429630|441714|463963|464507|464510|464543|464546|464799|464804|464806|464808|482061|504698|505182|505188|505612|505615|528589|528596|528597|528603|528606|528618|528985|528994|529042|529054|529064|529066|529066|566890|566893|568627|568638|568640|568640|569194|569227|569234|573144|573145|580235|643003|643004|643005|643006|643007|643008|643009|652637|656280|684532|688394|688395|770063|820670|820671|822099|822274|842093|842094|842095|842096|842097|842098|842099|842100|927261|927262|927263|936833|936834|936835|936836|936837|936838|948785|948786|957368|960817|963786", + "text": "Epilepsy, childhood absence 5" + }, + { + "baseId": "31233|31234|31236|31237|287336|287337|287342|287344|287348|287350|287355|287360|287362|287368|287370|287371|287378|287379|287382|287383|287385|287387|287388|287390|287395|287397|287409|287415|288088|288089|288090|288091|288092|288095|288099|288100|288103|288128|288145|288153|288159|288160|288162|288164|288167|288170|288171|288175|288189|288191|288192|288193|288201|290754|290762|290773|290804|290816|290817|290820|290821|290822|290836|290837|290841|290842|290844|290845|290846|290847|290848|290858|290860|290861|290862|290866|290867|291017|291018|291027|291028|291031|291032|291038|291041|291042|291057|291058|291060|291069|291071|291072|291073|291089|291091|291108|291110|291111|291114|620096|697687|885487|885488|885489|885490|885491|885492|885493|885494|885495|885496|885497|885498|885499|885500|885501|885502|885503|885504|885505|885506|885507|885508|885509|885510|885511|885512|885513|885514|885515|885516|885517|885518|885519|885520|885521|885522|885523|885524|885525|885526|885527|885528|885529|885530|885531|885532|885533|885534|885535|885536|885537|885538|885539|885540|885541|885542|885543|885544|885545|885546|885547|885548|885549|885550|885551|885552|885553|885554|885555|885556|885557|885558|885559|885560|885561|885562|885563|885564|885565|885566|885567|885568|887404|887405|887406|980316|980317", + "text": "Vitamin K-dependent clotting factors, combined deficiency of, 1" + }, + { + "baseId": "31235|31238|31239|31240|31241|31242|31243|31244|31245|983672|983674", + "text": "Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency" + }, + { + "baseId": "31246|31247|31247|31248|31249|31250|75270|99340|99341|99341|134572|134573|134573|134574|134575|141120|141124|141130|141132|177736|194858|201870|201876|201880|201881|201883|201884|201891|201892|201895|201896|201897|201898|201901|212514|239783|239784|266793|274648|298665|303103|368346|369732|394173|394844|394915|394920|395098|395103|395437|395439|406691|443745|453622|454805|455394|455395|455397|455659|486743|521227|521485|521493|521495|536690|560253|560255|560364|560366|563018|563022|565001|579117|614284|633701|633702|633703|633704|633705|633706|633707|633708|633709|633710|633711|633712|633713|661224|683728|685184|686717|686718|686720|689792|691815|782240|787275|793083|819569|819570|819571|819572|821913|830598|830599|830600|830601|830602|830603|830604|830605|830606|830607|830608|851276|851278|923982|923983|923984|923985|932825|932826|932827|932828|932829|932830|940812|940813|944523|944524|944525|944526|944527|944528|944529|959761", + "text": "Familial febrile seizures 8" + }, + { + "baseId": "31247|31247|31249|75270|99340|99341|99341|134572|134573|134573|134574|134574|134575|134575|141120|141120|141124|141124|141130|141130|141132|177736|194858|201870|201875|201876|201880|201881|201883|201884|201889|201891|201891|201892|201895|201896|201897|201898|201898|201901|212514|239783|239784|266793|274648|296772|296775|296788|296789|296791|296792|296793|296798|298646|298657|298665|298665|298668|298685|298686|298687|298702|298707|302892|302893|302894|302895|302898|302899|302900|302922|302923|302924|302925|302930|302931|302933|303093|303101|303102|303103|303103|303105|303112|303113|303117|303119|303120|303121|368346|368501|369732|394173|394844|394915|394920|395098|395103|395437|395439|406691|443745|453622|454805|455394|455395|455397|455659|521227|521485|521493|521495|536690|560253|560255|560364|560366|563018|563022|563022|565001|579117|579117|614284|633701|633702|633703|633704|633705|633706|633707|633708|633709|633710|633711|633712|633713|661224|683728|685184|686717|686718|686720|689792|691815|782240|787275|790534|793083|819569|819570|819571|819572|821913|830598|830599|830600|830601|830602|830603|830604|830605|830606|830607|830608|851276|851278|893821|893822|893823|893824|893825|893826|893827|893828|893829|893830|893831|893832|893833|893834|893835|893836|893837|893838|923982|923983|923984|923985|932825|932826|932827|932828|932829|932830|940812|940813|944523|944523|944524|944525|944526|944527|944528|944529|959761", + "text": "Epilepsy, childhood absence 2" + }, + { + "baseId": "31251|31252", + "text": "Generalized epilepsy with febrile seizures plus type 5" + }, + { + "baseId": "31252", + "text": "Epilepsy, juvenile myoclonic 7" + }, + { + "baseId": "31252|440430|447685|583078|918590|969599|970672", + "text": "Epilepsy, idiopathic generalized 10" + }, + { + "baseId": "31253|99338|99339|99339|132585|132585|132687|132688|134569|134570|134571|134571|141110|141111|141112|141113|141113|141114|141115|141115|141116|141117|141117|141118|141119|141119|193450|194328|195911|201852|201853|201860|201860|201861|201862|259817|259818|259819|296741|296742|296743|296745|296746|296748|296749|296754|296756|296757|296758|296763|296765|296769|298611|298619|298625|298626|298629|298631|298635|298638|298644|302793|302794|302797|302800|302801|302838|302847|302848|302875|302884|302888|302891|303037|303050|303051|303065|303083|303085|303086|303087|359664|368035|368330|369730|406687|454795|454797|454898|454906|454911|454916|454921|454923|455387|455392|488955|520982|521214|521221|521404|560360|560362|563011|563015|563016|565000|576799|579039|579119|614283|633696|633697|633698|633699|633700|685183|685183|686713|686715|749397|765001|782239|819641|821909|821910|821911|821912|830594|830595|830596|830597|851896|852198|893780|893781|893782|893783|893784|893785|893786|893787|893788|893789|893790|893791|893792|893793|893794|893795|893796|893797|893798|893799|893800|893801|893802|893803|893804|893805|893806|893807|893808|893809|893810|893811|893812|893813|893814|893815|893816|893817|893818|893819|893820|896074|896075|923975|923976|923977|923978|923979|923980|923981|932820|932821|932822|932823|932824|944517|944518|944519|944520|944521|944522|954105|960559", + "text": "Epilepsy, juvenile myoclonic 5" + }, + { + "baseId": "31254|99339|132585|134571|141112|141113|141114|141115|141116|141117|141118|141119|193450|194328|195911|201852|201853|201860|201861|201862|259817|259818|259819|359664|368035|368330|369730|406687|454795|454797|454898|454906|454911|454916|454921|454923|455387|455392|488955|520982|521214|521221|521404|560360|560362|563011|563015|563016|565000|576799|579039|579119|633696|633697|633698|633699|633700|685183|686713|686715|749397|765001|782239|819641|821909|821910|821911|821912|830594|830595|830596|830597|851896|852198|923975|923976|923977|923978|923979|923980|923981|932820|932821|932822|932823|932824|944517|944518|944519|944520|944521|944522|954105|960559", + "text": "Epilepsy, childhood absence 4" + }, + { + "baseId": "31255|31256|171753|171754|171755|171756|191080|191082|191586|237078|237330|265698|266035|267762|326537|326538|326544|326546|326548|326555|326558|326559|326560|326568|326569|326573|326577|326581|326585|326593|326595|326596|326598|326601|326602|326603|326610|336367|336370|336375|336377|336381|336385|336387|336390|336396|336397|336401|336407|336409|336410|336411|336415|336417|342564|342566|342571|342573|342574|342576|342578|342580|342581|342584|342593|342596|342597|342600|342606|342608|342615|342616|342617|342621|342626|342635|342636|342637|342640|342643|342644|342648|342650|342651|342652|342653|342657|344186|344189|344195|344196|344198|344199|344210|344211|344217|344220|344225|344226|344230|344232|344235|344242|344243|344245|344255|344256|344259|344264|344265|344269|375542|432013|432014|432015|432017|434652|466090|466091|466093|466837|466840|466864|466865|466867|466879|467148|467149|492003|530370|530373|530473|530477|530479|530669|530882|530886|530895|530904|530905|530906|568444|568446|570579|570582|570602|570606|570610|574196|577572|585209|623086|623087|623088|623089|645084|645085|645086|645087|645088|645089|645090|645091|645092|645093|645094|645095|645096|652870|652874|715154|726868|740418|740434|776209|820891|820893|820894|820895|844442|844443|844444|844445|844446|844447|844448|844449|844450|844451|852131|876072|876073|876074|876075|876076|876077|876078|876079|876080|876081|876082|876083|876084|876085|876086|876087|876088|876089|876090|876091|876092|876093|876094|876095|876096|876097|876098|876099|876100|876101|876102|876103|876104|876105|876106|876107|876108|876109|876110|876111|876112|876113|876114|876115|876728|876729|876730|927990|927991|927992|927993|927994|937652|940375|941150|949621|957906", + "text": "Gamma-aminobutyric acid transaminase deficiency" + }, + { + "baseId": "31257|31258|31259", + "text": "Alcoholism, susceptibility to" + }, + { + "baseId": "31260", + "text": "Amyotrophic lateral sclerosis 6, autosomal recessive" + }, + { + "baseId": "31261|31261|31262|31263|31264|31265|31266|31267|38662|38663|45745|255698|255699|255699|255700|255700|255702|255705|255705|264787|325119|325121|325121|325125|325126|325127|325127|325133|325136|325144|325145|325147|325148|325149|325153|325154|325158|334778|334784|334786|334787|334788|334816|334820|334827|334828|334834|334836|334839|334841|341258|341258|341259|341263|341264|341268|341269|341272|341273|341274|341284|341286|341289|341292|341293|341301|341306|341311|341316|341318|341320|341321|341324|342763|342765|342767|342769|342775|342778|342789|342790|342791|342793|342794|342799|342804|342805|342809|342810|342813|360997|422093|438008|438008|441901|441901|441904|441905|486142|495622|529932|529932|530247|530247|530252|530252|530443|530443|530447|530449|568102|570256|570258|574045|644615|644616|644617|644618|644619|644620|644621|644622|644623|693845|693847|693848|693848|693849|693850|703659|740157|770875|778292|791586|791587|793636|820825|843771|843772|843773|843774|843775|843775|843776|851669|861409|861410|861411|861412|861452|875120|875121|875122|875123|875124|875125|875126|875126|875127|875127|875128|875129|875130|875131|875132|875133|875134|875135|875136|875137|875138|875139|875140|875141|875142|875143|875144|875145|875146|875147|875148|875149|875150|875151|875152|875153|875154|875155|875156|875157|875158|875159|875160|875161|875162|875163|875164|875165|875166|875167|875168|875169|875170|876654|876655|876656|876657|876658|876659|921528|927785|937417|949376|957738|957739|977364", + "text": "Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia" + }, + { + "baseId": "31261|31266|45745|45745|45746|255699|255700|255705|264787|325121|325125|325127|341258|438008|441901|441904|486142|495622|529932|530247|530252|530443|530447|530449|568102|570256|570258|574045|644615|644616|644617|644618|644619|644620|644621|644622|644623|693845|693847|693848|693849|693850|703659|740157|770875|778292|793636|820825|843771|843772|843773|843774|843775|843776|851669|875126|875127|927785|937417|949376|957738|957739", + "text": "Tremor, hereditary essential, 4" + }, + { + "baseId": "31268|790903", + "text": "B4GALT1-CDG" + }, + { + "baseId": "31269|31270|31271|31274|31275|38660|38661|50021|50022|50023|50024|51260|51261|98356|98360|98361|98362|98364|98365|98366|98367|98367|138152|138154|138155|138156|138157|141073|141074|141075|141076|151069|151752|151776|151789|151789|151791|152368|177192|177706|181629|181630|181631|181633|181634|181636|181637|181638|181639|181640|181641|181642|181643|195206|195552|204603|204604|210648|210650|210651|210652|210654|210657|210658|210663|210669|210670|210671|210673|210674|210676|210678|210680|210681|210682|210685|210687|210693|210694|210695|210696|210697|210699|210700|210701|210704|210706|210708|210709|210710|210711|210712|232189|232190|232194|232195|232197|232199|238253|238254|238255|238256|238257|238258|238259|238260|238261|238262|238263|238263|238264|259660|259661|259662|259663|259664|259665|264011|280141|280156|280159|280161|280165|280166|280167|280504|280508|280509|280521|280522|280523|281814|281817|281818|281821|281822|281825|281943|281944|281945|281954|359309|364940|380447|380450|380451|380452|380453|380454|380455|380458|380462|380463|380464|380469|380471|390724|390727|391074|391084|391095|391096|391098|391099|391101|391103|391104|391105|391106|391108|391110|391111|391113|391116|391117|391119|391121|391128|391130|391134|391136|391137|391139|391141|391146|391147|391156|391158|391162|391164|391171|391174|391181|391185|391198|391200|391202|391231|391254|391257|391266|391269|391279|391287|391296|405120|405122|405123|405126|421002|421003|421005|421006|421007|421009|421010|421011|421016|421019|421021|421023|425354|446926|446934|447673|447678|447679|447684|447693|447700|447702|447706|447707|447708|447713|447716|447718|447900|447913|447916|447919|447922|447926|447928|447932|447938|447942|448005|448006|448014|448015|448017|448018|448021|448023|448026|448029|448031|448032|448033|448034|448035|448036|448046|448052|448055|448056|448056|448059|448061|448063|448064|448066|472286|472289|472291|472292|472293|472296|472301|472304|472305|472308|472311|472313|472314|472316|472319|472321|472349|472375|498358|498548|515717|515718|515721|515722|515723|515726|515729|515731|515732|515738|515739|515743|515748|515754|515756|515761|515763|515766|515771|515773|515798|515801|515807|515808|515810|515812|515824|515826|515829|515831|515835|515837|515841|515843|515844|556499|556527|556529|556918|556920|556922|556924|556926|556928|556930|556932|556934|556936|556938|557210|557212|557214|557216|557218|557220|557222|557224|557226|557228|557230|557257|557259|557261|557263|557265|557267|557269|557271|557273|557275|558433|558435|558437|558439|558441|558443|558445|558447|558449|558451|558453|558455|627628|627629|627630|627631|627632|627633|627634|627635|627636|627637|627638|627639|627640|627641|627642|627643|627644|627645|627646|627647|627648|627649|627650|627651|627652|627653|627654|627655|627656|627657|627658|627659|627660|627661|627662|627663|627664|627665|627666|627667|627668|627669|627670|627671|627672|627673|627674|627675|627676|627677|627678|627679|627680|627681|627682|627683|627684|650559|650573|650578|650645|650704|650709|655085|685092|685673|685674|685675|685677|685678|685679|689651|689652|690561|690563|695041|718841|718842|732317|746358|758902|761811|761813|761815|761819|774484|774492|774506|794642|806531|806533|806534|806539|806541|806549|806550|806554|806555|806558|806565|806567|806568|806570|806579|806583|806585|806587|806589|806593|815218|818818|818819|818820|818949|818950|818951|818952|818953|818954|818955|823767|823768|823769|823770|823771|823772|823773|823774|823775|823776|823777|823778|823779|823780|823781|823782|823783|823784|823785|823786|823787|823788|823789|823790|823791|823792|823793|823794|823795|823796|823797|823798|823799|823800|823801|823802|823803|823804|850770|850772|850774|850776|855105|864177|864178|864179|865167|918624|921943|921944|921945|921946|921947|921948|921949|921950|921951|921952|921953|921954|921955|921956|921957|921958|930421|930422|930423|930424|930425|930426|930427|930428|930429|930430|930431|930432|930433|939803|939804|939805|939806|940627|940628|941867|941868|941869|941870|941871|941872|941873|941874|941875|941876|941877|941878|941879|941880|941881|941882|941883|941884|941885|941886|941887|952359|952360|952361|952362|952363|959552|959553|959554|977531|977532", + "text": "Fumarase deficiency" + }, + { + "baseId": "31271|31273|31274|31275|31276|31277|38660|50021|50024|98356|98357|98360|98361|98364|98365|98367|98367|138152|138154|141073|141074|141075|141076|151752|151789|152368|177061|177192|181638|181639|181641|181642|195206|195552|204603|204604|210649|210651|210663|210670|210671|210673|210677|210685|210696|210701|210706|210707|210711|210712|238253|238255|238258|238262|238263|259659|263987|280141|280156|280159|280161|280165|280166|280167|280504|280508|280509|280521|280522|280523|281814|281817|281818|281821|281822|281825|281943|281944|281945|281954|380447|380448|380449|380450|380451|380452|380453|380454|380455|380456|380457|380458|380459|380460|380461|380462|380463|380464|380465|380466|380467|380468|380469|380470|380471|380472|380473|391106|391171|447679|447916|448056|513996|627663|677031|806555|815966|864177|864178|864179|865167|921452", + "text": "Hereditary leiomyomatosis and renal cell cancer" + }, + { + "baseId": "31278|227409|967235|967236|967237", + "text": "Fucosyltransferase 6 deficiency" + }, + { + "baseId": "31279|31280|31281|187217|254134|313835|313839|313840|313853|313854|320035|320036|326220|327162|327163|327165|327173|327174|327183|327188|327189|362186|867813|867814|867815|867816|867817|867818|867819", + "text": "Hypogonadotropic hypogonadism 24 without anosmia" + }, + { + "baseId": "31282|31283|31284|31285|31286|31287|31290|38659|70669|70670|70671|70672|70673|141106|250748|286704|286713|286715|287414|287431|287432|287433|287434|289861|289862|289864|290218|290222|290227|290234|290235|290241|290250|586941|763346|885146|885147|885148|885149|885150|885151|885152|885153|885154|885155|885156|885157|885158|885159|885160|885161|885162|885163|885164|885165|885166|885167|885168|885169|885170|983728|983729", + "text": "Ovarian dysgenesis 1" + }, + { + "baseId": "31283|31285|31286|31288|31289|31291|31292|31293|141106|250748|286704|286713|286715|286718|287414|287430|287431|287432|287433|287434|289861|289862|289863|289864|290218|290222|290227|290234|290235|290241|290250|353573|586941|763346|885146|885147|885148|885149|885150|885151|885152|885153|885154|885155|885156|885157|885158|885159|885160|885161|885162|885163|885164|885165|885166|885167|885168|885169|885170", + "text": "Ovarian hyperstimulation syndrome" + }, + { + "baseId": "31285", + "text": "Ovarian response to FSH stimulation" + }, + { + "baseId": "31294|31295|31296|45590|101647|141090|177716|192477|193636|193637|194991|194992|202609|202610|202614|202615|202618|315126|315127|321930|328012|329212|329241|372428|372430|372433|372436|372677|408467|421888|444885|461451|461455|461458|461669|461671|461985|503782|526769|566170|567519|567520|567523|579755|640441|640442|640443|640444|640445|640446|640447|768748|768749|820435|838984|838985|838986|838987|852633|868780|868781|917748|926382|926383|935773|935774|935775|935776|947654", + "text": "Cerebral folate transport deficiency" + }, + { + "baseId": "31298|31299|31300|31301|31302|31304|31305|31306|31307|31308|679746|918951|918952|918953", + "text": "Hereditary lymphedema type I" + }, + { + "baseId": "31309", + "text": "Leukemia, acute myeloid, reduced survival in, somatic" + }, + { + "baseId": "31318|31321|31330|31332|31333|31335|31337|31340|31341|31342|136393|136394|136395|136396|178334|181583|191949|191949|192053|192053|193672|193672|193673|193674|193674|236849|305196|305197|305206|305210|305211|305213|305216|305216|305217|305227|305229|308949|308950|308954|308955|308965|308966|308967|308968|308969|308987|308988|308989|308989|308990|308991|308992|308993|308993|308994|308994|308995|309017|309019|309020|314169|314172|314173|314175|314176|314177|314180|314181|314182|314183|314185|314186|314189|314193|314194|314195|314196|314199|314200|314200|314201|314204|314205|314206|314207|314209|314210|314213|314213|314217|314217|314219|314220|314222|314223|314228|314231|314237|314238|370233|371850|371850|384419|425792|425793|425793|428839|458465|458466|458898|458901|472259|493549|513216|513216|523562|523565|523567|523886|524155|539141|539142|562414|562416|577061|637202|651969|679003|679934|679935|684009|687284|687287|687290|689918|689920|819961|834738|834739|851694|899458|899459|899460|899461|899462|899463|899464|899465|899466|899467|899468|899469|899470|899471|899472|899473|899474|899475|899476|899477|899478|899479|899480|899481|899482|899483|899484|899485|899486|899487|899488|899489|899490|899491|899492|899493|899494|899495|899496|899497|899498|899499|899500|899501|899502|899503|899504|899505|899506|899507|899508|899509|899510|899511|899512|900485|900486|900487|925198|925199|925200|934303|934304|946062|946063|962716|963106|963107|963108|963109|963110|963111|963112|963113", + "text": "Hypogonadotropic hypogonadism 2 with or without anosmia" + }, + { + "baseId": "31319|31320|31322|31323|31324|31334|31335|31336|31338|31339|59835|59836|59837|59838", + "text": "Hypogonadotropic hypogonadism 2 with anosmia" + }, + { + "baseId": "31321|31332|59853|178327|178328|178330|178331|178332|178335|178336|178337|178338|178339|178340|178341|178343|263372", + "text": "Delayed puberty" + }, + { + "baseId": "31325|31326|31327|31329|191949|192053|193672|193674|305196|305197|305206|305210|305211|305213|305216|305217|305227|305229|308949|308950|308951|308954|308955|308965|308966|308967|308968|308969|308987|308988|308989|308990|308991|308992|308993|308994|308995|309017|309019|309020|314169|314172|314173|314175|314176|314177|314180|314181|314182|314183|314185|314186|314189|314193|314194|314195|314196|314199|314200|314201|314204|314205|314206|314207|314209|314210|314213|314217|314219|314220|314222|314223|314228|314231|314237|314238|370233|371850|513216|523886|577061|623634|687284|687287|689918|790799|899458|899459|899460|899461|899462|899463|899464|899465|899466|899467|899468|899469|899470|899471|899472|899473|899474|899475|899476|899477|899478|899479|899480|899481|899482|899483|899484|899485|899486|899487|899488|899489|899490|899491|899492|899493|899494|899495|899496|899497|899498|899499|899500|899501|899502|899503|899504|899505|899506|899507|899508|899509|899510|899511|899512|900485|900486|900487", + "text": "Osteoglophonic dysplasia" + }, + { + "baseId": "31328|191949|192053|193672|193674|305196|305197|305206|305210|305211|305213|305216|305217|305227|305229|308949|308950|308954|308955|308965|308966|308967|308968|308969|308987|308988|308989|308990|308991|308992|308993|308994|308995|309017|309019|309020|314169|314172|314173|314175|314176|314177|314180|314181|314182|314183|314185|314186|314189|314193|314194|314195|314196|314199|314200|314201|314204|314205|314206|314207|314209|314210|314213|314217|314219|314220|314222|314223|314228|314231|314237|314238|370233|371850|513216|523886|577061|687284|687287|689918|899458|899459|899460|899461|899462|899463|899464|899465|899466|899467|899468|899469|899470|899471|899472|899473|899474|899475|899476|899477|899478|899479|899480|899481|899482|899483|899484|899485|899486|899487|899488|899489|899490|899491|899492|899493|899494|899495|899496|899497|899498|899499|899500|899501|899502|899503|899504|899505|899506|899507|899508|899509|899510|899511|899512|900485|900486|900487", + "text": "Trigonocephaly 1" + }, + { + "baseId": "31343|31344|31345|31346|31347|31348|31350|31351|31352|31353|31354|31355|31356|31357|34316|38476|227205|227206|249537|249538|249541|249542|249543|249544|249547|277401|277402|277403|277592|277598|277600|277608|278457|278458|278462|278464|278466|278467|278468|278469|278470|278486|553150|553151|619969|619970|718385|862785|862786|862787|862788|862789|862790|862791|862792|862793|862794|862795|862796|862797|862798|862799|862800|862801|862802|865034|865035|865036", + "text": "Trimethylaminuria" + }, + { + "baseId": "31349", + "text": "FMO3 activity, decreased" + }, + { + "baseId": "31358|31358|31358|31359|31359|31360|65592|65594|65594|132362|205128|227198|227199|227200|227201|259625|259629|259630|263950|263963|361156|404743|404918|438932|513891|514416|538328|578363|626093|682425|918558|970659", + "text": "Ichthyosis vulgaris" + }, + { + "baseId": "31358|31359|31360|404918", + "text": "Dermatitis, atopic, 2, susceptibility to" + }, + { + "baseId": "31358|31358|31359|31359|65592|65594|65594|259630|438932|513491|514416|538328", + "text": "Dermatitis, atopic, 2" + }, + { + "baseId": "31358|360928|514093|514094", + "text": "Dermatitis, atopic" + }, + { + "baseId": "31358|31359|263393", + "text": "Eczema" + }, + { + "baseId": "31358|259630|263950", + "text": "FLG-related disorders" + }, + { + "baseId": "31359", + "text": "FLG-Related Disorder" + }, + { + "baseId": "31362|31363|31364|190044|190045|190046|576097|733142|804845|818182|965213|975946", + "text": "Glomerulopathy with fibronectin deposits 2" + }, + { + "baseId": "31365", + "text": "Cancer progression and tumor cell motility" + }, + { + "baseId": "31366|31367|31369|31376|31395|576111|964230", + "text": "Achondroplasia" + }, + { + "baseId": "31367|31376|31377|31379|31383|31384|31385|31386|31387|31388|31395|31396|31397|76434|76435|76731|76734|76737|76763|76788|76808|76809|76823|76824|138143|138148|576111|790461|964231|970790", + "text": "Hypochondroplasia" + }, + { + "baseId": "31368|361702|576111", + "text": "Crouzon syndrome with acanthosis nigricans" + }, + { + "baseId": "31370|966849", + "text": "Thanatophoric dysplasia, type 2" + }, + { + "baseId": "31371|31372|31373|31374|31375|31378|31380|31381|31398|76469|76470|76471|76472|621895|966849", + "text": "Thanatophoric dysplasia type 1" + }, + { + "baseId": "31371", + "text": "Skeletal dysplasia with acanthosis nigricans" + }, + { + "baseId": "31379|964111", + "text": "Muenke syndrome" + }, + { + "baseId": "31380", + "text": "SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS" + }, + { + "baseId": "31387|363578", + "text": "Acanthosis nigricans" + }, + { + "baseId": "31394|166328|576111|615789", + "text": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome" + }, + { + "baseId": "31400", + "text": "FIBRINOGEN TOKYO 2" + }, + { + "baseId": "31400|31401|31415|31417|31421|31430|31435|31441|31443|31454|496315|615377|615379|615380|615381|615382|615383|615384|615385|615386|615387|615388|615389", + "text": "Hypofibrinogenemia" + }, + { + "baseId": "31401", + "text": "FIBRINOGEN HAIFA 1" + }, + { + "baseId": "31402", + "text": "FIBRINOGEN BALTIMORE 1" + }, + { + "baseId": "31403", + "text": "FIBRINOGEN KYOTO 1" + }, + { + "baseId": "31404", + "text": "FIBRINOGEN BALTIMORE 3" + }, + { + "baseId": "31405", + "text": "FIBRINOGEN ASAHI" + }, + { + "baseId": "31406", + "text": "FIBRINOGEN VLISSINGEN 1" + }, + { + "baseId": "31407", + "text": "FIBRINOGEN NAGOYA 1" + }, + { + "baseId": "31408", + "text": "FIBRINOGEN KYOTO 3" + }, + { + "baseId": "31409", + "text": "FIBRINOGEN MILANO 1" + }, + { + "baseId": "31410", + "text": "FIBRINOGEN PARIS 1" + }, + { + "baseId": "31411", + "text": "FIBRINOGEN OSLO III" + }, + { + "baseId": "31412", + "text": "FIBRINOGEN OSAKA 5" + }, + { + "baseId": "31413", + "text": "FIBRINOGEN MATSUMOTO 1" + }, + { + "baseId": "31414", + "text": "FIBRINOGEN GIESSEN 4" + }, + { + "baseId": "31415|31416|31417|31419|31423|31428|31429|31431|31432|31434|31435|31453|31454|31456|31459|237254|251340|251341|251343|251344|251345|292471|292473|292477|292478|292487|292488|292493|292501|292502|292505|292506|292513|292514|292527|293902|293903|293904|293905|293907|293913|293914|293924|293930|293931|293932|293933|293934|293935|293939|293943|297187|297196|297197|297200|297216|297220|297221|297222|297223|297229|297230|297241|297245|297256|297269|297281|297288|297290|297292|297293|297297|297299|297300|297303|297304|297305|297307|297313|297314|297315|297321|297334|297337|297349|297350|297353|297369|297371|297374|297375|353667|389197|496315|496316|538367|615375|615393|683623|709203|709204|779010|789171|789245|789247|795545|890231|890232|890233|890234|890235|890236|890237|890238|890239|890240|890241|890242|890243|890244|890245|890246|890247|890248|890249|890250|890251|890252|890253|890254|890255|890256|890257|890258|890259|890260|890261|890262|890263|890264|890265|890266|890267|890268|890269|890270|890271|890272|890273|890274|890275|890276|890277|891753|891754", + "text": "Afibrinogenemia, congenital" + }, + { + "baseId": "31417", + "text": "Fibrinogen Milano XII, digenic" + }, + { + "baseId": "31418", + "text": "FIBRINOGEN HILLSBOROUGH" + }, + { + "baseId": "31420", + "text": "FIBRINOGEN NEW YORK 1" + }, + { + "baseId": "31421", + "text": "FIBRINOGEN CHRISTCHURCH 2" + }, + { + "baseId": "31422", + "text": "FIBRINOGEN PONTOISE 2" + }, + { + "baseId": "31423", + "text": "FIBRINOGEN BALTIMORE 2" + }, + { + "baseId": "31424", + "text": "FIBRINOGEN ISE" + }, + { + "baseId": "31425", + "text": "FIBRINOGEN NIJMEGEN" + }, + { + "baseId": "31426", + "text": "FIBRINOGEN NAPLES" + }, + { + "baseId": "31427", + "text": "FIBRINOGEN-BETA POLYMORPHISM" + }, + { + "baseId": "31430", + "text": "FIBRINOGEN LONGMONT" + }, + { + "baseId": "31433", + "text": "FIBRINOGEN, BETA-148 POLYMORPHISM" + }, + { + "baseId": "31436", + "text": "FIBRINOGEN LILLE 1" + }, + { + "baseId": "31437", + "text": "FIBRINOGEN ROUEN 1" + }, + { + "baseId": "31438|31443", + "text": "Dysfibrinogenemia" + }, + { + "baseId": "31439", + "text": "FIBRINOGEN MUNICH 1" + }, + { + "baseId": "31440", + "text": "FIBRINOGEN DETROIT 1" + }, + { + "baseId": "31441", + "text": "FIBRINOGEN AARHUS 1" + }, + { + "baseId": "31442", + "text": "FIBRINOGEN KYOTO 2" + }, + { + "baseId": "31444", + "text": "FIBRINOGEN CARACAS 2" + }, + { + "baseId": "31445", + "text": "FIBRINOGEN LIMA" + }, + { + "baseId": "31446", + "text": "FIBRINOGEN MARBURG" + }, + { + "baseId": "31450", + "text": "FIBRINOGEN DUSART" + }, + { + "baseId": "31451", + "text": "FIBRINOGEN CANTERBURY" + }, + { + "baseId": "31454", + "text": "Hypodysfibrinogenemia, congenital" + }, + { + "baseId": "31455", + "text": "FIBRINOGEN NIEUWEGEIN" + }, + { + "baseId": "31457", + "text": "FIBRINOGEN KEOKUK" + }, + { + "baseId": "31460", + "text": "Marfan syndrome, severe classic" + }, + { + "baseId": "31461", + "text": "Marfan syndrome, mild variable" + }, + { + "baseId": "31473|31490|31490|51537|51554|141005|165544|197665|258816|322740|322743|322762|322768|322772|322773|322810|332236|332237|332249|332259|332260|332264|332268|332271|332279|332280|339214|339221|339222|339224|339237|339240|339263|339264|339285|339295|339296|340691|340697|340712|340719|340723|340726|340746|551267|609340|672165", + "text": "MASS syndrome" + }, + { + "baseId": "31476|31484|31490|31500|44705|44724|44729|44731|44735|44736|44748|44750|44767|44768|44772|44792|44796|44797|48266|51457|51467|51468|51489|51490|51500|51504|51505|51507|51525|51526|51551|51562|51578|51582|51583|51603|51609|132464|141002|141003|141004|141007|141008|141009|141012|141014|141016|141017|171173|171177|171181|175990|175991|197581|197615|197705|197717|197811|230585|242059|242072|242080|242082|255255|258836|258887|258909|265919|322730|322731|322733|322734|322736|322737|322739|322742|322749|322752|322760|322767|322769|322781|322782|322787|322788|322792|322793|322794|322796|322805|322811|332233|332238|332243|332247|332248|332251|332252|332254|332261|332263|332265|332267|332272|332278|332283|339217|339223|339232|339241|339243|339245|339250|339265|339266|339275|339276|339277|339280|339281|339286|339287|339297|339304|340694|340714|340715|340716|340718|340720|340728|340729|340732|340736|340738|340743|340744|340745|340748|374601|464856|464940|465086|465116|487788|505654|529291|538046|539060|573321|621494|643298|842447|873702|873703|873704|873705|873706|873707|873708|873709|873710|873711|873712|873713|873714|873715|873716|873717|873718|873719|873720|873721|873722|873723|873724|873725|873726|873727|873728|873729|873730|873731|873732|873733|873734|873735|873736|873737|873738|873739|873740|873741|873742|876533|876534|876535|876536|876537", + "text": "Ectopia lentis, isolated, autosomal dominant" + }, + { + "baseId": "31476|32289|38552|44582|44594|44705|44724|44767|44768|44772|45279|45281|45284|45520|47468|51468|51508|55721|99654|99656|99662|99670|134506|134509|134511|134512|138649|138650|138658|138660|138671|138674|138676|138681|138690|138698|140557|140588|140590|140595|140601|140612|140640|140645|140646|140649|140653|140660|140664|140666|140668|141017|141018|141019|141021|141022|141024|141028|141030|141036|141041|141042|141044|141057|141058|141061|141062|141063|142038|142047|142051|142052|142060|142065|142076|165529|165530|165548|165580|171073|171075|171083|171181|171185|171281|174368|174497|174500|174506|177627|177628|177632|177710|178594|178596|178706|178711|188023|190915|191359|191890|192900|193008|193272|193589|193768|194227|194230|194638|194657|195081|195150|195180|195521|196760|196761|196770|196815|197695|197832|197837|197847|197869|197879|197893|197910|197914|197926|207158|207161|207163|209426|209434|209493|209500|209517|209518|209541|209562|209628|209718|209741|209754|209778|209786|209793|209799|209809|209826|209962|209971|209978|209992|209995|210001|210006|210051|210070|210078|210088|210100|210264|210462|210463|210478|210483|210490|210493|210530|210531|210540|215539|221811|228990|229466|229471|237388|239091|240519|240544|240554|240555|240563|240564|240578|240818|242203|243770|247081|247111|249283|249302|250440|250459|250865|251662|254528|254556|258257|258260|258274|258401|258567|258573|258578|258584|258594|259150|268275|268446|269195|269223|271988|273965|275701|275709|275721|288371|288372|292143|303634|307066|307071|307100|307211|311998|317169|317277|325004|325018|329145|331136|332776|333993|361858|364283|364310|364321|366013|366221|366257|366717|367154|368142|369128|369301|370197|370258|370271|370735|371102|371111|372534|372808|373447|373591|375313|377081|378450|379193|393266|393441|396673|396794|396810|397018|397316|397325|397329|397392|401009|401033|406105|407274|409453|415046|425770|425839|430726|433866|433867|437853|444183|445497|450099|450316|450429|451787|451801|455041|457591|457725|459312|459372|459786|459836|459868|465968|486698|486699|493909|497937|501643|501953|502344|502460|502469|502484|503639|503845|503882|505389|506513|510052|510101|510913|518850|519034|521044|524413|524747|525666|529291|535107|537668|537669|537670|537671|537672|537673|537674|537675|537676|537677|537678|537680|537685|537699|537704|537707|537708|537709|537738|537739|537740|537741|537742|537743|537744|537745|537746|537747|537748|537749|537762|537763|537764|537765|537766|537767|537769|537772|537773|537774|537804|537805|537806|537807|537808|537809|537810|537811|537812|537813|537814|537815|537816|537818|537819|537821|537822|537823|537824|537825|537826|537827|537828|537844|537845|537847|537848|537849|537850|537851|537852|537853|537855|537856|537857|537858|537859|537860|537861|537862|537863|537870|537871|537872|537880|537882|537885|537888|537889|537891|537895|537896|537897|537898|538018|538036|538072|538074|538082|538083|538086|538088|538089|538090|538091|538092|538093|538094|538240|538241|538242|538244|538245|538246|538247|538248|538291|538292|538293|538294|538295|538296|538297|538298|538299|552410|552411|552412|552413|552414|552415|552416|552417|552418|552419|552420|552421|552422|552423|552424|552425|552426|552427|552428|552429|552430|552431|552432|552433|552434|552435|552436|552437|552438|552439|552440|552441|552442|552443|552444|552445|552446|552447|552448|552449|552450|552451|552452|552454|552455|552456|552457|552458|552459|552460|552462|552463|552464|552465|552466|552467|552468|552469|552470|552471|552472|552473|552474", + "text": "Connective tissue disease" + }, + { + "baseId": "31477|31480|31481|31485|31486|31496|31501|31504", + "text": "Marfan syndrome, neonatal" + }, + { + "baseId": "31479|31492|32289", + "text": "Marfan syndrome, atypical" + }, + { + "baseId": "31479|361136", + "text": "Arachnodactyly" + }, + { + "baseId": "31479|360977", + "text": "Lens subluxation" + }, + { + "baseId": "31479|514051", + "text": "High palate" + }, + { + "baseId": "31482", + "text": "Marfan syndrome, mild" + }, + { + "baseId": "31484|31490|38651|38653|38655|38656|38657|44705|44724|44729|44731|44735|44736|44748|44750|44767|44768|44772|44792|44796|44797|51457|51467|51468|51489|51490|51500|51504|51505|51507|51525|51526|51537|51551|51554|51562|51578|51582|51583|51603|51609|141002|141003|141004|141005|141007|141008|141009|141012|141014|141016|141017|165544|171173|171177|171181|175984|175990|175991|197581|197615|197624|197665|197705|197717|197753|197811|230585|242059|242072|242080|242082|255255|258816|258836|258887|258909|265919|322730|322731|322733|322734|322736|322737|322739|322740|322742|322743|322749|322752|322760|322762|322767|322768|322769|322772|322773|322781|322782|322787|322788|322792|322793|322794|322796|322805|322810|322811|332233|332236|332237|332238|332243|332247|332248|332249|332251|332252|332254|332259|332260|332261|332263|332264|332265|332267|332268|332271|332272|332278|332279|332280|332283|339214|339217|339221|339222|339223|339224|339232|339237|339240|339241|339243|339245|339250|339263|339264|339265|339266|339275|339276|339277|339280|339281|339285|339286|339287|339295|339296|339297|339304|340691|340694|340697|340712|340714|340715|340716|340718|340719|340720|340723|340726|340728|340729|340732|340736|340738|340743|340744|340745|340746|340748|374601|464856|464940|465086|465116|487788|505654|529291|538046|539060|573321|621494|643298|842447|873702|873703|873704|873705|873706|873707|873708|873709|873710|873711|873712|873713|873714|873715|873716|873717|873718|873719|873720|873721|873722|873723|873724|873725|873726|873727|873728|873729|873730|873731|873732|873733|873734|873735|873736|873737|873738|873739|873740|873741|873742|876533|876534|876535|876536|876537", + "text": "Acromicric dysplasia" + }, + { + "baseId": "31484|31490|31490|44705|44724|44729|44731|44735|44736|44748|44750|44767|44772|44792|44796|44797|51457|51467|51468|51489|51490|51500|51504|51505|51507|51525|51526|51537|51551|51554|51562|51578|51582|51583|51603|51609|92363|132462|132464|132467|136585|141002|141003|141004|141005|141007|141008|141009|141012|141014|141016|141017|165544|171173|171177|171181|175984|175985|175990|175991|197581|197615|197665|197705|197717|197753|197811|230585|236903|242059|242072|242080|242082|255056|255057|255058|255059|255060|255255|258816|258836|258887|258909|265919|268435|321304|321305|321309|321311|321312|321313|321317|321319|321321|321323|321324|321327|321329|321332|321333|321334|321339|321340|321344|321346|322730|322731|322733|322734|322736|322737|322739|322740|322742|322743|322749|322752|322760|322762|322767|322768|322769|322772|322773|322781|322782|322787|322788|322792|322793|322794|322796|322805|322810|322811|330514|330515|330516|330526|330527|330533|330536|330537|330539|330540|330541|330543|330544|330546|330558|330570|330573|330576|330579|330580|332233|332236|332237|332238|332243|332247|332248|332249|332251|332252|332254|332259|332260|332261|332263|332264|332265|332267|332268|332271|332272|332278|332279|332280|332283|334742|334743|334749|334750|334752|334753|334754|334756|337092|337108|337117|337127|337136|337139|337140|337149|337151|337157|337160|337165|337174|337176|337179|337190|337191|337197|337198|337201|337204|337205|337207|337212|339033|339035|339038|339039|339052|339056|339058|339059|339068|339072|339074|339075|339083|339089|339095|339099|339101|339108|339118|339121|339122|339133|339214|339217|339221|339222|339223|339224|339232|339237|339240|339241|339243|339245|339250|339263|339264|339265|339266|339275|339276|339277|339280|339281|339285|339286|339287|339295|339296|339297|339304|340691|340694|340697|340712|340714|340715|340716|340718|340719|340720|340723|340726|340728|340729|340732|340736|340738|340743|340744|340745|340746|340748|344555|344557|344568|344569|344573|344575|344583|344584|344587|344588|344591|344592|344594|344599|344600|344601|344604|344609|344611|349588|349590|349593|349594|349596|349601|349602|349605|349606|349609|349610|350596|350598|350600|350601|350604|350605|350607|350610|350613|350617|350618|350621|374601|464856|464940|465086|465116|480526|487788|505654|529291|538046|573321|586928|621494|643298|702982|702983|702985|702986|702988|714235|714236|714237|714238|716803|725801|725802|725805|725807|728530|728531|728533|728534|739312|739313|739319|739320|739328|742244|742247|744825|745291|754151|757366|757369|757371|757375|760114|780113|780206|784787|816325|842447|848194|872545|872546|872547|872548|872549|872550|872551|872552|872553|872554|872555|872556|872557|872558|872559|872560|872561|872562|872563|872564|872565|872566|872567|872568|872569|872570|872571|872572|872573|872574|872575|872576|872577|872578|872579|872580|872581|872582|872583|872584|872585|872586|872587|872588|872589|872590|872591|872592|872593|872594|872595|872596|872597|872598|872599|872601|872602|872603|872604|872605|872606|872607|872608|872609|872610|872611|872612|872613|872614|872615|872616|872617|872618|872619|872620|872621|872622|873702|873703|873704|873705|873706|873707|873708|873709|873710|873711|873712|873713|873714|873715|873716|873717|873718|873719|873720|873721|873722|873723|873724|873725|873726|873727|873728|873729|873730|873731|873732|873733|873734|873735|873736|873737|873738|873739|873740|873741|873742|876444|876445|876446|876447|876448|876533|876534|876535|876536|876537|882736|882737|882738|882739|882740|882741|882742|882743|882744|882745|882746|882747|882748|882749|882750|882751|882752|882753|882754|882755|882756|882757|882758|882759|882760|882761|882762|882763|882764|882765|882766|882767|882768|882769|882770|882771|882772|882773|882774|882775|882976|882977|882978|882979|882980|882981|882982|882983|882984|882985", + "text": "Weill-Marchesani syndrome" + }, + { + "baseId": "31484|31490|44705|44724|44729|44735|44736|44748|44750|44767|44768|44772|44792|44796|44797|51457|51467|51468|51489|51490|51500|51504|51505|51507|51525|51526|51537|51551|51554|51562|51578|51582|51583|51603|51609|141002|141003|141004|141005|141007|141008|141009|141012|141014|141016|141017|165544|171173|171181|175984|175990|175991|197581|197615|197665|197705|197717|197753|197811|230585|242059|242072|242080|242082|258816|258836|258887|258909|265919|307335|307356|311629|317555|322730|322731|322733|322734|322736|322737|322739|322740|322742|322743|322749|322752|322760|322762|322767|322768|322769|322772|322773|322781|322782|322787|322788|322792|322793|322794|322796|322805|322810|322811|332233|332236|332237|332238|332243|332247|332248|332249|332251|332252|332254|332259|332260|332261|332263|332264|332265|332267|332268|332271|332272|332278|332279|332280|332283|339214|339217|339221|339222|339223|339224|339232|339237|339240|339241|339243|339245|339250|339263|339264|339265|339266|339275|339276|339277|339280|339281|339285|339286|339287|339295|339296|339297|339304|340691|340694|340697|340712|340714|340715|340716|340718|340719|340720|340723|340726|340728|340729|340732|340736|340738|340743|340744|340745|340746|340748|374601|422029|464856|464940|465116|487788|505654|529291|873703|873715|873724|873739|873740|876534|876535", + "text": "Geleophysic dysplasia" + }, + { + "baseId": "31484|31490|31508|31509|31510|31511|44705|44724|44729|44731|44735|44736|44748|44750|44767|44772|44792|44796|44797|51457|51467|51468|51489|51490|51500|51504|51505|51507|51525|51526|51537|51541|51551|51554|51562|51578|51582|51583|51603|51609|141002|141003|141004|141005|141007|141008|141009|141012|141014|141016|141017|165544|171173|171177|171181|175984|175990|175991|197581|197615|197665|197705|197717|197753|197811|230585|242059|242072|242080|242082|255255|258816|258836|258887|258909|265919|322730|322731|322733|322734|322736|322737|322739|322740|322742|322743|322749|322752|322760|322762|322767|322768|322769|322772|322773|322781|322782|322787|322788|322792|322793|322794|322796|322805|322810|322811|332233|332236|332237|332238|332243|332247|332248|332249|332251|332252|332254|332259|332260|332261|332263|332264|332265|332267|332268|332271|332272|332278|332279|332280|332283|339214|339217|339221|339222|339223|339224|339232|339237|339240|339241|339243|339245|339250|339263|339264|339265|339266|339275|339276|339277|339280|339281|339285|339286|339287|339295|339296|339297|339304|340691|340694|340697|340712|340714|340715|340716|340718|340719|340720|340723|340726|340728|340729|340732|340736|340738|340743|340744|340745|340746|340748|374601|464856|464940|465086|465116|487788|505654|529291|538046|539060|573321|621494|643298|842447|873702|873703|873704|873705|873706|873707|873708|873709|873710|873711|873712|873713|873714|873715|873716|873717|873718|873719|873720|873721|873722|873723|873724|873725|873726|873727|873728|873729|873730|873731|873732|873733|873734|873735|873736|873737|873738|873739|873740|873741|873742|876533|876534|876535|876536|876537", + "text": "Stiff skin syndrome" + }, + { + "baseId": "31488|31491|31499|44703|44713|44740|44752|44771|44786|48266|51453|51470|51556|51564|51577|51590|51591|51599|175979|175982|176122|178699|197590|197619|197677|197685|197690|197710|197731|197742|197755|197765|197799|197808|197817|258830|258859|258876|260073|360269|400742|409254|409288|433143|485759|487563|487564|487570|487589|487590|487591|487610|487621|487628|487632|487659|487668|487683|487690|487701|487747|487772|487775|487781|487784|487786|487816|487832|487838|487853|487854|487865|487876|487880|487897|510611|529534|567146|568887|568912|573381|609927|621485|621486|621490|621492|621496|621505|621507|621509|621513|682108|842473|904060|917199|917202|917207|917536|920499|921481|921482|965855|969182|980189", + "text": "Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections" + }, + { + "baseId": "31490|178506|224192|224193|224245|224248|224373|224567", + "text": "Marfanoid habitus" + }, + { + "baseId": "31490|48154|51537|51554|141005|165544|175984|197665|258816|276361|276365|276376|276386|277082|322740|322743|322762|322768|322772|322773|322810|332236|332237|332249|332259|332260|332264|332268|332271|332279|332280|339214|339221|339222|339224|339237|339240|339263|339264|339285|339295|339296|340691|340697|340712|340719|340723|340726|340746|353061|360979", + "text": "Ectopia lentis" + }, + { + "baseId": "31490|44740|51466|51525|171178|197619|209598|258283|258907|262311|262312|262313|360231|362492|362493|362741|362742|433137|488133|488138|511551|609191|609192|609193|609194|609197|609198|609199|609200|609231|609232|609233|609234|609235|609236", + "text": "Familial thoracic aortic aneurysm" + }, + { + "baseId": "31498", + "text": "Weill-Marchesani syndrome 2" + }, + { + "baseId": "31505|44782", + "text": "Marfan syndrome, autosomal recessive" + }, + { + "baseId": "31513|31513|31514|31515|31517|31518|31519|31519|31520|31520|31521|31523|31524|48182|102584|166212|166213|169583|334001|334013|334015|334019|334021|343936|343948|343949|343954|349228|349228|349229|349230|349233|349234|350169|350171|350172|350174|350175|350178|353504|353506|353510|353514|413528|533633|575002|648220|648221|653468|852344|882260|882261|882262|882263|882264|882265|882266|882267|882268|882912|882913|929014|938760|950841|950842", + "text": "Hereditary hyperferritinemia with congenital cataracts" + }, + { + "baseId": "31513|31519|31520|31522|31525|31526|31527|31528|166212|166213|169583|334001|334013|334015|334019|334021|343936|343948|343949|343954|349228|349228|349229|349230|349233|349234|350169|350171|350172|350174|350175|350178|353504|353506|353510|353514|413528|533633|575002|648220|648221|653468|852344|882260|882261|882262|882263|882264|882265|882266|882267|882268|882912|882913|929014|938760|950841|950842", + "text": "Neuroferritinopathy" + }, + { + "baseId": "31529|314445|314447|321045|321046|321047|321053|321067|321070|327167|327195|327205|327211|328210|868180|868181|868182|868183|868184", + "text": "Hemochromatosis type 5" + }, + { + "baseId": "31530", + "text": "GLUTATHIONE S-TRANSFERASE PI POLYMORPHISM, TYPE A" + }, + { + "baseId": "31531", + "text": "GLUTATHIONE S-TRANSFERASE PI POLYMORPHISM, TYPE B" + }, + { + "baseId": "31532", + "text": "GLUTATHIONE S-TRANSFERASE PI POLYMORPHISM, TYPE C" + }, + { + "baseId": "31533", + "text": "FATTY ACID-BINDING PROTEIN, INTESTINAL, POLYMORPHISM OF" + }, + { + "baseId": "31534|538943", + "text": "Autoimmune lymphoproliferative syndrome, type 1b" + }, + { + "baseId": "31536|31537|31538|31539|31540|31541|31542|31543|31544|31545|31546|31547|31548|31552|31553|31554|31555", + "text": "Autoimmune lymphoproliferative syndrome, type 1a" + }, + { + "baseId": "31549|31550|31551", + "text": "SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC" + }, + { + "baseId": "31557|31558|31559|31560|31561|249586|249587|249588|278236|278241|278242|278244|278247|278248|278249|278254|278257|278258|278259|278265|278266|278272|278273|279281|279282|279283|279294|279297|279299|279326|279327|279445|706968|718479|718480|863151|863152|863153|863154|863155|863156|863157|863158|863159|863160|863161|863162|863163", + "text": "Factor XIII, b subunit, deficiency of" + }, + { + "baseId": "31562|31563|31564|31565|31566|31567|31568|31569|31570|31571|31572|31573|31574|31575|31576|31577|31578|31579|38649|38650|252445|252446|252447|252448|252450|300847|300849|300850|300857|300858|300862|300863|303782|303783|303784|303786|303789|303791|308355|308357|308358|308359|308361|308364|308376|308382|308383|308389|308400|308402|308403|308458|308462|308464|308465|308466|308467|308472|308473|552283|609016|615415|615416|615417|615418|710573|710574|722090|722092|896706|896707|896708|896709|896710|896711|896712|896713|896714|896715|896716|896717|896718|896719|896720|896721|896722|896723|896724|896725|896726|896727|896728|896729|900252|900253", + "text": "Factor XIII subunit A deficiency" + }, + { + "baseId": "31571", + "text": "Myocardial infarction, protection against" + }, + { + "baseId": "31571", + "text": "Venous thrombosis, protection against" + }, + { + "baseId": "31581|31584|31585|31587|31589|31591|31592|31597|31598|31602|33941|33942|34152|34153|224677|260773|273573|278176|278180|278182|278184|278185|278188|278191|278192|278193|278197|278199|278200|278201|278203|278204|278205|278206|278209|278210|278211|278212|278215|278217|278220|278223|278224|279184|279185|279186|279187|279192|279193|279197|279198|279199|279203|279204|279205|279206|279207|279208|279209|279218|279222|279223|279358|279359|279360|279361|279364|279365|279369|279379|279380|279392|420987|432277|442682|513008|589722|590234|614201|614201|614202|623238|623239|623240|623241|800752|800959|818159|818160|818161|818162|818163|863112|863113|863114|863115|863116|863117|863118|863119|863120|863121|863122|863123|863124|863125|863126|863127|863128|865075|865076|865077|865078|965923", + "text": "Atypical hemolytic-uremic syndrome 1" + }, + { + "baseId": "31582|31583|31586|31590|31593|31594|31597|581999|614201|614202", + "text": "Factor H deficiency" + }, + { + "baseId": "31588|31589|31595|31596|31597|167424|273573|278176|278180|278182|278184|278185|278188|278191|278192|278193|278197|278199|278200|278201|278203|278204|278205|278206|278209|278210|278211|278212|278215|278217|278220|278223|278224|279184|279185|279186|279187|279192|279193|279197|279198|279199|279203|279204|279205|279206|279207|279208|279209|279218|279222|279223|279358|279359|279360|279361|279364|279365|279369|279379|279380|279392|442682|589722|614201|614201|614202|863112|863113|863114|863115|863116|863117|863118|863119|863120|863121|863122|863123|863124|863125|863126|863127|863128|865075|865076|865077|865078", + "text": "Age-related macular degeneration 4" + }, + { + "baseId": "31588|31589|31597|31599|31600|31601|273573|278176|278180|278181|278182|278184|278185|278188|278191|278192|278193|278197|278199|278200|278201|278203|278204|278205|278206|278209|278210|278211|278212|278215|278217|278220|278223|278224|279184|279185|279186|279187|279192|279193|279197|279198|279199|279203|279204|279205|279206|279207|279208|279209|279218|279222|279223|279358|279359|279360|279361|279364|279365|279369|279379|279380|279392|442682|589722|614201|614201|614202|863112|863113|863114|863115|863116|863117|863118|863119|863120|863121|863122|863123|863124|863125|863126|863127|863128|865075|865076|865077|865078|920131", + "text": "Basal laminar drusen" + }, + { + "baseId": "31589|31597|45835|79735|263997|273573|278176|278180|278182|278184|278185|278188|278191|278192|278193|278197|278199|278200|278201|278203|278204|278205|278206|278209|278210|278211|278212|278215|278217|278220|278223|278224|278226|278227|278228|278229|278231|278235|278237|278239|278243|278246|278250|278251|278252|278253|279184|279185|279186|279187|279192|279193|279197|279198|279199|279203|279204|279205|279206|279207|279208|279209|279218|279222|279223|279224|279227|279228|279245|279255|279259|279260|279261|279267|279358|279359|279360|279361|279364|279365|279369|279379|279380|279392|279395|279396|279397|279402|279406|279428|279429|279433|279440|364055|389348|442682|513500|589722|590764|614201|619976|619977|619978|696353|706967|718476|718477|718478|774429|863112|863113|863114|863115|863116|863117|863118|863119|863120|863121|863122|863123|863124|863125|863126|863127|863128|863129|863130|863131|863132|863133|863134|863135|863136|863137|863138|863139|863140|863141|863142|863143|863144|863145|863146|863147|863148|863149|863150|865075|865076|865077|865078|865079|865080", + "text": "CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II" + }, + { + "baseId": "31603|614471", + "text": "Complement factor d deficiency" + }, + { + "baseId": "31605|31606|31612|31613|31614|31615|31616|31617|49931|49932|134455|134456|134457|134458|137898|137899|137899|137901|137904|137905|137908|137910|137911|137913|137914|137915|137917|137918|137919|137920|137921|137922|137924|137931|137932|137934|205172|254790|254791|254792|254793|318811|318814|318816|318819|318821|318824|318825|318830|318832|318833|318834|318840|318841|318847|327190|327193|327194|327196|327198|327208|327213|327219|327225|327226|327226|327234|333317|333319|333321|333325|333331|333332|333334|333335|333346|333347|333352|335057|335058|335071|335081|335082|335088|335091|335092|512935|512936|512937|620464|725347|738923|738925|753682|753685|791291|791292|791293|870642|870643|870644|870645|870646|870647|870648|870649|870650|870651|870652|870653|870654|870655|870656|870657|870658|870659|870660|870661|870662|870663|870664|870665|870666|870667|870668|872299|872300|872301", + "text": "Xeroderma pigmentosum, group G" + }, + { + "baseId": "31607|137899|206564|327226|788874|966040", + "text": "Cerebrooculofacioskeletal syndrome 3" + }, + { + "baseId": "31608|31609|31610|31611", + "text": "Xeroderma pigmentosum group g/Cockayne syndrome" + }, + { + "baseId": "31618|31619|31619|31619|70482|70487|70487|134453|134454|134454|137870|137870|137871|137873|137873|137874|137874|137876|137877|137877|137880|137881|137881|137882|137882|137883|137884|137887|137887|137889|137889|137891|137892|137892|137892|137894|137896|137897|137897|208242|215505|215505|242189|242189|242190|242190|242191|242192|242192|255454|255455|255456|255456|255457|255457|255458|324109|324113|324117|324118|324123|324160|324161|324162|324164|324165|324171|324175|324178|324179|324180|324184|324188|324190|324201|324203|324207|324209|333730|333731|333735|333738|333738|333741|333747|333758|333759|333761|333766|333767|333769|340484|340487|340488|340492|340492|340500|340502|340505|340508|340511|340519|340521|340523|340534|340538|340542|340551|340552|340553|340554|341865|341866|341868|341868|341877|341877|341879|341879|341882|341885|341886|341887|341889|341901|341902|341905|341909|341910|341914|341915|341918|341920|341926|341927|341931|341938|341939|341941|341946|400521|400523|400529|400529|400665|400667|401098|401100|401337|413430|429758|429759|465041|465041|465045|465045|465053|465053|465057|465726|465919|529246|529434|529436|529444|529444|529465|529466|529467|529771|529772|529774|567671|567677|567678|567678|569972|569973|573713|643908|643909|643910|643911|643912|643913|643914|643915|643916|643917|643918|643919|643920|643921|643921|652453|684573|684574|684577|688527|688527|739952|754899|791522|797244|797245|820765|843092|843093|843094|843095|843096|843097|843098|843099|843100|843100|843101|843102|843103|843104|843105|843106|843107|843108|843109|843110|843111|843112|851649|851651|852620|874633|874634|874635|874636|874637|874638|874639|874640|874641|874642|874643|874644|874645|874646|874647|874648|874649|874650|874651|874652|874653|874654|874655|874656|874657|874658|874659|874660|874661|874662|874663|874664|874665|874666|874667|874668|874669|874670|874671|874672|874673|874674|874675|874676|874677|874678|874679|876612|927558|927559|927560|927561|927562|927563|927564|937217|937218|937219|937220|940343|949164|949165|949166|949167|957624|957625|957626|957627|960834", + "text": "Xeroderma pigmentosum, group F" + }, + { + "baseId": "31619|31619|70481|70482|70482|70483|70484|70487|70487|134454|137870|137873|137874|137876|137877|137880|137881|137882|137883|137884|137887|137889|137891|137892|137892|137897|215505|242189|242190|242191|242192|255456|255457|333738|340492|341868|341877|341879|400521|400523|400529|400665|400667|401098|401100|401337|413430|429758|429759|465041|465045|465053|465057|465726|465919|529246|529434|529436|529444|529465|529466|529467|529771|529772|529774|567671|567677|567678|569972|569973|573713|643908|643909|643910|643911|643912|643913|643914|643915|643916|643917|643918|643919|643920|643921|652453|684573|684574|684577|688527|739952|754899|797245|820765|843092|843093|843094|843095|843096|843097|843098|843099|843100|843101|843102|843103|843104|843105|843106|843107|843108|843109|843110|843111|843112|851649|851651|852620|919606|927558|927559|927560|927561|927562|927563|927564|937217|937218|937219|937220|940343|949164|949165|949166|949167|957624|957625|957626|957627|960834", + "text": "Fanconi anemia, complementation group Q" + }, + { + "baseId": "31619|31619|31620|70487|137892|613483", + "text": "XFE progeroid syndrome" + }, + { + "baseId": "31621|31622|31624|31625|31627|31628|137859|137867|137867|137869|259693|281793|281794|281798|281800|282412|282424|282425|282427|282429|284042|284047|284063|284070|284072|284080|284221|284229|284236|284238|284239|284240|284242|284244|284255|284275|284279|284281|284284|615785|620028|620029|620030|685111|707709|719233|774569|790037|790038|790039|790040|790041|790042|881009|881010|881011|881012|881013|881014|881015|881016|881017|881018|881019|881020|881021|881022|881023|881024|881025|881026", + "text": "Xeroderma pigmentosum, complementation group b" + }, + { + "baseId": "31623|137867", + "text": "Trichothiodystrophy 2, photosensitive" + }, + { + "baseId": "31629", + "text": "Estrogen receptor mutant, temperature-sensitive" + }, + { + "baseId": "31630", + "text": "Migraine, susceptibility to" + }, + { + "baseId": "31631|31632|75131|165621|165622|165623|165624|165625|165626|165627|424252|578655|578656", + "text": "Estrogen resistance" + }, + { + "baseId": "31633", + "text": "Hdl cholesterol, augmented response of, to hormone replacement" + }, + { + "baseId": "31641", + "text": "Microvascular complications of diabetes 2" + }, + { + "baseId": "31643|31644", + "text": "EPOXIDE HYDROLASE 1 POLYMORPHISM" + }, + { + "baseId": "31647|31648|31649|31650|31651", + "text": "Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic" + }, + { + "baseId": "31647|31648|31649|31651|31652|54420|174095|174097|174098|174099|174100|174101|174102|174103|174104|174105|174106|174107|174108|174109|174110|174112|174113|174115|174116|174117|174118|174230|174231|174232|174233|174234|174236|174237|174238|174239|174240|174241|174242|174243|174244|174245|174246|174247|174249|174250|174251|174252|174254|178179|178181|178198|178201", + "text": "Tyrosine kinase inhibitor response" + }, + { + "baseId": "31648", + "text": "Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic" + }, + { + "baseId": "31648", + "text": "carboplatin, docetaxel, erlotinib, gemcitabine, and paclitaxel response - Efficacy" + }, + { + "baseId": "31648|31652|227818", + "text": "gefitinib response - Efficacy" + }, + { + "baseId": "31648|31652", + "text": "erlotinib response - Efficacy" + }, + { + "baseId": "31648", + "text": "Gefitinib response" + }, + { + "baseId": "31648", + "text": "Erlotinib response" + }, + { + "baseId": "31652", + "text": "Nonsmall cell lung cancer, resistance to tyrosine kinase inhibitor in" + }, + { + "baseId": "31652|54393|54416|54442|54443|54449|54462|54463|132039|137759|137761|137763|137764|137765|137766|137768|137769|137770|137771|205383|252902|303207|303209|303210|303216|306481|306483|311366|311367|311466|311467|311469|363091|550726|575762|575763|575765|575771|575775|575777|575778|575779|575780|683914|683915|683916|683917|711069|711070|711071|722589|736193|736194|736195|736196|736197|744422|750695|750696|750697|750698|750699|759690|759691|766312|766313|766315|777863|782880|790728|790729|790733|819877|819878|819879|819880|819881|819882|833644|833645|833646|833647|833648|833649|833650|833651|833652|833653|833654|833655|833656|833657|833658|833659|833660|833661|833662|833663|833664|833665|833666|833667|833668|833669|833670|833671|833672|833673|833674|833675|833676|833677|833678|833679|833680|833681|833682|833683|833684|833685|833686|833687|833688|833689|833690|833691|833692|833693|833694|833695|833696|833697|833698|833699|833700|833701|833702|833703|833704|833705|833706|833707|833708|833709|833710|833711|833712|833713|833714|833715|833716|833717|833718|833719|833720|833721|833722|833723|833724|833725|833726|833727|851154|851156|851644|852092|852371|924866|924867|924868|924869|924870|924871|924872|924873|924874|924875|933898|933899|933900|933901|933902|933903|933904|933905|933906|933907|933908|933909|933910|933911|933912|933913|933914|933915|933916|933917|933918|933919|933920|933921|933922|933923|933924|933925|933926|933927|933928|933929|933930|933931|933932|933933|933934|933935|933936|933937|933938|933939|933940|933941|933942|940077|940078|940079|940080|940081|945645|945646|945647|945648|945649|945650|945651|945652|945653|945654|945655|945656|945657|945658|945659|945660|945661|945662|945663|945664|945665|945666|945667|945668|945669|945670|945671|945672|945673|945674|945675|945676|945677|945678|945679|945680|945681|945682|945683|945684|945685|945686|945687|945688|945689|945690|945691|945692|945693|945694|945695|945696|945697|945698|945699|945700|945701|945702|945703|945704|945705|945706|945707|945708|945709|945710|945711|945712|945713|945714|945715|945716|945717|945718|955163|955164|955165|955166|955167|955168|955169|955170|955171|955172|955173|955174|955175|955176|955177|955178|955179|955180|959859|959860|959861|960633|960634|960635", + "text": "EGFR-related lung cancer" + }, + { + "baseId": "31653|227748|291957|291959|291968|291978|291981|291986|291987|291995|292002|292004|292005|292007|292008|292009|292015|292017|292018|292022|292024|292025|293383|293408|293432|293435|293436|293437|293439|293440|293444|293451|293454|293456|293458|293460|293461|293462|296682|296683|296685|296688|296701|296703|296710|296718|296721|296722|296726|296727|296728|296730|296731|296736|296740|296744|296747|296750|296751|296752|296753|296755|296759|296760|296762|296764|296768|620141|620142|698334|698335|709124|709125|720707|720709|720710|720711|734402|734403|748667|764257|764258|779006|779022|889898|889899|889900|889901|889902|889903|889904|889905|889906|889907|889908|889909|889910|889911|889912|889913|889914|889915|889916|889917|889918|889919|889920|889921|889922|889923|889924|889925|889926|889927|889928|889929|891730|891731|891732|891733|891734|891735|918870", + "text": "Hypomagnesemia 4, renal" + }, + { + "baseId": "31654|31655|204575", + "text": "Eosinophil peroxidase deficiency" + }, + { + "baseId": "31656|31657|329065|329070|329071|329074|339128|339129|339134|339145|339157|339161|339168|339169|339173|339174|345095|345098|345099|346462|346463|346466|375275|375285|378434|434663|467919|506003|506917|569243|571257|574511|587869|646166|646167|646168|646169|797557|845594|845595|845596|845597|845598|877881|877882|877883|877884|877885|877886|880545|904885|919739|958179", + "text": "Glycogen storage disease due to muscle beta-enolase deficiency" + }, + { + "baseId": "31658|31659|31660|31661|31662|31663|31664|31665|31666|31667|31668|31669|38647|38648|138209|138210|237608|253873|253874|253875|311299|311304|311305|311315|311317|311325|311326|311329|311330|311332|311336|311338|311340|311341|311346|311347|316776|316777|316796|316801|316804|316814|316817|316829|316830|316835|316837|316838|316841|316858|316864|322770|322791|322795|322797|322798|322799|322800|322819|322820|322821|322826|322827|322829|322838|323435|323465|323466|323470|323476|323477|323478|576138|590569|682248|790986|790987|857677|858561|866382|866383|866384|866385|866386|866387|866388|866389|866390|866391|866392|866393|866394|866395|866396|866397|866398|866399|866400|866401|868517|868518|919293|963003|963362|965221|965281|983853", + "text": "Hypoparathyroidism-deafness-renal disease syndrome" + }, + { + "baseId": "31670|31671", + "text": "Autism 10" + }, + { + "baseId": "31672|31674|31675|31676|31677|31680|227355|230447|230450|230452|230454|254872|254873|320023|320024|320028|320029|320033|320034|320042|328581|328583|328585|328587|328588|328589|328590|328594|335062|335063|335065|335069|336973|336988|336994|337001|337002|337006|337019|337036|337039|337041|497032|576161|610531|871494|871495|871496|871497|871498|871499|871500|871501|871502|871503|871504|871505|871506|871507|871508|871509|871510|871511|871512|871513|871514|871515|871516|871517|871518|871519|871520|871521|871522|871523|871524|871525|872347", + "text": "Hirschsprung disease 2" + }, + { + "baseId": "31672|31673|31677|31678|31679|227355|535275|535276|538019|538020|538021|538435|576161|581727|612032", + "text": "Waardenburg syndrome type 4A" + }, + { + "baseId": "31677|247444|247445|389334|622878", + "text": "Mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant" + }, + { + "baseId": "31679|576161", + "text": "ABCD syndrome" + }, + { + "baseId": "31681", + "text": "Migraine, resistance to" + }, + { + "baseId": "31682|31683|31686|31688|31689|31690|231108|336103|536012|538252", + "text": "Waardenburg syndrome type 4B" + }, + { + "baseId": "31685|31686|31687|231106|336098|336099|336103|336107|336110|336111|336112|336114|336118|336123|336124|336126|336132|345832|345834|345850|345851|345854|345856|345858|345862|345863|345867|345872|345874|350280|350283|350286|350289|350290|350293|350294|350295|350298|351312|351313|351314|351315|351316|351318|351320|351321|886443|886444|886445|886446|886447|886448|886449|886450|886451|886452|886453|886454|886455|886456|886457|886458|886459|886460|886461|886462|887479", + "text": "Hirschsprung disease 4" + }, + { + "baseId": "31691", + "text": "High density lipoprotein cholesterol level quantitative trait locus 7" + }, + { + "baseId": "31692|31694|31701|141573|141576|141579|141581|211968|211976|211980|211990|211993|224789|338584|338593|352680|415724|656705|729315|743039|758186|758187|760808|773628|773634|776839|786652|961241|980068|980069|980070|980071|980072|980073|980074|980075", + "text": "Mitochondrial neurogastrointestinal encephalomyopathy" + }, + { + "baseId": "31706", + "text": "IgA nephropathy, susceptibility to" + }, + { + "baseId": "31707|31708|31709|31710|31712|31713|31715|140911|140912|140913|171109|171110|171112|171113|172175|174130|174131|178593|209943|209945|209948|209949|209952|209955|221804|227844|227845|229663|240449|240451|240452|240453|240455|240457|240459|240460|240462|240463|240464|253309|253310|253312|259913|259914|306870|306871|306874|306877|306879|311049|311050|311060|311062|311065|311066|311067|316665|316668|316671|316933|316943|316947|316949|316950|316951|316967|316969|316970|316971|316975|316976|316977|316979|316982|316996|316999|317000|317006|325595|331658|331659|331662|331668|331672|331679|331683|331684|331686|331694|331695|331701|331704|333281|341907|341932|341934|341935|341942|341944|341945|341948|347270|347281|347290|347332|347335|347347|348571|348608|348613|348647|348649|348653|348656|348660|348670|353480|353481|360048|361866|370234|396357|396401|396403|396409|396684|396686|396689|396695|396702|396773|396827|396851|397002|397049|397050|397057|397059|397069|397070|397071|397081|397083|397091|397093|407547|414378|421700|421701|428921|430980|433051|433053|433055|433056|433063|433527|437737|437738|437739|437740|437741|437742|444357|444363|446888|458237|458245|458250|458254|458260|458270|458282|458284|458289|458645|458720|458776|458777|458780|458789|458792|458798|458809|458812|458846|458853|458860|458867|459158|459277|459289|459290|459295|459297|459304|472247|495390|508963|523963|523975|523980|524233|524236|524242|524244|524266|524277|524281|524282|524434|524499|524508|524509|524511|524517|524523|524525|524529|524578|524584|524585|524587|524593|540529|562579|562738|562746|562752|562755|562756|562762|562769|563226|563423|563424|563425|563427|563447|563451|563461|563469|563470|563475|563476|565329|565500|565510|565517|565519|565523|565525|568310|568482|568488|568489|568494|568495|568496|568505|609706|609709|609710|609712|609714|609718|625987|637682|637697|637698|637705|637713|651901|651977|687370|689931|767104|796221|799564|799565|799566|799567|799568|799569|799570|799571|799572|799573|799574|799575|799576|835467|835471|835474|835488|835499|852481|901099|901100|901101|901102|901103|901104|901105|901106|901107|901108|901109|901110|901111|901112|901113|901114|901115|901116|901117|901118|901119|901120|901121|901122|901123|901124|901125|901126|901127|901129|901130|901131|905029|925377|925378|925383|934547|964309|970563|970564|970565|970566|970567|970568|970569|970570|970571|970572|970573|970574|970575|970576|970577|970578|970579|970580|970581|970582|970583|970584|970585|970586|970587|970588|970589|970590|970591|970592|970593|970594|970595|970596|970597|970598|970599|970600|970601|970602|970603|970604|970605|970606|970607|970608|970609|970610|970611|970612|981653|981654|981655|981656|981657|981658|981659|981660|981661|981662", + "text": "Hereditary hemorrhagic telangiectasia type 1" + }, + { + "baseId": "31715|140913|171109|171110|171112|171113|172175|174130|174131|174685|191136|209943|209944|209945|209948|209949|209950|209955|209956|209960|221804|227845|240449|240450|240451|240452|240453|240454|240455|240458|240460|240462|253309|253310|259913|259914|266944|268906|306870|311060|316967|316970|316971|316976|361866|369766|370234|372136|396395|396396|396397|396408|396410|396413|396421|396423|396686|396689|396692|396695|396699|396702|396768|396830|396839|396844|396846|396851|397050|397054|397057|397079|397081|397086|407545|407547|407548|414377|421701|428921|433052|433055|433056|433059|433063|433529|444355|444361|458289|458780|458790|458808|458855|458862|459148|459279|459290|459295|459301|459306|502143|523957|523982|524230|524244|524248|524257|524268|524275|524497|524499|524511|524539|524587|562739|562744|562765|562767|563222|563424|563428|563445|563451|565323|565500|565503|565504|565512|565514|565516|565523|568505|568506|590609|609706|609711|637678|637679|637680|637681|637682|637683|637684|637685|637686|637687|637688|637689|637690|637691|637692|637693|637694|637695|637696|637697|637698|637699|637700|637701|637702|637703|637704|637705|637706|637707|637708|637709|637710|637711|637712|637713|637714|651825|651829|651901|651977|652099|684044|684047|687367|687368|687369|689931|689933|692574|736889|736890|767102|796223|796224|799570|799574|799576|820057|820059|820060|820061|820062|820063|820064|820065|820066|820067|820068|835467|835468|835469|835470|835471|835472|835473|835474|835475|835476|835477|835478|835479|835480|835481|835482|835483|835484|835485|835486|835487|835488|835489|835490|835491|835492|835493|835494|835495|835496|835497|835498|835499|851720|852481|901119|925372|925373|925374|925375|925376|925377|925378|925379|925380|925381|925382|925383|934538|934539|934540|934541|934542|934543|934544|934545|934546|934547|940127|940128|940923|946356|946357|946358|946359|946360|946361|946362|946363|946364|946365|946366|946367|946368|946369|946370|946371|946372|946373|955683|955684|955685|955686|955687|955688|955689|959910|959911", + "text": "Hereditary hemorrhagic telangiectasia" + }, + { + "baseId": "31727|363534|419830|439678|439679|439680|439681|439682|439683|439684|439685|439686", + "text": "Metastatic pancreatic neuroendocrine tumours" + }, + { + "baseId": "31732", + "text": "Lipoma, somatic" + }, + { + "baseId": "31733|31734", + "text": "Angiofibroma, somatic" + }, + { + "baseId": "31737", + "text": "Adenoma of the adrenal gland" + }, + { + "baseId": "31750|31751|31752|31753|31754|576085|609423|792677|799214|799215|799216|799217|799218|981320|981321|981322", + "text": "Elliptocytosis 1" + }, + { + "baseId": "31755|31756|31757", + "text": "Glutaric acidemia IIB" + }, + { + "baseId": "31758|31759|31760|31761|31762|31763|31764|31769|31770|31771|31772|38645|48909|52751|52752|52753|52754|52755|53059|176338|176460|176596|176775|176776|176777|176780|176781|176782|176783|176785|176785|176786|176788|176789|176790|178200|178208|178209|178257|178268|190789|192634|209906|209907|209911|209918|209918|209919|209925|209928|209931|209933|209939|209941|231309|231406|240166|240167|267658|303321|303323|303330|303340|303342|303348|303349|303350|303355|303357|303358|303359|306672|306679|306680|306689|306696|306703|306704|306707|306715|306716|306717|306722|306729|306742|306752|306756|311559|311563|311572|311574|311575|311577|311578|311580|311588|311589|311590|311591|311596|311597|311598|311602|311720|311721|311722|311723|311725|311727|311730|311734|369271|369272|369953|369955|395238|395902|396128|396411|396415|407257|444157|444158|456894|456896|456901|456907|457388|457392|457398|457578|457582|457913|457915|493689|494051|496484|497843|497857|501792|501795|502495|514560|522277|522812|522812|523047|523055|523060|523061|523242|523247|523369|536740|561743|561746|561748|562141|562143|564405|564406|567112|567122|576125|576125|636324|636325|636326|636327|651623|651696|651765|654496|655801|663012|683927|683928|683930|683931|683933|685225|687103|687105|687107|687108|819913|819914|819915|833819|833820|833821|833822|833823|833824|833825|833826|833827|833828|833829|851654|851656|852102|852376|859619|898343|898344|898345|898346|898347|898348|898349|898350|898351|898352|898353|898354|898355|898356|898357|898358|898359|898360|898361|898362|900388|900389|900390|900391|900392|924901|924902|933990|940882|940883|945754|945755|955211|955212|955213|960637|964665|975796|983573", + "text": "Supravalvar aortic stenosis" + }, + { + "baseId": "31765|31766|31767|31773|31774|31775|31776|34304|52752|52753|176785|192634|198648|209911|209918|209918|209919|209939|231309|267658|303321|303323|303330|303348|303349|303350|303355|303357|303358|306672|306679|306680|306696|306703|306704|306707|306715|306716|306722|306742|311563|311574|311578|311580|311588|311589|311590|311591|311597|311598|311602|311720|311721|311722|311723|311725|311727|311734|369271|396128|407257|444157|444158|457915|522812|561746|562141|576125|654496|685225|687103|859619|898343|898344|898345|898346|898347|898348|898349|898350|898351|898352|898353|898354|898355|898356|898357|898358|898359|898360|898361|898362|900388|900389|900390|900391|900392", + "text": "Cutis laxa, autosomal dominant 1" + }, + { + "baseId": "31777|31777|31778|31779|31779|31782|31784|31784|140903|140904|140904|140905|178750|205023|243853|243855|243865|243868|243869|243869|245163|245163|257294|257296|257297|257299|260218|410724|446203|470271|471345|471349|507235|507640|533462|533505|533967|533971|533973|533974|533978|571110|571125|571127|573440|573441|575069|575070|575071|648551|648552|648553|648554|648555|648556|648557|648558|648559|648560|648561|648562|648563|648564|648565|652970|653528|653529|656614|684860|689177|694523|791965|791966|800165|821298|848186|848187|848188|848189|848190|848191|848192|848193|852896|929134|929135|929136|929137|938897|938898|938899|938900|938901|940496|950968|950969|950970|950971|950972|950973|950974|950975|958769|958770", + "text": "Cyclical neutropenia" + }, + { + "baseId": "31777|31779|31782|31782|31783|31784|31784|31785|31787|132671|140903|140904|140905|205024|243853|243855|243865|243868|243869|243869|245163|257294|257296|257297|257299|260218|410724|446203|470271|471345|471349|507235|507640|533462|533505|533967|533971|533973|533974|533978|571110|571125|571127|573440|573441|575069|575070|575071|648551|648552|648553|648554|648555|648556|648557|648558|648559|648560|648561|648562|648563|648564|648565|652970|653528|653529|656614|684860|689177|694523|800165|821298|848186|848187|848188|848189|848190|848191|848192|848193|852896|929134|929135|929136|929137|938897|938898|938899|938900|938901|940496|950968|950969|950970|950971|950972|950973|950974|950975|958769|958770|965629|969615", + "text": "Neutropenia, severe congenital 1, autosomal dominant" + }, + { + "baseId": "31788|31790|38481|53814|135065|141945|244249|276934|276937|276938|276943|276944|277211|277215|277216|277906|277907|277912|277913|277914|278013|278014|278015|278016|278027|353066|361263|539028|946956", + "text": "Congenital hypomyelinating neuropathy 1, autosomal recessive" + }, + { + "baseId": "31789|31791|49429|49430|49431|221981|244557|244559|244560|253796|310600|310603|310604|315774|315775|315776|315779|315780|321852|321857|322507|322508|322510|322513|322519|322521|460793|539028|626198|866038|866039|866040|866041|866042|866043", + "text": "Charcot-Marie-Tooth disease, demyelinating, type 1d" + }, + { + "baseId": "31791|31792", + "text": "Dejerine-sottas neuropathy, autosomal dominant" + }, + { + "baseId": "31793|31794|31795|31796|31798|31799|31800|70601|70602|70603|70604|70605|70606|70607|70608|70609|70610|70611|70612|70613|70614|70615|70616|70617|70618|70619|70620|70621|70622|70623|70624|70625|70626|70627|70628|70629|70630|70631|70632|70633|70634|70635|70636|70637|70638|70639|70640|70641|70642|70643|70644|70645|70646|70647|70648|301442|301443|301444|301449|301451|301452|301453|301479|304686|304694|304699|304700|304702|309309|309310|309313|309321|309330|309331|309333|309335|309345|309346|309353|309357|309467|309470|309474|309476|309477|309482|309485|309486|370663|623296|699735|699736|710694|710695|722231|722232|790671|792765|897214|897215|897216|897217|897218|897219|897220|897221|897222|897223|897224|897225|897226|897227|897228|897229|897230|897231|897232|900299|900300|900301|900302|900303", + "text": "Congenital secretory diarrhea, chloride type" + }, + { + "baseId": "31802|31803|38640|102921|102922|102923|196211|363960|363960|454675|454745|454768|454771|455167|508799|512901|512902|520794|521089|521203|521205|521263|521295|521298|559960|564805|564816|564872|622347|633510|633522|633546|633547|633548|633549|633550|633551|798553|920206|961603|961604", + "text": "Parkinsonism-dystonia, infantile, 1" + }, + { + "baseId": "31804", + "text": "Blepharospasm" + }, + { + "baseId": "31805|31808", + "text": "Attention deficit-hyperactivity disorder, susceptibility to" + }, + { + "baseId": "31806", + "text": "Autonomic nervous system dysfunction" + }, + { + "baseId": "31807", + "text": "DOPAMINE RECEPTOR D4 POLYMORPHISM" + }, + { + "baseId": "31809", + "text": "Essential tremor, susceptibility to" + }, + { + "baseId": "31809|288123|288867|288871|288877|291812|291911|291912|291920|291923|291926|887702|887703", + "text": "Hereditary essential tremor 1" + }, + { + "baseId": "31811", + "text": "Dna topoisomerase II, resistance to inhibition of, by amsacrine" + }, + { + "baseId": "31813", + "text": "DNA topoisomerase I, camptothecin-resistant" + }, + { + "baseId": "31814|31815", + "text": "DNA ligase I deficiency" + }, + { + "baseId": "31816|31817|227406|237162|583130|626277", + "text": "Cerebrooculofacioskeletal syndrome 4" + }, + { + "baseId": "31818|31819|31821|31822|31823|31827|31828|31829|31830|31831|31832|31832|137834|137836|137837|137838|137838|137839|137840|137841|137843|137844|137846|137853|137856|257141|257142|257144|257147|257148|259254|333807|333809|333810|333811|333816|333817|343771|343773|343780|343782|343784|343785|343786|349074|349076|349077|349077|349079|349083|349085|349974|349976|349977|349980|349982|349983|349984|349985|349988|349991|349996|349997|349998|350001|350005|389209|537335|615829|615830|615846|620642|620643|620644|620907|728270|731290|757111|757117|772746|772747|779918|779923|786226|791939|793797|882119|882120|882121|882122|882123|882124|882125|882126|882127|882128|882129|882130|882131|882132|882133|882134|882135|882136|882137|882138|882139|882140|882141|882142|882143|882144|882145|882146|882147|882148|882149|882906|882907|882908", + "text": "Xeroderma pigmentosum, group D" + }, + { + "baseId": "31818|31820|31823|31824|31825|31831|31831|31832|137838|137838|214806|349077|389209", + "text": "Trichothiodystrophy 1, photosensitive" + }, + { + "baseId": "31826|31827|31831|31831|31832|137838|137855|349077|550640|970421", + "text": "Cerebrooculofacioskeletal syndrome 2" + }, + { + "baseId": "31831|622465", + "text": "Trichothiodystrophy" + }, + { + "baseId": "31831", + "text": "ERCC2-related conditions" + }, + { + "baseId": "31833", + "text": "Ventricular fibrillation, paroxysmal familial, 2" + }, + { + "baseId": "31834|31835|31836|31838|97384|97385|178310|310625|321902|321910|321912|321915|322602|322609|322610|420435|525555|737571|790977|866100|925910", + "text": "Hyperphenylalaninemia, BH4-deficient, D" + }, + { + "baseId": "31839|31840|31841|31842|31843|31844|31845|31846|31847|134341|134342|255858|255859|326238|326242|326247|326265|326275|326281|326286|326287|326293|335981|335990|335993|335997|335999|336006|336008|336012|336013|336015|336022|336023|336025|336028|336033|336034|336036|336037|342297|342301|342304|342305|342307|342308|342311|342312|342315|343894|343899|343900|343901|343902|343906|343909|343914|343916|353355|703795|726776|875915|875916|875917|875918|875919|875920|875921|875922|875923|875924|875925|875926|875927|875928|875929|875930|875931|875932|875933|875934|876719|876720", + "text": "Miller syndrome" + }, + { + "baseId": "31848", + "text": "Benzene toxicity, susceptibility to" + }, + { + "baseId": "31848", + "text": "Leukemia, post-chemotherapy, susceptibility to" + }, + { + "baseId": "31848", + "text": "Breast cancer, post-chemotherapy poor survival in" + }, + { + "baseId": "31848", + "text": "Alkylating Agents, anthracyclines and related substances, fluorouracil, and Platinum compounds response - Efficacy" + }, + { + "baseId": "31849|31850|31851|31852|31853|31854|31855|31856|31857|44673|44674|44675|44676|44677|44678|53444|53445|53446|53450|53451|53454|53455|53456|53457|53459|53460|53462|53463|53464|53465|53467|53469|53470|53471|53472|53473|53474|53475|53476|53477|53479|53480|53481|53482|53483|53484|53485|53486|53488|53489|53490|53491|53493|53495|53496|53497|53498|140863|140867|140868|140869|165536|171194|176526|176527|176529|176531|176532|176533|176534|176535|176536|176541|176664|176665|176667|176669|176671|176672|176673|176674|176676|176677|176678|176679|178729|186567|186568|186572|186574|188894|189986|189989|189993|189994|197966|197968|197969|197973|197974|197975|197976|197977|197979|197980|197984|197986|197990|197995|197998|198000|198001|198003|198005|198006|198007|198008|198009|215553|224539|224541|230862|230864|230865|230866|230868|230870|245257|245259|247150|256651|259026|259032|259033|259038|259043|264903|331153|331163|331167|331172|331175|331178|331180|331181|331187|331190|331193|331197|331200|331208|331212|331214|331215|341417|341421|341425|341427|341439|341452|341470|341473|341479|341483|341489|341490|341493|346908|346911|346912|346924|346928|346937|346939|346946|346956|346966|346967|348176|348180|348183|348188|348190|348194|348197|348200|348210|348217|348223|348224|348230|375884|375890|376942|376943|378958|378962|378964|378971|378974|402715|402720|402763|402769|402779|402783|402787|403248|403252|403258|403282|403284|403295|404835|410342|410344|410345|410349|410350|410351|410353|410358|410359|410360|415598|445956|445957|467956|467958|468882|468891|468900|468902|468905|468915|468916|469285|469286|469299|469302|469310|469313|469314|469717|469718|469725|469729|469734|469736|487932|506545|507339|507348|510783|510788|510789|511137|532221|532226|532228|532230|532234|532258|532321|532323|532325|532334|532336|532343|532666|532668|532679|532717|536966|570105|570110|571885|571888|571889|571895|571896|571898|571908|572617|572620|572621|572622|574729|574731|574733|574735|574737|576268|576269|610127|610128|618873|618874|647161|647164|647165|647166|647167|647168|647169|647170|647171|647172|647173|647174|647175|647176|647177|647178|647179|647180|647181|647182|653552|654842|684753|688905|688907|727703|772120|772121|788274|797666|821186|821187|846780|846781|846782|846783|846784|846785|846786|846787|846788|846789|846790|846791|846792|846793|846794|846795|846796|846797|846798|846799|846800|846801|846802|846803|846804|851771|852935|879140|879141|879142|879143|879144|879145|879146|879147|879148|879149|879150|879151|879152|879153|879154|879155|879156|879157|879158|879159|879160|879161|879162|880652|880653|904021|914429|914551|914571|914572|914607|916604|918429|919793|919794|928683|928684|928685|928686|928687|928688|928689|938410|938411|938412|938413|938414|938415|950496|950497|950498|950499|950500|958455|958456|958457|960264|961886|965745", + "text": "Arrhythmogenic right ventricular cardiomyopathy, type 10" + }, + { + "baseId": "31851|198007|572622", + "text": "Arrhythmogenic right ventricular dysplasia/cardiomyopathy, type 10" + }, + { + "baseId": "31857|186568|198007|230865|404835|410357", + "text": "Dilated cardiomyopathy 1BB" + }, + { + "baseId": "31858|94243|94244|94245|94246|94247|94248|486662", + "text": "Palmoplantar keratoderma i, striate, focal, or diffuse" + }, + { + "baseId": "31859|31860|31861|31862|31863|31863|31864|31864|31865|31865|31866|31867|31868|31869|31870|31871|31872|31873|31873|31874|44665|44665|44666|44667|48317|48317|53409|53410|53410|53411|53412|53413|53414|53419|53419|53420|53421|53421|53422|53422|53423|53423|53423|53425|53425|53426|53427|53428|53429|53429|53430|53432|53432|53433|53433|53434|53435|53435|53437|53438|53438|53439|53440|53440|53441|53441|53442|71446|77284|77285|77286|77286|77290|77293|77294|77295|77299|77299|77305|77308|77309|77311|77316|77316|77320|77320|140780|173492|173494|173494|173630|173631|173631|173632|173633|173633|173735|178397|190384|190384|198108|198111|198112|198113|198114|198116|198121|198123|198124|198127|198128|198130|198130|198131|198132|198135|224252|228913|228914|228916|228917|228919|228920|228921|228922|228923|228924|238659|238660|238661|238662|238663|238664|238665|238666|258239|258242|258243|267704|267704|269244|269334|269574|270200|273357|274199|274251|284791|284792|284793|285474|285481|285482|287689|287699|287976|353560|366383|366437|366441|367018|367018|392363|392367|392368|392379|392391|392477|392479|392485|392488|392581|392592|392708|392712|392716|392719|392725|392729|405627|405629|405630|405631|405632|405634|443166|443167|450393|450395|450652|450654|450655|450663|450666|450677|450745|450750|450759|481123|486932|489161|489280|489771|490042|491451|491907|499542|499777|499780|500012|500018|513253|513411|517732|517741|517743|517835|517838|517839|517846|517847|517849|517853|538929|557886|557888|557890|557892|557941|557943|557945|557947|557949|558627|559127|559129|559131|560952|560960|560964|560984|587482|609183|614882|629488|629489|629490|629491|629492|629493|629494|629495|629496|629497|629498|629499|629500|629501|629502|629503|650939|655421|683487|733179|762954|762956|774706|781187|781188|790200|792962|802131|819126|819127|819128|825765|825766|825767|825768|825769|825770|825771|825772|825773|825774|825775|825776|825777|825778|825779|825780|825781|825782|825783|825784|825785|825786|825787|825788|850884|883802|883803|883804|883805|883806|883807|883808|883809|883810|883811|887277|918740|922584|922585|922586|922587|922588|922589|922590|931159|931160|931161|940696|940697|940698|942617|942618|942619|942620|942621|942622|942623|942624|942625|942626|952949|952950|952951", + "text": "Myofibrillar myopathy 1" + }, + { + "baseId": "31859|31863|44665|44666|44667|53409|53410|53411|53412|53419|53421|53422|53423|53423|53425|53429|53430|53432|53433|53438|53439|53440|53441|77320|173494|173631|190384|198108|267704|284791|284792|285474|285481|285482|287689|287699|287976|443167|481123|609294|883802|883803|883804|883805|883806|883807|883808|883809|883810|883811|887277", + "text": "Dilated cardiomyopathy 1I" + }, + { + "baseId": "31863|31864|31865|31873|31874|44665|48317|53410|53411|53413|53414|53419|53420|53421|53422|53423|53423|53425|53426|53428|53429|53432|53433|53434|53435|53437|53438|53440|53441|53442|77284|77286|77290|77294|77295|77299|77305|77309|77311|77316|77320|140780|173492|173494|173630|173631|173633|173735|190384|198111|198112|198113|198114|198116|198121|198123|198124|198127|198128|198130|198131|198132|198135|224252|228913|228914|228916|228917|228919|228920|228921|228922|228923|228924|238659|238660|238661|238662|238663|238664|238665|238666|258239|258242|258243|267704|269244|269334|269574|270200|273357|274199|274251|366383|366437|366441|367018|392363|392367|392368|392379|392391|392479|392485|392488|392581|392592|392708|392712|392716|392719|392725|392729|405627|405629|405630|405631|405632|405634|443166|450393|450395|450652|450654|450655|450663|450666|450677|450745|450750|450759|481123|486932|489161|489280|489771|490042|491451|491907|499542|499777|499780|500012|500018|517732|517741|517743|517835|517838|517839|517846|517847|517849|517853|557886|557888|557890|557892|557941|557943|557945|557947|557949|558627|559127|559129|559131|560952|560960|560964|560984|587482|614882|629488|629489|629490|629491|629492|629493|629494|629495|629496|629497|629498|629499|629500|629501|629502|629503|650939|655421|683487|733179|762954|762956|774706|781187|781188|792962|819126|819127|819128|825765|825766|825767|825768|825769|825770|825771|825772|825773|825774|825775|825776|825777|825778|825779|825780|825781|825782|825783|825784|825785|825786|825787|825788|850884|922584|922585|922586|922587|922588|922589|922590|931159|931160|931161|940696|940697|940698|942617|942618|942619|942620|942621|942622|942623|942624|942625|942626|952949|952950|952951", + "text": "Muscular dystrophy, limb-girdle, type 2R" + }, + { + "baseId": "31863|31874|44665|44666|44667|53409|53410|53412|53419|53421|53422|53423|53423|53425|53429|53430|53432|53433|53438|53439|53441|77320|173494|173631|190384|198108|267704|284791|284792|285474|285481|285482|287689|287699|287976|443167|883802|883803|883804|883805|883806|883807|883808|883809|883810|883811|887277", + "text": "Neurogenic scapuloperoneal syndrome, Kaeser type" + }, + { + "baseId": "31875|31885|54106|173844|197036|444013|679437|919059|919060|919061", + "text": "Keratosis palmoplantaris striata II" + }, + { + "baseId": 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+ "text": "Dilated cardiomyopathy with woolly hair and keratoderma" + }, + { + "baseId": 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+ "text": "Arrhythmogenic right ventricular dysplasia 8" + }, + { + "baseId": 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+ "text": "Skin fragility-woolly hair-palmoplantar keratoderma syndrome" + }, + { + "baseId": "31882|31883|31885|44679|44680|44683|44684|44685|44689|44690|54017|54022|54025|54027|54028|54030|54034|54040|54041|54042|54043|54044|54045|54046|54048|54053|54057|54060|54064|54066|54067|54073|54074|54075|54082|54084|54086|54091|54092|54093|54096|54103|54105|54108|54110|54114|54117|54120|54124|54128|54130|54134|54135|54136|54138|54147|54149|140871|140874|140875|140876|171102|171104|173850|173853|173855|173989|173996|173997|174000|174002|174009|174135|174136|174142|174143|174382|174383|174520|178363|178364|178559|178566|186332|186339|186340|189827|189831|189834|197039|197041|197056|197057|197095|197109|224330|229489|229491|229496|229501|229517|245264|245281|258459|301040|301042|301044|301049|301057|301063|301065|301066|301069|301070|304009|304010|304013|304014|304029|304031|304032|304033|304034|304035|304037|304040|304041|304042|304043|304045|308731|308732|308733|308740|308741|308743|308744|308745|308746|308748|308764|308765|308773|308774|308775|308785|308786|308795|308800|308803|308804|308807|308814|308817|308818|308821|308822|308823|308824|353797|395213|444013|455827|501465|509820|522192|522195|522238|561092|563799|565989|614946|617313|617332|679438|692061|896845|896846|896847|896848|896849|896850|896851|896852|896853|896854|896855|896858|896862|896864|896869|896870|896871|896872|896873|896874|896875|900268|900269|900271", + "text": "Lethal acantholytic epidermolysis bullosa" + }, + { + "baseId": "31885|181469|360831|513967|679865", + "text": "Right ventricular cardiomyopathy" + }, + { + "baseId": 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+ "text": "Arrhythmogenic right ventricular cardiomyopathy, type 11" + }, + { + "baseId": "31892|31893|31895|31897|31898|31900|918905|983785", + "text": "Dentinogenesis imperfecta - Shield's type II" + }, + { + "baseId": "31894|31895", + "text": "Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1" + }, + { + "baseId": "31895", + "text": "Dentinogenesis imperfecta - Shield's type III" + }, + { + "baseId": "31896|31899|539128|539129", + "text": "Denticles" + }, + { + "baseId": "31901|31902|31903|31904|31905|31907|31908|306496|306497|306498|306504|306511|306513|306514|306516|306525|306536|310673|310675|310677|310681|310686|310694|310698|310702|310705|310706|310707|310721|310723|316070|316076|316079|316084|316085|316086|316088|316089|316092|316095|316096|316097|316098|316384|316401|316402|316405|316406|316414|316417|316424|316444|316447|316450|316453|316459|316463|316465|316469|513073|536755|539433|637635|736820|900852|900853|900854|900855|900856|900857|900858|900859|900860|900861|900862|900863|900864|900865|900866|900867|900868|900869|900870|900871|900872|900873|900874|900875|900876|900877|900878|900879|900880|903298|903299|903300", + "text": "Porphobilinogen synthase deficiency" + }, + { + "baseId": "31903", + "text": "AMINOLEVULINATE DEHYDRATASE, ALAD*1/ALAD*2 POLYMORPHISM" + }, + { + "baseId": "31906", + "text": "Porphyria, acute hepatic, digenic" + }, + { + "baseId": "31909|34154|76571|131908|318693|318694|318698|318701|318702|318703|318707|318708|326991|326994|326998|327004|327006|327008|327024|327027|327028|327029|327035|333108|333109|333113|334826|334854|334856|334859|334860|620460|738897|870550|870551|870552|870553|870554|870555|870556|870557|870558|870559|870560|870561", + "text": "Congenital stromal corneal dystrophy" + }, + { + "baseId": "31910|31911|226396", + "text": "Cromer blood group system" + }, + { + "baseId": "31912", + "text": "Graft-versus-host disease, resistance to" + }, + { + "baseId": "31913", + "text": "Rheumatoid arthritis, progression of" + }, + { + "baseId": "31915|31919|304569|304593|304598|308315|313361|313446|313448|313479|711339|722890|722896|722897|730545|730546|736492|750944|750946|750948|766569|766570|783009|783010|787584|851183|978417|978418|978419|978420|978421|978422|978423|978424|978425|978426|978427|978428|978429|978430|978431|978432|978433|978434|978435|978436|978437|978438|978439|978440|978441|978442|978443|978444", + "text": "Corticosterone methyl oxidase type II deficiency" + }, + { + "baseId": "31916|31917|31918|31919|31921|304547|304548|304552|304553|304554|304555|304569|304570|304571|304572|304573|304577|304580|304581|304583|304593|304594|304596|304598|304602|304605|308289|308296|308310|308312|308315|308316|308321|308322|308323|313344|313345|313346|313347|313348|313349|313350|313355|313361|313362|313407|313411|313418|313425|313428|313433|313445|313446|313448|313449|313454|313455|313456|313457|313462|313464|313467|313479|353825|711339|722896|750943|750948|766574|783007|834166|899064|899065|899066|899067|899068|899069|899070|899071|899072|899073|899074|899075|899076|899077|899078|899079|899080|899081|899082|899083|899084|899085|899086|899087|900454|900455", + "text": "Corticosterone methyloxidase type 1 deficiency" + }, + { + "baseId": "31916|31920|31924|31925|304547|304548|304552|304553|304554|304555|304569|304570|304571|304572|304573|304577|304580|304581|304583|304593|304594|304596|304598|304602|304605|308289|308296|308310|308312|308315|308316|308321|308322|308323|313344|313345|313346|313347|313348|313349|313350|313355|313361|313362|313407|313411|313418|313425|313428|313433|313445|313446|313448|313449|313454|313455|313456|313457|313462|313464|313467|313479|353825|711339|722896|750943|750948|766574|783007|899064|899065|899066|899067|899068|899069|899070|899071|899072|899073|899074|899075|899076|899077|899078|899079|899080|899081|899082|899083|899084|899085|899086|899087|900454|900455", + "text": "Corticosterone methyloxidase type 2 deficiency" + }, + { + "baseId": "31916|38484|711337|711341|722891|722895|730547|750943|766572|766574|783007|783008|783015", + "text": "Corticosterone 18-monooxygenase deficiency" + }, + { + "baseId": "31922|31923", + "text": "Aldosterone to renin ratio, increased" + }, + { + "baseId": "31927", + "text": "CYP2E1*6 ALLELE" + }, + { + "baseId": "31928|31929|31930|31931|31932|31933", + "text": "Debrisoquine, poor metabolism of" + }, + { + "baseId": "31928", + "text": "doxepin response - Dosage, Toxicity/ADR" + }, + { + "baseId": "31928", + "text": "antidepressants response - Dosage, Toxicity/ADR" + }, + { + "baseId": "31928", + "text": "trimipramine response - Dosage, Toxicity/ADR" + }, + { + "baseId": "31928", + "text": "imipramine response - Dosage, Toxicity/ADR" + }, + { + "baseId": "31928", + "text": "clomipramine response - Dosage, Toxicity/ADR" + }, + { + "baseId": "31928", + "text": "tamoxifen response - Efficacy, Toxicity/ADR" + }, + { + "baseId": "31928", + "text": "amitriptyline response - Dosage, Toxicity/ADR" + }, + { + "baseId": "31928", + "text": "nortriptyline response - Dosage, Toxicity/ADR" + }, + { + "baseId": "31928", + "text": "desipramine response - Dosage, Toxicity/ADR" + }, + { + "baseId": "31928|31930|31932|47984", + "text": "Deutetrabenazine response" + }, + { + "baseId": "31928|31929|31930|31932|47984", + "text": "Tamoxifen response" + }, + { + "baseId": "31935", + "text": "Codeine response" + }, + { + "baseId": "31936|31937|31938|31939", + "text": "Mephenytoin, poor metabolism of" + }, + { + "baseId": "31936|31938", + "text": "Proguanil, poor metabolism of" + }, + { + "baseId": "31936", + "text": "Clopidogrel response" + }, + { + "baseId": "31936", + "text": "amitriptyline response - Efficacy" + }, + { + "baseId": "31936|31938", + "text": "clopidogrel response - Efficacy, Toxicity/ADR" + }, + { + "baseId": "31936|227758|227777", + "text": "citalopram response - Efficacy" + }, + { + "baseId": "31936", + "text": "clomipramine response - Efficacy" + }, + { + "baseId": "31937|31938|31939|47946|47948|47949|622287|622289", + "text": "CYP2C19: no function" + }, + { + "baseId": "31939|227812", + "text": "clopidogrel response - Efficacy" + }, + { + "baseId": "31940|31941|31944|31946|31949|31950|31951|31952|31953|31954|306789|306817|311631|679662", + "text": "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis" + }, + { + "baseId": "31941|31942|31943|31945|31946|31952|31954|142492|142493|207490|252926|252927|252929|252930|268412|303365|303366|303373|303376|303386|303388|303394|303396|303404|303406|303410|303417|303419|306773|306779|306781|306788|306793|306794|306796|306797|306803|306805|306806|306807|306814|306819|306827|311603|311614|311617|311632|311634|311635|311637|311648|311649|311671|311672|311736|311741|311746|311749|311751|311755|428743|428744|433858|433859|444161|457445|501805|561753|561756|562151|562165|587443|609664|609665|609666|620267|620268|692294|692295|692296|700224|700226|711129|736273|750777|750778|777876|898363|898364|898365|898366|898367|898368|898369|898370|898371|898372|898373|898374|898375|898376|898377|898378|898379|898380|898381|898382|898383|898384|898385|898386|898387|898388|898389|898390|898391|898392|898393|898394|898395|898396|898397|898398|898399|898400|898401|898402|898403|898404|900393|900394|900395|900396|900397|900398|900399|900400|900401", + "text": "Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency" + }, + { + "baseId": "31955", + "text": "CYP3A4 PROMOTER POLYMORPHISM" + }, + { + "baseId": "31955", + "text": "Cyp3a4-v" + }, + { + "baseId": "31955", + "text": "tacrolimus response - Dosage" + }, + { + "baseId": "31956|178822|252772|590721", + "text": "Thrombocytopenia 4" + }, + { + "baseId": "31957|31958|31959|77413|317903|317904|317908|317909|317913|317915|317916|317917|317921|317923|317928|317929|325761|325764|325766|325779|325788|325792|325793|325795|325796|325805|325807|325810|325815|325822|325825|325826|325827|325837|325840|325844|332042|332043|332051|332062|332063|332065|332066|332069|332073|332076|332077|332079|332085|332088|332089|332091|333519|333521|333531|333532|333533|333541|333548|333549|333550|333551|333553|344375|620849|702382|870144|870145|870146|870147|870148|870149|870150|870151|870152|870153|870154|870155|870156|870157|870158|870159|872263|872264", + "text": "White sponge nevus 1" + }, + { + "baseId": "31960", + "text": "Thyroid-associated orbitopathy, susceptibility to" + }, + { + "baseId": "31960|31961|425459", + "text": "Celiac disease 3" + }, + { + "baseId": "31960", + "text": "TYPE 1 DIABETES MELLITUS 12, SUSCEPTIBILITY TO" + }, + { + "baseId": "31962|31963|50339|336594|336599|336602|336606|336608|346300|346301|346304|346309|346315|346316|350548|350553|350554|350557|351591|351592|351595|351596|351598|351603|469525|533819|533820|533835|534375|534377|534379|573064|573065|573067|573762|575152|620670|648927|648928|648929|648930|648931|648932|648933|648934|648935|728861|742594|757750|757751|773295|773296|792005|821363|848721|848722|848723|848724|848725|848726|852397|886687|886688|886689|887502|920421|929304|929305|939084|939085|939086|939087|951210|951211|951212|958942|958943", + "text": "Inflammatory bowel disease 25, autosomal recessive" + }, + { + "baseId": "31964|31965|31966|40503|40504|40507|40509|49860|323030|323031|323035|323037|323038|332650|332651|339586|339589|339598|339616|340992|340994|341001|341004|620874|656295|799814|799815|873941|873942|873943|873944|873945|873946|873947|873948|873949|873950|873951|873952|873953|873954|876551|876552", + "text": "Osteogenesis imperfecta type 9" + }, + { + "baseId": "31967|31968|132977|137613|137615|137616|139534|139537|151805|180549|183600|183602|183603|183604|183606|183608|183610|222261|234586|244831|318133|318135|318142|318150|318151|318156|318157|332284|332289|332303|332312|332314|333856|333860|333870|333875|333890|333901|333903|372522|373213|408725|408726|462670|462675|462681|463262|476470|476480|539330|575892|575893|791265|791266|791267|870225|870226|870227|870228|870229|870230|870231", + "text": "Cutaneous malignant melanoma 3" + }, + { + "baseId": "31969|31970|31971|31972|152817|195551|206565|227269|227270|539191|799359|799360", + "text": "Retinitis pigmentosa 49" + }, + { + "baseId": "31973|31974|175915", + "text": "Deafness, autosomal dominant 40" + }, + { + "baseId": "31975|452347|519216|608997|608998|691348|827773", + "text": "Cataract 20 multiple types" + }, + { + "baseId": "31976|31977|31978|31979|31980|31981|79354|250511|250512|250513|250514|284256|284260|284264|284266|284988|284992|284994|286973|286976|286977|287346|287347|450404|450430|517680|517797|557824|883537|883538|883539|883540|883541|883542|887246", + "text": "Cataract 4" + }, + { + "baseId": "31976|31979|284994|286973|286976|287347|557871|629319|825618", + "text": "Aculeiform cataract" + }, + { + "baseId": "31979|31987|31988|51095|79349|79352|79367|98632|137432|181456|213975|213976|213977|213978|213979|213980|213981|213982|213983|213984|213985|213986|213987|213988|213989|213990|213991|213992|213993|213994|213995|213996|213999|214000|214003|214004|214005|214006|214007|214008|214009|214010|247345|247346|247347|247348|247349|247350|247351|247352|247353|247354|247355|247356|247357|247358|251155|263198|290603|290607|291502|291503|291509|291603|294724|295105|295123|302005|302006|302022|305180|305202|309011|309887|309889|309923|309925|309926|309936|309970|350766|354065|361002|361925|361933|424444|590734|624881|625774|792692|822308", + "text": "Congenital cataract" + }, + { + "baseId": "31982", + "text": "Cataract 2, Coppock-like" + }, + { + "baseId": "31983|31984|76976|76977|76978|79367|450438|450528|450531|517682", + "text": "Cataract 2, multiple types" + }, + { + "baseId": "31985|31986|214006|257591|416851|469990|469993|573973|649232|649233|694697|694699|742835|778468|788327|849107|929421|939226|951365|951366|959041", + "text": "Cataract 23, multiple types" + }, + { + "baseId": "31987|152956|257577|337644|337645|347214|347216|347219|351223|351224|351227|351228|352237|352239|352242|470919|471407|471805|534092|620925|620926|649230|653230|694696|890960|890961|890962|890963|890964|890965|890966|890967|890968|890969|890970|890971|890972|890973|890974|890975|890976|891813", + "text": "Cataract, congenital nuclear, autosomal recessive 2" + }, + { + "baseId": "31988|31989|214002|257580|264987|470921|471806|471807|571750|656684|849105|849106|919945|919946|919947|929420|939225", + "text": "Cataract 3, multiple types" + }, + { + "baseId": "31991|79364|227387|256110|413461|467213|512267|551584|570831|645432|844840", + "text": "Cataract, congenital zonular, with sutural opacities" + }, + { + "baseId": "31992|31994|31995|38624|47566|51099|53399|53406|178210|312348|324369|565481|792582|798995|867042|867043", + "text": "Alpha-B crystallinopathy" + }, + { + "baseId": "31993|51095|51096|51097|51098|53399|53400|53401|53406|178210|312347|312350|318236|324369|325066|565481|798995|867042|867043|919317", + "text": "Cataract 16, multiple types" + }, + { + "baseId": "31996|31998|31999|79348|79349|79351|79352|79353|257472|257473|257474|336890|336900|336903|346592|346594|346604|346609|350768|350770|350771|350773|351810|351811|351813|351815|351816|351822|469654|533904|848821|886883|886884|886885|886886|886887|886888|886889", + "text": "Cataract, autosomal dominant" + }, + { + "baseId": "31997", + "text": "Cataract 9, autosomal recessive" + }, + { + "baseId": "31999|79351|79352", + "text": "Cataract, autosomal dominant, multiple types, with microcornea" + }, + { + "baseId": "32000|217218|251846|296975|296976|296982|296983|296987|296988|296991|298857|298858|298876|298877|298878|298879|298882|298883|298890|298892|298907|303179|303183|303317|303318|303320|303322|303325|303326|303328|303332|303333|303336|303344|893953|893954|893955|893956|893957|893958|893959|893960|893961|893962|893963|893964|893965|893966|893967|893968|893969|893970|893971|893972|893973|893974|893975|893976|893977|893978|918942|918943", + "text": "Craniosynostosis 2" + }, + { + "baseId": "32000|217218|296994|298886|314073|314117|320588|320659|326637|327546|521433|633760|633761", + "text": "Enlarged parietal foramina" + }, + { + "baseId": "32001|32002|32003|32004|32005|32007|251846|296975|296976|296982|296983|296987|296988|296991|298857|298858|298876|298877|298878|298879|298882|298883|298890|298892|298907|303179|303183|303317|303318|303320|303322|303325|303326|303328|303332|303333|303336|303344|454951|790538|893953|893954|893955|893956|893957|893958|893959|893960|893961|893962|893963|893964|893965|893966|893967|893968|893969|893970|893971|893972|893973|893974|893975|893976|893977|893978", + "text": "Parietal foramina 1" + }, + { + "baseId": "32006", + "text": "Parietal foramina with cleidocranial dysplasia" + }, + { + "baseId": "32008|32011", + "text": "Nicotine, poor metabolism of" + }, + { + "baseId": "32009", + "text": "CYP2A6*4A" + }, + { + "baseId": "32010", + "text": "Tegafur response" + }, + { + "baseId": "32011", + "text": "CYP2A6*3" + }, + { + "baseId": "32011", + "text": "Cyp2a6, v2" + }, + { + "baseId": "32012", + "text": "CYP2A6*12A" + }, + { + "baseId": "32013|32014|32015", + "text": "Corticosteroid-binding globulin deficiency" + }, + { + "baseId": "32017|32018|32019|32020|65604|65605|65606|65607|65608|213992|254821|254822|254823|319082|319083|319084|319085|319091|319093|319095|319097|319100|319109|319114|319116|327535|327537|327538|327539|327541|327542|327545|327561|327563|327570|333774|333778|333782|333783|333784|333787|333793|333801|333802|333804|333808|333812|333814|333818|333827|333828|333833|333840|333842|333847|333850|333852|333853|333857|333859|333861|335450|335451|335457|335463|335464|335471|335475|335493|335500|335505|335510|335511|335528|335530|335533|462598|462606|463378|463414|527510|567190|641577|641578|641579|820547|840576|870795|870796|870797|870798|870799|870800|870801|870802|870803|870804|870805|870806|870807|870808|870809|870810|870811|870812|870813|870814|870815|870816|870817|870818|870819|870820|870821|870822|870823|870824|870825|870826|870827|870828|870829|870830|936353|964402", + "text": "Zonular pulverulent cataract 3" + }, + { + "baseId": "32021|32022|32023|32024|32025|32027|32028|32030|32031|32032|32033|32036|38622|38623|94303|141185|141186|252067|298839|298842|298843|298847|298849|298860|298864|298865|301323|301326|301327|301328|301329|301331|301332|301333|305689|305692|305693|305696|305699|305700|305708|305709|305810|305819|305822|305823|305838|305857|305858|305859|305860|353742|428500|428501|428502|565358|683759|790577|895253|895254|895255|895256|895257|895258|895259|895260|895261|895262|895263|895264|895265|895266|895267|895268|895269|895270|895271|895272|895273|895274|895275|895276", + "text": "Oculodentodigital dysplasia" + }, + { + "baseId": "32024|32029|32030|32034|32035|141185|141186|199879|239879|305810|305822|359706|455825|456046|456047|456052|521345|521976|560552|563349|565358|634522|634523|831472|831473|924234|933149|933150|944864|944865", + "text": "Oculodentodigital dysplasia, autosomal recessive" + }, + { + "baseId": "32026|32030|141185|298839|298842|298843|298847|298849|298860|298864|298865|301323|301326|301327|301332|301333|305689|305692|305693|305696|305699|305709|305810|305819|305822|305823|305838|305857|305858|305859|565358|683759|895253|895254|895255|895256|895257|895258|895259|895260|895261|895262|895263|895264|895265|895266|895267|895268|895269|895270|895271|895272|895273|895274|895275|895276", + "text": "Syndactyly type 3" + }, + { + "baseId": "32029|32030|70500|141185|239781|239782|252067|298839|298842|298843|298847|298849|298860|298864|298865|301323|301326|301327|301328|301329|301331|301332|301333|305689|305692|305693|305696|305699|305700|305708|305709|305810|305819|305822|305823|305838|305857|305858|305859|305860|353742|565358|683759|895253|895254|895255|895256|895257|895258|895259|895260|895261|895262|895263|895264|895265|895266|895267|895268|895269|895270|895271|895272|895273|895274|895275|895276", + "text": "Hypoplastic left heart syndrome 1" + }, + { + "baseId": "32029|32030|360872|918994|918995", + "text": "Atrioventricular septal defect 3" + }, + { + "baseId": "32037|32037|38618|38619|38620|38621|132416|276311|276312|276313|276313|276313|276314|276315|276539|276540|276545|276946|276962|276973|276983|277009|277100|277107|277108|277111|446905|515110|556588|556629|556919|556921|556923|558102|558104|614073|619949|619950|626782|626783|626784|626785|650516|683289|818812|822671|822672|822673|822674|822675|862173|862174|862176|862177|862178|862179|862180|862181|862182|930021|941436|952055|952056", + "text": "Atrial fibrillation, familial, 11" + }, + { + "baseId": "32037|276313|276313|276314|446905|515110|556588|556629|556919|556921|556923|558102|558104|626782|626783|626784|626785|650516|683289|818812|822671|822672|822673|822674|822675|930021|941436|952055|952056", + "text": "Atrial standstill 1" + }, + { + "baseId": "32038", + "text": "Atrial fibrillation, somatic" + }, + { + "baseId": "32039|32041|32046|32049|32055|32059|32062|34237|44941|44942|44943|53882|53883|53884|53887|53888|53891|53899|53906|53910|53912|53916|53921|53922|100288|175762|175909|186432|192367|230437|319120|319122|327572|327575|327578|327579|327582|327583|327586|333862|333863|333864|335541|335544|335547|335548|335549|335550|335552|335553|335557|353285|362175|432245|620467|620469|621385|870831|870832|870833|870834|870835|870836|870837|870838|870839|870840|870841|870842|870843|870844|870845", + "text": "Hystrix-like ichthyosis with deafness" + }, + { + "baseId": "32039|32041|32042|32043|32046|32048|32049|32050|32053|32053|32055|32056|32057|32058|32062|32065|32066|32070|32075|34237|34239|38617|44941|44942|44943|44943|53882|53883|53884|53887|53888|53891|53899|53905|53906|53907|53909|53910|53912|53916|53921|53922|53927|53933|100288|169009|175762|175909|186432|192367|227135|227213|227350|230434|230437|319120|319122|327572|327575|327578|327579|327582|327583|327586|333862|333863|333864|335544|335547|335548|335549|335550|335552|335553|335557|358128|358129|358130|358131|358132|358133|358134|358135|362175|413167|413168|413169|413170|432245|511033|551725|581711|620467|620469|621385|870831|870832|870833|870834|870835|870836|870837|870838|870839|870840|870841|870842|870843|870844|870845", + "text": "Deafness, autosomal dominant 3a" + }, + { + "baseId": "32039|32041|32043|32044|32045|32046|32048|32049|32051|32053|32055|32059|32068|34241|38617|52376|53892|53904|53907|53909|53911|53916|53927|53928|100292|169011|175904|186432|186857|186864|229547|230143|230342|358134|408478|439510|439511|490937|551723|551724|551725|551726|551727|551728|792662|792663|792664|792665|861668|965617", + "text": "Hearing loss" + }, + { + "baseId": "32039|32062|53922|170211|171004|175904|358132|425880|431384|789142", + "text": "Nonsyndromic Deafness" + }, + { + "baseId": "32043|263404|590734", + "text": "Severe sensorineural hearing impairment" + }, + { + "baseId": "32043|550227|553415", + "text": "Bilateral conductive hearing impairment" + }, + { + "baseId": "32043|53210|54304|55057|55236|55237|55245|55291|55653|55658|57034|173796|174423|175230|175287|175289|192865|201048|228257|229964|230920|247044|252536|253830|256660|275808|275954|283145|283148|283152|283174|283899|283901|285701|285753|286066|288746|294822|294829|294859|299954|299983|299990|299995|299997|299999|300000|300001|300013|300016|300183|301071|301090|301098|301101|301314|301439|302642|302646|302652|302653|302654|302655|302656|302659|302669|304063|304629|307001|307019|307024|307037|307038|307039|307044|307270|307274|307282|307283|307300|307302|307303|307305|307306|307307|307312|308684|308796|308849|308861|308865|308869|308876|308933|309466|310068|310529|310535|310662|310741|310742|310745|312290|312292|312293|312294|312295|312297|312299|312300|312314|312318|312816|315094|315098|315636|315674|315906|315931|315967|315972|316006|316010|316044|316047|316048|316100|316153|318118|318119|318125|318137|318146|318158|318168|321120|321125|321177|321656|321707|321728|321749|321928|322088|322101|322102|322105|322106|322108|322109|322395|322646|322651|322653|322702|322713|322714|322725|322726|324177|324183|324187|324189|324196|324240|324947|324981|324985|324991|325652|325804|325849|327554|327557|327562|327600|327999|328005|328178|329099|329131|329139|329165|329173|329192|329209|329416|331390|335541|337361|337363|337368|337407|337410|341667|345140|346521|347050|350742|350746|353204|353205|353285|861642|861643", + "text": "Nonsyndromic Hearing Loss, Recessive" + }, + { + "baseId": "32043|176412|247076|442564|497401|551992|551993|551994|551995|551996|551997|551998|551999|552000|552001|552002|552003|552004|552005|552006|552007|552008|552009|552010|552011|552012|552013|552014|552015|552016|552017|552018|552019|552020|552021|552022|552023|552024|552025|552026|552027|800970|861136", + "text": "Deafness" + }, + { + "baseId": "32049|32051|247546|335541|353285", + "text": "Mutilating keratoderma" + }, + { + "baseId": "32049|53738|54304|57028|57034|174345|174831|175230|175746|229190|229465|229964|252536|266947|282176|282187|282319|293956|293964|295337|295339|299083|299138|299143|301071|301090|301098|301101|301717|304063|305890|306130|306147|307200|308684|308796|308849|308861|308865|308869|308876|308933|312816|313213|313221|313225|315694|315695|315696|318100|319043|319668|320414|320766|320772|322570|322598|324947|325804|325849|328178|328754|328767|329416|329627|329629|329972|329987|332262|333789|334103|335541|335774|337581|338132|338140|338146|338147|338153|344052|344054|347648|347707|349280|350256|350267|351515|351555|352507|352510|352514|352517|353204|353205|353206|353285|353304|353606|353607|353769", + "text": "Nonsyndromic Hearing Loss, Dominant" + }, + { + "baseId": "32049|620468", + "text": "GJB2-Related Disorders" + }, + { + "baseId": "32049|335541|353285", + "text": "Keratitis ichthyosis and deafness syndrome" + }, + { + "baseId": "32050|32066|361033|361034", + "text": "Hereditary palmoplantar keratoderma" + }, + { + "baseId": "32055|48180|918956", + "text": "Horseshoe kidney" + }, + { + "baseId": "32055|805096|974533", + "text": "Congenital omphalocele" + }, + { + "baseId": "32055", + "text": "Short palpebral fissure" + }, + { + "baseId": "32059|32060|32061|32067|32072|590509", + "text": "Keratitis-ichthyosis-deafness syndrome, autosomal dominant" + }, + { + "baseId": "32069|32073", + "text": "Knuckle pads, deafness AND leukonychia syndrome" + }, + { + "baseId": "32075|33288|53912|226237|226666|226667|226668|362484|362485|362486|362487|362488|513982", + "text": "Progressive sensorineural hearing impairment" + }, + { + "baseId": "32077|44257|44258|44259|44260|44261|44262|550315|816303|816304", + "text": "Type II complement component 8 deficiency" + }, + { + "baseId": "32078", + "text": "COMPLEMENT COMPONENT 8, ALPHA SUBUNIT, A/B POLYMORPHISM" + }, + { + "baseId": "32079|32080|32081|32081|32082|38614|188759|389216|512817|818239|961947", + "text": "Complement component 9 deficiency" + }, + { + "baseId": "32081|97546", + "text": "Macular degeneration, age-related, 15" + }, + { + "baseId": "32083|32084|32085|32086|32087|32088|260775|278614|278616|278622|278624|278629|278630|278725|278733|278736|278754|278755|278756|278757|278758|278770|278772|278779|278780|278786|278788|278789|279938|279947|279948|279950|279960|280016|280017|280022|280024|354159|432279|437833|496599|512796|590235|623242|707045|707046|818165|818166|818167|863367|863368|863369|863370|863371|863372|863373|863374|863375|863376|863377|863378|863379|863380|863381|863382|863383|863384|863385|863386|863387|863388|863389|865099|865100|865101", + "text": "Atypical hemolytic-uremic syndrome 2" + }, + { + "baseId": "32089|32090|32091|32092|497052|538404|614334|970889", + "text": "Complement component 5 deficiency" + }, + { + "baseId": "32093", + "text": "Liver fibrosis, susceptibility to" + }, + { + "baseId": "32094", + "text": "C4a deficiency" + }, + { + "baseId": "32095|97565", + "text": "MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO" + }, + { + "baseId": "32095", + "text": "C3S/C3F POLYMORPHISM" + }, + { + "baseId": "32095|32096|97565|97565|334455|334458|334469|334472|334475|334482|334483|334492|334494|334496|334500|334501|334503|334508|334514|334515|334517|334523|334527|344330|344330|344334|344335|344336|344339|344348|344354|344357|344360|344364|344365|344371|344373|344374|344380|344381|349443|349444|349446|349447|349449|349450|349451|349454|349457|349459|349461|349464|349467|349470|349471|349473|350429|350432|350433|350436|350441|350444|350447|350450|350452|350456|350457|350461|350462|350464|350467|350472|350475|376879|614464|622120|716757|731313|742162|742167|772939|776913|860623|882582|882583|882584|882585|882586|882587|882588|882589|882590|882591|882592|882593|882594|882595|882596|882597|882598|882599|882600|882601|882602|882603|882604|882605|882606|882607|882608|882609|882610|882611|882942|882943|882944|882945|882946|882947|882948|882949|882950|882951|882952|882953", + "text": "Age-related macular degeneration 9" + }, + { + "baseId": "32096", + "text": "C3 POLYMORPHISM, HAV 4-1 PLUS/MINUS TYPE" + }, + { + "baseId": "32096|32099|32100|32101|32102|97565|97565|198641|334455|334458|334469|334472|334475|334482|334483|334492|334494|334496|334500|334501|334503|334508|334514|334515|334517|334523|334527|344330|344330|344334|344335|344336|344339|344348|344354|344357|344360|344364|344365|344371|344373|344374|344380|344381|349443|349444|349446|349447|349449|349450|349451|349454|349457|349459|349461|349464|349467|349470|349471|349473|350429|350432|350433|350436|350441|350444|350447|350450|350452|350456|350457|350461|350462|350464|350467|350472|350475|376879|513145|590335|614464|622120|716757|731313|742162|742167|772939|776913|818342|818344|860623|882582|882583|882584|882585|882586|882587|882588|882589|882590|882591|882592|882593|882594|882595|882596|882597|882598|882599|882600|882601|882602|882603|882604|882605|882606|882607|882608|882609|882610|882611|882942|882943|882944|882945|882946|882947|882948|882949|882950|882951|882952|882953|980393", + "text": "Atypical hemolytic-uremic syndrome 5" + }, + { + "baseId": "32096|97565|97565|334455|334458|334469|334472|334475|334482|334483|334492|334494|334496|334500|334501|334503|334508|334514|334515|334517|334523|334527|344330|344330|344334|344335|344336|344339|344348|344354|344357|344360|344364|344365|344371|344373|344374|344380|344381|349443|349444|349446|349447|349449|349450|349451|349454|349457|349459|349461|349464|349467|349470|349471|349473|350429|350432|350433|350436|350441|350444|350447|350450|350452|350456|350457|350461|350462|350464|350467|350472|350475|376879|590336|614464|622120|716757|731313|742162|742167|772939|776913|818343|860623|882582|882583|882584|882585|882586|882587|882588|882589|882590|882591|882592|882593|882594|882595|882596|882597|882598|882599|882600|882601|882602|882603|882604|882605|882606|882607|882608|882609|882610|882611|882942|882943|882944|882945|882946|882947|882948|882949|882950|882951|882952|882953", + "text": "Complement component 3 deficiency, autosomal recessive" + }, + { + "baseId": "32097|32098|32103|334509|344343|344359|344383|349452|350459", + "text": "C3 deficiency" + }, + { + "baseId": "32106|32107|540577|614383|614384|614384|818300|964399|980471", + "text": "Complement component c1s deficiency" + }, + { + "baseId": "32108|32109|32110|32111|32112|434365|434366|434367|434368|512799|512800|614206|614207|624173|963120", + "text": "C1q deficiency" + }, + { + "baseId": "32114", + "text": "Esophageal carcinoma, somatic" + }, + { + "baseId": "32115|32116|185689|185690|185691|185692|185693|185694|185695|185696|185697|185698|185699|185700|185701|362052|362056|362057|550791|791867", + "text": "Mirror movements 1" + }, + { + "baseId": "32119|32126|32133|45202|45212|45234|45242|94671|94826|94837|94838|94924|95087|95218|95322|95360|95362|95460|95466|95473|95540|95665|95724|95734|95761|95792|95793|95830|95832|95854|95913|95979|95984|96029|96065|96080|96202|96238|96255|96258|96279|96367|96378|96420|96492|96564|96578|96584|98485|133027|133208|138591|150473|151109|152161|152481|152684|180033|182160|182245|231655|367409|393356|405792|416964|419364|419478|427193|432520|443423|473466|473514|483508|518396|560749|610947|610987|617377|622528|630084|630261|807302|807597|809178|826693|826706|909306|910956|943003|943028|961696|961697|961698|961699|961700|961701|961702|961703|961704|961705|961706|961707|961708|961709|961710|961711|961712|961713|961714|961715|961716|961717|961718|961719|961720|961721|961722|961723|961724|961725|961726|961727|961728|961729|961730|961731|961732|961733|961734|961735|961736|961737|961738|961739|961740|961741|961742|961743|961744|961745", + "text": "Lynch-like syndrome" + }, + { + "baseId": "32135", + "text": "Colorectal cancer, sporadic, susceptibility to" + }, + { + "baseId": "32137|50226|95904|96145|133417|139704|195467|222826|239530|394483|417649|427217|452681|483849|550664|550666|550683|550730|550738|550739|623763|624831", + "text": "Malignant tumor of colon" + }, + { + "baseId": "32146|195340|266330|267601|268580|269600|335584|335585|335586|335587|335591|335596|345354|345357|345359|350025|350026|350027|350030|351061|351064|351065|351068|351069|351072|351073|351076|620660|620661|620662|620920|705508|717012|728687|728688|728689|742439|886167|886168|886169|886170|886171|886172|886173|886174|886175|886176|886177|886178|886179|886180|887464|887465", + "text": "Metaphyseal anadysplasia 2" + }, + { + "baseId": "32147|32148|32149|32150|32151|191222|195335|267755|325733|325735|325736|325743|325749|325750|325751|325752|325756|325758|325759|325765|325777|335373|335375|335379|335383|335384|335387|335389|335392|335396|335399|335401|335404|341847|341849|341850|341854|341855|341856|341857|341858|341859|341860|341862|341863|343347|343350|343355|343358|343359|343361|343362|343365|343370|361221|489951|490882|614157|678072|714976|726688|726689|740248|740254|755242|875486|875487|875488|875489|875490|875491|875492|875493|875494|875495|875496|875497|875498|875499|875500|875501|875502|875503|875504|875505|875506|875507|875508|875509|875510|875511|875512|875513|875514|875515|875516|875517|875518|876679|903610", + "text": "Multicentric osteolysis, nodulosis and arthropathy" + }, + { + "baseId": "32153", + "text": "Pulmonary disease, chronic obstructive, rate of decline of lung function in" + }, + { + "baseId": "32153", + "text": "Epidermolysis bullosa dystrophica, autosomal recessive, modifier of" + }, + { + "baseId": "32154|32155|32156|32157|32158|38607|38608|39627|76340|76341|237151|257483|257484|257485|257486|257490|257492|257493|257494|257495|257496|257502|257503|257505|257507|257516|336945|336950|336954|336955|336967|336969|336971|336975|336980|336981|336983|336991|336993|336997|336999|337008|337009|337011|337012|337013|337014|337023|337025|337026|337028|337029|337033|337034|337044|337051|337056|337058|337066|346684|346685|346693|346704|346711|346717|346719|346723|346724|346731|346732|346733|346739|346740|346748|346769|346777|346782|346783|346784|346785|346787|346788|346796|346810|346811|346814|350824|350825|350827|350830|350831|350832|350838|350839|350842|350843|350846|350847|350850|350851|350854|350856|350859|350861|350863|350866|350867|350870|350871|350874|350875|350878|350879|350882|351867|351868|351869|351870|351871|351872|351873|351874|351875|351876|351877|351878|351879|351880|351881|351882|351883|351884|351885|351886|351887|351888|351889|351890|351891|351892|351893|390699|418973|442317|442319|442331|442333|442334|442335|508935|508936|508937|512964|539101|539163|539164|578580|583003|612199|612337|620674|654925|672300|705740|705741|788943|792012|792013|792521|800626|861045|861046|886925|886926|886927|886928|886929|886930|886931|886932|886933|886934|886935|886936|886937|886938|886939|886940|886941|886942|886943|886944|886945|886946|886947|886948|886949|886950|886951|886952|886953|886954|886955|886956|886957|886958|886959|886960|886961|886962|886963|886964|886965|886966|886967|886968|886969|886970|886971|886972|886973|886974|886975|886976|886977|886978|886979|886980|886981|887522|887523|887524|887525|887526|887527|887528|887529|887530|887531|887532|903640|903641|964549", + "text": "Knobloch syndrome 1" + }, + { + "baseId": "32159|32161|32162|32166|55719|55720|55721|55722|55723|55724|55725|55726|55727|55729|55730|55731|55732|55733|55734|55735|174359|174360|174361|174362|174365|174366|174367|174368|174370|174371|174374|174376|174497|174500|174501|174502|174506|174506|191960|193796|194635|195091|195498|195517|195770|195770|227296|229440|229442|229444|229445|229447|229448|229452|229455|229456|229461|229462|229465|229466|229470|229475|229479|252330|252334|266947|266947|270329|270741|299883|299889|299892|299895|299897|299899|299901|299904|299906|302506|302507|302508|302511|302512|302513|302522|302532|302534|302535|302536|302537|306913|306914|306916|306917|306918|306919|306922|306923|306924|306925|306926|306934|306935|307189|307191|307199|307200|307201|307202|307207|307208|307211|307213|307214|353769|368659|406861|443954|496460|496461|501733|501959|537810|538385|552434|655743|682806|682819|682820|795841|895822|895823|895824|895825|895826|895827|895828|895829|895830|895831|895832|895833|895834|895835|895836|895837|895838|895839|895840|895841|895842|895843|895844|895845|895846|895847|896225|896226|896227|896228|896229|896230|896231", + "text": "Otospondylomegaepiphyseal dysplasia, autosomal dominant" + }, + { + "baseId": "32160|32165|32167|32169|55719|55720|55721|55722|55723|55724|55725|55726|55727|55729|55730|55731|55732|55733|55734|55735|174359|174360|174361|174362|174365|174366|174367|174368|174370|174371|174374|174376|174497|174500|174501|174502|174506|174506|191960|193796|194635|195091|195498|195517|195770|227296|229440|229442|229444|229445|229447|229448|229452|229455|229456|229461|229462|229465|229466|229470|229475|229479|252330|252334|266947|266947|270329|270741|299883|299889|299892|299895|299897|299899|299901|299904|299906|302506|302507|302508|302511|302512|302513|302522|302532|302534|302535|302536|302537|306913|306914|306916|306917|306918|306919|306922|306923|306924|306925|306926|306934|306935|307189|307191|307199|307200|307201|307202|307207|307208|307211|307213|307214|353769|368659|406861|496460|496461|501733|501959|537810|552161|552434|655743|790614|790615|795841|798574|895822|895823|895824|895825|895826|895827|895828|895829|895830|895831|895832|895833|895834|895835|895836|895837|895838|895839|895840|895841|895842|895843|895844|895845|895846|895847|896225|896226|896227|896228|896229|896230|896231", + "text": "Otospondylomegaepiphyseal dysplasia, autosomal recessive" + }, + { + "baseId": "32163|32164|32166|46196|174365|174502|174506|195770|195770|227296|368659|406861|625799|800396|964275|970831", + "text": "Deafness, autosomal dominant 13" + }, + { + "baseId": "32168|170211|174502|174506|195770|215057|227296|368659|406861|622369|800396|802072|802073", + "text": "Deafness, autosomal recessive 53" + }, + { + "baseId": "32170|32174|32176|99869|99870|99871|177627|177628|192640|193940|195072|195125|195150|195180|195462|195521|195635|195937|237273|249270|249274|249277|249279|249282|249283|249285|249287|249291|249295|249297|249301|249304|268987|273644|273898|275071|275622|275645|275656|275657|275658|275659|275660|275662|275663|275664|275665|275666|275667|275668|275669|275670|275672|275673|275675|275678|275682|275683|275685|275686|275687|275688|275689|275691|275692|275693|275694|275695|275696|275697|275698|275699|275700|275701|275702|275705|275706|275707|275708|275709|275710|275713|275714|275715|275716|275717|275719|275720|275721|275722|275723|275724|275725|275726|275728|275729|275731|275734|275735|275738|275739|275741|275744|275745|275749|275753|361277|364283|364300|497934|497939|497966|537679|552029|611359|612075|612076|624845|655021|655022|731510|743655|745500|792817|861764|861765|861766|861767|861768|861769|861770|861771|861772|861773|861774|861775|861776|861777|861778|861779|861780|861781|861782|861784|861785|861786|861787|861788|861789|861790|861791|861792|861793|861794|861795|861796|861797|861798|861799|864943|864944|864946|864947|864948|864949|864950|917789|961249|961586|977165", + "text": "Stickler syndrome type 2" + }, + { + "baseId": "32172", + "text": "Marshall/Stickler syndrome" + }, + { + "baseId": "32173|32175|48375|177630|194896|194897|195521|275654|275676|275681|275684|275690|275704|275711|275712|275718|275727|275732|275740|364319|490221|917789|918538|918539|918540|918541|920116|920117|961249|961586|964641|970656|970657", + "text": "Marshall syndrome" + }, + { + "baseId": "32176|38601|38602|38603|38604|99869|99870|99871|177627|177628|177630|192640|193940|194896|194897|195072|195125|195150|195180|195462|195521|195635|195937|229456|229465|237273|249270|249274|249277|249279|249282|249283|249285|249287|249291|249295|249297|249301|249304|252334|266947|268987|273644|273898|275071|275622|275645|275654|275656|275657|275658|275659|275660|275662|275663|275664|275665|275666|275667|275668|275669|275670|275672|275673|275675|275676|275678|275681|275682|275683|275684|275685|275686|275687|275688|275689|275690|275691|275692|275693|275694|275695|275696|275697|275698|275699|275700|275701|275702|275704|275705|275706|275707|275708|275709|275710|275711|275712|275713|275714|275715|275716|275717|275718|275719|275720|275721|275722|275723|275724|275725|275726|275727|275728|275729|275731|275732|275734|275735|275738|275739|275740|275741|275744|275745|275749|275753|307200|353769|364283|364300|497934|497939|497966|513484|655021|655022|731509|731510|743655|745500|789814|789815|792817|861764|861765|861766|861767|861768|861769|861770|861771|861772|861773|861774|861775|861776|861777|861778|861779|861780|861781|861782|861784|861785|861786|861787|861788|861789|861790|861791|861792|861793|861794|861795|861796|861797|861798|861799|864943|864944|864946|864947|864948|864949|864950|961249|961586", + "text": "Fibrochondrogenesis 1" + }, + { + "baseId": "32177|32179|190383|193034|361234|377094|378137|481354|513382|513383|578577|620667|620668|677297|920419|971584", + "text": "Epiphyseal dysplasia, multiple, 3" + }, + { + "baseId": "32178|32184", + "text": "Intervertebral disc disease, susceptibility to" + }, + { + "baseId": "32180", + "text": "Epiphyseal dysplasia, multiple, 3, with myopathy" + }, + { + "baseId": "32181|32182|32183|32185|192639|193781|193938|193939|195298|249892|249893|249894|249902|249905|249906|249908|249910|249911|249913|249914|249915|249918|249919|249920|249921|249923|249926|267042|267754|275467|280498|280501|280502|280505|280506|280507|280513|280516|280917|280936|280938|280942|280944|280945|280948|280961|282242|282245|282246|282248|282261|282279|282280|282460|282461|282469|282477|282479|282480|282482|282483|282483|282485|282493|282494|282494|282495|282496|282497|404746|404746|442838|489924|538337|538337|677276|759019|792890|864365|864366|864367|864368|864369|864370|864371|864372|864373|864374|864375|864376|864377|864378|864379|864380|864381|864382|865176|865177|865178|865179|918640|970689", + "text": "Epiphyseal dysplasia, multiple, 2" + }, + { + "baseId": "32186|32187|178168", + "text": "Corneal dystrophy, Fuchs endothelial 1" + }, + { + "baseId": "32186|32187", + "text": "Corneal dystrophy, posterior polymorphous, 2" + }, + { + "baseId": 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+ "text": "Bethlem myopathy 1" + }, + { + "baseId": "32189|32190|32195|32196|32197|32199|32200|32203|32205|32207|32216|32217|32218|32219|32221|38594|38595|45577|45578|99707|99720|99730|99745|99746|99763|99764|99766|99767|99768|99796|99829|100811|100822|100838|100856|100862|100867|100868|100875|100877|100878|100885|100888|100889|100890|100897|134262|134270|134271|172217|172262|190060|191040|192311|192311|193113|204973|260941|264978|266712|268930|269203|269985|270234|272656|272740|272804|272823|272923|273883|274174|404758|443198|450899|470796|471298|488657|493510|538966|608972|612111|621016|622477|622869|622870|622925|649089|918756|918757|918758|920422|961354|964697", + "text": "Ullrich congenital muscular dystrophy 1" + }, + { + "baseId": "32201|32206|32214|32219|32220|100856", + "text": "Ullrich congenital muscular dystrophy 1, autosomal dominant" + }, + { + "baseId": "32203|99804|99805|99806|99808|99813|99815|99816|99822|99823|99827|99829|99831|99832|99833|99836|99837|99838|99846|99847|99849|99850|99852|99853|99854|99856|99857|99858|99861|99862|99863|134263|134264|172275|177169|177638|190797|191204|191784|191785|191892|193116|193274|193278|193279|193281|193284|193491|193492|257549|257572|260246|265291|265548|266421|266447|266474|266476|266535|266700|266852|267353|267567|268327|268792|269052|269213|269324|269430|269958|270283|270684|271059|272175|272318|272542|274578|274958|274959|275174|337114|337116|337120|337122|337124|337126|337128|337133|337135|337138|346846|346849|346852|346855|346863|346864|346865|346868|346875|346885|346886|350915|350917|350919|350922|350924|350925|350926|350927|350929|350930|350939|350940|350943|350944|350946|351916|351917|351919|351920|351921|351924|351926|351927|351928|351931|351936|351937|351940|351941|353597|353598", + "text": "Myosclerosis" + }, + { + "baseId": 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+ "text": "Collagen VI-related myopathy" + }, + { + "baseId": "32204|32207|172274|257554|266712|268930|272823|350920|469813|493510|493510|608973|608974|887013|919941", + "text": "Myosclerosis, autosomal recessive" + }, + { + "baseId": "32204|38598|38599", + "text": "BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE" + }, + { + "baseId": "32222|32223|32224|32225|32226|32227|32228|32229|32230|32231|32232|38593|524745|537853|637947|946472|967188|967189|967190|983673", + "text": "Ehlers-Danlos syndrome, classic type I" + }, + { + "baseId": 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43|980463", + "text": "Ehlers-Danlos syndrome, classic type" + }, + { + "baseId": "32233|192100|252474|267220|361186|443983|491272", + "text": "Multiple epiphyseal dysplasia 6" + }, + { + "baseId": "32234|171284|267220|443983|491272|919045|919046", + "text": "Stickler syndrome, type 4" + }, + { + "baseId": 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52284|557776|557778|557780|557782|557784|557786|557788|557790|557827|557829|557831|557833|557835|557837|557839|558637|559007|559009|559011|559482|559484|559486|559488|559490|559492|559494|610625|613459|614234|614235|614875|616206|616207|616214|621106|624228|629181|629182|629183|629184|629185|629186|629187|629188|629189|629190|629191|629192|629193|629194|629195|629196|629197|629198|629199|629200|629201|629202|629203|629204|629205|629206|629207|629208|629209|629210|650889|650890|650901|650921|650928|650929|650933|654237|677410|683459|683460|685127|686088|686089|689689|689692|689693|690989|759176|762722|762729|774685|778911|790137|790138|794279|795094|799270|816306|816307|819092|825468|825469|825470|825471|825472|825473|825474|825475|825476|825477|825478|825479|825480|825481|825482|825483|825484|825485|825486|825487|825488|825489|825490|825491|825492|850862|850864|851382|851384|883039|883040|883041|883042|883043|883044|883045|883046|883047|883048|883049|883050|883051|883052|883053|887219|887220|887221|887222|887223|907561|907629|907659|907660|907670|907687|907702|907715|922488|922489|922490|922491|922492|922493|922494|931054|931055|931056|931057|931058|931059|940679|940680|940681|940682|942513|942514|942515|942516|942517|942518|942519|942520|942521|952859|952860|952861|952862|952863|961257|961591|964714|965445|967168|967169|975769|983458", + "text": "Ehlers-Danlos syndrome, type 4" + }, + { + "baseId": "32244", + "text": "COLLAGEN TYPE III POLYMORPHISM" + }, + { + "baseId": "32260", + "text": "EHLERS-DANLOS SYNDROME, NONVASCULAR VARIANT" + }, + { + "baseId": "32271|32272|32289|32290|32295|32309|44596|44598|44599|44600|44604|44609|44612|44624|193366|193367|252978|252979|252980|252981|252982|252983|252984|265335|266139|267364|269223|272375|303611|303618|303621|303624|303625|303626|303634|303636|303638|303639|303647|303648|303656|307066|307071|307080|307081|307082|307099|307100|307102|307104|311941|311959|311968|311978|311983|311985|311986|311987|311988|311991|311998|312000|312001|312006|312007|312009|312011|312019|312022|312024|312025|312030|312033|359685|369301|369302|370028|414024|425770|457591|457676|457725|457734|502172|523379|623145|626173|636458|692332|722743|898519|898520|898521|898522|898523|898524|898525|898526|898527|898528|898529|898530|898531|898532|898533|898534|898535|898536|898537|898538|898539|898540|898541|898542|898543|898544|898545|898546|898547|898548|898549|898550|898551|898552|898553|898554|898555|900419|900420", + "text": "Ehlers-danlos syndrome, arthrochalasia type, 2" + }, + { + "baseId": 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1|845642|845643|845644|851165|851167|851731|851733|851735|851737|852221|852223|852226|852394|852762|852882|852883|852885|852889|852891|858311|858312|858313|877936|906202|924935|924936|924937|924938|924939|924940|924941|924942|924943|924944|924945|924946|924947|924948|924949|924950|924951|928369|928370|928371|928372|928373|928374|928375|928376|928377|928378|928379|928380|928381|928382|928383|928384|934034|934035|934036|934037|934038|934039|934040|934041|934042|934043|934044|938024|938025|938026|938027|938028|938029|938030|938031|938032|938033|938034|940884|940885|941185|941186|945795|945796|945797|945798|945799|945800|945801|945802|950027|950028|950029|950030|950031|950032|950033|950034|950035|950036|950037|950038|950039|950040|950041|950042|950043|955255|955256|955257|955258|955259|955260|955261|958187|958188|958189|958190|958191|958192|960224|960225|960226|960227|961335|964485|964486|964690|971084", + "text": "Osteogenesis imperfecta type I" + }, + { + "baseId": "32274|32282|32283|32292|32302|32303|32307|32317|32325|32327|32334|32351|32370|32380|32382|32384|32385|213575|213576|213576|271557|361022|413951|413953|413955|413957|413960|413963|413967|413971|413972|413973|413974|413978|413995|413998|414012|414016|424604|457703|624865|626173|636458|798592|861042|861043|919124|919125|919126|919127|919741|919742|919743|919744|919745|920246|920375|920376|920377|961029|964295|970242", + "text": "Osteogenesis imperfecta with normal sclerae, dominant form" + }, + { + "baseId": "32275|32286|32292|32298|32300|32304|32306|32311|32321|32322|32327|32335|32342|32351|32363|32369|32370|32371|32375|32388|213575|213576|413954|413955|413955|413956|413959|413962|413964|413965|413966|413983|413984|413991|413999|414000|414002|414031|414034|424568|511010|552120|625805|626173|636458|672333|672334|672335|672336|672337|672338|672339|672340|672341|672342|672343|672344|672345|672346|672347|672348|672349|672350|672351|970242", + "text": "Osteogenesis imperfecta type III" + }, + { + "baseId": "32276", + "text": "Osteogenesis imperfecta, mild" + }, + { + "baseId": "32277|32278|32279|32280|32281|32284|32285|32287|32288|32291|32293|32296|32301|32320|32323|32326|32328|32329|32330|32331|32332|32333|32336|32337|32338|32339|32340|32341|32345|32347|32349|32352|32353|32357|32358|32360|32362|32364|32365|32366|32368|32377|32383|49905|49906|213575|213576|213576|266139|353896|360337|417441|457721|488774|590285|636458|677285|677286|800833|971583|980381", + "text": "Osteogenesis imperfecta, recessive perinatal lethal" + }, + { + "baseId": "32289|32351|32355|32376|44560|44561|44562|44563|44564|44565|44566|44567|44568|44569|44570|44571|44572|44573|44574|44575|44576|44577|44578|44579|44580|44581|44582|44583|44584|44585|44586|44587|44588|44589|44590|44591|44592|44593|44594|44595|44596|44597|44599|44600|44601|44602|44603|44604|44605|44606|44607|44608|44609|44610|44611|44612|44613|44614|44615|44616|44617|44618|44619|44620|44621|44622|44623|44624|192612|193168|193366|193367|193768|194657|195079|213576|215539|227394|237223|252978|252979|252980|252981|252982|252983|252984|256273|256274|256275|256278|260184|260939|265335|265559|266015|266139|267364|267843|268771|269223|269476|270586|271303|272375|273413|303611|303618|303621|303624|303625|303626|303634|303636|303638|303639|303647|303648|303656|307066|307071|307080|307081|307082|307099|307100|307102|307104|311941|311959|311968|311978|311983|311985|311986|311987|311988|311991|311998|312000|312001|312006|312007|312009|312011|312019|312022|312024|312025|312030|312033|329125|329132|329142|329144|329145|329146|329147|329148|329152|339233|339234|339244|339247|339253|339256|339258|339269|339270|339272|339284|339288|339290|339292|339298|345133|345136|345137|345141|345144|345151|345154|345156|345157|345158|345159|345162|345163|345166|345170|346514|346519|346527|346528|346530|346547|346548|346549|346556|346557|346561|346565|346566|359685|369301|369302|370028|376210|376306|378450|407275|410074|413980|425770|437662|441977|441985|457591|457725|457734|468197|468432|468451|468461|486181|487364|487944|495845|506041|506210|506546|506952|523379|531261|538242|550207|574522|577015|581944|581945|581946|581947|581948|581949|581950|615942|615943|623126|623163|623348|626173|652993|679004|679005|679006|679007|679008|679009|679010|679011|679012|679013|679014|679015|679016|679017|679018|679019|679020|679021|679022|679023|679024|679941|692332|694122|694124|695759|704212|704214|715541|722743|789166|845630|858273|858274|858275|858276|858279|858280|858281|858282|858283|858284|858285|858286|858287|858289|858290|858292|858293|858294|877916|877917|877918|877919|877920|877921|877922|877923|877924|877925|877926|877927|877928|877929|877930|877931|877932|877933|877934|877935|877936|877937|877938|877939|877940|877941|877942|877943|877944|877945|880547|880548|880549|880550|898519|898520|898521|898522|898523|898524|898525|898526|898527|898528|898529|898530|898531|898532|898533|898534|898535|898536|898537|898538|898539|898540|898541|898542|898543|898544|898545|898546|898547|898548|898549|898550|898551|898552|898553|898554|898555|900419|900420", + "text": "Osteogenesis imperfecta" + }, + { + "baseId": "32294", + "text": "Osteogenesis imperfecta, atypical, with joint hypermobility" + }, + { + "baseId": "32297|45143|45144|612445", + "text": "Postmenopausal osteoporosis" + }, + { + "baseId": "32308|32310|32316|413949|976554", + "text": "COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2" + }, + { + "baseId": "32312|32313|32314|32315|32318|32319|44598|266139|636458", + "text": "Ehlers-Danlos syndrome, cardiac valvular type" + }, + { + "baseId": "32350|32378|32389|33224|44561|44568|44579|44582|44586|44594|192612|193168|193768|194657|195079|215539|227394|237223|256273|256274|256275|256278|265559|266015|266139|267843|268771|269476|270586|271303|273413|303612|303655|307094|329125|329132|329142|329144|329145|329146|329147|329148|329152|339233|339234|339244|339247|339253|339256|339258|339269|339270|339272|339284|339288|339290|339292|339298|345133|345136|345137|345141|345144|345151|345154|345156|345157|345158|345159|345162|345163|345166|345170|346514|346519|346527|346528|346530|346547|346548|346549|346556|346557|346561|346565|346566|376210|376306|378450|410074|441977|441985|468197|468451|506041|506210|506546|506952|531261|538242|574522|623348|694122|694124|695759|704212|704214|715541|845630|877916|877917|877918|877919|877920|877921|877922|877923|877924|877925|877926|877927|877928|877929|877930|877931|877932|877933|877934|877935|877936|877937|877938|877939|877940|877941|877942|877943|877944|877945|880547|880548|880549|880550|961335|961515", + "text": "Ehlers-Danlos syndrome, procollagen proteinase deficient" + }, + { + "baseId": "32354", + "text": "Osteogenesis imperfecta, type III/IV" + }, + { + "baseId": "32356", + "text": "OSTEOGENESIS IMPERFECTA, TYPE IIC" + }, + { + "baseId": "32359|32373", + "text": "Osteogenesis imperfecta type 1, mild" + }, + { + "baseId": "32365|263418", + "text": "27 conditions" + }, + { + "baseId": "32372|32379|32381", + "text": "Bone mineral density variation quantitative trait locus" + }, + { + "baseId": "32374", + "text": "Osteogenesis imperfecta type 2, thin-bone" + }, + { + "baseId": "32382", + "text": "Fragile skin" + }, + { + "baseId": "32382|263274|264319|360939|360978|513917|513990|514027|514084", + "text": "Joint hypermobility" + }, + { + "baseId": "32382", + "text": "Bruising susceptibility" + }, + { + "baseId": "32386|44561|44568|44579|44582|44586|44594|48035|192612|193168|193768|194657|195079|215539|227394|237223|256273|256274|256275|256278|265559|266015|267843|268771|269476|270586|271303|273413|311991|329115|329116|329117|329118|329119|329120|329121|329125|329132|329133|329136|329137|329142|329144|329145|329146|329147|329148|329152|339233|339234|339236|339242|339244|339247|339248|339253|339256|339258|339269|339270|339272|339284|339288|339290|339292|339298|345133|345136|345137|345141|345143|345144|345151|345153|345154|345156|345157|345158|345159|345162|345163|345166|345170|346514|346516|346519|346527|346528|346530|346533|346537|346539|346540|346545|346547|346548|346549|346556|346557|346561|346565|346566|346569|376210|376306|378450|410074|414011|441977|441985|468197|468451|506041|506210|506546|506952|531261|538242|623348|694122|694124|695759|704212|704214|715541|845630|877916|877917|877918|877919|877920|877921|877922|877923|877924|877925|877926|877927|877928|877929|877930|877931|877932|877933|877934|877935|877936|877937|877938|877939|877940|877941|877942|877943|877944|877945|880547|880548|880549|880550|961335|971083", + "text": "Infantile cortical hyperostosis" + }, + { + "baseId": "32387|360337|410071|414026", + "text": "COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1" + }, + { + "baseId": "32390|32393|32400|32405|32420|32424|193539|204429|267835|268588|270886|270894|310812|310813|310820|310829|310830|310831|310832|310842|310844|310848|310850|310852|310858|310859|310862|310864|310866|310868|310870|310878|310884|310887|310890|310892|310895|310899|310907|310918|310919|310928|310929|310930|310931|316068|316069|316072|316073|316074|316082|316090|316094|316099|316103|316111|316112|316114|316120|316133|316144|316148|316149|316156|316162|316169|316174|316175|316176|316177|316180|316181|316189|316190|316200|316201|316204|316205|316210|316220|316221|316223|316226|322169|322170|322172|322183|322185|322190|322191|322192|322196|322197|322199|322200|322212|322213|322218|322231|322232|322233|322236|322239|322240|322241|322242|322245|322246|322254|322260|322261|322266|322267|322274|322275|322276|322780|322783|322784|322785|322786|322789|322790|322801|322802|322803|322804|322806|322807|322808|322815|322816|322822|322831|322832|322845|322849|322876|322879|322880|322882|322887|322888|322890|322891|322892|322893|322894|322896|322900|338924|338933|348502|348504|348506|348515|352075|352090|352769|445013|537893|588569|615941|963164|966624", + "text": "Spondyloepiphyseal dysplasia congenita" + }, + { + "baseId": "32391|32396|32398", + "text": "Hypochondrogenesis" + }, + { + "baseId": "32392", + "text": "Namaqualand hip dysplasia" + }, + { + "baseId": "32394|32397|32399|32404|32407|32412|32413|32421|32422|32423|32434|32437|99689|99690|99691|99692|177632|192310|194050|194592|194664|195109|195632|247081|254527|254529|254530|254531|254533|254534|254535|254540|254542|254543|254545|254548|254552|254554|254555|254556|254558|254559|254562|254563|254566|267804|267844|268275|269225|270512|271988|317256|317257|317259|317260|317264|317265|317266|317270|317272|317277|317278|324975|324976|324977|324987|324995|325000|325001|325004|325007|325014|325016|325017|325018|325020|325021|325022|325023|331093|331121|331130|331131|331132|331136|331137|331156|331162|331166|331169|331171|332678|332679|332683|332685|332690|332693|373063|390689|408664|421923|445007|503887|504176|504204|504206|504216|504453|504905|511011|537881|537882|537883|537884|537886|537887|537890|537892|537894|537897|537899|584158|585420|587799|589804|612192|623309|677295|679785|769129|791237|791238|791239|791240|791241|791242|791243|798655|839947|869891|869892|869893|869894|869895|869896|869897|869898|869899|869900|869901|869902|869903|869904|869905|869906|872244|872245|872246|872247|872248|872249|956878|976030", + "text": "Stickler syndrome type 1" + }, + { + "baseId": "32401|32408|32409|32414|32415|433418|590305|612355", + "text": "Kniest dysplasia" + }, + { + "baseId": "32402|32406|32416|32417|32436|329273|353209|405614|411544|411545|411546|411547|411548|411549|443163|445013|540474|540475|540476|790195", + "text": "Spondylometaphyseal dysplasia" + }, + { + "baseId": "32403|32423|32425|32438|32439|32440|32441|624858", + "text": "Stickler syndrome, type I, nonsyndromic ocular" + }, + { + "baseId": "32405|32419|32424|32428|32430|32431|192903|818297", + "text": "Spondyloperipheral dysplasia-short ulna syndrome" + }, + { + "baseId": "32407", + "text": "Czech dysplasia, metatarsal type" + }, + { + "baseId": "32410|32411|32422|32427|32442|360944|360945|432309|433421|481353|621380|621823|672024|919435|919436|919437|920316|920317", + "text": "Achondrogenesis type II" + }, + { + "baseId": "32418", + "text": "Epiphyseal dysplasia, multiple, with myopia and conductive deafness" + }, + { + "baseId": "32422|861640", + "text": "COL2A1-related disorders" + }, + { + "baseId": "32426", + "text": "Vitreoretinopathy with phalangeal epiphyseal dysplasia" + }, + { + "baseId": "32428|32429|152979", + "text": "Platyspondylic dysplasia, Torrance type" + }, + { + "baseId": "32432|32433|38591", + "text": "Avascular necrosis of the head of femur" + }, + { + "baseId": "32432|47638|263185", + "text": "Coxa plana" + }, + { + "baseId": "32434|32435", + "text": "Rhegmatogenous retinal detachment, autosomal dominant" + }, + { + "baseId": "32443|32444|32445|32446|32447|32448|32522|32523|32523|32524|32527|32529|32531|189115|190092|215249|223747|223748|227237|227238|250592|250601|250602|250603|250620|250623|250625|250629|250632|250635|250636|250639|260782|260782|260783|272152|285700|285718|288037|288064|288464|354160|357246|357247|360796|384400|384400|384476|405642|417659|432282|432283|432284|432285|432286|434902|438587|440658|440665|440666|440667|440669|440670|440679|440682|440687|443176|443177|443180|443181|486961|491213|491213|492678|513025|513026|513039|513039|513923|541801|541802|541804|541808|541809|541810|541811|541812|541813|541819|541821|541826|541837|541839|541842|541843|541845|541846|541850|541858|541859|541860|541861|541864|541865|541867|541869|541870|541872|541878|541880|541881|541882|541884|541886|541889|541891|541893|541895|541897|541898|541901|541902|541903|541904|541906|541907|541908|541909|541911|541913|541914|541916|541918|541919|541920|541921|541922|541923|541925|541928|541929|541930|541931|541932|541933|541934|541935|541936|541938|541939|541944|541946|541948|541951|541953|541954|541956|541957|541962|541964|541966|541967|541968|541970|541972|541974|541975|541978|541981|541982|541983|541984|541985|541987|541988|541990|541991|541992|541994|541996|541997|541999|542000|542001|542002|542003|542004|542005|542007|542008|542009|542010|542010|542011|542014|542016|542017|542018|542019|542020|542021|542022|542023|542025|542028|542030|542032|542034|542036|542038|542039|542040|542043|542046|542051|542052|542054|542056|542058|542060|542062|542064|542065|542068|542071|542073|542079|542083|542094|542095|542099|542103|542106|542111|542121|542123|542125|542126|542131|542133|542135|542136|542140|542142|542157|542159|542161|542164|542166|542168|542170|542172|542177|542180|553637|576666|590250|590262|609307|611565|612080|612081|622521|622522|623263|623264|625789|790203|790204|794007|798499|798500|798501|798502|798503|798504|798505|798506|800391|801546|801556|801557|804846|825808|858522|858523|858527|858530|858540|904076|920534|922592|962671|962672|962673|962674|962675|962676|962677|962678|962679|962680|962681|962682|962683|962685|962687|962691|962825|962826|962827|962828|962829|963124|964811|970736|970737|971743|971744|971745|971746|971747|971748|971749|971750|971751|971752|971753|971754|971755|971756|971757|971758|971759|971760|971761|971762|971763|971764|971765|971766|971767|971768|971769|971770|971771|971772|971773|971774|971775|971776|971777|971778|971779|971780|971781|971782|971783|971784|971785|971786|980308|980309|980311|980560", + "text": "Alport syndrome, autosomal recessive" + }, + { + "baseId": "32445|32446|32449|32450|32523|32528|32529|223746|223749|223751|223752|223753|227238|250602|260782|354160|384400|440679|443177|491213|492678|513039|513040|541826|541837|541843|542010|553512|615935|622856|625789|825808|858524|858525|858526|858528|858529|858531|858539|918744|920171|952958|960993|960994|962684|963348|963349|963350|963351|963352|963353|964810|974566|980312", + "text": "Benign familial hematuria" + }, + { + "baseId": "32446|32523|32528|32530|32531|223748|226605|226606|226607|227238|250602|250620|250629|250632|250635|250636|250639|260782|260782|260783|260784|272152|285064|285080|285088|285089|285094|285700|285728|288002|288050|288064|288414|288415|288421|288464|354161|354162|354163|354164|354165|384400|384473|384475|384476|405643|432287|432288|432289|440679|440681|443177|443181|491213|492678|492678|513027|513028|513029|513030|513031|513032|513033|513034|513035|513037|513038|513039|513039|513040|513040|513041|513042|513043|541801|541808|541826|541850|541860|541884|541903|541913|541999|542001|542004|542010|542014|542038|542039|542043|542065|542099|553611|586060|590240|590241|590242|590243|590244|590245|590246|590247|590248|590249|590250|590251|590252|590254|590255|590256|590257|590258|590259|590260|590261|590262|590263|590264|590265|590266|590267|590268|590452|614513|623181|623253|623254|623255|623256|623257|623258|623259|623260|623261|623262|623263|623264|623265|623266|623267|623268|623269|654252|654260|654261|655430|672019|679514|733239|763019|763022|781219|790204|798504|800832|804846|818183|818184|818185|818186|818187|818188|818189|818190|818191|818192|818193|818194|818195|818196|818197|818198|818199|818200|818201|818202|818203|818204|818205|818206|818207|818208|818209|818210|818211|818212|825808|858524|858525|858526|858528|858529|858531|858539|918745|918746|918747|962686|962688|962689|962690|962692|962827|963354|980307|980310|980313|980314", + "text": "Alport syndrome 3, autosomal dominant" + }, + { + "baseId": "32451|32452|32453|32454|32455|32456|32460|32461|136540|171276|171277|171696|171697|171698|171699|190381|192972|193029|193111|193488|193489|194108|194680|194681|194704|195633|205773|254794|254795|254797|254798|254799|254800|254801|254802|254803|254805|254806|254808|254809|254810|254811|254813|254814|273865|318892|318893|318894|318895|318899|318906|318910|318911|318913|318916|318920|318921|318923|327278|327279|327289|327290|327292|327293|327294|327295|327297|327301|327304|327306|327307|327319|327322|327323|327327|327333|327334|327335|327336|333425|333434|333441|333446|333448|333454|333455|333471|333474|333481|333482|333483|333493|333499|333503|333505|333510|333515|333526|333527|333536|333537|333538|335132|335137|335147|335149|335152|335163|335173|335180|335181|335182|335183|335186|335193|335196|335197|335211|335212|335213|335223|335226|335229|335231|335235|335237|373299|408786|429479|434400|441572|552166|576156|577296|587357|693326|725365|725369|725370|738938|760068|769398|769400|784524|798665|815998|855113|870685|870686|870687|870688|870689|870690|870691|870692|870693|870694|870695|870696|870697|870698|870699|870700|870701|870702|870703|870704|870705|870706|870707|870708|870709|870710|870711|870712|870713|870714|870715|870716|872302|872303|872304|872305|919479|919480|919481|919482|919483|964856|965288|966163|970527|970543|971517|980947", + "text": "Brain small vessel disease 1 with or without ocular anomalies" + }, + { + "baseId": "32457|32458|32459|33501|33502|33503|48462|171696|190381|192972|193029|193111|193488|193489|194108|194680|194681|194704|195633|254794|254795|254797|254798|254799|254800|254801|254802|254803|254805|254806|254808|254809|254810|254811|254812|254813|254814|318892|318893|318894|318895|318899|318906|318910|318911|318913|318916|318920|318921|318923|327277|327278|327279|327289|327290|327292|327293|327294|327295|327297|327301|327304|327305|327306|327307|327319|327322|327323|327327|327333|327334|327335|327336|327337|327338|333425|333427|333434|333441|333446|333448|333454|333455|333471|333474|333481|333482|333483|333493|333496|333499|333503|333505|333510|333515|333526|333527|333536|333537|333538|333543|333546|333555|335132|335137|335147|335149|335152|335163|335173|335180|335181|335182|335183|335186|335193|335196|335197|335211|335212|335213|335223|335226|335229|335230|335231|335235|335237|335248|353263|373299|408786|441572|513327|576156|577296|587357|615944|693326|725365|725369|725370|738938|760068|769398|769400|784524|791294|798666|801890|870685|870686|870687|870688|870689|870690|870691|870692|870693|870694|870695|870696|870697|870698|870699|870700|870701|870702|870703|870704|870705|870706|870707|870708|870709|870710|870711|870712|870713|870714|870715|870716|872302|872303|872304|872305|962732|962733|962734|962735|963364", + "text": "Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps" + }, + { + "baseId": "32460|47565|139371|190381|193111|193488|193489|194680|194681|194704|195633|205773|254794|254795|254797|254798|254800|254801|254802|254803|254806|254808|254809|254810|254811|254812|254813|318892|318913|318916|327277|327279|327293|327294|327297|327304|327305|327306|327307|327322|327323|327327|327333|327335|327336|327337|327338|333425|333427|333441|333446|333448|333454|333455|333474|333481|333493|333496|333499|333503|333505|333526|333527|333543|333546|333555|335137|335147|335182|335183|335186|335193|335211|335223|335226|335229|335230|335231|335237|335248|353263|361208|576156|624862|693325|861060|977263", + "text": "Brain small vessel disease with hemorrhage" + }, + { + "baseId": "32462|32464|32465|32466|32467|32474|32482|32484|32485|32486|32488|32495|32497|32498|32499|32501|38590|166069|178859|178860|209348|217190|227262|227263|227264|251197|251203|264139|264158|264183|359454|359487|359560|359567|360853|411519|411520|411521|411522|411523|481232|481696|513263|581699|611590|612128|612188|612265|622742|677289|790400|790401|792701|792739|794091|970171|970200|970201", + "text": "Recessive dystrophic epidermolysis bullosa" + }, + { + "baseId": "32463|32477|32486|32487|32488|32489|32492|32496|32502|227262|227263|227264|295467|361178|720511|720516|720518|734129|763958|763968|763971|763975|774826|774881|781715|792739", + "text": "Generalized dominant dystrophic epidermolysis bullosa" + }, + { + "baseId": "32468|32477|792701|794091", + "text": "Pretibial epidermolysis bullosa" + }, + { + "baseId": "32469|166069", + "text": "Dominant dystrophic epidermolysis bullosa with absence of skin" + }, + { + "baseId": "32470|32471|32472|32473", + "text": "Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant" + }, + { + "baseId": "32470|32472|32479|32480|32493", + "text": "Epidermolysis bullosa pruriginosa, autosomal recessive" + }, + { + "baseId": "32475|32476|32500|38589|359584", + "text": "Transient bullous dermolysis of the newborn" + }, + { + "baseId": "32475|32482|32486|166069", + "text": "Nail disorder, nonsyndromic congenital, 8" + }, + { + "baseId": "32475|32478|32481|32494", + "text": "Epidermolysis bullosa pruriginosa, autosomal dominant" + }, + { + "baseId": "32484|32490|32491", + "text": "Epidermolysis bullosa, pretibial, autosomal recessive" + }, + { + "baseId": "32493|32501|32502|38587|38588|38590|86021|209348|227264|259767|259771|291947|295198|295238|295241|295310|295332|295334|295482|295565|359480|359486|359487|359566|359567|359584|421449|425565|443474|443477|481696|481697|494081|495459|651076|698155|708910|708911|708912|708914|708916|720512|720517|734131|734132|734133|734135|734137|734138|734139|734140|744071|748331|748333|748338|748341|748347|748349|748354|759312|759322|759329|759440|763957|763959|763963|763966|763967|763974|763976|763977|763978|763980|763987|763990|763994|774836|774838|774842|778985|779152|781697|781701|781721|787326|794091|795445|889266|889267|889269|889271|889279|889289|889297|889323|889326|903527|977844|977845|977846|977847|977848|977849|977850|977851|977852|977853|977854|977855|977856|977857|977858|977859|977860|977861|977862|977863|977864|977865|977866|977867|977868|977869|977870|977871|977872|977873|977874|977875|977876|977877|977878|977879|977880|977881|977882|977883|977884|977885|977886|977887|977888|977889|977890|977891|977892|977893|977894|977895|977896|977897|977898|977899|977900|977901|977902|977903|977904|977905|977906|977907|977908|977909|977910|977911|977912|977913|977914|977915|977916|977917|977918|977919|977920|977921|977922|977923|977924|977925|977926|977927|977928|977929|977930|977931|977932|977933|977934|977935|977936|977937|977938|977939|977940|977941|977942|977943|977944|977945|977946|977947|977948|977949|977950|977951|977952|977953|977954|977955|977956|977957|977958|977959|977960|977961|977962|977963|977964|977965|977966|977967|977968|977969|977970|977971|977972|977973|977974", + "text": "Epidermolysis bullosa dystrophica inversa, autosomal recessive" + }, + { + "baseId": "32502|360805|360853|513896|513947", + "text": "Abnormal blistering of the skin" + }, + { + "baseId": "32502|38590|251195|360852|360853|792701|794091|918837|918838|918839|918841|920196", + "text": "Epidermolysis bullosa pruriginosa" + }, + { + "baseId": "32503|32504|32505|32506|32507|32508|32509|32510|32511|32512|32513|32514|32515|32516|32517|32518|32519|32520|32521|38586|192239|252058|252059|252060|252061|265673|298776|298782|298783|298784|298786|298787|298795|298796|298811|301232|301233|301234|301240|301241|301244|301245|301246|301260|301263|305602|305603|305606|305611|305619|305630|305635|305636|305639|305640|305645|305655|305707|305710|305712|305718|305719|305720|305722|305724|305730|305731|305771|537498|538993|735369|735370|749764|788790|790575|831458|895199|895200|895201|895202|895203|895204|895205|895206|895207|895208|895209|895210|895211|895212|895213|895214|895215|895216|895217|895218|895219|895220|895221|895222|895223|918993|964266", + "text": "Metaphyseal chondrodysplasia, Schmid type" + }, + { + "baseId": "32532", + "text": "CILIARY NEUROTROPHIC FACTOR POLYMORPHISM" + }, + { + "baseId": "32533|34257|34258|34259|34260|50315|50316|50317|176969|177101|177232|178143|178144|178145|178146|195331|195671|195955|195956|195957|195958|195959|195960|195961|195962|195963|216061|216062|216063|252020|252021|252022|252023|252024|252025|252026|252027|252028|252029|252030|252031|252032|252033|252034|252035|252036|252037|252038|298213|298214|298218|298219|298229|298230|298232|298238|298239|298243|298244|298249|298250|298251|298252|298256|298258|298265|298266|298274|298275|298279|298284|298285|298290|298291|298294|298298|298299|298302|298303|298304|298305|298306|298310|300523|300528|300534|300536|300537|300546|300553|300555|300557|300559|300560|300564|300565|300570|300571|300584|300585|300587|300588|300596|300597|300618|300619|300620|300622|300623|300624|304783|304785|304787|304788|304790|304792|304793|304794|304796|304797|304798|304799|304800|304801|304808|304823|304824|304828|304838|304839|304844|304848|304858|304859|304861|304864|304865|304875|304881|304882|304885|304886|304893|304899|304902|304905|305051|305066|305070|305071|305072|305073|305077|305078|305083|305089|305094|305107|305109|305110|305115|305116|305117|305119|305120|305122|305123|489874|735244|801381|831182|831183|831184|831214|831225|831229|894774|894775|894776|894777|894778|894779|894780|894781|894782|894783|894784|894785|894786|894787|894788|894789|894790|894791|894792|894793|894794|894795|894796|894797|894798|894799|894800|894801|894802|894803|894804|894805|894806|894807|894808|894809|894810|894811|894812|894813|894814|894815|894816|894817|894818|894819|894820|894821|894822|894823|894824|894825|894826|894827|894828|894829|894830|894831|894832|894833|894834|896140|896141|896142|918981|918982", + "text": "Wagner syndrome" + }, + { + "baseId": "32534|32535|49454|49455|49456|49457|49458|140473|167983|167985|201029|201030|201034|404938|421172", + "text": "Epilepsy, nocturnal frontal lobe, type 3" + }, + { + "baseId": "32535|32537|32539|47403|49451|49459|83715|92655|99333|104193|104195|104197|104198|104199|104204|104205|104207|104208|104210|104211|104212|104213|104214|104215|104216|104217|104218|104219|104222|104227|104231|104233|134185|134186|134190|134191|134192|134193|134194|134197|140453|140456|140459|140460|140461|140462|140463|140464|140465|140468|140469|140470|140472|140473|140475|140476|140477|167982|167983|167985|177603|181175|189154|194850|194851|194853|194856|201024|201027|201029|201030|201031|201033|201039|201043|201044|202220|202222|202224|202228|202235|202240|202241|202243|202249|202252|202262|202265|202266|202268|202269|202271|203628|203631|203633|203634|203635|203636|203637|203638|203639|203640|203641|203642|203643|203645|203646|203647|203648|203649|203650|203651|203652|203653|203654|203655|203656|203658|203662|203664|203665|203670|203676|203677|203679|203683|203684|243587|249406|268660|271758|273514|275226|305036|305042|308761|359225|362228|363988|364441|364486|364505|364530|369465|369468|369896|369917|369918|369926|371793|371816|377105|377111|377129|377133|378148|378150|378158|378342|378345|379735|379736|379740|379742|390800|390805|390811|390814|390825|396147|396508|396517|396537|403671|403673|403678|403682|403683|403685|403686|404929|404930|404933|404937|407361|407362|407363|407369|410790|410791|410792|410793|410794|410795|410796|410799|410803|410804|410805|410811|421171|421172|426349|442306|442307|446280|447140|447142|447148|447228|447299|447302|457723|457736|458319|458320|458366|458369|458372|458373|458667|458676|458684|458686|458692|469429|469431|469434|470474|470477|470478|470968|470970|470974|470977|471353|471461|498051|502011|507276|507394|507395|507843|507847|508251|508253|513195|515095|515108|515109|515119|515126|515145|515226|515235|523421|523425|523428|523430|523732|523733|523987|523989|523993|523994|523995|523996|523997|533590|533595|533606|533653|533656|533659|533662|533663|533664|533666|533667|533669|533680|534172|534176|534193|536335|537008|556602|556604|556941|556943|556945|556947|556949|556951|558124|558126|558128|558130|562279|562281|562797|562808|564985|564987|564988|567749|567752|571322|571327|571332|571333|571335|571336|572952|572955|572957|573454|573583|573585|573586|573592|573594|573596|575122|575123|575124|575126|575127|575128|575129|578781|580593|580599|580658|614319|626866|626867|626868|626869|626870|626871|626872|637042|637043|637044|637045|637046|637047|637048|637049|637050|637051|637052|637053|637054|637055|637056|637057|637058|637059|637060|648782|648783|648784|648785|648786|648787|648788|648789|648790|648791|648792|648793|648794|648795|655040|655861|684000|684891|684892|685567|685568|687263|687264|689215|689217|689630|690234|694578|694579|700549|728798|751085|751086|761226|761231|761232|773194|776662|780339|783080|783082|786424|788826|821306|821307|821310|821312|821337|821338|821831|822173|822761|822762|822763|822764|822765|822766|822767|834567|834568|834569|834570|834571|834572|834573|834574|834575|834576|834577|834578|834579|834580|834581|834582|834583|834584|834585|834586|834587|848487|848488|848489|848490|848491|848492|848493|848494|848495|848496|848497|848498|848499|848500|848501|848502|848503|848504|848505|848506|848507|851195|851684|861537|921651|921652|921653|921654|921655|921656|921657|921658|921659|925147|925148|925149|925150|925151|929227|929228|929229|929230|929231|929232|929233|929234|929235|929236|930048|930049|930050|930051|930052|930053|930054|934236|934237|934238|934239|934240|939013|939014|939015|939016|939017|939018|939019|939772|941464|941465|941466|941467|941468|941469|941470|941471|941472|946007|946008|946009|946010|951132|951133|951134|951135|951137|951138|951139|951140|951141|951142|952081|952082|952083|955387|958859|958860|958861|958862|958863|958864|960321|960649", + "text": "Autosomal dominant nocturnal frontal lobe epilepsy" + }, + { + "baseId": "32536|32542", + "text": "Lung cancer susceptibility 2" + }, + { + "baseId": "32536|32542", + "text": "Smoking as a quantitative trait locus 3" + }, + { + "baseId": "32536|32542", + "text": "nicotine response - Toxicity/ADR" + }, + { + "baseId": "32537|32538|32539|49451|49452|49453|99331|99332|99336|99337|104200|104211|104230|134196|203648|203649|203656|203676|203677|203679|203679|410787|446280|446280|507271|622472|973008", + "text": "Epilepsy, nocturnal frontal lobe, type 1" + }, + { + "baseId": "32543|134185|134186|134187|134188|134189|134190|134191|140451|140452|140453|140454|140456|140457|202222|202233|202234|202235|202240|202262|202264|202266|202268|266386|273514|305017|305018|305024|305025|305026|305027|305031|305032|305035|305036|305040|305042|305044|305046|308734|308736|308738|308754|308756|308757|308758|308761|308777|308778|308780|313911|313912|313924|313926|313929|313930|313942|313945|313948|313951|313954|313955|313959|313961|313964|313971|313972|313977|313978|313982|313991|313997|313998|314001|314010|314020|314027|513196|523987|579376|614319|615938|637044|788826|899386|899387|899388|899389|899390|899391|899392|899393|899394|899395|899396|899397|899398|899399|899400|899401|899402|899403|899404|899405|899406|899407|899408|900475|919149|919150", + "text": "Epilepsy, nocturnal frontal lobe, type 4" + }, + { + "baseId": "32555|32556|32557|32558|32559|32560|32561|32562|38579|265180|323385|323386|323388|333049|333050|333056|339885|339886|339890|339897|339898|341298|341302|360206|390702|429719|620529|714598|739775|739776|754667|760362|874161|874162|874163|874164|874165|874166|874167|874168|876572|918401", + "text": "Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete" + }, + { + "baseId": "32563|32564|32566|32567|91067|325921|325925|325927|325928|325937|325938|325942|335539|335540|335542|335543|341992|341996|341999|342001|342003|342006|342008|342010|342014|342015|343500|343502|343503|343506|343508|343510|343511|343517|343522|343526|353344|353345|620556|620557|740272|875584|875585|875586|875587|875588|875589|875590|875591|875592|875593|875594|875595|875596|876686|876687", + "text": "Hyperalphalipoproteinemia 1" + }, + { + "baseId": "32564|32565", + "text": "High density lipoprotein cholesterol level quantitative trait locus 10" + }, + { + "baseId": "32568|32569", + "text": "CHOLECYSTOKININ A RECEPTOR POLYMORPHISM" + }, + { + "baseId": "32570|32570|32571|32572|32572|32573|32574|32574|32576|32577|32578|32578|32579|32580|32580|32581|32581|32582|32583|32584|32584|32585|32586|32588|33889|33892|33893|33897|33898|33899|33901|33902|33904|33904|48726|196430|198629|204362|204363|205752|205752|205753|205753|247017|247017|247018|247018|259852|264231|264308|264312|264314|264346|273241|273242|274204|274204|302027|302032|302034|302035|302037|302038|302041|302048|302056|302060|302068|305219|305220|305224|305232|305233|309984|310026|310053|310054|310060|310061|310062|310078|310079|360888|360888|368970|369251|369518|369526|369529|406988|406990|406991|406992|406993|406994|406996|406997|413762|413762|421623|425736|441037|441039|441040|441042|441044|441046|441048|441049|441050|441051|441054|441054|441056|441058|441060|441061|441063|441064|441065|441066|441067|441071|444074|444076|444077|456426|456427|456431|456431|456434|456438|456741|456745|456746|457009|457013|457447|457450|457453|457464|457465|457468|457470|457473|457474|481778|501956|502245|522350|522357|522358|522359|522367|522380|522620|522622|522627|522629|522637|522639|522719|522720|522722|522726|523080|523082|523082|523084|523094|536725|536725|561385|561387|561389|561391|561583|561584|561588|561590|561594|561610|561612|561613|561614|564144|564146|566054|566511|566513|566518|566521|566522|566523|566529|566544|576947|611675|612281|622377|624118|635806|635807|635808|635809|635810|635811|635812|635813|635814|635815|635816|635817|635818|635819|635820|635821|635822|635823|635824|635825|635826|635827|635828|635829|635830|635831|635832|635833|635834|635835|635836|635837|635838|635839|651643|651668|686977|686978|692168|692169|692170|692171|692172|692173|692174|695353|695354|699908|766138|782810|790706|790707|790707|793199|793200|793207|805525|805526|819833|833232|833233|833234|833235|833236|833237|833238|833239|833240|833241|833242|833243|833244|833245|833246|833247|833248|833249|833250|833251|833252|833253|833254|833255|833256|833257|833258|833259|833260|852070|897580|919085|920238|920239|924719|924720|924721|924722|924723|924724|924725|924726|933723|933724|933725|933726|933727|933728|933729|933730|933731|933732|933733|933734|933735|940067|940068|940069|940872|940873|945492|945493|945494|945495|945496|945497|945498|955075|955076|955077|955078|955079", + "text": "Congenital myotonia, autosomal recessive form" + }, + { + "baseId": "32570|32570|32571|32571|32572|32574|32576|32576|32577|32577|32578|32578|32580|32581|32581|32584|32584|32585|32585|32587|32588|33889|33892|33893|33897|33898|33899|33901|33902|33904|196430|198629|198629|204362|204363|205752|205752|205753|247017|247018|259852|264231|264231|264308|264312|264314|264314|264346|273241|273242|274204|302027|302032|302034|302035|302037|302038|302041|302048|302056|302060|302068|305219|305220|305224|305232|305233|309984|310026|310053|310054|310060|310061|310062|310078|310079|360888|368970|369251|369518|369526|369529|406988|406990|406991|406992|406993|406994|406996|406997|413762|421623|425736|441037|441039|441040|441042|441044|441046|441048|441049|441050|441051|441054|441056|441058|441060|441061|441063|441064|441065|441066|441067|441071|444076|444077|456426|456427|456431|456434|456438|456741|456745|456746|457009|457013|457450|457453|457464|457468|457470|457474|481778|501956|502245|513577|522350|522357|522358|522359|522367|522380|522620|522622|522627|522629|522637|522639|522719|522720|522722|522726|523080|523082|523082|523084|523094|523094|536725|561385|561387|561389|561391|561583|561584|561588|561590|561594|561610|561612|561613|561614|564144|564146|566054|566511|566513|566518|566521|566522|566523|566529|566544|576947|611675|622377|624118|635806|635807|635808|635809|635810|635811|635812|635813|635814|635815|635816|635817|635818|635819|635820|635821|635822|635823|635824|635825|635826|635827|635828|635829|635830|635831|635832|635833|635834|635835|635836|635837|635838|635839|651643|651668|686977|686978|692168|692169|692170|692171|692172|692173|692174|695353|695354|699908|766138|782810|790707|793199|793207|800398|805525|805526|819833|833232|833233|833234|833235|833236|833237|833238|833239|833240|833241|833242|833243|833244|833245|833246|833247|833248|833249|833250|833251|833252|833253|833254|833255|833256|833257|833258|833259|833260|852070|861052|924719|924720|924721|924722|924723|924724|924725|924726|933723|933724|933725|933726|933727|933728|933729|933730|933731|933732|933733|933734|933735|940067|940068|940069|940872|940873|945492|945493|945494|945495|945496|945497|945498|955075|955076|955077|955078|955079|964284|970845", + "text": "Congenital myotonia, autosomal dominant form" + }, + { + "baseId": "32571|32572|32576|32577|32578|32581|32584|32585|33889|33890|33891|33892|33893|33894|33895|33896|33897|33898|33899|33900|33901|33902|33903|33904|196430|204362|204363|205752|247017|247018|259852|264231|264314|273242|302023|302026|302027|302032|302034|302035|302037|302038|302041|302042|302045|302046|302048|302056|302060|302064|302068|305218|305219|305220|305224|305228|305230|305232|305233|305234|305245|309974|309984|309989|309993|310026|310027|310053|310054|310060|310061|310062|310073|310078|310079|310080|310082|310083|361025|368970|369251|441066|444077|456426|501892|501956|522627|564146|576937|620254|620798|635835|766139|897580|897581|897582|897583|897584|897585|897586|897587|897588|897589|897590|897591|897592|900322|900323|900324|900325|900326", + "text": "Myotonia congenita" + }, + { + "baseId": "32577", + "text": "Myotonia levior" + }, + { + "baseId": "32578|205752|360888|361024|361025|361047|513943|513969|513970|624118", + "text": "Myotonia" + }, + { + "baseId": "32584|32660|99159|360798|360803|360810|360873|361054|361094|513930", + "text": "EMG: myopathic abnormalities" + }, + { + "baseId": "32589|32590|32591|32592|32593|32594|32595|38577|38578|226408|226409|226410|226411|282965|282979|283809|283811|283815|283828|283831|283832|283835|285451|285464|285466|285468|285469|285846|285848|285849|285850|285865|550557|719420|732960|732961|762435|881631|881632|881633|881634|881635|881636|881637|881638|881639|881640|881641|881642|881643|881644|881645|881646|881647|881648|881649|881650|882855|882856|882857|918698|974510", + "text": "Duane retraction syndrome 2" + }, + { + "baseId": "32596|134687|134688|134689|141263|141264|141265|141266|141268|141269|141270|185964|210721|213533|221135|238588|283713|283721|283722|284392|284397|284398|286390|286391|286392|286761|286767|286769|286770|366829|552299|619900|883121|883122|883123|883124|883125|883126|883127|883128|883129|883130|887228", + "text": "Hereditary spastic paraplegia 13" + }, + { + "baseId": "32597|581913|781103|804829|964188", + "text": "Leukodystrophy, hypomyelinating, 4" + }, + { + "baseId": "32598|32599|32600|32601|32602|51213|51216|51217|51218|51219|51220|51221|51222|51223|51228|51285|51286|51287|51288|51289|51290|51291|51292|51294|51296|51297|51299|51301|51305|51307|51309|51310|51313|51316|51317|51318|51319|51320|51321|51322|51334|51338|134285|134286|134287|134288|134289|134290|134291|191314|191752|207060|207061|214522|269100|289089|289092|289095|289099|289100|289104|289106|289107|289116|289117|289121|289123|289124|289130|289846|289868|289880|289881|289882|289888|289889|289900|289902|289911|289912|289913|292937|292952|292959|292963|292965|292974|292976|292983|292984|292985|292987|292989|292992|292994|292997|292998|292999|293000|293001|293231|293232|293233|293236|293253|293255|293256|293265|293270|293281|293284|293289|293290|293303|293304|293321|367283|411511|424635|424636|451890|452346|452350|481112|481113|481114|481115|511462|518805|518917|518919|518923|536640|558826|559221|559357|562494|562499|620755|630990|630991|630992|630993|630994|630995|630996|630997|630998|651037|691327|695180|697883|697884|697886|781593|819338|827617|827618|827619|827620|827621|827622|827623|827624|888187|888188|888189|888190|888191|888192|888193|888194|888195|888196|888197|888198|888199|888200|888201|888202|888203|888204|888205|888206|888207|891591|891592|891593|923071|923072|931799|931800|943371|943372|943373|943374|953364", + "text": "Deficiency of ferroxidase" + }, + { + "baseId": "32598|32600|32602", + "text": "Hemosiderosis, systemic, due to aceruloplasminemia" + }, + { + "baseId": "32599", + "text": "Ceruloplasmin belfast" + }, + { + "baseId": "32601", + "text": "Hypoceruloplasminemia" + }, + { + "baseId": "32603", + "text": "Myotonic dystrophy type 2" + }, + { + "baseId": "32604", + "text": "CIP1/WAF1 TUMOR-ASSOCIATED POLYMORPHISM 1" + }, + { + "baseId": "32612|32613|32614|106597|106598|134318|134320|134321|134322|134323|134324|134325|140743|140744|140745|140746|140749|140753|140758|140762|140763|140765|202527|202532|202549|202553|202554|205409|205410|254079|266966|271803|313434|313436|313437|313438|313451|313453|313463|313465|319532|319538|319540|319554|319559|319561|319567|319568|325715|325718|325726|325730|325731|325740|325741|325746|325747|326749|326764|362445|408313|564507|867649|867650|867651|867652|867653|867654|867655|867657|867658|867659|867660|867661|867662|867663|867664|867665|867668|867669|867670", + "text": "Neuronal ceroid lipofuscinosis 10" + }, + { + "baseId": "32620|32621|46196|75719|75964|94472|139116|182970|212758|222763|240729|363111|363112|397224|401519|466629|611995|612007|612028", + "text": "Craniopharyngioma" + }, + { + "baseId": "32622", + "text": "ADRENAL CORTICAL NEOPLASM" + }, + { + "baseId": "32627|32628|363120|363121", + "text": "Disease" + }, + { + "baseId": "32630", + "text": "CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM" + }, + { + "baseId": "32630", + "text": "nicotine response - Efficacy" + }, + { + "baseId": "32630|227763", + "text": "tramadol response - Dosage, Efficacy" + }, + { + "baseId": "32630|227763", + "text": "methadone response - Dosage, Efficacy" + }, + { + "baseId": "32630|227763", + "text": "morphine response - Dosage, Efficacy" + }, + { + "baseId": "32630|227763", + "text": "opioids response - Dosage, Efficacy" + }, + { + "baseId": "32630|227763", + "text": "oxycodone response - Dosage, Efficacy" + }, + { + "baseId": "32630", + "text": "remifentanil response - Dosage, Efficacy" + }, + { + "baseId": "32630", + "text": "sufentanil response - Dosage, Efficacy" + }, + { + "baseId": "32632|32633|32634|32635|32636|32637|88451|192253|194322|195903|195904|207611|207612|253298|253301|253302|253303|306801|306802|306804|306820|310942|310944|310945|310966|310967|316538|316550|316553|316554|316555|316560|316562|316569|316788|316810|316811|316824|316825|316826|316831|316832|316843|316849|369697|428911|428912|428913|744514|751398|901053|901054|901055|901056|901057|901058|901059|901060|901061|901062|901063|901064|901065|901066|901067|901068|901069|901070|901071|901072|901073|901074|901075|901076|901077|901078|901079|901080|901081|901082|903313", + "text": "Oculocutaneous albinism type 3" + }, + { + "baseId": "32638|38575", + "text": "Acatalasemia, japanese type" + }, + { + "baseId": "32639|44479|134140|275130|578474|816469|816470|920266", + "text": "Maturity-onset diabetes of the young type 8" + }, + { + "baseId": "32641|32642", + "text": "DRUG METABOLISM, ALTERED, CES1-RELATED" + }, + { + "baseId": "32643|38574|513213|551618|919162", + "text": "Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3" + }, + { + "baseId": "32644", + "text": "Carbonic anhydrase I, Guam" + }, + { + "baseId": "32645", + "text": "Carbonic anhydrase I deficiency" + }, + { + "baseId": "32646|32647|32648|439256", + "text": "Retinitis pigmentosa 17" + }, + { + "baseId": "32649|32650|32651|44436|49464|49465|53320|53321|53325|53326|53327|53328|53329|53330|53331|53332|53333|53334|140361|172338|172338|172339|172473|172475|172476|172477|172477|188306|188317|189181|189184|189185|228262|228263|228265|238131|249369|260553|276056|276057|276063|276080|276083|276271|276272|276276|276280|276284|276300|276521|276522|276522|276523|276565|276566|276579|276581|276585|276587|276598|353050|419260|419261|419265|447185|509076|512792|512793|512794|512795|512885|789825|799103|862078|862079|862080|862081|862082|862083|862084|862085|862086|862087|862088|862089|862090|862091|864962|864963", + "text": "Ventricular tachycardia, catecholaminergic polymorphic, 2" + }, + { + "baseId": "32652|32653|32654|32655|32656|32657|32658|32659|32660|32661|33888|98315|98316|98318|98319|98321|98322|98324|98325|98327|98328|98329|98330|98331|98333|134016|134017|134018|134019|134020|134021|134022|134023|134024|177149|177281|177281|177544|177545|177546|177547|177548|177549|188862|190202|190203|190955|191312|191854|192074|192173|192611|192713|192715|192802|194262|194264|194785|204177|208194|208195|208196|213633|213634|213634|213819|213819|213820|213821|213822|213823|213824|213825|213826|213827|213828|213829|213830|213831|213832|213833|226480|255175|255176|255185|255187|255188|255189|255192|255193|255194|255195|260066|264570|264572|264718|265248|265272|265299|265318|265323|265325|265421|265491|265594|265597|265742|265926|266354|266410|266648|266731|266731|266749|266773|266860|266883|266914|266918|267020|267021|267064|267104|267110|267336|267344|267416|267488|267496|267915|267928|268228|268305|268359|268370|268392|268622|268702|268705|268752|268755|268815|268876|269020|269044|269050|269183|269375|269382|269462|269548|269577|269707|269721|269809|269817|269888|270054|270201|270285|270432|270440|270455|270714|270828|270829|270831|270852|271050|271058|271662|271686|272127|272630|272641|272663|273208|273319|273329|273484|273609|273609|273881|273911|273912|273988|273989|274501|274502|274504|274571|274572|274585|274756|274910|275363|275464|322464|331826|331827|331833|331836|331840|338820|338830|340416|340419|340420|340422|340428|340430|340431|340432|340433|340434|373432|374514|409221|409222|409226|415418|422011|422012|434904|441715|441717|463945|464214|464219|464220|464513|464764|464768|464769|465009|465010|465012|465015|465022|465025|465031|465033|465038|488339|488426|488605|488605|488606|488661|488804|489220|489257|489629|489639|489691|489691|490360|490460|490626|490627|491815|491973|492116|492147|492475|492864|493178|493352|493576|493582|494013|495326|504997|505241|505634|528778|528781|528783|528787|528794|528798|528822|529164|529168|529170|529180|529301|529309|529311|538622|538623|547418|547422|547423|547425|547434|547438|547441|547442|547443|547450|547451|547453|547473|547476|547479|547481|547486|547487|547488|547489|547490|547491|547492|547493|547495|547500|547506|547509|547694|547696|547698|547704|547705|547707|547708|547710|547712|547714|547715|547718|547721|547723|547728|547730|548021|548028|548030|548035|548036|548047|548048|548060|548061|548063|548064|548067|548068|548069|548071|548073|548078|548096|548099|548100|548102|548104|548106|548107|548109|548113|548118|548130|548136|548142|548144|551617|567015|567017|567018|568762|568766|568773|568774|568777|568795|569352|573226|573230|584266|586029|586282|586368|587991|608965|611794|620509|620867|643161|643162|643163|643164|643165|643166|643167|643168|643169|643170|643171|643172|643173|643174|643175|643176|643177|643178|643179|643180|643181|643182|643183|643184|643185|643186|643187|652388|652409|652503|652515|652643|652661|652729|652733|656289|693671|693672|693673|693674|693675|703189|703190|703192|703193|726056|726057|730990|754430|754433|754434|770147|770149|784920|784921|784922|784923|784924|784925|801724|802195|802196|802197|802198|802199|802200|802201|820695|820696|820697|820698|842293|842294|842295|842296|842297|842298|842299|842300|842301|842302|842303|842304|842305|842306|842307|842308|842309|842310|842311|842312|842313|842314|851613|873429|873430|873431|873432|873433|873434|873435|873436|873437|873438|873439|873440|873441|873442|873443|873444|873445|873446|873447|876498|927310|927311|936917|936918|936919|936920|941086|948872|948873|948874|948875|948876|948877|948878|957410|957411|957412|957413|957414|957415|957416|957417|957418|957419|957420|957421|960108|960109|960110|961322|961555|966350|972203|972204|972205|972206|972207|972208|972209|979601|979602|979603|979604|979605|979606|979607|979608|979609|979610|979611|979612|979613|979614|979615|979616|979617|980351|980837|983766", + "text": "Limb-girdle muscular dystrophy, type 2A" + }, + { + "baseId": "32653|32660|177281|213634|213819|213824|226480|266731|267496|270829|270837|270838|271368|273609|488605|489691|919569", + "text": "Muscular dystrophy, limb-girdle, autosomal dominant 4" + }, + { + "baseId": "32657", + "text": "Myositis, eosinophilic" + }, + { + "baseId": "32660|45141|45142|45433|52528|55954|56003|56066|56075|56099|56160|56406|56684|56784|56790|56956|57201|57207|57208|57212|57235|57250|57252|57274|57275|57278|57280|57281|57284|57289|71232|77677|98315|98328|98330|98331|98333|98559|98560|98561|98562|98564|98568|100165|100168|100175|100181|100182|100183|100185|100189|100190|100199|100201|100207|100212|100214|100216|100218|100222|100223|100225|100228|100229|100243|100245|100248|100253|100254|100261|100264|100269|101352|102168|102570|102574|102577|102580|133838|134016|134017|134022|134023|134392|150222|150223|172253|173313|173487|174409|174410|177548|177549|177684|178124|178128|192759|192909|193183|193611|194264|195128|196270|198172|198791|198838|199000|199203|199524|208195|228646|250783|250787|251489|254126|254830|255194|255195|265545|265920|266446|266936|267002|267104|267280|267681|267696|268176|268214|268739|268748|268817|269020|269053|269058|269367|269375|269711|269978|270059|270070|270455|270711|270831|272050|272648|272649|272665|272867|273335|273377|273720|273827|273912|274494|274907|274982|275299|275308|276591|276601|276609|276610|276614|276876|277430|277432|277433|277434|277441|277445|277446|277447|277453|277456|277461|277537|283203|283251|283302|283303|283427|283925|283957|284034|284037|284061|284064|285684|285724|285913|285986|286010|286102|286159|286333|287144|287148|287149|287157|287158|287164|287169|287171|287172|287173|287877|287896|287898|287899|287900|287903|287904|287906|287911|287912|290424|290428|290429|290430|290443|290454|290461|290463|290470|290471|290719|290721|290727|290728|290729|290742|290745|290746|290750|290759|290760|290761|290765|290767|293475|293476|293478|293479|293480|293486|293491|293493|293494|293499|293507|293508|294872|294875|294888|294889|294890|294899|294900|294902|296515|296516|296528|296529|296535|296537|296543|296544|296547|296549|296550|296551|296552|296559|296560|296561|296562|296565|296566|296570|296571|296573|296574|296576|296581|296584|296585|296589|296597|296598|296602|296603|296607|296618|296619|296624|298425|298426|298435|298442|298448|298449|298456|298457|298459|298460|298461|298462|298471|298472|298473|298477|298479|298480|298481|298482|298483|298487|298488|298489|298490|298547|298552|298560|298561|298564|298568|298569|298571|298572|298573|298574|298581|298585|298586|298590|298594|298599|298600|298618|298620|298621|298630|302528|302530|302531|302540|302541|302542|302543|302562|302564|302565|302566|302582|302583|302596|302597|302598|302599|302602|302603|302604|302605|302606|302607|302625|302802|302803|302804|302806|302807|302814|302815|302816|302817|302820|302821|302822|302823|302824|302825|302826|302827|302828|302829|302830|302831|302832|302833|302834|302836|302839|302876|302882|302886|302887|302903|302904|302905|302906|302909|302910|302911|302912|302913|302914|306582|307095|313659|313661|313662|313663|313667|313669|313673|313674|313675|313679|313680|313681|313682|313686|313691|313693|313701|313702|313704|313705|313706|313708|313709|313712|313717|313720|313725|316198|317235|317269|319224|319226|319863|319873|319874|319881|319882|319884|319886|319893|319898|319903|319906|319907|319915|319916|319925|319928|319930|319943|321513|322464|326019|326020|326023|326024|326025|326029|326031|326041|326051|326053|326059|326076|326101|326107|326108|326111|326137|326138|326139|326145|326995|326997|327003|327005|327012|327013|327018|327021|327039|327040|327044|327045|327047|327048|327050|327051|327052|327053|327710|327711|327722|327724|327754|327763|330729|330762|330775|331826|331827|331833|331836|331840|334008|334010|334017|334022|335624|335632|335639|335640|338820|338830|339410|340416|340419|340420|340428|340430|340431|340432|340433|340434|353062|353291", + "text": "Limb-Girdle Muscular Dystrophy, Recessive" + }, + { + "baseId": "32660|32660|32660|360873|361094|969271", + "text": "Shoulder girdle muscle weakness" + }, + { + "baseId": "32660|271861|514133", + "text": "Calf muscle hypertrophy" + }, + { + "baseId": "32660|265299", + "text": "Elbow flexion contracture" + }, + { + "baseId": "32660|265299", + "text": "Contractures of the joints of the lower limbs" + }, + { + "baseId": "32660|99159|101352|171050|172242|172253|191616|264319|360804|360821|361045|361046|361054|551426|676967", + "text": "Congenital muscular dystrophy" + }, + { + "baseId": "32660|99791|198685|361040|361070", + "text": "Limb-girdle muscle weakness" + }, + { + "baseId": "32660|514049", + "text": "Absent Achilles reflex" + }, + { + "baseId": "32662|32663|32664|32665|32669|33887|79970|171056|196498|196500|227189|227190|249594|249595|249599|249603|249607|249608|249609|249610|249611|249613|249615|249618|249621|249623|249624|249628|249629|249633|249635|249636|249638|249639|249640|249641|249642|249643|249644|249646|249647|249648|249649|249651|249652|249653|249655|249657|249658|249659|249660|259644|263994|263994|278356|278357|278359|278361|278362|278363|278372|278376|278379|278384|278405|278422|278423|278424|278446|278451|279473|279475|279514|279515|279518|279523|279555|279562|279563|279579|279581|279590|279605|279606|279607|279608|279611|279619|279621|279640|279646|279649|279658|279659|279661|279665|279671|279672|279675|279685|279687|279688|279689|359213|361847|361848|361849|364590|364595|364712|364714|364719|364720|364723|364732|364739|364746|364764|364767|364770|364797|364801|389351|389357|405008|405009|405010|405011|405012|413260|414755|421195|425328|438575|440422|440423|440424|440426|442691|442692|442693|442695|447385|447395|447398|447399|447402|447413|447495|447496|447498|447507|447513|447514|447516|447523|447524|447524|447528|447531|447539|447540|447594|447601|447604|447611|447612|447618|447619|447622|447627|447629|447632|447633|447635|447636|447638|447639|447640|447641|447646|447648|447654|447657|447666|447675|447676|447676|495100|498170|498172|498183|498193|498195|498205|498209|498233|498327|498361|515342|515348|515358|515360|515365|515412|515417|515420|515423|515425|515427|515431|515432|515444|515445|515449|515458|515459|515464|515465|515467|515469|515470|515471|515472|515473|515474|515476|515482|515485|515486|515491|515492|515506|515507|556738|556740|556742|556744|556746|556748|556750|556752|556752|556773|556775|556777|556779|556781|556783|556785|556787|556789|557088|557090|557092|557094|557096|557098|557100|557102|557104|557106|557108|558286|558288|558290|558292|558294|558296|558298|558300|558309|558311|558313|558315|576456|576456|582270|627230|627231|627232|627233|627234|627235|627236|627237|627238|627239|627240|627241|627242|627243|627244|627245|627246|627247|627248|627249|627250|627251|627252|627253|627254|627255|627256|627257|627258|627259|627260|627261|627262|627263|627264|627265|627266|627267|627268|627269|627270|627271|627272|627273|627274|650600|650605|650615|650716|683297|683298|683299|683300|683301|683302|685603|685604|685605|685606|685610|685613|685614|685614|685615|685617|685619|685620|685623|685624|689636|689637|689639|690442|690443|690444|690448|690450|718509|731994|745976|745982|761465|774431|780437|780438|780444|787022|794524|794532|794534|823174|823175|823176|823177|823178|823179|823180|823181|823182|823183|823184|823185|823186|823187|823188|823189|823190|823191|823192|823193|823194|823195|823196|823197|823198|823199|823200|823201|823202|823203|823204|823205|823206|823207|823208|823209|823210|823211|823212|823213|823214|823215|823216|823217|823218|823219|823220|823221|823222|851263|863247|921790|921791|921792|921793|921794|921795|921796|921797|921798|921799|921800|921801|921802|921803|930220|930221|930222|930223|930224|930225|930226|930227|930228|930229|930230|930231|930232|930233|930234|930235|930236|930237|930238|939787|939788|940614|941649|941650|941651|941652|941653|941654|941655|952205|952206|952207|952208|952209|952210|952211|952212|952213|960417|967162", + "text": "Malignant hyperthermia, susceptibility to, 5" + }, + { + "baseId": "32671|32672|32673|78452|78453|99298|99329|140315|165528|178652|188519|188526|188530|188541|188542|188551|188574|188601|188608|188610|189343|189343|194127|194567|212999|236794|236794|258742|316516|316781|316790|324234|324278|330195|330349|331685|331818|373160|398923|462107|462982|527320|551787|565361|571766|625812|625813|641055|680050|791223|791224|919425|920315|961618|980501", + "text": "Timothy syndrome" + }, + { + "baseId": "32671", + "text": "CACNA1C-Related Disorders" + }, + { + "baseId": "32673|32674|78452|188519|188526|188610|189343|236794|462107|462982|527320|565361|571766|961618|980501", + "text": "Brugada syndrome 3" + }, + { + "baseId": "32676", + "text": "Calcitonin polymorphism" + }, + { + "baseId": "32677|32678|653832|653833|788901", + "text": "Congenital hypotrichosis with juvenile macular dystrophy" + }, + { + "baseId": "32677|800604|800605", + "text": "Hypotrichosis with juvenile macular dystrophy" + }, + { + "baseId": "32679|32680|99686|106447|191010|191011|265679|267814|269265|271578|326115|326116|326117|326118|326122|326126|326127|326130|326131|326133|326153|326154|335791|335798|335800|335801|335802|335807|335815|335823|335825|335827|342153|342154|342162|342166|342170|342172|342173|342177|342178|342182|342183|342184|342185|342186|342187|342188|342191|342193|342195|343674|343676|343681|343689|343691|343693|343694|343700|343707|343709|343710|343718|343720|343723|343724|343725|343727|343730|343731|343735|343736|438013|490886|490892|513362|588790|726753|740310|755332|771010|844118|875805|875806|875807|875808|875809|875810|875811|875812|875813|875814|875815|875816|875817|875818|875819|875820|875821|875822|875823|875824|875825|875826|875827|875828|875829|875830|875831|875832|875833|876706|876707|876708|876709|919673", + "text": "EEM syndrome" + }, + { + "baseId": "32681|32682|32683|429882|791652|791653|791654|804885", + "text": "Mental retardation, autosomal dominant 3" + }, + { + "baseId": "32684|32689", + "text": "Epidermolysis bullosa, junctional, localisata variant" + }, + { + "baseId": "32698", + "text": "UCP1 POLYMORPHISM" + }, + { + "baseId": "32700|32701|32714|32714|32732|45982|46122|46150|50254|68798|68867|68894|69114|69232|69324|69436|69545|69596|69620|69706|69739|69880|69888|69923|70037|70118|70147|70247|70406|94602|97097|131092|151179|151518|180880|185052|185131|236066|242785|261965|402741|427542|478892|487936|531064|531347", + "text": "Pancreatic cancer 4" + }, + { + "baseId": "32700|32714|32732|45982|46027|46122|46150|46204|50254|68798|68801|68854|68867|68894|69114|69232|69324|69436|69545|69596|69620|69706|69739|69880|69888|69923|70037|70063|70118|70147|70247|70406|94602|97097|131092|151179|151518|185052|185131|205705|236066|242785|261965|402741|427542|478892|486720|487936|531064|531347", + "text": "Fanconi anemia, complementation group S" + }, + { + "baseId": "32710|45982|46102|46454|46545|67015|68797|69084|69166|69289|69528|70063|70235|70377|94834|102683|102720|133066|171076|171077|227553|246854|463554|550688|550695|550698|550707|550717|623687|969735", + "text": "Ovarian cancer" + }, + { + "baseId": "32716", + "text": "Pancreatic cancer, susceptibility to" + }, + { + "baseId": "32716", + "text": "Punctate palmoplantar keratoderma type 2" + }, + { + "baseId": "32736", + "text": "Memory impairment, susceptibility to" + }, + { + "baseId": "32739|32740|32742|32743|32743|38569|38570|38571|38572|38572|194351|227358|320698|329500|329506|329508|336135|463821|463821|488913|528205|693513|693513|702899|702899|725691|739238|739239|754073|871932|871933|871935|871936|871938|871939|957236|957237", + "text": "Microphthalmia with brain and digit anomalies" + }, + { + "baseId": "32741|32742|32743|32743|38570|38572|38572|194351|320698|320704|329500|329506|329507|329508|329509|336094|336096|336109|336119|336131|336135|338038|463821|463821|488913|528205|693513|702899|702899|725691|739238|739239|754073|871931|871932|871933|871934|871936|871937|871938|871939|871940|871941|957236|957237", + "text": "Orofacial cleft 11" + }, + { + "baseId": "32744|609798|614360|799655", + "text": "Common variable immunodeficiency 5" + }, + { + "baseId": "32745|32746|137571|137573|137574|137576|433403|446138|468842|470263|570810|572530|573150|573151|648144|648145|741924|772716|847730|847731|847732|847733|847734|847735|847736|847737|847738|938705|938706|950808", + "text": "Agammaglobulinemia 3, autosomal recessive" + }, + { + "baseId": "32747", + "text": "RH E/e POLYMORPHISM" + }, + { + "baseId": "32749|514288|514289|514290", + "text": "RH-NULL, AMORPH TYPE" + }, + { + "baseId": "32750", + "text": "RHD-NEGATIVE POLYMORPHISM" + }, + { + "baseId": "32751", + "text": "RhD category D-VII" + }, + { + "baseId": "32752", + "text": "Rhd, weak d, type I" + }, + { + "baseId": "32753", + "text": "BLOOD GROUP ERIK" + }, + { + "baseId": "32754|40056|791933", + "text": "Landsteiner-Wiener phenotype" + }, + { + "baseId": "32756", + "text": "KIDD BLOOD POLYMORPHISM Jk(a)/Jk(b)" + }, + { + "baseId": "32757|32758|32760", + "text": "Jk-null variant" + }, + { + "baseId": "32759", + "text": "Jk-null variant, finnish type" + }, + { + "baseId": "32761", + "text": "KELL K/k BLOOD GROUP POLYMORPHISM" + }, + { + "baseId": "32762", + "text": "KELL-NULL PHENOTYPE" + }, + { + "baseId": "32763|32765|32766", + "text": "Blood group, Gerbich system" + }, + { + "baseId": "32764", + "text": "Glycophorin c, gerbich variant" + }, + { + "baseId": "32767", + "text": "DUFFY BLOOD GROUP SYSTEM, FYA/FYB POLYMORPHISM" + }, + { + "baseId": "32769|32770|32771|32772|32773", + "text": "Blood group, Dombrock system" + }, + { + "baseId": "32774|32775|32776|32778", + "text": "ABO blood group system" + }, + { + "baseId": "32779|214524|529416|726090|842413", + "text": "Hypoproteinemia, hypercatabolic" + }, + { + "baseId": "32781", + "text": "Asthma, nocturnal, susceptibility to" + }, + { + "baseId": "32782", + "text": "ADRB2 POLYMORPHISM" + }, + { + "baseId": "32783|32784", + "text": "Beta-2-adrenoreceptor agonist, reduced response to" + }, + { + "baseId": "32785|33199", + "text": "Congestive heart failure and beta-blocker response, modifier of" + }, + { + "baseId": "32786", + "text": "Resting heart rate" + }, + { + "baseId": "32787|32788|32789|38565|335600|335602|335605|335607|335608|335613|335614|345366|345367|350034|350035|350038|350040|350044|350047|351080|351081|378249|487845|610160|620663|728697|757571|886181|886182|886183|886184|886185|886186|886187|887466|887467|887468|982221", + "text": "Hyper-IgM syndrome type 3" + }, + { + "baseId": "32790", + "text": "BLOOD GROUP--OK" + }, + { + "baseId": "32791", + "text": "Band 3 memphis" + }, + { + "baseId": "32791|32793|32795|32798|32802|32803|32804|32805|32807|32808|32810|32816|32821|32822|75388|256186|256187|256188|256190|256192|256193|256194|256195|256196|256196|256197|256198|328654|328655|328658|328667|328670|328681|328682|328683|338630|338644|338650|338651|338653|338656|338661|338663|338665|344706|344708|344710|344712|344719|344720|344722|344723|344724|344726|344727|344730|344734|346097|346103|346104|346106|346108|346110|346111|346117|346121|346122|346126|346127|346132|432335|727205|727207|740809|740810|755890|818334|845491|877685|877686|877687|877688|877689|877690|877691|877692|877693|877694|877695|877696|877697|877698|877699|877700|877701|877702|877703|877704|877705|877706|877707|877708|877709|877710|877711|877712|877713|877714|877715|877716|877717|877718|877719|877720|877721|877722|877723|877724|877725|877726|877727|877728|877729|877730|877731|877732|877733|877734|880529|880530|880531", + "text": "Autosomal dominant distal renal tubular acidosis" + }, + { + "baseId": "32791|32793|32794|32795|32797|32798|32799|32800|32801|32807|32808|32809|32812|32814|32815|32819|32821|32822|75388|256186|256187|256188|256190|256192|256193|256194|256195|256196|256196|256197|256198|328654|328655|328658|328667|328670|328681|328682|328683|338630|338644|338650|338651|338653|338656|338661|338663|338665|344706|344708|344710|344712|344719|344720|344722|344723|344724|344726|344727|344730|344734|346097|346103|346104|346106|346108|346110|346111|346117|346121|346122|346126|346127|346132|511039|535262|535263|535264|535265|535266|727205|727207|740809|740810|755890|791779|845491|877685|877686|877687|877688|877689|877690|877691|877692|877693|877694|877695|877696|877697|877698|877699|877700|877701|877702|877703|877704|877705|877706|877707|877708|877709|877710|877711|877712|877713|877714|877715|877716|877717|877718|877719|877720|877721|877722|877723|877724|877725|877726|877727|877728|877729|877730|877731|877732|877733|877734|880529|880530|880531", + "text": "Spherocytosis type 4" + }, + { + "baseId": "32792", + "text": "Ovalocytosis, southeast Asian" + }, + { + "baseId": "32795|214835|214836|214837|919731", + "text": "Hereditary cryohydrocytosis with normal stomatin" + }, + { + "baseId": "32796", + "text": "BLOOD GROUP--WALDNER TYPE" + }, + { + "baseId": "32798", + "text": "BLOOD GROUP--WRIGHT ANTIGEN" + }, + { + "baseId": "32806|32810|32811|32812|32818|256196|513221|513222|513223", + "text": "Renal tubular acidosis, distal, with hemolytic anemia" + }, + { + "baseId": "32807", + "text": "DIEGO BLOOD GROUP ANTIGEN" + }, + { + "baseId": "32813|32821", + "text": "SWANN BLOOD GROUP ANTIGEN" + }, + { + "baseId": "32817", + "text": "Renal tubular acidosis, distal, with normal red cell morphology" + }, + { + "baseId": "32820", + "text": "BLOOD GROUP--FROESE" + }, + { + "baseId": "32822", + "text": "Acanthocytosis due to band 3 ht" + }, + { + "baseId": "32822", + "text": "Acanthocytosis" + }, + { + "baseId": "32823|32824|32825|32826|190426|190426|204583|204587|267323|272459|308303|308305|308307|312693|312703|312707|312716|312717|318592|318595|318595|318597|318600|319133|319133|319141|319143|319144|319145|319145|362062|362063|362064|362065|362066|438816|459243|459543|460088|490866|511840|511840|524861|524864|524865|524865|524989|524989|563262|563263|620811|622395|638314|638315|682631|695443|700994|700995|700996|700997|700998|700998|700999|701000|737129|751704|777818|777820|777820|790910|836153|836154|836155|836156|836157|858773|858774|861211|861212|861257|861258|861259|861260|861261|861262|861263|861264|861276|861277|861278|861279|861280|902017|902018|902019|902020|902021|902022|902023|902024|902025|902026|902027|902028|902029|903402|903403|903404|903405|903406|919233|925595|925596|925597|925598|925599|955850|961023|961295|964909", + "text": "Acromesomelic dysplasia, Maroteaux type" + }, + { + "baseId": "32827|132361|238133|238133|238134|238135|390780|390781|390808|390812|447018|447106|447114|447188|447193|514998|515054|515067|556861|556881|557006|557121|626689|626690|626691|626692|818836|822595|822596|822597|822598|921601|921602|929993|929994|952032", + "text": "Atrial fibrillation, familial, 6" + }, + { + "baseId": "32828|32829|32830|32833|32834|32835|32839|315992|315993|315995|315999|316000|316001|316003|316004|316007|316009|316014|316015|316016|316023|323249|323252|323253|323254|323269|323273|323280|323281|323282|323285|323286|323288|329296|329299|329300|329303|329305|329307|329308|329314|329315|329329|329339|329341|329364|329366|330502|330503|330504|330508|330512|330517|330518|330528|330529|330534|330542|330545|330551|330554|408521|702109|791193|794041|798650|869246|869247|869248|869249|869250|869251|869252|869253|869254|869255|869256|869257|869258|869259|869260|869261|869262|869263|869264|869265|869266|869267|869268|869269|869270|869271|872187|872188|872189|872190", + "text": "Keratosis follicularis" + }, + { + "baseId": "32831|32832", + "text": "Darier disease, acral hemorrhagic type" + }, + { + "baseId": "32836|32837", + "text": "Darier disease, segmental" + }, + { + "baseId": "32838|38564|919408|920309", + "text": "Acrokeratosis verruciformis of Hopf" + }, + { + "baseId": "32840", + "text": "Deafness, autosomal recessive 12, modifier of" + }, + { + "baseId": "32841|32842|32843|32844|32845|102433|102434|102435|102436|102437|102438|102439|324938|324939|324941|324942|324944|324945|324946|324950|324951|324963|334586|334597|334609|334610|334612|334615|334617|334618|334622|334627|334630|341114|341116|341117|341118|342633|342634|342641|342645|342646|342655|374322|374323|374324|374327|374336|375056|375065|375355|375360|375361|375368|377489|409605|409608|415488|426167|426169|441893|441895|441898|445557|464825|465537|465598|465599|465612|465628|465630|466321|466323|466325|466328|466332|466343|466347|466350|466352|466353|466354|466356|466603|466605|466607|466609|466611|466621|466624|529892|529894|529896|529900|529975|529981|530214|530217|530399|530408|567489|568063|568066|568072|568074|568076|568077|570087|570092|570227|570229|570233|574013|574017|574024|577540|577541|644543|644544|644545|644546|644547|644548|644549|644550|644551|644552|644553|644554|644555|644556|644557|644558|644559|644560|644561|644562|644563|644564|644565|644566|644567|644568|644569|644570|644571|644572|644573|644574|652559|654800|693837|693838|693839|693842|693843|695686|695688|695689|714847|726557|726558|770839|785250|820820|820821|820822|843705|843706|843707|843708|843709|843710|843711|843712|843713|843714|843715|843716|843717|843718|843719|843720|843721|843722|843723|843724|843725|843726|843727|843728|851667|858305|858414|875073|875074|875075|875076|875077|875078|875079|875080|875081|875082|875083|875084|876650|927761|927762|927763|927764|927765|927766|937400|937401|937402|937403|949351|949352|949353|949354|949355|949356|957725|957726|957727|957728|957729|960153", + "text": "Brody myopathy" + }, + { + "baseId": "32847", + "text": "NAT1*17 ALLELE" + }, + { + "baseId": "32848|32849|32850|32851|32852|32853|38563|194327|198631|236936|236993|237084|303182|303185|303190|303192|306444|306452|306457|306460|306464|306465|306466|306468|306469|311343|311344|311345|311349|311350|311353|311354|311356|311457|311458|311461|311462|371156|407159|481234|508826|508827|550205|561990|561991|561994|620266|624052|636200|700133|711042|711043|736171|766308|782875|789120|789371|790726|852366|898242|898243|898244|898245|898246|898247|898248|898249|898250|898251|898252|898253|898254|898255|898256|898257|900376|900377|900378|900379|900380|900381|920242|924865|933896|933897|959858|961779|961780|965588", + "text": "Deficiency of aromatic-L-amino-acid decarboxylase" + }, + { + "baseId": "32854|32855|32856|32857|32858|32859|32860|32861|32862|32865|140767|322823|322828|322830|322833|322834|322835|322839|322848|322850|322851|322853|322854|322856|322857|322858|322860|332349|332350|332356|332357|332358|332360|332365|332369|332371|332372|332373|332376|339339|339346|339347|339351|339352|339353|339354|339355|339362|339366|339374|340785|340786|340790|340793|340803|505323|505751|620872|739675|754517|754518|754520|760347|760348|770224|770225|770227|784954|784955|784956|873769|873770|873771|873772|873773|873774|873775|873776|873777|873778|873779|873780|873781|873782|873783|873784|873785|873786|873787|873788|873789|873790|873791|873792|873793|873794|873795|873796|873797|873798|873799|873800|873801|873802|873803|873804|873805|920346|979618|979619|979620|979621|979622|979623|979624|979625|979626|979627|979628|979629|979630|979631|979632|979633|979634|979635", + "text": "Aromatase deficiency" + }, + { + "baseId": "32863|32864|32866", + "text": "Aromatase excess syndrome" + }, + { + "baseId": "32867|32868|32869|32870|32871|32872|32873|32874|32876|32877|32878|32881|32882|32883|32884", + "text": "Diabetes insipidus, nephrogenic, autosomal recessive" + }, + { + "baseId": "32875|32879|32880", + "text": "Diabetes insipidus, nephrogenic, autosomal dominant" + }, + { + "baseId": "32885", + "text": "COLTON BLOOD GROUP POLYMORPHISM" + }, + { + "baseId": "32886", + "text": "Colton-null phenotype" + }, + { + "baseId": "32887|32889|32890|32891|32892|32896|32897|32900|32901|32904|906167|961224|961225", + "text": "Familial type 3 hyperlipoproteinemia" + }, + { + "baseId": "32887|227759|538603", + "text": "atorvastatin response - Efficacy" + }, + { + "baseId": "32887|32895|215242|246297|287155|362735|434210|682121", + "text": "Hypercholesterolemia" + }, + { + "baseId": "32888", + "text": "HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5" + }, + { + "baseId": "32898", + "text": "APOE2-DUNEDIN" + }, + { + "baseId": "32899", + "text": "APOE5 VARIANT" + }, + { + "baseId": "32901", + "text": "HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON)" + }, + { + "baseId": "32903", + "text": "Alzheimer disease 2" + }, + { + "baseId": "32903|33133", + "text": "Primary degenerative dementia of the Alzheimer type, presenile onset" + }, + { + "baseId": "32903|32918|32919", + "text": "Lipoprotein glomerulopathy" + }, + { + "baseId": "32910", + "text": "APOE3(-)-FREIBURG" + }, + { + "baseId": "32913", + "text": "APOE2 VARIANT" + }, + { + "baseId": "32914", + "text": "APOE4 VARIANT" + }, + { + "baseId": "32915", + "text": "APOE4(+)" + }, + { + "baseId": "32920|32921|32922|32923|32924|32925|32926|32927|32928|32929|32931|32933|32934|32935|32937|32938|38562|133873|238613|260642|280907|280912|280921|280922|280927|280928|280943|280947|281413|281414|281421|281423|281462|281464|281482|281488|281491|281492|282654|282656|282659|282664|282680|282691|282692|282936|282952|282971|282972|282974|282976|282977|284416|284421|284513|285074|285091|285100|285117|285119|285145|285188|287248|287258|287262|287263|287276|287316|287496|287500|287501|287521|287529|287554|287575|287586|287591|434172|434174|434175|434176|434177", + "text": "Familial hypobetalipoproteinemia" + }, + { + "baseId": "32920|32929|32929|32936|32936|48709|48709|80399|80401|80402|85303|85303|85305|85310|133865|133866|133867|133868|133868|133869|133870|133870|133871|133872|133872|133873|133874|133875|178500|178500|178501|178503|178503|187184|187185|187185|187189|187189|187190|187191|196823|196823|196824|215238|215238|215239|215239|215240|215240|215242|215242|215243|215243|215244|215245|215246|215246|215247|215247|215248|215248|236950|238598|238599|238599|238600|238600|238601|238602|238603|238603|238604|238604|238605|238605|238607|238608|238608|238609|238609|238610|238610|238611|238612|238612|238613|238614|238615|238615|238616|238616|238617|238619|246909|246910|246910|246911|246914|246915|250516|250516|250517|250517|250518|250518|250519|250519|250520|250520|250521|250522|250522|250523|250523|250524|250525|250525|250526|250526|250527|250527|250528|250528|250529|250529|250530|250530|250531|250531|250532|250533|250533|260627|260627|260630|260630|260631|260633|260633|260634|260635|260636|260636|260637|260637|260643|260646|260652|265379|265379|284377|284390|284396|284400|284403|284408|284408|284413|284416|284417|284418|284418|284420|284424|284424|284426|284426|284429|284434|284434|284442|284445|284447|284450|284451|284451|284454|284454|284455|284456|284456|284465|284466|284507|284507|284513|284515|284515|284527|284527|284529|284529|284530|284530|285065|285066|285067|285067|285072|285073|285075|285075|285077|285086|285087|285090|285090|285091|285092|285092|285098|285098|285099|285119|285120|285120|285121|285122|285153|285153|285167|285193|285193|285196|285196|285207|285207|285211|285214|285218|285219|285221|287123|287134|287134|287140|287141|287142|287151|287155|287170|287185|287185|287196|287202|287206|287206|287207|287208|287208|287213|287217|287224|287224|287234|287234|287242|287245|287246|287250|287259|287262|287263|287264|287264|287276|287316|287333|287334|287334|287361|287361|287372|287372|287374|287498|287521|287522|287524|287525|287529|287532|287535|287538|287543|287559|287561|287563|287566|287572|287572|287582|287583|287586|287589|287589|287591|287592|287592|287593|287593|287601|287601|287608|287609|287610|354070|354071|354072|359413|359413|362735|362735|366106|366335|366335|366341|366341|366937|389476|389476|389479|389484|389492|389492|389497|389499|389499|389506|389506|392294|392299|392301|392377|392380|392382|392387|392470|392476|392480|392486|392487|392489|392497|392541|392541|392544|392547|392547|392555|392557|392562|414865|425004|425004|425007|425009|425011|425011|425012|425012|425464|425464|425465|427986|431948|434167|434168|434170|437671|443149|443150|443151|443152|443153|450283|450285|450290|450290|450291|450292|450296|450308|450405|450405|450421|450426|450435|450435|450437|450437|450439|450442|450442|450444|450444|450445|450445|450446|450447|450450|450456|450464|450471|450471|450478|450488|450495|450495|450498|450540|450546|450549|450551|450558|450562|450563|450570|450571|450571|450573|450573|450579|450579|450581|450581|450585|481122|483177|483188|483200|483200|483208|483210|483211|483213|483223|483225|483249|483249|483253|486938|499500|499717|499894|516314|517546|517552|517556|517558|517564|517565|517566|517568|517570|517578|517579|517587|517590|517595|517603|517608|517646|517646|517647|517658|517660|517662|517664|517666|517681|517684|517686|517687|517690|517691|517692|517694|517695|517696|517701|517701|517705|517706|517714|517721|517725|517728|517729|517730|517730|517803|517803|517805|517808|517818|517821|517828|517829|517842|517845|517848|517854|517856|517856|517858|517861|517865|517867|517869|538529|538530|538530|538531|538533|538534|538538|538552|538558|538561|538562|538562|538563|557826|557828|557830|557832|557873|557875|557877|557879|557881|557883|557885|557887|559053|559055|559057|559059|559061|559063|559065|559067|560757|560759|560768|560773|560775|560777|560798|560800|560803|585794|588441|611282|611282|616235|616235|616237|616237|616241|616247|616247|616259|616268|616268|616273|616275|616276|616277|616279|616282|616289|616294|616295|616307|616325|616330|616334|616349|616355|616355|616360|616367|616368|616373|616379|616383|616398|616399|616401|616402|616403|616404|616411|616420|616424|616425|616436|616438|616440|616456|616459|616460|616461|616464|616464|616469|616472|616473|616481|616481|616494|616514|619103|619120|629321|629322|629323|629324|629325|629326|629327|629328|629329|629330|629331|629332|629333|629334|629335|629336|629337|629338|629339|629340|629341|629342|629343|629344|629345|629346|629347|629348|629348|629349|629350|629351|655411|672392|672394|672394|683475|683475|683477|683482|683482|683483|683484|686124|686125|686126|686131|686132|686134|686135|686138|689706|691018|691019|691020|691021|707993|719572|719574|730103|747229|762836|762837|781123|781124|781124|781126|781128|795134|825619|825620|825621|825622|825623|825623|825624|825625|825626|825626|825627|825628|825629|825630|825631|825632|825633|825634|825635|825636|825637|825638|825639|825640|825641|825642|825643|850829|883593|883594|883595|883596|883597|883598|883599|883600|883601|883602|883603|883604|883605|883606|883607|883608|883609|883610|883611|883612|883613|883614|883616|883617|883618|883619|883620|883621|883622|883623|883624|883625|883626|883627|883628|883629|883630|883631|883632|883633|883634|883635|883635|883636|883637|883638|883639|883640|907794|907820|907858|907887|907942|907991|908028|908059|908162|908311|922528|922529|922530|922531|922532|922533|922534|922535|922536|922537|922538|922539|922539|922540|931085|931086|931087|931088|931089|931090|931091|931092|931093|931094|931095|931096|931097|931098|931099|931100|931101|931102|939872|940688|942571|942572|942573|942574|942575|952892|952893|952894|952895|964191|964809|970733|970734|970735", + "text": "Familial hypercholesterolemia 2" + }, + { + "baseId": "32920|32929|32929|32934|32936|48709|80399|80401|80402|85303|85303|85305|85310|133865|133866|133867|133868|133869|133870|133870|133871|133872|133873|133874|133875|178500|178503|187184|187185|187185|187189|187189|187190|187191|196823|196823|196824|215238|215239|215239|215240|215240|215242|215242|215243|215244|215245|215246|215246|215247|215247|215248|215248|228912|236950|238598|238599|238599|238600|238600|238601|238602|238603|238603|238604|238604|238605|238606|238607|238608|238608|238609|238609|238610|238610|238611|238612|238612|238613|238614|238615|238616|238616|238617|238618|238619|246909|246910|246910|246911|246914|246915|250516|250516|250517|250517|250518|250519|250519|250520|250520|250521|250522|250522|250523|250524|250525|250525|250526|250527|250527|250528|250528|250529|250529|250530|250530|250531|250531|250532|250533|250533|260627|260630|260630|260631|260633|260633|260634|260635|260636|260637|260637|260643|260646|265379|265379|284377|284390|284396|284400|284403|284408|284408|284413|284416|284417|284418|284418|284420|284424|284424|284426|284426|284429|284434|284434|284442|284445|284447|284450|284451|284451|284454|284454|284455|284456|284456|284465|284466|284507|284507|284513|284515|284515|284527|284527|284529|284529|284530|284530|285065|285066|285067|285067|285072|285073|285075|285075|285077|285086|285087|285090|285090|285091|285092|285092|285098|285098|285099|285119|285120|285120|285121|285122|285153|285153|285167|285193|285193|285196|285196|285207|285207|285211|285214|285218|285219|285221|287123|287134|287134|287140|287141|287142|287151|287155|287170|287185|287185|287196|287202|287206|287206|287207|287208|287208|287213|287217|287224|287224|287234|287234|287242|287245|287246|287250|287259|287262|287263|287264|287264|287276|287316|287333|287334|287334|287361|287361|287372|287372|287374|287498|287521|287522|287524|287525|287529|287532|287535|287538|287543|287559|287561|287563|287566|287572|287572|287582|287583|287586|287589|287589|287591|287592|287592|287593|287593|287601|287601|287608|287609|287610|354070|354071|354072|359413|359413|361171|362735|362735|366106|366335|366341|366341|366937|389476|389484|389492|389492|389497|389499|389499|389506|392294|392299|392301|392301|392377|392380|392382|392387|392470|392476|392480|392486|392487|392489|392497|392541|392541|392544|392547|392547|392554|392555|392557|392562|414865|425004|425004|425007|425009|425009|425011|425011|425012|425012|425464|425465|427986|427986|431948|434167|434168|434170|443149|443150|443151|443152|443153|450283|450285|450290|450290|450291|450292|450296|450308|450405|450405|450421|450426|450435|450435|450437|450437|450439|450442|450442|450444|450444|450445|450445|450446|450447|450450|450456|450464|450471|450471|450478|450483|450488|450492|450495|450495|450498|450540|450546|450549|450551|450558|450562|450563|450570|450571|450571|450573|450573|450579|450579|450581|450581|450585|481122|483177|483188|483200|483200|483208|483210|483211|483213|483223|483225|483249|483249|483253|486938|499500|499717|499894|516314|517546|517552|517556|517558|517564|517565|517566|517568|517570|517578|517579|517587|517590|517595|517603|517608|517646|517646|517647|517658|517660|517662|517664|517666|517681|517684|517686|517687|517690|517691|517692|517694|517695|517696|517701|517701|517705|517705|517706|517714|517721|517725|517728|517729|517730|517730|517803|517803|517805|517808|517818|517821|517828|517829|517842|517845|517848|517854|517856|517856|517858|517861|517865|517867|517869|538529|538530|538530|538531|538533|538534|538538|538552|538558|538561|538562|538562|538563|557826|557828|557830|557832|557873|557875|557877|557879|557881|557883|557885|557887|559053|559055|559057|559059|559061|559063|559065|559067|560757|560759|560768|560773|560775|560777|560798|560800|560803|585794|588441|611282|611282|616235|616235|616237|616237|616241|616247|616247|616259|616268|616268|616273|616275|616276|616276|616277|616279|616282|616289|616294|616295|616307|616325|616330|616334|616346|616349|616355|616355|616360|616367|616368|616373|616379|616383|616398|616399|616401|616402|616403|616404|616411|616420|616424|616425|616436|616438|616456|616460|616461|616463|616464|616464|616469|616472|616473|616481|616481|616494|616514|619103|619120|619120|629321|629322|629323|629324|629325|629326|629327|629328|629329|629330|629331|629332|629333|629334|629335|629336|629337|629338|629339|629340|629341|629342|629343|629344|629345|629346|629347|629348|629348|629349|629350|629351|655411|672392|672394|683475|683475|683477|683482|683482|683483|683484|686124|686125|686126|686131|686132|686134|686135|686138|689706|691018|691019|691020|691021|707993|719572|719574|730103|747229|762836|762837|781123|781124|781124|781126|781128|795134|815841|815842|815843|825619|825620|825621|825622|825623|825623|825624|825625|825626|825626|825627|825628|825629|825630|825631|825632|825633|825634|825635|825636|825637|825638|825639|825640|825641|825642|825643|850829|883593|883594|883595|883596|883597|883598|883599|883600|883601|883602|883603|883604|883605|883606|883607|883608|883609|883610|883611|883612|883613|883616|883617|883618|883619|883620|883621|883622|883623|883624|883625|883626|883627|883628|883629|883630|883631|883632|883633|883634|883635|883635|883636|883637|883638|883639|883640|906165|907794|907858|907887|907942|907991|908059|908162|908214|908311|918731|918732|922528|922529|922530|922531|922532|922533|922534|922535|922536|922537|922538|922539|922540|931085|931086|931087|931088|931089|931090|931091|931092|931093|931094|931095|931096|931097|931098|931099|931100|931101|931102|939872|940688|942571|942572|942573|942574|942575|952892|952893|952894|952895", + "text": "Hypobetalipoproteinemia, familial, 1" + }, + { + "baseId": "32930", + "text": "APOB POLYMORPHISM IN SIGNAL PEPTIDE" + }, + { + "baseId": "32932|32939|32940", + "text": "Hypobetalipoproteinemia, normotriglyceridemic" + }, + { + "baseId": "32941", + "text": "Apolipoprotein c-iii, nonglycosylated" + }, + { + "baseId": "32942|32943|143193|143194|143195|508859", + "text": "Hyperalphalipoproteinemia 2" + }, + { + "baseId": "32944", + "text": "APOLIPOPROTEIN A-IV POLYMORPHISM, APOA4*1/APOA4*2" + }, + { + "baseId": "32945", + "text": "APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*0" + }, + { + "baseId": "32946", + "text": "APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*3" + }, + { + "baseId": "32947", + "text": "APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*5" + }, + { + "baseId": "32948", + "text": "APOLIPOPROTEIN A-I (MILANO)" + }, + { + "baseId": "32949", + "text": "APOLIPOPROTEIN A-I (GIESSEN)" + }, + { + "baseId": "32950", + "text": "APOLIPOPROTEIN A-I (MARBURG)" + }, + { + "baseId": "32951", + "text": "APOLIPOPROTEIN A-I (MUNSTER4)" + }, + { + "baseId": "32952", + "text": "APOLIPOPROTEIN A-I (NORWAY)" + }, + { + "baseId": "32953", + "text": "APOLIPOPROTEIN A-I (MUNSTER3C)" + }, + { + "baseId": "32954", + "text": "APOLIPOPROTEIN A-I (MUNSTER3B)" + }, + { + "baseId": "32955|32958|32960|32961|32965|32968", + "text": "Apolipoprotein A-I deficiency" + }, + { + "baseId": "32956", + "text": "Familial amyloid polyneuropathy, Iowa type" + }, + { + "baseId": "32957", + "text": "Apolipoproteins a-i and c-iii, combined deficiency of" + }, + { + "baseId": "32957", + "text": "High density lipoprotein deficiency, Detroit type" + }, + { + "baseId": "32959", + "text": "APOLIPOPROTEIN A-I (BALTIMORE)" + }, + { + "baseId": "32969", + "text": "Hypoalphalipoproteinemia, primary, 2" + }, + { + "baseId": "32970|32971", + "text": "Amyloidosis, cardiac and cutaneous" + }, + { + "baseId": "32974", + "text": "APOLIPOPROTEIN A-II DEFICIENCY, FAMILIAL, DUE TO APOA-II (HIROSHIMA)" + }, + { + "baseId": "32976|32977|32978|32979|32980|33504|33505|190138|190139|511616|513960|537794|537795|537796|537797|537798|537799|537800|537801|537802|537803|550600|790571|798565|818137|918988|961513|969748|970818", + "text": "Branchiooculofacial syndrome" + }, + { + "baseId": "32981|32982|32983|32984|32985|32986|32987|32988|32989|32990|38561|45034|45037|45038|116887|116889|116890|116891|116895|116928|205148|299195|299200|299201|299203|299204|301613|301614|301617|301624|301627|301629|301632|301633|305998|306000|306006|306024|306029|306030|306032|306314|332889|343076|348405|455399|455403|487189|512878|512881|521447|521454|521455|521730|521790|521799|522040|522044|560471|560606|560608|565449|614297|614297|620217|621747|634643|634644|634645|634646|634647|634648|634649|634649|634650|634651|634652|634653|634654|634655|651529|710193|721734|721735|721736|735434|735435|749834|765507|782458|782459|790593|790594|790595|818387|818388|819643|831610|831611|831612|831613|831614|831615|831616|831617|852014|895459|895460|895461|895462|895463|895464|895465|895466|895467|895468|895469|895470|895471|895472|895473|895474|895475|895476|895477|895478|924266|924267|924268|924269|924270|924271|924272|944901|944902|944903|954382|954383|954384|954385|980456", + "text": "Disseminated atypical mycobacterial infection" + }, + { + "baseId": "32986|32991|32993|205148|614297|634649|980456", + "text": "Immunodeficiency 27b" + }, + { + "baseId": "32986", + "text": "IFN-gamma receptor 1 deficiency" + }, + { + "baseId": "32992|980456", + "text": "Helicobacter pylori infection, susceptibility to" + }, + { + "baseId": "32994|32995", + "text": "PI M1-ALA213" + }, + { + "baseId": "32994", + "text": "PI, M1A" + }, + { + "baseId": "32994|32996|32997|33000|33001|33002|33003|33004|33005|33006|33006|33008|33008|33009|33010|33010|33011|33013|33014|33015|33016|33018|33019|33021|33022|33024|33025|33026|33031|33032|175951|176094|176095|186924|186925|186926|186927|194290|214472|221042|221043|221044|221045|221046|221047|221048|221049|221050|221051|221052|221053|221054|221055|221056|221057|221058|221059|221060|255114|255115|270546|272333|272693|273372|273566|275216|321835|321837|321838|321840|321844|321853|321854|321855|321856|321860|321861|321865|331140|331143|331146|331148|331149|331150|331152|331154|331157|331158|331161|331164|331168|331170|331174|337935|337949|337952|337959|337963|337965|337970|337989|337992|337993|339920|339924|339926|339931|339935|339939|339940|339943|339945|339948|339952|353313|354274|358271|358272|358273|358274|358275|358276|415410|434114|434115|434116|434117|434118|434119|434120|434121|434122|434123|434124|434126|434127|437676|437677|437678|437679|437680|437681|437682|437683|437684|437685|437686|464171|464192|490674|492173|492765|493455|547383|547456|547458|547460|547945|584517|585153|585525|586517|614632|614633|614634|614635|614636|614637|614638|614639|614640|620499|620500|679858|679859|679860|688374|688375|688377|688378|690092|690093|693619|841913|872966|872967|872968|872969|872970|872971|872972|872973|872974|872975|872976|872977|872978|872979|872980|872981|872982|872983|872984|872985|872986|872987|872988|872989", + "text": "Alpha-1-antitrypsin deficiency" + }, + { + "baseId": "32995", + "text": "PI, M1V" + }, + { + "baseId": "32996", + "text": "PI M2" + }, + { + "baseId": "32996", + "text": "PI M4" + }, + { + "baseId": "32997", + "text": "PI M3" + }, + { + "baseId": "32999", + "text": "PI B(ALHAMBRA)" + }, + { + "baseId": "33000", + "text": "PI F" + }, + { + "baseId": "33001", + "text": "PI P(ST. ALBANS)" + }, + { + "baseId": "33002", + "text": "PI X" + }, + { + "baseId": "33003", + "text": "PI CHRISTCHURCH" + }, + { + "baseId": "33004", + "text": "PI M(HEERLEN)" + }, + { + "baseId": "33005", + "text": "PI M(MINERAL SPRINGS)" + }, + { + "baseId": "33006", + "text": "PI Z" + }, + { + "baseId": "33006", + "text": "PI Z(AUGSBURG)" + }, + { + "baseId": "33006", + "text": "PI Z(TUN)" + }, + { + "baseId": "33006|33006|33008|33010|682501|682502|682503|682504|682505|682506|682507|858301|858302|858303", + "text": "Chronic obstructive pulmonary disease" + }, + { + "baseId": "33008", + "text": "PI S" + }, + { + "baseId": "33009", + "text": "PI Z(WREXHAM)" + }, + { + "baseId": "33010", + "text": "PI M(PROCIDA)" + }, + { + "baseId": "33012", + "text": "PI NULL(HONG KONG 2)" + }, + { + "baseId": "33013", + "text": "PI I" + }, + { + "baseId": "33014", + "text": "PI P(LOWELL)" + }, + { + "baseId": "33014", + "text": "PI NULL(CARDIFF)" + }, + { + "baseId": "33014", + "text": "PI Q0(CARDIFF)" + }, + { + "baseId": "33014", + "text": "PI P(DUARTE)" + }, + { + "baseId": "33015", + "text": "PI Q0(GRANITE FALLS)" + }, + { + "baseId": "33016", + "text": "PI NULL(BELLINGHAM)" + }, + { + "baseId": "33016", + "text": "PI Q0(BELLINGHAM)" + }, + { + "baseId": "33017", + "text": "PI NULL(MATTAWA)" + }, + { + "baseId": "33018", + "text": "PI NULL(PROCIDA)" + }, + { + "baseId": "33019", + "text": "PI NULL(HONG KONG 1)" + }, + { + "baseId": "33019", + "text": "PI Q0(HONG KONG 1)" + }, + { + "baseId": "33020", + "text": "PI NULL(BOLTON)" + }, + { + "baseId": "33020", + "text": "PI Q0(BOLTON)" + }, + { + "baseId": "33021", + "text": "Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation" + }, + { + "baseId": "33022", + "text": "PI V(MUNICH)" + }, + { + "baseId": "33024", + "text": "PI W(BETHESDA)" + }, + { + "baseId": "33025", + "text": "PI NULL(DEVON)" + }, + { + "baseId": "33025", + "text": "PI Q0(DEVON)" + }, + { + "baseId": "33025", + "text": "PI NULL(NEWPORT)" + }, + { + "baseId": "33025", + "text": "PI Q0(NEWPORT)" + }, + { + "baseId": "33026", + "text": "PI NULL(LUDWIGSHAFEN)" + }, + { + "baseId": "33026", + "text": "PI Q0(LUDWIGSHAFEN)" + }, + { + "baseId": "33027", + "text": "PI NULL(RIEDENBURG)" + }, + { + "baseId": "33031", + "text": "PI S(IIYAMA)" + }, + { + "baseId": "33032", + "text": "PI Z(BRISTOL)" + }, + { + "baseId": "33033|33034|33035|33036|33037|33038|33039|33040|33041|133794|133795|133796|133797|133798|135660|140071|140073|140076|140078|140079|140081|140082|191988|194882|195288|201802|201803|201805|201808|201809|201816|201818|201819|201820|201821|201822|201823|201824|201827|201829|201830|201832|201833|201836|201837|201840|201842|201843|201846|201847|207150|207151|207152|221553|221554|221555|239636|251612|259803|259805|259807|264223|268025|271298|273031|295016|295023|295025|295026|295027|295033|295034|295042|295043|295044|295045|295051|295062|295064|295071|295075|295076|295079|295080|295085|296784|296785|296790|296815|296834|296844|296854|296855|296862|296863|296864|296868|296870|296877|296898|296902|296903|296904|300521|300526|300529|300530|300533|300535|300538|300539|300544|300545|300549|300551|300576|300578|300583|300589|300591|300593|300594|300595|300599|300601|300604|300605|300606|300607|300608|300627|300629|300635|300644|300649|300659|300660|300661|300663|359534|359635|360865|367843|368094|368095|368097|368112|368201|369423|369437|369462|394498|394570|394576|394748|394752|395013|395016|395021|406607|406608|414979|421513|443656|443657|454167|454169|454172|454178|454326|454327|454651|454656|454658|454968|454970|454973|454977|454981|500624|500625|520437|520667|520671|520943|551696|551736|551744|559827|559975|559977|559979|560090|560092|560094|560096|562574|562577|562580|564434|564435|564437|579014|579107|612270|614278|620178|620179|632894|632895|632896|632897|632898|632899|632900|632901|632902|632903|632904|632905|632906|632907|651290|651336|651338|683657|683658|685166|685167|695255|782112|790511|790512|819530|819531|829857|829858|829859|829860|829861|829862|829863|829864|829865|829866|829867|829868|829869|829870|829871|829872|829873|829874|829875|829876|829877|829878|829879|829880|829881|829882|829883|829884|829885|829886|829887|851242|851833|892696|892697|892698|892699|892700|892701|892702|892703|892704|892705|892706|892707|892708|892709|892710|892711|892712|892713|892714|892715|892716|892717|892718|892719|892720|892721|892722|892723|892724|892725|892726|892727|892728|892729|892730|892731|896020|896021|923732|923733|923734|923735|923736|932590|932591|932592|932593|932594|932595|940793|944260|944261|944262|944263|944264|944265|944266|953930|953931|953932|959743", + "text": "Pyridoxine-dependent epilepsy" + }, + { + "baseId": "33034|171000|263288|263304|360865|434101|434634|514142|535230|621022|621038", + "text": "Ventriculomegaly" + }, + { + "baseId": "33042|33043|33044|33045|33046|33047|33048|33049|33050|33051|33052|33053|33054|33055|33056|33058|33059|33060|33061|33062|33063|33064|33065|33066|33067|33068|33069|33070|33071|33072|33073|33074|33075|33076|33077|33078|33079|33080|33081|33082|33083|33084|33085|171055|185953|212078|221086|221087|238195|238196|238197|238198|249550|249551|277476|277479|277664|277668|278553|278556|354054|390735|390945|390949|447428|515311|515312|515340|515378|515387|557060|588364|615292|615293|615295|615296|615297|615298|615299|615300|615301|615302|615303|615304|615305|615306|615308|615855|615856|615857|615862|623052|627124|627125|627126|627127|627128|627129|650597|682730|685586|818873|823017|823018|823019|823020|858875|862838|862839|862840|862841|862842|862843|865041|930172|930173|930174|941582|941583|952147|952148|952149", + "text": "Antithrombin III deficiency" + }, + { + "baseId": "33050|33053|33062|33069|33077|171055", + "text": "Antithrombin deficiency" + }, + { + "baseId": "33086", + "text": "ANTICHYMOTRYPSIN ISEHARA 1" + }, + { + "baseId": "33086", + "text": "Peripheral arterial occlusive disease 1" + }, + { + "baseId": "33087", + "text": "ANTICHYMOTRYPSIN ISEHARA 2" + }, + { + "baseId": "33088", + "text": "ANTICHYMOTRYPSIN BOCHUM 1" + }, + { + "baseId": "33089", + "text": "ANTICHYMOTRYPSIN BONN 1" + }, + { + "baseId": "33090", + "text": "ANTICHYMOTRYPSIN SIGNAL PEPTIDE POLYMORPHISM" + }, + { + "baseId": "33091|75619|106632|513315|622400", + "text": "CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy" + }, + { + "baseId": "33093|33094|237208|248709|248710|248711|248712|324964|324967|324968|324973|324979|324983|334633|334634|334636|334637|334639|334654|341120|341121|341123|341124|341129|342656|342663|342665|342668|342669|342670|342672|342673|620537|626244|740096|799951|816335|875085|875086|875087|875088|875089|875090|875091|875092|875093|875094|875095|875096|961968|961969|982005", + "text": "Common variable immunodeficiency 3" + }, + { + "baseId": "33095|33098", + "text": "Long QT syndrome 4" + }, + { + "baseId": "33095|33096|33097|33098|33099|44351|44354|44355|78492|78493|78495|78499|78500|78502|140083|140087|140089|140090|140093|140094|140097|140100|140101|140103|178533|178534|178536|178537|186018|188336|188337|188338|188344|188353|188374|188375|188379|188391|188392|188395|188401|188402|188405|188407|188408|189229|189235|189236|189238|189240|189243|189244|189245|189247|189248|189249|189250|189251|194641|212344|212346|221429|221431|221432|224288|224294|224296|236765|239301|239302|239303|239306|239309|239310|239311|239312|239316|239317|239318|239321|239324|239325|239326|239329|244014|251312|251313|251314|251315|258327|258329|258338|258339|258341|258353|273618|292034|292040|292041|292043|292053|292056|292060|292064|292066|292067|292069|292075|292076|292088|292089|292098|292103|293481|293482|293483|293484|293487|293492|293501|293502|293511|293513|293515|293527|293529|293540|293541|296777|296787|296794|296795|296796|296797|296801|296806|296807|296808|296809|296810|296812|296816|296817|296818|296821|296822|296824|296827|296828|296829|296831|296832|296833|296836|296840|296850|296858|296859|367497|367765|367776|367781|367784|367787|367801|367802|367811|367820|368850|393789|393813|393819|393846|393855|393874|394224|394286|425591|452857|453232|453286|500388|500695|501013|509640|509656|509658|509677|512812|519702|519718|536659|536660|551771|613402|620771|631885|683611|686483|686486|686487|730256|795505|795507|828685|889971|889972|889973|889974|889975|889976|889977|889978|889979|889980|889981|889982|889983|889984|889985|889986|889987|889988|889989|889990|889991|889992|889993|889994|889995|889996|889997|889998|889999|890000|890001|890002|890003|890004|890005|890006|890007|890008|890009|890010|890011|890012|890013|890014|890015|890016|890017|890018|890019|890020|890021|890022|891738|891739|891740|891741|891742|918871|918872|961268", + "text": "Cardiac arrhythmia, ankyrin B-related" + }, + { + "baseId": "33100", + "text": "ANGIOTENSIN I-CONVERTING ENZYME INSERTION/DELETION POLYMORPHISM" + }, + { + "baseId": "33100", + "text": "Microvascular complications of diabetes 3" + }, + { + "baseId": "33100", + "text": "Stroke, hemorrhagic, susceptibility to" + }, + { + "baseId": "33100", + "text": "Severe acute respiratory syndrome, progression of" + }, + { + "baseId": "33100|33107", + "text": "Susceptibility to progression to renal failure in IgA nephropathy" + }, + { + "baseId": "33101", + "text": "Angiotensin i-converting enzyme, benign serum increase" + }, + { + "baseId": "33107", + "text": "Preeclampsia, susceptibility to" + }, + { + "baseId": "33108", + "text": "Crohn disease, association with" + }, + { + "baseId": "33112|33113|33114|33115|33116|33117|33118|33119|33120|33121|254908|320276|320277|320278|320290|328854|328855|328869|328872|328873|328874|328877|335460|335468|335469|335472|335474|335476|337328|337329|337360|796983|871686|871687|871688|871689|871690|871691|871692|871693|871694|872358", + "text": "Amyotrophic lateral sclerosis type 9" + }, + { + "baseId": 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+ "text": "Neuroblastoma 3" + }, + { + "baseId": "33126", + "text": "ABeta amyloidosis, Dutch type" + }, + { + "baseId": "33127|33128|33129|33130|33132|33133|33134|33135|33136|33137|33139|33141|33144", + "text": "Alzheimer disease, type 1" + }, + { + "baseId": "33130", + "text": "ABetaA21G amyloidosis" + }, + { + "baseId": "33137", + "text": "ABeta amyloidosis, Arctic type" + }, + { + "baseId": "33138", + "text": "ABeta amyloidosis, Italian type" + }, + { + "baseId": "33140", + "text": "ABeta amyloidosis, Iowa type" + }, + { + "baseId": "33142", + "text": "CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT" + }, + { + "baseId": "33143", + "text": "Alzheimer disease, early-onset, with cerebral amyloid angiopathy" + }, + { + "baseId": "33146|33147", + "text": "Serum amyloid a variant" + }, + { + "baseId": "33148|33149|33150|33151|33152|33153|171740|538360|720546|720547|788766|961766", + "text": "Aminoacylase 1 deficiency" + }, + { + "baseId": "33162|33162|33163|33163|33164|33164|33165|33166|33166|33167|33168|33169|33170|33170|33171|33172|33173|33174|33175|33175|33176|33177|33179|33180|33181|33182|33182|33184|33184|33185|33186|33187|33187|33188|33189|33191|33194|33194|33195|33196|33196|33197|33878|33879|33880|33880|33881|46864|103896|103896|103907|103907|103914|103915|103918|103940|103945|103957|103973|103986|103986|103993|104001|125778|255044|255044|321078|321082|321094|321095|321099|321113|321115|321116|321117|321121|321122|321123|321124|330240|330240|330241|330246|330247|330249|330252|330254|330266|330269|330275|330278|330285|330286|330289|330296|330302|330308|330316|330317|330321|330326|336728|336729|336729|336730|336732|336733|336754|336762|336763|336767|336768|336779|336790|336808|336809|338737|338739|338744|338744|338747|338748|338752|338754|338755|338758|338759|338765|338767|338772|338773|338776|338777|338781|568253|569009|577364|577367|614153|622845|626017|642667|642668|642669|642670|642671|642672|642673|642673|642674|677120|680052|693590|693591|739304|739304|798677|841713|841714|841715|841716|841717|841718|872417|872418|872419|872420|872421|872422|872423|872424|872425|872426|872427|872428|872429|872430|872431|872432|872433|872434|872435|872436|872437|872438|872439|872440|872441|872442|872443|872444|872445|872446|872447|872448|872449|872450|872451|872452|872453|872454|872455|872456|872457|872458|872459|872460|872461|872462|872463|872464|936704|948648|957292|957293|980493", + "text": "Alzheimer disease, type 3" + }, + { + "baseId": "33162|33163|33164|33166|33170|33175|33182|33184|33187|33194|33195|33196|33880|38560|46864|103896|103907|103914|103918|103940|103945|103957|103986|104001|255044|330240|336729|338744|568253|569009|577364|577367|642667|642668|642669|642670|642671|642672|642673|642674|693591|739304|841713|841714|841715|841716|841717|841718|936704|948648|957292|957293", + "text": "Acne inversa, familial, 3" + }, + { + "baseId": "33171|33173|33178", + "text": "Alzheimer disease, familial, with spastic paraparesis and unusual plaques" + }, + { + "baseId": "33175|33195|103896|103957|103986|255044|321078|321082|321094|321095|321099|321113|321115|321116|321117|321121|321122|321123|321124|330240|330241|330246|330247|330249|330252|330254|330266|330269|330275|330278|330285|330286|330289|330296|330302|330308|330316|330317|330321|330326|336728|336729|336730|336732|336733|336754|336762|336763|336767|336768|336779|336790|336808|336809|338737|338739|338744|338747|338748|338752|338754|338755|338758|338759|338765|338767|338772|338773|338776|338777|338781|642673|693590|739304|872417|872418|872419|872420|872421|872422|872423|872424|872425|872426|872427|872428|872429|872430|872431|872432|872433|872434|872435|872436|872437|872438|872439|872440|872441|872442|872443|872444|872445|872446|872447|872448|872449|872450|872451|872452|872453|872454|872455|872456|872457|872458|872459|872460|872461|872462|872463|872464", + "text": "Cardiomyopathy, dilated, 1u" + }, + { + "baseId": "33183|33192", + "text": "Alzheimer disease, familial, 3, with spastic paraparesis and apraxia" + }, + { + "baseId": "33187|33198", + "text": "Alzheimer disease, familial, 3, with unusual plaques" + }, + { + "baseId": "33190|33193", + "text": "Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques" + }, + { + "baseId": "33201|33201|33204|193403|195223|209357|338339|338345|338346|338348|347988|347989|347992|347993|347994|347997|347998|348003|348005|348006|351725|351726|351728|351729|351731|351735|351736|351737|351738|351740|351741|351742|351744|352616|352617|352618|352619|352620|352621|352621|352622|352623|352624|574145|575274|575275|649535|649536|649537|717487|729224|742946|742947|742948|742949|745348|758120|849391|891370|891371|891372|891373|891374|891375|891376|891377|891378|891379|891380|891381|891382|891383|891384|891385|891386|891387|891388|929500", + "text": "Alpha-N-acetylgalactosaminidase deficiency type 1" + }, + { + "baseId": "33201", + "text": "Alpha-N-acetylgalactosaminidase deficiency" + }, + { + "baseId": "33201|33201|33202|33203|33204|33205|193403|195223|338339|338345|338346|338348|347988|347989|347992|347993|347994|347997|347998|348003|348005|348006|351725|351726|351728|351729|351731|351735|351736|351737|351738|351740|351741|351742|351744|352616|352617|352618|352619|352620|352621|352621|352622|352623|352624|717487|729224|758120|891370|891371|891372|891373|891374|891375|891376|891377|891378|891379|891380|891381|891382|891383|891384|891385|891386|891387|891388|920430", + "text": "Alpha-N-acetylgalactosaminidase deficiency type 2" + }, + { + "baseId": "33204", + "text": "Schindler disease, type 3" + }, + { + "baseId": "33205|620691", + "text": "NAGA-Related Disorders" + }, + { + "baseId": "33207|205354", + "text": "Alpha-fetoprotein, hereditary persistence of" + }, + { + "baseId": "33208|33209", + "text": "Alpha-fetoprotein deficiency" + }, + { + "baseId": "33210|33211|33212|33213|390084", + "text": "ALPHA-2-MACROGLOBULIN POLYMORPHISM" + }, + { + "baseId": "33216|33217|324993|324996|324997|325002|334656|334661|334670|334679|334682|334685|334686|334687|341138|341139|341140|342677|342680|342681|342683|342686|342687|342688|374354|375130|377510|377519|445566|495606|567499", + "text": "HNSHA due to aldolase A deficiency" + }, + { + "baseId": "33218|33219|33221|33222|33429", + "text": "Alcohol dependence" + }, + { + "baseId": "33221", + "text": "Aerodigestive tract cancer, squamous cell, alcohol-related, protection against" + }, + { + "baseId": "33223", + "text": "PROALBUMIN LILLE" + }, + { + "baseId": "33225", + "text": "PROALBUMIN TAKEFU" + }, + { + "baseId": "33226", + "text": "ALBUMIN BLENHEIM" + }, + { + "baseId": "33227", + "text": "ALBUMIN NAGASAKI 3" + }, + { + "baseId": "33228", + "text": "ALBUMIN YANOMAMA 2" + }, + { + "baseId": "33229", + "text": "ALBUMIN NAGOYA" + }, + { + "baseId": "33231", + "text": "ALBUMIN TAGLIACOZZO" + }, + { + "baseId": "33231|33252|33258|33259|33264|33266|33277|33278|294150|294151|294156|294159|294171|294172|295662|295666|295684|295692|295696|295697|295698|299435|299436|299437|299439|299444|299451|299454|299457|299459|299464|299465|299466|299470|299473|779052|892201|892202|892203|892204|892205|892206|892207|892208|892209|892210|892211|892212|892213|892214|892215|892216|892217|892218|892219|895995", + "text": "Hyperthyroxinemia, familial dysalbuminemic" + }, + { + "baseId": "33232", + "text": "ALBUMIN REDHILL" + }, + { + "baseId": "33233", + "text": "ALBUMIN ROMA" + }, + { + "baseId": "33234", + "text": "ALBUMIN HIROSHIMA 1" + }, + { + "baseId": "33235", + "text": "ALBUMIN COARI I" + }, + { + "baseId": "33236", + "text": "ALBUMIN PARKLANDS" + }, + { + "baseId": "33237", + "text": "ALBUMIN NASKAPI" + }, + { + "baseId": "33238", + "text": "ALBUMIN NAGASAKI 2" + }, + { + "baseId": "33239", + "text": "ALBUMIN TOCHIGI" + }, + { + "baseId": "33240", + "text": "ALBUMIN HIROSHIMA 2" + }, + { + "baseId": "33241", + "text": "ALBUMIN VANCOUVER" + }, + { + "baseId": "33243", + "text": "ALBUMIN MEXICO 2" + }, + { + "baseId": "33244", + "text": "ALBUMIN FUKUOKA 1" + }, + { + "baseId": "33245", + "text": "ALBUMIN OSAKA 1" + }, + { + "baseId": "33246", + "text": "ALBUMIN B" + }, + { + "baseId": "33248", + "text": "ALBUMIN VANVES" + }, + { + "baseId": "33249|33263|166089|166091|166092|166093|166094|166099|166100|166102|166103|166104|624071", + "text": "Analbuminemia" + }, + { + "baseId": "33250", + "text": "ALBUMIN VENEZIA" + }, + { + "baseId": "33251", + "text": "ALBUMIN CASTEL DI SANGRO" + }, + { + "baseId": "33252", + "text": "PROALBUMIN MALMO" + }, + { + "baseId": "33253", + "text": "PROALBUMIN JAFFNA" + }, + { + "baseId": "33254", + "text": "ALBUMIN HAWKES BAY" + }, + { + "baseId": "33256", + "text": "ALBUMIN TORINO" + }, + { + "baseId": "33257", + "text": "ALBUMIN VIBO VALENTIA" + }, + { + "baseId": "33258", + "text": "ALBUMIN CASEBROOK" + }, + { + "baseId": "33259", + "text": "ALBUMIN IOWA CITY 1" + }, + { + "baseId": "33260", + "text": "ALBUMIN KOMAGOME 2" + }, + { + "baseId": "33261", + "text": "ALBUMIN RUGBY PARK" + }, + { + "baseId": "33262", + "text": "ALBUMIN HERBORN" + }, + { + "baseId": "33265", + "text": "ALBUMIN LARINO" + }, + { + "baseId": "33266", + "text": "ALBUMIN TRADATE 2" + }, + { + "baseId": "33267", + "text": "ALBUMIN CASERTA" + }, + { + "baseId": "33268", + "text": "ALBUMIN BAZZANO" + }, + { + "baseId": "33269", + "text": "ALBUMIN ASOLA" + }, + { + "baseId": "33270", + "text": "ALBUMIN MALMO-95" + }, + { + "baseId": "33271", + "text": "ALBUMIN MALMO-10" + }, + { + "baseId": "33272", + "text": "ALBUMIN MALMO-47" + }, + { + "baseId": "33273", + "text": "ALBUMIN SONDRIA" + }, + { + "baseId": "33274", + "text": "ALBUMIN MALMO-5" + }, + { + "baseId": "33275", + "text": "ALBUMIN DUBLIN" + }, + { + "baseId": "33276", + "text": "ALBUMIN ORTONOVO" + }, + { + "baseId": "33279", + "text": "Analbuminemia baghdad" + }, + { + "baseId": 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+ "text": "Myasthenic syndrome, congenital, 8" + }, + { + "baseId": "33282|33283|172167|172168", + "text": "Wilms tumor 2" + }, + { + "baseId": "33284|33285|33286|33287|33288|142855|142856|211025|292924|292925|292939|292946|292948|292953|292962|292964|292966|294301|294302|294306|294314|294317|294328|294329|294335|294338|294347|294350|294351|294353|297754|297773|297775|297786|297794|297800|297803|297804|297860|297861|297862|297872|297875|297877|297887|297888|679431|890501|890502|890503|890504|890505|890506|890507|890508|890509|890510|890511|890512|890513|890514|890515|890516|890517|890518|890519|890520|890521|890522|890523|890524|890525|890526|890527|890528", + "text": "Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2" + }, + { + "baseId": "33288|76919|263776|263777|553379", + "text": "Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive" + }, + { + "baseId": "33288|201345|513982", + "text": "Vertigo" + }, + { + "baseId": "33288|51905|171147|177203|189973|198075|198264|198952|240006|259847|400327|488530|551741|551746|621903|621904", + "text": "Left ventricular hypertrophy" + }, + { + "baseId": "33288", + "text": "Abnormality of mitochondrial metabolism" + }, + { + "baseId": "33288", + "text": "Mitochondrial respiratory chain defects" + }, + { + "baseId": "33289|33290|33291|33292|33293|33294|33295|33297|33298|33299|33300|33301|140030|188786|439807|447822|448089|448120|498579|515822|515847|515860|515909|515911|515915|556504|557031|557033|558483|558485|627767|627768|627769|627770|627771|627772|627773|627774|627775|627776|627777|627778|627779|627780|627781|650655|690584|690585|732392|732393|743745|746431|746432|823894|823895|823896|823897|823898|921995|921996|921997|921998|930472|952392", + "text": "Reticular dysgenesis" + }, + { + "baseId": "33302|33303|33304|33305|33306|33307|33308|389880|433354|609719|799577|799578|799579", + "text": "Adenylate kinase deficiency, hemolytic anemia due to" + }, + { + "baseId": "33309|99376|177486|190776|191176|195606|195919|312171|312172|312184|312186|312188|312190|312193|312194|312202|312203|312209|312213|312216|312217|312219|317937|317943|317955|317957|317958|317959|317964|317966|317975|317977|317978|323998|324002|324003|324004|324006|324007|324011|324018|324026|324027|324028|324732|324733|324754|324756|324768|324770|324773|324776|324785|324810|324812|324813|324814|324832|324834|324844|324845|324852|324866|701541|701542|866894|866895|866896|866897|866898|866899|866900|866901|866902|866903|866904|866905|866906|866907|866908|866909|866910|866911|866912|866913|866914|866915|866916|866917|866918|866919|866920|866921|866922|866923|866924|866925|866926|866927|866928|866929|866930|866931|866932|866933|866934|866935|868593|868594|868595|868596", + "text": "Erythrocyte AMP deaminase deficiency" + }, + { + "baseId": "33310|33311|33312|97347|98241|98243|98244|98245|98246|98249|177319|177482|177483|177484|177485|194781|270892|275938|276232|276344|515028|538326|549851|556855|626657|626658|650518|706593|758825|822575|920123|921598", + "text": "Muscle AMP deaminase deficiency" + }, + { + "baseId": "33313", + "text": "furosemide and spironolactone response - Efficacy" + }, + { + "baseId": "33314|611397|961609", + "text": "Developmental malformations-deafness-dystonia syndrome" + }, + { + "baseId": "33314|38553|38554|38555|38556|76956|132659|132660|132661|132662|132663|132664|132665|132666|132667|132668|132669|132670|133711|133712|133713|199788|214776|259236|259867|264344|275077|275078|369485|369492|369760|369768|371162|371165|371180|424622|431916|431917|439880|457795|457806|457809|457811|481330|486791|486792|486793|501752|501754|502395|511009|522949|522960|522967|523318|561639|561995|564314|611397|636203|683918|683919|683921|683922|687076|687077|687078|687079|687080|687081|687083|689881|689883|798586|816466|833728|906195|919107|924876|924877|945719|955181|961609|964293|964834|970524|970860", + "text": "Baraitser-Winter syndrome 1" + }, + { + "baseId": "33315|33316|33317|38552|38552|45281|53385|53386|76366|76367|139981|175327|197388|197393|197394|197396|197398|197402|197403|197832|227843|240891|240893|258662|258664|258665|258666|258668|258670|258672|258674|258675|259943|311573|311576|311579|317167|317169|323194|323198|350049|370978|370981|371600|371895|373591|373592|397529|397530|397973|398092|408018|460315|460317|460386|461149|461151|487766|502942|503845|510243|510244|525523|525527|525592|525595|525597|525598|525813|525937|525940|564034|564036|564038|564382|564889|566604|566606|569873|569887|582201|617616|624412|624413|639295|639296|639297|639298|639299|687678|768050|791010|820275|837454|837455|837456|837457|837458|852281|866511|866512|866513|866514|866515|866516|868528|911279|925973|935227|935228|947128|956270|956271|966481|967191", + "text": "Aortic aneurysm, familial thoracic 6" + }, + { + "baseId": "33315|210379|259161|485695|485735|485756", + "text": "Aortic aneurysm, familial thoracic 2" + }, + { + "baseId": "33316|33317|38552|38552|919302", + "text": "Moyamoya disease 5" + }, + { + "baseId": "33318|33319|33321|33322|33323|33324|33325|33328|33331|51272|51273|59459|99451|99452|99453|99454|99457|99460|132672|133708|193472|206767|206768|226438|228356|249757|249759|259655|279423|279424|279425|279717|280964|281106|281108|281109|361844|364872|364883|364928|364928|405080|414773|447511|447519|447520|447521|447522|447525|447527|447656|447661|447667|447669|447753|447757|447769|447775|447776|447779|447784|447811|447816|447818|447820|447824|447826|447828|447829|511241|515493|515569|515576|515612|515613|515614|552039|552040|556798|556800|556866|556868|556872|556877|556994|556999|557167|557169|558353|558355|608937|608938|627407|627408|627409|627410|627411|627412|627413|627414|627415|627416|627417|627418|627419|679734|679735|690509|690510|690511|696563|746245|746246|780594|789940|789941|789942|798465|805212|818933|823501|823502|823503|823504|823505|823506|823507|823508|823509|823510|823511|823512|850963|851287|858775|863829|863830|863831|863832|863833|863834|863835|921855|921856|921857|921858|921859|921860|921861|930338|941772|941773|941774|963224|963225", + "text": "Congenital myopathy with excess of thin filaments" + }, + { + "baseId": "33320", + "text": "Myopathy, actin, congenital, with excess of thin myofilaments" + }, + { + "baseId": "33322", + "text": "ACTA1-related myopathies" + }, + { + "baseId": "33326|33327", + "text": "Myopathy, actin, congenital, with cores" + }, + { + "baseId": "33333|33334|33335|33336|33337|33338|33339|33340|33341|49434|199814|255948|326781|326785|326786|336613|336616|336623|336625|336637|336644|342867|342871|342872|342882|344511|344518|344520|344521|344525|344528|344533|353363|876140|876141|876142|876143|876144|876145|876146|876154|876734|975954|975955|975956|975957|975958|975959|975960|975961|975962|975963|975964|975965|975966|975967|975968|975969|975970|975971|975972|975973|975974|975975|975976|975977|975978|975979|975980|975981|975982|975983|975984|975985|975986|975987|975988|975989|975990|975991|975992|975993|975994|975995|975996|975997|975998|975999|976000|976001|976002|976003|976004", + "text": "Adenine phosphoribosyltransferase deficiency" + }, + { + "baseId": "33335", + "text": "APRT deficiency, Japanese type" + }, + { + "baseId": "33342|33343|33343|33344|33344|33345|33346|33347|33347|45444|45444|45445|45446|45447|45448|45449|45450|45451|45451|45452|45453|45454|45454|75618|143031|143031|226683|226690|260167|328431|328433|328434|328440|328441|328443|328467|328468|328472|328474|328478|328480|338408|338409|338415|338417|338417|338424|338424|338425|338428|344456|344459|344462|344464|344467|344476|344477|344478|344481|344503|344508|344508|345883|345884|345892|345896|345898|345904|345907|345907|345908|345911|345915|360444|378188|378191|409927|422166|424450|445773|467668|486616|487705|505911|505914|505914|506816|506816|531014|531513|531516|531519|531531|569047|571120|571120|571121|571136|571358|571370|574457|574458|574459|574460|621567|621568|645887|645888|645889|645890|645891|645892|645893|645894|645895|645896|645897|645898|645899|645900|653270|727181|740752|740753|740754|740754|745289|755847|755848|755849|755850|771497|771498|771499|771500|788119|788121|791744|845333|845334|845335|845336|845337|845338|845339|845340|845341|877505|877506|877507|877508|877509|877510|877511|877512|877513|877514|877515|877516|877517|877518|877518|877519|877520|877521|877522|877523|877524|877525|880518|880519|928261|928262|928263|928264|928265|928266|928267|937929|937930|937931|940412|941181|949918|949919|949920|958106|960885|960886|965877", + "text": "Hyper-IgE recurrent infection syndrome 1, autosomal dominant" + }, + { + "baseId": "33343|33344|33347|45444|45451|45454|143031|226683|226690|260167|338417|338424|344508|345907|360444|378188|378191|409927|422166|445773|467668|487705|505911|505914|506816|531014|531513|531516|531519|531531|569047|571120|571121|571136|571358|571370|574457|574458|574459|574460|621567|621568|645887|645888|645889|645890|645891|645892|645893|645894|645895|645896|645897|645898|645899|645900|653270|727181|740752|740753|740754|745289|755847|755848|755849|755850|771497|771498|771499|771500|788119|788121|845333|845334|845335|845336|845337|845338|845339|845340|845341|877518|928261|928262|928263|928264|928265|928266|928267|937929|937930|937931|940412|941181|949918|949919|949920|958106|960885|960886", + "text": "STAT3 gain of function" + }, + { + "baseId": "33347|137057|137058|166237|174690|176632|260167|308206|308440|308499|308512|318386|319408|328429|328479|338410|344453|344510|345882|345900|345901|353855|621568", + "text": "Hyper-IgE syndrome" + }, + { + "baseId": "33348|33349|33350|38547|38548|38549|38550|38551|205405|213526|250303|250304|250305|282323|282333|282334|282339|282340|282348|282350|282351|283009|283010|283012|283013|283020|284579|284580|284581|284582|284583|284590|284594|284599|284600|284603|284982|284989|285001|285002|285006|285025|285029|285041|285044|759036|881263|881264|881265|881266|881267|881268|881269|881270|881271|881272|881273|882818|882819|961502|965346", + "text": "Progressive myositis ossificans" + }, + { + "baseId": "33351", + "text": "ACTININ, ALPHA-3 POLYMORPHISM" + }, + { + "baseId": "33351", + "text": "ACTN3 deficiency" + }, + { + "baseId": "33351", + "text": "Sprinting performance" + }, + { + "baseId": "33352|33352|44314|44315|44315|53062|53063|53066|53066|53068|53071|53071|53072|53072|53073|53073|53074|53075|53077|53077|53078|53078|53079|53080|53083|53084|53084|53085|53086|53086|53087|53088|53089|53089|53090|53090|53091|53092|53092|53093|53095|53096|53097|53098|53100|53100|53101|53102|53102|53103|53103|53104|53105|53106|53107|53109|53109|53111|53112|53112|53116|53117|53117|53118|53119|53119|53120|53120|53121|139985|139986|139987|139989|139990|139991|172391|172391|172392|172394|172394|172396|172397|172397|172400|172530|172533|172535|172537|172537|172538|172786|172787|172788|172928|172928|172929|187396|189393|189394|189395|189396|189396|189397|189402|189403|189403|198041|198042|198043|198044|198045|198048|198049|198050|198051|198054|198055|198056|198058|198058|198059|198059|198060|198061|198062|198067|198071|212080|212081|212084|212084|212085|214103|221090|221090|224194|228359|228362|228364|228365|238222|238222|238223|238224|238225|238227|238229|238230|257950|257951|257954|257955|257957|279741|279743|279744|279744|279746|279746|279753|279753|279754|279754|279767|279769|279774|280066|280075|280076|280076|280079|280085|280092|281356|281356|281358|281358|281360|281360|281364|281370|281372|281379|281380|281383|281385|281546|281547|281548|281555|281557|281557|281558|359244|359287|364787|364936|364942|364946|364967|364989|364991|364994|390978|390990|390991|390991|390994|391004|391005|391009|391009|391013|391017|391017|391026|391028|391033|391034|391079|391114|391131|391142|391145|391149|391151|421224|421225|421226|421226|433341|446925|446951|447588|447589|447590|447592|447595|447595|447597|447602|447602|447756|447760|447767|447774|447819|447821|447836|447840|447843|447845|447847|447849|447850|447866|447870|447873|447874|447877|447877|447881|447893|447897|447902|447906|447908|447918|508768|508768|509163|509164|509166|511047|515547|515549|515553|515572|515633|515637|515637|515645|515649|515651|515653|515654|515659|515662|515688|515690|515691|515695|515697|556523|556823|556825|556827|556829|557154|557156|557157|557161|557164|557166|557201|557203|557205|557207|557209|557211|558375|558377|558379|558381|558383|558385|558387|589825|614705|627509|627510|627511|627512|627513|627514|627515|627516|627517|627518|627519|627520|627521|627522|627523|627524|627525|627526|627527|627528|627529|627530|650621|650621|650626|650634|650693|685639|685639|685640|690535|690536|695036|732293|761741|794618|798985|818170|823612|823613|823614|823615|823616|823617|823618|823619|823620|823621|823622|823623|823624|823625|823626|823627|823628|823629|823630|823631|823632|823633|850702|863989|863989|863990|863991|863992|863993|863994|863995|863996|863997|863998|863999|864000|864001|864002|864003|864004|864005|864006|864007|864008|864009|864010|864011|864012|865149|921889|921890|921891|921892|921893|921894|921895|921896|921897|921898|930379|930380|930381|930382|930383|940624|941808|941809|941810|941811|941812|941813|941814|941815|941816|952324|952325|952326|952327|952328|952329|959546|959547|959548|960424", + "text": "Dilated cardiomyopathy 1AA" + }, + { + "baseId": 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+ "text": "Myofibrillar myopathy, filamin C-related" + }, + { + "baseId": 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+ "text": "Myopathy, distal, 4" + }, + { + "baseId": 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+ "text": "Dilated Cardiomyopathy, Dominant" + }, + { + "baseId": 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+ "text": "Cardiomyopathy, familial hypertrophic, 26" + }, + { + "baseId": "33354|33355|33356|33357|33358|33359|33360|33361|38544|53316|53317|133720|176739|176746|178232|178233|178277|178309|208421|231325|231329|231330|269772|272126|376793|376801|378844|378858|378864|378867|433340|467703|490935|492667|497861|497892|506476|506802|507230|532015|532090|532383|553005|553006|646969|694220|694221|694223|695783|704457|704458|704462|791845|798726|966363", + "text": "Deafness, autosomal dominant 20" + }, + { + "baseId": "33362|33362|33363|33365|33368|33370|54338|54339|54342|54345|54346|54348|54353|54358|54359|54361|54361|65597|65597|65598|139983|139983|139984|175955|175958|176101|179718|179721|179723|179724|179729|179733|179735|179737|179741|179743|193567|214543|222416|242032|322265|322269|322277|322280|322282|322283|322294|322300|322301|322304|322310|322312|322312|331584|331588|331590|331592|331593|331602|331634|331640|331647|338516|338517|338520|338523|338524|338564|338580|338586|338595|338606|340276|340281|340298|340305|340306|340312|340332|340332|340333|376392|376394|400055|400228|400230|400236|400868|400869|400871|400877|464140|464140|464144|464146|464148|464149|464958|464959|464980|504726|505620|505620|511121|528723|528755|528764|528954|529101|529231|529233|529234|529247|529248|566975|566976|568705|615097|618240|643102|643103|643104|643105|643106|643107|643108|643109|643110|643111|653034|667999|684533|695637|820687|842232|842233|842234|842235|842236|842237|873259|873260|873261|873262|873263|873264|873265|873266|873267|873268|873269|873270|873271|873272|873273|873274|873275|873276|873277|873278|873279|873280|873281|873282|873283|873284|873285|873286|873287|873288|873289|873290|873291|916260|927298|927299|936898|948847|948848|948849|957395", + "text": "Dilated cardiomyopathy 1R" + }, + { + "baseId": "33362|33365|33366|33367|33368|33370|54338|54339|54342|54345|54346|54348|54353|54358|54359|54361|65597|65598|139983|175955|175958|176101|179718|179721|179723|179724|179729|179733|179735|179737|179741|179743|193567|222416|242032|322312|340332|376392|376394|400055|400228|400230|400236|400868|400869|400871|400877|464140|464144|464146|464148|464149|464958|464959|464980|504726|505620|511121|528723|528755|528764|528954|529101|529231|529233|529234|529247|529248|566975|566976|568705|615097|618240|643102|643103|643104|643105|643106|643107|643108|643109|643110|643111|653034|667999|684533|695637|820687|842232|842233|842234|842235|842236|842237|916260|927298|927299|936898|948847|948848|948849|957395", + "text": "Atrial septal defect 5" + }, + { + "baseId": "33362|33364|33365|33365|33368|33368|33369|33370|33370|54338|54339|54342|54345|54346|54348|54353|54358|54359|54361|54361|65597|65597|65598|139983|139983|139984|175955|175958|176101|179718|179721|179723|179724|179729|179733|179735|179737|179741|179743|193567|214137|214543|222416|242032|322265|322269|322277|322280|322282|322283|322294|322300|322301|322304|322310|322312|322312|331584|331588|331590|331592|331593|331602|331634|331640|331647|338516|338517|338520|338523|338524|338564|338580|338586|338595|338606|340276|340281|340298|340305|340306|340312|340332|340332|340333|376392|376394|400055|400228|400230|400236|400868|400869|400871|400877|464140|464140|464144|464146|464148|464149|464958|464959|464980|504726|505620|505620|511121|528723|528755|528764|528954|529101|529231|529233|529234|529247|529248|566975|566976|568705|615097|618240|643102|643103|643104|643105|643106|643107|643108|643109|643110|643111|653034|667999|684533|695637|820687|842232|842233|842234|842235|842236|842237|873259|873260|873261|873262|873263|873264|873265|873266|873267|873268|873269|873270|873271|873272|873273|873274|873275|873276|873277|873278|873279|873280|873281|873282|873283|873284|873285|873286|873287|873288|873289|873290|873291|916260|927298|927299|936898|948847|948848|948849|957395", + "text": "Familial hypertrophic cardiomyopathy 11" + }, + { + "baseId": "33370", + "text": "Left ventricular noncompaction 4" + }, + { + "baseId": "33374", + "text": "YT BLOOD GROUP POLYMORPHISM" + }, + { + "baseId": "33375|33376|33377|33378|33379|33380|33381|38537|191227|195343|195688|196264|214403|236956|236956|237286|250402|250667|250668|250669|250670|266272|269668|274055|282964|283798|285276|285284|285298|285299|285306|285311|285312|285318|285319|285324|285836|285922|285941|285949|285958|285959|285960|285961|285962|285964|285966|285969|285970|288248|288264|288265|288266|288274|288276|288284|288306|288310|288685|288689|288690|288707|288716|288731|288732|288738|363715|384512|405661|405662|426713|443183|489164|538346|788751|790211|804994|884130|884140|884141|884142|884143|884144|884145|884146|884147|884148|884149|884150|884151|884152|884153|884154|884155|884156|884157|884158|884159|884160|884161|884162|884163|884164|884165|884166|884167|887317|887318|918753", + "text": "Autosomal recessive multiple pterygium syndrome" + }, + { + "baseId": "33375|538346|724728|966718|966719|966721", + "text": "Ankle contracture" + }, + { + "baseId": "33375|39548|49024|136760|185948|263200|263296|360998|361017|361048|485813|514187|514310|514311|538346|626373|682328|682329|682330|682331|682332|682333|682334|682335|682336|682337|682338|682339|920586", + "text": "Scoliosis" + }, + { + "baseId": "33375|538346", + "text": "Arthrogryposis-like hand anomaly" + }, + { + "baseId": "33376|33379|33381|33402|33407|33408|33409|33416|33418|33427|33428|38536|38537|134182|134183|134184|134204|134205|134206|134207|139373|190288|190766|191169|191227|192261|195200|195343|195550|195688|195909|196198|196264|206906|206949|236956|236956|237286|250660|250661|250667|250668|250670|265660|265660|266272|267375|267375|269668|270135|270617|270618|272295|274055|274172|282956|282959|283772|283773|283774|283775|283797|283803|283808|285265|285276|285277|285281|285284|285294|285296|285298|285299|285306|285311|285318|285319|285324|285404|285409|285413|285430|285431|285435|285437|285438|285819|285820|285822|285832|285833|285838|285906|285917|285922|285932|285940|285941|285943|285949|285950|285951|285956|285958|285959|285960|285961|285962|285964|288234|288235|288236|288242|288262|288264|288265|288266|288274|288276|288284|288657|288667|288668|288669|288670|288680|288681|288686|288688|288689|288690|288707|288716|288731|288732|288738|359351|363715|365698|367085|389195|405656|405661|413590|426713|443058|448551|448988|448991|448996|449165|449171|449173|449174|449262|449269|449296|449298|450493|450494|450497|450509|450517|450638|450640|450643|450808|450816|450856|480725|486265|489164|514462|516221|516697|516738|516741|516742|516746|516748|517902|517908|517910|517914|517949|517961|517962|517965|518029|518034|538346|557696|557698|557700|557702|557729|557938|557999|558915|558917|558919|559177|559179|559181|559183|559400|561093|576669|576670|578401|629016|629017|629018|629019|629020|629021|629022|629023|629024|629025|629026|629027|629028|629029|629619|629620|629621|629622|629623|629624|629625|650723|650884|650919|650946|650989|690894|690895|690897|690899|691051|691053|691054|691055|691056|691057|695126|697406|697407|697409|719712|733268|759068|762431|763056|763057|763060|780971|781240|781241|790209|790210|825247|825248|825249|825250|825251|825252|825253|825254|825255|825951|825952|825953|825954|825955|825956|825957|825958|825959|825960|825961|825962|825963|850854|851362|881618|881619|881620|881621|881622|881623|881624|881625|881626|881627|881628|881629|881630|884121|884122|884123|884124|884125|884126|884127|884128|884129|884131|884132|884133|884134|884135|884136|884137|884138|884139|884140|884141|884142|884143|884144|884145|884146|884147|884148|884149|884150|884151|884152|884153|884154|884155|884156|884157|884158|884159|884160|884161|884162|884163|884164|884165|884166|884167|887315|887316|887317|887318|922418|922419|922420|922637|922638|930984|930985|930986|930987|931201|931202|931203|931204|942421|942422|942423|942424|942425|942426|942675|942676|942677|942678|952795|952984|952985|959600", + "text": "Lethal multiple pterygium syndrome" + }, + { + "baseId": "33381|443183|620069|620070|620071", + "text": "CHRNG-Related Disorders" + }, + { + "baseId": "33382|33383|33384|33385|33386|33387|33391|33396|33398|33399|48713|48714|134209|134213|134215|134216|134217|139374|244115|244116|244117|256235|256236|256240|256245|256249|256250|266273|268552|268552|270101|272149|272153|329052|329060|329063|339094|339096|339109|339111|339112|339125|345085|345087|345092|346448|346453|346457|346460|360460|378427|410057|410058|410059|413452|429984|441969|445796|466961|466968|466972|467864|467866|467869|467870|467878|467880|467895|467898|467902|467914|468162|468358|468359|468361|468362|468369|491632|506455|531216|531220|531224|531225|531393|531397|531399|531452|531459|531705|531707|531716|569230|569232|569233|569237|569241|571248|571251|571256|571592|571593|571596|574507|574508|574509|574510|577648|620886|646144|646145|646146|646147|646148|646149|646150|646151|646152|646153|646154|646155|646156|646157|646158|646159|646160|646161|646162|646163|652667|652811|652839|652978|653467|688793|694100|694101|694102|694103|694104|694105|694106|715521|740839|740840|740841|740842|740844|744977|745019|755920|755922|755924|771609|771611|771612|771613|771614|771616|771617|771619|776355|776695|776706|785629|785633|791786|821103|821105|845580|845581|845582|845583|845584|845585|845586|845587|845588|845589|845590|845591|845592|845593|852218|852753|852754|906392|928362|928363|928364|938019|938020|938021|938022|940419|940420|950019|950020|950021|950022|950023|950024|958165|958166|958167|958168|958169|958170|958171|958172|958173|958174|958175|958176|958177|958178|960889", + "text": "Myasthenic syndrome, congenital, 4a, slow-channel" + }, + { + "baseId": "33385|33396|33398|33399|33400|48688|244116|268552|346460|919737|919738|920374|961882", + "text": "Myasthenic syndrome, congenital, 4b, fast-channel" + }, + { + "baseId": "33402|190766|265660|267375|270617|538964", + "text": "Myasthenic syndrome, congenital, 3a, slow-channel" + }, + { + "baseId": "33403|33404|33405|33406|33410|265660|267375|270617|538964", + "text": "Congenital myasthenic syndrome 3B" + }, + { + "baseId": "33411|33412|134200|134202|134203|194325|196197|256398|256400|329773|329782|347173|347175|347178|445892|468825|468826|468830|468834|468837|469078|469079|495852|513646|531827|531831|531839|531843|531882|531883|531890|532150|568669|569715|569722|571586|571588|572244|572246|574611|574612|574613|574614|589390|646677|646678|646679|646680|646681|646682|646683|646684|646685|646686|646687|646688|646689|646690|652678|652867|653511|694193|694194|694195|694196|694199|694201|695775|704353|741011|741013|756111|760656|771810|778400|846174|846175|846176|846177|846178|846179|846180|852791|878369|878373|919768|919769|928525|928526|928527|938216|938217|941196|950271|950272|950273|950274|960243|960244", + "text": "Myasthenic syndrome, congenital, 2a, slow-channel" + }, + { + "baseId": "33413|33414", + "text": "Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency" + }, + { + "baseId": "33415|33416|33417|33418|33419|33420|33426|918697", + "text": "Congenital myasthenic syndrome 1A" + }, + { + "baseId": "33421|33422|33423|33424|33425|38535|38536|139374", + "text": "Congenital myasthenic syndrome 1B, fast-channel" + }, + { + "baseId": "33429|578497", + "text": "Acute alcohol sensitivity" + }, + { + "baseId": "33429", + "text": "Susceptibility to hangover" + }, + { + "baseId": "33429", + "text": "Sublingual nitroglycerin, susceptibility to poor response to" + }, + { + "baseId": "33429", + "text": "Esophageal cancer, alcohol-related, susceptibility to" + }, + { + "baseId": "33429|983526|983527|983528", + "text": "AMED SYNDROME, DIGENIC" + }, + { + "baseId": "33430|135070|141984|361200|441374", + "text": "Ataxia, spastic, 4, autosomal recessive" + }, + { + "baseId": "33431|207300|428492", + "text": "Mental retardation, anterior maxillary protrusion, and strabismus" + }, + { + "baseId": "33432|40320|40321|40322|40323|40324|192263|193452|193453|237063|237194|319992|319994|319995|319996|320000|320002|320003|320004|328552|328564|328565|335047|335052|336938|336949|336951|336956|336964|373873|409039|409041|463943|504817|527810|568228|572579|642054|642055|871457|871458|871459|871460|871461|871462|871463|871464|871465|871466|871467|871468|871469|871470|871471|871472|871473|871474|871475|926948|948417", + "text": "Congenital disorder of glycosylation type 1P" + }, + { + "baseId": "33434|33436", + "text": "DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE" + }, + { + "baseId": "33434", + "text": "Plasmodium vivax, resistance to" + }, + { + "baseId": "33434", + "text": "White blood cell count quantitative trait locus 1" + }, + { + "baseId": "33435", + "text": "DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE" + }, + { + "baseId": "33437|227335", + "text": "Migraine, with or without aura 13" + }, + { + "baseId": "33439|33440|135733|135734|135735|135736|135737|187972|264173|293244|293247|293252|293254|293258|293261|293262|293263|294579|294589|294591|294593|294598|294601|294604|298052|298058|298059|298072|298073|298088|298090|298091|298095|298097|298099|298138|298143|298180|298185|298187|298193|298195|298196|298205|298216|298233|298235|360859|513418|611612|620161|626143|683630|683631|683632|685160|685161|734612|764440|775069|787252|789115|798914|890603|890604|890605|890606|890607|890608|890609|890610|890611|890612|890613|890614|890615|890616|890617|890618|890619|890620|890621|890622|890623|890624|890625|891786|891787|891788|906151|971339|978085|978086|978087|978088|978089|978090|978091|978092|978093|978094|978095|978096|978097", + "text": "Pontocerebellar hypoplasia type 2D" + }, + { + "baseId": "33443|33444|33445|33446|33447|102019|190619|190620|194512|207120|293613|293618|293620|293625|293640|293641|293649|293650|293651|293652|293660|293661|293667|293677|295046|295047|295048|295053|295055|295057|295059|295060|295063|295070|295072|295074|295077|298689|298692|298694|298695|298712|298714|298721|298730|298734|298738|298741|298746|298750|298752|298753|298754|369137|562235|620168|623137|632437|632438|691594|792750|829402|890784|890785|890786|890787|890788|890789|890790|890791|890792|890793|890794|890795|890796|890797|890798|890799|890800|890801|890802|890803|890804|890805|890806|890807|890808|890809|890810|890811|891875|891876", + "text": "Congenital disorder of glycosylation type 1Q" + }, + { + "baseId": "33452|33453|33454", + "text": "Vesicoureteral reflux 3" + }, + { + "baseId": "33455|190639|191956|195765|247047|269267|270345|311348|311357|311364|311365|311372|311373|311381|311388|311389|311393|311395|311397|311399|311400|311401|311406|311410|311411|311417|311419|311420|311421|311423|311424|311429|311431|311432|311433|316875|316876|316888|316901|316903|316920|316935|316936|316963|316964|316968|316972|316973|316974|322840|322852|322855|322862|322865|322869|322870|322873|322877|322908|322930|322944|322956|322969|322972|322973|322985|322990|322991|323005|323480|323481|323483|323484|323493|323494|323497|323508|323520|323521|323525|323526|323527|323531|323532|323541|323542|323543|323551|323558|578346|790988|790989|790990|790991|866402|866403|866404|866405|866406|866407|866408|866409|866410|866412|866413|866414|866415|866416|866417|866418|866419|866420|866421|866422|866423|866424|866425|866426|866427|866429|866430|866431|866432|866433|866434|866435|866436|866437|866438|866439|866440|866441|866442|868519|868520|868521|868522|919294|919295|919296|919297", + "text": "Cone-rod dystrophy 15" + }, + { + "baseId": "33456|34511|34512|34513|34515|34516|34518|39740|101805|140421|169015|169015|169020|169021|169022|169023|169024|169027|169028|169031|169032|169032|169034|169038|169038|169039|169040|169041|169044|169045|191939|194480|208024|208026|208029|208030|208031|208033|208034|208036|208037|208038|208040|254844|319318|319320|319324|319331|319335|319339|319340|319344|327833|327837|327838|327860|327863|327872|327873|327877|327879|327880|327888|327890|327892|327893|334132|334133|334135|334148|334152|334165|334170|335735|335772|335797|335804|335810|335820|335829|335830|335833|335838|335845|335846|404812|426039|429484|437953|437953|490846|587191|870972|870973|870974|870975|870976|870977|870978|870979|870980|870981|870982|870983|870984|870985|870986|870987|870988|870989|870990|870991|870992|870993|870994|870995|870996|870997|870998|870999|872321|872322", + "text": "Seckel syndrome 4" + }, + { + "baseId": "33466|33467|165949|166311|166312|192059|207083|207085|207089|207089|213912|213913|213914|367721|406361|424647|426741|428216|431906|490210|511508|538978|550596|551770|552076|552077|611462|611463|614601|621730|677419|678956|678957|790416|790417|790418|790419|790420|798537|800393|861564|915025|918858|961600|963131|964226|964227|964228|964229|970778|972714|972928|972929|972930|972931|975857", + "text": "Mental retardation with language impairment and with or without autistic features" + }, + { + "baseId": "33477", + "text": "Dystonia 1, torsion, late-onset" + }, + { + "baseId": "33478|33479|97340|97341|97342|97343|97344", + "text": "Hypobetalipoproteinemia, familial, 2" + }, + { + "baseId": "33480|135041|135042|135043|135044|135046|135047|135051|135052|207924|207925|508868|508869|513318|702034|738355|738356|753025|768836|768838|768839|768841|768842|775955|784242|919401|966978|979211|979212|979213|979214|979215|979216|979217|979218|979219|979220|979221|979222|979223|979224|979225|979226|979227|979228|979229|979230", + "text": "Microcephaly, postnatal progressive, with seizures and brain atrophy" + }, + { + "baseId": "33481|215094|215095|215096|552408|726177|962242", + "text": "Hyperchlorhidrosis, isolated" + }, + { + "baseId": "33486|71504|71505|256779|332664|332667|332670|332672|332673|332674|332675|342847|342848|342850|348199|348201|348202|348203|348204|348207|348212|349404|349407|349408|349411|349412|349415|879976|879977|879978|879979|879980|879981|879982|879983|879984|879985", + "text": "Congenital dyserythropoietic anemia, type IV" + }, + { + "baseId": "33497|33498|33499|33500|188054|208642|334842|334848|334850|334857|334867|334872|334873|334875|344718|344725|344728|344729|344733|344736|344742|344744|344746|344751|349705|349706|349710|349713|349714|350693|350695|350696|350697|350698|350702|350705|350706|350709|350710|350712|577833|620654|620917|742277|860632|885843|885844|885845|885846|885847|885848|885849|885850|885851|885852|885853|885854|885855|885856|885857|885858|885859|885860|885861|885862|885863|885864|885865|885866|885867", + "text": "Spinocerebellar ataxia type 23" + }, + { + "baseId": "33502", + "text": "Retinal arteries, tortuosity of" + }, + { + "baseId": "33861|434712", + "text": "Chromosome 15q13.3 microdeletion syndrome" + }, + { + "baseId": "33887|249603|249620|249659|278345|278362|278378|278397|278399|278401|278422|278461|278471|279471|279503|279514|279524|279597|279598|279605|279612|279613|279676|279688|329365|339623|345381|346754|346763|353071", + "text": "Hypokalemic periodic paralysis" + }, + { + "baseId": "33966|33974|34018|44267|44269|44270|44271|44272|44274|44275|44276|44278|44280|44283|44284|44286|44287|44288|44883|45062|45063|45064|45068|45075|45093|45094|45095|45096", + "text": "Neonatal diabetes mellitus" + }, + { + "baseId": "33980|134759|192205|192207|317386|317391|317395|317415|317418|317429|317433|317451|317452|317456|317463|317465|317466|317470|325232|325233|325235|325236|325255|325260|325261|325262|325265|325274|325286|325287|325288|325296|331461|331464|331468|331495|331540|331564|331579|331600|332877|332891|332921|332923|332925|332937|332947|332950|332959|332969|332986|332996|333033", + "text": "Myokymia" + }, + { + "baseId": "33982|201345|282265|282273|282291|282884|282949|282984|282985|282987|282994|284486|284491|284501|284503|284781|284892|284930|284935|297404|297412|299450|299456|303577|303616|303901|303925|317387|317391|317398|317401|317404|317407|317412|317416|317428|317429|317435|317458|317466|325231|325233|325235|325238|325240|325261|325262|325267|325271|325273|325274|325279|325285|325286|325294|325295|325316|325326|331460|331463|331464|331474|331475|331487|331488|331489|331500|331501|331511|331539|331542|331561|331563|331565|331582|331598|332852|332867|332887|332895|332906|332918|332919|332922|332931|332937|332944|332955|332977|332979|332998|333005|333012|333013|333026|333027|353540|551424|801216|970990", + "text": "Episodic ataxia" + }, + { + "baseId": "33999|34000|94483|94485", + "text": "CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED" + }, + { + "baseId": "34038", + "text": "Metachromatic leukodystrophy, late-onset" + }, + { + "baseId": "34118|34120|361083", + "text": "CK syndrome" + }, + { + "baseId": "34125|360935", + "text": "Elevated 7-dehydrocholesterol" + }, + { + "baseId": "34125|217210|217211|217212|217213|264781|360935|495314|514043|514138", + "text": "Congenital microcephaly" + }, + { + "baseId": "34125|360935", + "text": "2-3 toe syndactyly" + }, + { + "baseId": "34125|166581|166586|166598|166599|166601|166604|166605|166609|166613|166620|166623|166626|166633|166642|166666|166667|166672|166674|166675|166686|166700|166702|166712|166715|166727|166739|166742|166746|166752|166755|166769|166773|166778|166783|166789|166793|166797|166802|166811|166815|166826|166840|166850|166851|166852|166856|166864|166868|166884|166886|166889|166913|166915|166926|166932|166939|166947|166966|166974|166977|166984|166985|166998|167001|167004|167005|167007|167013|167019|167027|167040|167044|167053|167054|167069|167070|167081|167083|167088|167101|167106|167111|167112|167119|167123|167135|167137|167151|167163|167170|167172|167173|167177|167179|167180|167188|167202|167204|167212|167220|167223|167247|167260|167264|167267|167273|167278|167283|167290|167293|167296|167307|167323|167329|167336|223422|263355|263368|360935", + "text": "Small for gestational age" + }, + { + "baseId": "34164", + "text": "Association with valproate-induced liver toxicity" + }, + { + "baseId": "34211|244100|244101", + "text": "Patent ductus arteriosus 2" + }, + { + "baseId": "34220|186058|212530|221642|221645|239956|252546|271323|301262|304461|304463|309043|309071|395264|395624|456499|561169|635337|683828|683829|683831|683833|683835|683837|685200|685202|685205|686929|686931|689846|692081|765927|978371|978372|978373|978374|978375|978376|978377", + "text": "Hereditary hemochromatosis type 3" + }, + { + "baseId": "34221", + "text": "Hereditary hemochromatosis type 4" + }, + { + "baseId": "34261|34262|34263|34264|34269|34637|81680|134792|134793|134794|134795|134796|141743|141749|141751|141752|141753|141754|141755|191041|191676|202143|202144|202145|202146|202149|202150|202151|202153|202154|202155|202156|202157|202158|202160|202162|202163|202170|202171|202172|202173|202174|202175|202179|202181|202181|202182|202187|202189|202190|202192|207503|207504|240232|264363|272269|304135|304150|304163|304164|304181|304186|304187|304189|304193|304194|304197|304205|304211|304217|304222|304229|304230|304232|304242|304244|304245|304249|304251|304263|304269|304271|304274|307750|307761|307788|307793|307795|307801|307810|307824|307839|307852|307853|307860|307862|307867|307871|307873|307883|307889|307890|307898|307900|307908|312806|312809|312819|312820|312827|312850|312870|312880|312889|312891|312901|312906|312908|312909|312911|312914|312916|312919|312921|312929|312935|312940|312942|312945|312947|312949|312953|312956|312957|312974|312975|312978|312980|312983|312984|312998|312999|313005|313008|313010|313013|313017|313018|313026|313028|313038|313042|359883|369338|369344|369703|370079|371511|371534|395898|395900|395912|396148|396288|396563|396571|396572|407314|421657|426672|444211|457184|457187|457193|457202|457204|457796|457798|457816|457819|457820|458184|458186|458196|489649|502590|522991|522997|522998|523000|523257|523268|523270|523476|523477|523492|523494|523620|523623|523625|523626|523627|561944|561947|561949|561951|561955|562352|562362|562365|562367|564632|564635|564636|564638|564639|564641|567365|567370|636584|636585|636586|636587|636588|636589|636590|636591|636592|636593|636594|636595|636596|636597|636598|636599|636600|636601|636602|636603|655830|687185|687187|689903|692350|695377|700394|722848|736429|750907|766531|819945|819946|834114|834115|834116|834117|834118|834119|834120|834121|834122|834123|834124|834125|834126|834127|834128|834129|834130|834131|834132|834133|834134|834135|834136|834137|834138|834139|834140|834141|851179|852112|925012|925013|925014|925015|925016|925017|925018|925019|934089|934090|934091|934092|934093|934094|934095|934096|934097|945850|945851|945852|945853|945854|945855|955288|955289|955290", + "text": "Benign familial neonatal seizures" + }, + { + "baseId": "34261|34263|34264|141754|202158|240232|304149|304178|304180|304182|304188|304193|304197|304200|304206|304218|304226|304232|304235|304243|304249|304251|304260|304261|304264|304265|304269|304271|304274|307801|307837|307838|307854|307860|307861|307863|307864|307873|307884|307886|307887|307889|307890|307891|307900|307908|307919|312763|312782|312807|312817|312821|312837|312838|312856|312890|312894|312895|312901|312910|312915|312916|312918|312920|312923|312925|312928|312939|312944|312946|312948|312952|312953|312956|312958|312960|312979|312981|312983|312990|312999|313005|313007|313008|313009|313010|313012|313013|313017|313018|313027|313038|313040|313042", + "text": "Benign Neonatal Epilepsy" + }, + { + "baseId": "34304|215086|404820|677447|919551|920339|971005", + "text": "Cutis laxa, autosomal dominant 2" + }, + { + "baseId": "34351|331050|331071|374645|444943|970955", + "text": "Wrinkly skin syndrome" + }, + { + "baseId": "34359|34359|251291|291692|293023|293025|296355|559682|691486|695217|709053|720645|828574|859301|923359", + "text": "Amyotrophic lateral sclerosis 17" + }, + { + "baseId": "34374|513942", + "text": "CNS demyelination" + }, + { + "baseId": "34374|48413|181438|187273|187274|187330|202625|263198|263255|263351|263363|322495|354286|354287|354295|360849|361119|361148|362226|407647|481485|512868|513983|514002|514076|514090|514111|514142|514192|514193|514215|535696|550740|550741|550742|550743|550744|550745|550746|553299|590061|608934|614512|682850|858734|904214|904239|904355|905854", + "text": "Macrocephalus" + }, + { + "baseId": "34498|34503|34509|101791|101792|134035|134037|134038|134039|134040|134042|134044|134045|134047|134049|134052|134056|140408|140409|140410|140411|167689|168709|168710|168712|168718|168743|168749|169016|169039|190891|207601|208178|278308|278324|279339|279421|279500|280768|281229|281264|306597|306631|310814|310815|310825|314971|315139|316264|316544|316574|319325|319332|322446|327852|327862|333242|333266|334164|334169|335745|335746|335794|335803|335834|338745|340383|340388|340391|340750|340754|343342", + "text": "Primary Microcephaly, Recessive" + }, + { + "baseId": "34639|125784|203772|511019|535384|961353|973046", + "text": "KCNQ2-Related Disorders" + }, + { + "baseId": "34722|39421|39422|39423|39424|49397|427631|427632|514860|576286|613845|679963|682674|777022|850717|850909|855118|855119|855120", + "text": "Radial aplasia-thrombocytopenia syndrome" + }, + { + "baseId": "35747|432287|514115|514117", + "text": "Microscopic hematuria" + }, + { + "baseId": "35747|223747|384401|513894|513895|513923|513924|514113|514114|514118", + "text": "Hematuria" + }, + { + "baseId": "35796|514115", + "text": "Mild proteinuria" + }, + { + "baseId": "35796|384401", + "text": "Glomerulopathy" + }, + { + "baseId": "36140|36173|39105|39106|39106|39106|39107|50227|94253|133407|136441|136493|139786|142921|142922|142923|151879|151967|181036|181036|185427|185427|185428|185438|185443|236534|243064|243077|331636|331637|331639|331641|331643|331644|331645|331648|331650|331653|331656|331658|331659|331662|331664|331668|331672|331679|331683|331684|331686|331694|331695|331698|331701|331704|331707|331711|341892|341894|341895|341897|341898|341903|341904|341907|341916|341919|341922|341923|341928|341929|341932|341934|341935|341937|341940|341942|341944|341945|341948|341949|341956|341957|341959|341961|347245|347248|347262|347263|347266|347267|347270|347274|347278|347279|347281|347284|347285|347288|347289|347290|347292|347293|347295|347297|347313|347315|347320|347323|347325|347332|347333|347335|347337|347339|347340|347347|348571|348573|348574|348576|348581|348598|348600|348602|348608|348609|348610|348611|348613|348621|348622|348626|348628|348632|348633|348642|348644|348645|348647|348649|348652|348653|348656|348660|348669|348670|348680|353480|353481|377048|377096|379055|403342|410379|432469|468069|468948|468989|479334|479365|485542|539082|879352|879353|879354|879355|879356|879357|879358|879359|879360|879361|879362|879363|879364|879365|879366|879367|879368|879369|879370|879371|879372|879373|879374|879375|879376|879377|879378|879379|879380|879381|879382|879383|879384|879385|879386|879387|879388|879389|879390|879391|879392|879393|879394|879395|879396|879397|879398|879399|879400|879401|879402|879403|879404|879405|879406|879407|879408|879409|879410|879411|879412|879413|879414|879415|880666", + "text": "Myhre syndrome" + }, + { + "baseId": "36230|139835|186118|231108|297514|303754|304144|304196|310292|310301|310308|310324|310337|315398|315399|315400|315401|315409|321368|321414|322063|322067|322068|322098|322121|322125|322128|322139|322140|322141|322151|322153|336093|336129|345839|350281|350282|350287|351309|351310|353127|353128|353702", + "text": "Hirschsprung Disease, Dominant" + }, + { + "baseId": "36269", + "text": "Elevated basal serum calcitonin" + }, + { + "baseId": "36278|212794|983518", + "text": "Appendicitis" + }, + { + "baseId": "36301|802092", + "text": "Renal hypoplasia/aplasia" + }, + { + "baseId": "36445", + "text": "Classical galactosemia, homozygous Duarte-type" + }, + { + "baseId": "36672", + "text": "Inflammatory bowel disease 5" + }, + { + "baseId": "37785", + "text": "fluorouracil and oxaliplatin response - Efficacy" + }, + { + "baseId": "37785", + "text": "cyclophosphamide and epirubicin response - Efficacy, Toxicity/ADR" + }, + { + "baseId": "37785|227807|227832", + "text": "Platinum compounds response - Toxicity/ADR" + }, + { + "baseId": "37785|187973|227807|538599", + "text": "cisplatin response - Toxicity/ADR" + }, + { + "baseId": "38302|227781|227783|227800", + "text": "acenocoumarol response - Dosage" + }, + { + "baseId": "38302|227781|227783|227800", + "text": "phenprocoumon response - Dosage" + }, + { + "baseId": "38302|287330|287354|287389|287403|287410|288101|288131|290764|290782|290805|290806|290826|290827|290869|291016|291037|291053|291059|291075|291077|325114|334774|353339", + "text": "Vitamin K-Dependent Clotting Factors" + }, + { + "baseId": "38414|166084|253402|800868|800869|800870|800871|800872|800873|800874|800875|800876|800877|800878|800879|800880|800881|800882|800883|800884|800885|800886|800887|800888|800889|800890|800891|800892|800893|800894|800895|800896|800897|800898", + "text": "Three Vessel Coronary Disease" + }, + { + "baseId": "38432|40114|40115|165819|360806|513906|513959|514053|568036|681597|971422", + "text": "Tremor" + }, + { + "baseId": "38432|486013", + "text": "Cogwheel rigidity" + }, + { + "baseId": "38459|136747|136896|169549|169560|171242|198030|215566|215567|215568|215569|226117|247164|247165", + "text": "Malignant hypothermia" + }, + { + "baseId": "38538|187198|187198|187200|187201|187202|211934|211940|215011|215012|243998|411026|513671|553402|553403|578585|583133|792080|792081|805122|966178|966179|966181|971165", + "text": "Infantile cerebellar-retinal degeneration" + }, + { + "baseId": "38539|38540|38541|38542|38543|38544|53316|53317|133715|133720|176739|176746|178232|178233|178277|178309|208421|231325|231329|231330|269772|272126|361230|376793|376801|378844|378858|378864|378867|430028|430029|433340|445921|467703|490935|492667|497861|497892|506476|506802|507230|532015|532090|532383|553005|646969|677308|694220|694221|694223|695783|704457|704458|704462|798725|855114", + "text": "Baraitser-Winter Syndrome 2" + }, + { + "baseId": "38552|38552|139981|258664|258672|259943|311573|311576|311579|311581|311582|311586|311592|311593|317166|317167|317169|317170|323194|323197|323198|323201|323202|323203|323776|353158|373592|866511|866512|866513|866514|866515|866516|868528|900535|974940|974941", + "text": "Multisystemic smooth muscle dysfunction syndrome" + }, + { + "baseId": "38552", + "text": "alterations of great arteries and veins" + }, + { + "baseId": "38557|38558|38559|311041|311043|311044|311047|311051|311052|311056|311057|316378|316389|316390|322470|323094|323096|323097|323104|323107|323110|323116|724065|788842|790980|790981|866275|866276|866277|866278|866279|866280|866281|866282|866283|868502|903573", + "text": "Hypermethioninemia due to adenosine kinase deficiency" + }, + { + "baseId": "38566|38567", + "text": "Hyperbiliverdinemia" + }, + { + "baseId": "38576|777951", + "text": "Acatalasia" + }, + { + "baseId": "38580|677115|677117|677119|789169|789170|789398|963093", + "text": "Prune belly syndrome" + }, + { + "baseId": "38581|38582|38583|38584|38585|205279|237364|260036|318925|318927|318930|318932|318936|318937|318943|318944|318952|318960|318961|318976|318979|318982|318986|318988|318999|319001|319002|319003|319004|319015|319018|319023|319025|319026|319027|319029|319030|319035|319037|319038|327337|327338|327339|327341|327342|327343|327348|327368|327370|327371|327372|327383|327386|327387|327393|327394|327395|327397|327401|327402|327404|327405|327419|327423|327437|327439|327447|327453|327458|327459|327460|327471|327472|327475|333543|333546|333555|333562|333565|333568|333569|333572|333573|333580|333585|333592|333594|333595|333604|333615|333616|333619|333629|333633|333634|333639|333642|333651|333658|333659|333660|333666|333672|333673|333675|333677|333692|335248|335254|335259|335265|335266|335269|335270|335277|335284|335286|335295|335296|335301|335312|335315|335317|335343|335345|335346|335349|335350|335356|335362|335366|372618|375515|408801|552167|620855|620856|622419|677182|730897|738945|753711|753712|769406|784530|798667|816477|855117|870717|870718|870719|870720|870721|870722|870723|870724|870725|870726|870727|870728|870729|870730|870731|870732|870733|870734|870735|870736|870737|870738|870739|870740|870741|870742|870743|870744|870745|870746|870747|870748|870749|870750|870751|870752|870753|870754|870755|870756|872306|872307|872308|872309|872310|872311|872312|872313|872314|872315|872316|919484|919485|919486|919487|919488|961654|965226|970978", + "text": "Porencephaly 2" + }, + { + "baseId": "38583|38584|38585|48462|48463", + "text": "Hemorrhage, intracerebral, susceptibility to" + }, + { + "baseId": "38590|360853", + "text": "Nail dystrophy" + }, + { + "baseId": "38590|360853|514024", + "text": "Abnormality of the skin" + }, + { + "baseId": "38590|360853", + "text": "Skin erosion" + }, + { + "baseId": "38590|86021|86023|195809|209348|227262|227263|227264|251193|251196|251197|251198|251199|251201|251202|251203|264167|290937|290938|290956|290958|290964|290965|290966|290972|290973|290978|290979|290986|290987|290988|290989|290995|290996|291002|291003|291004|291010|291013|291021|291022|291878|291880|291892|291893|291894|291900|291901|291913|291929|291933|291942|291947|291948|291950|291953|291954|291955|291963|291964|291976|291979|291980|291982|291983|295187|295198|295199|295200|295203|295205|295206|295207|295222|295224|295234|295235|295236|295237|295238|295241|295252|295266|295284|295285|295286|295287|295295|295299|295301|295302|295310|295311|295315|295323|295330|295332|295334|295335|295336|295345|295464|295465|295466|295467|295478|295479|295482|295483|295496|295497|295498|295505|295510|295521|295525|295544|295547|295548|295559|295564|295565|295566|359454|359480|359543|359583|425565|443477|494081|513263|578420|620128|620129|620130|620131|620132|620133|677418|698155|708910|708913|708916|720512|720513|720514|720515|720516|720518|720519|734130|734131|734132|734139|734140|734141|744020|748332|748333|748334|748336|748338|748340|748342|748343|748344|748346|748349|748351|759205|759207|759433|759442|763956|763959|763961|763967|763969|763977|763979|763985|763996|774826|774828|774835|774838|774840|774843|774881|774889|781703|781718|781724|787197|889253|889254|889255|889256|889257|889258|889259|889260|889261|889262|889263|889264|889265|889266|889267|889268|889269|889270|889271|889272|889273|889274|889275|889276|889277|889278|889279|889280|889281|889282|889283|889284|889285|889286|889287|889288|889289|889290|889291|889292|889293|889294|889295|889296|889297|889298|889299|889300|889301|889302|889303|889304|889305|889306|889307|889308|889309|889310|889311|889312|889313|889314|889315|889316|889317|889318|889319|889320|889321|889322|889323|889324|889325|889326|889327|891674|891675|891676|891677|891678|891679|891680|891681|891682|891683|917439|961266", + "text": "Dystrophic epidermolysis bullosa" + }, + { + "baseId": "38590|187110|496362", + "text": "Epidermolysis bullosa dystrophica, AD, Epidermolysis bullosa dystrophica, AR" + }, + { + "baseId": "38592|106940|106974|106975|610623|610624|610625|907566|918715|918716|918717", + "text": "Polymicrogyria with or without vascular-type ehlers-danlos syndrome" + }, + { + "baseId": "38600|267754|282483|282494|404746|538337|619998|677276", + "text": "Stickler syndrome, type 5" + }, + { + "baseId": "38605|38606|55719|55720|55721|55722|55723|55724|55725|55726|55727|55729|55730|55731|55732|55733|55734|55735|174359|174360|174361|174362|174365|174366|174367|174368|174370|174371|174374|174376|174497|174500|174501|174502|174506|174506|191960|193796|194635|195091|195498|195517|195770|227296|229440|229442|229444|229445|229447|229448|229452|229455|229461|229462|229466|229470|229475|229479|252330|266947|270329|270741|299883|299889|299892|299895|299897|299899|299901|299904|299906|302506|302507|302508|302511|302512|302513|302522|302532|302534|302535|302536|302537|306913|306914|306916|306917|306918|306919|306922|306923|306924|306925|306926|306934|306935|307189|307191|307199|307201|307202|307207|307208|307211|307213|307214|368659|406861|496460|496461|501733|501959|537810|552434|655743|795841|798574|895822|895823|895824|895825|895826|895827|895828|895829|895830|895831|895832|895833|895834|895835|895836|895837|895838|895839|895840|895841|895842|895843|895844|895845|895846|895847|896225|896226|896227|896228|896229|896230|896231", + "text": "Fibrochondrogenesis 2" + }, + { + "baseId": "38615|38616|614221", + "text": "Type I complement component 8 deficiency" + }, + { + "baseId": "38626|125779|125780|125781|125782|125783|153633|153634|153635", + "text": "Efavirenz response" + }, + { + "baseId": "38626|227805", + "text": "nevirapine response - Other" + }, + { + "baseId": "38626", + "text": "efavirenz response - Dosage" + }, + { + "baseId": "38626", + "text": "methadone response - Dosage" + }, + { + "baseId": "38626", + "text": "efavirenz response - Toxicity/ADR" + }, + { + "baseId": "38628|38629|389689|389696|699194|699196|710044|721568", + "text": "Megaloblastic anemia due to dihydrofolate reductase deficiency" + }, + { + "baseId": "38630|38631|38632|38633|38634|38635|38636|205191|270131|335821|335826|335832|335839|335841|335842|335851|335852|335855|335858|335866|335873|335874|335879|335883|335884|345530|345533|345542|345549|345552|345553|345555|345557|345560|345561|345568|345582|345585|345590|345591|350134|350135|350136|350139|350140|350141|350142|350144|350145|350148|350149|350151|350152|350153|350154|350156|351186|351189|351190|351194|351196|351198|351199|351202|351207|351209|351210|620664|620665|622785|682487|689211|689212|694571|742471|886299|886300|886301|886302|886303|886304|886305|886306|886307|886308|886309|886310|886311|886312|886313|886314|886315|886316|886317|886318|886319|886320|886321|886322|919921|951130", + "text": "Hypercalcemia, infantile, 1" + }, + { + "baseId": "38634", + "text": "Muscle cramps" + }, + { + "baseId": "38637|38638|140835|140836|140837|171896|190998|193476|193775|194159|232060|232065|232066|245096|245098|245099|245100|245103|245104|245105|245106|256729|256730|256731|256732|256733|256735|256736|256737|266369|270033|270038|270739|273947|332307|332309|332315|332316|332324|332339|332340|332346|342461|342466|342468|342474|342483|342485|342487|342489|342497|342499|342506|347871|347874|347877|347881|347886|347887|347890|347893|347901|347904|347906|347908|347910|349204|349206|349213|349214|349216|349217|349219|349220|349223|349227|349232|349237|349238|349241|353483|360363|360364|361039|363769|376068|376078|376984|376986|376990|376993|377000|379110|379133|379135|379144|379145|379148|415611|432019|446014|468177|468184|468185|468190|468192|468193|469466|469472|469473|469477|469483|469491|469500|469927|469929|469936|469941|469942|469945|489958|492299|506637|507436|532373|532378|532380|532387|532395|532396|532402|532403|532407|532416|532420|532425|532432|532434|532439|532451|532493|532496|532501|532507|532509|532513|532514|532518|532522|532835|532836|532840|532845|532846|532847|536972|538482|570293|570294|570299|570301|572027|572029|572033|572035|572038|572039|572042|572048|572049|572720|572723|572724|572725|572728|572731|572732|574789|574790|574791|574792|574793|574794|574795|574796|584032|584381|610131|622449|647397|647398|647399|647400|647401|647402|647403|647404|647405|647406|647407|647408|647409|647410|647411|647412|647413|647414|647415|647416|647417|652973|653587|653588|694292|694293|694294|694297|694298|695797|704705|704706|704709|704710|704711|727836|727837|727838|727839|756606|760547|772280|772281|772290|776514|776518|778601|785987|797711|800095|847015|847016|847017|847018|847019|847020|847021|847022|847023|847024|847025|847026|847027|847028|847029|847030|847031|847032|847033|847034|847035|847036|847037|847038|847039|847040|847041|847042|847043|847044|851779|852297|852298|852828|852943|879744|879745|879746|879747|879748|879749|879750|879751|879752|879753|879754|879755|879756|879757|879758|879759|879760|879761|880680|880681|928768|928769|928770|928771|928772|928773|928774|928775|928776|928777|928778|928779|928780|928781|928782|928783|938493|938494|938495|938496|938497|938498|938499|938500|938501|950581|950582|950583|950584|950585|950586|950587|950588|950589|950590|950591|950592|950593|950594|958493|958494|958495|958496|958497|958498|958499|958500|960273|960909", + "text": "Hereditary sensory neuropathy type IE" + }, + { + "baseId": "38642|38643|38644", + "text": "Calcification of joints and arteries" + }, + { + "baseId": "38646|672204", + "text": "Pregnancy loss, recurrent, susceptibility to, 3" + }, + { + "baseId": "38651|38652|38653|38654|539060|581917", + "text": "Geleophysic dysplasia 2" + }, + { + "baseId": "38660|50024|138152|138154|141073|141074|141075|141076|151752|181639|181641|181642|210711|210712|238255|238258|280141|280156|280159|280161|280165|280166|280167|280504|280508|280509|280521|280522|280523|281814|281817|281818|281821|281822|281825|281943|281944|281945|281954", + "text": "Multiple Cutaneous and Uterine Leiomyomas" + }, + { + "baseId": "38664|38665|38666|38666|38667|38668|38669|38670|38671|38674|48186|138203|138204|138205|138207|213546|227183|227183|239097|239099|239101|239102|239103|239104|239104|239105|239106|239106|239107|250899|250902|250903|250904|250905|288577|288595|288596|289352|289358|393297|393298|393299|393303|393309|393311|393315|393317|393319|393322|393324|393326|393368|393371|393379|393384|393392|393394|393396|393498|393498|393500|393500|393503|393504|393508|393518|393520|393523|393538|393545|393557|393713|393716|393730|393732|393733|393735|393743|393746|393746|393749|393750|424448|428133|428133|451830|451837|451842|451850|451852|451853|451854|452031|452032|452040|452042|452044|452054|452056|452058|452064|452066|452073|452074|452078|452082|452092|452094|452158|452161|452163|452164|452167|452168|452169|452172|452174|452262|452262|452263|452265|452269|452289|452291|452293|452293|452294|518871|518873|518878|518881|518883|518887|518888|518890|518893|518894|518902|518904|518904|518907|518909|518915|519065|519066|519071|519073|519077|519089|519091|519096|558796|558798|558800|558802|558804|558806|558808|558810|558812|558814|558816|558818|559337|559339|559341|559343|559345|561187|561189|561191|561194|561198|562180|562373|562381|562384|562387|562407|562408|624050|630893|630894|630895|630896|630897|630898|630899|630900|630901|630902|630903|630904|630905|630906|630907|630908|630909|630910|630911|630912|630913|630914|630915|630916|630917|630918|630919|630920|630921|630922|630923|630924|630925|630926|630927|630928|630929|630930|630931|630932|630933|630934|630935|630936|630937|630938|630939|630940|630941|630942|630943|630944|630945|630946|630947|651029|651106|683539|686323|686324|686325|686326|686327|686328|686330|689728|689729|689730|689731|691290|691291|691292|691293|691295|691296|691297|695173|697818|697819|697820|697821|708543|733761|747961|759191|763596|763597|763604|777347|781548|789281|819319|819320|827472|827473|827474|827475|827476|827477|827478|827479|827480|827481|827482|827483|827484|827485|827486|827487|827488|827489|827490|827491|827492|827493|827494|827495|827496|827497|827498|827499|827500|827501|827502|827503|827504|827505|827506|827507|827508|827509|827510|827511|827512|827513|827514|827515|827516|827517|851021|851023|851530|923031|923032|923033|923034|923035|923036|923037|923038|923039|923040|923041|923042|923043|923044|923045|931740|931741|931742|931743|931744|931745|931745|931746|931747|931748|931749|931750|931751|931752|931753|931754|931755|943304|943305|943306|943307|943308|943309|943310|943311|943312|943313|943314|943315|943316|943317|953325|953326|953327|953328|953329|953330|953331|953332|953333|953334", + "text": "Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency" + }, + { + "baseId": "38664|38666|47727|207040|207041|428130|428131", + "text": "Leukemia, acute myeloid, susceptibility to" + }, + { + "baseId": "38666|38672|38673|38674|38674|38675|38676|138203|138204|138204|138205|138205|138206|138207|213545|213546|227183|239097|239097|239099|239101|239102|239102|239103|239104|239104|239105|239106|239107|239107|250899|250899|250902|250902|250903|250904|250904|250905|250905|250906|288558|288559|288562|288566|288567|288569|288577|288577|288595|288595|288596|288596|288605|288614|289333|289338|289350|289351|289352|289352|289358|289358|289361|292356|292357|292359|292371|292373|292382|292386|292390|292391|292392|292482|292483|292484|292486|292489|292490|292491|292497|292499|292503|292504|292508|393131|393297|393298|393299|393299|393303|393309|393311|393315|393317|393319|393322|393324|393326|393368|393371|393379|393384|393392|393394|393396|393498|393498|393500|393500|393500|393503|393504|393508|393518|393520|393523|393538|393538|393545|393557|393557|393713|393713|393716|393730|393732|393733|393735|393743|393746|393746|393749|393750|428130|428133|428133|451830|451837|451842|451850|451852|451853|451854|452031|452032|452040|452042|452044|452054|452056|452058|452064|452066|452073|452074|452078|452082|452092|452094|452158|452161|452163|452164|452167|452168|452169|452172|452174|452262|452262|452263|452265|452265|452269|452289|452291|452293|452294|518871|518871|518873|518878|518881|518883|518887|518888|518890|518893|518894|518902|518904|518907|518909|518915|519065|519066|519071|519073|519077|519089|519091|519096|558796|558798|558800|558802|558804|558806|558808|558810|558812|558814|558816|558818|559337|559339|559341|559343|559345|561187|561189|561191|561194|561194|561198|562180|562373|562381|562384|562387|562407|562408|612083|630893|630894|630895|630896|630897|630898|630899|630900|630901|630902|630903|630904|630905|630906|630907|630908|630909|630910|630911|630912|630913|630914|630915|630916|630917|630918|630919|630920|630921|630922|630923|630924|630925|630926|630927|630928|630929|630930|630931|630932|630933|630934|630935|630936|630937|630938|630939|630940|630941|630942|630943|630944|630945|630946|630947|651029|651106|683539|686323|686324|686325|686326|686327|686328|686330|689728|689729|689730|689731|691290|691291|691292|691293|691295|691296|691297|695173|697818|697819|697820|697821|708543|733761|747961|759191|763596|763597|763602|763604|777347|781548|789281|790325|790326|790327|819319|819320|827472|827473|827474|827475|827476|827477|827478|827479|827480|827481|827482|827483|827484|827485|827486|827487|827488|827489|827490|827491|827492|827493|827494|827495|827496|827497|827498|827499|827500|827501|827502|827503|827504|827505|827506|827507|827508|827509|827510|827511|827512|827513|827514|827515|827516|827517|851021|851023|851530|887856|887857|887858|887859|887860|887861|887862|887863|887864|887865|887866|887867|887868|887869|887870|887871|887872|887873|923031|923032|923033|923034|923035|923036|923037|923038|923039|923040|923041|923042|923043|923044|923045|931740|931741|931742|931743|931744|931745|931746|931747|931748|931749|931750|931751|931752|931753|931754|931755|943304|943305|943306|943307|943308|943309|943310|943311|943312|943313|943314|943315|943316|943317|953325|953326|953327|953328|953329|953330|953331|953332|953333|953334|970752", + "text": "Lymphedema, primary, with myelodysplasia" + }, + { + "baseId": "38679", + "text": "Aspartate aminotransferase, serum level of, quantitative trait locus 1" + }, + { + "baseId": "38680|38681|104297|104298|134626|134627|205760|207676|207677|207679|226648|226648|240590|240591|240592|259921|361450|370290|370291|370301|370307|370318|370336|370807|370815|370817|371129|371144|372890|372907|384406|397053|397219|397223|397237|397395|397398|397407|413805|428970|459041|459048|459052|459054|459362|459363|459365|459903|459904|459908|459909|480551|480552|480553|480554|480555|480559|502869|503054|511823|511828|511828|513298|524440|524444|524446|524727|524733|524739|524884|525019|525024|525026|550363|552138|553173|563097|563099|565812|565815|568864|568866|568868|590061|614342|614343|638106|638107|638108|638109|638110|638111|638112|651895|651897|652151|655951|678940|687468|687469|687470|687472|687473|687476|687477|759791|767315|783367|790874|798617|798618|802169|816364|820032|820104|820105|821995|821996|821997|821998|821999|822000|822001|822002|822268|822269|835935|835936|835937|835938|835939|835940|835941|851258|852176|906193|906194|925521|925522|925523|925524|934683|940935|946534|946535|946536|946537|946538|946539|955773|955774|955775|961294|964322|964323|970903|975662", + "text": "Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant" + }, + { + "baseId": "38683|38684|38685|38686|48257|48258|48259|48260|82378|104323|104324|104326|104328|104329|104333|104334|134646|134649|134649|134652|134653|134654|141218|141218|141221|141222|141223|141224|152907|171801|171802|171803|202652|202654|202655|202656|202658|202661|202663|202664|202666|202667|202668|202669|202669|202670|202671|202672|202675|202676|202677|202678|202680|202681|205273|205273|205274|207945|207945|215446|225816|226651|231830|231831|231831|231833|231834|231836|231837|231838|231839|231840|231841|231842|231844|241528|241529|244773|244777|244778|244780|244782|244785|244787|244791|244793|244793|244794|244795|244797|244800|244803|244810|244814|244815|263825|264518|264589|264589|323830|323834|323848|329924|331237|360033|360082|360939|361140|361141|361203|363682|372139|372862|372867|372872|373105|374861|398860|398865|398867|398874|398876|399031|399032|399034|399332|399340|399343|399345|399346|399587|408604|421912|421913|424660|429407|429408|462048|462052|462055|462057|462059|462310|462312|462315|482276|482276|495730|503713|504002|504011|504018|504233|504235|504242|504700|527011|527015|527017|527018|527021|527029|527224|527229|527234|527237|527240|527242|527244|527544|527546|551720|552155|552157|552160|553385|565352|565355|566731|566732|566738|566744|566746|567923|567926|567928|567929|567934|567934|567941|571707|571713|571720|571731|579767|579773|579777|611410|614369|640993|640994|640995|640996|640997|640998|640999|641000|641001|641002|641003|641004|641005|641006|641007|641008|652460|652688|684314|684316|687937|687938|687939|687940|687942|687946|693171|753264|769021|769025|784347|788865|791215|791216|791217|791218|791219|791220|815997|820452|820453|822058|822059|822060|822061|822062|822063|822064|822065|822066|822067|822068|839694|839695|839696|839697|839698|839699|839700|839700|839701|839702|839703|839704|839705|839706|839707|839708|839709|839710|839711|839712|839713|839714|839715|839716|839717|839718|852467|855108|859953|904304|904916|904917|904918|904919|904920|904921|904922|904923|904924|904925|904926|904927|904928|904929|904930|904931|904932|904933|904934|904935|904936|904937|904938|904939|904940|917108|917108|919420|919421|920314|926574|926575|926576|926577|926578|926579|926580|936038|936039|936040|936041|936042|941028|947919|947920|947921|947922|947923|956820|956821|956822|956823|956824|963749|964381|967250|967276|969373|976661|980945|983304", + "text": "Mental retardation, autosomal dominant 6" + }, + { + "baseId": 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+ "text": "Epilepsy, focal, with speech disorder and with or without mental retardation" + }, + { + "baseId": "38690|38691|38692|38693|38694|38695|134597|134598|134599|205137|250763|250764|286995|287002|287004|287017|287018|287019|287027|287028|287042|287043|287045|287047|287048|287050|287054|287057|287059|287061|287063|287064|287068|287081|287082|287086|287758|287759|287760|287777|287789|287790|287799|287802|287803|287806|287810|287812|287813|287817|287818|287819|287820|287821|287824|287825|287826|287828|287829|287830|290135|290139|290140|290143|290146|290150|290159|290161|290166|290174|290179|290180|290192|290194|290224|290226|290237|290238|290523|290527|290544|290545|290546|290547|290551|290553|290554|290555|290558|290560|290564|290568|290577|290585|290587|290589|290592|290600|290620|290621|290622|290624|290626|290646|290647|290648|428086|428089|451373|451374|451376|451378|451539|451540|451730|451734|451736|451738|451740|451741|451742|451751|451754|451761|451768|518510|518516|518590|518592|558253|558255|558626|558628|561878|608900|608901|619840|619841|630408|630409|630410|630411|630412|695150|695151|733541|747743|774721|777304|781425|792747|819265|826902|826903|826904|826905|826906|826907|826908|826909|826910|826911|885326|885327|885328|885329|885330|885331|885332|885333|885334|885335|885336|885337|885338|885339|885340|885341|885342|885343|885344|885345|885346|885347|885348|885349|885350|885351|885352|885353|885354|885355|885356|885357|885358|885359|885360|885361|885362|885363|885364|885365|885366|885367|885368|885369|885370|885371|885372|885373|885374|885375|885376|885377|885378|885379|885380|922896|922897|922898|931549|931550|931551|939907|943083|943084|953173|953174|953175|953176|953177|959652", + "text": "Congenital myasthenic syndrome 12" + }, + { + "baseId": "38696|167405|792788", + "text": "Hypertriglyceridemia, transient infantile" + }, + { + "baseId": "38697", + "text": "FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, SUSCEPTIBILITY TO" + }, + { + "baseId": "38697|205022|361109|361110|539435|558220|965228", + "text": "Ischemic stroke" + }, + { + "baseId": "38699|171700|610688|677039|682735", + "text": "Surfactant metabolism dysfunction, pulmonary, 5" + }, + { + "baseId": "38703|38704|38705", + "text": "HEMOGLOBIN H HYDROPS FETALIS SYNDROME" + }, + { + "baseId": "38706", + "text": "Delta-beta thalassemia" + }, + { + "baseId": "38710", + "text": "Carbamazepine hypersensitivity" + }, + { + "baseId": "38711|48573|195638|196233|229272|229273|229274|301312|301514|439703|439705|443694|454655|454657|454659|454661|454732|455190|455196|455462|455471|501015|520798|520800|520802|520815|520818|521053|521056|521059|521194|521197|521199|521250|521252|521260|537471|537471|559962|560171|560173|560278|560280|560282|562883|562885|562891|564834|564842|564861|609578|633511|633512|633513|633514|633515|633516|633517|633518|633519|633520|633521|651369|691758|691760|698854|698855|698856|721252|749269|782188|792641|819561|830381|830382|830383|830384|830385|830386|830387|830388|830389|830390|830391|830392|830393|830394|830395|830396|830397|830398|830399|852225|923898|923899|923900|923901|923902|923903|932741|932742|932743|932744|932745|932746|932747|944426|944427|944428|944429|944430|944431|944432|954060|954061|960556", + "text": "Usher syndrome, type 3B" + }, + { + "baseId": "38712", + "text": "Multiple sclerosis susceptibility 1" + }, + { + "baseId": "38713|38714", + "text": "Immunoglobulin kappa light chain deficiency" + }, + { + "baseId": "38723|38724|38725|38726|38727|38728|181167|181168|190093|190094|207799|207800|207801|253912|354170|408021|429138|429140|429142|429144|429146|429148|429150|444684|446859|481972|486751|583108|654135|681828|791015|798628|798919|800359|818283|919304|920288|965977|965978|965979|965980|965981|965982|966038|966039|970497|980940", + "text": "Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation" + }, + { + "baseId": "38734|39805|40086", + "text": "Barrett esophagus/esophageal adenocarcinoma" + }, + { + "baseId": "38735|38736|38737|38738|38739|191525", + "text": "Retinitis pigmentosa 62" + }, + { + "baseId": "38745|38746|307905|307909|307912|307914|307918|307920|307921|307923|307924|307926|307930|307936|307948|307949|307950|307951|312199|312201|312204|312205|312206|312208|312210|312211|312212|312215|312218|312223|312229|312230|312231|312237|312238|312242|312248|312257|312264|312265|312275|312278|312279|312280|312281|312282|317907|317911|317920|317922|317926|317927|317930|317935|317938|317939|317945|317947|317948|317950|317951|317962|317963|317969|317973|317974|318403|318405|318406|318424|318425|318426|318428|318437|318439|318448|318450|318451|318460|318467|318473|318481|318489|318512|353856|626188|901705|901706|901707|901708|901709|901710|901712|901713|901714|901715|901716|901717|901718|901719|901720|901721|901722|901723|901724|901725|901726|901727|901728|901729|901730|901731|901732|901733|901734|901735|901736|901737|901738|901739|901740|901741|901742|901743|901744", + "text": "Diaphyseal medullary stenosis-bone malignancy syndrome" + }, + { + "baseId": "38748|38749|38750|38751|38752|86122|86124|237596|264277|269079|270630|305332|305333|305336|305337|305339|305340|305342|305350|305352|305361|305364|305369|305374|305376|305380|305383|305384|305386|309168|309169|309174|309182|309184|309187|309189|309191|309192|314427|314428|314429|314430|314434|314438|314442|314443|314444|314446|314448|314450|314453|314455|314456|314457|314460|314461|314465|314469|314475|314477|314478|314479|314480|314483|314509|513426|513427|575491|622729|622730|622731|622732|622733|622734|622735|622736|622737|624067|679656|736677|899607|899608|899609|899610|899611|899612|899613|899614|899615|899616|899617|899618|899619|899620|899621|899622|899623|899624|899625|899626|899627|899628|899629|899630|899631|900500|900501|919154|919155", + "text": "Idiopathic basal ganglia calcification 1" + }, + { + "baseId": "38753|920227", + "text": "Narcolepsy 7" + }, + { + "baseId": "38754|53636|53641|53680|175565|189930|189947|241811|337435|360038|426055|528396", + "text": "Sick sinus syndrome 3, susceptibility to" + }, + { + "baseId": "38755|38756|135087|135088|135089|135090|135091|135092|135093|207928|207929|207930|254377|254379|254380|254383|315700|315702|315703|315705|315706|315712|315713|322599|322637|322641|322655|322661|322664|322666|322672|322676|322677|322691|322692|328778|328780|328793|328794|328795|328803|328820|328821|328830|330006|330008|330012|330015|330021|330029|330035|583113|869038|869039|869040|869041|869042|869043|869044|869045|869046|869047|869048|869049|869050|869051|872168|872169|872170|872171", + "text": "Distal arthrogryposis type 1B" + }, + { + "baseId": "38759|208598|430214|430215|430216|430217|469804|470212|694415|695821|704986|716446|728184|847677|847678|847679|950783|958635", + "text": "Hypoglycemia, neonatal, simulating foetopathia diabetica" + }, + { + "baseId": "38765|38766|38767|38768|38769|46934|46935|46936|46937|46938|46939|46940|46941|46942|46943|46944|76592|76593|76594|125917|125918|125919|171824|171825|171826|171827|171828|171829|171830|171831|171832|171833|171834|171835|171836|171837|171838|171839|171840|171841|171842|171843|171844|171845|227280|296361|296367|296369|296374|296377|296378|296381|296382|296383|296393|296400|296402|296403|296413|298190|298204|298208|298210|298211|298212|298215|298217|298220|298221|298222|298223|298224|298227|298228|298231|298234|298242|298245|298246|298247|302301|302304|302305|302306|302307|302309|302310|302316|302317|302319|302321|302322|302324|302326|302327|302336|302337|302340|302347|302348|302354|302358|302376|302379|302380|302381|302519|302521|302526|302527|302552|302554|302555|302563|302570|302577|302578|302581|302585|302587|302590|302591|302592|302618|302619|302620|302622|302628|302633|302650|302651|302657|302658|302660|438307|486382|540579|721299|790526|893576|893577|893578|893579|893580|893581|893582|893583|893584|893585|893586|893587|893588|893589|893590|893591|893592|893593|893594|893595|893596|893597|893598|893599|893600|893601|893602|893603|893604|893605|893606|893607|893608|893609|896062|896063|896064|961273|961510|964244|964245|964246|966615|970150", + "text": "Hereditary diffuse leukoencephalopathy with spheroids" + }, + { + "baseId": "38774|38775|168098|168100|168101|168102|168103|168104|168799|172288|172289|172291|217240|217241|217242|217243|217244|291260|291272|291275|291279|291299|292293|292300|295681|295683|295701|295716|295816|295827|295829|295836|313508|319315|481065|481066|682840|718173|918550|918551|965215|977201", + "text": "Robinow syndrome, autosomal dominant 1" + }, + { + "baseId": "38780|38781|59533|59534|578370|970515", + "text": "Agnathia-otocephaly complex" + }, + { + "baseId": "38782|38783|622429|964431|983645", + "text": "Familial partial lipodystrophy 4" + }, + { + "baseId": "38784|38785|38786|38787|38788|38789|38790|195282|195616|227493|227494|227495|468442|469323|469728|469744|469746|470364|470366|532691|532694|533089|570471|570476|572179|572888|574862|574863|584837|647638|647639|647640|647641|647642|647643|647644|647645|647646|647647|647648|647649|647650|647651|716156|716157|716158|727896|741576|756702|756703|772380|772381|791887|821230|847225|847226|847227|847228|847229|847230|847231|847232|847233|847234|928823|928824|928825|928826|938562|938563|938564|950657|950658|950659|950660|950661|958527|958528|960280", + "text": "Spondyloenchondrodysplasia with immune dysregulation" + }, + { + "baseId": "38795|40511|40513|50329|50330|50331|215529|226723|263845|273903|275469|327476|327497|327498|337334|337339|337341|337345|337346|337348|343600|343601|343604|343606|343608|345115|345118|345119|612449|620572|667832|668752|668893|671983|671984|671985|671986|671987|671988|671999|740627|876892|876893|876894|876895|876896|876897|876898|876899|876900|876901|876902|876903|876904|876905|876906|876907|880478", + "text": "Osteogenesis imperfecta, type VI" + }, + { + "baseId": "38805", + "text": "Protein Z deficiency" + }, + { + "baseId": "38810|38811", + "text": "Bent bone dysplasia syndrome" + }, + { + "baseId": "38815|38816|38817|299872|299876|299879|299880|302492|302497|302501|302502|302505|306907|306908|306909|307182|307185|307186|455509|455616|456335|456344|521554|521555|522226|522229|539436|539440|560682|560760|560762|560765|560767|560776|563511|634815|634816|634817|634818|634819|634820|634821|634822|735606|831808|831809|831810|831811|831812|831813|831814|831815|831816|851070|858662|858663|895817|895818|895819|895820|895821|924327|933274|933275|933276|933277|944965|944966|944967|944968|944969|944970|944971|944972", + "text": "Proteasome-associated autoinflammatory syndrome 1" + }, + { + "baseId": "38832", + "text": "Congenital myopathy with cores" + }, + { + "baseId": "38843|135661|201395|201407|391627|859024|922331|976644|976645", + "text": "Episodic ataxia type 9" + }, + { + "baseId": "38843", + "text": "SCN2A-related condition" + }, + { + "baseId": "38847|38848|204993|204994", + "text": "Peeling skin syndrome 4" + }, + { + "baseId": "38849|38850", + "text": "Spermatogenic failure 8" + }, + { + "baseId": "38853|614381", + "text": "Okt4 epitope deficiency" + }, + { + "baseId": "38862|38863|38864|38865|49466|242958|242961|329600|329602|329604|329606|329607|329614|339838|339843|339850|339862|339878|339888|339896|339905|345603|345607|345611|345612|345613|345614|345615|345621|345622|346931|346932|346943|346949|346958|346959|346973|376529|402488|403073|426726|426726|468759|574607|626463|822139|878266|878267|878268|878269|878270|878271|878272|878273|878274|878275|878276|878277|878278|878279|878280|878281|878282|878283|878284|878285|878286|878287|878288|878289|880569|880570", + "text": "Acrodysostosis 1 with or without hormone resistance" + }, + { + "baseId": "38868|38869|190071|190072|190073|227389|552202|791743|980553", + "text": "Hypothyroidism, congenital, nongoitrous, 6" + }, + { + "baseId": "38876|188095|310969|310971|310973|310986|310987|310991|310993|311004|311007|311008|311009|316280|316281|316284|316300|316302|316305|316310|316311|316317|316318|316324|316328|316336|316339|316340|322373|322376|322377|322378|322379|322380|322387|322388|322390|322392|322403|322410|322961|322965|322966|322977|322983|322986|322998|322999|323003|866241|866242|866243|866244|866245|866246|866247|866248|866249|866250|866251|866252|866253|866254|866255|868500", + "text": "Quebec platelet disorder" + }, + { + "baseId": "38882|143263|143264|205334|214759|237814|237815|264811|362166|425234|481426|511146|552248|624872|792160|792161|858270|917760|961637|971189", + "text": "N-terminal acetyltransferase deficiency" + }, + { + "baseId": "38890|48505|48506|48507|96880|138333|138335|170111|181481|181482|181483|181484|188071|190610|209050|209052|209053|213669|257839|257840|260327|268639|380059|384426|424676|470828|472154|472155|481225|512682|535170|535357|535358|550379|550655|552258|573882|575415|611451|624875|650055|650056|650057|650058|653785|653786|677330|679813|679814|694884|695906|706232|706233|800316|800317|850063|858796|951803|960383|963977|964903|964904|967283|969761|969762|969763|969764|969765|969766|969767|969882|969883|969884|969885|969886|971206|973107|976687|976703", + "text": "Kabuki syndrome 2" + }, + { + "baseId": "38900|38901|38902|38903|48574|339104|339107|348657|348662|352180|404851|902983|902984|902985|964595", + "text": "Deafness, X-linked 4" + }, + { + "baseId": "38905|38906|38907|38908|38909|167455|257862|339510|349006|349009|349010|352384|352385|352933|352934|352935|352936|534923|650131|858692|861439|903159|903160|903161|903162|903163|903164|903165|903166|903167|903168|939652|939653|951859", + "text": "Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia" + }, + { + "baseId": "38911", + "text": "Keratosis follicularis spinulosa decalvans, X-linked" + }, + { + "baseId": "38912|38913|38914|38915|38916|214810|263296|353912", + "text": "Megalocornea" + }, + { + "baseId": "38917|100523|100737|213850|213851|213864|404245|411320|584392|849945|917367|917575|920526|921514|969201|970103|970104|970105|970106|970107|970108|970109|970110|970111|970112|970113|970114|970115|970116|970117|970118|970119|970120|970121|970122|970123|972534|975759|977302|980134|980135|980137|983935|983936|983937|984015|984017", + "text": "Dystrophinopathies" + }, + { + "baseId": "38917|100520|100526|100534|100584|100683|100748|100761|101999|135741|171248|193535|198575|213848|265659|266626|266735|272508|272743|273101|275358|275412|313563|313602|339160|404291|404553|415778|433498|442428|446624|446630|470744|471494|492088|508553|510948|510954|534738|574529|574628|575403|589742|649978|649979|650006|650012|654968|656768|669966|670892|743300|773985|773998|786798|816418|816418|816419|816420|816432|849929|849949|849954|849975|850006|850016|980100", + "text": "Dystrophin deficiency" + }, + { + "baseId": "38924|38925|614507", + "text": "Atypical mycobacteriosis, familial, X-linked 2" + }, + { + "baseId": "38936|38937|102107|102108|135014|411494|439097|472216|534862|534976|535088|574029|574993|614142|650255|650256|650257|650258|650259|650260|653794|677000|677001|677002|706323|758664|758665|758666|758667|758668|821516|821517|850325|853047|920070|939693|940568|951900|951901|951902|959363|959364|959365|964635", + "text": "Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia" + }, + { + "baseId": "38943|136563|136564|136565|136566|136567|136568|208918|379031|379034|379035|379928|380442|384425|422422|426413|446520|470535|471783|471783|471787|472077|481445|507782|507783|534580|534581|534644|534646|534652|534656|535068|552245|573636|573640|575348|575349|575350|580675|612338|614499|649753|649754|649755|649756|649757|649758|649759|649760|653501|653777|717696|789085|792137|792138|802044|816499|821566|822217|849717|849718|849719|849720|849721|849722|849723|849724|929595|929596|929597|939464|939465|940543|951636|951637|951638|959183|961636|972803|977299", + "text": "Multiple congenital anomalies-hypotonia-seizures syndrome 2" + }, + { + "baseId": "38945|38946", + "text": "Autism, susceptibility to, X-linked 5" + }, + { + "baseId": "38957", + "text": "Dystonia, mitochondrial" + }, + { + "baseId": "38961", + "text": "Interstitial nephritis" + }, + { + "baseId": "38963|38964|38965|38966|38967|38968|38969|38970|38971|38972|38973|38974|38975|40347|79652|79656|79657|131873|131874|131875|131876|131877|131878|131879|131880|131881|131883|131884|131885|131886|207700|207701|207703|213590|213591|262269|307876|307885|307888|307897|307899|307904|307911|307915|307917|307955|307957|307958|307960|307961|307963|312169|312176|312178|312182|312187|312189|312191|312284|312286|312303|312307|317849|317853|317858|317859|317870|317871|317874|317875|317882|317895|317910|317925|317981|317984|317985|317989|317990|318354|318355|318361|318363|318371|318375|318376|318377|318382|318401|318513|318522|318525|318541|318544|318545|318550|318556|318557|353884|384434|428990|428991|428992|444460|513587|552140|579643|579683|611443|612284|682813|790884|790885|790886|818146|901678|901679|901680|901681|901682|901683|901684|901685|901686|901687|901688|901689|901690|901691|901692|901693|901694|901695|901696|901697|901698|901699|901700|901701|901702|901703|901704|901711|901745|901746|901747|901748|901749|901750|901751|901752|901753|901754|901755|901756|901757|901758|901759|903370|903371|903372|903373|903374|919221|964327|964328|964329|964330|969544|969787|969788|970907|970908|970909|970910|973027|976657|980934", + "text": "Nicolaides-Baraitser syndrome" + }, + { + "baseId": "38972|181453|263192|511891|805140|969777|969881|969887", + "text": "Hirsutism" + }, + { + "baseId": "38976", + "text": "Split-hand/foot malformation 1 with sensorineural hearing loss" + }, + { + "baseId": "38978|273103|273131|320738|329581|329582|329583|329584|329585|329586|336193|336203|336206|336207|338097|338103|338104|338106|769832|791415|871960|871961|871962|871963|871964|871965|871966|871967|871968|871969|871970", + "text": "Pituitary hormone deficiency, combined 6" + }, + { + "baseId": "38984|70509|134370|134371|134372|134374|134375|134376|134377|134378|134379|134380|134381|134382|134383|134384|134385|134386|134387|134388|134389|134390|134391|143271|143271|192741|192971|194356|194619|195162|195513|208055|208056|208057|208058|208059|208060|208060|208062|208063|208065|208067|208069|208070|208073|208076|208077|208079|208080|208083|208084|222357|241764|241766|241767|241768|241769|241770|241771|241772|241773|241774|241775|241776|241777|244859|244862|244866|244868|244872|244875|244876|244877|244881|244885|244888|244889|244890|244892|244895|244898|244901|244902|244904|244906|265503|266360|267185|269783|270759|271447|320125|320127|320129|320133|320136|320139|320141|320151|320152|320153|320169|320170|320171|320175|320177|320179|320180|320185|320188|320192|320194|328711|328719|328720|328722|328723|328724|328725|328727|328728|328729|328730|328733|328735|328743|328745|335329|335332|335333|335337|335339|335340|335347|335351|335352|335353|335354|335355|337184|337203|337208|337210|337211|337213|337220|337222|337241|337247|337249|360017|360026|360953|360956|360957|372877|372900|372921|372942|372947|372953|372954|373589|373596|373599|373600|373616|373660|373912|373913|373918|373963|373968|373972|373973|373990|375719|375745|375792|375800|375808|375812|375814|375821|375832|375840|375842|399489|399501|399506|399507|399521|399527|399533|399599|399606|399610|399613|399616|399628|399630|399631|399632|400056|400072|400221|400222|400227|400232|400237|400247|400255|404814|409062|415379|415380|421967|421968|429514|429518|429519|429523|429527|429529|429530|429536|429538|429541|429548|441640|445167|462975|462977|462985|462991|462995|463003|463013|463015|463017|463023|463032|463037|463393|463395|463396|463403|463420|463431|463434|463455|463468|463475|463480|463482|463484|463495|463509|463518|463519|463528|463732|463745|463755|463759|463764|463765|463767|463768|463774|463781|463784|463797|463798|463800|463805|463811|463967|463968|463971|463973|463975|463979|463990|463993|463993|463995|463999|464002|464008|464010|464013|504329|504329|504331|504331|504338|504355|504375|504376|504380|504608|504609|504611|504858|504884|504899|504900|504903|504913|505270|505297|505314|527840|527842|527844|527851|527854|527856|527857|527858|527860|527861|527862|527871|527872|527875|527877|527879|527882|527883|527888|527890|527892|527895|527897|527899|527901|527905|527906|527908|527911|527918|527919|527921|527922|527924|527926|527930|528176|528178|528180|528181|528184|528191|528192|528197|528199|528200|528206|528208|528209|528211|528215|528223|528224|528235|528238|528241|528249|528251|528251|528252|528267|528267|528346|528347|528349|528356|528365|528369|528378|528383|528391|528394|528399|528404|528406|528409|536869|566192|566195|566197|566201|566209|566210|566212|566215|566217|566222|566225|566227|566229|567778|567782|567783|567785|567786|567790|567795|567795|567796|567803|567806|568642|568646|568652|568656|568662|568663|568665|568675|568678|568684|568693|572624|572626|572627|572631|572632|572635|572636|572638|572646|572650|572658|577341|577343|577345|577347|579818|579829|579833|579843|579852|579860|579867|579872|580120|609881|613519|614387|614387|614388|614389|614390|614391|614392|642067|642068|642069|642070|642071|642072|642073|642074|642075|642076|642077|642078|642079|642080|642081|642082|642083|642084|642085|642086|642087|642088|642089|642090|642091|642092|642093|642094|642095|642096|642097|642098|642099|642100|642101|642102|642103|642104|642105|642106|642107|642108|642109|642110|642111|652328|652436|652440|652443|652447|652571|652574|652577|652579|653886|656218|656219|656223|667162|683051|683052|683062|684421|684422|684424|684425|684426|684427|684428|684429|684431|684432|685390|688186|688187|688188|688189|688191|688192|688194|688195|688198|688202|688203|688204|688205|690069|693404|693405|693408|693416|693417|702757|702761|702762|702763|702766|714002|714003|725560|725561|725564|739119|739121|769647|769648|769649|769653|769658|769660|769666|769670|776244|778043|791378|791379|791380|791381|791382|791383|820593|822093|822094|841015|841016|841017|841018|841019|841020|841021|841022|841023|841024|841025|841026|841027|841028|841029|841030|841031|841032|841033|841034|841035|841036|841037|841038|841039|841040|841041|841042|841043|841044|841045|841046|841047|841048|841049|841050|841051|841052|841053|841054|841055|841056|841057|841058|841059|841060|841061|841062|841063|841064|841065|841066|841067|841068|851543|851983|852548|852550|852551|852552|871609|871610|871611|871612|871613|871614|871615|871616|871617|871618|871619|871620|871621|871622|871623|871624|871625|871626|871627|871628|871629|871630|871631|871632|871633|871634|871635|871636|871637|871638|871639|871640|871641|871642|871643|871644|872350|872351|872352|906346|919505|919506|919507|919508|920328|920329|926954|926955|926956|926957|926958|926959|926960|926961|926962|926963|926964|936492|936493|936494|936495|936496|936497|936498|936499|936500|936501|936502|936503|936504|936505|936506|936507|936508|936509|936510|936511|936512|936513|936514|936515|936516|940294|940295|940296|948424|948425|948426|948427|948428|948429|948430|948431|948432|948433|948434|948435|948436|948437|957143|957144|957145|957146|957147|960075|960076|961823|962985|962986|970987|970988|976531", + "text": "Charcot-Marie-Tooth disease, axonal, type 2O" + }, + { + "baseId": "38984|38987|38988|38989|143271|143271|178391|208060|208069|360017|360026|404814|463993|504329|504331|528251|528267|536869|552169|567795|614387|614388|614389|614390|614391|614392|625287|861578|906346|976531", + "text": "Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant" + }, + { + "baseId": "38985|38986|70507|70508|70509|143271|178391|205703|205704|208060|208062|208069|208078|213627|225860|360026|404814|409059|429525|429533|432219|463993|481362|488159|504329|504331|528251|528267|536869|552168|552170|567795|614387|614388|614389|614390|614391|614392|642069|642109|788878|789143|861578|906346|963773|964405|964406|964407|964408|964409|964410|964411|965741|965990|965991|965992|970985|970986|976531", + "text": "Mental retardation, autosomal dominant 13" + }, + { + "baseId": "38990|38991|38992|38993|38994|38995|38996|48575|106816|106817|297832|297834|297841|297844|297848|297849|297851|297852|297858|297859|297864|297873|297884|297895|297896|297901|300009|300010|300014|300017|300032|300034|300041|300058|300069|300073|300081|300082|300083|300085|304246|304256|304258|304268|304270|304280|304283|304285|304287|304290|304292|304293|304302|304310|304322|304563|304568|304574|304575|304576|304578|304579|304582|304604|304616|304619|304630|304636|304638|304639|304642|304645|304648|304650|304651|304654|304657|304665|304666|304667|304670|304673|304676|304688|428440|550850|578437|735144|894526|894527|894528|894529|894530|894531|894532|894533|894534|894535|894536|894537|894538|894539|894540|894541|894542|894543|894544|894545|894546|894547|894548|894549|894550|894551|894552|894553|894554|894555|894556|894557|894558|894559|894560|894561|894562|894563|894564|894565|894566|894567|894568|894569|894570|894571|894572|894573|894574|894575|894576|896118|896119|896120|896121|918974|970811|977215|977216", + "text": "Acrodysostosis 2, with or without hormone resistance" + }, + { + "baseId": "38997|100923|100926|100934|100935|100936|100937|100939|100940|100942|100944|100949|100952|100954|100956|100957|100958|100959|100962|100963|100964|100965|100966|100967|100970|137671|137672|169206|169216|169217|169241|169249|169257|177650|177653|191800|192013|192117|192379|192980|193132|193186|193789|265764|272980|465740|490287|530101|530304|567503|570296|576341|580079|580124|622484|644676|644677|644678|644679|644680|644681|644682|644683|644684|644685|652563|652630|652851|682919|693866|695695|695696|726633|770904|776345|778419|820828|820829|820831|820832|820833|820834|820835|822118|843862|843863|843864|843865|843866|843867|843868|843869|843870|843871|852820|918471|927815|927816|927817|927818|937453|937454|941136|949400|949401|949402|957762|957763|957764|957765|961547", + "text": "Rubinstein-Taybi syndrome" + }, + { + "baseId": "39005|39006|39007|426184|433824|433825|433826|433829|433830|433831|433832|438794|466042|466043|466044|466046|466779|466781|466782|466797|466806|466807|466807|466809|466811|466813|466814|466815|467072|467074|467077|467079|467086|467093|467096|467098|530317|530318|530320|530325|530328|530331|530334|530337|530338|530403|530407|530412|530420|530427|530583|530586|530588|530591|530593|530600|530797|530801|530804|530808|530811|530814|530821|530825|530830|530836|530838|530841|530843|567548|568406|568407|568411|568412|568416|568420|568423|570515|570519|570523|570524|570526|570530|570531|570533|570574|570576|570577|570578|570578|574181|574182|574183|574184|574185|574186|574187|610028|610028|610030|610031|610033|613046|614430|614430|624613|645030|645031|645032|645033|645034|645035|645036|645037|645038|645039|645040|645041|645042|645043|645044|645045|645046|645047|645048|645049|645050|645051|645052|645053|645054|645055|645056|645057|645058|645059|645060|645061|652759|652761|652765|652769|703844|703845|715100|715101|715102|715103|726809|726810|726811|726812|726813|726814|726815|726816|726817|726818|731098|740374|740375|740377|740379|740381|755409|755412|755417|755418|755419|755420|755422|755426|760529|760531|771089|771093|771096|771103|776379|776383|779850|785393|785394|785396|785398|816340|822121|844388|844389|844390|844391|844392|844393|844394|844395|844396|844397|844398|844399|844400|844401|844402|844403|844404|844405|844406|844407|844408|844409|844410|844411|844412|852833|927968|927969|927970|927971|927972|927973|927974|927975|927976|937633|937634|937635|937636|937637|937638|937639|937640|937641|937642|941148|949602|949603|949604|949605|949606|949607|949608|949609|949610|949611|949612|957895|957896|957897|957898|957899|957900|957901|960180|960181", + "text": "Familial cold autoinflammatory syndrome 3" + }, + { + "baseId": "39010|39011|39012|39013|39014|39015|39016|138702|138703|138704|138706|138707|138710|138711|138713|138714|138716|138717|138722|138724|138726|193068|193148|193953|194086|224678|249378|249379|249380|249381|268080|270663|270783|270855|270887|273621|274044|275095|275203|275435|447065|447071|447161|447170|447179|447244|447249|488855|489054|491424|494205|509039|509040|513232|515029|515031|515128|515139|536068|556572|556609|556899|584340|585705|608918|612470|612495|626736|626737|626739|650571|731635|789832|789833|789836|789837|789838|822624|822625|921612|921613|921614|921615|921617|930005|941412|941413|941414|952040|962054|964126", + "text": "Hajdu-Cheney syndrome" + }, + { + "baseId": "39018|133411|133417|133422|141632|180244|180245|240014|240015|240018|244492|244497|407093|407096|575755|575756|575760", + "text": "Fanconi anemia, complementation group U" + }, + { + "baseId": "39018|132703|205033|205034|205035|205036|205037|205038|205039|205040|654386|678062|678063", + "text": "Short stature, microcephaly, and endocrine dysfunction" + }, + { + "baseId": "39019|39020|39021|39022|39023|429069", + "text": "46,XY sex reversal 8" + }, + { + "baseId": "39024|39025|39026|237408|299836|299838|299839|299841|299845|299847|299850|299852|299854|299855|299862|299870|302423|302444|302461|302463|302468|302475|302478|302482|302483|302485|302490|306854|306855|306864|306865|306866|306875|306881|306887|306888|306889|306893|306904|307139|307145|307147|307149|307151|307155|307157|307160|307169|307170|307177|307178|307180|364046|552104|620226|620227|677032|699530|788797|816461|857618|857619|895794|895795|895796|895797|895798|895799|895800|895801|895802|895803|895804|895805|895806|895807|895808|895809|895810|895811|895812|895813|895814|895815|895816|896220|896221|896222|896223|896224|917794|917795", + "text": "Trichohepatoenteric syndrome 2" + }, + { + "baseId": "39027|39028|508785|508786|508787", + "text": "Parkinson disease 18" + }, + { + "baseId": "39029|39030|39031|39032|39033|227258|268102|269243|269771|270877|270999|274304|452231|452234|452359|491384|518796|519048|519204|558866|586117|614259|631111|651110|686381|686382|691350|691351|691353|691357|695191|697980|697981|720347|798525|799319|816309|819292|827774|827775|827776|827777|918819|918820|920191|969769|980449", + "text": "3MC syndrome 1" + }, + { + "baseId": "39038|39038|39039|39039|39040|39040|39041|39042|39043|39044|39045|39046|39047|39048|39049|153735|153736|153737|153737|170197|170197|204402|204403|246906|283703|283706|283707|283708|284378|284382|286359|286368|286372|286373|286374|286714|286717|286719|286729|286732|286734|405526|414861|450165|450340|450469|517473|517475|517560|517561|517596|517597|517751|517762|557800|557802|559021|559510|559512|629241|629242|629243|629244|629245|629246|629246|629247|629248|629248|629249|629250|629251|650934|650935|743858|743869|762743|778989|781101|792652|815887|819094|825519|825520|825521|825522|825523|825524|825525|825526|825527|825528|825529|825530|825531|825532|825533|825534|850870|922499|922500|922501|931065|942534|942535|942536|952869|952870|952871|952872|952873|959617|960460|964448", + "text": "Immunodeficiency 31C" + }, + { + "baseId": "39039", + "text": "Chronic mucocutaneous candidiasis" + }, + { + "baseId": "39050|99491|99496|99503|177214|192291|201649|201653|201655|201657|201675|201678|201686|201691|201720|201721|405989|495430|518499|550773|614247", + "text": "Schizophrenia 17" + }, + { + "baseId": "39054|39056|39057|39058|39058|39061|39062|53503|457788", + "text": "Ventricular septal defect 1" + }, + { + "baseId": "39065|39066", + "text": "Nephrotic syndrome, type 6" + }, + { + "baseId": "39070|39071|39072|395449", + "text": "Ventricular septal defect 3" + }, + { + "baseId": "39075", + "text": "Familial periodic paralysis" + }, + { + "baseId": "39079|75271|135691|135695|135696|135699|139369|139369|142775|165903|165904|165905|171736|190110|190111|192849|202713|202741|202742|202756|202761|205018|205018|214541|225856|247710|247711|247712|247713|247714|247715|247716|247717|247718|247719|247720|247721|247722|247723|247724|247725|247726|247727|247728|247729|247730|247731|247732|274242|361206|361207|375261|408704|408707|424662|429437|429438|442469|481456|486752|512030|513321|538432|571890|614378|622135|641224|677439|677440|682181|791254|791255|791256|791257|802002|802003|802055|816524|857654|858349|858350|858351|858352|858353|919451|919452|919453|961526|963766|964390|964391|964392|964393|964394|970968|970969|977256", + "text": "Early infantile epileptic encephalopathy 13" + }, + { + "baseId": "39081|97393", + "text": "Aldosterone-producing adrenal adenoma, somatic" + }, + { + "baseId": "39082|199803|230626|496794", + "text": "Diffuse interstitial pulmonary fibrosis" + }, + { + "baseId": "39087|48221|48222|92733|171866|171868|171873|171874|200400|200401|200402|200403|200404|200405|200406|200407|200408|200409|205794|205795|208716|208717|208718|208721|208722|215106|225882|271849|353886|360481|362432|362451|377240|377244|377246|377248|377261|377262|378397|378412|378421|378435|379772|379777|379779|379780|410857|410861|410863|422355|422362|430426|430427|430428|430430|430970|431925|446321|446324|446325|469618|469619|469620|469621|469624|470570|470660|470664|470665|470667|471076|471195|471199|471643|471646|497342|507355|507358|508310|533860|533872|533876|533877|533882|533884|533886|533888|533890|533896|533908|533916|533920|533930|550373|571556|573129|573716|573793|575165|577893|580584|580703|586014|589813|611436|611918|614482|615979|648990|648991|648992|648993|648994|648995|648996|648997|648998|648999|649000|653898|654150|656660|680058|705690|728910|757799|773337|773338|773340|773343|773344|786491|786493|798768|821353|821373|822176|822177|822178|822179|822180|822181|822182|822183|822184|822185|822186|822282|822283|822284|848794|848795|848796|848797|848798|848799|848800|848801|848802|848803|848804|904257|919935|919936|929321|929322|929323|929324|939113|939114|939115|939116|951236|951237|951238|951239|951240|958963|958964|963924|964546|964547|964548|964736|966014|966044|966045|971155|972801", + "text": "Mental retardation, autosomal dominant 7" + }, + { + "baseId": "39089|39090|190914|190915|191731|192064|192065|193303|195766|195767|213544|221361|221362|227192|227843|228983|228984|228985|228986|228987|228988|228989|228990|228991|228992|228993|228995|228996|228997|228998|228999|229000|229001|229002|229003|229004|229005|229006|229007|239077|239078|239079|239080|239081|239082|239083|239084|239085|239086|239087|239088|239089|239090|239091|239092|239093|246930|246931|246933|250865|250866|250867|250868|250870|250872|250873|250874|250875|250876|250878|250879|250881|250885|250886|250888|258246|258247|258248|258250|258253|258254|258255|258256|258257|258258|258259|258260|258261|258262|258264|258265|258266|258268|258270|258273|258274|258276|258277|258281|258283|258284|263818|263819|268990|288324|288331|288338|288346|288349|288350|288355|288360|288361|288366|288368|288370|288371|288372|288380|288388|288390|288396|288397|288402|288416|288419|288425|289110|289115|289122|289125|289126|289127|289132|289144|289145|289155|289156|289163|289164|289165|289172|289175|292057|292070|292072|292077|292078|292084|292105|292113|292114|292130|292143|292144|292159|292163|292169|292179|292195|292196|292199|292241|292243|292251|292261|292277|292278|292288|292292|292294|292298|359474|361858|362736|366893|366894|366895|367151|367154|367156|367157|367158|367160|367163|368173|389561|393233|393240|393248|393249|393255|393260|393262|393264|393266|393267|393271|393276|393279|393285|393312|393320|393321|393325|393327|393332|393335|393341|393342|393353|393354|393359|393441|393454|393461|393463|393466|393467|393469|393477|393479|393481|393483|393489|393491|393661|393662|393664|393668|393669|393673|393678|393682|393684|393691|393693|393695|393702|393709|406107|413642|417440|433732|433734|443356|451756|451757|451759|451763|451770|451772|451774|451777|451778|451779|451780|451787|451794|451801|451806|451815|451819|451821|452008|452012|452013|452015|452016|452023|452026|452028|452083|452085|452104|452107|452109|452113|452114|452128|452130|452131|452225|452230|452237|452239|452242|452246|452248|452251|452253|480517|481425|486334|495133|500000|500261|500426|500428|500430|500452|509500|509501|509506|509511|509512|509516|509520|509522|509523|509526|509528|509533|509534|509535|509536|509538|509543|509547|518787|518791|518793|518795|518798|518807|518808|518810|518819|518827|518833|518837|518842|518847|518849|518850|518853|518863|518868|518872|518875|518879|518880|518882|519023|519033|519034|519037|519039|519040|519042|519043|519045|519046|519047|519051|519052|519056|519058|519060|519070|519075|537739|537741|537746|537748|552424|552428|558774|558776|558778|558780|558782|558784|558786|558788|558790|558792|558794|559219|559313|559315|559317|559319|559321|559323|559325|559327|559329|561140|561144|561150|561155|561166|561168|561174|561175|561178|562358|562359|562360|562364|562368|609295|609493|609496|612631|612635|614256|614257|614887|614890|630844|630845|630846|630847|630848|630849|630850|630851|630852|630853|630854|630855|630856|630857|630858|630859|630860|630861|630862|630863|630864|630865|630866|630867|630868|630869|630870|630871|630872|630873|630874|651015|651020|651025|655502|679743|682238|683532|683533|683534|683536|683537|686304|686307|686308|686311|686314|686315|686317|691282|691284|697786|759172|759184|763576|763578|779019|787148|799310|799311|819316|827415|827416|827417|827418|827419|827420|827421|827422|827423|827424|827425|827426|827427|827428|827429|827430|827431|827432|827433|827434|827435|827436|827437|827438|827439|827440|827441|827442|827443|827444|827445|827446|827447|850906|887735|887736|887737|887738|887739|887740|887741|887742|887743|887744|887745|887746|887747|887748|887749|887750|887751|887752|887753|887754|887755|887756|887757|887758|887760|887761|887762|887763|887764|887765|887766|918795|923018|923019|923020|923021|923022|923023|923024|923025|931724|931725|931726|931727|931728|931729|931730|931731|931732|931733|931734|931735|943289|943290|943291|943292|943293|943294|943295|943296|953315|953316|953317|953318|953319|953320|953321|959677|959678|967145|967176|967177", + "text": "Aortic aneurysm, familial thoracic 7" + }, + { + "baseId": "39092|39093|39094|39095|39096|513301|969283|969284", + "text": "Craniosynostosis and dental anomalies" + }, + { + "baseId": "39097|192301|192302|192304|192304|193485|194352|260581|271395|275012|315166|315168|315170|315171|315175|315181|315182|315189|315190|315195|315196|315200|315203|321989|322012|322013|322017|322020|322026|328077|328092|328113|328117|328123|328124|328131|328132|329346|329356|329359|329368|329370|329372|329391|433909|536181|590441|590442|620420|724739|738291|868783|868784|868785|868786|868787|868788|868789|868790|868791|868792|868793|868794|868795|868796|868797", + "text": "Osteogenesis imperfecta type 10" + }, + { + "baseId": "39100|39101|39102|39103|213561|246988|263526|424269|424270|428439|455034|455051|455218|455223|455227|455231|455680|455682|455689|508801|508802|508803|508804|508805|508806|521517|521577|521581|521844|563184|563196|633987|633988|633989|633990|633991|691871|691872|691873|691874|699120|699121|699122|699123|699124|699128|709954|777608|821921|821922|830904|918973|944639|970810", + "text": "46,XY sex reversal, type 6" + }, + { + "baseId": "39110|48337|48338|247502", + "text": "High density lipoprotein cholesterol level quantitative trait locus 6" + }, + { + "baseId": "39115|39548|39551|79366|253214|253218|270642|306119|310158|310160|310176|458107|692527|692528|700686|835158|835159|835160|835161|835162|835163|835164|835165|835166|900611|934450|934451|946230|946231|946232|946233|946234|946235|955528|955529|955530", + "text": "Microphthalmia, isolated, with coloboma 6" + }, + { + "baseId": "39116|39117|39118|39119|39120|512886", + "text": "Fleck retina, familial benign" + }, + { + "baseId": "39121|167827|413648", + "text": "Cutaneous telangiectasia and cancer syndrome, familial" + }, + { + "baseId": 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0|963211|963212|963214|963216|963217|963219|963220|963221|963222|965947|967262", + "text": "Spastic paraplegia 30, autosomal recessive" + }, + { + "baseId": 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+ "text": "Intellectual disability, autosomal dominant 9" + }, + { + "baseId": "39125|204420|204421|417248|806368", + "text": "PEHO syndrome" + }, + { + "baseId": 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+ "text": "Hereditary sensory and autonomic neuropathy type IIC" + }, + { + "baseId": 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+ "text": "Limb-girdle muscular dystrophy, type 2Q" + }, + { + "baseId": "39132|858656|858657|919422|966063", + "text": "Diarrhea 6" + }, + { + "baseId": "39134|39135|39136|39137|39138|39139|39140|48041|48042|214738|214739|590544|612173|679819|965954|965955", + "text": "Osteodysplastic primordial dwarfism, type 1" + }, + { + "baseId": "39134|214736|214737|214738|214739|214740|214741|624198|800990|858738", + "text": "Roifman syndrome" + }, + { + "baseId": "39134|39137|624198|679818|679819|920651|965912|965913", + "text": "Lowry-Wood syndrome" + }, + { + "baseId": "39141|175845|189894|482272|536836", + "text": "Atrial fibrillation, familial, 12" + }, + { + "baseId": "39142|39143|39144|45807|45809|45810|45811|227249|227250|227251|432290|697847|818222|818223|918799|966064|966065|966066|966067", + "text": "Primary hypertrophic osteoarthropathy, autosomal recessive 2" + }, + { + "baseId": "39147|39148|798687|962739|962834|971023", + "text": "Focal segmental glomerulosclerosis 6" + }, + { + "baseId": "39149|39150|257662|257666|271893|273139|338070|338078|347715|347716|351557|352519|352521|352522|413615|415113|470272|492261|534287|534315|534318|534445|534783|534784|534793|534796|571989|571990|573407|573408|574130|574132|575207|575268|649472|649473|649474|649475|649476|649477|649478|649479|649480|649481|649482|649483|649484|649485|649486|717431|729168|742882|742883|758079|758080|758081|773542|776817|792059|792060|849322|849323|849324|849325|849326|849327|849328|849329|849330|849331|849332|849333|849334|849335|852443|852938|920610|920611|929485|929486|929487|929488|939313|951470|951471|951472|959093|959094", + "text": "Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III" + }, + { + "baseId": "39152|325360|325362|325366|325368|335042|335043|335061|341495|341497|341503|341506|341511|342987|342989|342990|343010|343011|466454|466476|466705|480750|480751|480752|480753|480754|480755|480756|480757|480758|480759|480760|480761|530114|570197|570298|644687|693878|693881|843873|843874|875290|875291|875292|875293|875294|875295|875296|875297|875298|875299|875300|875301|875302|875303|875304|875305|876670|876671|927819|949404|960159", + "text": "Parkinson disease 17" + }, + { + "baseId": "39154|39155|39156|76582|76583|137961|137965|139277|168166|168191|168571|168573|168574|168575|168576|168577|168578|168579|195012|195333|204364|204426|207471|207472|239991|297027|297047|297083|298909|298925|298999|302177|303194|303203|303206|303222|303407|303412|303413|303415|303426|305359|305365|310161|310164|310165|310167|310287|310297|353807|370962|395470|395474|395480|395665|395847|396125|407046|424390|444096|444097|456781|456784|456786|457503|457508|522435|522437|522761|561400|561402|561681|566555|581883|624153|635876|635877|635878|635879|635880|635881|635882|651706|651779|683854|683855|683856|685209|686986|686987|686988|686992|686993|686994|686995|689859|692176|692177|692178|819849|821940|833308|833309|833310|924746|924747|924748|924749|933760|933761|945514|955088|955089|959842|964285|964286|977225", + "text": "Weaver syndrome" + }, + { + "baseId": "39157|39159|94452|208780|360483|431926|550644|552228", + "text": "Mental retardation, autosomal dominant 15" + }, + { + "baseId": "39164|39165|39166|134580|134581|208435|243031|243032|243033|243034|243035|402636|402639|402691|402695|402698|402702|403170|403171|403233|467893|467900|468783|468785|468786|469228|469232|469235|469588|532147|532147|532149|532159|532159|532160|532163|532165|532245|532246|532249|532519|532520|532525|532535|536962|571840|572542|572545|574709|574710|574711|647082|647083|647084|647085|647086|647087|647088|647089|647090|647091|647092|647093|684742|684743|684745|684747|685441|688882|688885|688886|688887|688890|694251|741307|821180|846679|846680|846681|846682|846683|846684|846685|846686|846687|846688|846689|846690|846691|928659|938380|938381|938382|938383|950455|950456|950457|950458|958435|958436|958437", + "text": "Atrioventricular septal defect 5" + }, + { + "baseId": "39166|532147|532159", + "text": "Atrial septal defect 9" + }, + { + "baseId": "39167|39168|39169|39170|39171|39172|48443|165814|165815|208434|532147|532159", + "text": "Pancreatic agenesis and congenital heart disease" + }, + { + "baseId": "39169|50063|53432|165814|165815|195509|215772|215773|215774|263329|334576|354191|354192|354193|354194|354195|354196|805118|805119|980498|980499", + "text": "Congenital diaphragmatic hernia" + }, + { + "baseId": "39186|39187|39188|39189|39190|39191|39192|135300|135302|135303|135305|135306|135309|135310|206827|206828|206832|249981|280777|280784|280785|280786|281284|281288|281302|281305|281311|282556|282564|282574|282575|282576|282836|282840|427846|427848|438966|620005|626110|690638|690639|732501|732502|864566|864567|864568|864569|864570|864571|864572|864573|864574|864575|864576|864577|864578|864579|864580|864581|865191|865192|865193", + "text": "Meier-Gorlin syndrome 1" + }, + { + "baseId": "39188|39455|200397|200398|200399|255744|255745|282855|325397|325398|325421|325423|328352|335066|335068|335070|338247|341513|341519|343011|343036|343038|345786|345796", + "text": "Meier-Gorlin syndrome" + }, + { + "baseId": "39194|204389|205762|205762|424598|424599|441330|459438|459443|459444|459535|459999|460001|524527|524830|524937|524939|525087|525090|563212|563214|563216|563927|563941|565878|565882|565883|569005|569006|638210|638211|638212|638213|638214|638215|692663|700985|836071|836072|836073|836074|836075|861360|861361|925566|925567|934741|934742|934743|934744|934745|946597|946598", + "text": "Amyotrophic lateral sclerosis 16, juvenile" + }, + { + "baseId": "39195|39196|39197|39198", + "text": "Leukonychia totalis" + }, + { + "baseId": "39201|39202|101161|176926|278587|278600|278702|279897|279915|279928|280001|364608|364610|498201|498279|513502|515415|556500|556770|576081|576082|627318|780459|823274|921815|939793", + "text": "Congenital disorder of glycosylation type Ir" + }, + { + "baseId": "39203|39204|39205|39206|106634|135505|310211|310212|310213|310222|310224|310226|310231|310232|310233|310239|310240|310244|310246|310247|310249|310252|310254|310255|310263|310268|315308|315311|315326|315329|315339|315340|315341|315347|315351|315353|315354|315370|315371|315389|321307|321318|321320|321331|321345|321347|321348|321349|321351|321353|321356|321359|321360|321367|321976|321977|321985|321986|321992|321997|322007|322008|322009|322014|322015|322023|322024|322025|322028|322045|322053|322062|865825|865826|865827|865828|865829|865830|865831|865832|865833|865834|865835|865836|865837|865838|865839|865840|865841|865842|865843|865844|865845|865846|865847|865848|865849|865850|865851|865852|865853|865854|865855|865856|865857|865858|865859|865860|865861|865862", + "text": "Warburg micro syndrome 3" + }, + { + "baseId": "39212", + "text": "Systemic lupus erythematosus 16" + }, + { + "baseId": "39217|49801|49802|49803|252067|257118|257121|257122|257125|257126|269520|271078|273929|301328|301329|301331|305700|305708|305860|343596|343598|343599|348872|348886|348887|348888|348892|348894|348895|349840|349841|349842|353742|377467|446129|489138|490564|493096|506734|584444|625969|716437|728175|757014|772687|800135|882012|882013|882014|882015|882016|882017|882018|882019|882020|882021|882022|882023|882024|882025|882026|882027|882028|882029|882030|882031|882032|882033|882034|882035|882036|882037|882886|882887|882888", + "text": "Non-syndromic syndactyly" + }, + { + "baseId": "39217|78958|78961|152875|177134|177265|177836|177837|191437|193722|193723|194518|195432|195757|254019|254020|272280|312754|312755|312766|312770|312778|312779|312783|312784|312788|312789|312795|312796|312801|312802|312808|318744|318758|318775|318784|318788|318798|318815|318817|318818|318820|318822|318823|324842|324846|324848|324853|324854|324870|324871|324872|324877|324894|324897|324912|324913|324914|324926|324932|325705|325706|325708|325719|325734|325737|325745|325753|325754|325763|325768|325769|325770|325774|325780|325782|360814|625969|858508|858509", + "text": "Retinal degeneration" + }, + { + "baseId": "39222|246905|389450|389462|448986|449163|449256|449283|449286|516692|516730|516732|516736|516838|516847|516851|559396|559398|629012|629013|629014|629015|650788|707859|732950|732951|732954|732955|746956|746958|762429|762430|780964|780965|780969|825238|825239|825240|825241|825242|825243|825244|825245|825246|922415|922416|922417|942415|942416|942417|942418|942419|942420|952789|952790|952791|952792|952793|952794|961928|964756", + "text": "Wiskott-Aldrich syndrome 2" + }, + { + "baseId": "39223", + "text": "Infections, recurrent, associated with encephalopathy, hepatic dysfunction, and cardiovascular malformations" + }, + { + "baseId": "39225|167425|167426|167427|167432|332001|790610|790611|791448", + "text": "Peeling skin syndrome 1" + }, + { + "baseId": "39226", + "text": "Abnormal glycosylation (CDG IIa)" + }, + { + "baseId": "39227|134084|134085|134087|134088|208392|208394|328337|328340|328345|328348|338249|338257|338258|344355|344358|345780|345784|345791|345792|345798|429965|620587|877396|877397|877398|877399|877400|877401|877402|877403|880511|880512|880513", + "text": "Meier-Gorlin syndrome 5" + }, + { + "baseId": "39233|39941", + "text": "Usher syndrome type 2c, GPR98/PDZD digenic" + }, + { + "baseId": "39236", + "text": "Retinal arterial macroaneurysm with supravascular pulmonic stenosis" + }, + { + "baseId": "39237|552223|919912", + "text": "Mental retardation, autosomal dominant 11" + }, + { + "baseId": "39238|920098", + "text": "Mental retardation, autosomal dominant 10" + }, + { + "baseId": "39239|39240|39241|39242|39244|133339|133340|133341|133342|133343|133345|133346|133347|133348|133349|133350|133351|133352|133353|133354|133355|142574|142575|142576|142577|142578|142579|142580|142581|142582|142583|150857|151014|151057|151166|151167|151233|151292|151323|151326|151421|151557|151659|151683|151816|151839|151873|152468|152525|152669|180791|180792|180793|180795|180796|180797|180798|180799|180800|180801|180802|180803|180804|180805|180806|180807|180809|181162|184798|184799|184800|184801|184803|184804|184805|184806|184807|184808|184809|184810|184811|184812|184813|184814|184815|184816|184817|184818|184819|184821|184823|184824|184825|184826|184827|184828|184829|184830|184831|184832|184833|184834|184835|184836|184837|184838|184839|184840|184841|184842|184843|184844|184845|184847|184848|184850|184851|184853|184854|184855|184857|184858|184859|184860|190808|235856|235858|235859|235860|235861|235862|235863|235864|235865|235866|235867|235869|235871|235872|235876|235877|235878|235880|235881|235883|235884|235885|235889|235890|235891|235892|235894|235895|235896|235898|235900|235901|235902|235904|235905|235906|235907|235908|235909|235910|235911|235912|235913|235915|235916|235921|242579|242720|242721|242722|242724|242725|242726|242728|242729|242730|242731|242732|245014|344110|358919|358920|358921|358922|358923|358924|374918|374928|374931|375864|375978|375987|375997|378131|401488|401851|401855|401857|401865|401872|401873|401875|401882|401884|401892|401926|401929|401932|401935|401937|402394|402396|402397|402400|402403|402410|402418|402422|402559|402560|402564|402570|402572|402578|402582|402588|402590|402595|402596|402605|402606|402609|409890|409891|409893|409896|409899|409900|409902|409906|409907|409908|409909|409910|409911|409913|413462|445755|466218|466221|466732|466735|466738|466739|466741|466748|466754|466755|466759|466765|467342|467586|467592|467593|467607|467611|467612|467618|467619|467620|467621|467624|467636|467638|467642|467644|467647|467797|467801|467805|467808|467809|467922|467929|467931|467936|467942|467944|467950|467952|467955|467963|467975|467977|467978|467984|467986|467989|467991|478420|478425|478431|478436|478439|478441|478443|478450|478453|478461|478463|478468|478475|478481|478482|478483|478488|478491|478492|478495|478513|478590|478591|478592|478594|478596|478600|478624|478627|479134|479153|479165|479169|479171|479191|479194|479205|479207|479213|479216|482978|482980|482981|482996|484764|484781|484789|484959|484977|484983|484995|485007|485016|485224|506270|506279|506776|530956|530958|530964|530965|530972|531087|531089|531090|531091|531094|531100|531150|531151|531152|531161|531166|531168|531171|531446|531448|531450|531453|531457|531460|539350|539351|539352|539353|539354|539355|539356|568582|568996|568998|569003|569008|569017|570674|570680|571079|571082|571083|571090|571091|571265|571267|571271|571272|571280|571287|571288|571289|571298|571299|571308|574255|574256|574437|574439|574441|575608|575986|575991|575993|618524|618535|618540|618542|618545|645793|645794|645795|645796|645797|645798|645799|645800|645801|645802|645803|645804|645805|645806|645807|645808|645809|645810|645811|645812|645813|645814|645815|645816|645817|645818|645819|645820|645821|645822|645823|652640|652806|653354|653433|653444|755776|755777|760405|771430|771432|778376|785538|789609|791734|791735|791736|791737|791738|791739|791740|791741|813540|813554|813566|813570|813571|813577|813584|815681|821035|821036|821037|821038|821039|845206|845207|845208|845209|845210|845211|845212|845213|845214|845215|845216|845217|845218|845219|845220|845221|845222|845223|845224|845225|845226|845227|845228|845229|845230|845231|845232|845233|845234|851713|851715|852195|852196|913820|913833|916485|928221|928222|928223|928224|928225|928226|928227|928228|928229|928230|928231|928232|928233|928234|928235|937885|937886|937887|937888|937889|937890|937891|937892|937893|940408|941179|949873|949874|949875|949876|949877|949878|949879|949880|949881|949882|949883|949884|949885|949886|949887|949888|958084|958085|958086|960213|960214", + "text": "Breast-ovarian cancer, familial 4" + }, + { + "baseId": "39248|39249|39250|206790|206793|227656|227657|227658|237025|257105|313744|427777|427778|427787|427794|442805|508769|513899|550581|552043|552044|612472|622861|677404|789958|789959|789960|800921|805073|906201|906379|918629|961500|964153|964154|964646|964993|970685|973016|974477|976642|977173|977174|980904", + "text": "Mental retardation, autosomal dominant 14" + }, + { + "baseId": "39250|40165|40166|40167|40168|40169|40170|40171|40172|40173|40174|207343|207352|207363|207365|207373|207375|207380|207381|207382|207384|207385|207388|225865|225886|262265|264206|264289|275248|360874|361185|361264|415033|424483|424649|428558|428560|428563|428569|428570|428571|428577|431909|431910|431911|431912|431913|432263|443919|443928|444460|481337|481338|481755|495270|511635|511636|514851|552097|552098|552099|552100|552101|552102|552103|552396|575513|576349|579236|583100|611392|611465|612443|613853|614090|620936|622884|623652|623653|624152|625798|653872|653873|654127|677422|677423|678939|682803|682804|788794|788795|790602|790603|790604|790605|798571|816018|816458|906344|919006|919007|919008|919009|919010|919011|919012|919013|919014|920224|920225|961223|962916|963195|964267|964268|964269|964717|964825|969749|969779|970011|970826|970827|970828|972718|976652|980584|980921", + "text": "Coffin-Siris syndrome 1" + }, + { + "baseId": "39251|39252|39253|168038|168039|206853|227220", + "text": "Meier-Gorlin syndrome 2" + }, + { + "baseId": 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+ "text": "Tumor susceptibility linked to germline BAP1 mutations" + }, + { + "baseId": "39262|39263|39264|39265|39266|39267|39268|39269|39270|39271|142915|142916|142917|142918|142919|142920|178706|210262|210266|258935|258940|258946|258947|263525|323138|323151|323155|323166|323169|323180|323196|323200|332772|332774|332776|332781|332783|332785|332802|332835|332843|332846|332854|332858|332862|339727|339728|339738|339754|339760|339761|339769|339773|339777|341127|341137|341150|341159|341161|341164|341172|341196|360980|400464|401092|401108|415444|437987|464430|464449|465054|465074|465080|465241|465249|465256|465312|465324|465348|529004|529009|529404|529589|529590|529593|567222|567226|567229|567230|569054|569061|569566|569569|569570|569582|573480|573481|573487|573490|614165|682307|682308|682309|682310|682311|682312|688474|688477|791479|799816|822307|874018|874019|874021|874024|874025|874026|874027|874028|874029|874031|874032|874033|874034|874038|919592|964424|971027|981927", + "text": "Loeys-Dietz syndrome 3" + }, + { + "baseId": "39272|227659|402429|550629|653822", + "text": "Coffin-Siris syndrome 5" + }, + { + "baseId": "39272|45820|70490|70491|70492|70493|139022|139024|208396|233842|242736|242737|242738|242739|242740|242741|242742|242743|242744|242745|242746|359974|397335|401901|401903|401904|401906|401908|401914|401956|401961|401970|401971|401977|401981|401982|401985|401990|402423|402428|402429|402429|402433|402437|402438|402611|407985|460522|466771|466773|466776|466777|466780|466784|466786|466787|466796|466800|466803|467649|467650|467655|467658|467826|467830|467834|467840|467850|468011|468015|468017|468018|468021|468024|468027|468030|468036|470130|475248|478501|478514|478520|478533|478631|512279|525742|530977|530978|530979|530983|530984|530986|530987|530990|530992|531106|531109|531111|531114|531117|531120|531190|531199|531202|531206|531207|531209|531470|531477|531478|531489|534181|534181|569025|569026|569028|569030|569034|571095|571098|574062|574080|574451|575807|626284|639262|645834|645835|645836|645837|645838|645839|645840|645841|645842|645843|645844|645845|645846|645847|645848|645849|645850|645851|652942|653109|653269|688762|688764|694081|694082|694083|694084|695742|704123|715429|727153|755821|760425|771474|799619|813598|813602|813604|813606|813608|813609|813610|813612|813613|813616|813624|813629|813633|813635|821041|845270|845271|845272|845273|845274|845275|845276|845277|845278|845279|845280|845281|845282|845283|845284|845285|845286|845287|845288|845289|845290|845291|845292|845293|845294|852740|919252|919726|919954|920425|920426|928242|928243|928244|928245|928246|928247|928248|937905|937906|937907|937908|937909|937910|937911|937912|937913|937914|937915|940410|940411|949897|949898|949899|949900|949901|949902|949903|949904|949905|958098|958099|958100|958101|960216|960217", + "text": "Meningioma, familial" + }, + { + "baseId": "39279|106392|106393|106394|106395|106396|106397|250580|250581|250582|284888|284890|284891|284895|284901|284908|284917|284918|284919|284927|284929|284931|284932|284933|284937|284944|284950|285544|285564|285572|285574|285576|285577|285578|285579|285590|285593|285595|285598|285604|285612|287888|287890|287895|287908|287920|287924|287926|287927|287930|287931|287932|287934|288135|288136|288137|288146|288149|288151|288169|288184|288186|288198|288199|288204|288206|883893|883894|883895|883896|883897|883898|883899|883900|883901|883902|883903|883904|883905|883906|883907|883908|883909|883910|883911|883912|883913|883914|883915|883916|883917|883918|883919|883920|883921|883922|883923|883924|883925|883926|883927|883928|883929|883930|883931|883932|883933|883934|883935|883936|883937|883938|883939|883940|883941|887282|887283|963123|964195", + "text": "Pseudohypoaldosteronism type 2E" + }, + { + "baseId": "39279|39473|39474|39475|39476|39477|39478|39479|39480|106392|106393|106394|106395|106396|106397|106398|106399|106400|106401|106402|106403|106404|106405|106406|106407|106408|106409|106410|106411|106413|106414|106415|106416|106417|106418|106421|106422|106425|106427|192995|260864|318655|318659|318675|318687|326790|326934|328531|328556|332884|332972|333031|333048|333051|333068|333083|333105|334543|334549|334732|334798|334799|334803|334807|334811|334818|334825", + "text": "Pseudohypoaldosteronism type 2A" + }, + { + "baseId": "39280|39281|39282|343796|343800|343804|349089|350013|350016|380145|539093|621872|648173|882150|882151|882152|882153|882154|882909|882910|882911", + "text": "Hereditary spastic paraplegia 12" + }, + { + "baseId": "39287|39288|188958|213535|226702|285325|285340|285341|285358|285360|285368|285369|285973|285974|285978|285992|285996|285997|286004|286005|286006|288312|288315|288317|288318|288339|288340|288342|288343|288739|288740|288741|288759|288767|884168|884169|884170|884171|884172|884173|884174|884175|884176|884177|884178|884179|884180|884181|884182|884183|884184|884185|884186|884187|884188|905049|966579|966580|966581", + "text": "Leber congenital amaurosis 16" + }, + { + "baseId": "39289|39290|39291|39292|538452|791580|791581|980372", + "text": "Spondyloepimetaphyseal dysplasia with joint laxity, type 2" + }, + { + "baseId": "39298|39299|39300|39301|39302|39303|131893|208522|208522|208527|208529|243129|243191|243228|243251|390651|402865|402923|403125|403126|403448|410423|410427|430124|446024|468417|469136|469558|469573|469702|479479|479496|479504|533038|572136|611429|613500|647559|647574|647611|677460|798740|970550", + "text": "Mental retardation, autosomal dominant 16" + }, + { + "baseId": "39305|492928", + "text": "Hypogonadotropic hypogonadism 13 with or without anosmia" + }, + { + "baseId": "39307|39308|39309|195974|205769|320695|490260|492179|552151|896571", + "text": "Peroxisome biogenesis disorder 8B" + }, + { + "baseId": "39311|39312|491077|790769|815955|815957|980928", + "text": "Nail disorder, nonsyndromic congenital, 1" + }, + { + "baseId": "39311|39312", + "text": "Nail disease" + }, + { + "baseId": "39313|39314|39316|99992|135702|135704|135705|135706|135707|135709|135711|135714|135716|142779|167457|167458|178055|178058|178059|191022|191370|192649|231501|250347|272066|273736|282546|282559|282565|282569|282570|282573|282582|282586|282594|282598|282599|282600|282604|283199|283202|283206|283209|283226|283227|283243|283257|283258|283259|283267|283293|283307|283310|283311|283322|283323|283334|283354|283355|283356|283357|284810|284812|284826|284836|284837|284838|284841|284842|284849|284866|284868|284873|284879|284887|285259|285268|285269|285288|285292|285295|285305|285321|285322|285329|285332|285355|285356|285357|285359|285361|285362|285364|285365|285367|285388|285390|285402|285406", + "text": "Small fiber neuropathy" + }, + { + "baseId": "39317|359095|359096|359097", + "text": "Mental retardation, autosomal recessive 34" + }, + { + "baseId": "39329|172080|244154|576110|581710", + "text": "Hypomyelinating leukodystrophy 3" + }, + { + "baseId": "39330|192389|192390|195682|195683|255331|255332|255333|268403|270751|271809|323079|323080|323081|323086|323088|323089|323090|323100|323102|323105|332704|332707|332711|332716|332718|332720|332723|332728|332735|332745|332750|339695|339696|339698|339699|339700|339701|339702|339703|339709|339711|341070|341072|341074|341076|341078|341079|341080|341081|341083|341087|341088|341089|341090|341094|341095|341096|341097|482298|482299|482300|482301|551579|620525|726210|873980|873981|873982|873983|873984|873985|873986|873987|873988|873989|873990|873991|873992|873993|873994|873995|873996|873997|873998|873999|874000|874001|874002|874003|874004|874005|874006|874007|874008|874009|874010|874011|874012|874013|874014|874015|874016|874017|876553|876554|876555|876556|876557|876558|876559", + "text": "Congenital stationary night blindness, type 1D" + }, + { + "baseId": "39331|451486|451491|451492|451497|451499|451752|451836|451945|451946|518652|518677|518750|518758|518759|518848|518851|518857|558692|559203|560997|560999|561001|561002|562100|562118|624249|630614|630615|630616|630617|630618|630619|630620|630621|630622|630623|630624|630625|630626|630627|630628|651011|651017|651097|708410|708411|708412|708413|720005|720008|733625|733626|733627|743971|743980|747813|759288|759293|763456|763458|763461|819282|819283|827106|827107|827108|827109|827110|827111|827112|827113|827114|827115|827116|827117|827118|827119|827120|827121|827122|827123|827124|827125|827126|851442|851444|922946|922947|922948|922949|922950|931616|931617|931618|943149|943150|943151|943152|943153|943154|960492", + "text": "Inflammatory skin and bowel disease, neonatal 1" + }, + { + "baseId": "39332|39333|39335|39336|672352|672353|672354|672355", + "text": "Congenital cataracts, hearing loss, and neurodegeneration" + }, + { + "baseId": "39340|39341|39342|39343|39344|39345|39346", + "text": "Blood group, Junior system" + }, + { + "baseId": "39342|39343|39346", + "text": "Uric acid concentration, serum, quantitative trait locus 1" + }, + { + "baseId": "39346", + "text": "rosuvastatin response - Efficacy" + }, + { + "baseId": "39346", + "text": "allopurinol response - Dosage, Efficacy" + }, + { + "baseId": "39346|135788|678115", + "text": "Gemcitabine response" + }, + { + "baseId": "39347|314624|314628|314629|314633|314635|314640|314647|314650|314653|314658|321328|321330|321335|321336|321341|327481|327485|327486|328520|328523|328529|713049|868286|868287|868288|868289|868672", + "text": "Nestor-Guillermo progeria syndrome" + }, + { + "baseId": "39348|211645|578641|791236|905867", + "text": "Mitochondrial complex 1 deficiency, nuclear type 26" + }, + { + "baseId": "39349|39350|359099|359100|620073", + "text": "Mitochondrial complex 1 deficiency, nuclear type 22" + }, + { + "baseId": "39357|39358|39359|39360|39361|40319|48561|48562|134419|134420|134421|199808|208399|208400|213646|375142|415565|424666|429977|481240|513468|552204|677984|682841|791782|800835|917750|919733|919734|920373|961642|966002|966003|966004|966043|971081|971082|973043", + "text": "Mandibulofacial dysostosis-microcephaly syndrome" + }, + { + "baseId": "39363|141192|190439|205537|208401|344974|346298|685435", + "text": "Epilepsy, progressive myoclonic 6" + }, + { + "baseId": "39365|132702|135547", + "text": "Seckel syndrome 2" + }, + { + "baseId": "39366|330837|347942|919789", + "text": "Microcephaly with mental retardation and digital anomalies" + }, + { + "baseId": "39367|39367|39368|187689|191369|191537|194164|194191|196235|207865|265791|266013|267194|270150|270796|270975|272453|272457|274999|314218|314221|314230|314232|314240|314249|320780|320783|320790|320821|320837|320852|320855|326846|326853|326855|326859|326875|326887|326891|327795|327798|327800|327817|327830|327858|327869|360043|371427|429241|444807|461121|461131|461137|461332|461333|461623|461624|461625|461626|461627|461630|461932|461939|461943|461953|488690|488691|488694|526218|526223|526224|526226|526227|526228|526409|526415|526429|526434|526706|526708|526713|526719|564646|564647|564651|564654|564655|564662|564669|564671|565803|565805|567275|567276|567280|567282|570669|570670|570671|570673|640069|640070|640071|640072|640073|640074|640075|640076|640077|640078|640079|640080|640081|640082|640083|640084|640085|640086|640087|640088|640089|640090|652547|693032|693033|693034|693037|693039|693040|693042|693043|693044|693045|695516|695518|701776|701777|701778|701780|712847|712848|712849|724460|724462|724464|752689|768468|784012|796596|838472|838473|838474|838475|838476|838477|838478|838479|838480|838481|838482|838483|838484|838485|838486|852613|926251|926252|926253|926254|926255|935567|935568|935569|935570|935571|935572|935573|935574|935575|935576|940214|940998|947480|947481|947482|947483|956513|956514|956515|959990", + "text": "Sclerosteosis 2" + }, + { + "baseId": "39367|187688|187689|187689|191369|191537|194164|194191|196235|207865|265791|266013|267194|270150|270796|270975|272453|272457|274999|314218|314221|314230|314232|314240|314249|320780|320783|320790|320821|320837|320852|320855|326846|326853|326855|326859|326875|326887|326891|327795|327798|327800|327817|327830|327858|327869|360043|371427|429241|444807|461121|461131|461137|461332|461333|461623|461624|461625|461626|461627|461630|461932|461939|461943|461953|488690|488691|488694|526218|526223|526224|526226|526227|526228|526409|526415|526429|526434|526706|526708|526713|526719|564646|564647|564651|564654|564655|564662|564669|564671|565803|565805|567275|567276|567280|567282|570669|570670|570671|570673|626206|640069|640070|640071|640072|640073|640074|640075|640076|640077|640078|640079|640080|640081|640082|640083|640084|640085|640086|640087|640088|640089|640090|652547|693032|693033|693034|693037|693039|693040|693042|693043|693044|693045|695516|695518|701776|701777|701778|701780|712847|712848|712849|724460|724462|724464|752689|768468|784012|796596|838472|838473|838474|838475|838476|838477|838478|838479|838480|838481|838482|838483|838484|838485|838486|852613|926251|926252|926253|926254|926255|935567|935568|935569|935570|935571|935572|935573|935574|935575|935576|940214|940998|947480|947481|947482|947483|956513|956514|956515|959990", + "text": "Myasthenic syndrome, congenital, 17" + }, + { + "baseId": "39369|322652|429675|512944|567103|569423|643288|643289|643290|643291|643292|643293|643294|726111|754490|815879|815880|842427|842428|927343|927344|948911|960822", + "text": "Hermansky-Pudlak syndrome 9" + }, + { + "baseId": "39370|39371|39372|135015|135016|135017|135018|135019|135020|135021|135022|135023|135024|135025|135026|135027|199791|207661|207663|207664|207665|207666|207667|207669|207671|207672|207673|307698|307706|307708|307709|307711|307712|311945|311956|311958|311961|311962|311963|311964|311967|311970|317545|317547|317558|317563|317565|317566|317573|317576|317577|317579|317593|317599|317604|317611|317615|318053|318069|318071|318073|318074|318075|318079|318081|318082|318085|318087|318089|318092|318096|318098|428958|428961|428964|428966|428967|438578|438957|459360|486814|511822|524425|524429|524721|524724|565808|579585|579630|579631|579646|579647|579652|579661|579817|579821|586585|620326|638105|711892|730625|751586|751589|777813|779313|783365|783366|790873|805616|835933|835934|901572|901573|901574|901575|901576|901577|901578|901579|901580|901581|901582|901583|901584|901585|901586|901587|901588|901589|901590|901591|901592|901593|901594|901595|903356|903357|903358|934682|946533|955772|971358|971361|971362|971363|971365|971366", + "text": "Mental retardation, autosomal recessive 15" + }, + { + "baseId": "39372", + "text": "MAN1B1-Related Disorders" + }, + { + "baseId": "39373|39374|39375|39376|134895|134897|134900|134901|134902|134906|134911|134913|134914|134916|134920|134923|191237|192120|192121|207620|264389|407563|421717|508834|538405|552132|552133|578473|796244|919192", + "text": "Cortical malformations, occipital" + }, + { + "baseId": "39384|172197|211841|211847|361845|537303|539078|961427|961428|961436", + "text": "Spastic ataxia 5, autosomal recessive" + }, + { + "baseId": "39391|39392|39393|361118", + "text": "Progressive external ophthalmoplegia" + }, + { + "baseId": "39394|39396|39444|39445|40587|247077|254467|254468|254469|254470|254471|254472|254473|316517|316522|316528|316532|316533|316535|316536|316537|316539|316545|316546|316566|316567|316577|316578|316587|316588|316593|316594|316599|316600|316604|316615|316616|316620|324045|324048|324053|324054|324055|324062|324066|324067|324068|324074|324078|324079|324080|324083|324092|324095|324098|324099|324100|324102|324104|324112|330011|330023|330039|330043|330044|330045|330050|330051|330055|330059|330061|330068|330070|330077|330084|330086|331377|331393|331394|331406|331407|331411|331423|331433|331438|331441|331442|331452|331454|331455|331457|331458|331465|331466|331467|331470|331471|331490|331506|331508|331512|331517|331518|331524|331528|433929|433930|609824|620432|620433|620434|620435|620436|620437|620842|620843|620844|620845|620846|725038|725039|738584|738585|738586|753295|799669|799674|869593|869594|869595|869596|869597|869598|869599|869600|869601|869602|869603|869604|869605|869606|869607|869608|869609|869610|869611|869612|869613|869614|869615|869616|869617|869618|869619|869620|869621|869622|869623|869624|869625|869626|869627|869628|869629|869630|869631|869632|869633|869634|869635|869636|869637|869638|869639|869640|869641|869642|869643|869644|869645|869646|872218|872219|872220|872221|872222|872223|872224|904186|965895|981776|981777|981778|981779|981780|981781|981782|981783|981784|981785|981786", + "text": "Rotor syndrome" + }, + { + "baseId": "39399|140122|152910|152911|425669|430994|434605|538381|550601|611643|790588", + "text": "Mental retardation, autosomal recessive 18" + }, + { + "baseId": "39402|576070|970948", + "text": "Developmental and epileptic encephalopathy, 67" + }, + { + "baseId": "39404|39405", + "text": "Radiohumeral fusions with other skeletal and craniofacial anomalies" + }, + { + "baseId": "39406", + "text": "Deafness, autosomal dominant 64" + }, + { + "baseId": "39407|39408|227268|799358", + "text": "Preeclampsia/eclampsia 5" + }, + { + "baseId": "39409|39410|39411|227203|439996|550576", + "text": "Familial acne inversa 1" + }, + { + "baseId": "39412|39413|39414|39415|101850|141305|141306|141307|141309|141310|141311|141312|141313|141314|186288|194483|198533|198536|198538|222854|259064|259066|410754|422320|446245|470900|497751|508934|512963|818345", + "text": "Familial hypertrophic cardiomyopathy 17" + }, + { + "baseId": "39422|240900|360879|361092|454614|462979|514048|514112|576328", + "text": "Clinodactyly of the 5th finger" + }, + { + "baseId": "39434|39435|39436|39437|39438|214528|247410|247411", + "text": "Langereis blood group" + }, + { + "baseId": "39439|39440|79365|904247", + "text": "Microphthalmia, isolated, with coloboma 7" + }, + { + "baseId": "39443|337275|337277|337278|337291|337294|337296|337298|337299|337314|337322|337333|337335|337336|337340|337349|337354|337373|337381|337402|337403|337405|337413|337430|337431|337434|337441|346962|346963|346969|346971|346972|346979|346980|346983|346984|346988|346990|346991|346995|346997|347007|347009|347016|347023|347028|347034|347056|347057|351006|351008|351011|351013|351016|351018|351020|351026|351028|351033|351037|351039|351046|351054|351055|351058|351059|351062|351063|351066|351067|351071|351089|351092|351097|351100|351101|351102|352008|352009|352011|352012|352013|352015|352016|352017|352020|352040|352041|352044|352047|352048|352049|352072|352073|352074|352079|352083|352088|352106|352110|352111|352115|352121|352125|352127|352129|352134|359109|359110|359111|359112|359113|469873|469878|469880|470892|470896|470898|471314|471315|471316|471791|471793|534025|534027|534033|534038|534041|534126|534132|534135|534144|534566|534571|534572|534576|534579|534585|534592|571675|571679|571680|571682|571683|571685|573236|573239|573241|573242|573942|575209|575210|575211|614484|649137|649138|649139|649140|649141|649142|649143|649144|649145|649146|649147|649148|649149|649150|649151|649152|649153|649154|649155|649156|649157|649158|649159|649160|649161|649162|717276|717277|717278|728991|728992|728993|728994|728995|728996|728997|742729|757909|757911|757912|760973|773417|776717|786540|821397|848984|848985|848986|848987|848988|848989|848990|848991|848992|848993|848994|848995|848996|848997|848998|848999|849000|849001|849002|849003|849004|849005|849006|849007|852918|887129|887130|887131|887132|887133|887134|887135|887136|887137|887138|887139|887140|887141|887142|887143|887144|887146|887147|887148|887149|887150|887152|887153|887154|887155|887156|887157|887158|887160|887161|887162|887163|887164|887165|887166|887167|887169|887170|887171|887172|887173|887174|887175|887176|887177|887178|887179|887180|887181|887182|887183|887184|887185|887186|887187|887188|887189|887190|887191|887192|887193|887194|887195|887196|887197|887198|887199|887200|887201|887202|887203|887204|887205|887206|887207|887208|887209|887210|887211|887212|929388|929389|929390|929391|929392|939173|939174|939175|939176|939177|939178|939179|951296|951297|951298|951299|951300|951301|951302|951303|951304|951305|951306|951307|951308|951309|959013|959014|959015|960337", + "text": "Immunodeficiency 51" + }, + { + "baseId": "39446|39447|39448|48518|48519|48520|84944|170217|170218|281597|281598|281600|281606|281607|281611|282255|282256|282258|282259|282260|282269|282270|282272|282274|282289|283590|283603|283604|283611|283612|283620|283621|283623|283631|283638|283639|283788|283791|283792|283793|283794|283795|283800|283804|283807|283819|283822|283825|283826|283851|353536|486247|516296|516298|516311|516323|516324|516327|516398|559182|612557|620734|628413|628414|628415|732719|743807|762160|762161|819043|824716|824717|824718|824719|850832|880862|880863|880864|880865|880866|880867|880868|880869|880870|880871|880872|880873|880874|880875|882783|930789|930790", + "text": "Pustular psoriasis, generalized" + }, + { + "baseId": "39451|39452|309029|426755|552107|552108", + "text": "Ichthyosis, spastic quadriplegia, and mental retardation" + }, + { + "baseId": "39455|39456|39457|39458|39459|134113|134129|134132|208308|429860|429864|434653|715196", + "text": "Meier-Gorlin syndrome 4" + }, + { + "baseId": "39460|39461|39463|679353", + "text": "Platelet-type bleeding disorder 11" + }, + { + "baseId": "39465|39466|40446|40447|40448|54943|54945|54949|54952|142112|142113|209638|227266|229156|292142|508791|550864", + "text": "Familial hypertrophic cardiomyopathy 16" + }, + { + "baseId": "39468|39469|39470|39471|188968|237238|257465|257466|257467|257468|257469|257470|336829|336830|336833|336835|336838|336839|336840|346486|346496|346497|346498|346499|346502|346503|346507|346509|346511|346520|350694|350699|350700|350703|350704|350707|350708|350711|350713|350716|350717|350720|350721|350724|350725|350726|350728|351762|351763|351765|351768|351770|351773|351774|351776|351777|351778|351779|351780|351782|351786|351789|351791|351795|552226|576315|717217|728918|731374|742648|742649|757824|757830|757832|757833|773354|805042|886798|886799|886800|886801|886802|886803|886804|886805|886806|886807|886808|886809|886810|886811|886812|886813|886814|886815|886816|886817|886818|886819|886820|886821|886822|886823|886824|886825|886826|886827|886828|886829|886830|886831|886832|886833|886834|886835|886836|886837|886838|886839|886840|886841|886842|887510|887511", + "text": "Bartsocas-Papas syndrome" + }, + { + "baseId": "39472|39473|39474|39475|39476|39477|39478|39479|39480|40222|40223|40224|214534|251701|251704|251708|295398|295409|295425|295426|295429|295430|295435|295438|295443|295445|295446|295453|295456|295461|295469|295470|297203|297204|297211|297212|297218|297231|297234|297235|297236|297242|297243|297244|297246|297249|297250|297257|297259|297260|301006|301017|301019|301021|301034|301035|301060|301067|301079|301082|301087|301091|301094|301097|301099|301103|301104|301107|301109|301124|301132|301158|301161|301170|301171|301173|301183|301185|301186|301187|301197|301215|301216|301226|301253|301264|622346|892965|892966|892967|892968|892969|892970|892971|892972|892973|892974|892975|892976|892977|892978|892979|892980|892981|892982|892983|892984|892985|892986|892987|892988|892989|892990|892991|892992|892994|892995|892996|892997|893001|893002|893005|893006|893011|893012|893013|896033|896034", + "text": "Pseudohypoaldosteronism type 2D" + }, + { + "baseId": "39482|39483|39484|39485|47604|47604|47605|59481|59482|213599|253844|264349|311064|322495|323175|353900|431920|481403|514612|550617|550618|552633|583107|614350|614351|624855|677431|798626|798627|816515|818392|919286|919287|920285|964345|965204|967124|976660", + "text": "Blepharophimosis - intellectual disability syndrome, SBBYS type" + }, + { + "baseId": "39487|39489|39490|47604|47604|150148|150150|150152|207791|253844|253845|253846|253847|253849|253851|253852|322482|322517|495257|514612|552145|552633|563951|566503|614350|614351|639160|639161|677431|692889|775720|790982|790983|790984|837307|837308|837309|837310|837311|947073|967124|976660", + "text": "Genitopatellar syndrome" + }, + { + "baseId": "39492|66321|133499|222576|363242", + "text": "Diffuse intrinsic pontine glioma" + }, + { + "baseId": "39501|39502|39503|39504|169314|169315|169316|169317|169318|169319|169320|169321|169322|169323|169324|169325|169326|169327|169328|169329|169330|169331|327361|327365|343427|343430|343431|343441|343443|345028|345029|345030|361006|620883|626251|876845|876846|876847|876848|876849|876850|880467|919704", + "text": "CHIME syndrome" + }, + { + "baseId": "39501|169319|169322|169325|327361|327365|343427|343430|343431|343441|343443|345028|345029|345030", + "text": "Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome" + }, + { + "baseId": "39506|106812|106813|215560|259227|259228|259229|259230|259231|259232|259233|259234|376028|376041|389175|390374|390379|410404|415607|415608|439466|439467|442036|445996|445999|446000|446001|446002|468085|468089|468107|468108|468112|468122|468127|468131|468133|469021|469022|469029|469032|469039|469046|469049|469052|469059|469060|469424|469426|469432|469443|469444|469446|469866|469869|469872|469890|469892|469898|469900|469903|469904|481446|508906|513652|513653|532326|532328|532330|532338|532341|532347|532360|532365|532367|532369|532370|532374|532377|532475|532481|532483|532792|532794|532800|532806|532810|532814|532819|570244|570246|570248|570250|571985|571991|571993|571999|572003|572006|572535|572679|572682|572689|572692|574775|574776|574777|574778|574779|574780|574781|574782|577692|577695|577696|577697|580321|580383|580391|580425|580544|589286|626270|647367|647368|647369|647370|647371|647372|647373|647374|647375|647376|647377|647378|647379|647380|647381|647382|647383|647384|647385|647386|647387|647388|647389|647390|647391|647392|647393|647394|647395|647396|652884|652904|652910|652911|653081|653377|653410|653414|682107|694290|704642|704643|704644|704645|704646|704647|716020|716021|731222|741420|741422|745032|756501|756502|756505|756506|756509|756510|756513|778590|785966|791880|798738|821197|846984|846985|846986|846987|846988|846989|846990|846991|846992|846993|846994|846995|846996|846997|846998|846999|847000|847001|847002|847003|847004|847005|847006|847007|847008|847009|847010|847011|847012|847013|847014|852285|852288|852291|852294|852826|852937|852939|857693|860492|928752|928753|928754|928755|928756|928757|928758|928759|928760|928761|928762|928763|928764|928765|928766|928767|938478|938479|938480|938481|938482|938483|938484|938485|938486|938487|938488|938489|938490|938491|940460|941215|941216|950573|950574|950575|950576|950577|950578|950579|950580|958488|958489|958490|958491|958492|960272|960906|960907|960908|970549", + "text": "Multiple congenital anomalies-hypotonia-seizures syndrome 1" + }, + { + "baseId": "39508", + "text": "Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3" + }, + { + "baseId": "39517|39518|247192|384424|976673|976674", + "text": "Schizophrenia 15" + }, + { + "baseId": "39519|39520|39521|39522|39523|137712|331230|399906|399958|400191|464570|464635|477067|528380|566698|573026|917735", + "text": "Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors" + }, + { + "baseId": "39525|39526|39527|39528|39529|141396|141397|211314|211315|211318|259853|370907|406999|432357|432358|456749|457017|481493|501893|522381|522383|523096|523098|561622|561634|566067|635840|635841|635842|635843|635844|635845|635846|635847|635848|651585|651608|651645|651776|710849|750474|750478|766143|766145|787505|819834|819835|819836|819837|819838|819839|819840|833261|833262|833263|833264|833265|833266|833267|833268|833269|833270|833271|924727|924728|924729|933736|933737|933738|945500|945501|961236|961237", + "text": "Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)" + }, + { + "baseId": "39530|227735", + "text": "MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS" + }, + { + "baseId": "39531|39532", + "text": "Retinitis pigmentosa 61" + }, + { + "baseId": "39536", + "text": "Osteomyelitis leading to amputation due to slow healing fractures" + }, + { + "baseId": "39536", + "text": "Penetrating foot ulcers" + }, + { + "baseId": "39536|361025", + "text": "Distal sensory impairment" + }, + { + "baseId": "39544|39545|135824|195354|391252|427838|794110", + "text": "Mental retardation, autosomal recessive 12" + }, + { + "baseId": "39546|227301|300695|300697|300705|303620|303622|303623|308159|308161|308169|308220|308229|308230|456243|521692|560746|563629|563632|634979|634980|634981|765741|819698|832032|832033|832034|832035|832036|896665|896666|896667|900248|900249|924377|924378|924379|933356|945061|945062|945063|945064|954498|954499", + "text": "Candidiasis, familial, 6" + }, + { + "baseId": "39547|195408|430007|432359|432360|432361|432362|481466", + "text": "Striatal necrosis, bilateral, and progressive polyneuropathy" + }, + { + "baseId": "39548|462737|527886|641392|641393|702512|702513|725280|926738", + "text": "Klippel-Feil syndrome 3, autosomal dominant" + }, + { + "baseId": "39548", + "text": "Missing ribs" + }, + { + "baseId": "39548", + "text": "Supernumerary ribs" + }, + { + "baseId": "39548|377641|966697|966704", + "text": "Hemivertebrae" + }, + { + "baseId": "39549|39550", + "text": "Microphthalmia, isolated 7" + }, + { + "baseId": "39555|140023|140025|140026|140027|140028|140029|172155|211999|212000|212001|243739|244166|288934|290052|292635|292640|293546|293586|300336|300339|300340|300368|303215|307681|307845|307865|307869|310954|310959|316234|322354|322361|322363|322914|322916|322918|322934|323545|324778|324927|324935|326185|329724|330971|334395|334560|334562|334578|338837|340989|342504|342509|342515|342525|352058|360628|379916|404439|404484|438582|471256|471693|472053|500638|507839|508492|534492|534507|534509|534600|537587|575325|585859|649669|649670|649671|649672|649673|649674|649675|649676|649677|649678|649679|649680|653773|684944|689335|690250|717644|758294|849603|849604|849605|849606|849607|849608|849609|849610|849611|849612|902774|905514|929561|929562|929563|939423|939424|939425|939426|951590|951591|951592|959163|959164|959165", + "text": "Combined oxidative phosphorylation deficiency" + }, + { + "baseId": "39556|39557|39558|39559|190553|193642|195734|202871|445413|569589|972210|972211|972212", + "text": "Adult neuronal ceroid lipofuscinosis" + }, + { + "baseId": "39562|335338|335358|335359|335360|335361|335369|335371|335374|335378|345199|345200|345203|345205|349932|349936|349937|349940|349941|349943|349944|350941|350942|350945|350947|350950|350951|350954|350955|350958|575091|575091|757496|886058|886059|886060|886061|886062|886063|886064|886065|886066|886067|886068|886069|886070|886071|887457|887458", + "text": "Chilblain lupus 2" + }, + { + "baseId": "39564|50319|50320|50321|508863|508864|815993|919341", + "text": "Hemorrhagic destruction of the brain, subependymal calcification, and cataracts" + }, + { + "baseId": "39579|39580|39581|39582|142157", + "text": "Mitochondrial complex 1 deficiency, nuclear type 11" + }, + { + "baseId": "39585|101888|101888|177144|177144|181437|190600|190601|237188|237188|319769|319770|319770|319781|319782|319790|319802|319805|319806|319808|319809|328296|328297|328299|328301|328301|328304|328304|328309|328310|328314|328325|328344|334768|334769|334775|334776|334779|334782|334782|334793|334795|336504|336505|336510|336512|336513|336519|372822|372827|373841|426044|463273|480625|480626|485963|485964|485965|485966|504270|527728|527728|527763|566119|567579|576160|578508|641939|641940|688170|688170|695598|695598|702685|730919|730919|769560|769561|784600|791344|805024|818397|840886|840887|840888|840889|840890|871286|871287|871288|871289|871290|871291|871292|871293|871294|871295|871296|871297|871298|871299|871300|871301|871302|871303|871304|871305|871306|871307|871308|871309|871310|871311|871312|871313|871314|872335|872336", + "text": "Congenital disorder of glycosylation type 2L" + }, + { + "baseId": "39586|141821|141822|201765|201767|201769|201770|201771|201772|201773|201774|201775|201778|226379|226380|367956|367959|368012|453153|453154|453157|453421|453427|453531|453533|453616|514496|519903|519907|519921|519925|519929|519930|519931|519939|520152|520183|520185|559673|559675|559677|559679|559681|559702|559834|559836|559838|562003|562004|562007|562008|562012|562013|563690|563700|563701|576782|586275|632198|632199|632200|632201|632202|632203|651190|695235|764460|764461|829143|829144|829145|829146|829147|829148|829149|829150|850986|905866|918893|918894|923507|923508|923509|923510|923511|923512|923513|932329|932330|932331|932332|932333|932334|932335|932336|932337|939967|943993|943994|943995|943996|943997|943998|966794|966795", + "text": "Pyruvate dehydrogenase lipoic acid synthetase deficiency" + }, + { + "baseId": "39587", + "text": "Psoriasis susceptibility 13" + }, + { + "baseId": "39588|39590|39591|39592|49863|49909|190898|204645|432334|619859|971076", + "text": "Bruck syndrome 1" + }, + { + "baseId": "39593|39594|39595|190053|227388|328051|328056|328072|328078|328080|328104|337890|337902|337922|337928|337932|344128|344152|345491|345524|345529|345544|791742", + "text": "Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques" + }, + { + "baseId": "39600|434582|677003", + "text": "Combined oxidative phosphorylation deficiency 9" + }, + { + "baseId": "39602|39603|39604|39605|39606|39607|251148|251149|251150|251151|251152|251154|251156|251157|251158|251159|251160|251161|251162|251163|251164|251165|251166|251167|251168|290588|290594|290595|290602|290606|290608|290612|290615|290616|290625|290627|290628|290632|290635|290636|290638|290640|290641|290644|290645|290652|290653|290663|290666|290670|290675|291470|291471|291472|291474|291476|291482|291488|291501|291505|291508|291510|291516|291517|291519|291521|291527|291543|291545|291548|291554|291555|291564|291565|291572|291589|291592|291606|291607|291608|294727|294728|294729|294731|294746|294747|294751|294752|294753|294763|294766|294767|294770|294772|294775|294776|294777|294780|294781|294782|294785|294787|295094|295095|295099|295106|295113|295114|295130|295131|295137|295144|295147|295148|295160|295162|295166|295167|295168|295170|295177|295181|295183|295189|295190|424503|424504|452427|452434|452436|452648|452656|452660|452662|452741|452742|452983|452985|452987|519310|519353|519554|631453|631454|631455|631456|631457|681803|686429|691422|691423|691424|695204|828187|828188|859272|889037|889038|889039|889040|889041|889042|889043|889044|889045|889046|889047|889048|889049|889050|889051|889052|889053|889054|889055|889056|889057|889058|889059|889060|889061|889062|889063|889064|889065|889066|889067|889068|889069|889070|889071|889072|889073|889074|889075|889076|889077|889078|889079|889080|889081|889082|889083|889084|889085|889086|889087|889088|889089|889090|889091|889092|889093|889094|889095|891650|891651|891652|891653|923218|931962|931963|943571|970768|970769", + "text": "Cataract 18" + }, + { + "baseId": "39612|39613|135311|135312|247698|247699|247700|255744|255745|325373|325377|325378|325386|325388|325390|325391|325393|325399|341512|343012|343015|343019|343027|343031|343039|429811|429813|620542|620876|875306|875307|875308|875309|875310|875311|875312|875313|875314|875315|875316|875317|875318|966042", + "text": "Meier-Gorlin syndrome 3" + }, + { + "baseId": "39614|227500", + "text": "Dentin dysplasia, type I, with extreme microdontia and misshapen teeth" + }, + { + "baseId": "39615|133856|208092|236721|236722|404816", + "text": "Spastic paraplegia 52, autosomal recessive" + }, + { + "baseId": "39616|39617|39618|133849|133850|133851|373594|465261|622907", + "text": "Spastic paraplegia 51, autosomal recessive" + }, + { + "baseId": "39619|39620|166193|167564|167565|167566|167567|167568|167569|167570|167572|167574|167575|206568|206709|215180|221075|238125|238126|238127|364370|390789|390791|404883|427625|427626|427629|446986|447057|447094|447100|447102|447141|515015|515043|515044|556842|556847|556980|556982|578704|578715|626641|626642|626643|626644|626645|626646|626647|626648|626649|626650|683272|683275|685548|816519|818839|822560|822561|822562|822563|920121|920122|921589|921590|929977|941393|964124|964642", + "text": "Spastic paraplegia 47, autosomal recessive" + }, + { + "baseId": "39635|39636|48439", + "text": "Focal facial dermal dysplasia 3, Setleis type" + }, + { + "baseId": "39638|39639|439997|439998|439999|440000|440001|508923", + "text": "Acne inversa, familial, 2" + }, + { + "baseId": "39640|39641|309343|309344|309348|309349|309355|309356|309360|309363|309365|309366|309373|309374|314031|314038|314049|314051|314056|314057|314058|319931|319940|319942|319953|319954|319962|319964|319966|319968|319972|319976|320458|320477|320478|320481|320484|320488|320492|751932|767613|865326|865327|865328|865329|865330|865331|865332|865333|865334|865335|865336|865337|865338|865339|865340|865341|865342|865343|919253|920277", + "text": "Hypomagnesemia 6, renal" + }, + { + "baseId": "39647|39648|39649|241215|241216|241217|398390|398393|398398|398481|398483|398786|398928|398929|398932|461722|461724|461730|462036|462037|462352|462355|462356|526528|526529|526539|526546|526550|526585|526587|526806|526808|527096|527100|527102|527108|564940|564947|564949|566223|566226|566234|566236|567575|571048|571050|626211|640525|640526|640527|640528|640529|640530|640531|640532|640533|652248|684269|685295|685296|687832|687833|687835|687836|687837|687838|693120|791184|839173|839174|839175|839176|839177|839178|839179|839180|839181|839182|839183|839184|839185|839186|839187|839188|839189|851468|852648|926418|926419|926420|926421|926422|926423|926424|926425|926426|935862|935863|935864|935865|935866|935867|935868|935869|935870|935871|935872|935873|935874|947735|947736|947737|947738|947739|947740|947741|947742|947743|947744|947745|947746|947747|956719|956720|956721|965927", + "text": "Mosaic variegated aneuploidy syndrome 2" + }, + { + "baseId": "39650|39651", + "text": "Stuttering, familial persistent 2" + }, + { + "baseId": "39653|39654|39655|96881|106505|185944|185946|185947|185948|244133|244134|244135|246742|590322|682339|815882|919641|919642", + "text": "Spondylocostal dysostosis 5" + }, + { + "baseId": "39653|550633", + "text": "Spondylocostal dysostosis 4, autosomal recessive" + }, + { + "baseId": "39656|39657|142217|142218|142219|142220|142221|210890|287089|287090|287092|287098|287831|287833|287835|290246|290270|290289|290292|290650|290654|290655|290656|290659|406004|481431|481432|518651|650821|792731|885381|885382|885383|885384|885385|885386|885387|922899", + "text": "Multiple mitochondrial dysfunctions syndrome 1" + }, + { + "baseId": "39660|39661|177355|246965|251473|251474|251475|251476|251477|251478|251479|251480|251484|271921|293387|293391|293392|293399|293401|293402|293403|293407|293411|293413|294760|294761|294762|294789|294794|294795|294796|294799|298350|298351|298360|298363|298384|298399|298413|298420|298421|298423|298424|298427|298430|298431|298432|298433|298434|298437|298475|406435|428297|453405|453413|609539|698513|709360|781951|795582|799353|890632|890633|890634|890635|890636|890637|890638|890639|890640|890641|890642|890643|890644|890645|890646|890647|890648|890649|890650|890651|890652|890653|891790|891791|891792|918892|920203", + "text": "Cranioectodermal dysplasia 4" + }, + { + "baseId": "39660|39660|132652|132653|132655|132656|132656|132656|132657|132657|177355|187261|187262|192783|246965|251476|251477|251478|251479|251480|251482|251484|260901|264179|270911|270914|270916|271921|293387|293399|294789|294794|294797|298351|298359|298399|298421|298427|298431|298432|406435|428297|434039|440088|440088|440089|453405|453413|453414|453420|453529|519919|520178|549469|553585|559832|609538|609541|620163|632194|632195|632196|632197|679660|698513|698514|698515|698516|709360|730288|730289|734629|748938|759518|764459|775076|777509|781951|795582|799353|829124|829125|829126|829127|829128|829129|829130|829131|829132|829133|829134|829135|829136|829137|829138|829139|829140|829141|829142|851122|851502|851604|890634|890635|890649|891790|923506|932317|932318|932319|932320|932321|932322|932323|932324|932325|932326|932327|932328|939966|943978|943979|943980|943981|943982|943983|943984|943985|943986|943987|943988|943989|943990|943991|943992|953769|953770|953771|953772|953773|953774|953775|959725|960538|962702", + "text": "Senior-Loken syndrome 8" + }, + { + "baseId": "39660|39660|39662|132656|132657|177355|177355|192783|246965|246965|251473|251474|251475|251476|251476|251477|251477|251478|251478|251479|251479|251480|251480|251482|251484|251484|264179|270911|270914|270916|271921|271921|293387|293387|293391|293392|293399|293399|293401|293402|293403|293407|293411|293413|294760|294761|294762|294789|294789|294794|294794|294795|294796|294797|294799|298350|298351|298351|298359|298360|298363|298384|298399|298399|298413|298420|298421|298421|298423|298424|298427|298427|298430|298431|298431|298432|298432|298433|298434|298437|298475|406435|406435|428297|428297|434039|440088|440089|453405|453405|453413|453413|453414|453420|453529|519919|520178|549469|553585|559832|609538|609539|609541|632194|632195|632196|632197|679660|698513|698513|698514|698515|698516|709360|709360|730288|730289|734629|748938|759518|764459|775076|777509|781951|781951|790470|790471|790472|795582|795582|799353|799353|829124|829125|829126|829127|829128|829129|829130|829131|829132|829133|829134|829135|829136|829137|829138|829139|829140|829141|829142|851122|851502|851604|890632|890633|890634|890634|890635|890635|890636|890637|890638|890639|890640|890641|890642|890643|890644|890645|890646|890647|890648|890649|890649|890650|890651|890652|890653|891790|891790|891791|891792|923506|932317|932318|932319|932320|932321|932322|932323|932324|932325|932326|932327|932328|939966|943978|943979|943980|943981|943982|943983|943984|943985|943986|943987|943988|943989|943990|943991|943992|953769|953770|953771|953772|953773|953774|953775|959725|960538", + "text": "Asphyxiating thoracic dystrophy 5" + }, + { + "baseId": "39663|39664|132653|132654|132655|132656|440088|613995|906240|962700|962701", + "text": "Nephronophthisis 13" + }, + { + "baseId": "39665|190173|190174|590649|590650", + "text": "46,XX sex reversal 2" + }, + { + "baseId": "39666|39666|195021|268151|280332|282024|447763|491179|515893|557285|557287|627740|627741|732350|732351|746394|746395|761844|761845|761847|761848|761849|780663|780665|788736|823865|823866|823867|823868|864265|918628|930460|930461|930462|940630|941910|941911|952383|952384|952385|952386|977534", + "text": "Retinitis pigmentosa 59" + }, + { + "baseId": "39666|442804|481158|798469", + "text": "Developmental delay and seizures with or without movement abnormalities" + }, + { + "baseId": "39667|39668|39669|39670|39671|39672|190540|265794|266619|267431|268766|272464|464536|464788|464792|464793|512114|528584|539056|585538|588796|642984|642985|642986|642987|714311|714312|714313|714314|714315|714316|714317|927252|927253|927254|948779|957366|957367", + "text": "Temtamy preaxial brachydactyly syndrome" + }, + { + "baseId": "39673", + "text": "Inflammatory bowel disease 19" + }, + { + "baseId": "39674", + "text": "Psychomotor retardation, epilepsy, and craniofacial dysmorphism" + }, + { + "baseId": "39676", + "text": "Hypotrichosis 3" + }, + { + "baseId": "39677|134297|134298|134299|134300|140727|194135|199988|199990|199993|206940|237339|250535|250541|265568|284537|284542|284559|285223|285225|285239|285240|287384|287386|287393|287394|287416|287418|287420|287646|450317|450597|541822|541824|541833|541877|557834|560817|655413|655415|686141|691025|691026|707996|719576|719577|743846|743850|747240|759194|762852|762855|762856|781139|825645|825650|977662|977663|977664|977665|977666|977667|977668|977669|977670|977671|977672|977673|977674|977675", + "text": "Carbamoyl-phosphate synthase I deficiency" + }, + { + "baseId": "39683|39684|39685|418799|553307|553308|553309|553310|553311|590445", + "text": "Microphthalmia with limb anomalies" + }, + { + "baseId": "39689|134611|790599", + "text": "Progressive myoclonic epilepsy, X-linked" + }, + { + "baseId": "39689|39690|135477|135478|135584|195065|195792|196090|196091|205736|266036|271784|292676|426664|440828|440830|440831|452753|452754|452757|453115|453116|453118|453130|453456|453465|453483|519654|519656|519657|519661|519858|519859|519861|519882|559134|559666|559668|559670|561795|561799|563290|563297|631768|631769|631770|631771|631772|631773|631774|631775|631776|631777|631778|691479|709013|720621|734268|734269|748500|764140|764143|777390|781795|793041|828532|828533|828534|828535|828536|828537|828538|828539|828540|828541|828542|828543|828544|828545|828546|828547|889600|923336|923337|923338|923339|923340|923341|923342|923343|932076|932077|932078|932079|932080|943692|943693|943694|943695|943696|943697|943698|953583|953584|953585|953586", + "text": "Epilepsy, progressive myoclonic 5" + }, + { + "baseId": "39696|344030|344036|578569|622469|805033|805034|882364|919885|919886|919887|919888|919889|919890|919891|961349", + "text": "Peripheral neuropathy, myopathy, hoarseness, and hearing loss" + }, + { + "baseId": "39697", + "text": "SCOTT SYNDROME" + }, + { + "baseId": "39698|362439|789787|800380", + "text": "Ovarian dysgenesis 3" + }, + { + "baseId": "39699|39700|39701|39702|39703|302860|302862|302866|302868|302872|302874|302877|302881|302883|302889|302890|302897|302901|302902|302907|302908|302915|302917|302927|302932|302936|302937|306199|306200|306201|306202|306210|306219|306221|306224|306225|306226|306230|306232|306233|306235|306236|306242|306243|306244|306249|310938|310939|310948|310953|310956|310968|310970|310972|310974|310977|310980|310982|310984|311186|311187|311188|311190|311194|311195|311197|311198|311199|311200|311214|311215|311216|311236|311238|311241|311242|369441|389799|550165|578458|620262|700040|710978|898028|898029|898030|898031|898032|898033|898034|898035|898036|898037|898038|898039|898040|898041|898042|898043|898044|898045|898046|898047|898048|898049|898050|898051|898052|898053|898054|898055|898056|898057|898058|898059|898060|898061|898062|900359|900360", + "text": "Diaphanospondylodysostosis" + }, + { + "baseId": "39704|39705|39706|39707|101649|101650|190887|254031|254032|254033|254034|254035|254036|254037|254039|254043|254044|254045|254046|254047|254049|254052|254053|254056|313128|313133|313135|313137|313141|313143|313146|313150|313160|313163|313164|313167|313168|313172|313178|313179|313182|313183|313184|313193|313194|313195|319179|319184|319185|319186|319188|319189|319198|319205|319212|319214|319243|319253|319259|319262|319263|319265|319266|319271|319272|319273|319279|319280|319288|319289|319294|319313|319316|319317|319321|319322|319329|319330|319333|319334|325328|325329|325340|325350|325356|325359|325385|325392|325402|325403|325406|325411|325417|325418|325420|325422|325435|325436|325440|325441|325451|325452|325458|325462|325463|325471|325472|325476|326193|326213|326221|326230|326231|326234|326239|326240|326250|326254|326260|326261|326262|326330|326332|326336|326337|326342|326343|326353|326367|326371|326385|326393|326397|326398|326400|326402|326403|326404|326409|326411|408301|525984|526130|526482|620392|639817|687719|692953|692955|692956|692958|692960|695498|701650|701651|737844|752525|783907|801875|838106|838107|838108|867477|867478|867479|867480|867481|867482|867483|867484|867485|867486|867487|867488|867489|867490|867491|867492|867493|867494|867495|867496|867497|867498|867499|867500|867501|867502|867503|867504|867505|867506|867507|867508|867509|867510|867511|867512|867513|867514|867515|867516|867517|867518|867519|867520|867521|867522|867523|867524|867525|867526|867527|867528|867529|867530|867531|867532|867533|867534|867535|868616|868617|868618|919335|919336|919337|919338|926152|956425", + "text": "Holoprosencephaly 11" + }, + { + "baseId": "39710|39711|39712|39713|39714|39715|176585|497313|609025|615828", + "text": "Deafness, autosomal recessive 15" + }, + { + "baseId": "39719|39720|39721|39722|39724|191603|191843|192154|193798|195033|215396|215773|253486|253487|253488|253489|253490|253491|253492|253493|253494|253495|253496|253497|253498|265787|269506|270661|270789|273529|273864|307776|307777|307778|307780|307784|307785|307789|307791|307792|307794|307796|307797|307802|307803|307804|307811|307813|307815|307816|307817|307818|307822|307825|307828|307829|307831|307833|307834|307835|307836|307840|307841|307846|307856|307857|307859|307866|307868|307872|307875|312015|312016|312017|312028|312029|312034|312050|312051|312052|312062|312064|312071|312073|312100|312105|312106|312107|312108|312109|312122|312123|312141|312142|312147|312148|312154|312163|312164|312165|317697|317702|317705|317706|317717|317719|317723|317732|317736|317738|317740|317741|317742|317746|317750|317760|317771|317772|317775|317777|317781|317782|317784|317785|317786|317787|317789|317790|317800|317812|317813|317815|317824|317825|317830|317834|317838|317841|317843|317845|317846|317847|318175|318188|318193|318196|318200|318203|318205|318209|318225|318228|318253|318255|318265|318266|318270|318272|318275|318279|318281|318290|318291|318292|318293|318299|318302|318303|318313|318317|318323|318337|318345|318348|318350|318352|413788|489126|619923|700935|711907|723507|723509|723512|737074|737075|737079|737082|744368|751630|783387|783389|901596|901597|901598|901599|901600|901601|901602|901603|901604|901605|901606|901607|901608|901609|901610|901611|901612|901613|901614|901615|901616|901617|901618|901619|901620|901621|901622|901623|901624|901625|901626|901627|901628|901629|901630|901631|901632|901633|901634|901635|901636|901637|901638|901639|901640|901641|901642|901643|901644|901645|901646|901647|901648|901649|901650|901651|901652|901653|901654|901655|901656|901657|901658|901659|901660|901661|901662|901663|901664|901665|901666|901667|901668|901669|901670|901671|901672|901673|901674|901675|901676|901677|903359|903360|903361|903362|903363|903364|903365|903366|903367|903368|903369", + "text": "Oculotrichoanal syndrome" + }, + { + "baseId": "39723|39724|413788|539021|624854", + "text": "Trigonocephaly 2" + }, + { + "baseId": "39724|136471|136486|223621|223643|223651|263398|485734", + "text": "Rieger syndrome" + }, + { + "baseId": "39725|39726|39727|39728|39729|39730|335393|335394|335400|335405|335406|335408|335416|335418|335423|335431|335435|335446|345219|345221|345223|345225|345230|345231|345232|345233|345234|345236|345237|345240|345246|345247|345248|345249|345252|345253|345255|349954|349955|349960|349961|349963|349964|349967|349970|349973|349975|349978|350969|350970|350972|350974|350976|350979|350980|350984|791983|798765|802231|886087|886088|886089|886090|886091|886092|886093|886094|886095|886096|886097|886098|886099|886100|886101|886102|886103|886104|886105|886106|886107|886108|886109|886110", + "text": "Multicentric carpo-tarsal osteolysis with or without nephropathy" + }, + { + "baseId": "39731", + "text": "Body mass index quantitative trait locus 10" + }, + { + "baseId": "39739|106652|106653|106654|106655|135519|135520|135521|135521|135523|135523|135524|135524|135525|135526|205130|206757|206757|206758|206758|206761|206762|206762|237363|237363|270346|271432|271432|271433|279279|279280|279285|279300|279308|279309|279310|279311|279318|279318|279324|279324|279325|279329|279329|279330|279490|279496|279497|279498|279502|279506|279507|279508|279508|279512|279512|279536|279545|279545|279549|280797|280798|280805|280809|280810|280822|280823|280825|280825|280830|280835|280837|280839|280846|280847|280850|280851|280855|280863|280872|280876|280877|280887|280887|280897|280909|280913|280924|280924|280939|280940|280956|280957|364904|364905|425336|427709|427712|447500|447631|447634|447736|447738|447738|447743|447746|498243|515542|515555|556790|557153|558347|558347|627378|627379|627380|650679|690489|690489|690490|696474|696475|696475|696477|777096|780569|801776|823482|823483|823484|863719|863720|863721|863722|863723|863724|863725|863726|863727|863728|863729|863730|863731|863732|863733|863734|863735|863736|863737|863738|863739|863740|863741|863742|863743|863744|863745|863746|863747|863748|863749|863750|863751|863752|863753|863754|863755|863756|863757|863758|863759|865128|865129|865130|921848|930328|930329|940619|941768|941769|941770", + "text": "Warburg micro syndrome 2" + }, + { + "baseId": "39742|39743|204984|208454|430064|469373|469783|532238|532440|574759|647284|647285|715990|776619|846896|846897|846898|846899|928719|928720|928721|938451|938452|940458|950534|950535|958472|958473", + "text": "Microcephaly, epilepsy, and diabetes syndrome" + }, + { + "baseId": "39744|39745|39746|45283|45287|142040|142041|142043|142044|142045|142050|142056|142057|142059|142063|142133|142134|142135|169185|169187|169188|169191|169192|169192|169194|190107|197845|197869|197871|197875|197877|197879|208245|208245|255476|267763|271568|271568|272268|324357|324358|324368|324372|324381|324385|324391|324429|324435|324455|324464|333894|333896|333906|333918|333920|333921|333964|333965|333966|333969|333978|333980|333982|333983|333984|333987|340665|340672|340673|340679|340680|340683|340685|340687|340692|340721|340724|340727|340730|340731|342053|342059|342063|342072|342073|342074|342081|342085|342098|342107|342108|342116|342135|342137|342138|342139|342140|342151|342155|342156|342159|342160|342164|342168|373941|429772|429774|429774|614127|620536|788894|874751|874752|874753|874754|874755|874757|874758|874759|874760|874771|874773|874774|874775|874776|874777|874778|874779|874780|874781|874782|874783|874784|874785|874786|874787|874788|874789|876626", + "text": "Lissencephaly 4" + }, + { + "baseId": "39747", + "text": "Amyloidosis, primary localized cutaneous, 2" + }, + { + "baseId": "39748|191078|194482|265506|268417|270851|305785|309776|309787|315028|315031|315179|315180|380289|407449|426674|428861|438397|438397|457948|457951|458520|458526|458595|458993|458997|523697|524006|524009|524009|524015|524280|524288|563056|568068|568083|568086|588769|637372|637373|637374|637375|637376|637377|637378|637379|637380|637381|637382|637383|700637|723173|766887|819978|819979|819980|819981|835022|835023|835024|835025|851700|852154|925254|925255|925256|925257|934412|934413|934414|934415|946172|946173|946174|955495|955496|955497|955498|959901", + "text": "Febrile seizures, familial, 11" + }, + { + "baseId": "39748|88281|134293|134294|134295|189029|194482|265506|268417|270851|305779|305785|305787|309773|309775|309776|309787|309796|309797|309802|315026|315028|315031|315032|315156|315169|315179|315180|315183|315184|380289|380290|430963|438397|438397|458595|524009|524280|637382|700636|899964|899965|899966|899967|899968|899969|899970|899971|899972|899973|899974|899975|900512", + "text": "Epilepsy, familial temporal lobe, 5" + }, + { + "baseId": "39753|39754|39755|496287|496724|553254|553255|615788|683136", + "text": "Deafness, autosomal recessive 42" + }, + { + "baseId": "39760|99438|168891|168893|168894|168895|168897|181433|194340|195924|207936|223671|254410|316026|316027|316028|316032|323289|323290|323292|323293|329378|330555|330564|359929|461608|620428|622897|622898|656105|684285|818295|869272|869273|869274|869275|869276|869277|869278|869279|869280|869281|869282", + "text": "Joubert syndrome 13" + }, + { + "baseId": "39764|153815|153816|153817|237630", + "text": "Persistent hyperplastic primary vitreous, autosomal recessive" + }, + { + "baseId": "39766|172105|172106|172107|172108|172109|208802|430568|430587|486777|508942|508943|508944|508945|512971|512972|622485|681833|681834|792083|799021|939350|966020|966021|966022|980972", + "text": "Microcephaly and chorioretinopathy, autosomal recessive, 1" + }, + { + "baseId": "39767", + "text": "Mental retardation, autosomal recessive 14" + }, + { + "baseId": "39768|39769|39770|39771|39772|200982|227298|300242|300247|300248|302996|302997|302998|302999|303004|303005|307453|307456|307459|307682|362145|538997|622977|622979|622982|622986|735682|765702|896359|896360|896361|896362|896363|896364|896365|896366|896367|896368|896369|896370", + "text": "Treacher Collins syndrome 3" + }, + { + "baseId": "39768|39772|200977|200978|200979|200980|200981|200982|207417|227298|264263|264293|269895|307675|362145|362145|362146|513282|538997|622974|622975|622976|622977|622978|622979|622980|622981|622982|622982|622983|622984|622985|622986|622987|622988", + "text": "Leukodystrophy, hypomyelinating, 11" + }, + { + "baseId": "39773|176085|222386|230536|241874|241875|255045|330332|399596|399716|400252|400253|463472|464471|528712|566608|642675|642676|642677|642678|652421|652875|730950|936705|940312", + "text": "Ciliary dyskinesia, primary, 16" + }, + { + "baseId": "39779|172136|227466|538358|623274", + "text": "Myopia, high, with cataract and vitreoretinal degeneration" + }, + { + "baseId": "39780|39781|39782|39784|39785|39786|39787|39788|140021|140022|205750|205751|211298|211299|211299|211306|211307|211307|211309|211313|211313|302005|302006|302009|302013|302014|302016|302021|302022|305180|305185|305194|305195|305198|305202|305203|305204|309887|309889|309890|309893|309893|309896|309896|309901|309916|309916|309917|309918|309923|309924|309925|309926|309929|309931|309936|309948|309964|309970|310017|310025|368952|369244|369512|456416|457000|481332|481333|501886|514551|522605|608809|635793|692166|692166|695352|722363|788812|792767|861593|897558|897559|897560|897561|897562|897563|897564|897565|897566|897567|897568|897569|897570|897571|897572|897573|897574|897575|897576|897577|897578|897579|900320|900321|924716|975666|975667", + "text": "Sengers syndrome" + }, + { + "baseId": "39792|39793|39794|98153|98154|246951|513539|513540|918847|918848|961767", + "text": "D-Glyceric aciduria" + }, + { + "baseId": "39795|39796|39797|39799|39801|134154|237292|252622|269511|301846|301867|301869|301878|301888|301889|301891|301900|301903|301908|301912|301913|301919|301922|301926|301927|301928|301933|301934|301935|301936|301944|305030|305033|305034|305037|305038|305049|305053|305054|305055|309684|309692|309694|309695|309696|309699|309700|309701|309708|309711|309720|309721|309731|309740|309846|309850|309851|309852|309856|309859|309860|309861|309862|309863|309864|309865|309871|368934|370844|425732|456415|502216|523062|566495|582788|620250|620251|635786|679755|692159|750428|779424|782794|833143|833144|833145|833146|833147|833148|852068|897422|897423|897424|897425|897426|897427|897428|897429|897430|897431|897432|897433|897434|897435|897436|897437|897438|897439|897440|897441|897442|897443|897444|897445|897446|897447|897448|897449|897450|897451|897452|897453|897454|897455|897456|897457|897458|897459|897460|897461|897462|897463|897464|897465|897466|897467|897468|897469|897470|897471|897472|897473|897474|897475|897476|897477|897478|900313|924704|924705|933690|933691|933692|933693|945431|945432|945433|945434|945435|945436|945437|945438|945439|955061|959836|959837", + "text": "Joubert syndrome 15" + }, + { + "baseId": "39798|39858", + "text": "Joubert syndrome 12/15, digenic" + }, + { + "baseId": "39799|237292|301935|301936|970299|970300|970301|970302", + "text": "Familial Autism Spectrum Disorder" + }, + { + "baseId": "39806", + "text": "N-acetylaspartate deficiency" + }, + { + "baseId": "39814|39815|195743|490784|514230|626133|918792", + "text": "Adams-Oliver syndrome 1" + }, + { + "baseId": "39816|39817|49853|165508|200697|205258|231715|231716|231717|231719|240443|240444|240445|240446|244017|244538|244539|244541|244542|244543|263456|272799|306822|306826|306829|306833|306840|310978|310981|310983|310994|310995|310996|311000|311002|311003|311005|311010|316571|316589|316590|316591|316598|316601|316602|316603|316608|316611|316612|316613|316614|316621|316624|316850|316861|316870|316871|316894|316898|369704|369710|369722|370196|370463|372107|372108|396391|396393|396675|396677|396678|396760|396797|396801|396811|396813|397024|397029|407530|444345|444346|458208|458210|458214|458215|458216|458217|458747|458750|458756|458757|458760|458829|458831|458836|458838|459250|459254|459260|459264|502116|502592|502875|511782|523906|523911|523921|523927|523936|523937|524209|524214|524219|524220|524226|524473|524474|524476|524479|524481|524532|524534|524535|524538|524542|524544|524548|524551|524556|524558|524561|562703|562705|562706|562708|562710|562712|562717|563390|563394|563404|565440|565445|565446|565448|565453|565454|565459|565467|565473|565478|565480|565484|568433|568447|568450|568461|568465|576252|590030|637647|637648|637649|637650|637651|637652|637653|637654|637655|637656|637657|637658|637659|637660|637661|637662|637663|637664|637665|637666|637667|637668|637669|637670|637671|637672|651817|651893|651898|652096|655882|683023|684039|684040|684041|687354|687355|687357|687359|687360|687361|692572|695412|711763|767096|767098|767099|775473|783264|783265|783266|787775|790833|796215|799563|820047|820048|820049|835436|835437|835438|835439|835440|835441|835442|835443|835444|835445|835446|835447|835448|835449|835450|835451|835452|835453|835454|835455|835456|852469|852470|852475|901083|901084|901085|901086|901087|901088|901089|901090|901091|901092|901093|901094|901095|901096|901097|901098|903314|903315|903316|919184|920261|925349|925350|925351|925352|925353|925354|925355|925356|925357|925358|925359|925360|925361|934529|934530|934531|934532|934533|940922|946341|946342|946343|946344|946345|946346|946347|955676|955677|959908", + "text": "Charcot-Marie-Tooth disease type 2P" + }, + { + "baseId": "39818|135979|206755", + "text": "Spinocerebellar ataxia, autosomal recessive 11" + }, + { + "baseId": "39836|44147|44148|44149|44150|44151|143267|143268|143269|578552|861163", + "text": "Amelogenesis imperfecta type 1G" + }, + { + "baseId": "39842|39843|39844|39845|39846|46862|46965|46966|46967|46968|46969|279258|279262|279263|279268|279270|279277|279477|279483|279485|280782|280783|280787|280788|280789|280791|280793|280794|280820|280821|280831|280832|280833|280834|280838|280841|280843|362420|362421|362422|362423|863702|863703|863704|863705|863706|863707|863708|863709|863710|863711|863712|863713|863714|863715|863716|863717|863718|865127", + "text": "Hypermanganesemia with dystonia 1" + }, + { + "baseId": "39847|39848|39849|205298|205782|208317|214453|214544|225887|243899|244063|245211|260139|260140|260852|264747|264749|264823|264834|264988|361224|362386|362427|362428|363822|363862|374759|375638|409796|409797|415528|422128|424663|424664|429885|429886|429890|434655|434772|438585|439224|439351|441931|441932|441933|445668|466885|466891|481321|482111|482112|492706|512246|512868|514705|530704|535707|536193|536480|536920|538460|538461|550370|550627|552191|552192|552193|552194|552196|552197|567551|568458|568459|569821|574206|574209|577580|577582|577583|577585|577586|577589|577595|577598|577599|577601|580058|580076|580078|580086|580112|580113|580133|580150|580155|580159|580165|580171|580174|580193|580197|580219|580220|580225|580232|580252|580259|580398|580400|580410|580421|580457|611404|611422|613052|621983|622437|645134|645135|645136|645137|645138|645139|645140|645141|645142|653892|654139|677454|678946|682827|682828|682829|682830|688676|688677|690150|693953|693955|693956|693958|693959|693960|693961|693962|693964|693965|693966|693968|693969|695708|695709|703898|703900|703901|703904|703905|703907|703909|703910|703914|703915|703917|703920|726943|731122|740510|740521|755550|755556|776216|785437|785439|798706|798707|798708|800673|805107|805904|805909|805916|816487|822122|822123|844491|844492|844493|844494|844495|844496|844497|858573|860317|919684|919685|919686|919687|919688|919689|919690|919691|928006|928007|928008|928009|937661|937662|949631|949632|949633|949634|949635|949636|949637|957922|957923|957924|960859|961626|961627|963812|963821|964458|964459|964460|964461|964462|967281|969771|969773|969863|969864|969865|969866|969867|969868|969869|969870|969871|969872|969873|969874|969876|969879|971058|972972|976668|980957", + "text": "KBG syndrome" + }, + { + "baseId": "39850|39851|140827|193688|203812|203814|203815|203817|203818|203819|336301|336304|336307|336310|336312|336318|336320|336322|336324|336325|336328|336329|336335|336336|336345|336348|336351|336357|336369|336371|336372|336378|336379|336383|346019|346027|346031|346032|346034|346035|346039|346045|346049|346051|346057|346063|346066|346068|346083|346085|346091|346092|346093|346098|346102|350384|350385|350388|350389|350392|350393|350396|350397|350400|350401|350404|350405|350407|350408|350413|350419|350420|350423|350424|350427|350428|350430|350431|351417|351418|351424|351425|351427|351430|351431|351434|351435|351438|351439|351442|351443|351446|351447|351450|351451|351454|351455|351457|351460|351461|351464|351465|351466|351467|351470|677069|886508|886509|886510|886511|886512|886513|886514|886515|886516|886517|886518|886519|886520|886521|886522|886523|886524|886525|886526|886527|886528|886529|886530|886531|886532|886533|886534|886535|886536|886537|886538|886539|886540|886541|886542|886543|886544|886545|886546|887483|887484|887485", + "text": "Neuronal ceroid lipofuscinosis 4B" + }, + { + "baseId": "39852|134861|267315|268160|270798|373810|445468|513354|513354|919601|919602", + "text": "Hydrolethalus syndrome 2" + }, + { + "baseId": "39852|39853|39854|39855|39856|102542|102544|102545|102546|102548|102549|102550|134850|134851|134852|134853|134854|134855|134856|134857|134858|134859|134860|134861|134862|134863|134864|141762|191111|191735|192158|192159|192160|192162|193763|195060|195061|205178|214348|214349|247107|255392|255399|255402|255403|255405|255406|255410|266613|267315|268160|268160|268262|268897|270531|270798|270798|271178|271632|271873|323529|323530|323534|323539|323540|323547|323548|323550|323552|323555|323559|323561|323566|333276|333280|333286|333288|333290|333293|340040|340042|340044|340049|340052|340053|340055|340058|340059|340062|341458|341460|341461|341463|341464|341467|341468|341471|341485|341488|341492|341500|341501|341502|360982|373810|417073|417074|418968|418969|418970|445468|464622|465404|465405|490888|505304|505511|513354|529134|529136|529144|529152|529156|529460|567339|567340|567345|569211|573582|578521|587931|587933|587935|620532|643620|643621|643622|643623|643624|643625|643626|643627|726331|785055|842797|842798|874268|874269|874270|874271|874272|874273|874274|874275|874276|874277|874278|874279|874280|874281|874282|874283|874284|874285|874286|874287|874288|874289|874290|874291|874292|874293|874294|874295|874296|874297|874298|874299|874300|874301|874302|874303|874304|874305|874306|874307|874308|876589|876590|876591|906265|927457|927458|937114|937115|949057|957538|957539|957540|971031", + "text": "Acrocallosal syndrome" + }, + { + "baseId": "39857|39858", + "text": "Joubert syndrome 12" + }, + { + "baseId": "39860|253624|253627|253628|253629|253630|253631|253632|309015|309024|309026|309027|309034|309035|309039|309041|313773|313775|313776|313777|313789|313791|313793|319587|319589|319598|319599|319601|319602|320178|320182|320183|320184|320186|320190|320191|414474|418978|418979|459962|459963|460369|524827|525060|701100|788838|836460|859771|902603|902604|902605|902606|902607|902608|902609|902610|902611|902612|902613|902614|902615|902616|902617|902618|902619|902620|902621|902622|902623|902624|902625|902626|902627|902628|902629|903450|903451|903452|903453|946740|946741|946742", + "text": "Cataract, autosomal recessive congenital 4" + }, + { + "baseId": "39861|39862|40202|40203|40204|227089|227090|227091|227092|229569|252658|252660|265509|266184|266559|266777|266778|267640|267980|269065|270280|270502|270682|270697|272428|272684|273113|273215|274406|274760|302296|302297|302299|302314|302318|302320|302323|302325|302328|302331|302334|305507|305508|305522|305526|305543|305551|305553|305555|310338|310339|310342|310348|310367|310369|310440|310446|310467|310468|310470|310473|310479|310480|310481|369415|371078|456511|456903|489480|491727|522506|522739|523163|523166|561425|561429|561432|566632|584394|585772|622886|635958|635959|635960|635961|635962|635963|635964|692189|692191|710895|736043|766198|790714|793208|818720|833385|833386|833387|833388|852343|897736|897737|897738|897739|897740|897742|897743|897744|897745|897746|897747|897748|897749|897750|897751|897752|897753|897754|897755|919096|924775|933799|933800|945540|945541|959844", + "text": "Limb-girdle muscular dystrophy, type 1E" + }, + { + "baseId": "39864|190006|190007|190008|222802|222803|243312|243314|243315|243316|403200|403206|403211|403250|403253|403661|403688|403694|403700|468536|468544|468546|468548|469089|469905|469907|469922|469924|470510|470521|487993|487994|487995|488044|508917|508918|510797|532763|532774|532830|532831|570278|570580|570583|570589|572286|572966|574902|574904|647785|647786|647787|647788|647789|647790|647791|647792|647793|647794|653156|653608|688973|688974|688977|694349|821243|847410|847411|847412|928891|938610|938611|938612|940476|950709|950710|950711|958566|958567", + "text": "Familial hypertrophic cardiomyopathy 19" + }, + { + "baseId": "39865|39866|39867|48498|153784|169195|169201|194444|227374|255679|255681|325059|325070|334737|341193|342699|342729|553393|609008|622910|677449|791582|919643|971045|971046|976664", + "text": "Floating-Harbor syndrome" + }, + { + "baseId": "39870|97545|428830", + "text": "Hereditary spastic paraplegia 18" + }, + { + "baseId": "39871|39872|39873|39874|39875|39876|39878|373928|426773|429180|626204|919331", + "text": "Megalencephalic leukoencephalopathy with subcortical cysts 2a" + }, + { + "baseId": "39876|39878|426773|429180|513438|626204", + "text": "Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation" + }, + { + "baseId": "39877", + "text": "Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with mental retardation" + }, + { + "baseId": "39883|39884|39885|167471|205154", + "text": "Hydatidiform mole, recurrent, 2" + }, + { + "baseId": "39886|792750", + "text": "Kahrizi syndrome" + }, + { + "baseId": "39888|257138|672017|800408", + "text": "Meckel syndrome, type 10" + }, + { + "baseId": "39892|39892|39893|39894|102031|102032|136094|136095|136096|136097|136098|136099|136100|136101|136102|136103|136104|136105|136106|136107|191595|191595|192692|192938|195418|212121|221116|221117|238377|250324|250329|250331|250336|250337|265473|282446|282447|282453|282454|282464|282465|282470|282471|282473|282474|282491|282492|283108|283111|283114|283117|283127|283133|283141|283158|283161|283162|284705|284706|284708|284714|284715|284722|284724|284726|284730|284731|284733|284745|284746|284755|284762|284765|284766|285173|285174|285177|285178|285180|285181|285182|285186|285187|285191|285192|365832|440055|449094|486832|498877|499070|516603|628800|683414|685891|685895|685896|690860|881322|881323|881324|881325|881326|881327|881328|881329|881330|881331|881332|881333|881334|881335|881336|881337|881338|881339|881340|881341|881342|881343|881344|881345|881346|881347|882822|882823|906279|980839", + "text": "Nephronophthisis 12" + }, + { + "baseId": "39892|39895|39896|102031|102032|136094|136095|136096|136097|136098|136099|136100|136101|136102|136103|136104|136105|136106|136107|191595|191595|192692|192938|195418|212121|221116|221117|238377|250324|250329|250331|250336|250337|265473|282446|282447|282453|282454|282464|282465|282470|282471|282473|282474|282491|282492|283108|283111|283114|283117|283127|283133|283141|283158|283161|283162|284705|284706|284708|284714|284715|284722|284724|284726|284730|284731|284733|284745|284746|284755|284762|284765|284766|285173|285174|285177|285178|285180|285181|285182|285186|285187|285191|285192|365832|440054|440055|449094|498877|499070|516603|536039|628800|683414|685891|685895|685896|690860|881322|881323|881324|881325|881326|881327|881328|881329|881330|881331|881332|881333|881334|881335|881336|881337|881338|881339|881340|881341|881342|881343|881344|881345|881346|881347|882822|882823", + "text": "Asphyxiating thoracic dystrophy 4" + }, + { + "baseId": "39897|39898|139916|139917|139918|139919|139920|139921|139923|139925|139927|139928|139931|139932|139933|139934|139935|152754|152756|199785|211222|211225|211227|211228|211232|211233|211238|211239|211242|236962|266174|300333|300334|300337|300352|300354|300361|300364|300368|300369|300380|300383|303153|303154|303155|303157|303161|303162|303163|303164|303176|303177|303180|303181|303217|307653|307665|307670|307684|307686|307688|307693|307695|307697|307699|307704|307710|307720|307725|307731|307732|307734|307823|307830|307832|307847|307848|307855|307858|307870|307877|307881|307882|307892|307896|307903|307906|370455|481329|502003|612277|620233|620790|620791|744284|798575|861605|896464|896465|896466|896467|896468|896469|896470|896471|896472|896473|896474|896475|896476|896477|896478|896479|896480|896481|896482|896483|896484|896485|896486|896487|896488|896489|896490|896491|896492|896493|896494|896495|896496|896497|900235|900236|919033|919034", + "text": "Combined oxidative phosphorylation deficiency 8" + }, + { + "baseId": "39897|152754", + "text": "Pulmonary hypoplasia" + }, + { + "baseId": "39909|39910|39911|39912|39913|134177|134178|134179|257714|257716|338604|338607|338609|338612|338617|338620|348178|348181|348182|348184|351843|351844|351846|351847|351849|351851|351853|351855|352686|352687|352688|352689|352690|377616|378767|378861|379872|379875|411043|411044|411046|442355|446429|470345|470346|470354|471601|471604|471986|534370|534844|538502|552235|572031|572036|572040|572044|573420|573424|574153|574156|574157|620697|622486|622487|626288|626289|649547|649548|649549|649550|649551|649552|649553|649554|653607|677067|694752|695884|695886|706020|773639|773641|821473|849452|849453|849454|849455|849456|849457|849458|849459|849460|852447|891510|891511|891512|891513|891857|891858|891859|891860|919960|929511|939365|951532|951533|959129|959130|959131|959132", + "text": "Megaconial type congenital muscular dystrophy" + }, + { + "baseId": "39917|39918|39919|39920|39921|39922|246971|251616|251618|251619|251621|251622|251623|251624|251625|251626|251627|251628|251629|251630|251631|251632|251634|251635|251636|251637|251638|295112|295116|295119|295124|295126|295127|295138|295140|295141|295142|295149|295150|295154|295155|295156|295161|295163|295164|295165|295172|295173|295180|295182|295192|295193|295196|295202|295204|296949|296950|296951|296952|296953|296963|296964|296965|296966|296967|296973|296986|296989|296990|296992|296999|297002|297003|297005|297006|300567|300568|300580|300611|300612|300615|300632|300633|300648|300654|300656|300657|300658|300667|300671|300673|300732|300736|300744|300745|300749|300753|300754|300755|300770|300772|300784|300785|300794|300796|300797|300798|300827|300831|300832|300833|300835|300836|300837|300839|300852|300853|300855|300856|361182|367859|367867|368122|368209|368210|368212|368229|368231|369509|369514|406612|406615|406617|421517|454199|454201|454205|454336|454340|454342|454351|454367|454686|454687|454690|454692|454694|454701|454986|454990|455000|501112|501116|501118|501255|501265|513275|520451|520452|520460|520468|520472|520475|520685|520688|520697|520699|520700|520873|520875|520876|520968|520969|520971|559985|559987|559989|559991|559993|559995|559997|559999|560100|560102|560104|560106|562591|564447|564451|564455|564456|632913|632914|632915|632916|632917|632918|632919|632920|632921|632922|632923|632924|632925|632926|632927|632928|632929|632930|632931|632932|632933|632934|632935|632936|632937|632938|632939|632940|632941|632942|632943|651272|691668|691669|698758|709604|721191|734825|749180|749183|759434|764780|775129|782116|795614|829896|829897|829898|829899|829900|829901|829902|829903|829904|829905|829906|829907|829908|829909|829910|829911|829912|829913|829914|829915|829916|829917|829918|829919|829920|829921|829922|829923|829924|829925|829926|829927|829928|829929|829930|892749|892750|892751|892752|892753|892754|892755|892756|892757|892758|892759|892760|892761|892762|892763|892764|892765|892766|892767|892768|892769|892770|892771|892772|892773|892774|892775|892776|892777|892778|892779|892780|892781|892782|892783|892784|892785|892786|892787|892788|892789|892790|892791|892792|892793|892794|892795|892796|892797|892798|892799|892800|892801|892802|892803|892804|892805|892806|892807|892808|892809|892810|892811|892812|892813|892814|892815|896023|896024|896025|923740|923741|923742|923743|923744|923745|923746|923747|932598|932599|932600|932601|932602|932603|932604|944273|944274|944275|944276|944277|944278|944279|944280|944281|953933|953934|953935|960546|960547", + "text": "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset" + }, + { + "baseId": "39922|39923|39924", + "text": "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant" + }, + { + "baseId": "39932|39933|49675|49676|227399|256465|256466|256467|256469|256470|256472|330255|330258|330265|330270|340470|346186|346187|346188|346191|346192|346193|347496|347502|347503|347504|347505|347506|353464|353465|610686|614445|620610|626262|741061|756161|756165|878650|878651|878652|878653|878654|878655|878656|878657|878658|878659|880607|880608|880609|961978|961979", + "text": "Dyskeratosis congenita, autosomal recessive, 3" + }, + { + "baseId": "39938|185674|185675|185676|964237", + "text": "Adermatoglyphia" + }, + { + "baseId": "39938|185677", + "text": "Basan syndrome" + }, + { + "baseId": "39939|142661|142663|142664|211878|211880|211881|211882|211884|211885|243995|333468|333469|333470|333476|333477|333479|343501|343507|343512|343513|343520|348832|348833|348834|348836|348837|348838|348839|349792|349794|349796|349801|349802|349805|349812|426310|506729|550087|656559|881939|881940|881941|881942|881943|881944|881945|881946|881947|881948|881949|881950|881951|881952|881953|881954|881955|881956|881957|881958|881959|881960|882881|966903", + "text": "Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis" + }, + { + "baseId": "39940|53289|195622|535663|535664|535665|535666|535667|535668|535670|535671|857673|857674|904068|919249|946767|980585", + "text": "Deafness, autosomal recessive 57" + }, + { + "baseId": "39942|39943|39944|39945|39946|48067|48068|272982|344968|345036|349823|349827|349831|350853|415680|425230|481326|481339|539097|552222|578573|589812|621639|621640|653897|679354|682834|791976|791977|798762|858750|964530|971142", + "text": "Bohring-Opitz syndrome" + }, + { + "baseId": "39943", + "text": "dystrophia" + }, + { + "baseId": "39952|39953|39954|39955|39956|39957|39958|39959|39960|39961|39962|48734|48735|208426|403099|403203|430041|469210|469548|469555|469574|532116|532462|553396|571808|619927|647035|647048|791846|791847|961980|980850|980851|980852", + "text": "Cerebroretinal microangiopathy with calcifications and cysts 1" + }, + { + "baseId": "39957|48734|430035", + "text": "Cerebroretinal microangiopathy with calcifications and cysts" + }, + { + "baseId": "39964", + "text": "EDICT syndrome" + }, + { + "baseId": "39975|434881|539076", + "text": "Epiphyseal dysplasia, multiple, 7" + }, + { + "baseId": "39977|210904|226292|287256|287947|287948|287950|290538|290556|290565|366784|804904|805142|885458|885459|885460", + "text": "Multiple mitochondrial dysfunctions syndrome 2" + }, + { + "baseId": "39978|39979|39980|39981|39982|39983|186225|208254|208255|208257|213187|213188|213191|236954|236960|242400|242402|242403|242405|242406|242407|242408|242409|242410|242411|242415|242417|242418|242420|242421|242422|242424|242426|242427|242430|242432|242433|242435|242436|255707|255708|255709|255711|255712|255713|255714|255715|255716|255717|255718|255719|255722|255724|255725|255727|255728|255729|255730|255731|255732|255733|255734|255735|255736|325256|325266|325275|325280|325281|325283|325299|325301|325303|325312|325313|325315|325330|325332|334909|334911|334912|334914|334915|334916|334920|334921|334928|334930|334937|334940|334947|334950|334951|334957|334959|341359|341361|341362|341365|341370|341380|341389|341391|341392|341398|341400|341410|341415|341416|341418|341426|341428|341429|341430|341432|341433|341438|341444|341445|341450|342868|342874|342875|342876|342877|342888|342891|342896|342897|342899|342906|342910|342917|342920|342923|342927|342931|342932|342934|342939|342940|342944|342945|342946|342947|342950|401138|401151|401159|401170|401173|401176|401177|401199|401203|401240|401632|401652|401654|401676|401679|401894|401905|401911|409623|429791|429792|429793|429794|465680|465686|465722|465727|466381|466421|466427|466442|466462|466652|466653|466698|466702|529942|529977|530056|530072|530076|530266|530517|552189|568130|570280|612163|614424|614425|620540|620541|682684|688571|690140|693865|797319|816338|843808|843830|843838|843844|843846|843849|843855|843859|875217|875218|875219|875220|875221|875222|875223|875224|875225|875226|875227|875228|875229|875230|875231|875232|875233|875234|875235|875236|875237|875238|875239|875240|875241|875242|875243|875244|875245|875246|875247|875248|875249|875250|875251|875252|875253|875254|875255|875256|875257|875258|876664|876665|876666|876667|917931|917934|917938|919647|921524", + "text": "Fanconi anemia, complementation group P" + }, + { + "baseId": "39994", + "text": "Primary microcephaly type 2" + }, + { + "baseId": "40000|40001|40002|76527|99368|99368|177078|178154|178155|178155|192629|192629|192964|192964|195918|195918|206935|206935|206937|250472|265346|265346|268034|268034|270910|271977|272560|272806|272806|273025|283724|283727|283728|283734|283736|283737|283738|283749|283751|283752|283757|283759|283764|283770|283771|283776|283778|283779|283780|283785|283796|283796|283799|283799|283805|283805|283810|283820|283823|283824|283829|283830|284401|284404|284407|284414|284419|284430|284431|284432|284437|284437|284438|284448|284457|284458|284459|284461|284463|284463|284471|284471|286403|286415|286416|286421|286422|286439|286446|286447|286448|286450|286451|286452|286470|286472|286472|286474|286475|286476|286478|286481|286484|286484|286777|286778|286779|286781|286786|286793|286794|286810|286816|286828|286841|286842|286855|286857|286857|286858|286865|286866|286876|286878|286881|286881|427983|427983|434042|434042|434044|434045|440064|450229|450242|450242|450249|450362|450490|481531|488635|488637|490556|517497|557806|557810|557857|559023|559522|559525|609305|609306|629268|629274|629274|629275|697232|697236|719510|730096|747156|762776|825542|825545|825548|825553|883131|883132|883133|883134|883135|883136|883137|883138|883139|883140|883141|883142|883143|883144|883145|883146|883147|883148|883149|883150|883151|883152|883153|883154|883155|883156|883157|883158|883159|883160|883161|883162|883163|883164|883165|883166|883167|883168|883169|883170|883171|883172|883173|883174|883175|883176|883177|883178|887229|887230|887231|887232|922506|931069|952874|959619", + "text": "Short rib polydactyly syndrome 5" + }, + { + "baseId": "40003|40004|153785|153786|188068|508939|508940|512883|792020|980970", + "text": "Van den Ende-Gupta syndrome" + }, + { + "baseId": "40006|40007|40008|40009|40010|40011|166231", + "text": "Treacher Collins syndrome 2" + }, + { + "baseId": "40012|40013|553269", + "text": "Deafness, autosomal recessive 74" + }, + { + "baseId": "40014|40015|40016|40017|133835|133836|133837|171737|171738|171739|207076|207077|251139|290298|290299|290309|290315|290317|290321|290324|290328|290343|290367|291143|291144|291170|291180|291181|291183|291184|291185|291194|291241|294449|294450|294457|294459|294460|294463|294470|294492|294832|294833|294850|294862|294866|294868|294876|294877|294884|294886|294937|294940|428190|428192|440792|653860|734068|748270|798534|888890|888891|888892|888893|888894|888895|888896|888897|888898|888899|888900|888901|888902|888903|888904|888905|888906|888907|888908|888929|891642|891643|891644|918831|964816", + "text": "Spinocerebellar ataxia, autosomal recessive 10" + }, + { + "baseId": "40018|40019|40020|134751|134752|134753|134754|134755|134756|134757|134758|255321|255322|255323|255324|255325|255329|255330|323055|323056|323063|323065|323066|323067|323072|323076|323077|332658|332661|332665|332666|332668|332669|332684|332687|332689|332692|339671|339674|339675|339680|339685|339692|341029|341034|341041|341042|341051|341054|341055|341058|341061|341062|341063|341064|341065|341068|341069|374263|374659|374672|409320|429713|445402|464417|464418|464425|465024|465026|465036|465040|465047|465215|465218|465222|465224|465225|465237|465239|465287|465289|465298|465303|465308|465310|491142|504911|505119|505331|513348|528961|528965|528979|528986|528988|529078|529084|529086|529088|529394|529396|529400|529557|529559|529566|529569|550779|567218|567220|569039|569040|569545|569546|569548|569549|569556|569557|573459|573461|573466|573470|573473|573474|573478|643459|643460|643461|643462|643463|643464|643465|643466|643467|643468|643469|643470|643471|643472|643473|643474|693712|693713|693717|693718|693719|703293|726207|739746|754629|770289|784985|784987|822100|842577|842578|842579|842580|842581|842582|842583|842584|842585|842586|842587|842588|873965|873966|873967|873968|873969|873970|873971|873972|873973|873974|873975|873976|873977|873978|873979|905864|919589|919590|927391|927392|927393|927394|927395|927396|937004|937005|937006|937007|937008|948959|948960|948961|948962|948963|948964|957466|957467|957468", + "text": "Nemaline myopathy 6" + }, + { + "baseId": "40021|48299|48300|206591|206592|206593|206594|206595|206596|206597|206598|206599|206600|404722|404723|404724|404725|404726|404727|404728|404729|404730|404731|404732|404733|404734|404735|404736|404737|404738|404739|404740|404741|404742|576249|576250|615848|624866|791843|800076|858575", + "text": "Moyamoya disease 2" + }, + { + "baseId": "40024|40025|76858|76902|76906|173761|173762|173763|173764|173902|173903|173904|177350|192069|221373|221374|221375|229033|229034|229037|229038|239119|239121|239122|239125|251017|251018|251022|251028|251031|251032|251035|289566|289567|289570|289571|289577|289579|289591|289593|289595|289596|290329|290332|290335|290338|290339|290342|290345|290348|293431|293441|293442|293445|293446|293867|293869|293871|293872|293875|293885|293890|293894|293896|293906|293921|293923|293927|293937|293954|293958|393446|406156|451975|451978|452209|452465|519198|519209|620122|654318|683569|686375|851283|857587|857602|888432|888433|888434|888435|888436|888437|888438|888439|888440|888441|888442|888443|888444|888445|888446|888447|888448|888449|888450|888451|888452|891622|891623|891624|943428|966791|983459", + "text": "Ciliary dyskinesia, primary, 14" + }, + { + "baseId": "40026|40027|40028|40029|76838|101777|150295|176025|176505|176506|176507|176508|176509|176510|176511|176512|176642|176643|176644|176645|176646|176647|176648|176649|177031|192684|194478|213408|213410|213412|213414|213415|213416|222746|230794|230796|230797|230798|230799|230800|230801|230802|230803|243000|243002|243003|243006|243009|243010|243014|256479|256485|256487|256497|256498|256499|256502|256504|256505|256509|256510|256513|272779|330388|330391|330392|330393|330399|330401|330403|330404|330406|330407|330412|330416|330417|330419|330420|330427|330429|330436|330437|340601|340602|340604|340612|340613|340614|340617|340622|340624|340627|340630|340632|346299|346303|347637|347638|347641|347645|347646|347650|347657|347661|347664|402584|402587|402628|403197|467613|468452|531891|531942|569832|572372|574658|620612|646846|646850|684722|791838|846361|878720|878721|878722|878723|878724|878725|878726|878727|878728|878729|878730|878731|878732|878733|878734|878735|878736|878737|878738|878739|878740|878741|878742|878743|880612|880613|880614|919775|919776|919777|919778|919779|980960", + "text": "Ciliary dyskinesia, primary, 15" + }, + { + "baseId": "40030|40031|108179|108180|108181|108182|141469|141470|141475|141476|211793|211794|211795|211798|327330|327345|327347|327351|327355|337150|337153|337164|337175|337188|343391|343393|343394|343395|343399|343400|343405|343408|343418|343422|344977|344980|344982|344989|344994|344995|344996|344998|345001|345002|345006|345011|345014|429927|430988|505786|505800|538464|861665|876821|876822|876823|876824|876825|876826|876827|876828|876829|876830|876831|876832|876833|876834|876835|876836|876837|876838|876839|876840|876841|876842|876843|876844|880465|880466|970416|970417", + "text": "Mitochondrial complex III deficiency, nuclear type 2" + }, + { + "baseId": "40033|131814|131815|131817|131818|131819|131820|131821|131823|131824|131826|131827|195422|195423|195754|207939|207940|207940|207941|214317|254446|254450|316256|316266|316267|316270|316272|316273|316274|323604|323608|323609|323618|323621|323623|323629|329742|329750|329751|329753|329759|329767|329768|329769|331021|331022|331024|331025|331028|331039|353213|684311|869457|869458|869459|869460|869461|869462|869463|869464|869465|869466|869467|869468|869469|869470|869471|869472|869473|869474|869475|869476|869477|869478|869479|872201|872202|872203|872204|906259|919418", + "text": "Meckel syndrome type 8" + }, + { + "baseId": "40033|620840", + "text": "TCTN2-Related Disorders" + }, + { + "baseId": "40034|40035|40036|40037|78958|152875|177134|177837|181302|181303|181304|181305|181306|181307|195757|254019|312776|312788|312808|318775|318789|318827|321281|321298|324884|324913|324926|324932|325706|325720|325762|325768|325780|330507|337017|450807|517958|695124|695125|697405|825950|903677|918752|931200", + "text": "Microphthalmia, isolated 6" + }, + { + "baseId": "40034|551565", + "text": "Nanophthalmos" + }, + { + "baseId": "40039", + "text": "Kel6 antigen" + }, + { + "baseId": "40040|107250|107251|107252|107253|107254|107255", + "text": "Spermatogenic failure 9" + }, + { + "baseId": "40042|40043|51191|136030|136031|188077|188078|226978|334927|334929|334941|334945|334949|334952|334958|334961|334962|334964|334970|334975|334983|344785|344788|344789|344790|344791|344797|344798|344800|349741|349742|349743|349744|349747|349749|349751|349755|349758|349761|349763|350747|350750|350751|350754|350755|350758|350759|350761|350763|350765|350767|350769|442270|442277|442278|486279|514103|626281|716885|716889|728576|757405|791973|793821|885894|885895|885896|885897|885898|885899|885900|885901|885902|885903|885904|885905|885906|885907|885908|885909|885910|885911|887429|887430|887431|887432|887433|887434", + "text": "Spinocerebellar ataxia 35" + }, + { + "baseId": "40044", + "text": "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3" + }, + { + "baseId": "40045", + "text": "Autosomal recessive congenital ichthyosis 8" + }, + { + "baseId": "40046|792004|919927|919928|919929|920420|964544", + "text": "Retinitis pigmentosa 60" + }, + { + "baseId": "40047|40048|40049|172127|305524|305527|305532|305536|305538|305539|305540|305545|305559|305572|305573|305581|305586|305593|305599|305610|305614|305617|309408|309417|309420|309422|309433|309436|309441|309454|309461|309469|309473|309475|309481|309487|309490|309491|309500|309509|309518|309519|309520|309522|309524|314730|314733|314734|314753|314755|314763|314771|314774|314776|314787|314788|314792|314794|314800|314802|314806|314809|314811|314815|314817|314818|314824|314826|314829|314830|314834|314835|314838|314842|314843|314847|314852|314853|314857|314858|314871|314877|314880|314883|314884|314888|314893|314903|620806|899782|899783|899784|899785|899786|899787|899788|899789|899790|899791|899792|899793|899794|899795|899796|899797|899798|899799|899800|899801|899802|899803|899804|899805|899806|899807|899808|899809|899810|899811|899812|899813|899814|899815|899816|899817|899818|899819|899820|899821|899822|899823|899824|899825|899826|899827|899828|899829|899830|899831|899832|899833|899834|899835|899836|899837|899838|899839|899840|899841|899842|899843|899844|899845|899846|899847|899848|899849|899850|899851|899852|899853|899854", + "text": "Chondrodysplasia with joint dislocations, GPAPP type" + }, + { + "baseId": "40050|40052|40053|40054|48678|246995|455135|455137|455141|455278|455764|456004|521278|521280|521287|521288|521289|521290|521560|521571|521645|521652|521656|521658|521898|521910|560401|560515|560521|563279|563285|563289|563296|565261|589602|634468|634469|634470|634471|634472|634473|634474|634475|699245|699246|710113|710115|710116|710117|721641|721642|721643|735331|735332|749736|749737|765422|765424|765425|787310|799433|831370|831371|831372|831373|831374|831375|831376|831377|831378|831379|831380|831381|831382|924206|924207|924208|924209|924210|924211|933114|933115|933116|933117|933118|940023|944841|944842|944843|944844|944845|954317|954318|954319|980455|981513", + "text": "Immunodeficiency-centromeric instability-facial anomalies syndrome 2" + }, + { + "baseId": "40055|620862", + "text": "Cranioectodermal dysplasia 3" + }, + { + "baseId": "40058", + "text": "Oculomaxillofacial dysostosis" + }, + { + "baseId": "40059|40060|256098|256099|256100|256103|327647|337455|337456|343708|343713|345174|375803|684664|876991|876992|876993|876994|876995", + "text": "Meckel syndrome, type 9" + }, + { + "baseId": "40059|214358|249229|249231|645399", + "text": "Joubert syndrome 27" + }, + { + "baseId": "40061|40062|919877|919878|980966", + "text": "Three M syndrome 3" + }, + { + "baseId": "40063|131983|131984", + "text": "Spinocerebellar ataxia 36" + }, + { + "baseId": "40064|40065|40066|918658|918659", + "text": "Myopia 21, autosomal dominant" + }, + { + "baseId": "40067|40068|40069|40070|40071|40072|192504|292157|293603|293604|293607|293611|296910|296913|296918|406392|500449|500455|891719|891720|891721|918873|969116|969117|969118", + "text": "Brittle cornea syndrome 2" + }, + { + "baseId": "40073|40074|40075|40076|40077|40078|40079|251174|251175|251176|251177|251179|251180|251181|251182|251183|251184|251188|251189|271697|290778|290787|290792|290794|290798|290799|290801|290803|290812|290813|290814|290815|290818|290819|290824|290830|290831|290834|290839|290840|290843|290849|291691|291693|291694|291695|291696|291698|291701|291702|291706|291710|291717|291718|291721|291734|291736|291746|291762|291764|291767|291768|291769|291773|291775|291794|291795|291796|291798|291799|294914|294915|294916|294917|294918|294921|294925|294926|294931|294936|294953|294954|294955|294956|294958|294961|294962|294964|294965|294982|294983|295288|295290|295291|295294|295303|295305|295309|295312|295316|295318|295322|295324|295340|295341|295353|295355|295357|295358|295359|404766|428194|428195|428196|428197|428198|615339|615340|615341|615342|615343|615344|615345|615347|615348|698125|698126|708881|708886|708887|720475|720480|734089|744063|748301|777411|792738|801075|801076|801077|889145|889146|889147|889148|889149|889150|889151|889152|889153|889154|889155|889156|889157|889158|889159|889160|889161|889162|889163|889164|889165|889166|889167|889168|889169|889170|889171|889172|889173|889174|889175|889176|889178|889179|889180|889181|889182|889183|889184|889185|889186|889187|889188|889189|889190|889191|889192|889193|889194|889195|889196|889197|889198|889199|889200|889201|889202|889203|889204|889205|889206|889207|889208|889209|889210|889211|889212|889213|889214|889215|889216|889217|889218|889219|889220|889221|889222|891664|891665|891666|891667|891668|891669|891670|891671|891672|970385|970386|970387|970388|970389|970390|970391|970392|970393|970394|970395|970396|970397|970398|970399|970400|970401|970402|970403|970404|970405|970406", + "text": "Gray platelet syndrome" + }, + { + "baseId": "40080|40081|40082|40083|238667|238668|238669|238670|238671|238672|238673|238674|238675|238676|238677|238678|238679|238680|238681|238682|238683|238684|238685|238686|238687|238688|238689|238690|238691|238692|238693|238694|248479|250655|250656|250657|285216|285217|285220|285224|285226|285230|285244|285249|285251|285261|285896|285899|285900|285901|285902|285904|285905|288181|288182|288194|288196|288210|288212|288213|288214|288215|288216|288221|288232|288612|288613|288618|288621|288622|288625|288627|288632|288649|288650|288653|288654|288655|391466|391549|392394|392398|392402|392408|392412|392417|392421|392423|392425|392429|392432|392436|392439|392445|392446|392450|392459|392469|392471|392490|392496|392501|392502|392512|392513|392523|392525|392528|392532|392533|392537|392542|392545|392549|392552|392558|392561|392568|392570|392573|392596|392598|392600|392602|392605|392615|392616|392618|392628|392632|392634|392637|392639|392640|392647|392649|392651|392660|392746|392750|392754|392758|392761|392766|392770|392776|392786|392787|392789|392798|392799|392801|392803|392806|392812|392816|392818|392822|405655|448392|450406|450410|450413|450415|450418|450424|450427|450432|450448|450449|450451|450453|450455|450460|450465|450466|450468|450472|450475|450555|450556|450559|450560|450564|450566|450568|450572|450574|450576|450577|450580|450587|450589|450590|450592|450593|450600|450611|450616|450618|450627|450632|450634|450637|450685|450687|450690|450716|450722|450726|450736|450738|450739|450748|450753|450754|450756|450757|450765|450768|450771|450773|450774|450776|450777|450779|450780|450781|450787|450790|450793|450795|450797|450798|450799|450800|450801|450804|450805|450821|450828|450829|450832|450834|450836|450838|450841|450843|450848|450850|450853|516316|517760|517765|517771|517779|517782|517784|517787|517788|517789|517791|517804|517811|517813|517816|517819|517825|517837|517844|517850|517851|517855|517860|517862|517863|517864|517866|517868|517870|517871|517872|517873|517875|517877|517878|517881|517882|517884|517885|517888|517889|517891|517893|517896|517897|517898|517900|517903|517904|517905|517906|517909|517912|517917|517918|517920|517922|517923|517927|517929|517930|517931|517934|517937|517941|517943|517951|517959|517960|517966|517967|517971|517973|517979|517986|517988|517994|517996|518003|518014|518016|518020|518023|518025|557487|557904|557906|557908|557910|557912|557914|557916|557918|557920|557922|557924|557926|557928|557930|557932|557934|557936|557957|557959|557961|557963|557965|557967|557969|557971|557973|557975|557977|557979|557981|557983|557985|557987|557989|557991|557993|557995|557997|558082|558305|558639|559135|559139|559141|559143|559145|559147|559149|559151|559153|559155|559157|559159|559161|559163|559165|559167|559169|559171|559173|559175|561045|561046|561053|561056|561058|561060|561067|561071|561072|561078|561080|561085|578509|629539|629540|629541|629542|629543|629544|629545|629546|629547|629548|629549|629550|629551|629552|629553|629554|629555|629556|629557|629558|629559|629560|629561|629562|629563|629564|629565|629566|629567|629568|629569|629570|629571|629572|629573|629574|629575|629576|629577|629578|629579|629580|629581|629582|629583|629584|629585|629586|629587|629588|629589|629590|629591|629592|629593|629594|629595|629596|629597|629598|629599|629600|629601|629603|629604|629605|629606|629607|629608|629609|629610|629611|629612|629613|629614|629615|629616|629617|629618|650733|650734|650752|650801|650809|650815|650943|650957|650968|650980|650982|650985|683489|683490|686150|686151|686152|686154|686155|686156|686157|686158|686159|686161|686162|689708|689709|689710|691036|691037|691040|691041|691042|691043|691044|691046|691048|691049|691050|695119|695120|695123|697387|697389|708104|719701|719702|733255|747405|763040|763051|777260|781236|781237|781238|819136|819137|819138|819139|819140|819141|819142|825844|825845|825846|825847|825848|825849|825850|825851|825852|825853|825854|825855|825856|825857|825858|825859|825860|825861|825862|825863|825864|825865|825866|825867|825868|825869|825870|825871|825872|825873|825874|825875|825876|825877|825878|825879|825880|825881|825882|825883|825884|825885|825886|825887|825888|825889|825890|825891|825892|825893|825894|825895|825896|825897|825898|825899|825900|825901|825902|825903|825904|825905|825906|825907|825908|825909|825910|825911|825912|825913|825914|825915|825916|825917|825918|825919|825920|825921|825922|825923|825924|825925|825926|825927|825928|825929|825930|825931|825932|825933|825934|825935|825936|825937|825938|825939|825940|825941|825942|825943|825944|825945|825946|825947|825948|825949|850843|850890|850892|851160|851162|851408|884099|884100|884101|884102|884103|884104|884105|884106|884107|884108|884109|884110|884111|884112|884113|884114|884115|884116|884117|884118|884119|884120|887311|887312|887313|887314|922604|922605|922606|922607|922608|922609|922610|922611|922612|922613|922614|922615|922616|922617|922618|922619|922620|922621|922622|922623|922624|922625|922626|922627|922628|922629|922630|922631|922632|922633|922634|922635|922636|931176|931177|931178|931179|931180|931181|931182|931183|931184|931185|931186|931187|931188|931189|931190|931191|931192|931193|931194|931195|931196|931197|931198|931199|939879|940702|942643|942644|942645|942646|942647|942648|942649|942650|942651|942652|942653|942654|942655|942656|942657|942658|942659|942660|942661|942662|942663|942664|942665|942666|942667|942668|942669|942670|942671|942672|942673|942674|952966|952967|952968|952969|952970|952971|952972|952973|952974|952975|952976|952977|952978|952979|952980|952981|952982|952983|960466|970354", + "text": "Perlman syndrome" + }, + { + "baseId": "40085|70470|70471|181457|198640|247457|247458|247459|256756|256758|256759|490706|508908|508909|508910|508911|508912|508913|508914|508915|508916|512962|513656|514257|514258|576183|971111", + "text": "Adams-Oliver syndrome 2" + }, + { + "baseId": "40086|226420|610419|789716|789717|789718|789719", + "text": "Spinal muscular atrophy with congenital bone fractures 2" + }, + { + "baseId": "40090|48234|48235|523487|562062|562513|564811|564813|578468|622387|636782|636783|636784|636785|636786|700470|700471|700472|700473|700474|711396|711397|711399|711400|722927|730551|751000|777694|777917|779288|779491|834294|834295|834296|834297|834298|852419|925069|945913|945914|945915|955341|955342", + "text": "5-Oxoprolinase deficiency" + }, + { + "baseId": "40091|40092|40093|40094|40095|40096|40097|40098|40099|200311|374719|374728|374736|375617|375620|375624|375625|375764|375770|375783|375793|375794|375801|377904|377918|409782|433338|433339|505665|505666|505854|506592|506600|506607|530701|568454|568456|570613|574204|589790|645124|645125|645126|645127|645128|645129|645130|645131|645132|645133|656394|656396|715199|715200|715201|715202|726924|726925|726927|726928|726929|726930|726931|726932|726933|731119|740502|744896|744945|745259|755536|755538|755540|755541|755542|771183|771184|771185|771186|771187|771188|771189|771190|771191|771192|771193|771194|771195|771196|771198|776412|776598|779853|785430|785431|785432|785433|787943|788103|820913|844482|844483|844484|844485|844486|844487|844488|844489|844490|852133|919683|928004|928005|937658|937659|937660|949627|949628|949629|949630|957914|957915|957916|957917|957918|957919|957920|957921|965208", + "text": "Combined malonic and methylmalonic aciduria" + }, + { + "baseId": "40100|40101|40102|40103|40104|40105|40106|40123|49664|49665|49666|49667|49668|49669|49670|49671|49672|49673|135446|199793|207793|207794|269442|311174|311179|311180|311183|311184|311185|311189|311192|311202|311204|311205|311206|311221|311222|311226|311227|311232|311233|311239|316493|316494|316495|316518|316519|316520|316527|316529|316531|316534|316547|316548|316549|316551|316552|316564|316565|316572|316576|316579|316580|316619|316628|316629|316631|316632|316633|316639|316640|316641|316647|316650|316651|316654|316655|316656|322564|322567|322574|322575|322576|322588|322596|322597|322601|322603|322606|322611|322613|322617|322619|322626|322627|322631|322634|322657|322660|322662|322663|322665|322667|322669|323315|323316|323322|323342|323357|323359|323361|323362|323364|323365|323371|323372|323373|323378|323380|323381|323384|323390|353154|364113|421801|429128|439194|444659|482006|578488|624053|626348|672363|672364|672365|672366|701442|712482|724081|730712|737611|737614|752285|777881|779482|805020|866305|866306|866307|866308|866309|866310|866311|866312|866313|866314|866315|866316|866317|866318|866319|866320|866321|866322|866323|866324|866325|866326|866327|866328|866329|866330|866331|866332|866333|866334|866335|866336|866337|866338|866339|866340|866341|866342|866343|866344|866345|866346|866347|868507|868508|868509|868510|868511|904249|964258|964843", + "text": "Hypomyelinating leukodystrophy 7" + }, + { + "baseId": "40101|40103|237149|425890|439194|444659|540040|540041|540042|540043|540044|540045|540046|540047|540048|540050|540051|540052|609288|609290|609291|610434|610435|610436|919292|920286", + "text": "Neonatal pseudo-hydrocephalic progeroid syndrome" + }, + { + "baseId": "40107|107259|107260|107261|107262|107263|447720|447952|448067|448069|685680|685681|685682|685683|690567|690568|707256|707258|920146", + "text": "Van der Woude syndrome 2" + }, + { + "baseId": "40109", + "text": "Glucocorticoid therapy, response to" + }, + { + "baseId": "40110|40111|818282|962165|980337|980842", + "text": "Renal dysplasia, cystic, susceptibility to" + }, + { + "baseId": "40112|40113|40114|40115|40115|40304|94434|94435|133985|133987|208565|227688|243317|243318|270629|332963|332964|332966|332967|332970|332984|332992|332997|333000|333006|333014|333023|333024|333025|333030|333034|333036|333038|333040|333042|333043|343108|343109|343110|343124|343125|343138|343147|343152|343155|343156|343163|348467|348469|348470|348473|348475|348481|348485|348486|348489|348492|348493|348495|348498|348500|348501|348505|348507|348508|348510|348512|348513|348516|348517|348526|348527|348534|348536|348537|348541|348542|349591|349592|349595|349597|349598|349599|349600|349603|349604|349607|349608|349611|349612|349615|349618|349619|349620|349621|349622|349623|349624|349627|349628|349629|349631|353491|377370|377571|389176|413502|430169|430170|507240|608843|608844|608864|622455|624086|624087|861656|880212|880213|880214|880215|880216|880217|880218|880219|880220|880221|880222|880223|880224|880225|880226|880227|880228|880229|880230|880231|880232|880233|880234|880235|880236|880237|880238|880239|880240|880241|880242|880243|880244|880245|880246|880247|880248|880249|880250|880251|880252|880253|970136", + "text": "Neurodegeneration with brain iron accumulation 4" + }, + { + "baseId": "40112|40114|40115|40115|94434|133987|181460|243317|243318|270629|349629|377370|377371|468606|469533|470004|470592|506829|532827|573001|608843|647893|653158|688979|821247|847484|847485|847486|928911|958590", + "text": "Spastic paraplegia 43, autosomal recessive" + }, + { + "baseId": "40113", + "text": "Abnormality of iron homeostasis" + }, + { + "baseId": "40114|40115|103972|104114|360907|360961|861284", + "text": "Mental deterioration" + }, + { + "baseId": "40114|40115|513915", + "text": "Adult-onset night blindness" + }, + { + "baseId": "40117|40118|40119|40120|40121|40122|40123|40123|40124|135447|135448|135449|207933|207934|269442|269442|315851|315852|315855|315858|315861|315862|315863|315872|315873|315874|322947|322949|322953|322954|322962|322964|322967|322968|322974|322976|322980|322992|322994|323000|323002|329011|329012|329023|329024|329027|329028|329038|329039|330222|330223|330224|330226|330233|330236|330243|330244|362748|408505|482006|611987|620839|738412|858693|869149|869150|869151|869152|869153|869154|869155|869156|869157|869158|869159|869160|869161|869162|869163|869164|869165|872178|872179|872180|872181|872182|872183|872184|919403|961616", + "text": "Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism" + }, + { + "baseId": "40123|361949", + "text": "Cerebellar hypoplasia with endosteal sclerosis" + }, + { + "baseId": "40123|311191|311239|316543|316644|322577|322625|322671|322683|322935|323324|323393|330216|861638", + "text": "Pol III-related leukodystrophy" + }, + { + "baseId": "40123|977249|977250", + "text": "POLR3-related leukodystrophy" + }, + { + "baseId": "40126|40127|40128|40133|40134|48351|48355|76664|76665|76666|76666|135484|142516|203303|268829|401080|401127|434539|445560|466359|466360|513169|529903|529907|529988|529990|529993|530240|551738|568080|570100|574025|614422|802010", + "text": "Episodic kinesigenic dyskinesia 1" + }, + { + "baseId": "40128|40129|40131|40132|40133|48352|76666|76666|268829|360996|401127|486761|574025|612309|614422|919638|919639|919640|964450|964451", + "text": "Infantile convulsions and choreoathetosis" + }, + { + "baseId": "40129|40131|48351|76665|76666|102388|135484|135485|142516|142517|142518|177990|192568|194540|203296|203298|203301|203302|203306|203309|203310|203311|203316|242399|264624|265740|268829|360175|360388|375084|375094|401127|401160|401889|409613|409614|441899|445558|445564|445565|464834|465541|465631|466357|466363|466366|466367|466626|491156|505578|529913|529985|530235|530236|530411|568082|568093|569809|570234|570237|570249|574025|574027|579992|621910|644575|644576|644577|644578|644579|644580|644581|644582|644583|644584|644585|644586|644587|644588|652624|652628|653013|688562|688564|693844|785253|822116|822117|843731|843732|843733|843734|843735|843736|843737|843738|843739|843740|843741|843742|843743|843744|843745|843746|843747|852107|852109|860252|860254|927767|927768|927769|927770|927771|927772|927773|937404|937405|937406|937407|937408|937409|937410|937411|949357|949358|949359|949360|949361|949362|949363|949364|949365|949366|957730|957731", + "text": "Paroxysmal kinesigenic dyskinesia" + }, + { + "baseId": "40130|48351|48353|48354|48355|76666|76666|181171|268829|401127|434539|491156|574025|614422|802011|802059|959507|964449", + "text": "Seizures, benign familial infantile, 2" + }, + { + "baseId": "40135|40136|330145|330154|330155|330157|330158|330160|330164|330168|330169|330170|330177|330179|330182|330184|330188|330190|330193|340348|340350|340352|340356|340359|340361|340375|340377|340386|340395|340396|340403|340404|340407|340408|340410|340412|346084|346088|346089|346094|346095|346096|346099|346100|346101|346105|346107|346109|346112|346113|346114|346119|346120|346124|346125|346128|346129|346130|347386|347387|347388|347389|347390|347394|347399|347402|347403|347406|347407|347411|347419|347420|347429|347433|347434|347437|347438|353458|353459|353460|620609|878589|878590|878591|878592|878593|878594|878595|878596|878597|878598|878599|878600|878601|878602|878603|878604|878605|878606|878607|878608|878609|878610|878611|878612|878613|878614|878615|878616|878617|878618|878619|878620|880603|880604|880605|961339", + "text": "Palmoplantar keratoderma-esophageal carcinoma syndrome" + }, + { + "baseId": "40137|40138|40139|40140|40141|136038|136039|136040|190780|193468|194337|195277|206938|227230|250478|250480|250487|250491|270773|271183|283948|283950|283951|283953|283954|283958|284644|284649|284652|284654|284670|284678|284679|284680|284682|284683|284684|286558|286564|286573|286578|286602|286611|286615|286617|286621|286622|286626|287013|287016|287021|287033|287034|287035|287036|287037|287038|287039|359341|366304|366861|517638|557477|622866|622867|629291|629292|650936|679821|691006|697247|697248|707944|707945|719518|733073|774661|825571|825572|825573|825574|825575|825576|825577|825578|825579|825580|825581|825582|825583|825584|850872|851143|883261|883262|883263|883264|883265|883266|883267|883268|883269|883270|883271|883272|883273|883274|883275|883276|883277|883278|883279|883280|883281|883282|883283|883284|883285|883286|883287|883288|883289|883290|883291|883292|883293|883294|883295|883296|883297|883298|883299|883300|883301|883302|883303|883304|883305|883306|883307|883308|883309|887237|922514|922515|939870|942558|942559|942560|942561|952882|952883|952884|959621", + "text": "Joubert syndrome 14" + }, + { + "baseId": "40142|40143|332156|332159|332189|332192|332295|342362|342364|342373|347768|347784|347860|349152|349156|349157|349164|349168|349189|919808", + "text": "Aural atresia, congenital" + }, + { + "baseId": "40144|40145|40146|40147|40148|136032|254215|272201|314355|314362|314363|314369|320972|320989|320990|327038|327043|327054|327055|328129|328130|328139|328142|429245|461210|565866|567346|640172|701827|838574|838575|868150|868151|868152|868153|868154|868155|868156|868157|868158|906286", + "text": "Joubert syndrome 16" + }, + { + "baseId": "40149|40152|404688|404689", + "text": "Retinitis pigmentosa 64" + }, + { + "baseId": "40150|40151|267667|275072|306077|306078|306079|306083|310085|310087|310088|310091|310095|310120|310121|315427|315432|315433|315434|315437|315438|315622|315623|315628|315629|315630|315633|315634|404691|512914|779562|790825|900550|900551|900552|900553|900554|900555|900556|900557|900558|900559|900560|900561|900562|900563|900564|900565|900566|900567|900568|900569|900570|900571|900572|900573|900574|900575|900576|900577|919179", + "text": "Cone-rod dystrophy 16" + }, + { + "baseId": "40151|404690|424182|672021|672022", + "text": "Bardet-Biedl syndrome 21" + }, + { + "baseId": "40153", + "text": "Mitochondrial complex 4 deficiency, nuclear type 10" + }, + { + "baseId": "40155|171290|264319|361337|369134|369715|371086|415099|425749|425750|457147|457151|457332|457335|457749|457750|502005|511708|523071|561565|561571|590729|625974|636123|636124|636125|636126|636127|655793|692224|700030|782853|789119|798585|819870|833557|833558|833559|833560|833561|833562|924839|924840|924841|933867|933868|940876|960632", + "text": "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss" + }, + { + "baseId": "40156|178317|178318|178319|178320|198630|236952|259858|264325|359788|363971|364240|415096|421631|428700|428701|428702|438349|438745|438779|439021|439158|441074|441075|441076|441076|441077|444115|444116|456461|456645|456647|456649|456651|456653|456661|456663|456665|456668|456669|456670|456671|456673|456675|457046|457049|457051|457053|457055|457058|457062|457064|457070|457071|457083|457085|457087|457094|457095|457106|457109|457111|457244|457247|457253|457254|457254|457257|457263|457265|457265|457274|457280|457281|457287|457290|457299|457672|457679|457681|457687|457689|457691|457694|457696|457697|457698|457701|457705|457715|457716|457722|457724|522563|522564|522568|522572|522574|522587|522590|522594|522619|522621|522852|522852|522854|522863|522869|522872|522873|522874|522878|522935|522938|522947|522948|522951|522956|522962|522975|522983|522985|522987|522996|523003|523004|523006|523009|523013|523016|523232|523239|523240|523243|523248|523250|523253|523256|536732|536733|550154|561485|561501|561504|561510|561514|561521|561529|561532|561534|561536|561538|561541|561542|561869|561871|561875|561888|561889|561891|561893|564226|564238|564242|564244|564249|564253|564258|564264|564270|566742|566750|566755|566761|566763|566767|566777|566786|566790|566792|566793|566797|566798|566800|576967|576968|576971|578457|589838|636052|636053|636054|636055|636056|636057|636058|636059|636060|636061|636062|636063|636064|636065|636066|636067|636068|636069|636070|636071|636072|636073|636074|636075|636076|636077|636078|636079|636080|636081|636082|636083|636084|636085|636086|636087|636088|636089|636090|636091|636092|636093|651613|651673|651675|651690|651699|651717|692217|700016|700017|700018|722464|722465|722466|736089|750577|750578|750581|750585|750586|750587|750589|759541|766217|766218|766219|766220|766222|766224|766226|766228|766229|766230|766233|766234|766235|766236|766238|766239|775257|777682|779329|782841|782843|787657|805540|819863|819864|819865|833500|833501|833502|833503|833504|833505|833506|833507|833508|833509|833510|833511|833512|833513|833514|833515|833516|833517|833518|833519|833520|833521|833522|833523|833524|833525|833526|833527|833528|833529|833530|833531|833532|833533|833534|833535|833536|833537|833538|851148|851150|851640|852082|861065|924818|924819|924820|924821|924822|924823|924824|924825|924826|924827|924828|924829|924830|924831|924832|924833|933839|933840|933841|933842|933843|933844|933845|933846|933847|933848|933849|933850|933851|933852|933853|933854|933855|933856|940074|945589|945590|945591|945592|945593|945594|945595|945596|945597|945598|945599|945600|945601|945602|945603|945604|955130|955131|955132|955133|955134|955135|959851|959852|959853|960631", + "text": "Rigidity and multifocal seizure syndrome, lethal neonatal" + }, + { + "baseId": "40156|226904|259858|264325|415096|441076|444115|457254|457265|522852|590703|965277", + "text": "Neurodevelopmental disorder with cerebellar atrophy and with or without seizures" + }, + { + "baseId": "40157|40158|40159|40160|40161|40162|40163|190984|190986|190987|190988|190989|193454|193455|194331|195602|266811|267422|328288|328292|328298|328302|328303|328305|328306|328313|328315|328316|328318|328319|328320|328324|328327|328336|338148|338154|338157|338168|338169|338178|338185|338186|338188|338194|338195|338197|338198|338200|338202|338206|338208|338213|338217|338228|338229|338237|338241|344285|344286|344291|344293|344294|344297|344298|344299|344302|344303|344306|344307|344308|344314|344318|344319|344327|344328|344329|344331|344341|345700|345708|345711|345713|345715|345721|345722|345727|345728|345738|345739|345744|345748|345750|345751|345752|345753|345754|345755|345760|345761|345764|345765|345766|345768|345771|374952|488915|512954|512955|512956|512957|512958|590325|612106|620583|620584|620585|620586|877324|877325|877326|877327|877328|877329|877330|877331|877332|877333|877334|877335|877336|877337|877338|877339|877340|877341|877342|877343|877344|877345|877346|877347|877348|877349|877350|877351|877352|877353|877354|877355|877356|877357|877358|877359|877360|877361|877362|877363|877364|877365|877366|877367|877368|877369|877370|877371|877372|877373|877374|877375|877376|877377|877378|877379|877380|877381|877382|877383|877384|877385|877386|877387|877388|877389|877390|880510", + "text": "Congenital stationary night blindness, type 1E" + }, + { + "baseId": "40164|788871|791288", + "text": "Mitochondrial complex 1 deficiency, nuclear type 23" + }, + { + "baseId": "40175|227354|445157|504312|504579|513617|903597|972614|977266", + "text": "Auditory neuropathy, autosomal dominant, 1" + }, + { + "baseId": "40177|40180|167373|167374|167374|167375|167376|167377|167873|167874|167875|167877|167880|167882|167883|167884|167885|167886|167888|167889|167892|167894|167898|167899|167902|167903|167905|167906|167907|192147|192857|193872|194083|194692|207263|214197|214204|214208|214208|214213|214224|214224|226694|251954|251957|251958|251959|251962|251963|259826|264270|297473|299544|299627|303719|303744|303745|303747|304067|304127|304138|368170|368486|368487|368653|369882|455193|455194|455631|455640|455653|455878|455885|501209|501355|521204|521461|521469|521796|521797|560329|560331|560333|560335|560337|560339|560341|560343|560345|560458|560460|560462|560464|563172|563173|565134|565136|565141|565142|565154|565158|633955|633957|655663|677420|677421|691858|691859|699082|699084|709906|721448|777461|932913", + "text": "Orofaciodigital syndrome type 6" + }, + { + "baseId": "40182|40183|40184|40185|40186|49901|49902|49903|135607|242440|242441|255756|255757|255758|325474|325478|325480|325489|325491|325492|335122|335125|335126|335128|335133|335139|335142|341576|341579|341580|341582|341585|341589|341597|341598|341600|341603|341608|343063|343065|343066|343067|343068|361310|401185|401188|401245|401247|401248|401249|401694|401703|401713|401947|401948|401954|401955|446891|465753|465755|466457|466461|466464|466465|466478|466481|466715|466719|466722|466724|466726|466728|495621|513359|529983|529991|530119|530122|530124|530130|530136|530140|530143|530316|530327|530332|530530|530533|567509|568143|568152|568160|568167|570198|570205|570215|570220|570231|570307|570309|570310|570313|570314|574067|574068|574069|574070|574072|574074|574076|574078|614426|644692|644693|644694|644695|644696|644697|644698|644699|644700|644701|644702|644703|644704|644705|644706|644707|652564|652727|652730|652856|653024|653026|684596|688605|693883|703697|703698|703699|726648|740204|755197|778308|820830|843880|843881|843882|843883|843884|843885|843886|843887|843888|843889|843890|843891|843892|852662|875353|875354|875355|875356|875357|875358|875359|875360|875361|875362|875363|875364|875365|876674|876675|919657|919658|920362|927822|927823|927824|927825|927826|927827|937456|937457|937458|941137|941138|949407|949408|957767|957768|960160|960161|960845|977277", + "text": "Kohlschutter's syndrome" + }, + { + "baseId": "40188|40189|40190|40191|40192|40193|40194|193296|205750|237436|421561|552090|614292|614293|614294|614295|677324|677325|686770|735285|788788|792754|799432|805082|920216", + "text": "Trichohepatoenteric syndrome 1" + }, + { + "baseId": "40195|236870|497644|654888|654889", + "text": "Deafness, autosomal dominant 4b" + }, + { + "baseId": "40200", + "text": "Influenza" + }, + { + "baseId": "40205|40206|40207|257238|257242|257246|257247|257248|334402|486617|571106|620648", + "text": "Ciliary dyskinesia, primary, 2" + }, + { + "baseId": "40241|40241|40242|40243|40244|40244|40245|40246|40247|40248|48208|48209|48210|48211|48212|134731|134732|134733|134734|134735|190323|195615|195925|195926|207476|229571|252664|264316|266194|266398|266415|266881|269121|269303|270263|270439|271687|272178|272417|273054|273084|273583|273914|273915|274335|274913|275461|302410|310676|310678|359660|369708|421628|441073|455864|456460|456524|456525|456530|456532|456533|456537|456921|456927|488656|488991|488993|501707|502340|511027|521886|522255|522512|522515|522753|522824|552116|552117|561049|561051|561440|561757|561758|564183|566071|566072|566643|585148|587299|635966|635967|635968|635969|651599|651612|651663|651664|651666|651686|722433|777643|833389|833390|833391|833392|833393|833394|833395|833396|833397|924777|924778|924779|924780|933801|933802|933803|933804|945545|945546|945547|945548|945549|945550|955102|959845", + "text": "Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7" + }, + { + "baseId": "40241|40244|134731|134732|134733|134735|166226|166227|190323|195615|195925|195926|207476|252664|264316|266194|266398|266415|266881|269121|269303|270263|270439|271687|272178|272417|273054|273084|273583|273914|273915|274335|274913|275461|302410|310676|310678|359660|369708|421628|441073|455864|456460|456524|456525|456530|456532|456533|456537|456921|456927|488656|488991|488993|501707|502340|521886|522255|522512|522515|522753|522824|561049|561051|561440|561757|561758|564183|566071|566072|566643|585148|587299|635966|635967|635968|635969|651599|651612|651663|651664|651666|651686|722433|777643|788813|833389|833390|833391|833392|833393|833394|833395|833396|833397|924777|924778|924779|924780|933801|933802|933803|933804|945545|945546|945547|945548|945549|945550|955102|959845", + "text": "Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7" + }, + { + "baseId": "40249|40250|40251|790438", + "text": "UV-sensitive syndrome 3" + }, + { + "baseId": "40272|40273|76328", + "text": "Cortisone reductase deficiency 2" + }, + { + "baseId": "40274|135605|205015|512913|626177|919157", + "text": "Ataxia, sensory, autosomal dominant" + }, + { + "baseId": "40277|40278", + "text": "Craniodiaphyseal dysplasia, autosomal dominant" + }, + { + "baseId": "40280|40283|140689|362105|362106|362107|362108|362109|429590|513622|798678|798679|798680|818307|971000|980428|980430", + "text": "Coenzyme Q10 deficiency, primary, 6" + }, + { + "baseId": "40285|40286", + "text": "Glutaric acidemia iic, late-onset" + }, + { + "baseId": "40286", + "text": "Acyl-CoA dehydrogenase deficiency, glutaric acidemia type II" + }, + { + "baseId": "40288|40289|171002|171003|725024|791221|791222|858656|858657|965206", + "text": "Meconium ileus" + }, + { + "baseId": "40290|40291|40292|40294|79667|79668|79669|79670|79671|79672|79673|79675|79677|410301|438057|467673|467685|467691|467695|467701|468580|468584|468585|468588|468597|469031|469034|469041|469042|469045|469053|469055|469057|469061|469337|469338|469341|469344|469347|469349|469351|469368|469371|531963|531969|531977|531981|531984|531988|531990|531991|531993|531995|531999|532001|532003|532005|532007|532013|532061|532070|532072|532074|532077|532087|532351|532359|532364|532366|532372|532382|569895|569900|569903|569904|569905|569923|569924|571737|571738|571739|571741|571742|571746|572413|572416|572420|572425|574676|574677|574678|574679|574680|574681|574682|646915|646916|646917|646918|646919|646920|646921|646922|646923|646924|646925|646926|646927|646928|646929|646930|646931|646932|646933|646934|646935|646936|646937|646938|646939|646940|646941|646942|646943|646944|646945|646946|646947|646948|646949|646950|646951|646952|646953|646954|646955|646956|646957|646958|646959|652865|652869|715783|727500|727501|727502|727503|727504|741113|741114|741115|741116|741117|741118|741119|745351|756210|756211|756212|756213|771921|771922|771923|771929|771931|771932|776563|779985|785795|785796|797620|846450|846451|846452|846453|846454|846455|846456|846457|846458|846459|846460|846461|846462|846463|846464|846465|846466|846467|846468|846469|846470|846471|846472|846473|846474|846475|846476|846477|846478|846479|846480|846481|846482|846483|846484|846485|846486|852802|928600|928601|928602|928603|928604|928605|928606|928607|928608|928609|938305|938306|938307|938308|938309|938310|938311|938312|938313|938314|938315|940445|950376|950377|950378|950379|950380|950381|950382|950383|950384|958378|958379|958380|958381|958382|958383|960254", + "text": "Psoriasis susceptibility 2" + }, + { + "baseId": "40290|44240|588258|646922|672278|672279|672280|672281|672306", + "text": "Papulosquamous eruptions" + }, + { + "baseId": "40293", + "text": "Psoriasis 2, pustular" + }, + { + "baseId": "40295|136187|136188|226676|237371|538465|622440|672100|727020|755656|797496|965999|966000|971067|971068|972796", + "text": "Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2" + }, + { + "baseId": 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532|954533|954534|954535|954536|954537|954538|954539|954540|954541|954542|954543|954544|954545|954546|954547|954548|954549|954550|954551|954552|954553|954554|954555|954556|954557|954558|954559|954560|954561|954562|954563|954564|954565|954566|954567|954568|954569|954570|954571|954572|954573|954574|954575|954576|954577|954578|954579|954580|954581|954582|954583|954584|954585|954586|954587|954588|954589|954590|954591|954592|954593|954594|954595|954596|954597|954598|954599|954600|954601|954602|954603|954604|954605|954606|954607|954608|954609|954610|954611|954612|954613|954614|954615|954616|954617|954618|954619|954620|954621|954622|954623|954624|954625|954626|954627|954628|954629|954630|954631|954632|954633|954634|954635|954636|954637|954638|954639|954640|954641|954642|954643|954644|954645|954646|954647|954648|954649|954650|954651|954652|954653|954654|954655|954656|954657|954658|954659|954660|954661|954662|954663|954664|954665|954666|954667|954668|954669|954670|954671|954672|954673|954674|954675|954676|954677|954678|954679|954680|954681|954682|954683|954684|954685|954686|954687|954688|954689|954690|954691|954692|954693|954694|954695|954696|954697|954698|954699|954700|954701|954702|954703|954704|954705|954706|954707|954708|954709|954710|954711|954712|954713|954714|954715|954716|954717|954718|954719|954720|954721|954722|954723|954724|954725|954726|954727|954728|954729|954730|954731|954732|954733|954734|954735|954736|954737|954738|954739|954740|954741|954742|954743|954744|954745|954746|954747|954748|954749|954750|954751|954752|954753|954754|954755|954756|954757|954758|954759|954760|954761|954762|954763|954764|954765|954766|954767|954768|954769|954770|954771|954772|954773|954774|954775|954776|954777|954778|954779|954780|954781|954782|954783|954784|954785|954786|954787|954788|954789|954790|954791|954792|954793|954794|954795|959809|960589|960590|960591|960592|960593|960594|960595|960596|960597|960598|960599|960600|960601|960602", + "text": "Neuropathy, hereditary sensory and autonomic, type VI" + }, + { + "baseId": "40299", + "text": "Skin/hair/eye pigmentation, variation in, 11" + }, + { + "baseId": "40312", + "text": "Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair" + }, + { + "baseId": "40313|40314|40316|40317|40318|75620|205719|538936|977166", + "text": "Auriculocondylar syndrome 1" + }, + { + "baseId": "40314|40315|40316|40317|40318|75621|75622|75623|75624|75625|336466|336467|336469|336472|336474|336475|336485|336490|336492|336495|336501|336514|336517|336518|336524|336525|346175|346180|346182|346184|346189|346190|346194|346195|346197|346202|346205|346208|346210|346217|346235|346237|350485|350486|350488|350490|350492|350494|350498|350499|350500|350501|350503|350504|350509|350510|350512|350513|351540|351542|351543|351544|351545|351546|351547|351548|351549|351550|351552|351554|351556|620669|622924|886605|886606|886607|886608|886609|886610|886611|886612|886613|886614|886615|886616|886617|886618|886619|886620|886621|886622|886623|886624|886625|886626|886627|886628|886629|886630|886631|886632|886633|886634|886635|886636|886637|886638|887496|887497|887498|887499|887500|919930", + "text": "Auriculocondylar syndrome 2" + }, + { + "baseId": "40316|336506|336511|350505|350508|350515|351559", + "text": "Auriculocondylar syndrome" + }, + { + "baseId": "40326|40327|40328|40329|76338|205389|205390|205391|205392|205393|205395|205396|205397|205398|205399|205400|205401|205402|205403|206712|206715|206717|206718|277041", + "text": "Nager syndrome" + }, + { + "baseId": "40332|54990|54991|54993|54994|141150|141151|174125|174258|229606|229607|229608|258517|359869|395822|457066|509986|523373|523376|561808|561809|562259|562260|564493|636443|636444|636445|692331|833925|833926|833927|833928|833929|924933|934026|934027|945786|945787|955242", + "text": "Cardiomyopathy, dilated, 2b" + }, + { + "baseId": "40333", + "text": "Periodic fever, menstrual cycle-dependent" + }, + { + "baseId": "40334|40335|207136|293761|293764|293765|293775|293776|293781|293784|293785|293786|295122|295125|295128|295129|295132|295135|295136|295139|295143|295151|295152|295153|295157|295158|295159|295169|295171|298800|298801|298805|298806|298809|298813|298817|298818|298821|298822|298823|298824|298831|298836|298837|298844|298845|298846|298862|298871|298872|298873|298888|298889|298896|298897|364015|891896|891897|891898|891899|891900|891901|891902|891903|891904|891905|891906|891907|891908|891909|891910|891911|895980", + "text": "Bone marrow failure syndrome 1" + }, + { + "baseId": "40336|195424|404686|426744|508795|681824|681825|721015|965961|965962|966034|970210", + "text": "Primary autosomal recessive microcephaly 8" + }, + { + "baseId": "40337|40338|40339|40340|45671|135284|135285|135286|135287|135288|135289|135290|135291|207265|207266|207268|207274|297951|297953|297954|297964|297966|297967|297968|300109|300133|300135|300140|300142|300144|300147|300149|300171|300175|304370|304371|304375|304380|304701|304707|304708|304709|304710|424377|428449|428454|551291|551292|579087|579099|579168|735155|789117|792753|816456|894598|894599|894600|894601|894602|894603|894604|894605|894606|894607|894608|894609|894610|894611|894612|894613|894614|894615|896123|896124|896125|961277", + "text": "Mental retardation, autosomal recessive 5" + }, + { + "baseId": 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+ "text": "Saldino-Mainzer syndrome" + }, + { + "baseId": "40341|40342|40345|439752|439753|439754|439755|439756|623320|623321", + "text": "Retinitis pigmentosa 80" + }, + { + "baseId": "40345|513804", + "text": "Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene" + }, + { + "baseId": "40348|40349|40350|40351|40352|134469|134470|134471|134472|181189|207721|207722|207723|264333|308353|308354|308356|308360|308362|312805|312826|318660|318661|319245|319246|319257|319258|370434|370435|370940|371289|481858|503167|536776|564079|613400|638336|638337|692679|751718|751719|836167|836168|902078|902079|902080|902081|902082|902083|902084|902085|902086|902087|902088|902089|902090|903408|903409|934787|955859", + "text": "Pontocerebellar hypoplasia, type 1b" + }, + { + "baseId": 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+ "text": "Koolen-de Vries syndrome" + }, + { + "baseId": "40357|40358|242820|256213|256216|328726|328732|328734|328737|328752|328755|328756|338712|344774|344776|344777|344779|344786|344792|344793|346162|346163|346168|346176|688776|877774|877775|877776|877777|877778|877779|877780|877781|877782|877783|877784", + "text": "Ciliary dyskinesia, primary, 17" + }, + { + "baseId": "40412|40415|40416|40422|40422|134331|192381|192382|193542|193544|193545|193548|193549|205057|205058|205058|205059|229102|229103|251228|251229|251230|251231|266062|266362|266367|266544|266651|267013|267099|267266|267485|267553|268353|268535|269002|269594|269699|270827|270843|270953|271161|271547|273077|273811|274325|274429|275445|360855|367671|367673|421451|425572|428207|440827|452520|452833|452847|452849|452855|453073|453078|453085|488604|488986|490429|490672|493824|500592|519415|519423|519425|519427|519600|519606|519608|519618|519620|519650|519652|519658|519660|519666|519668|519671|519677|559044|559046|559574|559576|559578|561665|561667|561670|561676|561679|563084|563093|563095|584270|586994|588747|588928|631556|631557|631558|631559|631560|631561|631562|631563|631564|631565|631566|631567|631568|631569|631570|631571|631572|631573|631574|655559|691446|691448|691449|708929|764015|764018|781742|819407|819410|828326|828327|828328|828329|828330|828331|828332|828333|828334|828335|828336|828337|828338|828339|828340|851057|851464|923263|923264|923265|923266|923267|932014|932015|932016|932017|932018|943621|943622|943623|953540|953541|953542|960519", + "text": "Limb-girdle muscular dystrophy-dystroglycanopathy, type C9" + }, + { + "baseId": "40412|40416|40422|134331|192381|192381|192382|193542|193544|193545|193548|193549|205058|205059|205059|205060|229103|251228|251229|251230|251231|266062|266362|266367|266544|266651|267013|267099|267266|267485|267553|268353|268535|269002|269594|269699|270827|270843|270953|271161|271547|273077|273811|274325|274429|275445|360855|367671|367673|421451|425572|428207|440827|452520|452833|452847|452849|452855|453073|453078|453085|488604|488986|490429|490672|493824|500592|519415|519423|519425|519427|519600|519606|519608|519618|519620|519650|519652|519658|519660|519666|519668|519671|519677|559044|559046|559574|559576|559578|561665|561667|561670|561676|561679|563084|563093|563095|584270|586994|588747|588928|631556|631557|631558|631559|631560|631561|631562|631563|631564|631565|631566|631567|631568|631569|631570|631571|631572|631573|631574|655559|691446|691448|691449|708929|764015|764018|781742|819407|819410|828326|828327|828328|828329|828330|828331|828332|828332|828333|828334|828335|828336|828337|828338|828339|828340|851057|851464|918842|923263|923264|923265|923266|923267|932014|932015|932016|932017|932018|943621|943622|943623|953540|953541|953542|960519", + "text": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9" + }, + { + "baseId": "40426|178686", + "text": "Ventricular extrasystoles" + }, + { + "baseId": "40438|52111|52844", + "text": "Increased left ventricular wall thickness" + }, + { + "baseId": "40450|40451|40452|40453|40454|40455|40456|40457|40458|40459|40460|40461|40462|40463|40464|40465|40466|40467|40468|40469|40470|40471|40472|40473|40474|40475|40477|40479|40480|40481|40482|40483|40484|40485|40486|40487|40491|40496|59549|142116|142117|142118|142119|142120|142121|142122|142124|142125|142126|142127|165576|178627|178628|189843|189844|189845|189846|189847|189849|189850|189852|189853|189854|189855|189858|189860|189861|189862|191955|195434|198256|198259|198261|198262|198264|198265|198266|198267|198268|198269|198271|198272|198274|198275|198279|198282|198283|221986|221987|224399|229825|229826|229827|229828|229829|229830|229832|229833|229834|229835|229836|229838|229839|229840|229841|229843|229844|240833|240834|240835|240836|240837|240838|258645|258648|258649|258650|258651|258659|362377|370816|370822|370841|371365|371375|371377|371382|371385|371746|371751|371758|373451|397377|397379|397389|397565|397573|397904|397911|397917|404789|407877|425882|425883|425883|444625|460054|460057|460061|460061|460062|460064|460068|460077|460081|460085|460087|460092|460094|460096|460183|460189|460198|460199|460202|460203|460208|460211|460214|460216|460467|460469|460477|460926|460929|460930|460932|460934|481132|497142|497142|502848|503260|503389|508853|508854|510193|510194|510196|510201|510204|510205|510207|510211|510212|510214|510217|512840|512841|512918|512919|525281|525301|525304|525309|525314|525325|525336|525399|525404|525414|525417|525422|525425|525431|525517|525731|525733|525739|525740|525753|525757|525759|525764|525765|525768|525770|536795|563509|563872|563874|563876|563876|563886|563890|563892|563895|563896|564682|564689|564692|564694|564696|564702|564703|566393|566396|566404|566409|566422|566429|566435|566438|566439|569735|569737|569738|569739|576333|639063|639064|639065|639066|639067|639068|639069|639070|639071|639072|639073|639074|639075|639076|639077|639078|639079|639080|639081|639082|639083|639084|639085|639086|639087|639088|639089|639090|639091|639092|639093|639094|639095|639096|639097|639098|639099|639100|652018|679446|687661|687663|689985|692877|692879|692881|692883|695484|737555|752185|767869|783661|787651|796436|820231|837098|837099|837100|837101|837102|837103|837104|837105|837106|837107|837108|837109|837110|837111|837112|837113|837114|837115|837116|837117|837118|837119|837120|837121|837122|837123|837124|837125|837126|837127|837128|837129|837130|837131|837132|837133|837134|837135|837136|837137|837138|837139|837140|837141|837142|837143|837144|837145|851377|851784|859804|920284|925888|925889|925890|925891|925892|925893|925894|925895|925896|925897|925898|935127|935128|935129|935130|935131|935132|935133|940174|940175|940963|946996|946997|946998|946999|947000|947001|947002|947003|947004|947005|947006|956137|956138|959940", + "text": "Dilated cardiomyopathy 1KK" + }, + { + "baseId": "40451|40471", + "text": "Familial hypertrophic cardiomyopathy 22" + }, + { + "baseId": "40476", + "text": "Cardiomyopathy, familial restrictive, 4" + }, + { + "baseId": "40515|45542|101012|101032|136049|196119|282776|282777|282793|284391|284405|284470|284584|284625|284664|320441|320444|329225|335831|335850|349393|350403", + "text": "Nemaline Myopathy, Recessive" + }, + { + "baseId": "40530|40531|40532|254103|271555|313489|313519|313534|313535|313536|313543|313546|319683|319725|319726|319733|319734|319735|319749|319750|319756|325831|325853|325854|325896|325916|325917|325922|326878", + "text": "Arthrogryposis multiplex congenita distal" + }, + { + "baseId": "40542|40561|52584|52590", + "text": "Left ventricular noncompaction 9" + }, + { + "baseId": "40564|496632", + "text": "Ectodermal dysplasia" + }, + { + "baseId": "40566|40567|361219|361220", + "text": "Hamamy syndrome" + }, + { + "baseId": "40587", + "text": "rosuvastatin response - Other" + }, + { + "baseId": "40587", + "text": "pravastatin response - Metabolism/PK" + }, + { + "baseId": "40587|227779|227780", + "text": "simvastatin response - Toxicity/ADR" + }, + { + "baseId": "40587", + "text": "cerivastatin response - Toxicity/ADR" + }, + { + "baseId": "40587", + "text": "hmg coa reductase inhibitors response - Toxicity/ADR, Metabolism/PK" + }, + { + "baseId": "40587", + "text": "simvastatin acid response - Metabolism/PK" + }, + { + "baseId": "40594", + "text": "Systemic lupus erythematosus 11" + }, + { + "baseId": "40602|227142|227143|227144|227145|446596|816500|971194", + "text": "Autism, susceptibility to, X-linked 6" + }, + { + "baseId": "40607|166050|166051|471610", + "text": "Anemia without thromobocytopenia, X-linked" + }, + { + "baseId": "40611|40612|40613|40614|44204|44205|44206|44207|44290|44291|44293|44295|44296|44297|44298|44300|54551|54552|54553|54555|54557|54558|54559|54564|54566|54569|54570|54572|54574|54576|54577|54579|54586|175402|175404|175406|175551|175845|189894|189903|198377|241532|316673|316674|316678|316679|316681|324150|324151|324153|324154|324155|324156|330167|330171|330174|330176|330194|331585|331595|353904|398886|503771|503799|504818|510363|527279|535704|536836|653882|839791|869669|869670|869671|869672|869673|869674|869675|872228|961525|961868", + "text": "Hypertrichotic osteochondrodysplasia Cantu type" + }, + { + "baseId": "40611|263191|263207|263209|263227|263233|263268|263298|263312|514064|514065|514174|514200|615872|672319", + "text": "15 conditions" + }, + { + "baseId": "44117", + "text": "OBESITY (BMIQ17), SUSCEPTIBILITY TO" + }, + { + "baseId": "44118|44119|246872|389359|433459|433460|433461|433462|442703|447475|447477|447478|447585|447599|447605|447607|447727|447761|515419|515424|515433|515434|515436|515437|515439|515451|515453|515454|515519|515523|515526|515528|515531|515534|515537|537111|556772|556774|556776|556776|556778|556780|556845|556846|556850|557133|557135|557137|557139|557141|557143|558335|558337|558339|558341|614205|626103|627320|627321|627322|627323|627324|627325|627326|627327|627328|627329|627330|627331|627332|627333|627334|627335|627336|627336|627337|627338|627339|627340|627341|627342|627343|627344|627345|707036|707037|707040|707042|707044|718578|718579|732055|732056|732057|732058|732059|746027|746028|746029|746030|746031|746032|761493|761496|774433|774441|777083|778804|780462|780463|787023|794552|799151|823276|823277|823278|823279|823280|823281|823282|823283|823284|823285|823286|823287|823288|823289|823290|823291|823292|823293|823294|823295|823296|823297|823298|823299|823300|850739|851269|921208|921818|921819|921820|921821|921822|921823|921824|921825|921826|921827|921828|930254|930255|930256|930257|930258|930259|930260|930261|930262|930263|930264|930265|930266|940615|941670|941671|941672|941673|941674|941675|941676|941677|941678|941679|941680|941681|941682|952223|952224|952225|952226|952227|952228|952229|952230|960418|980442", + "text": "Common variable immunodeficiency 7" + }, + { + "baseId": 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+ "text": "Common variable immunodeficiency 8, with autoimmunity" + }, + { + "baseId": "44124|44125|168580|168581|207499|207500|207502|213578|253018|359708|421648|428756|444199|457137|457148|457770|458145|458147|512830|513820|513821|523218|535385|550662|579320|579324|611689|692340|700358|750884|779458|790773|790774|798596|798597|805086|819935|834042|834043|855082|855083|855084|945823|961517|964297|969523|970871|980602", + "text": "Cornelia de Lange syndrome 4" + }, + { + "baseId": "44139|48175|48176|48717|48718|102593|102594|185943|206603|206604|206605|206606|206607|206608|206609|207534|244515|244516|244518|253078|359894|369436|369440|369860|369863|369865|370181|370184|370186|371716|407346|457430|457431|458042|458053|458094|458096|458099|458101|458390|458391|458393|458407|502305|502669|508749|509042|523217|523227|523228|523233|523234|523237|523489|523490|523496|523704|523705|523707|523710|523711|523720|523742|523747|539010|540451|540452|562067|562069|562071|562077|562080|562085|562086|562088|562092|562515|564815|564818|564824|564829|564831|564837|567513|567515|567518|567525|567530|567533|636787|636788|636789|636790|636791|636792|636793|636794|636795|636796|636797|636798|636799|636800|636801|636802|636803|651785|692444|692445|692447|692448|700478|700480|700481|722938|722940|766634|783038|819950|819951|834299|834300|834301|834302|834303|834304|834305|834306|834307|834308|834309|834310|834311|834312|834313|834314|834315|851185|918139|925070|925071|925072|925073|925074|925075|925076|925077|934162|934163|934164|934165|945916|945917|945918|945919|945920|945921|945922|955343|955344|967121", + "text": "Brown-Vialetto-Van Laere syndrome 2" + }, + { + "baseId": "44165|275828|496561", + "text": "GPSM2-Related Disorders" + }, + { + "baseId": "44168|44169|81402|94578|94579|141978|141979|141980|141981|239947|239948|239949|239950|239951|239952|395197|395204|395422|395424|395561|395566|395844|395848|395856|438739|455895|456309|456318|481128|481129|481418|481419|481420|481421|522145|522480|538389|560951|560955|560961|560963|560967|565836|626167|626310|635130|635131|635132|635133|635134|635135|635136|635137|651504|651594|686906|692036|798579|819746|832337|832338|832339|832340|832341|832342|832343|832344|832345|832346|852030|852296|919054|924441|924442|924443|933452|933453|933454|945170|945171|954877|954878|983820|983821", + "text": "Combined oxidative phosphorylation deficiency 10" + }, + { + "baseId": "44169|171703|496850|497470|497668", + "text": "Mitochondrial oxidative phosphorylation disorder" + }, + { + "baseId": "44177", + "text": "Piebaldism, progressive" + }, + { + "baseId": "44188|44189|44190|132010", + "text": "Digital arthropathy-brachydactyly, familial" + }, + { + "baseId": "44191|134566|540456|792623", + "text": "Friedreich ataxia 1" + }, + { + "baseId": "44194|207048|227252|363976|966033", + "text": "Seckel syndrome 6" + }, + { + "baseId": "44195|44196|44197|44198|293686|295081|295101|298722|298726|298727|367643|453965|691595|891877|891878|891879|891880|891881|891882|891883|891887|891888|891889|953826", + "text": "Congenital disorder of glycosylation type 2k" + }, + { + "baseId": "44199|44200|44201|44202|44203|136352|190151|241125|248650|398572|461806|977247", + "text": "Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies" + }, + { + "baseId": "44209|44210|44211|44212|44213|44214|215092|260546|260549|260550|260551|691863|788780|918968|920211", + "text": "Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency" + }, + { + "baseId": "44215|44216|178804|178805|313526|362358|552122|552123|651777|800721|800727|800730|800740|800741|800744|861672", + "text": "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome" + }, + { + "baseId": "44215", + "text": "ASAH1-related disorders" + }, + { + "baseId": "44227", + "text": "NEVUS SPILUS, SOMATIC" + }, + { + "baseId": "44227", + "text": "SPITZ NEVUS, SOMATIC" + }, + { + "baseId": "44228", + "text": "Basal cell carcinoma, susceptibility to, 7" + }, + { + "baseId": "44229|44231|44232|125792|142794|142800|205195|211206|211211|211213|211216|211217|368488|368796|368996|368997|370267|370285|423256|423258|439862|481460|501650|501894|522153|560640|563459|578651|578657|584196|612352|634748|634749|634750|677424|710285|721839|735501|765571|792756|831727|831728|831729|831730|831731|831732|852020|852254|857617|904230|933241|944948|954404|970214", + "text": "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome" + }, + { + "baseId": "44234|44235|481415", + "text": "Mitochondrial pyruvate carrier deficiency" + }, + { + "baseId": "44236|486704|486705|622916", + "text": "Hereditary congenital facial paresis 3" + }, + { + "baseId": "44237|44238|44239|204980|205785|205786|508887|983457", + "text": "Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital" + }, + { + "baseId": "44240|44241|44242|79667|79668|79668|79669|79670|79671|79672|79673|79675|79677|410301|438057|467673|467685|467691|467695|467701|468580|468584|468585|468588|468597|469031|469034|469041|469042|469045|469053|469055|469057|469061|469337|469338|469341|469344|469347|469349|469351|469368|469371|531963|531969|531977|531981|531984|531988|531990|531991|531993|531995|531999|532001|532003|532005|532007|532013|532061|532070|532070|532072|532074|532077|532087|532351|532359|532364|532366|532372|532382|569895|569900|569903|569904|569905|569923|569924|571737|571738|571739|571741|571742|571746|572413|572416|572420|572425|574676|574677|574678|574679|574680|574681|574682|646915|646916|646917|646918|646919|646920|646921|646922|646923|646924|646925|646926|646927|646928|646929|646930|646931|646932|646933|646934|646935|646936|646937|646938|646939|646940|646941|646942|646943|646944|646945|646946|646947|646948|646949|646950|646951|646952|646953|646954|646955|646956|646957|646958|646959|652865|652869|715783|727500|727501|727502|727503|727504|741113|741114|741115|741116|741117|741118|741119|745351|756210|756211|756212|756213|771921|771922|771923|771929|771931|771932|776563|779985|785795|785796|797620|846450|846451|846452|846453|846454|846455|846456|846457|846458|846459|846460|846461|846462|846463|846464|846465|846466|846467|846468|846469|846470|846471|846472|846473|846474|846475|846476|846477|846478|846479|846480|846481|846482|846483|846484|846485|846486|852802|928600|928601|928602|928603|928604|928605|928606|928607|928608|928609|938305|938306|938307|938308|938309|938310|938311|938312|938313|938314|938315|940445|950376|950377|950378|950379|950380|950381|950382|950383|950384|958378|958379|958380|958381|958382|958383|960254", + "text": "Pityriasis rubra pilaris" + }, + { + "baseId": "44243|44244|44245|44246|44247|626010|626011", + "text": "John Milton Hagen blood group system" + }, + { + "baseId": "44263", + "text": "Distal hereditary motor neuronopathy type 5B" + }, + { + "baseId": "44264|44265|44266|195762|195763|215400|253539|253540|253541|253542|253543|253545|253546|270363|308277|312667|312668|312675|312676|312677|312679|318573|318576|318582|318584|318590|319104|319106|319107|319110|319113|359934|359936|370379|370393|370401|370405|370411|370414|370423|370893|370911|370920|371240|371248|371251|371267|372984|373011|373013|373014|373031|407693|407694|407697|407698|421755|421757|425847|434630|444480|444481|444482|444483|444485|458117|459163|459171|459172|459185|459187|459189|459489|459494|459497|459498|459503|459506|459507|459564|459565|459566|459567|459571|459576|459578|459588|460044|460045|460047|460049|460050|460056|460059|502932|503122|503145|503394|524572|524574|524579|524592|524596|524832|524836|524838|524958|524962|524965|525118|525120|525122|536775|563234|563235|563239|563243|563244|563248|563249|563252|563975|563981|563996|563997|564005|564008|564013|564014|565891|565899|565900|565902|568290|569036|569042|569044|569048|569049|569050|569056|569059|569060|569068|576132|611719|614344|614345|620330|638235|638236|638237|638238|638239|638240|638241|638242|638243|638244|638245|638246|638247|638248|638249|638250|638251|638252|638253|638254|638255|638256|638257|638258|638259|638260|638261|638262|638263|638264|638265|638266|638267|638268|638269|638270|638271|638272|638273|638274|638275|638276|638277|638278|677978|682630|711956|723560|737123|737124|751693|751695|767399|836101|836102|836103|836104|836105|836106|836107|836108|836109|836110|836111|836112|836113|836114|836115|836116|836117|836118|836119|836120|836121|836122|836123|836124|836125|836126|836127|836128|836129|836130|901993|901994|901995|901996|901997|901998|901999|902000|902001|902002|902003|902004|902005|902006|902007|902008|919229|925573|925574|925575|925576|925577|925578|925579|925580|925581|925582|925583|925584|925585|925586|925587|934754|934755|934756|934757|934758|934759|934760|934761|934762|934763|946606|946607|946608|946609|946610|946611|946612|946613|946614|946615|946616|946617|946618|946619|946620|946621|946622|946623|946624|946625|946626|946627|946628|946629|946630|955818|955819|955820|955821|955822|955823|955824|955825|955826|972723|972724|977239|977240", + "text": "Hyperphosphatasia with mental retardation syndrome 2" + }, + { + "baseId": "44274|45135|136967|244232|263179|263213|263236|263381|263385|263413|377390|514008|514009|514060|590042|590043|590090|801222|962913", + "text": "12 conditions" + }, + { + "baseId": "44309|44625|44626|44627|44628|44629|45278|45279|45281|45282|45283|45285|45287|45288|107214|197402|197785|209442|210277|259943|397515|414860|539730|611797|621103|621523|621713|906046", + "text": "Familial aortopathy" + }, + { + "baseId": "44359|254603|254604|254605|254606|317483|317493|317494|317499|317501|317502|317504|317508|317510|317511|317513|317514|317515|317520|317522|317523|317525|317526|317534|317540|317541|317543|325345|325347|325349|325364|325371|325375|325376|325379|331604|331608|331612|331613|331615|333072|333076|333080|333081|333084|333088|333101|333111|333114|422801|434768|620444|725136|725138|738689|753440|769168|769169|816507|869980|869981|869982|869983|869984|869985|869986|869987|869988|869989|869990|869991|869992|869993|869994|869995|869996|869997|869998|869999|870000|870001|870002|870003|870004|870005|870006|870007|870008|870009|870010|870011|870012|870013|870014|870015|870016|870017|870018|870019|870020|872251|872252|962731", + "text": "Nephrogenic diabetes insipidus, autosomal" + }, + { + "baseId": "44478|917573", + "text": "Hyperimmunoglobulin M syndrome" + }, + { + "baseId": "44503", + "text": "Abnormality of the pancreas" + }, + { + "baseId": "44531|54320|212669|221599|256485|263269|263407|314659|314694|327517|328543|457637|481525|800839|800971|800972|800973|857358|858674|858675|858676|858677|858680|858681|858682|858683|858684|858687|858688|858689|858690|966128|966129|966130|966131|966132|966133|966134|966135|966136|966137|966138|966139|984045", + "text": "Male infertility" + }, + { + "baseId": "44665|44666|44667|45110|45111|45112|51095|53044|53047|53048|53049|53400|53401|53409|53410|53412|53419|53422|53425|53429|53430|53432|53438|53439|53440|53952|54696|101340|141809|173494|173631|175036|177852|195708|195709|198108|198236|229942|265307|265509|267704|267980|273196|284791|284792|284793|285474|285481|285482|287689|287699|287976|295481|295485|295486|295488|297261|297264|297267|297276|301110|301111|301112|301113|301277|302297|302312|302314|302318|302323|302325|302328|302331|302334|305507|305508|305522|305535|310338|310339|310367|310369|310440|310446|310467|310473|310479|310480|311447|311448|311449|312347|312348|312350|314358|314360|314364|317037|317039|317040|317041|317042|318236|320397|320409|323019|323021|323578|323593|323602|323607|323616|325066|353560", + "text": "Myofibrillar Myopathy, Dominant" + }, + { + "baseId": "44674|54130|54804|55576|56375", + "text": "Systolic heart failure" + }, + { + "baseId": "44729", + "text": "FNB1 POLYMORPHISM" + }, + { + "baseId": "44740|51466|51525|171178|197619|258907|262311|262312|262313|362492|362493|433137|511551|609191|609192|609193|609194|609197|609198|609199|609200|609231|609232|609233|609234|609235|609236", + "text": "Acute aortic dissection" + }, + { + "baseId": "44866|44870|44872|44877|44886|44899|44906|134593|207485|252883|252884|302335|303069|303070|303071|303072|303073|303074|306341|306342|306345|306346|306347|306348|311169|311170|311172|311173|311302|311303|311306|311310|311312|428735|428737|428738|441126|759683|898116|898117|898118|898119|898120|898121|898122|898123|898124|898125|898126|898127|898128|898129|898130|898131|898132|898133|898134|900365|900366|900367|900368", + "text": "Transient Neonatal Diabetes, Recessive" + }, + { + "baseId": "44922|134586|134590|134591|134592", + "text": "Gestational diabetes" + }, + { + "baseId": "44937|44938|44939|44940", + "text": "Idiopathic growth hormone deficiency" + }, + { + "baseId": "44974", + "text": "Beta-thalassemia, lermontov type" + }, + { + "baseId": "45009|165951|165951|165951|577852|677318|791984|816509|919914", + "text": "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young" + }, + { + "baseId": "45028|165951|360928", + "text": "Hyperinsulinemia" + }, + { + "baseId": "45034|45036|45037|45038|45039|45040", + "text": "Interferon gamma receptor deficiency" + }, + { + "baseId": "45062|134725|254105|254106|254108|313620|313624|313632|319803|319804|319810|319823|319825|319828|325998|326005|326977|326978|326979|326982|326983|737916|867734|868641", + "text": "Transient Neonatal Diabetes, Dominant/Recessive" + }, + { + "baseId": "45092|77991|78500|78501|78942", + "text": "Torsades de pointes" + }, + { + "baseId": "45132|141819|250744|250745|250746|286691|286693|286694|286696|286697|286699|286700|286702|287404|287405|287406|287407|287408|287411|287412|287413|289835|289853|289854|289855|289856|289857|289858|289860|290209|290210|290213|290214|290216|802093", + "text": "Hypergonadotropic hypogonadism" + }, + { + "baseId": "45135|77752", + "text": "Heart-hand syndrome, Slovenian type" + }, + { + "baseId": "45181|45186|50293|50294|102143|102146|102147|139878|139881|171148|171149|186157|186158|197521|212930|212936|212945|241193|254243|314528|314532|314540|314541|314543|314544|314549|314551|314552|321246|321250|321251|327382|327388|327389|327391|327398|327399|327400|328432|328438|328439|328445|328454|328456|328457|398322|398877|476473|806433|868255|868256|868257|868258|868259|868260|868261|868262|868263", + "text": "Hyperparathyroidism" + }, + { + "baseId": "45234|394626", + "text": "Malignant tumor of ascending colon" + }, + { + "baseId": "45287|101110|135555|142037|142040|142041|142042|142043|142045|142046|142050|142053|142060|194229|194230|197842|197852|197854|197875|197877|197879|255472|258971|265689|301318|301348|301371|304551|304556|304557|304558|309178|309179|309186|309190|309265|309277|309305|324371|324392|324398|324399|324400|324401|324406|324408|324411|324412|324414|324420|324429|324430|324437|324455|324464|324466|324467|333924|333925|333941|333944|333947|333948|333949|333951|333954|333965|333966|333972|333975|333980|333982|333983|333984|333987|340666|340676|340690|340695|340696|340703|340704|340706|340709|340721|340722|340727|340730|340731|342066|342077|342109|342111|342118|342121|342125|342130|342138|342139|342141|342151|342155|342156|342160|342168", + "text": "Lissencephaly, Recessive" + }, + { + "baseId": "45290|45320|53666|175563|178504|263260|320355|322278|322281|322290|322292|322305|322315|322319|322320|322321|328966|331578|331581|331583|331587|331597|331610|331619|331628|331630|331646|335616|335619|335627|335628|337435|338527|338558|338582|338583|338588|338608|338610|338614|338623|340274|340279|340282|340299|340308|340311|340314|340316|340327|340328|340329|340336|340337|389561|513956|513978|514135|805068|805119", + "text": "Atrial septal defect" + }, + { + "baseId": "45321", + "text": "Atrial septal defect-atrioventricular conduction defects syndrome" + }, + { + "baseId": "45358", + "text": "PRKAG2 cardiac syndrome" + }, + { + "baseId": "45375|269282|620400", + "text": "RAG1-Related Disorders" + }, + { + "baseId": "45377|45379|408345|488105|488117", + "text": "Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency" + }, + { + "baseId": "45426|178601", + "text": "Pulmonary valve stenosis (rare)" + }, + { + "baseId": "45429|239836", + "text": "Paraganglioma" + }, + { + "baseId": "45432|45433|52528|57274|57275|57276|57277|57278|57279|57280|57281|57284|57289|174409|174410|174412|193416|198172|296515|296516|296528|296529|296535|296537|296543|296544|296547|296549|296550|296551|296552|296559|296560|296561|296562|296565|296566|296570|296571|296573|296574|296576|296581|296584|296585|296589|296597|296598|296602|296603|296607|296618|296619|296624|298425|298426|298435|298442|298448|298449|298456|298457|298459|298460|298461|298462|298471|298472|298473|298477|298479|298480|298481|298482|298483|298487|298488|298489|298490|302528|302530|302531|302540|302541|302542|302543|302562|302564|302565|302566|302582|302583|302596|302597|302598|302599|302602|302603|302604|302605|302606|302607|302625|302802|302803|302804|302806|302807|302814|302815|302816|302817|302820|302821|302822|302823|302824|302825|302826|302827|302828|302829|302830|302831|302832|302833|302834|302836|302839|302876|302882|302886|302887|302903|302904|302905|302906|302909|302910|302911|302912|302913|302914|368457|454842|501223|893644|893645|893646|893647|893648|893649|893650|893651|893652|893653|893654|893655|893656|893657|893658|893659|893660|893661|893662|893663|893664|893665|893666|893667|893668|893669|893670|893671|893672|893673|893674|893675|893676|893677|893678|893679|893680|893681|893682|893683|893684|893685|893686|893687|893688|893689|893690|893691|893692|893693|893694|893695|893696|893697|893698|893699|893700|893701|893702|893703|893704|893705|893706|893707|893708|893709|896067", + "text": "Qualitative or quantitative defects of delta-sarcoglycan" + }, + { + "baseId": "45445|153769|153770|153771|226683|226684|226685|226686|226687|226688|226689|226690|505914|537283|920371|961975|964480|965234", + "text": "Autoimmune disease, multisystem, infantile-onset, 1" + }, + { + "baseId": "45523|360895|360980|467795|514126|536138|536151|536160|536186|536187|678119", + "text": "Dilatation" + }, + { + "baseId": "45523|360895|551447|551448|551449|551450|551451|551452|551453|551454|551455|551456|551457|551458", + "text": "Dilatation of ascending aorta" + }, + { + "baseId": "45589", + "text": "Epilepsy, progressive myoclonic, 3, with intracellular inclusions" + }, + { + "baseId": "45612|267428|459890|459893|692773|692774|701198|701199|751971|836650", + "text": "Microphthalmia, syndromic 11" + }, + { + "baseId": "45613|45623|45624|97522|195940|205311|205791|379288|424668|446035|469909|488161|533138|550636|572021|572231|572931|611430|647719|647720|647721|647722|653449|694334|694335|704762|704763|716186|821239|822156|847322|847323|847324|917291|917553|941225|958545|964504|964886|971113", + "text": "Sotos syndrome 2" + }, + { + "baseId": "45613|45614|45615|45616|45617|45618|45619|45620|45621|45622|195940|205311|205311|208537|208538|379288|430127|469909|480574|533138|572021|572231|572931|611430|612165|647719|647720|647721|647722|653449|679805|679863|694334|694335|704762|704763|716186|791898|791899|791900|821239|822156|847322|847323|847324|855085|855086|855087|919823|919824|919825|941225|958545", + "text": "Marshall-Smith syndrome" + }, + { + "baseId": "45627|45628|192146|196059|230343|240659|254710|254711|254712|254713|254714|257184|260034|267190|318341|318346|318347|318351|326407|326412|326414|326431|326433|326437|326441|326442|326445|326457|326463|326465|326468|326472|332708|332712|332713|332714|332722|332730|332734|334311|334327|334331|334333|334334|334336|334340|334345|334347|334348|373254|389156|488858|769292|776114|788076|870341|870342|870343|870344|870345|870346|870347|870348|870349|870350|870351|870352|870353|870354|870355|870356|870357|870358|870359|870360|870361|870362|870363|870364|870365|870366|870367|870368|870369|872285|872286|919467|962989|962990|962991|962992|962993|962994|962995|962996|962997|962998|962999|963000|963001|963002", + "text": "Fraser syndrome 3" + }, + { + "baseId": "45631|45632", + "text": "Uric acid concentration, serum, quantitative trait locus 4" + }, + { + "baseId": "45672|45673|45674|213522|247397|424639|550582|551280|590570|590571|590572|590573|590574|590575|590576|622314|678058|707518|789998|918649|918650|918651|918652|920153|920154|961253|961588|964804|969701|970518|972710|976643", + "text": "Cerebellar ataxia, nonprogressive, with mental retardation" + }, + { + "baseId": "45680|205070|256668|256669|256671|256672|256675|256678|256679|256680|469786|532291|532304|647286|647287|704617|704618|704619|950536|950537|950538|950539|958474", + "text": "Heterotaxy, visceral, 6, autosomal" + }, + { + "baseId": "45690|508946|508947", + "text": "Mental retardation, X-linked, syndromic, martin-probst type" + }, + { + "baseId": "45707|47507|47508|207990|578658|581209", + "text": "Dentatorubral-pallidoluysian atrophy" + }, + { + "baseId": "45720|45721|45722|45723", + "text": "Amyotrophic lateral sclerosis 18" + }, + { + "baseId": "45724|213624", + "text": "Multiple sclerosis, susceptibility to, 5" + }, + { + "baseId": "45726|48099|181401|181460|202291|205386|361063|361064|361073|361074|361075|361076|801217", + "text": "Neurodegeneration" + }, + { + "baseId": "45728|200974|259235|424188|424189|425207|425208|513512|613401|861670|963435|964991", + "text": "Short stature, optic nerve atrophy, and Pelger-Huet anomaly" + }, + { + "baseId": "45733|45734|514235|514236|514237", + "text": "Adams-Oliver syndrome 3" + }, + { + "baseId": "45735", + "text": "Macroglobulinemia, waldenstrom, somatic" + }, + { + "baseId": "45736|45737|45738|45739|45740|136024|136025|205165|207805|207806|214308|253957|253958|371008|371651|373633|460703|491337|502973|502978|502979|503869|525534|525632|525633|639327|639328|639329|724132|804670|919309|925987|935259", + "text": "Orofacial-digital syndrome IV" + }, + { + "baseId": "45741|136024|136025|207805|207806|214308|214308|253957|253958|371008|371651|373633|460703|491337|502973|502978|502979|503869|525534|525632|525633|639327|639328|639329|724132|925987|935259", + "text": "Joubert syndrome 18" + }, + { + "baseId": "45742|45743|578423|612267|653861|984049|984050", + "text": "Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis" + }, + { + "baseId": "45742", + "text": "Primordial dwarfism" + }, + { + "baseId": "45747|45748|45749|45750|45751|168851|168852|168854|168858|168859|178382|178384|178386|189077|205767|207816|207817|213605|213606|213607|213608|264585|359911|361201|362433|362437|362438|362442|364273|408285|421828|424353|424489|424701|425906|429172|429173|429174|434105|439883|444733|481237|495699|513312|513437|513719|513720|514622|552149|553178|553179|611405|653878|653879|677432|678941|682816|791103|791104|791105|791106|791107|791108|791109|791110|791111|791112|791113|798636|798637|805092|805093|805094|815992|816523|861636|903575|919320|919321|919322|963156|963718|963721|964355|969778|969783|969790|970928|970929|977245|983850", + "text": "Wiedemann-Steiner syndrome" + }, + { + "baseId": "45756|45759|101173|143120|143121|143122|143123|190474|191228|191383|191385|191386|191387|191390|191391|191392|191393|191394|195689|195690|195977|223606|237012|250117|250119|250120|250130|250131|250133|250135|250138|266450|266537|266975|271804|271885|282377|282381|282384|283817|283821|283844|283873|284081|284088|437660|448555|448667|448763|511313|513019|516361|558707|559192|559194|587219|587220|628420|628421|628422|628423|690714|690715|690718|690719|690724|690725|690728|696993|696994|696997|707697|707699|719215|719216|719218|746754|805075|824722|824723|824724|922230|942218|962151|964162|964163|969600|970706|970707", + "text": "Culler-Jones syndrome" + }, + { + "baseId": "45764|45764|106771|166216|231596|244402|367075|367077|367117|367118|368056|368060|451581|451583|451592|451831|451844|451847|451907|452000|452055|452067|518716|518852|518860|518870|518884|518886|518895|518896|518898|558720|559241|559243|559245|561066|561068|562204|562205|562209|630682|630683|630684|630685|630686|630687|630688|630689|630690|630691|630692|630693|672045|691246|691248|691249|695166|708436|720041|747851|747852|747853|747854|763489|781497|827219|827220|827221|827223|827224|827225|827226|827227|827229|827231|827232|827233|827234|922968|922969|922971|931658|931659|931660|943209|943210|943211|943212", + "text": "Hereditary motor and sensory neuropathy, Okinawa type" + }, + { + "baseId": "45764|106771|106771|231596|244402|367075|367077|367117|367118|368056|368060|451581|451583|451592|451831|451844|451847|451907|452000|452055|452067|518716|518852|518860|518870|518884|518886|518895|518896|518898|558720|559241|559243|559245|561066|561068|562204|562205|562209|630682|630683|630684|630685|630686|630687|630688|630689|630690|630691|630692|630693|672045|691246|691248|691249|695166|708436|720041|747851|747852|747853|747854|763489|781497|827219|827220|827221|827223|827224|827225|827226|827227|827229|827231|827232|827233|827234|922968|922969|922971|931658|931659|931660|943209|943210|943211|943212", + "text": "Spastic paraplegia 57, autosomal recessive" + }, + { + "baseId": "45764", + "text": "Amyotrophic Lateral Sclerosis with Sensory Neuropathy" + }, + { + "baseId": "45766|134078|134079|134081|134082|134083|255861|255865|260126|409731|429842|429843|441920|441921|441922|441923|441925|441926|465942|465943|465947|465949|465950|465954|465960|465966|466677|466682|466683|466687|466688|466691|466716|466731|466737|466740|466744|466756|466976|466979|466982|466983|466989|495804|530223|530224|530226|530290|530294|530300|530308|530524|530526|530528|530529|530746|530747|530749|568298|568299|568303|568304|570428|570429|570433|570437|570439|570441|570445|570448|570451|570520|570521|570522|570525|570528|574151|574154|574155|574158|574160|574163|622511|644952|644953|644954|644955|644956|644957|644958|644959|644960|644961|644962|644963|644964|644965|644966|644967|653306|693925|693926|693927|693928|693930|695706|703802|755380|771057|785380|788902|793646|797376|820871|844273|844274|844275|844276|844277|844278|844279|844280|844281|851677|927931|927932|927933|927934|927935|927936|927937|927938|927939|927940|937593|937594|937595|949550|949551|957867|957868|957869", + "text": "Myopathy, centronuclear, 4" + }, + { + "baseId": "45768|132462|330533|330576|480523|480524|480525|480525|480526|714238|816325|961655", + "text": "Weill-Marchesani syndrome 3" + }, + { + "baseId": "45769|45770|45771|45772|45774|45775|45776|360222|430984|430985|611371|961966|963365", + "text": "Interstitial nephritis, karyomegalic" + }, + { + "baseId": "45777", + "text": "Tetraparesis" + }, + { + "baseId": "45777|45778|514099", + "text": "Oculogyric crisis" + }, + { + "baseId": "45777", + "text": "ATP1A3-Related Disorders" + }, + { + "baseId": "45783|45784|45785", + "text": "Spermatogenic failure 10" + }, + { + "baseId": "45790|222256|359092|359093|359094|919461|970971", + "text": "Myoclonus, intractable, neonatal" + }, + { + "baseId": "45793|45794|45795|45796|45797|45799|45800|45801|188783|192536|259687|446968|448403|448406|512890|623249|690681|780786|780787|799233|819007|819008|824565|824566|856129|858981|922181|922182|930717|942154|942155|952563|952564|952565|966364|966365|966366|966367|966368|966369|966370|966371|966372|966373|966374|966375|966376|966377|966378|966379|966380|966381|966382|966383|966384|966385|966386|966387|966388", + "text": "Leber congenital amaurosis 9" + }, + { + "baseId": "45805|181576|190296|275014|677158", + "text": "Osteogenesis imperfecta type 5" + }, + { + "baseId": "45816|79738|430082", + "text": "MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES" + }, + { + "baseId": "45817|45818|45819|134660|166227|207075|251131|251132|251134|251135|251136|251137|364234|367236|367239|367242|367555|367581|368606|406306|425561|428182|428183|428185|428186|428187|443458|452416|452423|452426|452614|452617|452634|452637|452723|452734|452736|452954|452958|452968|452980|490206|500267|500744|518705|519296|519299|519301|519303|519304|519345|519351|519494|519497|519500|519548|519550|519552|535700|559000|559002|559004|559515|559517|559519|561573|561575|561586|561587|561593|561596|561598|562965|562967|631425|631426|631427|631428|631429|631430|631431|631432|631433|631434|631435|631436|631437|631438|631439|631440|631441|631442|631443|631444|631445|631446|631447|691415|691417|691418|691419|691420|698094|698095|708859|720445|734065|748265|748266|790395|828163|828164|828165|828166|828167|828168|828169|828170|828171|828172|828173|828174|828175|828176|828177|828178|828179|923210|923211|923212|923213|923214|923215|923216|931955|931956|931957|931958|931959|931960|943563|943564|943565|943566|953485|953486|953487|953488|953489|953490", + "text": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8" + }, + { + "baseId": "45821|45822|45823|45824|45825", + "text": "Amelogenesis imperfecta, hypomaturation type IIA4" + }, + { + "baseId": "45829|305423|305427|305429|305430|305431|305435|305436|305442|305451|305457|305464|305466|305467|305469|305470|305471|305474|305475|309317|309318|309319|309320|309322|309323|309324|309326|309327|309332|309334|309336|309337|309340|309347|309350|309351|314561|314562|314563|314574|314578|314588|314593|314600|314607|314609|314613|314626|314627|314636|314637|314638|314639|314644|314645|314646|314648|314649|314651|314652|314657|314661|314662|314666|314669|314670|314680|314682|512834|614322|614323|620300|700601|723131|730581|730582|766857|899697|899698|899699|899700|899701|899702|899703|899704|899705|899706|899707|899708|899709|899710|899711|899712|899713|899714|899715|899716|899717|899718|899719|899720|899721|899722|899723|899724|899725|899726|899727|899728|899729|899730|899731|899732|899733|899734|899735|900504|900505|900506|900507|919159|980462", + "text": "Natural killer cell and glucocorticoid deficiency with DNA repair defect" + }, + { + "baseId": "45831|227915|278238|390510|513500|970669", + "text": "CFHR5 deficiency" + }, + { + "baseId": "45838", + "text": "Achromatopsia 6" + }, + { + "baseId": "45838", + "text": "PDE6H-Related Disorders" + }, + { + "baseId": "45845|48309|48310|48311|48312|48313|97521|170174|170176|170177|170178|205706|209171|209172|209173|209174|213672|225805|265124|353914|361252|423089|426754|439701|472203|513841|513842|513843|513844|534365|535678|551800|575447|575511|612125|677475|694933|786903|788953|792498|792499|852985|857661|917373|920062|920063|964002|975723", + "text": "Cornelia de Lange syndrome 5" + }, + { + "baseId": "45854|247093|463047|463533|464015|464019|527838|527962|528419|528425|528428|566240|566244|568711|568713|568714|572680|642123|642124|642125|642126|642127|652449|652850|714005|714006|725569|739130|760293|769679|769680|775973|779701|841078|841079|841080|841081|841082|841083|841084|841085|841086|841087|841088|841089|841090|852727|926967|936519|936520|936521|936522|936523|936524|957156", + "text": "Herpes simplex encephalitis, susceptibility to, 3" + }, + { + "baseId": "45855|45856|468928|468929|469923|470355|470359|471047|486803|533088|533094|533095|533181|533185|533190|533195|533197|533200|533205|533208|533614|533617|533618|570875|570877|570881|570886|572559|572561|572563|572566|572568|573193|573198|573202|573205|573206|574998|648198|648199|648200|648201|648202|648203|648204|648205|648206|648207|648208|705136|716570|716571|716572|728307|728308|728309|742018|742020|757144|757145|757146|757148|772771|772772|772774|772778|786238|786239|847790|847791|847792|847793|847794|847795|847796|847797|847798|847799|847800|847801|847802|847803|847804|847805|847806|847807|847808|929005|929006|929007|938746|938747|938748|938749|938750|938751|938752|938753|950834|950835|950836|958673|958674", + "text": "Herpes simplex encephalitis, susceptibility to, 4" + }, + { + "baseId": "45860|194977|194978|194979|194981|194982|194983|194984|194986|255759|255761|255762|255763|255764|255765|255767|255768|255769|255770|255771|255772|255773|255775|255778|268033|270923|389167|415495|445583|465756|465757|465761|465763|466466|466483|466487|466734|466736|466742|466743|512950|530147|530155|530156|530157|530336|530539|568169|570238|570245|570316|584314|644708|644709|644710|644711|644712|644713|644714|644715|644716|644717|644718|644719|652565|677450|693884|693885|693886|703718|703719|703720|703722|703723|703724|703725|703726|714950|726667|726668|726671|731072|740220|740221|740224|755206|755207|770916|770924|770926|778269|785284|788898|843893|843894|843895|843896|843897|843898|843899|843900|843901|843902|843903|843904|843905|843906|843907|843908|843909|843910|843911|843912|843913|843914|843915|843916|843917|843918|843919|843920|843921|843922|843923|843924|843925|843926|843927|852115|927828|927829|927830|927831|927832|927833|927834|927835|937459|937460|937461|937462|937463|937464|937465|937466|937467|937468|937469|937470|937471|937472|937473|937474|937475|949409|949410|949411|949412|949413|949414|949415|949416|949417|949418|949419|957769|957770|957771|957772|957773|957774|957775|957776|971547", + "text": "Nephronophthisis 14" + }, + { + "baseId": "45861|45862", + "text": "Joubert syndrome 19" + }, + { + "baseId": "45863|45864|135244|192046|208116|265344|714148|792792|919531|919532|920334", + "text": "Seckel syndrome 7" + }, + { + "baseId": "45865|431741", + "text": "Retinitis pigmentosa 65" + }, + { + "baseId": "45867|45868|45869|45870|45871|191414|191573|237318|253997|254000|254001|254002|254007|254008|254009|254010|265400|269350|408273|408274|421822|460890|460895|460897|460904|460911|461224|461703|461710|461712|493315|525907|525982|564431|564433|565520|565524|567050|583109|622398|639720|639721|692932|692933|692934|692935|692936|692937|701575|701576|701578|701579|701580|701581|701582|701583|701584|701585|701586|701587|724203|724205|730727|737745|737746|752442|777901|779507|820338|837964|837965|837966|837967|837968|837969|837970|837971|837972|837973|837974|837975|837976|837977|837978|837979|837980|837981|837982|837983|837984|837985|837986|837987|837988|837989|837990|837991|837992|837993|837994|837995|837996|837997|837998|837999|838000|838001|838002|838003|838004|851423|851425|852327|852604|919319|926125|926126|926127|926128|926129|926130|935384|935385|935386|935387|935388|935389|935390|935391|935392|935393|935394|935395|935396|935397|935398|935399|935400|940204|947307|947308|947309|947310|947311|947312|947313|947314|947315|947316|947317|947318|947319|947320|947321|947322|947323|947324|947325|947326|947327|947328|947329|956381|956382|956383|956384|956385|956386|956387|956388|956389|956390|956391|956392|956393|959975|959976|959977|980338|980339|980941", + "text": "Nephronophthisis 15" + }, + { + "baseId": "45875|48301|102597|102597|102598|196002|196003|196004|201157|201174|206798|360811|391203|434754|515912|611376|614219|614220", + "text": "Epilepsy, idiopathic generalized, susceptibility to, 12" + }, + { + "baseId": "45881|45882|188060|188061|188062|188063|304896|304903|304914|304916|304921|304922|304924|304925|304927|304934|304935|304944|304945|304946|304955|308601|308620|308621|308622|308649|308652|308653|308654|308665|313807|313808|313809|313827|313830|313833|313843|313879|313880|313881|313890|313894|313899|313907|313909|313910|489925|502433|620804|722994|722995|751066|766727|783075|783076|899337|899338|899339|899340|899341|899342|899343|899344|899345|899346|899347|899348|899349|899350|899351|899352|899353|899354|899355|899356|899357|899358|899359|899360|900469|900470|900471|900472|900473|900474", + "text": "Osteogenesis imperfecta, type xiii" + }, + { + "baseId": "45883|45884|79733|917045", + "text": "Hypogonadotropic hypogonadism 14 with or without anosmia" + }, + { + "baseId": "45885", + "text": "Hypogonadotropic hypogonadism 14 with anosmia" + }, + { + "baseId": "45886|231438|672114", + "text": "Deafness, autosomal recessive 98" + }, + { + "baseId": "45886|581214", + "text": "ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH HYPOHIDROSIS" + }, + { + "baseId": "45887|45888|45889|45890|45891|45892|45893|244461|443680|454334|454474|454843|520582|521013|536156|536157|560055|560057|564516|625110|633049|633050|633051|651206|651247|651274|691685|799396|799397|830052|830053|830054|830055|923792|923793|923794|932638|932639|944315|944316|944317|953961|966346", + "text": "Autosomal recessive axonal neuropathy with neuromyotonia" + }, + { + "baseId": "45894|45895|45897|255053|264602|360112|363793|373153|373161|373897|373900|374295|374338|376136|376152|376157|376186|409149|409150|504596|504605|505516|505518|566610|568255|569014|569015|569016|578515|642680|642681|642682|642683|642684|656261|656262|739311|744709|744821|769909|841721|841722|841723|927157|927158|936708|936709|936710|940313|941066|948649|948650|948651|957296|957297|957298|961790|964860|964861", + "text": "Methylmalonic acidemia with homocystinuria, type cblJ" + }, + { + "baseId": "45898|45899|45900|275441|469367|470401|470403|533545|533577|533579|533626|533630|533632|571250|571252|573522|573525|648707|648708|648709|648710|648711|648712|648713|648714|648715|648716|728675|742424|745437|757547|773118|848425|848426|848427|848428|853000|929198|929199|929200|938986|951106|951107|951108|958849|958850", + "text": "T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations" + }, + { + "baseId": "45973|66594|132250|133046|196493|243095|422134", + "text": "bilateral breast cancer" + }, + { + "baseId": "45976|46561|183836|408995|454262|494965|561356", + "text": "B lymphoblastic leukemia lymphoma with hyperdiploidy" + }, + { + "baseId": "45994|65919|67015|69561|235341|432821|535741|550711|550712|550715|550716", + "text": "Infiltrating duct carcinoma of breast" + }, + { + "baseId": "46090|550709", + "text": "Ovarian Serous Surface Papillary Adenocarcinoma" + }, + { + "baseId": "46149|46401|46599|49999|65717|66312|66327|66754|67015|70387|102669|131163|139844|213034|226153|409019|550699|550701|550714|550736", + "text": "Cancer of the pancreas" + }, + { + "baseId": "46422|150752|392715", + "text": "Anaplastic/large cell medulloblastoma" + }, + { + "baseId": "46454", + "text": "Invasive Lobular Breast Carcinoma" + }, + { + "baseId": "46540|983702", + "text": "Metastatic Prostate Small Cell Carcinoma" + }, + { + "baseId": "46816|66317|150689|615890", + "text": "Genetic non-acquired premature ovarian failure" + }, + { + "baseId": "46911|584407", + "text": "MPV17-related mitochondrial DNA maintenance defect" + }, + { + "baseId": "46918", + "text": "MPV17-Related Disorders" + }, + { + "baseId": "46918|584407|614556|971338", + "text": "Charcot-marie-tooth disease, axonal, type 2ee" + }, + { + "baseId": "46918", + "text": "Mitochondrial DNA depletion syndrome type 6" + }, + { + "baseId": "47241", + "text": "Alpha-thalassemia and related diseases" + }, + { + "baseId": "47407", + "text": "Hereditary mixed polyposis syndrome 1" + }, + { + "baseId": "47468|140563|140564|140566|140572|140573|140574|140578|140579|140580|140583|140590|140592|140593|140594|140595|140596|140597|140600|140601|140602|140603|140604|140605|140607|140611|140612|140614|140615|140617|140620|140621|140622|140623|140624|140625|140627|140628|140629|140630|140631|140632|140633|140634|140635|140636|140637|140638|140639|140642|140643|140644|140646|140647|140648|140649|140652|140655|140656|140657|140660|140661|140662|140663|140664|140666|140668|140669|140670|140673|140674|165530|178495|192176|194215|194613|195202|196151|209414|209502|209505|209518|209522|209531|209533|209541|209560|209562|209563|209576|209578|209580|209962|209966|209971|209973|209979|209991|209992|209995|209996|209998|210006|210018|210032|210035|210036|210062|210067|210072|210088|210114|210144|240514|250459|250467|253424|258233|270149|283541|283542|283547|283548|283559|283566|283567|283568|283571|284203|284208|284211|284212|284213|284215|284216|284222|284223|284225|284226|284228|284232|284233|284234|284247|286133|286134|286163|286165|286172|286199|286200|286204|286206|286223|286224|286226|286227|286228|286241|286242|286243|286251|286254|286255|286526|286528|286530|286541|286542|286543|286545|286560|286568|286569|286572|286575|286577|286579|286587|307452|307465|307467|307468|307469|307473|307475|307488|307490|307491|307495|307496|307502|307503|307505|307509|307513|307524|307525|307530|307531|307541|307542|307547|307548|307553|307554|307555|311695|311700|311702|311704|311705|311706|311709|311710|311711|311726|311732|311733|311738|311762|311763|311764|311767|311774|311778|311780|311781|311785|311787|311790|317251|317263|317291|317297|317298|317305|317318|317320|317322|317325|317327|317332|317337|317341|317354|317367|317369|317375|317385|317660|317665|317667|317679|317688|317695|317696|317714|317716|317730|317731|317753|317754|317766|317767|317768|317776|317778|317795|317798|317809|317819|317820|317828|317829|317833|317835|317839|317840|329115|329116|329117|329118|329119|329120|329121|329133|329136|329137|339236|339242|339248|345143|345153|346516|346533|346537|346539|346540|346545|346569", + "text": "Ehlers-Danlos syndrome, type 7A" + }, + { + "baseId": "47563|47564", + "text": "FLNB-Related Disorders" + }, + { + "baseId": "47566|51094|51095|53399|53400|53402|53406|176761|178210|224412|260536|265743|372156|372162|398060|460867|460870|460873|461166|461170|461650|503133|525872|526384|526387|564379|564392|565479|565481|565481|565483|567039|639687|639688|639689|639690|639691|652091|684223|701557|820330|837939|837940|837941|837942|837943|837944|858562|919317|926112|926113|926114|926115|926116|935375|935376|947295|947296|947297|947298|947299", + "text": "Dilated cardiomyopathy 1II" + }, + { + "baseId": "47581|47593|47595|47596", + "text": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3" + }, + { + "baseId": "47593|76993|140787|143071|143072|192333|200016|200025|200027|203034|203048|264339|286556|286557|287233|287252|287253|287255|287320|287322|287323|287327|287329|288040|288052|288067|288073|288079|288085|288797|290524|290733|290734|290735|290736|290751|290752|290971|290990|290991|290992|290993|290994|291008|303732|303737|303738|307196|307236|309188|309201|309206|312159|312174|319813|320336|326063|326064|326069|328425|334869|335751|336685|336708|342086|342087|343618|400552|654473", + "text": "Mitochondrial DNA depletion syndrome" + }, + { + "baseId": "47638", + "text": "Juvenile osteochondrosis of spine" + }, + { + "baseId": "47804|679696", + "text": "Early onset Alzheimer disease with behavioral disturbance" + }, + { + "baseId": "47804|202949", + "text": "Spinocerebellar atrophy" + }, + { + "baseId": "47877|293008|293012|293015|294375|294393|294426|294429|294445|297815|297842|297866|297867|297868|297869|297870|297871|297882|297942|297955|297961|297962|297969|297970|344942", + "text": "Corneal Dystrophy, Recessive" + }, + { + "baseId": "47950|47951|166409|166410|622295|622296", + "text": "CYP2C19: decreased function" + }, + { + "baseId": "47956", + "text": "CYP2C19: increased function" + }, + { + "baseId": "48023|48024|48025", + "text": "Hypocalciuric hypercalcemia, familial, type III" + }, + { + "baseId": "48032|75606|75607|75608|75609|75610|75611|75612|614263", + "text": "Asplenia, isolated congenital" + }, + { + "baseId": "48037|48038|48039|48040|192597|194556|291931|291937|291945|291952|293332|293338|293339|293340|293343|293359|293364|293365|293377|296658|296659|296663|296665|296666|296668|296673|296678|296700|489319|512897|620140|672054|748664|748665|828662|828663|889874|889875|889876|889877|889878|889879|889880|889881|889882|889883|889884|889885|889886|889887|889888|889889|889890|889891|889892|889893|889894|889895|889896|889897", + "text": "Congenital stationary night blindness, type 1F" + }, + { + "baseId": "48045|48046|134365|134366|134367|134368|306884|306892|306894|306895|306897|311069|311074|311076|311077|316675|316676|316677|316680|317008|317016|317021|369771|523990|524289|524595|562775|565527|620318|637715|637716|651812|851722|901132|901133|901134|901135|901136|901137|901138|901139|901140|901141|903317|940129|946374|972574", + "text": "Congenital disorder of glycosylation type 1u" + }, + { + "baseId": "48047|48048|48049|48050", + "text": "Sarcosine dehydrogenase deficiency" + }, + { + "baseId": "48054|48055|48056|48057|48057|48058|48059|48060|48061|131928|131928|132070|193473|237026|269259|271648|276543|276558|276562|276794|276807|276825|276830|277373|277374|277381|277382|277442|277450|277464|277465|364461|364502|404940|447149|447303|481331|511176|515098|515130|515133|515148|515152|515244|515245|515250|556606|556608|556610|556661|556663|556665|556667|558134|558136|626873|626874|626875|626876|626877|626878|626879|626880|626881|626882|626883|626884|626885|626886|626887|626888|626889|626890|626891|626892|650630|678121|690363|690364|690367|690369|690371|690372|690374|695001|696128|696131|696132|696133|718251|729922|743713|777034|780340|794432|794433|822768|822769|822770|822771|822772|822773|822774|822775|822776|822777|822778|822779|822780|822781|903676|918562|918563|921660|921661|921662|921663|930055|930056|930057|941473|941474|941475|941476|941477|941478|941479|941480|941481|941482|941483|941484|941485|941486|941487|952084|952085|952086|952087|952088|952089|959522|980436", + "text": "Aicardi-Goutieres syndrome 6" + }, + { + "baseId": "48066", + "text": "Epidermolysis bullosa, nonspecific, autosomal recessive" + }, + { + "baseId": "48072|48073|48074|48075|48076|48077|48078|48079|48080|237480|237482|424585|481067|581869|920302", + "text": "Opsismodysplasia" + }, + { + "baseId": "48087|48088|48089|48090|48091|48092|106522|106523|106524|171286|188955|206947|237474|237475|237476|361175|427991|427993|427995|427996|481363|581866|590119|804990|804991|804992|804993|805059", + "text": "Distal arthrogryposis type 5D" + }, + { + "baseId": "48093|920258", + "text": "Osteogenesis imperfecta, type xiv" + }, + { + "baseId": "48094|260407|260408|433926|442901|448453|448461|448524|448576|448587|448594|448660|448665|516236|516237|516239|516244|516249|516250|516252|516255|516256|516262|516268|516343|516348|516354|516356|540442|557416|557456|557458|557460|557462|557464|557466|557468|557470|557519|557521|557523|557525|558667|558669|558671|558673|558675|558677|558679|559170|559172|609441|650390|650391|650394|650395|650396|650397|650398|650400|650401|650402|650403|690688|690690|690691|690692|690693|690694|690695|690696|690697|690698|695065|695066|695067|719178|719179|732694|762136|778868|780802|819023|819024|819025|824615|824616|824617|824618|824619|824620|824621|824622|824623|824624|824625|824626|824627|824628|824629|922205|922206|922207|922208|922209|922210|930746|930747|930748|942177|942178|952600|952601|952602|952603|964648", + "text": "Neuronopathy, distal hereditary motor, type viia" + }, + { + "baseId": "48095|48096|48097|48098|241088|565641|639919|798641|919354", + "text": "Dystonia 24" + }, + { + "baseId": "48099|48100|48101|48102|48103|421466|426742|426743|553413|622877|792741|963133", + "text": "Spastic paraplegia 56, autosomal recessive" + }, + { + "baseId": "48104|48105", + "text": "Hypotrichosis 11" + }, + { + "baseId": "48106|48107|171847|215009", + "text": "Klippel-Feil syndrome 2, autosomal recessive" + }, + { + "baseId": "48114", + "text": "Brachydactyly, type a1, c" + }, + { + "baseId": "48144", + "text": "Congenital nonbullous ichthyosiform erythroderma" + }, + { + "baseId": "48144|285303|287455|287457|287669|287716|296690|296692|298558|298559|298575|298587|302679|302683|302685|302719|307050|307386|330559|332788|340757|340761|340769|346392|347722|347734|347764|348283|349495|361957|361959|443963|613741|672241|672242|672243|672244|672245|672246|672247|672248|672249|672250|672251|672252", + "text": "Congenital ichthyosiform erythroderma" + }, + { + "baseId": "48151|48152", + "text": "Zinc deficiency, transient neonatal" + }, + { + "baseId": "48154|48155|48156|48158|249390|249391|276592|614182|614183|614184|614185|614186|816300|980433", + "text": "Ectopia lentis et pupillae" + }, + { + "baseId": "48160|48161|252342|252343|252344|252345|252346|300019|300029|300031|300036|300038|300042|300044|300048|302702|302703|302704|302705|302706|302709|302720|302721|307051|307054|307055|307056|307333|307334|307337|307366|307367|307368|307379|307380|307392|361956|361957|361958|361959|361960|389753|431011|438322|443963|609204|613741|622227|622228|622229|622230|622231|622262|710481|710482|722017|722019|895904|895905|895906|895907|895908|895909|895910|895911|895912|895913|895914|895915|895916|895917|895918|895919|895920|895921|896237|896238|896239", + "text": "Autosomal recessive congenital ichthyosis 10" + }, + { + "baseId": "48162|48163|48164|361490|407824|439114|459707|539027|563592|563593|563597|564510|569524|569541|576135|578482|609740|626196|638758|638759|652089|701216|701217|701219|701220|701221|712196|712197|712198|712199|712200|712201|723801|723802|723803|723805|723807|723808|723810|744552|759933|767653|779459|779461|790942|820192|836678|836679|836680|836681|836682|920281|925759|934976|960714|961783|961784", + "text": "2-aminoadipic 2-oxoadipic aciduria" + }, + { + "baseId": "48165|213597|446857|539027|576135|608957|903493", + "text": "Charcot-Marie-Tooth disease, axonal, type 2Q" + }, + { + "baseId": "48168|48169", + "text": "Phosphohydroxylysinuria" + }, + { + "baseId": "48170|48171|134744|205242|213552|244153|247430|259766|259766|290723|291634|291659|440803|443460|494945|494946|494947|494948|494949|494950|511499|576106|612473|790396|790397|963540|966847|969704", + "text": "Spinocerebellar ataxia type 29" + }, + { + "baseId": "48177|48178|48179|139356|139357|384501|384502|411517|513138|513139|623349|623350|818335", + "text": "Nephrotic syndrome, type 7" + }, + { + "baseId": "48180|135314|135316|429275|461567|461898|462239|579720|579721|579732|579738|579760|579953|579968|672082|695536|701900|738162|768632|777983|778160|787698|941009", + "text": "Schuurs-hoeijmakers syndrome" + }, + { + "baseId": "48180|198826|514050|514051", + "text": "Mitral valve prolapse" + }, + { + "baseId": "48180", + "text": "Optic disc pallor" + }, + { + "baseId": "48180|360984|459248", + "text": "Aortic root dilatation" + }, + { + "baseId": "48180|550131|590736", + "text": "Hypotelorism" + }, + { + "baseId": "48180", + "text": "PACS1-related syndrome" + }, + { + "baseId": "48187|48188|70502|70502|139368|251822|270125|270626|363941|363941|454742|454749|454815|454817|455307|455595|455600|455602|455604|513955|520924|520926|520927|521357|559833|560213|560334|562990|562995|562996|633635|633636|633637|691784|691785|691786|691787|691788|691789|691790|695283|698920|698921|698922|698924|698927|698928|698929|698930|698932|698933|698934|698935|698937|698938|698939|709731|709732|721300|721301|721302|721305|734934|749343|749349|830537|830538|918933|918934|923948|923949|944491|944492|944493|954093", + "text": "Basal ganglia calcification, idiopathic, 4" + }, + { + "baseId": "48191|135824|195354|391252|427838|983535", + "text": "Early infantile epileptic encephalopathy 15" + }, + { + "baseId": "48192|48192|48193|48193|48194|48194|48195|48196|48197|48198|48198|97568|97568|131953|131953|134797|134800|134801|134802|134804|134804|134805|134806|134807|134808|134809|134810|134811|134812|134813|134814|190603|190604|191084|191085|191086|191275|191587|191944|192044|192045|192142|192143|192145|192779|192780|193143|193664|193793|194489|207650|207651|207652|207653|207654|207655|225839|225839|225840|225840|237102|240525|240527|240528|240529|240531|240532|259918|264399|264434|264494|265856|270947|270947|272505|273018|273452|273511|274244|274653|359914|361531|361532|361631|362336|370113|370123|370129|370135|370137|370147|370148|370157|370159|370162|370188|370555|370557|370592|370602|370609|370616|370625|370626|370633|370648|370673|370697|370701|370704|370708|370719|370725|370729|370730|370895|370902|370905|370929|370930|370937|370942|370972|370977|370982|370985|370988|370998|371009|371015|371017|371025|371033|371045|371052|371058|371073|372572|372631|372640|372655|372656|372693|372698|372700|372707|372719|372754|372755|372761|396706|396707|396710|396722|396723|396724|396728|396729|396730|396733|396900|396915|396917|396923|396924|396944|396946|396949|396953|397020|397025|397039|397045|397047|397299|397300|397305|397306|407610|407611|407614|407619|413802|413803|421727|425833|441324|441325|441326|444411|444414|444418|444419|444421|458856|458863|458864|458873|458875|458877|458887|458896|458904|458905|459229|459235|459238|459244|459246|459249|459251|459255|459258|459267|459275|459280|459281|459283|459285|459288|459294|459311|459313|459686|459691|459697|459700|459703|459705|459708|459710|459716|459718|459721|459724|459733|488158|489409|491623|492800|494056|502387|502408|502410|502412|502717|502720|502722|503119|503147|503172|524324|524326|524327|524336|524338|524344|524594|524597|524599|524600|524606|524608|524610|524615|524621|524625|524632|524636|524759|524760|524763|524764|524782|524785|524787|524791|524797|524803|524807|524922|524927|524934|524936|524940|524942|524944|524949|536766|539020|539020|552136|552137|562987|562991|563002|563004|563006|563012|563019|563021|563025|563236|563736|563742|563744|563756|563756|563757|563759|563764|563767|563769|563780|565734|565735|565740|565743|565745|565746|565748|568323|568810|568814|568817|568818|568825|579550|579555|579560|579567|579621|579632|584641|586592|586592|614339|637999|638000|638001|638002|638003|638004|638005|638006|638007|638008|638009|638010|638010|638011|638012|638013|638014|638015|638016|638017|638018|638019|638020|638021|638022|638023|638024|638025|638026|638027|638028|638029|638030|638031|651838|651929|651991|652146|655924|655926|684064|684065|685248|687420|687421|687422|687424|687426|687427|687432|687433|689943|692634|692635|695429|695430|736998|737001|751536|759890|767261|767269|767270|767272|790860|790861|790862|790863|790864|790865|793336|793338|801996|801997|801998|802000|820096|820097|821984|821985|821986|821987|821988|821989|821990|821991|821992|821993|821994|822267|835797|835798|835799|835800|835801|835802|835803|835804|835805|835806|835807|835808|835809|835810|835811|835812|835813|835814|835815|835816|835817|835818|835819|835820|835821|835822|835823|835824|835825|835826|835827|835828|851250|851253|851256|851730|852172|852174|858348|859740|859741|917734|919204|925475|925476|925477|925478|925479|925480|925481|925482|925483|925484|925485|925486|925487|925488|925489|925490|925491|925492|934641|934642|934643|934644|934645|934646|934647|946482|946483|946484|946485|946486|946487|946488|946489|946490|946491|946492|946493|946494|946495|946496|955753|955754|959916", + "text": "Early infantile epileptic encephalopathy 14" + }, + { + "baseId": "48192|48192|48193|48194|48194|48196|48196|48197|48197|48198|48198|94262|94263|94264|97568|131953|131953|134797|134800|134801|134802|134804|134805|134806|134807|134808|134809|134810|134810|134811|134812|134813|134814|181176|190603|190604|191084|191085|191086|191275|191587|191944|192044|192045|192142|192143|192145|192779|192780|193143|193664|193793|194489|207650|207651|207652|207653|207654|207655|225839|225840|237102|240525|240527|240528|240529|240531|240532|259918|264399|264494|265856|270947|272505|273018|273452|273511|274244|274653|359914|361531|361532|361631|362336|370113|370123|370129|370135|370137|370147|370148|370157|370159|370162|370188|370555|370557|370592|370602|370609|370616|370625|370626|370633|370648|370673|370697|370701|370704|370708|370719|370725|370729|370730|370895|370902|370905|370929|370930|370937|370942|370972|370977|370982|370985|370988|370998|371009|371015|371017|371025|371033|371045|371052|371058|371073|372572|372631|372640|372655|372656|372693|372698|372700|372707|372719|372754|372755|372761|396706|396707|396710|396722|396723|396724|396728|396729|396730|396733|396900|396915|396917|396923|396924|396944|396946|396949|396953|397020|397025|397039|397045|397047|397299|397300|397305|397306|407610|407611|407614|407619|413802|413803|421727|425833|441324|441325|441326|444411|444414|444418|444419|444421|458856|458863|458864|458873|458875|458877|458887|458896|458904|458905|459229|459235|459238|459244|459246|459249|459251|459255|459258|459267|459275|459280|459281|459283|459285|459288|459294|459311|459313|459686|459691|459697|459700|459703|459705|459708|459710|459716|459718|459721|459724|459733|489409|491623|492800|494056|502387|502408|502410|502412|502717|502720|502722|503119|503147|503172|524324|524326|524327|524336|524338|524344|524594|524597|524599|524600|524606|524608|524610|524615|524621|524625|524632|524636|524759|524760|524763|524764|524782|524785|524787|524791|524797|524803|524807|524922|524927|524934|524936|524940|524942|524944|524949|536766|539020|539020|562987|562991|563002|563004|563006|563012|563019|563021|563025|563236|563736|563742|563744|563756|563757|563759|563764|563767|563769|563780|565734|565735|565740|565743|565745|565746|565748|568323|568810|568814|568817|568818|568818|568825|579550|579555|579560|579567|579621|579632|584641|586592|614339|637999|638000|638001|638002|638003|638004|638005|638006|638007|638008|638009|638010|638011|638012|638013|638014|638015|638016|638017|638018|638019|638020|638021|638022|638023|638024|638025|638026|638027|638028|638029|638030|638031|651838|651929|651991|652146|655924|655926|684064|684065|685248|687420|687421|687422|687424|687426|687427|687432|687433|689943|692634|692635|695429|695430|736998|737001|751536|759890|767261|767269|767270|767272|793336|793338|801995|801999|820096|820097|821984|821985|821986|821987|821988|821989|821990|821991|821992|821993|821994|821994|822267|835797|835798|835799|835800|835801|835802|835803|835804|835805|835806|835807|835808|835809|835810|835811|835812|835813|835814|835815|835816|835817|835818|835819|835820|835821|835822|835823|835824|835825|835826|835827|835828|851250|851253|851256|851730|852172|852174|859740|859741|919204|919204|919205|920269|920270|925475|925476|925477|925478|925479|925480|925481|925482|925483|925484|925485|925486|925487|925488|925489|925490|925491|925492|934641|934642|934643|934644|934645|934646|934647|946482|946483|946484|946485|946486|946487|946488|946489|946490|946491|946492|946493|946494|946495|946496|955753|955754|959916|964320|970902|977237", + "text": "Epilepsy, nocturnal frontal lobe, 5" + }, + { + "baseId": "48200|244166|361080|438582|745480|745482", + "text": "Cowchock syndrome" + }, + { + "baseId": "48201|677303|919175", + "text": "Familial episodic pain syndrome 1" + }, + { + "baseId": "48202|48203|48204|48205|48206|59640|59641|254707|267778|421948|462421|462427|462428|462435|462441|462686|504374|527322|527324|527636|527865|565685|567002|567010|567019|567030|568164|571166|571977|571983|622835|641352|641353|641355|693270|702462", + "text": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10" + }, + { + "baseId": "48207|206636|363982|481207|531433|531532|571709|574533|646229|646230|646231|646232|715547|715549|727264|740861|778274|785644|797564|845648|845649|845650|845651|845652|928385|950044|950045|958195", + "text": "Maternal riboflavin deficiency" + }, + { + "baseId": "48214|49912|207092|361804|361805|495159|513266|514291|583091|653865|653916|790431|792742", + "text": "Alazami syndrome" + }, + { + "baseId": "48215|48216|48217|512805", + "text": "Cleft palate, isolated" + }, + { + "baseId": "48219|48220|204531|211115|211116|211118|227279|622070|622071|622072|970486", + "text": "Perrault syndrome 2" + }, + { + "baseId": "48225|48226|48227|48228|48229|48230|48231|48232|48233|213629|213630|273614|361211|361212|362440|362441|409073|421974|424700|430983|481349|511012|551314|551315|552171|623318|653887|798671|799764|816021|857656|919512|919513|919514|919515|961529|964097|964680|969708", + "text": "Autism, susceptibility to, 18" + }, + { + "baseId": "48236|48237|48238|48239|48240|533213|679723", + "text": "Ciliary dyskinesia, primary, 20" + }, + { + "baseId": "48253|48254|48255|137052|213551|227078|247398|259764|259765|264142|264159|406301|421442|424246|428176|443452|495185|550355|550356|551769|552074|552075|553377|589801|589831|623275|653859|798531|798532|805344|903521|918237|964223|967266|969251", + "text": "Mental retardation, autosomal dominant 19" + }, + { + "baseId": "48264|48265|76353|206722|259631|263969|361157|362431|364424|404923|423707|423708|425312|427639|427641|442546|535694|550761|575485|611374|614074|625784|626365|653912|789845|789846|804861|904242|918559|918560|920126|965735|969549|970369|970370|970514|970661|976640", + "text": "Mental retardation, autosomal dominant 18" + }, + { + "baseId": "48270|48271|48272|48273|222375|241849|241850|241851|241852|373109|373113|373868|376092|376094|399679|399681|399687|400219|400417|409131|463305|463814|464159|464308|464312|528668|528669|528672|528674|566500|568941|572814|572815|572818|642504|642505|642506|642507|642508|642509|642510|652952|684498|684499|685399|688307|688308|714161|788882|841551|841552|841553|841554|841555|841556|841557|841558|851559|927098|927099|927100|927101|927102|936637|948586|948587|948588|957233|957234|957235|960805", + "text": "Spastic paraplegia 28, autosomal recessive" + }, + { + "baseId": "48274|222358|222359|241778|241779|241780|360152|361210|372956|372957|372958|372959|373686|373687|373699|374019|375849|375852|399487|399535|399540|399544|399548|399644|399645|399647|399652|399653|400073|400076|400080|400261|400265|445179|445180|445181|463046|463530|463813|463816|463818|504405|504654|504943|505327|527928|527932|527935|527937|527952|528270|528411|528412|528414|539052|547272|547431|566230|566232|566233|567813|567824|568694|568698|568699|568710|572669|572673|572676|572677|572678|642112|642113|642114|642115|642116|642117|642118|642119|642120|642121|642122|684433|684434|684435|684436|684437|684438|684439|684440|684441|684442|684443|684444|684445|684446|684447|684448|684449|684450|684451|684452|684453|685391|688209|688210|688211|688212|688214|688215|688216|688217|688218|688219|688220|688221|688222|688223|688224|688225|688226|688227|688228|688229|688230|688231|688232|688233|688234|688235|688236|688238|688239|688240|690071|690072|690073|693418|693419|693420|693422|695607|695608|702767|702768|702769|725567|725568|739124|739125|739126|739127|739128|769673|769675|769676|769677|775970|784648|784649|784656|820594|820595|820596|841069|841070|841071|841072|841073|841074|841075|841076|841077|926965|926966|936517|936518|948438|948439|948440|948441|957148|957149|957150|957151|957152|957153|957154|957155|961032|961034|961222|961312|961313|961811|962132|965618|966617|979423|979424|979425|979426|979427|979428|979429|979430|979431|979432|979433|979434|979435|979436|979437|979438|979439|979440|979441|979442|979443|979444|979445|979446|979447|979448|979449|979450|979451|979452|979453|979454|979455|979456|979457|979458|979459|979460|979461|979462|979463|979464|979465|979466|979467|983706|983707|983708", + "text": "Spastic paraplegia 49, autosomal recessive" + }, + { + "baseId": "48275|48276|48277|48278|48279|48280|96876|106844|207544|207546|370223|370224|371848|421672|428832|428833|428836|444273|457829|457833|457836|457840|457846|458891|458897|502017|502019|523554|523557|523882|524143|524154|562947|565113|565117|622389|622390|626175|637196|637197|637198|637199|637200|637201|651724|651967|655863|684005|684006|684007|687279|736641|744421|766801|796170|834736|834737|925197|934301|934302|940103|955406|955407", + "text": "Spastic paraplegia 54, autosomal recessive" + }, + { + "baseId": "48283|240162|396135|396417|523259|677206", + "text": "Ciliary dyskinesia, primary, 18" + }, + { + "baseId": "48284|48285|48286|490904|609316", + "text": "Deafness, autosomal recessive 48" + }, + { + "baseId": "48287", + "text": "Usher syndrome, type 1J" + }, + { + "baseId": "48288", + "text": "HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO" + }, + { + "baseId": "48289|48290|48291|48292", + "text": "Hypogonadotropic hypogonadism 15 with anosmia" + }, + { + "baseId": "48293|48294|77869|77870|77871|134667|191229|191682|208938|208940|225851|237535|363640|363654|364204|377886|379012|379014|379020|379114|379118|379963|379964|379966|379969|380161|413849|430711|433601|439210|495892|507840|507934|507939|507963|508547|508552|534608|538505|572329|573671|649804|649805|649806|649807|649808|649809|729498|729499|729500|729501|743223|743224|743230|758367|758368|758370|758373|773878|773879|773884|773885|786745|786746|849772|849773|849774|849775|849776|849777|929610|939479|951654|951655|951656|951657|959195|959196|959197|960367|971190", + "text": "Mental retardation 3, X-linked" + }, + { + "baseId": "48295|438794|466807|570578|610028|614430|816340|920365|971056", + "text": "Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated" + }, + { + "baseId": "48296|181182|181183|214533|231511|231521|244152|244340|244341|245298|248727|274228|366203|366375|421363|433504|448534|450538|450735|450737|450744|499536|499934|517820|517823|517826|517841|517843|557884|557935|557937|557939|559123|559125|560944|560946|560950|612349|629480|629481|629482|629483|629484|629485|629486|629487|650942|695116|695117|697338|743878|825755|825756|825757|825758|825759|825760|825761|825762|825763|825764|851151|851400|861336|922580|922581|922582|922583|931157|931158|940695|942614|942615|942616|952945|952946|952947|952948", + "text": "Spinal muscular atrophy, distal, autosomal recessive, 5" + }, + { + "baseId": "48297|48298|76384|390115|536051|536052|538453|679722|857599|858651|919676", + "text": "Ciliary dyskinesia, primary, 5" + }, + { + "baseId": "48304|362837|362932", + "text": "Malignant tumor of floor of mouth" + }, + { + "baseId": "48306|134026|134028|134031|134032|134033|134041|134042|134048|134053|134055|188860|208179|208186|208189|208191|208192|214161|322442|322445|322451|322454|331758|331762|331774|331775|331781|331782|331787|331791|331796|331799|331806|338741|338743|338746|338760|338762|338768|338770|338775|338778|338786|338795|338802|338807|340387|340392|340399|340401|361348|409214|409217|429654|429657|438764|486759|486760|739584|739586|739587|745083|754409|754410|754411|797117|873383|873384|873385|873386|873387|873388|873389|873390|873391|873392|873393|873394|873395|873396|873397|873398|873399|873400|873401|873402|873403|873404|873405|873406|873407|873408|873409|873410|873411|873412|873413|873414|873415|873416|873418|876494|876495|876496|876497|980952", + "text": "Primary autosomal recessive microcephaly 4" + }, + { + "baseId": "48308|229112|229117|389221|404767|496365|508788|622332|622333|790409|790410|790411|790412", + "text": "Sinoatrial node dysfunction and deafness" + }, + { + "baseId": "48314|48315|48316|79722|79724|79726|79727|613937", + "text": "Hypogonadotropic hypogonadism 16 with or without anosmia" + }, + { + "baseId": "48322|446880|446881", + "text": "Peroxisome biogenesis disorder 14B" + }, + { + "baseId": "48331|48332|48333|48334|48335|48336|791480", + "text": "Keratosis palmoplantaris papulosa" + }, + { + "baseId": "48339", + "text": "Diamond-Blackfan anemia 11" + }, + { + "baseId": "48340|268394|369870|457690|458281|458285|502423|513201|523684|523687|562252|562253|562777|562781|567730|637007|637008|637009|637010|651772|683993|683996|736559|777760|834522|834523|834524|834525|834526|940897|945995|955377", + "text": "Spastic paraplegia 53, autosomal recessive" + }, + { + "baseId": "48341", + "text": "Microphthalmia, isolated, with coloboma 8" + }, + { + "baseId": "48342|48343|48344|133971|190847|190848|191230|194423|274071|429787|493682|589815|644614|653268|714885|714886|731066|770873|779766|843770|927784|949374|949375|957737", + "text": "Branched-chain keto acid dehydrogenase kinase deficiency" + }, + { + "baseId": "48356|48357|48357|171781|373940|374397|464413|464415|464421|464422|528327|528408|528802|642780|642781|841903|927193|927194|948723", + "text": "Ventricular tachycardia, catecholaminergic polymorphic, 4" + }, + { + "baseId": "48357|171781|181363|181364|181365|373940|374397|464413|464415|464421|464422|528327|528408|528802|642780|642781|841903|927193|927194|948723|962908|962909", + "text": "Long QT syndrome 14" + }, + { + "baseId": "48363|48364|152761|171703|171704|361812|434606|653811|653812|788793|790600|792755|904229|970058", + "text": "Combined oxidative phosphorylation deficiency 11" + }, + { + "baseId": "48365|805021", + "text": "Lethal congenital contracture syndrome 4" + }, + { + "baseId": "48366|48367|48368|626304", + "text": "Linear skin defects with multiple congenital anomalies 2" + }, + { + "baseId": "48369|131913|131914|513536|816449", + "text": "Bardet-Biedl syndrome 17" + }, + { + "baseId": "48374|76988|193095|215609|243730|243731|243732|243733|243734|243735|243736|270733|360560|377682|377690|377692|377694|377700|378831|378838|378845|378850|378855|378940|378941|378944|378947|378949|379895|379897|404048|404049|404070|404072|404074|404432|404434|404478|411101|411104|411105|411107|422404|426400|442385|470449|470450|471230|471680|471684|471685|472046|488365|507682|507786|507790|507797|507804|508260|508285|508292|508467|508472|508477|508478|534443|534446|534449|534483|534486|534488|534582|534589|534590|534996|534997|572176|573521|574248|575316|575317|575318|575319|575320|577925|577926|580629|614498|649629|649630|649631|649632|649633|649634|649635|649636|649637|649638|649639|649640|649641|649642|649643|649644|649645|649646|649647|649648|656727|684940|689323|689326|689328|689329|689330|706077|706078|706079|729367|729368|743106|773707|773708|773711|773712|802042|821547|822209|822210|822211|822212|822213|849558|849559|849560|849561|849562|849563|849564|849565|849566|849567|849568|849569|849570|849571|849572|849573|849574|849575|849576|858366|929540|929541|929542|929543|929544|929545|929546|929547|929548|939402|939403|939404|939405|939406|939407|939408|939409|951575|951576|951577|951578|951579|959155|960357|964566|971174", + "text": "Epileptic encephalopathy, early infantile, 36" + }, + { + "baseId": "48376", + "text": "Acampomelic campomelic dysplasia with autosomal sex reversal" + }, + { + "baseId": "48377|48378|48379|486664|495308|497435|497650|512934|623313|672142|961373", + "text": "Deafness, autosomal recessive 84b" + }, + { + "baseId": "48380|48381|59678", + "text": "Ectodermal dysplasia 9, hair/nail type" + }, + { + "baseId": "48386|48387|48388|48389|48390|48391|48392|140886|140887|140888|140889|140890|140893|140894|260092|260347|260348|275196|324769|324772|324777|324779|324783|324787|324788|324791|334370|334378|334380|334386|334387|334389|334396|334399|334401|334404|340988|340991|340995|340996|340998|340999|341005|341006|342490|342491|342493|342495|342498|342500|342503|342511|342519|342521|342522|342528|342532|374227|375245|413435|434650|445541|513356|550035|740039|791560|791561|858723|874968|874969|874970|874971|874972|874973|874974|874975|874976|874977|874978|874979|874980|874981|874982|874983|874984|874985|874986|874987|874988|874989|874990|876647|961327|961566|961567", + "text": "Combined oxidative phosphorylation deficiency 12" + }, + { + "baseId": "48393|48394|48395|48396|48397|76938|205560|253032|253033|253034|253036|253039|253040|253041|253042|304275|307929|313041|313043|313045|313046|457209|457801|457810|457830|458207|458212|458224|458227|523011|523012|523019|523271|523276|523278|523502|523507|523632|562371|564643|564653|564657|567375|567382|636604|636605|636606|636607|636608|636609|651921|651925|651932|700397|722850|722851|736434|750909|766536|777899|834142|834143|834144|834145|834146|851181|898901|898902|898903|898904|898905|898906|898907|898908|898909|898910|898911|898912|898913|900442|900443|925020|925021|934098|955291|955292|955293", + "text": "Ciliary dyskinesia, primary, 19" + }, + { + "baseId": "48400|205731|205732|205732|210875|210875|210883|214827|247641|247642|539469|578332|578333|578334|578335|790283|857612|983739", + "text": "Combined oxidative phosphorylation deficiency 13" + }, + { + "baseId": "48401|205732|210875|210883|857612|961218|961219", + "text": "Deafness, autosomal recessive 70" + }, + { + "baseId": "48402", + "text": "Myoclonus, familial 1" + }, + { + "baseId": "48405|48406|264453|512928|857387", + "text": "Vitreoretinopathy, neovascular inflammatory" + }, + { + "baseId": "48407|153720|237463|468564|468572|468574|468583|468586|468590|469934|469938|469943|470537|470540|470551|508919|508920|532766|532787|587942|613616|647843|647844|647845|672110|694361|694362|716298|728042|745056|772528|772530|791917|821245|847446|847447|847448|847449|847450|919843|919844|920404|958578|964518|964888|983288", + "text": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1" + }, + { + "baseId": "48413|48414|48415|244143|263837|447955|448037|448041|481588|515818|798467|850670|920096|951950|951951|951952|983284", + "text": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2" + }, + { + "baseId": "48413|805108", + "text": "Capillary hemangiomas" + }, + { + "baseId": "48413|98875|305750|360822|360912|360923|360955|429431|432203|432204|432223|432224|540525|540526|801078|965430", + "text": "Polymicrogyria" + }, + { + "baseId": "48416|48417|48418|199795|230054|230063|404796|404797|404798|404799|404800|404801|444762|481984|488236|511040|612153|857680|859852|965209|967272|975898", + "text": "Deafness, autosomal recessive 18b" + }, + { + "baseId": "48420|48421|48421|136033|136034|136035|136036|208303|255873|255874|268656|269848|270909|271936|375420|375626|375630|429844|464841|465438|465556|466760|492696|505498|505756|506486|530534|530537|530768|568327|570534|644975|644976|644977|644978|644979|656386|693932|703818|715077|715078|755385|791642|844290|844291|937600|937601|937602|960855", + "text": "Joubert syndrome 20" + }, + { + "baseId": "48421|75583|75584|136034|136035|136036|208303|237177|255874|268656|269848|270909|271936|375420|375626|375630|429844|429844|429845|464841|465438|465556|466760|492696|505498|505756|506486|530534|530537|530768|568327|570534|583126|622913|644975|644976|644977|644978|644979|656386|693932|703818|715077|715078|755385|844290|844291|937600|937601|937602|960855", + "text": "Meckel syndrome, type 11" + }, + { + "baseId": "48422", + "text": "Mental retardation, X-linked, syndromic 32" + }, + { + "baseId": "48423|48424|48425|140991|140992|140993|140994|140995|211247|211248|211249|211250|211252|211253|211254|211255|211257|211258|211259|211260|211262|247570|252444|363986|368681|368988|369007|369157|370501|421595|455121|455655|455657|455850|455852|455854|455856|455894|456258|456263|456585|456590|481208|481383|481384|501381|501674|501770|511685|521641|521702|521895|522053|522082|522083|522411|522412|560763|560904|563265|563273|563679|565749|565755|578604|578605|578606|578607|578608|578609|578610|578611|578612|578613|578614|578615|578616|578617|578618|578619|578620|578621|578622|578623|578624|578625|578626|578627|578629|578630|578631|578632|578633|578634|578635|635003|635004|635005|635006|635007|635008|635009|635010|635011|635012|692013|699637|699638|710563|722073|787413|801560|819701|832064|832065|832066|832067|832068|832069|832070|832071|832072|832073|832074|832075|832076|832077|832078|832155|919043|924382|924383|924384|924385|924386|924387|924388|924389|924415|933365|933366|933367|933368|933369|933370|933371|945071|945072|945073|945074|945075|945076|945077|954504|954796|959808|962036|962037|962038", + "text": "Combined oxidative phosphorylation deficiency 14" + }, + { + "baseId": "48426|48427|48428|48429|125903|137060|137061|137062|141967|213637|429712|434648|481417|538446", + "text": "Combined oxidative phosphorylation deficiency 15" + }, + { + "baseId": "48426|48429", + "text": "Mitochondrial complex 1 deficiency, nuclear type 27" + }, + { + "baseId": "48430|247690|247691|247692|536071|622320|983735", + "text": "Encephalopathy due to defective mitochondrial and peroxisomal fission 2" + }, + { + "baseId": "48435|246907", + "text": "Mitochondrial complex 1 deficiency, nuclear type 25" + }, + { + "baseId": "48436|48437", + "text": "Pontocerebellar hypoplasia type 8" + }, + { + "baseId": "48438|508950|508951|508952|508953|508954|508955|508956|552246|626291", + "text": "Spinocerebellar ataxia, X-linked 1" + }, + { + "baseId": "48442", + "text": "Focal facial dermal dysplasia 4" + }, + { + "baseId": "48444|48445|48446|48447|215573|237201|430235|438904|468854|468859|468860|468865|468878|468880|468884|469881|469883|469885|469886|469888|469893|469899|470300|470303|470305|470307|470310|470314|470315|470978|470979|470981|470982|470985|470988|470999|471002|471004|533071|533081|533148|533153|533156|533176|533178|533183|533572|533573|533594|537331|551332|551333|552219|552220|552221|570840|570842|573170|573171|573172|573176|573177|573178|574785|574987|574988|574991|574992|648161|648162|648163|648164|648165|648166|648167|648168|648169|648170|689090|689091|689093|689094|689096|690219|694444|694445|694447|694450|694454|694462|694463|695829|705046|705047|705048|705049|705054|716489|728220|728223|731285|741943|760729|760814|847755|847756|847757|847758|847759|847760|847761|847762|847763|920411|928990|928991|928992|928993|928994|938720|938721|938722|938723|938724|938725|941233|950816|950817|950818|958652|983501", + "text": "Carpenter syndrome 2" + }, + { + "baseId": "48448|48449|48450|48451|48452|99372|257747|257748|257749|352786|677332|677333|678986|678987|678995|679001|798806|918120|918121|918122", + "text": "Hypothyroidism, central, and testicular enlargement" + }, + { + "baseId": "48453|495299|792763|792764", + "text": "Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma" + }, + { + "baseId": "48454|48455|48456|48457|48458|94288|193194|247147|256619|256620|256621|256622|256623|256624|256626|256627|256630|256633|256635|256637|256644|264720|265513|266331|266895|266900|267475|267986|267997|268729|268800|269069|269118|269363|269413|269419|269529|269976|270197|270429|271263|271422|273366|273875|273918|274265|362645|362646|442023|467908|468787|468797|468798|468799|468806|469610|469614|488928|489611|489627|489628|489772|490356|492081|492910|532161|532170|532172|532179|532183|532266|532547|532551|532553|570055|570059|571839|572693|574713|584398|585589|586462|587284|588633|647099|647100|647101|647102|647103|647104|647105|647106|647107|647108|647109|647110|694256|694258|715915|785879|787997|846711|846712|846713|846714|846715|846716|846717|846718|846719|852808|852929|928665|928666|928667|928668|938388|938389|938390|938391|938392|950466|950467|950468|950469|950470|950471|950472|950473|950474|950475|958444|958445|958446|958447|958448|960259|960260", + "text": "Facioscapulohumeral muscular dystrophy 2" + }, + { + "baseId": "48459|48460|48461|165628|361148|363858|437976|441703|441707|508883|612444|622425|906375|906378|919550", + "text": "Congenital hydrocephalus 1" + }, + { + "baseId": "48487|48488|48489|48490|48491|48492|614663|614664|614665|791850", + "text": "Dystonia 25" + }, + { + "baseId": "48495|223024|227149|227467|354299|360849|360877|360940|360941|361091|362152|362157|362165|415601|434101|496932|513979|514091|514107|514163|514168|514186|514193|514199|581713|590047|590048|590736|620168|623231|678055|679509|679510|679511|679512|679513|801079|801225", + "text": "Generalized hypotonia" + }, + { + "baseId": "48499|243872|243880|415068|421603|514544|514546|535659|535661|535662|615878|615879|615880|615881|615882|615883|615884|622372|626381|805515|815985|816363|858814|919063|963617|964282|964708|969090|970840|973101", + "text": "Developmental delay, intellectual disability, obesity, and dysmorphic features" + }, + { + "baseId": 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+ "text": "Vici syndrome" + }, + { + "baseId": "48521|48522|48523|983856", + "text": "Spermatogenic failure 11" + }, + { + "baseId": "48524|48525", + "text": "C3HEX, ability to smell" + }, + { + "baseId": 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+ "text": "Colorectal cancer 10" + }, + { + "baseId": 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+ "text": "Colorectal cancer, susceptibility to, 12" + }, + { + "baseId": "48560|49852|222233|241266|241269|241285|241297|241316|241326|241341|241347|241355|241362|241420|241429|241431|241482|241513|241517|244749|244752|260013|390014|398544|398641|398653|398670|398671|398767|398820|399051|399093|399255|399399|399530|399543|408585|432713|462463|462480|462793|462796|462800|476360|476956|503662|526787|526935|527136|527193|527468|537658|611105", + "text": "Facial dysmorphism, immunodeficiency, livedo, and short stature" + }, + { + "baseId": "48564|143196|792770", + "text": "Osteopetrosis, autosomal recessive 8" + }, + { + "baseId": "48565|48566|237109|420146|438876|972799", + "text": "Mitochondrial DNA depletion syndrome 11" + }, + { + "baseId": "48573|214145|214146|214147|214148|439703|439704|439705|537471|538605", + "text": "Charcot-Marie-Tooth disease, axonal, type 2w" + }, + { + "baseId": "48592", + "text": "STRA6-Related Disorder" + }, + { + "baseId": "48595", + "text": "Autism, susceptibility to, 19" + }, + { + "baseId": "48597|48598|375834|376706|378927|378931|445938|506849|506866|508895|508896|508897|508898|512871|512872|512961", + "text": "Left ventricular noncompaction 7" + }, + { + "baseId": "48599", + "text": "Focal T2 hyperintense basal ganglia lesion" + }, + { + "baseId": "48617|208670|208672|362163|362164|446252|552224|610404|610405|626282|788938|805113|805114|971144", + "text": "Primary autosomal recessive microcephaly 10" + }, + { + "baseId": "48664", + "text": "Cowden syndrome 4" + }, + { + "baseId": "48689|538999|539000|622371|679584", + "text": "Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly" + }, + { + "baseId": "48690|48691|48692|237373|463957|464786|642983|652495|693635|693636|693637|703061|703063|703066|703067|730972|739453", + "text": "Microphthalmia, isolated 8" + }, + { + "baseId": "48693|48694|48695|48696|538937|538938|654147", + "text": "Urofacial syndrome 2" + }, + { + "baseId": "48698|204592|359832|578487|790972", + "text": "Neuropathy, hereditary motor and sensory, Russe type" + }, + { + "baseId": "48727|48728|48729|51571|197755|197764|227462|227463|360976|426112|433140|445379|464936|514051|539060|573381|609338|618252|916563|919572|919574|919575|919576|919577|919578|920345", + "text": "Marfan lipodystrophy syndrome" + }, + { + "baseId": "48870|54366|312577|312600|312622|312651|312653|312687|312749|318564|318579|318580|318581|318594|318704|324719|324725|324740|324752|324767|324809|324825|325443|325467|325552|325565|325687|325690|325697|353170|480738|977246", + "text": "Noonan-like syndrome" + }, + { + "baseId": "48930", + "text": "KRAS-related RASopathy" + }, + { + "baseId": "48983|360978|361092|581713|792733", + "text": "Pectus excavatum" + }, + { + "baseId": "48983|514137|590047|590048", + "text": "Brachycephaly" + }, + { + "baseId": "49024|186247|361010|361013|514076|514078|514080|590084|645561|801197", + "text": "Cafe-au-lait spot" + }, + { + "baseId": "49024|203232|263246|263251|263289|263307|263367|263421|362234|514184|801159|801191|905852|905853|905854|966299|971562", + "text": "Specific learning disability" + }, + { + "baseId": "49024|79397|205031|205755|205756|263388|263393|538627|550125|550227|553415|553417|581714|581715|610481|623598|679483|918185|918956|921254|921258|921260|965459|965500|970283|971286", + "text": "Intellectual disability, mild" + }, + { + "baseId": "49030|185546", + "text": "Embryonal rhabdomyosarcoma" + }, + { + "baseId": "49142", + "text": "Abnormality of the sternum" + }, + { + "baseId": "49152", + "text": "Abnormality of the aortic valve" + }, + { + "baseId": "49211", + "text": "MAP2K1-Related Disorder" + }, + { + "baseId": "49251", + "text": "MAP2K1-related RASopathy" + }, + { + "baseId": "49356|49357|451882", + "text": "Emery-Dreifuss muscular dystrophy 7, autosomal dominant" + }, + { + "baseId": "49379|75599|167370|375408|409617|465411|466365|466368|466369|466375|466382|505381|529271|529916|530415|530416|530418|574028|644589|644590|644591|644592|644593|644594|644595|644596|652840|653133|703634|714862|714863|714864|726585|726587|726588|740128|744831|755104|770851|770855|776157|776338|779764|785259|816336|843748|843749|843750|843751|843752|843753|843754|927774|927775|927776|927777|937412|937413|937414|949367|957732|961844|961845", + "text": "Immunodeficiency 8" + }, + { + "baseId": "49381|49382|463172|463174|463182|463309|527328|527331|527339|527867|565687|567033|567053|624462|641357|641358|641359|641360|641366|641367|641368|641369|641370|744912|769274|815927|840208|840209|840210|840215|840216|840217|840218|851521|926716|926717|926718|926719|936233|948135|948136|948137|956917|956920|961901", + "text": "Lymphoproliferative syndrome 2" + }, + { + "baseId": "49388|49389", + "text": "Amelogenesis imperfecta, type 1E, with snow-capped teeth" + }, + { + "baseId": "49468|49469|237348|297853|297865|297880|297886|297893|300033|300064|300065|300077|300079|300080|304247|304262|304278|304286|304297|304301|304309|304323|304597|304640|304652|304675|329605|339854|339860|339863|339865|339867|339871|339887|339895|339904|345597|346936|346948|346960|346961|346964|353452", + "text": "Acrodysostosis" + }, + { + "baseId": "49660|49660|77568|221757|231697", + "text": "Charcot-Marie-Tooth disease, dominant intermediate G" + }, + { + "baseId": "49759|861645", + "text": "SPG11-related spastic paraplegia" + }, + { + "baseId": "49826|497248|589819|654985", + "text": "Deafness-infertility syndrome" + }, + { + "baseId": "49829|613906|613909|613910|613954|613992|653998|653999|800683|962876", + "text": "16p11.2 deletion syndrome" + }, + { + "baseId": "49842|207165|454710", + "text": "Cutaneous malignant melanoma 9" + }, + { + "baseId": "49859|480538|480539|625868", + "text": "Microphthalmia, isolated, with coloboma 9" + }, + { + "baseId": "49877|453594|454044|454373|562287|651224|651281|698678|709506|744179|819503|829520|829521|829522|923621|932464", + "text": "Maple syrup urine disease, mild variant" + }, + { + "baseId": "49900|49922|152909|187250|237034|254152|254155|254157|254159|254160|254161|254163|361518|372380|444801|461106|461109|461112|461113|461115|461308|461310|461317|461322|461323|461326|461583|461587|461589|461600|461913|461915|526191|526199|526201|526207|526379|526380|526683|526697|564621|564624|565752|565764|567255|567258|567260|570639|570656|570662|640030|640031|640033|640040|640044|640045|640046|640048|640049|693022|693023|693024|693025|693026|693027|693028|693031|695512|695513|701756|701757|701761|724427|752667|778132|796572|820363|820364|820365|820366|838403|838404|838405|838406|838407|838408|838409|838410|838411|838412|838413|838414|838415|838416|838417|838418|838419|838420|838421|851839|852346|926226|926227|926228|926229|926230|926231|926232|926233|926234|926235|926236|926237|926238|935522|935523|935524|935525|935526|935527|935528|935529|935530|935531|935532|940995|940996|947446|947447|947448|947449|947450|947451|947452|947453|959987", + "text": "Myopathy with tubular aggregates" + }, + { + "baseId": "49900|49922|136636|136636|136636|152909|152909|187250|237034|237034|254152|254155|254157|254159|254160|254161|254163|361518|372380|444801|461105|461106|461109|461112|461113|461115|461115|461118|461120|461308|461310|461317|461322|461323|461326|461583|461587|461589|461591|461600|461610|461911|461913|461913|461915|526191|526197|526199|526201|526203|526207|526379|526380|526388|526683|526697|564617|564621|564624|564624|565728|565732|565739|565742|565752|565753|565754|565758|565764|567255|567256|567258|567260|567272|570635|570636|570639|570652|570656|570662|614358|640029|640030|640031|640032|640033|640034|640035|640036|640037|640038|640039|640040|640041|640042|640043|640044|640045|640046|640047|640048|640049|640050|652094|652546|693022|693023|693024|693025|693026|693027|693028|693031|695512|695513|701756|701757|701761|724427|752667|778132|796572|820363|820364|820365|820366|838403|838404|838405|838406|838407|838408|838409|838410|838411|838412|838413|838414|838415|838416|838417|838418|838419|838420|838421|851839|852346|926226|926227|926228|926229|926230|926231|926232|926233|926234|926235|926236|926237|926238|935522|935523|935524|935525|935526|935527|935528|935529|935530|935531|935532|940995|940996|947446|947447|947448|947449|947450|947451|947452|947453|959987|980467", + "text": "Stormorken syndrome" + }, + { + "baseId": "49916|49917|49918|513594|798625", + "text": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6" + }, + { + "baseId": "49919|250766|250767|440722|451384|451388|451542|451557|451743|451745|451747|451783|518508|518512|518657|560898|560900|560909|561884|630413|630414|651007|651084|691191|691192|695152|747745|819266|826912|826913|826914|826915|826916|826917|826918|826919|922900|931552|931553|931554|931555|960489", + "text": "Welander distal myopathy" + }, + { + "baseId": "49920|49921|49922|49923|136636|152909|187250|237034|461105|461115|461118|461120|461591|461610|461911|526197|526203|526388|564617|564624|565728|565732|565739|565742|565753|565754|565758|567256|567272|570635|570636|570652|614358|640029|640032|640034|640035|640036|640037|640038|640039|640041|640042|640043|640047|640050|652094|652546|980467", + "text": "Myopathy, tubular aggregate, 1" + }, + { + "baseId": "49924|49925|49927|49928|49929|97569|434631|626075|626076|626189|980172|980173", + "text": "Spastic paraplegia 46, autosomal recessive" + }, + { + "baseId": "49942|49975|132751|132752|137249|137269|139428|139436|150553|150761|151642|171099|171100", + "text": "Colorectal adenoma" + }, + { + "baseId": "49960|136497|137276|394289|482603|482654|550666|550669|550671|550676", + "text": "Neoplasm of the liver" + }, + { + "baseId": "50035|50077|50084|50085|50090|51666|94666|95079|95170|95380|95490|95574|95856|96135|96447|96518|96572|96587|96718|96735|96857|171168|171169|171170", + "text": "Colorectal cancer, non-polyposis" + }, + { + "baseId": "50129", + "text": "Primitive neuroectodermal tumor" + }, + { + "baseId": "50187", + "text": "Tuberous sclerosis and lymphangiomyomatosis" + }, + { + "baseId": "50218|50227", + "text": "Gastrointestinal polyposis" + }, + { + "baseId": "50229|50231|50232|50233|50236|50237|50239|50240|50241|138765|138767|215302|215302|221459|221463|239368|239372|239375|239390|239407|239412|239417|239420|239431|239433|239437|239439|239442|251491|251492|251493|251495|251496|251497|251499|293512|293521|293522|293526|293533|293538|293539|293544|293554|293556|293562|293567|293568|293572|293573|293576|293580|294903|294904|294927|294932|294935|294941|294942|294943|294946|294948|294963|294970|294972|294981|294984|294985|294986|294995|294997|295030|298604|298605|298606|298612|298613|298632|298634|298642|298643|298647|298650|298651|298654|298658|298659|298660|298661|298662|298663|298670|298671|298672|298673|298674|298675|298691|298699|298700|353670|393992|394406|394415|394441|394452|394454|520014|520342|691579|807745|890731|890732|890733|890734|890735|890736|890737|890738|890739|890740|890741|890742|890743|890744|890745|890746|890747|890748|890749|890750|890751|890752|890753|890754|890755|890756|890757|890758|890759|890760|891799|918897", + "text": "Idiopathic hypereosinophilic syndrome" + }, + { + "baseId": "50278|180168|239803", + "text": "B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy" + }, + { + "baseId": "50295", + "text": "Birt-Hogg-Dub syndrome" + }, + { + "baseId": "50318|983770", + "text": "Mitochondrial complex III deficiency, nuclear type 5" + }, + { + "baseId": "51080|51081|51082|51083|51084|209072|209073|209075|209076|209077|215663|225806|227711|243898|260331|265026|265165|267206|275125|362749|378376|411396|422489|425236|446686|471614|471616|471898|471899|472163|481507|481508|486482|508588|514280|534835|534894|535015|535016|535022|535025|535360|536192|572515|572522|572523|573896|574745|574746|574749|578594|611452|611949|614508|622945|623593|650096|650097|650098|650099|650100|650101|653458|653464|653526|653535|653717|654153|672119|677472|706254|729629|774092|786856|786857|789702|792467|792468|792469|792470|802052|821510|822227|850117|850118|850119|850120|850121|850122|852521|860890|920034|929758|929759|929760|939617|939618|939619|940564|941311|951817|951818|951819|951820|963983|964616|964617|964618|964905|971209", + "text": "Neurodegeneration with brain iron accumulation 5" + }, + { + "baseId": "51085|51086|206561|253860", + "text": "Albinism, oculocutaneous, type VII" + }, + { + "baseId": "51095|53399|53400|53401|53406|178210|312347|312350|318236|324369|325066|565481|798995|867042|867043", + "text": "Fatal infantile hypertonic myofibrillar myopathy" + }, + { + "baseId": "51095|56353|56430|56605|141530|177535|179133|188393|189935|196672|296809|301509|400363|497171|679364|679412", + "text": "Congestive heart failure" + }, + { + "baseId": "51100|51101|51102|51103|51104|51105|136728|136730|206771|249771|249772|364758|364760|364766|364776|364944|364947|364956|364958|364970|364979|405086|425344|442743|442744|447555|447569|447571|447717|447719|447725|447729|447800|447802|447806|447813|447814|447858|498413|498480|511249|514886|515512|515513|515568|515581|515583|515634|552041|556490|557122|557125|557128|557130|557179|557181|558361|558363|622859|627436|627437|627438|627439|627440|627441|627442|627443|627444|627445|627446|650515|650625|690516|758888|774473|789943|789944|818817|818934|823533|823534|823535|823536|823537|823538|823539|823540|823541|823542|823543|823544|823545|823546|823547|850753|921868|921869|930349|930350|930351|930352|930353|930354|930355|941782|952308|959545|960422", + "text": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11" + }, + { + "baseId": "51106|51107|221371|239118|393372|393433|393435|393436|393625|393809|451799|452192|452196|452204|452206|452308|452430|481390|518978|518991|519175|519180|519191|558850|558852|559387|559389|559391|561276|561278|561280|562587|562589|608986|631063|631064|631065|631066|631067|631068|631069|683568|686370|686371|686372|819355|827730|827731|827732|827733|827734|827735|827736|827737|827738|827739|827740|827741|827742|827743|923102|931844|931845|931846|940742|940743|943427", + "text": "Charcot-Marie-Tooth disease, dominant intermediate F" + }, + { + "baseId": "51108|51109|165610|207992|207994|207996|243991|429447|462458|463188|463312|463319|527347|527349|527362|527868|527870|564991|565710|565712|565713|565715|565717|567055|567056|572005|611776|641372|641373|641374|641375|641376|641377|641378|641379|641380|652162|652338|702493|702494|725258|738853|769299|784465|791273|820437|840235|840236|840237|840238|840239|840240|840241|840242|840243|840244|840245|926725|926726|926727|936245|936246|936247|936248|936249|936250|936251|948144|948145|956927|956928|956929", + "text": "Temtamy syndrome" + }, + { + "baseId": "51108|432205|432206|432209|432210", + "text": "Abnormality of the corpus callosum" + }, + { + "baseId": "51108", + "text": "Colobomatous microphthalmia" + }, + { + "baseId": "51151|51152|450279|450280|450440|560756", + "text": "Cataract 39, multiple types" + }, + { + "baseId": "51182|51183|227502|227503|513290|552112|552113|919069|919070|961650|965967", + "text": "Lissencephaly 5" + }, + { + "baseId": "51184|167412|205231|211767|243561|265656|265814|285543|288937|288967|288979|303125|303165|303174|309751|309760|311435|315004|315130|321064|322568|326827|332008|332014|332017|332035|336688|336694|338642|338986|340575|342933|344540|350562|350570|350576", + "text": "Spastic Paraplegia, Recessive" + }, + { + "baseId": "51184|402131", + "text": "Cerebral cortical atrophy" + }, + { + "baseId": "51184|59852|193488|327447|333616|488122|488126|488170|488177|488178|488179|488180|512780|800923|800924", + "text": "Optic nerve hypoplasia" + }, + { + "baseId": "51184|360920|551420|577714|613539", + "text": "Spastic ataxia" + }, + { + "baseId": "51185|51186|51186|51187|51187|51188|51188|51189|51189|51190|76342|76343|76344|76345|76346|76347|76347|188292|208708|208710|213932|390461|410840|410840|430376|430377|430378|430379|430380|430382|430383|430385|430386|430387|430388|430389|430389|430390|430391|430392|430392|430393|430395|430396|430400|430401|430403|430404|430405|430406|430410|430411|430412|430413|446303|469462|469467|469468|469469|469475|469476|469480|470503|470505|470509|470512|470520|470531|470533|471015|471019|471026|471031|471031|471034|471036|471038|471480|471484|471486|471490|471496|471499|471500|533655|533657|533661|533672|533675|533678|533684|533686|533689|533691|533696|533701|533702|533703|533703|533704|533705|533706|533707|533708|533710|533711|533712|533714|533715|533716|533717|533718|533719|533725|533731|533986|534219|534222|534230|534242|534246|534250|534252|534255|534259|534261|534264|534266|537009|548917|548919|548923|548928|548929|548929|548931|548933|548948|548948|548951|548957|548978|548980|548981|548981|548982|548983|548984|548988|548990|548991|548994|548996|548997|549003|549006|549011|549011|549015|549023|549027|549035|549040|549047|549054|549057|549059|549061|549066|549085|549086|549088|549213|549216|549217|549218|549220|549220|549222|549223|549223|549224|549229|549233|549236|549238|549239|549240|549242|549243|549244|549246|549247|549392|549393|549394|549395|549396|549397|549398|549399|549400|549401|549402|549403|549404|549405|549405|549406|549407|549408|549409|549409|549410|549411|549412|549413|549414|549415|571396|571397|571400|571404|572973|572975|572979|572980|573629|573630|573633|573634|573638|573644|573646|573648|573656|573663|573664|575134|575135|575136|575137|575138|614478|614479|614480|624688|648802|648803|648804|648805|648806|648807|648808|648809|648810|648811|648811|648812|648813|648814|648815|648816|648817|648817|648818|648819|648820|648821|648822|648823|648824|648825|648826|648827|648828|648829|648830|648831|648832|648833|648834|648835|648836|648837|648838|648839|648840|648841|648842|648843|648844|648845|648846|653131|653142|653224|653229|653563|653654|653655|705618|705619|717141|717143|717144|717145|728804|728806|728807|728809|728810|728811|728812|728813|728814|728815|731367|731368|731369|742532|742533|742534|742535|742536|742537|742538|742539|742540|742541|742542|742543|742544|742545|742546|742547|742548|745129|745321|745442|745443|757671|757672|757673|757674|757675|757676|757677|757678|757680|757681|757682|757683|757684|757685|757686|757687|757688|757689|757690|760697|760788|760964|760966|760969|773209|773211|773212|773213|773214|773215|773216|773217|773218|773220|773221|773222|773226|773227|773230|773231|773232|773235|773236|773238|773239|773240|773242|773243|773244|773247|773248|773249|773251|776668|776678|776704|776785|776789|776805|786432|786433|786436|786438|786439|786442|786443|786444|786445|786446|786447|786448|786452|786455|786456|786457|786459|786460|786461|786462|786463|788303|788345|788347|792003|821345|822281|848555|848556|848557|848558|848559|848560|848561|848562|848563|848564|848565|848566|848567|848568|848569|848570|848571|848572|848573|848574|848575|848576|848577|848578|848579|848580|848581|848582|848583|848584|848585|848586|848587|848588|848589|848590|848591|848592|848593|848594|848595|852912|906374|906380|929256|929257|929258|929259|929260|929261|929262|929263|939043|939044|939045|939046|939047|939048|939049|939050|939051|939052|939053|940513|940514|941255|951156|951157|951158|951159|951160|951161|951162|951163|951164|951165|951166|951167|951168|951169|951170|958874|958875|958876|958877|958878|958879|958880|958881|958882|958883|958884|958885|958886|958887|958888|958889|958890|958891|958892|958893|958894|958895|958896|958897|958897|958898|958899|958900|958901|958902|958903|958904|958905|958906|958907|958908|958909|958910|958911|958912|958913|958914|958915|958916|958917|960322|960323|960944|960945|960946|961985", + "text": "Dyskeratosis congenita, autosomal recessive, 5" + }, + { + "baseId": "51186|51186|51187|51188|51189|76347|188291|188292|188294|208708|213930|213931|213932|247417|410840|430376|430377|430378|430379|430380|430382|430383|430385|430386|430387|430388|430389|430390|430391|430392|430393|430395|430396|430400|430401|430403|430404|430405|430406|430410|430411|430412|430413|469462|469467|469468|469469|469475|469476|469480|470503|470505|470509|470512|470520|470531|470533|471015|471019|471026|471031|471031|471034|471036|471038|471480|471484|471486|471490|471496|471499|471500|533655|533657|533661|533672|533675|533678|533684|533686|533689|533691|533696|533701|533702|533703|533704|533705|533706|533707|533708|533710|533711|533712|533714|533715|533716|533717|533718|533719|533725|533731|533986|534219|534222|534230|534242|534246|534250|534252|534255|534259|534261|534264|534266|537009|548929|548948|548981|549011|549220|549223|549405|549409|571396|571397|571400|571404|572973|572975|572979|572980|573629|573630|573633|573634|573638|573644|573646|573648|573656|573663|573664|575134|575135|575136|575137|575138|614478|614479|614480|624688|648802|648803|648804|648805|648806|648807|648808|648809|648810|648811|648812|648813|648814|648815|648816|648817|648818|648819|648819|648820|648821|648822|648823|648824|648825|648826|648827|648828|648829|648830|648831|648832|648833|648834|648835|648836|648837|648838|648839|648840|648841|648842|648843|648844|648845|648846|653131|653142|653224|653229|653563|653654|653655|705618|705619|717141|717143|717144|717145|728804|728806|728807|728809|728810|728811|728812|728813|728814|728815|731367|731368|731369|742532|742533|742534|742535|742536|742537|742538|742539|742540|742541|742542|742543|742544|742545|742546|742547|742548|745129|745321|745442|745443|757671|757672|757673|757674|757675|757676|757677|757678|757680|757681|757682|757683|757684|757685|757686|757687|757688|757689|757690|760697|760788|760964|760966|760969|773209|773211|773212|773213|773214|773215|773216|773217|773218|773220|773221|773222|773226|773227|773230|773231|773232|773235|773236|773238|773239|773240|773242|773243|773244|773247|773248|773249|773251|776668|776678|776704|776785|776789|776805|786432|786433|786436|786438|786439|786442|786443|786444|786445|786446|786447|786448|786452|786455|786456|786457|786459|786460|786461|786462|786463|788303|788345|788347|804868|821345|822281|848555|848556|848557|848558|848559|848560|848561|848562|848563|848564|848565|848566|848567|848568|848569|848570|848571|848572|848573|848574|848575|848576|848577|848578|848579|848580|848581|848582|848582|848583|848584|848585|848586|848587|848588|848589|848590|848591|848592|848593|848594|848595|852912|929256|929257|929258|929259|929260|929261|929262|929263|939043|939044|939045|939046|939047|939048|939049|939050|939051|939052|939053|940513|940514|941255|951156|951157|951158|951159|951160|951161|951162|951163|951164|951165|951166|951167|951168|951169|951170|958874|958875|958876|958877|958878|958879|958880|958881|958882|958883|958884|958885|958886|958887|958888|958889|958890|958891|958892|958893|958894|958895|958896|958897|958898|958899|958900|958901|958902|958903|958904|958905|958906|958907|958908|958909|958910|958911|958912|958913|958914|958915|958916|958917|960322|960323|960944|960945|960946|962184|965238|969618|971585", + "text": "Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3" + }, + { + "baseId": "51193|51194|51195|51196|51197|51198|508727|615559|654100|654103|654104|654105|654106|654107|654108|654109|654110", + "text": "Platelet-type bleeding disorder 15" + }, + { + "baseId": "51200|98568|251489|266485|267097|267280|268739|269058|269397|270198|272523|293475|293476|293478|293479|293480|293486|293491|293493|293494|293499|293507|293508|294872|294875|294888|294889|294890|294899|294900|294902|298547|298552|298560|298561|298564|298568|298569|298571|298572|298573|298574|298581|298585|298586|298590|298594|298599|298600|298618|298620|298621|298630|369115|490406|500997|563765|698542|748960|890699|890700|890701|890702|890703|890704|890705|890706|890707|890708|890709|890710|890711|890712|890713|890714|890715|890716|890717|890718|890719|890720|890721|890722|890723|890724|890725|890726|890727|890728|890729|890730", + "text": "Qualitative or quantitative defects of beta-sarcoglycan" + }, + { + "baseId": "51215|256610|256611|256612|256613|256614|256615|256617|268010|269481|274819|330874|330878|330881|330882|330883|330892|330907|330910|330913|330915|330916|330917|330921|330923|330927|330928|330930|330931|330936|341171|341173|341180|341182|341183|341185|341192|341197|341198|341200|341201|341206|341207|341209|341211|341213|341215|346709|346712|346713|346716|346721|346727|346728|346734|346735|346737|346738|346747|346749|346750|346751|346752|347984|347985|347986|347990|347995|347999|348001|348014|348017|348019|348020|348028|348030|348036|348040|445947|548665|715911|727663|727664|727665|741319|741321|741323|741324|756407|785857|878995|878996|878997|878998|878999|879000|879001|879002|879003|879004|879005|879006|879007|879008|879009|879010|879011|879012|879013|879014|879015|879016|879017|879018|879019|879020|879021|879022|879023|879024|879025|879026|879027|879028|880639|880640|880641", + "text": "Laryngo-onycho-cutaneous syndrome" + }, + { + "baseId": "51273|226148|540439|918616|920140", + "text": "Myopathy, scapulohumeroperoneal" + }, + { + "baseId": "51363|51364|51365|51366|51367|51368|677322", + "text": "Combined d-2- and l-2-hydroxyglutaric aciduria" + }, + { + "baseId": "51369|51370|226952|226953|226953|247115|390111|465591|466309|466311|466580|466583|529863|529864|529866|529869|529878|529882|529960|529962|529966|529967|530202|530397|568040|570050|570062|570067|614421|625911|644513|644514|644515|644516|644517|644518|644519|644520|644521|644522|644523|644524|644525|644526|644527|644528|644529|714820|726521|740048|740049|740050|740051|755049|770804|770806|770807|770813|785237|785238|785239|788045|843671|843672|843673|843674|843675|843676|843677|843678|843679|843680|843681|843682|843683|843684|843685|843686|843687|843688|843689|843690|927750|927751|927752|927753|927754|927755|927756|937393|937394|937395|937396|949336|949337|949338|949339|949340|949341|949342|949343|949344|957716|961967|964448", + "text": "IL21R immunodeficiency" + }, + { + "baseId": "51396", + "text": "Deafness, sensorineural, with neurologic features" + }, + { + "baseId": "51429|51431|51440|143093|339057|348271|352158|352159|352160|352795|352796|352797|446585|902885|902886|902887|902888|902889|902890|902891|903462", + "text": "Endocardial fibroelastosis" + }, + { + "baseId": "51515|193009|672095", + "text": "FBN1-Related Disorders" + }, + { + "baseId": "51634|177172|178306|214012|214013|214014|214015|214016|214017|214018|214019|214020|214021|214022|214023|214024|214025|214026|214027|214028|214029|214030|214031|214032|214033|214034|214035|214036|214037|214038|214039|214040|214041|214042|214043|214044|214045|214046|214047|214048|214049|214050|214051|214052|214053|214054", + "text": "Deoxygalactonojirimycin response" + }, + { + "baseId": "51643|51644|51645|51646|51647|51648|51650|51651|51652|51653|141298|152780|152781|210309|210310|210324|210334|210341|257314|257316|257324|259048|269659|271031|271733|273271|273422|273773|334790|334791|334796|334797|334800|334804|334808|334812|334813|334815|334819|334821|334822|344656|344669|344671|344672|344673|344674|344677|344685|344686|344688|344690|344692|344693|344701|344702|349635|349640|349645|349648|349651|349654|349655|349657|349658|349662|349667|349670|349672|349674|349678|349679|349681|350650|350651|350653|350654|350657|350659|350661|350663|350665|350668|350669|350671|350673|350674|350676|350677|350678|350680|350683|353581|491938|492576|493267|508047|533476|585063|585130|586838|587022|587857|589584|589729|684863|684864|689184|885797|885798|885799|885800|885801|885802|885803|885804|885805|885806|885807|885808|885809|885810|885811|885812|885813|885814|885815|885816|885817|885818|885819|885820|885821|885822|885823|885824|885825|885826|885827|885828|887424|887425|887426|887427", + "text": "Isolated Nonsyndromic Congenital Heart Disease" + }, + { + "baseId": "51661|54552|67638|77926|141708|225795|259021|276309|276310|276314|276317|276536|276945|276976|277085|313787|313794|313799|313800|313812|313813|313817|316673|316678|319980|319984|319986|319987|319988|320021|320022|320025|324153|326169|326170|326178|326190|326206|326214|327120|327127|327130|329620|329636|329643|329650|329654|329660|329663|329672|329675|330167|330174|339908|339921|339927|339929|339930|345653|345672|345676|345677|347000|347021|347026|350563|353057|353058|353249|481127", + "text": "Familial atrial fibrillation" + }, + { + "baseId": "51710|51755|171133|174776|179192", + "text": "MYBPC3-Related Disorders" + }, + { + "baseId": "51720|54894|54903|172501|179136|302201|302204|302207|302210|302214|302217|302218|302225|305395|305441|305446|305448|305449|305450|305452|310209|310230|310235|310322|310359|442590", + "text": "Wolff-Parkinson-White syndrome" + }, + { + "baseId": "51796|51841|224525|858248", + "text": "Paroxysmal atrial fibrillation" + }, + { + "baseId": "51983|53540|54200|56467|56533|57079|240750|552686|679394", + "text": "Premature ventricular contraction" + }, + { + "baseId": "52056|52082|136656|136657|136658|136659|136660|136661|136662|136663|136664|136665|136666|136667|136668|136669|136670|136671|136672|136673|136674|136675|136676|136677|136678|136679|136680|136681|136682|136683|136684|136685|136686|136687|171746|171747|198165", + "text": "Familial cardiomyopathy" + }, + { + "baseId": "52101|52119|179712|186460|189951|224471|320364|320376|320380|328973|328987|328990|335627|335628|335649|337484|353295", + "text": "Scapuloperoneal myopathy" + }, + { + "baseId": "52138|550125", + "text": "Ebstein anomaly of the tricuspid valve" + }, + { + "baseId": "52162|52199|175456|179576|328979|464003|622423|622424|626226", + "text": "MYH7-Related Disorders" + }, + { + "baseId": "52388|52400|52458|52469|52470|52499|175522|176880|178187|231427|546607|620421|620422|620837", + "text": "MYO7A-Related Disorders" + }, + { + "baseId": "52751|52754|53059|176596|209906|209931|209933|209941|303340|303342|303359|306689|306717|306729|306752|306756|311559|311572|311575|311577|311596|311730", + "text": "Cutis laxa, autosomal dominant" + }, + { + "baseId": "52776|52778|52780|174084|174266|229605|276776|276786|276789|277042|277056|277061|277062|277074|277618|277644|277648|277682|277773|295695|296825|297461|301338|301342|301378|301380|301529|302594|302601|302624|302626|302958|303467|303469|303470|305956|305958|306872|306885|306886|310679|310696|311719|311744|311745|311765|311776|311777|311802|311804|311807|311808|353811|353820", + "text": "Nonsyndromic Hearing Loss, Mixed" + }, + { + "baseId": "52836", + "text": "TNNT2-Related Cardiomyopathy" + }, + { + "baseId": "52844|55764|56038|56684|56803|56978|78464|173316|173342|188401|189319|198532", + "text": "Supraventricular tachycardia" + }, + { + "baseId": "52998|54768", + "text": "Dilated cardiomyopathy with left ventricular noncompaction" + }, + { + "baseId": "53080|172928|187391|187393|187394", + "text": "Familial hypertrophic cardiomyopathy 23" + }, + { + "baseId": "53186|56440|78495", + "text": "Familial dilated cardiomyopathy and peripheral neuropathy" + }, + { + "baseId": "53320|53321|53325|53327|176924|178142|181536|185765|248693|248694|248695|248696|248697|248698|248699|275973|275974|275979|275984|275985|275990|275991|275992|275993|276005|276006|276011|276018|276019|276020|276023|276024|276029|276030|276031|276037|276052|276053|276056|276186|276188|276189|276198|276199|276201|276202|276204|276205|276221|276222|276230|276231|276234|276235|276236|276237|276244|276246|276247|276248|276249|276251|276252|276254|276255|276256|276257|276261|276262|276263|276264|276266|276271|276272|276308|276316|276323|276330|276331|276335|276336|276337|276339|276345|276364|276379|276383|276384|276385|276388|276393|276394|276395|276396|276397|276398|276406|276408|276409|276410|276434|276435|276437|276446|276447|276450|276453|276454|276457|276458|276459|276460|276461|276462|276463|276478|276479|276480|276483|276489|276491|276492|276493|276494|276503|276508|276513|276517|276524|276525|276526|276527|276533|276537|276549|276563|276564|276578|353050|438861|439303|509057|509058|509059|509060|614554|682205|682206|682207|682208|682324|682325|682326|682345|696006|706602|718118|731600|731602|789823|789824|857416|857417|857418|857419|857420|862015|862016|862017|862018|862019|862020|862021|862022|862023|862024|862025|862026|862027|862028|862029|862030|862031|862032|862033|862034|862035|862036|862037|862038|862039|862040|862041|862042|862043|862044|862045|862046|862047|862048|862049|862050|862051|862052|862053|862054|862055|862056|862057|862058|862059|862060|862061|862062|862063|862064|862065|862066|862067|862068|862069|862070|862071|862072|862073|862074|862075|862076|862077", + "text": "Neural tube defect" + }, + { + "baseId": "53320|53321|53325|53327|275991|276029|276056|276188|276237|276249|276254|276255|276264|276266|276271|276272|276308|276330|276345|276410|276434|276459|276513|276524|276578|353050", + "text": "Caudal dysgenesis syndrome" + }, + { + "baseId": "53386", + "text": "ACTA2-Related Disorders" + }, + { + "baseId": "53440|284793|353560", + "text": "Scapuloperoneal weakness" + }, + { + "baseId": "53506|53508|53509|53510|53513|53514|53515|53516|53517|53521|53523|53524|53527|53528|53532|53533|53534|53535|53537|53538|53540|53541|53542|53543|53544|53545|53546|53547|53548|53549|53550|53551|53552|53553|53554|53556|53560|53562|53563|53564|53565|53566|53567|53568|53569|53570|53571|53572|53573|53574|53575|53577|53578|53579|53580|59492|59493|141769|176848|176849|176853|176856|176858|178202|178203|178204|178217|178219|178221|178222|178223|178224|178225|178226|178227|178228|178229|178259|178545|178547|189788|189790|189798|189801|189805|191535|194052|209864|209865|209867|209870|209873|209878|209879|209882|209884|209886|209890|209891|209896|209898|209900|209903|224309|224311|226789|231310|231354|231358|231362|231363|231410|231411|231414|231415|239871|239873|239874|258424|258435|368291|368657|370076|395019|395020|395023|395024|395027|395187|395193|395358|395360|395364|395645|395648|395649|395651|406791|415018|425655|425656|443846|443850|443852|455155|455157|455291|455298|455781|455798|455799|456035|456038|456039|456042|481127|497905|501079|501082|501338|508810|508811|508812|508813|508814|508815|509765|509767|509771|509774|509776|509778|521306|521313|521317|521320|521328|521334|521607|521609|521613|521615|521687|521689|521691|521693|521696|521945|521947|521950|521951|521954|521955|521957|560538|560540|560542|560544|563321|563323|565321|565328|565336|565340|609612|623083|626154|634496|634497|634498|634499|634500|634501|634502|634503|634504|634505|634506|634507|634508|634509|634510|634511|651576|683754|686782|686784|691899|765438|765440|799434|819642|831421|831422|831423|831424|831425|831426|831427|831428|831429|831430|831431|831432|831433|831434|831435|831436|831437|831438|831439|831440|831441|831442|831443|831444|831445|831446|831447|831448|831449|831450|831451|831452|831453|920219|920220|924223|924224|924225|924226|924227|933128|933129|933130|933131|933132|933133|933134|933135|933136|933137|933138|933139|933140|940026|940027|940831|940832|944854|944855|944856|944857|944858|944859|944860|954326|954327|954328|954329|954330|981514", + "text": "Dilated cardiomyopathy 1JJ" + }, + { + "baseId": "53814|244523|268997|272211|277216|277906|278016|280737|282123|282137|282192|305882|309947|315140|315160|315209|315217|315221|315300|342546|342554|353066", + "text": "Charcot-Marie-Tooth, Intermediate" + }, + { + "baseId": "53818|171083|171185|540614|540615", + "text": "Congenital aneurysm of ascending aorta" + }, + { + "baseId": "53818", + "text": "Dilatation of the thoracic aorta" + }, + { + "baseId": "53818", + "text": "Thoracic aortic dissection" + }, + { + "baseId": "54023", + "text": "DSP-related arrhythmogenic cardiomyopathy" + }, + { + "baseId": "54098|77203|171102|360852|360853|513891|513948", + "text": "Palmoplantar blistering" + }, + { + "baseId": "54098|77203|171102|513948", + "text": "Skin fragility with non-scarring blistering" + }, + { + "baseId": "54106|189307|189921|306649|310846|310847|316366|316595|316596|316597|316605|316606|316607|567976", + "text": "Amyloidosis" + }, + { + "baseId": "54134|167520|167521|167522|173858|359032|359033|359034", + "text": "Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis" + }, + { + "baseId": "54202|679379", + "text": "Family history of cardiomyopathy" + }, + { + "baseId": "54291", + "text": "cetuximab response - Dosage" + }, + { + "baseId": "54291", + "text": "panitumumab response - Dosage" + }, + { + "baseId": "54381|54382|54383|81088|173573|173574|173578|173709|173712|173714|173715|173718|181418|191802|214405|214406|229286|229290|229293|229294|229295|270875|295686|297502|297513|301380|301553|301554|301561|301578|438303|443695|454665|454670|454672|454746|454761|454764|455210|455215|455217|455226|455233|455477|455489|455498|455512|496385|496801|513276|520821|520822|520827|520836|521067|521070|521087|521216|521222|521223|521225|521229|521231|521233|521269|521271|521279|521285|538984|560175|560177|560284|560286|560288|560290|560292|562894|562898|562901|564862|564863|564864|564865|564870|584463|614130|633524|633525|633526|633527|633528|633529|633530|633531|633532|633533|633534|633535|633536|633537|633538|633539|633540|633541|633542|633543|698878|709681|721262|749277|749278|764930|764931|775018|777433|779083|782193|789116|801810|819562|830402|830403|830404|830405|830406|830407|830408|830409|830410|830411|830412|830413|830414|830415|830416|830417|830418|830419|830420|830421|893131|923904|923905|923906|923907|923908|923909|923910|923911|923912|923913|923914|923915|932748|932749|932750|932751|932752|944433|944434|944435|944436|944437|944439|944440|954062|954063|954064|954065|954066|954067", + "text": "Seizures, cortical blindness, and microcephaly syndrome" + }, + { + "baseId": "54481|54482|54484|54486|54489|54490|54491|54492|54496|54497|54498|54499|54501|54502|54503|54505|54506|54507|54508|54509|89105|175072|175073|175074|175075|175076|175081|175082|175082|175083|175086|175090|175091|175348|175351|175352|175354|175359|175361|175366|229977|229980|229983|229990|229993|229994|229999|230001|230004|237610|273542|312810|312811|312812|312818|312829|312830|312835|312839|312841|312846|312851|312852|312853|312857|318828|318835|318836|318859|318870|318882|318883|318889|318898|324933|324943|324948|324959|324960|324961|324966|324969|324970|324971|324978|324982|324992|325005|325006|325011|325783|325803|325813|325818|325819|325820|325823|325828|325856|325862|325864|325867|325869|325870|325874|325878|389239|389963|404795|421833|489962|493527|553262|553263|553264|610568|615812|654629|654630|654637|752490|802076|805095|859843|867348|867349|867350|867351|867352|867353|867354|867355|867356|867357|867358|867359|867360|867361|867362|867363|867364|867365|867366|867367|867368|867369|867370|867371|867372|867373|867374|867375|867376|867377|867378|867379", + "text": "Deafness, autosomal recessive 21" + }, + { + "baseId": "54790|54796|54797|54801|54804|140104|140107|175330|198349|198350|323868|503859|508855|512843|512845", + "text": "Congenital total pulmonary venous return anomaly" + }, + { + "baseId": "54790|54792|54793|54795|54796|54798|54800|54804|175049|175051|175330|189882|189885|196016|198335|198339|198345|198346|198347|198348|198351|198352|229953|258679|317236|397731|460328|460388|460682|460685|461152|495460|510249|511101|525611|525613|525816|525819|525949|525952|564054|564918|564921|566613|566615|566620|639305|639306|639307|639308|639309|639310|652346|837474|837475|837476|837477|837478|837479|851399|925976|935234|940187|940973|947132|956272|956273|960734", + "text": "ANKRD1-related dilated cardiomyopathy" + }, + { + "baseId": "54890", + "text": "PRKAG2-Related Disorders" + }, + { + "baseId": "55056|535235|535236", + "text": "Non-Syndromic Hereditary Hearing Impairment" + }, + { + "baseId": "55205|204061|205216|205458|247331|260847|265019|360151|420147|427753|428945|495885|511271|512539|521026|535230|540496|581716|590972|590973|590974|590975|590976|590977|590978|590979|590980|590981|590982|590983|676961|714860|740123|805074|805220|971479|972619|972620|972621|972622|972623|972624|972625|972626|972627|972628|972629|972630|972631|972632|972633|972634|972635|972636|972637|972638|972639|972640|972641|972642|972643|972644|972645|972646|972647|972648|972649|972650|972651|972652|972653|972654|972655|972656|972657|972658|972659|972660|972661|972662|972663|972664|972665|972666|972667|972668|972669|972670|972671|972672|972673|972674|972675|972676|972677|972678|972679|972680|972681|972682|972683|972684|972685|972686|972687|972688|972689|972690|972691|972692|972693|972694|972695|972696|972697|972698|972699|972700|972701|972702|972703|972704|972705|972706|972707|972708", + "text": "Neurodevelopmental abnormality" + }, + { + "baseId": "55236|55237|55239|55244|55245|55246|55247|99987|137043|175007|175287|175289|253830|310742|310745|310771|310806|310808|310811|316006|316010|316044|316047|316063|322088|322102|322108|322109|322165|322166|322713|322714|322725|322726|322738|322776|353137|353139|353147|353148|353153", + "text": "Atypical Gaucher Disease" + }, + { + "baseId": "55321|78664|173755|173788|199000|199104|199701|442773|621161|631896|914872|965300|965303", + "text": "Sudden cardiac arrest" + }, + { + "baseId": "55719|55720|55721|55722|55723|55724|55725|55726|55727|55729|55730|55731|55732|55733|55734|55735|174359|174360|174361|174362|174365|174367|174368|174371|174374|174376|174497|174500|174501|177630|193796|194635|194896|194897|195091|195498|227296|229440|229442|229444|229445|229447|229448|229452|229455|229456|229462|229465|229466|229470|229475|229479|252334|266947|270741|275654|275676|275681|275684|275690|275704|275711|275712|275718|275727|275732|275740|299883|299889|299892|299895|299897|299899|299901|299904|299906|302506|302507|302508|302511|302512|302513|302522|302532|302534|302535|302536|302537|306913|306914|306916|306917|306918|306919|306922|306923|306924|306925|306926|306934|306935|307189|307191|307199|307200|307201|307202|307207|307208|307211|307213|307214|331094|331165|353246|353769", + "text": "Stickler Syndrome, Dominant" + }, + { + "baseId": "55808|55947|172698|173473|198685|199454|224987|225089|225112|268495|269201|273235|285948|443093|489806|511068|513516|538958|608943|620038|620039|620040|620041|620736|626120|788744|961256", + "text": "TTN-Related Disorders" + }, + { + "baseId": "56032|56625|168985|173089|198566|205422|205423|205424|205425|205426|205427|205428|205429|205430|205431|205432|205433|205434|205437|205438|205439|205440|205441|205442|205445|205446|205447|205448|205449|205450|205451|205452|205453|205456|205457|205461|205462|205463|205464|205465|205466|205467|205468|205469|205470|205473|205474|205475|205476|205477|205478|205479|205482|205483|205484|205485|205486|205487|205488|205489|205490|205493|205494|205495|205496|205497|205498|205499|205500|205501|205502|205503|205504|205505|205506|205507|205508|205509|205510|205511|205512|205513|205514|205515|205516|205517|205518|205519|205520|205521|205522|205523|205524|205525|205526|205527|205528|205529|205530|205531|215664|553412|578035|679574|679575|679576|679577", + "text": "Abnormality of neuronal migration" + }, + { + "baseId": "57216", + "text": "Insulin resistance syndrome, type A" + }, + { + "baseId": "57463|142741|171118|173790|173931|178523|214482|214485|224269|290242|290243|290244|290254|290271|290276|291029|291030|291039|291040|291049|291066|291078|291087|291088|291095|294310|294320|294337|294342|294384|294386|294391|294399|294413|294701|294707|294717|294718|294722|294738", + "text": "Paroxysmal familial ventricular fibrillation" + }, + { + "baseId": "57463|142741|173790|173931|178523|224269|290242|290243|290244|290254|290271|290276|291029|291030|291039|291040|291049|291066|291078|291087|291088|291095|294310|294320|294337|294342|294384|294386|294391|294399|294413|294701|294707|294717|294718|294722|294738|334065|343988|350201|353517|424552", + "text": "Progressive familial heart block" + }, + { + "baseId": "57808|75301|165812|165813|168532|168534|168535|359705|363137|428463|433821|455054|455232|455235|455691|455694|455697|455946|521519|521583|521589|521590|521845|560361|560363|560365|563199|565168|576118|612709|614289|633995|633996|633997|633998|651333|721506|735163|749563|749564|759604|765179|765180|765182|765185|779323|782328|815949|830918|830919|830920|830921|830922|830923|830924|830925|830926|830927|830928|830929|830930|830931|830932|830933|830934|852216|924094|924095|924096|932938|932939|932940|940007|944643|954185|954186|954187|959770", + "text": "Agammaglobulinemia 7, autosomal recessive" + }, + { + "baseId": "57809|57810|57810|81549|137523|137524|137525|137526|137527|137528|137530|137531|137532|137538|137539|137540|137541|137542|137543|137545|181280|199872|415098|428708|456684|456695|457131|457131|457133|457138|457139|457303|457306|457315|457320|457326|457729|457730|457732|457747|522626|522630|522886|522887|522889|522894|522896|522899|522902|523022|523025|523044|523046|523048|523052|523067|523266|523274|523280|523282|523285|553384|561544|561557|561563|561896|561899|561899|561901|561902|561903|561910|564278|564286|564288|566808|566815|566817|566819|566821|614312|614313|636095|636096|636097|636098|636099|636100|636101|636102|636103|636104|636105|636106|636107|636108|636109|636110|636111|636112|636113|636114|636115|636116|636117|636118|636119|636120|636121|636122|651671|651708|651805|700026|700027|710961|710962|710963|710964|710965|710966|710967|710968|722486|722487|722488|722489|736108|750604|750606|750610|759666|766250|766251|766253|766256|779229|787509|796030|819867|819868|819869|833539|833540|833541|833542|833543|833544|833545|833546|833547|833548|833549|833550|833551|833552|833553|833554|833555|833556|851642|852086|852360|859603|924835|924836|924837|924838|933858|933859|933860|933861|933862|933863|933864|933865|933866|945605|945606|945607|945608|945609|945610|945611|945612|945613|945614|945615|955137|955138|955139|955140|955141|955142|955143|955144|961953|970856", + "text": "B-cell expansion with NFKB and T-cell anergy" + }, + { + "baseId": "57810|57811|57812|81549|137523|137524|137525|137526|137527|137528|137530|137531|137532|137538|137539|137540|137541|137542|137543|137545|415098|428708|456684|456695|457131|457131|457133|457138|457139|457303|457306|457315|457320|457326|457729|457730|457732|457747|522626|522630|522886|522887|522889|522894|522896|522899|522902|523022|523025|523044|523046|523048|523052|523067|523266|523274|523280|523282|523285|553384|561544|561557|561563|561896|561899|561899|561901|561902|561903|561910|564278|564286|564288|566808|566815|566817|566819|566821|614312|614313|624739|636095|636096|636097|636098|636099|636100|636101|636102|636103|636104|636105|636106|636107|636108|636109|636110|636111|636112|636113|636114|636115|636116|636117|636118|636119|636120|636121|636122|651671|651708|651805|700026|700027|710961|710962|710963|710964|710965|710966|710967|710968|722486|722487|722488|722489|736108|750604|750606|750610|759666|766250|766251|766253|766256|779229|787509|790718|796030|819867|819868|819869|833539|833540|833541|833542|833543|833544|833545|833546|833547|833548|833549|833550|833551|833552|833553|833554|833555|833556|851642|852086|852360|859603|924835|924836|924837|924838|933858|933859|933860|933861|933862|933863|933864|933865|933866|945605|945606|945607|945608|945609|945610|945611|945612|945613|945614|945615|955137|955138|955139|955140|955141|955142|955143|955144", + "text": "Immunodeficiency 11" + }, + { + "baseId": "57813", + "text": "Ataxia-oculomotor apraxia 3" + }, + { + "baseId": "58105", + "text": "Cardiac rhabdomyoma" + }, + { + "baseId": "58105|360986", + "text": "Hamartoma" + }, + { + "baseId": "58133|360989|513953|514057|679672|679678", + "text": "Multiple renal cysts" + }, + { + "baseId": "58133|360908|360985|567807", + "text": "Cortical tubers" + }, + { + "baseId": "58297", + "text": "Renal cortical cysts" + }, + { + "baseId": "58297|181426", + "text": "Cortical dysplasia" + }, + { + "baseId": "58496|76175", + "text": "Everolimus response" + }, + { + "baseId": "58541|152569|215257", + "text": "Ganglioneuroblastoma" + }, + { + "baseId": "59193|243988|263247|459805|460363|460379|460383|460385|460387|460391|460393|460398|460399|460403|460427|460428|460715|460716|460722|460724|460726|460731|461183|461186|461188|461191|461194|461201|514032|525561|525565|525569|525572|525637|525639|525647|525651|525655|525827|525828|525830|525971|525974|525980|525986|551695|551753|564069|564072|564074|564076|564083|564954|564955|566664|566665|566671|566677|566681|569917|569918|569922|590093|639339|639340|639341|639342|639343|639344|639345|639346|639347|639348|652171|679509|679510|679511|679512|679513|692910|692911|701497|701498|712541|737665|737666|737667|768088|801130|822298|837544|837545|837546|837547|837548|837549|837550|837551|837552|837553|837554|837555|837556|837557|837558|837559|837560|837561|837562|837563|852287|861283|925991|925992|925993|925994|925995|935260|935261|947163|947164|947165|947166|947167|947168|956293|956294|956295|960738", + "text": "Infantile spasms" + }, + { + "baseId": "59373|199976|205159|207647|513296|538631|538632|538633|538634|626185|626313|736960|792778|818265|818266|917769|917777|963152|970223|980933", + "text": "Hydrocephalus, congenital, 2, with or without brain or eye anomalies" + }, + { + "baseId": "59374|59375|59376|59377|59458|205774|623182|626227|626228|904123|917820|919527", + "text": "Mitochondrial complex 1 deficiency, nuclear type 21" + }, + { + "baseId": "59381|59382|59383|59386|59387|227393|361018|361019|404831|404832", + "text": "Platelet-type bleeding disorder 16" + }, + { + "baseId": "59384|59385|292267|292268|292269|292273|292279|292281|292286|292290|292297|292299|292304|292307|293718|293726|293727|293728|293730|293731|293735|293738|293740|293741|293742|297014|297018|297019|297020|297021|297029|297058|297062|297070|297071|297076|297079|413915|413916|413917|413918|590521|748750|890116|890117|890118|890119|890120|890121|890122|890123|890124|890125|890126|890127|890128|890129|890130|890131|890132|890133|890134|890135|890136|890137|890138|890139|890140|890141|890142|890143", + "text": "Smith-McCort dysplasia 2" + }, + { + "baseId": "59388|59389|59390|59391|205272|226931|481499|653880|791191|818141|818142|858308|919404|972791|972792", + "text": "Kaufman oculocerebrofacial syndrome" + }, + { + "baseId": "59404|59405|59406|59407|59408|59409|178389|481176|583117|861573", + "text": "Osteogenesis imperfecta, type xv" + }, + { + "baseId": "59404|59410|65585", + "text": "Bone mineral density quantitative trait locus 16" + }, + { + "baseId": "59409|132441|335022|535387|535388|535389|535390|535391|535392|535393|535394|535395|535396|535397", + "text": "Keratoconus" + }, + { + "baseId": "59435", + "text": "Postaxial polydactyly type A6" + }, + { + "baseId": "59456", + "text": "Abruzzo-Erickson syndrome" + }, + { + "baseId": "59457|227395|362180|362181|380163|791794", + "text": "Palmoplantar carcinoma, multiple self-healing" + }, + { + "baseId": "59478", + "text": "Mitochondrial complex v (atp synthase) deficiency, nuclear type 4" + }, + { + "baseId": "59487|611402", + "text": "Schizophrenia 18" + }, + { + "baseId": "59488|59489|59490|139386|139387|139388|226657|243816|243817|361244|378363|379305|379431|379432|404303|404397|404580|404583|446897|470863|470870|471896|472162|508136|508287|534385|534826|534857|535012|535179|535180|573892|575427|578006|581116|581117|622952|626297|650091|650092|650093|650094|650095|685020|685022|689525|774088|786855|792464|792465|792466|798316|798317|802051|850109|850110|850111|850112|850113|850114|850115|850116|852984|929757|939613|939614|939615|939616|951816|973049|983308", + "text": "SLC35A2-CDG" + }, + { + "baseId": "59491|99989|177261|190406|190408|190409|192345|204535|204536|204537|204538|204539|204540|204541|204542|204543|204544|204545|204546|204547|204548|204549|204550|204551|204552|204553|204554|204555|204556|204557|204558|204559|204560|204561|204562|204563|204564|204565|204566|857383", + "text": "Retinitis pigmentosa 66" + }, + { + "baseId": "59495", + "text": "Hypochromic microcytic anemia with iron overload 2" + }, + { + "baseId": "59505|59506|59507|59508|225799", + "text": "Intestinal pseudo-obstruction" + }, + { + "baseId": "59522", + "text": "Familial partial lipodystrophy 5" + }, + { + "baseId": "59540|150285|150286", + "text": "Nephrotic syndrome, type 8" + }, + { + "baseId": "59541|59542|59543|59544|59545|682817|791135|791136|791137|791138|815994|815995|919360", + "text": "Hyperphosphatasia with mental retardation syndrome 3" + }, + { + "baseId": "59642|59643|150258|150259|150260|150261|150262|188215|188216|188217|188218|188219|188220|188221|188222|188223|268384|268385|353890|367334|434519|434520|438765|438903|450927|450932|451033|451037|451039|451041|451045|451047|451225|451226|451238|451239|451241|451245|512810|518244|518245|518249|518254|518255|518257|518258|518259|518260|518266|518279|518287|518289|518290|518356|518361|518362|518364|518366|518375|518377|558107|558109|558111|558113|558115|558474|558476|558478|558480|560643|560645|560647|560649|560651|561549|614244|614245|614246|630034|630035|630036|630037|630038|630039|630040|630041|630042|630043|630044|630045|630046|630047|630048|630049|630050|630051|630052|630053|630054|630055|630056|630057|630058|630059|630060|630061|630062|630063|630064|630065|630066|630067|630068|630069|630070|651055|708298|708299|708300|708301|708302|719889|719890|719892|719893|719894|730143|733498|733500|733502|747662|747665|747666|763257|763258|763265|774739|778919|787140|816353|819174|826513|826514|826515|826516|826517|826518|826519|826520|826521|826522|826523|826524|826525|826526|826527|826528|826529|826530|826531|826532|826533|826534|826535|826536|826537|826538|826539|826540|826541|826542|826543|826544|826545|826546|850863|851180|851430|920180|922783|922784|922785|922786|922787|922788|922789|922790|922791|922792|931418|931419|931420|931421|931422|931423|931424|931425|939895|939896|939897|939898|940710|940711|942942|942943|942944|942945|942946|942947|942948|942949|942950|942951|953097|953098|953099|953100|953101|953102|953103|953104|959643|959644|960478|980447", + "text": "Multiple gastrointestinal atresias" + }, + { + "baseId": "59644|59645|59645|137085|170191|170192|170192|253145|369966|371867|371870|425795|428841|428842|428843|457700|457868|457873|457874|457875|458471|458474|458515|458516|458519|458922|458936|458937|458942|523581|524184|524186|524188|524189|524197|562424|562953|562957|637220|637221|637222|651819|651820|651858|692499|692501|692503|723109|736684|736685|744495|783113|805578|834771|834772|834773|834774|834775|834776|834777|834778|834779|834780|925205|925206|925207|925208|934317|940908|946076|955416|955417|955418|955419|955420|955421", + "text": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12" + }, + { + "baseId": "59645|137085|170192|253145|369966|371867|371870|425795|428841|428842|428843|457700|457868|457873|457874|457875|458471|458474|458515|458516|458519|458922|458936|458937|458942|523581|524184|524186|524188|524189|524197|562424|562953|562957|637220|637221|637222|651819|651820|651858|692499|692501|692503|723109|736684|736685|744495|783113|802164|802165|805578|834771|834772|834773|834774|834775|834776|834777|834778|834779|834780|925205|925206|925207|925208|934317|940908|946076|955416|955417|955418|955419|955420|955421", + "text": "Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12" + }, + { + "baseId": "59797|59798|59799|139355|139357", + "text": "Hemolytic uremic syndrome, atypical, susceptibility to, 7" + }, + { + "baseId": "59800|59801|59802|59803|59804|59805|59806|168075|168079|168080|207026|428099|485890|801983", + "text": "Microcephaly-capillary malformation syndrome" + }, + { + "baseId": "59809|59810|59811|59812|59813|59814|59815|143125|143126|178806|178807|181177|181178|188295|208787|243704|243706|243711|243712|259327|259328|259329|259330|259331|259332|259333|259334|259335|259336|259337|259338|259339|259340|259341|259342|259343|259344|259345|259346|259347|259348|259349|259350|259351|259352|259353|259354|259355|259356|259357|259358|259359|259360|259361|259362|259363|259364|259365|259366|259367|259368|259369|259370|259371|259372|259373|259374|259375|259376|259377|259378|259379|379847|403956|403972|403980|403982|404370|404373|404380|404388|404402|404405|404409|404412|410990|410996|442348|442350|446402|470204|470215|470225|470229|470230|470252|470254|470889|471094|471110|471111|471535|471538|471545|471929|471932|471941|471948|471950|486776|512517|534226|534238|534248|534256|534284|534290|534302|534308|534384|534390|534394|534397|534563|534736|534739|534743|534745|534746|534752|534754|534766|534767|538498|551798|571938|571940|571941|571943|571945|571953|571963|571965|571967|571971|571973|571975|573228|573382|573384|573389|573392|574103|574107|574112|574120|574121|575261|575264|575265|575266|575267|580786|581846|589846|614608|649410|649412|649415|649416|649418|649419|649425|649427|649429|649430|649433|649435|649436|649437|649441|649443|649447|649450|649451|653209|653215|653257|653286|653326|653899|792054|792055|798087|802063|802064|905031|919948|919949|920427|963187|963347|966017|966018|971159|971598", + "text": "Epilepsy, familial focal, with variable foci 1" + }, + { + "baseId": "59809|59810|143125|178807|188295|208787|243705|243706|243707|243708|243709|243710|243712|243713|243714|257601|257602|257603|257605|257607|259330|259332|259338|259339|259345|259346|259352|259354|259357|259363|259365|259366|259367|259369|259372|360528|361622|378785|403947|403952|403953|403957|403958|403960|403962|403965|403968|403969|403970|403978|403981|403982|403983|403984|404004|404369|404374|404375|404376|404383|404385|404386|404390|404392|404395|404396|404400|404405|404407|404417|404421|404422|410986|410991|410996|411006|426705|438223|438224|442349|469863|470214|470217|470229|470238|470246|470259|470261|470887|471089|471090|471095|471098|471101|471103|471105|471109|471112|471526|471528|471531|471539|471543|471545|471547|471930|471933|471934|471935|471936|471943|471944|471945|471949|486303|507685|534014|534036|534231|534234|534239|534247|534251|534256|534267|534272|534276|534278|534281|534285|534294|534311|534361|534363|534366|534382|534388|534390|534748|534770|537407|571949|571954|571969|573377|573383|573385|573388|573397|574105|574113|574115|574118|575260|575262|575263|580494|580497|580623|580639|580655|580657|580659|580766|580780|580785|649408|649409|649411|649412|649413|649414|649417|649420|649421|649422|649423|649424|649426|649428|649431|649432|649434|649438|649439|649440|649442|649444|649445|649446|649448|649449|649452|649453|653261|653335|684918|684920|684921|685472|689277|689278|689279|689280|689281|689282|689283|689284|689286|705895|705897|729148|742861|758048|773522|821450|821451|821452|821453|821454|821455|821456|821457|821458|849252|849253|849254|849255|849256|849257|849258|849259|849260|849261|849262|849263|849264|849265|849266|849267|849268|849269|849270|849271|849272|849273|849274|849275|849276|849277|849278|849279|849280|849281|849282|849283|849284|849285|849286|849287|849288|849289|849290|849291|849292|849293|849294|849295|849296|849297|851922|851924|852436|852439|852931|852932|852934|929471|929472|929473|929474|929475|929476|929477|929478|929479|929480|929481|939276|939277|939278|939279|939280|939281|939282|939283|939284|939285|939286|939287|939288|939289|939290|939291|939292|939293|939294|939295|939296|939297|939298|939299|940531|940532|940533|941280|951436|951437|951438|951439|951440|951441|951442|951443|951444|951445|951446|951447|951448|951449|951450|951451|951452|951453|951454|951455|951456|951457|959074|959075|959076|959077|959078|959079|959080|959081|959082|959083|959084|960347", + "text": "Familial focal epilepsy with variable foci" + }, + { + "baseId": "59816", + "text": "Vel blood group system" + }, + { + "baseId": "59839|59839", + "text": "Sturge-Weber syndrome" + }, + { + "baseId": "59839|59839", + "text": "Capillary malformation" + }, + { + "baseId": "59840|59841|59842|59843|791287", + "text": "Hypogonadotropic hypogonadism 19 with or without anosmia" + }, + { + "baseId": "59844|59846", + "text": "Hypogonadotropic hypogonadism 20 with or without anosmia" + }, + { + "baseId": "59845", + "text": "Hypogonadotropic hypogonadism 20 without anosmia" + }, + { + "baseId": "59847", + "text": "Hypogonadotropic hypogonadism 8 with or without anosmia" + }, + { + "baseId": "59848|59849|59850", + "text": "HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO" + }, + { + "baseId": "59851", + "text": "Hypogonadotropic hypogonadism 21 with or without anosmia" + }, + { + "baseId": "59853|59856|59857", + "text": "Hypogonadotropic hypogonadism 18 with anosmia" + }, + { + "baseId": "59854|59855", + "text": "HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA, SUSCEPTIBILITY TO" + }, + { + "baseId": "59858|59859|59860|59861", + "text": "Hypogonadotropic hypogonadism 17 with or without anosmia" + }, + { + "baseId": "65568|65569|65570|226691|226692|226693|918779", + "text": "GAPO syndrome" + }, + { + "baseId": "65571|65572|65573", + "text": "Spermatogenic failure 3" + }, + { + "baseId": "65574|65575|65576|196432|196433|196434|578460|788818|790738|801572", + "text": "Gordon Holmes syndrome" + }, + { + "baseId": "65578|65579|65580|538482|622449|798739|919811|919812|964885", + "text": "Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant" + }, + { + "baseId": "65609|425223|512063|513332|538433|539049|788875|788876|789127|791297|800327|800328|800330|919494|920322|964857|981830", + "text": "Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4" + }, + { + "baseId": "65610|65611|65612|199811|199812|205325|225889|247192|264790|360623|362396|362436|384424|430597|513149|537412|613834|613932|613967|614041|614076|789134|792084|798978|816531|861660|861661|919961|919962|961657|961695|963940|963941|964556|964557|964558|964994|964995|964996|964997|964998|964999|965000|965001|965002|965003|965004|965005|965006|965007|965008|965009|967017|976673|976674|983557|983802", + "text": "22q13.3 deletion syndrome" + }, + { + "baseId": "65618|65619|65620|65621|105833|105834|105835|105836|105837|105838|105839|105840|105841|105842|105843|105844|105845|105846|105847|105848|105849|105850|105851|105852|105853|105854|105855|105856|105857|105858|105859|105860|105861|105862|105863|105864|105865|105866|105867|105868|105869|105870|105871|105872|105873|105874|105875|105876|105877|105878|105879", + "text": "Glaucoma 1, open angle, F" + }, + { + "baseId": "65631|65632|131954|131955|131956|215281|223308|223309|223310|223311|223312|223313|223314|223315|223316|359521|367310|367313|404763|452009|452011|452014|452017|452020|452025|452235|452236|452241|452243|452247|452250|452271|452272|452277|452282|452284|452285|452288|452300|452302|452365|452367|452368|452370|452506|452510|452513|452514|481686|500683|519054|519057|519059|519062|519067|519069|519205|519206|519223|519225|519227|519229|519231|519235|539127|558868|558870|558872|558874|559417|559419|559421|561331|561340|561346|562643|562648|562650|562652|562654|631121|631122|631123|631124|631125|631126|631127|631128|631129|631130|631131|631132|631133|631134|631135|650984|651050|653858|691365|691366|698016|698017|720386|720387|720388|734005|743932|748183|763805|792735|798528|798529|805338|815810|815811|819364|827833|827834|827835|827836|827837|827838|827839|827840|827841|827842|827843|827844|827845|827846|827847|827848|827849|827850|827851|827852|827853|827854|827855|851037|851039|923115|923116|923117|923118|923119|923120|923121|923122|923123|923124|923125|923126|923127|923128|931875|931876|931877|931878|931879|931880|931881|940746|943456|943457|943458|943459|943460|943461|953417|953418|953419|953420|953421|953422|953423|960510|970764|976892|976893|976894", + "text": "Congenital disorder of deglycosylation" + }, + { + "baseId": "65651|65652|65653|65654|380135|380136|380137|422499|426484|481509|513399|538517|576197|589822|677298|822347|920050|920051|920052|920053|965295|965890|971224|974537", + "text": "Intellectual disability-developmental delay-contractures syndrome" + }, + { + "baseId": "65655|65656|97543|139376|208626|243558|263149|334439|334441|334442|334445|334448|334451|344317|344322|344323|344324|344325|344326|349423|349426|349429|349430|349432|349433|349435|349436|349440|350426|378154|677462|679893|684854|882570|882571|882572|882573|882574|882575|882576|882577|882578|882579|882580|882581|882941", + "text": "Autosomal dominant torsion dystonia 4" + }, + { + "baseId": "65655|65656|65656|139376|139376|139377|143144|143145|190170|205792|208626|213656|243558|260216|263148|263149|263149|263150|263151|263152|263153|263154|263155|263156|263157|263158|263159|263160|263161|263162|263163|263164|263165|263166|263167|263168|263169|263170|334439|334441|334442|334445|334448|334451|344317|344322|344323|344324|344325|344326|349423|349426|349429|349430|349432|349433|349435|349436|349440|350426|353527|378154|410718|446894|507188|533469|533480|573423|575063|613156|648514|648515|648516|677462|684854|689160|694516|786298|791961|798758|798759|848096|848097|882570|882571|882572|882573|882574|882575|882576|882577|882578|882579|882580|882581|882941|919899|919900|919901|938867", + "text": "Leukodystrophy, hypomyelinating, 6" + }, + { + "baseId": "65657|65658|65659|65660|65661|65662|152908|481226|481227|513247|970708", + "text": "Hypomyelination with brainstem and spinal cord involvement and leg spasticity" + }, + { + "baseId": "65666|165821|395001|406786|626307|965964", + "text": "Polymicrogyria, bilateral temporooccipital" + }, + { + "baseId": "65676|65677|171812|237111|361361|361557|361558|433901|433903|433905|513386|513674|610177|613200|613202|626287|706009|706012|717547|717548|717555|729300|729304|729306|729309|743016|743022|743028|758172|780073|798774|800193|800194|800195|800196|800197|800198|800199|800200|982258|982259|982260|982261|982262|982263|982264|982265|982266|982267", + "text": "Charcot-Marie-Tooth disease, type 4B3" + }, + { + "baseId": "65837", + "text": "Carcinoma of male breast" + }, + { + "baseId": "67271|213656|243827|801185|805069|971289", + "text": "Cerebral palsy" + }, + { + "baseId": "67593|550737", + "text": "Neuroendocrine tumor of pancreas" + }, + { + "baseId": "70063", + "text": "Breast and colorectal cancer" + }, + { + "baseId": "70461|70462|70463|70464|70467|409773|539068|540049|818151|919681|966800|966801|971057|971376|975894|977278", + "text": "Xerocytosis" + }, + { + "baseId": "70472|70473|70474|363796|438567|438613|453120|514231|514232|514233|514234|559136|631779|698279|709026|709027|709029|709030|734283|734284|748507|828548|923344|923345", + "text": "Adams-Oliver syndrome 4" + }, + { + "baseId": "70473|181457|200762|200763|200764|200765|200766|200767|200768|200769|200770|288886|288933|291887|291946|292011|497310", + "text": "Adams-Oliver syndrome" + }, + { + "baseId": "70475|224853|224854|224855|224856|224857|224858|224859|433790|433795|445659|539068|590357|590358|626249|626250|818145|904913|962247|962248|966800|966801|975894", + "text": "Lymphedema, hereditary, III" + }, + { + "baseId": "70481|133578|259981|415549|857631", + "text": "Pre-B-cell acute lymphoblastic leukemia" + }, + { + "baseId": "70485|70486|70487", + "text": "Xeroderma pigmentosum, type F/Cockayne syndrome" + }, + { + "baseId": "70488|962821", + "text": "Medullary cystic kidney disease 1" + }, + { + "baseId": "70489|70540|136848", + "text": "King Denborough syndrome" + }, + { + "baseId": "70496|75585|622244|788884|792794", + "text": "Autosomal recessive congenital ichthyosis 9" + }, + { + "baseId": "70497|70498|450990|518021", + "text": "Ciliary dyskinesia, primary, 21" + }, + { + "baseId": "70500", + "text": "Mitral atresia disorder" + }, + { + "baseId": "70500", + "text": "Aortic valve atresia (disease)" + }, + { + "baseId": "70500", + "text": "Single Ventricle Defect" + }, + { + "baseId": "70500", + "text": "Pulmonary atresia with ventricular septal defect" + }, + { + "baseId": "70500|303321|362061|677996|789091", + "text": "Atrioventricular septal defect" + }, + { + "baseId": "70502|70503|70504|215769|361944|362521|520924|559833|560334|562990|562995|562996|691784", + "text": "Infantile myofibromatosis 1" + }, + { + "baseId": "70502|70502|215769|251822|270125|270626|362365|362366|362367|362520|362521|363941|454742|454749|454815|454817|455307|455595|455600|455602|455604|520926|520927|521357|560213|633635|633636|633637|691784|691785|691786|691787|691788|691789|691790|695283|698920|698921|698922|698924|698927|698928|698929|698930|698932|698933|698934|698935|698937|698938|698939|709731|709732|721300|721301|721302|721305|734934|749343|749349|830537|830538|923948|923949|944491|944492|944493|954093|961572|961573|961574|961575|961576|961577", + "text": "Infantile myofibromatosis" + }, + { + "baseId": "70502|213767|251822|270125|270626|363941|454742|454749|454815|454817|455307|455595|455600|455602|455604|520924|520926|520927|521357|559833|560213|560334|562990|562995|562996|633635|633636|633637|691784|691785|691786|691787|691788|691789|691790|695283|698920|698921|698922|698924|698927|698928|698929|698930|698932|698933|698934|698935|698937|698938|698939|709731|709732|721300|721301|721302|721305|734934|749343|749349|830537|830538|923948|923949|944491|944492|944493|954093", + "text": "Kosaki overgrowth syndrome" + }, + { + "baseId": "70502|213768|251822|270125|270626|363941|454742|454749|454815|454817|455307|455595|455600|455602|455604|520924|520926|520927|521357|559833|560213|560334|562990|562995|562996|633635|633636|633637|691784|691785|691786|691787|691788|691789|691790|695283|698920|698921|698922|698924|698927|698928|698929|698930|698932|698933|698934|698935|698937|698938|698939|709731|709732|721300|721301|721302|721305|734934|749343|749349|830537|830538|923948|923949|944491|944492|944493|954093", + "text": "Premature aging syndrome, Penttinen type" + }, + { + "baseId": "70504|106815|361523|442109|442138|442159|442168|536981", + "text": "Infantile myofibromatosis 2" + }, + { + "baseId": "70510|211189|227133|227134|434403|434404", + "text": "Combined oxidative phosphorylation deficiency 39" + }, + { + "baseId": "70511|70512|70513|70514|70515|70516|165482|165483|207729|236923|370452|370472|370964|370969|370970|370984|370987|371349|373178|407723|407724|407725|411572|425853|425854|433377|433378|433379|438414|441358|444534|444535|444536|459284|459291|459293|459296|459298|459302|459308|459310|459603|459607|459610|459681|459682|459688|459689|459692|459696|459698|459702|460175|460184|460186|460190|460192|460196|460197|460204|460206|502675|502680|502683|524688|524689|524930|524932|524933|525034|525037|525054|525056|525059|525214|525217|525230|525239|525241|552142|563317|563319|563322|563325|563327|564150|564152|564154|564158|564159|564164|564169|565987|565992|565994|569176|569180|569184|569186|577142|578480|578481|625198|626191|638401|638402|638403|638404|638405|638406|638407|638408|638409|638410|638411|638412|638413|638414|638415|638416|638417|638418|638419|638420|638421|638422|638423|638424|638425|638426|638427|638428|687548|687549|692704|692706|692707|692709|692711|695452|701091|712071|712072|723664|723665|737241|751838|767513|767517|790919|798622|836300|836301|836302|836303|836304|836305|836306|836307|836308|836309|836310|836311|836312|836313|836314|836315|836316|836317|836318|836319|836320|836321|836322|836323|836324|836325|836326|836327|851355|851357|904251|925637|925638|925639|925640|925641|925642|925643|925644|925645|925646|934829|934830|934831|934832|940943|946685|946686|946687|946688|955901|955902|955903|955904|955905|955906|970913", + "text": "Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant" + }, + { + "baseId": "70519|70520|70521|491715|536008|802080|857414", + "text": "Perrault syndrome 3" + }, + { + "baseId": "70521", + "text": "Autosomal recessive hearing impairment with normal menstrual cycles" + }, + { + "baseId": "70522|70523|70524|200390|200391|229076|424645|424646|496733|612084|677416|677417|679207|679208|679210|857410|970767|980889|980890", + "text": "Perrault syndrome 4" + }, + { + "baseId": "70522|188976|245209|496733|679206|679208|679209|679211|980894", + "text": "Hydrops, lactic acidosis, and sideroblastic anemia" + }, + { + "baseId": "70529|70530|70531|70532|70533|70534|70535|70536|237498|237499", + "text": "Scalp-ear-nipple syndrome" + }, + { + "baseId": "70537", + "text": "Mitochondrial complex 4 deficiency, nuclear type 11" + }, + { + "baseId": "70549|70550|249386|427633|447090|447182|447269|447275|515049|515063|515115|515116|515120|515164|515174|556592|614181|626790|626791|626792|626793|626794|626795|626796|626797|626798|626799|626800|626801|650584|650585|706668|706669|718187|718188|731691|731693|731694|745658|745659|761174|761176|761177|761179|761180|774368|774388|780313|780316|780317|780318|786976|786995|822682|822683|822684|822685|822686|822687|822688|822689|822690|822691|822692|822693|822694|921625|921626|930023|941437|952057|952058|952059|952060|952061|952062|952063|961922|977430|977431|977432|977433|977434|977435|977436|977437|977438|977439|977440|977441", + "text": "Severe congenital neutropenia 5, autosomal recessive" + }, + { + "baseId": "70553|70554|70555|70556|70557|70558|70559|132726|132727|132728|132729|237372|361215|361216|429708|482074|680054|860172|919583|971022|973037|975868", + "text": "Craniosynostosis 3" + }, + { + "baseId": "70564", + "text": "Bone mineral density quantitative trait locus 17" + }, + { + "baseId": "70565|70565|70566|70567|70568|70569|215790|215791|410626|533147|623355|965237", + "text": "Craniosynostosis 4" + }, + { + "baseId": "70565|262701", + "text": "Chitayat syndrome" + }, + { + "baseId": "70572", + "text": "Borrone di Rocco Crovato syndrome" + }, + { + "baseId": "70633|263633|361146|481389|966710|966711|966718|966719|966725|966727|966729", + "text": "Polyhydramnios" + }, + { + "baseId": "70633|966711", + "text": "Intestinal obstruction" + }, + { + "baseId": "70810", + "text": "Essential tremor" + }, + { + "baseId": "70810|720180", + "text": "Parkinson disease 21" + }, + { + "baseId": "70939|177557|207112|214177|214194|239335|239336|251350|251352|251361|251362|266978|267183|292529|292604|292623|292624|292625|292627|292629|293984|294001|297363|297381|297387|297399|297424|297439|297441|297442|297443|297444|297458|297459|620155|620156|620773|975780", + "text": "CC2D2A-Related Disorders" + }, + { + "baseId": "71217|71221|71232|620003|620723|626109", + "text": "POMGNT1-Related Disorders" + }, + { + "baseId": "71221|429593", + "text": "Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies" + }, + { + "baseId": "71256|620596|620887", + "text": "MKS1-Related Disorders" + }, + { + "baseId": "71377|105746|265487|270185|514649|620459", + "text": "CEP290-Related Disorders" + }, + { + "baseId": "71435|71436|469336|470875|533484|571182|573483|705426|705427|728587|728588|938932", + "text": "Dowling-Degos disease 2" + }, + { + "baseId": "71437|71437|71439", + "text": "Kenny-Caffey syndrome type 2" + }, + { + "baseId": "71437|71437|71438|71440|71441|71442|919369|970536", + "text": "Osteocraniostenosis" + }, + { + "baseId": "71452|364869|364882|447509|498222|513506|515479|515489|515595|515609|536141|536142|536143|536144|536145|536146|536147|536148|536149|536150|549875|549876|549877|556796|557165|558351|627402|627403|627404|627405|627406|690507|690508|695027|823498|823499|823500|930337|940621|961246", + "text": "Multiple mitochondrial dysfunctions syndrome 3" + }, + { + "baseId": "71460|409749|466083|466085|466835|466836|466846|467134|467136|467136|467143|486158|530355|530451|530453|530458|530463|530465|530468|530648|530649|530652|530656|530658|530663|530878|535755|535755|568436|568442|570568|570591|570593|613047|645078|645079|645080|645081|645082|652593|726854|726855|726856|740403|740404|740405|740406|755443|755444|776207|844429|844430|844431|844432|844433|844434|844435|844436|844437|852673|927986|927987|927988|927989|937649|937650|937651|940374|949617|949618|949619|949620|957905", + "text": "Immunodeficiency 32b" + }, + { + "baseId": "71461|409749|466083|466085|466835|466836|466846|467134|467136|467143|486158|530355|530451|530453|530458|530463|530465|530468|530648|530649|530652|530656|530658|530663|530878|535755|568436|568442|570568|570591|570593|613047|645078|645079|645080|645081|645082|652593|726854|726855|726856|740403|740404|740405|740406|755443|755444|776207|844429|844430|844431|844432|844433|844434|844435|844436|844437|852673|927986|927987|927988|927989|937649|937650|937651|940374|949617|949618|949619|949620|957905", + "text": "Immunodeficiency 32a" + }, + { + "baseId": "71463|71464|71465|96871|203228|203230|203241|203242|203250|614419", + "text": "Early infantile epileptic encephalopathy 16" + }, + { + "baseId": "71504|71505", + "text": "Fetal hemoglobin quantitative trait locus 6" + }, + { + "baseId": "71507|71508|71509|71510|431967|613480", + "text": "Precocious puberty, central, 2" + }, + { + "baseId": "71562|71563|134058|134059|205252|433389|455981|513274|522709|561181|635450|683843|683845|683846|686951|686952|686953|686954|722262|765995|782734|924580", + "text": "Primary pulmonary hypertension 3" + }, + { + "baseId": "75074|75075|75076|75077|75078|414373|450686|450694|450696|450786|450788|450789|450959|518067|518148|538347|557992|558342|560559|560561|560563|560565|583085|629782|629783|629784|629785|651013|691118|691119|781290|799296|799297|826135|826136|922684|922685|922686|922687|931271|942756", + "text": "Primary pulmonary hypertension 4" + }, + { + "baseId": "75079|75080|75081|75082|75083|75084|414727|421163|442611|513007|515106|556915|556917|650523|974508", + "text": "Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures" + }, + { + "baseId": "75085|75086|75087|75088|75089|190642|267606|359211|364354|364355|414726|421163|421163|442610|442611|513007|515106|556627|556915|556917|613455|626776|650523|655030|780306|818831|822665|822665|941428|941429|975853|983771|983772", + "text": "Ehlers-Danlos syndrome, progeroid type, 2" + }, + { + "baseId": "75090|75091|75092|513007", + "text": "Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures" + }, + { + "baseId": "75093|75096|125844|178911|181505|181508|181510|181511|181513|181514|181515|188134|194951|225852|228269|259632|263951|263954|354275|390822|446917|447226|498091|498105|551682|552492|556612|556953|626898|626899|626900|689631|761244|822785|822786|822787|850933|930058|964130", + "text": "Noonan syndrome 8" + }, + { + "baseId": "75097|75098|251410|251411|251413|251414|251420|251422|251423|251425|263497|263498|362142|369076|428293|440839|440840|440842|440843|440845|440846|440847|443602|453071|453075|453079|453080|453082|453084|453089|453093|453102|453107|453109|453355|453357|453359|453363|453365|453458|453464|453467|453471|453473|453475|453477|453481|453848|453851|453857|453860|453863|453864|513545|519830|519832|519834|519841|519843|519845|519849|519856|519860|519862|519870|520081|520082|520086|520087|520097|520099|520150|520151|538981|559639|559641|559643|559645|559798|559800|559802|559804|561977|561978|561982|563610|563614|563623|563634|563636|608949|632097|632098|632099|632100|632101|632102|632103|632104|632105|632106|632107|632108|632109|632110|632111|632112|632113|632114|632115|632116|651168|686514|691538|691539|691540|691541|691543|695225|695226|695228|698450|698451|698452|698453|720861|720863|734543|734544|734545|734547|734550|748838|748842|764403|777486|781911|788771|789365|819466|828970|828971|828972|828973|828974|828975|828976|828977|828978|828979|828980|828981|828982|828983|828984|828985|828986|828987|828988|828989|828990|850976|850978|850980|851116|851118|923470|923471|923472|923473|923474|923475|923476|923477|923478|932252|932253|932254|932255|932256|932257|932258|932259|940777|940778|940779|943908|943909|943910|943911|943912|953726|953727|953728|953729|953730|953731|953732|953733|959719", + "text": "Limb-girdle muscular dystrophy, type 2S" + }, + { + "baseId": "75099|75100|75101|75102|75103|251123|251124|251125|251126|251127|251128|251129|251130|264149|367548|367551|367577|367580|368592|406303|406304|440783|440784|452403|452406|452412|452414|452602|452604|452605|452610|452707|452708|452716|452911|452921|452922|452928|452936|452940|452949|519284|519290|519295|519335|519338|519475|519489|519492|519541|519545|519547|536648|558990|558992|558994|558996|558998|559503|559505|559507|559509|559511|559513|561567|561569|561572|562936|562943|562948|562955|562959|622329|631403|631404|631405|631406|631407|631408|631409|631410|631411|631412|631413|631414|631415|631416|631417|631418|631419|631420|631421|631422|631423|631424|651070|655550|677314|691414|695203|698089|698091|720440|748264|792737|798533|828145|828146|828147|828148|828149|828150|828151|828152|828153|828154|828155|828156|828157|828158|828159|828160|828161|828162|923199|923200|923201|923202|923203|923204|923205|923206|923207|923208|923209|931953|931954|943555|943556|943557|943558|943559|943560|943561|943562|953482|953483|953484", + "text": "Nemaline myopathy 8" + }, + { + "baseId": "75106|75107|75108|75109|75110|241570", + "text": "Hereditary spastic paraplegia 26" + }, + { + "baseId": "75117|75118|75119|75120|626253", + "text": "Multiple system atrophy" + }, + { + "baseId": "75121|75121|75122|75124|75125|75126|75127|75128|227736|251232|251234|251235|272983|367329|367681|367682|367706|443498|452534|452535|452838|452840|452856|452860|453088|453092|519429|519431|519621|519624|519628|519631|519678|519680|559048|559050|559052|559054|559056|559058|559580|559582|559584|561685|561686|563098|563100|563104|626413|631575|631576|631577|631578|631579|631580|631581|631582|631583|631584|631585|631586|651209|655561|691451|720531|730224|744023|774861|777418|781744|828341|828342|828343|828344|828345|828346|828347|828348|828349|828350|828351|851059|923268|923269|923270|923271|932019|932020|932021|932022|943624|943625|953543|953544|960520", + "text": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14" + }, + { + "baseId": "75121|75121|75123|75124|75124|75125|75125|75126|75126|75127|75127|75128|75128|227736|227736|227737|227738|251232|251234|251235|272983|367329|367681|367682|367706|443498|452534|452535|452838|452840|452856|452860|453088|453092|519429|519431|519621|519624|519628|519631|519678|519680|559048|559050|559052|559054|559056|559058|559580|559582|559584|561685|561686|563098|563100|563104|626413|626413|631575|631576|631577|631578|631579|631580|631581|631582|631583|631584|631585|631586|651209|655561|691451|720531|730224|744023|774861|777418|781744|828341|828342|828343|828344|828345|828346|828347|828348|828349|828350|828351|851059|918843|923268|923269|923270|923271|932019|932020|932021|932022|943624|943625|953543|953544|960520", + "text": "Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14" + }, + { + "baseId": "75121|75124|75124|75125|75125|75126|75126|75127|75128|227736|251232|251234|251235|272983|367329|367681|367682|367706|443498|452534|452535|452838|452840|452856|452860|453088|453092|519429|519431|519621|519624|519628|519631|519678|519680|559048|559050|559052|559054|559056|559058|559580|559582|559584|561685|561686|563098|563100|563104|626413|631575|631576|631577|631578|631579|631580|631581|631582|631583|631584|631585|631586|651209|655561|691451|720531|730224|744023|774861|777418|781744|828341|828342|828343|828344|828345|828346|828347|828348|828349|828350|828351|851059|923268|923269|923270|923271|932019|932020|932021|932022|943624|943625|953543|953544|960520", + "text": "Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14" + }, + { + "baseId": "75130", + "text": "Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects" + }, + { + "baseId": "75133|75134|429677|434110|434111", + "text": "Albinism, oculocutaneous, type VI" + }, + { + "baseId": "75236|75237|683217", + "text": "Hypocalciuric hypercalcemia, familial, type II" + }, + { + "baseId": "75238|75239|75240|75241|165722", + "text": "Hypocalcemia, autosomal dominant 2" + }, + { + "baseId": "75250|75251|75252|75253|75254|205406|254263|254264|254266|254267|254269|254270|254271|260003|363854|413317|429281|566100|579733|579750|579984|640365|701925|738190|798644|935712", + "text": "Ceroid lipofuscinosis, neuronal, 13" + }, + { + "baseId": "75256|378125|413818|470653|470654|471439|471440|472115|534396|534535|534697|534782|534787|535125|572390|573445|574449|574450|575382|649932|649933|649934|649935|689454|690268|798262|920447|929673|929674|939541|939542|939543|951721|951722", + "text": "Charcot-Marie-Tooth disease, X-linked dominant, 6" + }, + { + "baseId": "75262|342541|553398", + "text": "Lethal congenital contracture syndrome 5" + }, + { + "baseId": "75270", + "text": "Generalized epilepsy with febrile seizures plus 3" + }, + { + "baseId": "75270|201880|201889|201889|918941|964661", + "text": "Developmental and epileptic encephalopathy, 74" + }, + { + "baseId": "75272|75273|75274|75275|75276|75277|97526|97527|97528|205288|208237|208238|215118|215119|215122|215123|225869|225877|242175|242176|242177|242178|242179|242180|242181|242182|247110|255441|255444|255448|255449|264750|360144|360145|361633|373822|373831|373836|373838|373846|373848|373849|373867|373870|373880|373894|374539|374547|374560|374563|374576|374577|374897|374899|374907|374908|374911|374920|374930|374935|374939|374940|374947|374963|376853|376858|376859|376883|376895|376897|376901|376919|376922|376935|376951|376953|376954|376965|376966|376967|400481|400484|400629|400639|400642|401039|401047|401309|401311|409398|409412|409415|409416|409419|409423|409425|409429|409431|409434|413410|413411|413413|422064|422065|426142|445475|463954|464755|464759|464763|464771|464779|464785|464798|465358|465375|465382|465502|465506|465507|465511|465512|465517|465518|465618|465619|465623|465627|465629|465633|465634|465636|465640|465644|482084|505322|505371|505536|505540|505564|505567|505934|505996|506016|506024|506025|512163|512164|512165|512167|514683|529208|529211|529224|529229|529237|529238|529243|529537|529540|529541|529817|529821|529822|529828|538447|552185|552186|552187|567444|567450|567452|567456|569356|569357|569360|569363|569367|569371|569743|569745|569762|573127|573641|573642|573643|577415|578523|580044|580060|580257|611420|614406|614407|625815|643731|643732|643733|643734|643735|643736|643737|643738|643739|643740|643741|643742|643743|643744|643745|643746|643747|643748|643749|643750|643751|643752|643753|643754|643755|652599|652601|652788|652790|652792|656325|682862|684569|684570|688514|688516|688517|693779|695671|754797|760429|788007|791516|791517|791518|791519|797225|798693|800671|800672|802006|802007|802008|802009|804864|818313|820752|820753|820754|820755|820756|822101|822102|822103|822104|822105|822106|822107|822108|822109|822110|822111|822112|842909|842910|842911|842912|842913|842914|842915|842916|842917|842918|842919|842920|842921|842922|842923|842924|842925|842926|842927|842928|842929|842930|842931|842932|842933|842934|842935|842936|842937|842938|842939|842940|842941|842942|852083|919603|919604|920349|920350|927498|927499|927500|927501|927502|927503|927504|927505|927506|927507|927508|927509|927510|927511|927512|927513|937144|937145|937146|937147|937148|937149|937150|937151|937152|937153|937154|937155|937156|937157|937158|937159|937160|940336|941104|949108|949109|949110|949111|949112|949113|949114|949115|949116|949117|949118|949119|957570|957571|957572|957573|960127|961621|962865|962870|964432|964433|964434|964435|964436|964682|970506|971032|971033|971034|971035|971036|972830", + "text": "Epileptic encephalopathy, childhood-onset" + }, + { + "baseId": "75284|75285|75286|75287|75288|215209|221095|221096|228413|228414|228415|228416|228418|228420|228422|228426|228427|228428|228429|228430|228431|228432|228433|228434|228435|228436|228437|228438|228439|228444|228445|228446|228447|228448|228450|228451|228452|228453|228454|228455|228457|228459|228461|228462|228465|228466|228467|236958|238267|238269|238270|238271|238272|238273|238274|238275|238276|238278|238279|359261|359349|359356|365033|365036|365129|365226|365233|365235|365238|391167|391170|391176|391182|391187|391189|391192|391195|391196|391197|391199|391207|391209|391230|391232|391233|391237|391240|391323|391327|391328|391330|391333|391334|391340|391341|405162|405163|414795|414796|421241|425363|425366|442829|442831|446930|447765|447766|447768|447770|447823|447830|447834|447838|447839|447846|447851|447857|447863|447867|447997|447999|448002|448008|448009|448011|448012|448016|448019|448074|448076|448093|448096|448102|448124|448125|448135|448137|448142|448146|448154|448156|448159|448160|448162|480675|480677|496162|498401|498402|498414|498417|498435|498442|498453|498471|498478|498624|498631|498653|515772|515825|515827|515830|515834|515836|515838|515854|515861|515863|515864|515865|515866|515867|515868|515873|515875|515876|515921|515922|515933|515948|515950|515952|515958|536589|556875|557035|557037|557039|557041|557043|557256|557258|557260|557289|557291|557303|557305|557307|557309|558473|558487|558489|558491|558493|627744|627745|627746|627747|627748|627754|627782|627783|627784|627785|627786|627787|627788|627789|627790|627791|627792|627793|627794|627795|627796|627797|627798|627799|627800|627801|627802|627803|627804|627805|627806|627807|650599|650647|683321|683324|683325|683326|685711|685712|685718|685719|685720|685725|685726|685727|685729|690588|690589|690590|695048|746437|758999|761881|761889|777106|780674|818823|818960|818961|818962|818965|823879|823880|823899|823900|823901|823902|823903|823904|823905|823906|823907|823908|823909|823910|823911|823912|823913|823914|823915|823916|823917|823918|823919|823920|823921|823922|823923|823924|823925|850771|851299|918632|918633|921988|921999|922000|922001|922002|922003|922004|930463|930473|930474|930475|930476|930477|930478|930479|930480|940631|941912|941913|941914|941918|941919|941920|941921|941922|941923|941924|941925|941926|952387|952388|952393|952394|952395|952396|952397|952398|952399", + "text": "Left ventricular noncompaction 8" + }, + { + "baseId": "75287|75288|75289", + "text": "Dilated cardiomyopathy 1LL" + }, + { + "baseId": "75292|75293|226957|230649|344048|431553|682863|682863", + "text": "Deafness, autosomal recessive 89" + }, + { + "baseId": "75294|75295|227691|227692|612143", + "text": "Cone-rod dystrophy 18" + }, + { + "baseId": "75299|75300|75301|75301|75302|75303|131985|131986|131987|165812|165813|168532|168533|168534|168535|205745|359705|359705|363137|428463|433821|455054|455232|455235|455691|455694|455697|455946|521519|521583|521589|521590|521845|538987|560361|560363|560365|563199|565168|576118|612709|614289|633995|633996|633997|633998|651333|721506|735163|749563|749564|759604|765179|765180|765182|765185|779323|782328|815949|830918|830919|830920|830921|830922|830923|830924|830925|830926|830927|830928|830929|830930|830931|830932|830933|830934|852216|917444|924094|924095|924096|932938|932939|932940|940007|944643|954185|954186|954187|959770|964660", + "text": "SHORT syndrome" + }, + { + "baseId": "75301|75301|165812|165812|165813|165813|168532|168534|168535|359705|359705|363137|428463|433821|440012|440013|440014|440015|455054|455232|455235|455691|455694|455697|455946|521519|521583|521589|521590|521845|560361|560363|560365|563199|565168|576118|612709|614289|633995|633996|633997|633998|651333|721506|735163|749563|749564|759604|765179|765180|765182|765185|779323|782328|815949|830918|830919|830920|830921|830922|830923|830924|830925|830926|830927|830928|830929|830930|830931|830932|830933|830934|852216|918977|924094|924095|924096|932938|932939|932940|940007|944643|954185|954186|954187|959770|970813", + "text": "Immunodeficiency 36" + }, + { + "baseId": "75311|75312|75315|189324|189325|227341|241059|241060|398046|398052|398075|398414|398510|408276|461231|461723|503158|503729|504078|525941|570312|639738|687711|838022|926135|935404|947335|956398", + "text": "Atrial fibrillation, familial, 14" + }, + { + "baseId": "75314|222828|222834|227197|243390|243394|243398|243403|243424|243440|243446|243490|243520|245146|403363|403468|403503|403533|403609|403803|403830|403844|403915|404005|410706|432965|469114|469199|471212|479908|479969|573352|575025|919892|920412|983654", + "text": "Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome" + }, + { + "baseId": "75316|75317|75318|75319|75319|84781|191716|191832|191940|192139|192687|192688|192689|193660|195741|196054|196056|231497|231498|236918|244278|244279|244281|244282|244283|244284|244285|244287|244288|244289|244290|244291|244292|244293|244294|265896|265963|266960|268743|268885|271724|271725|272148|274250|275506|281060|281068|281079|281083|281093|281101|281668|281687|281689|281698|281708|281723|282874|282883|282886|282891|282892|282894|282896|282899|282904|282906|282913|282914|283176|283208|283210|283213|359270|365178|365179|365185|365189|365195|365197|365199|365201|365363|365380|365385|365448|365460|365461|365464|405228|414805|414807|421254|442882|448208|448212|448214|448215|448219|448277|448288|448303|448308|448309|448314|448319|448323|448325|448334|448338|448343|448344|448346|448347|448354|448402|448404|448405|448409|448411|448413|448417|448426|481599|485980|498817|516031|516037|516051|516053|516057|516060|516067|516068|516069|516072|516073|516074|516082|516084|516092|516097|516099|516194|516202|516205|516209|516213|516218|516223|516226|536598|557356|557358|557360|557362|557364|557366|557368|557405|557407|557409|557411|557413|557415|557417|557419|557421|558024|558026|558028|558030|558032|558034|558036|558038|558040|558573|558575|558577|558579|558581|558583|612539|628212|628213|628214|628215|628216|628217|628218|628219|628220|628221|628222|628223|628224|628225|628226|628227|628228|628229|628230|628231|628232|628233|628234|628235|628236|628237|628238|628239|628240|628241|628242|628243|628244|628245|650769|690658|690659|690660|690661|695061|696837|696840|696841|746620|746623|762057|778838|780758|787165|818989|818990|824354|824355|824356|824357|824358|824359|824360|824361|824362|824363|824364|824365|824366|824367|824368|824369|824370|824371|824372|824373|824374|824375|824376|824377|824378|824379|824380|824381|824382|824383|850783|922147|922148|922149|922150|922151|922152|922153|922154|922155|930644|930645|930646|930647|930648|930649|930650|930651|930652|939824|940647|942083|942084|942085|942086|942087|942088|942089|942090|942091|952502|952503|952504|952505|952506", + "text": "Charcot-Marie-Tooth disease, recessive intermediate c" + }, + { + "baseId": "75321|75322|75323|75324|75325|253634|253636|253638|253639|253640|253641|253642|253647|253650|253651|253652|253653|253654|371440|459508|459512|459514|459517|459752|459754|459770|459779|459984|459985|460401|460407|460415|460418|524842|525073|525218|525224|525225|525226|525380|563458|564377|564381|566089|569347|569359|569366|569375|638607|638608|638609|638610|638611|652232|692747|701116|701117|701118|701119|701121|701122|701123|701124|723693|723695|737271|737272|751873|836482|836483|836484|836485|925704|934884|934885|940162|946753|946754|946755|946756|955948|955949|983823|983824", + "text": "Nephronophthisis 16" + }, + { + "baseId": "75332|75334|192432|314761|314779|314781|314801|314805|321476|321487|321489|321501|327622|327637|327642|327651|328668|328736|328739|429283|493811|576143|576144|611367|868688|868689|868690|868691", + "text": "Spinocerebellar ataxia, autosomal recessive 14" + }, + { + "baseId": "75335", + "text": "T-cell receptor alpha/beta deficiency" + }, + { + "baseId": "75582|405018|405020|439204|447445|447446|447447|447453|447460|447462|447467|447468|447470|447563|447567|447570|447573|447574|447576|447584|447686|447689|447691|447694|447695|447696|447698|447701|447703|447704|447705|447709|447733|447735|447737|447739|447741|447744|447748|447758|447759|513239|515407|515494|515496|515501|515503|515505|515508|515509|515510|515511|515520|515559|515560|556760|556762|556764|556766|556799|556801|556803|556805|556844|557118|557126|557127|557129|557131|558329|558331|558333|627293|627294|627295|627296|627297|627298|627299|627300|627301|627302|627303|627304|627305|627306|627307|627308|627309|627310|627311|627312|650610|650675|690469|696411|696412|696413|696414|707018|707019|707020|729955|732035|732036|732038|732042|746014|746016|746017|758887|761484|761485|789914|794548|823251|823252|823253|823254|823255|823256|823257|823258|823259|823260|823261|823262|823263|823264|823265|823266|823267|823268|823269|823270|823271|850957|921810|921811|921812|921813|921814|930248|930249|930250|930251|939790|939791|941664|941665|941666|941667|941668|952218|952219|952220", + "text": "Epilepsy, familial adult myoclonic, 5" + }, + { + "baseId": "75586", + "text": "Craniometaphyseal dysplasia, autosomal recessive" + }, + { + "baseId": "75588|576098", + "text": "Combined oxidative phosphorylation deficiency 16" + }, + { + "baseId": "75589|75590|790172|861331", + "text": "Amyotrophic lateral sclerosis 19" + }, + { + "baseId": "75600|75601|75602|204484", + "text": "Dyschromatosis universalis hereditaria 3" + }, + { + "baseId": "75603|152912|152913|227449|247178|247179|364044|404842|404842|434678|446250|471394|495875|533546|537659|538491|539098|573531|573549|575107|575108|611353|648717|648718|648719|717002|717003|717004|717005|728680|728681|757548|757549|848429|971143", + "text": "Multiple congenital anomalies-hypotonia-seizures syndrome 3" + }, + { + "baseId": "75604|404842|538491|539414|590510|966062", + "text": "Paroxysmal nocturnal hemoglobinuria 2" + }, + { + "baseId": "75616|512191|512192|512193|512194|512195|552313|552314|552315|622126|622127|816486|861581|964873|970374|970375", + "text": "Beaulieu-Boycott-Innes syndrome" + }, + { + "baseId": "75617", + "text": "Susceptibility to leprosy and multibacillary leprosy" + }, + { + "baseId": "76319|76320|165517|165518|165519|389926|459570|459585|459587|459814|459818|459819|459822|459823|459826|459828|460456|460466|460468|503239|525107|525111|525113|525116|525243|525249|525430|525432|525433|525434|525435|563512|563515|566098|566116|566121|569430|569440|638656|638657|638658|638659|638660|638661|638662|638663|638664|638665|638666|638667|638668|638669|638670|638671|638672|652303|712128|723733|723734|737301|737303|737305|737307|744575|751912|751914|751915|767589|767590|767591|767593|777802|790935|836549|836550|836551|836552|836553|836554|836555|836556|836557|836558|836559|836560|836561|836562|836563|859779|925723|934923|934924|934925|940948|940949|946784|946785|946786|946787|946788|946789|946790|946791|955965|955966|955967|960710|966159|970918|981680", + "text": "Common variable immunodeficiency 10" + }, + { + "baseId": "76321|920031", + "text": "Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia" + }, + { + "baseId": "76324|76325", + "text": "Spermatogenic failure 12" + }, + { + "baseId": "76330|76331|76332|802219|966001", + "text": "Cortical dysplasia, complex, with other brain malformations 4" + }, + { + "baseId": "76333|76334|428443|514284|575489|788782|918976", + "text": "Cortical dysplasia, complex, with other brain malformations 3" + }, + { + "baseId": "76335|150453|626023|626024|626115|920159|965957", + "text": "Cortical dysplasia, complex, with other brain malformations 2" + }, + { + "baseId": "76337|208006", + "text": "Primary autosomal recessive microcephaly 11" + }, + { + "baseId": "76337|181398|181404|181422|181442|181443|181462|181468", + "text": "Primary microcephaly" + }, + { + "baseId": "76339|188878|195791|483111|483112|483113|483114|483115|483116|483117|483118|626252|962792", + "text": "Renal-hepatic-pancreatic dysplasia 2" + }, + { + "baseId": "76340|361068|861044|861045|861046|919939|919940", + "text": "Glaucoma, primary closed-angle" + }, + { + "baseId": "76347|76348", + "text": "Dyskeratosis congenita, autosomal dominant, 4" + }, + { + "baseId": "76352|94266|94267|482036|512042|513325|513326|513615|672265|672266|672267|672268|672269|672270|672271|672272|672273|672274|672275|672304|672305|713805|788872|788873|802182|858748|903596|903672|919475|919476|961309", + "text": "Hypotonia, infantile, with psychomotor retardation and characteristic facies 1" + }, + { + "baseId": "76354", + "text": "Myopia 22, autosomal dominant" + }, + { + "baseId": "76368|624860", + "text": "Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3" + }, + { + "baseId": "76369|76370", + "text": "Amyotrophic lateral sclerosis 20" + }, + { + "baseId": "76371|252783|252784|252785|456681|457114|457125|457301|522884|522885|523021|523261|523264|564276|636094|651725|651731|692218|692219|692220|692222|695362|700021|744331|766244|796027|819866|852084|955136", + "text": "Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2" + }, + { + "baseId": "76372|790778|790779", + "text": "Mitochondrial complex 1 deficiency, nuclear type 24" + }, + { + "baseId": "76376|76377|188059", + "text": "Myopia 23, autosomal recessive" + }, + { + "baseId": "76379|227356|791391|791392", + "text": "Winchester syndrome" + }, + { + "baseId": "76380", + "text": "Deafness, autosomal recessive 88" + }, + { + "baseId": "76385|76386|550225", + "text": "Retinitis pigmentosa 82 with or without situs inversus" + }, + { + "baseId": "76387|141780|425624|552085", + "text": "Infantile liver failure syndrome 1" + }, + { + "baseId": "76388|88878|206601|206602|221980|224392|240817|240818|240819|240820|258642|258643|258644|258652|370756|371303|373392|373398|397316|397496|397497|397499|397726|397728|397857|397858|433866|433867|437854|444610|444613|459922|459927|459930|459931|460035|460090|460093|460356|460359|460361|460784|460786|486035|503354|503627|510171|510172|510174|510180|510181|510190|525358|525364|525370|525478|525482|525488|525665|525666|525667|563798|563800|564615|564619|566111|566346|566347|569680|638968|638969|638970|638971|651968|652108|687652|687655|687656|692867|695481|752129|767785|783616|820207|820208|836941|836942|836943|836944|836945|836946|925830|925831|925832|925833|946935|956079|960720|981697", + "text": "Aortic aneurysm, familial thoracic 8" + }, + { + "baseId": "76389|76390|76391|76392|76393", + "text": "Palmoplantar keratoderma, Bothnian type" + }, + { + "baseId": "76427|226957|354303|354304|514150|553143", + "text": "Optic neuropathy" + }, + { + "baseId": "76427|267852|360814|360901|361027", + "text": "Abnormal electroretinogram" + }, + { + "baseId": "76427|105349|360918|360926", + "text": "Visual loss" + }, + { + "baseId": "76527|620046|620737|622318", + "text": "WDR35-Related Disorders" + }, + { + "baseId": "76527|76649|132656|188988|192063|192782|250474|250911|250915|250917|260901|283786|283829|284409|284412|284415|284460|284474|286856|288710|289412|289426|292461|292469|294773|294797|298349|298359|298422|298440|321444|339360|513805|513809|549471", + "text": "Cranioectodermal dysplasia" + }, + { + "baseId": "76542|187118|190368|190422|190423|190790|237346|255459|255461|255462|255464|255465|255466|255467|255469|255470|256719|256722|256723|271607|298645|298648|298649|301051|301053|301059|305472|305495|321722|321729|321732|321767|324214|324216|324224|324226|324227|324228|324235|324237|324244|324250|324251|324255|324257|324261|324264|324265|324266|324274|324275|324279|324286|324287|328909|333770|333771|333780|333788|333790|333791|333792|333796|333798|333803|333813|333819|333820|333822|333826|333830|336680|340566|340577|340578|340585|340586|340590|340595|340598|340599|340600|340606|340610|340611|340615|340616|340620|340623|340625|340626|340628|340629|341950|341953|341954|341958|341964|341967|341968|341970|341973|341974|341978|341980|341984|342322|342336|342348|342352|347747|347762|349112|349132|349138|349140|349145|349147|494062|546277|546889|620534|714741|726433|726434|731039|731041|739964|754906|754909|754915|760398|785138|874680|874681|874682|874683|874684|874685|874686|874687|874688|874689|874690|874691|874692|874693|874694|874695|874696|874697|874698|874699|874700|874701|874702|874703|874704|874705|874706|874707|874708|874709|874710|874711|874712|874713|874714|874715|874716|874717|874718|874719|874720|874721|874722|874723|874724|876613|876614|876615|876616|876617|876618|876619|876620|876621|963283", + "text": "Osteopetrosis" + }, + { + "baseId": "76552", + "text": "CARNITINE PALMITOYLTRANSFERASE IA POLYMORPHISM" + }, + { + "baseId": "76552", + "text": "CPT1A ARCTIC VARIANT" + }, + { + "baseId": "76552|76563|99879|99880|191998|200218|200219|200220|200221|271352|358057|361583|372374|372616|461594|504343|564873|609808|609810|640393|640394|640396|693104|693105|693106|695540|701949|713110|738243|738244|738247|768709|768719|768720|775736|838927|838928|919389|956640|956646|979114|979115|979116|979117|979118|979119|979120|979121|979122|979123|979124|979125|979126|979127|979128|979129|979130|979131|979132|979133|979134|979135|979136|979137|979138", + "text": "Carnitine palmitoyltransferase type I deficiency" + }, + { + "baseId": "76573|136331|175587", + "text": "Idiopathic camptocormia" + }, + { + "baseId": "76576|133956|133957|133958|512973|512974|512975|512976|512977|512978|791196|918177|918178|919409|919410", + "text": "Spinocerebellar ataxia type 2" + }, + { + "baseId": "76666", + "text": "PRRT2 insufficiency" + }, + { + "baseId": "76763", + "text": "FGFR3-related disorder" + }, + { + "baseId": "76805|135054|135055|135056|135057|141924|141930|172081|172082|190927|193743|195779|195780|201728|201736|201737|201743|292252|425599|443586|496375|561913|563464|631943|686501|709167|764322|828805|828811|978016|978017", + "text": "Late-infantile neuronal ceroid lipofuscinosis" + }, + { + "baseId": 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39|954640|954641|954642|954643|954644|954645|954646|954647|954648|954649|954650|954651|954652|954653|954654|954655|954656|954657|954658|954659|954660|954661|954662|954663|954664|954665|954666|954667|954668|954669|954670|954671|954672|954673|954674|954675|954676|954677|954678|954679|954680|954681|954682|954683|954684|954685|954686|954687|954688|954689|954690|954691|954692|954693|954694|954695|954696|954697|954698|954699|954700|954701|954702|954703|954704|954705|954706|954707|954708|954709|954710|954711|954712|954713|954714|954715|954716|954717|954718|954719|954720|954721|954722|954723|954724|954725|954726|954727|954728|954729|954730|954731|954732|954733|954734|954735|954736|954737|954738|954739|954740|954741|954742|954743|954744|954745|954746|954747|954748|954749|954750|954751|954752|954753|954754|954755|954756|954757|954758|954759|954760|954761|954762|954763|954764|954765|954766|954767|954768|954769|954770|954771|954772|954773|954774|954775|954776|954777|954778|954779|954780|954781|954782|954783|954784|954785|954786|954787|954788|954789|954790|954791|954792|954793|954794|954795|959809|960589|960590|960591|960592|960593|960594|960595|960596|960597|960598|960599|960600|960601|960602", + "text": "Epidermolysis bullosa simplex, autosomal recessive 2" + }, + { + "baseId": "76922|214518", + "text": "MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO" + }, + { + "baseId": "76925|76926|76927|227290|229390|229393|229399|229400|229406|229407|229412|229414|415020|496429|552091|799435|903669|981516", + "text": "Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness" + }, + { + "baseId": "76929|76930|858728", + "text": "Mitochondrial complex III deficiency, nuclear type 6" + }, + { + "baseId": "76931|76932|76933|76934|76935|76936|393851", + "text": "Ciliary dyskinesia, primary, 22" + }, + { + "baseId": "76939", + "text": "Body mass index quantitative trait locus 18" + }, + { + "baseId": "76945|76946|76947|76948|791643", + "text": "Microcornea, myopic chorioretinal atrophy, and telecanthus" + }, + { + "baseId": "76950|76951|76952|76953|106835|205561|221943|240768|240769|240770|240771|240772|240773|240774|240775|240776|240777|240778|240779|240780|240781|243961|243962|243963|243964|397221|397225|397228|397229|397231|397233|397234|397235|397241|397425|397427|397430|397622|397625|397633|397634|397635|397638|397641|397647|397652|397657|397667|397668|397760|397762|397765|397768|397773|459761|459763|459767|459944|459946|459949|459951|459958|459966|459968|459971|460223|460229|460231|460640|460643|460651|460653|460658|460659|460661|460662|525062|525064|525069|525074|525076|525264|525272|525276|525282|525387|525389|525581|552288|563685|563688|563692|564554|564555|564556|564560|566252|569612|638843|638844|638845|638846|638847|638848|638849|638850|638851|638852|638853|638854|638855|638856|638857|651961|652319|684170|687619|687620|687622|687625|752069|787580|820203|836793|836794|836795|836796|836797|836798|836799|836800|836801|925789|925790|925791|935014|935015|946871|956037|956038|956039|960718|960719", + "text": "Primary ciliary dyskinesia 23" + }, + { + "baseId": "76963|76964|170188", + "text": "Metacarpal 4-5 fusion" + }, + { + "baseId": "76965|76966|190050|190052|206701|224176|238121|238122|257907|257911|359196|362133|364334|364337|364365|364367|390765|390767|390769|390773|390778|440340|446985|447051|447055|447091|447093|447138|481127|497975|497998|509061|509066|514977|514983|514985|515008|515013|515041|556587|556840|556978|576393|576401|614648|614649|614650|614651|626610|626611|626612|677121|683253|685527|685528|792823|815974|822537|822538|929962|929963|929964|941381|941382|941383|952015|964123", + "text": "Spinocerebellar ataxia type 19/22" + }, + { + "baseId": "76974|76975|622332|622333|918850", + "text": "Primary aldosteronism, seizures, and neurologic abnormalities" + }, + { + "baseId": "76979|434673", + "text": "Spinocerebellar ataxia type 26" + }, + { + "baseId": "76980|76981|76982|136395|224975|224976|224977|224978|236851|444275|488207|508757|513166|513170|513216|576331|621027|970880", + "text": "Hartsfield syndrome" + }, + { + "baseId": "76985", + "text": "Hypogonadotropic hypogonadism 10 with or without anosmia" + }, + { + "baseId": "76988|77012|204060|205782|214480|260139|264340|264749|264789|408687|440937|444927|511891|512237|614601|655263|712015|795046|806228|848468|954352|966506|966507|966508|966509|966510|966511|966512|966513|966514|966515|966516|966517|966518|966519|966520|966521|966522|966523|966524|966525|966526|966527|966528|966529|966530|966531|966532|966533|966534|966535|966536|966537|966538|966539|966540|966541", + "text": "Rare genetic intellectual disability" + }, + { + "baseId": "76991|132637|439184|469018|469423|469841|469848|469852|532324|532350|532352|532357|532790|538478|571984|572674|574769|574770|574771|574772|574773|574774|624646|624647|624648|647354|647355|647356|647357|647358|647359|647360|647361|647362|647363|647364|647365|653557|716016|716017|727758|741414|741415|780036|800091|821194|821195|821196|846971|846972|846973|846974|846975|846976|846977|846978|846979|846980|846981|846982|846983|928749|928750|938474|938475|938476|958484|958485|958486|958487", + "text": "Immunodeficiency 12" + }, + { + "baseId": "76992|76993|76994|76995|76996|205749|226780|237457|252543|252544|252545|259849|264218|359607|362147|368798|368803|369102|369106|369341|370629|370634|421607|431025|431026|431027|431028|431029|431030|431031|431032|431033|431034|431035|431036|431037|431038|431039|431040|431041|431042|431043|431044|431045|431046|431047|431048|431049|431050|431051|431052|431053|431054|431055|431056|431057|431058|431059|431060|431061|431062|431063|431064|431065|431066|431067|431068|431069|431070|431071|431072|431073|431074|431075|431076|431077|431078|431079|431080|431081|431082|431083|431084|431085|431086|431087|431088|431089|431090|431091|431092|431093|431094|431095|431096|431097|431098|431099|431100|431101|431102|431103|431104|431105|431106|431107|431108|431109|431110|431111|431112|431113|431114|431115|431116|431117|431118|431119|431120|431121|431122|431123|431124|431125|431126|431127|431128|431129|431130|431131|431132|431133|431134|431135|431136|431137|431138|431139|431140|431141|431142|431143|431144|431145|431146|431147|431148|431149|431150|431151|431152|431153|431154|431155|431156|431157|431158|431159|431160|431161|431162|431163|431164|431165|431166|431167|431168|431169|431170|431171|431172|431173|431174|431175|431176|431177|431178|431179|431180|431181|431182|431183|431184|431185|431186|431187|431188|431189|431190|431191|431192|431193|431194|431195|431196|431197|431198|431199|431200|431201|431202|431203|431204|431205|431206|431207|431208|431209|431210|431211|431212|431213|431214|431215|431216|431217|431218|431219|431220|431221|431222|431223|431224|431225|431226|431227|431228|431229|431230|431231|431232|431233|431234|431235|431236|431237|431238|431239|431240|431241|431242|431243|431244|431245|431246|431247|431248|431249|431250|431251|431252|431253|431254|431255|431256|431257|431258|431259|431260|431261|431262|431263|431264|431265|431266|431267|431268|431269|431270|431271|431273|431274|431275|431276|431277|431278|431279|431280|431281|431282|431283|431284|431285|431286|431287|431288|431289|431290|431291|431292|431293|431294|431295|431296|431297|431298|431299|431300|431301|431302|431303|431304|431305|431306|431307|431308|431309|431310|431311|431312|431313|431314|431315|431316|431317|431318|431319|431320|431321|431322|431323|431324|431325|431326|431327|431328|431329|431330|431331|431332|431333|431334|431335|431336|431337|431338|431339|431340|431341|431342|431343|431344|431345|431346|431347|431348|431349|431350|431351|431352|431353|431354|431355|431356|431357|431358|431359|431360|431361|431362|431363|431364|431365|431366|431367|431368|431369|431370|431371|431372|431373|431374|431375|431376|431377|431378|431379|431380|431381|431382|431383|682346|790668|790669|792761|904216|905862|964831", + "text": "Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)" + }, + { + "baseId": "76997|76998|137712|227699|331230|399906|399958|400191|464570|464635|477067|528380|566698|573026", + "text": "Rhabdomyosarcoma, embryonal, 2" + }, + { + "baseId": "77009|77010|77011|77012|77012|208289|208289|361222|409653|425224|429815|486765|488166|513460|653891|677451|791623|791624|791625|802013|858355|919665|963810|964456", + "text": "Early infantile epileptic encephalopathy 17" + }, + { + "baseId": "77012|205293|205294|208289|260118|409653|417339|417343|513460|536092|578532|677451", + "text": "Neurodevelopmental disorder with involuntary movements" + }, + { + "baseId": "77226|77230", + "text": "Naegeli-Franceschetti-Jadassohn syndrome" + }, + { + "baseId": "77430|324506|350559|350560|351599|351601|447726|515517|515521|627319|732050|743657|746024|761491|761492|823275|921816|921817|930253|941669|952222", + "text": "Inflammatory bowel disease" + }, + { + "baseId": "77689|165538|178581|178686", + "text": "Collapse (finding)" + }, + { + "baseId": "77689", + "text": "History of Sudden Cardiac Death" + }, + { + "baseId": "77770|361929", + "text": "Metabolic disease" + }, + { + "baseId": "77872|77873|77874|77875|77876|153742|469628|539100", + "text": "Primary ciliary dyskinesia 24" + }, + { + "baseId": "77879|77880|174516|174517|212521|221631|239937|252377|303151|307630|307640|307814|307821|456535|896457|896458|896459|896460|896461|896462|896463|900234", + "text": "Ciliary dyskinesia, primary, 12" + }, + { + "baseId": "77881|77882|77883|238290|359267|391227|391261|391263|391277|391357|391397|405179|421247|426650|427825|434567|434684|442854|480627|550253|578383|583081|590037|627914|802122|858545|858546|920150", + "text": "Early infantile epileptic encephalopathy 18" + }, + { + "baseId": "78058|78261|78277|78516|78717|78885", + "text": "Acquired long QT syndrome" + }, + { + "baseId": "78511|78586|78587", + "text": "Long QT syndrome, drug-associated" + }, + { + "baseId": "78605", + "text": "SCN5A-Related Arrhythmias" + }, + { + "baseId": "78735|196833", + "text": "SCN5A-related disorder" + }, + { + "baseId": "78963", + "text": "Macular schisis" + }, + { + "baseId": "78963", + "text": "Peripheral schisis" + }, + { + "baseId": "79064|615309|615444", + "text": "Coagulation factor deficiency syndrome" + }, + { + "baseId": "79214|151696|210313|210342|242691|433256|653401|672282|672294|672295|672296", + "text": "Midaortic syndrome" + }, + { + "baseId": "79323", + "text": "Chronic and progressive ataxia" + }, + { + "baseId": "79323", + "text": "Enlarged cisterna magna" + }, + { + "baseId": "79323", + "text": "Ataxia _ Neurologic (child onset)" + }, + { + "baseId": "79323", + "text": "Non-progressive congenital cerebellar ataxia" + }, + { + "baseId": "79335|79336|79337|361238|411155|481342|614106|792141|964572|976710|976711|976712", + "text": "Chromosome Xq28 deletion syndrome" + }, + { + "baseId": "79338|79339|79340|79341|792797|857598", + "text": "Primary ciliary dyskinesia 25" + }, + { + "baseId": "79342|79343|79345|208445|215555|225864|237537|264817|264905|265045|362232|404836|410363|415600|415601|422219|430056|434666|434667|445961|445962|445963|445964|495485|495692|512349|512351|512781|512784|513473|514740|538476|551327|589844|611883|622447|622920|626389|788922|791857|791858|798733|798734|798735|806011|806013|806014|903629|919796|920391|961342|963180|963852|964497|964498|969286|969560|969702|971101|972839|972973|972974|972975|972976|972977|972978|972979|972980|972981|972982|972983|972984|972985|972986", + "text": "Bainbridge-Ropers syndrome" + }, + { + "baseId": "79355|79356|165834|187251|187252|187254|361552|372476|373172|373174|373177|373192|373201|373407|373409|375357|375367|375382|408721|421946|437937|437938|445059|462380|462381|462391|462396|462397|462641|462647|463092|463108|463120|463122|463126|463131|463227|463228|463237|463239|463243|463248|463250|463256|480513|480514|488120|504010|504025|504562|527308|527314|527316|527319|527590|527601|527606|527610|527831|527833|527835|540458|565643|565645|566974|566977|566979|566980|568144|568145|568150|571959|609852|609853|641303|641304|641305|641306|641307|641308|641309|641310|652336|693254|693255|693256|702453|738798|778106|791263|791264|840139|840140|840141|840142|840143|840144|840145|905365|926689|926690|926691|936203|940273|941038|956911|960049|965224", + "text": "Interstitial lung and liver disease" + }, + { + "baseId": "79355|445062", + "text": "MARS-Related Disorder" + }, + { + "baseId": "79441", + "text": "Myoclonic encephalopathy" + }, + { + "baseId": "79442|79445|79451|134806|135699|181402|202439|203324|205317|362316|362344|362351|362353", + "text": "Focal epilepsy" + }, + { + "baseId": "79508|178411|513910", + "text": "Absence seizures" + }, + { + "baseId": "79508|143011|201223|226495|514004|551721|551751|679898|679899|861283|861284", + "text": "Generalized tonic-clonic seizures" + }, + { + "baseId": "79563|100010|100016|165893|538300|538301|538302|538303", + "text": "West syndrome" + }, + { + "baseId": "79644|536698|543869", + "text": "UV-sensitive syndrome 2" + }, + { + "baseId": "79656|131887|131888|131889|131890|131891|131894|131895|131896|131897|131898|131899|138990|208505|208506|208507|208509|208513|208514|208515|208516|208518|208519|208524|208530|208531|222763|222765|222771|222772|222774|222777|243090|243097|243100|243110|243131|243132|243134|243145|243150|243153|243165|243170|243180|243185|243190|243194|243197|243204|243213|243221|243238|243244|243257|332432|332433|332438|332439|332443|332444|332449|337612|337623|342585|342586|342591|342599|342601|342603|342605|342610|342611|342614|342618|342619|342624|347191|347975|347980|347982|347987|347991|347996|348000|349277|349279|349281|349283|349284|349286|349288|361125|361126|377075|402931|403060|403500|425361|578442|622450|879824|918273|961514|963483|963484|974524|974525|975848", + "text": "Coffin-Siris syndrome" + }, + { + "baseId": "79696|550300|550301|550311", + "text": "Thrombotic thrombocytopenic purpura" + }, + { + "baseId": "80741|80741|94567|167460|167460|167461|406294|413626|413627|443449|452329|452334|452338|452342|452344|452349|452355|452362|452363|452372|452377|452379|452386|452388|452399|452505|452509|452511|452512|452516|452523|452542|452546|452550|452552|452554|452556|452558|452565|452569|452570|452571|452573|452581|452582|452588|452595|452596|452623|452624|452628|452629|452635|452650|452652|452654|452658|452668|452669|452670|452674|452678|452685|452688|452705|452706|452814|452817|452820|452821|452823|452854|452859|452865|452867|452877|452893|452895|452899|452900|452902|452904|452905|452909|481692|519218|519220|519222|519226|519228|519230|519232|519241|519243|519253|519258|519259|519261|519265|519271|519272|519273|519277|519279|519281|519283|519292|519297|519302|519305|519306|519307|519308|519312|519316|519319|519325|519326|519329|519334|519433|519436|519438|519441|519446|519447|519449|519451|519459|519460|519462|519464|519468|519471|519474|519483|519502|519507|519510|519513|519515|519518|519524|519526|519532|519536|519538|558972|558974|558976|558978|558980|558982|558984|558986|558988|559491|559493|559495|559497|559499|559501|561530|561535|561537|561540|561547|561548|561552|561553|561554|561556|561560|561566|562870|562871|562873|562874|562876|562877|562882|562884|562886|562887|562888|562910|562919|625107|631357|631358|631359|631360|631361|631362|631363|631364|631365|631366|631367|631368|631369|631370|631371|631372|631373|631374|631375|631376|631377|631378|631379|631380|631381|631382|631383|631384|631385|631386|631387|631388|631389|631390|631391|631392|631393|631394|631395|631396|631397|631398|631399|631400|631401|631402|651049|651069|651088|651196|679892|686427|686428|691399|691401|691402|691403|691404|691407|691408|691411|695202|698067|720424|720426|734044|734048|744019|748241|763876|763878|763879|763882|763885|778988|781669|781671|787306|795426|795427|821889|821890|828101|828102|828103|828104|828105|828106|828107|828108|828109|828110|828111|828112|828113|828114|828115|828116|828117|828118|828119|828120|828121|828122|828123|828124|828125|828126|828127|828128|828129|828130|828131|828132|828133|828134|828135|828136|828137|828138|828139|828140|828141|828142|828143|828144|850940|850942|851387|851390|923187|923188|923189|923190|923191|923192|923193|923194|923195|923196|923197|923198|931946|931947|931948|931949|931950|931951|931952|939939|939940|940750|940751|943533|943534|943535|943536|943537|943538|943539|943540|943541|943542|943543|943544|943545|943546|943547|943548|943549|943550|943551|943552|943553|953471|953472|953473|953474|953475|953476|953477|953478|953479|953480|953481|961264", + "text": "Episodic pain syndrome, familial, 3" + }, + { + "baseId": 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+ "text": "Neuropathy, hereditary sensory and autonomic, type VII" + }, + { + "baseId": "81031|611474|611475|611476|611477|611478|611479|679873|679874|679875|679876|679877|679878|798549|798550", + "text": "Neurodevelopmental disorder and language delay with or without structural brain abnormalities" + }, + { + "baseId": 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+ "text": "Epidermolysis bullosa simplex with nail dystrophy" + }, + { + "baseId": "82378|104323|104324|104326|104328|104329|104333|104334|134649|134652|134653|134654|141218|141221|141222|141223|141224|171801|171802|202652|202654|202655|202656|202658|202661|202663|202664|202669|202671|202672|202676|202677|202678|202680|202681|205273|207945|225816|225816|226651|231830|231831|231834|231844|241528|241529|244773|244777|244778|244780|244782|244785|244787|244791|244793|244794|244797|244800|244803|244810|244814|244815|264589|323830|323834|323848|329924|331237|360033|360082|360939|360939|363682|372139|372862|372872|373105|374861|384421|398860|398865|398867|398874|398876|399031|399032|399034|399332|399340|399343|399345|399346|399587|421912|424660|429407|429408|462048|462052|462055|462057|462059|462310|462312|462315|482276|503713|504002|504011|504018|504233|504235|504242|504700|527011|527015|527017|527018|527021|527029|527224|527229|527234|527237|527240|527242|527244|527544|527546|536833|551720|551720|551786|552156|552158|553385|565352|565355|565355|566731|566732|566738|566744|566746|567923|567926|567928|567929|567934|567941|571707|571713|571720|571731|579767|579773|579777|611410|614369|640993|640994|640995|640996|640997|640998|640999|641000|641001|641002|641003|641004|641005|641006|641007|641008|652460|652688|684314|684316|687937|687938|687939|687940|687942|687946|693171|753264|769021|769025|784347|788865|815997|816474|820452|820453|822058|822059|822060|822061|822062|822063|822064|822065|822066|822067|822068|839694|839695|839696|839697|839698|839699|839700|839701|839702|839703|839704|839705|839706|839707|839708|839709|839710|839711|839712|839713|839714|839715|839716|839717|839718|852467|859953|904918|906189|917108|926574|926575|926576|926577|926578|926579|926580|936038|936039|936040|936041|936042|941028|947919|947920|947921|947922|947923|956820|956821|956822|956823|956824|969373|970957|976661", + "text": "Epileptic encephalopathy, early infantile, 27" + }, + { + "baseId": "82560|165899|430131|577876|614385|793759|861077|861078|861079|861080|861081|861082|861083|861084|861085", + "text": "Vascular dementia" + }, + { + "baseId": "82699|254996|254998|254999|255000|255001|255002|255003|255004|255005|255006|255008|255009|255010|255011|255012|255013|255014|255015|255017|255018|255019|255020|255023|255024|255025|255026|255027|255028|255029|255030|255032|255034|255035|276671|276673|276686|276691|276726|276763|276949|276950|276955|277004|277518|277521|277522|277526|277528|277548|277604|277610|277611|277623|277627|277653|277727|277730|277732|277750|277761|320929|320932|320938|320939|320943|320944|320945|320946|320948|320950|320951|320952|320960|320961|320965|320968|320974|320978|320979|320984|320986|329977|329979|329981|329982|329989|330005|330010|330013|330016|330018|330019|330020|330025|330030|330031|330033|330037|330038|330046|330048|330056|330057|330058|330064|330065|330069|330072|336523|336537|336538|336543|336550|336556|336557|336560|336564|336566|336569|336572|336573|336577|336578|336581|336587|336593|338442|338445|338446|338453|338456|338460|338461|338471|338472|338474|338477|338478|338485|338486|338499|338500|338501|338518|338521|338529|338532|338533|338535|338538|338539|338543|338544|338547", + "text": "Elliptocytosis" + }, + { + "baseId": "82699|254996|254998|254999|255000|255001|255002|255003|255004|255005|255006|255008|255009|255010|255011|255012|255013|255014|255015|255017|255018|255019|255020|255023|255024|255025|255026|255027|255028|255029|255030|255032|255034|255035|305268|305280|305289|305321|309074|314297|314308|314318|314321|314333|314404|314408|320929|320932|320938|320939|320943|320944|320945|320946|320948|320950|320951|320952|320960|320961|320965|320968|320974|320978|320979|320984|320986|328660|328662|328672|328673|329977|329979|329981|329982|329989|330005|330010|330013|330016|330018|330019|330020|330025|330030|330031|330033|330037|330038|330046|330048|330056|330057|330058|330064|330065|330069|330072|336523|336537|336538|336543|336550|336556|336557|336560|336564|336566|336569|336572|336573|336577|336578|336581|336587|336593|338442|338445|338446|338453|338456|338460|338461|338471|338472|338474|338477|338478|338485|338486|338499|338500|338501|338518|338521|338529|338532|338533|338535|338538|338539|338543|338544|338547|338624|338631|338649|338655|344704", + "text": "Spherocytosis, Dominant" + }, + { + "baseId": "82961|185748|249203|249204|512212|971605|971606|971607|971609|971610|976665", + "text": "Mental retardation, autosomal recessive 49" + }, + { + "baseId": "83715|104193|104194|104195|104196|104197|104198|104199|104200|104201|104202|104203|104204|104205|104206|104207|104208|104209|104210|104211|104212|104213|104214|104215|104216|104217|104218|104219|104220|104221|104222|104223|104224|104225|104226|104227|104228|104229|104230|104231|104232|104233|104234", + "text": "Tobacco use disorder" + }, + { + "baseId": "83803|166569|214480|363332|404624|511151|575484|798076|800806|800807|800809|800811|800812|921576|966338|966339|969259|969260|969261|969262|972733", + "text": "CEBALID syndrome" + }, + { + "baseId": "83803|798076|800806|800807|800809|805119|966338|967136|967137|967138", + "text": "MN1 C-terminal truncation (MCTT) syndrome" + }, + { + "baseId": "83949", + "text": "RAS Inhibitor response" + }, + { + "baseId": "84057|188136|188137|214794|214795|214796|214797|214798|226505|226506|226507|226508|226509|362381|424491|424637|427635|442619|511167|513490|550574|550575|578747|611372|611373|653845|653911|654148|788724|789842|789843|789844|805076|805084|918555|918556|961027|964011|964128|964710|970658|971564|975854", + "text": "White-sutton syndrome" + }, + { + "baseId": "85522|380153|389514|428056|428058|448600|450908|450909|450925|451019|451022|451032|451212|451214|451216|451217|451222|451224|451231|451236|511424|514470|518228|518229|518231|518237|518241|518242|518268|518273|518278|538968|539197|539198|539199|539200|557442|558097|558099|558101|558103|558105|558464|558466|558468|558470|558643|560639|589084|589085|630010|630011|630012|630013|630014|630015|630016|630017|630018|630019|630020|630021|630022|630023|630024|630025|630026|630027|630028|630029|630030|630031|630032|650961|679597|686212|691163|691164|691165|691167|691168|691169|691170|691171|691172|691173|691174|691175|695145|697573|697575|697578|697581|743877|747652|747654|763250|777278|799301|819171|819172|819173|826490|826491|826492|826493|826494|826495|826496|826497|826498|826499|826500|826501|826502|826503|826504|826505|826506|826507|826508|826509|826510|826511|904185|904425|922777|922778|922779|922780|922781|922782|931410|931411|931412|931413|931414|931415|931416|931417|942927|942928|942929|942930|942931|942932|942933|942934|942935|942936|942937|942938|942939|942940|942941|953095|953096|963126", + "text": "Myasthenic syndrome, congenital, 22" + }, + { + "baseId": "86128|86130|86132|86134|86136|964554", + "text": "Idiopathic basal ganglia calcification 5" + }, + { + "baseId": "86177|199922|199923|199925|199927|199928|199929|199930|199931|199932|199936|200703|204039|204062|359478|414962|428275|440835|443568|452956|452957|452959|452960|452961|452962|453265|453268|453269|453337|453338|453340|453345|453347|453348|453350|453352|453354|453718|453719|453722|453724|453726|453727|481475|481476|481478|519721|519726|519728|519739|519743|519747|519750|519752|519936|519991|519993|519996|519997|520010|520012|520015|536661|538979|559545|559581|559583|559728|559730|559732|559734|559736|561885|561887|561892|561895|563434|563440|563453|563457|575512|576330|631914|631915|631916|631917|631918|631919|631920|631921|631922|631923|631924|631925|631926|631927|631928|631929|631930|631931|631932|631933|631934|631935|631936|631937|631938|631939|631940|631941|654124|698364|698366|698367|720744|720745|720746|730261|748714|748715|759319|764295|764296|764299|764303|764306|774880|781865|781866|781867|818233|819441|819442|828745|828746|828747|828748|828749|828750|828751|828752|828753|828754|828755|828756|828757|828758|828759|828760|828761|828762|828763|828764|828765|828766|828767|828768|828769|828770|828771|828772|828773|828774|828775|828776|828777|828778|828779|828780|828781|828782|828783|828784|851479|851586|903532|923405|923406|923407|923408|923409|923410|923411|923412|923413|923414|923415|923416|923417|923418|923419|923420|923421|923422|932152|932153|932154|932155|932156|932157|932158|932159|932160|932161|932162|932163|932164|932165|943789|943790|943791|943792|943793|953661|953662|953663|953664|953665|953666|970784|970785|970786|972784|980912", + "text": "Epilepsy, hearing loss, and mental retardation syndrome" + }, + { + "baseId": "91475|106831|106832|106833|106834|205788|205789|260578|375291|375299|375330|376197|376230|376232|376338|378494|378500|410063|411591|411592|411593|413453|426232|429990|438649|466977|467055|467921|467970|467972|467973|468169|468172|468245|468372|468478|531228|531421|531425|531432|531476|531724|569245|569314|571300|571305|571602|571624|571703|646170|646171|646172|646173|646174|646175|646176|646223|646224|646225|646226|646227|646228|653471|653475|653479|694110|694112|694113|694129|694130|694132|694134|694135|695753|695754|695755|695760|704208|727253|755932|776346|797559|802220|821104|845599|845600|845645|845646|845647|851727|851729|852756|860400|904649|938035|950025|958193|958194", + "text": "Ataxia, spastic, 2, autosomal recessive" + }, + { + "baseId": "91819|141566|141567|141568|141569|141571|141572|165726|226730|226731|226732|226733|227400|247156|256738|256739|256740|256741|256742|271335|332348|332352|332355|332359|332361|332366|332368|332375|332377|332381|332382|342508|342513|342514|342517|342518|342520|342526|342527|342530|342531|342533|342535|342538|342540|347911|347912|347914|347915|347919|347920|347921|347922|347926|347929|347932|349242|349245|349246|360352|377025|377042|377212|377222|379171|379173|422232|434354|434355|446017|446019|468200|469092|469949|506423|507450|532391|532401|532406|532410|532456|532471|532472|532526|532528|532532|532859|532861|532871|532889|532894|570322|570323|570324|570327|570332|570336|572051|572053|572734|572737|572740|574797|574798|574799|574800|574801|574802|574804|574806|614453|624649|647418|647419|647420|647421|647422|647423|647424|647425|647426|647427|647428|647429|647430|647431|647432|647433|647434|647435|647436|647437|647438|647439|647440|647441|647442|647443|647444|647445|647446|647447|647448|647449|652975|653590|716119|716120|716121|727848|727849|727850|731232|741499|741501|756611|756613|756615|756617|756619|760552|760664|772294|772295|788231|821202|821203|821204|847045|847046|847047|847048|847049|847050|847051|847052|847053|847054|847055|847056|847057|847058|847059|847060|847061|847062|847063|847064|847065|851781|852829|879762|879763|879764|879765|879766|879767|879768|879769|879770|879771|879772|879773|879774|879775|879776|879777|879778|879779|879780|879781|879782|879783|879784|879785|879786|879787|879788|879789|879790|879791|879792|879793|879794|879795|879796|879797|879798|879799|879800|879801|879802|880682|880683|880684|880685|880686|928784|928785|938502|938503|938504|938505|938506|938507|938508|938509|938510|938511|950595|950596|950597|950598|950599|950600|950601|950602|950603|958501|958502|958503|958504|958505|958506|958507|958508|958509", + "text": "Tyrosine kinase 2 deficiency" + }, + { + "baseId": "92620|335886|335890|335894|335899|335901|335902|335904|335907|335909|335911|335914|335915|345594|345596|345598|345601|345602|345606|345617|350157|350158|350159|350161|350162|350163|350164|350167|350173|351214|351217|351218|351221|351222|351225|351226|351229|351230|351237|351238|434496|434497|620666|705566|717065|717066|717068|717070|728738|728739|757620|798766|886323|886324|886325|886326|886327|886328|886329|886330|886331|886332|886333|886334|886335|886336|886337|886338|886339|886340|886341|886342|886343|886344|886345|887474|887475|887476|920418", + "text": "Phosphoenolpyruvate carboxykinase deficiency, cytosolic" + }, + { + "baseId": "92718|94413|380176|439199|469550|469552|469557|469561|469562|469563|469565|469567|469569|469576|470593|470595|470597|470598|470600|470606|470608|470609|470612|470613|471083|471088|471092|471096|471100|471102|471106|471107|471114|471120|471125|471126|471129|471133|471135|471567|471569|471571|471573|471577|471579|471582|471582|471585|471589|471591|471594|471599|533751|533758|533759|533768|533775|533777|533778|533779|533780|533781|533782|533784|533786|533787|533788|533789|533791|533792|533794|533795|533798|533799|533800|533801|533802|533804|533805|533809|533811|533814|533815|533816|533818|533825|534347|534349|534351|534354|534356|534364|534367|534368|534372|539985|571475|571476|571479|571485|571486|571490|571492|571498|571499|571503|571505|573029|573034|573036|573038|573042|573050|573055|573058|573060|573062|573063|573717|573729|573731|573736|573738|573739|573740|573746|573748|573749|573750|573754|573756|573757|573759|575147|575148|575149|575150|575151|622474|648889|648890|648891|648892|648893|648894|648895|648896|648897|648898|648899|648900|648901|648902|648903|648904|648905|648906|648907|648908|648909|648910|648911|648912|648913|648914|648915|648916|648917|648918|648919|648920|648921|648922|648923|648924|648925|648926|653575|653662|653666|694623|705654|705656|705657|717181|728858|728859|728860|742586|742588|742589|745133|757736|757737|757738|757740|757741|757743|757744|757747|773284|773286|773293|776944|776945|776946|780000|786481|786483|786484|788255|788353|798019|798022|821352|821361|821362|848670|848671|848672|848673|848674|848675|848676|848677|848678|848679|848680|848681|848682|848683|848684|848685|848686|848687|848688|848689|848690|848691|848692|848693|848694|848695|848696|848697|848698|848699|848700|848701|848702|848703|848704|848705|848706|848707|848708|848709|848710|848711|848712|848713|848714|848715|848716|848717|848718|848719|848720|851857|852396|852914|929282|929283|929284|929285|929286|929287|929288|929289|929290|929291|929292|929293|929294|929295|929296|929297|929298|929299|929300|929301|929302|929303|939069|939070|939071|939072|939073|939074|939075|939076|939077|939078|939079|939080|939081|939082|939083|941257|941258|951192|951193|951194|951195|951196|951197|951198|951199|951200|951201|951202|951203|951204|951205|951206|951207|951208|951209|958932|958933|958934|958935|958936|958937|958938|958939|958940|958941|960325|960950|980855|980856", + "text": "Parkinson disease 20, early-onset" + }, + { + "baseId": "92718|380177|380178|380179|380180|439199|469550|469552|469557|469561|469562|469563|469565|469567|469569|469576|470593|470595|470597|470598|470600|470606|470608|470609|470612|470613|471083|471088|471092|471096|471100|471102|471106|471107|471114|471120|471125|471126|471129|471133|471135|471567|471569|471571|471573|471577|471579|471582|471582|471585|471589|471591|471594|471599|533751|533758|533759|533768|533775|533777|533778|533779|533780|533781|533782|533784|533786|533787|533788|533789|533791|533792|533794|533795|533798|533799|533800|533801|533802|533804|533805|533809|533811|533814|533815|533816|533818|533825|534347|534349|534351|534354|534356|534364|534367|534368|534372|571475|571476|571479|571485|571486|571490|571492|571498|571498|571499|571503|571505|573029|573034|573036|573038|573042|573050|573055|573058|573060|573062|573063|573717|573729|573731|573736|573738|573739|573740|573746|573748|573749|573750|573754|573756|573757|573759|575147|575148|575149|575150|575151|622474|648889|648890|648891|648892|648893|648894|648895|648896|648897|648898|648899|648900|648901|648902|648903|648904|648905|648906|648907|648908|648909|648910|648911|648912|648913|648914|648915|648916|648917|648918|648919|648920|648921|648922|648923|648924|648925|648926|653575|653662|653666|694623|705654|705656|705657|717181|728858|728859|728860|742586|742588|742589|745133|757736|757737|757738|757740|757741|757743|757744|757747|773284|773286|773293|776944|776945|776946|780000|786481|786483|786484|788255|788353|798019|798019|798022|798924|821352|821361|821362|848670|848671|848672|848673|848674|848675|848676|848677|848678|848679|848680|848681|848682|848683|848684|848685|848686|848687|848688|848689|848690|848691|848692|848693|848694|848695|848696|848697|848698|848699|848700|848701|848702|848703|848704|848705|848706|848707|848708|848709|848710|848711|848712|848713|848714|848715|848716|848717|848718|848719|848720|851857|852396|852914|919932|929282|929283|929284|929285|929286|929287|929288|929289|929290|929291|929292|929293|929294|929295|929296|929297|929298|929299|929300|929301|929302|929303|939069|939070|939071|939072|939073|939074|939075|939076|939077|939078|939079|939080|939081|939082|939083|941257|941258|951192|951193|951194|951195|951196|951197|951198|951199|951200|951201|951202|951203|951204|951205|951206|951207|951208|951209|958932|958933|958934|958935|958936|958937|958938|958939|958940|958941|960325|960950|966776", + "text": "Epileptic encephalopathy, early infantile, 53" + }, + { + "baseId": "93526|453713", + "text": "B Lymphoblastic Leukemia/Lymphoma with t(v" + }, + { + "baseId": "93526|453713|612012", + "text": "11q23.3)" + }, + { + "baseId": "93526|453713|612012", + "text": " KMT2A Rearranged" + }, + { + "baseId": "94194|94195|244155|438283|438284|453001|453003|453014|453020|453292|453301|453305|453307|453308|453389|453392|453400|453403|453404|453606|453791|453798|519773|519780|519782|519786|519798|519802|519806|520049|520051|520056|520100|559617|559772|559774|559776|559778|559780|561935|561940|561950|563538|609531|632033|632034|632035|632036|632037|632038|632039|632040|632041|632042|632043|632044|632045|632046|632047|632048|632049|632050|632051|632052|632053|691513|691514|691517|691519|691520|691521|695218|698396|720795|748774|764352|764354|764357|764358|787414|828884|828885|828886|828887|828888|828889|828890|828891|828892|828893|828894|851491|923443|923444|923445|923446|932212|932213|932214|932215|932216|932217|932218|943848|943849|943850|943851|943852|943853|953692|953693", + "text": "Charcot-Marie-Tooth disease, axonal, type 2R" + }, + { + "baseId": "94224|362490|362491|513218", + "text": "Spastic paraplegia 79, autosomal recessive" + }, + { + "baseId": "94225|94226|94227|208297|422102|553394|585918|613830|791631|798701|799962|964875|971053|973042", + "text": "Mental retardation, autosomal dominant 21" + }, + { + "baseId": "94228|94229", + "text": "Major depressive disorder" + }, + { + "baseId": "94232|94233|94234|428697|456514|456515|456517|456519|456521|456906|456909|456920|457142|457144|457145|457595|502324|522507|522745|522749|522822|523180|561038|564180|566634|635965|651672|692192|692194|692195|692197|692198|692199|692200|699973|699975|699978|699979|699980|699981|699982|710913|710914|710915|736057|736058|759656|851146|906251|906252|924776|945542|945543|945544|955101|960628", + "text": "Short-rib thoracic dysplasia 8 with or without polydactyly" + }, + { + "baseId": "94236|171810|207747|207753|207758|207768|207769|207781|247043|373416|407873|429080|429084|429095|429098|429099|538414|578486|790966|790967|790968|906324|919279|919280|919281|919282|920283", + "text": "Mental retardation, autosomal recessive 37" + }, + { + "baseId": "94238|94239|94240|361491|371686|371690|421789|459888|459897|460072|460326|460441|460756|502795|525348|525652|525657|563779|564593|638941|638942|638943|638944|638945|638946|638947|655993|684175|684176|684177|684179|687636|687637|687639|687641|687643|692844|820189|836873|925815|925816|925817|956056|970613|981693|981694|981695", + "text": "Telangiectasia, hereditary hemorrhagic, type 5" + }, + { + "baseId": "94241|94242|624846|788733|789911", + "text": "Orofaciodigital syndrome V" + }, + { + "baseId": "94249|94250", + "text": "Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige" + }, + { + "baseId": "94253|206596|404733|431173|954586|970260|970261|970262|970263|970264|970265|970266|970268|970272|970303|970310|970311|970312|970313|970314|970315|970316|970317|970319|970322|970329|970330|970331|970332|970333|970345|970346|970349|970350|970352|970353", + "text": "Moyamoya angiopathy" + }, + { + "baseId": "94255|136555|136556|136557|359280|405271|405272|433818|433819|433820|448257|448261|448268|448270|448272|448274|448280|448389|448396|448464|448465|448466|448467|448471|516096|516098|516102|516106|516116|516138|516143|516145|516147|516152|516246|516251|557388|557431|558044|558046|558601|558603|558605|609440|624193|628289|628290|628291|628292|628293|628294|628295|628296|628297|628298|628299|628300|628301|628302|628303|650692|650694|650702|650778|696925|707607|707608|707609|707610|719147|719148|719149|732670|732671|732673|732674|732675|732677|746693|746695|746696|746697|746698|746699|758953|759087|762107|762116|774556|774558|778843|780782|780784|780785|790020|794748|799231|799232|818824|819006|824551|824552|824553|824554|824555|824556|824557|824558|824559|824560|824561|824562|824563|824564|920155|922176|922177|922178|922179|922180|930711|930712|930713|930714|930715|930716|939833|940649|940650|942149|942150|942151|942152|942153|952558|952559|952560|952561|952562|960436|961926|970704", + "text": "Immunodeficiency 14" + }, + { + "baseId": "94260|94261|94263|94264|221749|240211|240212|240213|240214|240215|240216|240217|240218|389829|395838|395839|395845|395854|395857|396112|396113|396116|396234|396242|396243|396245|396255|396522|396523|396524|396526|396527|396529|396531|396533|396541|439015|457123|457126|457709|457710|457718|457719|457726|457728|457731|457733|457741|457757|457759|457760|457761|457763|458123|458130|458136|458139|458141|458143|522958|522963|523184|523186|523194|523197|523422|523426|523543|561867|561872|561876|561879|561880|561881|561883|564574|564575|567313|567315|567317|636523|636524|636525|636526|636527|636528|636529|636530|636531|636532|651756|651882|683959|687156|689896|692339|819933|834020|834021|834022|834023|834024|834025|834026|834027|834028|834029|924976|924977|924978|934057|934058|934059|934060|934061|945814|945815|945816|945817|945818|945819|945820|955270|955271|955272", + "text": "Ciliary dyskinesia, primary, 28" + }, + { + "baseId": "94265|222252|241554|241555|241556|254588|254589|398992|398995|398997|399146|399147|399459|399461|399463|399475|399476|399718|399722|462190|462470|462473|462479|462976|462979|462988|462994|463102|463105|463107|527444|527733|565486|568052|568057|641145|641146|641147|641148|641149|684328|685381|687994|687995|687996|687997|839968|839969|851951|926638|926639|926640|926641|936137|936138|948046|956887|956888|956889|956890|960045", + "text": "Ciliary dyskinesia, primary, 27" + }, + { + "baseId": "94269|94270|205563|533776|857601", + "text": "Ciliary dyskinesia, primary, 26" + }, + { + "baseId": "94271|94272|94273|94274|94275|271315|366397|366398|366399|366452|367034|367039|439637|450680|499936|560992|708066|708067|747352|747353|762966|781193|825789|825790|942627|952952", + "text": "Alacrima, achalasia, and mental retardation syndrome" + }, + { + "baseId": "94274|263260", + "text": "Gastroesophageal reflux" + }, + { + "baseId": "94314|256107|345378", + "text": "Immunodeficiency 13" + }, + { + "baseId": "94315|243992|374023|513626|513627|538439|553390|626235|626236|626237|626238|791438|791439|792795|801563|858761|971011|971012", + "text": "Mental retardation, autosomal recessive 38" + }, + { + "baseId": "94316|187105|215660|259635|404973|590035|861559", + "text": "Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome" + }, + { + "baseId": "94331|94332|94333|970819", + "text": "Cole disease" + }, + { + "baseId": "94334|94335|94336|177793|188055|209190|225836|243875|265066|265173|265174|361253|361254|384417|430926|432099|432100|432101|471006|471007|471013|471017|471018|471979|471980|471993|472204|488165|534935|534937|534962|534964|534967|534969|534972|535075|535197|535198|535199|551349|552265|572589|574006|574009|574010|574011|574015|574897|574899|574901|574903|574912|574913|575451|575452|583209|611459|614510|650205|650209|650213|650214|650215|650217|650225|650226|672120|706317|743476|774210|792502|906198|915069|929812|929813|929818|939683|959506|963194|964906|969322|971502", + "text": "Mental retardation, X-linked 98" + }, + { + "baseId": "94338|94339|919600", + "text": "Corneal dystrophy, Fuchs endothelial, 8" + }, + { + "baseId": "94341|94342|94343|94344|215046|215047|452503|481684|519050|550592|562641|631120|691363|695194|698011|698012|698013|748179|763801|779050|788763|819363|827831|827832|858551|931874|976007", + "text": "Microphthalmia, syndromic 12" + }, + { + "baseId": "94347|455150|455288|456026|456031|521302|521304|521681|521685|521933|521937|521939|560413|560415|560417|560530|560535|560536|563315|563318|563320|565307|565308|565313|614296|634489|634490|634491|634492|634493|634494|634495|699257|699258|699259|721669|721673|721674|735363|749763|782412|819649|831412|831413|831414|831415|831416|831417|831418|831419|831420|924220|924221|924222|933126|933127|944851|944852|954324|954325|959789", + "text": "Candidiasis, familial, 8" + }, + { + "baseId": "94407|457788", + "text": "Testicular anomalies with or without congenital heart disease" + }, + { + "baseId": "94408|94409|94410|94411|94412", + "text": "Reticulate acropigmentation of Kitamura" + }, + { + "baseId": "94414", + "text": "Microtia with or without hearing impairment" + }, + { + "baseId": "94415|94416", + "text": "Craniosynostosis 5, susceptibility to" + }, + { + "baseId": "94417|368674|368822|439518|455159|455801|501087|501096|501777|521626|583098|634512|634513|655701|655706|699265|749775|831459", + "text": "Ehlers-Danlos syndrome, musculocontractural type 2" + }, + { + "baseId": "94418", + "text": "Autosomal recessive infantile epilepsy" + }, + { + "baseId": "94418|181458", + "text": "Infantile epilepsy" + }, + { + "baseId": "94423|94424|220990|260693|439003|448222|448345|448350|448369|448427|516077|516227|516230|557423|612540|628246|628247|628248|650698|690662|690664|690665|690667|690668|690669|690670|690671|690672|690673|818991|824384|824385|824386|824387|930653|942092|952507|964803", + "text": "Parkinson disease 19a, juvenile-onset" + }, + { + "baseId": "94423|172297|421965", + "text": "Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus" + }, + { + "baseId": "94425|205220|225855|227705|227734|384399|404642|424614|434502|536094|538333|550579|608800|654114|677403|789954|798468|802120|861560|963479|963480|964151|976641|980551", + "text": "Mental retardation, autosomal dominant 22" + }, + { + "baseId": "94429|94430|94431|583121", + "text": "Deafness and myopia" + }, + { + "baseId": "94436|94437|801840", + "text": "Mental retardation, autosomal recessive 39" + }, + { + "baseId": "94438|903540|965965", + "text": "Periventricular nodular heterotopia 6" + }, + { + "baseId": "94439", + "text": "Deafness, autosomal recessive 76" + }, + { + "baseId": "94450|108170|404780|431977|431978", + "text": "Platelet-type bleeding disorder 17" + }, + { + "baseId": "94451|508729|790912", + "text": "Leukemia, acute lymphoblastic, susceptibility to, 3" + }, + { + "baseId": "94454|439604|439605|439606|439607|550136|623298|626383|682737|682737|790710|798583|903552|919091|919092|919093|921214|963622|970847|970848|970849|970850|970851", + "text": "Kleefstra syndrome 2" + }, + { + "baseId": "94530|105990|106004|623100", + "text": "fluorouracil response - Toxicity/ADR" + }, + { + "baseId": "94530", + "text": "Pyrimidine analogues response - Toxicity/ADR" + }, + { + "baseId": "94530|106004|623100", + "text": "capecitabine response - Toxicity/ADR" + }, + { + "baseId": "94530|106004", + "text": "tegafur response - Toxicity/ADR" + }, + { + "baseId": "94536|614260|858550", + "text": "Diamond-Blackfan anemia 12" + }, + { + "baseId": "94550", + "text": "Multiple fibroadenomas of the breast" + }, + { + "baseId": "94551|94552|94553|225826|225827|431551|578492|965985|965986", + "text": "Van Maldergem syndrome 1" + }, + { + "baseId": "94554|94555|94556|94557|187954|190563|190579|205286|205286|225862|298419|300776|305161|305266|390647|413396|422002|434101|434102|434104|539166|539167|590731|679792|791431|805104|858668|961320|961531|963169|971008", + "text": "Schaaf-Yang syndrome" + }, + { + "baseId": "94558|94559|94560|94561|94562|94563|367890|367898|406400|513269|513417|578427|612350|790433|802149|802150", + "text": "Van Maldergem syndrome 2" + }, + { + "baseId": "94560|165908|165909|165910|165911|363766|918878|918879", + "text": "Hennekam lymphangiectasia-lymphedema syndrome 2" + }, + { + "baseId": "94568|94569|227259|239219|239222|363675|393828|394016|406288|424892|443446|452323|452496|452800|519252|559489|918830|920192|920193", + "text": "Episodic pain syndrome, familial, 2" + }, + { + "baseId": "94572|513220|789154|816492", + "text": "Otofaciocervical syndrome 2" + }, + { + "baseId": "94573|590590|590591", + "text": "Hyperprolactinemia" + }, + { + "baseId": "94575|94576|446969|446972|448523|448545|514863|514883|514888|514890|514891|514899|514906|516200|516201|516208|516288|556505|556507|556535|556849|556886|557414|626464|626465|628362|690686|695915|706511|706512|706513|707621|718029|729896|731499|731500|745484|801580|822351|822352|822353|822354|824610|824611|918536|921530|921531|922203|930742|930743|930744|939767|941321|942174|960394|977419|977420|977574", + "text": "Arthrogryposis, mental retardation, and seizures" + }, + { + "baseId": "94577|153773", + "text": "Macrocephaly/megalencephaly syndrome, autosomal recessive" + }, + { + "baseId": "94618|167523|167524|433862|452735|452745|453087|453097|453099|453101|453103|453442|519584|519632|519637|519641|519852|519873|519875|559662|561791|563274|563281|563282|609516|614269|631745|631746|631747|631748|631749|631750|631751|631752|631753|631754|631755|631756|631757|631758|631759|631760|631761|651124|651236|708989|708990|708991|720580|720582|730232|734212|734214|734215|744103|748444|748445|748446|759448|764100|764102|764103|764107|774857|779166|781779|781782|781783|787398|828511|828512|828513|828514|828515|828516|828517|828518|828519|828520|828521|828522|828523|828524|828525|828526|828527|828528|828529|859292|923325|923326|923327|923328|923329|923330|932068|932069|932070|932071|932072|940763|943687|943688|943689|953577|953578|953579|961934|981433", + "text": "Autoimmune lymphoproliferative syndrome, type III" + }, + { + "baseId": "94805|94837|94853", + "text": "MISMATCH REPAIR CANCER SYNDROME 3" + }, + { + "baseId": "94964", + "text": "Colorectal cancer, early onset" + }, + { + "baseId": "94992|96714|550665", + "text": "Malignant tumor of sigmoid colon" + }, + { + "baseId": "95421|169841|263323|485951|514022|590085|801162", + "text": "Choreoathetosis" + }, + { + "baseId": "95421|485951", + "text": "Aqueductal stenosis" + }, + { + "baseId": "96064|133250|233596|590605|590607|590608", + "text": "Colon polyps" + }, + { + "baseId": "96098", + "text": "Neoplasm of the rectum" + }, + { + "baseId": "96795|188286|199803|360903|361045|361046", + "text": "Respiratory insufficiency" + }, + { + "baseId": "96795|199803", + "text": "Pulmonary insufficiency" + }, + { + "baseId": "96867", + "text": "Retinitis pigmentosa 67" + }, + { + "baseId": "96871|96872|96873|96874|96875|181288|181289|181290|181291|181293|203228|203228|203241|203242|614419|971044", + "text": "DOORS syndrome" + }, + { + "baseId": "97251|180234", + "text": "T Lymphoblastic Leukemia/Lymphoma" + }, + { + "baseId": "97317|97318|97319|205458|207494|207495|363880|369679|428751|438705|444193|513292|535733|535734|612282|622383|622888|623784|623785|623787|655822|700307|722761|736369|736371|744273|750864|782974|788821|788822|789122|790766|790767|834006|858590|965970|965971|973026|978409|978410|980927", + "text": "Asparagine synthetase deficiency" + }, + { + "baseId": "97322|97323|97324|97325|97326|97327|97328|362110|362111|362112|362113|962801|962802|962803|962841|976827", + "text": "Nephrotic syndrome, type 9" + }, + { + "baseId": "97331|454705|454709|454780|454783|454787|455242|455248|455252|455255|455546|455554|455558|455567|455568|455570|520846|520866|520881|520885|520890|520892|521120|521122|521135|521139|521143|521145|521261|521264|521267|521270|521273|521274|521276|521312|521314|521316|521322|521323|521325|521326|521327|521329|521335|521337|537473|540446|560183|560185|560187|560189|560191|560300|560302|560304|560306|560308|562921|562923|562925|562927|562931|562939|564905|564914|564923|564929|626149|633579|633580|633581|633582|633583|633584|633585|633586|633587|633588|633589|633590|633591|633592|633593|633594|633595|633596|633597|633598|633599|633600|691765|691766|691767|691768|691769|691771|695280|698895|698897|698899|698900|698901|698902|730340|734921|782208|816505|819565|830451|830452|830453|830454|830455|830456|830457|830458|830459|830460|830461|830462|830463|830464|830465|830466|830467|830468|830469|830470|830471|830472|851266|918929|923927|923928|923929|923930|923931|923932|923933|923934|932765|932766|932767|932768|932769|932770|932771|944453|944454|944455|944456|944457|944458|954076|954077|954078", + "text": "Distal hereditary motor neuronopathy 2D" + }, + { + "baseId": "97338|166235|214792|536084", + "text": "Split-hand/foot malformation 1" + }, + { + "baseId": "97339|153683|199889|199890|199891|199892|241893|399928|434940|480527|568296|919544|919545", + "text": "Loeys-Dietz syndrome 5" + }, + { + "baseId": "97423|172145", + "text": "Pigmented nodular adrenocortical disease, primary, 4" + }, + { + "baseId": "97439|214085|214086|214087|447131|447134|447201|515074|515075|515079|515081|515082|515129|515206|556649|626831|626832|626833|626834|626835|626836|626837|626838|626839|626840|626841|626842|626843|696095|718215|718216|731729|745688|745689|745693|758816|761206|761207|761208|822736|822737|822738|822739|822740|822741|822742|822743|822744|822745|822746|822747|850724|918557|921641|921642|921643|921644|930037|930038|930039|930040|930041|941453|952069|952070|952071", + "text": "Immunodeficiency 42" + }, + { + "baseId": "97523", + "text": "Worster-Drought syndrome" + }, + { + "baseId": "97529|97530|97531|481461|626195|677429", + "text": "Combined oxidative phosphorylation deficiency 18" + }, + { + "baseId": "97544|361261|413924|413927|424347|481211|511028|536072|576127|590426|590427|590428|590429|590430|613856|654131|788824|790785|917020|920252|961610|963647|963648|963649|964919|970876|974538", + "text": "Verheij syndrome" + }, + { + "baseId": "97548|378876|625990|625992|905861|983849", + "text": "Shukla-Vernon syndrome" + }, + { + "baseId": "97549|553224|553225|553226|553227|553228|553229|553230|974517|974534", + "text": "Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development" + }, + { + "baseId": "97566|97567", + "text": "Alzheimer disease 18" + }, + { + "baseId": "97587|97588|97589|97590|97591|97592|97593|97594|97595|97596|97597|97598|97599|97600|97601|97602|97603|97604|97605|97606|97607|97608|97609|97610|97611|97612|97613|97614|380469|513996|789378", + "text": "Uterine leiomyoma" + }, + { + "baseId": "97607|214479|362913", + "text": "Angiosarcoma" + }, + { + "baseId": "98157|98158|227292|227293|961951|980458", + "text": "Complement factor B deficiency" + }, + { + "baseId": "98160|98161|98162|653875", + "text": "Mental retardation, autosomal recessive 40" + }, + { + "baseId": "98163|173819|173835|173968|195351|195994|211038|211039|211046|211053|211055|211058|229181|361179|434047|496327|583094", + "text": "Cataract 41" + }, + { + "baseId": "98174", + "text": "MCAD deficiency, modifier of" + }, + { + "baseId": "98234|513942", + "text": "Spastic gait" + }, + { + "baseId": "98258", + "text": "Desmoid tumor" + }, + { + "baseId": "98304|267722|303599|763016|869989|978946", + "text": "Hereditary Disorder" + }, + { + "baseId": "98438|205029|205030|332697", + "text": "Glutaric acidemia" + }, + { + "baseId": "98707|138351|151532|152299|166742|166842|223370|223371|223372|223373|223374|223375|223376|223377|223378|223379|223380|223381|223382|223383|223384|223385|223386|223387|223389|223390|223391|223392|223393|223394|223396|223397|223398|223399|223400|223401|223402|223403|223404|223405|223406|223407|223408|223409|223410|223411|223412|223413|223414|223415|223416|223417|223418|223419|223420|223421|223422|223423|223424|223425|223426|223427|223428|223429|223430|223431|223432|223433|223434|223435|223436|223437|223438|223439|223440|223441|223442|223443|223444|223445|223446|223447|223448|223449|223450|223451|223452|223453|223454|223455|223456|223457|223458|223459|223460|223461|223462|223463|223464|223465|223466|223467|223468|223469|223470|223471|223472|223473|223474|223475|223476|223477|223478|223479|223480|223481|223482|223483|223484|223485|223486|223487|223488|223489|223490|223491|223492|223493|223494|223495|223496|223497|223498|223499|223500|223501|223502|223503|223504|223505|223506|223507|223508|223509|223510|223511|223512|223513|223514|223515|223516|223517|223518|223519|223520|223521|223522|223523|223524|223525|223526|223527|223528|223529|223530|223531|223532|223533|223534|223535|223536|223537|223538|223539|223540|223541|223542|223543|223544|223545|223546|223547|223548|223549|223550|223551|223552|223553|223554|223555|223556|223557|223558|223559|223560|223561|223562|223563|223564|223565|223566|223567|223568|223569|223570|223571|223572|223573|223574|223575|223576|223577|223578|223579|223580|223581|223582|223583|223584|223585|223586|223587|223588|223589|287838|362513|389509|464005|515301|524536|623760|623766|841761|873799|918052|918053|918054|918055|918056|918057|918058|918059|918060|918061|918062|918063|918064|918065|918066|918067|918068|918069|918070|918071|918072|918073|918074|918075|918076|918077|918078|918079|918080|918081|918082|918083|918084|918085|918086|918087|918088|918089|918090|918091|918092|918093|918094|918095|918096|918097|918098|918099|918100|918101|918102|918103|918104|918105|918106|967238", + "text": "Premature ovarian failure" + }, + { + "baseId": "98777|105003|215730|215731|215732", + "text": "Bull's eye maculopathy" + }, + { + "baseId": "98778|360817|513966|514150", + "text": "Central scotoma" + }, + { + "baseId": "98778|360817", + "text": "Retinal atrophy" + }, + { + "baseId": "98872|298910|298986|298989|301373|301403|305742|305746|305974|626155", + "text": "Congenital Muscular Dystrophy, LAMA2-related" + }, + { + "baseId": "98887|226138|360414|501808|514095", + "text": "Exercise-induced myalgia" + }, + { + "baseId": "98887|205181|226138|360414|501808|513930|514063|514095", + "text": "Myalgia" + }, + { + "baseId": "99151|99173|99182|99211|99212|169560|169580|171226|171231|171238|196375|208594|256909|256920|256925|256944|256948|256958|256987|257000|257032|257035|271556|274528|333301|333320|333371|333375|333410|333413|333414|333420|333435|333442|333452|333453|343386|343389|343390|343420|343425|343432|343435|343440|343453|343475|343476|343479|348713|348737|348738|348740|348758|348765|348777|349738|349753|349756|349757|349764|349779|434672|470144|539091|816391|858777", + "text": "Multiminicore Disease" + }, + { + "baseId": "99156|99159|136823|136845|171234|196498|198035|227850|246870|249594|275549|275550|279688|361053|488128|488129|488130|488143|488144|488145", + "text": "Malignant hyperthermia" + }, + { + "baseId": "99159", + "text": "Myopathy, progressive axial with cataracts" + }, + { + "baseId": "99159|260246|361054", + "text": "Developmental dysplasia of the hip" + }, + { + "baseId": "99159|361054", + "text": "Generalized muscle weakness" + }, + { + "baseId": "99334|99335", + "text": "Nicotine addiction, protection against" + }, + { + "baseId": "99373|338995|352104", + "text": "Fanconi Anemia, X-Linked" + }, + { + "baseId": "99373|187363|338995|352104|622117", + "text": "VACTERL association with hydrocephalus" + }, + { + "baseId": "99410|101295|101297|134224|134225|134226|134227|134228|134229|134230|134231|134232|140496|202767|202775|202777|202784|203262|203276|203280|203281|203288|320006|320007|320010|320014|320016|324885|324886|324887|324893|324895|324896|324903|324904|326766|328567|328568|328571|328572|328578|334497|334502|334506|334507|334510|334518|335053|335056|335059|336965|336972|341059|341060|341073|341075|342609|342612|342613|342620|353338", + "text": "Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive" + }, + { + "baseId": "99456|249397|276421|276422|276430|276436|276449|276467|276468|276481|276654|276661|276692|277165|277200|277212|277217|277239|277292|277301|277315|277324|277327|277334|277341|277346|279716|280963|280965|281107|434672|858780", + "text": "Congenital fiber-type disproportion" + }, + { + "baseId": "99456|101004|181376|186649|188272|237087|249397|259696|271659|276421|276422|276430|276436|276449|276467|276468|276481|276654|276661|276692|277165|277200|277212|277217|277239|277292|277301|277315|277324|277327|277334|277341|277346|279716|280963|280965|281107|357230|434571|442935|442968|448783|486874|486887|486889|486940|511331|516394|516477|541416|541466|541518|541562|541648|541687|541733|541761|559236|559286|621094|621095|621096|621097|621099|621711|905884|915016|916831|916832|963250", + "text": "Nemaline myopathy" + }, + { + "baseId": "99689|99690|99691|99692|177632|192310|194050|194592|195109|195632|247081|254527|254529|254530|254531|254533|254534|254535|254540|254542|254543|254545|254548|254554|254555|254556|254558|254559|254562|254563|254566|267804|267844|268275|269225|271988|317256|317257|317259|317260|317264|317265|317266|317270|317272|317277|317278|324975|324976|324977|324987|324995|325000|325001|325004|325007|325014|325016|325017|325018|325020|325021|325022|325023|331093|331094|331121|331130|331131|331132|331136|331137|331156|331162|331165|331166|331169|331171|332678|332679|332683|332685|332690|332693|353246|373063|408664|503887|504176|504204|504206|504216|504453|504905|537882|537897|584158|585420|587799|769129|839947|869891|869892|869893|869894|869895|869896|869897|869898|869899|869900|869901|869902|869903|869904|869905|869906|872244|872245|872246|872247|872248|872249", + "text": "Type II Collagenopathies" + }, + { + "baseId": "99791|263249|263250|263276|263280|271861|360939|360955|439633|439634|439635|513964|514016|514074|514211|587369|679897|805140|970520", + "text": "Motor delay" + }, + { + "baseId": "99931|99932|190386|254709|267600|334234|713708|744914|769278|769279|840220|840221|851957|979290|979291|979292|979293", + "text": "Sanfilippo disease" + }, + { + "baseId": "100016|181451|196242|207089|367600|434634|490210|496932|513979|621017|621021|621023|621027|621031|621034|621035|621036", + "text": "Cerebellar vermis hypoplasia" + }, + { + "baseId": "100024|255320|312682|319125|323074|323075|332671|339678|341028|341056|353325", + "text": "Nemaline Myopathy, Dominant" + }, + { + "baseId": "100029|193523|243897|275222|798696|919614|963366", + "text": "Autosomal dominant medullary cystic kidney disease with hyperuricemia" + }, + { + "baseId": "100030|100031|100032|193523|195653|255481|275222|324592|334141|334154|340833|340835|340844|342226|342233|342239|342241|342244|354268", + "text": "Uromodulin-associated kidney disease" + }, + { + "baseId": "100165|100168|100175|100181|100182|100183|100185|100189|100190|100199|100201|100207|100212|100214|100216|100218|100222|100223|100225|100228|100229|100243|100245|100248|100253|100254|100261|100264|100269|102570|102574|102577|102580|133838|134392|150222|150223|177684|192759|192909|193183|195128|250783|250787|254126|265545|265920|266446|266936|267002|267681|267696|268176|268214|268748|268817|269053|269711|269978|270059|270711|272050|272648|272649|272867|273335|273377|273720|274494|274907|274982|275299|275308|287144|287148|287149|287157|287158|287164|287169|287171|287172|287173|287877|287896|287898|287899|287900|287903|287904|287906|287911|287912|290424|290428|290429|290430|290443|290454|290461|290463|290470|290471|290719|290721|290727|290728|290729|290742|290745|290746|290750|290759|290760|290761|290765|290767|313659|313661|313662|313663|313667|313669|313673|313674|313675|313679|313680|313681|313682|313686|313691|313693|313701|313702|313704|313705|313706|313708|313709|313712|313717|313720|313725|319863|319873|319874|319881|319882|319884|319886|319893|319898|319903|319906|319907|319915|319916|319925|319928|319930|319943|326019|326020|326023|326024|326025|326029|326031|326041|326051|326053|326059|326076|326101|326107|326108|326111|326137|326138|326139|326145|326995|326997|327003|327005|327012|327013|327018|327021|327039|327040|327044|327045|327047|327048|327050|327051|327052|327053", + "text": "Miyoshi myopathy" + }, + { + "baseId": "100286|165724|165725|166077|166077|166081|460453|524875|525106|569426|590287|623302|650386|650387|695464|798624|818274|818275|836511|836512|836512|852537|903495|964337", + "text": "Focal segmental glomerulosclerosis 7" + }, + { + "baseId": "100811|134271|172217|190060|190061|190062|190063|190064|191040|269203|272656|272923|273883|274174|404758|443198|450899|538966", + "text": "Dystonia 27" + }, + { + "baseId": "101043|101044|101046|177186|194925|195676|249330|249354|249356|249357|270290|270940|272601|275429|275796|275797|275819|275820|275821|275964|275965|275967|489050|489534|489575|492777|549497|556544|584868|586522|586745|587044|626566|626567|706529|718051|745517|745519|761036|778712|780254|822466|822467|822468|822469|822470|822471|822472|850704|921560|929932|929933|929934|929935|941349|941350|941351|941352|941353|941354|952001|959516", + "text": "Peroxisome biogenesis disorder, complementation group K" + }, + { + "baseId": "101181|191188|193572|266783|268688|270409|308311|308317|308318|308319|308320|308328|308329|308332|308334|312724|312726|312735|312736|312737|312743|312744|312747|312748|312751|312752|312765|312768|312769|312771|312787|312793|312794|318605|318606|318613|318614|318616|318617|318619|318620|318627|318628|318635|318636|318637|318638|318640|318641|319156|319158|319161|319171|319172|319173|319182|319195|319201|319202|319203|319204", + "text": "Inclusion Body Myopathy, Recessive" + }, + { + "baseId": "101204|263210|263217|360963|360964|590035|590040|590044|590055|612447|905820", + "text": "19 conditions" + }, + { + "baseId": "101204|437667|792127", + "text": "Mental retardation with panhypopituitarism, X-linked" + }, + { + "baseId": "101232|292712|297538|297540|297567|300173|300992|301008|303928|303952|303985|307361|307363|307369|307578|308615|308639|308641|308646|308648|308651|308668|329461|329474|329481|329484|329497|329498|329516|333272|333926|333959|339755|339757|339759|339770|339774|339778|339780|339785|339795|343356|343374|343375|343885|343913|345498|345511|345513|345518|345519|345527|345535|345536|345545|345573|346830|346833|346837|346840|346841|346847|346878|348650|349196|349200|349209|350128|353493", + "text": "Cone-Rod Dystrophy, Dominant" + }, + { + "baseId": "101232|292712|297538|297540|297567", + "text": "Retinal Macular Dystrophy" + }, + { + "baseId": "101232|292712|297538|297540|297567|301143|308921|308926|308942|308943|308956|309014|309044", + "text": "Stargardt Disease, Dominant" + }, + { + "baseId": "101263|101264|102224|168817|168819|170137|207262|297423|297429|297448|297455|297457|299525|303646|303998|309448|314216|314227|320076|339452|339473|339498|348988|352348|352358|352359|352368|352374|352919|353110|353111|615936|683141|683142|792685|961512", + "text": "De Lange syndrome" + }, + { + "baseId": "101291|301212|308978|456454|481266|481267|481268|502112|561128|635323|695332|750270|765900|832596", + "text": "Congenital disorder of glycosylation type 2F" + }, + { + "baseId": "101414|131818|192025|311812|311814|314617|314618|314620|316267|316270|316274|316275|316277|316303|317377|317378|317417|317421|321290|323463|323625|323707|324085|329769|329777|329787|329793|329835|330592|331039|331041|331097|340848|340854|353213", + "text": "Cutis laxa, recessive" + }, + { + "baseId": "101454|101455|101457|101459|101460|101464|101471|101472|101474|101475|134251|134252|134254|134256|140519|140520|140521|140527|140540|140542|176985|177621|191693|195720|202039|202060|202064|202065|202105|252644|286725|286739|286748|286755|286772|286807|286813|286817|286819|287439|287493|287553|287555|287556|287564|287565|289874|289875|289957|289960|290273|290286|290287|290288|290302|290304|290307|290313|290336|290361|290379|290380|302099|302105|302106|302110|302112|302118|302119|302122|302123|302124|302130|302131|302133|302136|302144|302146|302147|302148|302152|302154|302155|302156|302168|302169|302173|305257|305261|305271|305274|305278|305281|305282|305283|305285|305290|305292|305293|305303|305305|305306|305307|305311|305313|305314|305315|305317|305319|305326|305334|305335|305338|305341|305343|305344|305345|305348|305356|305357|310046|310047|310048|310049|310051|310056|310069|310070|310071|310076|310077|310081|310100|310101|310103|310110|310111|310112|310114|310116|310117|310118|310119|310122|310123|310126|310127|310129|310131|310132|310133|310134|310142|310143|310147|310148|310155|310159|310170|310177|310180|310183|310184|310185|310186|310187|310189|310196|310198|310200|310204|310205|310206|310207|310219|310237|310251|310257|310261|310265", + "text": "Pitt-Hopkins-like syndrome" + }, + { + "baseId": "101563|140118|195446|211373|211380|307148|308143|308151|308164|308165|311342|316839|316886|317274|318388|318389|318392|318394|318402|318863|318872", + "text": "Ataxia with Oculomotor Apraxia" + }, + { + "baseId": "101665|108165|209037|608807|608811|608812|961637", + "text": "Lenz microphthalmia syndrome" + }, + { + "baseId": "101673|305618|305623|305633|305676|308951|309529|309530|309550|309551|309564|309627|309713|314854|314860|314906|314911|314912|314916|314924|314940|314978|315029|353841|623774|626008|860727", + "text": "Hypogonadism with anosmia" + }, + { + "baseId": "101888|177144|181437|237188|319770|328301|328304|334782|336519|372822|372827|373841|426044|463273|485964|504270|527728|527763|566119|567579|641939|641940|688170|695598|702685|730919|769560|769561|784600|840886|840887|840888|840889|840890", + "text": "Shaheen syndrome" + }, + { + "baseId": "102029|172295", + "text": "Gillessen-Kaesbach-Nishimura syndrome" + }, + { + "baseId": "102281|177954|186714|193213|395418|634949|919037|919038|919039|983840", + "text": "Polycystic kidney disease 4" + }, + { + "baseId": "102570|102573|102574|102580|133838|133839|133840|150222|150223|150224|192166|192704|192867|194564|195068|230189|254117|254126|265545|266733|266734|267681|268176|269711|269789|270711|273335|313659|313661|313662|313663|313667|313673|313679|313680|313681|313682|313686|313691|313693|313701|313704|313705|313706|313708|313709|313712|313717|313720|313725|319873|319874|319881|319882|319884|319886|319893|319898|319903|319906|319907|319925|319928|319930|319943|326019|326020|326023|326024|326025|326029|326031|326041|326051|326059|326076|326101|326107|326108|326111|326137|326138|326139|326995|326997|327003|327005|327012|327021|327039|327040|327044|327045|327047|327048|327050|327051|327053|488826|490435|492080|493833|677235|867749|867750|867751|867752|867753|867754|867755|867756|867757|867758|867759|867760|867761|867762|867763|867764|867765|867766|867767|867768|867769|867770|867771|867772|867773|867774|867775|867776|867777|867778|867779|867780", + "text": "ANO5-Related Muscle Diseases" + }, + { + "baseId": "102582", + "text": "L-ferritin deficiency" + }, + { + "baseId": "102583", + "text": "L-ferritin deficiency, autosomal recessive" + }, + { + "baseId": "102585|447083|447197|447259|447260|447262|515055|515056|515105|556623|556625|556911|556913|558100|626766|626767|626768|626769|626770|626771|626772|626773|626774|626775|650580|706628|718155|718156|718157|731639|731640|731641|731643|745623|745624|761144|822654|822655|822656|822657|822658|822659|822660|822661|822662|822663|921619|921620|921621|930014|930015|930016|930017|939770|941426|941427|952044|952045|952046|960403", + "text": "Immunodeficiency 16" + }, + { + "baseId": "102595|141332|141334|141335|141336|141337|237492|237493|237494|237495|237496|237497|430044|962243|963178", + "text": "Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome" + }, + { + "baseId": "102600|492383|965960", + "text": "Fanconi renotubular syndrome 3" + }, + { + "baseId": "102607|102608|102609|102610|102611|181366|442548|481344|800961", + "text": "Long QT syndrome 15" + }, + { + "baseId": "102652", + "text": "Ectodermal dysplasia 7, hair/nail type" + }, + { + "baseId": "102879|102880|102881|102882|102883|102884", + "text": "X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2" + }, + { + "baseId": "102898", + "text": "Spastic paraplegia 72, autosomal dominant" + }, + { + "baseId": "102899|102900|454575|691722|698800|749234|792752|830230|830231|830232|830233", + "text": "Spastic paraplegia 72, autosomal recessive" + }, + { + "baseId": "102917|102918|513982|550863|624853|677280|793297|920259", + "text": "Deafness, autosomal dominant 56" + }, + { + "baseId": "102927|102927|102929|102936|102937|205136|246920|359473|366339|366340|366531|366534|366536|366600|366603|366606|366608|367176|367190|405713|440069|443233|443235|443236|450794|450802|450997|451000|499897|500106|500142|511418|518154|518157|560567|560569|560571|561269|629787|629788|629789|629790|629791|629792|655441|691121|691122|695141|695142|697522|697523|697524|697525|697526|697527|697528|697529|697530|719823|719824|733424|733426|747563|747565|777266|779036|795220|805306|819150|826184|826185|826186|826187|826188|826189|826190|826191|826192|826193|826194|826195|826196|826197|826198|826199|826200|826201|826202|826203|826204|826205|826206|826207|826208|826209|826210|826211|826212|826213|826214|826215|826216|826217|826218|826219|826220|826221|826222|826223|826224|826225|826226|826227|851418|856168|905051|922689|922690|922691|931288|931289|931290|931291|931292|931293|931294|931295|931296|931297|931298|931299|931300|931301|931302|931303|931304|931305|931306|931307|931308|931309|931310|931311|931312|931313|931314|931315|931316|931317|931318|942792|942793|942794|942795|942796|942797|942798|942799|942800|942801|942802|942803|942804|942805|942806|942807|942808|942809|942810|942811|942812|953034|953035|953036|953037|953038|953039|953040|953041|953042|953043|953044|953045|959635|960470|960471|960472|963355|983852", + "text": "Short-rib thoracic dysplasia 10 with or without polydactyly" + }, + { + "baseId": "102927|102937|189171|189172|189173|189174|189175|246920|359473|366339|366340|366531|366534|366536|366600|366603|366606|366608|367176|367190|405713|440069|443233|443235|443236|450794|450802|450997|451000|499897|500106|500142|511418|518154|518157|560567|560569|560571|561269|629787|629788|629789|629790|629791|629792|655441|691121|691122|695141|695142|697522|697523|697524|697525|697526|697527|697528|697529|697530|719823|719824|733424|733426|747563|747565|777266|779036|795220|805306|819150|826184|826185|826186|826187|826188|826189|826190|826191|826192|826193|826194|826195|826196|826197|826198|826199|826200|826201|826202|826203|826204|826205|826206|826207|826208|826209|826210|826211|826212|826213|826214|826215|826216|826217|826218|826219|826220|826221|826222|826223|826224|826225|826226|826227|851418|856168|905051|905051|922689|922690|922691|931288|931289|931290|931291|931292|931293|931294|931295|931296|931297|931298|931299|931300|931301|931302|931303|931304|931305|931306|931307|931308|931309|931310|931311|931312|931313|931314|931315|931316|931317|931318|942792|942793|942794|942795|942796|942797|942798|942799|942800|942801|942802|942803|942804|942805|942806|942807|942808|942809|942810|942811|942812|953034|953035|953036|953037|953038|953039|953040|953041|953042|953043|953044|953045|959635|960470|960471|960472", + "text": "Retinitis pigmentosa 71" + }, + { + "baseId": "102928|102930|102931|102932|102933|102935|102937", + "text": "Short-rib thoracic dysplasia 10 without polydactyly" + }, + { + "baseId": "102934|102938", + "text": "Short-rib thoracic dysplasia 10 with polydactyly" + }, + { + "baseId": "102939|102940|102941|421690|788831|790826|919180", + "text": "Lenz-Majewski hyperostosis syndrome" + }, + { + "baseId": "102942|102943|102944|102945|102946|102947|102948|102949|102950|458405|458859|458868|458909|458911|458913|459395|459404|502690|524062|562828|563533|565332|565334|637768|692585|692586|695418|700812|700813|700814|711773|744351|751422|835550|835551|835552|835553|857649|934563|934564|955701|955702", + "text": "Short-rib thoracic dysplasia 11 with or without polydactyly" + }, + { + "baseId": "102955|513805|513806|513807", + "text": "Joubert syndrome with Jeune asphyxiating thoracic dystrophy" + }, + { + "baseId": "102956|102957", + "text": "Short-rib thoracic dysplasia without polydactyly" + }, + { + "baseId": "102959|102960|679888|679889|679890|679891", + "text": "Congenital dyserythropoietic anemia type type 1B" + }, + { + "baseId": "102963|102964|102965|102966|102967|102968|107270|107271|107272|107273|264568|373396|373397|373402|374053|374061|374064|374073|374483|374484|374485|376395|414412|414413|414414|414415|414416|414417|414418|414419|414420|414421|414422|414423|414424|414425|414426|433134|504732|504962|504974|505221|505227|505623|726022|799789|799790|799791|799792|799793|799794|799795|799796|801141|801142|801143|801144|801145|801146|801147|801148|801149|801150|801151|801152|801153|801154|801155|801248|801249|981893|981894|981895|981896|981897|981898|981899|981900|981901", + "text": "Pulmonary venoocclusive disease 2, autosomal recessive" + }, + { + "baseId": "102969|371518|372272|461218|461234|461236|461242|461430|461436|461440|461754|461757|461759|461762|462078|526286|526290|526297|526299|526331|526344|526347|526521|526523|526525|526530|526533|526535|526813|526818|526821|526827|564781|565926|565933|565934|567378|567379|567381|570734|570736|570741|570747|570748|570754|570760|640211|640212|640213|640214|640215|640216|640217|640218|640219|640220|640221|640222|640223|640224|652130|652333|652551|687805|693068|695530|695532|768521|768522|777921|796614|820392|820393|820394|838651|838652|838653|838654|838655|838656|838657|838658|838659|838660|838661|838662|838663|838664|838665|838666|838667|851443|921269|926301|926302|926303|926304|926305|926306|935644|935645|935646|935647|941003|947544|947545|947546|947547|956556|956557|956558|959998|959999|960000", + "text": "Hereditary sensory neuropathy type IF" + }, + { + "baseId": "103067|288925|446643|513939|514136|801217", + "text": "Hyperammonemia" + }, + { + "baseId": "103595|431539|514022|514142|590061", + "text": "Febrile seizures" + }, + { + "baseId": "103595", + "text": "Hepatosplenomegaly" + }, + { + "baseId": "103705", + "text": "Psoriasis" + }, + { + "baseId": "103972|104114|133431|360961|476220|679898|679899", + "text": "Dementia" + }, + { + "baseId": "104114|402131|514220", + "text": "Memory impairment" + }, + { + "baseId": "104456|676974|676975|676976|676977", + "text": "Night blindness, congenital stationary, type1i" + }, + { + "baseId": "104561|513994", + "text": "Abnormality of retinal pigmentation" + }, + { + "baseId": "104580", + "text": "Adult onset vitelliform dystrophy" + }, + { + "baseId": "105002|105199|438619", + "text": "Abnormal retinal morphology" + }, + { + "baseId": "105494|188910|188921|189101|406115|431799|967074", + "text": "Autosomal dominant retinitis pigmentosa" + }, + { + "baseId": "105565|105569|105571|105573|105575|190829|190830|314405|314406|314422|314440|314451|321046|321067|321070|327164|327176|327212|328209", + "text": "Iron Overload" + }, + { + "baseId": "105615", + "text": "BEST1-Related Disorders" + }, + { + "baseId": "106004", + "text": "leucovorin response - Toxicity/ADR" + }, + { + "baseId": "106207|361018|361019", + "text": "Prolonged bleeding time" + }, + { + "baseId": "106520|106521|125920|181448|208304|215521|227381|236971|237029|242507|242508|242509|242510|242511|242512|242512|242513|242514|242515|242516|242517|255881|255883|255884|255886|360300|361223|361223|361276|364067|374568|374571|374572|374578|374588|375442|375450|375456|375463|375464|375467|375477|375648|375652|375655|375669|375670|377779|377788|377798|377808|377812|384519|401330|401332|401340|401340|401341|401342|401343|401345|401349|401356|401358|401860|401861|401867|401868|401874|402122|402123|402125|409741|409744|415510|426181|426686|426686|426687|429847|429848|438018|445615|445617|445617|445618|445621|445622|445625|464847|465441|465453|465985|465991|465995|465999|466004|466008|466009|466017|466707|466711|466712|466714|466717|466718|466767|466770|466774|466783|466791|466996|466998|467000|505506|505767|505947|506504|529274|529276|530254|530256|530260|530270|530277|530280|530283|530291|530298|530356|530359|530552|530555|530561|530562|530770|530772|530773|536912|536912|536913|536914|567542|567543|567547|568339|568342|568346|568356|568358|568368|568371|569397|569399|569815|569817|570467|570470|570474|570477|570480|570481|570483|570483|570485|570491|570491|570544|570546|570551|570553|570555|574167|574168|574169|574170|574171|574172|574173|574174|577571|614429|644985|644986|644987|644988|644989|644990|644991|644992|644993|644994|644995|644996|644997|644998|644999|645000|645001|645002|645003|645004|645005|652481|652662|653150|653314|672099|677452|684627|684628|688658|688659|688661|690149|715087|771070|771071|776375|788071|792801|820877|820878|820879|820880|820881|820882|820883|820884|844334|844335|844336|844337|844338|844339|844340|844341|844342|844343|844344|844345|844346|844347|844348|844349|844350|844351|844352|844353|844354|844355|844356|844357|844358|844359|851681|852129|860286|927954|927955|927956|927957|927958|927959|927960|927961|937622|937623|937624|937625|937626|937627|949575|949576|949577|949578|949579|949580|949581|949582|949583|949584|949585|949586|949587|949588|957881|957882|957883|957884|957885|957886|960179", + "text": "Spinocerebellar ataxia, autosomal recessive 12" + }, + { + "baseId": "106528|106529|165532|178621|178622|221983|221984|221985|224395|227338|240821|240823|240824|240825|240826|240827|240828|240829|240830|240831|240832|397324|397334|397345|397346|397352|397353|397354|397363|397368|397373|397536|397545|397546|397551|397553|397554|397556|397559|397757|397759|397761|397763|397777|397779|397780|397790|397794|397868|397881|397888|397902|459540|459797|459799|460028|460030|460033|460036|460037|460040|460041|460052|460166|460168|460172|460176|460178|460180|460449|460451|460452|460458|460459|460461|460463|460913|460924|525103|525252|525255|525265|525266|525277|525418|525514|525515|525516|525727|525729|563503|563850|563856|563858|563863|563866|563868|563870|564422|564667|564674|564680|566392|569405|569732|569733|639051|639052|639053|639054|639055|639056|639057|639058|639059|639060|639061|639062|651970|651999|652003|652004|652115|652257|652320|652324|684187|684188|684189|684190|684191|684192|684193|687659|689984|724009|724010|775683|783659|790970|820226|820227|820228|820229|820230|837075|837076|837077|837078|837079|837080|837081|837082|837083|837084|837085|837086|837087|837088|837089|837090|837091|837092|837093|837094|837095|837096|837097|852263|858454|925884|925885|925886|925887|935123|935124|935125|935126|940962|946988|946989|946990|946991|946992|946993|946994|946995|956133|956134|956135|956136|959938|959939", + "text": "Arrhythmogenic right ventricular dysplasia, familial, 13" + }, + { + "baseId": "106531|106532|106533|626122|626123", + "text": "Ataxia, spastic, 3, autosomal recessive" + }, + { + "baseId": "106534|106535|375921|375926|376057|378200|409937|434661|468094|506320|506339|506351|506352|531269|569055|590637|645906|645907|645908|645909|645910|645911|652779|678073|678082|694086|704147|704148|715463|821043|845348|845349|845350|845351|937936|958113", + "text": "Neurodegeneration with brain iron accumulation 6" + }, + { + "baseId": "106538|106539|106540|106541|106542|106543|106544|106545|106546|106547|106548|214260|214261|214262|214263|214264|214265|214266|214267|214268|214269|359715|369545|369549|369551|370000|370018|370019|370327|370329|371952|407442|428857|428858|428859|432214|432215|439323|444301|457944|457945|458518|502504|502770|523686|523696|524001|524279|562486|562489|563043|564549|568053|568054|568055|568062|637369|637370|637371|655865|655866|655867|692520|692521|692522|700630|700631|711607|736742|751235|766880|777954|792679|801849|819974|819975|819976|819977|834985|834986|834987|834988|834989|834990|834991|834992|834993|834994|834995|834996|834997|834998|834999|835000|835001|835002|835003|835004|835005|835006|835007|835008|835009|835010|835011|835012|835013|835014|835015|835016|835017|835018|835019|835020|835021|852148|852150|852152|906393|925253|934400|934401|934402|934403|934404|934405|934406|934407|934408|934409|934410|934411|940112|946159|946160|946161|946162|946163|946164|946165|946166|946167|946168|946169|946170|946171|955488|955489|955490|955491|955492|955493|955494|959900|960657|970886", + "text": "Joubert syndrome 21" + }, + { + "baseId": "106549|106550|135986|136991|203228|203241|203242|237618|578528|614419|615945|965354", + "text": "Deafness, autosomal recessive 86" + }, + { + "baseId": "106551|106552|247172|264742|430244|430248|430250|430252|438117|468914|470351|470353|471044|491078|491080|496111|533174|574996|574997|611905|623589|626279|716561|728297|728298|757142|776893|778641|791940|847783|852876|929000|929001|938738|938739|950830|960294", + "text": "Mental retardation, autosomal recessive 41" + }, + { + "baseId": "106639|439358|517758|581741|695118|697385|906232", + "text": "Joubert syndrome 22" + }, + { + "baseId": "106640|106641|106642|106643|106644|964531", + "text": "Warburg micro syndrome 4" + }, + { + "baseId": "106646|247524|247525|247526|247527|247528|486778|581227|614497|798777|816009|964564|964737|971169|971603|976675|976702", + "text": "Mental retardation 49, X-linked" + }, + { + "baseId": "106647|190048|190049|247183|260237|264765|264912|377153|377155|377157|377169|377171|377179|377181|378228|378254|378258|378260|378267|378279|378297|378298|378309|378316|378321|378325|378439|378442|379758|379762|410838|410839|446299|446299|446300|469447|469452|470502|471008|471009|471473|471475|471477|507316|507320|507897|508279|508281|533641|533649|533694|533699|533984|534214|534216|571380|571387|571391|571393|572971|573625|573627|580570|580686|611435|614477|648796|648797|648798|648799|648800|648801|694596|705614|705615|705616|773200|773203|773205|788252|792002|818438|821344|848550|848551|848552|848553|848554|851853|858304|929254|929255|939038|939039|939040|939041|939042|951152|951153|951154|951155|958871|958872|958873|963920|971153", + "text": "Epileptic encephalopathy, early infantile, 33" + }, + { + "baseId": "106647|190049|264912|360502|446299|533694|818436|818437|818438", + "text": "EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy" + }, + { + "baseId": "106650|519725|624843|624844", + "text": "Cerebellar atrophy with seizures and variable developmental delay" + }, + { + "baseId": "106766|106767|106768|106769|106770|362382|460530|460534|460541|524923|525139|525288|525463|564486|566137|566140|566145|569470|638709|638710|638711|638712|652245|692769|712134|737322|798918|836600|836601|836602|836603|925735|925736|934943|946808", + "text": "Spastic paraplegia 45, autosomal recessive" + }, + { + "baseId": "106799|106800|106801|106802|106803|153652|205685|205686|274206|360505|553100|553104|622695|622696|622697|906039|919944|920424", + "text": "Schwannomatosis 2" + }, + { + "baseId": "106803|195650|243638|243639|274206|337612|337623|347191|351203|403784|404300|404323|404331|905964", + "text": "Schwannomatosis" + }, + { + "baseId": "106804|106805|106806|106807|153654|166309|166310|243566|538490", + "text": "Ataxia-hypogonadism-choroidal dystrophy syndrome" + }, + { + "baseId": "106810|106811|259938|424657|424658|904756", + "text": "Myopathy with extrapyramidal signs" + }, + { + "baseId": "106815|204348|226724|226725|226726|226727|238106|361523|442109|442138|442159|442168|536981|682833", + "text": "Lateral meningocele syndrome" + }, + { + "baseId": "106818|106819", + "text": "Essential pentosuria" + }, + { + "baseId": "106822|106823|106824|106825|106826|106827|106828|106829|106830", + "text": "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome" + }, + { + "baseId": "106836|206698|206699|427611|446977|446979|447032|447035|447040|514964|514980|556546|556579|556972|626568|626569|626570|690323|690324|690328|690329|690331|690332|690333|694998|731561|822491|822492|921562|921563|929947|929948|941364|941365|952008", + "text": "Spastic paraplegia 63, autosomal recessive" + }, + { + "baseId": "106837|106838|360923|461176|461178|525820|525822|525970|538416|552356|626199|639330|639331|692904|692905|692906|692907|791018|791019|837528|837529|837530|837531|947161|956291", + "text": "Spastic paraplegia 64, autosomal recessive" + }, + { + "baseId": "106840|465134|465810|530071|567469|569576|652512|693800|693801|703534|820775|927581|937254", + "text": "Spastic paraplegia 61, autosomal recessive" + }, + { + "baseId": "106842|136319|224698|224699|224700|224701|224702|427971|427973|427974|427977|427978|427980|450174|450176|450349|450371|450374|450375|482304|495391|517481|517599|517766|538959|557804|559514|559516|629252|629253|629254|629255|677412|690995|690996|690998|690999|691000|691001|691002|695113|695114|695115|697227|759083|762757|790145|790146|825535|825536|825537|903514|922502|922503|970731|970732", + "text": "Mental retardation, autosomal recessive 42" + }, + { + "baseId": "107055|514019", + "text": "Connective tissue nevi" + }, + { + "baseId": "107137", + "text": "COL3A1-Related Disorder" + }, + { + "baseId": "107245|514122|535051|574322", + "text": "Retinitis pigmentosa 23" + }, + { + "baseId": "107246|107247|107248|107249", + "text": "Richieri Costa-Pereira syndrome" + }, + { + "baseId": "108167|971170", + "text": "Deafness, X-linked 6" + }, + { + "baseId": "108185", + "text": "Congenital disorder of glycosylation type 1w" + }, + { + "baseId": "108187|167509|457850|458503|458505|458506|458914|458915|523888|523894|524145|524152|524157|524164|524168|524170|524171|524183|538400|538401|562418|565120|565125|565127|565133|567925|622392|637203|637204|637205|637206|637207|637208|637209|637210|637211|637212|637213|637214|637215|637216|651787|651799|651896|700592|711537|711539|723106|730576|736671|736673|736674|744493|751163|751164|751165|751166|751167|751168|783110|790802|834757|834758|834759|834760|834761|834762|834763|834764|834765|834766|852138|925202|925203|934311|934312|934313|934314|934315|934316|946069|946070|946071|946072|946073|946074|955413|955414|959893|959894", + "text": "Immunodeficiency 15" + }, + { + "baseId": "108188|108189|108190|167428", + "text": "Palmoplantar keratoderma, nagashima type" + }, + { + "baseId": "108191|367105|367355|367367|367369|500186|500433|500436|513534|576105|631167|631168|691371|720400|734020|744058|827894|953430", + "text": "Congenital disorder of glycosylation type 1x" + }, + { + "baseId": "108192|538388", + "text": "Combined oxidative phosphorylation deficiency 19" + }, + { + "baseId": "108807|108810|108820|171256|171256|389522|405724|450891|451002|451185|451188|518198|518199|518201|518203|518205|518206|518208|518213|518218|518256|518323|518327|518328|538349|558083|558085|558087|558089|558452|558454|558456|560629|561506|561507|561520|561522|561525|561526|561528|629967|629968|629969|629970|629971|629972|629973|629974|629975|629976|629977|629978|629979|629980|629981|629982|629983|629984|629985|629986|629987|629988|629989|629990|629991|629992|708244|708245|719852|719853|719854|719855|733451|733453|743937|747604|747605|747607|747608|763200|763202|763203|763205|763207|774839|781316|781319|819018|819168|826439|826440|826441|826442|826443|826444|826445|826446|826447|826448|826449|826450|826451|826452|826453|826454|826455|826456|826457|826458|826459|826460|826461|826462|826463|826464|922759|922760|922761|922762|922763|922764|931395|931396|931397|931398|931399|931400|931401|942907|942908|942909|942910|942911|942912|942913|942914|942915|953087|953088", + "text": "Familial cold autoinflammatory syndrome 4" + }, + { + "baseId": "108807|108810|108820|152952|166229|171256|361176|389522|405724|450891|451002|451185|451188|518198|518199|518201|518203|518205|518206|518208|518213|518218|518256|518323|518327|518328|538349|558083|558085|558087|558089|558452|558454|558456|560629|561506|561507|561520|561522|561525|561526|561528|629967|629968|629969|629970|629971|629972|629973|629974|629975|629976|629977|629978|629979|629980|629981|629982|629983|629984|629985|629986|629987|629988|629989|629990|629991|629992|708244|708245|719852|719853|719854|719855|733451|733453|743937|747604|747605|747607|747608|763200|763202|763203|763205|763207|774839|781316|781319|819018|819168|826439|826440|826441|826442|826443|826444|826445|826446|826447|826448|826449|826450|826451|826452|826453|826454|826455|826456|826457|826458|826459|826460|826461|826462|826463|826464|922759|922760|922761|922762|922763|922764|931395|931396|931397|931398|931399|931400|931401|942907|942908|942909|942910|942911|942912|942913|942914|942915|953087|953088|977190", + "text": "Autoinflammation with infantile enterocolitis" + }, + { + "baseId": "125776", + "text": "Coronary heart disease 2" + }, + { + "baseId": "125778", + "text": "Alzheimer disease familial 3, with spastic paraparesis" + }, + { + "baseId": "125779|227803|227805|362510", + "text": "efavirenz response - Metabolism/PK" + }, + { + "baseId": "125790|125791|264545|361846|788885|903601|972794", + "text": "Mental retardation, autosomal recessive 27" + }, + { + "baseId": "125797|214840|247162|411594|411595|411596|446084|469650|470046|470056|470631|481411|532887|533299|533300|539088|570679|572352|572354|572360|573033|573039|574939|647943|647944|647945|647946|647947|647948|653159|694378|694379|694382|694383|694385|694390|694391|694392|704920|704922|704924|728109|772587|786138|797786|958599|964889|964890", + "text": "Spastic paraplegia 75, autosomal recessive" + }, + { + "baseId": "125798", + "text": "Morbid obesity and spermatogenic failure" + }, + { + "baseId": "125809|125810", + "text": "Auriculocondylar syndrome 3" + }, + { + "baseId": "125811|125812|583099", + "text": "Question mark ears, isolated" + }, + { + "baseId": "125813|243979|243980|538976", + "text": "Spinocerebellar ataxia, autosomal recessive 15" + }, + { + "baseId": "125814|125815|125816|260667|260668|260669", + "text": "Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis" + }, + { + "baseId": "125818", + "text": "Alzheimer disease 19" + }, + { + "baseId": "125820|125821|125822|125823|125824|125825|125826|125827|125828|125829|125830|125831|125832|125833|125834|125835|125836|125837|125838|125839|136532|136533|136534|136535|136536|136537|136538|136539", + "text": "Hypotension" + }, + { + "baseId": "125893|125894|125895|125896|125897|125898|125899|125900|125901|187231|361950|361951|361952|410908|424224|469882|470901|470902|471318|471794|513147|534040|534044|534047|534048|534049|534050|534051|534052|534054|534145|534147|534148|534594|534601|534602|571688|571696|573197|573247|573248|573253|573258|573261|573261|573916|573943|578008|613422|649163|649164|649165|649166|649167|649168|649169|649170|649171|649172|649173|649174|649175|649176|649177|653187|653220|717282|717283|728999|729000|729001|742730|786543|789391|849008|849009|849010|849011|849012|849013|849014|849015|849016|849017|849018|849019|849020|849021|849022|853013|929393|929394|929395|939180|939181|939182|939183|939184|939185|939186|941270|941271|951310|951311|951312|951313|951314|951315|951316|951317|951318|951319|951320|951321|961988|961989", + "text": "Polyarteritis nodosa, childhoood-onset" + }, + { + "baseId": "125920|178425|178426|178427|178428|178429|178430|181448|242512|265448|361000|361001|401340|426686|445617|486154|486667|536912|570483|570491|613979|613980|614124|614429|622914|677452|792801|801578|802014|860287|904200|919677|919678|920363|964457|966172", + "text": "Epileptic encephalopathy, early infantile, 28" + }, + { + "baseId": "125922|791022|919312|970927|976011", + "text": "Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation" + }, + { + "baseId": "130975|130977|130978|226421|226422|226423|226424|226425|226426|226427|226428|226429|488160|513209|513643|538466|590083|788909|970529", + "text": "Hyperphosphatasia with mental retardation syndrome 4" + }, + { + "baseId": "130979|133699", + "text": "Mitochondrial complex 4 deficiency, nuclear type 12" + }, + { + "baseId": "130980|130984|354177|360301|375541|679693|976730|976731|976732|976733", + "text": "Foveal hypoplasia 2" + }, + { + "baseId": "130980|679693|800923|800924|800925", + "text": "Foveal hypoplasia" + }, + { + "baseId": "130981|130982", + "text": "FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS" + }, + { + "baseId": "130983", + "text": "FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING" + }, + { + "baseId": "130985|130986", + "text": "Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis" + }, + { + "baseId": "130987|130988|407794|790933|802171", + "text": "Bone marrow failure syndrome 2" + }, + { + "baseId": "131565", + "text": "Microprolactinoma" + }, + { + "baseId": "131815|131817|131818|131819|131820|131821|131823|131824|131826|131827|195422|195423|195754|207940|207940|207941|214315|214317|214753|214754|254446|254450|316256|316266|316267|316270|316272|316273|316274|323604|323608|323609|323618|323621|323623|323629|329742|329750|329751|329753|329759|329767|329768|329769|331021|331022|331024|331025|331028|331039|353213|684311|869457|869458|869459|869460|869461|869462|869463|869464|869465|869466|869467|869468|869469|869470|869471|869472|869473|869474|869475|869476|869477|869478|869479|872201|872202|872203|872204", + "text": "Joubert syndrome 24" + }, + { + "baseId": "131847|131854|131863|131864|131882|131884", + "text": "Coffin Siris/Intellectual Disability" + }, + { + "baseId": "131912|539026|906285", + "text": "Bardet-Biedl syndrome 18" + }, + { + "baseId": "131927|440822|519372|563013|563020", + "text": "Chilblain lupus erythematosus" + }, + { + "baseId": "131928", + "text": "ADAR-Related Disorders" + }, + { + "baseId": "131960|226766|360884|423236|679896|857382", + "text": "Premature ovarian failure 8" + }, + { + "baseId": "131961|131962|131963|131964|552292|983926", + "text": "Premature ovarian failure 9" + }, + { + "baseId": "131974|131975|131976|131977|578413", + "text": "Retinitis pigmentosa 68" + }, + { + "baseId": "131982", + "text": "Sea-blue histiocyte syndrome" + }, + { + "baseId": "132016", + "text": "repeat number of microsatellite" + }, + { + "baseId": "132017|132018|132019|132020|213562|215770|215771|362143|404770|432229|432230|443836|511613|535702|550358|550359|612714|653870|653871|788787|801989|815960|815984|916962|918983|918984|920215|964264|964265|964823|973096|976651", + "text": "Bosch-Boonstra-Schaaf optic atrophy syndrome" + }, + { + "baseId": "132026|790790", + "text": "Renal hypodysplasia/aplasia 2" + }, + { + "baseId": "132046|132047|132048", + "text": "Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities" + }, + { + "baseId": "132051", + "text": "Palmoplantar keratoderma, nonepidermolytic, focal or diffuse" + }, + { + "baseId": "132052|132053|132054|132055|132056", + "text": "Dowling-degos disease 4" + }, + { + "baseId": "132074", + "text": "Sacral agenesis with vertebral anomalies" + }, + { + "baseId": "132091|133192|137764|137766|137769|152479|183392|260102|337250|360833|361023|430996|434681|575761|575762|575764|575765|575766|575767|575768|575769|575770|575771|575772|575773|575774|575775|575776|575777|575778|575779|575780", + "text": "Hereditary cancer" + }, + { + "baseId": "132103|132104|132133|132167|132191|132191|132204|132225|132237|132239|132250|132251|132267|133574|133576|133581|133585|133593|133601|133601|150777|151423|151688|152122|153698|180742|180754|184239|186220|186222|213153|235267|235276|242362|389266|389282|389283|401785|409517|409519|466178|477493|477581|478191|569950|967155|967208", + "text": "Pancreatic cancer 3" + }, + { + "baseId": "132236|243618|432417|622843", + "text": "Anaplastic ependymoma" + }, + { + "baseId": "132360|238133", + "text": "Atrial standstill 2" + }, + { + "baseId": "132377|132378|132379|132380|132381|132382|132383|132384|132385|132386|132387|132388|132389|132390|132391|132392|132393|132394|132395|132396|132397|132398|132399|132400|132401|132402|243921|243922", + "text": "Calcium oxalate urolithiasis" + }, + { + "baseId": "132418", + "text": "Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked" + }, + { + "baseId": "132462|132466|136585|136586", + "text": "Pseudoexfoliation glaucoma" + }, + { + "baseId": "132580|360047|445221", + "text": "Lamellar ichthyosis" + }, + { + "baseId": "132582|132583", + "text": "Eculizumab, poor response to" + }, + { + "baseId": "132584|132585|132585|132586|201860|201865|214535|225873|243934|259818|389307|406687|614283|788774|798557|801988|858342|858517|918940|970132|980888", + "text": "Epileptic encephalopathy, early infantile, 19" + }, + { + "baseId": "132590|169294|360182|577560|976666", + "text": "Polymicrogyria, bilateral perisylvian, autosomal recessive" + }, + { + "baseId": "132597|132598|132599|375543|375557|375561|550055|550057|567550|568448|570611|715160|726873|801554|820899|820900|844452|844453|844454|844455|844456|927995|960182|961877", + "text": "Carbonic anhydrase VA deficiency, hyperammonemia due to" + }, + { + "baseId": "132603|132604|132605|550317|550318|550319|550320|970788", + "text": "Moyamoya disease 6 with achalasia" + }, + { + "baseId": "132609|132610|207399|213570|359747|369087|406855|511651|623289|788796|802162|964271|967268", + "text": "Cortical dysplasia, complex, with other brain malformations 5" + }, + { + "baseId": "132611|132612|132613|132614|132615|217224|217225|380441|424628|428233|431907|431908|443526|481310|511024|611386|611464|611599|653862|653863|653864|788768|798538|798539|800395|806434|806435|905858|918862|961602|963548|963549|963550|963551|963552|964742|980321|983861", + "text": "Mental retardation, autosomal dominant 23" + }, + { + "baseId": "132623|132624|132625|132626|239239|239241|361614|361615|367282|367651|393595|393614|393635|393638|393642|393643|393651|393652|393841|393847|393848|394043|394047|406334|414945|414946|440823|443487|443492|452488|452740|452744|452747|452750|452771|452773|452774|452776|452807|452810|452813|452815|452834|452837|453027|453040|519373|519378|519382|519384|519385|519386|519388|519390|519400|519403|519565|519567|519570|519575|519586|519607|519609|519611|519622|536649|559020|559022|559024|559026|559028|559030|559550|559552|559554|559556|559558|559560|559562|561642|561644|561646|561648|563026|563041|563046|563048|563053|563054|614266|622501|801799|816450|828257|828258|828259|828260|828261|828262|828263|828264|828265|828266|828267|828268|828269|828270|828271|828272|828273|828274|828275|828276|828277|828278|828279|828280|828281|828282|828283|828284|828285|828286|828287|828288|828289|828290|828291|828292|828293|828294|828295|828296|850948|850950|851394|923243|923244|923245|923246|923247|923248|923249|923250|923251|923252|923253|923254|923255|931996|931997|931998|931999|932000|932001|932002|939947|939948|940758|943599|943600|943601|943602|943603|943604|943605|943606|943607|943608|953516|953517|953518|953519|953520|953521|953522|965441|973019", + "text": "Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy" + }, + { + "baseId": "132633|447773|447781|447972|448104|515775|515788|515896|515897|557023|557252|557293|558475|627749|627750|627751|627752|627753|707348|718916|732390|761871|761872|761874|780671|787145|792716|823870|823871|823872|823873|823874|823875|823876|823877|823878|851297|930464|930465", + "text": "Immunodeficiency 22" + }, + { + "baseId": "132638", + "text": "Common variable immunodeficiency 11" + }, + { + "baseId": "132640|858770", + "text": "Atrial fibrillation, familial, 15" + }, + { + "baseId": "132641|132642|132643|132644|132645|132646|132647|132648|171813|208300|429838|429839|429840|512989|612194", + "text": "Spinocerebellar ataxia, autosomal recessive 16" + }, + { + "baseId": "132663|552604|636201|636202|636204", + "text": "Baraitser-Winter syndrome" + }, + { + "baseId": "132671", + "text": "Congenital neutropenia" + }, + { + "baseId": "132673|132674|132675|237527|432213|790608|798573|964827|965966", + "text": "Cortical dysplasia, complex, with other brain malformations 6" + }, + { + "baseId": "132683|676996|676997|676998|800944", + "text": "Oocyte maturation defect 1" + }, + { + "baseId": "132690|132691|132692|132693|132694|132695|415474|569572|610576|610577|610578|610579|965349", + "text": "Desbuquois dysplasia 2" + }, + { + "baseId": "132705|132706|223356|223357|613847|964812", + "text": "Short stature with microcephaly and distinctive facies" + }, + { + "baseId": "132722", + "text": "Fetal hemoglobin quantitative trait locus 5" + }, + { + "baseId": "132722|247743|247744|247745|247747|247748|414892|495129|511432|550587|614250|621020|621021|822304|961508|964204|964205|976647|980412", + "text": "Intellectual developmental disorder with persistence of fetal hemoglobin" + }, + { + "baseId": "132725|346275|626283|886665", + "text": "Cerebral amyloid angiopathy, APP-related" + }, + { + "baseId": "132920", + "text": "Malignant Glioma" + }, + { + "baseId": "132977|184734|453098|678053|678054|778476", + "text": "Ewing's sarcoma" + }, + { + "baseId": "132980|587562", + "text": "Osteoblastic osteosarcoma" + }, + { + "baseId": "133154|133499|399557|557265|611997|612009", + "text": "B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified" + }, + { + "baseId": "133167|151083|235612", + "text": "Acute monoblastic leukemia" + }, + { + "baseId": "133167|151083|235612", + "text": "Acute monocytic leukemia" + }, + { + "baseId": "133177|140203|151416|179958|181812", + "text": "Triple-Negative Breast Cancer Finding" + }, + { + "baseId": "133389|138836|138849|177907|193750|195485|215434|223603|223605|223606|223607|223608|223609|223610|223611|223612|223613|223614|223615|223616|223617|223618|223619|223620|223622|223623|223624|223625|223626|223628|223630|223631|223632|223634|223635|223636|223638|223640|223641|223642|223644|223645|223646|223647|223648|223649|223650|223652|223654|223655|223656|223657|254136|254993|273131|274286|313856|313857|313862|313863|313867|313872|313873|313874|313877|313885|313886|313888|313889|320061|320069|320071|320080|320084|320087|320102|320108|320111|320114|320134|320135|320138|320142|320143|320145|320146|320147|320163|320166|320167|320197|320198|320746|320750|320757|320760|320761|326222|326244|326245|326246|326248|326251|326252|326255|326256|326257|326258|326270|326272|326273|326276|326277|327197|327203|327206|327207|327214|327222|327223|327224|327241|327242|327259|327263|327273|327276|327282|327283|329585|329589|329597|329598|329623|329626|331967|336213|336214|336218|338110|338117|338126|347551|347555|347559|348927|431507|439068|464179|512941|568146|612908|642521|642522|652322|652873|693514|714179|791415|841561|841562|841563|841564|841565|867820|867821|867822|867823|867824|867825|867826|867827|867828|867829|867830|867831|867832|867833|867834|867835|867836|867837|867838|867839|867840|867841|867842|867843|867844|867845|867846|867847|867848|867849|867850|867851|867852|867853|867854|867855|867856|867857|867858|867859|871971|871972|871973|871974|871975|871976|871977|871978|871979|871980|871981|871982|927105|936641|936642|948590|948591|957240", + "text": "Anophthalmia-microphthalmia syndrome" + }, + { + "baseId": "133390|227046|227047|227048|227051|227052|227054|227055|227058|320697|329500|329501|329502|336096|336097|336106|336109|336135|338009|338016|338023|970271|970321", + "text": "Orofacial cleft" + }, + { + "baseId": "133391|133400|590610|609036|609079|677241|974932", + "text": "Oligodontia" + }, + { + "baseId": "133431|476220|801188", + "text": "Depressivity" + }, + { + "baseId": "133488|133495|478800|478922|478937", + "text": "Prostate cancer, hereditary, 9" + }, + { + "baseId": "133499", + "text": "Leiomyosarcoma" + }, + { + "baseId": "133499|470586|590073", + "text": "Inflammation of the large intestine" + }, + { + "baseId": "133499|470586|590073", + "text": "Hematochezia" + }, + { + "baseId": "133499|470586|590073|977163|977164|977313|977314|977316", + "text": "Colitis" + }, + { + "baseId": "133593|214804|214805", + "text": "Triple-negative breast cancer" + }, + { + "baseId": "133658|152476|467801", + "text": "Hereditary site-specific ovarian cancer syndrome" + }, + { + "baseId": "133667|150563", + "text": "RAD51C-Related Disorders" + }, + { + "baseId": "133687|133688|133689|133690|242183|242184|264906|401052|439469|465383|538448|538612|589805|643756|688520|754812|816481|842943|842944|842945|904258|927514|949120|957574", + "text": "Congenital heart defects, multiple types, 4" + }, + { + "baseId": "133696|133697|133698|801541", + "text": "Retinitis pigmentosa 69" + }, + { + "baseId": "133699|801126|801127", + "text": "Congenital lactic acidosis" + }, + { + "baseId": "133709|133710|427722", + "text": "Nemaline myopathy 3, autosomal dominant or recessive" + }, + { + "baseId": "133722|133724|140000|140002|140008|140290|140291|140292|140293|140296|140297|171737|171767|210625|210635|211434|211440|211441|211443|264339|264446|265652|279404|279416|279417|279418|279653|279654|279673|279677|279683|279702|279707|280918|280926|280931|280932|280933|280934|281064|281074|281076|281088|281089|281092|281094|281095|281105|290322|290351|294447|294852|294944|309183|309185|309188|309197|309201|309206|309208|309210|309213|309215|309219|309222|309226|309227|313903|313906|313908|313916|314804|319783|319784|319785|319786|319787|319794|319796|319797|319807|319812|319813|319819|319821|319822|320320|320327|320331|320332|320334|320336|321710|327636|328699|328731|330959|330996|337760|353096|371494|415211|502732|620340|620415|654425|865239|865240|865241|865242|865243|865244|865245|865246|865247|865248|865249|865250|865251|865252|865253|865254|865255|865256|865257|865258", + "text": "Autosomal recessive cerebellar ataxia" + }, + { + "baseId": "133723|139997|140001|140005|210635|210646|279405|279408|279409|279410|279414|279653|279657|279714|279715|280919|280920|280930|280933|280934|280935|280949|280950|280952|281067|281075|281087|281094|281096|281105|353096", + "text": "Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type" + }, + { + "baseId": "133851|465261|539061|919581|919582", + "text": "Stuttering, familial persistent 1" + }, + { + "baseId": "133912|133913|133916|133918|133918|133921|133923|133925|191276|206728|206730|249528|249529|277309|277326|277331|277511|277512|277520|277530|277544|277547|277550|277554|278381|278382|278390|278392|278393|278410|278413|278414|361791|361792|361793|361794|361795|364534|437799|447270|447277|447278|447279|447369|447410|447418|447421|447430|447466|447469|447471|447476|447484|492028|515262|515264|515265|515274|515276|515306|515315|515351|515352|515354|536569|537080|549502|556682|556684|556686|556688|556737|556739|556741|557034|557036|557038|558222|558224|558226|558228|558230|558232|558234|576078|576438|576441|578778|578784|578790|578793|578794|578803|578804|578811|584195|614196|614197|614198|614199|614200|627059|627060|627061|627062|627063|627064|627065|627066|627067|627068|627069|627070|627071|627072|627073|627074|627075|627076|650536|650592|690409|690412|690415|695016|695017|695019|696253|696254|696256|718381|729937|731862|794490|822980|822981|822982|822983|822984|822985|822986|822987|822988|822989|822990|822991|822992|851237|858872|861588|861603|862772|921739|921740|921741|930152|930153|930154|930155|941568|941569|941570|941571|941572|952138|952139|970664", + "text": "Spastic paraplegia 78, autosomal recessive" + }, + { + "baseId": "134067|153138|214797|248716|248717|248718|248720|248721|248722|248723|248725|248726", + "text": "Smith-Magenis Syndrome-like" + }, + { + "baseId": "134329|247629|247631|481312|481313|788839|802172|964839|964840|969252|973028", + "text": "Spinocerebellar ataxia, autosomal recessive 17" + }, + { + "baseId": "134370|134371|134374|134375|134376|134377|134378|134379|134380|134382|134383|134384|134385|134386|134387|134388|134389|134390|134391|134744|134745|134746|134747|134748|134749|134750|135818|135819|191403|191807|192104|192643|192971|194228|194619|195513|208055|208056|208057|208058|208060|208062|208063|208065|208080|208083|211852|241764|241769|241770|241772|241773|241774|241775|241776|244872|244875|244877|244885|269783|270736|271447|273633|273697|290468|290473|290676|290677|290678|290681|290682|290705|290713|290716|290717|290722|290723|290724|290730|290769|290777|290850|290852|290853|290857|290859|290864|290874|290876|290881|290883|290884|290898|290921|290929|290930|290935|291359|291366|291368|291370|291610|291612|291613|291614|291616|291631|291634|291637|291638|291659|291690|291804|291819|291822|291824|291825|291826|291829|291831|291842|291843|291844|291860|291861|291867|291869|294596|294788|294791|294792|294798|294804|294809|294834|294841|294849|294851|294858|294870|294881|294913|294987|294990|294996|294998|295004|295006|295010|295014|295017|295018|295019|295031|295035|295090|295092|295133|295134|295145|295146|295184|295194|295195|295201|295212|295213|295214|295216|295219|295220|295221|295244|295247|295250|295278|295360|295364|295365|295367|295387|295390|295391|295403|295440|295442|295444|295448|295449|295450|295452|295454|295458|295460|314745|314758|314765|314766|314768|314769|314773|314777|314784|314785|314786|314790|314793|314796|314797|314801|314803|314804|314810|314812|314814|318796|318797|318808|320125|320127|320129|320133|320136|320139|320141|320150|320151|320152|320153|320157|320169|320170|320171|320175|320177|320179|320180|320185|320188|320192|320194|321466|321471|321474|321475|321487|321496|321497|321499|321503|321514|321516|321517|321519|321524|321528|321543|321546|322533|327154|327155|327156|327175|327601|327602|327604|327605|327608|327615|327618|327627|327628|327630|327631|327633|327634|327636|327638|327641|327643|327644|327646|327648|327650|328661|328671|328674|328678|328687|328689|328693|328694|328698|328701|328702|328706|328711|328715|328719|328720|328722|328723|328724|328725|328727|328728|328729|328730|328731|328733|328735|328738|328742|328743|328745|331889|333294|333300|333302|334858|334880|334982|335003|335012|335014|335029|335329|335332|335333|335337|335339|335340|335347|335351|335352|335353|335354|335355|337184|337203|337208|337210|337211|337213|337220|337222|337241|337247|337249|340964|340967|344752|344754|347879|349344|349709|349717|349719|350354|350701|350714|353320|353476|353477|360956|372921|372953|373589|373596|373963|373973|375800|375814|375821|399527|440800|440809|440811|440812|440820|441640|463468|463518|463781|463784|494949|504329|504375|504609|504899|504900|504903|527926|528406|572635|576738|576742|576760|577345|656218|656223|667162|684426|688189|708880|720472|720473|734086|739119|748286|763917|776244|793015|793016|793021|822094|841049|871609|871610|871611|871612|871613|871614|871615|871616|871617|871618|871619|871620|871621|871622|871623|871624|871625|871626|871627|871628|871629|871630|871631|871632|871633|871634|871635|871636|871637|871638|871639|871640|871641|871642|871643|871644|872350|872351|872352|888973|888974|888975|888976|889096|889097|889098|889099|889100|889101|889117|889118|889119|889120|889121|889122|889123|889124|889143|889144|889177|889223|889224|889225|889226|889227|889228|889229|889230|889231|889232|889233|889234|889235|889236|889242|889243|889244|889245|889246|889247|889248|889249|889250|889251|889252|891654|891655|891656|891657|891658|891659|891660|891661|891662|891673", + "text": "Autosomal dominant cerebellar ataxia" + }, + { + "baseId": "134459|134460|134461|134462|134463|134464|134465|134466|187995|188003|188007|191753|193374|237323|247041|271456|310384|310391|310392|310405|310413|310414|310463|315483|315490|315526|315555|321491|321510|321549|321588|322273|322279|322288|322302|322309|322331", + "text": "COFS syndrome" + }, + { + "baseId": "134655|134656|134657|134658|134659|440927|614542|806437|973086", + "text": "Spinocerebellar ataxia, autosomal recessive 13" + }, + { + "baseId": "134685|206704|253897|276016|276066|276120|276123|276126|276148|276158|276161|276168|276342|276343|306342|306348|317077|317092|323092|323668|323700|335448|335486|335509|335512|335513|335524|345258|345295|345298|349979|349993|350002|350003|350004|351012|351014|351015|351017|351019|351023", + "text": "Hyperinsulinism, Dominant" + }, + { + "baseId": "134822|134823|186088|192927|212626|221753|273689|304117|304124|307707|307719|307730|307735|307738|312746|312877|312886|361439|369691|371499|395886|396284|425775|457807|457808|486611|489373|522984|567360|636578|683972|683974|683975|683976|685233|685234|685236|687181|687182|692345|722840|782989|796116|819944|834108|834109|834110|834111|834112|834113|925008|925009|925010|925011|934087|934088|945849|955287", + "text": "Ritscher-Schinzel syndrome" + }, + { + "baseId": "134861|417075|417076|417077", + "text": "Scoliosis, isolated, susceptibility to, 1" + }, + { + "baseId": "135260|204050|204058|204060|205063|205064|205065|205066|225830|225859|227709|227710|265017|361243|362167|362168|362169|411341|411343|422478|431935|431936|446655|495899|512673|513483|535712|538512|550376|550377|611947|621036|622493|625834|653902|653903|653904|654144|677469|682836|792450|792451|792452|798813|798814|861019|861021|861022|861023|920023|920024|920025|963971|963972|963973|964609|964610|964611|964902|966025|975877|976686|977374|980557", + "text": "Mental retardation, X-linked 102" + }, + { + "baseId": "135345|135347|135348|135349|135350|135354|135355|135356|135358|135360|135363|257446|315309|315310|322157|322158|329503|329528|329543|329552|336425|336432|336446|336457|336462|346145|346164|346165|346167|346171|346174|350463|350466|350478|350481|351516|351519|351522|351533|351538|351539|353587", + "text": "Early Infantile Epileptic Encephalopathy, Autosomal Recessive" + }, + { + "baseId": "135440|236995|237246", + "text": "EEG abnormality" + }, + { + "baseId": "135489|135493|136058|136059|136060|136061|136063|136067|136068|136070|136071|136075|136076|136077|136078|136080|136081|136082|136084|136085|136086|136088|207507|207520|207521|207522|207524|207526|292124|292126|296847|296865|296883|297972|297982|300127|300148|300176|300177|300181|304384|304385|304392|304393|304421|304427|304431|304440|304444|304452|304454|304455|304715|304717|304719|308148|308150|308153|308154|308162|308168|308175|308181|308192|308202|308207|308208|311944|313174|313176|313180|313181|313204|313212|313230|313231|313259|313260|313266|313273|313274|313275|313276|313287|313289|313290|313310|313318|313319|313321|313324|317624|318067|353664|353853", + "text": "Intellectual Disability, Recessive" + }, + { + "baseId": "135500|788841", + "text": "Pancreatic agenesis 2" + }, + { + "baseId": "135506|135513|279278|279286|279295|279301|279343|279491|279493|279494|279509|279534|279535|280795|280799|280804|280813|280845|280860|280873|280874|280875|280878|280923|280958|281836|281837|281838|284108|284129|284307|310250|315334|315350|315390|321364|321996|322000|322047|322051|353539", + "text": "Warburg micro syndrome" + }, + { + "baseId": "135641|217210|217211|217212|217213|552213|553352|919805|919806|966005", + "text": "Microcephaly, short stature, and polymicrogyria with or without seizures" + }, + { + "baseId": "135699|139369|202181|202713|205018|247612|274242|408707|429438|538432|571890|614378|677439|677440", + "text": "Seizures, benign familial infantile, 5" + }, + { + "baseId": "135764|135765|135766|265447|277092|277098|277101|277102|277109|277129|277131|277132|277134|277142|277367|277368|277371|277386|277388|277391|277392|277399|277400|277407|277414|278152|278186|278187|278202|278207|278216|278218|278225|278230|278232|278233|278234|278245|278255|434561", + "text": "Thiamine-responsive megaloblastic anemia" + }, + { + "baseId": "135802|377861|422425|649762|649770|684964|778515|849730|980090", + "text": "Creatine deficiency syndrome 1" + }, + { + "baseId": "136004|512821|553248|622363", + "text": "Spinocerebellar ataxia type 17" + }, + { + "baseId": "136063|963646", + "text": "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" + }, + { + "baseId": "136139|136140|141576|141581|141582|141583|142784|142785|142787|142788|142789|142790|142791|211976|338584|348160|348167|348169|351827|351828|351830|351831|351832|352680|352681", + "text": "Fatal Infantile Cardioencephalomyopathy" + }, + { + "baseId": "136364|513893", + "text": "Chronic pancreatitis" + }, + { + "baseId": "136391", + "text": "Mitochondrial complex 1 deficiency, nuclear type 28" + }, + { + "baseId": "136399", + "text": "Hearing loss, noise-induced, susceptibility to" + }, + { + "baseId": "136450|139869|339313|345189|345477|345487|345517", + "text": "Breast and Ovarian Cancer Susceptibility" + }, + { + "baseId": "136501|138844|186099|186108|186113|209861|212720|221873|221902|240679|240690|397026|397440|397495|397507|448122|448169|455980|474983|475013|515929|524729|525191|525316|558529|563347|564225|564311|564323|809550|918641|919242|919243|919244|919245|919246|920213|970914", + "text": "BCC1" + }, + { + "baseId": "136541|136542|488150", + "text": "Abdominal obesity-metabolic syndrome 3" + }, + { + "baseId": "136546|136547|136548|136549|136550|136551|136552|136554|166181|166358|178786|215005|215006|215007|215008|259620|259621|353891|418808|431535|486696|486697|608840|653854|682114|682115|682211|790294|798512|806410|806411|861037|961422|961423|961424|961425|980840", + "text": "Visceral myopathy" + }, + { + "baseId": "136546|136551|136552|136552|205237|214167|616000", + "text": "Chronic intestinal pseudoobstruction" + }, + { + "baseId": "136551|136552", + "text": "Visceral neuropathy, familial, autosomal dominant" + }, + { + "baseId": "136552|205237", + "text": "Megacystis" + }, + { + "baseId": "136558|136559|136560|136561|136562|206698|206699|227578|427611|446977|446979|447032|447035|447040|481335|514964|514980|556546|556579|556972|626091|626568|626569|626570|690323|690324|690328|690329|690331|690332|690333|694998|731561|798911|802116|822491|822492|921562|921563|929947|929948|941364|941365|952008|963345|963346", + "text": "Pontocerebellar hypoplasia, type 9" + }, + { + "baseId": "136583", + "text": "Atrophoderma vermiculatum" + }, + { + "baseId": "136583|918498", + "text": "Keratosis pilaris" + }, + { + "baseId": "136587", + "text": "Pyloric stenosis, infantile hypertrophic, 5" + }, + { + "baseId": "136739", + "text": "Multiminicore/minicore/multicore disease" + }, + { + "baseId": "136760|353882|360892|361048|677243|980754", + "text": "Proximal muscle weakness" + }, + { + "baseId": "136760|361048|625198", + "text": "Pelvic girdle muscle weakness" + }, + { + "baseId": "137030|137031|137032|137033|262391|362364|408455|424898|430956|430957|430958|577194|583112|791163|791167|791168|904173|904174|904175|904176|964121|964367|964369|970944", + "text": "Mental retardation, autosomal dominant 24" + }, + { + "baseId": "137034", + "text": "Mitochondrial complex III deficiency, nuclear type 7" + }, + { + "baseId": "137035|683215|683216", + "text": "Mental retardation, autosomal recessive 43" + }, + { + "baseId": "137053|137054|137055|137056|137057|137058|150445|150447|150448|226663|226664|247006|406937|438747|456104|456106|456440|456445|456452|456806|496877|521872|521875|522237|522243|522248|522272|561022|561123|563827|614307|614308|614309|635314|635315|635316|635317|635318|635319|635320|635321|635322|651683|651685|722155|730437|735788|735789|744153|744157|744290|750248|765889|765890|765891|782676|832590|832591|832592|832593|832594|832595|852042|852311|924522|933531|933532|933533|933534|933535|933536|933537|940052|945253|945254|954931|954932|954933|954934|959821", + "text": "Immunodeficiency 23" + }, + { + "baseId": "137063|137064|137065|260851|424625|424889|431902|481334|488151|536229|536230|538335|538946|550347|550348|576253|578382|621017|626107|654115|696668|788737|789961|789962|789963|798470|802121|805074|815977|918630|963487|964110|969277|969278|970165|975935|977175", + "text": "Xia-Gibbs syndrome" + }, + { + "baseId": "137063|137063|137064|137064|137065|137065", + "text": "Sleep apnea" + }, + { + "baseId": "137063|137064|137065|166182|166183|166184|166185|166186|166187|166188|166189|166190|166191|166192|360874|514192|514215|682760", + "text": "Neonatal hypotonia" + }, + { + "baseId": "137078|462491|462492|462754|463223|463233|527350|527373|527376|527379|527889|567066|641395|641396|641397|702520|713761|738881|769319|820521|840299|840300|917818|936273|936274|956950|956951|956952|956953|964400", + "text": "Early infantile epileptic encephalopathy 21" + }, + { + "baseId": "137082|137083|217219|217220|225875|360894|364064|413748|413749|481792|536739|538395|550181|550361|550790|575490|611414|621025|654130|687091|790751|798589|798590|815988|858740|919110|919111|919112|919113|969327|970863|970864|970865|976654|983796", + "text": "Mental retardation, autosomal dominant 26" + }, + { + "baseId": "137084|407359|457693|457704|457711|458294|458299|458353|458354|458661|510873|523717|523723|523961|523979|532147|532159|562257|567731|614485|637021|683997|687259|834547|834548|834549|955384|980490", + "text": "Conotruncal heart malformations" + }, + { + "baseId": "137086", + "text": "Deafness, autosomal recessive 101" + }, + { + "baseId": "137087|918574", + "text": "Giant axonal neuropathy 2, autosomal dominant" + }, + { + "baseId": "137210|286735|286740|286758|288960|288992|289357", + "text": "Neuroblastoma Susceptibility" + }, + { + "baseId": "137276|473782|550678", + "text": "Intrahepatic cholangiocarcinoma" + }, + { + "baseId": "137297|204041|204042|204043|204044|442508|442509|442510|536197|791234|791235|798654|800919|903591|919434|964850|973030", + "text": "Coffin-Siris syndrome 6" + }, + { + "baseId": "137721|137722|137725|143238|143239|143240|143241|143242|260854|269141|362760|362761|366311|366533|405690|428047|428050|428051|431903|450751|450755|450758|450968|490941|517998|518001|518041|518136|537347|550164|550351|550586|557489|557984|558336|560553|576102|608837|611383|611384|619907|629751|629752|629753|629754|629755|629756|650755|650948|672129|691110|691111|697499|697500|697502|733373|747496|747501|763124|763125|777287|781268|816445|826112|826113|826114|826115|826116|851412|922677|942746|953021|953022|961392|967263|970740|970852", + "text": "Tatton-Brown-rahman syndrome" + }, + { + "baseId": "137834|513900|514100", + "text": "Metachromatic leukodystrophy variant" + }, + { + "baseId": "137841", + "text": "Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified" + }, + { + "baseId": "137841|137849|333821|343775|349081|622466", + "text": "ERCC2-Related Disorders" + }, + { + "baseId": "137939|263045|304087|407292", + "text": "Langer-Giedion syndrome" + }, + { + "baseId": "138100|138105|138106|138109|253530|253535|256038|308234|312615|312633|318533|318542|319067|327107|327109|327113|327134|327136|327140|327141|327148|327149|327153|327168|327169|327171|327178|327179|336998|337004|337010|337016|337018|337021|337022|337024|337027|343231|343246|344838|344841|344844|344849|344850|344853|344857", + "text": "Inclusion Body Myopathy, Dominant" + }, + { + "baseId": "138125|138127|138129|138131|139286|193378|193379|253699|253700|253704|253706|268579|268591|309577|309579|309582|309583|309584|309585|309587|309588|309600|309606|309607|309608|314366|314367|314377|314378|314379|314389|314395|314396|314414|314416|314418|314419|314420|314421|314431|320436|320439|320440|320447|320448|320459|320461|320462|320467|320469|320470|320865|320874|320875|320877|320883|320884|320908|320909|320916|320920|320934|320936|320937|320942|320947|503156|569547|701223|737381|865489|865490|865491|865492|865493|865494|865495|865496|865497|865498|865499|865500|865501|865502|865503|865504|865505|865506|865507|865508|865509|865510|865511|865512|865513|865514|868451|868452|868453", + "text": "Isolated coronal synostosis" + }, + { + "baseId": "138162|235483|247653|327448|402038|422146|467353|488185|530769", + "text": "Potocki-Lupski syndrome" + }, + { + "baseId": "138201|257848|404264|430809|471610|535006|574743|650088|650089|650090|685017|685018|685019|685490|689519|689521|689522|695909|706246|821508|850105|850106|850107|850108|929753|929754|929755|929756|959312|960386", + "text": "gene sequencing" + }, + { + "baseId": "138388|361137", + "text": "Lymphedema" + }, + { + "baseId": "138512|425204|425209|425211|425219|425220|425227|425228", + "text": "atypical cerebral palsy" + }, + { + "baseId": "138646|138646|138649|138650|138651|138653|138657|138658|138659|138660|138660|138662|138665|138666|138667|138668|138669|138670|138671|138672|138673|138674|138676|138677|138678|138679|138680|138681|138683|138684|138688|138689|138690|138691|138692|138693|138694|138695|138696|138697|138698|138699|165580|165811|166009|166010|166011|171045|178597|192031|193301|194075|194471|195730|221062|221063|221064|221065|221066|221067|221068|221069|221070|221071|221807|221808|221809|221810|221811|221812|221813|221814|221815|224367|224368|240533|240534|240535|240536|240537|240538|240539|240540|240541|240542|240543|240544|240546|240547|240548|240549|240550|240551|240552|240553|240554|240555|240556|240557|240558|240559|240560|240561|240563|240564|240565|240566|240567|240568|240569|240570|240571|240572|240573|240574|240575|240576|240577|240578|240579|240580|240582|240583|240584|240585|240586|240587|240588|240589|258550|258553|258554|258556|258556|258559|258559|258561|258563|258564|258566|258567|258568|258569|258570|258572|258573|258575|258576|258577|258578|258581|258583|258583|258584|258586|258587|258588|258591|258592|258593|258594|258595|258597|258600|258602|258610|258610|269796|271889|273957|274161|274162|359915|359922|363225|363772|370197|370211|370217|370222|370271|370274|370278|370279|370735|370746|370751|370754|370775|370792|370795|371076|371092|371102|371111|371116|372772|372774|372778|372779|372782|396754|396755|396756|396763|396770|396774|396786|396787|396791|396794|396800|396803|396806|396809|396810|396819|396823|396824|396836|396842|396848|396849|396966|396975|396978|396986|396986|396993|396996|396996|396997|397001|397005|397007|397008|397021|397027|397032|397046|397068|397076|397080|397087|397088|397102|397105|397110|397113|397115|397119|397121|397124|397124|397129|397133|397138|397140|397142|397147|397148|397151|397156|397157|397160|397165|397166|397177|397184|397190|397195|397199|397214|397215|397318|397325|397329|397330|397331|397336|397338|397338|397339|397347|397355|397357|397362|397367|397384|397386|397391|397391|397392|407622|407624|415182|421733|421735|421736|425839|434941|444426|444427|444428|444429|444435|444436|444437|444438|444441|444442|458729|458924|458926|458928|458931|458932|458943|458954|458955|458957|458958|458966|458969|458972|458978|458983|458986|458991|458995|459000|459003|459015|459021|459033|459034|459039|459261|459263|459269|459273|459276|459278|459282|459286|459287|459292|459299|459300|459303|459305|459307|459312|459315|459315|459318|459322|459327|459333|459333|459336|459337|459338|459339|459341|459343|459344|459350|459351|459353|459355|459357|459359|459364|459366|459368|459370|459370|459372|459374|459376|459392|459397|459400|459402|459409|459411|459413|459416|459419|459751|459762|459764|459769|459771|459776|459778|459780|459780|459783|459786|459787|459791|459793|459807|459808|459811|459813|459815|459827|459836|459837|459841|459849|459867|459878|459889|459892|459900|480522|489967|491346|502437|502448|502449|502510|502514|502780|502782|502813|502827|502922|502941|502958|502964|503028|503196|503199|503292|510042|510045|510047|510050|510053|510060|510061|510062|510063|510066|510069|510070|510072|510074|510079|510084|510085|510087|510089|510091|510093|510095|510096|510098|510102|510103|510103|510110|510115|510119|514238|514239|514240|514241|514242|514243|514244|514245|514246|514247|514248|514249|514250|524367|524374|524383|524385|524396|524397|524404|524405|524409|524413|524418|524679|524682|524684|524691|524693|524698|524704|524708|524710|524714|524714|524718|524826|524833|524839|524841|524844|524846|524847|524853|524855|524858|524870|524873|524877|524879|524882|524961|524964|524968|524972|524976|524978|524992|524999|525002|525003|525011|525014|525017|536769|537857|551707|552444|552445|552446|563050|563052|563058|563060|563062|563064|563066|563078|563079|563079|563083|563085|563087|563089|563091|563783|563785|563791|563794|563795|563808|563815|563825|563828|563833|563842|563849|563851|565776|565777|565778|565780|565782|565783|565787|565788|565792|565794|565795|565800|568831|568834|568835|568839|568840|568843|568846|568846|568847|568848|568852|587013|614340|614961|614962|614967|614972|615211|624387|638047|638048|638049|638050|638051|638052|638053|638054|638055|638056|638057|638058|638059|638060|638061|638062|638063|638064|638065|638066|638067|638068|638069|638070|638071|638072|638073|638074|638075|638076|638077|638078|638079|638080|638081|638082|638083|638084|638085|638086|638087|638088|638089|638090|638091|638092|638093|638094|638095|638096|638097|638098|638099|638100|638101|638102|638103|638104|651818|651924|651928|651931|652012|655948|672076|672076|684074|684076|684077|684081|684082|684083|684085|687443|687446|687447|687449|687450|687452|687453|687456|687458|687459|687460|687462|689946|692641|692642|692650|692653|692654|692655|700895|700896|700897|723462|723467|723468|737024|737027|759782|759896|767294|767306|775536|787619|790866|790867|790868|790869|790870|790871|790872|796278|805615|820101|820102|820103|835873|835874|835875|835876|835877|835878|835879|835880|835881|835882|835883|835884|835885|835886|835887|835888|835889|835890|835891|835892|835893|835894|835895|835896|835897|835898|835899|835900|835901|835902|835903|835904|835905|835906|835907|835908|835909|835910|835911|835912|835913|835914|835915|835916|835917|835918|835919|835920|835921|835922|835923|835924|835925|835926|835927|835928|835929|835930|835931|835932|851732|925504|925505|925506|925507|925508|925509|925510|925511|925512|925513|925514|925515|925516|925517|925518|925519|925520|934666|934667|934668|934669|934670|934671|934672|934673|934674|934675|934676|934677|934678|934679|934680|934681|940934|946519|946520|946521|946522|946523|946524|946525|946526|946527|946528|946529|946530|946531|946532|955764|955765|955766|955767|955768|955769|955770|955771|961613", + "text": "Adams-Oliver syndrome 5" + }, + { + "baseId": "138657|210368|359762|360883|361033|400546|429714|510064|551447|551448|551449|551450|551451|551452|551453|551454|551455|551456|551457|551458|581210|581844|614653|971467", + "text": "Bicuspid aortic valve" + }, + { + "baseId": "138674|513183|552173", + "text": "Congenital heart defects" + }, + { + "baseId": "138812|188141|188142|214099|363384|363385|512433|791949|904322|964526", + "text": "Mental retardation, autosomal dominant 36" + }, + { + "baseId": "138939|138942|138943|138944|138946|138948|138949|138950|138953|138954|138956|138958|138959|138960|138961|138963|138966|138967|138969|138970|138972|138976|138978|224672|224673|224674|224675|359475|367600|367600|443465|452450|452455|452459|452463|452464|452466|452467|452472|452476|452480|452487|452666|452673|452677|452692|452698|452701|452703|452704|452711|452718|452720|452725|452727|452728|452737|452748|452749|452752|452755|452759|452762|452777|452779|452781|452789|452791|452991|452993|452999|453000|453002|453005|453009|453012|453019|453024|511494|511497|511498|519321|519332|519343|519347|519348|519350|519354|519355|519356|519361|519362|519368|519503|519514|519516|519528|519530|519533|519539|519540|519542|519549|519556|519558|519566|519572|519574|519576|519578|519590|519597|559008|559010|559012|559014|559526|559530|559532|559534|559536|559538|559540|559542|559544|559546|561605|561606|561609|561616|561617|561619|561624|561627|561629|561636|561638|562975|562997|563008|576752|621022|622330|631462|631463|631464|631465|631466|631467|631468|631469|631470|631471|631472|631473|631474|631475|631476|631477|631478|631479|631480|631481|631482|631483|631484|631485|631486|631487|631488|631489|691426|691427|691428|698127|698128|698129|698130|698132|698133|698135|698136|698137|708888|708890|720485|720486|720487|720488|720493|734093|734094|734096|734100|734101|734102|734104|748304|748305|748310|763923|763924|763926|763927|763928|763934|763936|763941|774833|774986|781688|781689|781691|781692|781693|793025|821891|821892|821893|821894|821895|821896|821897|821898|821899|821900|821901|821902|828191|828192|828193|828194|828195|828196|828197|828198|828199|828200|828201|828202|828203|828204|828205|828206|828207|828208|828209|828210|828211|828212|828213|828214|828215|828216|828217|828218|828219|828220|828221|828222|828223|828224|828225|828226|828227|828228|828229|828230|918833|920195|923224|923225|923226|923227|923228|923229|923230|923231|923232|923233|923234|923235|931966|931967|931968|931969|931970|931971|931972|931973|931974|931975|931976|931977|931978|931979|931980|931981|943572|943573|943574|943575|943576|943577|943578|943579|943580|943581|943582|943583|943584|943585|943586|943587|943588|943589|953500|953501|953502|953503|953504|953505|953506|953507|959699|959700|964224|964817|965619", + "text": "Luscan-lumish syndrome" + }, + { + "baseId": "139002|245206", + "text": "Curry-Jones syndrome" + }, + { + "baseId": "139020|236839|236840|236841|236842|236843|236844|236845|236850", + "text": "Microform holoprosencephaly" + }, + { + "baseId": "139022|139024|240730|397335|439503|439504|460505|460522|475248|626194", + "text": "Joubert syndrome 32" + }, + { + "baseId": "139069|139073|139075|139084|216910|216911|216912|216913|216914|216915|682261|699337|721738|777535|799439|961949|981520|981521|981522|981523|981524", + "text": "Autoinflammatory syndrome, familial, Behcet-like" + }, + { + "baseId": "139098|363522|364267|364268|364269|410258|513784|513786|513787|513788|513789|513790|513791|513792|513794|513795|513797|513802", + "text": "PARP Inhibitor response" + }, + { + "baseId": "139302|357085|620001|620002|620722", + "text": "MPL-Related Disorders" + }, + { + "baseId": "139316|139317|139323|139325|139336|139337|139340", + "text": "Relapsing remitting multiple sclerosis" + }, + { + "baseId": "139318|139319|139320|139321|139322|139324|139326|139327|139328|139329|139330|139331|139332|139333|139334|139335|139338|139339|139341", + "text": "Chronic progressive multiple sclerosis" + }, + { + "baseId": "139361|139362|139363|139364|139365|139366|139367", + "text": "Structural brain abnormalities" + }, + { + "baseId": "139361|139362|139363|139364|139365|139366|139367", + "text": "Neurological deficit" + }, + { + "baseId": "139371|181422|536138|536151|536160|536186|536187", + "text": "Cerebral calcification" + }, + { + "baseId": "139371", + "text": "Intracranial hemorrhage" + }, + { + "baseId": "139372|139373|425210|682118", + "text": "Myasthenic syndrome, slow-channel congenital" + }, + { + "baseId": "139375", + "text": "Spermatogenic failure 13" + }, + { + "baseId": "139378|139379|192126|252609|252613|259850|266683|266867|267345|267684|267728|268921|269124|269567|270377|270709|273597|273995|274386|274540|274549|274757|274829|275443|368925|368928|370821|456400|456410|456412|456413|456979|456983|457423|457427|457429|457433|489254|493199|522317|522319|522322|522326|522715|523049|523050|523053|523056|523058|561380|561539|581956|586225|635780|635781|635782|635783|635784|635785|692157|692158|730465|735954|750418|766108|790695|833130|833131|833132|833133|833134|833135|924701|924702|924703|933687|933688|933689|940066|945425|945426|945427|945428|955051|955052|955053|955054|955055", + "text": "Limb-girdle muscular dystrophy, type 1F" + }, + { + "baseId": "139381|800839", + "text": "Spermatogenic failure 14" + }, + { + "baseId": "139382|224860|224861|224862|224863|626147|858731", + "text": "Mitochondrial complex III deficiency, nuclear type 8" + }, + { + "baseId": "139774", + "text": "B Lymphoblastic Leukemia/Lymphoma" + }, + { + "baseId": "139827|185970", + "text": "Ewing sarcoma of soft tissue" + }, + { + "baseId": "139945|139947|139948|139949|212052|212054|349026|349033|352932", + "text": "Sideroblastic Anemia and Ataxia" + }, + { + "baseId": "140021|140022|205751|211299|211299|211306|211307|211307|211309|211313|211313|302009|302013|302014|302016|302021|305185|305194|305195|305198|305203|305204|309890|309893|309893|309896|309896|309901|309916|309916|309917|309918|309924|309929|309931|309948|309964|310017|310025|368952|369244|369512|456416|501886|514551|522605|635793|692166|692166|695352|722363|897558|897559|897560|897561|897562|897563|897564|897565|897566|897567|897568|897569|897570|897571|897572|897573|897574|897575|897576|897577|897578|897579|900320|900321|924716", + "text": "Cataract, autosomal recessive congenital 5" + }, + { + "baseId": "140035", + "text": "unspecified heart condition" + }, + { + "baseId": "140119|195446|211373|265577|308151|308152|308156|318388|318390|318392|318393|318856|318864|318874", + "text": "Coenzyme Q10 deficiency, Oculomotor Apraxia Type" + }, + { + "baseId": "140347|188490", + "text": "Short QT Syndrome 5" + }, + { + "baseId": "140562|140563|140566|140567|140568|140570|140571|140572|140574|140575|140577|140578|140579|140582|140583|140585|140586|140587|140588|140590|140591|140592|140593|140595|140595|140596|140597|140598|140599|140600|140601|140602|140604|140605|140606|140607|140608|140609|140610|140611|140612|140613|140614|140615|140616|140617|140618|140620|140621|140622|140623|140624|140627|140628|140629|140630|140631|140632|140633|140635|140635|140636|140636|140637|140637|140638|140638|140639|140640|140640|140641|140642|140642|140643|140643|140644|140644|140646|140646|140647|140647|140648|140648|140649|140649|140651|140651|140652|140652|140654|140655|140655|140656|140657|140658|140659|140660|140660|140661|140661|140662|140662|140663|140664|140664|140665|140665|140666|140666|140667|140668|140668|140669|140670|140671|140671|140673|140674|165529|165530|165530|178495|178495|178497|178498|178594|178596|192176|192811|193889|193892|194097|194215|194565|194613|194613|194698|195202|196151|205008|205759|209493|209493|209494|209495|209497|209498|209499|209499|209500|209500|209501|209502|209502|209505|209505|209507|209508|209512|209516|209517|209518|209518|209519|209520|209521|209522|209522|209523|209525|209527|209528|209529|209533|209533|209534|209534|209535|209538|209539|209539|209540|209541|209541|209542|209548|209555|209555|209556|209557|209559|209560|209560|209562|209562|209563|209569|209570|209572|209575|209576|209576|209578|209578|209579|209580|209580|209581|209962|209964|209966|209967|209968|209970|209971|209972|209973|209974|209975|209978|209979|209982|209985|209986|209987|209988|209989|209989|209990|209993|209994|209995|209996|209997|209998|210000|210001|210003|210005|210006|210008|210011|210014|210015|210016|210017|210018|210022|210023|210024|210024|210026|210028|210029|210031|210032|210035|210036|210037|210041|210042|210043|210044|210046|210047|210048|210051|210052|210053|210054|210055|210059|210062|210063|210064|210065|210066|210067|210068|210069|210070|210071|210072|210076|210078|210079|210083|210084|210087|210088|210089|210090|210091|210093|210094|210096|210100|210102|210106|210108|210109|210113|210114|210115|210117|210118|210119|210122|210124|210125|210128|210130|210131|210134|210135|210136|210137|210138|210142|210144|210148|217340|217341|217343|221806|224247|224247|224365|250467|252982|253410|253412|253420|253424|253434|253455|258231|258233|258233|258234|258526|258530|258532|258533|258537|258542|258544|258545|258548|258549|258558|259715|264322|265723|267387|283541|283547|283548|283559|283566|283568|283571|284203|284215|284216|284223|284226|284233|286134|286163|286165|286172|286200|286206|286224|286226|286241|286241|286243|286526|286528|286541|286542|286543|286545|286560|286569|286575|286575|286579|286579|286587|307468|307488|307490|307495|307496|307502|307509|307524|307547|311704|311705|311706|311710|311711|311726|311732|311733|317251|317263|317291|317298|317305|317318|317327|317367|317369|317660|317667|317688|317696|317714|317716|317731|317754|317766|317768|317798|317820|317828|317839|359796|359798|359913|361194|362443|365961|366013|366205|366218|366219|366223|366224|366226|366226|366233|366244|366270|366764|366764|366790|370022|370056|370077|370539|370540|370812|370818|370835|370837|372439|372466|372488|372533|372549|392269|392270|392364|392365|392366|392369|392426|392428|392431|392444|392452|392478|392483|392492|392494|392507|392515|392515|396638|396642|396645|396647|396649|396655|396660|396673|396681|396687|396698|396700|396843|396845|396858|396859|396867|396885|396888|396891|396896|396959|396964|396972|396980|396982|396983|396985|396995|396998|397004|397011|397018|397019|397273|397280|397288|397289|433444|433445|499416|499437|499448|510006|629211|629212|629212|629213|629213|629215|629216|629217|629218|629219|629220|629221|629222|629223|629224|629225|629225|629227|629229|629230|629231|629233|629234|629234|629235|629236|637939|637940|637941|637942|637943|637944|637945|637946|637947|637948|637949|637950|637953|637954|637955|637957|637958|637959|637960|637961|637962|637963|637964|637965|637966|637967|637968|637969|637970|637971|637972|637973|637974|637975|637976|637978|637980|637981|637982|637983|637984|637985|637986|637987|637988|637989|637990|637991|637992|637993|637994|637995|637996|637998|650904|650905|651837|651891|651915|651920|651922|651990|652041|652139|652145|683462|684059|684059|684060|687396|687397|687399|687400|687401|687402|687408|687412|689695|689696|689697|689939|692630|692631|692633|695428|700882|711847|711848|736995|744459|751529|759734|762734|767246|767248|767253|767256|777731|781098|781098|789375|799271|799272|825493|825494|825495|825497|825498|825499|825500|825502|825503|825504|825505|825507|825508|825509|825510|825510|825511|825513|825514|825516|835744|835745|835746|835747|835748|835749|835750|835752|835753|835755|835756|835757|835759|835760|835761|835763|835764|835765|835766|835767|835768|835769|835771|835772|835773|835774|835775|835776|835777|835778|835780|835781|835782|835784|835785|835786|835787|835788|835790|835791|835794|835795|835796|850823|850866|850868|851141|851247|851728|852168|852170|852499|858310|883054|883055|883056|883057|883058|883059|883060|918718|918719|918720|918721|918722|919199|919200|919201|919202|919203|920267|920268|964652|965875|981378|981379|981380|981381", + "text": "Ehlers-Danlos syndrome classic type 2" + }, + { + "baseId": "140785|210896|210897|210898|247473|247477|247479|247480|626132", + "text": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4" + }, + { + "baseId": "141047|171281|171282|209762|209778|209807|258390|258402|258408|273965|297049|368157|443671|454415|520509|614279|614280|622345|799393|816312|918917|918918|918919|918920", + "text": "Macular degeneration, early-onset" + }, + { + "baseId": "141317|141318|612467", + "text": "Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs" + }, + { + "baseId": "141324|141325|141325|141326|141327|141328|141329|150464|150465|187227|187227|250309|275325|363749|363926|363926|363975|413549|414825|427919|438163|438702|442980|448752|448756|448764|448770|448771|448974|448976|449036|449054|449056|449070|449071|516211|516475|516478|516480|516567|516572|516575|516581|516583|516586|516591|516593|516596|516598|516599|516601|516602|516612|516619|516625|516629|516633|516637|516638|538339|538952|538952|557584|557586|557588|557590|558813|558815|558817|559296|559298|559300|559302|578389|578390|578391|612450|614222|614223|614224|614225|614226|614227|614597|624756|626117|626117|628684|628685|628686|628687|628688|628689|628690|628691|628692|628693|628694|628695|628696|628697|628698|628699|628700|628701|628702|628703|650851|650886|678120|690822|690823|690824|690825|690827|690828|690829|690830|690831|690832|690833|690834|690835|690837|690838|690839|690840|690841|695093|695094|695095|697109|697112|697113|697114|707805|707806|730067|732867|762319|762322|762323|777146|778889|790069|800764|800765|800766|800767|800768|800769|800770|800771|800772|800773|800774|800775|800776|800777|800778|800779|800780|800781|800782|824978|824979|824980|824981|824982|824983|824984|824985|824986|824987|824988|824989|824990|824991|824992|824993|824994|824995|824996|824997|824998|824999|825000|825001|825002|825003|825004|825005|825006|825007|825008|825009|850838|851342|918678|922300|922301|922302|922303|922304|930867|930868|930869|930870|930871|930872|930873|930874|930875|939852|940660|942295|942296|942297|942298|942299|942300|942301|942302|952737|952738|952739|952740|959583|959584|961254|961645|964165|970713|975892|975893", + "text": "Aicardi-Goutieres syndrome 7" + }, + { + "baseId": "141325|187227|187227|250307|250309|275325|363749|363926|363926|363975|413549|414825|427919|438163|438702|448752|448756|448764|448770|448771|448974|448976|449036|449054|449056|449070|449071|516211|516475|516478|516480|516567|516572|516575|516581|516583|516586|516591|516593|516596|516598|516599|516601|516602|516612|516619|516625|516629|516633|516637|516638|538339|538952|538952|557584|557586|557588|557590|558813|558815|558817|558817|559296|559298|559300|559302|578389|578391|614222|614223|614224|614225|614226|614227|624756|626117|626117|628684|628685|628686|628687|628688|628689|628690|628691|628692|628693|628694|628695|628695|628696|628697|628698|628699|628700|628701|628702|628703|650851|650886|690822|690823|690824|690825|690827|690828|690829|690830|690831|690832|690833|690834|690835|690837|690838|690839|690840|690840|690841|695093|695094|695095|697109|697112|697113|697114|707805|707806|730067|732867|762319|762322|762323|777146|778889|790069|790069|824978|824979|824980|824981|824982|824983|824984|824985|824986|824987|824988|824989|824990|824991|824992|824993|824994|824995|824996|824997|824998|824999|825000|825001|825002|825003|825004|825005|825006|825007|825008|825009|850838|851342|918677|918678|918678|920160|922300|922301|922302|922303|922304|930867|930868|930869|930870|930871|930872|930873|930874|930875|939852|940660|942295|942296|942297|942298|942299|942300|942301|942302|952737|952738|952739|952740|959583|959584|961254|975892|975893", + "text": "Singleton-Merten syndrome 1" + }, + { + "baseId": "141331|141332|237493|430044|539077|619911|964495", + "text": "Gordon's syndrome" + }, + { + "baseId": "141333|430044|539077|626266|626319", + "text": "Marden-Walker syndrome" + }, + { + "baseId": "141637|141638|141640|211639|316885|316889|316904|316907|316909|316910|316912|316913|316916|324499|324508|324510|324522|330637|330661|330689|330692|330694|330705|330707|332004|332011|332012|332022|332036|332039|332072|332081|332087|332103|332105|332107|332108", + "text": "Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis" + }, + { + "baseId": "142240|187894|253284|359757|424259|439630|458740|502861|523825|562690|562691|622044|622045|622046|637644|637645|637646|687353|692569|820046|835434|835435|934528|940126|946339|946340", + "text": "Oligosynaptic infertility" + }, + { + "baseId": "142556|142557|142560|142561|142562|211588|503924|738547", + "text": "Sideroblastic anemia" + }, + { + "baseId": "142930|207000|207001|286250|286253|286271|286286|286288|287026|289328|289337|289342|289349|289674|289678|289679|289683|289702|858733", + "text": "Gingival fibromatosis" + }, + { + "baseId": "143128|143129|143130|143138|143139|143140|143141|143142|215267|362137|610373|626433|626434|626435|626436|626437|626438|626439|672048|697765|790316|917745|963532", + "text": "Intellectual disability-cataracts-calcified pinnae-myopathy syndrome" + }, + { + "baseId": "143136|143137|548213|548583|548989|806440", + "text": "Pontocerebellar hypoplasia, type 2e" + }, + { + "baseId": "143150", + "text": "isolated follicle-stimulating hormone deficiency" + }, + { + "baseId": "143157|214100|538398|672025|672026|790788|790789|805087|961781", + "text": "Diarrhea 7" + }, + { + "baseId": "143158|143159|143160|143161|143162|513102|513103|841787", + "text": "Cone-rod dystrophy 19" + }, + { + "baseId": "143164|143165|143166|143167|143168|143169|143170|143171|205690|205692|368885|406962|428667|428669|428671|428672|444050|456118|456127|456128|456131|456132|456134|456134|456136|456137|456144|456147|456149|456151|456153|456161|456168|456171|456176|456187|456188|456194|456205|456211|456387|456389|456393|456397|456403|456405|456409|456414|456418|456420|456422|456424|456433|456442|456446|456449|456457|456467|456474|456475|456685|456687|456689|456691|456696|456700|456701|456703|456705|456708|456710|456711|456712|456715|456719|456723|456725|456733|456735|456740|456742|456750|456752|456755|456756|456815|457035|457037|457039|457041|457043|457047|457048|457050|457067|457068|457074|457079|457086|457088|457091|457099|457101|457104|457108|457110|457112|457118|457119|457120|457122|457127|457128|457135|457143|457146|457149|457152|457155|457157|474473|474477|474483|474484|474485|474487|474488|474492|474496|474502|474505|474507|474508|474596|474603|474604|474608|474613|474614|501793|501874|502187|522092|522095|522105|522106|522116|522118|522122|522124|522126|522131|522132|522148|522149|522154|522362|522364|522368|522371|522372|522376|522378|522387|522389|522390|522391|522458|522460|522463|522466|522468|522471|522472|522476|522478|522490|522493|522497|522499|522814|522818|522823|522827|522832|522835|522847|522848|522851|522853|522856|522858|536322|561029|561249|561251|561253|561255|561260|561262|561264|561266|561268|561272|561277|561282|561328|561329|561333|561342|561345|561352|561353|561361|561370|561373|563841|563986|563988|563989|563991|563993|563995|563998|564000|564003|564011|564012|566345|566348|566351|566358|566360|566371|566373|566374|566379|566386|566387|635574|635575|635576|635577|635578|635579|635580|635581|635582|635583|635584|635585|635586|635587|635588|635589|635590|635591|635592|635593|635594|635595|635596|635597|635598|635599|635600|635601|635602|635603|635604|635605|635606|635607|635608|635609|635610|635611|635612|635613|635614|635615|635616|635617|635618|635619|635620|635621|635622|635623|635624|635625|635626|651638|651651|651653|651655|651657|651658|651704|692124|692125|692126|692127|692128|692129|695343|695344|699793|699794|699795|699796|699797|699798|699799|722282|722284|735921|759542|766040|766045|766046|782763|782765|808880|808885|808888|808889|808891|808906|808908|808909|808913|808914|808915|808926|808939|815370|815372|819810|819811|819812|819813|819814|819815|819816|819817|819818|819819|819820|832913|832914|832915|832916|832917|832918|832919|832920|832921|832922|832923|832924|832925|832926|832927|832928|832929|832930|832931|832932|832933|832934|832935|832936|832937|832938|832939|832940|832941|832942|832943|832944|832945|832946|832947|832948|832949|832950|832951|832952|832953|832954|851618|851620|851622|851624|852052|852054|852323|852324|852329|858446|924625|924626|924627|924628|924629|924630|924631|924632|924633|924634|924635|924636|924637|924638|924639|924640|924641|924642|924643|924644|924645|924646|924647|924648|924649|924650|924651|924652|924653|933614|933615|933616|933617|933618|933619|933620|933621|933622|933623|933624|933625|933626|933627|933628|933629|933630|933631|933632|940058|940059|940060|940061|940868|940869|945358|945359|945360|945361|945362|945363|945364|945365|945366|945367|945368|945369|945370|945371|945372|945373|955003|955004|955005|955006|955007|955008|955009|955010|955011|955012|959829|959830|960622|960623|983503", + "text": "Melanoma, cutaneous malignant, susceptibility to, 10" + }, + { + "baseId": "143173|143174|361177|589817|611385|654122|790284|798510|858549|963127", + "text": "Mental retardation, autosomal dominant 27" + }, + { + "baseId": "143175|143176|143177", + "text": "Nephrotic syndrome, type 10" + }, + { + "baseId": "143180|143181|143182|143183|215212|363846|364008|427855|438773|438974|439236|440519|440520|448109|448138|448141|448152|448153|448155|448161|448170|448173|448175|448176|448181|448183|448192|448198|448202|448221|448223|448234|448248|448251|448254|448258|448259|448262|448264|448269|448271|448273|448275|448276|448279|448281|448290|448291|448293|448294|448298|448300|448301|448302|448305|448310|448311|448313|448317|448322|448385|448388|448390|448391|448394|448397|515999|516003|516012|516014|516020|516023|516025|516026|516033|516035|516038|516039|516044|516046|516050|516056|516058|516061|516063|516065|516066|516158|516165|516171|516175|516182|516184|516188|516193|557111|557113|557115|557117|557119|557120|557124|557158|557159|557330|557332|557334|557336|557338|557340|557342|557344|557346|557348|557350|557352|557387|557389|557391|557393|557395|557397|557399|558004|558010|558013|558015|558016|558018|558020|558022|558561|558563|558565|558567|558569|558571|576551|628171|628172|628173|628174|628175|628176|628177|628178|628179|628180|628181|628182|628183|628184|628185|628186|628187|628188|628189|628190|628191|628192|628193|628194|628195|628196|628197|628198|628199|628200|628201|628202|628203|628204|650594|650684|650686|650691|650739|650743|650744|695059|696822|696824|696825|696826|707486|707488|707489|707492|730018|732540|732541|732543|732546|732547|746603|746605|746607|758935|762028|762030|762032|762035|762036|762037|762039|762047|774532|774541|774559|777095|777142|780748|780750|780752|789990|789991|792719|794708|824291|824292|824293|824294|824295|824296|824297|824298|824299|824300|824301|824302|824303|824304|824305|824306|824307|824308|824309|824310|824311|824312|824313|824314|824315|824316|824317|824318|824319|824320|824321|824322|824323|824324|824325|824326|824327|824328|824329|824330|824331|824332|824333|824334|824335|824336|824337|824338|824339|824340|824341|824342|824343|824344|824345|850779|850781|850810|851001|851317|851319|922127|922128|922129|922130|922131|922132|922133|922134|922135|922136|922137|922138|922139|922140|922141|922142|922143|922144|922145|930620|930621|930622|930623|930624|930625|930626|930627|930628|930629|930630|930631|930632|930633|930634|930635|930636|930637|930638|930639|939823|940646|942057|942058|942059|942060|942061|942062|942063|942064|942065|942066|942067|942068|942069|942070|942071|942072|942073|942074|942075|942076|942077|942078|942079|942080|952488|952489|952490|952491|952492|952493|952494|952495|952496|959567|970699", + "text": "Epileptic encephalopathy, early infantile, 23" + }, + { + "baseId": "143184|143185|143186|143187|143188|143189|143190|372595|375471|462537|462813|462818|463290|463296|527419|527707|527956|527957|568206|572146|641504|641505|695588|702548|702549|784496|840454|840455|840456|840457|840458|840459|840460|840461|840462|840463|840464|840465|840466|840467|840468|840469|840470|840471|840472|840473|851961|926785|926786|926787|926788|936316|936317|936318|948237|948238|948239|948240|948241|948242|948243|957004|957005|957006|957007|957008|957009|960795", + "text": "Nephronophthisis 18" + }, + { + "baseId": "143201|143202|143203|143204|143205|190605|362328|362329|488155|560357|560468|578433|614288|830876|970809", + "text": "Epileptic encephalopathy, early infantile, 24" + }, + { + "baseId": "143212", + "text": "Deafness, autosomal recessive 44" + }, + { + "baseId": "143224|143225|143226|143227|143228|143235|395336|788781|800940", + "text": "Ciliary dyskinesia, primary, 29" + }, + { + "baseId": "143229|971089", + "text": "Gingival fibromatosis-hypertrichosis syndrome" + }, + { + "baseId": "143243|143244|143245|143246|418200|917884|918884|964113|976010", + "text": "Microphthalmia/coloboma and skeletal dysplasia syndrome" + }, + { + "baseId": "143250|143251|143252|143253|174555|174828|214139|217221|217222|217223|264337|319672|361198|384405|384407|432381|481859|620335|682120|794155|794156|794157|794158|794159|794160|794161|794162|794163|794164|794165|961858|961859", + "text": "Progressive familial intrahepatic cholestasis 4" + }, + { + "baseId": "143254|143255|143256|143257|143258|188112|188113|227137|263863|264958|265101|265107|351150|360425|361112|378331|424673|430367|430370|431923|446267|512461|512464|537005|580560|580649|611432|611433|611434|682588|788940|791989|791990|805139|816495|919917|919918|919919|961352|963914|964533|964534|971149|972996|972997|972998|972999|973000|973001|973002", + "text": "Helsmoortel-Van der Aa Syndrome" + }, + { + "baseId": "143259", + "text": "Hypotrichosis 12" + }, + { + "baseId": "143261|187138|187139|190633|371851|372605|372869|374641|421908|434505|461651|461865|503563|526694|526695|526698|526712|526941|527267|565087|565089|640658|640659|640660|640661|640662|640663|640664|713388|713389|724948|738502|753162|779751|784291|839359|839360|839362|839363|839364|839365|839366|839367|839368|839369|850699|851931|926479|926480|926481|935931|935932|935933|947800|947801|947802|947803|947804|947805|947806|956762", + "text": "Myopathy, tubular aggregate, 2" + }, + { + "baseId": "143266|404804|404805|615449|801124|801125", + "text": "Platelet-type bleeding disorder 18" + }, + { + "baseId": "143271|210598|276217|276243|276475|276476|276486|276496|276497|276514|276860|276909|276951|276972|302044|633625", + "text": "Hereditary motor and sensory neuropathy" + }, + { + "baseId": "150121|150122|150123|677129", + "text": "Amelogenesis imperfecta, hypomaturation type IIA5" + }, + { + "baseId": "150138|448044|515859|515862|515887|515888|515916|515917|515920|515986|557053|557055|557317|627833|627834|627835|627836|627837|627838|627839|627840|627841|627842|707408|718963|718964|732450|732451|759022|761922|761925|777078|823960|823961|823962|823963|823964|922016|922017|930485|930486|939812|940635|941939", + "text": "Immunodeficiency 24" + }, + { + "baseId": "150140", + "text": "Microphthalmia, syndromic 13" + }, + { + "baseId": "150142|181445|445590|445592|512217|983549", + "text": "Developmental and epileptic encephalopathy, 77" + }, + { + "baseId": "150144|792729", + "text": "Hypotrichosis 13" + }, + { + "baseId": "150146|980397", + "text": "Bardet-Biedl syndrome 19" + }, + { + "baseId": "150287|583166", + "text": "Retinitis pigmentosa 84" + }, + { + "baseId": "150292|150293", + "text": "Atrial fibrillation, familial, 17" + }, + { + "baseId": "150294", + "text": "Fibrous Sheath Dysplasia" + }, + { + "baseId": "150295", + "text": "axonemas with defects on microtubules" + }, + { + "baseId": "150295", + "text": "sperm axonema without dynein arms and nexin bridges" + }, + { + "baseId": "150299|150300|230045|230052|230107|230111|230120|230135|230156|230180|230181|804844", + "text": "M\u00e9ni\u00e8re's disease" + }, + { + "baseId": "150320|150321|150322", + "text": "Spondylometaphyseal dysplasia, Sedaghatian type" + }, + { + "baseId": "150326|150327|150328|150329|150330|150331|150332|150333|424441|426335|446236|469358|469360|470370|470374|470376|470888|533508|533510|533555|533560|533600|534091|571234|571235|572889|572893|572897|573501|573502|575100|575101|575102|614474|648670|648671|648672|648673|648674|648675|648676|648677|648678|648679|648680|648681|648682|648683|648684|648685|648686|648687|648688|648689|653211|653533|653553|716983|728658|742403|757522|757528|773104|779977|792583|821325|848388|848389|848390|848391|848392|848393|848394|848395|848396|848397|848398|848399|848400|920416|929184|929185|929186|929187|929188|929189|929190|938976|938977|938978|938979|951091|951092|951093|951094|951095|958835|958836|958837|958838|958839|958840|961965|980968", + "text": "Polyglucosan body myopathy 1 with or without immunodeficiency" + }, + { + "baseId": "150443|621038|792493", + "text": "Mental retardation, X-linked 100" + }, + { + "baseId": "150449|150450|981454|981455", + "text": "Lymphedema, hereditary, ID" + }, + { + "baseId": "150451|150452|802193", + "text": "Diamond-Blackfan anemia 13" + }, + { + "baseId": "150454|150455|150456|150457|213981|250311|250312|250316|250317|250320|250322|448978|449040|449075|449076|449223|449225|449239|449240|449271|516640|557592|557654|557656|558827|628976|682302|682303|682304|682305|682306|690843|690844|690845|690846|690848|690874|690885|690886|690887|690888|690893|695096|695101|697116|697118|697119|697120|697122|697123|697124|697135|697138|697142|697143|697145|697154|707831|732871|732905|746891|780914|825237|930876|930969|965212|973098|976005", + "text": "Anterior segment dysgenesis 7" + }, + { + "baseId": "150458|178407|178407|200688|200688|200689|200689|469914|469920|469926|469931|469933|470842|470915|471374|471379|471382|471799|508104|534074|534081|534085|534165|534606|571718|573279|573283|573287|573956|573958|573964|649209|649210|649211|649212|649213|649214|649215|649216|653271|653686|694692|705821|776953|786560|821403|849084|849085|849086|849087|849088|929410|939211|939212|939213|960960", + "text": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 2" + }, + { + "baseId": "150458|178407|200688|200689|469914|469920|469926|469931|469933|470842|470915|471374|471379|471382|471799|508104|534074|534081|534085|534165|534606|571718|573279|573283|573287|573956|573958|573964|649209|649210|649211|649212|649213|649214|649215|649216|653271|653686|694692|705821|776953|786560|821403|849084|849085|849086|849087|849088|929410|939211|939212|939213|960960", + "text": "Myopathy, isolated mitochondrial, autosomal dominant" + }, + { + "baseId": "150466|150467|150468|214822|214823|214824|214825|214826|264863|360315|362160|375599|375603|375605|375644|375661|376488|376494|376508|376514|376523|376570|376571|376584|376589|376591|376600|376603|378691|378710|378716|378721|378726|410222|422189|445867|445871|445872|467346|467351|467355|468279|468283|468286|468287|468292|468294|468722|468728|468729|468967|468969|468976|495441|507103|507105|531695|531698|531701|531710|531765|531825|531828|532064|532066|532069|532071|532075|536955|569672|569676|570745|571543|571547|571562|572165|572168|580266|580279|580353|646580|646581|646582|646583|646584|646585|646586|646587|646588|646589|646590|646591|646592|646593|646594|646595|646596|646597|646598|646599|646600|646601|646602|653361|715638|727366|727367|731176|756078|771773|771774|776516|780134|788262|791817|791818|791819|791820|821149|821150|846087|846088|846089|846090|846091|846092|846093|846094|846095|846096|846097|846098|846099|846100|846101|846102|846103|851751|928499|928500|928501|928502|928503|928504|928505|928506|928507|938185|938186|938187|938188|938189|938190|938191|940431|950226|950227|950228|950229|950230|950231|950232|950233|950234|950235|958279|958280|958281|964692", + "text": "Epileptic encephalopathy, early infantile, 25" + }, + { + "baseId": "150467|168792|486728|486729|486762|486763", + "text": "Undetermined early-onset epileptic encephalopathy" + }, + { + "baseId": "150775|233048|550677|550679", + "text": "Rectal Adenocarcinoma" + }, + { + "baseId": "150897", + "text": "Bilateral breast carcinoma" + }, + { + "baseId": "151124|151125|151127", + "text": "Trichomegaly" + }, + { + "baseId": "151138|151140|151141|359597|368886|369077|370328|481504|481505|481506|513420|513421|626161|626162|790609|795814|903542|939762|939763|939764|939765|939766", + "text": "Combined oxidative phosphorylation deficiency 20" + }, + { + "baseId": "151642|496224|496686|677186", + "text": "Alveolar rhabdomyosarcoma (disease)" + }, + { + "baseId": "151773|182669|212544|227140|227141|309444|395996|396013|455993|522734|522773|566301", + "text": "Osteofibrous dysplasia" + }, + { + "baseId": "151773|181585|182669|212544|309444|395996|396013|455993|522734|522773|566301", + "text": "Deafness, autosomal recessive 97" + }, + { + "baseId": "152171", + "text": "Myeloid Leukemia Associated with Down Syndrome" + }, + { + "baseId": "152753|791991", + "text": "Ataxia-telangiectasia-like disorder 2" + }, + { + "baseId": "152755|152756|152757|152758|970835", + "text": "Leukoencephalopathy, progressive, with ovarian failure" + }, + { + "baseId": "152759|152760|612252", + "text": "Combined oxidative phosphorylation deficiency 21" + }, + { + "baseId": "152772|152773|152774|190426|190426|318595|319133|319145|438816|459243|459543|460088|511840|524861|524864|524865|524989|563262|563263|638314|638315|700994|700995|700996|700997|700998|700999|701000|737129|751704|777818|777820|836153|836154|836155|836156|836157|925595|925596|925597|925598|925599|955850|964332|964334", + "text": "Epiphyseal chondrodysplasia, miura type" + }, + { + "baseId": "152775|309029|422800|428632", + "text": "Spinocerebellar ataxia type 34" + }, + { + "baseId": "152776|152777", + "text": "Retinitis pigmentosa 70" + }, + { + "baseId": "152952", + "text": "Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4)" + }, + { + "baseId": "152977|538403|550115|550116|550234|679962|798606|798607|816402|858614", + "text": "Steel syndrome" + }, + { + "baseId": "153138", + "text": "Loss of ability to walk" + }, + { + "baseId": "153190|181434|181465|187513|243987|248477|263251|263269|263347|362144|362151|404617|514175|514196|550130|581716|677986|677997|677998|678003|678021|679836|921237|921238|965572", + "text": "Attention deficit hyperactivity disorder" + }, + { + "baseId": "153385|203726|263305|263309|360878|415601|513945|514007|514130|550127", + "text": "Absent speech" + }, + { + "baseId": "153385", + "text": "Irregular respiration" + }, + { + "baseId": "153574|965613|965614", + "text": "Deafness, autosomal recessive 99" + }, + { + "baseId": "153582|225833|539108|788947|806421|976685", + "text": "Mental retardation, X-linked 101" + }, + { + "baseId": "153586|153587|153588|389615|454652|454654|454711|454712|454714|454716|455169|521042|521045|521173|521182|521224|521226|560264|560266|560268|564807|564814|612695|633485|633486|633487|633488|633489|633490|633491|633492|633493|633494|633495|633496|633497|633498|721243|721244|721245|721246|734875|749257|749259|749260|764915|764916|782186|819559|830363|830364|830365|830366|830367|830368|830369|830370|830371|830372|851917|923890|923891|923892|923893|932731|932732|932733|932734|944418|944419|944420|944421|954053|954054|960555", + "text": "Sting-associated vasculopathy, infantile-onset" + }, + { + "baseId": "153636", + "text": "Azathioprine response" + }, + { + "baseId": "153638|153639|172306", + "text": "Ruijs-Aalfs syndrome" + }, + { + "baseId": "153653", + "text": "Seckel syndrome 8" + }, + { + "baseId": "153655", + "text": "Pontocerebellar hypoplasia, type 10" + }, + { + "baseId": "153684", + "text": "Ocular coloboma, autosomal recessive" + }, + { + "baseId": "153711|153712|153713|153714|153715|153716|263838|654137", + "text": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3" + }, + { + "baseId": "153719|262391|360932|408455|408456|577194|904168|904169|904177|904178|904181|919380|963162", + "text": "Dyskinesia, seizures, and intellectual developmental disorder" + }, + { + "baseId": "153721|153722", + "text": "Myopia 24, autosomal dominant" + }, + { + "baseId": "153744|153745|153746|153747|153748|153749|153750|153751|153752|153753|906166|964299", + "text": "Hyperlipoproteinemia, type ID" + }, + { + "baseId": "153754|153755|153756|800958", + "text": "Mental retardation, autosomal recessive 44" + }, + { + "baseId": "153775|153776|201016", + "text": "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4" + }, + { + "baseId": "153777|153778|153779|539040|590788|613493|613494|788856|788857|791170|816354|816355|919391", + "text": "Orofaciodigital syndrome xiv" + }, + { + "baseId": "153787|153788|153789|153790|153791|153792|153793|654801", + "text": "Acth-independent macronodular adrenal hyperplasia 2" + }, + { + "baseId": "153824|153825|453571|453572|453573|453575|453577|453579|453587|453588|453834|453837|453840|453982|454007|454008|454011|454365|454368|454371|513548|520139|520140|520149|520275|520282|520523|520545|520547|520549|520554|559948|562271|562278|632474|632475|632476|632477|632478|632479|632480|632481|632482|632483|632484|632485|651174|651280|691625|691629|691630|698652|698653|782045|829493|829494|829495|829496|829497|923617|932456|944132|944133", + "text": "Limb-girdle muscular dystrophy, type 1G" + }, + { + "baseId": "153826|153827|207421|678968|919041|972773", + "text": "Spinocerebellar ataxia 38" + }, + { + "baseId": "153859|153860|153861|153862|153863|206575|206576|206577|206578|206579|206580|434669|497507|513474|513475|513654|513655|575504|578562|672150|791881|791882|791883|905870|919804|919807|971601|971602", + "text": "Poretti-Boltshauser syndrome" + }, + { + "baseId": "153865|153866|226083|226084|252303|415044|614300|614301|614302|614303|614304|816313|980459|980460", + "text": "Vesicoureteral reflux 8" + }, + { + "baseId": "164076", + "text": "Immunodeficiency 26 without neurologic abnormalities" + }, + { + "baseId": "164077|164078|363870|363992|369480|369483|369486|369491|369498|369976|369977|369979|370260|370264|370265|370268|370270|370272|370276|370277|371875|371906|371915|371919|371922|407395|421681|433863|433864|433865|438392|457879|457885|457890|457892|457895|457898|457906|458476|458477|458479|458481|458523|458532|458534|458536|458545|458549|458551|458560|458944|458945|458947|458949|458961|458962|458963|458970|489679|502026|502336|523587|523589|523591|523592|523600|523604|523607|523609|523614|523621|523629|523633|523634|523922|523926|523928|523929|523931|523938|523943|523944|523946|523947|523953|523955|523959|523962|523965|524191|524194|524195|524196|524198|524199|524201|524203|524206|524207|524208|524211|524213|524215|524218|524221|524223|524231|524235|524243|524249|524250|539013|562431|562434|562439|562442|562444|562447|562452|562454|562457|562461|562463|562465|562467|562469|562962|562964|562966|562968|562970|562978|562981|562983|565145|565147|565150|565153|565155|565157|565160|565161|565164|565166|565172|565175|565177|567935|567943|567944|567956|567962|567966|567971|567974|567981|567986|567987|567991|567993|614320|614321|624373|637228|637229|637230|637231|637232|637233|637234|637235|637236|637237|637238|637239|637240|637241|637242|637243|637244|637245|637246|637247|637248|637249|637250|637251|637252|637253|637254|637255|637256|637257|637258|637259|637260|637261|637262|637263|637264|637265|637266|637267|637268|637269|637270|637271|637272|637273|637274|637275|637276|637277|637278|637279|637280|637281|637282|637283|637284|637285|637286|637287|637288|637289|637290|637291|637292|637293|637294|637295|637296|637297|637298|637299|637300|651753|651788|651790|651802|651804|651808|651904|651980|700597|700598|700599|711553|711554|711555|711556|711558|711559|711560|711561|723118|723119|723121|723124|723125|723126|723128|723129|723130|730580|736690|736691|736692|736696|736697|736698|736699|736700|751183|751185|751187|751188|751191|766837|766840|766849|766852|766853|777710|779290|783121|783128|783129|787609|819968|819969|819970|834796|834797|834798|834799|834800|834801|834802|834803|834804|834805|834806|834807|834808|834809|834810|834811|834812|834813|834814|834815|834816|834817|834818|834819|834820|834821|834822|834823|834824|834825|834826|834827|834828|834829|834830|834831|834832|834833|834834|834835|834836|834837|834838|834839|834840|834841|834842|834843|834844|834845|834846|834847|834848|834849|834850|834851|834852|834853|834854|834855|834856|834857|834858|834859|834860|834861|834862|834863|834864|834865|834866|851203|852140|852444|925210|925211|925212|925213|925214|925215|925216|925217|925218|925219|925220|925221|925222|925223|925224|925225|925226|925227|925228|925229|925230|925231|925232|934324|934325|934326|934327|934328|934329|934330|934331|934332|934333|934334|934335|934336|934337|934338|934339|934340|934341|934342|934343|934344|934345|934346|934347|934348|940107|940108|946087|946088|946089|946090|946091|946092|946093|946094|946095|946096|946097|946098|946099|946100|946101|946102|955431|955432|955433|955434|955435|955436|955437|955438|955439|955440|955441|955442|955443|955444|955445|955446|955447|955448|959895|959896|980461", + "text": "Immunodeficiency 26 with or without neurologic abnormalities" + }, + { + "baseId": "165475|226067|226068|969135", + "text": "Nanophthalmos 4" + }, + { + "baseId": "165513", + "text": "Kennedy disease)" + }, + { + "baseId": "165514|497221", + "text": "Deafness, autosomal recessive 102" + }, + { + "baseId": "165515|165516|919419", + "text": "Deafness, autosomal dominant 41" + }, + { + "baseId": "165521|165522|165523|980297|980349", + "text": "Cone-rod dystrophy 20" + }, + { + "baseId": "165524|538986|576117|918975", + "text": "Acromelic frontonasal dysostosis" + }, + { + "baseId": "165530|165571|486608|514051", + "text": "Disproportionate tall stature" + }, + { + "baseId": "165608|165609|308505|308514|308515|308519|308520|308522|308526|308533|308534|308535|308537|308538|308540|308546|308558|308560|308569|308570|312950|312951|312962|312963|312964|312965|312967|312970|312976|312977|312987|312988|312989|312991|312994|313000|318848|318849|318857|318865|318868|318869|318880|318881|318884|318888|318890|318891|318896|318897|318901|318903|319481|319482|319484|319500|319503|319507|319508|319509|319513|319533|319536|319537|319542|319546|611402|620813|711985|723587|737153|737154|902210|902214|902215|902216|902217|902218|902219|902220|902221|902222|902223|902224|902225|902226|902227|902228|902229|902230|902231|902232|902233|902234|902235|902236|902237|902238|902239|902240|902241|902242|902243|902244|902245|902246|902247|902248|902249|902250|902251|902252|902253|902254|902255|903417|903420|903421|903422|920274", + "text": "Dicarboxylic aminoaciduria" + }, + { + "baseId": "165628|363858|437976|441703|441707|578517|966897|971004", + "text": "Spinocerebellar ataxia 40" + }, + { + "baseId": "165645|166212|166213", + "text": "sporadic abdominal aortic aneurysm" + }, + { + "baseId": "165646|178808|513208|622025|622026|622027", + "text": "Familial partial lipodystrophy 6" + }, + { + "baseId": "165650", + "text": "Mental retardation, autosomal recessive 45" + }, + { + "baseId": "165692|789970", + "text": "Breasts and/or nipples, aplasia or hypoplasia of, 2" + }, + { + "baseId": "165720", + "text": "Aplasia cutis congenita (disease)" + }, + { + "baseId": "165834|185749|187252|361552|372476|373172|373174|373177|373192|373201|373407|373409|375357|375367|375382|408721|421946|437937|437938|445059|462380|462381|462391|462396|462397|462641|462647|463092|463108|463120|463122|463126|463131|463227|463228|463237|463239|463243|463248|463250|463256|504010|504025|504562|527308|527314|527316|527319|527590|527601|527606|527610|527831|527833|527835|540458|565643|565645|566974|566977|566979|566980|568144|568145|568150|571959|609852|623312|641303|641304|641305|641306|641307|641308|641309|641310|652336|682112|693254|693255|693256|702453|738798|778106|840139|840140|840141|840142|840143|840144|840145|905365|926689|926690|926691|936203|940273|941038|956911|960049", + "text": "Charcot-Marie-Tooth disease, axonal, type 2u" + }, + { + "baseId": "165836", + "text": "HPGD-Related Disorders" + }, + { + "baseId": "165849", + "text": "Bruxism" + }, + { + "baseId": "165849|360877|446889|514155", + "text": "Stereotypy" + }, + { + "baseId": "165902", + "text": "Hypodysfibrinogenemia" + }, + { + "baseId": "165903|203240|446446|551711", + "text": "developmental delay with seizures" + }, + { + "baseId": "165912|165913|165914|165915|165916|438236|453150|453156|453158|453159|453203|453569|453576|519616|519669|559233|559537|631812|631813|631814|631815|709073|720670|748574|828603|828604|828605|828606|828607|828608|923368|923369|932097|953603", + "text": "Severe congenital neutropenia 6, autosomal recessive" + }, + { + "baseId": "165912|165913|165914|165915|165916|171707|188298|188299|188300|276501|281295|281299|281300|281937|283195|283196|283207|283353|283368|344680|346087|794204|794205|794206|794207|794208|794209|799087|799088|800983|801231", + "text": "Severe congenital neutropenia" + }, + { + "baseId": "165951|430312|430316", + "text": "Hyperinsulinism due to HNF4A deficiency" + }, + { + "baseId": "165952|165953|178768", + "text": "MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3" + }, + { + "baseId": "165955|165956|363948|364179|467814|486796|568564|570661|570782|574443|574445|645824|704103|715398|715399|727122|727123|755801|755802|845244|845245|949889", + "text": "Hyperphosphatasia with mental retardation syndrome 5" + }, + { + "baseId": "165960", + "text": "Single ventricle" + }, + { + "baseId": "165960", + "text": "small Atrial septal defect" + }, + { + "baseId": "165961", + "text": "ungueal dystrophy" + }, + { + "baseId": "165961", + "text": "spino-cellular carcinoma" + }, + { + "baseId": "165961|514155", + "text": "Alopecia" + }, + { + "baseId": "165961", + "text": "dyschromatosis" + }, + { + "baseId": "165961", + "text": "CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA" + }, + { + "baseId": "166013|166014", + "text": "Ectodermal dysplasia/short stature syndrome" + }, + { + "baseId": "166016|166017", + "text": "Hypogonadotropic hypogonadism 22 with anosmia" + }, + { + "baseId": "166018|166019|260788|590284|623299|681807|818255|965925", + "text": "Focal segmental glomerulosclerosis 8" + }, + { + "baseId": "166020|247498|247499|247500|576292|576293|576294|590027|623369", + "text": "Mental retardation, X-linked 61" + }, + { + "baseId": "166022|166023|428328|963135|972785", + "text": "Microcephaly, short stature, and impaired glucose metabolism 1" + }, + { + "baseId": "166025|368464|369854|369861|446886|501559|521783|524398|565128|626180|633944|633945|633946|709901|721442|749478|782281|818631|830846|830847|924069|932909|944621|954172", + "text": "2,4-Dienoyl-CoA reductase deficiency" + }, + { + "baseId": "166084", + "text": "PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM" + }, + { + "baseId": "166086|166087|166088|166090|166093|166095|166096|166097|166098|166101", + "text": "Alloalbuminemia" + }, + { + "baseId": "166112|166113|408753|576352|656185|791278|961806", + "text": "Deafness, autosomal recessive 84" + }, + { + "baseId": "166142|166143|166144|308847|319276|319887|359755|525186|525188|565966|565974|638391|638392|712032|712033|723631|737203|767483|836277|836278|836279|902443|934825|955897|955898|964743|964744", + "text": "Neu-laxova syndrome 2" + }, + { + "baseId": "166145|166146|222780|230983|243280|243281|243282|243283|243284|243285|403138|403142|403143|403146|403150|403152|403159|403160|403167|403599|403602|403608|403620|403625|403626|403628|469319|469320|469727|470340|470352|470356|470357|470361|532653|532670|532671|532678|532681|533087|572879|572883|574860|574861|647629|647630|647631|647632|647633|647634|647635|647636|647637|653004|684779|694328|821299|847221|847222|847223|847224|852307|852948|928822|938560|938561|941223|950655|950656|960912", + "text": "Ciliary dyskinesia, primary, 30" + }, + { + "baseId": "166147|166148|918591|964141", + "text": "Myasthenic syndrome, congenital, 7, presynaptic" + }, + { + "baseId": "166149", + "text": "Charcot-Marie-Tooth disease, recessive intermediate d" + }, + { + "baseId": "166182|166183|166184|166185|166186|166192|187205|187206|187207|190125|190129|260850|414991|425622|428353|428354|428356|428357|443692|454720|454730|455177|455180|455183|455188|455453|481311|481451|481452|481725|488154|521049|521184|521236|521249|535289|550598|551772|560169|560270|560272|560274|560276|562863|562867|562878|562881|564817|564820|564828|564832|564833|579028|579115|612146|623231|633499|633500|633501|633502|633503|633504|633505|633506|633507|633508|633509|653866|678061|698824|698825|698826|698827|698828|698829|698830|698831|698832|698833|698834|698835|698836|698837|698838|698839|698840|698841|698842|698843|698844|698845|698846|698847|698848|709660|749262|749263|782187|790518|790519|798551|800667|815979|819560|830373|830374|830375|830376|830377|830378|830379|918923|923894|923895|923896|923897|932735|932736|932737|932738|944422|944423|954055|954056|954057|954058|963137|963571|964069|964718|964821|972716", + "text": "Mental retardation, autosomal dominant 31" + }, + { + "baseId": "166195|166196|166197|166198", + "text": "Mitochondrial complex 4 deficiency, nuclear type 17" + }, + { + "baseId": "166199", + "text": "Combined oxidative phosphorylation deficiency 22" + }, + { + "baseId": "166206|166207|185751|185752|215649|215650|353899|359810|364135|370650|384437|384438|407832|421784|444573|481236|481364|481365|481366|481367|481368|677430|678970|679768|679769|790946|790947|790948|790949|790950|790951|790952|858592|961042|961045|961785|969130|974519|974520", + "text": "Mitochondrial short-chain enoyl-coa hydratase 1 deficiency" + }, + { + "baseId": "166215|623005|623006|623013", + "text": "Glioblastoma multiforme, somatic" + }, + { + "baseId": "166215|623008|623014", + "text": "Oligodendroglioma" + }, + { + "baseId": "166215", + "text": "Metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria" + }, + { + "baseId": "166218|166219|166220|166221|166222|166224|363377", + "text": "Cowden syndrome 5" + }, + { + "baseId": "166303|167510|215090", + "text": "Early-onset parkinsonism-intellectual disability syndrome" + }, + { + "baseId": "166304|166305|166306|260231|360423|377076|377084|378076|378077|378082|378083|378110|378112|378114|378124|378277|378280|378293|378294|378312|378323|378326|379712|379713|379714|379715|379718|379719|379720|379721|404843|404844|410766|413604|422321|422322|446262|446266|469403|469411|470452|470457|470459|470460|470941|470948|470956|470958|471425|471427|507204|508206|508220|533568|533574|533622|533646|534143|534159|534161|535710|550642|571276|571278|571285|571290|571291|571295|571303|572927|572937|573569|573574|575114|575115|575116|614475|622051|622058|622063|648754|648755|648756|648757|648758|648759|648760|648761|648762|648763|648764|648765|648766|705541|728714|773153|773154|788939|791987|791988|816494|821333|821334|822159|822160|822161|822162|822163|822164|822165|822166|822167|822168|822169|822170|822171|822172|848466|848467|848468|848469|848470|848471|848472|848473|848474|848475|848476|848477|848478|858356|904943|929217|929218|929219|929220|929221|929222|938999|939000|939001|939002|939003|939004|939005|939006|939007|951120|951121|951122|951123|951124|951125|951126|951127|958856|958857|971146|971147|971148", + "text": "Epileptic encephalopathy, early infantile, 26" + }, + { + "baseId": "166346|166347|578377|626355|626356|626357|626358|626359|789934", + "text": "Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia" + }, + { + "baseId": "166347|177103|177947|181382|193745|195045|251311|263244|267620|268631|284995|286978|288841|292026|292032|292033|293465|296770|296771|296774|296776|296778|296779|296782|296783|296786|318059|318060|318062|325979|325984|325996|332232|333745|343631|343665|343666|361067|361069|513949|513961|514013|550314|613458|801079|889930|889931|889932|889933|889934|889935|889936|889937|889938|889939|889940|889941|889942|889943|889944|889945|889946|889947|889948|889949|889950|889951|889952|889953|889954|889955|889956|889957|889958|889959|889960|889961|889962|889963|889964|889965|889966|889967|889968|889969|889970|891736|891737|983725|983747", + "text": "Cataract (disease)" + }, + { + "baseId": "166347", + "text": "growth hormone deficiency with short stature" + }, + { + "baseId": "166347", + "text": "partial sensorineural deafness" + }, + { + "baseId": "166361|166362|166363|188140|225871|264472|361193|363965|369776|369794|370245|370250|370251|370252|370256|370261|370275|370280|370297|370565|370587|370589|370591|370605|372170|413797|421706|444365|458308|458321|458326|458819|458830|458869|458870|458872|458879|458883|459330|459332|486455|486749|502157|502170|502171|502909|502920|511029|511794|511796|523999|524004|524292|524307|524308|524312|524540|524543|524546|524602|524604|562789|562794|562796|562801|562810|563485|565533|565540|578355|579520|579762|614335|637726|637727|637728|637729|637730|637731|637732|637733|637734|637735|637736|651823|651871|751406|767107|767109|767110|767111|767113|767114|767115|775479|777974|783272|783274|783275|790842|815989|820069|820070|821959|821960|821961|821962|821963|821964|822262|822263|835504|835505|835506|835507|835508|835509|835510|835511|835512|835513|835514|835515|835516|852162|925386|925387|925388|934550|934551|946376|946377|946378|946379|946380|946381|946382|955691|955692|970892|970893|970894", + "text": "Epileptic encephalopathy, early infantile, 31" + }, + { + "baseId": "166366|166369", + "text": "Hypogonadotropic hypogonadism 3 without anosmia" + }, + { + "baseId": "166402|166403|578578", + "text": "Porokeratosis 8, disseminated superficial actinic type" + }, + { + "baseId": "166440|166441|404862|800377", + "text": "Ovarian dysgenesis 4" + }, + { + "baseId": "166525", + "text": "Severe underweight in infancy childhood and adolescence" + }, + { + "baseId": "166525|624117", + "text": "Psychomotor retardation" + }, + { + "baseId": "166581|166583|166588|166594|166597|166600|166605|166608|166615|166619|166624|166631|166643|166647|166651|166652|166653|166657|166661|166676|166679|166682|166688|166691|166709|166712|166718|166726|166746|166756|166760|166786|166787|166800|166802|166818|166819|166825|166835|166840|166842|166847|166848|166849|166853|166856|166858|166862|166863|166881|166883|166909|166919|166941|166942|166945|166947|166961|166965|166981|166986|166992|166993|166995|167007|167015|167017|167023|167035|167045|167058|167069|167084|167091|167092|167096|167099|167107|167127|167128|167139|167145|167153|167156|167158|167160|167162|167163|167165|167168|167171|167187|167190|167194|167208|167210|167219|167222|167226|167238|167240|167245|167246|167247|167248|167256|167261|167262|167265|167269|167271|167279|167280|167283|167295|167303|167317|167327|167333|167334|167336|223422|514002|514192|514215", + "text": "Large for gestational age" + }, + { + "baseId": "166584|166589|166590|166591|166596|166602|166605|166608|166615|166621|166626|166628|166633|166637|166640|166646|166647|166657|166660|166663|166670|166673|166676|166679|166681|166689|166691|166695|166696|166699|166701|166702|166706|166709|166714|166715|166716|166718|166729|166730|166734|166740|166743|166745|166746|166751|166753|166754|166756|166761|166762|166763|166766|166767|166768|166774|166775|166777|166778|166781|166782|166792|166794|166796|166801|166802|166815|166819|166823|166829|166830|166832|166835|166839|166840|166845|166846|166855|166860|166866|166869|166870|166871|166872|166873|166874|166875|166876|166877|166881|166885|166887|166890|166893|166895|166896|166898|166901|166905|166907|166909|166918|166920|166921|166922|166924|166925|166926|166929|166931|166932|166940|166943|166944|166947|166954|166959|166961|166963|166965|166966|166967|166982|166983|166989|166990|166991|166998|167006|167007|167011|167012|167014|167021|167025|167034|167035|167038|167039|167043|167045|167047|167048|167049|167050|167051|167056|167058|167062|167066|167074|167076|167078|167079|167092|167098|167105|167113|167114|167116|167117|167120|167121|167124|167129|167130|167132|167137|167142|167143|167148|167152|167157|167159|167161|167167|167169|167178|167180|167185|167186|167190|167196|167197|167200|167203|167206|167214|167216|167218|167228|167229|167231|167232|167234|167236|167240|167247|167248|167256|167259|167268|167270|167274|167280|167283|167290|167296|167301|167306|167308|167309|167311|167315|167316|167320|167321|167328|167331|167332|167336|167340|167341|223411|223422|223430", + "text": "Normal pregnancy" + }, + { + "baseId": "166585|166591|166593|166612|166615|166618|166622|166625|166629|166630|166632|166636|166639|166641|166645|166647|166656|166664|166668|166670|166678|166683|166686|166689|166694|166697|166698|166704|166706|166715|166716|166718|166728|166729|166734|166736|166737|166743|166746|166764|166765|166769|166771|166772|166778|166785|166790|166791|166795|166797|166799|166802|166806|166808|166809|166810|166814|166819|166826|166830|166832|166834|166835|166838|166840|166865|166877|166892|166894|166897|166899|166901|166903|166906|166909|166923|166932|166935|166937|166947|166952|166954|166956|166958|166967|166973|166974|166976|166979|166980|166987|166994|166997|167002|167003|167015|167020|167026|167029|167032|167035|167042|167057|167060|167061|167068|167069|167074|167082|167085|167086|167087|167088|167090|167092|167102|167103|167107|167118|167126|167131|167134|167137|167147|167148|167154|167155|167172|167176|167180|167184|167192|167194|167199|167200|167209|167225|167227|167230|167235|167237|167243|167244|167248|167254|167263|167275|167276|167289|167294|167296|167300|167302|167303|167313|167318|167324|167335", + "text": "Gestational diabetes mellitus uncontrolled" + }, + { + "baseId": "166587|166594|166603|166611|166613|166635|166638|166644|166647|166653|166655|166657|166661|166665|166669|166684|166685|166691|166705|166706|166709|166715|166716|166719|166728|166729|166737|166741|166746|166756|166759|166776|166784|166788|166806|166812|166813|166817|166819|166823|166826|166854|166859|166860|166867|166877|166878|166888|166891|166900|166903|166908|166909|166914|166916|166917|166928|166930|166932|166938|166946|166949|166950|166956|166960|166963|166966|166972|166977|166996|166998|167007|167018|167021|167023|167028|167040|167051|167055|167063|167064|167065|167067|167069|167077|167080|167092|167097|167104|167108|167110|167115|167124|167132|167135|167137|167144|167146|167150|167166|167172|167180|167189|167193|167198|167205|167206|167211|167213|167215|167217|167221|167224|167233|167239|167240|167248|167254|167256|167265|167272|167277|167280|167283|167287|167288|167290|167296|167303|167307|167312|167314|167319|167322|167325|167326|167330|167336|223543", + "text": "Preeclampsia" + }, + { + "baseId": "167355|167356|920198", + "text": "Primary autosomal recessive microcephaly 13" + }, + { + "baseId": "167357", + "text": "Inflammatory skin and bowel disease, neonatal, 2" + }, + { + "baseId": "167358", + "text": "Mirror movements 3" + }, + { + "baseId": "167369", + "text": "Primary autosomal recessive microcephaly 12" + }, + { + "baseId": "167379|167380|167381", + "text": "Neuroendocrine neoplasm" + }, + { + "baseId": "167389|263250|361005|440711|622268|861283|969269", + "text": "Spasticity" + }, + { + "baseId": "167409|167410|167411", + "text": "Laurin-Sandrow syndrome" + }, + { + "baseId": "167413|167414|167415|167416|167417|205263|227161|360917|380443|424615|424656|919265|961651|964341", + "text": "Mental retardation, autosomal dominant 30" + }, + { + "baseId": "167459", + "text": "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID" + }, + { + "baseId": "167465|440249|622491|920004|920005|964593|964594", + "text": "Intellectual disability, X-linked, syndromic, Houge type" + }, + { + "baseId": "167466", + "text": "Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities" + }, + { + "baseId": "167468|167469|539050|791343|802184|802185", + "text": "Pontocerebellar hypoplasia, type 1c" + }, + { + "baseId": "167472", + "text": "TYPE 2 DIABETES MELLITUS 5, SUSCEPTIBILITY TO" + }, + { + "baseId": "167473|167474|167475|167475|167476|167477|167478|236731|367083|367089|367090|368385|389592|406178|452052|452316|482270|500170|500178|500184|519236|519250|519251|519254|561367|631147|631148|631149|631150|631151|631152|631153|631154|631155|631156|631157|631158|631159|631160|631161|631162|631163|631164|631165|631166|651053|651169|679744|698029|698030|698031|698032|708785|720394|730207|816310|819365|827870|827871|827872|827873|827874|827875|827876|827877|827878|827879|827880|827881|827882|827883|827884|827885|827886|827887|827888|827889|827890|827891|827892|827893|850924|918827|923132|923133|923134|923135|923136|923137|923138|931884|931885|931886|931887|943464|943465|943466|943467|943468|943469|943470|943471|943472|943472|943473|953424|953425|953426|953427|953428|953429", + "text": "Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay" + }, + { + "baseId": "167475|236729|236730|236731|236732|816310|943472", + "text": "Retinitis pigmentosa and erythrocytic microcytosis" + }, + { + "baseId": "167501|167502|178316|372621|372623|372638|372644|372648|373314|373319|373320|373327|373597|373602|375517|375518|408802|445120|462570|462573|462574|462578|462592|462593|462862|462870|462875|462877|462879|462883|463337|463339|463341|463352|463357|463364|463369|463377|463457|463459|463461|463463|463464|463467|463470|463479|504710|512056|512057|512058|527464|527467|527471|527495|527499|527501|527737|527739|527743|565861|565863|565865|565868|567181|567184|567186|568257|568260|568261|568263|568266|572205|576157|626220|641558|641559|641560|641561|641562|641563|641564|641565|641566|641567|641568|641569|641570|641571|641572|641573|641574|641575|641576|656195|702599|702600|713832|713833|725375|730898|738952|744759|753719|760285|769408|769411|787808|820544|820545|820546|840541|840542|840543|840544|840545|840546|840547|840548|840549|840550|840551|840552|840553|840554|840555|840556|840557|840558|840559|840560|840561|840562|840563|840564|840565|840566|840567|840568|840569|840570|840571|840572|840573|840574|851963|851965|852706|852708|926803|926804|926805|926806|926807|926808|926809|926810|926811|926812|936335|936336|936337|936338|936339|936340|936341|936342|936343|936344|936345|936346|936347|936348|936349|936350|936351|936352|940277|941047|948260|948261|948262|948263|948264|948265|948266|948267|948268|948269|948270|948271|957021|957022|957023|957024|957025|957026|960071|961240", + "text": "Combined oxidative phosphorylation deficiency 27" + }, + { + "baseId": "167590|167593|167595|167597|167601|167605|167608|167609|167612|167614", + "text": "epileptic encephalopathy, early infanitle, 1" + }, + { + "baseId": "167927|170213|170214", + "text": "Monocarboxylate transporter 1 deficiency, autosomal recessive" + }, + { + "baseId": "167930|167933|167936|170215|170216", + "text": "Monocarboxylate transporter 1 deficiency, autosomal dominant" + }, + { + "baseId": "167939", + "text": "Palmoplantar keratoderma and woolly hair" + }, + { + "baseId": "168042|168046|168047|168048|168053|194308|271236|273839|274119|274667|285391|286034|288354|288356|288357|288358|288359|288775|288783|427998|428000|428001|428002|430990|491568|538965|585621|586242|587512|588639|733280|884201|884202|884203|884204|884205|884206|884207|884208|884209|884210|884211|884212|884213|884214|884215|884216|884217", + "text": "Crigler-Najjar syndrome" + }, + { + "baseId": "168060|206986|206992|285585|286315", + "text": "D-2-hydroxyglutaric aciduria" + }, + { + "baseId": "168105|168107", + "text": "Malformation of the heart and great vessels" + }, + { + "baseId": "168166|168191|195012|297027|297047|297083|298909|298925|298999|303194|303203|303206|303222|303407|303412|303413|303415|303426|964105", + "text": "Sotos syndrome" + }, + { + "baseId": "168168|263193|263281|590070", + "text": "18 conditions" + }, + { + "baseId": "168552|513559|538953|578439", + "text": "Febrile seizures, familial, 1" + }, + { + "baseId": "168576", + "text": "EZH2-related disorder" + }, + { + "baseId": "168624|205031|243985|263296|263364|361003|361041|485953|513907|626445|626446|626447|742154|805068|805101|805102|861055|861056|905848", + "text": "Ventricular septal defect" + }, + { + "baseId": "168800|168804", + "text": "Brachydactyly, type B1Robinow syndrome, autosomal recessive" + }, + { + "baseId": "168841|168842|168843|168844|168845|168846|168847|168848|168849|207789|315788|429121|430995|495467|679093|679094|679095|679188|752193|866044|866045|866046|866047|866048|866049|866050|866051|866052|866053|866054|866055|866056|866057|866058|866059|866060|866061|866062|866063|866064|866065|866066|866067|866068|866069|866070|866071|868484|868485|963073", + "text": "Goldberg-Shprintzen megacolon syndrome" + }, + { + "baseId": "169007|801184", + "text": "Decreased head circumference" + }, + { + "baseId": "169016|169039|190891|192899|289000|289757|289779|289781|292804|292808|292867|293072|319325|319332|327852|327862|334164|334169|335745|335746|335794|335803|335834|340750|340754|347942|497068|578412", + "text": "Seckel syndrome" + }, + { + "baseId": "169192|208245|226386|271568|429774", + "text": "NDE1-related microhydranencephaly" + }, + { + "baseId": "169548|169570|171228|171230|171233|171241|171242|171244|179700|676957|676970|682183|974511|974512", + "text": "Congenital myopathy" + }, + { + "baseId": "169564", + "text": "Multi-minicore disease and atypical periodic paralysis" + }, + { + "baseId": "169692|351957|351958|351959|351988|352002|352006|352007", + "text": "Microcephalic osteodysplastic primordial dwarfism" + }, + { + "baseId": "169841|590085|801184|965474", + "text": "Sleep disturbance" + }, + { + "baseId": "169841|590085", + "text": "Paroxysmal choreoathetosis" + }, + { + "baseId": "170183", + "text": "Decreased activity of the pyruvate dehydrogenase complex" + }, + { + "baseId": "170189", + "text": "Skin/hair/eye pigmentation, variation in, 8" + }, + { + "baseId": "170190|448249|448384|448386|448440|516093|558599|628272|628273|628274|762092|774561|780772|787062|824427|824428|824429|850814|922163|922164|930665|930666|930667|942105|942106", + "text": "Immunodeficiency 37" + }, + { + "baseId": "170198", + "text": "Hydroxykynureninuria" + }, + { + "baseId": "170210|501748|539001", + "text": "Deafness, autosomal recessive 103" + }, + { + "baseId": "170213|788722", + "text": "Monocarboxylate transporter 1 deficiency" + }, + { + "baseId": "170219|170220", + "text": "Psoriasis 15, pustular, susceptibility to" + }, + { + "baseId": "170953|170954|170955|170956|170957|170958|424446|424447|425459|425459|450276|450400|450403|450428|450526|486606|517539|517642|517650|517656|517659|517793|557818|557820|557822|557867|557869|559049|560545|560547|612437|629309|629310|629311|629312|629313|629314|629315|629316|733077|747175|781114|799281|819104|819105|825605|825606|825607|825608|825609|825610|825611|825612|825613|850827|851388|922522|922523|922524|922525|931080|940687|942566|942567|942568|942569|952889|959623|960461|961933|961992", + "text": "Autoimmune lymphoproliferatiVe syndrome, type V" + }, + { + "baseId": "170959|170960", + "text": "Retinal dystrophy, juvenile cataracts, and short stature syndrome" + }, + { + "baseId": "170964", + "text": "Mitochondrial complex III deficiency, nuclear type 9" + }, + { + "baseId": "171000|203766|263200", + "text": "Epicanthus" + }, + { + "baseId": "171000|263200", + "text": "Abnormality of earlobe" + }, + { + "baseId": "171000", + "text": "Depressed nasal bridge" + }, + { + "baseId": "171004|404670|455456|455458|455557|456066|456283|456294|456302|493774|501577|560523|560668|584282|585186|585191|586446|586503|634783|634784|699477|790606|792758|831759|831760|831761|933255", + "text": "Deafness, autosomal recessive 66" + }, + { + "baseId": "171038|205371|205372|800382|800383|800384", + "text": "Premature ovarian failure 10" + }, + { + "baseId": "171039|171040|171041|171042|171043|215675|215676|215677|215678|513493|679589", + "text": "Spinocerebellar ataxia type 21" + }, + { + "baseId": "171057|171058|171061|172475|189194", + "text": "Polymorphic ventricular tachycardia" + }, + { + "baseId": "171072|171183|209432", + "text": "Aortic aneurysm" + }, + { + "baseId": "171075|415173|613502|614549|961028|962031", + "text": "Ehlers-Danlos syndrome" + }, + { + "baseId": "171109|171110|171111|171112|171113|172175", + "text": "Haemorrhagic telangiectasia 1" + }, + { + "baseId": "171120", + "text": "Early repolarization associated with ventricular fibrillation" + }, + { + "baseId": "171152|171153|171154|171155", + "text": "Haemorrhagic telangiectasia 2" + }, + { + "baseId": "171166|287195|287915|320711|329513|329573|336164|336174|338040|353302", + "text": "Dystonia, dopa-responsive" + }, + { + "baseId": "171167", + "text": "Hyperphenylalaninemia due to tetrahydrobiopterin deficiency" + }, + { + "baseId": "171175", + "text": "Marfan syndrome, incomplete" + }, + { + "baseId": "171185", + "text": "Altered myosin contractile function" + }, + { + "baseId": "171227|171235|208586|626272", + "text": "Myopathy, RYR1-associated" + }, + { + "baseId": "171229|171236", + "text": "Malignant hyperthermia and exertional rhabdomyolosis" + }, + { + "baseId": "171232", + "text": "Malignant hyperthermia equivocal with halotane" + }, + { + "baseId": "171236|361886|410595", + "text": "RYR1-Related Disorder" + }, + { + "baseId": "171238|171239", + "text": "Axial myopathy, late-onset" + }, + { + "baseId": "171240", + "text": "Muscular dystrophy and arthrogryposis" + }, + { + "baseId": "171247", + "text": "Exertional myalgia, muscle stiffness and myoglobinuria" + }, + { + "baseId": "171252|171253|171254|171255|227282|428365|438309|443730|538373|538374", + "text": "Mental retardation, autosomal recessive 46" + }, + { + "baseId": "171257", + "text": "Polyendocrine-polyneuropathy syndrome" + }, + { + "baseId": "171266|171267|171268|171269", + "text": "cerebellar-facial-dental syndrome" + }, + { + "baseId": "171266|171267|171268|171269|677444|677445", + "text": "Cerebellofaciodental syndrome" + }, + { + "baseId": "171280|259816|414996|480762|480763|480764|480765|821907|918939|961274|961275|961605|964249|970801|972809", + "text": "Epileptic encephalopathy, infantile or early childhood 2" + }, + { + "baseId": "171283|581245|581246|614541|918648", + "text": "Cardiac conduction disease with or without dilated cardiomyopathy" + }, + { + "baseId": "171288|171289|181485|446936|446939|446981|446987|514865|514896|514926|556509|556512|626468|626469|626470|626471|626472|626473|626474|626475|626476|626477|745491|745492|818829|818830|822358|903498|921534|929889|929890|941322|941323|951980|960396", + "text": "Immunodeficiency 38 with basal ganglia calcification" + }, + { + "baseId": "171705|171706|171707|204572|206797|243939|249882|249883|249884|249887|249888|249889|249890|249891|425368|425369|427800|427801|427804|427805|427809|427810|427811|447869|448028|448165|515840|515842|515848|515870|515877|515878|515880|515962|556531|557045|557047|557049|557262|557264|558495|558497|558499|614217|614218|627808|627809|627810|627811|627812|627813|627814|627815|627816|627817|627818|627819|627820|627821|627822|627823|650658|707388|707389|718949|730001|732417|732418|732419|746455|746456|746457|761898|761899|761900|800983|823927|823928|823929|823930|823931|823932|823933|823934|823935|823936|823937|823938|823939|823940|823941|823942|823943|823944|823945|918635|922005|922006|922007|922008|922009|930481|930482|941927|941928|941929|941930|941931|941932|941933|952400|952401|952402|952403|952404", + "text": "Neutropenia, severe congenital, 7, autosomal recessive" + }, + { + "baseId": "171728|171729|171730|171731|171732", + "text": "Paternal uniparental disomy of chromosome 14" + }, + { + "baseId": "171761|171762|359201|612617|622991|654719", + "text": "Stickler syndrome" + }, + { + "baseId": "171767|171768|171769|171770|211429|481146|682322", + "text": "Perrault syndrome 5" + }, + { + "baseId": "171783|171784|171785", + "text": "Mesoaxial synostotic syndactyly with phalangeal reduction" + }, + { + "baseId": "171796|171797|171798|171799|171800|260554|354262|368072|368366|966051", + "text": "Leukodystrophy, hypomyelinating, 9" + }, + { + "baseId": "171806|171807|171808|205009|215062|215063|367150|368164|578409|790320|790321|790322|790323|798518|798519|798520|903519|906376|918793", + "text": "Dyskinesia, familial, with facial myokymia" + }, + { + "baseId": "171811|255744|255745|293417|294628|294630|294633|294634|294636|294637|294640|294641|294645|294649|294651|294655|294658|294660|294666|294667|296136|296144|296145|296153|296179|296195|296211|299848|299856|299859|299868|299878|299881|299888|299890|299903|299912|299913|299916|299919|299923|299924|299930|299932|299935|299943|299944|299952|299953|299956|299958|299959|299963|299964|299966|299973|299975|299976|299977|299978|325355|325357|325358|332363|335034|335036|335039|341491|341499|341504|342991|342992|342995|342996|342998|343001|343005|343006|353674|620776|691637|691638|892507|892508|892509|892510|892511|892512|892513|892514|892515|892516|892517|892518|892519|892520|892521|892522|892523|892524|892525|892526|892527|892528|892529|892530|892531|892532|892533|892534|892535|892536|896006|896007", + "text": "Parkinson Disease, Dominant" + }, + { + "baseId": "171848|171849|171850|171851", + "text": "Macular dystrophy, vitelliform, 4" + }, + { + "baseId": "171866|171867|171874", + "text": "Absent or delayed speech development" + }, + { + "baseId": "171866|171867|243985|263200|263355|361071|679509|679510|679511|679512|679513", + "text": "Feeding difficulties" + }, + { + "baseId": "171866|189154|263234|859391", + "text": "Generalized seizures" + }, + { + "baseId": "171894|172292|178417|178418|178847|260442|264380|353897|438896|481817|514570|539011|550362|550607|550608|579357|589839|608878|611467|615239|622391|626176|679827|790801|798598|798599|806379|816467|964302|964923|970881|972721|973102|976655|976656", + "text": "Mental retardation, autosomal dominant 32" + }, + { + "baseId": "171907|171908", + "text": "Aortic aneurysm, familial thoracic 9" + }, + { + "baseId": "171911|171912|171913|171914|171915|171916|188238|188239|188240|188241|247600|247601|247602|247606", + "text": "Burn-McKeown syndrome" + }, + { + "baseId": "171920|171921|171922|724328|788848|961786", + "text": "Peroxisomal fatty acyl-coa reductase 1 disorder" + }, + { + "baseId": "171923|171924|171925|171926|171927|215293|361384|361385|425577|428210|428211|451561|452760|452763|452764|452765|452766|452768|452772|452782|452784|452786|453123|453128|453136|453139|453140|453141|453143|453145|453152|453162|453166|453169|453171|453180|453182|453184|453493|453494|453505|453507|453511|453516|453520|453522|453525|453538|453539|453547|453550|453552|453556|519592|519594|519595|519663|519863|519883|519884|519885|519889|519894|519898|519899|559185|559672|559674|559676|561803|561813|563302|563308|563311|563312|631780|631781|631782|631783|631784|631785|631786|631787|631788|631789|631790|631791|651130|679952|679953|686463|691481|691483|691484|698280|698282|734286|781800|828549|828550|828551|828552|828553|828554|828555|828556|828557|828558|828559|828560|828561|828562|828563|828564|828565|828566|923346|923347|923348|923349|923350|923351|923352|923353|932081|932082|932083|932084|932085|943699|943700|943701|943702|943703|953587|953588|953589|953590|953591", + "text": "Nemaline myopathy 10" + }, + { + "baseId": "171928|171929|171930|188138|429367|980846", + "text": "Thrombocytopenia 5" + }, + { + "baseId": "172081|172082|172083|172085|201742|201746|201752|614274", + "text": "Macular dystrophy with central cone involvement" + }, + { + "baseId": "172087|172088|172089|172090|172091|172092|792721|972780", + "text": "Filippi syndrome" + }, + { + "baseId": "172094|172095|181391|921215|935743|980342", + "text": "Polycystic liver disease 4 with or without kidney cysts" + }, + { + "baseId": "172096", + "text": "POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS" + }, + { + "baseId": "172097", + "text": "Platelet-type bleeding disorder 19" + }, + { + "baseId": "172098|172099|172100|172101|172102|260112|364006|464840|465651|466371|466390|466396|466397|466401|466637|529923|529924|529931|530005|530010|530011|530432|530436|530441|570119|570129|574041|577544|613033|644605|644606|644607|644608|644609|644610|644611|644612|644613|652846|653017|653020|653263|703654|726607|726608|755138|755139|770872|791585|798698|798699|802012|843760|843761|843762|843763|843764|843765|843766|843767|843768|843769|852111|852656|852658|852819|920361|927782|927783|937416|949371|949372|949373|957735|957736|960154|960155|960156", + "text": "Generalized epilepsy with febrile seizures plus, type 9" + }, + { + "baseId": "172103|172104", + "text": "Microcephaly and chorioretinopathy, autosomal recessive, 2" + }, + { + "baseId": "172121", + "text": "Leptin dysfunction" + }, + { + "baseId": "172130|172131|172132|172133|172134|172135|966395|966396|966397|966398", + "text": "Catel Manzke syndrome" + }, + { + "baseId": "172139|172140|172141|172142|172143|172144", + "text": "Aldosterone-producing adrenal cortex adenoma" + }, + { + "baseId": "172146|172147|172148|172149|172150|172151|172152|172153|172154|172155|172156|172157|172158|172159|172160|214763|214765|352059|438582|792122", + "text": "Deafness, X-linked 5" + }, + { + "baseId": "172164|792613", + "text": "Retinal dystrophy and obesity" + }, + { + "baseId": "172170", + "text": "Lacrimal duct defect" + }, + { + "baseId": "172185|172186|172187|172188|172189|172190|172191|255889|466018|466721|466723|467002|467005|530361|530563|530778|570496|645006|652665|693934|820885|844360|927962|949589|949590", + "text": "Ayme-gripp syndrome" + }, + { + "baseId": "172192|215431|441418|460935|460938|460939|460945|461027|461032|461034|461316|461321|461324|461328|461345|461346|461751|461752|481404|526007|526059|526065|526066|526067|526076|526077|526141|526143|526144|526150|526153|526506|526508|526512|526515|564515|564518|564523|564525|564527|565569|565572|565574|565577|567099|567100|567101|567113|567114|567116|570411|570413|570421|579718|639845|639846|639847|639848|639849|639850|639851|679776|712747|724341|724342|737904|752601|752603|768368|768369|768370|768373|802001|820345|838159|838160|838161|838162|838163|838164|838165|838166|838167|838168|838169|838170|838171|838172|838173|917083|919344|919345|919346|919347|926164|926165|926166|935449|935450|935451|935452|935453|947377|947378|947379|947380|970931", + "text": "Epilepsy, progressive myoclonic 7" + }, + { + "baseId": "172193|172193|172194|172195|172196|263996|578375|676935", + "text": "Temple-Baraitser syndrome" + }, + { + "baseId": "172193|172193|181517|181518|181519|181520|181521|181522|263996|578375|918595|918596", + "text": "Zimmermann-Laband syndrome 1" + }, + { + "baseId": "172283|172284|421230|626105|679039", + "text": "Mental retardation, autosomal recessive 47" + }, + { + "baseId": "172292|178380|178847|328813|328823|328826|328846|328848|328852|328853|328862|328871|328876|328886|328887|328892|328893|338815|338817|338819|338821|338828|338833|338843|338846|338852|338857|338860|338861|338864|338872|338877|338883|338885|338887|338915|338918|344859|344868|344882|344884|344898|344906|344907|344927|344930|346223|346226|346251|346252|346253|346256|346265|346267|346272|353443|353444|420148|424651|622210|858617|965287|965292", + "text": "Syndromic intellectual disability" + }, + { + "baseId": "172295", + "text": "Gillessen-Kaesbach-Nishimura dysplasia" + }, + { + "baseId": "172305", + "text": "Chronic atrial and intestinal dysrhythmia" + }, + { + "baseId": "172315|172315|172316|172317|172317|172318|172319|366990|366994|368248|500572|518913|519128|538972|562485|562493|630982|630983|630984|654315|827613|827614|918806|931798|943367|953362", + "text": "Polyglucosan body myopathy 2" + }, + { + "baseId": "172322|172323|221321|518637|677995", + "text": "Congenital heart defects, hamartomas of tongue, and polysyndactyly" + }, + { + "baseId": "172323|209332|677995|906242|906289", + "text": "Orofaciodigital syndrome" + }, + { + "baseId": "172604|228525", + "text": "Autosomal dominant hypohidrotic ectodermal dysplasia" + }, + { + "baseId": "172928", + "text": "ACTN2-related disorders" + }, + { + "baseId": "174350", + "text": "EYA4-Related Disorders" + }, + { + "baseId": "174363", + "text": "COL11A2- Related Disorder" + }, + { + "baseId": "174394|174395|174533|174534|304873|308593|308600|308601|313748|313768|313769|313803|313804|313861|313869|313878|353833", + "text": "Pulmonary Surfactant Metabolism Dysfunction, Dominant" + }, + { + "baseId": "174394|174395|174533|174534|191720|290057|290068|290121|290793|290900|294466|294471|294510|294514|294538|308600|308601|313748|313803|313804|313806|313869|313871|313878|317967|317979|327468|327473|328093|328424|329345|329393|332645|332647|332648|337343|338383|340987|343611|344449|345113|345864|345866|353323|353324|353833|365080|365083|365084|365092|365094|365167|365174|365182|365254|365272|414799|421243|433772|447899|447903|447904|447911|448057|448071|448116|448118|448227|488684|515872|515927|515997|619999|620000|627850|864414|864415|864416|864417|864419|864421|864422|864424|864425|864427|864430|864431|864433|864434|864435|864436|865180|865181|865182|865183|865184", + "text": "Osteogenesis Imperfecta, Recessive" + }, + { + "baseId": "175345|528518", + "text": "Malignant germ cell tumor of ovary" + }, + { + "baseId": "175405|258727", + "text": "ABCC9-Related Disorders" + }, + { + "baseId": "175458|360837|360838|362134", + "text": "Dyspnea" + }, + { + "baseId": "175969|237629", + "text": "Deafness, autosomal dominant 16" + }, + { + "baseId": "176408", + "text": "Vitelliform macular dystrophy 1" + }, + { + "baseId": "176639", + "text": "USH1G-Related Disorders" + }, + { + "baseId": "176733|344674|349635|349640|349645|349648|349657|349678|350651|350661|350674|350678|353581|514276|612109", + "text": "Arteriohepatic dysplasia" + }, + { + "baseId": "176758", + "text": "Childhood ganglioglioma" + }, + { + "baseId": "176785|513989", + "text": "Dural ectasia" + }, + { + "baseId": "176785|513903|513989", + "text": "Venous malformation" + }, + { + "baseId": "176785|513989", + "text": "Abnormality of digit" + }, + { + "baseId": "176924|178142|181536|275973|275974|275979|275984|275985|275990|275992|275993|276005|276006|276011|276018|276019|276020|276023|276024|276030|276031|276037|276052|276053|276186|276189|276198|276199|276201|276202|276204|276205|276221|276222|276230|276231|276234|276235|276236|276244|276246|276247|276248|276251|276252|276256|276257|276261|276262|276263|276316|276323|276331|276335|276336|276337|276339|276364|276379|276383|276384|276385|276388|276393|276394|276395|276396|276397|276398|276406|276408|276409|276410|276434|276435|276437|276446|276447|276450|276453|276454|276457|276458|276460|276461|276462|276463|276478|276479|276480|276483|276489|276491|276492|276493|276494|276503|276508|276517|276525|276526|276527|276533|276537|276549|276563|276564|438861|439303|696006|706602|718118|731600|731602|862015|862016|862017|862018|862019|862020|862021|862022|862023|862024|862025|862026|862027|862028|862029|862030|862031|862032|862033|862034|862035|862036|862037|862038|862039|862040|862041|862042|862043|862044|862045|862046|862047|862048|862049|862050|862051|862052|862053|862054|862055|862056|862057|862058|862059|862060|862061|862062|862063|862064|862065|862066|862067|862068|862069|862070|862071|862072|862073|862074|862075|862076|862077", + "text": "Caudal regression sequence" + }, + { + "baseId": "176988", + "text": "Inflammatory bowel disease 13" + }, + { + "baseId": "176988|227763", + "text": "ondansetron response - Efficacy" + }, + { + "baseId": "176988|227752|538603", + "text": "simvastatin response - Efficacy" + }, + { + "baseId": "177220|181445|354301|360916|361783|361784|361786|361787|361788|375817|442819|514150|514159|514160|537303|556459|800989|961430|961431|961432|961433|961434|961435", + "text": "Optic atrophy" + }, + { + "baseId": "177240|186055", + "text": "Abnormality of the intrahepatic bile duct" + }, + { + "baseId": "177312", + "text": "X-linked intellectual disability" + }, + { + "baseId": "177428", + "text": "Guanidinoacetate methyltransferase (GAMT) deficiency" + }, + { + "baseId": "177497|276791|276848|276849|276850|277130|277705|277709|277816|349939|349942|654885|967146", + "text": "Alternating hemiplegia of childhood" + }, + { + "baseId": "177728|205682|205683|205684|209003|404852|424905|430767|538287|611447|964596|976682|976683|976684", + "text": "Autism, susceptibility to, X-linked 4" + }, + { + "baseId": "177897", + "text": "Ocular impairment" + }, + { + "baseId": "177923|289467|289492|292684|292690|295405|299220|353650", + "text": "Congenital Stationary Night Blindness, Dominant" + }, + { + "baseId": "177947|181382|193745|195045|251311|267620|292026|292033|293465|296770|296774|296776|296778|296779|296782|296783|296786|550314|889930|889931|889932|889933|889934|889935|889936|889937|889938|889939|889940|889941|889942|889943|889944|889945|889946|889947|889948|889949|889950|889951|889952|889953|889954|889955|889956|889957|889958|889959|889960|889961|889962|889963|889964|889965|889966|889967|889968|889969|889970|891736|891737", + "text": "Hypoplasia of the iris" + }, + { + "baseId": "177947|181382|251311|267620|292032|296770|296771|296782|296786|359074|459553|459568|459812|492837|564449|628138|628139|628140|628142|638655", + "text": "Anterior segment dysgenesis 1" + }, + { + "baseId": "177947|181382|193745|195045|251311|267620|292026|292032|292033|293465|296770|296771|296774|296776|296778|296779|296782|296783|296786|550314|889930|889931|889932|889933|889934|889935|889936|889937|889938|889939|889940|889941|889942|889943|889944|889945|889946|889947|889948|889949|889950|889951|889952|889953|889954|889955|889956|889957|889958|889959|889960|889961|889962|889963|889964|889965|889966|889967|889968|889969|889970|891736|891737", + "text": "PITX2-Related Eye Abnormalities" + }, + { + "baseId": "178047", + "text": "Autosomal dominant SCN1A-related disorder" + }, + { + "baseId": "178055|178058|191370|273736|282565|282582|282594|283206|283227|283258|283259|283267|283293|283322|284810|284837|285292|285305|285321|285329|285355|285356|285364|285367", + "text": "Congenital Indifference to Pain" + }, + { + "baseId": "178058|191370|273736|282565|282594|283206|283227|283258|283267|283293|283322|284810|285355|285356", + "text": "Familial febrile seizures" + }, + { + "baseId": "178171|190059", + "text": "Pituitary adenoma, growth hormone-secreting, 2" + }, + { + "baseId": "178312|178313|178314|178315|244005|418553|481391|788772|918521", + "text": "Spinocerebellar ataxia, autosomal recessive 18" + }, + { + "baseId": "178326|918670", + "text": "Hypogonadotropic hypogonadism 15 with or without anosmia" + }, + { + "baseId": "178365|178366|178367|178369|178370", + "text": "Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia" + }, + { + "baseId": "178368", + "text": "Amyotrophic lateral sclerosis 22 with frontotemporal dementia" + }, + { + "baseId": "178380|178381", + "text": "Alazami-Yuan syndrome" + }, + { + "baseId": "178407|178408|200688|200688|200689|200689|378642|469914|469920|469926|469931|469933|470842|470915|471374|471379|471382|471799|508104|534074|534081|534085|534165|534606|571718|573279|573283|573287|573956|573958|573964|649209|649210|649211|649212|649213|649214|649215|649216|653271|653686|694692|705821|776953|786560|821403|849084|849085|849086|849087|849088|929410|939211|939212|939213|960960", + "text": "Spinal muscular atrophy, jokela type" + }, + { + "baseId": "178411|190570|202181|203766|211086|215118|225802|225802|225802|225802|263190|263260|263262|263282|263307|263324|263325|263326|263327|263328|263330|263331|263357|263375|263388|361081|430979|514017|514162|514320|514321|514322|514323|514325|514326|514328|514329|514330|514331|514333|514334|514335|514336|539432|550127|576328|581716|590061|619844|626018|626019|802091|805066|822302|921237|921238|921239|921241|921242|921243|921253|921255|921257|921258|921259|921448|965493|965570|965574|965578|966049|971452|971454|976699|980514|980662|980684|980687|980698", + "text": "Autistic behavior" + }, + { + "baseId": "178412|178416|362591|362592|362593|362594|431934|861144|970520", + "text": "Dysmorphic features" + }, + { + "baseId": "178413", + "text": "generalized epilepsy with atypical absence seizures" + }, + { + "baseId": "178413|178414|178415", + "text": "tremors" + }, + { + "baseId": "178414", + "text": "generalized epilepsy with atypical absence and tonic/myoclonic seizures" + }, + { + "baseId": "178417|178418|816467|963652|963653|963655", + "text": "KAT6A syndrome" + }, + { + "baseId": "178441|178493|178598|178708|178758|224301", + "text": "Arterial dissection" + }, + { + "baseId": "178449|178483", + "text": "Diastolic dysfunction" + }, + { + "baseId": "178505", + "text": "Familial abdominal aortic aneurysm 1" + }, + { + "baseId": "178532", + "text": "Channelopathy" + }, + { + "baseId": "178551", + "text": "Subvalvular aortic stenosis" + }, + { + "baseId": "178663", + "text": "AV Block Third Degree Adverse Event" + }, + { + "baseId": "178708", + "text": "Cutaneous polyarteritis nodosa" + }, + { + "baseId": "178762", + "text": "Trifascicular block on electrocardiogram" + }, + { + "baseId": "178768", + "text": "Fatal infantile mitochondrial cardiomyopathy" + }, + { + "baseId": "178780|178781|178782|178783|178784|178785|481393|481394|481395|481396|681812|681813|788923|919840|919841|961346", + "text": "Combined oxidative phosphorylation deficiency 23" + }, + { + "baseId": "178798|178799|178800|178801|178802|178803", + "text": "Lissencephaly 6, with microcephaly" + }, + { + "baseId": "178813|638465|918014|962617|966641|966642|966643|966644|966645|966646|966647|966648|966649|966650|966651|966652|966653|966654|966655|966656|966657|966660|966661|966662|966663|983679", + "text": "Pituitary stalk interruption syndrome" + }, + { + "baseId": "178823|178824|178825|178826|538488|788932|802227|802228|816006|816007|919896|919897|920413", + "text": "CODAS syndrome" + }, + { + "baseId": "178827|178828|178829|178830|188289|216922|216923|377022|429761|429762|429763|429764|429765|429766|429767|429768|429769|429771|465728|465921|465924|529468|529789|529789|530043|530047|567680|569539|569975|569989|573715|619853|643922|643923|643924|643925|643926|643927|643928|643929|643930|643931|643932|643933|643934|643935|652689|653219|714737|714738|714739|714740|726435|726436|739961|739962|744886|754902|754908|754912|760259|779752|791523|791524|791524|818786|820766|843113|843114|843115|843116|843117|843118|843119|843120|843121|843122|843123|843124|852625|927565|927566|927567|927568|937221|937222|937223|937224|937225|937226|941111|941112|949168|949169|949170|949171|949172|949173|949174|949175|957628|960132|960133|961622", + "text": "Dyskeratosis congenita, autosomal recessive 6" + }, + { + "baseId": "178841|802251|802252|802253|802254|802255|980948", + "text": "Juvenile arthritis due to defect in LACC1" + }, + { + "baseId": "178848|178849|178850|178851", + "text": "Amelogenesis imperfecta, type IH" + }, + { + "baseId": "178852|178853|178854|513568|792758|906246", + "text": "Nephronophthisis 19" + }, + { + "baseId": "178852|178853|404667|404668|404669|404670|404670|455456|455458|455557|456066|456283|456294|456302|493774|501577|560523|560668|584282|585186|585191|586446|586503|634783|634784|699477|792758|831759|831760|831761|933255|961848", + "text": "Sclerosing cholangitis, neonatal" + }, + { + "baseId": "178855|178856|178857", + "text": "Fibrosis of extraocular muscles, congenital, 5" + }, + { + "baseId": "178858", + "text": "Premature coronary artery disease" + }, + { + "baseId": "178864|178865|178866|178867|178868|513074|513075|513076|818261|818262|818263|962721|962722", + "text": "Focal segmental glomerulosclerosis 9" + }, + { + "baseId": "178869|178871|178872|536756", + "text": "Ventriculomegaly with cystic kidney disease" + }, + { + "baseId": "178886|178887|178888|178889", + "text": "Cataplexy and narcolepsy" + }, + { + "baseId": "178906|205536", + "text": "Cavitary optic disc anomalies" + }, + { + "baseId": "180112|682317", + "text": "Cerebellar hemangioblastoma" + }, + { + "baseId": "180112", + "text": "Spinal hemangioblastoma" + }, + { + "baseId": "180112", + "text": "Retinal capillary hemangioma" + }, + { + "baseId": "180112|360844|360988|514057", + "text": "Pancreatic cysts" + }, + { + "baseId": "181116", + "text": "Congenital heart defects, multiple types, 3" + }, + { + "baseId": "181165|181166|271566|363718|365258|365262|365560|448378|448387|448399|448456|448459|516094|516095|516133|516135|628286|628287|628288|650765|650776|690680|696917|824547|824548|824549|824550|918666|930709|930710|942146|942147|942148", + "text": "Myasthenic syndrome, congenital, 15" + }, + { + "baseId": "181172|513496|538330|967251", + "text": "Myopathy, vacuolar, with casq1 aggregates" + }, + { + "baseId": "181222|434816|921468", + "text": "Early-onset coronary artery disease" + }, + { + "baseId": "181284|181285|425378|621000|621001|621002|621004|970694|970695", + "text": "Developmental and epileptic encephalopathy, 75" + }, + { + "baseId": "181286|181287|372457|408483|408484|434641|535321|621005|621006|621007|621011|621012|621014|791182|861035|959510", + "text": "Combined oxidative phosphorylation deficiency 24" + }, + { + "baseId": "181294", + "text": "decreased blood alpha-hydroxyisovalerate levels" + }, + { + "baseId": "181308|791385", + "text": "Lethal congenital contracture syndrome 6" + }, + { + "baseId": "181374|181375|181376|181377|181378|250390|250391|250392|250393|250394|250395|448961|448965|448980|448985|449150|449156|449246|449248|449250|449251|449253|449254|449278|449281|516726|516727|516728|516820|516821|516824|557692|558909|559392|628981|628982|628983|628984|628985|628986|628987|683134|683135|690890|697156|762416|819081|825201|825202|825203|825204|825205|825206|825207|922406|922407|922408|922409|930973|930974|930975|942402|942403|942404|942405|942406|952785", + "text": "Nemaline myopathy 9" + }, + { + "baseId": "181397", + "text": "Brain malformation" + }, + { + "baseId": "181398|244080|244081", + "text": "Pontocerebellar hypoplasia, type 2f" + }, + { + "baseId": "181401|226233|511244|970679|970680", + "text": "Epileptic encephalopathy, early infantile, 38" + }, + { + "baseId": "181402|452274|918571", + "text": "Hemiparesis" + }, + { + "baseId": "181402|181451|181452|181464|362521|444411|578517|578518|621026|621038", + "text": "Hydrocephalus" + }, + { + "baseId": "181406", + "text": "Regression of motor development with severe dystonia and corresponding basal ganglia lesions" + }, + { + "baseId": "181407|198685|360828", + "text": "Waddling gait" + }, + { + "baseId": "181407", + "text": "Marked Hypotonia" + }, + { + "baseId": "181408", + "text": "Classical primary microcephaly" + }, + { + "baseId": "181409|181423|181424|181440|181448|243981|243987|360942|361073|361074|361075|361076|624127|624128|624129|624130|624131|624132|624133|624134|624135|624136|624137|624138", + "text": "Brain atrophy" + }, + { + "baseId": "181409|624131|624133|624134|624137|624138|708891|904111|904112|904113|904114|904115", + "text": "Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity" + }, + { + "baseId": "181410|227149|227150|227151|227152|227153|227154|227155|359599|425213|575514|578425|624065|626141|626380|626386|790428|792740|798540|798541|799338|903530|904199|920199|963132|964731|965658|965887|965888|966170|972783", + "text": "Hypotonia, infantile, with psychomotor retardation and characteristic facies 3" + }, + { + "baseId": "181412|480596|480597|480598|480599|480600|513542|788770|792744|918154|918875|918876|970533|970534", + "text": "Alkuraya-Kucinskas syndrome" + }, + { + "baseId": "181415|181418|247328|247329|247330|247331|247332|263257|263275|263348|263353|263355|263380|361695|361696|406053|514128|535693|581713|801072|857396|966614|966618|969329", + "text": "Failure to thrive" + }, + { + "baseId": "181416", + "text": "Cerebral ischemia" + }, + { + "baseId": "181419", + "text": "Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy" + }, + { + "baseId": "181420", + "text": "Severe primary microcephaly" + }, + { + "baseId": "181423|243981|243987|263279|362134|514032|789341|789342|789343|805096", + "text": "Hypoplasia of the corpus callosum" + }, + { + "baseId": "181423|514159|514160", + "text": "CNS hypomyelination" + }, + { + "baseId": "181424|181445|201836|259817", + "text": "Intractable seizure" + }, + { + "baseId": "181426|181450", + "text": "Severe brain malformation" + }, + { + "baseId": "181430", + "text": "Severe microlissencephaly" + }, + { + "baseId": "181430|613456|613457", + "text": "Exaggerated startle response" + }, + { + "baseId": "181432|237126|408431|408432|408433|408434|408437|408439|415294|461386|461397|461398|461901|461909|462240|503719|503722|526447|526721|526955|526960|526965|564854|564857|564859|566094|567473|567476|570890|570891|570896|640359|640360|640361|640362|693093|693094|838805|838806|838807|926353|926354|935706|956598|956599", + "text": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13" + }, + { + "baseId": "181434|583169|583170|919433|965222|965223", + "text": "Mental retardation, autosomal recessive 66" + }, + { + "baseId": "181435", + "text": "Early onset focal segmental glomerulosclerosis" + }, + { + "baseId": "181435", + "text": "Light complexion" + }, + { + "baseId": "181435|611342", + "text": "Galloway-Mowat syndrome 7" + }, + { + "baseId": "181437", + "text": "Hypohidrosis" + }, + { + "baseId": "181437", + "text": "COG6-related disorder" + }, + { + "baseId": "181438|904214", + "text": "Mild obesity" + }, + { + "baseId": "181438|514187|514192|514215|553301|904214", + "text": "Dolichocephaly" + }, + { + "baseId": "181441|514262|536033|626232", + "text": "Multiple mitochondrial dysfunctions syndrome 4" + }, + { + "baseId": "181441|287096|290249|362182", + "text": "Multiple mitochondrial dysfunctions syndrome" + }, + { + "baseId": "181444", + "text": "Autistic spectrum disorder with isolated skills" + }, + { + "baseId": "181447", + "text": "Iron deposition in globus pallidus" + }, + { + "baseId": "181450", + "text": "Severe cerebellar hypoplasia" + }, + { + "baseId": "181450", + "text": "Hydranencephaly" + }, + { + "baseId": "181450|189094|237371|919709", + "text": "Hydrocephalus, congenital, 3, with brain anomalies" + }, + { + "baseId": "181451|215783|512266|971072", + "text": "Developmental delay with short stature, dysmorphic features, and sparse hair" + }, + { + "baseId": "181452|181462|203232|361061|361062|362161|679520|679521|681597|682737|801079|801159|801164|815958", + "text": "Cerebellar atrophy" + }, + { + "baseId": "181452", + "text": "Bilateral squint" + }, + { + "baseId": "181453|263181|966614", + "text": "Abnormality of the skeletal system" + }, + { + "baseId": "181454|181534|683214", + "text": "Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset" + }, + { + "baseId": "181456", + "text": "Severe dystonia" + }, + { + "baseId": "181456|626261|971090", + "text": "Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities" + }, + { + "baseId": "181458", + "text": "Severe cystic degeneration of the brain" + }, + { + "baseId": "181459|540564|971124", + "text": "Mental retardation, autosomal recessive 36" + }, + { + "baseId": "181460", + "text": "Brain iron accummulation" + }, + { + "baseId": "181461", + "text": "Noonan-like facies" + }, + { + "baseId": "181466|260331|494918|494927|537080", + "text": "Neurodegeneration with brain iron accumulation" + }, + { + "baseId": "181500|181501|414753|414754|980902", + "text": "Meckel syndrome 12" + }, + { + "baseId": "181502|181503|181504", + "text": "Multiple congenital anomalies/dysmorphic syndrome-intellectual disability" + }, + { + "baseId": "181522|424617|622759|919146", + "text": "Zimmermann-Laband syndrome 2" + }, + { + "baseId": "181523|181524|181525|364000|467981|469321|532255|532723|647204|653547|694266|694267|694268|704578|704581|704582|741341|846820|938422", + "text": "Tenorio syndrome" + }, + { + "baseId": "181537|181538|181539|181540|181541", + "text": "Cerebro-costo-mandibular syndrome" + }, + { + "baseId": "181559", + "text": "Peeling skin syndrome 3" + }, + { + "baseId": "181571|181572|550645|816008|971157", + "text": "Opitz GBBB syndrome, type II" + }, + { + "baseId": "181571|439220|552475|552476|552477|552478|552479|576361|576362|590719|705833|729070|792021|792022|816008|920109", + "text": "Hypertelorism, Teebi type" + }, + { + "baseId": "181578|181579|181580|181581", + "text": "Inactive tuberculosis" + }, + { + "baseId": "181585", + "text": "Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive" + }, + { + "baseId": "181588|359076|709437", + "text": "Amelogenesis imperfecta, type IF" + }, + { + "baseId": "181613|181624|420752", + "text": "SDHB-Related Disorders" + }, + { + "baseId": "182469|204463", + "text": "Granular cell cancer" + }, + { + "baseId": "182469", + "text": "Neuroepithelial neoplasm" + }, + { + "baseId": "182679", + "text": "Renal cell carcinoma" + }, + { + "baseId": "183028|215048|215049|215050|215051|215052|215053|215054|215055", + "text": "Mediastinal germ cell tumor" + }, + { + "baseId": "184244", + "text": "Generalized hypopigmentation" + }, + { + "baseId": "184244|362817|551429", + "text": "Basal cell carcinoma" + }, + { + "baseId": "184747", + "text": "Lisch nodules" + }, + { + "baseId": "184747|222607|361014", + "text": "Subcutaneous neurofibromas" + }, + { + "baseId": "185491|363066|363579|363581|363586|613530|613531", + "text": "Pancreatic Neoplasms" + }, + { + "baseId": "185643|466188|677335|677981|822297", + "text": "Hereditary breast cancer" + }, + { + "baseId": "185667|185668", + "text": "Mental retardation, autosomal recessive 48" + }, + { + "baseId": "185669|185670|185671|185672|185673|185938|237483|237484|237485|237486|237487|237488|237489|237490|249193|254780|353906|362155|362156|414716|511032|512042|578506|609032|609033|624861|672273|679790|791290|805103|961309|961870|970976|970977", + "text": "Congenital contractures of the limbs and face, hypotonia, and developmental delay" + }, + { + "baseId": "185675|612049|612050", + "text": "Keratoderma with scleroatrophy of the extremities" + }, + { + "baseId": "185678|185679|185680|185681|185682|185683|185684|185685|185686|190178|236906|263872|263873|263874|263875|263876|263877|263878|263879|263880|263881|371695|371699|371707|371711|372684|374301|374310|374314|461460|461463|461674|461678|462296|503785|504431|526471|526474|526524|526531|527059|527061|564908|566171|566182|566193|567524|567527|567529|567534|567536|567538|567541|570985|570997|570999|640448|640449|640450|640451|640452|640453|640454|640455|640456|640457|640458|640459|640460|640461|640462|640463|652132|652395|656089|713150|713151|724708|724709|724710|724712|738272|738273|738274|738276|738277|744665|744769|752947|752948|752949|752950|768757|775948|784178|784179|784180|791169|820416|838991|838992|838993|838994|838995|838996|838997|838998|838999|839000|839001|839002|839003|839004|839005|839006|857622|903584|926384|926385|926386|926387|926388|935777|935778|935779|935780|935781|935782|935783|947655|947656|947657|947658|947659|947660|956657|956658|956659|956660|956661|956662|956663|956664|960014", + "text": "3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia" + }, + { + "baseId": "185692|205017|360041|360874|362052|362053|362054|362055|362056|362057|362058|367600|513940|514033|514048|514109|514112|514137|621021|621025|621026|621031|621035|621038|758701|792610|794093|794094|794095|794096|794097|794098|794099|794100|794100", + "text": "Corpus callosum, agenesis of" + }, + { + "baseId": "185715|576172|624089", + "text": "Spondylometaphyseal dysplasia, megarbane-dagher-melki type" + }, + { + "baseId": "185723", + "text": "appendicular lean mass relative to body height" + }, + { + "baseId": "185737", + "text": "Bile acid synthesis defect, congenital, 5" + }, + { + "baseId": "185738", + "text": "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis" + }, + { + "baseId": "185738|185739|185740|185741", + "text": "Diamond-Blackfan anemia 15 with mandibulofacial dysostosis" + }, + { + "baseId": "185742", + "text": "Cataract 43" + }, + { + "baseId": "185937|205420", + "text": "Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability" + }, + { + "baseId": "185937|205420|244091|244092|364116|538445|792787|919588|973050", + "text": "Macrocephaly, dysmorphic facies, and psychomotor retardation" + }, + { + "baseId": "185938", + "text": "Intellectual disability with episodic ataxia and congenital arthrogryposis" + }, + { + "baseId": "186053|295960|295964|295986|295990|296025|296062|296065|296070|296089|296111|296171|296228|297782|297787|297812|297863|297876|297904|297905|297912|297914|297945|297952|297971|298007|298013|298024|298040|301689|301698|301702|301726|301859|301872|301874|301875|301921|301947|301978|301993|301995|302004|302043|302047|302062|302092|302093|302125|302157|302158|302171|302259|302260|302266|302267", + "text": "Mononeuropathy of the Median Nerve" + }, + { + "baseId": "186358|964259|976826|983572", + "text": "Concentric hypertrophic cardiomyopathy" + }, + { + "baseId": "186713|360880", + "text": "Ventricular hypertrophy" + }, + { + "baseId": "186749|357627", + "text": "Peroxisome biogenesis disorder type 1A" + }, + { + "baseId": "186926", + "text": "PI NULL(WEST)" + }, + { + "baseId": "187056", + "text": "Hyperhomocysteinemia" + }, + { + "baseId": "187087|513299|626187|783385", + "text": "Dystonia 23" + }, + { + "baseId": "187089|468972|468975|468978|469946|469950|469956|470404|470408|471091|471093|533127|533230|533234|533240|533654|533658|573238|648255|648256|648257|648258|694481|694482|694483|694484|694486|694487|694489|694491|694492|694493|705175|745428|778555|847860|847861|847862|847863|852880|903638|929030|950859|958691|966355", + "text": "Spastic paraplegia 73, autosomal dominant" + }, + { + "baseId": "187090|187091|187092|187093|187094|187095|262448|262449|369797|370322|370324|370610|370612|370619|372184|458330|458335|458339|458344|458351|458360|458832|458834|458885|458892|459342|459347|481355|481356|524007|524314|524605|562811|562816|563229|563496|563499|563501|563505|563508|565547|565549|568514|568519|622394|626414|637737|637738|637739|637740|637741|637742|637743|637744|637745|651872|723337|736896|779297|783276|903557", + "text": "Coenzyme Q10 deficiency, primary, 7" + }, + { + "baseId": "187125|227368", + "text": "Familial thyroid dyshormonogenesis" + }, + { + "baseId": "187125|227368|332084|609269|609270", + "text": "Nongoitrous Euthyroid Hyperthyrotropinemia" + }, + { + "baseId": "187136|187137|425231|576188", + "text": "Keppen-Lubinsky syndrome" + }, + { + "baseId": "187145|244164|919438|983539|983540|983541", + "text": "Lethal congenital contracture syndrome 8" + }, + { + "baseId": "187146|187147|200707|248652|260940|513467|679798|972515", + "text": "Lethal congenital contracture syndrome 7" + }, + { + "baseId": "187198|187198|187199|211934|211934|211940|361073|361074|919956", + "text": "Optic atrophy 9" + }, + { + "baseId": "187203|626106|966204", + "text": "Lichtenstein-knorr syndrome" + }, + { + "baseId": "187204", + "text": "Anhidrosis, isolated, with normal sweat glands" + }, + { + "baseId": "187223|187224|187225", + "text": "Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads" + }, + { + "baseId": "187226|919783", + "text": "Cole-Carpenter syndrome 1" + }, + { + "baseId": "187228|187229|187230|626000|626001|626002|626003|626004|626005|626006|790432", + "text": "Cole-Carpenter syndrome 2" + }, + { + "baseId": "187231|187232|573261", + "text": "Idiopathic livedo reticularis with systemic involvement" + }, + { + "baseId": "187233|187234|790901|919224|919225|919226", + "text": "Singleton-Merten syndrome 2" + }, + { + "baseId": "187235|187236|187237|187238|187239|187240|187241|187242|360795|361293", + "text": "Exstrophy-epispadias complex" + }, + { + "baseId": "187243|248750|789377", + "text": "Thauvin-Robinet-Faivre syndrome" + }, + { + "baseId": "187254", + "text": "Pulmonary alveolar proteinosis" + }, + { + "baseId": "187258|406603|406604|439489|439490|439492|454148|454149|454297|454298|454300|454301|454628|454944|520428|520647|520914|562566|564416|564419|564430|612476|612477|632871|632872|632873|632874|632875|691655|691656|721187|730324|829842|829843|829844|829845|829846|923726|932579|932580|932581|944255|953927", + "text": "Short-rib thoracic dysplasia 13 with or without polydactyly" + }, + { + "baseId": "187269|187270|513578|790711|790712|790713|919094", + "text": "Mental retardation, autosomal dominant 33" + }, + { + "baseId": "187358|398057|419703", + "text": "PTEN hamartoma tumor syndromes" + }, + { + "baseId": "187648", + "text": "Primary hyperaldosteronism" + }, + { + "baseId": "187685|187686|265660|267375|270617|538964", + "text": "Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency" + }, + { + "baseId": "187694|187695|187696|270108|427130|961761", + "text": "Lipoyltransferase 1 deficiency" + }, + { + "baseId": "187894|513881|513882|513883", + "text": "Spermatogenic failure 25" + }, + { + "baseId": "187937|187938|244984|244988|245001|445605|445605|540465|798702", + "text": "Epileptic encephalopathy, early infantile, 29" + }, + { + "baseId": "187940|187941|187942|187943|187944|363759|363952|364017|438217|442312|469657|469658|469661|469663|469665|469670|469674|469678|469679|470691|470696|470697|470703|470705|470707|470714|470715|470722|470724|470729|470733|470739|470741|471080|471231|471232|471233|471235|471238|471674|471676|471679|471681|471691|471695|471696|471700|471702|471703|533905|533906|533907|533909|533910|533912|533913|533915|533917|533921|533922|533924|533925|533926|533927|533928|533929|533931|533932|533937|533938|533951|533953|533966|533975|533977|534452|534454|534458|534460|571580|571583|571585|571587|571591|573143|573815|573817|573822|573824|575174|575175|575176|577896|580477|580486|580586|580589|580597|580633|580638|580642|580644|580648|580726|580734|580736|650484|650485|650487|650488|650489|650491|650493|650494|650495|650496|650499|650501|650502|650503|650504|650505|650506|650507|650508|650509|653231|653570|694637|695862|705718|705720|705721|705722|717229|717231|717232|728928|728929|728930|728931|728932|742662|742664|742665|742668|745339|745349|757841|757842|757847|757850|773365|773369|773370|776736|776818|778597|786504|786509|788305|798030|821355|821376|822187|822188|822189|822190|822191|822192|822193|822194|822195|822196|822197|822198|822199|822200|822201|822202|822203|822204|848822|848823|848824|848825|848826|848827|848828|848829|848830|848831|848832|848833|848834|848835|848836|848837|848838|848839|848840|848841|848842|848843|848844|848845|848846|848847|848848|848849|848850|848851|848852|848853|848854|848855|848856|853007|919937|929332|929333|929334|929335|929336|929337|929338|929339|929340|929341|929342|929343|939124|939125|939126|939127|939128|939129|939130|939131|939132|939133|939134|939135|951243|951244|951245|951246|951247|951248|951249|951250|951251|951252|951253|951254|951255|958967|958968|958969|958970|960327", + "text": "Epileptic encephalopathy, early infantile, 30" + }, + { + "baseId": "187945|187946|965946", + "text": "Deafness, autosomal dominant 67" + }, + { + "baseId": "187949", + "text": "Lissencephaly 7 with cerebellar hypoplasia" + }, + { + "baseId": "187950|187951|187952", + "text": "Torsion dystonia 2" + }, + { + "baseId": "187953|214480|225813|225818|225878|243900|263826|363334|364356|390746|578358|626640|906341|961250", + "text": "Smith-Kingsmore syndrome" + }, + { + "baseId": "187955|187956|187957|187958|791449|971017", + "text": "Microcephaly and chorioretinopathy, autosomal recessive, 3" + }, + { + "baseId": "187955", + "text": "Autosomal recessive chorioretinopathy-microcephaly syndrome" + }, + { + "baseId": "187959|187960|622374|792766|858558", + "text": "Mitochondrial myopathy-lactic acidosis-deafness syndrome" + }, + { + "baseId": "187962|205671|380421|380422|380423|380424|380425|380426|380427|380428|380429|380430|380431|380432|380433|380434|380435|380436|380437|380438|380439|380440|587772", + "text": "VATER association" + }, + { + "baseId": "188023|197886|360883|360973|485741|920586", + "text": "Aortic dilatation" + }, + { + "baseId": "188044", + "text": "Oculocutaneous albinism type 1" + }, + { + "baseId": "188056", + "text": "Colon Serrated Polyposis" + }, + { + "baseId": "188056|248607", + "text": "Sessile serrated polyposis cancer syndrome" + }, + { + "baseId": "188066|188067|461411|461715|461717|526312|526313|526323|526325|526487|526493|526494|526495|526504|526773|564756|564757|564768|565871|565889|567352|567354|567363|570727|570730|640162|640163|640164|640165|640166|640167|640168|640169|640170|640171|640173|640174|640175|640176|640177|640181|640194|640195|640196|640197|640198|652200|701829|712918|712919|712921|724515|752721|768497|768503|779550|820434|838570|838571|838572|838573|838576|838577|838581|838582|838596|838597|838598|838599|838600|851441|852363|852368|852615|926280|926281|926288|935603|935604|935605|935614|940221|940222|947505|947506|947508|947509|947512|947517|947518|947519|947520|956535|956539|956540|956541|956542|959994", + "text": "Immunodeficiency 39" + }, + { + "baseId": "188114|188115|214096|214097|214098|214562|214565|264294|406872|421592|511680|790632|790633|970496|972939|972940|972941|972942|972943|972944", + "text": "Mental retardation, autosomal dominant 35" + }, + { + "baseId": "188131|188131|188132", + "text": "Linear skin defects with multiple congenital anomalies 3" + }, + { + "baseId": "188142", + "text": "PPP2R1A-related neurodevelopmental disorders" + }, + { + "baseId": "188143|188144|188145|188146|188147|188148|188149|263760|361117|362361|513288|539004|622885|788807|788808|790664|919064", + "text": "Spinocerebellar ataxia, autosomal recessive 20" + }, + { + "baseId": "188150|188151", + "text": "Mandibulofacial dysostosis with alopecia" + }, + { + "baseId": "188152|188153|188154|188155|263933|404878|404879|413244|437817|440338|442578|446984|447041|447047|447049|447086|447088|447116|447121|447122|486730|514981|514987|514988|515005|515007|515017|515018|515024|515037|550344|556550|556552|556554|556581|556583|556585|556834|556836|556838|556974|556976|576391|612492|626572|626573|626574|626575|626576|626577|626578|653844|690335|718084|718085|731569|731570|731571|745562|761051|761052|761053|818837|821810|822493|822494|822495|822496|822497|822498|822499|822500|822501|858825|921564|921565|921566|921567|929952|929953|941367|941368|941369|952009|952010|962858|964109|964122", + "text": "Epileptic encephalopathy, early infantile, 32" + }, + { + "baseId": "188156|188157|188158|513555|521116|691693|691694|691695|691697|691698|691699|698776|698779|698781|698782|698785|709621|721215|734841|782142|790514|790515|830176", + "text": "Chops syndrome" + }, + { + "baseId": "188198|188199|188200|188201|205150|205747|205748|252244|252289|252303|415044|511656|614300|614301|614302|614303|614304|622366|622367|677033|789400|816313|977220|977221|977222|980459|980460|983810", + "text": "Ehlers-Danlos syndrome due to tenascin-X deficiency" + }, + { + "baseId": "188212|188213|188214|226239|226240|226241|552291|610533|612183|612184|677957|818723|918597|918598", + "text": "Stromme syndrome" + }, + { + "baseId": "188236|191777|326590|489752", + "text": "Rhizomelic chondrodysplasia punctata type 5" + }, + { + "baseId": "188286|244018|360903", + "text": "Bilateral ptosis" + }, + { + "baseId": "188286|360903", + "text": "Stridor" + }, + { + "baseId": "188287|188288|188289|188289|188290|377022|429761|429762|429763|429764|429766|429767|429768|429769|465728|465921|465924|529468|529789|530043|530047|567680|569539|569975|569989|573715|643922|643923|643924|643925|643926|643927|643928|643929|643929|643930|643931|643932|643933|643934|643935|652689|653219|714737|714738|714739|714740|726435|726436|739961|739962|744886|754902|754908|754912|760259|779752|791524|818786|820766|843113|843114|843115|843116|843117|843118|843119|843120|843121|843122|843123|843124|852625|858660|927565|927566|927567|927568|937221|937222|937223|937223|937224|937225|937226|941111|941112|949168|949169|949170|949171|949172|949173|949174|949175|957628|960132|960133|961420|962894|965625|969609|975948", + "text": "Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4" + }, + { + "baseId": "188572|224443|622075|622077|622079|622080|967278|980501", + "text": "Long QT syndrome 8" + }, + { + "baseId": "188597|513443", + "text": "CACNA1C-related condition" + }, + { + "baseId": "188776|481553|622331|918844|918845", + "text": "Night blindness, congenital stationary, type 1g" + }, + { + "baseId": "188778", + "text": "Telomere length, mean leukocyte" + }, + { + "baseId": "188779|189041|202279|260857", + "text": "Early onset epileptic encephalopathy" + }, + { + "baseId": "188883|190898|190898|192531|193669|196060|223011|256170|256171|270858|328422|328428|338380|338381|338382|338387|338390|338398|338401|338404|338407|344439|344440|344447|344448|344452|345842|345847|345848|345852|345855|345859|345860|345861|432334|610082|610083|610084|619859|671989|671990|671991|671992|671993|671994|671995|671996|671997|671998|682343|727174|740744|800032|877479|877480|877481|877482|877483|877484|877485|877486|877487|877488|877489|877490|877491|877492|877493|877494|877495|877496|877497|877498|877499|877500|877501|877502|877503|877504|880515|880516|880517|977283", + "text": "Osteogenesis imperfecta, type XI" + }, + { + "baseId": "188893|514319", + "text": "Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures" + }, + { + "baseId": "189049|431836", + "text": "X-linked retinitis pigmentosa" + }, + { + "baseId": "189079|408742|480548|480549|581865|970972|970973", + "text": "Congenital hypotonia, epilepsy, developmental delay, and digital anomalies" + }, + { + "baseId": "189103|247572|247573|247574|247575|286038|286040|286047|286061|286065|286072|286801|286803|286808|286825|286851|289094|289096|289097|289468|289470|289472|289475|289476|496231|518175|532282|558067|558069|558428|560617|561464|561465|561466|561471|571932|571935|571936|572637|572639|574748|629944|629945|629946|629947|629948|629949|629950|629951|629952|647214|647215|647216|647217|647218|647219|647220|647221|647222|704593|704594|708234|708235|708236|708237|708238|708239|708240|708241|708242|708243|715964|715965|715966|715967|715968|715969|715970|715971|715972|719844|719845|719846|719847|719848|719850|719851|727710|727711|730138|731216|733449|741352|741354|756436|756438|763194|774824|781312|781313|790228|819156|826414|826415|826416|826417|826418|846830|846831|846832|850904|884732|884767|922749|922750|922751|922752|928701|928702|928703|928704|931380|931381|931382|931383|931384|931385|938429|942891|942892|942893|942894|942895|950515|950516|953082|953083|953084|960265|960475|960476", + "text": "Xanthinuria type II" + }, + { + "baseId": "189152|189153", + "text": "all trans retinoic acid (ATRA) response" + }, + { + "baseId": "189167", + "text": "Myopathy, lactic acidosis, and sideroblastic anemia 3" + }, + { + "baseId": "189176|227684|227685|227686|424606|511467|535699|550354|614258|615905|653810|653815|798524|964218|964815", + "text": "Mental retardation, autosomal dominant 41" + }, + { + "baseId": "189177|471576|534292|534448|574134|575269|649487|649488|649489|649490|649491|649492|653336|682340|694731|695875|849336|849337", + "text": "Dystonia 26, myoclonic" + }, + { + "baseId": "189353", + "text": "altered potassium channel function" + }, + { + "baseId": "189551|360830", + "text": "Bilateral talipes equinovarus" + }, + { + "baseId": "189551|360830", + "text": "Restrictive ventilatory defect" + }, + { + "baseId": "189551|360830", + "text": "Spinal rigidity" + }, + { + "baseId": "189551|360830", + "text": "Areflexia of lower limbs" + }, + { + "baseId": "189551|360830", + "text": "Thoracic kyphoscoliosis" + }, + { + "baseId": "189940|224203|360948|360976", + "text": "Heart disease" + }, + { + "baseId": "190032|965904|965905", + "text": "Primary autosomal recessive microcephaly 14" + }, + { + "baseId": "190033|190034|190036|190037|190039|354157", + "text": "Cone-rod dystrophy 21" + }, + { + "baseId": "190048|190049|410839|446299|611435|614477", + "text": "Mental retardation, autosomal dominant 38" + }, + { + "baseId": "190050|190051|190052|425302|481127|509061", + "text": "Brugada syndrome 9" + }, + { + "baseId": "190053|190054|328024|328031|328032|328033|328034|328038|328040|328041|328042|328046|328047|328055|328066|328068|328071|328079|328081|328085|328087|328091|328095|328100|328101|328103|328112|328114|328115|328120|328122|328144|328145|337842|337843|337848|337849|337855|337860|337863|337865|337867|337870|337876|337879|337883|337886|337888|337891|337900|337904|337912|337920|337926|337933|337940|337941|337942|337944|337950|337951|337953|337961|337966|337967|337971|337972|337980|338017|338021|338022|338025|338027|344101|344104|344105|344108|344111|344112|344114|344115|344118|344120|344121|344125|344129|344132|344135|344136|344140|344145|344147|344150|344153|344155|344156|344159|344165|344166|344191|344200|344201|345493|345494|345500|345504|345505|345507|345528|345531|345532|345538|345539|345540|345543|345547|345550|345551|345556|345558|345562|345563|345565|345567|345570|345572|345577|345595|715382|755784|755785|771438|778470|877209|877210|877211|877212|877213|877214|877215|877216|877217|877218|877219|877220|877221|877222|877223|877224|877225|877226|877227|877228|877229|877230|877231|877232|877233|877234|877235|877236|877237|877238|877239|877240|877241|877242|877243|877244|877245|877246|877247|877248|877249|877250|877251|877252|877253|877254|877255|877256|877257|877258|877259|877260|877275|880500|880501|880502|880503|880504|880505|880506|880507", + "text": "Palmoplantar keratoderma, nonepidermolytic, focal 2" + }, + { + "baseId": "190074", + "text": "Spinocerebellar ataxia 41" + }, + { + "baseId": "190094", + "text": "Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID)" + }, + { + "baseId": "190096|190097|190098|190099|622307|970666", + "text": "Basal ganglia calcification, idiopathic, 6" + }, + { + "baseId": "190112|214746|490569|578308|578309|653223|778392", + "text": "Familial adenomatous polyposis 3" + }, + { + "baseId": "190115|190116|190117|790939|983751|983752|983753|983754|983755|983756|983757|983758|983759|983760|983761", + "text": "Hypomagnesemia, seizures, and mental retardation 1" + }, + { + "baseId": "190135|190136|190137|790596|790597", + "text": "Lethal congenital contracture syndrome 9" + }, + { + "baseId": "190151|247440|247441|247442|247443|247619|247733|613863|965450|969295", + "text": "Russell-Silver syndrome" + }, + { + "baseId": "190153|622967|682371", + "text": "Epilepsy, familial adult myoclonic 2" + }, + { + "baseId": "190155|190156|190157|190158|190159|225837|264105|363943|366879|406078|406079|406081|406084|425516|451618|451621|451625|451631|451632|451644|451649|451896|451908|451911|451913|451915|451916|451917|451927|451953|451954|451955|451962|451967|451972|451980|451982|452126|452129|452132|452136|452138|452145|452160|518697|518702|518704|518707|518711|518714|518717|518752|518760|518762|518767|518924|518925|518927|518963|518970|518972|518980|518982|553165|558738|558740|558742|558744|558746|558748|559271|559273|559275|559277|561094|561098|561102|561105|562249|562255|562261|576710|578994|579056|579086|625790|630732|630733|630734|630735|630736|630737|630738|630739|630740|630741|630742|630743|630744|630745|630746|630747|630748|630749|630750|651057|653856|653915|677414|697744|697745|697746|708461|743896|747870|747872|763511|763513|763514|781503|781505|781506|790314|790315|795307|798516|801984|801985|801986|802056|819311|821881|821882|821883|821884|821885|821886|827300|827301|827302|827303|827304|827305|827306|827307|827308|827309|827310|827311|827312|827313|827314|827315|827316|827317|851260|851264|859210|922985|922986|922987|922988|931681|931682|931683|931684|931685|931686|931687|931688|931689|931690|939926|940734|943250|943251|943252|943253|943254|943255|953295|953296|953297|959674|963531|964210|964211|969700|970749|977195", + "text": "Myoclonic-atonic epilepsy" + }, + { + "baseId": "190163|190164|917886", + "text": "Microphthalmia, isolated, with coloboma 10" + }, + { + "baseId": "190165|190166|190167|190168", + "text": "Spermatogenic failure, X-linked, 2" + }, + { + "baseId": "190169|805124|861029", + "text": "Trichothiodystrophy 5, nonphotosensitive" + }, + { + "baseId": "190175|190176|190177", + "text": "46,XY sex reversal 10" + }, + { + "baseId": "190179|190180|248761|248762|248763|248764|421212|427716|788735|861040|861041|918481", + "text": "Leukodystrophy, hypomyelinating, 10" + }, + { + "baseId": "190181|190182|190183|190184|190185|190186|678051|964119", + "text": "Brachydactyly-arterial hypertension syndrome" + }, + { + "baseId": "190187|789121", + "text": "Pontocerebellar hypoplasia type 3" + }, + { + "baseId": "190188|190189", + "text": "Combined oxidative phosphorylation deficiency 25" + }, + { + "baseId": "190381|192972|193029|193111|193489|194681|254797|254798|254799|254805|254808|254812|254813|254814|318893|318894|318895|318899|318906|318910|318911|318916|318920|318921|318923|319016|327277|327278|327289|327290|327292|327295|327301|327305|327319|327327|327334|327336|327337|327338|327349|327452|333427|333434|333471|333482|333483|333496|333510|333515|333536|333537|333538|333543|333546|333555|335132|335149|335152|335163|335173|335180|335181|335196|335197|335212|335213|335230|335235|335237|335248|335297|335357|335365|353263", + "text": "Acquired porencephaly" + }, + { + "baseId": "190422|190423|256719|256722|256723|271607|297283|299226|303465|303468|342322|342336|342348|342352|347747|347762|349112|349132|349138|349140|349145|349147", + "text": "Paget disease of bone" + }, + { + "baseId": "190426|204583|204584|204585|204586|204587|204588|362062|919233|964333", + "text": "Short stature with nonspecific skeletal abnormalities" + }, + { + "baseId": "190563|205286|362184|374023|413396|429621|539057|614015|614017|614020|614021|614022|919554|919555|919556|919557|919558|919559|919560|919561|919562|919563|920342", + "text": "Prader-Willi syndrome" + }, + { + "baseId": "190611|190612|190613|266005|309229|309233|309235|309249|309250|309263|309266|313917|313919|313920|313925|319831|319832|319834|319835|320337|320343|320344|320349|320350|320356|320365|320372|320375|613962|865259|865260|865261|865262|865263|865264|865265|865266|865267|865268|865269|868428", + "text": "Split hand-foot malformation 3" + }, + { + "baseId": "190642|267606|359211|364354|364355|414726|421163|442610|556627|626776|655030|780306|818831|822665|941428|941429", + "text": "Spondyloepimetaphyseal dysplasia with joint laxity" + }, + { + "baseId": "190659|190660|243346|283711|284399|286121|286148|286149|286164|286776|286862|286863|286867|286869|287482|287485|287486|288269|288271|289167|289171|289180|289511|289554|289565|289594|290953|290954|290962|290968|290981|291188|291192|291217|291225|293496|304108|304131|307702|312729|317489|318129|322018|322037|322041|322064|322093|329480|331296|331312|331333|331349|333815|333854|338138|338203|338215|340050|340054|340078|340097|343799|343803|349090|350017", + "text": "Spastic paraplegia, autosomal dominant" + }, + { + "baseId": "190793|192097|192636|193028|194107|194661|215290|215291|246954|251245|251246|251248|251249|251250|251251|251255|251256|251257|251258|251259|251262|251263|251264|251265|251267|251268|251269|265669|266002|268088|268281|269737|272107|272439|272446|272805|273142|273662|291301|291305|291312|291314|291315|291320|291321|291326|291328|291329|291337|291339|291348|291349|291357|291362|291363|291367|291371|291375|291377|291378|291379|292375|292376|292378|292381|292384|292398|292404|292422|292424|292429|292430|292431|292449|292450|292453|292456|292459|292463|292472|292474|292476|292479|292480|292481|292485|292495|292500|292507|292509|292517|292518|295787|295788|295793|295799|295802|295803|295809|295812|295815|295832|295833|295834|295840|295841|295842|295843|295844|295850|295860|295862|295863|295864|295865|295866|295867|295868|295870|295874|295878|295879|295881|295882|295884|295888|295895|295896|295897|295902|295903|295905|295913|295914|295915|295917|295920|295921|295923|295926|295928|295932|295934|367354|367365|367714|367717|368789|368795|368806|368807|406356|433581|443505|488686|489919|491191|500348|500628|500630|500635|500817|500826|500840|500962|584829|612660|620135|620136|655570|659955|709003|720602|720605|734246|734248|748471|748479|764132|795463|799329|799330|889475|889476|889477|889478|889479|889480|889481|889482|889483|889484|889485|889486|889487|889488|889489|889490|889491|889492|889493|889494|889495|889496|889497|889498|889499|889500|889501|889502|889503|889504|889505|889506|889507|889508|889509|889510|889511|889512|889513|889514|889515|889516|889517|889518|889519|889520|889521|889522|889523|889524|889525|889526|889527|889528|889529|889530|889531|889532|889533|889534|889535|889536|889537|889538|889539|889540|889541|889542|889543|891694|891695|891696|891697|891698|891699|891700|977202", + "text": "FLNB-Related Spectrum Disorders" + }, + { + "baseId": "190802|227346", + "text": "Bone mineral density quantitative trait locus 1" + }, + { + "baseId": "191253|224877|263252|360913|360914|425203|496110", + "text": "Growth delay" + }, + { + "baseId": "191263|268075|268448|292256|292257|292263|292264|292285|297000|297001|297011|297012|297043|297046|297056|331416|331417|331418|331420|331425|331426|331428|331429|331434|341735|341736|341740|341742|341748|341749|347094|347098|347099|347100|347101|347104|347110|347113|347115|347116|348420|348425|348426|348429|348430|348431|348433|348439", + "text": "Smith-McCort dysplasia" + }, + { + "baseId": "191328|195870|195870|214063|214064|214065|226046|226047|226048|226049|226050|226051|272293|307590|544093|613501|792760", + "text": "Heimler syndrome 2" + }, + { + "baseId": "191401|192021|238372|360822|366028|511336|628711|790070|790071|970714|970715", + "text": "Early infantile epileptic encephalopathy 62" + }, + { + "baseId": "191401|192021|238372|360822|513175|513176|513177|513178|816441|964166", + "text": "Epilepsy, familial focal, with variable foci 4" + }, + { + "baseId": "191565|550367", + "text": "SCN8A-related disorder" + }, + { + "baseId": "191884", + "text": "SCN1A-Related Disorders" + }, + { + "baseId": "191890", + "text": "FLNA-related disorder" + }, + { + "baseId": "192240|192241|194311|194312|268964|273740|329344|329348|329350|329353|329358|345360|345364|345365|345368|346743|346744|346745|550125|586653|589676|688805|694141|861144|878111|878112|878113|878114|878115|878116|878117|878118|878119|878120|878121|878122|878123|878124|878125|878126|878127|878128|878129|878130|880565|880566", + "text": "Growth hormone deficiency" + }, + { + "baseId": "192598|192599|192600|194555|194558|194559|254272|291930|291932|291938|291943|291951|293328|293357|293358|293360|296667|296670|296671|296674|296675|296681|296691|296699|314845|314861|314862|314865|314867|314872|314873|314879|321649|321650|321653|322134|322145|323103|327685|327736|327743|327744|327745|327748|327749|328816|328819|328827|331427|338167|338170|338210|338239|339697|340151|344312", + "text": "Congenital Stationary Night Blindness, Recessive" + }, + { + "baseId": "192662|322465|331847|331854|334830|334832|334837|338871|344705|344707|349683|349686|349687|349688|349692|350684|350687|654899", + "text": "Congenital dyserythropoietic anemia" + }, + { + "baseId": "192995|205231|285543|288937|288967|288979|296803|298736|298743|302946|303128|318655|318659|318675|318687|326790|326934|332972|333048|333051|333068|333083|333105|334543|334549|334732|334798|334799|334803|334807|334818|334825", + "text": "Hereditary sensory and autonomic neuropathy type II" + }, + { + "baseId": "193191|202453|282352|282353|282354|282355|282359|282360|282369|283031|283039|283042|283043|283093|283094|284604|284606|284613|284630|285054|285055|285062|285069|311035|311128|311129|317606|317661|317686|331773|331794|331804|333249|333251|353541", + "text": "Early Infantile Epileptic Encephalopathy, Autosomal Dominant" + }, + { + "baseId": "193483|378472|485873|485874|485875|485876|805117|816357", + "text": "Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies" + }, + { + "baseId": "193507|312076|312079|312081|312083|312085|312088|317728|317744|317745|317747|317748|317749|317755|323771|323789|323792|323793|323795|323796|323804|323809|323818|323831|323837|323843|324482|324490|324493|324496|324502|324525|324539|324545|324546|324547|724175|866823|866824|866825|866826|866827|866828|866829|866830|866831|866832|866833|866834|866835|866836|868581|868582", + "text": "Metaphyseal anadysplasia" + }, + { + "baseId": "193524|324572|324574|324585|324589|324595|334144|334147|334149|340832|340838|340839|340842|342222|342224|703545|770594|874825|874827|874828|874829|874830|874831|874832|874833|874834|874835|874836|874837|874838|874839|874840|874841|876633", + "text": "UMOD-Associated Kidney Disease" + }, + { + "baseId": "193961", + "text": "Classic multiminicore myopathy" + }, + { + "baseId": "194348|207867|264645|965582", + "text": "Focal seizures with impairment of consciousness or awareness" + }, + { + "baseId": "194351|278697|278726|278912|278917|280044|280090|280169|280171|283985|289693|289714|290450|290472|290485|290486|293545|293548|294144|320697|320698|320704|329501|329502|329506|329507|329508|329509|336094|336097|336106|336119|336131|338009|338016|338023|338038|353093|353647", + "text": "Cleft Lip +/- Cleft Palate, Autosomal Dominant" + }, + { + "baseId": "194410|250761|286996|287001|287003|287024|287070|287788|287814|289162|289967|289968|289969|289972|289975|289986|290138|290549|290561|290631|290634|293058|293472|306486|314291|316039|320896|328007|328018|328020|329365|339623|345381|346754|346763|353640|353641", + "text": "Congenital Myasthenic Syndrome, Recessive" + }, + { + "baseId": "195230|291713|291719|291720|291722|291724|291725|291726|293046|293047|293051|293052|293054|296315|296319|296366|297144|311806|311813", + "text": "Combined Pituitary Hormone Deficiency, Recessive" + }, + { + "baseId": "195354|203840|203843|961746|976516", + "text": "Generalized myoclonic seizures" + }, + { + "baseId": "195700|437850|609208|609209|609210|609219|609220|609221|609222|609223|609240", + "text": "Nonsyndromic cleft lip palate" + }, + { + "baseId": "195704|196002|280582|280601|280607|280608|281071|282349|282361|282581|282591|282593|282602|282605|427819|481594|615934", + "text": "GLUT1 deficiency syndrome" + }, + { + "baseId": "195870|973023", + "text": "PEX6-Related Disorders" + }, + { + "baseId": "196051|201228|390660|390661|390662|390663|390664|390665|390666|404707|404708", + "text": "MBD5 associated neurodevelopmental disorder" + }, + { + "baseId": "196215|208567|208570|343319", + "text": "Primary Microcephaly 2 With or Without Cortical Malformations" + }, + { + "baseId": "196307|551719", + "text": "developmental delay with intractable seizures" + }, + { + "baseId": "196335", + "text": "Neurologic Disorders/Seipinopathy" + }, + { + "baseId": "196335|253485|307677|311934|318023|318040", + "text": "Congenital generalized lipodystrophy (disease)" + }, + { + "baseId": "196414|196415|196416|215775|447233|447323|447346|447348|447350|447351|447359|447411|447412|447419|515211|515213|515214|515217|515229|515231|515233|515237|515318|515329|556658|556717|557007|558188|558190|558192|558194|624162|627005|627006|627007|627008|627009|627010|627011|650591|650668|706787|718310|718312|731807|745783|761295|761297|761299|774401|780360|780362|822910|822911|822912|822913|822914|822915|822916|822917|822918|822919|822920|822921|822922|822923|822924|822925|822926|822927|921708|921709|921710|921711|921712|921713|921714|921715|921716|930110|930111|930112|930113|930114|930115|930116|930117|930118|939777|940604|940605|941535|941536|941537|941538|941539|941540|941541|941542|941543|952119|952120|952121|952122|952123|952124|959526|960409|966610", + "text": "Autoimmune interstitial lung, joint, and kidney disease" + }, + { + "baseId": "196418|196419|196420|196421|196422|443750|454810|454814|454823|454826|454828|454832|454835|454929|454933|454939|454940|454947|455405|455406|455416|455418|455420|455427|455432|455666|455669|521016|521019|521022|521025|521029|521031|521048|521051|521058|521072|521251|521257|521259|521265|521268|521272|521282|521284|521286|521291|521293|521294|521299|521415|521417|521420|521421|521425|521515|521518|521524|521529|521534|521539|521546|560263|560265|560267|560269|560372|560374|560376|560378|560380|563036|563039|563040|563042|563044|563045|563047|563051|563057|565011|565012|624303|633731|633732|633733|633734|633735|633736|633737|633738|633739|633740|633741|633742|633743|633744|633745|633746|633747|633748|633749|633750|633751|633752|633753|651317|651320|651386|651414|709813|709815|709816|709817|709818|709819|709820|709821|709822|721374|721375|721376|721377|734996|734997|734999|735000|744036|744222|744225|749407|749408|749409|749411|749412|749415|749417|765011|765018|765019|779087|779091|790535|790536|790537|830628|830629|830630|830631|830632|830633|830634|830635|830636|830637|830638|830639|830640|830641|830642|830643|830644|830645|830646|830647|830648|830649|830650|830651|830652|830653|830654|830655|830656|830657|830658|851028|852199|923990|923991|923992|923993|923994|923995|923996|923997|923998|923999|932838|932839|932840|932841|932842|932843|932844|932845|932846|932847|939999|944534|944535|944536|944537|944538|944539|944540|944541|944542|954108|954109|954110|960560|960561", + "text": "Immunodeficiency 40" + }, + { + "baseId": "196427|196428|917947|917948|917949", + "text": "Fanconi anemia, complementation group T" + }, + { + "baseId": "196817|213532|213571|224371|405508|434610", + "text": "Ehlers-Danlos syndrome, type 3" + }, + { + "baseId": "197521|226957|389102|514123|553143|590049|801187|801217", + "text": "Abnormality of the cerebral white matter" + }, + { + "baseId": "197660|971395", + "text": "Progressive congenital scoliosis" + }, + { + "baseId": "198601", + "text": "Hemolytic disease of fetus OR newborn due to RhD isoimmunization" + }, + { + "baseId": "198601", + "text": "Anti-D isoimmunization affecting pregnancy" + }, + { + "baseId": "198618", + "text": "GLB1-Related Disorders" + }, + { + "baseId": "198685|360828", + "text": "Proximal lower limb amyotrophy" + }, + { + "baseId": "198685|360828", + "text": "Decreased patellar reflex" + }, + { + "baseId": "198685", + "text": "Rimmed vacuoles" + }, + { + "baseId": "198685", + "text": "Limb-girdle muscle atrophy" + }, + { + "baseId": "199051|208908|434672|443088|485811|858778|858781|858785|858790", + "text": "Centronuclear myopathy" + }, + { + "baseId": "199781|424262|961619", + "text": "Intellectual disability and seizures" + }, + { + "baseId": "199794|620825", + "text": "LIPA-Related Disorders" + }, + { + "baseId": "199803|230626|230630|654796", + "text": "Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies" + }, + { + "baseId": "199848|199849|199850|199851|199852|199853|199854|247083|413346|437940|462450|462694|462696|463181|463294|463295|463299|463300|463303|463308|505020|527327|527335|527637|527640|527641|527646|527866|565695|565696|565701|567036|567047|571988|571995|641361|641362|641363|641364|641365|652731|693274|693276|693277|693278|695582|695583|713707|798660|798661|798662|798663|798664|801575|840211|840212|840213|840214|861392|861393|936231|936232|956918|956919|960055|964397", + "text": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 4" + }, + { + "baseId": "199855", + "text": "Deafness, congenital, with onychodystrophy, autosomal dominant" + }, + { + "baseId": "199862|364869|364882|447509|498222|515479|515489|515595|515609|549875|549876|549877|556796|557165|558351|627402|627403|627404|627405|627406|690507|690508|695027|823498|823499|823500|930337|940621", + "text": "Spastic paraplegia 74, autosomal recessive" + }, + { + "baseId": "199874|199875|583088|614600|697690|708404|970748", + "text": "Acrofacial dysostosis, Cincinnati type" + }, + { + "baseId": "199876|199877|361734|361735|361736|405706|708211|790227|918766|977188|977189", + "text": "Epileptic encephalopathy, early infantile, 50" + }, + { + "baseId": "199878", + "text": "Alopecia congenita keratosis palmoplantaris" + }, + { + "baseId": "199879|199880", + "text": "Erythrokeratodermia variabilis et progressiva 3" + }, + { + "baseId": "199952", + "text": "Methylmalonic aciduria" + }, + { + "baseId": "199983|199984|199985|215216|270084|282051|282712|284556|284557|284564|628488|690749|719280|762214|794787|977575|977576|977577", + "text": "Methylmalonic aciduria with homocystinuria cblD type" + }, + { + "baseId": "200092|299102|360826|361067|361069|361097|522940|564803|612361|612362|612363|612364|612365|612366|612367|612368|612369|612370|612371|612372|612373|612374|612375|612376|612377|612378|612379|612380|612381|612382|612383|612384|612385|612386|612387|612388|612389|612390|612391|612392|612393|612394|612395|612396|612397|612398|612399|612400|612401|612402|612403|612404|612405|612406|612407|612408|612409|612410|612411|612412|612413|612414|612415|612416|612417|612418|612419|612420|612421|612422|612423|612424|612425|612426|612427|612428|612429|801103|801104", + "text": "Severe Myopia" + }, + { + "baseId": "200167", + "text": "Mitochondrial proton-transporting ATP synthase complex deficiency" + }, + { + "baseId": "200359|376912|377930|572837|573438|648546|648547|648548|648549|648550|705358|757361|786319|821297|848182|848183|848184|848185|938896", + "text": "Methylmalonic aciduria due to transcobalamin receptor defect" + }, + { + "baseId": "200397|200398|200399", + "text": "Meier-gorlin syndrome 6" + }, + { + "baseId": "200691|200692|200692|200694|252491|252492|252492|252493|252498|252499|252500|252502|252503|252504|252505|252507|252509|252510|252515|252516|252517|252520|252521|252522|252523|252524|252527|252528|252529|361649|369176|370533|370534|406901|406901|413722|415064|415065|443987|443989|443990|443992|443993|443994|443999|455749|455750|455757|455769|455774|455778|455782|455783|455787|455800|455803|455903|455907|455910|455917|455918|455921|455923|455931|455936|455938|455939|455943|455945|455948|455952|455961|455969|455971|455975|455976|455979|455986|456323|456325|456326|456332|456336|456337|456338|456340|456342|456346|456348|456352|456359|456363|456364|456367|456392|456672|456677|456679|456683|456688|456693|456699|456706|456707|456713|456716|456717|456721|456729|456730|456747|456748|513286|513286|521757|521760|521771|521773|521780|521785|521786|521789|521791|521793|521800|521802|521805|522128|522129|522130|522134|522136|522137|522139|522142|522144|522146|522151|522152|522155|522158|522159|522164|522166|522168|522170|522176|522491|522492|522508|522518|522534|522540|522543|522549|522552|522555|539003|560826|560835|560848|560851|560853|560854|560855|560862|560864|560868|560876|560877|560886|560889|560893|560899|560901|560902|560905|560906|560907|560908|560917|560929|560969|560976|560978|560980|560982|560986|560989|560993|561004|561006|561008|561012|561015|561016|561025|561028|561030|561032|561034|561041|563691|563705|563706|563709|563712|563713|563718|563722|563723|563731|563734|563737|563739|563743|563745|563747|563749|563751|563753|563755|563762|565842|565846|565852|565853|565854|565858|565874|565877|565881|565888|565892|565895|565898|565903|565905|565920|565924|565936|565953|565957|635139|635140|635141|635142|635143|635144|635145|635146|635147|635148|635149|635150|635151|635152|635153|635154|635155|635156|635157|635158|635159|635160|635161|635162|635163|635164|635165|635166|635167|635168|635169|635170|635171|635172|635173|635174|635175|635176|635177|635178|635179|635180|635181|635182|635183|635184|635185|635186|635187|635188|635189|635190|635191|635192|635193|635194|635195|635196|635197|635198|635199|635200|635201|635202|635203|635204|635205|635206|635207|635208|635209|635210|635211|635212|635213|635214|635215|635216|635217|635218|635219|635220|635221|635222|635223|635224|635225|635226|635227|635228|635229|635230|635231|635232|635233|635234|635235|635236|635237|635238|635239|635240|635241|635242|651549|651578|651582|651591|651670|679752|692037|692038|692039|692040|692041|692043|692044|692045|692046|692047|692049|692053|692054|692055|692057|692058|692059|692060|695327|695328|699658|699662|699663|699666|699668|699669|710601|710602|710603|710604|710605|710608|710609|710610|710611|722136|722137|730436|735769|735771|735774|750218|750220|750224|759605|765824|765827|765829|765843|777648|777653|777774|779270|782646|782651|782652|782654|787468|788805|805008|819749|832350|832351|832352|832353|832354|832355|832356|832357|832358|832359|832360|832361|832362|832363|832364|832365|832366|832367|832368|832369|832370|832371|832372|832373|832374|832375|832376|832377|832378|832379|832380|832381|832382|832383|832384|832385|832386|832387|832388|832389|832390|832391|832392|832393|832394|832395|832396|832397|832398|832399|832400|832401|832402|832403|832404|832405|832406|832407|832408|832409|832410|832411|832412|832413|832414|832415|832416|832417|832418|832419|832420|832421|832422|832423|832424|832425|832426|832427|832428|832429|832430|832431|832432|832433|832434|832435|832436|832437|832438|832439|832440|832441|832442|851098|851100|851462|851465|851469|917765|917766|924444|924445|924446|924447|924448|924449|924450|924451|924452|924453|924454|924455|924456|924457|924458|924459|924460|924461|924462|924463|924464|924465|924466|924467|924468|924469|924470|924471|924472|924473|924474|924475|924476|924477|924478|924479|924480|924481|924482|924483|924484|924485|924486|924487|924488|924489|933456|933457|933458|933459|933460|933461|933462|933463|933464|933465|933466|933467|933468|933469|933470|933471|933472|933473|933474|933475|933476|933477|933478|933479|933480|933481|933482|933483|933484|933485|933486|933487|940048|940856|940857|940858|940859|940860|940861|945174|945175|945176|945177|945178|945179|945180|945181|945182|945183|945184|945185|945186|945187|945188|945189|945190|945191|945192|945193|945194|945195|945196|945197|945198|945199|945200|945201|945202|945203|945204|954880|954881|954882|954883|954884|954885|954886|954887|954888|954889|954890|954891|954892|954893|954894|954895|954896|954897|959815|959816", + "text": "Ullrich congenital muscular dystrophy 2" + }, + { + "baseId": 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+ "text": "Bethlem myopathy 2" + }, + { + "baseId": "200708|200709|919365", + "text": "Exudative vitreoretinopathy 6" + }, + { + "baseId": "200710|200711", + "text": "Retinitis pigmentosa 72" + }, + { + "baseId": "200718|205252|205702", + "text": "Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome" + }, + { + "baseId": "200762|200763|200765|200766|200767|200769|200770|514251|514252|514253|514254|514255|514256|788887|917779", + "text": "Adams-Oliver syndrome 6" + }, + { + "baseId": "200878|905829|905830|905831|905832|964360|964361", + "text": "Growth restriction, severe, with distinctive facies" + }, + { + "baseId": "200885|200887|200888|200889|205558|455396|455414|455415|455424|455500|455504|455507|455514|455525|455528|456230|456238|456240|521483|521777|521781|521787|521788|521873|521878|521879|522157|522162|522163|560642|560644|560646|560648|560650|563460|563463|563465|563466|565499|565502|565507|634751|634752|634753|634754|634755|634756|634757|634758|634759|634760|651532|744106|850690|850691|850693|850694|850695|850696|850697|929876|929877|929878|929879|951953|951954|959417|959418|959419|959420", + "text": "Ciliary dyskinesia, primary, 32" + }, + { + "baseId": "200970|200971|200972|200973|200974|215173|259235|411605|411606|609275|609276|732842|790064|790065|790067|857610|857627|861670|963435|964991", + "text": "Infantile liver failure syndrome 2" + }, + { + "baseId": "200983|200983|200984|200984|200985|200986|200987|214344|214345|214346|214347|214347|260917|353908|364136|409140|426072|429581|429582|438769|463307|463315|463316|463321|463323|463330|463335|463844|463845|463854|464181|464184|464187|464189|464196|464210|464326|464331|464332|514662|528218|528219|528220|528222|528576|528586|528587|528691|566189|566507|568950|568952|611786|642523|642524|642525|652956|693515|693515|693516|693518|693519|702911|702912|702913|702914|702915|702916|702917|702918|702920|702921|702922|725711|778191|778288|784734|791416|820631|841566|841567|841568|919533|927106|927107|927108|936643|936644|936645|940305|940306|948592|948593|972793", + "text": "Joubert syndrome 23" + }, + { + "baseId": "200983|200983|200984|205373|205374|214347|364136|409140|429581|438769|463307|463315|463316|463321|463323|463330|463335|463844|463845|463854|464181|464184|464187|464189|464196|464210|464326|464331|464332|514662|528218|528219|528220|528222|528576|528586|528587|528691|566189|566507|568950|568950|568952|611786|642523|642524|642525|652956|693515|693516|693518|693519|702911|702912|702913|702914|702915|702916|702917|702918|702920|702921|702922|725711|778191|778288|784734|820631|841566|841567|841568|927106|927107|927108|936643|936644|936645|940305|940306|948592|948593", + "text": "Short-rib thoracic dysplasia 14 with polydactyly" + }, + { + "baseId": "200983|260900|260907|260908|260914|260917|260923|260924|362277", + "text": "Joubert syndrome and related disorders" + }, + { + "baseId": "201007|431489", + "text": "Beukes hip dysplasia" + }, + { + "baseId": "201142|231839|264585|332444|359214|361120|361121|361122|361124|361127|361130|361140|361141|361142|361146|361147|361149|361150|361155|608933|608934", + "text": "intellectual deficiency" + }, + { + "baseId": "201179|201194|205231|264065|282640|282677|284326|284539|285543|288937|288967|288979|316394|316408|320150|320157|323800|323825|323870|331227", + "text": "Intellectual Disability, Dominant" + }, + { + "baseId": "201452", + "text": "SCN1A Seizure Disorders" + }, + { + "baseId": "201881|202181|203013|516418|551735", + "text": "Lennox-Gastaut syndrome" + }, + { + "baseId": "202181|653823", + "text": "Severe neurodevelopmental delay" + }, + { + "baseId": "202254|305050|305052|308787|308789|308790|313900|313966|313968|313970|314028|314029|314034|353837|353838|464434|464437|464567|528332|528333|528814|528857|568338|568345|569082|577379|581792|642789|642790|642791|703027|703028|760358|787889|841908|841909|841910|841911|841912|927197|936766|936767|936768|948726|957341|957342", + "text": "Nocturnal frontal lobe epilepsy" + }, + { + "baseId": "202264|551694", + "text": "myoclonic epilepsy" + }, + { + "baseId": "202291", + "text": "Photosensitive tonic-clonic seizures" + }, + { + "baseId": "202332", + "text": "STXBP1-associated neurodevelopmental disorder" + }, + { + "baseId": "202626", + "text": "Epileptic encephalopathy, early infantile, 3" + }, + { + "baseId": "202926|861053", + "text": "Childhood myocerebrohepatopathy spectrum" + }, + { + "baseId": "203048|400552", + "text": "Primary progressive multiple sclerosis" + }, + { + "baseId": "203699|243873", + "text": "Continuous spike and waves during slow-wave sleep syndrome" + }, + { + "baseId": "203726|623231|801183", + "text": "Limb dystonia" + }, + { + "baseId": "203840|203843", + "text": "Progressive neurologic deterioration" + }, + { + "baseId": "203840|203843", + "text": "Difficulty standing" + }, + { + "baseId": "203897|203912", + "text": "sporadic NAFE" + }, + { + "baseId": "203912|203950", + "text": "Neurodevelopmental disorder with epilepsy" + }, + { + "baseId": "203913", + "text": "Familial GGE" + }, + { + "baseId": "204032|263371", + "text": "Speech apraxia" + }, + { + "baseId": "204306|204307|204308|204309|204310|204311|204312|204313|217239|481060|481061|481062|481063|481064|481069|481070|481072|609006|679835|745640|798456|963077|973108", + "text": "Robinow syndrome, autosomal dominant 2" + }, + { + "baseId": "204353|204354", + "text": "Maturity-onset diabetes of the young, type 14" + }, + { + "baseId": "204355|204357|204358", + "text": "Barber-Say syndrome" + }, + { + "baseId": "204356", + "text": "Ablepharon macrostomia syndrome" + }, + { + "baseId": "204390|205762|441330|459438|459443|459444|459535|459999|460001|524527|524830|524937|524939|525087|525090|563212|563214|563216|563927|563941|565878|565882|565883|569005|569006|577120|612285|638210|638211|638212|638213|638214|638215|692663|700985|836071|836072|836073|836074|836075|925566|925567|934741|934742|934743|934744|934745|946597|946598", + "text": "Distal spinal muscular atrophy, autosomal recessive 2" + }, + { + "baseId": "204406", + "text": "Deafness, autosomal recessive 104" + }, + { + "baseId": "204433|204434|204438|205693|205694|205695|205696|205697|205698|213956|583077|788729|789872|789873|789874|789875|789876|966069|966070|966071", + "text": "Achromatopsia 7" + }, + { + "baseId": "204458|439706|439707|439708|439709|439710|439711|439712|439713", + "text": "Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia" + }, + { + "baseId": "204462", + "text": "Pazopanib response" + }, + { + "baseId": "204521|204522|204523|204524|204525|204526|204527|204528|204529|204530", + "text": "Glycogen content in skeletal muscle, increased" + }, + { + "baseId": "204609|204610|204611|204612|204613|204614|204615|204616|204617|204618|204619|204620|204621|204622|204623|204624|204625|204626|204627|204628|204629", + "text": "Childhood-Onset Schizophrenia" + }, + { + "baseId": "204637|204638|204639|204640", + "text": "intellectual disability with severe speech impairment" + }, + { + "baseId": "204637|204638|204639|204640|206661|206662|583119|815999|919489|919490", + "text": "Mental retardation, autosomal dominant 40" + }, + { + "baseId": "204642|275535", + "text": "Developmental dyslexia" + }, + { + "baseId": "204646|204647|237152|362360|383518|481309|583083|608802|608860|626121|654116|790142|918714|961592|961593|963515|964187|964651|965454|970729|972711", + "text": "Mental retardation, autosomal dominant 39" + }, + { + "baseId": "204975|204976|805052|805053|858583", + "text": "Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis" + }, + { + "baseId": "204977|227320|920331", + "text": "Nonmedullary thyroid carcinoma 1" + }, + { + "baseId": "204978", + "text": "Thyroid cancer, nonmedullary, 4" + }, + { + "baseId": "204979|486801", + "text": "Herpes simplex encephalitis, susceptibility to, 7" + }, + { + "baseId": "205022|514092", + "text": "Transient ischemic attack" + }, + { + "baseId": "205031", + "text": "Aplasia/Hypoplasia of the thumb" + }, + { + "baseId": "205031", + "text": "Multiple skeletal anomalies" + }, + { + "baseId": "205041|205042|205043|205044|297332|481298|481299|481300|481301|481302|481303|481304|481305|481306|481307|512580|583135|792693|792694|792695|792696|792697|792698|792699|798803|919972|961658|972734", + "text": "Mental retardation, X-linked 12" + }, + { + "baseId": "205045|205046|205047|790663", + "text": "Congenital anomalies of kidney and urinary tract type 2" + }, + { + "baseId": "205051|205052|205053|205054|205055|205056", + "text": "Spinocerebellar ataxia, X-linked" + }, + { + "baseId": "205144|205144|260877|486672|486673|486674|561972|799347|799348|980914", + "text": "Amyotrophic lateral sclerosis, susceptibility to, 24" + }, + { + "baseId": "205181|514063|682738", + "text": "Hypokalemia" + }, + { + "baseId": "205181|514063", + "text": "Hypermagnesemia" + }, + { + "baseId": "205197|205198|855088|855091|855092|855093|855094|855095|855096|962246", + "text": "Developmental and epileptic encephalopathy, 85, with or without midline brain defects" + }, + { + "baseId": "205199|205200|205201|205202|205203|205204|575497|575498|575510|575516|578507|622420|918387|919493|974497", + "text": "Combined oxidative phosphorylation deficiency 31" + }, + { + "baseId": "205199|205200|205201|205202|205203|205204|205205|226502|426751|514079|550131", + "text": "Infantile muscular hypotonia" + }, + { + "baseId": "205208|320553|320594|329361|337894|399643|400207|400211|445230|464041|464044|528518|550273|550277|566413", + "text": "Spermatogenic failure 28" + }, + { + "baseId": "205216|226496|226497|226498|226499|226502|424605|511195|609017|621936|626101|800980|964137|964797|983663|983664", + "text": "Mental retardation, autosomal dominant 42" + }, + { + "baseId": "205216|226495|226496|226497|226498|226499|226500|226501|226502", + "text": "Neurodevelopmental Disability" + }, + { + "baseId": "205216|226495|226496|226497|226498|226499|226500|226501|226502|792733|918499", + "text": "hypotonia" + }, + { + "baseId": "205216", + "text": "LEUKEMIA, CHRONIC LYMPHOCYTIC, SOMATIC" + }, + { + "baseId": "205216|210875|225802|225854|227575|362296|362313|424629|512101|513423|576122|623669|623670|623672|623674|623677|623678|623679|623680|623682|623683|623684|623686|623688|623689|623690|623691|623692|623693|623694|623697|623698|623699|623701|623702|623703|623704|623706|623707|623708|623709|623710|623711|623712|623713|623714|623715|623716|623718|623719|623720|623722|623723|623725|623727|623729|623730|623732|623738|623739|623740|623742|623743|623744|623745|623746|623747|623748|623749|623750|623751|623752|623753|623754|623755|623756|623757|623759|623761|623762|623764|623767|623768|623769|623771|623772|623773|677427|679241|679242|679243|679244|679245|679246|679247|679791|743180|788958|788959|788960|788961|788962|789343|792776|857334|857335|857336|857337|857338|857339|857340|857341|857342|857343|857344|861271|861569|904877|916784|916786|916789|917227|918245|918283|918302|921257|969483|969485|969486|969487|969488|970259|970273|970274|970275|970276|970277|970278|970279|970280|970281|970282|970283|970284|970285|970286|970287|970288|970289|970290|970291|970292|970293|970294|970295|970296|970297|970298|970338|970342|970673|970678|970684|970690|970698|970703|970757|970771|970774|970802|970867|970916|970921|970975|971003|971015|971021|971047|971049|971071|971075|971106|971107|971108|971109|971123|971140|971141|971154|971158|971168|971173|971186|971193|971199|971223|973044|974486", + "text": "Neurodevelopmental disorder" + }, + { + "baseId": "205218|215784|405057|425337|480736|480738|654113|970676", + "text": "Takenouchi-Kosaki syndrome" + }, + { + "baseId": "205253|522909|625144|969586", + "text": "Spinal muscular atrophy, infantile, James type" + }, + { + "baseId": "205277|214788|214789|390060|390109|462348|462357|462364|462631|463076|463220|463221|463226|526878|527278|527292|527294|527295|527297|527557|527822|527828|527829|565016|565634|565636|565640|566961|566963|568135|571942|571944|614380|624459|624461|641283|641284|641285|641286|641287|641288|641289|641290|641291|641292|641293|641294|641295|652186|652494|702426|702427|713645|738759|769230|769231|769233|787883|840112|840113|840114|840115|840116|840117|840118|840119|840120|840121|840122|840123|840124|926684|926685|936196|936197|936198|936199|936200|936201|936202|948110|948111|956908|956909|964926|965347", + "text": "Immunodeficiency 44" + }, + { + "baseId": "205306|481272|481273|481274|481275|481276|551303|551321|677329|791801|797583|800057|805961|919753|962055|965892|972730|976669", + "text": "Intellectual disability, autosomal dominant 56" + }, + { + "baseId": "205317", + "text": "Tonic-clonic epilepsy" + }, + { + "baseId": "205317", + "text": "Unilateral Hypotonia" + }, + { + "baseId": "205317|230984", + "text": "Mental Retardation, Psychosocial" + }, + { + "baseId": "205332|205359|205360|205362|205363|205364|205365|205366|205367|379026|471347|472076|535063|535065|535066|573631|575346|575347|649752|694806|939463|951634", + "text": "X-linked myopathy with excessive autophagy" + }, + { + "baseId": "205352|420004|420005|420006|626301|677474|679332|792638|792639|792640|920061", + "text": "Intellectual disability, X-linked 106" + }, + { + "baseId": "205385|205386|226589|226591", + "text": "Acute rhabdomyolysis" + }, + { + "baseId": "205385|205386|226589|226591", + "text": "Episodic flaccid weakness" + }, + { + "baseId": "205385|205386|226589|226591|226592|226593|378630|608879|792019|802233|904183|904184|972732", + "text": "METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION" + }, + { + "baseId": "205404|226149|538497|578583|578584|581233|581234|622481|758004|788945|798769|805043|805044", + "text": "Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism" + }, + { + "baseId": "205532|205533|919254|919255|919256|920278", + "text": "Epithelial recurrent erosion dystrophy" + }, + { + "baseId": "205538|205539|426175|429831|429833|429836|429837|465817|465820|466516|466519|466553|466801|530099|530103|530106|530110|530208|530423|530644|530645|568210|568212|570330|570334|570338|570349|570351|574101|644805|644806|644807|644808|644809|644810|644811|644812|653283|726738|731088|731089|771003|776191|844090|844091|844092|844093|844094|844095|844096|844097|844098|844099|844100|844101|844102|844103|844104|844105|844106|850420|850421|927883|927884|927885|929859|937529|937530|937531|937532|937533|937534|939724|949476|949477|951929|951930|957831|957832|959406|959407|962179", + "text": "Dyskeratosis congenita, autosomal dominant 6" + }, + { + "baseId": "205538|205539", + "text": "Dyskeratosis congenita, autosomal recessive 7" + }, + { + "baseId": "205551|274984|424401|452592|452593|452598|452600|452601|452607|452608|452621|452626|452631|452633|452636|452638|452644|452651|452653|452655|452657|452659|452663|452664|452667|452675|452679|452680|452682|452683|452686|452687|452689|452691|452875|452878|452880|452881|452884|452888|452891|452892|452894|452896|452897|452901|452903|452907|452908|452913|452915|452916|452917|452920|452923|452924|452925|452926|452927|452929|452930|452932|452933|452934|452935|452937|452938|452939|452941|452944|452945|452946|452947|452948|452951|452953|452955|452963|452964|452966|452969|452970|452971|452973|452974|452975|452976|452977|452978|452982|452984|452986|452988|452994|452996|452997|453006|453007|453008|453016|453018|453026|453030|453032|453033|453144|453146|453151|453155|453160|453163|453170|453176|453188|453190|453191|453194|453195|453207|453210|453212|453214|453220|453221|453222|453238|453247|453251|453253|453256|453258|453261|453270|453281|453289|453296|453314|453316|453319|453320|453325|453328|519458|519463|519467|519476|519480|519482|519484|519485|519486|519487|519488|519490|519491|519493|519495|519496|519499|519504|519505|519506|519508|519509|519511|519512|519517|519519|519520|519521|519522|519527|519529|519531|519534|519535|519537|519546|519553|519555|519559|519560|519563|519568|519573|519579|519583|519653|519655|519662|519664|519675|519679|519683|519696|519698|519704|519709|519711|519713|519715|519716|519720|519722|519724|519727|519744|519746|519749|519755|519757|519762|519764|519766|519769|519770|519775|519777|519781|519783|519787|519791|519793|519797|519799|519801|559076|559078|559080|559082|559084|559086|559088|559090|559092|559094|559096|559606|559608|559610|559612|559614|559616|559618|559620|559622|559624|559626|559628|559630|559632|559634|559636|561704|561709|561710|561712|561717|561722|561723|561726|561730|561744|561745|561750|563162|563167|563169|563174|563177|563186|563192|563193|563197|563204|631628|631629|631630|631631|631632|631633|631634|631635|631636|631637|631638|631639|631640|631641|631642|631643|631644|631645|631646|631647|631648|631649|631650|631651|631652|631653|631654|631655|631656|631657|631658|631659|631660|631661|631662|631663|631664|631665|631666|631667|631668|631669|631670|631671|631672|631673|631674|631675|631676|631677|631678|631679|631680|631681|631682|631683|631684|631685|631686|631687|631688|631689|631690|631691|631692|631693|631694|631695|631696|631697|691457|691458|691459|691460|691461|691462|691463|691464|691465|691466|691467|691468|695212|695213|698199|698202|698203|698204|698205|698206|698207|698209|698210|698212|698213|698215|698217|698219|698220|698221|698222|698223|708960|708961|708964|708965|708968|708970|708971|720554|720555|720556|720557|720558|720560|720562|720563|720565|720566|734192|734196|734198|734200|734203|743942|744030|748413|748418|748419|748421|748426|759217|759227|764056|764059|764060|764066|764067|764071|764077|774864|777264|777267|777383|779070|781759|781761|781767|781771|828408|828409|828410|828411|828412|828413|828414|828415|828416|828417|828418|828419|828420|828421|828422|828423|828424|828425|828426|828427|828428|828429|828430|828431|828432|828433|828434|828435|828436|828437|828438|828439|828440|828441|828442|828443|828444|828445|828446|828447|828448|828449|828450|828451|828452|828453|850956|851067|851572|851574|857588|857589|923285|923286|923287|923288|923289|923290|923291|923292|923293|923294|923295|923296|923297|923298|923299|923300|923301|923302|932040|932041|932042|932043|932044|932045|932046|932047|932048|932049|932050|932051|932052|932053|940760|943650|943651|943652|943653|943654|943655|943656|943657|943658|943659|943660|943661|943662|943663|943664|943665|943666|943667|953562|953563|953564|953565|953566|953567|953568|959704", + "text": "Ciliary dyskinesia, primary, 37" + }, + { + "baseId": "205553|205554|205555|788391", + "text": "Ciliary dyskinesia, primary, 42" + }, + { + "baseId": "205598", + "text": "Chondrodysplasia punctata 2, X-linked dominant, atypical" + }, + { + "baseId": "205664", + "text": "HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT, WITH MELNICK-NEEDLES SYNDROME" + }, + { + "baseId": "205685|205685|205686|205686|205687|274206|360505|424904|427124|442566|550231|553084|622739|622740|788944|966805|972527", + "text": "Noonan syndrome 10" + }, + { + "baseId": "205688|205689|264699|360061|360159|363735|364005|373101|373104|373107|373852|373856|376070|409125|409127|438761|439007|439099|442557|463255|463257|463275|463276|463280|463286|463287|463289|463782|463785|463787|463795|463796|464103|464108|464120|464125|464126|464275|464277|464279|464281|464283|464285|464289|481139|486105|487787|504561|504784|505464|511014|528171|528183|528188|528190|528193|528196|528198|528522|528536|528537|528545|528650|528661|528664|528667|552775|566480|566482|566487|568917|568922|568928|568929|568931|572804|572805|572806|642470|642471|642472|642473|642474|642475|642476|642477|642478|642479|642480|642481|642482|652556|672277|693500|693504|693505|693507|693508|693509|695619|695620|702890|702891|725675|799765|820623|841525|841526|841527|841528|841529|841530|841531|841532|841533|841534|841535|841536|852741|927082|927083|927084|927085|927086|927087|927088|927089|927090|927091|936629|936630|936631|940303|940304|941061|948575|948576|948577|948578|957224|957225|957226|957227|957228|962887|962888|964415", + "text": "Noonan syndrome 9" + }, + { + "baseId": "205690|205691|205692|456134", + "text": "Glioma susceptibility 9" + }, + { + "baseId": "205707|359048|359049|359050|359051|964900|972456|974877|975715", + "text": "Congenital disorder of glycosylation type 1y" + }, + { + "baseId": "205708|205709|205710|205711|205712|205713|205714|205715|226778|226779|226786|422400", + "text": "CLCN4-related disorder" + }, + { + "baseId": "205729|243941|243942|243943|243944|243945|260375|260376|390649|390650|414917|425531|608947|608948|800392|827639|961026|970758", + "text": "Charcot-Marie-Tooth disease, axonal, type 2T" + }, + { + "baseId": "205735|207496|253010|361357|425459|446888|513538|610599|610600|610601|610602|610603|610604|610605|610606|610607|610608|798956|918835|918836|961970|965341|965343", + "text": "Systemic lupus erythematosus" + }, + { + "baseId": "205751", + "text": "Autosomal recessive AGK-related phenotype" + }, + { + "baseId": "205780|260116|422096|512202|582444|610488|610492", + "text": "Menke-Hennekam syndrome 1" + }, + { + "baseId": "205802|361919|613993", + "text": "Chromosome 17q12 deletion syndrome" + }, + { + "baseId": "205803|205804", + "text": "Macrocytic dyserythropoietic anemia" + }, + { + "baseId": "206613|788942|848626", + "text": "Progressive bulbar palsy of childhood" + }, + { + "baseId": "206661|206662|214566|214568|214571|264510|495565|514653|796914|815999|972844|972968|972969", + "text": "CHAMP1-related syndrome" + }, + { + "baseId": "206679|206680|206681|424449|438672|612142|612176|698319|720688|815903|961982|961983|964657|970782|971539|981441", + "text": "Immunodeficiency, common variable, 12" + }, + { + "baseId": "206712", + "text": "Stenosis of the external auditory canal" + }, + { + "baseId": "206712|263421", + "text": "Malar flattening" + }, + { + "baseId": "206712|263270", + "text": "Midface retrusion" + }, + { + "baseId": "206712|263322|361071|408757|514005|514187|682749|805096|920517", + "text": "Micrognathia" + }, + { + "baseId": "206820", + "text": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3" + }, + { + "baseId": "206864|360820|361025|361047|513943", + "text": "Limb pain" + }, + { + "baseId": "207153|226418|538607|966332|966334", + "text": "Myelodysplasia" + }, + { + "baseId": "207165|256466|297145|322262|330265|330616|330632|331573|331577|340236|340237|340242|340467|340885|340921|346183|346464|346475|346542|347494|347500|347830|347842|353319|353463|353474|353475", + "text": "Dyskeratosis Congenita, Recessive" + }, + { + "baseId": "207209|226415|226416|226417|226418|226419|428396|428398|428400|428401|965623", + "text": "Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to" + }, + { + "baseId": "207705|207707", + "text": "Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1" + }, + { + "baseId": "207729", + "text": "Spinal muscular atrophy, lower extremity-predominant, 2, AD" + }, + { + "baseId": "207729|407722|608895", + "text": "Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant" + }, + { + "baseId": "208267|425950", + "text": "Kabuki-like syndrome" + }, + { + "baseId": "208463|430075|430076|430078", + "text": "Obesity, autosomal dominant" + }, + { + "baseId": "208704|353974", + "text": "Benign Rolandic epilepsy" + }, + { + "baseId": "208713|243606|243619|243620|257452|336677|336686|336699|336711|336717|336736|336740|336742|346357|346369|346386|350599|350602|350609|350615|350616|350619|350623|350626|351666|351667|351675|351677|351679|351686|362898|362899|362900|362901|403736|404243|404263|430418|469592|469595|470630|470637|470649|471193|471194|471618|471631|533846|533849|533863|533873|533875|552358|552360|552361|552363|552366|552367|552378|552380|552382|552390|552391|552392|571520|571527|573128|648982|653667|653831|984020", + "text": "Hereditary thrombocytopenia and hematologic cancer predisposition syndrome" + }, + { + "baseId": "208809|208816", + "text": "Microcephaly and chorioretinopathy with or without mental retardation" + }, + { + "baseId": "208841|208843|208844|208846|208847|208848|208849|208850|208851|208852", + "text": "Abnormal cortical gyration" + }, + { + "baseId": "209077|215663|552261", + "text": "Cerebral-cerebellar-coloboma syndrome, X-linked" + }, + { + "baseId": "209199", + "text": "Alpha-thalassemia/mental retardation syndrome" + }, + { + "baseId": "209332", + "text": "JOUBERT SYNDROME 29" + }, + { + "baseId": "209332|424234", + "text": "Orofaciodigital syndrome 16" + }, + { + "baseId": "209338", + "text": "Intellectual disability (severe)" + }, + { + "baseId": "209387|209388|209389|209390|209391|247637|247638|509029|509030|509031|509032|719875", + "text": "Short-rib thoracic dysplasia 15 with polydactyly" + }, + { + "baseId": "209387|209388|209389|209390|209391|260921|538980|622504", + "text": "Short-rib thoracic dysplasia 1 with or without polydactyly" + }, + { + "baseId": "209407|209408|222923|264416|444519|444522|495041|495042|495043|495044|513434|612480|613506|654134|677304|792606|794090|806407|920276", + "text": "AU-KLINE SYNDROME" + }, + { + "baseId": "209809", + "text": "Brain Aneurysm" + }, + { + "baseId": "209858|209860|239862|298319|298323|298324|298325|298328|298331|298335|298336|298339|298340|298348|298354|300625|300626|300636|300637|300639|300640|304909|304910|304913|304923|304948|304960|304961|304962|304965|304969|304972|304988|304989|305124|305125|305133|305146|305149|305150|305151|305155|305168|305169|305172|305175|305183|305187", + "text": "Parkes Weber syndrome" + }, + { + "baseId": "209858|239859|239862|264245|268905|298323|298331|300626|300636|300637|304910|304948|304960|304962|305146|305149|394972|394975|394981|395146|395158|433889|455253|455715|455728|455733|455972|455985|455988|495239|521262|521542|521553|521608|521869|609600|609603|609604|634453|634455|634460|651267|683742|683743|683744|683745|683746|683747|686767|686768|689800|699206|765368|779142|831235|831236|831237|831238|831239|831240|831241|831242|831243|831244|831245|831246|831247|851048|851050|852224|924180|924181|924182|924183|924184|924185|924186|924187|924188|933051|933052|933053|933054|933055|933056|933057|933058|933059|933060|933061|933062|940019|940827|944762|944763|944764|944765|944766|944767|944768|954263|954264|954265|954266|954267|959781", + "text": "Capillary malformation-arteriovenous malformation" + }, + { + "baseId": "209918|311722|407257|522812|613855|613933|613934|613935|613936|818713|919114|919115|920245|966542", + "text": "Williams syndrome" + }, + { + "baseId": "210238", + "text": "Epistaxis" + }, + { + "baseId": "210644|364851", + "text": "ADCK3-Related Disorders" + }, + { + "baseId": "210790|285147|285164|285783|285810|288120|353561", + "text": "Thiamine Metabolism Dysfunction Syndrome" + }, + { + "baseId": "210897|247473", + "text": "Portal hypertension, noncirrhotic" + }, + { + "baseId": "210898", + "text": "Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency" + }, + { + "baseId": "211110|211112", + "text": "Cystic Leukoencephalopathy" + }, + { + "baseId": "211259|211261|247571|481197|481208|481210|536153|578614", + "text": "Spastic paraplegia 77, autosomal recessive" + }, + { + "baseId": "211320", + "text": "Severe lactic acidosis" + }, + { + "baseId": "211570|315359|329611", + "text": "Optic Atrophy, Recessive" + }, + { + "baseId": "211614|211619|439516|439517|610426|677437", + "text": "Optic atrophy 5" + }, + { + "baseId": "211827|256339|264339|292955|294312|294313|297750|297774|297785|297790|297874|303732|303737|303738|307196|307236|309188|309201|309206|312159|312174|319813|320336|345482", + "text": "Progressive external ophthalmoplegia with mitochondrial DNA deletions" + }, + { + "baseId": "212720|242329", + "text": "B-Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21" + }, + { + "baseId": "212828|961297", + "text": "DYNC2H1-Related Disorder" + }, + { + "baseId": "212829|265359|393351|440054|440058|440073|440085|440086|440093|440097|440100", + "text": "Type IV short rib polydactyly syndrome" + }, + { + "baseId": "213290|611994", + "text": "Ganglioglioma" + }, + { + "baseId": "213453|683051|683119", + "text": "Charcot-Marie-Tooth disease type 5" + }, + { + "baseId": "213453|439659|625417|791929|791930|971134", + "text": "Spinocerebellar ataxia 46" + }, + { + "baseId": "213602|551712", + "text": "Bannayan-Riley-Ruvalcaba syndrome" + }, + { + "baseId": "213674", + "text": "Bleeding disorder platelet type macrothrombocytopenia" + }, + { + "baseId": "213674|411533|411534|411535|411536|411537|974492|975947", + "text": "Bleeding disorder, platelet-type, 21" + }, + { + "baseId": "213760|213765|213766|413295|434637", + "text": "Spastic paraplegia 9b, autosomal recessive" + }, + { + "baseId": "213760|213762|213763|213903|213904|213905|253951|311782|311783|311800|317399|317414|323424|323434|324069|324070|373610|373621|413295|415242|434637|437871|444691|460344|460358|460416|460700|461164|461165|461169|503312|513599|525626|564063|564950|566648|566650|566654|566655|566660|569906|569909|639320|639321|639322|639323|639324|639325|639326|652348|665615|692902|692903|712533|712534|724130|775702|783785|837521|837522|837523|837524|837525|837526|837527|919307|919308|920290|925986|935257|935258|947157|947158|947159|947160|956289|956290", + "text": "Cutis laxa, autosomal dominant 3" + }, + { + "baseId": "213761|213762|213762|213763|213763|213764|253951|311782|311783|311800|317399|317414|323424|323434|324069|324070|373610|373621|413295|415242|434637|437871|444691|460344|460358|460416|460700|461164|461165|461169|503312|508733|513599|525626|564063|564950|566648|566650|566654|566655|566660|569906|569909|639320|639321|639322|639323|639324|639325|639326|652348|665615|692902|692903|712533|712534|724130|775702|783785|837521|837522|837523|837524|837525|837526|837527|859828|925986|935257|935258|947157|947158|947159|947160|956289|956290", + "text": "Hereditary spastic paraplegia 9A" + }, + { + "baseId": "213762", + "text": "ALDH18A1 deficiency" + }, + { + "baseId": "213776|481265|536058|536061|536062|536063|536064|965283", + "text": "Dextrocardia" + }, + { + "baseId": "213786", + "text": "6q21-6q22.1 deletion" + }, + { + "baseId": "213951", + "text": "Adolescent alopeciam dentogingival abnormalitites and intellectual disability" + }, + { + "baseId": "213953|244036|792729", + "text": "Autosomal recessive woolly hair 3" + }, + { + "baseId": "213957|213958|213959|213960|213961|213962|213963|213964|213965", + "text": "Nonsyndromic otitis media" + }, + { + "baseId": "213979|249384|276318|276319|276546|276547|277014|277022|277025|277112|277113|277114|277115|277116|277117|277120|319105|327533|333805|335443|335480|335534|335538|353059|353060|353284", + "text": "Zonular Pulverulent Cataract" + }, + { + "baseId": "214327|214330|420427|514026", + "text": "Occipital encephalocele" + }, + { + "baseId": "214327|514026|514058|971020", + "text": "Cystic renal dysplasia" + }, + { + "baseId": "214342|439558|439560|590021|590021|590163|621032|798668|798669|970039|983797", + "text": "Joubert syndrome 33" + }, + { + "baseId": "214358", + "text": "B9D1-Related Disorders" + }, + { + "baseId": "214364", + "text": "Rotary nystagmus" + }, + { + "baseId": "214364|360913|360914", + "text": "Limb undergrowth" + }, + { + "baseId": "214392|214393|214394", + "text": "Porokeratosis 9, multiple types" + }, + { + "baseId": "214481", + "text": "OBESITY (BMIQ14), SUSCEPTIBILITY TO" + }, + { + "baseId": "214513", + "text": "Benign Soft Tissue Neoplasm of Uncertain Differentiation" + }, + { + "baseId": "214521|453543|453545|453555|453558|453562|453566|453567|453781|453785|453787|453793|453799|453800|453810|453812|453822|453830|453969|453970|453975|453979|454356|454363|454364|520133|520135|520263|520273|520507|520508|520510|520515|520518|520538|520539|520543|559811|559813|559815|559817|559946|562250|562254|562262|562264|562268|564071|564082|564089|564092|564098|632462|632463|632464|632465|632466|632467|632468|632469|632470|632471|632472|632473|698641|698642|698643|698644|698645|709478|721083|721085|721086|734740|764626|764627|782042|829470|829471|829472|829473|829474|829475|829476|829477|829478|829479|829480|829481|829482|829483|829484|829485|829486|829487|829488|829489|829490|829491|829492|923610|923611|923612|923613|923614|923615|923616|932442|932443|932444|932445|932446|932447|932448|932449|932450|932451|932452|932453|932454|932455|944126|944127|944128|944129|944130|944131|953851|953852|953853|953854|953855", + "text": "Epilepsy, progressive myoclonic, 10" + }, + { + "baseId": "214526|214527|970942", + "text": "Mitral valve prolapse 2" + }, + { + "baseId": "214539", + "text": "INCLUSION BODY MYOPATHY WITHOUT EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1" + }, + { + "baseId": "214544|577601|580398|610495|791655|791656|791657|920543", + "text": "Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis" + }, + { + "baseId": "214548|624110|624111|624112", + "text": "APC-mutation negative familial colorectal cancer" + }, + { + "baseId": "214559|214560|214561|215104|438599|438992|446253|469375|469378|469385|469388|469388|470412|470416|470417|470428|470435|470904|470909|470913|470920|470928|470929|470930|470932|470932|471396|471399|471408|471417|471418|471420|471422|486770|533547|533547|533549|533558|533584|533586|533587|533589|533591|533592|533597|533597|533634|533635|533638|533639|534121|534122|534127|571261|571266|571269|572916|572917|572920|572921|573557|573559|573560|573561|575109|575110|575111|612454|612455|612456|612457|612458|612459|612460|612461|648721|648722|648723|648724|648725|648726|648727|648728|648729|648730|648731|648732|648733|648734|648735|648736|648737|648738|648739|648740|648741|648742|648743|653562|653647|653650|677463|705509|705510|705511|705512|705514|705515|705516|705517|717013|717014|717016|728694|728695|728696|742440|742441|757563|757566|757568|757569|760903|760960|773127|773129|773132|773138|776660|778683|786392|786393|786394|821330|821331|848433|848434|848435|848436|848437|848438|848439|848440|848441|848442|848443|848444|848445|848446|848447|848448|848449|848450|848451|848452|848453|848454|848455|848456|848457|852378|852910|920417|929203|929204|929205|929206|929207|929208|929209|929210|929211|929212|929213|938988|938989|938990|938991|938992|938993|938994|938995|938996|940509|941252|941253|951110|951111|951112|951113|951114|951115|951116|951117|951118|958852|958853|958854|960319|960320", + "text": "Early infantile epileptic encephalopathy 34" + }, + { + "baseId": "214739|861615", + "text": "RNU4ATAC-related spliceosomopathies" + }, + { + "baseId": "214742|214743|214744|214745|425229|792645|798761|919909|961890", + "text": "Epileptic encephalopathy, early infantile, 35" + }, + { + "baseId": "214760|214761|626298|860895|964619|964706|983695", + "text": "Ritscher-schinzel syndrome 2" + }, + { + "baseId": "214792|226768", + "text": "Split-foot malformation with mesoaxial polydactyly" + }, + { + "baseId": "214799|214800|214801|214802|458194|458195|458710|458712|458713|458722|458810|459217|459220|459222|459225|459226|523891|523893|523902|523903|524174|524176|524179|524438|524443|524445|524452|524455|524461|524463|524491|563352|563358|563362|563366|563369|565400|565408|565409|565413|565419|568380|568381|568386|568388|568390|568397|637602|637603|637604|637605|637606|637607|637608|637609|637610|637611|637612|637613|637614|637615|637616|637617|692559|692560|700725|700726|723244|744445|766997|783218|783219|820040|820041|835353|835354|835355|835356|835357|835358|835359|835360|835361|835362|835363|835364|835365|835366|835367|835368|835369|925325|925326|925327|925328|925329|925330|925331|925332|934500|934501|934502|934503|934504|934505|940122|946299|946300|946301|946302|946303|946304|946305|946306|955652|972790", + "text": "Epileptic encephalopathy, early infantile, 37" + }, + { + "baseId": "214799|214800|214801|214802|800989", + "text": "Progressive encephalopathy" + }, + { + "baseId": "214807", + "text": "Immunodeficiency 45" + }, + { + "baseId": "214809|224665|224666|249216|260858|260859|553351|815897|815918|815920|815926|815927", + "text": "Combined T and B cell immunodeficiency" + }, + { + "baseId": "214809|578416", + "text": "Immunodeficiency 46" + }, + { + "baseId": "214831|214832|214833", + "text": "Pseudohyperkalemia, familial, 2, due to red cell leak" + }, + { + "baseId": "214841", + "text": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, MODIFIER OF" + }, + { + "baseId": "214881|214882|539045|551310|623028|791214|966599", + "text": "Microcephaly 16, primary, autosomal recessive" + }, + { + "baseId": "214932|214933|432275|432276", + "text": "Overhydrated hereditary stomatocytosis" + }, + { + "baseId": "215001|215002", + "text": "Charcot-Marie-Tooth disease, axonal, type 2y" + }, + { + "baseId": "215003|215004|248765|410985|426373|470149|470150|470163|470167|470174|470176|470179|470182|470183|470189|471069|471072|471086|471087|471498|471501|471506|471509|471511|471515|471517|471522|471523|471912|471915|471916|471918|471919|471920|471922|471924|471926|512515|534204|534206|534207|534210|534211|534217|534218|534221|534232|534236|534241|534245|534254|534258|534265|534338|534341|534348|534350|534357|534358|534716|534718|534719|534725|534727|534730|535283|537403|537404|540472|571916|571922|571925|571927|571937|573361|573362|573364|573366|573367|573373|574091|574092|574094|574096|574098|574100|575252|575253|575254|575255|575256|575257|575258|575259|649376|649377|649378|649379|649380|649381|649382|649383|649384|649385|649386|649387|649388|649389|649390|649391|649392|649393|649394|649395|649396|649397|649398|649399|649400|649401|649402|649403|649404|649405|649406|649407|653322|653715|653719|683110|683112|683213|694707|694710|694711|705881|705882|705884|729145|742854|742856|742857|742858|745154|745344|758037|758041|773515|773517|773518|778636|792053|849234|849235|849236|849237|849238|849239|849240|849241|849242|849243|849244|849245|849246|849247|849248|849249|849250|849251|851920|852930|929463|929464|929465|929466|929467|929468|929469|929470|939273|939274|939275|951425|951426|951427|951428|951429|951430|951431|951432|951433|951434|951435|959071|959072|959073|960345|960346|982248|982249", + "text": "Charcot-Marie-Tooth disease, axonal, type 2z" + }, + { + "baseId": "215037", + "text": "MELANOCORTIN 4 RECEPTOR POLYMORPHISM" + }, + { + "baseId": "215037", + "text": "OBESITY, RESISTANCE TO" + }, + { + "baseId": "215059|916783", + "text": "Deafness, autosomal dominant 68" + }, + { + "baseId": "215089|215090|215091", + "text": "X-linked dominant Parkinson's disease" + }, + { + "baseId": "215093|368095|513941|514022|608934|801518|801519|806406", + "text": "Leukoencephalopathy" + }, + { + "baseId": "215093|622895|964356", + "text": "Leukodystrophy, hypomyelinating, 12" + }, + { + "baseId": "215097|514119|517762|970834", + "text": "Recurrent infections" + }, + { + "baseId": "215104|215105|469388|470932|533547|533597|619848|622471|677463", + "text": "Epilepsy, idiopathic generalized, susceptibility to, 14" + }, + { + "baseId": "215118", + "text": "CHD2-Related Disorder" + }, + { + "baseId": "215312|424455|424456|424459|424460|424461|550887|550889|654125|963573|976649", + "text": "Intellectual disability, autosomal dominant 53" + }, + { + "baseId": "215434|254136|274286|313856|313857|313862|313863|313867|313872|313873|313874|313877|313885|313886|313888|313889|320061|320069|320071|320080|320084|320087|320102|320108|320111|320114|320134|320135|320138|320142|320143|320145|320146|320147|320163|320166|320167|320197|320198|326222|326244|326245|326246|326248|326251|326252|326255|326256|326257|326258|326270|326272|326273|326276|326277|327197|327203|327206|327207|327214|327222|327223|327224|327241|327242|327259|327263|327273|327276|327282|327283|612908|867820|867821|867822|867823|867824|867825|867826|867827|867828|867829|867830|867831|867832|867833|867834|867835|867836|867837|867838|867839|867840|867841|867842|867843|867844|867845|867846|867847|867848|867849|867850|867851|867852|867853|867854|867855|867856|867857|867858|867859", + "text": "carboxymethyl-dextran-A2-gadolinium-DOTA" + }, + { + "baseId": "215434|223627|223637|262041|262042|262043|262044|262045|262046|262047|262048|262049|262050|262051|313857|313862|313870|313872|313873|313874|313885|313888|320061|320062|320071|320080|320087|320088|320089|320100|320102|320108|320111|320112|320114|320138|320142|320143|320145|320146|320147|320163|320165|320167|320174|320198|320199|326222|326244|326245|326251|326252|326255|326257|326270|326273|326277|327197|327204|327214|327217|327218|327223|327224|327241|327263|327272|327273|327282|327283|551625|576140|800694|858615", + "text": "Congenital aniridia" + }, + { + "baseId": "215434|254136|274286|313856|313857|313862|313863|313867|313870|313872|313873|313874|313877|313885|313886|313888|313889|320061|320062|320069|320071|320080|320084|320087|320088|320089|320100|320102|320108|320111|320112|320114|320134|320135|320138|320142|320143|320145|320146|320147|320163|320165|320166|320167|320174|320197|320198|320199|326222|326244|326245|326246|326248|326251|326252|326255|326256|326257|326258|326270|326272|326273|326276|326277|327197|327203|327204|327206|327207|327214|327217|327218|327222|327223|327224|327241|327242|327259|327263|327272|327273|327276|327282|327283|612908|867820|867821|867822|867823|867824|867825|867826|867827|867828|867829|867830|867831|867832|867833|867834|867835|867836|867837|867838|867839|867840|867841|867842|867843|867844|867845|867846|867847|867848|867849|867850|867851|867852|867853|867854|867855|867856|867857|867858|867859", + "text": "Keratitis, hereditary" + }, + { + "baseId": "215571|361955|550268|550270|550271|550272|789387|975719|975720|975721|976519", + "text": "Myopathy, congenital, with neuropathy and deafness" + }, + { + "baseId": "215635|215636|215637|805099", + "text": "Tooth agenesis, selective, 7" + }, + { + "baseId": "215638", + "text": "Retinal dystrophy and iris coloboma with or without congenital cataract" + }, + { + "baseId": "215639|215640|215641", + "text": "Parkinson disease 22, autosomal dominant" + }, + { + "baseId": "215642|215643", + "text": "Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type" + }, + { + "baseId": "215646|215647", + "text": "Deafness, autosomal dominant 69" + }, + { + "baseId": "215651|215652|260899|439090|800608", + "text": "Ciliopathy" + }, + { + "baseId": "215655|215656|215657|622876|788769|857616", + "text": "SLC39A8-CDG" + }, + { + "baseId": "215661|215662", + "text": "Nonsyndromic hypergonadotropic hypogonadism" + }, + { + "baseId": "215661|215662", + "text": "Ovarian dysgenesis 5" + }, + { + "baseId": "215673|215674|481352|539029|964343|965278|965279|970225", + "text": "Myasthenic syndrome, congenital, 19" + }, + { + "baseId": "215723|215724|215725|536073|918617|980302", + "text": "Cleft palate, psychomotor retardation, and distinctive facial features" + }, + { + "baseId": "215751|215752", + "text": "Symmetric circumferential skin creases, congenital, 1" + }, + { + "baseId": "215753|215754|215755|215756|621619|622028", + "text": "Skin creases, congenital symmetric circumferential, 2" + }, + { + "baseId": "215758|215759|798566", + "text": "Optic atrophy 10 with or without ataxia, mental retardation, and seizures" + }, + { + "baseId": "215782|482291|816484|816485|906277", + "text": "Joubert syndrome 26" + }, + { + "baseId": "215785|215786|215787", + "text": "Radioulnar synostosis with amegakaryocytic thrombocytopenia 2" + }, + { + "baseId": "216009|216019", + "text": "CCDC115-CDG" + }, + { + "baseId": "216009|216010|216017|216019", + "text": "Congenital disorders of glycosylation type II" + }, + { + "baseId": "216010|216017|224173|224174", + "text": "TMEM199-CDG" + }, + { + "baseId": "216789|216790|216791|216792|789892|789893", + "text": "Cerebellar atrophy, visual impairment, and psychomotor retardation" + }, + { + "baseId": "216792|611498", + "text": "EMC1-Related Disorder" + }, + { + "baseId": "216916|216917|216918|216919|216920|360676|411476|411477|422515|512747|535715|590565|622929|625879|682085|682086|682087|682088|682089|682090|682091|682092|682093|682094|682095|682096|682097|682098|682099|682100|682101|682102|682103|682104|682105|920058|920059|920060|964925|980405|983690", + "text": "Mental retardation, X-linked, syndromic 33" + }, + { + "baseId": "216921|578525|578526|917791|917792", + "text": "Coenzyme Q10 deficiency, primary, 8" + }, + { + "baseId": "216924|216925|216926|465565|466181|466183|466185|466191|466192|466971|466975|467013|467018|467265|467266|467268|467283|467291|467292|467294|530450|530585|530592|530594|530595|530775|530777|530963|530969|530970|530974|568524|568526|569828|570641|570644|570646|574228|645236|645237|645238|645239|645240|645241|694004|703926|703927|703928|703929|726960|726961|726963|755578|760499|785456|792802|820961|820962|844624|844625|844626|844627|844628|844629|844630|844631|844632|844633|844634|844635|844636|844637|844638|928034|928035|937694|937695|949667|949668|949669|949670|949671", + "text": "Ciliary dyskinesia, primary, 33" + }, + { + "baseId": "216927|216928", + "text": "Mental retardation, autosomal recessive 51" + }, + { + "baseId": "216929|216930|216931|216932|581263", + "text": "Nephrotic syndrome, type 11" + }, + { + "baseId": "216939|216940|216941|919395|919396", + "text": "Tremor, hereditary essential, 5" + }, + { + "baseId": "216945|216946|216947|216948|216949|216950|424616|431919|488205|488206|513592|575493|622010|799603|906196", + "text": "Desanto-shinawi syndrome" + }, + { + "baseId": "217180|217181|247551|792786", + "text": "Cholestasis, progressive familial intrahepatic, 5" + }, + { + "baseId": "217214|217215|217216|223700|223701|223702|223703|223707|226893|263823|263824|424643|424644|443148|446882|481501|538961|672218|672219|672220|672221|672301|672302|719566|730100|790161|790162|790163|818152|818153|961506|961507|964190|970199|980907", + "text": "Hypotonia, infantile, with psychomotor retardation and characteristic facies 2" + }, + { + "baseId": "217217|615912", + "text": "Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression" + }, + { + "baseId": "217217", + "text": "SLC25A42-related mitochondrial disorder" + }, + { + "baseId": "217240|217241|217242|217243|217244|481071|677415|789363|918816|918817", + "text": "Robinow syndrome, autosomal dominant 3" + }, + { + "baseId": "217264|217265|217266|217267", + "text": "nonsyndromic cleft palate" + }, + { + "baseId": "217271|217338", + "text": "Deafness, autosomal recessive 68" + }, + { + "baseId": "217280|977279", + "text": "TUBB3-related tubulinopathy" + }, + { + "baseId": "221136|238590|238592|238595|238596|250493|250494|250497|250501|250502|250503|250505|250506|250507|266843|283960|283962|283963|283970|283971|283972|283978|283979|283982|284685|284693|284695|284696|284698|284699|284725|284727|284739|284742|284743|286627|286630|286631|286635|286636|286639|286642|286644|287049|287060|287065|287069|287071|287072|287073|287088|287102|287103|287104|392274|450379|450392|450513|517524|517610|517618|517632|620049|629294|683468|683470|686110|686116|686117|689703|747169|759187|883310|883311|883312|883313|883314|883315|883316|883317|883318|883319|883320|883321|883322|883323|883324|883325|883326|883327|883328|883329|883330|883331|883332|883333|883334|883335|883336|883337|883338|883339|883340|883341|883342|883343|883344|883345|883346|883347|883348|887238|887239|887240", + "text": "ALS2-Related Disorders" + }, + { + "baseId": "221698", + "text": "GARS-Associated Axonal Neuropathy" + }, + { + "baseId": "222607|514007", + "text": "Thoracic scoliosis" + }, + { + "baseId": "222922", + "text": "Schizoaffective disorder, depressive type" + }, + { + "baseId": "222924|222925|590592|590593", + "text": "Cataract 44" + }, + { + "baseId": "222930|222931|578422", + "text": "Seckel syndrome 9" + }, + { + "baseId": "222973|222974|222975|224869|224870|224871|224872|380148|380149|380150|672357|794277|965787|965788|965789|965790|965791|965792|965793|965794|965795|965796|965797|965798|965799|965800|965801|965802|965803|965804|965805|965806|965807|965808|965809|965810|965811|965812|965813|965814|965815|983927", + "text": "Oocyte maturation defect 2" + }, + { + "baseId": "222982|222983", + "text": "Spondylocostal dysostosis 6, autosomal recessive" + }, + { + "baseId": "222985|222986|222987|222988|427813|447876|447878|447880|447882|448030|448039|448097|448105|448168|515850|515879|515886|515891|515969|557311|627824|627825|650546|650748|690594|690595|690596|690597|696719|696720|696722|718956|761908|789109|823946|823947|823948|823949|922010|940632|941934|952405|952406|952407|952408", + "text": "Joubert syndrome 25" + }, + { + "baseId": "222989", + "text": "BAP1 Cancer Syndrome" + }, + { + "baseId": "222995|247394|248601|248602|248603|248606|551309|583114|583115|624054|624055|788863|805023", + "text": "Microcephaly 17, primary, autosomal recessive" + }, + { + "baseId": "222997|285823|285827|286553|286555|286561|288795|288800|289216|366592|614556|977712", + "text": "Mitochondrial DNA depletion syndrome, hepatocerebral form" + }, + { + "baseId": "222997", + "text": "Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)" + }, + { + "baseId": "223017", + "text": "Orofacial cleft 15" + }, + { + "baseId": "223018|223019|223020|223021|223022|223023|223024|223025|538991|790572|972786", + "text": "Spastic paraplegia and psychomotor retardation with or without seizures" + }, + { + "baseId": "223026", + "text": "Hereditary elliptocytosis" + }, + { + "baseId": "223282|223293|223294|223295|362149|362150", + "text": "Spinocerebellar ataxia, autosomal recessive 2" + }, + { + "baseId": "223283", + "text": "LIM DOMAIN ONLY-1 POLYMORPHISM" + }, + { + "baseId": "223284|223285|223286|223287|223288|223289|223290|223291|225845|225881|247070|361202|362425|362426|408530|408531|418971|418972|421902|421904|424623|424631|424659|425221|425222|425950|426745|434766|444923|462433|481412|482012|511031|511971|511972|536069|550620|550621|550622|611408|611409|613867|614045|614607|626212|653881|798652|805724|815996|903586|917105|919413|919414|919415|919416|920311|961617|963747|964373|964374|964375|964376|964377|964378|964674|964675|967275|970949|970950|970951|970952|972837|972840|972841|972954|972955|972956|972957|972958|972959|983786|983788", + "text": "Mental retardation and distinctive facial features with or without cardiac defects" + }, + { + "baseId": "223645|321281|321298|330507|337017", + "text": "VSX2-related Microphthalmia" + }, + { + "baseId": "223669|223669|539075|578548|578549|622444|622445|626256|961336|963176|965235", + "text": "Spinocerebellar ataxia 42" + }, + { + "baseId": "223669", + "text": "CACNA1G-related disorders" + }, + { + "baseId": "223669|265019|415572|550304|626256|626257|778363|860412|919746|919747|919748|919749|971085", + "text": "Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits" + }, + { + "baseId": "223692|223693|223694", + "text": "Wilms tumor 6" + }, + { + "baseId": "223695", + "text": "Vibratory urticaria" + }, + { + "baseId": "223696|223697|223698|223699", + "text": "Combined oxidative phosphorylation deficiency 28" + }, + { + "baseId": "223709|223710|223711|223712|223713|360941|424661|444967|495732|511984|536093|583116|611411|622410|653995|683188|683189|683190|683191|683192|683193|683194|683195|683196|683197|683198|683200|683202|683203|683204|683205|683206|683207|683208|683209|798653|861572|961652|962056|964382|967277|970958|970959", + "text": "Lamb-shaffer syndrome" + }, + { + "baseId": "223714", + "text": "Combined oxidative phosphorylation deficiency 29" + }, + { + "baseId": "223715|223716", + "text": "Hyperphosphatasia with mental retardation syndrome 6" + }, + { + "baseId": "223717|446855|800948", + "text": "Preimplantation embryonic lethality 1" + }, + { + "baseId": "223737", + "text": "Spastic paraplegia, optic atrophy, and neuropathy" + }, + { + "baseId": "223738|578374", + "text": "Microcephaly, short stature, and impaired glucose metabolism 2" + }, + { + "baseId": "223741", + "text": "IgA nephropathy, susceptibility to, 3" + }, + { + "baseId": "223742|612717|614645|614646|614647", + "text": "Muscular dystrophy, limb-girdle, type 2X" + }, + { + "baseId": "223744|919262", + "text": "Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia" + }, + { + "baseId": "223761|223762|223763|223764", + "text": "Inherited bone marrow failure syndrome" + }, + { + "baseId": "223761|223762|223763|223764|247583|609003|609004|790553|798560|802154", + "text": "Bone marrow failure syndrome 3" + }, + { + "baseId": "223765|223766|223767|223768|226382|538444|590310|971025", + "text": "Parkinson disease 23, autosomal recessive early-onset" + }, + { + "baseId": "223771", + "text": "Cachexia" + }, + { + "baseId": "223771", + "text": "Abnormal pattern of respiration" + }, + { + "baseId": "223771|360857|360941|361041|446889|514016|514091|610430|800985|905848", + "text": "Strabismus" + }, + { + "baseId": "223779", + "text": "Hypotonia, infantile, with psychomotor retardation" + }, + { + "baseId": "223780|223781|223782|236862|417867|679342|798822|800680|822287|861587", + "text": "Mental retardation, X-linked, syndromic 34" + }, + { + "baseId": "224306|224450|244161", + "text": "Skeletal myopathy" + }, + { + "baseId": "224411|291085|291103|291104|292062|295393|295411|295594|295618|311739|317301|672229|672230|672231|672232|672233|672297|672298|672299|858554|918512|918513|918515|918516|918517|965294", + "text": "Nephrotic syndrome" + }, + { + "baseId": "224461", + "text": "First degree atrioventricular block" + }, + { + "baseId": "224616|250156|250159|250161|250162|448463|448564|448565|448569|448571|448685|448688|448690|448693|448778|448786|516332|516335|516347|516350|516374|516401|516421|516430|516432|516434|557506|557508|557510|557512|557555|557557|558715|558717|559200|559202|628435|628436|628437|628438|628439|628440|628441|628442|650767|650833|650835|690739|777196|824742|824743|824744|824745|824746|824747|824748|824749|824750|824751|824752|824753|824754|851332|922236|922237|930796|930797|930798|942228|952631", + "text": "Muscular dystrophy, limb-girdle, type 2W" + }, + { + "baseId": "224617", + "text": "MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE" + }, + { + "baseId": "224665|224666|451991", + "text": "Autoimmune disease, multisystem, infantile-onset, 2" + }, + { + "baseId": "224678|224679|224680|224681|224682|224683|224684|224685|224686|224687|224688|224689|224690", + "text": "Monoclonal B-Cell Lymphocytosis" + }, + { + "baseId": "224695|224696|224697", + "text": "Microcephaly, congenital cataract, and psoriasiform dermatitis" + }, + { + "baseId": "224700|224701|226639|226640|226641|226642|226643|226644|226645|226646|226647|226649|226650|226652|226653|226654|226655|226656", + "text": "Cerebral visual impairment and intellectual disability" + }, + { + "baseId": "224706|224707|226069|919424", + "text": "Toriello-Lacassie-Droste syndrome" + }, + { + "baseId": "224708|224709|789841|965210", + "text": "Paget disease of bone 6" + }, + { + "baseId": "224814|224816|244175", + "text": "Short stature, developmental delay, and congenital heart defects" + }, + { + "baseId": "224821|224822|224823|224824|224825|481245|481503|512663|538510|539113|611450|917773|964705|972735|972736", + "text": "Mental retardation, X-linked 99, syndromic, female-restricted" + }, + { + "baseId": "224832|224833", + "text": "Exercise intolerance, riboflavin-responsive" + }, + { + "baseId": "224866|362857|363052", + "text": "MELORHEOSTOSIS, ISOLATED, SOMATIC MOSAIC" + }, + { + "baseId": "224882|224883|439689", + "text": "Brachydactyly, type a1, d" + }, + { + "baseId": "224967|613916|613955|613984|614036", + "text": "Chromosome 17q12 duplication syndrome" + }, + { + "baseId": "224974|919852|919853", + "text": "Cataract 45" + }, + { + "baseId": "225795|466943|466947|466949|467848|467853|467855|467861|468150|468153|468161|468337|468349|531195|531200|531205|531208|574505|646140|652807|652976|694093|694094|694095|695750|704187|740832|845542|845543|845544|845545|845546|845547|845548|845549|928357|928358|938000|938001|938002|940418|949991|949992|949993|949994", + "text": "Atrial fibrillation, familial, 18" + }, + { + "baseId": "225797|225798", + "text": "Anemia, sideroblastic, 4" + }, + { + "baseId": "225802|384424|426751|514320|514322|514324|514325|514326|514327|514327|514328|514329|514330|514336|550126|576328|608922|677043|921237|921238|921243|975943", + "text": "Moderate global developmental delay" + }, + { + "baseId": "225802|590225|590226|590227|590228|590229|590230|790068|798486|918676", + "text": "Autism 5" + }, + { + "baseId": "225802|225802|225802|679897|921238|921240", + "text": "Delayed fine motor development" + }, + { + "baseId": "225802|513910", + "text": "Abnormal brainstem MRI signal intensity" + }, + { + "baseId": "225802|263332", + "text": "Hypoplasia of the frontal lobes" + }, + { + "baseId": "225802", + "text": "Focal cortical dysplasia" + }, + { + "baseId": "225815|263782|263783|361701|362304|362305|362307|362310|362311|362312|362313|407829|481314|535703|551777|672078|679767|790944|816373|816471|963695|964842|980937", + "text": "Hypotonia, ataxia, and delayed development syndrome" + }, + { + "baseId": "225852|514188", + "text": "Edema of the lower limbs" + }, + { + "baseId": "225852|514114|514188", + "text": "Downslanted palpebral fissures" + }, + { + "baseId": "225870|263011|380286|380287|380288|391129|391133|391178|391211|391216|424638|439845|439847|439848|439850|439851|439855|439856|439857|439858|439859|439860|481589|486731|515820|550580|552397|558459|611375|614214|789955|789956|903506|918626|918627|921967|964152|964798|965272", + "text": "Epileptic encephalopathy, early infantile, 54" + }, + { + "baseId": "226044|226045", + "text": "Combined oxidative phosphorylation deficiency 30" + }, + { + "baseId": "226064|226065|226066", + "text": "Even-plus syndrome" + }, + { + "baseId": "226233", + "text": "ARV1-related condition" + }, + { + "baseId": "226235|226236", + "text": "Brainstem dysplasia" + }, + { + "baseId": "226235|226236", + "text": "Heart and brain malformation syndrome" + }, + { + "baseId": "226290|226291", + "text": "Spasticity, childhood-onset, with hyperglycinemia" + }, + { + "baseId": "226331", + "text": "Adenomatous polyposis coli, attenuated" + }, + { + "baseId": "226373|226374|226375|226376|226377|226378|538378|583096|614152|974452", + "text": "Diarrhea 8, secretory sodium, congenital" + }, + { + "baseId": "226400", + "text": "Autosomal dominant familial hypercholesterolemia" + }, + { + "baseId": "226403|226404|226405|226406|226407|610516", + "text": "Exudative retinopathy" + }, + { + "baseId": "226408|226410|226411", + "text": "Duane syndrome type 3" + }, + { + "baseId": "226408|226409|226410|226411|576094", + "text": "Duane syndrome type 1" + }, + { + "baseId": "226409", + "text": "Duane retraction syndrome 3 with or without deafness" + }, + { + "baseId": "226412|226413|426117", + "text": "Spinal muscular atrophy with congenital bone fractures 1" + }, + { + "baseId": "226439", + "text": "Congenital muscular dystrophy with rigid spine" + }, + { + "baseId": "226499", + "text": "GNB1-Related Disorder" + }, + { + "baseId": "226504|434654|513461|906211|906214|976667", + "text": "Chromosome 16p13.2 deletion syndrome" + }, + { + "baseId": "226511|226514|226515|226516|226517|226518", + "text": "Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency" + }, + { + "baseId": "226593", + "text": "Metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" + }, + { + "baseId": "226595", + "text": "Oxyphilic adenoma" + }, + { + "baseId": "226596|226597|226598|226599|226600|226601|420430|539189|539419|679855|799512|965220", + "text": "Immunodeficiency, common variable, 13" + }, + { + "baseId": "226609|226610|226611|226612|226613|226614|237778|237780|406822|511628|514525|611391|611646|611647|918996|918997|918998|918999|919000|970822|970823|972832|972932|972933|972934", + "text": "Mental retardation, autosomal dominant 43" + }, + { + "baseId": "226614", + "text": "HIVEP2-Related Disorder" + }, + { + "baseId": "226615|226616|226617|226618|226619|264757|360579|410763|410768|426344|550643|610412|610413|806079|962194|963910|964532|964895|972845|972994|972995", + "text": "Okur-chung neurodevelopmental syndrome" + }, + { + "baseId": "226644|237016|237784|237785|237787|359325|405245|442892|513409|536089|553144|553145|553146|553147|553148|553149|578385|626113|802123|918653|918654|918655|918656|918657|964160|970702|974565", + "text": "Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart" + }, + { + "baseId": "226648|480556", + "text": "NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE" + }, + { + "baseId": "226648|444451|480557|511828|919210|920272|961294", + "text": "Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive" + }, + { + "baseId": "226654|677382|677383|677399|802109|802110|976670", + "text": "Intellectual developmental disorder 62" + }, + { + "baseId": "226658|226659|226660|226661|226662", + "text": "Chromosome 17p13.1 deletion syndrome" + }, + { + "baseId": "226711|244146|361295|361296|361297|361298", + "text": "Chromosome Xq26.3 duplication syndrome" + }, + { + "baseId": "226718|226719", + "text": "Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia" + }, + { + "baseId": "226722|371648|439515|653883|677328|818143|970961", + "text": "Spondyloepiphyseal dysplasia, stanescu type" + }, + { + "baseId": "226734|226735", + "text": "Advanced sleep phase syndrome, familial, 3" + }, + { + "baseId": "226736", + "text": "Mental retardation, autosomal recessive 52" + }, + { + "baseId": "226737", + "text": "Leukodystrophy, hypomyelinating, 13" + }, + { + "baseId": "226759|226760|919151|919152|920254", + "text": "Encephalocraniocutaneous lipomatosis" + }, + { + "baseId": "226775|226776|677968", + "text": "Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type" + }, + { + "baseId": "226816|291968|488239|488240", + "text": "Hereditary renal cell carcinoma" + }, + { + "baseId": "226843|415883|415884|528769|528776|529250|550369|573216|643112|693661|739570|791440|842238|842239|963787", + "text": "Cleft palate, cardiac defects, and mental retardation" + }, + { + "baseId": "226843", + "text": "MEIS2-related disorder" + }, + { + "baseId": "226845|226846|226847|226848|226849|590323|623339|802211|802212|818330|818331", + "text": "Nephrotic syndrome, type 12" + }, + { + "baseId": "226850|798582", + "text": "Nephrotic syndrome, type 13" + }, + { + "baseId": "226861|513686|578590", + "text": "Pigmentary disorder, reticulate, with systemic manifestations, X-linked" + }, + { + "baseId": "226870|259636|364651|511197|608799|677970|788731|792595|918582|918583|964138|970667|970668|977171", + "text": "Developmental and epileptic encephalopathy, 69" + }, + { + "baseId": "226887|965590", + "text": "Autoinflammation, immune dysregulation, and eosinophilia" + }, + { + "baseId": "226916|226917|612037|612040|678081|798621|969737", + "text": "Epilepsy, idiopathic generalized, susceptibility to, 15" + }, + { + "baseId": "226957|553143|677959", + "text": "Progressive cerebellar ataxia" + }, + { + "baseId": "226957", + "text": "KARS-related disorders" + }, + { + "baseId": "226967|226968|361816|361817|858578|858579", + "text": "Mental retardation, autosomal recessive 58" + }, + { + "baseId": "226967|426271", + "text": "ELP2-Related Disorders" + }, + { + "baseId": "227010|294184", + "text": "Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)" + }, + { + "baseId": "227013|227014|227015|431678", + "text": "Macular dystrophy, patterned, 2" + }, + { + "baseId": "227046|227047|227048|227049|227050|227053|227056|227057|227059|553354|553355|623685", + "text": "Tooth agenesis" + }, + { + "baseId": "227079|227080|511483", + "text": "Exudative vitreoretinopathy 7" + }, + { + "baseId": "227105|227106|227107|227108", + "text": "Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay" + }, + { + "baseId": "227105|227106|227107|227108|539084|583207|626269|800676|802022|855115|919803|961632", + "text": "Periventricular nodular heterotopia 7" + }, + { + "baseId": "227129|227130|227131|227132", + "text": "Thiopurines, poor metabolism of, 2" + }, + { + "baseId": "227129", + "text": "mercaptopurine response - Dosage, Toxicity/ADR" + }, + { + "baseId": "227129", + "text": "azathioprine response - Dosage, Toxicity/ADR" + }, + { + "baseId": "227149|227150|227151", + "text": "Syndromic Infantile Encephalopathy" + }, + { + "baseId": "227242|371260|514566|622024|622025|622026|622027", + "text": "Hypertriglyceridemia" + }, + { + "baseId": "227256", + "text": "Hereditary hypotrichosis simplex" + }, + { + "baseId": "227261|620127|620765", + "text": "TREX1-Related Disorders" + }, + { + "baseId": "227289|252040|252042|298450|298452|298458|298464|298465|298469|298470|298474|298484|298485|298486|298491|298508|298509|300787|300801|300803|300805|300807|300809|300813|300814|300815|300820|300821|305166|305182|305184|305199|305205|305207|305301|305320|305324|305325|305328|305331|305351|305353|305354|305355|305360|305362|305368|305371|620202|620203|620204|895065|895066|895067|895068|895069|895070|895071|895072|895073|895074|895075|895076|895077|895078|895079|895080|895081|895082|895083|895084|895085|895086|895087|895088|895089|895090|895091|895092|895093|895094|895095|895096|895097|895098|895099|895100|895101|896170|896171", + "text": "I blood group system" + }, + { + "baseId": "227347|271424|622847|903583|919386|919387|920300", + "text": "Exudative vitreoretinopathy 4" + }, + { + "baseId": "227427|613840|613841|613842|614122|653993", + "text": "Chromosome 1q21.1 duplication syndrome" + }, + { + "baseId": "227430|227431|227432|227433|227434|227435|724120|799625", + "text": "Immunodeficiency-centromeric instability-facial anomalies syndrome 4" + }, + { + "baseId": "227436|227437|227438|227439", + "text": "Immunodeficiency-centromeric instability-facial anomalies syndrome 3" + }, + { + "baseId": "227440|227441|227442|227443", + "text": "Platelet-type bleeding disorder 20" + }, + { + "baseId": "227444|404643|404644|404646", + "text": "Lopes-Maciel-Rodan syndrome" + }, + { + "baseId": "227447|227448|919813|919814", + "text": "Alzheimer disease, type 9" + }, + { + "baseId": "227447|648879|858701|858704|858705|858707|858708|858711|858712|858715", + "text": "Early-onset Alzheimer's disease" + }, + { + "baseId": "227464|227465", + "text": "Charcot-Marie-Tooth disease, axonal, type 2CC" + }, + { + "baseId": "227467|227468|513219|792757|798572", + "text": "Dyskinesia, limb and orofacial, infantile-onset" + }, + { + "baseId": "227469|227470|513219|792757", + "text": "Striatal degeneration, autosomal dominant 2" + }, + { + "baseId": "227471|227472|227473|363789|363802|406440|438600|438947|439027|453204|453211|453213|453215|453219|453223|453225|453227|453229|453231|453233|453237|453241|453242|453461|453462|453468|453479|453480|453485|453489|453490|453495|453499|453504|453510|453513|453515|453517|453568|453584|453585|453589|453603|453607|453611|453613|453615|453947|453950|453991|453992|453994|454002|454009|454010|519659|519924|519947|519949|519955|519957|519961|519963|519964|519967|519969|519978|519980|519984|520207|520212|520219|520221|520223|520226|520227|520228|520229|520232|520235|520238|520241|520243|520245|520247|520248|520249|559695|559697|559699|559703|559705|559707|559709|559852|559854|559856|559858|559860|559862|561837|562027|562031|562033|562035|563330|563724|563771|563772|563776|563784|563788|563793|589832|590166|632231|632232|632233|632234|632235|632243|632244|632245|632246|632247|632248|632249|632250|632251|632252|632253|632254|632255|632256|632257|632258|632259|632260|691572|698538|698540|698541|698545|698548|709385|709387|709388|709390|720993|744149|748958|748959|764482|764488|764490|764491|764492|779105|781962|781964|781966|781970|787207|798542|798543|829193|829194|829195|829196|829197|829198|829199|829200|829208|829209|829210|829211|829212|829213|829214|829215|829216|829217|829218|829219|829220|829221|829222|829223|851125|851606|923523|923524|923525|923526|923527|923528|923529|923530|923531|923532|923533|932358|932359|932360|932361|932362|932366|932367|932368|932369|932370|932371|932372|940780|944019|944020|944021|944022|944023|944024|944025|944026|944027|944028|944029|953786|953787|953788|953789|953790|953791|960539", + "text": "Mental retardation, autosomal recessive 53" + }, + { + "baseId": "227491", + "text": "Brachydactyly-syndactyly-oligodactyly syndrome" + }, + { + "baseId": "227504", + "text": "Thrombocytopenia 6" + }, + { + "baseId": "227504|361047|513943", + "text": "Osteoporosis" + }, + { + "baseId": "227511|227512|425308|513492|578362|583076|903501|964912|977169|980500", + "text": "Harel-Yoon syndrome" + }, + { + "baseId": "227573|918877", + "text": "Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome" + }, + { + "baseId": "227574|227575|227576|512552|798776|816513|973004", + "text": "Mental retardation, X-linked, syndromic, Bain type" + }, + { + "baseId": "227579|611750|969587", + "text": "MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS" + }, + { + "baseId": "227580|227581|227582|227583|481999|575494|608845|791153|791154|963160|974893|974894|974895|974896|974897|974898|974899|974900|974901", + "text": "Spastic paraplegia 76, autosomal recessive" + }, + { + "baseId": "227598|362286|362287|362288|362289|362290|362291|362292", + "text": "Chronic osteomyelitis" + }, + { + "baseId": "227654|227655", + "text": "Trichothiodystrophy 6, nonphotosensitive" + }, + { + "baseId": "227660", + "text": "Chorea, childhood-onset, with psychomotor retardation" + }, + { + "baseId": "227683|614455|614456|704839|704840|716247|727998|728000|741675|741680|800124|800125|800126|961981|971122|982173|982174", + "text": "Agammaglobulinemia 8, autosomal dominant" + }, + { + "baseId": "227687|406145|439048|451947|451948|452144|452292|452295|452408|511467|511468|518979|519155|519159|535699|558840|559381|562565|614258|614258|615905|650404|650405|650406|650407|650971|651022|651099|697936|743913|744025|781614|790357|790358|790359|790360|827710|827711|827712|827713|827714|827715|827716|906205|923096|923097|931837|931838|943418|943419|953397|964217|970761", + "text": "Pierpont syndrome" + }, + { + "baseId": "227693|227694|227695", + "text": "Increased histidine" + }, + { + "baseId": "227696|227697|227698|227699|227700|227701", + "text": "Pineoblastoma" + }, + { + "baseId": "227702|513442|623048|677011", + "text": "Myopathy, congenital, with tremor" + }, + { + "baseId": "227715|227716", + "text": "Premature ovarian failure 11" + }, + { + "baseId": "227741", + "text": "Bisphosphonates response - Efficacy" + }, + { + "baseId": "227742", + "text": "rituximab response - Efficacy" + }, + { + "baseId": "227743", + "text": "hormonal contraceptives for systemic use response - Toxicity/ADR" + }, + { + "baseId": "227744", + "text": "latanoprost response - Efficacy" + }, + { + "baseId": "227746", + "text": "lamotrigine response - Other" + }, + { + "baseId": "227747", + "text": "atazanavir response - Other" + }, + { + "baseId": "227748", + "text": "cetuximab response - Efficacy" + }, + { + "baseId": "227750", + "text": "oxazepam response - Other" + }, + { + "baseId": "227750", + "text": "lorazepam response - Other" + }, + { + "baseId": "227751", + "text": "nicotine response - Metabolism/PK" + }, + { + "baseId": "227752|227759|227775", + "text": "pravastatin response - Efficacy" + }, + { + "baseId": "227752|227788", + "text": "HMG CoA reductase inhibitors response - Efficacy" + }, + { + "baseId": "227753|227761|227766", + "text": "salbutamol response - Efficacy" + }, + { + "baseId": "227753", + "text": "salmeterol response - Efficacy" + }, + { + "baseId": "227754", + "text": "aspirin response - Toxicity/ADR" + }, + { + "baseId": "227756", + "text": "hmg coa reductase inhibitors response - Efficacy, Toxicity/ADR" + }, + { + "baseId": "227756|963322|963323|963324", + "text": "LIPOPROTEIN(a) POLYMORPHISM" + }, + { + "baseId": "227757", + "text": "etanercept response - Efficacy" + }, + { + "baseId": "227757", + "text": "infliximab response - Efficacy" + }, + { + "baseId": "227757", + "text": "Tumor necrosis factor alpha (TNF-alpha) inhibitors response - Efficacy" + }, + { + "baseId": "227757", + "text": "adalimumab response - Efficacy" + }, + { + "baseId": "227758", + "text": "fluoxetine response - Efficacy" + }, + { + "baseId": "227758|227777|227810", + "text": "Selective serotonin reuptake inhibitors response - Efficacy" + }, + { + "baseId": "227758", + "text": "mirtazapine response - Efficacy" + }, + { + "baseId": "227758|227777|227821", + "text": "antidepressants response - Efficacy" + }, + { + "baseId": "227758", + "text": "venlafaxine response - Efficacy" + }, + { + "baseId": "227758|362497", + "text": "paroxetine response - Efficacy" + }, + { + "baseId": "227761", + "text": "selective beta-2-adrenoreceptor agonists response - Efficacy" + }, + { + "baseId": "227762|227767|227835", + "text": "irinotecan response - Toxicity/ADR" + }, + { + "baseId": "227763", + "text": "MDR1 POLYMORPHISM" + }, + { + "baseId": "227763|227805|227833", + "text": "nevirapine response - Toxicity/ADR" + }, + { + "baseId": "227763", + "text": "digoxin response - Other" + }, + { + "baseId": "227763", + "text": "fentanyl response - Dosage, Efficacy" + }, + { + "baseId": "227764", + "text": "sirolimus response - Dosage" + }, + { + "baseId": "227764", + "text": "cyclosporine response - Dosage, Metabolism/PK" + }, + { + "baseId": "227764", + "text": "tacrolimus response (donor genotype) - Dosage, Metabolism/PK" + }, + { + "baseId": "227764", + "text": "tacrolimus response - Efficacy" + }, + { + "baseId": "227764", + "text": "tacrolimus response (recipient genotype) - Dosage, Metabolism/PK" + }, + { + "baseId": "227764", + "text": "sirolimus response - Metabolism/PK" + }, + { + "baseId": "227768|227792", + "text": "aspirin response - Efficacy" + }, + { + "baseId": "227770", + "text": "clopidogrel response - Dosage, Efficacy, Toxicity/ADR" + }, + { + "baseId": "227770", + "text": "citalopram response - Metabolism/PK" + }, + { + "baseId": "227770", + "text": "escitalopram response - Metabolism/PK" + }, + { + "baseId": "227771", + "text": "warfarin response - Dosage, Toxicity/ADR" + }, + { + "baseId": "227776|227794|227795", + "text": "hydrochlorothiazide response - Efficacy" + }, + { + "baseId": "227777", + "text": "Major depressive disorder, response to citalopram therapy in" + }, + { + "baseId": "227778", + "text": "tenofovir response - Metabolism/PK" + }, + { + "baseId": "227779|227780|227830", + "text": "hmg coa reductase inhibitors response - Toxicity/ADR" + }, + { + "baseId": "227781", + "text": "warfarin response - Efficacy" + }, + { + "baseId": "227789|227809|362500|362501", + "text": "anthracyclines and related substances response - Toxicity/ADR" + }, + { + "baseId": "227791", + "text": "triamcinolone response - Efficacy" + }, + { + "baseId": "227791", + "text": "corticosteroids response - Efficacy" + }, + { + "baseId": "227791", + "text": "fluticasone propionate response - Efficacy" + }, + { + "baseId": "227791", + "text": "fluticasone/salmeterol response - Efficacy" + }, + { + "baseId": "227791", + "text": "budesonide response - Efficacy" + }, + { + "baseId": "227795", + "text": "diuretics response - Efficacy" + }, + { + "baseId": "227797", + "text": "ziprasidone response - Toxicity/ADR" + }, + { + "baseId": "227797", + "text": "paliperidone response - Toxicity/ADR" + }, + { + "baseId": "227797", + "text": "haloperidol response - Toxicity/ADR" + }, + { + "baseId": "227797", + "text": "amisulpride response - Toxicity/ADR" + }, + { + "baseId": "227797", + "text": "quetiapine response - Toxicity/ADR" + }, + { + "baseId": "227797", + "text": "aripiprazole response - Toxicity/ADR" + }, + { + "baseId": "227798", + "text": "boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, simeprevir, and telaprevir response - Efficacy" + }, + { + "baseId": "227800", + "text": "warfarin response - Other" + }, + { + "baseId": "227801|227802", + "text": "peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, and telaprevir response - Efficacy" + }, + { + "baseId": "227801", + "text": "peginterferon alfa-2a, peginterferon alfa-2b, and ribavirin response - Efficacy" + }, + { + "baseId": "227801|362509", + "text": "peginterferon alfa-2b response - Efficacy" + }, + { + "baseId": "227801|362509", + "text": "ribavirin response - Efficacy" + }, + { + "baseId": "227801", + "text": "boceprevir response - Efficacy" + }, + { + "baseId": "227802", + "text": "interferons, peginterferon alfa-2a, peginterferon alfa-2b, and ribavirin response - Efficacy" + }, + { + "baseId": "227806", + "text": "cisplatin response - Efficacy" + }, + { + "baseId": "227806", + "text": "oxaliplatin response - Efficacy" + }, + { + "baseId": "227806", + "text": "platinum response - Efficacy" + }, + { + "baseId": "227806", + "text": "Platinum compounds response - Efficacy" + }, + { + "baseId": "227807", + "text": "platinum response - Toxicity/ADR" + }, + { + "baseId": "227808", + "text": "platinum response - Efficacy, Toxicity/ADR" + }, + { + "baseId": "227808", + "text": "carboplatin response - Efficacy, Toxicity/ADR" + }, + { + "baseId": "227808", + "text": "Platinum compounds response - Efficacy, Toxicity/ADR" + }, + { + "baseId": "227808", + "text": "oxaliplatin response - Efficacy, Toxicity/ADR" + }, + { + "baseId": "227811", + "text": "caffeine response - Toxicity/ADR" + }, + { + "baseId": "227813", + "text": "sildenafil response - Efficacy" + }, + { + "baseId": "227816|227822|227823|227824|227831|227834", + "text": "radiotherapy response - Toxicity/ADR" + }, + { + "baseId": "227817", + "text": "metformin response - Efficacy" + }, + { + "baseId": "227819", + "text": "gemcitabine response - Other" + }, + { + "baseId": "227820", + "text": "risperidone response - Efficacy" + }, + { + "baseId": "227828", + "text": "meperidine response - Dosage" + }, + { + "baseId": "227828", + "text": "pentazocine response - Dosage" + }, + { + "baseId": "227828", + "text": "morphine response - Dosage" + }, + { + "baseId": "227828", + "text": "buprenorphine response - Dosage" + }, + { + "baseId": "227828", + "text": "fentanyl response - Dosage" + }, + { + "baseId": "227828", + "text": "opioids response - Dosage" + }, + { + "baseId": "227829", + "text": "methotrexate response - Efficacy" + }, + { + "baseId": "227830", + "text": "rosuvastatin response - Toxicity/ADR" + }, + { + "baseId": "227830", + "text": "atorvastatin response - Toxicity/ADR" + }, + { + "baseId": "227832", + "text": "etoposide response - Toxicity/ADR" + }, + { + "baseId": "227835", + "text": "atazanavir and ritonavir response - Toxicity/ADR" + }, + { + "baseId": "227836|227837|227838|227839|227840", + "text": "Bartter syndrome, type 5, antenatal, transient" + }, + { + "baseId": "227925", + "text": "Familial Hypophosphatemic Rickets" + }, + { + "baseId": "227927", + "text": "Premature ovarian failure 12" + }, + { + "baseId": "227929", + "text": "CAP-congenital myopathy with arthrogryposis multiplex congenita without heart involvement" + }, + { + "baseId": "227930|227931|227932|227933|264323|264323|310950|423857|480565|790716|790717|792629|805009", + "text": "PERCHING syndrome" + }, + { + "baseId": "227934|227935|227936|227937|227938|227939|227940|227941|227942|227943|227944|227945|227946|227947|227948|227949|227950|227951|227952|227953|227954|227955|227956|227957|227958|227959|227960|227961|227962|227963|227964|227965|227966|227967|227968|227969|227970|227971|227972|227973|227974|227975|227976|227977|227978|227979|227980|227981|227982|227983|227984|227985|227986|227987|227988|227989|227990|227991|227992|227993|227994|227995|227996|227997|227998|227999|228000|228001|228002|228003|228004|228005|228006|228007|228008|228009|228010|228011|228012|228013|228014|228015|228016|228017|228018|228019|228020|228021|228022|228023|228024|228025|228026|228027|228028|228029|228030|228031|228032|228033|228034|228035|228036|228037|228038|228039|228040|228041|228042|228043|228044|228045|228046|228047|228048|228049|228050|228051|228052|228053|228054|228055|228056|228057|228058|228059|228060|228061|228062|228063|228064|228065|228066|228067|228068|228069|228070|228071|228072|228073|228074|228075|228076|228077|228078|228079|228080|228081|228082|228083|228084|228085|228086|228087|228088|228089|228090|228091|228092|228093|228094|228095|228096|228097|228098", + "text": "Abnormality of esophagus morphology" + }, + { + "baseId": "228099", + "text": "Multiple sclerosis" + }, + { + "baseId": "228221", + "text": "Spermatogenic failure 15" + }, + { + "baseId": "228225|228226", + "text": "Spinocerebellar ataxia, autosomal recessive 23" + }, + { + "baseId": "228227|228228|459810|587355|638653|638654|651994|692759|692760|836510|925719", + "text": "Spastic paraplegia 62, autosomal recessive" + }, + { + "baseId": "228229", + "text": "Spinocerebellar ataxia, autosomal recessive 22" + }, + { + "baseId": "228501|551614", + "text": "Usher syndrome, type 1M" + }, + { + "baseId": "229233|262311|262312|262313|438857|709587|920205|961271|963136|980454", + "text": "Aortic aneurysm, familial thoracic 10" + }, + { + "baseId": "230438|230439|918492", + "text": "Autosomal recessive spastic ataxia" + }, + { + "baseId": "230449|335064|337038", + "text": "Hirschsprung Disease, Recessive" + }, + { + "baseId": "230608|496630", + "text": "Idiopathic and/or familial pulmonary arterial hypertension" + }, + { + "baseId": "231319|581215", + "text": "Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis" + }, + { + "baseId": "231647|965275", + "text": "Cerebral hypomyelination" + }, + { + "baseId": "231839|263782|263783|354284|354294|361039|361140", + "text": "Ataxia" + }, + { + "baseId": "231850|262392|262393|262394|262395|263761|265178|265179|333093|361950|361951|361952|361953|361954|373236|424224|424254|904878|904879|904880", + "text": "Behcet's syndrome" + }, + { + "baseId": "232770|233072", + "text": "B Lymphoblastic Leukemia/Lymphoma with t(9" + }, + { + "baseId": "232770|233072", + "text": "22)(q34.1" + }, + { + "baseId": "232770|233072", + "text": "q11.2)" + }, + { + "baseId": "232770|233072", + "text": " BCR-ABL1" + }, + { + "baseId": "233048|550674", + "text": "Duodenal adenocarcinoma" + }, + { + "baseId": "233829|306874|316668|316671|316967|316969|323029|331658|331659|331662|331668|331672|331679|331683|331684|331686|331694|331695|331701|331704|341907|341932|341934|341935|341942|341944|341945|341948|347270|347281|347290|347332|347335|347347|348571|348608|348613|348647|348649|348653|348656|348660|348670|353480|353481", + "text": "Juvenile Polyposis" + }, + { + "baseId": "234717", + "text": "Invasive Breast Carcinoma" + }, + { + "baseId": "236444|263275|639685", + "text": "Colorectal polyposis" + }, + { + "baseId": "236524|236534|550879", + "text": "Heritable Thoracic Aortic Disease" + }, + { + "baseId": "236524|236534", + "text": "Early age onset of sporadic thoracic aortic dissections" + }, + { + "baseId": "236721", + "text": "AP4S1-related disorder" + }, + { + "baseId": "236722", + "text": "APS41-Related disorder" + }, + { + "baseId": "236723|236724|236725|236726|236727|236728|299020|432294|432295|623283|963357", + "text": "Hypercalcemia, infantile, 2" + }, + { + "baseId": "236724", + "text": "SLC34A1-Related Disorders" + }, + { + "baseId": "236767", + "text": "Atrioventricular block, idiopathic second-degree" + }, + { + "baseId": "236794", + "text": "Short QT Syndrome 4" + }, + { + "baseId": "236837|236838|236852", + "text": "Lobar holoprosencephaly" + }, + { + "baseId": "236846", + "text": "Alobar holoprosencephaly" + }, + { + "baseId": "236849|236855|236856", + "text": "Semilobar holoprosencephaly" + }, + { + "baseId": "236861", + "text": "Serum level of adiponectin 1" + }, + { + "baseId": "236863|513257", + "text": "Deafness, autosomal dominant 70" + }, + { + "baseId": "236864", + "text": "Deafness, autosomal dominant 66" + }, + { + "baseId": "236877|236878|550159|550160|550161|550162|550163|626071|626072", + "text": "Deafness, autosomal recessive 32" + }, + { + "baseId": "236880|682580|682582|682583|682584", + "text": "Developmental and epileptic encephalopathy, 81" + }, + { + "baseId": "236882|236883|236884|236885|236886|236887|236888|236889", + "text": "Spondyloepimetaphyseal dysplasia, Genevieve type" + }, + { + "baseId": "236890", + "text": "Cataract Hutterite type" + }, + { + "baseId": "236891|236892|466937|532135|532142|570041|571837|574705|574706|574707|622849|647076|647077|694242|694243|694244|694245|694246|694247|694248|695788|704528|715875|785834|846674|846675|846676|938379|950454|958433", + "text": "Situs inversus totalis" + }, + { + "baseId": "236891|236892|700109|730496|861285|920240|920241", + "text": "Heterotaxy, visceral, 8, autosomal" + }, + { + "baseId": "236924|313219|313220|313223|313240|319379|325499|326446|326455|326461", + "text": "Antenatal Bartter Syndrome" + }, + { + "baseId": "236942|438516|438517|859599|919097|919098", + "text": "Sweeney-Cox syndrome" + }, + { + "baseId": "237072|289545|293412|293416|322708|330040|334414|350417|551991|967232", + "text": "Spermatogenic Failure" + }, + { + "baseId": "237250|253111|253112|253114|253115|253117|253118|253119|253120|253121|253124|253125|253126|253127|253128|253129|253130|253132|253133|253134|253135|253136|253137|253139|253140|253141|253142|253143|305249|305258|305260|305267|305272|305279|305291|305295|305302|305304|305308|305309|305310|305312|305318|305323|305327|305330|309065|309068|309070|309073|309075|309076|309078|309084|309087|309091|309110|309117|309121|309136|309152|309153|309154|309159|309161|309162|309163|309167|314271|314274|314286|314288|314292|314293|314299|314300|314328|314329|314330|314332|314339|314341|314346|314351|314359|314368|314371|314372|314374|314375|314376|314383|314384|314385|314386|314387|314388|314391|314392|314398|314399|314400|314402|314407|314409|314410|314411|314412|314413|314415|314417|314423|314424|314425|314426|609694|609698|711527|723086|723087|736649|736650|736654|751140|751148|751154|751155|766806|799547|799548|899535|899536|899537|899538|899539|899540|899541|899542|899543|899544|899545|899546|899547|899548|899549|899550|899551|899552|899553|899554|899555|899556|899557|899559|899560|899562|899563|899564|899566|899567|899568|899569|899570|899571|899572|899573|899574|899575|899576|899577|899578|899579|899580|899581|899582|899583|899584|899585|899586|899587|899588|899590|899591|899592|899593|899594|899595|899597|899600|899601|899602|899603|899604|899605|899606|900493|900494|900495|900496|900497|900498|900499", + "text": "Spherocytosis" + }, + { + "baseId": "237327|268471|776419", + "text": "Glutaric acidemia type 2A" + }, + { + "baseId": "237378", + "text": "Mitochondrial-DNA disorder" + }, + { + "baseId": "237520|354280", + "text": "Atrial septal defect 1" + }, + { + "baseId": "237522|362622|362623|362624|407131|407132|481277|481278|495323|511710|513425|536188|613829|677426|788816|815987|919104|920587|920588|961284|964833", + "text": "Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder" + }, + { + "baseId": "237539", + "text": "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA" + }, + { + "baseId": "237573|237574|237575|237576|237577|237578|237579|237580|237581|259766|259766|431536|432459|440803|511499|513174|576106|609019|918832|920194|965886|966847|976008", + "text": "Gillespie syndrome" + }, + { + "baseId": "237603|237628|802084", + "text": "Deafness, autosomal dominant 51" + }, + { + "baseId": "237711|237712|237713|237714|237715|237716|237717|237718|237719|237720|237721|237722|237723|237724|237725|237726|237727|237728|237729|237730|237731|237732|237733|237734|237735|237736|237737|237738|237739|237740|237741|237742|237743|237744|237745|237746|237747|237748|237749", + "text": "Prednisolone response" + }, + { + "baseId": "237756|237757|513467|552203|581856|581857|581858|581862|791748", + "text": "Congenital hypomyelinating neuropathy 3" + }, + { + "baseId": "237763|237764|247578|247579", + "text": "Mitochondrial complex 1 deficiency, nuclear type 29" + }, + { + "baseId": "237793|237794|237795|237796|237797|409448|424493", + "text": "You-Hoover-Fong syndrome" + }, + { + "baseId": "237802|237803|237804|237805|431541|792590|904108|919991|962144", + "text": "Immunodeficiency 47" + }, + { + "baseId": "237816|371356|614013|614014|614016|614018|614019|614049|614050|614137|654159", + "text": "Chromosome 15q11-q13 duplication syndrome" + }, + { + "baseId": "237854", + "text": "KCNT2-related condition" + }, + { + "baseId": "237854|683210|683211|789896|794511|975909", + "text": "Developmental and epileptic encephalopathy, 57" + }, + { + "baseId": "238102|238103|238104", + "text": "Monosomy 21" + }, + { + "baseId": "238265|359237|391124|391125|391129|391165|391168|391184|391213|391218|391222|391300|391301|391308|405137|439845|439846|439847|439848|439849|439850|439851|439852|439853|439854|439855|439857|439858|439859|439860|439861|515740|515744|515745|515749|515780|515782|515785|515786|515793|515794|515800|515820|515823|515833|515839|515849|515851|515871|556502|556942|556944|556946|556948|556991|556997|556998|557232|557234|558457|558459|558461|558465|578806|627690|627691|627692|627693|627694|627695|627696|627697|627698|627699|627700|627701|627702|627703|650581|650590|650731|683317|683318|685093|685094|685684|685687|685689|685691|685692|685695|689653|690571|696631|746371|746372|761826|778817|780642|780643|821839|821840|821841|823824|823825|823826|823827|823828|823829|823830|823831|823832|823833|921963|921964|921965|921966|921967|921968|930436|930437|930438|930439|940629|941894|941895|941896|941897|952371|952372|952373|952374", + "text": "heterogeneous nuclear ribonucleoprotein G, human" + }, + { + "baseId": "238719", + "text": "Low grade fibromyxoid sarcoma" + }, + { + "baseId": "239061|292174|353611", + "text": "Hypocalcemia" + }, + { + "baseId": "239296|537417", + "text": "CRELD1-related condition" + }, + { + "baseId": "239498|434459", + "text": "Regorafenib response" + }, + { + "baseId": "239674", + "text": "TERT-associated disorder" + }, + { + "baseId": "240451|311450|392291|414094|414095|414141|414142|414180|414278|538468|539168|539169|539170|539171|539172|539173|539174|539175|539176|539177|539178|539179|539180|539181|539413", + "text": "Pulmonary arterial hypertension associated with congenital heart disease" + }, + { + "baseId": "240683|654531|672222|672223|672224|672225|672226|672227|672228|672239|672240|672255|672256|672311|672312|672313|672317", + "text": "Congenital hydrocephalus" + }, + { + "baseId": "240900|454614|462979", + "text": "Anomalous origin of coronary artery from the pulmonary artery" + }, + { + "baseId": "240900|260878|454614|462979|590054", + "text": "Cough" + }, + { + "baseId": "241527|398855|461811|571612|610483|970956", + "text": "Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency" + }, + { + "baseId": "241578", + "text": "Ataxia, spastic, 1, autosomal dominant" + }, + { + "baseId": "241599|373488|399258|608923|608924|608925|608926|608927|608929|614671|614672|614673|614674|614675|614676|614677", + "text": "Otitis media" + }, + { + "baseId": "242569|401431|422134|445685|467249|467261", + "text": "Skin/hair/eye pigmentation, variation in, 2" + }, + { + "baseId": "243321", + "text": "Autosomal dominant familial acute myeloid leukemia" + }, + { + "baseId": "243381", + "text": "TRPM4-Related Disorders" + }, + { + "baseId": "243654", + "text": "Schwannoma" + }, + { + "baseId": "243654", + "text": "Peripheral Schwannoma" + }, + { + "baseId": "243827", + "text": "Cerebral palsy, spastic quadriplegic, 3" + }, + { + "baseId": "243871|243874|243876|243879|513521|551282|578396|623252|654146|679243|679246|790143|790144|798490|798491|816442|858588|964010|970730|973099|973100", + "text": "Neurodevelopmental disorder with hypotonia, seizures, and absent language" + }, + { + "baseId": "243891|243892|243894|613609|679951", + "text": "Nonsyndromic cleft lip with or without cleft palate" + }, + { + "baseId": "243919|243920|440047|440048|679720|802244|804848|919123|962162|964108|970868", + "text": "Ataxia-pancytopenia syndrome" + }, + { + "baseId": "243919|440047|976561|976562", + "text": "Monosomy 7 of bone marrow" + }, + { + "baseId": "243981|243982|243983|961058|961059|961060|961061", + "text": "Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities" + }, + { + "baseId": "243985", + "text": "Laryngeal hypoplasia" + }, + { + "baseId": "243993", + "text": "Cerebellar cortical atrophy" + }, + { + "baseId": "244016|679678", + "text": "Renal hypoplasia (disease)" + }, + { + "baseId": "244018|360846|971562", + "text": "Language impairment" + }, + { + "baseId": "244020", + "text": "Effort-induced polymorphic ventricular tachycardias" + }, + { + "baseId": "244026|244027|244028|244029|244030|440224|440225|440226", + "text": "Hypermanganesemia with dystonia 2" + }, + { + "baseId": "244031|818308|971001", + "text": "Lethal congenital contracture syndrome 10" + }, + { + "baseId": "244032", + "text": "Arthrogryposis, perthes disease, and upward gaze palsy" + }, + { + "baseId": "244034|244035|905050", + "text": "Retinitis pigmentosa 75" + }, + { + "baseId": "244036", + "text": "Autosomal Recessive Hypotrichosis with Woolly Hair" + }, + { + "baseId": "244066|244067|244068", + "text": "Night blindness, congenital stationary, type 1h" + }, + { + "baseId": "244070|244082", + "text": "Nevus comedonicus" + }, + { + "baseId": "244071|858395|904201", + "text": "Retinal dystrophy with leukodystrophy" + }, + { + "baseId": "244075|244076|244077|977391|977392", + "text": "Pyle metaphyseal dysplasia" + }, + { + "baseId": "244104", + "text": "Mental retardation, autosomal recessive 54" + }, + { + "baseId": "244107|244108|622422|971621|971622", + "text": "Myopathy, distal, 5" + }, + { + "baseId": "244130|244131|244132", + "text": "Patent ductus arteriosus 3" + }, + { + "baseId": "244144|614081", + "text": "Specific language impairment 5" + }, + { + "baseId": "244158|590743|590744", + "text": "PMP2-related Charcot-Marie-Tooth disease type 1" + }, + { + "baseId": "244173|244174", + "text": "X-linked spondyloepimetaphyseal dysplasia" + }, + { + "baseId": "244179", + "text": "Dystonia, intellectual disability and language impairment" + }, + { + "baseId": "244523|305882|309947|315140|315160|315209|315217|315221|315300", + "text": "Charcot-Marie-Tooth with Vocal Cord Paresis" + }, + { + "baseId": "244873|841022|961527|961528|977267", + "text": "DYNC1H1-related neurodevelopmental disorders" + }, + { + "baseId": "245163|263366|800976|920542", + "text": "Neutropenia" + }, + { + "baseId": "246859|535693", + "text": "Diarrhea 9" + }, + { + "baseId": "246941", + "text": "TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome" + }, + { + "baseId": "246962", + "text": "Pseudohypoaldosteronism" + }, + { + "baseId": "246979|263334|394904|394905|431889|520947|521375|551742|551749|633665|683726|792587|963088", + "text": "Hypoplastic left heart syndrome" + }, + { + "baseId": "247012|961777|961778", + "text": "Saccharopinuria" + }, + { + "baseId": "247055|263254|263285|263783|550227|553415|969759", + "text": "Robin sequence" + }, + { + "baseId": "247084", + "text": "CEP290-related ciliopathies" + }, + { + "baseId": "247168|424691|424692|424693|424694|431511|624868|626276|626405|791938|903636|919871|919872|919873|919874|919875|919876|920410|961544|971136|971137|971138", + "text": "Intellectual disability, autosomal dominant 45" + }, + { + "baseId": "247170|359090|359091", + "text": "Dehydrated hereditary stomatocytosis 2" + }, + { + "baseId": "247173", + "text": "Inflammatory bowel disease 30" + }, + { + "baseId": "247328|247329|247330|247331|247332|260464|260465|260466|410844|434679|446312|538493|609241|609242|609243|609244|609245|609246|609247|609248|609249|609250|619906|622475|792006|815961|857694|861659|919933|961643|964545|975941|980395", + "text": "ZTTK syndrome" + }, + { + "baseId": "247359", + "text": "Acute hepatic failure" + }, + { + "baseId": "247359|971088", + "text": "Mitochondrial DNA depletion syndrome 16 (hepatic type)" + }, + { + "baseId": "247400|247401", + "text": "Ossifying fibroma of the jaw" + }, + { + "baseId": "247420|247421|247422", + "text": "Vas deferens, congenital bilateral aplasia of, X-linked" + }, + { + "baseId": "247424|247428", + "text": "Retinal dystrophy with or without extraocular anomalies" + }, + { + "baseId": "247426|247427", + "text": "RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES" + }, + { + "baseId": "247432", + "text": "Blood group antigen abnormality" + }, + { + "baseId": "247437|469318|470285|470288|533432|533513|533992|571140|573458|573462|648566|648567|648568|694988|706478|778566|788297|791967|805111|848195|848196|929138|929139|938902|938903|950976|960309|974505", + "text": "Myasthenic syndrome, congenital, 18" + }, + { + "baseId": "247440|247619", + "text": "Silver-russell syndrome 4" + }, + { + "baseId": "247441|247442|905833|905836", + "text": "Silver-Russell syndrome 5" + }, + { + "baseId": "247450|247451|626248", + "text": "Porokeratosis 7, multiple types" + }, + { + "baseId": "247452|247453", + "text": "Porokeratosis of Mibelli" + }, + { + "baseId": "247468|247469|622518", + "text": "Tooth agenesis, selective, 8" + }, + { + "baseId": "247470|249563|249564|447309|447314|447319|447321|447433|447435|447436|447438|447526|447534|447535|447536|447537|447546|447550|513406|515319|515320|515341|515381|515390|515397|556494|556702|556704|556706|556708|556751|556753|556755|556757|557062|557064|627130|627131|627132|627133|627134|627135|627136|627137|627138|627139|627140|627141|627142|627143|650652|650654|650660|650670|650696|690426|690427|696297|706901|745860|745861|780384|792713|823022|823023|823024|823025|823026|823027|823028|823029|823030|823031|823032|823033|823034|823035|823036|823037|823038|823039|823040|850744|851243|921758|921759|921760|921761|921762|921763|930176|930177|939782|940610|940611|941584|941585|941586|941587|941588|941589|941590|941591|952151|952152|952153|952154|952155|952156|952157|960413", + "text": "Muscular dystrophy, limb-girdle, type 2y" + }, + { + "baseId": "247472", + "text": "Mauriac syndrome" + }, + { + "baseId": "247473|247474", + "text": "MITOCHONDRIAL DNA DEPLETION SYNDROME 3" + }, + { + "baseId": "247481|247482|247483|247484|247485|424624|550857|551435|791485|919597", + "text": "Witteveen-kolk syndrome" + }, + { + "baseId": "247491|247492|247493|247494|247495|247496|247497|353885|443697|511569|535302|611387|623282|626148|654149|798552|818628|818630|861565|861621|964025|964239|964240|964241|964242|964659|964920|967267|969562|970799|977209|977210|977211|977212", + "text": "Mental retardation, autosomal dominant 44" + }, + { + "baseId": "247497|443697|818626|818627|918924|918928|966336|966337", + "text": "Intellectual developmental disorder, autosomal dominant 63, with macrocephaly" + }, + { + "baseId": "247503", + "text": "ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT" + }, + { + "baseId": "247505|247506", + "text": "Parkinson disease 19b, early-onset" + }, + { + "baseId": "247507", + "text": "Epileptic encephalopathy, early infantile, 40" + }, + { + "baseId": "247508|247509|247510|247511|247512|247513|247514|247515|247516|609335|609336|609337|611347|623232", + "text": "Meier-gorlin syndrome 7" + }, + { + "baseId": "247517|361251|470897|471921|471923|472171|472172|472173|534897|534901|534902|534932|572554|574819|574821|575438|650141|650142|653814|694912|850209|939657|959330", + "text": "Wilson-Turner X-linked mental retardation syndrome" + }, + { + "baseId": "247529|965289", + "text": "Muscular dystrophy, congenital, davignon-chauveau type" + }, + { + "baseId": "247530|247531|247532|247533|247534|458427|458428|458434|458441|458445|458447|458452|458899|458902|458906|458940|458950|458951|459422|459431|524371|524372|524378|524641|562847|563569|563574|565588|568320|568565|568567|568574|568577|637790|637791|677157|692598|820078|835580|835581|835582|835583|904228|925410|925411|934575|934576|946398|946399", + "text": "Neuropathy, hereditary sensory and autonomic, type VIII" + }, + { + "baseId": "247538|247539", + "text": "Cardiomyopathy, familial restrictive, 5" + }, + { + "baseId": "247538", + "text": "FLNC-Related Disorders" + }, + { + "baseId": "247540|247543|247544|247545|485919", + "text": "POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE" + }, + { + "baseId": "247542", + "text": "POLYCYSTIC KIDNEY DISEASE 3 WITHOUT POLYCYSTIC LIVER DISEASE" + }, + { + "baseId": "247552|247553|247554|247555|626013", + "text": "Striatonigral degeneration, childhood-onset" + }, + { + "baseId": "247556", + "text": "Hermansky-Pudlak syndrome 10" + }, + { + "baseId": "247557|260444|260445|260945|434657|434658|918497", + "text": "Infantile encephalopathy" + }, + { + "baseId": "247558|247559", + "text": "Hyperuricemic nephropathy, familial juvenile, 4" + }, + { + "baseId": "247561", + "text": "PEHO-like syndrome" + }, + { + "baseId": "247562|480538|480539|626055", + "text": "MICROPHTHALMIA, SYNDROMIC 15" + }, + { + "baseId": "247563|247564|247565|511728|550604|578464|622382|789153|969606|973626|980558", + "text": "Mirage syndrome" + }, + { + "baseId": "247576", + "text": "Camptosynpolydactyly, complex" + }, + { + "baseId": "247581|610633|621029|621030|679775|919332|919333|919334", + "text": "Mental retardation, autosomal recessive 55" + }, + { + "baseId": "247586", + "text": "Nasopalpebral lipoma-coloboma syndrome" + }, + { + "baseId": "247591", + "text": "Nasopharyngeal carcinoma, susceptibility to, 3" + }, + { + "baseId": "247611|414917|496338|537440|795353|795355|918808|918809", + "text": "Spinocerebellar ataxia 43" + }, + { + "baseId": "247614|521968|563348|565353|565356|634520|634521|699279|710143|721689|735386|790576|831470|933146|933147|954332", + "text": "Congenital disorder of glycosylation, type Iaa" + }, + { + "baseId": "247614|480768|480769|480770|798567", + "text": "Intellectual disability, autosomal dominant 55, with seizures" + }, + { + "baseId": "247643", + "text": "Acute myeloid leukemia, M6 type" + }, + { + "baseId": "247749|247750|247751|971553|971554|971555", + "text": "Short-rib thoracic dysplasia 16 with or without polydactyly" + }, + { + "baseId": "247758|247759", + "text": "Pituitary adenoma, familial isolated" + }, + { + "baseId": "247765|247766|247767|247768|247769|247770|550232|550233|626190|816365|816366", + "text": "Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy" + }, + { + "baseId": "247776|247777|576147|679721", + "text": "Ciliary dyskinesia, primary, 34" + }, + { + "baseId": "248477|248477|415438", + "text": "Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia" + }, + { + "baseId": "248477|248477|263624|263625|263626|263627|263628|415438|445389", + "text": "Intellectual developmental disorder with cardiac arrhythmia" + }, + { + "baseId": "248544|248545|248546|248547|248548|248549|248550|248551|248552|248553|248554|248555|248556|248557|248558|248559|248560|248561|248562|248563|248564|248565|248566|248567|248568|248569|262525", + "text": "Oromandibular-limb hypogenesis spectrum" + }, + { + "baseId": "248553|248554|270213|270215|298428|298429|298436|298438|298439|298443|298444|300763|300767|300769|300773|300774|300780|305145|305148|305152|305154|305156|305269|305270|305273|305275|305287|305294|305296|305299|305300|428475|735294|735298|749704|801814|895033|895034|895035|895036|895037|895038|895039|895040|895041|895042|895043|895044|895045|895046|895047|895048|895049|895050|895051|895052|895053|895054|895055|895056|895057|895058|895059|895060|895061|895062|895063|895064", + "text": "Obesity due to SIM1 deficiency" + }, + { + "baseId": "248575|248576|248577", + "text": "Autoinflammation, panniculitis, and dermatosis syndrome" + }, + { + "baseId": "248578|248579|788910|857600", + "text": "Ciliary dyskinesia, primary, 35" + }, + { + "baseId": "248617|248618|248619|248620|248621|248622", + "text": "Senior-Loken syndrome 9" + }, + { + "baseId": "248662", + "text": "Macular dystrophy, patterned, 3" + }, + { + "baseId": "248690|248691", + "text": "Myopathy, myofibrillar, 7" + }, + { + "baseId": "248706|248707|248708|612334|982222", + "text": "Vascular malformation, primary intraosseous" + }, + { + "baseId": "248713|248714|248715", + "text": "Peeling skin syndrome 5" + }, + { + "baseId": "248723|411366|550378", + "text": "CASK-Related Disorder" + }, + { + "baseId": "248784|248785|248786|538630", + "text": "Band heterotopia" + }, + { + "baseId": "248794|248795|248796|248797|409196|529066|550368|568640|802005|858354|920341|961321|961641|964419|971009|971010|972728", + "text": "Epileptic encephalopathy, early infantile, 43" + }, + { + "baseId": "248798|248799|432363|432364|919358|919359|967273", + "text": "Epileptic encephalopathy, early infantile, 41" + }, + { + "baseId": "248809|425254|672077|826217|857359", + "text": "Bardet-Biedl syndrome 20" + }, + { + "baseId": "248811|248812|903599", + "text": "Mental retardation, autosomal recessive 56" + }, + { + "baseId": "248897|248898|248899|248900|248901|438868|464867|465037|465464|465473|465587|465595|465659|465694|465700|466147|466174|466194|466850|466951|466992|467019|467022|467033|467059|467314|495812|529278|529462|529545|529577|529764|529831|529833|530038|530040|530363|530380|530469|530481|530495|530698|530763|530793|530799|530819|530881|530919|530948|530950|530980|530991|567594|567597|568516|569461|569537|569833|569970|570587|570595|570596|570600|570653|570719|570723|570737|570738|573682|573684|573689|573712|574225|574242|625816|643758|643759|643805|643806|643822|643823|643824|643901|643902|643903|643906|643907|645083|645115|645120|645160|645188|645222|645223|645242|645243|645256|652451|652452|652914|652917|653216|703445|715209|726954|739930|740412|740538|744904|745023|754831|754846|778367|785086|791521|805857|820764|820889|820890|820916|820969|820970|820971|820972|820973|842946|842971|842972|842973|842974|842975|842976|842977|842983|842984|842985|842986|842987|842988|843068|843069|843088|843089|843090|843091|844438|844439|844440|844441|844473|844507|844530|844531|844580|844582|844596|844604|844605|844606|844639|844640|844641|844642|844643|844644|844645|844659|851645|851687|852085|852147|852612|852788|919682|927515|927516|927517|927556|927557|928003|928016|937177|937178|937213|937680|937686|937687|937696|937697|937705|937706|949121|949131|949135|949649|949672|949673|949674|949683|957592|957593|957612|957623|964441|964683|964684|967282|971060|971063", + "text": "Epilepsy, familial focal, with variable foci 3" + }, + { + "baseId": "248902|248903|248904|248905|407707|538977|613611|679824|788835|788836|918846|974483|980936", + "text": "Epilepsy, familial focal, with variable foci 2" + }, + { + "baseId": "249126", + "text": "Familial breast and ovarian cancer" + }, + { + "baseId": "249186|249187|249188|249190|417069", + "text": "Noonan syndrome-like disorder with loose anagen hair 2" + }, + { + "baseId": "249205|249206|816532|964598", + "text": "Mental retardation, X-linked 103" + }, + { + "baseId": "249209|249210", + "text": "Orofaciodigital syndrome XV" + }, + { + "baseId": "249216|550890", + "text": "Immunodeficiency 49" + }, + { + "baseId": "249258|249259|590541|590542|789138|903649|919973|964568|971176", + "text": "Mental retardation, X-linked 104" + }, + { + "baseId": "249260|249261|920037", + "text": "Mental retardation, X-linked 105" + }, + { + "baseId": "249426|535240|535242|535244|535245|535246|535252|535253|535254|535261|535267|535268", + "text": "Congenital hemolytic anemia" + }, + { + "baseId": "249498|249500|249502|249503|249504|249505|249506|249507|249508|249510|249511|249512|249513|249514|249515|249516|249517|249518|249520|249521|249522|249523|249524|249525|249526|277166|277168|277179|277180|277191|277192|277194|277195|277214|277219|277220|277221|277222|277225|277248|277249|277250|277252|277253|277254|277257|277260|277262|277263|277270|277272|277273|277294|277416|277422|277423|277427|277428|277435|277443|277444|277452|277454|277458|277459|277466|277467|277468|277471|277472|277474|277480|277482|277486|277489|277492|277494|277498|277504|277505|278219|278222|278240|278256|278260|278261|278262|278263|278264|278267|278268|278269|278270|278271|278278|278280|278281|278288|278289|278291|278295|278297|278298|278305|278307|278309|278310|278312|278316|278317|278318|278325|278328|278329|278330|278332|278334|278336|278338|278340|278341|278342|278343|278350|278351|278352|278360|278364|278373|278374|278383|313035|313037|313079|318938|318970|318974|319574|319585|557032|558220|558220|615287|706851|718365|718370|745824|777016|862698|862699|862700|862701|862702|862703|862704|862705|862706|862707|862708|862709|862710|862711|862712|862713|862714|862715|862716|862717|862718|862719|862720|862721|862722|862723|862724|862725|862726|862727|862728|862729|862730|862731|862732|862733|862734|862735|862736|862737|862738|862739|862740|862741|862742|862743|862744|862745|862746|862747|862748|862749|862750|862751|862752|862753|865026|865027|865028", + "text": "Budd-Chiari syndrome" + }, + { + "baseId": "249812|249813|249814|249816|266292|279711|279718|279719|279721|279724|279731|279733|279734|279736|280000|280002|280004|280007|280021|280030|280048|280049|280051|280061|280062|280064|281321|281323|281327|281330|281331|281333|281339|281345|281348|281355|281519|281523|281524|281532|281534|281538|281540|281543|281545", + "text": "Hypohidrotic Ectodermal Dysplasia, Recessive" + }, + { + "baseId": "250099|281712|282335|283733|283789|284026|284057|284058", + "text": "Acute Recurrent Myoglobinuria" + }, + { + "baseId": "250402|250667|282964|283798|285276|285284|285836|285922|285941|285949|288248|288264|288685|329042|339090|339125|345084|345085|345774|346414|346445", + "text": "Congenital Myasthenic Syndrome, Dominant/Recessive" + }, + { + "baseId": "250588|360836|514140", + "text": "Hyperkalemia" + }, + { + "baseId": "250588|360836|360995|361392|424227", + "text": "Stage 5 chronic kidney disease" + }, + { + "baseId": "250889|289179|292183|292185|292312|493309|518854|518855|630875|630876|708516|708518|827448|827449|923026|931736|943297", + "text": "Hereditary orotic aciduria, type 1" + }, + { + "baseId": "251071|293653|333868|333874|333881|333904|343813|343837|343840|343865|343874|343876|349091|349105|349121|349123|349125|349127|349135|349143|349165|350042|350077|350093|353496", + "text": "Optic Atrophy, Dominant" + }, + { + "baseId": "251558|251559|263522|263523|263524|294065|294068|294075|295522|295523|295524|295526|295533|295534|295535|295539|295542|295543|295545|295546|299289|299290|299292|299293|299300|299307|299310|299321|299322|299323|299324|299325|299326|299327|299330|299331|299339|299340|299341|299347|299348|299350|299352|361021|497683|609037|620174|698618|698619|698620|721056|721057|721058|749048|858321|858322|858323|892105|892106|892107|892108|892109|892110|892111|892112|892113|892114|892115|892116|892117|892118|892119|892120|892121|892122|892123|892124|892125|892126|892127|892128|892129|892130|892131|892132|892133|892134|892135|892136|892137|892138|892139|892140|892141|892142|892143|892144|892145|892146|892147|892148|892149|892150|892151|892152|895991", + "text": "Amelogenesis imperfecta" + }, + { + "baseId": "252058|290768|295268|298774|298775|301236|301242|301266|305609|305612|422029", + "text": "Metaphyseal chondrodysplasia" + }, + { + "baseId": "252382|252383|252384|252385|252386|252387|252392|252394|300444|300454|300455|300459|300460|300461|300470|300473|300474|300485|300489|300493|300500|300503|300504|300505|300510|303302|303309|303310|303319|303329|303331|303361|303362|303364|303369|307787|307805|307812|307819|307820|307826|307827|307842|307843|307874|307880|307893|307894|307901|307902|307910|307913|307973|307977|307982|307991|307996|307998|307999|308001|308029|308034|308035|308038|308050|513063|620234|623290|735697|818249|896533|896534|896535|896536|896537|896538|896539|896540|896541|896542|896543|896544|896545|896546|896547|896548|896549|896550|896551|896552|896553|896554|896555|896556|896557|896558|896559|896560|900237|900238|900239|900240|919035", + "text": "Focal segmental glomerulosclerosis 3, susceptibility to" + }, + { + "baseId": "252960|252961|252964|252965|252966|303552|303557|303560|303561|303562|303566|303568|303570|306979|306988|306989|306996|306998|307003|307005|307010|307011|307013|307014|311871|311876|311877|311882|311883|311886|311887|311888|311891|311895|311896|311899|311904|311907|311910|311912|311913|311914|311917|311920|311926|311929|311930|311931|311942|311946|311949|311950|311954|311955|458038|722719|744375|766441|898468|898469|898470|898471|898472|898473|898474|898475|898476|898477|898478|898479|898480|898481|898482|898483|898484|898485|898486|898487|898488|898489|898490|898491|898492|898493|898494|898495|898496|900410|900411|900412", + "text": "Angiokeratoma corporis diffusum with arteriovenous fistulas" + }, + { + "baseId": "254136|274286|313856|313857|313862|313863|313867|313870|313872|313873|313874|313877|313886|313888|313889|320061|320062|320069|320071|320080|320084|320087|320088|320089|320100|320111|320112|320114|320134|320135|320138|320142|320143|320145|320146|320147|320163|320165|320166|320167|320174|320197|320198|320199|326222|326244|326245|326246|326248|326251|326252|326256|326257|326258|326270|326272|326273|326276|326277|327197|327203|327204|327206|327207|327214|327217|327218|327222|327223|327241|327242|327259|327263|327272|327273|327276|327282|327283", + "text": "Aniridia, Cerebellar Ataxia, And Intellectual Disability" + }, + { + "baseId": "254388|315724|315727|322754|322757|328843|330053|330071|330082", + "text": "Mucolipidosis, Type III Alpha/Beta" + }, + { + "baseId": "254945|320553|320594|329361|337894|399643|400207|400211|445230|464041|464044|566413", + "text": "Premature ovarian failure 15" + }, + { + "baseId": "255299|255300|255301|255302|255303|255304|312054|312057|317720|322878|322883|322884|322886|322889|322895|322898|322902|322904|322909|322910|322915|322917|322920|322921|322924|322928|322932|322936|322937|322938|322942|323745|324453|332378|332391|332412|332420|332421|332426|332427|332429|332446|332447|332461|332464|332468|332471|332480|332485|332487|332515|332525|339375|339377|339378|339381|339383|339384|339396|339405|339419|339439|339443|339453|339460|339476|339479|340813|340831|340834|340836|340840|340841|340846|340857|340866|340876|340888|340892|340898", + "text": "Amelogenesis Imperfecta, Recessive" + }, + { + "baseId": "255412|265437|340066|348872|353333", + "text": "Jarcho-Levin syndrome" + }, + { + "baseId": "255439", + "text": "Arthrogryposis with renal dysfunction and cholestasis syndrome" + }, + { + "baseId": "255586|514055", + "text": "Hyperechogenic kidneys" + }, + { + "baseId": "255755|325092|325093|325427|325468|325469|334748|334755|334758|334760|335073|335105|335114|335115|339526|339530|341231|341233|341234|341235|341560|341563|342742|342743|342753|343056|343057|343061|352425|352943|434692", + "text": "Glycogen phosphorylase kinase deficiency" + }, + { + "baseId": "256261|794298|794299|794300|794301|794302|794303|794304|794305|794306|794307|794308|794309|794310|794311|794312|794313|794314|794315", + "text": "CIC-DUX Sarcoma" + }, + { + "baseId": "256424|257265|257269|257273|257281|257286|299244|299251|299270|299272|299276|301661|301676|301684|301685|301701|306124|306137|306152|306156|306330|306356|306359|306370|306380|315854|334731|344553|345990|349580|350588|353744|389650|460250|654600|790976|963276", + "text": "Familial hemophagocytic lymphohistiocytosis" + }, + { + "baseId": "256566|260583|260584|260585|260586|262271|361807|361808|361809|430044|434540|438065|439065|482162|482163|513651|538472|538473|539077|620934|626319|788920|788921|791848|791849|903628|919786|919787|920387|920388|977285|977286|977287", + "text": "Arthrogryposis, distal, with impaired proprioception and touch" + }, + { + "baseId": "257203", + "text": "FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO" + }, + { + "baseId": "257379|335926|335929|335932|335935|335939|335940|335941|335943|335948|335951|335960|335961|335967|335968|335980|335983|335987|335988|335992|336001|345625|345637|345656|345658|345660|345665|345671|345673|345678|345680|345692|345693|345695|345698|345699|345704|345705|345707|345712|345714|345716|345718|345724|345731|345732|345734|345742|345749|350177|350180|350182|350184|350186|350187|350190|350193|350194|350197|350200|350204|350207|350208|350210|350211|350212|350214|350215|350221|350223|350224|350228|350229|350231|351244|351246|351249|351250|351256|351259|351262|351263|351266|351267|351270|351272|351275|351276|351278|351281|351283|442305|470472|471454|471456|514902|533643|886346|886347|886348|886349|886350|886351|886352|886353|886354|886355|886356|886357|886358|886359|886360|886361|886362|886363|886364|886365|886366|886367|886368|886369|886370|886371|886372|886373|886374|886375|886376|886377|886378|886379|886380|886381|886382|886383|886384|886385|886386|886387|886388|886389|886390|886391|886392|886393|886394|886395|886396|886397|886398|886399|886400|886401|887477|887478", + "text": "Adult proximal spinal muscular atrophy, autosomal dominant" + }, + { + "baseId": "257577|257578|257579|347213|347216|352238|352273", + "text": "Congenital nuclear cataract" + }, + { + "baseId": "257609|337921|337925|337929|347557|347569|347578|347582|351456|351477|352476|352477|352486|353605", + "text": "Fundus dystrophy, pseudoinflammatory, recessive form" + }, + { + "baseId": "257715|622486", + "text": "Congenital Muscular Dystrophy, CHKB-related" + }, + { + "baseId": "257852|286718|287430|289863|353573", + "text": "Ovarian dysgenesis" + }, + { + "baseId": "258009", + "text": "TTN-Related disorder" + }, + { + "baseId": "259117|377393", + "text": "Glucocorticoid deficiency 5" + }, + { + "baseId": "259230|497729", + "text": "Multiple congenital anomalies-hypotonia-seizures syndrome" + }, + { + "baseId": "259237", + "text": "VATER/VACTERL association with CNS malformations" + }, + { + "baseId": "259239|259240|259241|354282|918814", + "text": "Epidermolysis bullosa simplex, generalized, with scarring and hair loss" + }, + { + "baseId": "259290|259291|259292|259293|789368|977224", + "text": "Frontometaphyseal dysplasia 2" + }, + { + "baseId": "259294|259295|259296|259297|672323|677291|917767|963206|980841", + "text": "Cardiospondylocarpofacial syndrome" + }, + { + "baseId": "259325", + "text": "Aniridia 3" + }, + { + "baseId": "259405|267315|268160|270798|373810|445468|513354|578521", + "text": "Macrocephaly with multiple epiphyseal dysplasia and distinctive facies" + }, + { + "baseId": "259624|364478|364483|389107|389108|416152|416153|583075|623226|623227|801571|802117|921033|966154", + "text": "Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies" + }, + { + "baseId": "259696|514048|514112|514124|620168", + "text": "Low-set ears" + }, + { + "baseId": "259696", + "text": "Abnormality of the neck" + }, + { + "baseId": "259696", + "text": "Dysphagia" + }, + { + "baseId": "259742|359062|359063|481555|578403|578404|788756|790288|920466|920467", + "text": "Spastic tetraplegia, thin corpus callosum, and progressive microcephaly" + }, + { + "baseId": "259744", + "text": "DYSF- Related Disorder" + }, + { + "baseId": "259765", + "text": "Abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity" + }, + { + "baseId": "259807|264639", + "text": "neonatal seizures" + }, + { + "baseId": "259861|259864|428715|963326|963327|963328|963329|963330|963331|970522|970523", + "text": "Hamartoma of hypothalamus" + }, + { + "baseId": "259934|536049|536050|964841", + "text": "Heterotaxy, visceral, 7, autosomal" + }, + { + "baseId": "260018|411544|411545|411546|411547|411548|411549|625867|917582|917583", + "text": "Spondylometaphyseal dysplasia - Sutcliffe type" + }, + { + "baseId": "260122|432443|432444|432445|967132|967134", + "text": "Blepharocheilodontic syndrome 1" + }, + { + "baseId": "260246", + "text": "Hip flexor weakness" + }, + { + "baseId": "260246", + "text": "Falls" + }, + { + "baseId": "260246|360912|360933|360934|360970|360971|514007|514152|794110", + "text": "Difficulty walking" + }, + { + "baseId": "260246", + "text": "Qualitative or quantitative defects of collagen 6" + }, + { + "baseId": "260246|271059|970382", + "text": "Bethlem myopathy" + }, + { + "baseId": "260290|446548|623169|623180|963309|984012", + "text": "L1 syndrome" + }, + { + "baseId": "260377|260377|260378|260379|260380|260381|260381|260382|260383|260384|260385|260386|260387|481498|481675|513414|795332|961598|970755", + "text": "Epileptic encephalopathy, early infantile, 44" + }, + { + "baseId": "260377|260381|260388|260389", + "text": "Spinocerebellar ataxia, autosomal recessive 24" + }, + { + "baseId": "260407|260407|260408|260408|260409|260410|260411|433926|442901|448453|448461|448524|448576|448587|448594|448660|448665|516236|516237|516239|516244|516249|516250|516252|516255|516256|516262|516268|516343|516348|516354|516356|540442|557416|557456|557458|557460|557462|557464|557466|557468|557470|557519|557521|557523|557525|558667|558669|558671|558673|558675|558677|558679|559170|559172|609441|650390|650391|650394|650395|650396|650397|650398|650400|650401|650402|650403|690688|690690|690691|690692|690693|690694|690695|690696|690697|690698|695065|695066|695067|719178|719179|732694|762136|778868|780802|819023|819024|819025|824615|824616|824617|824618|824619|824620|824621|824622|824623|824624|824625|824626|824627|824628|824629|922205|922206|922207|922208|922209|922210|930746|930747|930748|942177|942178|952600|952601|952602|952603", + "text": "Myasthenic syndrome, congenital, 20, presynaptic" + }, + { + "baseId": "260444|260445|260945|262040|970866", + "text": "Epileptic encephalopathy, early infantile, 51" + }, + { + "baseId": "260470|260471|260472|918950|964253|972717", + "text": "Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset" + }, + { + "baseId": "260473|260474|260475|260476|260477|260478|513471|513472|797629|860452|917584|917585|917586|917587|917588|917589|917590|917591|917592|917593|917594|917595|917596|917597|917598|917599|917600|917601|917602|917603|917604|917605|917606|917607|917608|917609|917610|917611|917612|917613|917614|917615|917616|917617|917618|917619|917620|961542|963084", + "text": "Leukoencephalopathy, brain calcifications, and cysts" + }, + { + "baseId": "260479|260480|262084|262085|481369|792655", + "text": "MEHMO syndrome" + }, + { + "baseId": "260501|260502|260503|260504", + "text": "Meester-loeys syndrome" + }, + { + "baseId": "260515", + "text": "Left ventricular noncompaction 2" + }, + { + "baseId": "260547|260548|260549", + "text": "GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY" + }, + { + "baseId": "260579|260580|424600|626145|970793|972757", + "text": "Epileptic encephalopathy, early infantile, 45" + }, + { + "baseId": "260789", + "text": "Ulnar/fibular ray defect and brachydactyly" + }, + { + "baseId": "260843|260844|260845|260846|260847|415885|513171|513207|514064|576175|626247|903613|919672|920502|920523", + "text": "Short stature, brachydactyly, intellectual developmental disability, and seizures" + }, + { + "baseId": "260857|513415", + "text": "Epileptic encephalopathy, early infantile, 47" + }, + { + "baseId": "260858|260859|556462|556463|556464|556465|556468|556469|965881|971054", + "text": "Severe combined immunodeficiency due to CARMIL2 deficiency" + }, + { + "baseId": "260878|590054", + "text": "Lymphopenia" + }, + { + "baseId": "260878|360925|465930|465938|466617|466620|466656|466663|466957|485948|530172|530174|530176|530179|530243|530245|530251|530496|530502|530505|530507|530714|530719|534266|568273|570384|570388|570389|570390|570391|570447|570449|574133|590038|590054|644893|644894|644895|644896|644897|644898|644899|644900|644901|644902|644903|644904|644905|644906|644907|644908|644909|644910|644911|644912|644913|644914|644915|644916|644917|644918|644919|652755|653059|715032|716121|726762|726763|726764|740321|740322|740323|740325|755346|755347|760465|771035|771036|789347|805105|805110|815926|815927|844194|844195|844196|844197|844198|844199|844200|844201|844202|844203|844204|844205|844206|844207|844208|844209|844210|844211|844212|844213|844214|852125|904621|927909|927910|927911|927912|927913|927914|937569|937570|937571|937572|949518|949519|949520|949521|949522|957852|977163|977164|977313|977314|977316|983747|983858", + "text": "Immunodeficiency" + }, + { + "baseId": "260878|590054", + "text": "Cor triatriatum dexter" + }, + { + "baseId": "260896|260921|260929", + "text": "Orofacial-digital syndrome III" + }, + { + "baseId": "260904", + "text": "Retinal vascular dystrophy" + }, + { + "baseId": "260978|260979|260980|260981|260982|260983|404809|611418|791272|816525|919465|919466|963767|964854|965924|971567|972726|972729", + "text": "Sifrim-Hitz-Weiss syndrome" + }, + { + "baseId": "262087|262088|262089|626202|794216|965983|965984", + "text": "Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay" + }, + { + "baseId": "262090|590724|590725|590726|677309|791943|802030|903637|963185", + "text": "Epileptic encephalopathy, early infantile, 46" + }, + { + "baseId": "262198|486206", + "text": "Sotos syndrome 3" + }, + { + "baseId": "262230", + "text": "3q29 microdeletion syndrome" + }, + { + "baseId": "262271|578558", + "text": "autosomal recessive PIEZO2 associated disease" + }, + { + "baseId": "262352", + "text": "Infant onset multiple organ failure" + }, + { + "baseId": "262483|262484|262519|262520|262521|262522|262523|262524|359036|359037|362387|362388|362389|362390|362391|362392|614383|614384|964399|964399|980471", + "text": "Ehlers-Danlos syndrome, periodontal type, 2" + }, + { + "baseId": "262483|262484|262519|262520|262521|262522|262523|262524|359036|359037|362387|362388|362389|362390|362391|362392|614385|919468|961869|980472", + "text": "Ehlers-Danlos syndrome, type 8" + }, + { + "baseId": "262636", + "text": "Juvenile onset psychosis" + }, + { + "baseId": "262748|262749|262750|262751|262752|262753|262754|262755|262756|262757|262758|262759", + "text": "16q24.3 microdeletion syndrome" + }, + { + "baseId": "263171|263172", + "text": "Lung damage, immunodeficiency and chromosome breakage syndrome" + }, + { + "baseId": "263171|263172", + "text": "Lung disease, immunodeficiency, and chromosome breakage syndrome" + }, + { + "baseId": "263176", + "text": "Azoospermia" + }, + { + "baseId": "263176|263219|514147|963104", + "text": "Oral cleft" + }, + { + "baseId": "263176", + "text": "Testicular atrophy" + }, + { + "baseId": "263181|362641|362644|802081", + "text": "Anosmia" + }, + { + "baseId": "263185", + "text": "Incomplete partition of the cochlea type II" + }, + { + "baseId": "263185|513985|514023", + "text": "Telangiectasia of the skin" + }, + { + "baseId": "263185", + "text": "Juvenile rheumatoid arthritis" + }, + { + "baseId": "263187|354294", + "text": "Reduced visual acuity" + }, + { + "baseId": "263192", + "text": "Partial duplication of thumb phalanx" + }, + { + "baseId": "263192|514005|514175", + "text": "Clinodactyly" + }, + { + "baseId": "263197|263232|263315|263419|513890|513904", + "text": "17 conditions" + }, + { + "baseId": "263198", + "text": "Widened subarachnoid space" + }, + { + "baseId": "263198|263218|263231|263391|361043|514104|677275", + "text": "Mild global developmental delay" + }, + { + "baseId": "263202", + "text": "Neurological speech impairment" + }, + { + "baseId": "263202", + "text": "Obsessive-compulsive trait" + }, + { + "baseId": "263206|263215", + "text": "21 conditions" + }, + { + "baseId": "263218", + "text": "Impaired visuospatial constructive cognition" + }, + { + "baseId": "263219", + "text": "Nasolacrimal duct obstruction" + }, + { + "baseId": "263219", + "text": "Feeding difficulties in infancy" + }, + { + "baseId": "263224", + "text": "Spina bifida occulta" + }, + { + "baseId": "263224|360978", + "text": "Inguinal hernia" + }, + { + "baseId": "263234|414000|432334|485950|622520", + "text": "Recurrent fractures" + }, + { + "baseId": "263238|263300", + "text": "25 conditions" + }, + { + "baseId": "263239|918956", + "text": "Plagiocephaly" + }, + { + "baseId": "263242", + "text": "Macular hypopigmented whorls, streaks, and patches" + }, + { + "baseId": "263242", + "text": "Global brain atrophy" + }, + { + "baseId": "263244|626449|626450|965430|966614", + "text": "Hypospadias, penile" + }, + { + "baseId": "263251", + "text": "Sensory impairment" + }, + { + "baseId": "263252", + "text": "Oral motor hypotonia" + }, + { + "baseId": "263255|360977|360978|514184|961915|961916|961917", + "text": "Tall stature" + }, + { + "baseId": "263260", + "text": "Tracheomalacia" + }, + { + "baseId": "263269|805144|818379|857360", + "text": "Oligospermia" + }, + { + "baseId": "263269|360850|858734", + "text": "Overgrowth" + }, + { + "baseId": "263269", + "text": "Pneumothorax" + }, + { + "baseId": "263269", + "text": "Decreased testicular size" + }, + { + "baseId": "263270", + "text": "Aplasia of the nose" + }, + { + "baseId": "263270", + "text": "Short chin" + }, + { + "baseId": "263274", + "text": "Dyscalculia" + }, + { + "baseId": "263274|263336|263782|263783|424588|424589|424590|424591|424592|424593|424594|424595|424596|424597|590061|679897", + "text": "Expressive language delay" + }, + { + "baseId": "263274|679483|794110|921237|921239|921240", + "text": "Aggressive behavior" + }, + { + "baseId": "263274", + "text": "Poor fine motor coordination" + }, + { + "baseId": "263275|263283", + "text": "Autism with high cognitive abilities" + }, + { + "baseId": "263279", + "text": "Cerebral white matter hypoplasia" + }, + { + "baseId": "263282", + "text": "Self-injurious behavior" + }, + { + "baseId": "263284", + "text": "Abnormality of calvarial morphology" + }, + { + "baseId": "263284", + "text": "Bronchogenic cyst (disease)" + }, + { + "baseId": "263284", + "text": "Abnormality of the ileum" + }, + { + "baseId": "263288|535230|626420", + "text": "Partial agenesis of the corpus callosum" + }, + { + "baseId": "263289", + "text": "Impaired social interactions" + }, + { + "baseId": "263289", + "text": "Short attention span" + }, + { + "baseId": "263294", + "text": "Hypercoagulability" + }, + { + "baseId": "263297", + "text": "Severe short stature" + }, + { + "baseId": "263303", + "text": "29 conditions" + }, + { + "baseId": "263304|360992|513954|514058|514085|514102|621026|621038|965293", + "text": "Multicystic kidney dysplasia" + }, + { + "baseId": "263304", + "text": "Single umbilical artery" + }, + { + "baseId": "263304", + "text": "Cerebellar dysplasia" + }, + { + "baseId": "263305", + "text": "Drooling" + }, + { + "baseId": "263306|489148|966698", + "text": "Cystic hygroma" + }, + { + "baseId": "263310", + "text": "Severe intrauterine growth retardation" + }, + { + "baseId": "263310", + "text": "Pelvic kidney" + }, + { + "baseId": "263310", + "text": "Abnormal renal morphology" + }, + { + "baseId": "263314", + "text": "Depressed nasal ridge" + }, + { + "baseId": "263314", + "text": "Wide nose" + }, + { + "baseId": "263317|263411|590094", + "text": "23 conditions" + }, + { + "baseId": "263320|538608|538609", + "text": "Bladder exstrophy" + }, + { + "baseId": "263322|404850", + "text": "Microtia" + }, + { + "baseId": "263328", + "text": "EEG with temporal focal spikes" + }, + { + "baseId": "263336", + "text": "Abnormality of facial skeleton" + }, + { + "baseId": "263336", + "text": "Abnormality of the skull" + }, + { + "baseId": "263337", + "text": "Retrognathia" + }, + { + "baseId": "263337", + "text": "Abnormality of the mandible" + }, + { + "baseId": "263340|540053|540054|540055|540056|540057|540058|540059|540060|540061|540062|540063|540064|540065|540066|540067|540068|540069|540070|540071|540072|540073|540074|540075|540076|540077|540078|540079|540080|540081|540082|540083|540084|540085|540086|540087|540088|540089|540090|540091|540092|540093|540094|540095|540096|540097|540098|540099|540100|540101|540102|540103|540104|540105|540106|540107|540108|540109|540110|540111|540112|540113|540114|540115|540116|540117|540118|540119|540120|540121|540122|540123|540124|540125|540126|540127|540128|540129|540130|540131|540132|540133|540134|540135|540136|540137|540138|540139|540140", + "text": "Primary amenorrhea" + }, + { + "baseId": "263341|514143", + "text": "Aplasia of the uterus" + }, + { + "baseId": "263343", + "text": "Oligomenorrhea" + }, + { + "baseId": "263343", + "text": "Aplasia/Hypoplasia of the breasts" + }, + { + "baseId": "263344|590077|590078", + "text": "Patent ductus arteriosus" + }, + { + "baseId": "263344|626449|626450", + "text": "Patent foramen ovale" + }, + { + "baseId": "263345|263373|263379|263396", + "text": "Abnormality of prenatal development or birth" + }, + { + "baseId": "263347", + "text": "Increased body weight" + }, + { + "baseId": "263347|513942", + "text": "Bipolar affective disorder" + }, + { + "baseId": "263349", + "text": "Delayed skeletal maturation" + }, + { + "baseId": "263354|513946", + "text": "Slurred speech" + }, + { + "baseId": "263362", + "text": "Decreased body weight" + }, + { + "baseId": "263364|551352", + "text": "Involuntary movements" + }, + { + "baseId": "263391", + "text": "Chronic constipation" + }, + { + "baseId": "263391|263404", + "text": "Abnormality of the pinna" + }, + { + "baseId": "263410", + "text": "Kyphoscoliosis" + }, + { + "baseId": "263415", + "text": "30 conditions" + }, + { + "baseId": "263420", + "text": "20 conditions" + }, + { + "baseId": "263421|513917", + "text": "Telecanthus" + }, + { + "baseId": "263457|263458|263459|263460|263461|263462", + "text": "Spermatogenic failure 16" + }, + { + "baseId": "263522|263523|263524", + "text": "Amelogenesis imperfecta, hypomaturation type IIA6" + }, + { + "baseId": "263630|263631|263632|263633|263634|263635|481389|798686|802203|802204|858570|904911|963173", + "text": "Lethal congenital contracture syndrome 11" + }, + { + "baseId": "263633|434101|622834|677217|966725", + "text": "Multiple joint contractures" + }, + { + "baseId": "263637|263638|263639|263640|263641|539095|800326|800329", + "text": "Mental retardation, autosomal recessive 57" + }, + { + "baseId": "263642|263643|263644|263645|263646|263647|622304|861282", + "text": "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1" + }, + { + "baseId": "263648|263649|263650|263651|263652|263653|622322|654120|654121|790223|918764|918765|977185", + "text": "Shashi-Pena syndrome" + }, + { + "baseId": "263781", + "text": "16p13.2-p13.13 microduplication syndrome" + }, + { + "baseId": "263784|263785|263786|263787|263788|263789|263790|263791|263792|263793|410312|445926|578555|578556|578557|613102|622918|622919|679802|679803|756345|788919|797634|798727|798728|798729|858576|858577|917280|961630|961631|964883|964884|965291|966186|974529|974530", + "text": "Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum" + }, + { + "baseId": "263800|362294|362295|362296|362297|362298|362300|362301|362302|362303|443527|511518|550597|612474|613827|798955|918865|963553|963555|964024|970780|972715|977203", + "text": "Intellectual developmental disorder with dysmorphic facies and ptosis" + }, + { + "baseId": "263820", + "text": "Developmental and epileptic encephalopathy, 58" + }, + { + "baseId": "263827|440036|440037|440038|511524|550566|550567|550568|550569|551289|789364|918882|918883|965579|970787|971600", + "text": "Intellectual disability, autosomal dominant 50" + }, + { + "baseId": "263832|966215|966216|966217", + "text": "Spermatogenic failure 17" + }, + { + "baseId": "263969|442630", + "text": "GATAD2B-Related Disorder" + }, + { + "baseId": "263969|861610", + "text": "GATAD2B-related intellectual disability syndrome" + }, + { + "baseId": "263996", + "text": "KCNH1-related disorders" + }, + { + "baseId": "264298", + "text": "Dysmorphism" + }, + { + "baseId": "264298", + "text": "Bronchopneumonia" + }, + { + "baseId": "264314|682988|683032", + "text": "Autosomal dominant intermediate Charcot-Marie-Tooth disease" + }, + { + "baseId": "264319|440711", + "text": "Pes valgus" + }, + { + "baseId": "264323", + "text": "Bohring-Opitz-like syndrome" + }, + { + "baseId": "264339|309188|309201|309206|319813|320336", + "text": "Ataxia Neuropathy Spectrum Disorders" + }, + { + "baseId": "264434|362319|362337|568818", + "text": "Malignant migrating partial seizures of infancy" + }, + { + "baseId": "264436", + "text": "Lung carcinoid tumor" + }, + { + "baseId": "264505|620465", + "text": "LIG4-Related Disorders" + }, + { + "baseId": "264567|268878|485926|485927", + "text": "Polycystic liver disease 3 with or without kidney cysts" + }, + { + "baseId": "264780", + "text": "LZTR1-Related Disorder" + }, + { + "baseId": "264781|495314", + "text": "Type III lissencephaly" + }, + { + "baseId": "264781|495314", + "text": "Perisylvian polymicrogyria" + }, + { + "baseId": "264790|360623", + "text": "SHANK3-Related Disorder" + }, + { + "baseId": "264886", + "text": "Autosomal recessive congenital ichthyosis" + }, + { + "baseId": "264907", + "text": "SETBP1-Related Disorder" + }, + { + "baseId": "265231|548902|961879", + "text": "Mucopolysaccharidosistype IIIB" + }, + { + "baseId": "265814|309751|309760|309954|315004|315130", + "text": "Congenital Bile Acid Synthesis Defect" + }, + { + "baseId": "265917|290290|290291|290295|291117|291140|291142|294446|294759|294783|294807|294831|353648|434719", + "text": "Refractory anemia with ringed sideroblasts (clinical)" + }, + { + "baseId": "266181", + "text": "Bilateral cryptorchidism" + }, + { + "baseId": "266181|424978", + "text": "Microphallus" + }, + { + "baseId": "266421", + "text": "COL6A2-related disorder" + }, + { + "baseId": "266655|362641|362642|362643|362644|362645|362646|362647|362648|362649|424974|424975|424976|424977|424978|424979|424980|424981|424982|424983|919791|919792|977289", + "text": "Arrhinia with choanal atresia and microphthalmia syndrome" + }, + { + "baseId": "266844", + "text": "DCTN1-Related Disorders" + }, + { + "baseId": "267083|788813", + "text": "ISPD-Related Disorder" + }, + { + "baseId": "267212|291300|292374|295765|295766|295767|295779", + "text": "Combined Pituitary Hormone Deficiency, Dominant/Recessive" + }, + { + "baseId": "267516|788752", + "text": "COL6A3-related phenotype" + }, + { + "baseId": "268941|613525|613526|613527", + "text": "Cryptophthalmos, unilateral or bilateral, isolated" + }, + { + "baseId": "269933|361051|481389|551433|551434", + "text": "Congenital contracture" + }, + { + "baseId": "270258|275547|439932|551421|551422|551423|624837|624838|677261|677262|677263|677264", + "text": "Scapulohumeral muscular dystrophy" + }, + { + "baseId": "270565|278166|278175|279150|279177|279183|279302|279352", + "text": "Isolated Hyperparathyroidism" + }, + { + "baseId": "270687|513914|514010", + "text": "Fatty replacement of skeletal muscle" + }, + { + "baseId": "271513", + "text": "Genu varum" + }, + { + "baseId": "271861", + "text": "Proximal muscle weakness in lower limbs" + }, + { + "baseId": "271919|275126|363960|454663|454673|454675|454676|454734|454745|454771|454774|455202|455236|455459|455473|520795|521066|521089|521186|521292|564874|587393|622347|633523|683709|683710|683711|683712|683713|683714|683717|683718|685178|685179|685181|686702|686705|691761|691763|721263|830380|830400|830401|830422|830423|851919|932739|932740|932753|932754|944424|944425|944438|954059", + "text": "Infantile dystonia-parkinsonism" + }, + { + "baseId": "272211|318515|318517|318518|318520|318521|318526|318527|326695|326697|326709|326716|332916|334598|342546|342554|353257", + "text": "Centronuclear Myopathy, Dominant" + }, + { + "baseId": "272947", + "text": "Alagille syndrome, ATP8B1 related" + }, + { + "baseId": "273103|320737|320738|320744|329581|329583|329585|329586|336200|336203|336206|336207|338097|338103|338104|338106|353303", + "text": "OTX2-Related Syndromic Microphthalmia" + }, + { + "baseId": "273447|440064", + "text": "SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY" + }, + { + "baseId": "273697|576106", + "text": "Spinocerebellar ataxia type 15/16" + }, + { + "baseId": "274984|424400|424401|424401|424402|424403|424405|452592|452593|452598|452600|452601|452607|452608|452621|452626|452631|452633|452636|452638|452644|452651|452653|452655|452657|452659|452663|452664|452667|452675|452679|452680|452682|452683|452686|452687|452689|452691|452875|452878|452880|452881|452884|452888|452891|452892|452894|452896|452897|452901|452903|452907|452908|452913|452915|452916|452917|452920|452923|452924|452925|452926|452927|452929|452930|452932|452933|452934|452935|452937|452938|452939|452941|452944|452945|452946|452947|452948|452951|452953|452955|452963|452964|452966|452969|452970|452971|452973|452974|452975|452976|452977|452978|452982|452984|452986|452988|452994|452996|452997|453006|453007|453008|453010|453016|453018|453026|453030|453032|453033|453036|453144|453146|453151|453155|453160|453163|453170|453176|453188|453190|453191|453194|453195|453207|453210|453212|453214|453220|453221|453222|453238|453247|453251|453253|453256|453258|453261|453270|453281|453289|453296|453314|453316|453319|453320|453325|453328|519458|519463|519467|519476|519480|519482|519484|519485|519486|519487|519488|519490|519491|519493|519495|519496|519499|519504|519505|519506|519508|519509|519511|519512|519517|519519|519520|519521|519522|519527|519529|519531|519534|519535|519537|519546|519553|519555|519559|519560|519563|519568|519573|519579|519583|519653|519655|519662|519664|519675|519679|519683|519696|519698|519704|519709|519711|519713|519715|519716|519720|519722|519724|519727|519744|519746|519749|519755|519757|519762|519764|519766|519769|519770|519775|519777|519781|519783|519787|519791|519793|519797|519799|519801|559076|559078|559080|559082|559084|559086|559088|559090|559092|559094|559096|559606|559608|559610|559612|559614|559616|559618|559620|559622|559624|559626|559628|559630|559632|559634|559636|561704|561709|561710|561712|561717|561722|561723|561726|561730|561744|561745|561750|563162|563167|563169|563174|563177|563186|563192|563193|563197|563204|578020|631628|631629|631630|631631|631632|631633|631634|631635|631636|631637|631638|631639|631640|631641|631642|631643|631644|631645|631646|631647|631648|631649|631650|631651|631652|631653|631654|631655|631656|631657|631658|631659|631660|631661|631662|631663|631664|631665|631666|631667|631668|631669|631670|631671|631672|631673|631674|631675|631676|631677|631678|631679|631680|631681|631681|631682|631683|631684|631685|631686|631687|631688|631689|631690|631691|631692|631693|631694|631695|631696|631697|691457|691458|691459|691460|691461|691462|691463|691464|691465|691466|691467|691468|695212|695213|698199|698202|698203|698204|698205|698206|698207|698209|698210|698212|698213|698215|698217|698219|698220|698221|698222|698223|708960|708961|708964|708965|708968|708970|708971|720554|720555|720556|720557|720558|720560|720562|720563|720565|720566|734192|734196|734198|734200|734203|743942|744030|748413|748418|748419|748421|748426|759217|759227|764056|764059|764060|764066|764067|764071|764077|774864|777264|777267|777383|779070|781759|781761|781767|781771|828408|828409|828410|828411|828412|828413|828414|828415|828416|828417|828418|828419|828420|828421|828422|828423|828424|828425|828426|828427|828428|828429|828430|828431|828432|828433|828434|828435|828436|828437|828438|828439|828440|828441|828442|828443|828444|828445|828446|828447|828448|828449|828450|828451|828452|828453|850956|851067|851572|851574|857588|857589|923285|923286|923287|923288|923289|923290|923291|923292|923293|923294|923295|923296|923297|923298|923299|923300|923301|923302|932040|932041|932042|932043|932044|932045|932046|932047|932048|932049|932050|932051|932052|932053|940760|943650|943651|943652|943653|943654|943655|943656|943657|943658|943659|943660|943661|943662|943663|943664|943665|943666|943667|953562|953563|953564|953565|953566|953567|953568|959704|984046", + "text": "Spermatogenic failure 18" + }, + { + "baseId": "275543|405860|513918", + "text": "Hereditary nonpolyposis colorectal carcinoma" + }, + { + "baseId": "275544|417650|417652|417653|417655|439920|439921|439922|439923|439924|540863|551399|551400|624829|624830|677210", + "text": "Low alkaline phosphatase" + }, + { + "baseId": "276313|361272|613956|613989|653992|672131|918552", + "text": "1q21.1 recurrent microdeletion" + }, + { + "baseId": "276529|277059|348590", + "text": "Juvenile hemochromatosis" + }, + { + "baseId": "276671|276673|276686|276691|276726|276763|276949|276950|276955|277004|277518|277521|277522|277526|277528|277548|277604|277610|277611|277623|277627|277653|277727|277730|277732|277750|277761|331920|331961|338923|338944|340546|340556", + "text": "Spherocytosis, Recessive" + }, + { + "baseId": "276776|276786|276789|277042|277056|277061|277062|277074|277618|277644|277648|277682|277773", + "text": "Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome" + }, + { + "baseId": "277021|277929|277938|278116", + "text": "Age-related cortical cataract" + }, + { + "baseId": "277054|278133|278135|312079|317744|317745|677478|677479|677480|677481", + "text": "Spondyloepimetaphyseal dysplasia" + }, + { + "baseId": "277189|277190|277193|277897|277898|277899|278001|862587|862588", + "text": "Apolipoprotein A-II deficiency" + }, + { + "baseId": "277426", + "text": "Lung cancer" + }, + { + "baseId": "277497|277499|320737|320744|336200|353303", + "text": "Combined Pituitary Hormone Deficiency, Dominant" + }, + { + "baseId": "278098|278128|278134|278151|278153|278158|279063", + "text": "Hyperprolinemia" + }, + { + "baseId": "278181|278221|278238|279432", + "text": "Mesangiocapillary glomerulonephritis, type II" + }, + { + "baseId": "278248", + "text": "Factor XIII deficiency" + }, + { + "baseId": "278548|278549|278557|278569|278588|278644|278645|278656|278658|278672|278676|278679|279809|279814|279815|279865|279913|279965|279966|279967|279973|279978|279979|283113|283121|283314|337898|347509|347512|351415|351422|352418|352435", + "text": "Parkinson Disease, Recessive" + }, + { + "baseId": "279390", + "text": "CFH-Related Disorders" + }, + { + "baseId": "279499|279511|279525|279526|279538|279571|279577|279772|279778|279779|279823|279851|281080|281103|281104|281198|281208|281211|286491|286513|286566|286567|286570|286571|286574|286576|287198|287218|287275|287304|289524|289540|289580|289615|289636|289996|290004|290006|342710|342733", + "text": "Familial erythrocytosis" + }, + { + "baseId": "281004|281015|282531|292021|293384|293443|293457|296773", + "text": "Renal Hypomagnesemia, Recessive" + }, + { + "baseId": "281045|321108|321109|330235|330237|330257|330288|338733|346275|346276|350532|350533|351571|351575|353095|353305|353588", + "text": "Early-onset autosomal dominant Alzheimer disease" + }, + { + "baseId": "281496|353107", + "text": "Corneal Dystrophy, Dominant/Recessive" + }, + { + "baseId": "281844|281846|281847|281851|281852|281858|281859|281860|281866|281867|281872|281877|281878|281882|281883|281884|281888|281889|282500|282503|282506|282507|282508|282509|282510|282512|282513|282514|282521|282524|282525|284144|284145|284150|284151|284152|284154|284157|284158|284161|284162|284165|284166|284168|284181|284187|284357|284362|284368|284372|284373|284374|284375|284376|284379|284380|284384|284388|284389|284428|284435", + "text": "Lactose intolerance" + }, + { + "baseId": "282038|486871|623098|623099", + "text": "fluorouracil response - Other" + }, + { + "baseId": "282781|285149", + "text": "Cerebral palsy spastic quadriplegic" + }, + { + "baseId": "283062|492849|620009", + "text": "NPHP4-Related Disorders" + }, + { + "baseId": "283136|540578", + "text": "Blue rubber bleb nevus" + }, + { + "baseId": "283818|283833|285439|285465|285842", + "text": "Duane's syndrome" + }, + { + "baseId": "283970|283979|283982|284743|286639|287065|287073|314616|314619|314621|353123|353124", + "text": "Amyotrophic Lateral Sclerosis, Recessive" + }, + { + "baseId": "284729|284732|284737|284740|285403|287631|287632|287635|287862|287863|287865|287866|287872|287873|287876|320533|320538|320539|337831|550215|550220", + "text": "Selective tooth agenesis" + }, + { + "baseId": "284860|285486|285529|287809|288109|302986|307420|307642|413879", + "text": "3-M syndrome" + }, + { + "baseId": "285302", + "text": "Ichthyosis, congenital, autosomal recessive 4B (harlequin)" + }, + { + "baseId": "286219|286231|286234|286939|286957|286958|286963|289274|289292|289293|289628|289633|289635|289671|330539|337117|339038|339058|906005", + "text": "Primary congenital glaucoma" + }, + { + "baseId": "286357", + "text": "Familial Atypical Mycobacteriosis, Autosomal Dominant" + }, + { + "baseId": "286783|286785|286821|289103|289459", + "text": "Xanthinuria" + }, + { + "baseId": "287756|287757|287763|287773|287775|288443|288444|288445|291332|291480|367104|425513|451516|451793|451985|451991|518654|518656|518696|518698|518783|518785|518794|518877|518885|537357|558698|559213|559215|561031|561033|562146|562150|562155|621141|624251|624252|630656|630657|630658|630659|630660|630661|630662|630663|630664|630665|630666|630667|630668|630669|630670|651024|691238|691239|691240|691241|691242|691243|697713|708418|720016|720017|747833|763475|779061|781489|781490|787344|819291|827181|827182|827183|827184|827185|827186|827187|850925|851448|851450|922957|922958|922959|922960|922961|922962|922963|931641|931642|931643|931644|943186|943187|943188|943189", + "text": "ZAP70-Related Severe Combined Immunodeficiency" + }, + { + "baseId": "288124|288863|288876|291805|291811|291813|291910|291921|291925|291927", + "text": "Hereditary essential tremor" + }, + { + "baseId": "289467|289492|292684|292690", + "text": "Retinitis Pigmentosa, Dominant/Recessive" + }, + { + "baseId": "289626|289643|289644|290377|293464|293995|293999|294000|300208", + "text": "3-MCC Deficiency" + }, + { + "baseId": "289693|289714|290450|290472|290485|290486|293545|293548|294144|353647|857675|966850", + "text": "Ectrodactyly" + }, + { + "baseId": "290633|290908|299994|300007|303437|304559|316173|323452|330859", + "text": "Distal hereditary motor neuronopathy" + }, + { + "baseId": "290768|295268|305600|305605|305607|305608|309418|309460|309471|309492|309506|314732|314756|314789|314807|314902|349927|550229", + "text": "Chondrodysplasia" + }, + { + "baseId": "291486|291487|291491|291506|291528|291536|291540|291544|291547|291550|291551|292723|292726|292730|292742|292751|292752|292769|292780|292786|292791|292815|292817|292819|292838|296049|296050|296052|296053|296054|296066|296068|296075|296080|296085|296086|296095|296096|296108|296112|296143|296146|296148|296160|296164|296165|296168|296186|353652", + "text": "Intellectual Disability with Language Impairment and Autistic Features" + }, + { + "baseId": "291598|291633|292886|292960|296241|296285|296299|353653|513583|514016|672257|918956", + "text": "Vesicoureteral reflux" + }, + { + "baseId": "292032|296771", + "text": "Axenfeld-rieger anomaly" + }, + { + "baseId": "292897|292903|292915|294262|294272|294273|297810|297814|297819|310626|315866|322615|322616|322623|322628", + "text": "BH4-Deficient Hyperphenylalaninemia" + }, + { + "baseId": "293096|293159|294525|294542|298033|298080|538368|590769|590770|590771|613968|614004|614086|918868|918890", + "text": "4p partial monosomy syndrome" + }, + { + "baseId": "293322", + "text": "CFI-Related Disorders" + }, + { + "baseId": "294077|295541|295549|299343|329076|329088|345114|345117|346473", + "text": "Amelogenesis Imperfecta, Dominant" + }, + { + "baseId": "294818|296525|296526|300251|300258|300260|300285", + "text": "Sensory Neuropathy with Spastic Paraplegia" + }, + { + "baseId": "295091|295093|295096|295098|296916|296924|296927|300552|300556|300558|300665|300668|300669|300681|353676", + "text": "Leukodystrophy, Adult-Onset" + }, + { + "baseId": "295612|295616|297372|301288|301457|353678|575496", + "text": "Distal myopathy" + }, + { + "baseId": "295661", + "text": "Hyperthyroxinemia, dysalbuminemic" + }, + { + "baseId": "295791|295801|295837|295941|295944|295950|295955|297605|297612|297661|297674|297675|301566|301574|301584|301599|301602|301671|301672|301734|301751|301758|301772|301775|301778|301780|301790|301866|301871", + "text": "Craniometaphyseal dysplasia" + }, + { + "baseId": "295791|295801|295837|295941|295944|295950|295955|297605|297612|297661|297674|297675|301566|301574|301584|301599|301602|301671|301672|301734|301751|301758|301772|301775|301778|301780|301790|301866|301871", + "text": "Chondrocalcinosis" + }, + { + "baseId": "296421|296456|302452|302691", + "text": "Treacher Collins Syndrome, Dominant" + }, + { + "baseId": "296470|434560", + "text": "Acute Porphyria" + }, + { + "baseId": "296638|298531|338796|338799|348400|348414|348437|348443|352024|352027|352031|352034|352035|352737|352738|352739|352740|352742|352743|353862", + "text": "Lymphoproliferative syndrome" + }, + { + "baseId": "297688|297692|297693|297694|297697|297698|297704|297707|297708|297714|297716|297722|297723|297730|297733|297734|297736|297741|297745|297748|297752|297756|297762|297765|297766|297767|297771|297772|297776|297779|297780|297781|297788|297797|297798|297799|297805|297807|299875|299877|299893|299894|299896|299914|299925|299927|299929|299931|299939|299940|299941|299945|299947|299949|299950|299951|299955|299960|299962|299965|299967|299970|299971|299972|299984|304058|304059|304064|304069|304070|304071|304073|304075|304077|304078|304079|304080|304084|304085|304090|304101|304102|304110|304115|304118|304119|304120|304123|304130|304133|304134|304141|304142|304143|304154|304155|304158|304159|304168|304169|304171|304176|304191|304201|304202|304203|304411|304412|304415|304417|304419|304422|304423|304424|304426|304428|304429|304436|304437|304438|304441|304442|304445|304447|304448|304449|304451|304453|304458|304469|304471|304474|304475|304481|304482|304488|304490|304493|304494|304496|304497|304498|304507|304521|304522|735128|790563|894421|894422|894423|894424|894425|894426|894427|894428|894429|894430|894431|894432|894433|894434|894435|894436|894437|894438|894439|894440|894441|894442|894443|894444|894445|894446|894447|894448|894449|894450|894451|894452|894453|894454|894455|894456|894457|894458|894459|894460|894461|894462|894463|894464|894465|894466|894467|894468|894469|894470|894471|894472|894473|894474|894475|894476|894477|894484|894485|894487|894488|894489|894491|894492|896114|896115|896116", + "text": "Platelet-type bleeding disorder 9" + }, + { + "baseId": "297720|301638|443707|633559|915005|915006|915007|915008|915009", + "text": "Susceptibility to nonsyndromic otitis media" + }, + { + "baseId": "298067|304539|304545|304549|304586|304588|304832|304843|304860|304890|304891|304892", + "text": "Striatal Degeneration" + }, + { + "baseId": "298149|298164|298165|298173|302208|302439|302480|302486|302487|321763|331064|331098|337834|339817|339910", + "text": "Achondrogenesis" + }, + { + "baseId": "298149|298164|298165|298173|302208|302439|302480|302486|302487", + "text": "Atelosteogenesis" + }, + { + "baseId": "298362|298377|298378|298388|300646|300655|300690|300691|304999|305015|305016|305020|305065|305082|305088|305200|305209|305235", + "text": "Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations" + }, + { + "baseId": "298502|298504|298510|300802|305165|305186|353739", + "text": "Adult i blood group with or without congenital cataract" + }, + { + "baseId": "298591|302698|302716|302728|303023|303031", + "text": "Familial Atypical Mycobacteriosis, Autosomal Recessive" + }, + { + "baseId": "298705", + "text": "Hyperparathyroidism 4" + }, + { + "baseId": "298732|305568|578440", + "text": "FIG4-Related Disorders" + }, + { + "baseId": "298997|299002|299010|299023|299038|299788|299874|299882|301490|305803|305804|305807|305834|305835|305850|305856|305868|306031|306033|306046|306081|306100|353673|353743", + "text": "Hypophosphatemic Rickets, Recessive" + }, + { + "baseId": "299551|302086|302108|306529|306800|306813", + "text": "Parkinson Disease, Juvenile" + }, + { + "baseId": "299835|302415|302421|306831|306838|306848|306853|307133|307137|307138|654413", + "text": "Trichohepatoenteric syndrome" + }, + { + "baseId": "300173|307361|307363|307369|307578", + "text": "Choroidal Dystrophy" + }, + { + "baseId": "300173|307361|307363|307369|307578", + "text": "Vitelliform macular dystrophy" + }, + { + "baseId": "300174", + "text": "PEX6 POLYMORPHISM" + }, + { + "baseId": "300241|300244|300245", + "text": "Treacher Collins Syndrome, Recessive" + }, + { + "baseId": "300941|308567|308577|308607", + "text": "Stickler Syndrome, Recessive" + }, + { + "baseId": "300968|300969", + "text": "Corneal Dystrophy, Dominant" + }, + { + "baseId": "302011|513576", + "text": "AGK-Related Disorders" + }, + { + "baseId": "303612|303655|307094|329115|329116|329117|329118|329119|329120|329121|329133|329136|329137|339236|339242|339248|345143|345153|346516|346533|346537|346539|346540|346545|346569", + "text": "Osteogenesis Imperfecta, Dominant" + }, + { + "baseId": "303959|303972|304052|307523|307580|307638|307639|307643|312524|312531|312578|312592|312617|312627|312658|312670|312678|312712|312791|312792", + "text": "Trichorhinophalangeal syndrome" + }, + { + "baseId": "304081|307646|312825|327530|353822|353823", + "text": "Hereditary Multiple Osteochondromatosis" + }, + { + "baseId": "304344|313094", + "text": "Thyroid dyshormonogenesis" + }, + { + "baseId": "304422|440020", + "text": "Fetal and neonatal alloimmune thrombocytopenia" + }, + { + "baseId": "304821", + "text": "HR-Related Disorders" + }, + { + "baseId": "304863|313665", + "text": "Alopecia universalis" + }, + { + "baseId": "305780|305788|309798|315034|315167|353842", + "text": "Familial temporal lobe epilepsy 2" + }, + { + "baseId": "305825|305826|305827|309830|309831|309833|309891|309902|309906|315068|315070|315185|315187|320766|320772|329627|329629|338132|338140|338146|338147|338153|353304|353843", + "text": "Branchiootorenal Spectrum Disorders" + }, + { + "baseId": "306222|306223|306229|306254|310358|315626", + "text": "Hypercholanemia" + }, + { + "baseId": "306295|306326|306354|306364|306369|310418|310442|310448|310465|310555|312419|315768|315803|315922|315965|316109|316138|316143|353848", + "text": "Familial High Density Lipoprotein Deficiency" + }, + { + "baseId": "306385", + "text": "Autosomal recessive myogenic arthrogryposis multiplex congenita" + }, + { + "baseId": "307152", + "text": "SETX-Related Disorders" + }, + { + "baseId": "307675", + "text": "POLR1C-Related Disorders" + }, + { + "baseId": "307975|822303", + "text": "Dysequilibrium syndrome" + }, + { + "baseId": "308072|308081|308082|308084|308089|308091|312430|312468|318241|318264|318267|318269|318288|318304|318333|318769|318772|318773", + "text": "Amyotrophic Lateral Sclerosis/Frontotemporal Dementia" + }, + { + "baseId": "308306|349927", + "text": "Acromesomelic dysplasia" + }, + { + "baseId": "308753|308755|308767|308769|308770|308825|308827|313373|313397|313430|313431|319222|319223|319225|319228|319240|319242|319793|319818|319826|319838|319842|319868|441341|441343|441345|441346|441348|441352|441353|441355|444515|444516|508843|577133|638388|684104|684106|684107|684108|684109|684110|684112|684113|684114|684115|684117|684118|684119|684120|685255|685256|685257|685258|685259|685261|685262|687502|687503|687504|687505|687506|687508|687510|687514|687517|687520|687525|687526|687527|687528|687529|687530|687532|687534|687536|687537|687541|687542|687544|687546|689959|689960|692690|692691|692692|692693|701062|751775|767478|793356|793357|836249|978597|978598|978599|978600|978601|978602|978603|978604|978605|978606|978607|978608|978609|978610|978611|978612|978613", + "text": "Choreaacanthocytosis" + }, + { + "baseId": "308951", + "text": "Nonsyndromic Trigonocephaly" + }, + { + "baseId": "308989|361703|361704|361705|361708|361722", + "text": "Craniosynostosis, nonspecific" + }, + { + "baseId": "309261|309264|319840|320338|581825|581826", + "text": "Split-hand/foot malformation" + }, + { + "baseId": "309369|325180|353162", + "text": "Renal Hypomagnesemia, Dominant" + }, + { + "baseId": "309832|309946|309949|314979|320866|321455|514035|514036", + "text": "Megaloblastic anemia" + }, + { + "baseId": "309908", + "text": "Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type" + }, + { + "baseId": "310915|329340|348274|353447|353448|353449", + "text": "Isolated growth hormone deficiency" + }, + { + "baseId": "311110|311116|311117|316391|316412|323186|481315", + "text": "KAT6B-Related Spectrum Disorders" + }, + { + "baseId": "311122|620263", + "text": "GLI3-Related Disorders" + }, + { + "baseId": "311576|311581|311582|311586|311592|311593|317166|317170|323197|323201|323202|323203|323776|353158|682675", + "text": "Moyamoya disease" + }, + { + "baseId": "312348", + "text": "Posterior polar cataract" + }, + { + "baseId": "312525|318500|324613|325351", + "text": "Immunodeficiency due to defect in CD3-gamma" + }, + { + "baseId": "313257|313258|313262|313263|313264|313265|313267|313284|313288|313292|313293|313320|313322|319388|319395|319396|319397|319433|319434|319444|325510|325511|325512|325513|325514|325524|325525|325528|325532|325537|325538|325560|326474|326475|326478|326479|326489|326511|326517|326519|326520|326521|326533|326534|326536", + "text": "Familial hyperaldosteronism" + }, + { + "baseId": "314218|326894", + "text": "Bone Mineral Density Variation" + }, + { + "baseId": "314295|620404", + "text": "RAPSN-Related Disorders" + }, + { + "baseId": "315888|326756|329110|330282|330295|332924|332948|332949|345361|345369|350041|350043|351077|353258", + "text": "Immunodeficiency with Hyper-IgM" + }, + { + "baseId": "316019|359749|502091|624988|625731|904869", + "text": "Hereditary sensory and autonomic neuropathy" + }, + { + "baseId": "316211|326236|335942|335963|335977|339979|341364|342287|353210|353211|353331|353353|353354", + "text": "Hypertyrosinemia" + }, + { + "baseId": "316881|316885|316891|316892|316893|316907|316909|316910|324494|324495|324505|324508|324510|330622|330661|330662|330689|330692|332012|332023|332039|332046|332067|332072|332081|332087|332103", + "text": "Lethal Encephalopathy" + }, + { + "baseId": "316885|316889|316907|316909|316910|324499|324508|324510|324513|324515|324518|329883|329891|330637|330661|330689|330692|330699|330703|332004|332011|332012|332022|332036|332039|332072|332081|332087|332103|332105|332112|979281|979282", + "text": "Mitochondrial myopathy and sideroblastic anemia" + }, + { + "baseId": "316959|316978|317007|332182|332191|976511|976512|976513", + "text": "Congenital fibrosis of extraocular muscles" + }, + { + "baseId": "317085", + "text": "Lethal congenital contracture syndrome" + }, + { + "baseId": "317102|317118|324857|324859|330949|332440|332445", + "text": "Hypophosphatemic Rickets, Dominant" + }, + { + "baseId": "317187|317211|317213|317230|317238|324901|324908|324917|324919|324921|331044|331069|332566|332622|332628|333910", + "text": "Vitamin D-dependent rickets" + }, + { + "baseId": "317382|325213|325217|325219|325221|325228|325230|331430|331436|331437|331445|331447|331449|331459|332850|332851|702337|869920|869921|869922|869923|869924|869925|869926|869927|869928|869929|869930|872250", + "text": "46,XY gonadal dysgenesis, complete, dhh-related" + }, + { + "baseId": "318010|333610", + "text": "Congenital Muscular Dystrophy, ITGA7-related" + }, + { + "baseId": "318132|318139|326142|332311|332318", + "text": "Cutaneous Malignant Melanoma, Dominant" + }, + { + "baseId": "318243|318287|332506|332551|334108|334117|334155", + "text": "Cystic Fibrosis-Like Syndrome" + }, + { + "baseId": "318243|332475|332506|334092|334094|334108|334117", + "text": "Familial Periodic Fever" + }, + { + "baseId": "319018|980688", + "text": "Cerebral hemorrhage" + }, + { + "baseId": "320106|328644|328645|328703|335252|335280|337132", + "text": "Omodysplasia" + }, + { + "baseId": "320172", + "text": "17-Beta-Hydroxysteroid Dehydrogenase III Deficiency" + }, + { + "baseId": "320697|320704|320737|320738|320744|329501|329502|329507|329509|329581|329582|329583|329584|329585|329586|336094|336096|336097|336106|336109|336119|336131|336193|336200|336203|336206|338009|338016|338023|338038|338103|353303", + "text": "Syndromic Microphthalmia, Dominant" + }, + { + "baseId": "320697|329501|329502|336097|336106|338009|338016|338023|626230", + "text": "BMP4-Related Syndromic Microphthalmia" + }, + { + "baseId": "320933", + "text": "Complement component 4, partial deficiency of" + }, + { + "baseId": "321860", + "text": "PI M(MALTON)" + }, + { + "baseId": "321870", + "text": "NODAL-Related Disorders" + }, + { + "baseId": "322495|514090", + "text": "Generalized joint laxity" + }, + { + "baseId": "322495|360798|360810|514090|590084|679897|980658|980729", + "text": "Joint laxity" + }, + { + "baseId": "322981|322984|322997|332528|332537|339529|353321|497250", + "text": "Griscelli syndrome" + }, + { + "baseId": "323349|333028|339866|339884|341294|341295|353329", + "text": "Syndromic Microphthalmia, Recessive" + }, + { + "baseId": "324711|340891|340904|342346", + "text": "Pulmonary Surfactant Metabolism Dysfunction, Recessive" + }, + { + "baseId": "324984|324988|324989|334651|338333", + "text": "Common Variable Immune Deficiency, Recessive" + }, + { + "baseId": "325225", + "text": "46,XY DSD/46,XY CGD" + }, + { + "baseId": "325767|343348", + "text": "Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders" + }, + { + "baseId": "327428|327448|337297|343549|343582", + "text": "Spontaneous pneumothorax" + }, + { + "baseId": "327720|327729|327761|337488|337536|337541|343742|343758|343774|343783|343814|345211", + "text": "Lissencephaly/Subcortical Band Heterotopia" + }, + { + "baseId": "327759|857406", + "text": "Familial Isolated Pituitary Adenomas" + }, + { + "baseId": "328459|839161|977248", + "text": "CTSC-Related Disorders" + }, + { + "baseId": "328660|328662|328672|328673|338624|338631|338649|338655|344704", + "text": "Distal Renal Tubular Acidosis, Dominant" + }, + { + "baseId": "329067|329081|335687|337517", + "text": "Dyskeratosis Congenita, Dominant" + }, + { + "baseId": "329273|353209|496550", + "text": "Brachyolmia" + }, + { + "baseId": "329365|339623|345381|346754|346763", + "text": "Hyperkalemic Periodic Paralysis" + }, + { + "baseId": "330305|330313|340490|340495|340496|340501|340503|340539|346227|347517|347571|353461", + "text": "Hereditary Neuralgic Amyotrophy (HNA)" + }, + { + "baseId": "330328|330333", + "text": "Desbuquois syndrome" + }, + { + "baseId": "331088", + "text": "peginterferon alfa-2b and ribavirin response - Efficacy" + }, + { + "baseId": "331143", + "text": "PI KALSHEKER-POLLER" + }, + { + "baseId": "331477|331499|331556|341769|341794|341816|347117|347157|347167|347192|347225|347227|347244|348441|348448|348458|348479|348482", + "text": "Diarrhea with Microvillus Atrophy" + }, + { + "baseId": "332327|332344|342455|342499|347877|347891", + "text": "Dementia, Deafness, and Sensory Neuropathy" + }, + { + "baseId": "332817", + "text": "SCID, autosomal recessive, T-negative/B-positive type" + }, + { + "baseId": "332857|343034|348373|348380|348386|348392|348394|349551", + "text": "Thyroid Hormonogenesis Defect" + }, + { + "baseId": "333242|333266|343342", + "text": "Microcephaly, Cortical Malformations, and Intellectual Disability" + }, + { + "baseId": "333885", + "text": "GJB6-related disorders" + }, + { + "baseId": "333967|979289", + "text": "Encephalomyopathy with respiratory failure and lactic acidosis" + }, + { + "baseId": "335228|335232|335240|335241|335253|345048|345060|345066|345068|349857|349860|349861|349868|349871|350884|410746|410747|426331|426332|446219|470335|470877|470879|471378|533486|533496|533535|533541|533542|534060|571183|572875|572878|575084|648610|648618|648619|648622|648625|716903|716904|716905|728596|728598|731336|742347|742348|757444|757446|757448|757451|757455|757456|760654|760660|760867|760880|760949|773067|773071|786355|788936|821304|848286|848287|848288|848289|848290|848291|848292|848293|848294|848295|848296|848297|848298|848299|848300|929153|929154|929155|929156|929157|929158|929159|929160|929161|929162|938937|938938|938939|951036|951037|951038|951039|951040|951041|958805|958806|958807|960938", + "text": "Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency" + }, + { + "baseId": "335244|341681|343177|343201|343202|343224", + "text": "Trichoepithelioma, multiple familial, 2" + }, + { + "baseId": "335715|335743|335784|345489|345490|350105|965452", + "text": "Periventricular Heterotopia" + }, + { + "baseId": "335916|335920|335922|335924|335925|345605|345618|345623|350170|350176|351213|351233|351234", + "text": "Phosphoenolpyruvate carboxykinase (GTP) deficiency" + }, + { + "baseId": "335933|335979|336000|345642|345650|345651|345654|345735|345740|345745|345747|350179|350191|350195|350203|350220|351241|351252|351255|351273|351279", + "text": "Spinal Muscular Atrophy, Dominant" + }, + { + "baseId": "336794|336807|336816|343033|343048|343069", + "text": "Malignant Melanoma Susceptibility" + }, + { + "baseId": "337275|337291|337313|337332|337335|337347|337353|337358|337359|337364|337365|337375|337378|337380|337385|337391|337399|337408|337411|337414|337420|337439|337442|337449|337462|346957|346979|346991|347001|347006|347008|347018|347027|347029|347035|347037|347047|347049|347058|347061|351009|351020|351022|351025|351034|351038|351041|351044|351047|351050|351051|351070|351074|351075|351078|351079|351084|351085|351088|351093|351096|351104|351105|351106|352010|352014|352040|352042|352043|352045|352046|352050|352054|352080|352081|352082|352084|352085|352086|352100|352101|352103|352109|352112|352116|352119|352120|352122|352126|352128|352131", + "text": "Familial Candidiasis, Recessive" + }, + { + "baseId": "337612|337623|347191|351203", + "text": "Rhabdoid tumor" + }, + { + "baseId": "337801|337826|339798", + "text": "Cutis Laxa, Dominant/Recessive" + }, + { + "baseId": "338143|338150|338155|338207|347776|347804|347825|347831|347864|351614|351621|351627|351632|351651|352569|352575|352578|352579|352582|352588|352589", + "text": "Nephronophthisis-Like Nephropathy" + }, + { + "baseId": "338350|338355|338358|338365|338370|338371|338373|338376|338385|338395|338396|338412|338414|348012|348013|348016|348018|348021|348022|348023|348024|348026|348027|348031|348034|348035|348039|351746|351748|351749|351752|351753|351756|351757|351760|352625|352626|352627|352628|352629|352630|352632|620692|620693|620694|891389|891390|891391|891392|891393|891394|891395|891396|891397|891398|891399|891400|891401|891402|891403|891404|891405|891406|891407|891408|891409|891410|891411|891412|891413|891414|891415|891416|891417|891418|891419|891420|891845|891846|891847|891848|891849", + "text": "Fatty liver disease, nonalcoholic 1" + }, + { + "baseId": "338402|338413|348038|352631", + "text": "Susceptibility to Nonalcoholic Fatty Liver Disease" + }, + { + "baseId": "338589|338594|344649|346069|346070", + "text": "Sclerosing Bone Dysplasias" + }, + { + "baseId": "338845", + "text": "Infantile Nystagmus" + }, + { + "baseId": "339355", + "text": "anastrozole response - Efficacy" + }, + { + "baseId": "339355", + "text": "docetaxel response - Efficacy" + }, + { + "baseId": "339355", + "text": "doxorubicin response - Efficacy" + }, + { + "baseId": "339355", + "text": "epirubicin response - Efficacy" + }, + { + "baseId": "339355", + "text": "exemestane response - Efficacy" + }, + { + "baseId": "339355|362508", + "text": "fluorouracil response - Efficacy" + }, + { + "baseId": "339355", + "text": "paclitaxel response - Efficacy" + }, + { + "baseId": "339355", + "text": "radiotherapy response - Efficacy" + }, + { + "baseId": "339355", + "text": "tamoxifen response - Efficacy" + }, + { + "baseId": "339387|339397|348906|348909|348910|348911|348930|348946|348951|348952|348957|352293|352295|352298|352316|352333|352901|352904|352908|352910|352914|353867", + "text": "Dent's disease" + }, + { + "baseId": "341304", + "text": "Congenital Adrenal Insufficiency" + }, + { + "baseId": "342540|434354|434355|434356|434357|434358", + "text": "Virus-induced diabetes" + }, + { + "baseId": "343296|343312|977282", + "text": "MYH3-Related Disorders" + }, + { + "baseId": "345130|345148|349903", + "text": "Hypermethioninemia" + }, + { + "baseId": "345502", + "text": "SALL4-Related Spectrum Disorders" + }, + { + "baseId": "345546|350137|351180|351185|353585|353586", + "text": "Infantile hypercalcemia" + }, + { + "baseId": "346659|620617", + "text": "RBBP8-Related Disorders" + }, + { + "baseId": "348554|352096|352097|352779|353863", + "text": "Hemophilia B, Factor IX Deficiency" + }, + { + "baseId": "348736|352229", + "text": "Congenital stationary night blindness, X-linked" + }, + { + "baseId": "349148", + "text": "Disease Association NOS" + }, + { + "baseId": "350521", + "text": "APP POLYMORPHISM" + }, + { + "baseId": "351934|351943", + "text": "Charcot-Marie-Tooth, X-linked" + }, + { + "baseId": "351934|351943|352966", + "text": "Nonsyndromic Hearing Loss, X-Linked" + }, + { + "baseId": "352164", + "text": "Hemophilia A, FVIII Deficiency" + }, + { + "baseId": "352627", + "text": "asparaginase response - Toxicity/ADR" + }, + { + "baseId": "352627", + "text": "daunorubicin response - Toxicity/ADR" + }, + { + "baseId": "352627", + "text": "prednisolone response - Toxicity/ADR" + }, + { + "baseId": "352627|538600", + "text": "vincristine response - Toxicity/ADR" + }, + { + "baseId": "353518", + "text": "Cortical pulverulent cataract" + }, + { + "baseId": "353745", + "text": "C2-related disorders" + }, + { + "baseId": "353824", + "text": "Birk-Barel Intellectual Disability Dysmorphism Syndrome" + }, + { + "baseId": "353955|353956|353957", + "text": "Autosomal recessive severe congenital neutropenia" + }, + { + "baseId": "353955|353956|353957|792807", + "text": "Specific granule deficiency 2" + }, + { + "baseId": "353998", + "text": "Epilepsy, benign neonatal, 1, and/or myokymia" + }, + { + "baseId": "354197|354272", + "text": "Fontaine progeroid syndrome" + }, + { + "baseId": "354199|354200|354201|354202|354203|354204|354205|354206|354207", + "text": "Thyroid hemiagenesis" + }, + { + "baseId": "354281", + "text": "Pulmonary atresia with intact ventricular septum" + }, + { + "baseId": "354286|354287|354288", + "text": "Congenital cardiomyopathy" + }, + { + "baseId": "354289|354291", + "text": "Mitochondrial cytopathy" + }, + { + "baseId": "354290", + "text": "Mild liver congestion" + }, + { + "baseId": "354290|514125", + "text": "Episodic vomiting" + }, + { + "baseId": "354292", + "text": "Bilateral lesions of basal ganglia" + }, + { + "baseId": "354294", + "text": "Parkinsonism-plus" + }, + { + "baseId": "354294", + "text": "Atrophy of the brain and cerebellum" + }, + { + "baseId": "354296|354297", + "text": "Hyperlactaemia" + }, + { + "baseId": "354296|354297|446889", + "text": "Muscular hypotonia of the trunk" + }, + { + "baseId": "354297", + "text": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, MITOCHONDRIAL FORM, 1" + }, + { + "baseId": "354298", + "text": "Hepatitis" + }, + { + "baseId": "354298", + "text": "Hepatic steatosis" + }, + { + "baseId": "354298", + "text": "Fibrosis" + }, + { + "baseId": "359035|461414|461426|461588|461590|461930|462253|462256|526456|526463|526747|526989|526993|564867|567480|567485|640391|650389|784160|820412|838917|838918|838919|838920|838921|838922|851459|920301|926369|935755|935756|956638|956639|960011", + "text": "Epilepsy, familial temporal lobe, 8" + }, + { + "baseId": "359044|513451|905063", + "text": "Fanconi anemia, complementation group R" + }, + { + "baseId": "359045|359046", + "text": "Osteogenesis imperfecta, type xvii" + }, + { + "baseId": "359052|513389", + "text": "Syndromic X-linked intellectual disability Shashi type" + }, + { + "baseId": "359054|677062", + "text": "Mitochondrial complex 1 deficiency, nuclear type 30" + }, + { + "baseId": "359059|359060|792487|971225", + "text": "Immunodeficiency 50" + }, + { + "baseId": "359064|359065", + "text": "Myasthenic syndrome, congenital, 21, presynaptic" + }, + { + "baseId": "359066|359067|359068|792703", + "text": "Structural brain anomalies with impaired intellectual development and craniosynostosis" + }, + { + "baseId": "359069|969279", + "text": "Craniosynostosis 6" + }, + { + "baseId": "359070|359071|359072", + "text": "Myopia 25, autosomal dominant" + }, + { + "baseId": "359074|359075", + "text": "Cataract 34, multiple types" + }, + { + "baseId": "359101", + "text": "Fanconi anemia, complementation group V" + }, + { + "baseId": "359102|359103|359104", + "text": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2" + }, + { + "baseId": "359105|359106|513240", + "text": "Encephalopathy, progressive, with amyotrophy and optic atrophy" + }, + { + "baseId": "359107|359108", + "text": "Sedoheptulokinase deficiency" + }, + { + "baseId": "359114|359115|359116|359117|961759", + "text": "3-methylglutaconic aciduria, type VIII" + }, + { + "baseId": "359123", + "text": "Mental retardation, autosomal recessive 50" + }, + { + "baseId": "359125|359126|359127|359128|359129|359130|359132|611602|861671", + "text": "Sudden cardiac failure, infantile" + }, + { + "baseId": "359127|359131", + "text": "Sudden cardiac failure, alcohol-induced" + }, + { + "baseId": "359133|359134|359135|359136|359137", + "text": "Preimplantation embryonic lethality 2" + }, + { + "baseId": "359138|359139|359140|363787|626058|858659", + "text": "Al-Raqad syndrome" + }, + { + "baseId": "359142|359143|359144|359145|359146|359147|361796|361797|361798|361799|406472|421504|453638|453654|453659|453660|453662|453904|453906|454077|454078|454451|454453|454461|454465|454466|481467|520315|520552|520558|520560|520563|520564|520597|520610|520616|520619|520623|538983|550114|559823|559845|559847|559849|559851|559968|562305|562306|562308|564122|564123|564131|564133|564138|564142|632539|632540|632541|632542|632543|632544|632545|632546|632547|632548|632549|632550|632551|632552|651270|651284|651285|651298|651302|691642|695249|698720|734796|749126|764674|790488|829564|829565|829566|829567|829568|829569|829570|829571|829572|829573|829574|829575|829576|829577|829578|829579|904450|923626|932486|932487|932488|932489|932490|939758|939974|944157|944158|944159|953875|953876|953877|953878|960544", + "text": "Neuropathy, hereditary motor and sensory, type 6B" + }, + { + "baseId": "359148|359149|359150|452804|452816|453164|453165|453168|453178|453206|453208|453216|453217|453578|453580|453581|519617|519619|519629|519630|519633|519639|519644|519670|519672|519906|519908|519910|519911|519913|519915|519916|519917|519918|519920|519923|519927|559539|559541|559688|559690|559692|559694|561835|563326|612666|631816|631817|631818|631819|631820|631821|631822|631823|631824|631825|631826|631827|631828|631829|631830|631831|631832|631833|631834|631835|631836|631837|631838|631839|651094|651136|698312|698313|709076|709077|709079|709080|709081|709082|709083|720672|720673|720674|720675|720676|734335|734336|748576|748578|748580|764203|764206|764208|764211|790425|819428|828609|828610|828611|828612|828613|828614|828615|828616|828617|828618|828619|828620|828621|828622|828623|828624|828625|851104|851477|923370|923371|923372|923373|932098|932099|932100|932101|932102|932103|932104|932105|940767|940768|940769|943721|943722|943723|943724|943725|943726|943727|943728|943729|943730|953604|953605|953606|953607|953608|953609|959709|960525", + "text": "Candidiasis, familial, 9" + }, + { + "baseId": "359151|359152|359153|679842|679843|679844", + "text": "Combined oxidative phosphorylation deficiency 26" + }, + { + "baseId": "359165|359166|359167|404745|513191", + "text": "Primary autosomal recessive microcephaly 15" + }, + { + "baseId": "359168", + "text": "Muscular dystrophy, limb-girdle, type 2z" + }, + { + "baseId": "359174|359175|359176|359177|359178|359179|359180|552398|919240", + "text": "Cone-rod dystrophy and hearing loss 1" + }, + { + "baseId": "359181|359182|359183|359184|359185", + "text": "Lissencephaly 8" + }, + { + "baseId": "359186|359187|359188|359189|359190|622409", + "text": "Myopathy, myofibrillar, 8" + }, + { + "baseId": "359191|359192|802256", + "text": "Ventricular tachycardia, catecholaminergic polymorphic, 3" + }, + { + "baseId": "359193|359194", + "text": "Seckel syndrome 10" + }, + { + "baseId": "359214|361127", + "text": "dysmorphy" + }, + { + "baseId": "359518|620158", + "text": "PROM1-Related Disorders" + }, + { + "baseId": "359552|360867", + "text": "Erythroderma" + }, + { + "baseId": "359708|551483", + "text": "Mungan syndrome" + }, + { + "baseId": "359762", + "text": "Rectal prolapse" + }, + { + "baseId": "359762", + "text": "Stress urinary incontinence" + }, + { + "baseId": "359762|485953", + "text": "Secundum atrial septal defect" + }, + { + "baseId": "359788", + "text": "BRAT1-associated neurodegenerative disorder" + }, + { + "baseId": "359832|407888|411619", + "text": "Retinitis pigmentosa 79" + }, + { + "baseId": "359832|407887|407888|590982|903568", + "text": "Neurodevelopmental disorder with visual defects and brain anomalies" + }, + { + "baseId": "359990|590707|590708|610626|610627|623108|623109|623110|791144|917770|917778|974494", + "text": "Cardiac-urogenital syndrome" + }, + { + "baseId": "360150|919607", + "text": "Hypopigmentation, organomegaly, and delayed myelination and development" + }, + { + "baseId": "360260|424588|424590|424592|424594|424595|677059|678074|788914|816529|903623|919764|919765|920380|961338|964922", + "text": "Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies" + }, + { + "baseId": "360454|420010|420017", + "text": "Retinal dystrophy with or without macular staphyloma" + }, + { + "baseId": "360576|434678|495875", + "text": "PIGT-related disorder" + }, + { + "baseId": "360579", + "text": "CSNK2A1- Related Disorders" + }, + { + "baseId": "360798|360810|360916|361025", + "text": "Pain" + }, + { + "baseId": "360799", + "text": "Vitiligo" + }, + { + "baseId": "360799", + "text": "EMG: axonal abnormality" + }, + { + "baseId": "360805", + "text": "Abdominal colic" + }, + { + "baseId": "360806|800787", + "text": "EMG: neuropathic changes" + }, + { + "baseId": "360806", + "text": "Limb muscle weakness" + }, + { + "baseId": "360807|361005|445123|590074|590075|679509|679510|679511|679512|679513", + "text": "Respiratory distress" + }, + { + "baseId": "360809|360926", + "text": "Fever" + }, + { + "baseId": "360809|590545|619855|966700", + "text": "Pleural effusion" + }, + { + "baseId": "360809|619855", + "text": "Pericardial effusion" + }, + { + "baseId": "360812|360997|568036|581714|801191", + "text": "Myoclonus" + }, + { + "baseId": "360814|439633|439634|439635|514075", + "text": "Abnormality of vision" + }, + { + "baseId": "360814", + "text": "Congenital blindness" + }, + { + "baseId": "360815|360816|445093|610529|610563|610564|610565", + "text": "Retinopathy" + }, + { + "baseId": "360823|360824", + "text": "Pain insensitivity" + }, + { + "baseId": "360825", + "text": "Abnormal liver function tests during pregnancy" + }, + { + "baseId": "360825", + "text": "Intrahepatic Cholestasis" + }, + { + "baseId": "360825", + "text": "Pruritus" + }, + { + "baseId": "360826", + "text": "Prolactin-producing pituitary gland adenoma" + }, + { + "baseId": "360835", + "text": "Stiff skin" + }, + { + "baseId": "360835|513930", + "text": "Arthralgia" + }, + { + "baseId": "360837|360838|481389", + "text": "Breathing dysregulation" + }, + { + "baseId": "360839", + "text": "Clonus" + }, + { + "baseId": "360839", + "text": "Lower limb hyperreflexia" + }, + { + "baseId": "360843|362226|539978|801192", + "text": "Generalized dystonia" + }, + { + "baseId": "360845", + "text": "Hypercalcemia" + }, + { + "baseId": "360845", + "text": "Hypocalciuria" + }, + { + "baseId": "360850|361041|514221", + "text": "Facial asymmetry" + }, + { + "baseId": "360850|361700|362583|513992|536162|619940", + "text": "Hemimegalencephaly" + }, + { + "baseId": "360852|360853", + "text": "Toe syndactyly" + }, + { + "baseId": "360852|360853", + "text": "Finger syndactyly" + }, + { + "baseId": "360854", + "text": "Abnormality of the thyroid gland" + }, + { + "baseId": "360857", + "text": "Anterior creases of earlobe" + }, + { + "baseId": "360857", + "text": "Glabellar hemangioma" + }, + { + "baseId": "360863", + "text": "Elevated systolic blood pressure" + }, + { + "baseId": "360863", + "text": "Elevated diastolic blood pressure" + }, + { + "baseId": "360871", + "text": "Cutaneous finger syndactyly" + }, + { + "baseId": "360871", + "text": "Bilateral microphthalmos" + }, + { + "baseId": "360871", + "text": "Anteverted nares" + }, + { + "baseId": "360874", + "text": "Nail dysplasia" + }, + { + "baseId": "360874|360928", + "text": "Hypertrichosis" + }, + { + "baseId": "360877", + "text": "Preauricular skin tag" + }, + { + "baseId": "360879", + "text": "Opacification of the corneal stroma" + }, + { + "baseId": "360879", + "text": "Bifid nasal tip" + }, + { + "baseId": "360879", + "text": "Upslanted palpebral fissure" + }, + { + "baseId": "360882", + "text": "EMG: myotonic runs" + }, + { + "baseId": "360884|513212", + "text": "Female infertility" + }, + { + "baseId": "360884", + "text": "Abnormality of the ovary" + }, + { + "baseId": "360893|452274|513974|513975", + "text": "Cavernous hemangioma" + }, + { + "baseId": "360896", + "text": "Multiple prenatal fractures" + }, + { + "baseId": "360897", + "text": "Pear-shaped nose" + }, + { + "baseId": "360897", + "text": "Proportionate short stature" + }, + { + "baseId": "360897|514155", + "text": "Alopecia areata" + }, + { + "baseId": "360904|360905|360937|361107", + "text": "Ocular albinism" + }, + { + "baseId": "360906", + "text": "Poor speech" + }, + { + "baseId": "360906|360970|360971|513914|921240", + "text": "Gait disturbance" + }, + { + "baseId": "360908", + "text": "Adenoma sebaceum" + }, + { + "baseId": "360913|360914", + "text": "Trident hand" + }, + { + "baseId": "360916", + "text": "Abnormality of the choroid" + }, + { + "baseId": "360916", + "text": "Visual field defect" + }, + { + "baseId": "360921", + "text": "Aplasia/Hypoplasia of the phalanges of the hand" + }, + { + "baseId": "360921|513889", + "text": "Palpitations" + }, + { + "baseId": "360921", + "text": "Hand oligodactyly" + }, + { + "baseId": "360921", + "text": "Aplasia/Hypoplasia involving the metacarpal bones" + }, + { + "baseId": "360922|514126", + "text": "Arterial tortuosity" + }, + { + "baseId": "360922", + "text": "Aneurysm of descending aorta" + }, + { + "baseId": "360925", + "text": "Conjunctival telangiectasia" + }, + { + "baseId": "360925|514103|971546", + "text": "Oculomotor apraxia" + }, + { + "baseId": "360926|360927", + "text": "Abdominal pain" + }, + { + "baseId": "360926", + "text": "Vomiting" + }, + { + "baseId": "360926", + "text": "Mood changes" + }, + { + "baseId": "360927", + "text": "Elevated urinary delta-aminolevulinic acid" + }, + { + "baseId": "360927|800788|971289", + "text": "Anxiety" + }, + { + "baseId": "360933|360934|360953|361106", + "text": "Hammertoe" + }, + { + "baseId": "360933|360934|463431|514133|610581|610592", + "text": "Progressive muscle weakness" + }, + { + "baseId": "360939", + "text": "Long fingers" + }, + { + "baseId": "360939", + "text": "Astigmatism" + }, + { + "baseId": "360941", + "text": "Aplasia/Hypoplasia of the nails" + }, + { + "baseId": "360944", + "text": "Disproportionate short-limb short stature" + }, + { + "baseId": "360945|514005|966716|966717", + "text": "Short ribs" + }, + { + "baseId": "360945", + "text": "Absent vertebral body mineralization" + }, + { + "baseId": "360952", + "text": "Kayser-Fleischer ring" + }, + { + "baseId": "360952|512868|513906|513959|513983|514053|514111", + "text": "Hand tremor" + }, + { + "baseId": "360970|360971", + "text": "Generalized hyperreflexia" + }, + { + "baseId": "360973|679854", + "text": "Ascending aortic dissection" + }, + { + "baseId": "360977", + "text": "Pectus carinatum" + }, + { + "baseId": "360979|360984|485953", + "text": "Mitral regurgitation" + }, + { + "baseId": "360984", + "text": "Abnormal morphology of the left ventricle" + }, + { + "baseId": "360986", + "text": "Dental enamel pits" + }, + { + "baseId": "360988", + "text": "Renovascular hypertension" + }, + { + "baseId": "360988|360995|514057", + "text": "Hepatic cysts" + }, + { + "baseId": "360991", + "text": "Moderate sensorineural hearing impairment" + }, + { + "baseId": "360991", + "text": "3-4 toe syndactyly" + }, + { + "baseId": "360992", + "text": "Abnormality of the kidney" + }, + { + "baseId": "360995", + "text": "Dilatation of the cerebral artery" + }, + { + "baseId": "360999|361071", + "text": "Thumb deformity (disease)" + }, + { + "baseId": "361003", + "text": "Fetal megacystis" + }, + { + "baseId": "361003", + "text": "Urethral atresia" + }, + { + "baseId": "361005", + "text": "Tongue fasciculations" + }, + { + "baseId": "361010|514081", + "text": "Inguinal freckling" + }, + { + "baseId": "361013", + "text": "Plexiform neurofibroma" + }, + { + "baseId": "361021", + "text": "Peripheral pulmonary artery stenosis" + }, + { + "baseId": "361022|590093", + "text": "Osteopenia" + }, + { + "baseId": "361022|485950", + "text": "Blue sclerae" + }, + { + "baseId": "361022|966164|966165", + "text": "Increased susceptibility to fractures" + }, + { + "baseId": "361024", + "text": "Handgrip myotonia" + }, + { + "baseId": "361025|513969", + "text": "EMG: myotonic discharges" + }, + { + "baseId": "361034", + "text": "Diffuse palmoplantar hyperkeratosis" + }, + { + "baseId": "361035|513911|513913|513956|964259|976826", + "text": "Noncompaction cardiomyopathy" + }, + { + "baseId": "361036", + "text": "Cerebral hypoplasia" + }, + { + "baseId": "361041", + "text": "Single transverse palmar crease" + }, + { + "baseId": "361042", + "text": "Intestinal polyposis" + }, + { + "baseId": "361042", + "text": "Periorbital hyperpigmentation" + }, + { + "baseId": "361043|679897", + "text": "Intention tremor" + }, + { + "baseId": "361047|513943", + "text": "Mildly elevated creatine phosphokinase" + }, + { + "baseId": "361051", + "text": "Proximal amyotrophy" + }, + { + "baseId": "361068", + "text": "Progressive neurodegenerative disease" + }, + { + "baseId": "361070|513926", + "text": "Fatigue" + }, + { + "baseId": "361070", + "text": "Hyperextensible hand joints" + }, + { + "baseId": "361071", + "text": "Facial grimacing" + }, + { + "baseId": "361072|610493|610494|919955|920428|920429|962058", + "text": "Menke-Hennekam syndrome 2" + }, + { + "baseId": "361073|361074|361075|361076", + "text": "Central hypoventilation" + }, + { + "baseId": "361073|361074|361075|361076|535380", + "text": "Progressive microcephaly" + }, + { + "baseId": "361079|589814|682784|682786|682787|920435", + "text": "Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy" + }, + { + "baseId": "361080|920586", + "text": "Pes planus" + }, + { + "baseId": "361080|513931|514154", + "text": "Foot dorsiflexor weakness" + }, + { + "baseId": "361085", + "text": "Decreased glucosephosphate isomerase activity" + }, + { + "baseId": "361090", + "text": "Bowing of the legs" + }, + { + "baseId": "361090", + "text": "Lower limb pain" + }, + { + "baseId": "361090|496345", + "text": "Hypophosphatemic rickets" + }, + { + "baseId": "361092", + "text": "Proptosis" + }, + { + "baseId": "361097", + "text": "Short lingual frenulum" + }, + { + "baseId": "361097", + "text": "Persistent hyperplastic primary vitreous" + }, + { + "baseId": "361106|513931", + "text": "Peroneal muscle atrophy" + }, + { + "baseId": "361107", + "text": "Poor eye contact" + }, + { + "baseId": "361109|361110", + "text": "Focal white matter lesions" + }, + { + "baseId": "361115|361116", + "text": "Leber plus disease" + }, + { + "baseId": "361122", + "text": "KLF7-related disorder" + }, + { + "baseId": "361129", + "text": "Pierre Robin-like syndrome" + }, + { + "baseId": "361137", + "text": "Retinal dysplasia" + }, + { + "baseId": "361139|361147", + "text": "Language retardation" + }, + { + "baseId": "361144|540566|540567|540568|540569|624068|626241|779813|791477|798688|920541|971024", + "text": "Intellectual developmental disorder with or without epilepsy or cerebellar ataxia" + }, + { + "baseId": "361145", + "text": "Moderate intellectual deficiency" + }, + { + "baseId": "361237|497803|512523|514782|535277|535278|538269|538273|590340|623357|679936|789399|793863|861600|903681|903689|974884|983615|983630|983631|983632|983633|983634|983635|983636|983637|983638|983639|983640|983641|983642", + "text": "Waardenburg syndrome type 2E" + }, + { + "baseId": "361323", + "text": "Subependymal giant-cell astrocytoma" + }, + { + "baseId": "361335|434702|445216|791396", + "text": "Phosphoenolpyruvate carboxykinase deficiency, mitochondrial" + }, + { + "baseId": "361445|431519|431520|431521|431522|431523|434077|434078|434079|434080", + "text": "STAG1-related disorder" + }, + { + "baseId": "361695|361696|364179", + "text": "Abnormality of skeletal morphology" + }, + { + "baseId": "361695|361696|906204|917742|917743|917744|919190|919191|925413|971279|971280|971281|975862", + "text": "Congenital heart defects and skeletal malformations syndrome" + }, + { + "baseId": "361709", + "text": "Pemigatinib resistance" + }, + { + "baseId": "361712", + "text": "FGFR2-related syndromic and non-syndromic craniosynostoses" + }, + { + "baseId": "361740", + "text": "Uncombable hair syndrome 3" + }, + { + "baseId": "361741|361742|590224|679754", + "text": "Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to" + }, + { + "baseId": "361743|361744|792605|919222|919223", + "text": "Glaucoma 3, primary congenital, E" + }, + { + "baseId": "361745", + "text": "Uncombable hair syndrome 2" + }, + { + "baseId": "361747|361748|361749|361750|538354|654123|798521|798522", + "text": "Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies" + }, + { + "baseId": "361751|361752|361753|361754|361755|361756|789130|791490", + "text": "Epileptic encephalopathy, early infantile, 48" + }, + { + "baseId": "361757|361758|361759|361760|361761|361762|790797|790798|805088", + "text": "Epilepsy, early-onset, vitamin b6-dependent" + }, + { + "baseId": "361767|361768|361769|361770|361771|362584|362590", + "text": "Amelogenesis imperfecta, type IJ" + }, + { + "baseId": "361772|361773|361774", + "text": "Uncombable hair syndrome" + }, + { + "baseId": "361775|361776|361777|361778|361779|361780|361781|361782|446086|481407|513476|539089|539978|539979|539980|539981|539982|539983|553400|581821|581822|679810|798746|798747|798748|798749|798750|806040|858745|919848|920405|963184|964891|971126|976672", + "text": "Dystonia 28, childhood-onset" + }, + { + "baseId": "361783|361784|361786|361787|361788|442819|513407|798471", + "text": "Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities" + }, + { + "baseId": "361783|361784|361786|361787|361788|442819", + "text": "Childhood Onset Dystonias" + }, + { + "baseId": "361789|361790", + "text": "Tooth agenesis, selective, 9" + }, + { + "baseId": "361813|361814|361815|424350|425212|434581|578407|920112|920113|920156|920157", + "text": "Spastic paraplegia, intellectual disability, nystagmus, and obesity" + }, + { + "baseId": "361820|361821|361822|361823|361824|361825|788888|906263", + "text": "Nephronophthisis 20" + }, + { + "baseId": "361830|361831|361832|361833|362362|362363", + "text": "Epileptic encephalopathy, early infantile, 49" + }, + { + "baseId": "361859", + "text": "Suxamethonium sensitivity" + }, + { + "baseId": "361877", + "text": "Hereditary Mixed Polyposis" + }, + { + "baseId": "361892", + "text": "Optic atrophy 11" + }, + { + "baseId": "361893", + "text": "Mucopolysaccharidosis-plus syndrome" + }, + { + "baseId": "361894|361895|361896|447915|448245|557286|589796|628031|628032|696764|707425|707426|707427|707428|707430|707431|718981|718982|732485|732486|824137|824138|952442", + "text": "Glycine encephalopathy with normal serum glycine" + }, + { + "baseId": "361897|361899|361900|362088", + "text": "Retinitis pigmentosa 77" + }, + { + "baseId": "361924|362581|553378", + "text": "Bile acid synthesis defect, congenital, 6" + }, + { + "baseId": "362080|362081|439477|439583|550788|583211", + "text": "Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis" + }, + { + "baseId": "362082", + "text": "Ichthyosis, congenital, autosomal recessive 12" + }, + { + "baseId": "362085|362086|362087", + "text": "Anterior segment dysgenesis 8" + }, + { + "baseId": "362134", + "text": "Abnormality of the basal ganglia" + }, + { + "baseId": "362134", + "text": "Abnormal muscle tone" + }, + { + "baseId": "362138|362139|389102|414715|446863|446866|513885|626136|790398|903525|918834", + "text": "Neurodevelopmental disorder with severe motor impairment and absent language" + }, + { + "baseId": "362144|362151", + "text": "Obsessive-compulsive behavior" + }, + { + "baseId": "362152", + "text": "Neurogenic bladder" + }, + { + "baseId": "362152", + "text": "Broad-based gait" + }, + { + "baseId": "362154", + "text": "Abnormal biliary tract morphology" + }, + { + "baseId": "362154", + "text": "Asplenia" + }, + { + "baseId": "362154", + "text": "Reduced number of intrahepatic bile ducts" + }, + { + "baseId": "362154", + "text": "Duodenal atresia (disease)" + }, + { + "baseId": "362158|362159|422029|553300|590082|858765|858766", + "text": "Relative macrocephaly" + }, + { + "baseId": "362165", + "text": "Cerebellar vermis atrophy" + }, + { + "baseId": "362179", + "text": "Mental retardation, autosomal recessive 59" + }, + { + "baseId": "362182|683224", + "text": "Multiple mitochondrial dysfunctions syndrome 5" + }, + { + "baseId": "362204", + "text": "Hypertelorism and tetralogy of fallot" + }, + { + "baseId": "362225", + "text": "Cronkhite-Canada syndrome" + }, + { + "baseId": "362226", + "text": "Functional motor deficit" + }, + { + "baseId": "362285", + "text": "Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type" + }, + { + "baseId": "362372|362373|553404|706045|858295|905813", + "text": "Ciliary dyskinesia, primary, 36, X-linked" + }, + { + "baseId": "362374|362375|362376|362377|362377|362378|425883|460061|497142|563876|837143", + "text": "Nemaline myopathy 11, autosomal recessive" + }, + { + "baseId": "362402|362403", + "text": "Cerebroretinal microangiopathy with calcifications and cysts 2" + }, + { + "baseId": "362450", + "text": "Abnormality of lipid metabolism" + }, + { + "baseId": "362479|362480|362481|362482|362483|514308|514309", + "text": "Grange syndrome" + }, + { + "baseId": "362492|362493", + "text": "Aortic aneurysm, familial thoracic 11, susceptibility to" + }, + { + "baseId": "362494", + "text": "nicotine response - Efficacy, Toxicity/ADR" + }, + { + "baseId": "362499", + "text": "ethambutol, isoniazid, pyrazinamide, and rifampin response - Toxicity/ADR" + }, + { + "baseId": "362503", + "text": "rosiglitazone response - Metabolism/PK" + }, + { + "baseId": "362504", + "text": "cocaine response - Toxicity/ADR" + }, + { + "baseId": "362506", + "text": "nicotine response - Toxicity/ADR, Metabolism/PK" + }, + { + "baseId": "362507", + "text": "captopril response - Efficacy" + }, + { + "baseId": "362508", + 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carcinoma" + }, + { + "baseId": "362775", + "text": "Histone Methylation Therapy response" + }, + { + "baseId": "362834|362836|362880|362881|363190|451841|622029|622030", + "text": "Uveal melanoma" + }, + { + "baseId": "362901|615336|615547|615747", + "text": "Abnormal platelet function" + }, + { + "baseId": "362909", + "text": "Leukemia, acute, ?X-linked" + }, + { + "baseId": "362943|363140|363142|983779|983780|983781|983782|983783|983784", + "text": "Vascular Malformations and Overgrowth" + }, + { + "baseId": "362955|363107", + "text": "Esophageal Squamous Cell Carcinoma" + }, + { + "baseId": "362992|362993|362995", + "text": "Leukemoid Reaction" + }, + { + "baseId": "363027|583093", + "text": "Mast cell disease, systemic" + }, + { + "baseId": "363110|363114", + "text": "Neoplasm of the parathyroid gland" + }, + { + "baseId": "363227", + "text": "Granulosa Cell Tumor" + }, + { + "baseId": "363228|363229|363230", + "text": "Leukemia-Lymphoma, Adult T-Cell" + }, + { + "baseId": 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"text": "Deafness, autosomal dominant 73" + }, + { + "baseId": "408795", + "text": "COL4A1-Related Disorder" + }, + { + "baseId": "409073", + "text": "CHD8-Related Disorders" + }, + { + "baseId": "409352|792608", + "text": "CHRNA3-related condition" + }, + { + "baseId": "409578|409583|653803|653804", + "text": "Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome" + }, + { + "baseId": "409660|966898|966899|966901|966902|970508|983848", + "text": "Vissers-Bodmer syndrome" + }, + { + "baseId": "409773", + "text": "DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA" + }, + { + "baseId": "410148", + "text": "Ovarian Cancers" + }, + { + "baseId": "410288|961340", + "text": "CHD3-Related Disorder" + }, + { + "baseId": "410288|512330|540496|540497|540498|540499|540500|540501|540502|540503|540504|540505|540506|540507|540508|540509|540510|540511|540512|540513|540515|920382|964881|971094|971095", + "text": "Snijders blok-campeau syndrome" + }, + { + "baseId": "410530", + "text": "Bulbar palsy" + }, + { + "baseId": "410530", + "text": "Recurrent respiratory infections" + }, + { + "baseId": "410891", + "text": "COL6A1-related Disorder" + }, + { + "baseId": "410924", + "text": "Cataract 17" + }, + { + "baseId": "410985", + "text": "MORC2-related developmental disorder" + }, + { + "baseId": "410985|792534|792585|980603", + "text": "DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY" + }, + { + "baseId": "410999|411005", + "text": "DEPDC5-Related Disorder" + }, + { + "baseId": "411308", + "text": "IL1RAPL1-Related Disorder" + }, + { + "baseId": "411339", + "text": "USP9X related disorders" + }, + { + "baseId": "411435|822344|822346|822348|822349|822350|966173", + "text": "Wieacker-Wolff syndrome, female-restricted" + }, + { + "baseId": "411489", + "text": "ATRX-Related Disorder" + }, + { + "baseId": "411536|613898|613899|615852|615873", + "text": "11q partial monosomy syndrome" + }, + { + "baseId": "413180|970994", + "text": "Townes-Brocks syndrome 2" + }, + { + "baseId": "413182|609021|798919|800619|800620", + "text": "Syndromic retinitis pigmentosa" + }, + { + "baseId": "413199|413200|413201|413202|413203|413204|540467|540468|788926|963182|963183", + "text": "Arthrogryposis multiplex congenita, neurogenic, with myelin defect" + }, + { + "baseId": "413209|413210|413211|413212|413213|438051|536505|550630|611863|613832|626462|964487|970509", + "text": "Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold" + }, + { + "baseId": "413236|413585|413712|437893|438312|486402|612755|612912|790627|794743|798146|801311|801312|801320|801322|801324|801326|801364", + "text": "Isolated macular dystrophy" + }, + { + "baseId": "413297|578329", + "text": "Joubert syndrome 35" + }, + { + "baseId": "413483|481074|576060|576061|965884|970510", + "text": "Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies" + }, + { + "baseId": "413491|609026|610497", + "text": "Combined oxidative phosphorylation deficiency 37" + }, + { + "baseId": "414000|539139", + "text": "Dentinogenesis imperfecta" + }, + { + "baseId": "414475|414476|414477|414478", + "text": "Retinitis pigmentosa with or without skeletal anomalies" + }, + { + "baseId": "414516|414517|677316|677317|702910|963168", + "text": "Structural heart defects and renal anomalies syndrome" + }, + { + "baseId": "414648|414649|414650|980155|980910", + "text": "Cardiac valvular defect, developmental" + }, + { + "baseId": "414711|414712|414713|414714|622260|622261", + "text": "Ichthyosis, congenital, autosomal recessive 14" + }, + { + "baseId": "415113", + "text": "Chronic granulomatous disease due to deficiency of NCF-1" + }, + { + "baseId": "415242|444691|513599|564063|564950|639325|665615|925986|935257|935258|947157|947158|947159|947160|956289|956290", + "text": "de Barsy syndrome" + }, + { + "baseId": "415499", + "text": "SLC6A2-related disorder" + }, + { + "baseId": "415601", + "text": "Decreased activity of mitochondrial complex I" + }, + { + "baseId": "415601", + "text": "Gastrostomy tube feeding in infancy" + }, + { + "baseId": "416845|513080", + "text": "Pancreatic lipase deficiency" + }, + { + "baseId": "416932", + "text": "Beta-aminoisobutyric aciduria" + }, + { + "baseId": "417078", + "text": "Distal trisomy 1p36" + }, + { + "baseId": "417247|964423|980953", + "text": "Craniosynostosis 7" + }, + { + "baseId": "417544|417545", + "text": "Immunodeficiency 52" + }, + { + "baseId": "417641|417642|417643|417644|417645", + "text": "Acute myeloid leukemia with maturation" + }, + { + "baseId": "417660|417661|417662|798544", + "text": "Fibromatosis, gingival, 5" + }, + { + "baseId": "417868|417869|417870|417871|626376|791821|798723|961337", + "text": "Stankiewicz-Isidor syndrome" + }, + { + "baseId": "418319|418320|418321|418322", + "text": "Erythrokeratodermia variabilis et progressiva 4" + }, + { + "baseId": "418437|788727", + "text": "Neurodevelopmental disorder with midbrain and hindbrain malformations" + }, + { + "baseId": "418797", + "text": "Cardio-cutaneous syndrome" + }, + { + "baseId": "418798", + "text": "Hypokinetic non-dilated cardiomyopathy" + }, + { + "baseId": "419004|419005|419006|419007|419008|419009|419010|419011|419012|419013|538963", + "text": "ARMC9-related Joubert syndrome" + }, + { + "baseId": "419005|419006|419007|419008|419009|419010|419011|419012|419013|513217|624048|624090", + "text": "Joubert syndrome 30" + }, + { + "baseId": "419289", + "text": "Sinus bradycardia" + }, + { + "baseId": "419298|425264|425265|425266|425267", + "text": "Protein-losing enteropathy (disease)" + }, + { + "baseId": "420007|420008|420009|420012|420013|420014|420015|420016", + "text": "Axial spondylometaphyseal dysplasia" + }, + { + "baseId": "420147", + "text": "Leukodystrophy, hypomyelinating, 17" + }, + { + "baseId": "420284|420285", + "text": "Intellectual developmental disorder with neuropsychiatric features" + }, + { + "baseId": "420424|420425|420426|495307|514534|623090|623091|623092|623093|623094|623095|789741|789742|859501|964270|980607|980608|980609|980610|980611", + "text": "Rahman syndrome" + }, + { + "baseId": "420976|798517|971282", + "text": "Mitochondrial complex 1 deficiency, nuclear type 31" + }, + { + "baseId": "421143", + "text": "Hemolytic disease of fetus OR newborn due to isoimmunization" + }, + { + "baseId": "421201", + "text": "PINK1-Related Parkinsonism" + }, + { + "baseId": "421463|977332", + "text": "IMMUNODEFICIENCY 75" + }, + { + "baseId": "421583|421584|428609|915027", + "text": "Sialidosis" + }, + { + "baseId": "421732", + "text": "Shone complex" + }, + { + "baseId": "421904", + "text": "MED13L-Related Disorder" + }, + { + "baseId": "422029", + "text": "Wide nasal bridge" + }, + { + "baseId": "422029", + "text": "Wide mouth" + }, + { + "baseId": "422068", + "text": "IGF1R-Related Disorder" + }, + { + "baseId": "422479|434694", + "text": "DDX3X-Related Disorder" + }, + { + "baseId": "422802|424255", + "text": "Familial hematuria" + }, + { + "baseId": "423091|423234|432254|432256", + "text": "Combined oxidative phosphorylation deficiency 32" + }, + { + "baseId": "423403|423404|423405|806438|919990|965239", + "text": "MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35" + }, + { + "baseId": "423700|423701|423702|423703|423704|801579|919504|964858", + "text": "Gabriele de Vries syndrome" + }, + { + "baseId": "423705|423706|495432|615970|615971|615972|615973|615974|626452", + "text": "Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy" + }, + { + "baseId": "424016|424017", + "text": "Meier-Gorlin syndrome 8" + }, + { + "baseId": "424018", + "text": "Perrault syndrome 6" + }, + { + "baseId": "424176|424177|424178|424179|462340|526505|571044|575495|640489|777938|778180|784235|784236|784237|791183|839142|919398|956710|967274", + "text": "Cohen-Gibson syndrome" + }, + { + "baseId": "424180|581883|800967|800968|800969|964879|969135", + "text": "Imagawa-Matsumoto syndrome" + }, + { + "baseId": "424219", + "text": "Spinocerebellar ataxia 37" + }, + { + "baseId": "424232|424235", + "text": "Meckel syndrome 13" + }, + { + "baseId": "424250|424251|481459|511001|798659", + "text": "Ichthyosis, congenital, autosomal recessive 13" + }, + { + "baseId": "424262|794103|794105|794106|794107|794108|800763|961649|964272|970495", + "text": "Poirier-Bienvenu neurodevelopmental syndrome" + }, + { + "baseId": "424349|622944", + "text": "Intellectual developmental disorder with severe speech and ambulation defects" + }, + { + "baseId": "424349|622944", + "text": "ACTL6B-related dominant intellectual disability" + }, + { + "baseId": "424352|535688|535690|790531|798556|815981|816016|962039|962040|962041|962042|962043|962044|962045", + "text": "Developmental and epileptic encephalopathy, 65" + }, + { + "baseId": "424366|424367", + "text": "Progressive childhood encephalopathy" + }, + { 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"baseId": "424475", + "text": "Spinocerebellar ataxia, autosomal recessive 25" + }, + { + "baseId": "424476|424477|424478|424479|424480|513770|513771|513772|513773|513774|513775", + "text": "Spermatogenic failure 19" + }, + { + "baseId": "424481|513776|513777|513778|513779|513780", + "text": "Spermatogenic failure 20" + }, + { + "baseId": "424569", + "text": "Caused by mutation in the tafazzin gene" + }, + { + "baseId": "424570|424571|424572|424573|798682", + "text": "Maleylacetoacetate isomerase deficiency" + }, + { + "baseId": "424574|424575", + "text": "Mosaic variegated aneuploidy syndrome 3" + }, + { + "baseId": "424578", + "text": "Birk-Landau-Perez syndrome" + }, + { + "baseId": "424588|424589|424590|424591|424592|424593|424594|424595|424596|424597|514213|519403|553302|861283|980693", + "text": "Postnatal microcephaly" + }, + { + "baseId": "424641", + "text": "Autism Spectrum Disorder with Intellectual Disability" + }, + { + "baseId": "424655|576113", + "text": "Non-syndromic 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"text": "Deafness, autosomal dominant 72" + }, + { + "baseId": "424951|959511", + "text": "Deafness, autosomal dominant 71" + }, + { + "baseId": "424952|424953|424954|424955", + "text": "Polycystic kidney disease 5" + }, + { + "baseId": "424972|857683|858272", + "text": "Deafness, autosomal recessive 110" + }, + { + "baseId": "424991|581220|581221|581222|581223|977261", + "text": "SYT1-associated neurodevelopmental disorder" + }, + { + "baseId": "424991|581220|581221|581222|581223|816476", + "text": "Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome" + }, + { + "baseId": "425202", + "text": "Thin skin" + }, + { + "baseId": "425202", + "text": "Hyperlaxity" + }, + { + "baseId": "425203|818745", + "text": "facial dysmorphism" + }, + { + "baseId": "425259|425260|425261|614315|614316", + "text": "Nephrotic syndrome type 15" + }, + { + "baseId": "425263", + "text": "CROMER BLOOD GROUP SYSTEM, Dr(a-) PHENOTYPE" + }, + { + "baseId": 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"MEF2C-Related Disorder" + }, + { + "baseId": "425770|626366", + "text": "Predisposition to dissection" + }, + { + "baseId": "425924|550207|550208|919363|970655", + "text": "Osteogenesis imperfecta, type xvi" + }, + { + "baseId": "426479", + "text": "HSD17B10-Related Disorder" + }, + { + "baseId": "426508|426509|426510|426511|426512|426513|439624|439625|677300|789935|789936|815976|918612|920137|970677|971237", + "text": "Skraban-Deardorff syndrome" + }, + { + "baseId": "426722", + "text": "Feingold syndrome 2" + }, + { + "baseId": "426758|426759", + "text": "Schizophrenia 19" + }, + { + "baseId": "427102|622035|905842|917751", + "text": "Autosomal dominant non-syndromic sensorineural deafness type DFNA" + }, + { + "baseId": "427102", + "text": "Deafness, autosomal dominant 74" + }, + { + "baseId": "427103|427104|504286", + "text": "Deafness, autosomal recessive 106" + }, + { + "baseId": "427105|427106|539092", + "text": "Spinocerebellar ataxia, autosomal recessive 26" + }, + { + "baseId": "427834", + "text": "Epilepsy due to perinatal stroke" + }, + { + "baseId": "429028|429029", + "text": "Pseudohermaphroditism male with gynecomastia" + }, + { + "baseId": "429533", + "text": "DYNC1H1-related disorders" + }, + { + "baseId": "429594|590038|677229|800788|801072", + "text": "Hypothyroidism" + }, + { + "baseId": "429767|643927|818781|818782|818783|818784|818785|818786|822289|822290|822291|822292", + "text": "Familial Interstitial Pneumonia" + }, + { + "baseId": "429767|643927|818781|818782|818783|818784|818785|818786|822289|822290|822291|822292", + "text": "Pulmonary fibrosis" + }, + { + "baseId": "430955", + "text": "46,XX sex reversal, type 1" + }, + { + "baseId": "431406|431407|431408", + "text": "Deafness, autosomal recessive 107" + }, + { + "baseId": "431409|625969|625972|965219", + "text": "Polydactyly, postaxial, type a7" + }, + { + "baseId": "431425|431426|431427|481435|513700|513701|513702|513703|550577|589824|654112|798458|818157|818158|858866|963117|980300", + "text": "Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay" + }, + { + "baseId": "431489|904914", + "text": "Spondyloepimetaphyseal dysplasia, di rocco type" + }, + { + "baseId": "431493|492638|614352|679181|969248", + "text": "Cerebellar atrophy, developmental delay, and seizures" + }, + { + "baseId": "431494", + "text": "Spermatogenic failure 21" + }, + { + "baseId": "431495|431496|553288|590786|906273", + "text": "Hydranencephaly with renal aplasia-dysplasia" + }, + { + "baseId": "431510", + "text": "Deafness, autosomal recessive 108" + }, + { + "baseId": "431518|431519|431520|431521|431522|431523|434077|513812|513813|513814|513845|513846|513847|550353|621148|790338|970756|983302", + "text": "Intellectual disability, autosomal dominant 47" + }, + { + "baseId": "431537", + "text": "UBTF E210K Neuroregression Syndrome" + }, + { + "baseId": "431537|919730|971079", + "text": "Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder" + }, + { + "baseId": "431537", + "text": "Infantile or childhood onset neurodegenerative disease, global developmental delay, and intellectual disability" + }, + { + "baseId": "431537", + "text": "UBTF-Related Disorder" + }, + { + "baseId": "431537", + "text": "Rare syndromic intellectual disability" + }, + { + "baseId": "431554", + "text": "Empty follicle syndrome" + }, + { + "baseId": "431554|676995|683219", + "text": "Oocyte maturation defect 3" + }, + { + "baseId": "431877|682738", + "text": "Hypomagnesemia" + }, + { + "baseId": "431889", + "text": "Hypoplastic right heart syndrome" + }, + { + "baseId": "431921", + "text": "Tubulinopathy" + }, + { + "baseId": "431934", + "text": "Learning difficulty" + }, + { + "baseId": "431979|431980", + "text": "Joint laxity, short stature, and myopia" + }, + { + "baseId": "431981|431982|613764|613765|613766", + "text": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3" + }, + { + "baseId": "432221|432222", + "text": "Cortical gyral simplification" + }, + { + "baseId": "432248", + "text": "Inclusion body myositis" + }, + { + "baseId": "432257|432258|432259|963165", + "text": "Helix syndrome" + }, + { + "baseId": "432263|536175|536176|536177|536178|919379", + "text": "Coffin-Siris syndrome 7" + }, + { + "baseId": "432287", + "text": "Microalbuminuria" + }, + { + "baseId": "432287", + "text": "Macroscopic hematuria" + }, + { + "baseId": "432334|590099", + "text": "Kyphosis" + }, + { + "baseId": "432368|432369|610999|611000|611003", + "text": "Galloway-Mowat syndrome 6" + }, + { + "baseId": "432405", + "text": "SMALL ROUND CELL TUMOR" + }, + { + "baseId": "432414", + "text": "YOLK SAC TUMOR AND HIGH-GRADE IMMATURE TERATOMA" + }, + { + "baseId": "432421", + "text": "Desmoplastic small round cell tumor" + }, + { + "baseId": "432435|432436|432437|539972|539973|790752|798591", + "text": "Developmental and epileptic encephalopathy, 56" + }, + { + "baseId": "432446|432447|432448|788851|919368", + "text": "Blepharocheilodontic syndrome 2" + }, + { + "baseId": "432464|432465|432466|432467|432468|495073|513405|581219|672003|818380|965267|965268|965269|975902|975903", + "text": "Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome" + }, + { + "baseId": "432485|432486|432487|440927", + "text": "Spinocerebellar ataxia 44" + }, + { + "baseId": "432670", + "text": "HEMOGLOBIN TAK" + }, + { + "baseId": "433599|609692|682779|682780|682781|700562|799533|799535|799536|981620|981621|981622|981623", + "text": "Hemolytic anemia due to glutathione reductase deficiency" + }, + { + "baseId": "434381|434382|434383|434384|802215", + "text": "Al Kaissi syndrome" + }, + { + "baseId": "434385|623122", + "text": "Spermatogenic failure 23" + }, + { + "baseId": "434386", + "text": "Spermatogenic failure 22" + }, + { + "baseId": "434421|434422|481490|481491|800133|903634", + "text": "3-methylglutaconic aciduria type 9" + }, + { + "baseId": "434424", + "text": "Methylmalonic aciduria of the cblA complementation type" + }, + { + "baseId": "434499|434500", + "text": "Hypertryptophanemia, familial" + }, + { + "baseId": "434518|578431|672236|672237|681867|805080", + "text": "Diencephalic-mesencephalic junction dysplasia syndrome 1" + }, + { + "baseId": "434541", + "text": "Familial early-onset deep venous thrombosis" + }, + { + "baseId": "434542|434543|434544|434545|434546|434547|434548|583074|798453|964795|964796|974507", + "text": "Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures" + }, + { + "baseId": "434549|626090", + "text": "Neurodevelopmental disorder with microcephaly, ataxia, and seizures" + }, + { + "baseId": "434570|672135", + "text": "Chromosome 2q23.1 deletion syndrome" + }, + { + "baseId": "434572", + "text": "SCN3A- Related Disorder" + }, + { + "baseId": "434576", + "text": "STAT1-Related Disorder" + }, + { + "baseId": "434585", + "text": "SCN10A-Related Disorder" + }, + { + "baseId": "434586", + "text": "FLNB-Related Disorder" + }, + { + "baseId": "434592|789738|918157|918158|918159|918161|964818", + "text": "Neurodevelopmental disorder with language impairment and behavioral abnormalities" + }, + { + "baseId": "434597", + "text": "MATR3-Related Disorder" + }, + { + "baseId": "434599|538375", + "text": "Spinocerebellar ataxia, autosomal recessive 28" + }, + { + "baseId": "434634|622048|622049|622050", + "text": "Neurooculocardiogenitourinary syndrome" + }, + { + "baseId": "434644|583122", + "text": "LTBP2-related Disorder" + }, + { + "baseId": "434665", + "text": "MYOM1-related disorder" + }, + { + "baseId": "434670", + "text": "DNMT1-Related Disorder" + }, + { + "baseId": "434674", + "text": "Cutis Laxa Syndrome" + }, + { + "baseId": "434676", + "text": "Periodic fever syndrome" + }, + { + "baseId": "434685", + "text": "ACO2-related disorder" + }, + { + "baseId": "434686", + "text": "ACO2-related disorders" + }, + { + "baseId": "434693", + "text": "SMS-Related Disorder" + }, + { + "baseId": "434697", + "text": "mtDNA-related disorders" + }, + { + "baseId": "434698|434699|434700", + "text": "Mitochondrial DNA-related disorder" + }, + { + "baseId": "434734", + "text": "TANGO2-Related disorder" + }, + { + "baseId": "434747", + "text": "X-linked intellectual disability syndrome" + }, + { + "baseId": "434791", + "text": "Arteriosclerosis" + }, + { + "baseId": "434791|622024|622025|622026|622027|672087", + "text": "Coronary artery disease" + }, + { + "baseId": "434864", + "text": "Chromosome 10q22.3-q23.2 deletion syndrome" + }, + { + "baseId": "434869|434870|434871|434872|677458|677459|791826", + "text": "Auditory neuropathy-optic atrophy syndrome" + }, + { + "baseId": "434873|434874|434875|434876|434877|434878", + "text": "Combined oxidative phosphorylation deficiency 33" + }, + { + "baseId": "434897", + "text": "46,XX gonadal dysgenesis" + }, + { + "baseId": "434897|488076", + "text": "Ovarian dysgenesis 7" + }, + { + "baseId": "434925|434926|434927|434928|434929|488121|513416|590463|790427|800681|918867", + "text": "Epileptic encephalopathy, infantile or early childhood 1" + }, + { + "baseId": "434934|921225|963440", + "text": "Neuronopathy, distal hereditary motor, type 9" + }, + { + "baseId": "437661|801263|801264|801265|801266", + "text": "Neoplasm of head and neck" + }, + { + "baseId": "437687|437688|437689|437690|437691|437692|437693|437694|539976|539977", + "text": "Oocyte maturation defect 4" + }, + { + "baseId": "437698", + "text": "Deafness, X-linked" + }, + { + "baseId": "438508", + "text": "Familial isolated restrictive cardiomyopathy" + }, + { + "baseId": "438512|438513|438514", + "text": "Galloway-Mowat syndrome 2, X-linked" + }, + { + "baseId": "438518|438519|790768|815920|963060|963061|963062|963063|963064|963066|964666", + "text": "Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease" + }, + { + "baseId": "438522|438523|438524|438525", + "text": "Galloway-Mowat syndrome 4" + }, + { + "baseId": "438526|438527", + "text": "Galloway-Mowat syndrome 5" + }, + { + "baseId": "438528|438529|438530|438531|438532|438533|438534|438535|590309|962736|962737", + "text": "Galloway-Mowat syndrome 3" + }, + { + "baseId": "438536", + "text": "Facial palsy, congenital, with ptosis and velopharyngeal dysfunction" + }, + { + "baseId": "438551|677465", + "text": "Uruguay faciocardiomusculoskeletal syndrome" + }, + { + "baseId": "438552|438553|438554|438555|438556|438557|614091|678066|963150", + "text": "Intellectual disability, autosomal dominant 48" + }, + { + "baseId": "439194|961520", + "text": "POLR3A-related neurological disorders" + }, + { + "baseId": "439220", + "text": "SPECC1L-related syndrome" + }, + { + "baseId": "439459", + "text": "Erythrokeratodermia variabilis et progressiva 5" + }, + { + "baseId": "439483|439484|439485|439486|439487|439488|481645|611381|611382|790205|790206|790207|790208|800918|805296|861563|861565|918748|918749|918750|918751|964196|964197|972712", + "text": "Clark-Baraitser syndrome" + }, + { + "baseId": "439491|439492|439493|439494|439495", + "text": "Joubert syndrome 31" + }, + { + "baseId": "439497|624047", + "text": "Hyperuricemic nephropathy, familial juvenile, 3" + }, + { + "baseId": "439505|439506|439507", + "text": "Myopathy, centronuclear, 6, with fiber-type disproportion" + }, + { + "baseId": "439523", + "text": "Mitochondrial DNA depletion syndrome 19" + }, + { + "baseId": "439562|439563", + "text": "Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome" + }, + { + "baseId": "439564|539041|917096|976524|976592", + "text": "Alkaline ceramidase 3 deficiency" + }, + { + "baseId": "439567|439584|439585", + "text": "Spliceosomepathy" + }, + { + "baseId": "439568|439569|439570|439571|439572|962920|964353", + "text": "Neurodevelopmental disorder with or without seizures and gait abnormalities" + }, + { + "baseId": "439573|488084", + "text": "Neurodevelopmental disorder with poor language and loss of hand skills" + }, + { + "baseId": "439580|696579|707219|799200|799201|981313", + "text": "Immunodeficiency, common variable, 14" + }, + { + "baseId": "439618|963568|963569|964235|964236|965963|970493", + "text": "Microcephaly 18, primary, autosomal dominant" + }, + { + "baseId": "439621|439622|439623|614176|800532", + "text": "North Carolina macular dystrophy" + }, + { + "baseId": "439633|439634|439635|496932|513979", + "text": "Iris coloboma" + }, + { + "baseId": "439648|439649|439650", + "text": "JOUBERT SYNDROME 34" + }, + { + "baseId": "439651", + "text": "Microphthalmia and cataract" + }, + { + "baseId": "439655|439656|962156|970800", + "text": "Spinocerebellar ataxia 45" + }, + { + "baseId": "439690|439691|624060|624061", + "text": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5" + }, + { + "baseId": "439695|439696|439697|439698|439699", + "text": "CALFAN syndrome" + }, + { + "baseId": "439695|439697|439698|439699|539035|679782|788852|963161", + "text": "Spinocerebellar ataxia, autosomal recessive 21" + }, + { + "baseId": "439700|621042|800836|800838", + "text": "Hereditary hearing loss and deafness" + }, + { + "baseId": "439702", + "text": "CUP (carcinoma unknown primary) syndrome" + }, + { + "baseId": "439840|439841|919230", + "text": "Intellectual disability, autosomal recessive 61" + }, + { + "baseId": "439842|439843", + "text": "Nephrotic syndrome type 16" + }, + { + "baseId": "439867|439868|962180", + "text": "Fanconi anemia, complementation group W" + }, + { + "baseId": "439929", + "text": "Spinal neurofibromas" + }, + { + "baseId": "440029|440030|440031|440032|440033|440034|440035|535229|550346|613826|622302|626094|788726|789855|961496", + "text": "Intellectual disability, autosomal dominant 52" + }, + { + "baseId": "440039|440040|440041|550364|551680|551681|614526|614527|654136|791164|964368|973029", + "text": "Intellectual disability, autosomal dominant 51" + }, + { + "baseId": "440044|440045", + "text": "Inner ear Malformation" + }, + { + "baseId": "440064|496108", + "text": "Short-rib thoracic dysplasia 7/20 with polydactyly, digenic" + }, + { + "baseId": "440088|620162|620163", + "text": "WDR19-Related Disorders" + }, + { + "baseId": "440166|440168|440180|440181|440209", + "text": "Short-rib polydactyly syndrome type I" + }, + { + "baseId": "440239", + "text": "Microcephaly 19, primary, autosomal recessive" + }, + { + "baseId": "440258|440335|919800", + "text": "Gaze palsy, familial horizontal, with progressive scoliosis, 2" + }, + { + "baseId": "440258|440335|440336", + "text": "Developmental Split Brain Syndrome" + }, + { + "baseId": "440400", + "text": "Congenital hypomyelinating neuropathy" + }, + { + "baseId": "440416|871655|965244|965245|965246|965247|965248|965249|965250|965251|965252|965253|965254|965255|970043|970044|970045|970046|970047|970048|970049|970050|970051|970052|970053|970054|970055", + "text": "Corticosteroid response" + }, + { + "baseId": "440711|464828|481389|514128|581923|581924|643075|652723|804981|804982|804983|804997|804998|805002|805003|805006|805010|805012|805013|805014|805015|805019|805025|805026|805028|805029|805030|805032|805035|805036|805037|805038|805039|805040|805041|805045|805048|805051|805057|805060|966293|966304", + "text": "Flexion contracture" + }, + { + "baseId": "440711", + "text": "Tip-toe gait" + }, + { + "baseId": "442470|619886|619887|619888|619889", + "text": "Reclassified - variant of unknown significance" + }, + { + "baseId": "442499|442500|442501|539036", + "text": "Geleophysic dysplasia 3" + }, + { + "baseId": "443137", + "text": "SATB2-Related Disorder" + }, + { + "baseId": "443181|620066|620067", + "text": "COL4A3-Related Disorders" + }, + { + "baseId": "443312|672043", + "text": "DCTN1-Related Disorder" + }, + { + "baseId": "443381|443382", + "text": "TBL1XR1-Related Disorder" + }, + { + "baseId": "443720|511578|622954|622956|622958|622959|622960|918931|918932", + "text": "Brain abnormalities, neurodegeneration, and dysosteosclerosis" + }, + { + "baseId": "444422", + "text": "Combined pituitary hormone deficiency type 3" + }, + { + "baseId": "444512", + "text": "KANK1- Related Disorder" + }, + { + "baseId": "444973", + "text": "CACNA1C-Related Disorder" + }, + { + "baseId": "445005", + "text": "COL2A1-Related Disorder" + }, + { + "baseId": "445123|590074|590075", + "text": "Neonatal respiratory distress" + }, + { + "baseId": "445590|624091", + "text": "PIGQ-related condition" + }, + { + "baseId": "445607|576321", + "text": "Microcephalic osteodysplastic dysplasia, Saul-Wilson type" + }, + { + "baseId": "446047|861654|938582", + "text": "CACNA1A-related disorders" + }, + { + "baseId": "446049", + "text": "CACNA1A-associated disorders" + }, + { + "baseId": "446050|626377", + "text": "CACNA1A-related condition" + }, + { + "baseId": "446193", + "text": "Mitochondrial complex 1 deficiency, nuclear type 14" + }, + { + "baseId": "446266|961036", + "text": "Myoclonic absences" + }, + { + "baseId": "446266|514105|533574", + "text": "developmental encephalopathy with epilepsy" + }, + { + "baseId": "446378|513479|513480|514780|540517|540518|540519|540520|540521|540522|590158|590159|590161|590162|622740|623590|679832|962128|966805", + "text": "Noonan syndrome 2" + }, + { + "baseId": "446643", + "text": "Protein avoidance" + }, + { + "baseId": "446643", + "text": "Abnormality of ornithine metabolism" + }, + { + "baseId": "446829|446830|446831|446832|446833|446834|446835|609308|790786|790787", + "text": "Glycosylphosphatidylinositol biosynthesis defect 15" + }, + { + "baseId": "446836|446837", + "text": "Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter" + }, + { + "baseId": "446867|446868|446869|446870|446871|446872|446873|446874|446875|446876|446877|446878|446879|679804|906037|906220|906221|906222|906223|906224|906225|906226|906227|906228|906229|906229|962799|970548|977288", + "text": "Renal hypodysplasia/aplasia 3" + }, + { + "baseId": "446892", + "text": "Severe neonatal hypotonia improving with age" + }, + { + "baseId": "446893", + "text": "Decreased activity of mitochondrial ATP synthase complex" + }, + { + "baseId": "446893|482269", + "text": "Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5" + }, + { + "baseId": "446900", + "text": "Senior-Loken syndrome 3" + }, + { + "baseId": "447064|447144|514982|514986|515020|515026|515027|515047|515052|556556|556558|556589|556591|556851|556984|556986|626651|626652|626653|626654|626655|626656|706589|822564|822565|822566|822567|822568|822569|822570|822571|822572|822573|822574|921591|921592|921593|921594|921595|921596|921597|929978|929979|929980|929981|929982|941394|941395|952024|952025", + "text": "Autosomal recessive dyskeratosis congenita" + }, + { + "baseId": "447234", + "text": "LMNA-Related Disorders" + }, + { + "baseId": "449094", + "text": "Meckel-Gruber-like syndrome" + }, + { + "baseId": "450277|450434|517798|629320|686122|691015|691016|922527", + "text": "Nuclear pulverulent cataract" + }, + { + "baseId": "453161|453431|453534|519941|520189|562015|632204|651173|720980|734637|829151|923514|932338", + "text": "T-cell immunodeficiency with epidermodysplasia verruciformis" + }, + { + "baseId": "454349|454859|454860|521018|521023|560061|562675|749203", + "text": "Decreased plasma carnitine" + }, + { + "baseId": "454863|454865|454875|455362|455367|455379|455384|455648|624878|633695|691812|698999|721361", + "text": "Childhood absence epilepsy" + }, + { + "baseId": "454955|474385|954162", + "text": "SDHA-Related Disorders" + }, + { + "baseId": "457782|549937|549942|636168|636169|700086|711001|711002|711003|711004|722538|736146|736150|736153|759581|933892|933893", + "text": "Oxoglutaricaciduria" + }, + { + "baseId": "458792|513985|514023", + "text": "Spontaneous, recurrent epistaxis" + }, + { + "baseId": "459866|612002", + "text": "Germinoma (disease)" + }, + { + "baseId": "461658|461663|526519|564906|566162|640435|640436|640437|713119|713120|724689|752935|838973|926380|935770|947651|947652", + "text": "Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations" + }, + { + "baseId": "461713|526770|570721|640161|712902|712903|712905|738045|777955|838567|838568|838569|926278|926279|935601|935602|956534", + "text": "Transcobalamin I deficiency" + }, + { + "baseId": "462563|462568|463332|463334|463444|463447|463449|463450|527450|527453|527472|527473|527477|527725|527726|527730|527732|527990|527997|528001|565832|565839|565844|565850|567143|567158|568248|572177|572182|572184|572189|641520|641521|641522|641523|641524|641525|641526|641527|641528|641529|641530|641531|641532|641533|641534|641535|641536|641537|652384|652801|713808|713809|725337|738919|744758|753681|769387|784514|820539|840493|840494|840495|840496|840497|840498|840499|840500|840501|840502|840503|840504|840505|840506|840507|840508|840509|840510|840511|840512|840513|926791|926792|926793|926794|926795|936325|936326|936327|936328|936329|948246|948247|948248|948249|948250|957014|960070", + "text": "Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency" + }, + { + "baseId": "464097|527988|527994|528040|642198|642201|714069|725621|739170|739171|769732|784680|841192|841193|841194|841195|841196|841197|841198|841199|926986|936553|936554|948482|948483|957178", + "text": "Specific granule deficiency" + }, + { + "baseId": "464622|961534", + "text": "KIF7-related ciliopathy spectrum disorder" + }, + { + "baseId": "466937|622851", + "text": "Absent inner and outer dynein arms" + }, + { + "baseId": "467572|467582|467583|467590|467596|467598|467600|467604|468420|468427|468433|468436|468890|468894|468903|468908|468919|468920|468922|468924|469176|469193|531854|531862|531863|531872|531873|531875|531877|531886|531888|531889|531899|531905|531912|531958|531959|531966|531975|531980|531987|532233|532240|532243|532248|532256|532259|532261|569803|569818|569827|571676|571677|571681|572348|572353|574642|574646|574649|574650|574652|574653|614446|646799|646805|646807|646809|646813|646815|646817|646818|646819|646820|646824|646829|715742|715743|715744|715745|715746|715747|727469|727470|727471|741070|741071|741072|741073|741075|741076|741077|741081|741082|741083|745084|756172|756174|756175|756177|756178|756179|756181|771868|771869|771876|771877|771878|776424|776542|780140|785767|785774|788190|846307|846308|846309|846310|846311|846312|846313|846314|846315|846316|846317|846318|846319|846320|846321|846322|846323|846324|846325|846326|846327|846328|846329|846330|846331|846332|846333|846334|846335|846336|846337|846338|846339|846340|846341|846342|846343|846344|846345|846346|846347|851757|852800|928562|928563|928564|928565|928566|928567|928568|928569|928570|928571|928572|928573|928574|928575|928576|928577|938246|938247|938248|938249|938250|938251|938252|938253|938254|938255|938256|938257|938258|938259|938260|938261|938262|938263|938264|940442|940443|940444|941203|950321|950322|950323|950324|950325|950326|950327|950328|950329|950330|950331|950332|950333|950334|950335|950336|950337|950338|958334|958335|958336|958337|958338|958339|958340|958341|960250|960251|960899|960900", + "text": "Epidermodysplasia verruciformis" + }, + { + "baseId": "467804|468096|468293|531155|531158|531164|531165|531170|531174|531364|531366|531368|531420|531422|531427|531428|531641|531643|531649|531652|531666|571221|571225|571227|571533|571534|574500|646092|646093|646094|646095|646096|646097|646098|646099|646100|646101|646102|646103|646104|646105|646106|646107|652969|652972|727223|727224|727225|727226|740822|740823|744995|771590|785621|845498|845499|845500|845501|845502|845503|845504|845505|845506|845507|845508|845509|845510|845511|845512|845513|845514|852878|928343|928344|928345|928346|928347|928348|928349|937986|937987|937988|937989|937990|937991|937992|937993|937994|949977|949978|949979|949980|949981|958146", + "text": "NIK deficiency" + }, + { + "baseId": "469009|626445|626446|655042|679026|679062|679064|679065|679066|679067|679068|679074|679076|679077|679078|679086|679091|679104|679109|679114|679115|679126|679131|679135|679137|679139|679151|679154|679164|679166|679168|679169|679170", + "text": "Esophageal atresia" + }, + { + "baseId": "469009|513978|655042|679026|679062|679064|679065|679066|679067|679068|679074|679076|679077|679078|679086|679091|679104|679109|679114|679115|679126|679131|679135|679137|679139|679151|679154|679164|679166|679168|679169|679170", + "text": "Pyloric stenosis" + }, + { + "baseId": "469648", + "text": "SCN1B-Related Disorder" + }, + { + "baseId": "471580|965351|965352", + "text": "Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia" + }, + { + "baseId": "471610|973014", + "text": "Complete trisomy 21 syndrome" + }, + { + "baseId": "472237|472238|472239|906188|970665", + "text": "Glycosylphosphatidylinositol biosynthesis defect 16" + }, + { + "baseId": "472250|472251|472252", + "text": "Myopia 26, X-linked, female-limited" + }, + { + "baseId": "472744", + "text": "MSH2-related disorder" + }, + { + "baseId": "473799|550670", + "text": "Gastrointestinal stromal tumor of small intestine" + }, + { + "baseId": "473816", + "text": "Papillary renal cell carcinoma" + }, + { + "baseId": "476010|476355", + "text": "Acroleukopathy, symmetric" + }, + { + "baseId": "476701", + "text": "Polymerase proofreading associated polyposis" + }, + { + "baseId": "480423|682661|682662|682664|682665|682666|857384|983693", + "text": "Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies" + }, + { + "baseId": "480513|480514|536006|536007|536138|536160|536186|550148", + "text": "Rajab interstitial lung disease with brain calcifications" + }, + { + "baseId": "480531|480532|480533|480534|540434|540435", + "text": "Mitochondrial complex 1 deficiency, nuclear type 33" + }, + { + "baseId": "480548|480549|480550|581865", + "text": "Congenital ATN1 related disorder" + }, + { + "baseId": "480561|480562|480563|480564|964730|964732", + "text": "Combined immunodeficiency due to GINS1 deficiency" + }, + { + "baseId": "480578", + "text": "Spondyloepimetaphyseal dysplasia, Shohat type" + }, + { + "baseId": "480602", + "text": "Indifference to pain, congenital, autosomal dominant" + }, + { + "baseId": "480613|480614|480616|480617|480618|798801|964898", + "text": "Basilicata-Akhtar syndrome" + }, + { + "baseId": "480624|481174|481175|589847|589848|589849|589850|589851", + "text": "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome" + }, + { + "baseId": "480624|481174|481175", + "text": "Inflammatory bowel disease, immunodeficiency, and encephalopathy" + }, + { + "baseId": "480785|480786|480787|480788|480789|480790|480791|480792|480793|480794|480795|480796|480797|480798|480799|480800|480801|480802|480803|480804|480805|480806|480807|480808|480809|480810|480811|480812|480813|480814|480815|480816|480817|612011|622842", + "text": "Ependymoma" + }, + { + "baseId": "481073|481075|650514|973110|973111", + "text": "Robinow syndrome, autosomal recessive 2" + }, + { + "baseId": "481074|481075|481076", + "text": "Distal shortening of limbs" + }, + { + "baseId": "481083", + "text": "Congenital short bowel syndrome, X-linked" + }, + { + "baseId": "481154", + "text": "Alopecia-intellectual disability syndrome 1" + }, + { + "baseId": "481155", + "text": "alpha, alpha-Trehalase deficiency" + }, + { + "baseId": "481159|481160", + "text": "Congenital disorder of glycosylation, type Ibb" + }, + { + "baseId": "481193|481194|481195|790985", + "text": "Amyotrophic lateral sclerosis type 23" + }, + { + "baseId": "481279|481280|963166", + "text": "Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy" + }, + { + "baseId": "481308", + "text": "Intellectual disability, seizures, abnormal gait and distinctive facial features" + }, + { + "baseId": "481328", + "text": "X-linked recessive seizure and neurodevelopmental deficit" + }, + { + "baseId": "481523|481524", + "text": "Short-rib thoracic dysplasia 18 with polydactyly" + }, + { + "baseId": "481592", + "text": "COL9A2-Related Disorders" + }, + { + "baseId": "481612|536235", + "text": "SCN2A-related disorder" + }, + { + "baseId": "481865|620819", + "text": "OPTN-Related Disorders" + }, + { + "baseId": "482055|513448|550329|575499|575500", + "text": "IRF2BPL-related condition" + }, + { + "baseId": "482079|539426|539427|539428|677448|980899", + "text": "Cardiomyopathy, familial hypertrophic 27" + }, + { + "baseId": "482150|539420|539422|539423|539424|609317|609318|609319|609320|609321|609322|609323|609324|609325|609326|609327|609328|609329|609330|609331|609332|677456|798720|805975|816534|966892|966893|966894|966895|980382", + "text": "Mental retardation, autosomal dominant 57" + }, + { + "baseId": "482203|970255|970320|970351", + "text": "Rubinstein taybi like syndrome" + }, + { + "baseId": "482261", + "text": "SMC1A-related cohesinopathy" + }, + { + "baseId": "482273", + "text": "CACNA1H-related disorder" + }, + { + "baseId": "482290|587102", + "text": "Retinitis pigmentosa 81" + }, + { + "baseId": "482317", + "text": "Combined oxidative phosphorylation deficiency 34" + }, + { + "baseId": "482318|482320|501889", + "text": "Corneal dystrophy, posterior polymorphous 4" + }, + { + "baseId": "485862|508752|513224|980482", + "text": "Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant" + }, + { + "baseId": "485877|485878|919212", + "text": "Leber congenital amaurosis with early-onset deafness" + }, + { + "baseId": "485881", + "text": "MFSD12 POLYMORPHISM" + }, + { + "baseId": "485952", + "text": "Neoplasm of the central nervous system" + }, + { + "baseId": "486598|486599|486600|486601|486602", + "text": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19" + }, + { + "baseId": "486669|486670", + "text": "Multiple synostoses syndrome 4" + }, + { + "baseId": "486675|486676", + "text": "SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY" + }, + { + "baseId": "486675|486676|486677|486678|550898", + "text": "Short-rib thoracic dysplasia 19 with or without polydactyly" + }, + { + "baseId": "486695|919510|919511|974886", + "text": "Developmental and epileptic encephalopathy, 66" + }, + { + "baseId": "486703|550170", + "text": "Leukodystrophy, hypomyelinating, 14" + }, + { + "baseId": "486726|486727", + "text": "Pediatric metastatic thyroid tumour" + }, + { + "baseId": "486748|511754|535681|535682|535685|609309|788825|961289", + "text": "Developmental and epileptic encephalopathy, 64" + }, + { + "baseId": "486810|486811|486812|798663|816475|919463", + "text": "Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8" + }, + { + "baseId": "487471|487565|917021", + "text": "Congenital heart disease (variable)" + }, + { + "baseId": "488076", + "text": "Primary ovarian failure" + }, + { + "baseId": "488080|488081|488082|563452|836478", + "text": "Early infantile epileptic encephalopathy 59" + }, + { + "baseId": "488085|488086", + "text": "Erythrocytosis, familial, 5" + }, + { + "baseId": "488087|976709", + "text": "Diamond-Blackfan anemia-like" + }, + { + "baseId": "488091|488092|488093|488094|965630", + "text": "Congenital heart defects, multiple types, 5" + }, + { + "baseId": "488127", + "text": "Islet cell adenomatosis" + }, + { + "baseId": "488146|488147|539094", + "text": "Myotonic dystrophy" + }, + { + "baseId": "488173", + "text": "Kala-azar susceptibility 2" + }, + { + "baseId": "489148", + "text": "COL11A2-Related Disorders" + }, + { + "baseId": "489148|514005|966698|966716|966717", + "text": "Short long bone" + }, + { + "baseId": "489148|966698|966727|966728|966729|966731", + "text": "Thickened nuchal skin fold" + }, + { + "baseId": "490222|801106", + "text": "Focal Segmental Glomerulosclerosis 10" + }, + { + "baseId": "492743|496667", + "text": "Fever-associated acute infantile liver failure syndrome" + }, + { + "baseId": "493436", + "text": "SMAD3-Related Disorder" + }, + { + "baseId": "494917", + "text": "Mild hemophilia A" + }, + { + "baseId": "494918|672075", + "text": "Neurodegeneration with brain iron accumulation 8" + }, + { + "baseId": "494920|494921|494922|494923|494924|494925|971580", + "text": "Amyloidosis, primary localized cutaneous, 3" + }, + { + "baseId": "494926|494927|626156|626157", + "text": "Neurodegeneration with brain iron accumulation 7" + }, + { + "baseId": "495005|495006|495007|495008|495009|495010|495011|965270|966362", + "text": "Microcephaly 20, primary, autosomal recessive" + }, + { + "baseId": "495473|963199|963200|963202|963203", + "text": "Tolchin-Le Caignec syndrome" + }, + { + "baseId": "495535", + "text": "PHIP-Related disorders" + }, + { + "baseId": "495552", + "text": "CENPJ-Related Disorders" + }, + { + "baseId": "495916|495917|495918|495919", + "text": "Amyotrophic lateral sclerosis, susceptibility to, 25" + }, + { + "baseId": "495920", + "text": "BLOOD GROUP, MN" + }, + { + "baseId": "496106|496107|496108", + "text": "Short-rib thoracic dysplasia 20 with polydactyly" + }, + { + "baseId": "496109", + "text": "Orofaciodigital syndrome 17" + }, + { + "baseId": "496109", + "text": "Mohr syndrome" + }, + { + "baseId": "496318", + "text": "Rare isolated myopia" + }, + { + "baseId": "496338", + "text": "Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization" + }, + { + "baseId": "496684", + "text": "Hypotonia-speech impairment-severe cognitive delay syndrome" + }, + { + "baseId": "496803", + "text": "Immunodeficiency due to a late component of complement deficiency" + }, + { + "baseId": "497172", + "text": "Respiratory distress associated with prematurity" + }, + { + "baseId": "497235", + "text": "Hereditary ataxia" + }, + { + "baseId": "497421", + "text": "Idiopathic bronchiectasis" + }, + { + "baseId": "497548", + "text": "Hereditary methemoglobinemia" + }, + { + "baseId": "497913|538970|583089", + "text": "Orofaciodigital syndrome 18" + }, + { + "baseId": "498462", + "text": "Neurodevelopmental and congenital anomalies" + }, + { + "baseId": "504813", + "text": "Cocaine-Related Disorders" + }, + { + "baseId": "508703|508704", + "text": "Keratoconus 9" + }, + { + "baseId": "508758", + "text": "Autosomal-Recessive Hereditary Hearing Impairment" + }, + { + "baseId": "508759|508760|508761|508762|858724", + "text": "Epilepsy, juvenile myoclonic, susceptibility to, 10" + }, + { + "baseId": "509021|509022|509023|789366|858343|858344|920100", + "text": "Developmental and epileptic encephalopathy, 60" + }, + { + "baseId": "509054|509055", + "text": "Early infantile epileptic encephalopathy 61" + }, + { + "baseId": "510064", + "text": "Narrow palate" + }, + { + "baseId": "510064", + "text": "Abnormal vena cava morphology" + }, + { + "baseId": "510064", + "text": "Aortic tortuosity" + }, + { + "baseId": "511233", + "text": "H3F3A-related condition" + }, + { + "baseId": "511422|511423", + "text": "Rhizomelic limb shortening with dysmorphic features" + }, + { + "baseId": "511504|538359|583203|583204|608856|961413|964723|964724|970775", + "text": "Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia" + }, + { + "baseId": "511615|969770|969781|969789|969791|969875|969877|969878", + "text": "Chromatinopathy" + }, + { + "baseId": "511653", + "text": "CSNK2B-related intellectual disability with or without epilepsy" + }, + { + "baseId": "511804|551258|551259|551260|551261|798613|858741|861585|920263|964317", + "text": "Mental retardation, autosomal dominant 58" + }, + { + "baseId": "511875|792648|792649|792650|792651", + "text": "Liang-Wang syndrome" + }, + { + "baseId": "511959", + "text": "TRPV4-Associated Disorders" + }, + { + "baseId": "512291|512292", + "text": "Deafness, autosomal recessive 115" + }, + { + "baseId": "512310|513470|966802", + "text": "Vertebral anomalies and variable endocrine and T-cell dysfunction" + }, + { + "baseId": "512539|590974|590977|619890|619891|619892|619893|619894|619895|792082|798772|805123|903646|919957|963939|964896|966601|970513|971166", + "text": "Developmental delay with variable intellectual impairment and behavioral abnormalities" + }, + { + "baseId": "512732", + "text": "DLG3-Related Disorder" + }, + { + "baseId": "513082|590296|861245|861246", + "text": "Proteinuria, chronic benign" + }, + { + "baseId": "513195", + "text": "Seizures, benign familial infantile, 6" + }, + { + "baseId": "513197|513198|513455|624058|624059", + "text": "Shwachman-Diamond syndrome 2" + }, + { + "baseId": "513201", + "text": "Idiopathic transverse myelitis" + }, + { + "baseId": "513203", + "text": "MICROTIA WITHOUT HEARING IMPAIRMENT" + }, + { + "baseId": "513215|513758|613404|984064", + "text": "Hereditary spherocytosis" + }, + { + "baseId": "513252", + "text": "Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency" + }, + { + "baseId": "513287|539003|626168", + "text": "Ullrich congenital muscular dystrophy" + }, + { + "baseId": "513347", + "text": "Osteosclerotic metaphyseal dysplasia" + }, + { + "baseId": "513410", + "text": "EVI5-related condition" + }, + { + "baseId": "513412", + "text": "TRIP12 associated autism with facial dysmorphology" + }, + { + "baseId": "513423", + "text": "ZNF292-related neurodevelopmental condition" + }, + { + "baseId": "513429|513430", + "text": "SNAPC4-associated inflammatory disease" + }, + { + "baseId": "513431|513432", + "text": "ABCA2-related condition" + }, + { + "baseId": "513435|513436", + "text": "AGTPBP1-related condition" + }, + { + "baseId": "513435|513436|590700|590701|590702|590703|590704|590705|971341|971342|973103", + "text": "Neurodegeneration, childhood-onset, with cerebellar atrophy" + }, + { + "baseId": "513439", + "text": "SPI1-related eosinophilia syndrome" + }, + { + "baseId": "513442|623048", + "text": "MYBPC1-related condition" + }, + { + "baseId": "513444", + "text": "GDF11-associated multiple congenital anomalies and ID" + }, + { + "baseId": "513445", + "text": "SMARCC2-related condition" + }, + { + "baseId": "513446|539441|539442", + "text": "Proteasome-associated autoinflammatory syndrome 2" + }, + { + "baseId": "513453|513454|613433", + "text": "Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination" + }, + { + "baseId": "513456|513457", + "text": "GLYR1-related condition" + }, + { + "baseId": "513461", + "text": "USP7-related condition" + }, + { + "baseId": "513470", + "text": "TBX2-related condition" + }, + { + "baseId": "513549|615790|677277|822295|970796", + "text": "Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1" + }, + { + "baseId": "513600", + "text": "DEND syndrome" + }, + { + "baseId": "513616", + "text": "Xeroderma pigmentosum and Cockayne syndrome complex" + }, + { + "baseId": "513645|625967|625968", + "text": "Pearson syndrome" + }, + { + "baseId": "513701", + "text": "PBX1-related intellectual disability and pleiotropic developmental defects" + }, + { + "baseId": "513704|964899", + "text": "Intellectual disability, x-linked 107" + }, + { + "baseId": "513705|576291", + "text": "Arthrogryposis multiplex congenita 2, neurogenic type" + }, + { + "baseId": "513721|513722|513723", + "text": "Elsahy-Waters syndrome" + }, + { + "baseId": "513746|513747|513748", + "text": "Osteogenesis imperfecta, type 18" + }, + { + "baseId": "513759|513760|513761|513762|513763|788734|789345|789346", + "text": "Leukodystrophy, hypomyelinating, 15" + }, + { + "baseId": "513764|513765|513766|513767|513768", + "text": "Multiple mitochondrial dysfunctions syndrome 6" + }, + { + "baseId": "513764", + "text": "PMPCB-related mitochondrial disorder" + }, + { + "baseId": "513769", + "text": "Hyperostosis cranialis interna" + }, + { + "baseId": "513781", + "text": "AKT1 Inhibitor response" + }, + { + "baseId": "513782", + "text": "WEE1 Inhibitor response" + }, + { + "baseId": "513793|513796|513799", + "text": "VEGF Inhibitors response" + }, + { + "baseId": "513798", + "text": "MEK Inhibitor response" + }, + { + "baseId": "513800|513801", + "text": "mTOR Inhibitor response" + }, + { + "baseId": "513815|513816", + "text": "PDS5A-related disorder" + }, + { + "baseId": "513825", + "text": "WAPL-related disorder" + }, + { + "baseId": "513826|513827|513828|513829|513830|513848", + "text": "STAG2-related disorder" + }, + { + "baseId": "513827|513828|513830|612202|612203|612204|798804|798805", + "text": "Mullegama-Klein-Martinez syndrome" + }, + { + "baseId": "513861|513862|513863", + "text": "Combined oxidative phosphorylation deficiency 36" + }, + { + "baseId": "513864|513865|615240|615241", + "text": "Spermatogenic failure 24" + }, + { + "baseId": "513884", + "text": "Spermatogenic failure 26" + }, + { + "baseId": "513887", + "text": "Leukodystrophy, hypomyelinating, 16" + }, + { + "baseId": "513889", + "text": "Adrenal pheochromocytoma" + }, + { + "baseId": "513889", + "text": "Recurrent paroxysmal headache" + }, + { + "baseId": "513891", + "text": "Palmoplantar hyperhidrosis" + }, + { + "baseId": "513891|513990", + "text": "Atrophic scars" + }, + { + "baseId": "513896", + "text": "Constipation" + }, + { + "baseId": "513896", + "text": "Abnormal urinary color" + }, + { + "baseId": "513905", + "text": "Hyperglycemia" + }, + { + "baseId": "513906|513959|514053|677975", + "text": "Arteriovenous malformation" + }, + { + "baseId": "513907", + "text": "Bilateral cleft palate" + }, + { + "baseId": "513907", + "text": "Absent gallbladder" + }, + { + "baseId": "513911", + "text": "Low-output congestive heart failure" + }, + { + "baseId": "513914", + "text": "Late-onset muscular dystrophy" + }, + { + "baseId": "513915", + "text": "Severe photosensitivity" + }, + { + "baseId": "513917|513990", + "text": "Hyperextensible skin" + }, + { + "baseId": "513917", + "text": "Spinal deformities" + }, + { + "baseId": "513926", + "text": "Abnormal myelination" + }, + { + "baseId": "513927|513928", + "text": "Amenorrhea" + }, + { + "baseId": "513929", + "text": "Optic disc drusen" + }, + { + "baseId": "513931", + "text": "Absent muscle fiber dysferlin" + }, + { + "baseId": "513945", + "text": "Teratoma" + }, + { + "baseId": "513945|626447|626448|626449|626450", + "text": "Imperforate anus" + }, + { + "baseId": "513946", + "text": "Progressive gait ataxia" + }, + { + "baseId": "513953", + "text": "Hydrocele testis" + }, + { + "baseId": "513967", + "text": "Ventricular arrhythmia" + }, + { + "baseId": "513970", + "text": "Skeletal muscle hypertrophy" + }, + { + "baseId": "513970", + "text": "Lumbar hyperlordosis" + }, + { + "baseId": "513970", + "text": "Hypoplasia of the maxilla" + }, + { + "baseId": "513972|514028", + "text": "Vasculitis" + }, + { + "baseId": "513977", + "text": "Chorioretinal coloboma" + }, + { + "baseId": "513977", + "text": "Pulmonary artery atresia" + }, + { + "baseId": "513977", + "text": "Retinal coloboma" + }, + { + "baseId": "513978", + "text": "Choanal atresia" + }, + { + "baseId": "513985", + "text": "Pulmonary arteriovenous malformation" + }, + { + "baseId": "513985", + "text": "Palate telangiectasia" + }, + { + "baseId": "513985|514023", + "text": "Oral cavity telangiectasia" + }, + { + "baseId": "513987", + "text": "Angiofibromas" + }, + { + "baseId": "513987", + "text": "Renal angiomyolipoma" + }, + { + "baseId": "513990", + "text": "Cigarette-paper scars" + }, + { + "baseId": "513990", + "text": "Large joint dislocations" + }, + { + "baseId": "513995", + "text": "Impaired gluconeogenesis" + }, + { + "baseId": "513995", + "text": "Abnormality of acid-base homeostasis" + }, + { + "baseId": "514002", + "text": "Loss of consciousness" + }, + { + "baseId": "514023", + "text": "Lip telangiectasia" + }, + { + "baseId": "514032", + "text": "Pachygyria" + }, + { + "baseId": "514035|514036", + "text": "Cobalamin deficiency" + }, + { + "baseId": "514043|514327", + "text": "Aplasia/Hypoplasia of the corpus callosum" + }, + { + "baseId": "514050|514187", + "text": "Striae distensae" + }, + { + "baseId": "514050", + "text": "Pulmonary artery dilatation" + }, + { + "baseId": "514051", + "text": "Myxomatous mitral valve degeneration" + }, + { + "baseId": "514051", + "text": "Lumbar scoliosis" + }, + { + "baseId": "514059|679672", + "text": "Enlarged kidney" + }, + { + "baseId": "514069|514070|608886|608887|608888|608889|608891|608892|608893|971066", + "text": "Ciliary dyskinesia, primary, 40" + }, + { + "baseId": "514079", + "text": "Premature birth" + }, + { + "baseId": "514084", + "text": "Reduced bone mineral density" + }, + { + "baseId": "514092", + "text": "Tension-type headache" + }, + { + "baseId": "514099|623231", + "text": "Apnea" + }, + { + "baseId": "514103", + "text": "Myopathic facies" + }, + { + "baseId": "514103", + "text": "Axial muscle stiffness" + }, + { + "baseId": "514106|622034|963005|963006|963007|963008|963009|963010|963011|963012|963013|963014|963015|963016|963017|963018|963019|963020|963021|963022|963023|963024|963025|963026|963027|963028|963029|963030|963031|963032|963033|963034|963035|963036|963037|963038|963039|963040|963041|963042|963043|963044|963045|963046|963047|963048|963049|963050|963051|963052|963053|963054|963055|963056|963057|963058|963059", + "text": "Aganglionic megacolon" + }, + { + "baseId": "514106", + "text": "Abnormality of the rectum" + }, + { + "baseId": "514114|792691", + "text": "Nephropathy" + }, + { + "baseId": "514115", + "text": "Unilateral deafness" + }, + { + "baseId": "514116", + "text": "Nephritis" + }, + { + "baseId": "514116", + "text": "Global glomerulosclerosis" + }, + { + "baseId": "514117", + "text": "Elevated mean arterial pressure" + }, + { + "baseId": "514119", + "text": "Sepsis" + }, + { + "baseId": "514122", + "text": "Abnormality of the nail" + }, + { + "baseId": "514122", + "text": "Bifid nail" + }, + { + "baseId": "514122", + "text": "Ridged nail" + }, + { + "baseId": "514123", + "text": "Unilateral polymicrogyria" + }, + { + "baseId": "514123", + "text": "Frontoparietal polymicrogyria" + }, + { + "baseId": "514125", + "text": "Encephalitis" + }, + { + "baseId": "514125", + "text": "Episodic fever" + }, + { + "baseId": "514125|514142", + "text": "Myocarditis" + }, + { + "baseId": "514126", + "text": "Arterial thrombosis" + }, + { + "baseId": "514127", + "text": "Subependymal nodules" + }, + { + "baseId": "514133", + "text": "Abnormal muscle fiber dystrophin expression" + }, + { + "baseId": "514137", + "text": "Mild fetal ventriculomegaly" + }, + { + "baseId": "514140", + "text": "Low-molecular-weight proteinuria" + }, + { + "baseId": "514140", + "text": "Multiple small medullary renal cysts" + }, + { + "baseId": "514143", + "text": "Absent pubic hair" + }, + { + "baseId": "514143", + "text": "Absent axillary hair" + }, + { + "baseId": "514143", + "text": "Female external genitalia in individual with 46,XY karyotype" + }, + { + "baseId": "514148", + "text": "Chorioretinal atrophy" + }, + { + "baseId": "514150", + "text": "Optic neuritis" + }, + { + "baseId": "514152", + "text": "Oromandibular dystonia" + }, + { + "baseId": "514154", + "text": "Steppage gait" + }, + { + "baseId": "514155", + "text": "Incomprehensible speech" + }, + { + "baseId": "514159|514160", + "text": "Peripheral hypomyelination" + }, + { + "baseId": "514170", + "text": "Narrow mouth" + }, + { + "baseId": "514173", + "text": "Long face" + }, + { + "baseId": "514173", + "text": "Proximal placement of thumb" + }, + { + "baseId": "514176", + "text": "Epileptic spasms" + }, + { + "baseId": "514184", + "text": "Coarctation of aorta" + }, + { + "baseId": "514185", + "text": "Hearing abnormality" + }, + { + "baseId": "514187", + "text": "Abnormality of the mitral valve" + }, + { + "baseId": "514208|621018", + "text": "Facial hemangioma" + }, + { + "baseId": "514213", + "text": "Torticollis" + }, + { + "baseId": "514216|514217|801187|801188", + "text": "Migraine with aura" + }, + { + "baseId": "514218", + "text": "Short phalanx of finger" + }, + { + "baseId": "514218", + "text": "Sandal gap" + }, + { + "baseId": "514218", + "text": "Hypermetropia" + }, + { + "baseId": "514221", + "text": "Frontal bossing" + }, + { + "baseId": "514263", + "text": "LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7" + }, + { + "baseId": "514264|609315", + "text": "Spermatogenic failure 27" + }, + { + "baseId": "514265", + "text": "Synostosis involving bones of the lower limbs" + }, + { + "baseId": "514265", + "text": "Severe postnatal growth retardation" + }, + { + "baseId": "514266", + "text": "AFib amyloidosis" + }, + { + "baseId": "514277", + "text": "Intellectual disability syndrome due to a DYRK1A point mutation" + }, + { + "baseId": "514293", + "text": "Human immunodeficiency virus type 1, rapid progression to AIDS" + }, + { + "baseId": "514305|514306|514307|575488|612052|790402|790403|790404|918153|970773|977199", + "text": "Ververi-Brady syndrome" + }, + { + "baseId": "514310|514311", + "text": "Abnormality of the ribs" + }, + { + "baseId": "514310|514311|550882|550883|800785", + "text": "External ophthalmoplegia" + }, + { + "baseId": "514310|514311", + "text": "Ophthalmoplegia, external, with rib and vertebral anomalies" + }, + { + "baseId": "514432", + "text": "NFIA-related disorders" + }, + { + "baseId": "514844", + "text": "Microcephaly 23, primary, autosomal recessive" + }, + { + "baseId": "514845|514846|514847", + "text": "Microcephaly 22, primary, autosomal recessive" + }, + { + "baseId": "514850", + "text": "Microcephaly 21, primary, autosomal recessive" + }, + { + "baseId": "517552|619120|620052|620053", + "text": "APOB-Related Disorders" + }, + { + "baseId": "520495|620169|620170", + "text": "EVC-Related Disorders" + }, + { + "baseId": "521177|521178|560315|560448|633932|633933|633934|633935|691852|830834|830835|932903|932904|940815|944616", + "text": "Pure or complex autosomal recessive spastic paraplegia" + }, + { + "baseId": "525349|639123|919283", + "text": "Lymphoma, Non-Hodgkin, Familial" + }, + { + "baseId": "528414", + "text": "Inherited spastic paresis" + }, + { + "baseId": "533574", + "text": "KCNB1-related disorder" + }, + { + "baseId": "535228", + "text": "Abnormal sperm morphology" + }, + { + "baseId": "535228", + "text": "Reduced sperm motility" + }, + { + "baseId": "535230", + "text": "Echogenic fetal bowel" + }, + { + "baseId": "535230", + "text": "Bilateral fetal pyelectasis" + }, + { + "baseId": "535231|535232|535233|535234|789367|963142", + "text": "Jaberi-Elahi syndrome" + }, + { + "baseId": "535285|535286|535287|535288|536191", + "text": "Ehlers-danlos syndrome, classic-like, 2" + }, + { + "baseId": "535380", + "text": "Recurrent encephalopathy" + }, + { + "baseId": "535380|622762|622764|622765", + "text": "Encephalopathy, acute, infection-induced, susceptibility to, 9" + }, + { + "baseId": "535383", + "text": "DACT1-related neural tube defects" + }, + { + "baseId": "535386", + "text": "13q partial monosomy syndrome" + }, + { + "baseId": "535693|792798|966164|966165", + "text": "Diarrhea" + }, + { + "baseId": "535693|550130", + "text": "Failure to thrive in infancy" + }, + { + "baseId": "535693", + "text": "Chronic diarrhea" + }, + { + "baseId": "535693", + "text": "Impaired feeding ability" + }, + { + "baseId": "535700|556483|615915", + "text": "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8" + }, + { + "baseId": "535725|535726|535727|535728|970528", + "text": "Congenital disorder of glycosylation with defective fucosylation 1" + }, + { + "baseId": "535729|535730|535731|965424|965425|965426", + "text": "OOCYTE MATURATION DEFECT 5" + }, + { + "baseId": "535752", + "text": "Deafness, autosomal recessive 26" + }, + { + "baseId": "535756|535757|535758", + "text": "Hyperekplexia 4" + }, + { + "baseId": "536004", + "text": "Isolated nail anomaly" + }, + { + "baseId": "536009", + "text": "Premature ovarian failure 14" + }, + { + "baseId": "536010|536011", + "text": "Deafness, autosomal recessive 109" + }, + { + "baseId": "536026|536027|536028|536029|575487|961597|983652|983653", + "text": "Epileptic encephalopathy, infantile or early childhood 3" + }, + { + "baseId": "536041", + "text": "SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY" + }, + { + "baseId": "536042", + "text": "gamma-Glutamyltransferase deficiency" + }, + { + "baseId": "536060", + "text": "Anomalous pulmonary venous return" + }, + { + "baseId": "536064|857664|857665|857666|857667|857668|857669|857670", + "text": "Conotruncal defect" + }, + { + "baseId": "536074", + "text": "Protoporphyria, erythropoietic, 2" + }, + { + "baseId": "536086|536087", + "text": "CYP2C8 POLYMORPHISM" + }, + { + "baseId": "536130|536131", + "text": "Glycosylphosphatidylinositol biosynthesis defect 17" + }, + { + "baseId": "536132|536133", + "text": "Tetraamelia syndrome 2" + }, + { + "baseId": "536134", + "text": "Humerofemoral hypoplasia with radiotibial ray deficiency" + }, + { + "baseId": "536135", + "text": "Waardenburg syndrome type 2" + }, + { + "baseId": "536136", + "text": "Cleft palate, proliferative retinopathy, and developmental delay" + }, + { + "baseId": "536137", + "text": "RFT1 related CDG" + }, + { + "baseId": "536138|536151|536160|536186|536187", + "text": "Interstitial pneumonitis" + }, + { + "baseId": "536138|536151|536160|536186|536187", + "text": "Cirrhosis of liver" + }, + { + "baseId": "536169|536170|536171|536172|536173|983569", + "text": "Charcot-marie-tooth disease, axonal, type 2DD" + }, + { + "baseId": "536184", + "text": "BMPR1A Skeletal Dysplasia Syndrome" + }, + { + "baseId": "536185|538933|538934|578020", + "text": "Spermatogenic failure 33" + }, + { + "baseId": "536185", + "text": "multiple morphologic abnormalities of the sperm flagellum" + }, + { + "baseId": "536185", + "text": "dysplasia of the mitochondrial sheath" + }, + { + "baseId": "536185", + "text": "asthenozoospermia" + }, + { + "baseId": "536236|620735", + "text": "TTC21B-Related Disorders" + }, + { + "baseId": "536352", + "text": "ROR2-Related Disorders" + }, + { + "baseId": "536834", + "text": "GRIN2B-Related Disorder" + }, + { + "baseId": "537303|556459|919788|961430|961433|964749", + "text": "Optic atrophy 12" + }, + { + "baseId": "537654", + "text": "Suxamethonium response - slow metabolism" + }, + { + "baseId": "537662|537663|537664|537665|614692|614693", + "text": "Keipert syndrome" + }, + { + "baseId": "538327|578378|906220|906221|906222|906223|906224|906225|906226|906227|906228|906229", + "text": "Rokitansky Kuster Hauser syndrome" + }, + { + "baseId": "538391|590732", + "text": "Fulminant hepatic failure" + }, + { + "baseId": "538391|538392|590732|680031|680032|970558", + "text": "Infantile liver failure syndrome 3" + }, + { + "baseId": "538603", + "text": "lovastatin response - Efficacy" + }, + { + "baseId": "538604", + "text": "sunitinib response - Toxicity/ADR" + }, + { + "baseId": "538616", + "text": "Parkinsonism-dystonia, infantile, 2" + }, + { + "baseId": "538617|538618|538619|538620", + "text": "Mitochondrial complex 1 deficiency, nuclear type 32" + }, + { + "baseId": "538627|623665|623666|623667|919022|970829", + "text": "Coffin-Siris syndrome 10" + }, + { + "baseId": "538627|623665|623666|623667", + "text": "Mild facial and digital morphological abnormalities" + }, + { + "baseId": "538927|615334|615335", + "text": "Impaired ADP-induced platelet aggregation" + }, + { + "baseId": "538933|538934|654330", + "text": "Non-syndromic male infertility due to sperm motility disorder" + }, + { + "baseId": "538933|538934|609187|615983|615984|615985|615986|800342|800343", + "text": "Male infertility with teratozoospermia due to single gene mutation" + }, + { + "baseId": "538954", + "text": "Fasting plasma glucose level quantitative trait locus 1" + }, + { + "baseId": "538975|905825|905826|905827|905828", + "text": "Fanconi renotubular syndrome 1" + }, + { + "baseId": "538996", + "text": "Acetyl-CoA acetyltransferase-2 deficiency" + }, + { + "baseId": "539044", + "text": "POLE Exonuclease Domain Mutation" + }, + { + "baseId": "539116|539117|539118|539119|621023|789341|789342|789343", + "text": "Periventricular nodular heterotopia" + }, + { + "baseId": "539117|539118|539119|789341|789342|789343|918530|918978|977217", + "text": "Periventricular nodular heterotopia 9" + }, + { + "baseId": "539127", + "text": "Neuromotor delay" + }, + { + "baseId": "539144", + "text": "Kaposiform hemangioendothelioma" + }, + { + "baseId": "539144", + "text": "Lobular capillary hemangioma" + }, + { + "baseId": "539144", + "text": "Congenital tufted angioma" + }, + { + "baseId": "539159", + "text": "Hemolytic-uremic syndrome" + }, + { + "baseId": "539160", + "text": "Lobular capillary hemangiomas" + }, + { + "baseId": "539162|742567|980853", + "text": "Congenital anomalies of kidney and urinary tract 3" + }, + { + "baseId": "539187", + "text": "RTEL1-related Disorders" + }, + { + "baseId": "539431", + "text": "SLC9A7-related neurodevelopmental disorder" + }, + { + "baseId": "539431", + "text": "Intellectual developmental disorder, X-linked 108" + }, + { + "baseId": "539434", + "text": "Glaucoma 1, open angle, B" + }, + { + "baseId": "539437|539438|539439|539477", + "text": "Proteasome-associated autoinflammatory syndrome 3" + }, + { + "baseId": "539475|539476|634822", + "text": "PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC" + }, + { + "baseId": "539960|539961|539962", + "text": "Extra oral halitosis" + }, + { + "baseId": "539960|539961|539962|576310", + "text": "Extraoral halitosis due to methanethiol oxidase deficiency" + }, + { + "baseId": "539967|977164|977313|977314|977316", + "text": "Decreased antibody level in blood" + }, + { + "baseId": "539978", + "text": "Poor motor coordination" + }, + { + "baseId": "540441", + "text": "Spinal muscular atrophy, facioscapulohumeral type" + }, + { + "baseId": "540443", + "text": "Autosomal recessive distal hereditary motor neuropathy" + }, + { + "baseId": "540459|610399|610400|610402|610403", + "text": "Myasthenic syndrome, congenital, 25, presynaptic" + }, + { + "baseId": "540570|540571", + "text": "Pontocerebellar hypoplasia, type 1d" + }, + { + "baseId": "540570", + "text": "Cerebral atrophy" + }, + { + "baseId": "540572|540573|540574|540575|540576|975663|980320", + "text": "Polycystic kidney disease 6 with or without polycystic liver disease" + }, + { + "baseId": "540580|540581", + "text": "Bone marrow failure syndrome 5" + }, + { + "baseId": "540582", + "text": "Phocomelia" + }, + { + "baseId": "540582", + "text": "Bilateral cleft lip and palate" + }, + { + "baseId": "540583|540584|540585|540586|540587|798630", + "text": "Ciliary dyskinesia, primary, 38" + }, + { + "baseId": "546178", + "text": "KCNJ11-Related Disorders" + }, + { + "baseId": "549007", + "text": "LAMA3-Related Disorders" + }, + { + "baseId": "549494|590364", + "text": "1q24q25 microdeletion syndrome" + }, + { + "baseId": "549495|549496|980402", + "text": "Osteogenesis imperfecta, type 19" + }, + { + "baseId": "550117|970789", + "text": "Epilepsy, familial adult myoclonic, 7" + }, + { + "baseId": "550118", + "text": "Epilepsy, familial adult myoclonic, 6" + }, + { + "baseId": "550129|550226|818753|818754|818755|818756", + "text": "Mandibular prognathia" + }, + { + "baseId": "550129|550226", + "text": "Narrow nasal bridge" + }, + { + "baseId": "550131", + "text": "Short philtrum" + }, + { + "baseId": "550141|550142", + "text": "Combined oxidative phosphorylation deficiency 41" + }, + { + "baseId": "550143|550144|550146|853057|853058", + "text": "Combined oxidative phosphorylation deficiency 40" + }, + { + "baseId": "550147", + "text": "Combined oxidative phosphorylation deficiency 42" + }, + { + "baseId": "550171|550172", + "text": "Neurodevelopmental disorder with spasticity and poor growth" + }, + { + "baseId": "550173", + "text": "Inflammatory bowel disease 29" + }, + { + "baseId": "550206", + "text": "Ovarian dysgenesis 6" + }, + { + "baseId": "550223|550224", + "text": "LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8" + }, + { + "baseId": "550227|553415", + "text": "Abnormality of esophagus physiology" + }, + { + "baseId": "550229", + "text": "overriding digits" + }, + { + "baseId": "550229", + "text": "clino-symphalangism" + }, + { + "baseId": "550229", + "text": "Osteochondrodysplasia, brachydactyly, and overlapping malformed digits" + }, + { + "baseId": "550241|550242|970660", + "text": "Peeling skin syndrome 6" + }, + { + "baseId": "550298", + "text": "Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus" + }, + { + "baseId": "550305|550306|550307|550308|550309|550310", + "text": "Congenital malrotation of intestine" + }, + { + "baseId": "550314", + "text": "Atrial fibrillation, familial, 1" + }, + { + "baseId": "550317|550318|550319", + "text": "Moyamoya disease 1" + }, + { + "baseId": "550321|550322|550323|550324|550325|550326|626460|677962|792598|798509|816504|858763|906197|906199|963522|963523|964203|964813|964814|965214|970746|972528|976646", + "text": "Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities" + }, + { + "baseId": "550327|550328|858752", + "text": "Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum" + }, + { + "baseId": "550329|550330|550331|550332|550333|590379|590380|791423|964862|964992|971002|974523", + "text": "Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures" + }, + { + "baseId": "550357", + "text": "ITPR1-associated cerebellar ataxia spectrum disorder" + }, + { + "baseId": "550366", + "text": "SCN8A-related epileptic disorder" + }, + { + "baseId": "550565", + "text": "Spermatogenic failure 29" + }, + { + "baseId": "550616|962974|962975", + "text": "Arthrogryposis multiplex congenita 5" + }, + { + "baseId": "550672", + "text": "Klatskin tumor" + }, + { + "baseId": "550690", + "text": "Carcinoma of head of pancreas" + }, + { + "baseId": "550879", + "text": "Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia" + }, + { + "baseId": "550884", + "text": "X-linked congenital hemolytic anemia" + }, + { + "baseId": "550886|976649", + "text": "Intellectual disability, autosomal recessive 63" + }, + { + "baseId": "550890|550891|550892|550893|550894|798683|798684|919553|964418|964863|976704|983659", + "text": "Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities" + }, + { + "baseId": "551234|551235", + "text": "Mental retardation, autosomal recessive 64" + }, + { + "baseId": "551247|551248|551249|551250", + "text": "Neurodevelopmental disorder with seizures and speech and walking impairment" + }, + { + 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"Epilepsy, idiopathic generalized 7" + }, + { + "baseId": "552184|677192|677193|677194|677195|677197|964871|964872|983564", + "text": "Developmental and epileptic encephalopathy, 80" + }, + { + "baseId": "552226|576314", + "text": "Curly hair, ankyloblepharon, nail dysplasia syndrome" + }, + { + "baseId": "552249|578588|626292|626293", + "text": "FLNA related disorders" + }, + { + "baseId": "552270|552271|552272|589847", + "text": "Immunodeficiency 57" + }, + { + "baseId": "552300|552301|798477|861667|903696", + "text": "Bone marrow failure syndrome 4" + }, + { + "baseId": "552302", + "text": "Friedreich ataxia with retained reflexes" + }, + { + "baseId": "552305|552306|552307|552308|552309|552310|552311|622299|798454|798455|861608|861609|921195|921526|971330|971331|984047|984048", + "text": "Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome" + }, + { + "baseId": "552351|552352|552353|970542", + "text": "Polydactyly, postaxial, type A8" + }, + { + "baseId": "552354", + "text": "Liddle syndrome 3" + }, + { + "baseId": "552399", + "text": "Hypoxic Ischemic Encephalopathy" + }, + { + "baseId": "552401|552406|552407", + "text": "Nonsyndromic hearing loss" + }, + { + "baseId": "552409", + "text": "Low renin, low aldosterone hypertension" + }, + { + "baseId": "553119|553120|553121", + "text": "Neurodevelopmental disorder with absent language and variable seizures" + }, + { + "baseId": "553256|553257|553274", + "text": "Autosomal recessive sensorineural hearing loss" + }, + { + "baseId": "553303", + "text": "Wide anterior fontanel" + }, + { + "baseId": "553304", + "text": "Progressive macrocephaly" + }, + { + "baseId": "553305", + "text": "Turricephaly" + }, + { + "baseId": "553306", + "text": "Oxycephaly" + }, + { + "baseId": "553351", + "text": "Chronic colitis" + }, + { + "baseId": "553354|967228", + "text": "Low bone mineral density" + }, + { + "baseId": "553368|553369|553370|553371|980959", + "text": "Trichohepatoneurodevelopmental syndrome" + }, + { + "baseId": "553368|553369|553370|553371", + "text": "Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair" + }, + { + "baseId": "556776|614205|627336|980442", + "text": "Systemic lupus erythematosus 9" + }, + { + "baseId": "557027|558481|622852", + "text": "recessive ARS-related multisystem disease" + }, + { + "baseId": "557659", + "text": "Acute encephalopathy" + }, + { + "baseId": "562130", + "text": "Acute promyelocytic leukemia" + }, + { + "baseId": "568095|961876", + "text": "Glycogen storage disease type IXc" + }, + { + "baseId": "570972", + "text": "IGHMBP2-related neuronopathy" + }, + { + "baseId": "575484", + "text": "MTOR-related megalencephaly and pigmentary mosaicism in skin" + }, + { + "baseId": "575486", + "text": "PRELP-related osteosclerosis" + }, + { + "baseId": "575492", + "text": "TRIM8-related epileptic encephalopathy" + }, + { + "baseId": "575496", + "text": "Motor neuropathy" + }, + { + "baseId": "575503", + "text": "ACOX1-related condition" + }, + { + "baseId": "575503", + "text": "Mitchell syndrome" + }, + { + "baseId": "576071|623373|623374|623375|625775|789381", + "text": "Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome" + }, + { + "baseId": "576097", + "text": "Plasma fibronectin deficiency" + }, + { + "baseId": "576130", + "text": "Dystonia, primary cervical" + }, + { + "baseId": "576131", + "text": "NOTCH1-Related Disorders" + }, + { + "baseId": "576141|789704|789705|789706", + "text": "PU.1-mutated agammaglobulinemia" + }, + { + "baseId": "576177", + "text": "MYH2-related myopathy" + }, + { + "baseId": "576196", + "text": "HUWE1-Related Disorder" + }, + { + "baseId": "576199", + "text": "Mitochondrial DNA-Associated Leigh Syndrome and NARP" + }, + { + "baseId": "576254", + "text": "primray hypomagnesemia with secondary hypocalcemia" + }, + { + "baseId": "576301|950239|980508|980562", + "text": "Usher syndrome, type 4" + }, + { + "baseId": 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"baseId": "577996|577998|577999|578000|578001", + "text": "Lissencephaly with decussation defect" + }, + { + "baseId": "577996|577997|577998|577999|578000|578001|816439|918636|918637|918638|918639|920149|970687|970688", + "text": "Lissencephaly 9 with complex brainstem malformation" + }, + { + "baseId": "578014|578015", + "text": "Abnormal lactate dehydrogenase activity" + }, + { + "baseId": "578014|578015|861066", + "text": "Lactic aciduria due to d-lactic acid" + }, + { + "baseId": "578016|578017|578018|578019", + "text": "Spermatogenic failure 34" + }, + { + "baseId": "578025|578314|920130", + "text": "Warburg-Cinotti syndrome" + }, + { + "baseId": "578026|679688", + "text": "Unilateral renal agenesis" + }, + { + "baseId": "578026|858767|971020", + "text": "Abnormality of finger" + }, + { + "baseId": "578026|920542", + "text": "Coarse facial features" + }, + { + "baseId": "578033|578034|615903", + "text": "Hennekam lymphangiectasia-lymphedema syndrome 3" + }, + { + "baseId": 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"578643|578644|578645|578646|816356|975869", + "text": "Cardiac, facial, and digital anomalies with developmental delay" + }, + { + "baseId": "578659|578664|578665|622714", + "text": "CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B" + }, + { + "baseId": "580923|788952", + "text": "X-linked MED12-related disorder" + }, + { + "baseId": "581201|581202|581203", + "text": "Cortical dysplasia, complex, with other brain malformations 9" + }, + { + "baseId": "581207", + "text": "Atypical chronic myeloid leukemia" + }, + { + "baseId": "581208", + "text": "Chronic myelomonocytic leukemia" + }, + { + "baseId": "581213|964876|970143", + "text": "Spinocerebellar ataxia 48" + }, + { + "baseId": "581229", + "text": "TCF20-related condition" + }, + { + "baseId": "581236|581237|581238|581828|581835|581836|581837|581839|581840|581841|581842|590438", + "text": "Abnormal aortic valve physiology" + }, + { + "baseId": "581239|581240|581241|581242|581243|581244|590640|590641|789964|792717|798472|858541", + "text": "Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures" + }, + { + "baseId": "581254|581255|581256|581257", + "text": "Nephrotic syndrome, type 17" + }, + { + "baseId": "581258|581259|581260", + "text": "Nephrotic syndrome, type 18" + }, + { + "baseId": "581261|581262", + "text": "Nephrotic syndrome, type 19" + }, + { + "baseId": "581265|581266|581267", + "text": "Diarrhea 10, protein-losing enteropathy type" + }, + { + "baseId": "581268|798649", + "text": "Microcephaly 24, primary, autosomal recessive" + }, + { + "baseId": "581270|581271|581272|677961", + "text": "Periventricular nodular heterotopia 8" + }, + { + "baseId": "581700|581701", + "text": "Orthostatic hypotension 2" + }, + { + "baseId": "581702|581703|581704|581705|581706|581707|679885|679886|679887|921213|980331", + "text": "Hyperparathyroidism, transient neonatal" + }, + { + "baseId": "581718", + "text": "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome" + }, + { + "baseId": "581719|581720|581721", + "text": "Cardiomyopathy, dilated, 2c" + }, + { + "baseId": "581723", + "text": "Ovarian dysgenesis 8" + }, + { + "baseId": "581810|581811|581812|581813|581814|581815|581816|581817|581818|581819|611667|679216|679217|679218|679219|679220|679221|679222|679223|679224|679225|679226|679227|679228|679229|679230|679231|679232|679233|679234|679235|679236|679237|679238|970059", + "text": "Capillary malformation-arteriovenous malformation 2" + }, + { + "baseId": "581847", + "text": "MUSCULAR DYSTROPHY, DUCHENNE TYPE" + }, + { + "baseId": "581847", + "text": " DMD" + }, + { + "baseId": "581849|589983|589984|590019|590020", + "text": "Hereditary lymphedema" + }, + { + "baseId": "581871|621042|622035|624879", + "text": "Deafness, autosomal dominant 76" + }, + { + "baseId": "581871", + "text": "Autosomal dominant nonsyndromic hearing impairment" + }, + { + "baseId": "581884|976734", + "text": "Myasthenic syndrome, congenital, 23, presynaptic" + }, + { + "baseId": "581885", + "text": "Immunodeficiency 15a" + }, + { + "baseId": "581886|581887|581888|581889|965447", + "text": "Developmental and epileptic encephalopathy, 68" + }, + { + "baseId": "581890|581891|581892|581952|581953|581954|581955|590153|590154|590439", + "text": "Abnormal mitral valve physiology" + }, + { + "baseId": "581923|581924|581925|581927|714580", + "text": "Myasthenic syndrome, congenital, 24, presynaptic" + }, + { + "baseId": "583092|798932|798942|798943|798944|798945|798948", + "text": "Developmental and epileptic encephalopathy, 84" + }, + { + "baseId": "583102", + "text": "ELN-related disorder" + }, + { + "baseId": "583111", + "text": "ABCC8-related disorder" + }, + { + "baseId": "583171", + "text": "Polydactyly, postaxial, type A9" + }, + { + "baseId": "583171", + "text": "Postaxial polydactyly type A" + }, + { + "baseId": 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{ + "baseId": "589808|589809", + "text": "TMEM94-related condition" + }, + { + "baseId": "589808|589809|609070|609071|609074|903624", + "text": "Intellectual developmental disorder with cardiac defects and dysmorphic facies" + }, + { + "baseId": "589811", + "text": "SLC25A42-related mitochondrial encephalomyopathy" + }, + { + "baseId": "589814", + "text": "AIFM1-related hypomyelination with spondylometaphyseal dysplasia" + }, + { + "baseId": "589843", + "text": "CDK8-kinase module-associated disorder" + }, + { + "baseId": "590021|621032", + "text": "Cephalocele" + }, + { + "baseId": "590038", + "text": "Protruding tongue" + }, + { + "baseId": "590038|590082", + "text": "Severe T-cell immunodeficiency" + }, + { + "baseId": "590077|590078", + "text": "Respiratory failure requiring assisted ventilation" + }, + { + "baseId": "590082", + "text": "Aplasia of the thymus" + }, + { + "baseId": "590093", + "text": "Cortical visual impairment" + }, + { + "baseId": "590099", + "text": "Ectopic ossification" + }, + { + "baseId": "590099", + "text": "Myositis" + }, + { + "baseId": "590117", + "text": "Deafness, autosomal recessive 112" + }, + { + "baseId": "590120", + "text": "INDIAN BLOOD GROUP SYSTEM POLYMORPHISM" + }, + { + "baseId": "590363", + "text": "Spondyloepiphyseal dysplasia MIR140 type Nishimura" + }, + { + "baseId": "590363", + "text": "Spondyloepiphyseal dysplasia, nishimura type" + }, + { + "baseId": "590365|590366|590369", + "text": "Silver Russell Syndrome-related disorder" + }, + { + "baseId": "590367|920539|920540", + "text": "Chromosome 17p13.3, centromeric, duplication syndrome" + }, + { + "baseId": "590370|613930|818576|961895", + "text": "Chromosome 22q11.2 deletion syndrome, distal" + }, + { + "baseId": "590371|590372|590373|590374|590375|590376", + "text": "Central centrifugal cicatricial alopecia" + }, + { + "baseId": "590377|590378", + "text": "Granulocytopenia with immunoglobulin abnormality" + }, + { + "baseId": "590432|590433|590434|590435", + "text": "Ciliary dyskinesia, primary, 39" + }, + { + "baseId": "590456", + "text": "Orofaciodigital syndrome IX" + }, + { + "baseId": "590464|590465", + "text": "Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development" + }, + { + "baseId": "590475|590476|590477|590478|590479", + "text": "Epidermodysplasia verruciformis, susceptibility to, 3" + }, + { + "baseId": "590482|590483|841957", + "text": "Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome" + }, + { + "baseId": "590518", + "text": "Knee dislocation" + }, + { + "baseId": "590518", + "text": "Limited knee flexion/extension" + }, + { + "baseId": "590518", + "text": "Patellar hypoplasia" + }, + { + "baseId": "590545", + "text": "Interphalangeal joint contracture of finger" + }, + { + "baseId": "590545", + "text": "Increased number of skin folds" + }, + { + "baseId": "590545", + "text": "Emphysema" + }, + { + "baseId": "590563", + "text": "ACTL6B-related neurodevelopmental 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"590716|590717|590718|966718|966719", + "text": "Aplasia/Hypoplasia of the cerebellum" + }, + { + "baseId": "590716", + "text": "Motor polyneuropathy" + }, + { + "baseId": "590737|590740", + "text": "PISD-related mitochondrial disease" + }, + { + "baseId": "590737|590740|682217|861683", + "text": "Liberfarb syndrome" + }, + { + "baseId": "590738|590739", + "text": "Polydactyly, postaxial, type a10" + }, + { + "baseId": "590738|590739", + "text": "Autosomal recessive nonsyndromic postaxial polydactyly" + }, + { + "baseId": "590745", + "text": "Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum" + }, + { + "baseId": "590746", + "text": "Visual impairment and progressive phthisis bulbi" + }, + { + "baseId": "590747|590748|590749|590750|590751", + "text": "Hyper-IgE recurrent infection syndrome 3, autosomal recessive" + }, + { + "baseId": "590769|590770|590771|965893", + "text": "Wolf-Hirschhorn like syndrome" + }, + { + "baseId": "590869|619908|619909", + "text": "OCULOSKELETODENTAL SYNDROME" + }, + { + "baseId": "590985|590986", + "text": "Situs inversus" + }, + { + "baseId": "608807|608811|608812", + "text": "Microphthalmia-ankyloblepharon-intellectual disability syndrome" + }, + { + "baseId": "608837|976708", + "text": "Intellectual developmental disorder, autosomal recessive 67" + }, + { + "baseId": "608839|966682", + "text": "Infantile fibrosarcoma" + }, + { + "baseId": "608841", + "text": "Renal transitional cell carcinoma" + }, + { + "baseId": "608854", + "text": "Mucocutaneous ulceration, chronic" + }, + { + "baseId": "608857|608858|608859|970820", + "text": "Developmental and epileptic encephalopathy, 70" + }, + { + "baseId": "608866|972744|972745|972755", + "text": "Kilquist syndrome" + }, + { + "baseId": "608875", + "text": "Trigonocephaly-short stature-developmental delay syndrome" + }, + { + "baseId": "608922", + "text": "Pervasive developmental disorder" + }, + { + "baseId": "608930|608931", + "text": "Deficiency of carnitine acetyltransferase" + }, + { + "baseId": "608933|625993|625994|625996|625997|625998|916979|970521|970842", + "text": "O'Donnell-Luria-Rodan syndrome" + }, + { + "baseId": "608999|609000|609001|971114", + "text": "Intellectual developmental disorder, autosomal recessive 68" + }, + { + "baseId": "609006", + "text": "Autosomal dominant omodysplasia" + }, + { + "baseId": "609007", + "text": "Epidermodysplasia verruciformis, susceptibility to, 4" + }, + { + "baseId": "609020|676979|676980|676981|676982|964232|964819", + "text": "Developmental and epileptic encephalopathy, 78" + }, + { + "baseId": "609026", + "text": "Mitochondrial hepato-encephalopathy" + }, + { + "baseId": "609034", + "text": "myoglobinopathy" + }, + { + "baseId": "609036|609079", + "text": "Hyperostosis" + }, + { + "baseId": "609044|609045|609046|610696|918545|920124|980298", + "text": "Hypomagnesemia, seizures, and mental retardation 2" + }, + { + "baseId": "609068", + "text": "Diamond-Blackfan anemia 20" + }, + { + "baseId": "609069", + "text": "Diamond-Blackfan anemia 18" + }, + { + "baseId": "609075", + "text": "Diamond-Blackfan anemia 19" + }, + { + "baseId": "609078", + "text": "nonsyndromic sensorineural hearing loss" + }, + { + "baseId": "609092|609093|609094|609095|609096|609097|609098|609099|609100|679909|679910|679911|679912|679913|679914|679915|679916|679917|679918|679919|679920|679921|679922|679923|679924|679925", + "text": "Basal ganglia calcification, idiopathic, 7, autosomal recessive" + }, + { + "baseId": "609141|609142|858296|858300", + "text": "Spermatogenesis maturation arrest" + }, + { + "baseId": "609143", + "text": "Abnormal morphology of left ventricular trabeculae" + }, + { + "baseId": "609143", + "text": "Atrial flutter" + }, + { + "baseId": "609143", + "text": "Tachycardia" + }, + { + "baseId": "609149|918533", + "text": "Glioma" + }, + { + "baseId": "609153|609154|609155|609156|609157|966184", + "text": "Encephalopathy, 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}, + { + "baseId": "610414", + "text": "IMMUNODEFICIENCY 33, MALE-RESTRICTED" + }, + { + "baseId": "610429", + "text": "ROSAH syndrome" + }, + { + "baseId": "610429", + "text": "Splenomegaly, cytopenia, and vision loss" + }, + { + "baseId": "610431|610432|610433", + "text": "Congenital disorder of glycosylation with defective fucosylation 2" + }, + { + "baseId": "610478", + "text": "Weakened expression of D antigen" + }, + { + "baseId": "610501", + "text": "Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development" + }, + { + "baseId": "610512|610513|962971|962972", + "text": "Spermatogenic failure 35" + }, + { + "baseId": "610530|610531", + "text": "Aganglionosis, total intestinal" + }, + { + "baseId": "610586", + "text": "Primary progressive non fluent aphasia" + }, + { + "baseId": "610586|858706|858714", + "text": "Corticobasal syndrome" + }, + { + "baseId": "610591", + "text": "Abnormality of the outer ear" + }, + { + "baseId": "610591|613436", 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"Galloway-Mowat syndrome" + }, + { + "baseId": "611004", + "text": "HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS" + }, + { + "baseId": "611341", + "text": "Galloway-Mowat syndrome 8" + }, + { + "baseId": "611366", + "text": "Episodic coma" + }, + { + "baseId": "611406|789352|789353|789355", + "text": "Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures" + }, + { + "baseId": "611606", + "text": "NAA15-related syndrome" + }, + { + "baseId": "611868|798966|798967|798969|798970|919758|964052|983558|983801", + "text": "Intellectual developmental disorder 61" + }, + { + "baseId": "611973", + "text": "Androgen deprivation therapy response" + }, + { + "baseId": "611998", + "text": "Undifferentiated pleomorphic sarcoma" + }, + { + "baseId": "612012", + "text": "Mixed Phenotype Acute Leukemia with t(v" + }, + { + "baseId": "612021", + "text": "Glioblastoma multiforme" + }, + { + "baseId": "612041|612042|612043|964715|964716", + "text": "Neurodevelopmental disorder with central and peripheral motor dysfunction" + }, + { + "baseId": "612044|612045|612046|612047|612048", + "text": "Cone-rod dystrophy and hearing loss 2" + }, + { + "baseId": "612105", + "text": "Hereditary renal cancer" + }, + { + "baseId": "612121|612200", + "text": "FLNA related lung disease" + }, + { + "baseId": "612202|855079|855080", + "text": "Holoprosencephaly 13, x-linked" + }, + { + "baseId": "612210|612211|612212|612213|612214|798658|919458|919459|920319|964395|965739|967279|975867", + "text": "Coffin-Siris syndrome 8" + }, + { + "baseId": "612215|612216|612217|612218|612219", + "text": "Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis" + }, + { + "baseId": "612222|612226|612227|612229|612230|861582|972797", + "text": "Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities" + }, + { + "baseId": "612462", + "text": "Myoclonus, familial, 2" 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"Abnormality of the urinary system" + }, + { + "baseId": "613528|613529", + "text": "Intellectual developmental disorder, autosomal recessive 69" + }, + { + "baseId": "613534|801191|801221", + "text": "Abnormality of metabolism/homeostasis" + }, + { + "baseId": "613536|613536|613537|613537", + "text": "Sparse hair" + }, + { + "baseId": "613552", + "text": "Male infertility due to obstructive azoospermia" + }, + { + "baseId": "613613", + "text": "MYO16-associated developmental delay" + }, + { + "baseId": "613730|613731|613732|682209|682210", + "text": "Amelogenesis imperfecta, type 3c" + }, + { + "baseId": "613733|613734|613735", + "text": "Mental retardation, short stature, facial anomalies, and joint dislocations" + }, + { + "baseId": "613738|613739|613740", + "text": "Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate" + }, + { + "baseId": "613762|613763|800922|964877|964878", + "text": "Spondyloepiphyseal dysplasia, kondo-fu type" + }, + { + "baseId": 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macular degeneration 13" + }, + { + "baseId": "614310|614524", + "text": "Thromboxane synthetase deficiency" + }, + { + "baseId": "614505", + "text": "Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema" + }, + { + "baseId": "614518", + "text": "Immunodeficiency 61" + }, + { + "baseId": "614546|614547|614548", + "text": "Subcutaneous panniculitis-like T-cell lymphoma" + }, + { + "baseId": "614569|614570", + "text": "Intellectual developmental disorder, autosomal recessive 70" + }, + { + "baseId": "614619", + "text": "Deletion of long arm of chromosome 18" + }, + { + "baseId": "614654|614655", + "text": "Deafness, autosomal recessive 113" + }, + { + "baseId": "614666|614667|614668", + "text": "Global developmental delay, progressive ataxia, and elevated glutamine" + }, + { + "baseId": "615238", + "text": "Preaxial hand polydactyly" + }, + { + "baseId": "615270|615271|615272", + "text": "Cataract 48" + }, + { + "baseId": "615421", + "text": "Pulmonary embolism (disease)" + }, + { + "baseId": "615445|615446|615447|615448", + "text": "Prolonged prothrombin time" + }, + { + "baseId": "615447|620402", + "text": "F2-Related Disorders" + }, + { + "baseId": "615449|615450|615451|615452|615453|615454|615575|615585|615592|615605|615728|615729|615730|615754|615755", + "text": "Abnormal platelet aggregation" + }, + { + "baseId": "615606|615607", + "text": "Impaired thromboxane A2 agonist-induced platelet aggregation" + }, + { + "baseId": "615652", + "text": "Thrombotic stroke" + }, + { + "baseId": "615768|615769", + "text": "Congenital myopathy with reduced type 2 muscle fibers" + }, + { + "baseId": "615778|615779|615780", + "text": "Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy" + }, + { + "baseId": "615778|615779|615780", + "text": "Spermatogenic failure 36" + }, + { + "baseId": "615877", + "text": "Deafness, autosomal recessive 100" + }, + { + "baseId": "615897|615898|615899|615900|615902|798497", + "text": "Neurodevelopmental disorder with impaired speech and hyperkinetic movements" + }, + { + "baseId": "615906|615907|615908|615909|615910|615911|677048|677049|815990|920546", + "text": "Spastic paraplegia 80, autosomal dominant" + }, + { + "baseId": "615926|615927|615928|615929|615930", + "text": "Spermatogenic failure 37" + }, + { + "baseId": "615931|615932|615933", + "text": "Hydatidiform mole, recurrent, 3" + }, + { + "baseId": "615980|615981", + "text": "Hydatidiform mole, recurrent, 4" + }, + { + "baseId": "615987|615988|615989|615990|615991", + "text": "X-linked intellectual disability, Van Esch type" + }, + { + "baseId": "615987|615988|615989|615990|615991|798812", + "text": "VAN ESCH-O''''DRISCOLL SYNDROME" + }, + { + "baseId": "616002|616003|616004", + "text": "9q34 microduplication syndrome" + }, + { + "baseId": "616822|967178", + "text": "Arrhythmogenic right ventricular dysplasia, type 5" + }, + { + "baseId": "619849|805141|964745", + "text": "Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies" + }, + { + "baseId": "619918|620007|620725", + "text": "PCSK9-Related Disorders" + }, + { + "baseId": "619922|620310", + "text": "C8orf37-Related Disorders" + }, + { + "baseId": "619944|620702", + "text": "COL11A1-Related Disorders" + }, + { + "baseId": "619958", + "text": "MPZ-Related Disorders" + }, + { + "baseId": "619990|620714", + "text": "HSPG2-Related Disorders" + }, + { + "baseId": "619991", + "text": "RAB3GAP2-Related Disorders" + }, + { + "baseId": "619996", + "text": "FH-Related Disorders" + }, + { + "baseId": "620011", + "text": "PGM1-Related Disorders" + }, + { + "baseId": "620012|620726", + "text": "LEPR-Related Disorders" + }, + { + "baseId": "620014|620015", + "text": "NEXN-Related Disorders" + }, + { + "baseId": "620035", + "text": "CACNB4-Related Disorders" + }, + { + "baseId": "620076", + "text": "POMC-Related Disorders" + }, + { + "baseId": "620089", + "text": "FSHR-Related Disorders" + }, + { 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"Congenital scoliosis" + }, + { + "baseId": "646406", + "text": "SCN4A-Related Disorders" + }, + { + "baseId": "653800|653801", + "text": "ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6" + }, + { + "baseId": "653802", + "text": "Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features" + }, + { + "baseId": "653816", + "text": "Deafness, autosomal dominant 37" + }, + { + "baseId": "653817", + "text": "Ectodermal dysplasia 15, hypohidrotic/hair type" + }, + { + "baseId": "653823|798961|798962|798963|798965", + "text": "Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements" + }, + { + "baseId": "653824", + "text": "Dabrafenib response" + }, + { + "baseId": "653834|653835|653836|653837|653838|971013", + "text": "Immunodeficiency 64" + }, + { + "baseId": "653884", + "text": "Scrotal hypoplasia" + }, + { + "baseId": "653968", + "text": "Brain dopamine-serotonin vesicular transport disease" + }, + { + "baseId": 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{ + "baseId": "672102", + "text": "CLTC-Related Disorder" + }, + { + "baseId": "672104", + "text": "TLK2-Related Disorder" + }, + { + "baseId": "672108|961344", + "text": "CACNA1A-Related Disorder" + }, + { + "baseId": "672109", + "text": "Hemiplegia-hemiconvulsion-epilepsy syndrome" + }, + { + "baseId": "672113", + "text": "PPP2R1A-related disorder" + }, + { + "baseId": "672116", + "text": "Mercaptolactate-cysteine disulfiduria" + }, + { + "baseId": "672121", + "text": "BRWD3-Related Disorder" + }, + { + "baseId": "672133|961404", + "text": "Rubinstein-Taybi syndrome due to 16p13.3 microdeletion" + }, + { + "baseId": "672148", + "text": "Chromosome Xp21 deletion syndrome" + }, + { + "baseId": "672236|672237|672238", + "text": "Diencephalic-mesencephalic junction dysplasia syndrome" + }, + { + "baseId": "672236|965274", + "text": "Diencephalic-mesencephalic junction dysplasia" + }, + { + "baseId": "672259|672260|672261|672262", + "text": "Nephrotic syndrome, type 21" + }, + { + "baseId": "672283|672284|672285|672286|672287|672288|672289|672290|672291|672292|672293", + "text": "Renal agenesis and hypodysplasia" + }, + { + "baseId": "672318", + "text": "Radioulnar synostosis-microcephaly-scoliosis syndrome" + }, + { + "baseId": "672320", + "text": "Cerebellar medulloblastoma" + }, + { + "baseId": "672358", + "text": "Carpal osteolysis" + }, + { + "baseId": "676913", + "text": "Interstitial cardiac fibrosis" + }, + { + "baseId": "676955|676971|905977|971561", + "text": "Intellectual developmental disorder, autosomal recessive 72" + }, + { + "baseId": "676983|676984|676985|789780", + "text": "Developmental and epileptic encephalopathy, 79" + }, + { + "baseId": "676986", + "text": "Mitochondrial DNA depletion syndrome 17" + }, + { + "baseId": "676989|676990|676991", + "text": "Trichothiodystrophy 7, nonphotosensitive" + }, + { + "baseId": "677012", + "text": "Hepatitis, fulminant viral, susceptibility to" + }, + { + "baseId": "677013|677014|677015|677016", + "text": "Oocyte maturation defect 7" + }, + { + "baseId": "677025|677026|677027|677028|796901|815998|964401", + "text": "Microangiopathy and leukoencephalopathy, pontine, autosomal dominant" + }, + { + "baseId": "677052|677053|677054", + "text": "LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE" + }, + { + "baseId": "677070|983529|983531|983532|983533", + "text": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES" + }, + { + "baseId": "677115|677117|677119", + "text": "Megabladder, congenital" + }, + { + "baseId": "677184|677185|677186|677186|677187|861612|861613", + "text": "Myopathy, congenital, progressive, with scoliosis" + }, + { + "baseId": "677198|677199|677200|677201|677202|677203|919087", + "text": "Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies" + }, + { + "baseId": "677204|677205", + "text": "Neurodevelopmental disorder with cerebellar hypoplasia and spasticity" + }, + { + "baseId": "677225|677253", + "text": "Abnormality of connective tissue" + }, + { + "baseId": "677230", + "text": "Absent radius" + }, + { + "baseId": "677232", + "text": "Distal amyotrophy" + }, + { + "baseId": "677242", + "text": "Male pseudohermaphroditism" + }, + { + "baseId": "677336", + "text": "NUDT2-associated condition" + }, + { + "baseId": "677337", + "text": "PRNP-associated condition" + }, + { + "baseId": "677400", + "text": "Intellectual developmental disorder 60 with seizures" + }, + { + "baseId": "677401|677402", + "text": "Glycosylphosphatidylinositol biosynthesis defect 21" + }, + { + "baseId": "677478|677479|677480|792532|802101|802102", + "text": "Spondyloepimetaphyseal dysplasia, Isidor-Toutain type" + }, + { + "baseId": "677482", + "text": "LMNA-associated condition" + }, + { + "baseId": "678055", + "text": "Areflexia" + }, + { + "baseId": "678055", + "text": "Stereotypical hand wringing" + }, + { + "baseId": "678055|679241|679242|679243|679245|679247", + "text": "Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia" + }, + { + "baseId": "678084", + "text": "Congenitally corrected transposition of the great arteries" + }, + { + "baseId": "678949|861048", + "text": "Postaxial polydactyly" + }, + { + "baseId": "678964|678965|678966|678967", + "text": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82" + }, + { + "baseId": "678971", + "text": "SHORT SLEEP, FAMILIAL NATURAL, 2" + }, + { + "baseId": "679174|679175|679176|679177|858510|858511", + "text": "Hypothyroidism, congenital, nongoitrous, 8" + }, + { + "baseId": "679178|679179|679180", + "text": "Hypothyroidism, congenital, nongoitrous, 9" + }, + { + "baseId": "679183|679184|679185|679186|679187|861265|861267|861268|861269|861270|861271|861272|861273|861274|861275|971091|971092", + "text": "Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities" + }, + { + "baseId": "679189|679190|679191", + "text": "Peritoneal Gliomatosis" + }, + { + "baseId": "679282|679283|679284|679285|679286|679287|798479|964807|972529", + "text": "Snijders blok-fisher syndrome" + }, + { + "baseId": "679288|679289|679290", + "text": "Pontocerebellar hypoplasia, type 13" + }, + { + "baseId": "679293", + "text": "Chromosome 8p11 myeloproliferative syndrome" + }, + { + "baseId": "679317|679318", + "text": "Retinitis pigmentosa 86" + }, + { + "baseId": "679319|679320", + "text": "Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies" + }, + { + "baseId": "679356|679357|679358|679359", + "text": "Mitochondrial complex 1 deficiency, nuclear type 34" + }, + { + "baseId": "679483|794110", + "text": "Frequent falls" + }, + { + "baseId": "679509|679510|679511|679512|679513", + "text": "Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation" + }, + { + "baseId": "679565|679566|679567|679568|679569", + "text": "Early Onset Neurological Disease Trait" + }, + { + "baseId": "679571", + "text": "Spastic Paraplegia 2, mild, late onset" + }, + { + "baseId": "679574|679575|679576|679577", + "text": "Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures" + }, + { + "baseId": "679578", + "text": "Imatinib response" + }, + { + "baseId": "679582", + "text": "Neuronal intranuclear inclusion disease" + }, + { + "baseId": "679582", + "text": "Tremor, hereditary essential, 6" + }, + { + "baseId": "679672|679678", + "text": "Reduced renal corticomedullary differentiation" + }, + { + "baseId": "679672|679673|679674|679675", + "text": "Neuromuscular disease and ocular or auditory anomalies with or without seizures" + }, + { + "baseId": "679698|679699|679700|679701|679702|679703|679704|679705", + "text": "Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus" + }, + { + "baseId": "679714|679715|679716|679717|679718|679719|858504|858505|858506|858507", + "text": "Neurodevelopmental 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"679958|679959", + "text": "SeSAME-like syndrome" + }, + { + "baseId": "679961", + "text": "Oculopharyngeal myopathy with leukoencephalopathy 1" + }, + { + "baseId": "680033|680034|680035|680036", + "text": "Siddiqi syndrome" + }, + { + "baseId": "680037", + "text": "Oculopharyngodistal myopathy" + }, + { + "baseId": "680074|680075|680076|680077", + "text": "Osteogenesis imperfecta, type 20" + }, + { + "baseId": "680078|680079|680080", + "text": "SPERMATOGENIC FAILURE 39" + }, + { + "baseId": "681333", + "text": "Decreased activity of mitochondrial complex IV" + }, + { + "baseId": "681600|794276", + "text": "Abnormal basal ganglia MRI signal intensity" + }, + { + "baseId": "681600|794276", + "text": "Gonadal dysgenesis" + }, + { + "baseId": "681802|822326|822327|822328|822329|822330", + "text": "Myopia 2, autosomal dominant" + }, + { + "baseId": "681863|681864", + "text": "Immunodeficiency 65, susceptibility to viral infections" + }, + { + "baseId": "681868|681869", + "text": "Diencephalic-mesencephalic junction dysplasia syndrome 2" + }, + { + "baseId": "681873", + "text": "Epidermodysplasia verruciformis, susceptibility to, 5" + }, + { + "baseId": "682095|961553", + "text": "TAF1-related syndromic intellectual disability" + }, + { + "baseId": "682119", + "text": "Cholestasis, progressive familial intrahepatic, (PFIC4-like)" + }, + { + "baseId": "682119|682409|682410|682411|682412|682413|682414|682415|682416|682417|792798", + "text": "Cholestasis" + }, + { + "baseId": "682122|682123", + "text": "Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15" + }, + { + "baseId": "682171", + "text": "Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies" + }, + { + "baseId": "682239|682240", + "text": "Myopathy, congenital, with structured cores and z-line abnormalities" + }, + { + "baseId": "682241|682242|970681", + "text": "Myopathy, distal, 6, adult-onset, 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"682397|682398|682399|682400|682401|682402|682403|682404|682405|682406|682407|682408", + "text": "CDC42BPB-related neurodevelopmental syndrome" + }, + { + "baseId": "682426", + "text": "Motor and sensory neuropathy" + }, + { + "baseId": "682488", + "text": "Delayed myelination" + }, + { + "baseId": "682490", + "text": "Epilepsy, familial adult myoclonic, 4" + }, + { + "baseId": "682509|800951", + "text": "Oocyte maturation defect" + }, + { + "baseId": "682585|682586|682587|682656", + "text": "Spermatogenic failure 40" + }, + { + "baseId": "682657", + "text": "Spermatogenic failure 41" + }, + { + "baseId": "682667|682668", + "text": "Hydrocephalus, congenital communicating, 1" + }, + { + "baseId": "682724|682725|682726|682727", + "text": "Cortical dysplasia, complex, with other brain malformations 10" + }, + { + "baseId": "682749", + "text": "Hydronephrosis" + }, + { + "baseId": "682782", + "text": "Lessel-kubisch syndrome" + }, + { + "baseId": "682783", + "text": "Pancreatic cancer, 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ANOMALIES, SOMATIC MOSAIC" + }, + { + "baseId": "683186", + "text": "neuro-ectodermal phenotype" + }, + { + "baseId": "683225|683226", + "text": "Intellectual developmental disorder with short stature and behavioral abnormalities" + }, + { + "baseId": "683832", + "text": "Hereditary hemochromatosis type 5" + }, + { + "baseId": "711182|816412", + "text": "Zellweger Spectrum Disorder" + }, + { + "baseId": "714726", + "text": "Hyperaldosteronism" + }, + { + "baseId": "716121|789347", + "text": "Recurrent skin infections" + }, + { + "baseId": "724728|966721", + "text": "Rudimentary fibula" + }, + { + "baseId": "734506|828921", + "text": "Glutaric acidemia type 2C" + }, + { + "baseId": "761008", + "text": "Retinitis pigmentosa 87 with choroidal involvement" + }, + { + "baseId": "788384|788385|788386|788387", + "text": "Ciliary dyskinesia, primary, 43" + }, + { + "baseId": "788765", + "text": "COL7A1-related disorders" + }, + { + "baseId": "788809", + "text": "MAP3K7-related disorder" + }, + { + "baseId": "788814", + "text": "TWIST1-related disorder" + }, + { + "baseId": "788817", + "text": "GLI3-related postaxial polydactyly" + }, + { + "baseId": "788850|789376", + "text": "Autosomal dominant KCNQ1-related disease" + }, + { + "baseId": "788866", + "text": "COL2A1-related phenotype" + }, + { + "baseId": "788879", + "text": "Autosomal dominant MYH7-related disorder" + }, + { + "baseId": "788924|880183|880185|880192", + "text": "COMP-related disorders" + }, + { + "baseId": "788977", + "text": "Primary pulmonary hypoplasia" + }, + { + "baseId": "789156", + "text": "Short stature and microcephaly with genital anomalies" + }, + { + "baseId": "789161|789162|789163|789164|789165|970494", + "text": "Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures" + }, + { + "baseId": "789246|969242", + "text": "Dysfibrinogenemia, congenital" + }, + { + "baseId": "789258", + "text": "Multifocal seizures" + }, + { + "baseId": "789314", + "text": "Premature ovarian failure 16" + }, + { + "baseId": "789341|789342|789343", + "text": "White matter deficit" + }, + { + "baseId": "789384", + "text": "CNTNAP1-related disease" + }, + { + "baseId": "789388", + "text": "INSR-related disorder" + }, + { + "baseId": "789713|789714", + "text": "Heyn-Sproul-Jackson syndrome" + }, + { + "baseId": "789781|789782|794170|969301", + "text": "Webb-Dattani syndrome" + }, + { + "baseId": "791856", + "text": "Hereditary amyloidosis" + }, + { + "baseId": "792538|792539|792540|792541|792542|792543|792544|792545|792546|792547|792548|792549|792550|792551|792552|792553|792554|792559|792560|792561|792562", + "text": "Cystine urolithiasis" + }, + { + "baseId": "792563|792564|792565", + "text": "Zimmermann-laband syndrome 3" + }, + { + "baseId": "792590", + "text": "ATP6AP1-related disorders" + }, + { + "baseId": "792596|792597", + "text": "EIF2AK2-related condition" + }, + { + "baseId": "792596|792597|801518|801519|806288|806406|861117|861118", + "text": "Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome" + }, + { + "baseId": "792599", + "text": "DROSHA-related neurodevelopmental disorder" + }, + { + "baseId": "792600", + "text": "ADGRV1-related myoclonic epilepsy" + }, + { + "baseId": "792603", + "text": "KMT2C-related condition" + }, + { + "baseId": "792604", + "text": "EIF2AK1-related condition" + }, + { + "baseId": "792604", + "text": "Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome" + }, + { + "baseId": "792610", + "text": "CDH2-related condition" + }, + { + "baseId": "792610|794093|794094|794095|794096|794097|794098|794099|794100", + "text": "Axon pathfinding, cardiac, ocular and genital defects" + }, + { + "baseId": "792610|794093|794094|794098|794099|918173|918174", + "text": "Agenesis of corpus callosum, cardiac, ocular, and genital syndrome" + }, + { + "baseId": "792610|794093|794094|794095|794099|794100", + "text": "Syndromic neurodevelopmental disorder" + }, + { + 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"baseId": "794204", + "text": "Immunodeficiency with T and B cell lymphopenia" + }, + { + "baseId": "794265|794266|794267|794268", + "text": "Progeroid mandibuloacral dysplasia" + }, + { + "baseId": "794265|794266|794267|794268|815876", + "text": "MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME" + }, + { + "baseId": "794292|794293|794294|794295|794296|794297", + "text": "Spermatogenic failure 42" + }, + { + "baseId": "794316", + "text": "Developmental and epileptic encephalopathy, 83" + }, + { + "baseId": "794317|794318|794319|794320|794321|970981|983847", + "text": "Intellectual developmental disorder with hypotonia and behavioral abnormalities" + }, + { + "baseId": "794322|794323|794324|794325|794326|794327|794328", + "text": "Spermatogenic failure 43" + }, + { + "baseId": "794329", + "text": "Normal pressure hydrocephalus" + }, + { + "baseId": "794347", + "text": "Refractory epilepsy with Lennox Gastaut syndrome" + }, + { + "baseId": "794350", + "text": "Non-lesional parietal lobe epilepsy" + }, + { + "baseId": "794353", + "text": "Periventricular nodular heterotopia and epilepsy" + }, + { + "baseId": "794668|971332|971333|971334|971335|971336", + "text": "Spectraplakinopathy type I" + }, + { + "baseId": "796238|804900|906327|906328|906329|906330|906331", + "text": "Sandestig-stefanova syndrome" + }, + { + "baseId": "798695", + "text": "Glomerulocystic kidney disease with hyperuricemia and isosthenuria" + }, + { + "baseId": "798949", + "text": "Catifa syndrome" + }, + { + "baseId": "798950|798951", + "text": "Endometriosis" + }, + { + "baseId": "798954", + "text": "Acute myeloid leukemia with multilineage dysplasia" + }, + { + "baseId": "798959", + "text": "13q12.3 microdeletion" + }, + { + "baseId": "799078|799079", + "text": "Joubert syndrome 36" + }, + { + "baseId": "799091|799092", + "text": "Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum" + }, + { + "baseId": "799559", + "text": "Mitochondrial complex III deficiency, nuclear type 3" + }, + { + "baseId": "800028", + "text": "Acetyl-CoA: carboxylase deficiency" + }, + { + "baseId": "800185", + "text": "Major affective disorder 7" + }, + { + "baseId": "800331", + "text": "Discoid lupus rash" + }, + { + "baseId": "800332|858623|858624|858625|858626|858627", + "text": "Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities" + }, + { + "baseId": "800342|800343", + "text": "SPERMATOGENIC FAILURE 51" + }, + { + "baseId": "800545|800546|800547|800548|800549|800550|800551|800552", + "text": "cone dystrophy with supernormal rod electroretinogram" + }, + { + "baseId": "800595|800596|965597|965598|965599|965600|965601|965602|965603", + "text": "Retinitis pigmentosa 90" + }, + { + "baseId": "800670", + "text": "15q22.2 deletion syndrome" + }, + { + "baseId": "800692", + "text": "Refsum syndrome" + }, + { + "baseId": "800757", + "text": "Lymphatic malformation 8" + }, + { + "baseId": "800758|800759", + "text": "Deafness, autosomal dominant 7" + }, + { + "baseId": "800761", + "text": "Sirenomelia" + }, + { + "baseId": "800787", + "text": "Microcephaly-complex motor and sensory axonal neuropathy syndrome" + }, + { + "baseId": "800788", + "text": "Polyarticular arthritis" + }, + { + "baseId": "800819|800820|800821", + "text": "Spastic paraplegia 82, autosomal recessive" + }, + { + "baseId": "800822|800823", + "text": "Spastic paraplegia 81, autosomal recessive" + }, + { + "baseId": "800862|800863|800864|800865|800866", + "text": "Congenital heart defects, multiple types, 7" + }, + { + "baseId": "800899|962163", + "text": "Deafness, autosomal dominant 75" + }, + { + "baseId": "800927|800929", + "text": "Long QT syndrome 16" + }, + { + "baseId": "800928", + "text": "VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 6" + }, + { + "baseId": "800930|800931|800932|800933|800934", + "text": "Coffin-Siris syndrome 11" + }, + { + "baseId": "800939", + "text": "Dizygotic twins" + }, + { + "baseId": "800950", + "text": "Preimplantation embryonic lethality" + }, + { + "baseId": "800982", + "text": "Reticulocytopenia" + }, + { + "baseId": "800989", + "text": "Hypsarrhythmia" + }, + { + "baseId": "800989", + "text": "Peripheral edema" + }, + { + "baseId": "801106", + "text": "Minimal change glomerulonephritis" + }, + { + "baseId": "801116", + "text": "Abnormal dense granule content" + }, + { + "baseId": "801116", + "text": "Abnormal dense granules" + }, + { + "baseId": "801122", + "text": "Abnormality of the heme biosynthetic pathway" + }, + { + "baseId": "801164", + "text": "Toe walking" + }, + { + "baseId": "801186", + "text": "Progressive psychomotor deterioration" + }, + { + "baseId": "801195|801506", + "text": "Mesangiocapillary glomerulonephritis" + }, + { + "baseId": "801221", + "text": "Central core regions in muscle fibers" + }, + { + "baseId": "801221", + "text": "Abnormality of the respiratory system" + }, + { + "baseId": "801224", + "text": "Abnormal synaptic transmission" + }, + { + "baseId": "801228", + "text": "Basal ganglia calcification" + }, + { + "baseId": "801230", + "text": "SPTA1-related disorders" + }, + { + "baseId": "801247", + "text": "Pure red cell aplasia" + }, + { + "baseId": "801254", + "text": "Paris-Trousseau thrombocytopenia" + }, + { + "baseId": "801392|801393|801442", + "text": "Choroidal dystrophy central areolar" + }, + { + "baseId": "801504|806289", + "text": "global hypotonia" + }, + { + "baseId": "801521", + "text": "Deletion syndrome" + }, + { + "baseId": "801523|801524|801525|801526", + "text": "Ciliary dyskinesia, primary, 44" + }, + { + "baseId": "801542|801543", + "text": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36" + }, + { + "baseId": "802069", + "text": "Dominant progressive sensorineural hearing loss" + }, + { + "baseId": "802075", + "text": "Dominant congenital non-syndromic sensorineural hearing loss" + }, + { + "baseId": "802081", + "text": "Dominant congenital profound hearing loss" + }, + { 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"818575|969300", + "text": "5q35 microduplication syndrome" + }, + { + "baseId": "818586|818587|818588|818589|818590|818591", + "text": "Neuromyopathy" + }, + { + "baseId": "818634", + "text": "Hypotrichosis 5" + }, + { + "baseId": "818712", + "text": "Chromosome 4q21 deletion syndrome" + }, + { + "baseId": "818727|818728", + "text": "Neurodevelopmental disorder with microcephaly and dysmorphic facies" + }, + { + "baseId": "818729|818730|818731|818732", + "text": "Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies" + }, + { + "baseId": "818730", + "text": "SPOP-related condition" + }, + { + "baseId": "818742", + "text": "Profound hearing impairment" + }, + { + "baseId": "818765|818766", + "text": "Isolated hand syndactyly" + }, + { + "baseId": "822314", + "text": "Mitochondrial complex 4 deficiency, nuclear type 16" + }, + { + "baseId": "822320|822321|822322", + "text": "Hypogonadotropic hypogonadism 25 with anosmia" + }, + { + "baseId": "822340|822341|822342|822343|919645|919646|920360|962177|964874", + "text": "Epilepsy, early-onset, with or without developmental delay" + }, + { + "baseId": "822665|858242|858244", + "text": "Al-Gazali syndrome" + }, + { + "baseId": "836396", + "text": "PTCH1-related disorders" + }, + { + "baseId": "850071|959307|969739", + "text": "VEXAS" + }, + { + "baseId": "850071|959307|969739", + "text": "VEXAS syndrome" + }, + { + "baseId": "853050", + "text": "N-FORMYLPEPTIDE RECEPTOR POLYMORPHISM" + }, + { + "baseId": "853053|853054|853055|853056", + "text": "Vertebral, cardiac, renal, and limb defects syndrome 3" + }, + { + "baseId": "855097|855098|855099|855100|855101|962148|964820", + "text": "Diets-Jongmans syndrome" + }, + { + "baseId": "857371", + "text": "Immunodeficiency 66" + }, + { + "baseId": "857373|857374|857375", + "text": "Antisynthetase syndrome" + }, + { + "baseId": "857396", + "text": "Increased serum lactate" + }, + { + "baseId": "857396", + "text": "Acidosis" + }, + { + "baseId": "857398|857399", + "text": "Hypervalinemia and hyperleucine-isoleucinemia" + }, + { + "baseId": "857400|857401|857402", + "text": "Muscular dystrophy, limb-girdle, autosomal recessive 26" + }, + { + "baseId": "857611|857628", + "text": "Decreased activity of mitochondrial complex III" + }, + { + "baseId": "857626", + "text": "neonatal lactic acidosis" + }, + { + "baseId": "857631", + "text": "Eosinophilia" + }, + { + "baseId": "857633", + "text": "Bone marrow failure syndrome 6" + }, + { + "baseId": "857634|857635|857636|857637|857638", + "text": "Testicular regression syndrome" + }, + { + "baseId": "857996|857997", + "text": "Anauxetic dysplasia 3" + }, + { + "baseId": "858218|858219", + "text": "Combined oxidative phosphorylation deficiency 43" + }, + { + "baseId": "858248", + "text": "Right ventricular dilatation" + }, + { + "baseId": "858248", + "text": "Left ventricular failure" + }, + { + "baseId": "858288", + "text": "Cole-Carpenter syndrome" + }, + { + "baseId": "858291", + "text": "Bruck syndrome" + }, + { + "baseId": "858297|905812", + "text": "Abnormal spermatogenesis" + }, + { + "baseId": "858301|858302|858303", + "text": "Chronic obstructive pulmonary disease, biomass related" + }, + { + "baseId": "858390|858391|858392|858393", + "text": "Autoinflammation with episodic fever and lymphadenopathy" + }, + { + "baseId": "858513", + "text": "Bilateral multifocal epileptiform discharges" + }, + { + "baseId": "858548", + "text": "PPP1R21-related neurodevelopmental disorder" + }, + { + "baseId": "858553", + "text": "PTPN23-related neurodevelopmental disorder" + }, + { + "baseId": "858555", + "text": "GRIK2-related neurodevelopmental disorder" + }, + { + "baseId": "858581", + "text": "PIGG-related neurodevelopmental disorder" + }, + { + "baseId": "858585", + "text": "HUWE1-related neurodevelopmental disorder" + }, + { + "baseId": "858617|858618|858619|858620|858621|971156", + "text": "Neurodevelopmental disorder with hypotonia, 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neurodevelopmental disorders" + }, + { + "baseId": "861619", + "text": "CTNNB1-related syndromic intellectual disability" + }, + { + "baseId": "861620|977198", + "text": "ITPR1-related syndromic and non-syndromic hereditary ataxias" + }, + { + "baseId": "861623", + "text": "FBXW11-related neurodevelopmental, brain, eye, and digit anomalies" + }, + { + "baseId": "861624", + "text": "MEF2C-related complex neurodevelopmental disorder" + }, + { + "baseId": "861626", + "text": "SOX4-related neurodevelopmental disorder" + }, + { + "baseId": "861627|977226|977227", + "text": "KMT2C-related disorders" + }, + { + "baseId": "861630|861631", + "text": "RP1-related retinal dystrophy" + }, + { + "baseId": "861633", + "text": "VCP-related multisystem proteinopathy" + }, + { + "baseId": "861634", + "text": "CAMK2G-related syndromic intellectual disability" + }, + { + "baseId": "861635|977244", + "text": "GRIA4-related neurodevelopmental disorder" + }, + { + "baseId": "861639|961524", + "text": 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"text": "Syndrome with microcephaly as major feature" + }, + { + "baseId": "904073", + "text": "Retinitis pigmentosa 6" + }, + { + "baseId": "904231|904232|904235|904236", + "text": "Premenstrual dysphoric disorder" + }, + { + "baseId": "904258|904262", + "text": "46,xx sex reversal 5" + }, + { + "baseId": "904752", + "text": "VARIANT OF UNKNOWN SIGNIFICANCE" + }, + { + "baseId": "904965|905007", + "text": "Short telomere length" + }, + { + "baseId": "904965|905004|905007|961210|961211|961212|961213|961214|961215|961216|961217", + "text": "Interstitial pulmonary abnormality" + }, + { + "baseId": "905007", + "text": "Premature graying of hair" + }, + { + "baseId": "905007", + "text": "Macrocytic anemia" + }, + { + "baseId": "905018|905021", + "text": "ARTHROGRYPOSIS, DISTAL, TYPE 1C" + }, + { + "baseId": "905022|905023|905024|905025|905026|905027|905028", + "text": "sellar metastasis from primary bronchial carcinoid tumor" + }, + { + "baseId": 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and epileptic encephalopathy, 87" + }, + { + "baseId": "918166", + "text": "CDK19-related condition" + }, + { + "baseId": "918182|918183|918502", + "text": "OCULOCUTANEOUS ALBINISM, TYPE VIII" + }, + { + "baseId": "918184", + "text": "Left ventricular diastolic dysfunction" + }, + { + "baseId": "918257", + "text": "Autosomal recessive infantile hypercalcemia" + }, + { + "baseId": "918408", + "text": "Childhood-onset autosomal recessive myopathy with external ophthalmoplegia" + }, + { + "baseId": "918499", + "text": "vanishing white matter disease" + }, + { + "baseId": "918571", + "text": "Headache" + }, + { + "baseId": "918571", + "text": "Dysphasia" + }, + { + "baseId": "918813", + "text": "SOX2-Related Disorder" + }, + { + "baseId": "920333|974551|974552|974553|974554|974556|980559|980950", + "text": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY" + }, + { + "baseId": "920547|920548|920549", + "text": "IFAP syndrome 2" + }, + { + "baseId": "920547|969581", + "text": "Hereditary mucoepithelial dysplasia" + }, + { + "baseId": "920551", + "text": "C6 A/B POLYMORPHISM" + }, + { + "baseId": "920602", + "text": "22q13.3 interstitial deletion" + }, + { + "baseId": "920612|920613|920614", + "text": "Treacher Collins syndrome 4" + }, + { + "baseId": "920615|920616", + "text": "Autosomal recessive chronic granulomatous disease 5" + }, + { + "baseId": "921239", + "text": "Limb myoclonus" + }, + { + "baseId": "921253|921255|921256", + "text": "Motor tics" + }, + { + "baseId": "921256", + "text": "Bradykinesia" + }, + { + "baseId": "934579", + "text": "ABL1-Related Disorder" + }, + { + "baseId": "952954", + "text": "Alport syndrome type 2" + }, + { + "baseId": "961063", + "text": "Retinitis pigmentosa 32" + }, + { + "baseId": "961064", + "text": "Oculopharyngodistal myopathy 2" + }, + { + "baseId": "961125", + "text": "Glycoprotein storage disease" + }, + { + "baseId": "961226|961229|961921|963436", + "text": "Motor axonal neuropathy" + }, + { + "baseId": "961260", + "text": "DNMT3A-Related Disorder" + }, + { + "baseId": "961281", + "text": "COL12A1- Related Disorder" + }, + { + "baseId": "961282", + "text": "PLOD3-Related Disorder" + }, + { + "baseId": "961300", + "text": "LRP4-Related Disorder" + }, + { + "baseId": "961302", + "text": "POLR3B-Related Disorder" + }, + { + "baseId": "961304", + "text": "DIABLO-Related Hearing Loss" + }, + { + "baseId": "961326", + "text": "TRAF7-Related Disorder" + }, + { + "baseId": "961328|961329", + "text": "CNOT1-Related Disorder" + }, + { + "baseId": "961330", + "text": "CTCF-Related Disorder" + }, + { + "baseId": "961356", + "text": "MSL3-Related Disorder" + }, + { + "baseId": "961358", + "text": "MECP2-Related Disorder" + }, + { + "baseId": "961368", + "text": "AKT3-Related Disorder" + }, + { + "baseId": "961406", + "text": "DMD-Related Disorder" + }, + { + "baseId": "961432", + "text": "Reduced tendon reflexes" + }, + { + "baseId": "961498|961499", + "text": "ATP13A2-related disorders" + }, + { + "baseId": "961503|961504", + "text": "SCN3A-related neurodevelopmental sisorder" + }, + { + "baseId": "961509", + "text": "GRIA2-related neurodevelopmental disorder" + }, + { + "baseId": "961511", + "text": "CYFIP2-related neurodevelopmental disorders" + }, + { + "baseId": "961522", + "text": "KMT5B-related neurodevelopmental disorder" + }, + { + "baseId": "961523", + "text": "PAK1-related neurodevelopmental disorders" + }, + { + "baseId": "961538", + "text": "TAOK1-related neurodevelopmental disorder" + }, + { + "baseId": "961539", + "text": "TANC2-related neurodevelopmental disorders" + }, + { + "baseId": "961540", + "text": "POLG2-related spectrum disorders" + }, + { + "baseId": "961543", + "text": "ATP1A3-related neurologic disorders" + }, + { + "baseId": "961544|977294", + "text": "CIC-related neurodevelopmental disorders" + }, + { + "baseId": "961545", + "text": "POLD1-related disorders" + }, + { + "baseId": "961549", + "text": "FLNA-related otopalatodigital spectrum disorders" + }, + { + "baseId": "961551", + "text": "USP9X-related neurodevelopmental disorder" + }, + { + "baseId": "961552", + "text": "Kabuki Syndrome - KDM6A" + }, + { + "baseId": "961556|961557", + "text": "Retinitis pigmentosa 89" + }, + { + "baseId": "961694", + "text": "typical paroxysmal kinesigenic dyskinesia" + }, + { + "baseId": "961805|966209|966210|966211|966212", + "text": "Deeah syndrome" + }, + { + "baseId": "961812|961813", + "text": "Hyper-IgE recurrent infection syndrome 5, autosomal recessive" + }, + { + "baseId": "961814", + "text": "Developmental and epileptic encephalopathy, 88" + }, + { + "baseId": "961830|961831|961832|961833|961834", + "text": "Familial intrahepatic cholestasis type 2" + }, + { + "baseId": "961853|961854", + "text": "Familial intrahepatic cholestasis type 3" + }, + { + "baseId": "961867", + "text": "Distal trisomy 11q" + }, + { + "baseId": "961875", + "text": "Immunodeficiency type 56" + }, + { + "baseId": "961896", + "text": "Polyarteritis nodosa" + }, + { + "baseId": "961899", + "text": "Turner syndrome" + }, + { + "baseId": "961906", + "text": "Aortic valve stenosis" + }, + { + "baseId": "961935", + "text": "WDR1 deficiency" + }, + { + "baseId": "961995|961996|962002", + "text": "Generalized choriocapillaris dystrophy" + }, + { + "baseId": "962057", + "text": "TRAPP-associated developmental delay" + }, + { + "baseId": "962060", + "text": "SCAF4-associated mental retardation" + }, + { + "baseId": "962070", + "text": "Late onset congenital glaucoma" + }, + { + "baseId": "962240|962241", + "text": "Chronic multifocal osteomyelitis" + }, + { + "baseId": "962268", + "text": "Combined oxidative phosphorylation deficiency 45" + }, + { + "baseId": "962273", + "text": "Combined oxidative phosphorylation deficiency 46" + }, + { + "baseId": "962274|962275", + "text": "Combined oxidative phosphorylation deficiency 47" + }, + { + "baseId": "962895|962896|962897|962898|962899|962900|962901|962902", + "text": "Lazy leukocyte syndrome" + }, + { + "baseId": "962903|962904|962905|962906|962907", + "text": "Cone-rod synaptic disorder syndrome, congenital nonprogressive" + }, + { + "baseId": "962973", + "text": "Immunodeficiency 69" + }, + { + "baseId": "962977|962978|962979", + "text": "Immunodeficiency 70" + }, + { + "baseId": "963316|963317|963318|963319", + "text": "Neurodegeneration, infantile-onset, biotin-responsive" + }, + { + "baseId": "964135", + "text": "Renal neoplasm" + }, + { + "baseId": "964259|976826", + "text": "Severe hydrops fetalis" + }, + { + "baseId": "964658", + "text": "Thrombocytosis" + }, + { + "baseId": "964711", + "text": "SMAD2-congenital heart disease and multiple congenital anomaly disorder" + }, + { + "baseId": "964726|964727|964728|964729", + "text": "Li-Ghorbani-Weisz-Hubshman syndrome" + }, + { + "baseId": "964735", + "text": "FLNC-associated cardiomyopathy" + }, + { + "baseId": "964792", + "text": "X-\u00adlinked recessive mitochondrial myopathy" + }, + { + "baseId": "964792", + "text": "Cognitive impairment and autistic features" + }, + { + "baseId": "964793", + "text": "NSD2-associated disorder" + }, + { + "baseId": "964793", + "text": "atypical Wolf-Hirschhorn syndrome" + }, + { + "baseId": "964794", + "text": "CSDE1-associated disorder" + }, + { + "baseId": "964799", + "text": "AGO1-associated disorder" + }, + { + "baseId": "964800", + "text": "MANEAL-associated disorder" + }, + { + "baseId": "964806", + "text": "AFF3-associated disorder" + }, + { + "baseId": "964808", + "text": "ATP5G3-associated disorder" + }, + { + "baseId": "964826", + "text": "HIST1H4C-associated disorder" + }, + { + "baseId": "964830", + "text": "POU3F2-associated disorder" + }, + { + "baseId": "964835", + "text": "DNAJC30-associated disorder" + }, + { + "baseId": "964836", + "text": "ERI1-associated disorder" + }, + { + "baseId": "964849", + "text": "SETD1B-associated disorder" + }, + { + "baseId": "964864|964865|964866|964867|964868|964869|964870", + "text": "SPATA5L1-associated disorder" + }, + { + "baseId": "964894", + "text": "VPS16-associated disorder" + }, + { + "baseId": "964981|964982|964983|964984", + "text": "Immunodeficiency 72 with autoinflammation" + }, + { + "baseId": "964987|984270|984271", + "text": "Syndromic congenital hemolytic and dyserythropoietic anemia" + }, + { + "baseId": "965271|980757", + "text": "Skeletal muscle atrophy" + }, + { + "baseId": "965271", + "text": "skeletal contractures" + }, + { + "baseId": "965276", + "text": "Metopic ridging-ptosis-facial dysmorphism syndrome" + }, + { + "baseId": "965340|965342|965344", + "text": "Autoimmune thrombocytopenia" + }, + { + "baseId": "965340|965344", + "text": "Autoimmune hemolytic anemia" + }, + { + "baseId": "965353", + "text": "Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia" + }, + { + "baseId": "965363|965364", + "text": "Immunodeficiency 74, covid19-related, x-linked" + }, + { + "baseId": "965405", + "text": "Adult Fanconi syndrome" + }, + { + "baseId": "965406|965407|965408", + "text": "Autosomal dominant lamellar ichthyosis" + }, + { + "baseId": "965430", + "text": "Very long chain fatty acid accumulation" + }, + { + "baseId": "965432", + "text": "Intellectual developmental disorder with autistic features and language delay, with or without seizures" + }, + { + "baseId": "965446", + "text": "Abnormal CNS myelination" + }, + { + "baseId": "965604", + "text": "Hemophagocytic lymphohistiocytosis, familial, 6" + }, + { + "baseId": "965607|965608|965609|965610|965611|965643|965644|971503", + "text": "Intellectual developmental disorder with seizures and language delay" + }, + { + "baseId": "965618", + "text": "Sensory autonomic neuropathy with intellectual disability" + }, + { + "baseId": "965634|965635|965636|965637", + "text": "Optic atrophy with negative electroretinograms" + }, + { + "baseId": "965639|965640", + "text": "Mitochondrial complex 1 deficiency, nuclear type 35" + }, + { + "baseId": "965645", + "text": "Mitochondrial complex 4 deficiency, nuclear type 21" + }, + { + "baseId": "965646|965647|965648|965649", + "text": "Oocyte maturation defect 8" + }, + { + "baseId": "965772|965773", + "text": "Rajab interstitial lung disease with brain calcifications 2" + }, + { + "baseId": "965774|965775|965776|965777|965778", + "text": "Oocyte maturation defect 9" + }, + { + "baseId": "965786", + "text": "Epidermolysis Bullosa Distrophica Autosomal Recessive (RDEB)" + }, + { + "baseId": "965878", + "text": "GNB2-related condition" + }, + { + "baseId": "965882", + "text": "MTSS2-related neurodevelopmental disorder" + }, + { + "baseId": "965883", + "text": "EZH1-related disorder" + }, + { + "baseId": "965916", + "text": "ATP5PO-related disorder" + }, + { + "baseId": "965917", + "text": "microdeletion 4p16.3p16.1" + }, + { + "baseId": "965918", + "text": "duplication 8q12" + }, + { + "baseId": "965920", + "text": "10q11.22q11.23 microdeletion including CHAT and SLC18A3" + }, + { + "baseId": "965926", + "text": "Chromosome 19q13.11 deletion syndrome" + }, + { + "baseId": "966061", + "text": "Mitochondrial complex 4 deficiency, nuclear type 20" + }, + { + "baseId": "966074|966104", + "text": "Occult maculopathy" + }, + { + "baseId": "966146", + "text": "polysyndactyly" + }, + { + "baseId": "966156", + "text": "Bachmann-Bupp syndrome" + }, + { + "baseId": "966160|966161", + "text": "MADD-related condition" + }, + { + "baseId": "966162", + "text": "MPEG1-related immunodeficiency" + }, + { + "baseId": "966164|966165", + "text": "UNC45A-associated Cholestasis" + }, + { + "baseId": "966164|966165", + "text": "Impaired Hearing" + }, + { + "baseId": "966171", + "text": "ELFN1-related condition" + }, + { + "baseId": "966200|966201|966202|966203", + "text": "Combined oxidative phosphorylation deficiency 48" + }, + { + "baseId": "966360", + "text": "Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies" + }, + { + "baseId": "966618|969329", + "text": "Global proximal tubulopathy" + }, + { + "baseId": "966618|969329", + "text": "Cholestatic liver disease" + }, + { + "baseId": "966620", + "text": "Combined oxidative phosphorylation deficiency 50" + }, + { + "baseId": "966621", + "text": "Combined oxidative phosphorylation deficiency 49" + }, + { + "baseId": "966697|966704", + "text": "Right aortic arch" + }, + { + "baseId": "966700", + "text": "Fetal ascites" + }, + { + "baseId": "966701|966702|966703|966707|966708|966735", + "text": "Median cleft lip and palate" + }, + { + "baseId": "966707|966708|966712|966713", + "text": "Dysgenesis of the cerebellar vermis" + }, + { + "baseId": "966709", + "text": "Cerebral venous angioma" + }, + { + "baseId": "966710", + "text": "Gastrointestinal obstruction" + }, + { + "baseId": "966716|966717", + "text": "Deformed rib cage" + }, + { + "baseId": "966716|966717", + "text": "Abnormality of the lung" + }, + { + "baseId": "966718|966719", + "text": "Anencephaly" + }, + { + "baseId": "966883", + "text": "GH-secreting pituitary adenoma" + }, + { + "baseId": "966904", + "text": "Coenzyme q10 deficiency, primary, 9" + }, + { + "baseId": "967111|967112", + "text": "GET4 deficiency" + }, + { + "baseId": "967113|967114|967115|967116|967117|967118|967119|967120", + "text": "Familial prostate carcinoma" + }, + { + "baseId": "967133|967135", + "text": "Cleft lip/palate" + }, + { + "baseId": "967196", + "text": "Colorectal cancer susceptibility 12" + }, + { + "baseId": "967234", + "text": "Complex I deficiency" + }, + { + "baseId": "967285|967286|967287|967288|967289|970516|970517", + "text": "Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities" + }, + { + "baseId": "967290", + "text": "Spastic paraplegia 83, autosomal recessive" + }, + { + "baseId": "969091", + "text": "constitutional indocyanine green excretory defect" + }, + { + "baseId": "969133", + "text": "CNTNAP5-associated intellectual disability" + }, + { + "baseId": "969135", + "text": "mircrodeletion 17q11.2q12 including TMEM98 and SUZ12" + }, + { + "baseId": "969254", + "text": "Cornelia de Lange" + }, + { + "baseId": "969270", + "text": "Weakness of facial musculature" + }, + { + "baseId": "969290", + "text": "Distal 17p13.3 microdeletion syndrome" + }, + { + "baseId": "969296", + "text": "2q24 microdeletion syndrome" + }, + { + "baseId": "969297", + "text": "Deletion 6q16 q21" + }, + { + "baseId": "969309|969310", + "text": "POC1A-related syndrome" + }, + { + "baseId": "969573|969574", + "text": "Myofibrillar myopathy 10" + }, + { + "baseId": "969575|969576|969577", + "text": "Spermatogenic failure 44" + }, + { + "baseId": "969590", + "text": "Mitochondrial complex 4 deficiency, nuclear type 19" + }, + { + "baseId": "969772", + "text": "Cleft lip" + }, + { + "baseId": "969774", + "text": "Cornelia de Lange-like syndrome" + }, + { + "baseId": "969784", + "text": "Craniofacial-ulnar-renal syndrome" + }, + { + "baseId": "970005|970006|970007", + "text": "Microcephalic primordial dwarfism" + }, + { + "baseId": "970040|970041|970042", + "text": "Neurodevelopmental disorder with speech impairment and dysmorphic facies" + }, + { + "baseId": "970152|970153", + "text": "Combined oxidative phosphorylation deficiency 51" + }, + { + "baseId": "970321", + "text": "VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES" + }, + { + "baseId": "970341", + "text": "Intellectual Disability with multiple congenital anomalies" + }, + { + "baseId": "970484", + "text": "Vitamin D-dependent rickets, type 3" + }, + { + "baseId": "970520", + "text": "brain structure abnormalities" + }, + { + "baseId": "970525", + "text": "Blepharophimosis intellectual disability syndrome" + }, + { + "baseId": "970922", + "text": "Epilepsy, idiopathic generalized, susceptibility to, 16" + }, + { + "baseId": "971020", + "text": "Abnormality of the face" + }, + { + "baseId": "971106", + "text": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES" + }, + { + "baseId": "971107|974445|974447|974448|974450", + "text": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES" + }, + { + "baseId": "971187", + "text": "Spastic tetraplegia" + }, + { + "baseId": "971289", + "text": "Arachnoid cyst" + }, + { + "baseId": "971344", + "text": "Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome" + }, + { + "baseId": "971353|971354|971355|971356|971357", + "text": "Neurodevelopmental disorder with alopecia and brain abnormalities" + }, + { + "baseId": "971551", + "text": "Susceptibility to strabismus" + }, + { + "baseId": "971566", + "text": "Syndromic global developmental delay" + }, + { + "baseId": "971568", + "text": "Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1" + }, + { + "baseId": "971604", + "text": "Leukodystrophy, hypomyelinating, 20" + }, + { + "baseId": "971613|971614|971615|971616", + "text": "Neurodevelopmental disorder with seizures and brain atrophy" + }, + { + "baseId": "971617", + "text": "Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy" + }, + { + "baseId": "972618", + "text": "Primary bone dysplasia with multiple joint dislocations" + }, + { + "baseId": "972751|972752|972753|972754", + "text": "Delpire-McNeill syndrome" + }, + { + "baseId": "972756", + "text": "Deafness, autosomal dominant 79" + }, + { + "baseId": "972817|972818|972819|972820|972821", + "text": "Spermatogenic failure 45" + }, + { + "baseId": "972822", + "text": "Deafness, autosomal recessive 116" + }, + { + "baseId": "973022", + "text": "Congenital central hypoventilation syndrome, with or without Hirschsprung disease" + }, + { + "baseId": "973047", + "text": "EEF1A2-related disorders" + }, + { + "baseId": "973088", + "text": "Mitral valve prolapse 3" + }, + { + "baseId": "973089|973090", + "text": "SPERMATOGENIC FAILURE 47" + }, + { + "baseId": "974156|976877|976878|976879|976881|976882", + "text": "KAYA-BARAKAT-MASSON SYNDROME" + }, + { + "baseId": "974478", + "text": "SLC2A1-Related Disorders" + }, + { + "baseId": "974528", + "text": "Hemiparkinsonism-hemiatrophy syndrome" + }, + { + "baseId": "974888|974889", + "text": "TMEM53-related craniotubular dysplasia" + }, + { + "baseId": "975725", + "text": "Autoimmune connective tissue disease and vasculitis" + }, + { + "baseId": "975787", + "text": "SIM1-Related Disorders" + }, + { + "baseId": "975878", + "text": "MED12-related disorder" + }, + { + "baseId": "975890", + "text": "Complement component 4b deficiency" + }, + { + "baseId": "975899|975900", + "text": "Chondrodysplasia-pseudohermaphroditism syndrome" + }, + { + "baseId": "975905|975906|975907", + "text": "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES" + }, + { + "baseId": "976028", + "text": "RNF2-associated neurodevelopmental condition" + }, + { + "baseId": "976029", + "text": "BAP1-associated neurodevelopmental disorder" + }, + { + "baseId": "976511|976512", + "text": "Congenital bilateral perisylvian syndrome" + }, + { + "baseId": "976533|976534", + "text": "CARDIOFACIONEURODEVELOPMENTAL SYNDROME" + }, + { + "baseId": "976557|976558", + "text": "MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2" + }, + { + "baseId": "976563|976564|976565|976566|976567|976568|976569", + "text": "NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES" + }, + { + "baseId": "976583", + "text": "Pure gonadal dysgenesis 46,XY" + }, + { + "baseId": "976589|976590", + "text": "RNH1-related condition" + }, + { + "baseId": "976883|976884|976885|976886|976887", + "text": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89" + }, + { + "baseId": "976888|976889|976890|976891", + "text": "OSTEOGENESIS IMPERFECTA, TYPE XXI" + }, + { + "baseId": "977163|977164|977313|977314|977316", + "text": "Skin rash" + }, + { + "baseId": "977163|977164|977314|977316", + "text": "Arthritis" + }, + { + "baseId": "977172", + "text": "ZBTB18-related intellectual disability" + }, + { + "baseId": "977177", + "text": "GLI2-related disorders" + }, + { + "baseId": "977181", + "text": "SCN3A-related neurodevelopmental disorder" + }, + { + "baseId": "977182", + "text": "SCN2A-related generalized epilepsy with febrile seizures plus" + }, + { + "baseId": "977183", + "text": "HECW2-related neurodevelopmental disorder" + }, + { + "baseId": "977184", + "text": "KIF1A-related disorders" + }, + { + "baseId": "977186|977187", + "text": "SLC5A6-related disorder" + }, + { + "baseId": "977197", + "text": "MED12L-related neurodevelopmental disorder" + }, + { + "baseId": "977200", + "text": "CACNA1D-related neurodevelopmental and endocrine disorders" + }, + { + "baseId": "977204|977205", + "text": "PLK4-related microcephaly and growth failure with or without ocular features" + }, + { + "baseId": "977218", + "text": "HIVEP2-related syndromic intellectual disability" + }, + { + "baseId": "977219", + "text": "TUBB-related tubulinopathy" + }, + { + "baseId": "977229|977230", + "text": "ACTB-related disorders" + }, + { + "baseId": "977231|977232", + "text": "TRRAP-related neurodevelopmental disorder" + }, + { + "baseId": "977234", + "text": "CHD7-related disorders" + }, + { + "baseId": "977235", + "text": "STXBP1-related neurodevelopmental disorder" + }, + { + "baseId": "977241", + "text": "CNNM2-related neurodevelopmental disorder and hypomagnesemia" + }, + { + "baseId": "977243", + "text": "WAC-related neurodevelopmental disorder" + }, + { + "baseId": "977251", + "text": "TRPV4-associated skeletal dysplasias" + }, + { + "baseId": "977259", + "text": "SMARCC2-related neurodevelopmental disorder" + }, + { + "baseId": "977264|977265", + "text": "NBEA-related intellectual disability" + }, + { + "baseId": "977270", + "text": "TRAPPC6B-related neurodevelopmental disorder" + }, + { + "baseId": "977271", + "text": "TGFB3-related connective tissue disorders" + }, + { + "baseId": "977273", + "text": "NR2F2-related congenital heart defects" + }, + { + "baseId": "977284", + "text": "BPTF-related neurodevelopmental disorder" + }, + { + "baseId": "977291", + "text": "SMAD2-related disorders" + }, + { + "baseId": "977295", + "text": "CSNK2A1-related neurodevelopmental syndrome" + }, + { + "baseId": "977300", + "text": "PTCHD1-related autism and intellectual disability" + }, + { + "baseId": "977303", + "text": "BCOR-related disorders" + }, + { + "baseId": "977304", + "text": "CASK-related intellectual disability and microcephaly with pontine and cerebellar hypoplasia" + }, + { + "baseId": "977311", + "text": "OGT-related X-linked syndromic intellectual disability" + }, + { + "baseId": "977312", + "text": "BRWD3-related X-linked syndromic intellectual disability" + }, + { + "baseId": "977313", + "text": "Joint swelling" + }, + { + "baseId": "977320|977322", + "text": "ENDOVES (EN1-associated dorsoventral syndrome)" + }, + { + "baseId": "977321", + "text": "EN1 syndrome" + }, + { + "baseId": "977323", + "text": "Congenital miosis" + }, + { + "baseId": "977365", + "text": "FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES" + }, + { + "baseId": "977366|977367", + "text": "RITSCHER-SCHINZEL SYNDROME 3" + }, + { + "baseId": "977368|977369|977370|977371|977372", + "text": "THROMBOCYTOPENIA 7" + }, + { + "baseId": "977394|977395|977396|977397", + "text": "CARDIOACROFACIAL DYSPLASIA 2" + }, + { + "baseId": "977398", + "text": "CARDIOACROFACIAL DYSPLASIA 1" + }, + { + "baseId": "980127|980128|980129|980130|980131", + "text": "SPERMATOGENIC FAILURE 49" + }, + { + "baseId": "980132", + "text": "SPERMATOGENIC FAILURE 50" + }, + { + "baseId": "980132", + "text": "PREMATURE OVARIAN FAILURE 17" + }, + { + "baseId": "980410|980411", + "text": "Rheumatic heart disease" + }, + { + "baseId": "980451", + "text": "Coronary heart disease 1" + }, + { + "baseId": "980451", + "text": "Age-related macular degeneration 12" + }, + { + "baseId": "980452", + "text": "Diabetes mellitus, insulin-dependent, 22" + }, + { + "baseId": "980480", + "text": "Systemic lupus erythematosus 6" + }, + { + "baseId": "980516|980517|980518|980519", + "text": "FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5" + }, + { + "baseId": "980520", + "text": "AMYOTROPHIC LATERAL SCLEROSIS 26 WITH FRONTOTEMPORAL DEMENTIA" + }, + { + "baseId": "980521", + "text": "AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA" + }, + { + "baseId": "980522", + "text": "FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8" + }, + { + "baseId": "980588", + "text": "multilineage dysplasia" + }, + { + "baseId": "980590", + "text": "Generalized cerebral atrophy/hypoplasia" + }, + { + "baseId": "980704", + "text": "Trigonocephaly" + }, + { + "baseId": "980829|980830", + "text": "HEATR5B-associated Pontocerebellar hypoplasia" + }, + { + "baseId": "980858", + "text": "Familial congenital diaphragmatic hernia" + }, + { + "baseId": "983490|983491|983492|983493|983494|983495", + "text": "LESSEL-KREIENKAMP SYNDROME" + }, + { + "baseId": "983542|983543", + "text": "NEPHROTIC SYNDROME, TYPE 22" + }, + { + "baseId": "983544|983545|983546|983547|983548", + "text": "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY" + }, + { + "baseId": "983683", + "text": "Increased nuchal translucency" + }, + { + "baseId": "983745", + "text": "Disorder of sex development" + }, + { + "baseId": "983750", + "text": "DEAFNESS, AUTOSOMAL RECESSIVE 117" + }, + { + "baseId": "983807|983817", + "text": "Bilateral renal agenesis" + }, + { + "baseId": "983835|983836", + "text": "OOCYTE MATURATION DEFECT 10" + }, + { + "baseId": "983855", + "text": "2-3 finger syndactyly" + }, + { + "baseId": "984036|984037|984038|984039|984040", + "text": "MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED" + }, + { + "baseId": "984257|984258|984259|984260|984261|984262", + "text": "IMMUNODEFICIENCY 76" + } + ] +} \ No newline at end of file From 7207c0e81c1d59c4cc90bfc2c182b73cb9a92925 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Tue, 16 Feb 2021 23:21:32 +0800 Subject: [PATCH 14/72] Various fixes of the file import. --- .../rest/controller/SourcesController.java | 11 ++++++++++- .../curation/service/DataImportService.java | 3 +-- .../service/impl/DataImportServiceImpl.java | 11 +++++------ .../service/impl/MatchmakerServiceImpl.java | 2 +- src/main/resources/logback-spring.xml | 19 ++++++++----------- .../ontotools/curation/IntegrationTest.java | 2 +- 6 files changed, 26 insertions(+), 22 deletions(-) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java index cee4794..d5f8c0e 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java @@ -1,5 +1,6 @@ package uk.ac.ebi.spot.ontotools.curation.rest.controller; +import org.apache.commons.io.IOUtils; import org.joda.time.DateTime; import org.slf4j.Logger; import org.slf4j.LoggerFactory; @@ -24,6 +25,7 @@ import javax.servlet.http.HttpServletRequest; import javax.validation.Valid; +import java.io.IOException; import java.util.Arrays; import java.util.List; import java.util.stream.Collectors; @@ -124,6 +126,13 @@ public void importDataFromFile(@RequestParam MultipartFile file, @PathVariable S User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to import data from file [{} - {}] to source: {} | {}", user.getEmail(), file.getOriginalFilename(), file.getSize(), projectId, sourceId); projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR})); - dataImportService.importData(file, projectId, sourceId, user); + + try { + String fileData = IOUtils.toString(file.getInputStream(), "UTF-8"); + dataImportService.importData(fileData, projectId, sourceId, user); + } catch (IOException e) { + log.error("Unable to deserialize import data file: {}", e.getMessage(), e); + } + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/DataImportService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/DataImportService.java index fee8166..d4e52ee 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/DataImportService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/DataImportService.java @@ -1,8 +1,7 @@ package uk.ac.ebi.spot.ontotools.curation.service; -import org.springframework.web.multipart.MultipartFile; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; public interface DataImportService { - void importData(MultipartFile file, String projectId, String sourceId, User user); + void importData(String fileData, String projectId, String sourceId, User user); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java index 756f0a5..041ee13 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java @@ -8,7 +8,6 @@ import org.springframework.beans.factory.annotation.Autowired; import org.springframework.scheduling.annotation.Async; import org.springframework.stereotype.Service; -import org.springframework.web.multipart.MultipartFile; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.domain.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; @@ -45,14 +44,14 @@ public void initialize() { this.objectMapper = new ObjectMapper(); } - @Async + @Async(value = "applicationTaskExecutor") @Override - public void importData(MultipartFile file, String projectId, String sourceId, User user) { - log.info("[{} | {}] Importing data from: {}", projectId, sourceId, file.getOriginalFilename()); + public void importData(String fileData, String projectId, String sourceId, User user) { + log.info("[{} | {}] Importing data from file.", projectId, sourceId); Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); Project project = projectService.retrieveProject(projectId, user); try { - ImportDataPackageDto importDataPackageDto = this.objectMapper.readValue(file.getInputStream(), new TypeReference() { + ImportDataPackageDto importDataPackageDto = this.objectMapper.readValue(fileData, new TypeReference() { }); log.info("Received {} entries to import.", importDataPackageDto.getData().size()); @@ -64,7 +63,7 @@ public void importData(MultipartFile file, String projectId, String sourceId, Us sourceId, provenance, EntityStatus.UNMAPPED)); count++; if (count % 100 == 0) { - log.info(" -- [{} | {}] Progress: {} of {}", count, importDataPackageDto.getData().size()); + log.info(" -- [{} | {}] Progress: {} of {}", projectId, sourceId, count, importDataPackageDto.getData().size()); } } long eTime = System.currentTimeMillis(); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java index a2782f0..ecd5d3f 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java @@ -53,7 +53,7 @@ public class MatchmakerServiceImpl implements MatchmakerService { private UserService userService; @Override - @Async + @Async(value = "applicationTaskExecutor") public void runMatchmaking(String sourceId, Project project) { log.info("Running auto-mapping for source: {}", sourceId); User robotUser = userService.retrieveRobotUser(); diff --git a/src/main/resources/logback-spring.xml b/src/main/resources/logback-spring.xml index 823a79b..bf4a21c 100644 --- a/src/main/resources/logback-spring.xml +++ b/src/main/resources/logback-spring.xml @@ -23,11 +23,11 @@ - + @@ -79,12 +79,9 @@ - - + + + diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index 12b8759..22228f3 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -49,7 +49,7 @@ public abstract class IntegrationTest { public static class MockTaskExecutorConfig { @Bean - public TaskExecutor taskExecutor() { + public TaskExecutor applicationTaskExecutor() { return new SyncTaskExecutor(); } } From 74019118c71390354e4daacdf349645d4fddfb3e Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Wed, 17 Feb 2021 15:23:17 +0800 Subject: [PATCH 15/72] Fixed entities collection. Removed DEBUG logging. --- .../java/uk/ac/ebi/spot/ontotools/curation/domain/Entity.java | 2 +- src/main/resources/logback-spring.xml | 2 ++ 2 files changed, 3 insertions(+), 1 deletion(-) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Entity.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Entity.java index 63be43c..94512d8 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Entity.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Entity.java @@ -9,7 +9,7 @@ import org.springframework.data.mongodb.core.mapping.Document; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; -@Document(collection = "mappings") +@Document(collection = "entities") @Getter @Setter @NoArgsConstructor diff --git a/src/main/resources/logback-spring.xml b/src/main/resources/logback-spring.xml index bf4a21c..01af70d 100644 --- a/src/main/resources/logback-spring.xml +++ b/src/main/resources/logback-spring.xml @@ -79,9 +79,11 @@ + From 67fcf304ebaa8c334bd5ffe17900ffb6bb832753 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Wed, 17 Feb 2021 21:49:23 +0800 Subject: [PATCH 16/72] Fixed typo in Project. --- .../ac/ebi/spot/ontotools/curation/domain/auth/Project.java | 2 +- .../curation/rest/assembler/ProjectDtoAssembler.java | 2 +- .../curation/service/impl/MatchmakerServiceImpl.java | 2 +- .../curation/service/impl/OntologyTermServiceImpl.java | 4 ++-- 4 files changed, 5 insertions(+), 5 deletions(-) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Project.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Project.java index 316eb34..f29dc64 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Project.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Project.java @@ -41,7 +41,7 @@ public class Project { /** * Ontology ID used when creating ontology terms locally to query OLS for a mapping */ - private String preferredMappintOntology; + private String preferredMappingOntology; private Provenance created; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java index b33e238..1ad5da2 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java @@ -15,7 +15,7 @@ public static ProjectDto assemble(Project project) { project.getDescription(), project.getDatasources(), project.getOntologies(), - project.getPreferredMappintOntology(), + project.getPreferredMappingOntology(), ProvenanceDtoAssembler.assemble(project.getCreated())); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java index ecd5d3f..b5c5b82 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java @@ -58,7 +58,7 @@ public void runMatchmaking(String sourceId, Project project) { log.info("Running auto-mapping for source: {}", sourceId); User robotUser = userService.retrieveRobotUser(); project.setOntologies(CurationUtil.toLowerCase(project.getOntologies())); - project.setPreferredMappintOntology(project.getPreferredMappintOntology().toLowerCase()); + project.setPreferredMappingOntology(project.getPreferredMappingOntology().toLowerCase()); long sTime = System.currentTimeMillis(); Stream entityStream = entityService.retrieveEntitiesForSource(sourceId); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java index b822584..4f21016 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java @@ -52,11 +52,11 @@ public OntologyTerm createTerm(String iri, Project project) { return ontologyTermOp.get(); } - List preferredOntoResponse = olsService.retrieveTerms(project.getPreferredMappintOntology(), iri); + List preferredOntoResponse = olsService.retrieveTerms(project.getPreferredMappingOntology(), iri); List parentOntoResponse = new ArrayList<>(); String ontoId = CurationUtil.ontoFromIRI(iri); String termStatus; - if (!ontoId.equalsIgnoreCase(project.getPreferredMappintOntology())) { + if (!ontoId.equalsIgnoreCase(project.getPreferredMappingOntology())) { parentOntoResponse = olsService.retrieveTerms(ontoId, iri); termStatus = parseStatus(preferredOntoResponse, parentOntoResponse, null); } else { From 2f2e183d529adf940c385bc5c040afeeb5ead470 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Thu, 18 Feb 2021 20:50:15 +0800 Subject: [PATCH 17/72] Changed project-level configuration to accept field-level mappings. --- .../curation/domain/{auth => }/Project.java | 18 ++++++--- .../spot/ontotools/curation/domain/Trait.java | 34 ---------------- .../{ => config}/ExternalServiceConfig.java | 2 +- .../domain/config/ProjectMappingConfig.java | 18 +++++++++ .../domain/{ => mapping}/Comment.java | 3 +- .../curation/domain/{ => mapping}/Entity.java | 3 +- .../domain/{ => mapping}/Mapping.java | 4 +- .../{ => mapping}/MappingSuggestion.java | 3 +- .../domain/{ => mapping}/OntologyTerm.java | 2 +- .../repository/CommentRepository.java | 2 +- .../curation/repository/EntityRepository.java | 2 +- .../ExternalServiceConfigRepository.java | 2 +- .../repository/MappingRepository.java | 2 +- .../MappingSuggestionRepository.java | 2 +- .../repository/OntologyTermRepository.java | 2 +- .../repository/ProjectRepository.java | 2 +- .../curation/repository/TraitRepository.java | 7 ---- .../rest/assembler/EntityDtoAssembler.java | 6 +-- .../ExternalServiceConfigDtoAssembler.java | 2 +- .../rest/assembler/MappingDtoAssembler.java | 2 +- .../MappingSuggestionDtoAssembler.java | 2 +- .../assembler/OntologyTermDtoAssembler.java | 2 +- .../rest/assembler/ProjectDtoAssembler.java | 21 +++++----- .../ProjectMappingConfigDtoAssembler.java | 15 +++++++ .../rest/controller/EntityController.java | 6 +-- .../rest/controller/MappingsController.java | 5 ++- .../controller/OntologyTermController.java | 2 +- .../controller/PlatformAdminController.java | 2 +- .../rest/controller/ProjectsController.java | 2 +- .../rest/controller/SourcesController.java | 2 +- .../curation/rest/dto/ProjectCreationDto.java | 26 ++++++------ .../curation/rest/dto/ProjectDto.java | 24 +++++------ .../rest/dto/ProjectMappingConfigDto.java | 40 +++++++++++++++++++ .../curation/service/ConfigRegistry.java | 2 +- .../curation/service/EntityService.java | 2 +- .../service/ExternalServiceConfigService.java | 2 +- .../curation/service/MappingService.java | 6 +-- .../service/MappingSuggestionsService.java | 6 +-- .../curation/service/MatchmakerService.java | 2 +- .../curation/service/OntologyTermService.java | 4 +- .../curation/service/ProjectService.java | 2 +- .../curation/service/UserService.java | 1 - .../service/impl/ConfigRegistryImpl.java | 2 +- .../service/impl/DataImportServiceImpl.java | 4 +- .../service/impl/EntityServiceImpl.java | 2 +- .../ExternalServiceConfigServiceImpl.java | 2 +- .../service/impl/MappingServiceImpl.java | 6 +-- .../impl/MappingSuggestionsServiceImpl.java | 6 +-- .../service/impl/MatchmakerServiceImpl.java | 25 +++++++----- .../service/impl/OntologyTermServiceImpl.java | 11 +++-- .../service/impl/ProjectServiceImpl.java | 2 +- .../ontotools/curation/util/CurationUtil.java | 39 +++++++++++++++++- .../curation/EntityControllerTest.java | 2 +- .../ontotools/curation/IntegrationTest.java | 29 +++++++++----- .../curation/MappingsControllerTest.java | 2 +- .../ontotools/curation/MatchMakingTest.java | 7 +++- .../ontotools/curation/OXOServiceTest.java | 2 +- .../curation/OntologyTermControllerTest.java | 2 +- .../curation/PlatformAdminControllerTest.java | 2 +- .../curation/ProjectsControllerTest.java | 13 +++--- .../rest/dto/ProjectMappingConfigDtoTest.java | 14 +++++++ 61 files changed, 294 insertions(+), 172 deletions(-) rename src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/{auth => }/Project.java (61%) delete mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Trait.java rename src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/{ => config}/ExternalServiceConfig.java (90%) create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/config/ProjectMappingConfig.java rename src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/{ => mapping}/Comment.java (82%) rename src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/{ => mapping}/Entity.java (85%) rename src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/{ => mapping}/Mapping.java (89%) rename src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/{ => mapping}/MappingSuggestion.java (88%) rename src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/{ => mapping}/OntologyTerm.java (92%) delete mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/TraitRepository.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectMappingConfigDtoAssembler.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectMappingConfigDto.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectMappingConfigDtoTest.java diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Project.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Project.java similarity index 61% rename from src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Project.java rename to src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Project.java index f29dc64..fbc2a33 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/Project.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Project.java @@ -1,4 +1,4 @@ -package uk.ac.ebi.spot.ontotools.curation.domain.auth; +package uk.ac.ebi.spot.ontotools.curation.domain; import lombok.AllArgsConstructor; import lombok.Getter; @@ -6,7 +6,7 @@ import lombok.Setter; import org.springframework.data.annotation.Id; import org.springframework.data.mongodb.core.mapping.Document; -import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; +import uk.ac.ebi.spot.ontotools.curation.domain.config.ProjectMappingConfig; import java.util.List; @@ -27,21 +27,27 @@ public class Project { /** * List of datasources used to query Zooma to retrieve suggestions. * Zooma service uses this list to filter results pertaining only to these datasources. + *

+ * `ProjectMappingConfig` enables a field-based mapping preference setting. + * The default value for `field` when fields are not used is ALL. */ - private List datasources; + private List datasources; /** * List of datasources used to query Zooma to retrieve suggestions. * Zooma service uses this list to filter results pertaining only to these ontologies. - * + *

+ * `ProjectMappingConfig` enables a field-based mapping preference setting. + * The default value for `field` when fields are not used is ALL. + *

* NB: Orphanet prefix used by Zooma is `ordo` */ - private List ontologies; + private List ontologies; /** * Ontology ID used when creating ontology terms locally to query OLS for a mapping */ - private String preferredMappingOntology; + private List preferredMappingOntologies; private Provenance created; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Trait.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Trait.java deleted file mode 100644 index 49ecd12..0000000 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Trait.java +++ /dev/null @@ -1,34 +0,0 @@ -package uk.ac.ebi.spot.ontotools.curation.domain; - -import lombok.Getter; -import lombok.Setter; -import org.springframework.data.annotation.Id; -import org.springframework.data.mongodb.core.mapping.Document; - -@Document(collection = "traits") -@Getter -@Setter -public class Trait { - - @Id - private String id; - - private String name; - - private int noSourceRecords; - - private Provenance created; - - private Provenance lastUpdated; - - public Trait() { - } - - - public Trait(String name, Provenance created) { - this.name = name; - this.noSourceRecords = 0; - this.created = created; - this.lastUpdated = created; - } -} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ExternalServiceConfig.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/config/ExternalServiceConfig.java similarity index 90% rename from src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ExternalServiceConfig.java rename to src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/config/ExternalServiceConfig.java index 286a11b..949de6a 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ExternalServiceConfig.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/config/ExternalServiceConfig.java @@ -1,4 +1,4 @@ -package uk.ac.ebi.spot.ontotools.curation.domain; +package uk.ac.ebi.spot.ontotools.curation.domain.config; import lombok.AllArgsConstructor; import lombok.Getter; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/config/ProjectMappingConfig.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/config/ProjectMappingConfig.java new file mode 100644 index 0000000..90a6481 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/config/ProjectMappingConfig.java @@ -0,0 +1,18 @@ +package uk.ac.ebi.spot.ontotools.curation.domain.config; + +import lombok.AllArgsConstructor; +import lombok.Getter; + +import java.util.List; + +@AllArgsConstructor +@Getter +public class ProjectMappingConfig { + + public static final String ALL = "ALL"; + + private String field; + + private List mappingList; + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Comment.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Comment.java similarity index 82% rename from src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Comment.java rename to src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Comment.java index eedfdc8..e6d6dce 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Comment.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Comment.java @@ -1,9 +1,10 @@ -package uk.ac.ebi.spot.ontotools.curation.domain; +package uk.ac.ebi.spot.ontotools.curation.domain.mapping; import lombok.Getter; import lombok.Setter; import org.springframework.data.annotation.Id; import org.springframework.data.mongodb.core.mapping.Document; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; @Document(collection = "comments") @Getter diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Entity.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Entity.java similarity index 85% rename from src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Entity.java rename to src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Entity.java index 94512d8..fa550bf 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Entity.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Entity.java @@ -1,4 +1,4 @@ -package uk.ac.ebi.spot.ontotools.curation.domain; +package uk.ac.ebi.spot.ontotools.curation.domain.mapping; import lombok.AllArgsConstructor; import lombok.Getter; @@ -8,6 +8,7 @@ import org.springframework.data.mongodb.core.index.Indexed; import org.springframework.data.mongodb.core.mapping.Document; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; @Document(collection = "entities") @Getter diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Mapping.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java similarity index 89% rename from src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Mapping.java rename to src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java index b7b17c5..f87a9c9 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Mapping.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java @@ -1,4 +1,4 @@ -package uk.ac.ebi.spot.ontotools.curation.domain; +package uk.ac.ebi.spot.ontotools.curation.domain.mapping; import lombok.AllArgsConstructor; import lombok.Getter; @@ -11,6 +11,8 @@ import org.springframework.data.mongodb.core.index.Indexed; import org.springframework.data.mongodb.core.mapping.Document; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; +import uk.ac.ebi.spot.ontotools.curation.domain.Review; import java.util.ArrayList; import java.util.List; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MappingSuggestion.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/MappingSuggestion.java similarity index 88% rename from src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MappingSuggestion.java rename to src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/MappingSuggestion.java index bda11a5..fea5c98 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MappingSuggestion.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/MappingSuggestion.java @@ -1,4 +1,4 @@ -package uk.ac.ebi.spot.ontotools.curation.domain; +package uk.ac.ebi.spot.ontotools.curation.domain.mapping; import lombok.AllArgsConstructor; import lombok.Getter; @@ -10,6 +10,7 @@ import org.springframework.data.mongodb.core.index.CompoundIndexes; import org.springframework.data.mongodb.core.index.Indexed; import org.springframework.data.mongodb.core.mapping.Document; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; @Document(collection = "mappingSuggestions") @Getter diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/OntologyTerm.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/OntologyTerm.java similarity index 92% rename from src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/OntologyTerm.java rename to src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/OntologyTerm.java index d5055cb..69cea60 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/OntologyTerm.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/OntologyTerm.java @@ -1,4 +1,4 @@ -package uk.ac.ebi.spot.ontotools.curation.domain; +package uk.ac.ebi.spot.ontotools.curation.domain.mapping; import lombok.AllArgsConstructor; import lombok.Getter; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/CommentRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/CommentRepository.java index a268796..288dfbf 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/CommentRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/CommentRepository.java @@ -1,7 +1,7 @@ package uk.ac.ebi.spot.ontotools.curation.repository; import org.springframework.data.mongodb.repository.MongoRepository; -import uk.ac.ebi.spot.ontotools.curation.domain.Comment; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Comment; public interface CommentRepository extends MongoRepository { } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java index f4b0891..c201e71 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java @@ -3,7 +3,7 @@ import org.springframework.data.domain.Page; import org.springframework.data.domain.Pageable; import org.springframework.data.mongodb.repository.MongoRepository; -import uk.ac.ebi.spot.ontotools.curation.domain.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import java.util.List; import java.util.stream.Stream; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ExternalServiceConfigRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ExternalServiceConfigRepository.java index b6c3d1b..ced82be 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ExternalServiceConfigRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ExternalServiceConfigRepository.java @@ -1,7 +1,7 @@ package uk.ac.ebi.spot.ontotools.curation.repository; import org.springframework.data.mongodb.repository.MongoRepository; -import uk.ac.ebi.spot.ontotools.curation.domain.ExternalServiceConfig; +import uk.ac.ebi.spot.ontotools.curation.domain.config.ExternalServiceConfig; import java.util.Optional; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java index 9d8a249..aa94815 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java @@ -1,7 +1,7 @@ package uk.ac.ebi.spot.ontotools.curation.repository; import org.springframework.data.mongodb.repository.MongoRepository; -import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; import java.util.List; import java.util.Optional; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingSuggestionRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingSuggestionRepository.java index 71faa58..2c4e19b 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingSuggestionRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingSuggestionRepository.java @@ -1,7 +1,7 @@ package uk.ac.ebi.spot.ontotools.curation.repository; import org.springframework.data.mongodb.repository.MongoRepository; -import uk.ac.ebi.spot.ontotools.curation.domain.MappingSuggestion; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.MappingSuggestion; import java.util.List; import java.util.Optional; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java index b2adb78..f4861fa 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java @@ -1,7 +1,7 @@ package uk.ac.ebi.spot.ontotools.curation.repository; import org.springframework.data.mongodb.repository.MongoRepository; -import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; import java.util.List; import java.util.Optional; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ProjectRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ProjectRepository.java index f113a21..d0910be 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ProjectRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ProjectRepository.java @@ -1,7 +1,7 @@ package uk.ac.ebi.spot.ontotools.curation.repository; import org.springframework.data.mongodb.repository.MongoRepository; -import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; import java.util.List; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/TraitRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/TraitRepository.java deleted file mode 100644 index 89ceb08..0000000 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/TraitRepository.java +++ /dev/null @@ -1,7 +0,0 @@ -package uk.ac.ebi.spot.ontotools.curation.repository; - -import org.springframework.data.mongodb.repository.MongoRepository; -import uk.ac.ebi.spot.ontotools.curation.domain.Trait; - -public interface TraitRepository extends MongoRepository { -} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java index 66c62c5..89cba97 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java @@ -1,8 +1,8 @@ package uk.ac.ebi.spot.ontotools.curation.rest.assembler; -import uk.ac.ebi.spot.ontotools.curation.domain.Entity; -import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; -import uk.ac.ebi.spot.ontotools.curation.domain.MappingSuggestion; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.MappingSuggestion; import uk.ac.ebi.spot.ontotools.curation.rest.dto.EntityDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingDto; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ExternalServiceConfigDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ExternalServiceConfigDtoAssembler.java index d51adbd..2a230b4 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ExternalServiceConfigDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ExternalServiceConfigDtoAssembler.java @@ -1,6 +1,6 @@ package uk.ac.ebi.spot.ontotools.curation.rest.assembler; -import uk.ac.ebi.spot.ontotools.curation.domain.ExternalServiceConfig; +import uk.ac.ebi.spot.ontotools.curation.domain.config.ExternalServiceConfig; import uk.ac.ebi.spot.ontotools.curation.rest.dto.config.ExternalServiceConfigDto; import uk.ac.ebi.spot.ontotools.curation.util.CurationUtil; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java index 10ca396..9a7856c 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java @@ -1,6 +1,6 @@ package uk.ac.ebi.spot.ontotools.curation.rest.assembler; -import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingDto; import java.util.ArrayList; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingSuggestionDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingSuggestionDtoAssembler.java index 63cfc41..0c24800 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingSuggestionDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingSuggestionDtoAssembler.java @@ -1,6 +1,6 @@ package uk.ac.ebi.spot.ontotools.curation.rest.assembler; -import uk.ac.ebi.spot.ontotools.curation.domain.MappingSuggestion; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.MappingSuggestion; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingSuggestionDto; public class MappingSuggestionDtoAssembler { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/OntologyTermDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/OntologyTermDtoAssembler.java index 783afea..2363c82 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/OntologyTermDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/OntologyTermDtoAssembler.java @@ -2,7 +2,7 @@ import org.apache.commons.codec.digest.DigestUtils; import uk.ac.ebi.spot.ontotools.curation.constants.TermStatus; -import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.OntologyTermDto; public class OntologyTermDtoAssembler { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java index 1ad5da2..d62c4f3 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java @@ -1,11 +1,12 @@ package uk.ac.ebi.spot.ontotools.curation.rest.assembler; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; -import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectCreationDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; import java.util.ArrayList; +import java.util.stream.Collectors; public class ProjectDtoAssembler { @@ -13,9 +14,9 @@ public static ProjectDto assemble(Project project) { return new ProjectDto(project.getId(), project.getName(), project.getDescription(), - project.getDatasources(), - project.getOntologies(), - project.getPreferredMappingOntology(), + project.getDatasources() != null ? project.getDatasources().stream().map(ProjectMappingConfigDtoAssembler::assemble).collect(Collectors.toList()) : new ArrayList<>(), + project.getOntologies() != null ? project.getOntologies().stream().map(ProjectMappingConfigDtoAssembler::assemble).collect(Collectors.toList()) : new ArrayList<>(), + project.getPreferredMappingOntologies(), ProvenanceDtoAssembler.assemble(project.getCreated())); } @@ -23,9 +24,9 @@ public static Project disassemble(ProjectDto project) { return new Project(project.getId(), project.getName(), project.getDescription(), - project.getDatasources(), - project.getOntologies(), - project.getPreferredMappingOntology(), + project.getDatasources() != null ? project.getDatasources().stream().map(ProjectMappingConfigDtoAssembler::disassemble).collect(Collectors.toList()) : new ArrayList<>(), + project.getOntologies() != null ? project.getOntologies().stream().map(ProjectMappingConfigDtoAssembler::disassemble).collect(Collectors.toList()) : new ArrayList<>(), + project.getPreferredMappingOntologies(), ProvenanceDtoAssembler.disassemble(project.getCreated())); } @@ -33,9 +34,9 @@ public static Project disassemble(ProjectCreationDto project, Provenance provena return new Project(null, project.getName(), project.getDescription(), - project.getDatasources() != null ? project.getDatasources() : new ArrayList<>(), - project.getOntologies() != null ? project.getOntologies() : new ArrayList<>(), - project.getPreferredMappingOntology(), + project.getDatasources() != null ? project.getDatasources().stream().map(ProjectMappingConfigDtoAssembler::disassemble).collect(Collectors.toList()) : new ArrayList<>(), + project.getOntologies() != null ? project.getOntologies().stream().map(ProjectMappingConfigDtoAssembler::disassemble).collect(Collectors.toList()) : new ArrayList<>(), + project.getPreferredMappingOntologies(), provenance); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectMappingConfigDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectMappingConfigDtoAssembler.java new file mode 100644 index 0000000..bbcbce0 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectMappingConfigDtoAssembler.java @@ -0,0 +1,15 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.assembler; + +import uk.ac.ebi.spot.ontotools.curation.domain.config.ProjectMappingConfig; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectMappingConfigDto; + +public class ProjectMappingConfigDtoAssembler { + + public static ProjectMappingConfigDto assemble(ProjectMappingConfig projectMappingConfig) { + return new ProjectMappingConfigDto(projectMappingConfig.getField(), projectMappingConfig.getMappingList()); + } + + public static ProjectMappingConfig disassemble(ProjectMappingConfigDto projectMappingConfig) { + return new ProjectMappingConfig(projectMappingConfig.getField(), projectMappingConfig.getMappingList()); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java index 1f8fb51..2ac203e 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java @@ -11,9 +11,9 @@ import org.springframework.web.bind.annotation.*; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; -import uk.ac.ebi.spot.ontotools.curation.domain.Entity; -import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; -import uk.ac.ebi.spot.ontotools.curation.domain.MappingSuggestion; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.MappingSuggestion; import uk.ac.ebi.spot.ontotools.curation.domain.Source; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.rest.assembler.EntityDtoAssembler; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java index 8766c6b..414233a 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java @@ -11,8 +11,11 @@ import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; import uk.ac.ebi.spot.ontotools.curation.domain.*; -import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.MappingSuggestion; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.rest.assembler.EntityDtoAssembler; import uk.ac.ebi.spot.ontotools.curation.rest.assembler.SourceDtoAssembler; import uk.ac.ebi.spot.ontotools.curation.rest.dto.EntityDto; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/OntologyTermController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/OntologyTermController.java index bd46fec..af0d442 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/OntologyTermController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/OntologyTermController.java @@ -7,7 +7,7 @@ import org.springframework.http.MediaType; import org.springframework.web.bind.annotation.*; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; -import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.rest.assembler.OntologyTermDtoAssembler; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.OntologyTermDto; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/PlatformAdminController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/PlatformAdminController.java index f32cd0c..7d08411 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/PlatformAdminController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/PlatformAdminController.java @@ -7,7 +7,7 @@ import org.springframework.http.MediaType; import org.springframework.web.bind.annotation.*; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; -import uk.ac.ebi.spot.ontotools.curation.domain.ExternalServiceConfig; +import uk.ac.ebi.spot.ontotools.curation.domain.config.ExternalServiceConfig; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.exception.AuthorizationException; import uk.ac.ebi.spot.ontotools.curation.rest.assembler.ExternalServiceConfigDtoAssembler; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java index 7433812..254e59b 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java @@ -10,7 +10,7 @@ import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; -import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.rest.assembler.ProjectDtoAssembler; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectCreationDto; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java index d5f8c0e..e78aca8 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java @@ -12,7 +12,7 @@ import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; -import uk.ac.ebi.spot.ontotools.curation.domain.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.Source; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectCreationDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectCreationDto.java index 6b52a9b..c13ca76 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectCreationDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectCreationDto.java @@ -23,25 +23,25 @@ public final class ProjectCreationDto implements Serializable { private final String description; @JsonProperty("datasources") - private final List datasources; + private final List datasources; @JsonProperty("ontologies") - private final List ontologies; + private final List ontologies; - @JsonProperty("preferredMappingOntology") - private final String preferredMappingOntology; + @JsonProperty("preferredMappingOntologies") + private final List preferredMappingOntologies; @JsonCreator public ProjectCreationDto(@JsonProperty("name") String name, @JsonProperty("description") String description, - @JsonProperty("datasources") List datasources, - @JsonProperty("ontologies") List ontologies, - @JsonProperty("preferredMappingOntology") String preferredMappingOntology) { + @JsonProperty("datasources") List datasources, + @JsonProperty("ontologies") List ontologies, + @JsonProperty("preferredMappingOntologies") List preferredMappingOntologies) { this.name = name; this.description = description; this.datasources = datasources; this.ontologies = ontologies; - this.preferredMappingOntology = preferredMappingOntology; + this.preferredMappingOntologies = preferredMappingOntologies; } public String getName() { @@ -52,15 +52,15 @@ public String getDescription() { return description; } - public List getDatasources() { + public List getDatasources() { return datasources; } - public String getPreferredMappingOntology() { - return preferredMappingOntology; + public List getOntologies() { + return ontologies; } - public List getOntologies() { - return ontologies; + public List getPreferredMappingOntologies() { + return preferredMappingOntologies; } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDto.java index ef56021..edb7381 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDto.java @@ -27,13 +27,13 @@ public final class ProjectDto implements Serializable { private final String description; @JsonProperty("datasources") - private final List datasources; + private final List datasources; @JsonProperty("ontologies") - private final List ontologies; + private final List ontologies; - @JsonProperty("preferredMappingOntology") - private final String preferredMappingOntology; + @JsonProperty("preferredMappingOntologies") + private final List preferredMappingOntologies; @JsonProperty("created") private final ProvenanceDto created; @@ -42,16 +42,16 @@ public final class ProjectDto implements Serializable { public ProjectDto(@JsonProperty("id") String id, @JsonProperty("name") String name, @JsonProperty("description") String description, - @JsonProperty("datasources") List datasources, - @JsonProperty("ontologies") List ontologies, - @JsonProperty("preferredMappingOntology") String preferredMappingOntology, + @JsonProperty("datasources") List datasources, + @JsonProperty("ontologies") List ontologies, + @JsonProperty("preferredMappingOntologies") List preferredMappingOntologies, @JsonProperty("created") ProvenanceDto created) { this.id = id; this.name = name; this.description = description; this.datasources = datasources; this.ontologies = ontologies; - this.preferredMappingOntology = preferredMappingOntology; + this.preferredMappingOntologies = preferredMappingOntologies; this.created = created; } @@ -67,16 +67,16 @@ public String getDescription() { return description; } - public List getDatasources() { + public List getDatasources() { return datasources; } - public List getOntologies() { + public List getOntologies() { return ontologies; } - public String getPreferredMappingOntology() { - return preferredMappingOntology; + public List getPreferredMappingOntologies() { + return preferredMappingOntologies; } public ProvenanceDto getCreated() { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectMappingConfigDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectMappingConfigDto.java new file mode 100644 index 0000000..9d365ab --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectMappingConfigDto.java @@ -0,0 +1,40 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import javax.validation.constraints.NotEmpty; +import java.io.Serializable; +import java.util.List; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class ProjectMappingConfigDto implements Serializable { + + private static final long serialVersionUID = 5092703110421044505L; + + @NotEmpty + @JsonProperty("field") + private final String field; + + @NotEmpty + @JsonProperty("mappingList") + private final List mappingList; + + @JsonCreator + public ProjectMappingConfigDto(@JsonProperty("field") String field, + @JsonProperty("mappingList") List mappingList) { + this.field = field; + this.mappingList = mappingList; + } + + public String getField() { + return field; + } + + public List getMappingList() { + return mappingList; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ConfigRegistry.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ConfigRegistry.java index 5abbca7..11b3238 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ConfigRegistry.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ConfigRegistry.java @@ -1,6 +1,6 @@ package uk.ac.ebi.spot.ontotools.curation.service; -import uk.ac.ebi.spot.ontotools.curation.domain.ExternalServiceConfig; +import uk.ac.ebi.spot.ontotools.curation.domain.config.ExternalServiceConfig; /** * Class in charge with keeping a registry of services awaiting for real-time configuration updates. diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java index 24e9085..d0c5ee9 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java @@ -3,7 +3,7 @@ import org.springframework.data.domain.Page; import org.springframework.data.domain.Pageable; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; -import uk.ac.ebi.spot.ontotools.curation.domain.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.Source; import java.util.List; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ExternalServiceConfigService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ExternalServiceConfigService.java index 270a0b5..42a41a7 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ExternalServiceConfigService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ExternalServiceConfigService.java @@ -1,6 +1,6 @@ package uk.ac.ebi.spot.ontotools.curation.service; -import uk.ac.ebi.spot.ontotools.curation.domain.ExternalServiceConfig; +import uk.ac.ebi.spot.ontotools.curation.domain.config.ExternalServiceConfig; import java.util.List; import java.util.Map; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java index a1c7e20..c72bb10 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java @@ -1,8 +1,8 @@ package uk.ac.ebi.spot.ontotools.curation.service; -import uk.ac.ebi.spot.ontotools.curation.domain.Entity; -import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; -import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import java.util.List; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingSuggestionsService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingSuggestionsService.java index 23253fb..bb06623 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingSuggestionsService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingSuggestionsService.java @@ -1,8 +1,8 @@ package uk.ac.ebi.spot.ontotools.curation.service; -import uk.ac.ebi.spot.ontotools.curation.domain.Entity; -import uk.ac.ebi.spot.ontotools.curation.domain.MappingSuggestion; -import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.MappingSuggestion; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import java.util.List; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakerService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakerService.java index 5638321..58be5be 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakerService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakerService.java @@ -1,6 +1,6 @@ package uk.ac.ebi.spot.ontotools.curation.service; -import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; public interface MatchmakerService { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java index 051cce6..614fb32 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java @@ -1,7 +1,7 @@ package uk.ac.ebi.spot.ontotools.curation.service; -import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; -import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; import java.util.List; import java.util.Map; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectService.java index dac1e2d..1e4b457 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectService.java @@ -1,7 +1,7 @@ package uk.ac.ebi.spot.ontotools.curation.service; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; -import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import java.util.List; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/UserService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/UserService.java index a23c70d..da4d0c4 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/UserService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/UserService.java @@ -1,7 +1,6 @@ package uk.ac.ebi.spot.ontotools.curation.service; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; -import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import java.util.List; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ConfigRegistryImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ConfigRegistryImpl.java index 32c5aa2..a0038ff 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ConfigRegistryImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ConfigRegistryImpl.java @@ -2,7 +2,7 @@ import org.springframework.scheduling.annotation.Async; import org.springframework.stereotype.Service; -import uk.ac.ebi.spot.ontotools.curation.domain.ExternalServiceConfig; +import uk.ac.ebi.spot.ontotools.curation.domain.config.ExternalServiceConfig; import uk.ac.ebi.spot.ontotools.curation.service.ConfigListener; import uk.ac.ebi.spot.ontotools.curation.service.ConfigRegistry; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java index 041ee13..cc8ce13 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java @@ -9,9 +9,9 @@ import org.springframework.scheduling.annotation.Async; import org.springframework.stereotype.Service; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; -import uk.ac.ebi.spot.ontotools.curation.domain.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; -import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.rest.dto.dataimport.ImportDataElementDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.dataimport.ImportDataPackageDto; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java index 90966db..09b9860 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java @@ -7,7 +7,7 @@ import org.springframework.data.domain.Pageable; import org.springframework.stereotype.Service; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; -import uk.ac.ebi.spot.ontotools.curation.domain.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.Source; import uk.ac.ebi.spot.ontotools.curation.exception.EntityNotFoundException; import uk.ac.ebi.spot.ontotools.curation.repository.EntityRepository; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ExternalServiceConfigServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ExternalServiceConfigServiceImpl.java index c431644..9c55a11 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ExternalServiceConfigServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ExternalServiceConfigServiceImpl.java @@ -4,7 +4,7 @@ import org.slf4j.LoggerFactory; import org.springframework.beans.factory.annotation.Autowired; import org.springframework.stereotype.Service; -import uk.ac.ebi.spot.ontotools.curation.domain.ExternalServiceConfig; +import uk.ac.ebi.spot.ontotools.curation.domain.config.ExternalServiceConfig; import uk.ac.ebi.spot.ontotools.curation.exception.EntityNotFoundException; import uk.ac.ebi.spot.ontotools.curation.repository.ExternalServiceConfigRepository; import uk.ac.ebi.spot.ontotools.curation.service.ConfigRegistry; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java index c75a837..06e3339 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java @@ -5,9 +5,9 @@ import org.springframework.beans.factory.annotation.Autowired; import org.springframework.stereotype.Service; import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; -import uk.ac.ebi.spot.ontotools.curation.domain.Entity; -import uk.ac.ebi.spot.ontotools.curation.domain.Mapping; -import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.repository.MappingRepository; import uk.ac.ebi.spot.ontotools.curation.service.MappingService; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java index 664f7b7..b6b5c5e 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java @@ -5,9 +5,9 @@ import org.springframework.beans.factory.annotation.Autowired; import org.springframework.scheduling.annotation.Async; import org.springframework.stereotype.Service; -import uk.ac.ebi.spot.ontotools.curation.domain.Entity; -import uk.ac.ebi.spot.ontotools.curation.domain.MappingSuggestion; -import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.MappingSuggestion; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.repository.MappingSuggestionRepository; import uk.ac.ebi.spot.ontotools.curation.service.MappingSuggestionsService; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java index b5c5b82..673ab31 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java @@ -7,11 +7,11 @@ import org.springframework.scheduling.annotation.Async; import org.springframework.stereotype.Service; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; -import uk.ac.ebi.spot.ontotools.curation.domain.Entity; -import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; -import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSTermDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.oxo.OXOMappingResponseDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.zooma.ZoomaResponseDto; @@ -57,8 +57,9 @@ public class MatchmakerServiceImpl implements MatchmakerService { public void runMatchmaking(String sourceId, Project project) { log.info("Running auto-mapping for source: {}", sourceId); User robotUser = userService.retrieveRobotUser(); - project.setOntologies(CurationUtil.toLowerCase(project.getOntologies())); - project.setPreferredMappingOntology(project.getPreferredMappingOntology().toLowerCase()); + project.setOntologies(CurationUtil.configListtoLowerCase(project.getOntologies())); + project.setDatasources(CurationUtil.configListtoLowerCase(project.getDatasources())); + project.setPreferredMappingOntologies(CurationUtil.listToLowerCase(project.getPreferredMappingOntologies())); long sTime = System.currentTimeMillis(); Stream entityStream = entityService.retrieveEntitiesForSource(sourceId); @@ -69,15 +70,18 @@ public void runMatchmaking(String sourceId, Project project) { } private void autoMap(Entity entity, Project project, User user) { + List projectDatasources = CurationUtil.configForField(entity, project.getDatasources()); + List projectOntologies = CurationUtil.configForField(entity, project.getOntologies()); + /** * Retrieve annotations from Zooma from datasources stored in the project */ - List zoomaResults = zoomaService.annotate(entity.getName(), project.getDatasources(), null); + List zoomaResults = zoomaService.annotate(entity.getName(), projectDatasources, null); /** * Retrieve annotations from Zooma from ontologies stored in the project */ - zoomaResults.addAll(zoomaService.annotate(entity.getName(), null, project.getOntologies())); + zoomaResults.addAll(zoomaService.annotate(entity.getName(), null, projectOntologies)); List highConfidenceIRIs = new ArrayList<>(); Set finalIRIs = new HashSet<>(); @@ -98,8 +102,8 @@ private void autoMap(Entity entity, Project project, User user) { /** * Retain only suggestions pertaining to the ontologies of interest (if these have been specified) */ - if (project.getOntologies() != null) { - if (project.getOntologies().contains(CurationUtil.ontoFromIRI(suggestedTermIRI).toLowerCase())) { + if (projectOntologies != null) { + if (projectOntologies.contains(CurationUtil.ontoFromIRI(suggestedTermIRI).toLowerCase())) { finalIRIs.add(suggestedTermIRI); } } else { @@ -171,7 +175,8 @@ private List findExactMapping(Entity entity, List te /** * TODO: Discuss why are so many calls to OLS required */ - List oxoMappings = oxoService.findMapping(Arrays.asList(new String[]{olsTerms.get(0).getCurie()}), project.getOntologies()); + List oxoMappings = oxoService.findMapping(Arrays.asList(new String[]{olsTerms.get(0).getCurie()}), + CurationUtil.configForField(entity, project.getOntologies())); for (OXOMappingResponseDto oxoMappingResponseDto : oxoMappings) { String targetOntoId = oxoMappingResponseDto.getTargetPrefix().toLowerCase(); olsTerms = olsService.retrieveTerms(targetOntoId, oxoMappingResponseDto.getCurie()); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java index 4f21016..ec14c3d 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java @@ -7,8 +7,8 @@ import org.springframework.beans.factory.annotation.Autowired; import org.springframework.stereotype.Service; import uk.ac.ebi.spot.ontotools.curation.constants.TermStatus; -import uk.ac.ebi.spot.ontotools.curation.domain.OntologyTerm; -import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.exception.EntityNotFoundException; import uk.ac.ebi.spot.ontotools.curation.repository.OntologyTermRepository; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSTermDto; @@ -52,11 +52,14 @@ public OntologyTerm createTerm(String iri, Project project) { return ontologyTermOp.get(); } - List preferredOntoResponse = olsService.retrieveTerms(project.getPreferredMappingOntology(), iri); + List preferredOntoResponse = new ArrayList<>(); + for (String preferredOntology : project.getPreferredMappingOntologies()) { + preferredOntoResponse.addAll(olsService.retrieveTerms(preferredOntology, iri)); + } List parentOntoResponse = new ArrayList<>(); String ontoId = CurationUtil.ontoFromIRI(iri); String termStatus; - if (!ontoId.equalsIgnoreCase(project.getPreferredMappingOntology())) { + if (!project.getPreferredMappingOntologies().contains(ontoId.toLowerCase())) { parentOntoResponse = olsService.retrieveTerms(ontoId, iri); termStatus = parseStatus(preferredOntoResponse, parentOntoResponse, null); } else { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java index a4845ff..03afaa2 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java @@ -5,7 +5,7 @@ import org.springframework.beans.factory.annotation.Autowired; import org.springframework.stereotype.Service; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; -import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.domain.auth.Role; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.exception.AuthorizationException; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java index 22b7aa3..66ccb0f 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java @@ -1,6 +1,8 @@ package uk.ac.ebi.spot.ontotools.curation.util; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; +import uk.ac.ebi.spot.ontotools.curation.domain.config.ProjectMappingConfig; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import java.util.ArrayList; import java.util.HashMap; @@ -18,7 +20,7 @@ public static List rolesFromStringList(List list) { return projectRoles; } - public static List toLowerCase(List list) { + public static List listToLowerCase(List list) { if (list == null) { return null; } @@ -67,4 +69,39 @@ public static Map parseAliases(List aliasList) { } return map; } + + public static List configListtoLowerCase(List projectMappingConfigs) { + List result = new ArrayList<>(); + for (ProjectMappingConfig projectMappingConfig : projectMappingConfigs) { + result.add(new ProjectMappingConfig(projectMappingConfig.getField().toLowerCase(), listToLowerCase(projectMappingConfig.getMappingList()))); + } + return result; + } + + public static List configForField(Entity entity, List projectMappingConfigs) { + if (entity.getBaseField() == null) { + for (ProjectMappingConfig projectMappingConfig : projectMappingConfigs) { + if (projectMappingConfig.getField().equalsIgnoreCase(ProjectMappingConfig.ALL)) { + return projectMappingConfig.getMappingList(); + } + } + + if (!projectMappingConfigs.isEmpty()) { + return projectMappingConfigs.get(0).getMappingList(); + } + } else { + for (ProjectMappingConfig projectMappingConfig : projectMappingConfigs) { + if (projectMappingConfig.getField().equalsIgnoreCase(entity.getBaseField())) { + return projectMappingConfig.getMappingList(); + } + } + for (ProjectMappingConfig projectMappingConfig : projectMappingConfigs) { + if (projectMappingConfig.getField().equalsIgnoreCase(ProjectMappingConfig.ALL)) { + return projectMappingConfig.getMappingList(); + } + } + } + + return new ArrayList<>(); + } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java index 7f57e9e..8f1a78c 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java @@ -9,7 +9,7 @@ import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; -import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.rest.dto.*; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingSuggestionDto; import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index 22228f3..9a99a5f 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -21,18 +21,20 @@ import org.springframework.test.web.servlet.setup.MockMvcBuilders; import org.springframework.web.context.WebApplicationContext; import uk.ac.ebi.spot.ontotools.curation.constants.*; -import uk.ac.ebi.spot.ontotools.curation.domain.*; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.auth.AuthToken; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.MappingSuggestion; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.repository.*; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectCreationDto; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceCreationDto; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.*; import uk.ac.ebi.spot.ontotools.curation.service.MatchmakerService; import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; import java.util.ArrayList; +import java.util.Arrays; import java.util.List; import static org.junit.Assert.*; @@ -119,7 +121,12 @@ protected ProjectDto createProject(String name, String token, List datasources, List ontologies, String preferredMappingOntology) throws Exception { String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS; - ProjectCreationDto projectCreationDto = new ProjectCreationDto(name, "Description", datasources, ontologies, preferredMappingOntology); + + + ProjectCreationDto projectCreationDto = new ProjectCreationDto(name, "Description", + datasources != null ? Arrays.asList(new ProjectMappingConfigDto[]{new ProjectMappingConfigDto("ALL", datasources)}) : new ArrayList<>(), + ontologies != null ? Arrays.asList(new ProjectMappingConfigDto[]{new ProjectMappingConfigDto("ALL", ontologies)}) : new ArrayList<>(), + preferredMappingOntology != null ? Arrays.asList(new String[]{preferredMappingOntology}) : new ArrayList<>()); String response = mockMvc.perform(post(endpoint) .contentType(MediaType.APPLICATION_JSON) @@ -139,15 +146,19 @@ protected ProjectDto createProject(String name, String token, if (datasources == null) { assertTrue(actual.getDatasources().isEmpty()); } else { - assertEquals(datasources.size(), actual.getDatasources().size()); + assertEquals(1, actual.getDatasources().size()); + assertEquals("ALL", actual.getDatasources().get(0).getField()); + assertEquals(datasources.size(), actual.getDatasources().get(0).getMappingList().size()); } if (ontologies == null) { assertTrue(actual.getOntologies().isEmpty()); } else { - assertEquals(ontologies.size(), actual.getOntologies().size()); + assertEquals(1, actual.getOntologies().size()); + assertEquals("ALL", actual.getOntologies().get(0).getField()); + assertEquals(ontologies.size(), actual.getOntologies().get(0).getMappingList().size()); } if (preferredMappingOntology != null) { - assertEquals(preferredMappingOntology, actual.getPreferredMappingOntology()); + assertEquals(preferredMappingOntology, actual.getPreferredMappingOntologies().get(0)); } return actual; } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java index 9933474..e069b5e 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java @@ -9,7 +9,7 @@ import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; -import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.rest.dto.EntityDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java index b50e223..555292a 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java @@ -9,7 +9,12 @@ import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; import uk.ac.ebi.spot.ontotools.curation.constants.TermStatus; import uk.ac.ebi.spot.ontotools.curation.domain.*; -import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.config.ExternalServiceConfig; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.MappingSuggestion; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.repository.ExternalServiceConfigRepository; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OXOServiceTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OXOServiceTest.java index 25a2303..ce660bd 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OXOServiceTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OXOServiceTest.java @@ -2,7 +2,7 @@ import org.junit.Test; import org.springframework.beans.factory.annotation.Autowired; -import uk.ac.ebi.spot.ontotools.curation.domain.ExternalServiceConfig; +import uk.ac.ebi.spot.ontotools.curation.domain.config.ExternalServiceConfig; import uk.ac.ebi.spot.ontotools.curation.rest.dto.oxo.OXOMappingResponseDto; import uk.ac.ebi.spot.ontotools.curation.service.ConfigRegistry; import uk.ac.ebi.spot.ontotools.curation.service.OXOService; diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntologyTermControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntologyTermControllerTest.java index 2983be9..acd6b38 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntologyTermControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntologyTermControllerTest.java @@ -8,7 +8,7 @@ import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; import uk.ac.ebi.spot.ontotools.curation.constants.TermStatus; -import uk.ac.ebi.spot.ontotools.curation.domain.auth.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.OntologyTermDto; import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/PlatformAdminControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/PlatformAdminControllerTest.java index f669c8a..2e811e4 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/PlatformAdminControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/PlatformAdminControllerTest.java @@ -6,7 +6,7 @@ import org.springframework.http.MediaType; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; -import uk.ac.ebi.spot.ontotools.curation.domain.ExternalServiceConfig; +import uk.ac.ebi.spot.ontotools.curation.domain.config.ExternalServiceConfig; import uk.ac.ebi.spot.ontotools.curation.repository.ExternalServiceConfigRepository; import uk.ac.ebi.spot.ontotools.curation.rest.dto.config.ExternalServiceConfigDto; import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java index d442924..cd7d2bf 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java @@ -6,6 +6,7 @@ import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectMappingConfigDto; import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; import java.util.Arrays; @@ -81,9 +82,9 @@ public void shouldUpdateProject() throws Exception { ProjectDto updatedProject = new ProjectDto(projectDto.getId(), "New Name", projectDto.getDescription(), - Arrays.asList(new String[]{"gwas"}), - Arrays.asList(new String[]{"ordo"}), - projectDto.getPreferredMappingOntology(), + Arrays.asList(new ProjectMappingConfigDto[]{new ProjectMappingConfigDto("ALL", Arrays.asList(new String[]{"gwas"}))}), + Arrays.asList(new ProjectMappingConfigDto[]{new ProjectMappingConfigDto("ALL", Arrays.asList(new String[]{"ordo"}))}), + projectDto.getPreferredMappingOntologies(), projectDto.getCreated()); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); @@ -113,9 +114,9 @@ public void shouldNotUpdateProject() throws Exception { ProjectDto updatedProject = new ProjectDto(projectDto.getId(), "New Name", projectDto.getDescription(), - Arrays.asList(new String[]{"gwas"}), - Arrays.asList(new String[]{"ordo"}), - projectDto.getPreferredMappingOntology(), + Arrays.asList(new ProjectMappingConfigDto[]{new ProjectMappingConfigDto("ALL", Arrays.asList(new String[]{"gwas"}))}), + Arrays.asList(new ProjectMappingConfigDto[]{new ProjectMappingConfigDto("ALL", Arrays.asList(new String[]{"ordo"}))}), + projectDto.getPreferredMappingOntologies(), projectDto.getCreated()); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectMappingConfigDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectMappingConfigDtoTest.java new file mode 100644 index 0000000..f72b015 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectMappingConfigDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class ProjectMappingConfigDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(ProjectMappingConfigDto.class) + .verify(); + } + +} \ No newline at end of file From 7172a8df0cdc6d768de2ec89a9022b2933c41565 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Thu, 18 Feb 2021 22:37:06 +0800 Subject: [PATCH 18/72] Added Reviews endpoints to mappings. --- .../curation/constants/CurationConstants.java | 2 + .../controller/MappingReviewsController.java | 76 ++++++++++++ .../curation/service/MappingService.java | 6 +- .../service/impl/MappingServiceImpl.java | 33 +++++- .../ontotools/curation/IntegrationTest.java | 18 +++ .../MappingReviewsControllerTest.java | 111 ++++++++++++++++++ .../curation/MappingsControllerTest.java | 20 +--- 7 files changed, 246 insertions(+), 20 deletions(-) create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingReviewsController.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java index 138a6b0..738f8b7 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java @@ -18,6 +18,8 @@ public class CurationConstants { public static final String API_USERS = "/users"; + public static final String API_REVIEWS = "/reviews"; + public static final String API_COMMENTS = "/comments"; public static final String PARAM_ENTITY_ID = "entityId"; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingReviewsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingReviewsController.java new file mode 100644 index 0000000..3acd353 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingReviewsController.java @@ -0,0 +1,76 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.controller; + +import org.joda.time.DateTime; +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.http.HttpStatus; +import org.springframework.http.MediaType; +import org.springframework.web.bind.annotation.*; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; +import uk.ac.ebi.spot.ontotools.curation.rest.assembler.ReviewDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.ReviewDto; +import uk.ac.ebi.spot.ontotools.curation.service.JWTService; +import uk.ac.ebi.spot.ontotools.curation.service.MappingService; +import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; +import uk.ac.ebi.spot.ontotools.curation.util.HeadersUtil; + +import javax.servlet.http.HttpServletRequest; +import javax.validation.constraints.NotEmpty; +import java.util.ArrayList; +import java.util.Arrays; +import java.util.List; +import java.util.stream.Collectors; + +@RestController +@RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) +public class MappingReviewsController { + + private static final Logger log = LoggerFactory.getLogger(MappingReviewsController.class); + + @Autowired + private JWTService jwtService; + + @Autowired + private ProjectService projectService; + + @Autowired + private MappingService mappingService; + + /** + * POST /v1/projects/{projectId}/mappings/{mappingId}/reviews + */ + @PostMapping(value = "/{projectId}" + CurationConstants.API_MAPPINGS + "/{mappingId}" + CurationConstants.API_REVIEWS, + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.CREATED) + public ReviewDto createReview(@PathVariable String projectId, @PathVariable String mappingId, + @RequestBody @NotEmpty String comment, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to create review on mapping: {} | {}", user.getEmail(), projectId, mappingId); + projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR})); + + Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); + Mapping mapping = mappingService.addReviewToMapping(mappingId, comment, provenance); + return ReviewDtoAssembler.assemble(mapping.getReviews().get(mapping.getReviews().size() - 1)); + } + + /** + * GET /v1/projects/{projectId}/mappings/{mappingId}/reviews + */ + @GetMapping(value = "/{projectId}" + CurationConstants.API_MAPPINGS + "/{mappingId}" + CurationConstants.API_REVIEWS, + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.OK) + public List retrieveReviews(@PathVariable String projectId, @PathVariable String mappingId, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to retrieve reviews for mapping: {} | {}", user.getEmail(), projectId, mappingId); + projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR})); + + Mapping mapping = mappingService.retrieveMappingById(mappingId); + return mapping.getReviews() != null ? mapping.getReviews().stream().map(ReviewDtoAssembler::assemble).collect(Collectors.toList()) : new ArrayList<>(); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java index c72bb10..7948840 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java @@ -1,9 +1,9 @@ package uk.ac.ebi.spot.ontotools.curation.service; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; -import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import java.util.List; import java.util.Map; @@ -17,4 +17,8 @@ public interface MappingService { List retrieveMappingsForEntity(String entityId); List deleteMappingExcluding(Entity entity, String ontologyTermId); + + Mapping addReviewToMapping(String mappingId, String comment, Provenance provenance); + + Mapping retrieveMappingById(String mappingId); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java index 06e3339..039c76b 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java @@ -5,10 +5,12 @@ import org.springframework.beans.factory.annotation.Autowired; import org.springframework.stereotype.Service; import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; +import uk.ac.ebi.spot.ontotools.curation.domain.Review; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; -import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; +import uk.ac.ebi.spot.ontotools.curation.exception.EntityNotFoundException; import uk.ac.ebi.spot.ontotools.curation.repository.MappingRepository; import uk.ac.ebi.spot.ontotools.curation.service.MappingService; import uk.ac.ebi.spot.ontotools.curation.service.OntologyTermService; @@ -84,6 +86,10 @@ public List retrieveMappingsForEntity(String entityId) { @Override public List deleteMappingExcluding(Entity entity, String ontologyTermId) { log.info("Deleting mappings for entity [{}] excluding ontology term: {}", entity.getId(), ontologyTermId); + /** + * TODO: Archive the reviews associated with the previous mappings so that they can be restored if need be at a later time. + */ + List mappings = mappingRepository.findByEntityId(entity.getId()); List result = new ArrayList<>(); for (Mapping mapping : mappings) { @@ -94,4 +100,29 @@ public List deleteMappingExcluding(Entity entity, String ontologyTermId) } return result; } + + @Override + public Mapping addReviewToMapping(String mappingId, String comment, Provenance provenance) { + log.info("Adding review to mapping: {}", mappingId); + Optional mappingOp = mappingRepository.findById(mappingId); + if (!mappingOp.isPresent()) { + log.error("Mapping not found: {}", mappingId); + throw new EntityNotFoundException("Mapping not found: " + mappingId); + } + Mapping mapping = mappingOp.get(); + mapping.addReview(new Review(comment, provenance)); + mapping = mappingRepository.save(mapping); + return mapping; + } + + @Override + public Mapping retrieveMappingById(String mappingId) { + log.info("Retrieving mapping: {}", mappingId); + Optional mappingOp = mappingRepository.findById(mappingId); + if (!mappingOp.isPresent()) { + log.error("Mapping not found: {}", mappingId); + throw new EntityNotFoundException("Mapping not found: " + mappingId); + } + return mappingOp.get(); + } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index 9a99a5f..0690627 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -39,6 +39,7 @@ import static org.junit.Assert.*; import static org.mockito.Mockito.mock; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.get; import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.post; import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; @@ -202,4 +203,21 @@ protected void createEntityTestData(String sourceId, User user) { mappingSuggestionRepository.insert(new MappingSuggestion(null, entity.getId(), mondoTerm.getId(), provenance, null)); mappingRepository.insert(new Mapping(null, entity.getId(), orphaTerm.getId(), false, new ArrayList<>(), MappingStatus.AWAITING_REVIEW.name(), provenance, null)); } + + protected EntityDto retrieveEntity(String projectId) throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectId + CurationConstants.API_MAPPINGS + + "?entityId=" + entity.getId(); + String response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + EntityDto actual = mapper.readValue(response, new TypeReference() { + }); + return actual; + } + } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java new file mode 100644 index 0000000..af2b82b --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java @@ -0,0 +1,111 @@ +package uk.ac.ebi.spot.ontotools.curation; + +import com.fasterxml.jackson.core.type.TypeReference; +import org.junit.Test; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.http.MediaType; +import org.springframework.test.context.ContextConfiguration; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; +import uk.ac.ebi.spot.ontotools.curation.rest.assembler.ProvenanceDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.EntityDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.ReviewDto; +import uk.ac.ebi.spot.ontotools.curation.service.MappingService; +import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; +import uk.ac.ebi.spot.ontotools.curation.service.UserService; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; + +import java.util.Arrays; +import java.util.List; + +import static org.junit.Assert.assertEquals; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.get; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.post; +import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; + +@ContextConfiguration(classes = {IntegrationTest.MockTaskExecutorConfig.class}) +public class MappingReviewsControllerTest extends IntegrationTest { + + @Autowired + private UserService userService; + + @Autowired + private ProjectService projectService; + + @Autowired + private MappingService mappingService; + + private Project project; + + private SourceDto sourceDto; + + @Override + public void setup() throws Exception { + super.setup(); + List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); + List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); + ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo"); + user1 = userService.findByEmail(user1.getEmail()); + project = projectService.retrieveProject(projectDto.getId(), user1); + sourceDto = super.createSource(project.getId()); + + super.createEntityTestData(sourceDto.getId(), user1); + } + + /** + * POST /v1/projects/{projectId}/mappings/{mappingId}/reviews + */ + @Test + public void shouldCreateReview() throws Exception { + EntityDto actual = super.retrieveEntity(project.getId()); + MappingDto mappingDto = actual.getMappings().get(0); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId() + CurationConstants.API_REVIEWS; + String response = mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content("New review") + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isCreated()) + .andReturn() + .getResponse() + .getContentAsString(); + + ReviewDto reviewDto = mapper.readValue(response, new TypeReference() { + }); + assertEquals("New review", reviewDto.getComment()); + Mapping mapping = mappingService.retrieveMappingById(mappingDto.getId()); + assertEquals(1, mapping.getReviews().size()); + assertEquals("New review", mapping.getReviews().get(0).getComment()); + } + + /** + * GET /v1/projects/{projectId}/mappings/{mappingId}/reviews + */ + @Test + public void shouldGetReviews() throws Exception { + EntityDto actual = super.retrieveEntity(project.getId()); + MappingDto mappingDto = actual.getMappings().get(0); + mappingService.addReviewToMapping(mappingDto.getId(), "New review", ProvenanceDtoAssembler.disassemble(mappingDto.getCreated())); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId() + CurationConstants.API_REVIEWS; + String response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + List reviewDtos = mapper.readValue(response, new TypeReference>() { + }); + assertEquals(1, reviewDtos.size()); + assertEquals("New review", reviewDtos.get(0).getComment()); + } +} diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java index e069b5e..fb176d3 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java @@ -25,7 +25,6 @@ import static org.junit.Assert.assertEquals; import static org.junit.Assert.assertNotNull; -import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.get; import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.post; import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; @@ -60,7 +59,7 @@ public void setup() throws Exception { */ @Test public void shouldGetMappings() throws Exception { - EntityDto actual = retrieveEntity(); + EntityDto actual = super.retrieveEntity(project.getId()); assertEquals("Achondroplasia", actual.getName()); assertEquals(EntityStatus.AUTO_MAPPED.name(), actual.getMappingStatus()); @@ -88,7 +87,7 @@ public void shouldGetMappings() throws Exception { */ @Test public void shouldCreateMapping() throws Exception { - EntityDto entityDto = retrieveEntity(); + EntityDto entityDto = super.retrieveEntity(project.getId()); OntologyTermDto ontologyTermDto = null; for (MappingSuggestionDto mappingSuggestionDto : entityDto.getMappingSuggestions()) { if (mappingSuggestionDto.getOntologyTerm().getCurie().equalsIgnoreCase("MONDO:0007037")) { @@ -134,19 +133,4 @@ public void shouldCreateMapping() throws Exception { assertEquals(sourceDto.getId(), actual.getSource().getId()); } - private EntityDto retrieveEntity() throws Exception { - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS - + "?entityId=" + super.entity.getId(); - String response = mockMvc.perform(get(endpoint) - .contentType(MediaType.APPLICATION_JSON) - .header(IDPConstants.JWT_TOKEN, "token1")) - .andExpect(status().isOk()) - .andReturn() - .getResponse() - .getContentAsString(); - - EntityDto actual = mapper.readValue(response, new TypeReference() { - }); - return actual; - } } From bea7cfbcdd6a1ad69fc3dabb496c602d3a9c54c0 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Mon, 22 Feb 2021 20:35:24 +0800 Subject: [PATCH 19/72] Made mappings and mappingSuggestions project dependent. --- .../spot/ontotools/curation/domain/mapping/Entity.java | 3 +++ .../ontotools/curation/domain/mapping/Mapping.java | 3 +++ .../curation/domain/mapping/MappingSuggestion.java | 3 +++ .../curation/repository/EntityRepository.java | 3 +-- .../curation/rest/controller/EntityController.java | 6 +++--- .../curation/rest/controller/SourcesController.java | 6 +++--- .../spot/ontotools/curation/service/EntityService.java | 2 +- .../curation/service/impl/DataImportServiceImpl.java | 2 +- .../curation/service/impl/EntityServiceImpl.java | 10 +++------- .../curation/service/impl/MappingServiceImpl.java | 3 ++- .../service/impl/MappingSuggestionsServiceImpl.java | 2 +- .../spot/ontotools/curation/EntityControllerTest.java | 2 +- .../ebi/spot/ontotools/curation/IntegrationTest.java | 10 +++++----- .../curation/MappingReviewsControllerTest.java | 2 +- .../ontotools/curation/MappingsControllerTest.java | 2 +- .../ebi/spot/ontotools/curation/MatchMakingTest.java | 2 +- 16 files changed, 33 insertions(+), 28 deletions(-) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Entity.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Entity.java index fa550bf..d3995bb 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Entity.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Entity.java @@ -29,6 +29,9 @@ public class Entity { @Indexed private String sourceId; + @Indexed + private String projectId; + private Provenance created; private EntityStatus mappingStatus; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java index f87a9c9..8587fe3 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java @@ -34,6 +34,9 @@ public class Mapping { @Indexed private String ontologyTermId; + @Indexed + private String projectId; + @Indexed private boolean reviewed; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/MappingSuggestion.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/MappingSuggestion.java index fea5c98..7b5fc3a 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/MappingSuggestion.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/MappingSuggestion.java @@ -29,6 +29,9 @@ public class MappingSuggestion { @Indexed private String ontologyTermId; + @Indexed + private String projectId; + private Provenance created; @Transient diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java index c201e71..27924db 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java @@ -5,12 +5,11 @@ import org.springframework.data.mongodb.repository.MongoRepository; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; -import java.util.List; import java.util.stream.Stream; public interface EntityRepository extends MongoRepository { Stream readBySourceId(String sourceId); - Page findBySourceIdIn(List sourceIds, Pageable page); + Page findByProjectId(String projectId, Pageable page); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java index 2ac203e..99217c3 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java @@ -11,11 +11,11 @@ import org.springframework.web.bind.annotation.*; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; +import uk.ac.ebi.spot.ontotools.curation.domain.Source; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.MappingSuggestion; -import uk.ac.ebi.spot.ontotools.curation.domain.Source; -import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.rest.assembler.EntityDtoAssembler; import uk.ac.ebi.spot.ontotools.curation.rest.assembler.SourceDtoAssembler; import uk.ac.ebi.spot.ontotools.curation.rest.dto.EntityDto; @@ -69,7 +69,7 @@ public RestResponsePage getEntities(@PathVariable String projectId, @ sourceMap.put(source.getId(), SourceDtoAssembler.assemble(source)); } - Page entities = entityService.retrieveEntitiesForSources(sources, pageable); + Page entities = entityService.retrieveEntitiesForProject(projectId, pageable); List entityIds = entities.get().map(Entity::getId).collect(Collectors.toList()); Map> mappings = mappingService.retrieveMappingsForEntities(entityIds); Map> mappingSuggestions = mappingSuggestionsService.retrieveMappingSuggestionsForEntities(entityIds); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java index e78aca8..2579fe0 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java @@ -12,10 +12,10 @@ import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; -import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.Source; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.rest.assembler.SourceDtoAssembler; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceCreationDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; @@ -110,8 +110,8 @@ public void addDataToSource(@RequestBody List entities, @PathVariable St projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR})); Source source = sourceService.getSource(sourceId, projectId); for (String entity : entities) { - entityService.createEntity(new Entity(null, entity, null, null, - source.getId(), new Provenance(user.getName(), user.getEmail(), DateTime.now()), EntityStatus.UNMAPPED)); + entityService.createEntity(new Entity(null, entity, null, null, source.getId(), + projectId, new Provenance(user.getName(), user.getEmail(), DateTime.now()), EntityStatus.UNMAPPED)); } matchmakerService.runMatchmaking(sourceId, projectService.retrieveProject(projectId, user)); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java index d0c5ee9..b32f261 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java @@ -17,7 +17,7 @@ public interface EntityService { Entity updateMappingStatus(Entity entity, EntityStatus mappingStatus); - Page retrieveEntitiesForSources(List sources, Pageable page); + Page retrieveEntitiesForProject(String projectId, Pageable page); Entity retrieveEntity(String entityId); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java index cc8ce13..d252dbf 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java @@ -60,7 +60,7 @@ public void importData(String fileData, String projectId, String sourceId, User int count = 0; for (ImportDataElementDto importDataElementDto : importDataPackageDto.getData()) { entityService.createEntity(new Entity(null, importDataElementDto.getText(), importDataElementDto.getBaseId(), importDataElementDto.getBaseField(), - sourceId, provenance, EntityStatus.UNMAPPED)); + sourceId, projectId, provenance, EntityStatus.UNMAPPED)); count++; if (count % 100 == 0) { log.info(" -- [{} | {}] Progress: {} of {}", projectId, sourceId, count, importDataPackageDto.getData().size()); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java index 09b9860..6851a53 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java @@ -8,14 +8,11 @@ import org.springframework.stereotype.Service; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; -import uk.ac.ebi.spot.ontotools.curation.domain.Source; import uk.ac.ebi.spot.ontotools.curation.exception.EntityNotFoundException; import uk.ac.ebi.spot.ontotools.curation.repository.EntityRepository; import uk.ac.ebi.spot.ontotools.curation.service.EntityService; -import java.util.List; import java.util.Optional; -import java.util.stream.Collectors; import java.util.stream.Stream; @Service @@ -55,10 +52,9 @@ public Entity updateMappingStatus(Entity entity, EntityStatus mappingStatus) { } @Override - public Page retrieveEntitiesForSources(List sources, Pageable page) { - log.debug("Retrieving entities for {} sources: {} | {}", sources.size(), page.getPageNumber(), page.getPageSize()); - List sourceIds = sources.stream().map(Source::getId).collect(Collectors.toList()); - Page entityPage = entityRepository.findBySourceIdIn(sourceIds, page); + public Page retrieveEntitiesForProject(String projectId, Pageable page) { + log.debug("Retrieving entities for {} sources: {} | {}", projectId, page.getPageNumber(), page.getPageSize()); + Page entityPage = entityRepository.findByProjectId(projectId, page); log.debug("Found {} entities.", entityPage.getContent().size()); return entityPage; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java index 039c76b..3913eb7 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java @@ -38,7 +38,8 @@ public Mapping createMapping(Entity entity, OntologyTerm ontologyTerm, Provenanc return mappingOp.get(); } - Mapping created = mappingRepository.insert(new Mapping(null, entity.getId(), ontologyTerm.getId(), false, new ArrayList<>(), MappingStatus.AWAITING_REVIEW.name(), provenance, null)); + Mapping created = mappingRepository.insert(new Mapping(null, entity.getId(), ontologyTerm.getId(), entity.getProjectId(), + false, new ArrayList<>(), MappingStatus.AWAITING_REVIEW.name(), provenance, null)); log.info("Mapping for between entity [{}] and ontology term [{}] created: {}", entity.getName(), ontologyTerm.getCurie(), created.getId()); return created; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java index b6b5c5e..8e82cbd 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java @@ -36,7 +36,7 @@ public MappingSuggestion createMappingSuggestion(Entity entity, OntologyTerm ont return mappingSuggestionOp.get(); } - MappingSuggestion created = mappingSuggestionRepository.insert(new MappingSuggestion(null, entity.getId(), ontologyTerm.getId(), provenance, null)); + MappingSuggestion created = mappingSuggestionRepository.insert(new MappingSuggestion(null, entity.getId(), ontologyTerm.getId(), entity.getProjectId(), provenance, null)); log.info("[{} | {}] Mapping suggestion created: {}", entity.getName(), ontologyTerm.getCurie(), created.getId()); return created; } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java index 8f1a78c..94680a4 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java @@ -46,7 +46,7 @@ public void setup() throws Exception { project = projectService.retrieveProject(projectDto.getId(), user1); sourceDto = super.createSource(project.getId()); - super.createEntityTestData(sourceDto.getId(), user1); + super.createEntityTestData(sourceDto.getId(), project.getId(), user1); } /** diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index 0690627..3bb8210 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -188,10 +188,10 @@ protected SourceDto createSource(String projectId) throws Exception { return actual; } - protected void createEntityTestData(String sourceId, User user) { + protected void createEntityTestData(String sourceId, String projectId, User user) { Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); entity = entityRepository.insert(new Entity(null, "Achondroplasia", RandomStringUtils.randomAlphabetic(10), - RandomStringUtils.randomAlphabetic(10), sourceId, provenance, EntityStatus.AUTO_MAPPED)); + RandomStringUtils.randomAlphabetic(10), sourceId, projectId, provenance, EntityStatus.AUTO_MAPPED)); OntologyTerm orphaTerm = ontologyTermRepository.insert(new OntologyTerm(null, "Orphanet:15", "http://www.orpha.net/ORDO/Orphanet_15", DigestUtils.sha256Hex("http://www.orpha.net/ORDO/Orphanet_15"), "Achondroplasia", TermStatus.CURRENT.name(), null, null)); @@ -199,9 +199,9 @@ protected void createEntityTestData(String sourceId, User user) { OntologyTerm mondoTerm = ontologyTermRepository.insert(new OntologyTerm(null, "MONDO:0007037", "http://purl.obolibrary.org/obo/MONDO_0007037", DigestUtils.sha256Hex("http://purl.obolibrary.org/obo/MONDO_0007037"), "Achondroplasia", TermStatus.NEEDS_IMPORT.name(), null, null)); - mappingSuggestionRepository.insert(new MappingSuggestion(null, entity.getId(), orphaTerm.getId(), provenance, null)); - mappingSuggestionRepository.insert(new MappingSuggestion(null, entity.getId(), mondoTerm.getId(), provenance, null)); - mappingRepository.insert(new Mapping(null, entity.getId(), orphaTerm.getId(), false, new ArrayList<>(), MappingStatus.AWAITING_REVIEW.name(), provenance, null)); + mappingSuggestionRepository.insert(new MappingSuggestion(null, entity.getId(), orphaTerm.getId(), projectId, provenance, null)); + mappingSuggestionRepository.insert(new MappingSuggestion(null, entity.getId(), mondoTerm.getId(), projectId, provenance, null)); + mappingRepository.insert(new Mapping(null, entity.getId(), orphaTerm.getId(), projectId, false, new ArrayList<>(), MappingStatus.AWAITING_REVIEW.name(), provenance, null)); } protected EntityDto retrieveEntity(String projectId) throws Exception { diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java index af2b82b..1c9fcd0 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java @@ -54,7 +54,7 @@ public void setup() throws Exception { project = projectService.retrieveProject(projectDto.getId(), user1); sourceDto = super.createSource(project.getId()); - super.createEntityTestData(sourceDto.getId(), user1); + super.createEntityTestData(sourceDto.getId(), project.getId(), user1); } /** diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java index fb176d3..bfb6c92 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java @@ -51,7 +51,7 @@ public void setup() throws Exception { project = projectService.retrieveProject(projectDto.getId(), user1); sourceDto = super.createSource(project.getId()); - super.createEntityTestData(sourceDto.getId(), user1); + super.createEntityTestData(sourceDto.getId(), project.getId(), user1); } /** diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java index 555292a..e647ba5 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java @@ -82,7 +82,7 @@ public void setup() throws Exception { * - Retinal dystrophy */ entity = entityService.createEntity(new Entity(null, "Achondroplasia", RandomStringUtils.randomAlphabetic(10), - RandomStringUtils.randomAlphabetic(10), sourceDto.getId(), provenance, EntityStatus.UNMAPPED)); + RandomStringUtils.randomAlphabetic(10), sourceDto.getId(), project.getId(), provenance, EntityStatus.UNMAPPED)); } @Test From 51ec76ad63b51b290b45d05c77ed9837f18b8566 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Mon, 22 Feb 2021 21:23:34 +0800 Subject: [PATCH 20/72] Fixed mapping status assignment. --- .../ac/ebi/spot/ontotools/curation/constants/MappingStatus.java | 2 +- .../ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java | 2 ++ .../ontotools/curation/service/impl/MappingServiceImpl.java | 1 + 3 files changed, 4 insertions(+), 1 deletion(-) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/MappingStatus.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/MappingStatus.java index cb8a581..5bf8e8f 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/MappingStatus.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/MappingStatus.java @@ -4,6 +4,6 @@ public enum MappingStatus { AWAITING_REVIEW, REVIEW_IN_PROGRESS, - FINALIZED + REQUIRED_REVIEWS_REACHED } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java index 8587fe3..648e1e7 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java @@ -11,6 +11,7 @@ import org.springframework.data.mongodb.core.index.Indexed; import org.springframework.data.mongodb.core.mapping.Document; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.Review; @@ -56,6 +57,7 @@ public void addReview(Review review) { this.reviews.add(review); if (this.reviews.size() >= CurationConstants.NO_REVIEWS_REQUIRED) { this.reviewed = true; + this.status = MappingStatus.REQUIRED_REVIEWS_REACHED.name(); } } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java index 3913eb7..1fe1438 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java @@ -111,6 +111,7 @@ public Mapping addReviewToMapping(String mappingId, String comment, Provenance p throw new EntityNotFoundException("Mapping not found: " + mappingId); } Mapping mapping = mappingOp.get(); + mapping.setStatus(MappingStatus.REVIEW_IN_PROGRESS.name()); mapping.addReview(new Review(comment, provenance)); mapping = mappingRepository.save(mapping); return mapping; From b841924c39c794e542bb9d01ba6a2daa39a05dd2 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Mon, 22 Feb 2021 22:20:21 +0800 Subject: [PATCH 21/72] Added comments functionality. --- .../curation/domain/mapping/Comment.java | 23 +--- .../curation/domain/mapping/Mapping.java | 2 + .../rest/assembler/CommentDtoAssembler.java | 11 ++ .../rest/assembler/MappingDtoAssembler.java | 1 + .../controller/MappingCommentsController.java | 76 ++++++++++++ .../controller/MappingReviewsController.java | 3 +- .../curation/rest/dto/mapping/CommentDto.java | 40 +++++++ .../curation/rest/dto/mapping/MappingDto.java | 9 ++ .../curation/rest/dto/mapping/ReviewDto.java | 5 +- .../curation/service/MappingService.java | 2 + .../service/impl/MappingServiceImpl.java | 20 +++- .../ontotools/curation/IntegrationTest.java | 2 +- .../MappingCommentsControllerTest.java | 111 ++++++++++++++++++ .../MappingReviewsControllerTest.java | 32 ++++- 14 files changed, 309 insertions(+), 28 deletions(-) create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/CommentDtoAssembler.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingCommentsController.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/CommentDto.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingCommentsControllerTest.java diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Comment.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Comment.java index e6d6dce..a74b98d 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Comment.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Comment.java @@ -1,32 +1,15 @@ package uk.ac.ebi.spot.ontotools.curation.domain.mapping; +import lombok.AllArgsConstructor; import lombok.Getter; -import lombok.Setter; -import org.springframework.data.annotation.Id; -import org.springframework.data.mongodb.core.mapping.Document; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; -@Document(collection = "comments") @Getter -@Setter +@AllArgsConstructor public class Comment { - @Id - private String id; - - private String mappedTraitId; - - private Provenance created; - private String body; - public Comment() { - - } + private Provenance created; - public Comment(String mappedTraitId, String body, Provenance created) { - this.mappedTraitId = mappedTraitId; - this.created = created; - this.body = body; - } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java index 648e1e7..9fe958b 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java @@ -43,6 +43,8 @@ public class Mapping { private List reviews; + private List comments; + private String status; private Provenance created; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/CommentDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/CommentDtoAssembler.java new file mode 100644 index 0000000..34792e5 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/CommentDtoAssembler.java @@ -0,0 +1,11 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.assembler; + +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Comment; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.CommentDto; + +public class CommentDtoAssembler { + + public static CommentDto assemble(Comment comment) { + return new CommentDto(comment.getBody(), ProvenanceDtoAssembler.assemble(comment.getCreated())); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java index 9a7856c..139b245 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java @@ -15,6 +15,7 @@ public static MappingDto assemble(Mapping mapping) { mapping.isReviewed(), mapping.getStatus(), mapping.getReviews() != null ? mapping.getReviews().stream().map(ReviewDtoAssembler::assemble).collect(Collectors.toList()) : new ArrayList<>(), + mapping.getComments() != null ? mapping.getComments().stream().map(CommentDtoAssembler::assemble).collect(Collectors.toList()) : new ArrayList<>(), ProvenanceDtoAssembler.assemble(mapping.getCreated())); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingCommentsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingCommentsController.java new file mode 100644 index 0000000..3bdba6a --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingCommentsController.java @@ -0,0 +1,76 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.controller; + +import org.joda.time.DateTime; +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.http.HttpStatus; +import org.springframework.http.MediaType; +import org.springframework.web.bind.annotation.*; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; +import uk.ac.ebi.spot.ontotools.curation.rest.assembler.CommentDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.CommentDto; +import uk.ac.ebi.spot.ontotools.curation.service.JWTService; +import uk.ac.ebi.spot.ontotools.curation.service.MappingService; +import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; +import uk.ac.ebi.spot.ontotools.curation.util.HeadersUtil; + +import javax.servlet.http.HttpServletRequest; +import javax.validation.constraints.NotEmpty; +import java.util.ArrayList; +import java.util.Arrays; +import java.util.List; +import java.util.stream.Collectors; + +@RestController +@RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) +public class MappingCommentsController { + + private static final Logger log = LoggerFactory.getLogger(MappingCommentsController.class); + + @Autowired + private JWTService jwtService; + + @Autowired + private ProjectService projectService; + + @Autowired + private MappingService mappingService; + + /** + * POST /v1/projects/{projectId}/mappings/{mappingId}/comments + */ + @PostMapping(value = "/{projectId}" + CurationConstants.API_MAPPINGS + "/{mappingId}" + CurationConstants.API_COMMENTS, + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.CREATED) + public CommentDto createComment(@PathVariable String projectId, @PathVariable String mappingId, + @RequestBody @NotEmpty String body, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to create comment on mapping: {} | {}", user.getEmail(), projectId, mappingId); + projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR, ProjectRole.CONSUMER})); + + Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); + Mapping mapping = mappingService.addCommentToMapping(mappingId, body, provenance); + return CommentDtoAssembler.assemble(mapping.getComments().get(mapping.getComments().size() - 1)); + } + + /** + * GET /v1/projects/{projectId}/mappings/{mappingId}/comments + */ + @GetMapping(value = "/{projectId}" + CurationConstants.API_MAPPINGS + "/{mappingId}" + CurationConstants.API_COMMENTS, + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.OK) + public List retrieveReviews(@PathVariable String projectId, @PathVariable String mappingId, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to retrieve comments for mapping: {} | {}", user.getEmail(), projectId, mappingId); + projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR, ProjectRole.CONSUMER})); + + Mapping mapping = mappingService.retrieveMappingById(mappingId); + return mapping.getReviews() != null ? mapping.getComments().stream().map(CommentDtoAssembler::assemble).collect(Collectors.toList()) : new ArrayList<>(); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingReviewsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingReviewsController.java index 3acd353..e689930 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingReviewsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingReviewsController.java @@ -21,7 +21,6 @@ import uk.ac.ebi.spot.ontotools.curation.util.HeadersUtil; import javax.servlet.http.HttpServletRequest; -import javax.validation.constraints.NotEmpty; import java.util.ArrayList; import java.util.Arrays; import java.util.List; @@ -49,7 +48,7 @@ public class MappingReviewsController { produces = MediaType.APPLICATION_JSON_VALUE) @ResponseStatus(HttpStatus.CREATED) public ReviewDto createReview(@PathVariable String projectId, @PathVariable String mappingId, - @RequestBody @NotEmpty String comment, HttpServletRequest request) { + @RequestBody String comment, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to create review on mapping: {} | {}", user.getEmail(), projectId, mappingId); projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR})); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/CommentDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/CommentDto.java new file mode 100644 index 0000000..d5af7b8 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/CommentDto.java @@ -0,0 +1,40 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProvenanceDto; + +import javax.validation.constraints.NotNull; +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class CommentDto implements Serializable { + + private static final long serialVersionUID = -3975761372901822735L; + + @NotNull + @JsonProperty("body") + private final String body; + + @NotNull + @JsonProperty("created") + private final ProvenanceDto created; + + @JsonCreator + public CommentDto(@JsonProperty("body") String body, + @JsonProperty("created") ProvenanceDto created) { + this.body = body; + this.created = created; + } + + public String getBody() { + return body; + } + + public ProvenanceDto getCreated() { + return created; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingDto.java index 21b17c7..0c8bda7 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingDto.java @@ -37,6 +37,9 @@ public final class MappingDto implements Serializable { @JsonProperty("reviews") private final List reviews; + @JsonProperty("comments") + private final List comments; + @NotNull @JsonProperty("created") private final ProvenanceDto created; @@ -48,6 +51,7 @@ public MappingDto(@JsonProperty("id") String id, @JsonProperty("reviewed") boolean reviewed, @JsonProperty("status") String status, @JsonProperty("reviews") List reviews, + @JsonProperty("comments") List comments, @JsonProperty("created") ProvenanceDto created) { this.id = id; this.entityId = entityId; @@ -55,6 +59,7 @@ public MappingDto(@JsonProperty("id") String id, this.reviewed = reviewed; this.status = status; this.reviews = reviews; + this.comments = comments; this.created = created; } @@ -82,6 +87,10 @@ public List getReviews() { return reviews; } + public List getComments() { + return comments; + } + public ProvenanceDto getCreated() { return created; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/ReviewDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/ReviewDto.java index d9359b1..db6a945 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/ReviewDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/ReviewDto.java @@ -6,7 +6,7 @@ import lombok.EqualsAndHashCode; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProvenanceDto; -import javax.validation.constraints.NotNull; +import javax.validation.constraints.NotEmpty; import java.io.Serializable; @EqualsAndHashCode @@ -15,11 +15,10 @@ public final class ReviewDto implements Serializable { private static final long serialVersionUID = -3975761372901822735L; - @NotNull @JsonProperty("comment") private final String comment; - @NotNull + @NotEmpty @JsonProperty("created") private final ProvenanceDto created; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java index 7948840..e809c1f 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java @@ -21,4 +21,6 @@ public interface MappingService { Mapping addReviewToMapping(String mappingId, String comment, Provenance provenance); Mapping retrieveMappingById(String mappingId); + + Mapping addCommentToMapping(String mappingId, String body, Provenance provenance); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java index 1fe1438..b2f815c 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java @@ -7,6 +7,7 @@ import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.Review; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Comment; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; @@ -39,7 +40,7 @@ public Mapping createMapping(Entity entity, OntologyTerm ontologyTerm, Provenanc } Mapping created = mappingRepository.insert(new Mapping(null, entity.getId(), ontologyTerm.getId(), entity.getProjectId(), - false, new ArrayList<>(), MappingStatus.AWAITING_REVIEW.name(), provenance, null)); + false, new ArrayList<>(), new ArrayList<>(), MappingStatus.AWAITING_REVIEW.name(), provenance, null)); log.info("Mapping for between entity [{}] and ontology term [{}] created: {}", entity.getName(), ontologyTerm.getCurie(), created.getId()); return created; } @@ -127,4 +128,21 @@ public Mapping retrieveMappingById(String mappingId) { } return mappingOp.get(); } + + @Override + public Mapping addCommentToMapping(String mappingId, String body, Provenance provenance) { + log.info("Adding comment to mapping: {}", mappingId); + Optional mappingOp = mappingRepository.findById(mappingId); + if (!mappingOp.isPresent()) { + log.error("Mapping not found: {}", mappingId); + throw new EntityNotFoundException("Mapping not found: " + mappingId); + } + Mapping mapping = mappingOp.get(); + if (mapping.getComments() == null) { + mapping.setComments(new ArrayList<>()); + } + mapping.getComments().add(new Comment(body, provenance)); + mapping = mappingRepository.save(mapping); + return mapping; + } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index 3bb8210..6b08fe8 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -201,7 +201,7 @@ protected void createEntityTestData(String sourceId, String projectId, User user mappingSuggestionRepository.insert(new MappingSuggestion(null, entity.getId(), orphaTerm.getId(), projectId, provenance, null)); mappingSuggestionRepository.insert(new MappingSuggestion(null, entity.getId(), mondoTerm.getId(), projectId, provenance, null)); - mappingRepository.insert(new Mapping(null, entity.getId(), orphaTerm.getId(), projectId, false, new ArrayList<>(), MappingStatus.AWAITING_REVIEW.name(), provenance, null)); + mappingRepository.insert(new Mapping(null, entity.getId(), orphaTerm.getId(), projectId, false, new ArrayList<>(), new ArrayList<>(), MappingStatus.AWAITING_REVIEW.name(), provenance, null)); } protected EntityDto retrieveEntity(String projectId) throws Exception { diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingCommentsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingCommentsControllerTest.java new file mode 100644 index 0000000..9369d44 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingCommentsControllerTest.java @@ -0,0 +1,111 @@ +package uk.ac.ebi.spot.ontotools.curation; + +import com.fasterxml.jackson.core.type.TypeReference; +import org.junit.Test; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.http.MediaType; +import org.springframework.test.context.ContextConfiguration; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; +import uk.ac.ebi.spot.ontotools.curation.rest.assembler.ProvenanceDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.EntityDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.CommentDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingDto; +import uk.ac.ebi.spot.ontotools.curation.service.MappingService; +import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; +import uk.ac.ebi.spot.ontotools.curation.service.UserService; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; + +import java.util.Arrays; +import java.util.List; + +import static org.junit.Assert.assertEquals; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.get; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.post; +import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; + +@ContextConfiguration(classes = {IntegrationTest.MockTaskExecutorConfig.class}) +public class MappingCommentsControllerTest extends IntegrationTest { + + @Autowired + private UserService userService; + + @Autowired + private ProjectService projectService; + + @Autowired + private MappingService mappingService; + + private Project project; + + private SourceDto sourceDto; + + @Override + public void setup() throws Exception { + super.setup(); + List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); + List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); + ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo"); + user1 = userService.findByEmail(user1.getEmail()); + project = projectService.retrieveProject(projectDto.getId(), user1); + sourceDto = super.createSource(project.getId()); + + super.createEntityTestData(sourceDto.getId(), project.getId(), user1); + } + + /** + * POST /v1/projects/{projectId}/mappings/{mappingId}/comments + */ + @Test + public void shouldCreateReview() throws Exception { + EntityDto actual = super.retrieveEntity(project.getId()); + MappingDto mappingDto = actual.getMappings().get(0); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId() + CurationConstants.API_COMMENTS; + String response = mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content("New comment") + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isCreated()) + .andReturn() + .getResponse() + .getContentAsString(); + + CommentDto commentDto = mapper.readValue(response, new TypeReference() { + }); + assertEquals("New comment", commentDto.getBody()); + Mapping mapping = mappingService.retrieveMappingById(mappingDto.getId()); + assertEquals(1, mapping.getComments().size()); + assertEquals("New comment", mapping.getComments().get(0).getBody()); + } + + /** + * GET /v1/projects/{projectId}/mappings/{mappingId}/comments + */ + @Test + public void shouldGetReviews() throws Exception { + EntityDto actual = super.retrieveEntity(project.getId()); + MappingDto mappingDto = actual.getMappings().get(0); + mappingService.addCommentToMapping(mappingDto.getId(), "New comment", ProvenanceDtoAssembler.disassemble(mappingDto.getCreated())); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId() + CurationConstants.API_COMMENTS; + String response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + List commentDtos = mapper.readValue(response, new TypeReference>() { + }); + assertEquals(1, commentDtos.size()); + assertEquals("New comment", commentDtos.get(0).getBody()); + } +} diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java index 1c9fcd0..470e8f2 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java @@ -7,6 +7,7 @@ import org.springframework.test.context.ContextConfiguration; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; import uk.ac.ebi.spot.ontotools.curation.rest.assembler.ProvenanceDtoAssembler; @@ -23,7 +24,7 @@ import java.util.Arrays; import java.util.List; -import static org.junit.Assert.assertEquals; +import static org.junit.Assert.*; import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.get; import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.post; import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; @@ -82,6 +83,35 @@ public void shouldCreateReview() throws Exception { Mapping mapping = mappingService.retrieveMappingById(mappingDto.getId()); assertEquals(1, mapping.getReviews().size()); assertEquals("New review", mapping.getReviews().get(0).getComment()); + assertFalse(mapping.isReviewed()); + assertEquals(MappingStatus.REVIEW_IN_PROGRESS.name(), mapping.getStatus()); + } + + /** + * POST /v1/projects/{projectId}/mappings/{mappingId}/reviews + */ + @Test + public void shouldCreateReviewedMapping() throws Exception { + EntityDto actual = super.retrieveEntity(project.getId()); + MappingDto mappingDto = actual.getMappings().get(0); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId() + CurationConstants.API_REVIEWS; + + for (int i = 0; i < 3; i++) { + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content("New review") + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isCreated()) + .andReturn() + .getResponse() + .getContentAsString(); + } + + Mapping mapping = mappingService.retrieveMappingById(mappingDto.getId()); + assertTrue(mapping.isReviewed()); + assertEquals(MappingStatus.REQUIRED_REVIEWS_REACHED.name(), mapping.getStatus()); } /** From 4369dac5453cf8bee1baadc129d438b1ec251c6e Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Tue, 23 Feb 2021 20:41:08 +0800 Subject: [PATCH 22/72] Changed data import format. --- .../dto/dataimport/ImportDataElementDto.java | 28 +- .../service/impl/DataImportServiceImpl.java | 6 +- src/test/resources/import_test.json | 24886 ++++++++-------- 3 files changed, 12460 insertions(+), 12460 deletions(-) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataElementDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataElementDto.java index f9369d3..6d0880c 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataElementDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataElementDto.java @@ -14,34 +14,34 @@ public final class ImportDataElementDto implements Serializable { private static final long serialVersionUID = -472202121082840265L; - @JsonProperty("baseId") - private final String baseId; + @JsonProperty("upstreamId") + private final String upstreamId; @NotEmpty @JsonProperty("text") private final String text; - @JsonProperty("baseField") - private final String baseField; + @JsonProperty("upstreamField") + private final String upstreamField; @JsonCreator public ImportDataElementDto(@JsonProperty("text") String text, - @JsonProperty("baseId") String baseId, - @JsonProperty("baseField") String baseField) { - this.baseId = baseId; + @JsonProperty("upstreamId") String upstreamId, + @JsonProperty("upstreamField") String upstreamField) { + this.upstreamId = upstreamId; this.text = text; - this.baseField = baseField; - } - - public String getBaseId() { - return baseId; + this.upstreamField = upstreamField; } public String getText() { return text; } - public String getBaseField() { - return baseField; + public String getUpstreamId() { + return upstreamId; + } + + public String getUpstreamField() { + return upstreamField; } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java index d252dbf..1b01f81 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java @@ -9,10 +9,10 @@ import org.springframework.scheduling.annotation.Async; import org.springframework.stereotype.Service; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; -import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; -import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.rest.dto.dataimport.ImportDataElementDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.dataimport.ImportDataPackageDto; import uk.ac.ebi.spot.ontotools.curation.service.DataImportService; @@ -59,7 +59,7 @@ public void importData(String fileData, String projectId, String sourceId, User log.info("Creating entities ..."); int count = 0; for (ImportDataElementDto importDataElementDto : importDataPackageDto.getData()) { - entityService.createEntity(new Entity(null, importDataElementDto.getText(), importDataElementDto.getBaseId(), importDataElementDto.getBaseField(), + entityService.createEntity(new Entity(null, importDataElementDto.getText(), importDataElementDto.getUpstreamId(), importDataElementDto.getUpstreamField(), sourceId, projectId, provenance, EntityStatus.UNMAPPED)); count++; if (count % 100 == 0) { diff --git a/src/test/resources/import_test.json b/src/test/resources/import_test.json index b775677..009b588 100644 --- a/src/test/resources/import_test.json +++ b/src/test/resources/import_test.json @@ -1,49775 +1,49775 @@ { "data": [ { - "baseId": "15041|15042|133857|133858|133859|133860|133861|133862|133863|133864|207487|221702|240085|240086|240087|240088|240089|240090|240092|240093|240094|240095|240098|303075|303076|303080|303081|303082|303084|303091|303095|303096|303097|303104|303107|303109|303114|303115|303116|303118|303133|303134|303138|303146|303149|303150|303152|303156|303158|303159|303160|303166|303173|306349|306352|306365|306366|306374|306377|306381|306389|306390|306391|306393|306396|306399|306410|306418|306424|306426|306428|306432|306433|306434|306436|306438|306439|306443|311176|311178|311193|311196|311203|311207|311208|311209|311212|311213|311217|311218|311219|311228|311229|311231|311234|311237|311249|311251|311255|311256|311275|311291|311292|311294|311298|311307|311309|311311|311313|311318|311319|311321|311327|311331|311337|311339|311358|311359|311360|311368|311369|311384|311387|311398|311404|311405|311408|311409|311412|311422|311436|311437|311438|311444|311446|311451|311452|311455|311456|362089|362090|362091|362092|395615|395654|395884|395887|395905|395906|395917|396011|396015|396018|396306|396318|396319|396330|411562|411563|438803|441133|441136|441137|456744|457173|457177|457370|457372|457382|522686|522693|522696|522700|522710|522931|522940|522941|522944|522946|523106|523107|561626|561630|561635|561637|561959|561968|561971|561975|561979|561983|561988|566877|566887|566911|577002|577003|577004|581712|620264|620265|636174|636175|636176|636177|636178|636179|636180|636181|636182|636183|636184|636185|636186|636187|636188|636189|636190|636191|636192|636193|636194|636195|636196|636197|636198|636199|651679|651682|651684|651735|683898|683899|683900|683902|683903|683904|683906|683908|683909|683910|683912|683913|685222|685223|687059|687062|687064|687065|687068|687070|687071|687075|689872|689873|689874|689875|689877|692247|692249|692250|722551|744411|759685|833626|833627|833628|833629|833630|833631|833632|833633|833634|833635|833636|833637|833638|833639|833640|833641|833642|833643|898135|898136|898137|898138|898139|898140|898141|898142|898143|898144|898145|898146|898147|898148|898149|898150|898151|898152|898153|898154|898155|898156|898157|898158|898159|898160|898161|898162|898163|898164|898165|898166|898167|898168|898169|898170|898171|898172|898173|898174|898175|898176|898177|898178|898179|898180|898181|898182|898183|898184|898185|898186|898187|898188|898189|898190|898191|898192|898193|898194|898195|898196|898197|898198|898199|898200|898201|898202|898203|898204|898205|898206|898207|898208|898209|898210|898211|898212|898213|898214|898215|898216|898217|898218|898219|898220|898221|898222|898223|898224|898225|898226|898227|898228|898229|898230|898231|898232|898233|898234|898235|898236|898237|898238|898239|898240|898241|900369|900370|900371|900372|900373|900374|900375|924859|924860|924861|924862|924863|924864|933894|933895|940076|945638|945639|945640|945641|945642|945643|945644|955161|955162|963149", + "upstreamId": "15041|15042|133857|133858|133859|133860|133861|133862|133863|133864|207487|221702|240085|240086|240087|240088|240089|240090|240092|240093|240094|240095|240098|303075|303076|303080|303081|303082|303084|303091|303095|303096|303097|303104|303107|303109|303114|303115|303116|303118|303133|303134|303138|303146|303149|303150|303152|303156|303158|303159|303160|303166|303173|306349|306352|306365|306366|306374|306377|306381|306389|306390|306391|306393|306396|306399|306410|306418|306424|306426|306428|306432|306433|306434|306436|306438|306439|306443|311176|311178|311193|311196|311203|311207|311208|311209|311212|311213|311217|311218|311219|311228|311229|311231|311234|311237|311249|311251|311255|311256|311275|311291|311292|311294|311298|311307|311309|311311|311313|311318|311319|311321|311327|311331|311337|311339|311358|311359|311360|311368|311369|311384|311387|311398|311404|311405|311408|311409|311412|311422|311436|311437|311438|311444|311446|311451|311452|311455|311456|362089|362090|362091|362092|395615|395654|395884|395887|395905|395906|395917|396011|396015|396018|396306|396318|396319|396330|411562|411563|438803|441133|441136|441137|456744|457173|457177|457370|457372|457382|522686|522693|522696|522700|522710|522931|522940|522941|522944|522946|523106|523107|561626|561630|561635|561637|561959|561968|561971|561975|561979|561983|561988|566877|566887|566911|577002|577003|577004|581712|620264|620265|636174|636175|636176|636177|636178|636179|636180|636181|636182|636183|636184|636185|636186|636187|636188|636189|636190|636191|636192|636193|636194|636195|636196|636197|636198|636199|651679|651682|651684|651735|683898|683899|683900|683902|683903|683904|683906|683908|683909|683910|683912|683913|685222|685223|687059|687062|687064|687065|687068|687070|687071|687075|689872|689873|689874|689875|689877|692247|692249|692250|722551|744411|759685|833626|833627|833628|833629|833630|833631|833632|833633|833634|833635|833636|833637|833638|833639|833640|833641|833642|833643|898135|898136|898137|898138|898139|898140|898141|898142|898143|898144|898145|898146|898147|898148|898149|898150|898151|898152|898153|898154|898155|898156|898157|898158|898159|898160|898161|898162|898163|898164|898165|898166|898167|898168|898169|898170|898171|898172|898173|898174|898175|898176|898177|898178|898179|898180|898181|898182|898183|898184|898185|898186|898187|898188|898189|898190|898191|898192|898193|898194|898195|898196|898197|898198|898199|898200|898201|898202|898203|898204|898205|898206|898207|898208|898209|898210|898211|898212|898213|898214|898215|898216|898217|898218|898219|898220|898221|898222|898223|898224|898225|898226|898227|898228|898229|898230|898231|898232|898233|898234|898235|898236|898237|898238|898239|898240|898241|900369|900370|900371|900372|900373|900374|900375|924859|924860|924861|924862|924863|924864|933894|933895|940076|945638|945639|945640|945641|945642|945643|945644|955161|955162|963149", "text": "Spastic paraplegia 48, autosomal recessive" }, { - "baseId": "15043|136283|136284|171113|172286|172287|204986|204987|204988|204989|204990|204991|205481|227158|539062|578520|623016|791491|791492|792609|798689", + "upstreamId": "15043|136283|136284|171113|172286|172287|204986|204987|204988|204989|204990|204991|205481|227158|539062|578520|623016|791491|791492|792609|798689", "text": "Galloway-Mowat syndrome 1" }, { - "baseId": "15044|15045|40005|101651|211503|444750|858564|903577|920295|969169", + "upstreamId": "15044|15045|40005|101651|211503|444750|858564|903577|920295|969169", "text": "Mitochondrial complex 1 deficiency, nuclear type 19" }, { - "baseId": 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"text": "Leigh syndrome" }, { - "baseId": 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"text": "Inborn genetic diseases" }, { - "baseId": "15048|15049|15050|15051|15052|15055|15056|15057|15058|17404|17410|19325|94503|134671|186058|186284|205545|212520|213452|221629|221643|221646|222805|224314|224315|239897|299721|299725|299728|299729|299735|299736|302313|302329|302330|302332|302333|306734|307009|307017|307028|307029|395087|395090|395258|395689|395931|455484|455591|561169|620224|621748|790139|790140|790670|895721|895722|895723|895724|895725|895726|895727|895728|895729|895730|895731|895732|895733|895734|895735|895736|895737|896216", + "upstreamId": "15048|15049|15050|15051|15052|15055|15056|15057|15058|17404|17410|19325|94503|134671|186058|186284|205545|212520|213452|221629|221643|221646|222805|224314|224315|239897|299721|299725|299728|299729|299735|299736|302313|302329|302330|302332|302333|306734|307009|307017|307028|307029|395087|395090|395258|395689|395931|455484|455591|561169|620224|621748|790139|790140|790670|895721|895722|895723|895724|895725|895726|895727|895728|895729|895730|895731|895732|895733|895734|895735|895736|895737|896216", "text": "Hemochromatosis type 1" }, { - "baseId": "15048", + "upstreamId": "15048", "text": "Porphyria cutanea tarda, susceptibility to" }, { - "baseId": "15048", + "upstreamId": "15048", "text": "Porphyria variegata, susceptibility to" }, { - "baseId": "15048|19324", + "upstreamId": "15048|19324", "text": "Hemochromatosis, juvenile, digenic" }, { - "baseId": "15048|18672|27428|27656|33210|390084", + "upstreamId": "15048|18672|27428|27656|33210|390084", "text": "Alzheimer disease, susceptibility to" }, { - "baseId": "15048", + "upstreamId": "15048", "text": "Transferrin serum level quantitative trait locus 2" }, { - "baseId": "15048|15049", + "upstreamId": "15048|15049", "text": "Microvascular complications of diabetes 7" }, { - "baseId": 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"text": "Hereditary cancer-predisposing syndrome" }, { - "baseId": 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+ "upstreamId": "15048|15049|15050|15058|19325|20422|34214|34217|34220|34221|34225|34226|34230|94503|134671|186057|212520|212530|213450|213451|221629|221642|221644|221645|222806|224315|239897|239955|239956|243332|252546|271323|283579|283593|283615|283616|284276|286258|299721|301262|301268|302313|304456|304459|304461|304463|309043|309060|309071|353550|395087|395264|395624|395930|395938|403292|455484|455487|455491|455588|455591|455888|456096|456499|456503|456865|521830|521904|521906|522221|522312|522661|522662|522664|560678|561111|561113|561132|561136|561167|561169|563903|566173|620244|635334|635335|635336|635337|635338|635339|647942|651741|683828|683829|683830|683831|683832|683833|683834|683835|683836|683837|685200|685201|685202|685203|685204|685205|686927|686928|686931|686932|686933|689844|689845|689846|689847|691975|692083|765918|765925|779896|782690|782694|787519|790670|819770|832624|832625|832626|832627|832628|832629|851112|851322|895724|897036|924527|924528|928929|933266|940841|944962|945266|954408|954409|954942|954943|954944", "text": "Hereditary hemochromatosis" }, { - "baseId": "15048|966618|969329", + "upstreamId": "15048|966618|969329", "text": "Cutaneous photosensitivity" }, { - "baseId": "15048|360805", + "upstreamId": "15048|360805", "text": "Porphyrinuria" }, { - "baseId": "15048|682747", + "upstreamId": "15048|682747", "text": "Hemochromatosis type 2" }, { - "baseId": "15048|15049", + "upstreamId": "15048|15049", "text": "Bronze diabetes" }, { - "baseId": "15048|23886|23891|24765|32903|33127|33128|33130|33132|33133|33137|33140|33145|103887|103896|103986|104129|132725|336528|336531|336536|336542|336544|336553|336554|336561|336562|346238|346247|346248|346249|346250|346257|346260|346261|346266|346269|350516|350518|350521|350522|350524|350525|350527|350528|350529|350530|351560|351563|351566|351567|351570|351574|418806|418807|420431|442309|469532|533749|533765|534332|577873|577874|577876|577877|590943|590944|590945|590948|590949|590950|590951|590952|590953|590955|590965|648878|648879|648880|648881|648882|648883|648884|653161|694610|694614|694615|694616|694617|694618|695855|742577|848660|848661|886639|886640|886641|886642|886643|886644|886645|886646|886647|886648|886649|886650|886651|886652|886653|886654|886655|886656|886657|886658|886659|886660|886661|886662|886663|886664|886665|886666|886667|886668|919751|951189|960949", + "upstreamId": "15048|23886|23891|24765|32903|33127|33128|33130|33132|33133|33137|33140|33145|103887|103896|103986|104129|132725|336528|336531|336536|336542|336544|336553|336554|336561|336562|346238|346247|346248|346249|346250|346257|346260|346261|346266|346269|350516|350518|350521|350522|350524|350525|350527|350528|350529|350530|351560|351563|351566|351567|351570|351574|418806|418807|420431|442309|469532|533749|533765|534332|577873|577874|577876|577877|590943|590944|590945|590948|590949|590950|590951|590952|590953|590955|590965|648878|648879|648880|648881|648882|648883|648884|653161|694610|694614|694615|694616|694617|694618|695855|742577|848660|848661|886639|886640|886641|886642|886643|886644|886645|886646|886647|886648|886649|886650|886651|886652|886653|886654|886655|886656|886657|886658|886659|886660|886661|886662|886663|886664|886665|886666|886667|886668|919751|951189|960949", "text": "Alzheimer disease" }, { - "baseId": "15048|16740|16742|17524|19329|19331|19332|19334|19350|19367|22872|22883|27386|28984|29127|29131|29141|29164|29209|29220|29230|29680|31328|31338|31379|32039|32043|32048|32049|32351|32386|32485|38590|39416|40351|45303|45605|45795|48174|50281|51564|52028|52044|52045|52071|52136|52146|52155|52270|52287|70951|77659|99352|101204|102208|133120|133133|133139|133153|141325|151663|153737|165560|168250|175442|175610|181400|181428|181463|182990|187315|187363|187986|187995|187996|188003|188008|192716|193089|195318|195508|195559|201545|205216|207373|213298|213517|213602|213614|231766|243979|243980|243996|244257|259764|263177|263180|263194|263240|263241|263277|263291|263293|263316|263394|263403|263416|263417|263518|263934|264139|265506|271274|271557|272622|273563|295323|312875|345158|346557|359454|359566|360802|360811|360819|360859|360872|360898|360946|360972|360974|360982|361037|361038|361058|361059|361072|361082|361104|362135|362312|367608|376313|380289|389102|394589|399749|414003|414007|414011|419728|421792|425565|434691|439829|441976|443485|445808|445822|447245|448196|460360|470377|475556|481888|494081|495459|501070|513901|513906|513919|513932|513933|513950|513962|513963|513965|513993|514025|514034|514129|514146|514151|514177|514222|520980|535226|590034|590053|590056|590058|590066|590086|590460|613542|614175|619854|622212|622213|677418|677428|682676|794202|801189|801253|904254|918916|920247|974891", + "upstreamId": "15048|16740|16742|17524|19329|19331|19332|19334|19350|19367|22872|22883|27386|28984|29127|29131|29141|29164|29209|29220|29230|29680|31328|31338|31379|32039|32043|32048|32049|32351|32386|32485|38590|39416|40351|45303|45605|45795|48174|50281|51564|52028|52044|52045|52071|52136|52146|52155|52270|52287|70951|77659|99352|101204|102208|133120|133133|133139|133153|141325|151663|153737|165560|168250|175442|175610|181400|181428|181463|182990|187315|187363|187986|187995|187996|188003|188008|192716|193089|195318|195508|195559|201545|205216|207373|213298|213517|213602|213614|231766|243979|243980|243996|244257|259764|263177|263180|263194|263240|263241|263277|263291|263293|263316|263394|263403|263416|263417|263518|263934|264139|265506|271274|271557|272622|273563|295323|312875|345158|346557|359454|359566|360802|360811|360819|360859|360872|360898|360946|360972|360974|360982|361037|361038|361058|361059|361072|361082|361104|362135|362312|367608|376313|380289|389102|394589|399749|414003|414007|414011|419728|421792|425565|434691|439829|441976|443485|445808|445822|447245|448196|460360|470377|475556|481888|494081|495459|501070|513901|513906|513919|513932|513933|513950|513962|513963|513965|513993|514025|514034|514129|514146|514151|514177|514222|520980|535226|590034|590053|590056|590058|590066|590086|590460|613542|614175|619854|622212|622213|677418|677428|682676|794202|801189|801253|904254|918916|920247|974891", "text": "7 conditions" }, { - "baseId": 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+ "upstreamId": 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"text": "6 conditions" }, { - "baseId": 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"text": "Cystic fibrosis" }, { - "baseId": "15053", + "upstreamId": "15053", "text": "HFE INTRONIC POLYMORPHISM" }, { - "baseId": "15054|15055", + "upstreamId": "15054|15055", "text": "HFE POLYMORPHISM" }, { - "baseId": 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+ "upstreamId": "15059|15060|15061|15062|76527|76527|76528|76529|76531|76532|99368|99368|177078|178154|178155|178155|192629|192629|192964|192964|195918|195918|206935|206935|206937|250472|265346|265346|268034|268034|270910|271977|272560|272806|272806|273025|283724|283727|283728|283734|283736|283737|283738|283749|283751|283752|283757|283759|283764|283770|283771|283776|283778|283779|283780|283785|283796|283796|283799|283799|283805|283805|283810|283820|283823|283824|283829|283830|284401|284404|284407|284414|284419|284430|284431|284432|284437|284437|284438|284448|284457|284458|284459|284461|284463|284463|284471|284471|286403|286415|286416|286421|286422|286439|286446|286447|286448|286450|286451|286452|286470|286472|286472|286474|286475|286476|286478|286481|286484|286484|286777|286778|286779|286781|286786|286793|286794|286810|286816|286828|286841|286842|286855|286857|286857|286858|286865|286866|286876|286878|286881|286881|425298|427983|427983|431459|431460|434040|434042|434042|434044|434045|450229|450242|450242|450249|450362|450490|481529|481532|488635|488637|490556|517497|557806|557810|557857|559023|559522|559525|629268|629274|629274|629275|697232|697236|719510|730096|747156|762776|825542|825545|825548|825553|883131|883132|883133|883134|883135|883136|883137|883138|883139|883140|883141|883142|883143|883144|883145|883146|883147|883148|883149|883150|883151|883152|883153|883154|883155|883156|883157|883158|883159|883160|883161|883162|883163|883164|883165|883166|883167|883168|883169|883170|883171|883172|883173|883174|883175|883176|883177|883178|887229|887230|887231|887232|922506|931069|952874|959619", "text": "Cranioectodermal dysplasia 2" }, { - "baseId": "15063|15064|15065|15066|133702|133703|133704|152958|152959|152960|244168|260803|267423|335045|335048|335051|335060|335067|335074|335075|344830|344832|344834|344839|344840|344843|344846|344851|349775|349778|349781|349782|349784|350785|350788|350789|350792|350793|350796|350797|353583|377969|424226|446212|509045|535709|848258|885932|885933|885934|885935|885936|885937|885938|885939|885940|885941|885942|885943|885944|885945|885946|887436|887437", + "upstreamId": "15063|15064|15065|15066|133702|133703|133704|152958|152959|152960|244168|260803|267423|335045|335048|335051|335060|335067|335074|335075|344830|344832|344834|344839|344840|344843|344846|344851|349775|349778|349781|349782|349784|350785|350788|350789|350792|350793|350796|350797|353583|377969|424226|446212|509045|535709|848258|885932|885933|885934|885935|885936|885937|885938|885939|885940|885941|885942|885943|885944|885945|885946|887436|887437", "text": "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" }, { - "baseId": "15067|177212|884608|918769", + "upstreamId": "15067|177212|884608|918769", "text": "Retinitis pigmentosa 58" }, { - "baseId": "15067|76616|101480|105678|105683|105694|105695|105697|193413|195456|252354|256338|276556|276557|276559|276574|277045|285839|285845|285847|286597|286598|286599|286605|286612|286620|288382|288828|288829|288835|288837|288845|288848|288849|288851|289235|289236|289240|289247|289918|291381|293005|293389|293396|293404|293405|300123|300126|300134|300137|300141|300173|302858|302861|302865|302867|302869|302871|307243|307263|307275|307276|307289|307361|307363|307369|307471|307480|307508|307515|307521|307522|307578|308121|308122|308139|309406|310951|312529|314772|314795|318344|318809|318838|318854|320386|321090|327227|329401|329410|329414|329421|329440|329441|329442|329443|329444|329445|329448|329452|329455|333926|333959|334250|334252|337254|337259|339390|339395|339690|339706|339710|339716|339719|339724|339730|339732|339733|339736|339740|339742|339743|343491|343885|343913|344187|344188|344216|345436|345449|345454|345456|345458|345460|345465|345466|346116|346800|346801|346803|346805|346806|346812|346815|346816|349196|349200|349209|350128|350359|351471|351490|353450|353451|353520|353771|353775|353806|353840|620083", + "upstreamId": "15067|76616|101480|105678|105683|105694|105695|105697|193413|195456|252354|256338|276556|276557|276559|276574|277045|285839|285845|285847|286597|286598|286599|286605|286612|286620|288382|288828|288829|288835|288837|288845|288848|288849|288851|289235|289236|289240|289247|289918|291381|293005|293389|293396|293404|293405|300123|300126|300134|300137|300141|300173|302858|302861|302865|302867|302869|302871|307243|307263|307275|307276|307289|307361|307363|307369|307471|307480|307508|307515|307521|307522|307578|308121|308122|308139|309406|310951|312529|314772|314795|318344|318809|318838|318854|320386|321090|327227|329401|329410|329414|329421|329440|329441|329442|329443|329444|329445|329448|329452|329455|333926|333959|334250|334252|337254|337259|339390|339395|339690|339706|339710|339716|339719|339724|339730|339732|339733|339736|339740|339742|339743|343491|343885|343913|344187|344188|344216|345436|345449|345454|345456|345458|345460|345465|345466|346116|346800|346801|346803|346805|346806|346812|346815|346816|349196|349200|349209|350128|350359|351471|351490|353450|353451|353520|353771|353775|353806|353840|620083", "text": "Retinitis Pigmentosa, Dominant" }, { - "baseId": "15068|15069|15070|15071|15072|15073|200652|200653|200654|200655|200656|200657|200658|200659|200660|200661|200662|200663|200664|200665|200666|200667|200668|200669|200670|200671|200672|200673|200674|200675|200676|200677|200678|200679|200680|200681|200682|200683|200684|200685|200686|311815|311816|311822|311830|311833|311834|311841|311843|311845|317422|317423|317430|317432|317439|317445|317446|317447|317448|317450|317453|317454|323464|323485|323488|324086|324087|324091|324101|324105|324106|324129|324131|324134|361418|384488|513085|513086|545322|545324|545327|545330|545331|545663|545666|545672|545673|545674|545675|545677|545679|545680|545681|545956|584999|613512|620826|737669|737671|752359|752360|768089|768091|768092|783790|783791|783794|837569|866646|866647|866648|866649|866650|866651|866652|866653|866654|866655|866656|866657|866658|866659|866660|866661|866662|866663|866664|866665|866666|866667|866668|866669|866670|866671|866672|866673|868546|978810|978811|978812|978813|978814|978815|978816|978817|978818|978819|978820", + "upstreamId": "15068|15069|15070|15071|15072|15073|200652|200653|200654|200655|200656|200657|200658|200659|200660|200661|200662|200663|200664|200665|200666|200667|200668|200669|200670|200671|200672|200673|200674|200675|200676|200677|200678|200679|200680|200681|200682|200683|200684|200685|200686|311815|311816|311822|311830|311833|311834|311841|311843|311845|317422|317423|317430|317432|317439|317445|317446|317447|317448|317450|317453|317454|323464|323485|323488|324086|324087|324091|324101|324105|324106|324129|324131|324134|361418|384488|513085|513086|545322|545324|545327|545330|545331|545663|545666|545672|545673|545674|545675|545677|545679|545680|545681|545956|584999|613512|620826|737669|737671|752359|752360|768089|768091|768092|783790|783791|783794|837569|866646|866647|866648|866649|866650|866651|866652|866653|866654|866655|866656|866657|866658|866659|866660|866661|866662|866663|866664|866665|866666|866667|866668|866669|866670|866671|866672|866673|868546|978810|978811|978812|978813|978814|978815|978816|978817|978818|978819|978820", "text": "Primary hyperoxaluria, type III" }, { - "baseId": "15074|15075|15076|15077|15078|102110|102111|176952|286942|286944|537353|542144|542196|542200|542299|719931|719932|719934|733534|747733|747734|763375|781417|799305|816401|826873|826883|826884|826888|885305|918778|931539|953159|953161|953163|977724|977725|977726|977727|977728|977729|977730|977731|977732|977733|977734|977735|977736|977737|977738", + "upstreamId": "15074|15075|15076|15077|15078|102110|102111|176952|286942|286944|537353|542144|542196|542200|542299|719931|719932|719934|733534|747733|747734|763375|781417|799305|816401|826873|826883|826884|826888|885305|918778|931539|953159|953161|953163|977724|977725|977726|977727|977728|977729|977730|977731|977732|977733|977734|977735|977736|977737|977738", "text": "Retinitis pigmentosa 28" }, { - "baseId": 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"text": "Retinal dystrophy" }, { - "baseId": 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+ "upstreamId": 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"text": "Autosomal recessive retinitis pigmentosa" }, { - "baseId": 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+ "upstreamId": 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"text": "Cone-rod dystrophy" }, { - "baseId": 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"text": "Retinitis pigmentosa" }, { - "baseId": "15079|15080|15081|15082|15083|39992|39993|39994|39995|39996|39997|39998|39999|99440|99442|99443|99444|141609|141610|141611|141612|141613|169473|169474|169475|169477|169478|169480|169481|169482|169483|169484|169485|169486|169487|169488|169489|169490|169491|169492|169493|169495|169496|169497|169499|169501|169502|169505|169506|169507|169508|169509|169510|169511|169512|169513|169514|169515|169517|169518|169519|169520|169521|169522|169523|169524|169526|169527|169528|169529|169530|169531|169532|169533|169534|169536|169537|169538|169539|169540|178157|192271|193023|193774|208571|208575|208576|208578|265067|268026|268831|333226|333227|333234|333239|333241|333242|333254|333265|333266|343335|343337|343340|343342|343343|343346|343349|343351|343353|348629|348630|348631|348634|348635|348638|348639|348641|349700|349703|349704|349707|349708|349711|349712|349715|349716|379530|413504|430185|430187|430189|446093|488843|492004|508924|613133|620635|620636|623017|623018|669669|677265|681832|728140|756942|806043|806290|855116|880367|880368|880369|880370|880371|880372|880373|880374|880375|880376|880377|880378|880379|880380|880381|880382|880383|880384|880385|880386|880735|880736|880737|880738|880739|880740|880741|919851|964523|965746|966006|966007|966008|966009", + "upstreamId": "15079|15080|15081|15082|15083|39992|39993|39994|39995|39996|39997|39998|39999|99440|99442|99443|99444|141609|141610|141611|141612|141613|169473|169474|169475|169477|169478|169480|169481|169482|169483|169484|169485|169486|169487|169488|169489|169490|169491|169492|169493|169495|169496|169497|169499|169501|169502|169505|169506|169507|169508|169509|169510|169511|169512|169513|169514|169515|169517|169518|169519|169520|169521|169522|169523|169524|169526|169527|169528|169529|169530|169531|169532|169533|169534|169536|169537|169538|169539|169540|178157|192271|193023|193774|208571|208575|208576|208578|265067|268026|268831|333226|333227|333234|333239|333241|333242|333254|333265|333266|343335|343337|343340|343342|343343|343346|343349|343351|343353|348629|348630|348631|348634|348635|348638|348639|348641|349700|349703|349704|349707|349708|349711|349712|349715|349716|379530|413504|430185|430187|430189|446093|488843|492004|508924|613133|620635|620636|623017|623018|669669|677265|681832|728140|756942|806043|806290|855116|880367|880368|880369|880370|880371|880372|880373|880374|880375|880376|880377|880378|880379|880380|880381|880382|880383|880384|880385|880386|880735|880736|880737|880738|880739|880740|880741|919851|964523|965746|966006|966007|966008|966009", "text": "Primary autosomal recessive microcephaly 2" }, { - "baseId": "15080|19999|34434|167642|208040|222995|247394|247395|247396|428854|496152", + "upstreamId": "15080|19999|34434|167642|208040|222995|247394|247395|247396|428854|496152", "text": "Primary autosomal recessive microcephaly" }, { - "baseId": "15084|101641|172323|186006|190552|190886|212273|221320|221321|221321|250755|250756|250757|250759|286960|286966|286970|286971|286975|286988|286989|287727|287744|287746|287748|287751|290127|290128|290129|290132|290134|290495|290497|290499|290503|290516|290517|290518|512811|518584|518637|560894|620090|620749|683505|683506|683507|686230|686231|885314|885315|885316|885317|885318|885319|885320|885321|885322|885323|885324|885325|887382|887383|887384|887385|887386|906280|963128|969601|969602", + "upstreamId": "15084|101641|172323|186006|190552|190886|212273|221320|221321|221321|250755|250756|250757|250759|286960|286966|286970|286971|286975|286988|286989|287727|287744|287746|287748|287751|290127|290128|290129|290132|290134|290495|290497|290499|290503|290516|290517|290518|512811|518584|518637|560894|620090|620749|683505|683506|683507|686230|686231|885314|885315|885316|885317|885318|885319|885320|885321|885322|885323|885324|885325|887382|887383|887384|887385|887386|906280|963128|969601|969602", "text": "Bardet-Biedl syndrome 15" }, { - "baseId": "15085", + "upstreamId": "15085", "text": "Bardet-Biedl syndrome 12, modifier of" }, { - "baseId": "15086", + "upstreamId": "15086", "text": "Meckel syndrome, type 6, modifier of" }, { - "baseId": 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+ "upstreamId": "15087|15088|15089|135980|135981|135982|135983|135984|135985|135986|143094|143095|143096|143097|143099|143100|143101|143102|192294|192295|192525|194350|203222|203228|203234|203238|203241|203242|203245|203246|203250|208250|230634|230638|230643|230645|324792|324793|324797|324799|324803|324818|324819|324823|324827|324829|324833|324836|324839|324840|324843|324847|324856|324858|324860|324861|324862|324873|324874|324878|324879|324883|334412|334415|334416|334423|334426|334429|334436|334440|334444|334447|334450|334457|334459|334470|334471|334473|334474|334476|334481|334484|334486|334488|334490|334495|341007|341008|341009|341012|341013|341020|341021|341023|341024|341027|341030|341032|341036|341037|341038|341039|341043|341045|341046|341047|341048|341053|341057|342539|342547|342548|342550|342551|342552|342553|342558|342560|342563|342565|342567|342569|342572|342575|342579|342582|342583|342587|342588|342589|342590|342592|342594|342595|342598|342602|342604|342607|374293|374986|375027|426166|429780|429781|614419|644501|797289|874994|874995|874996|874997|874998|874999|875000|875001|875002|875003|875004|875005|875006|875007|875008|875009|875010|875011|875012|875013|875014|875015|875016|875017|875018|875019|875020|875021|875022|875023|875024|875025|875026|875027|875028|875029|875030|875031|875032|875033|875034|875035|875036|875037|875038|875039|875040|875041|875042|875043|875044|875045|875046|875047", "text": "Myoclonic epilepsy, familial infantile" }, { - "baseId": 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+ "upstreamId": 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"text": "Deafness, autosomal dominant 65" }, { - "baseId": 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+ "upstreamId": 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"text": "Caused by mutation in the TBC1 domain family, member 24" }, { - "baseId": 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"text": "Epileptic encephalopathy, early infantile, 1" }, { - "baseId": 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+ "upstreamId": 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"text": "Nephronophthisis-like nephropathy 1" }, { - "baseId": "15092|15093|133983|133983|140298|140298|140299|140299|211578|254440|316224|316225|316228|316231|323564|323565|323568|323579|329708|329709|329709|329718|329721|330961|330963|330965|330966|330969|330970|503572|538428|566397|640668|640669|684309|687914|753174|801553|820448|839377|839378|869424|869425|869426|869427|869428|869429|869430|869431|869432|869433|869434|869435|869436|869437|869438|869439|869440|869441|869442|869443|904204|947809", + "upstreamId": "15092|15093|133983|133983|140298|140298|140299|140299|211578|254440|316224|316225|316228|316231|323564|323565|323568|323579|329708|329709|329709|329718|329721|330961|330963|330965|330966|330969|330970|503572|538428|566397|640668|640669|684309|687914|753174|801553|820448|839377|839378|869424|869425|869426|869427|869428|869429|869430|869431|869432|869433|869434|869435|869436|869437|869438|869439|869440|869441|869442|869443|904204|947809", "text": "Combined oxidative phosphorylation deficiency 7" }, { - "baseId": "15092|18494|21822|39422|98402|142972|168010|178088|208019|263302|264512|268517|364478|364483|389104|389105|389106|389107|389108|389109|389110|389114|389115|389116|389118|389119|389120|389121|389122|389123|389124|389125|389126|389127|389128|389129|389130|389131|389132|389136|389137|389138|389139|389140|389141|389142|389143|389144|389145|389146|389147|389148|389149|389150|389151|389152|389153|389154|389155|389156|389157|389159|389160|389161|389162|389164|389165|389166|389167|389168|389169|389170|389171|389172|389173|389174|389175|389177|389179|389180|389181|389182|389183|389184|389185|389186|389187|389188|389189|389190|389191|389192|514092|576060|576061|625988", + "upstreamId": "15092|18494|21822|39422|98402|142972|168010|178088|208019|263302|264512|268517|364478|364483|389104|389105|389106|389107|389108|389109|389110|389114|389115|389116|389118|389119|389120|389121|389122|389123|389124|389125|389126|389127|389128|389129|389130|389131|389132|389136|389137|389138|389139|389140|389141|389142|389143|389144|389145|389146|389147|389148|389149|389150|389151|389152|389153|389154|389155|389156|389157|389159|389160|389161|389162|389164|389165|389166|389167|389168|389169|389170|389171|389172|389173|389174|389175|389177|389179|389180|389181|389182|389183|389184|389185|389186|389187|389188|389189|389190|389191|389192|514092|576060|576061|625988", "text": "Abnormality of brain morphology" }, { - "baseId": "15092|48181|94433|96885|153818|153819|538428|919417|971343", + "upstreamId": "15092|48181|94433|96885|153818|153819|538428|919417|971343", "text": "Spastic paraplegia 55, autosomal recessive" }, { - "baseId": 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"text": "Epileptic encephalopathy" }, { - "baseId": 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"text": "Primary autosomal recessive microcephaly 9" }, { - "baseId": "15094|39987|39989|39990|39991|101548|101548|101549|101550|101551|140422|140423|140424|140425|140426|140427|140428|140429|169123|169125|169126|169128|169129|169132|169133|169138|169140|169141|169142|169148|169148|169149|169152|169154|169154|169159|169163|169164|169168|169172|169174|169175|169176|322812|322813|322814|322817|322818|332286|332288|332290|332291|332298|332299|332302|332305|332310|332323|332325|332332|332333|332347|339307|339310|339311|339312|339314|339321|339330|339338|340752|340760|340762|340764|340768|340775|340777|340781|373593|374218|390686|513631|714475|770213|873743|873744|873745|873746|873747|873748|873749|873750|873751|873752|873753|873754|873755|873756|873757|873758|873759|873760|873761|873762|873763|873764|873765|873766|873767|873768|919579|919580", + "upstreamId": 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"text": "Bardet-Biedl syndrome" }, { - "baseId": "15096|15099|15100|166292|166293|166293|176930|176930|178060|178060|190854|191240|196005|205134|206781|206784|249845|249846|249846|249848|249848|249850|249851|249854|268658|268658|280170|280177|280179|280185|280185|280192|280192|280530|280538|280538|280543|280543|280560|280560|280561|280563|281826|281828|281955|281956|281956|281968|281974|281974|281975|281978|281979|281980|427758|427758|427759|447949|447949|448070|448070|515777|515777|552297|556940|612174|622312|622860|627685|627686|627687|627688|627689|650586|650710|690565|690565|690570|695042|695043|695044|695044|707257|789361|818956|823805|823806|823807|823807|823808|823809|823810|823811|823812|823813|823814|823815|823816|823817|823818|823819|823820|823821|823822|850778|864180|864181|864182|864183|864184|864185|864186|865168|865169|906278|918625|921959|921960|921961|921962|930434|930435|939807|941888|941889|941890|941891|941892|941893|952364|952365|952366|952367|952368|952369|952370", + "upstreamId": "15096|15099|15100|166292|166293|166293|176930|176930|178060|178060|190854|191240|196005|205134|206781|206784|249845|249846|249846|249848|249848|249850|249851|249854|268658|268658|280170|280177|280179|280185|280185|280192|280192|280530|280538|280538|280543|280543|280560|280560|280561|280563|281826|281828|281955|281956|281956|281968|281974|281974|281975|281978|281979|281980|427758|427758|427759|447949|447949|448070|448070|515777|515777|552297|556940|612174|622312|622860|627685|627686|627687|627688|627689|650586|650710|690565|690565|690570|695042|695043|695044|695044|707257|789361|818956|823805|823806|823807|823807|823808|823809|823810|823811|823812|823813|823814|823815|823816|823817|823818|823819|823820|823821|823822|850778|864180|864181|864182|864183|864184|864185|864186|865168|865169|906278|918625|921959|921960|921961|921962|930434|930435|939807|941888|941889|941890|941891|941892|941893|952364|952365|952366|952367|952368|952369|952370", "text": "Bardet-Biedl syndrome 16" }, { - "baseId": "15101|15102|15103", + "upstreamId": "15101|15102|15103", "text": "Tritanopia" }, { - "baseId": "15104|15105|15106|15111|15112|15113|15114|15115|248651|249962|249963|280657|280668|280676|281155|282433|282696|282698|746521|789972|864495|864496|864497|864498|864499|864500|864501|864502|864503|864504|864505|864506|865186|865187|903667", + "upstreamId": "15104|15105|15106|15111|15112|15113|15114|15115|248651|249962|249963|280657|280668|280676|281155|282433|282696|282698|746521|789972|864495|864496|864497|864498|864499|864500|864501|864502|864503|864504|864505|864506|865186|865187|903667", "text": "Familial porphyria cutanea tarda" }, { - "baseId": "15105|15107|15108|15109|15110", + "upstreamId": "15105|15107|15108|15109|15110", "text": "Hepatoerythropoietic porphyria" }, { - "baseId": "15105|75613|75614|281152|281154|282431|282695|282699|353103", + "upstreamId": "15105|75613|75614|281152|281154|282431|282695|282699|353103", "text": "Porphyria cutanea tarda" }, { - "baseId": "15110", + "upstreamId": "15110", "text": "Porphyria cutanea tarda, type I" }, { - "baseId": "15116|15119|15120|15121|190730|192211|253908|253909|311624|311628|311633|311636|311638|311639|311640|311644|311646|311651|311658|317185|317188|317193|317194|317199|317202|317207|317208|317209|317220|317222|317225|317227|323214|323218|323219|323229|323232|323233|323236|323243|323255|323256|323257|323258|323813|323814|323822|323823|323826|323827|323828|323832|323833|545635|545648", + "upstreamId": "15116|15119|15120|15121|190730|192211|253908|253909|311624|311628|311633|311636|311638|311639|311640|311644|311646|311651|311658|317185|317188|317193|317194|317199|317202|317207|317208|317209|317220|317222|317225|317227|323214|323218|323219|323229|323232|323233|323236|323243|323255|323256|323257|323258|323813|323814|323822|323823|323826|323827|323828|323832|323833|545635|545648", "text": "Wolman disease" }, { - "baseId": "15116|15117|15118|15119|15121|94353|190730|192211|193399|195569|199794|205164|253908|253909|266300|273974|274223|311624|311628|311633|311638|311639|311640|311644|317185|317188|317193|317194|317199|317209|317220|317222|317225|323214|323218|323219|323236|323243|323255|323256|323813|323822|323826|323827|323828|323832|323833|423865|460671|489048|490257|490500|492955|525605|545310|545311|545315|545317|545319|545321|545611|545612|545626|545633|545635|545647|545648|545650|545654|545657|545667|545671|545947|545952|545953|564048|569890|585506|585777|586202|586607|587039|587407|589564|589766|639304|652047|683151|683152|683153|683154|683155|683156|683157|683158|683159|683160|683161|683162|683163|683164|683165|683166|683167|683168|683169|683170|683171|683172|683173|683174|683175|683176|683177|683178|683179|683180|683181|683182|683183|683184|737633|737634|737636|744655|752325|768051|768054|768056|768057|768058|768059|775566|779512|783776|783778|820277|820278|820279|837473|851397|857331|866532|866533|866534|866537|866538|866539|866540|866542|866543|866545|866546|866547|866548|868533|868534|919303|925975|935231|935232|935233|940186|947131|959951|972099|972100|972101|972102|978805|978806|978807|978808|978809", + "upstreamId": "15116|15117|15118|15119|15121|94353|190730|192211|193399|195569|199794|205164|253908|253909|266300|273974|274223|311624|311628|311633|311638|311639|311640|311644|317185|317188|317193|317194|317199|317209|317220|317222|317225|323214|323218|323219|323236|323243|323255|323256|323813|323822|323826|323827|323828|323832|323833|423865|460671|489048|490257|490500|492955|525605|545310|545311|545315|545317|545319|545321|545611|545612|545626|545633|545635|545647|545648|545650|545654|545657|545667|545671|545947|545952|545953|564048|569890|585506|585777|586202|586607|587039|587407|589564|589766|639304|652047|683151|683152|683153|683154|683155|683156|683157|683158|683159|683160|683161|683162|683163|683164|683165|683166|683167|683168|683169|683170|683171|683172|683173|683174|683175|683176|683177|683178|683179|683180|683181|683182|683183|683184|737633|737634|737636|744655|752325|768051|768054|768056|768057|768058|768059|775566|779512|783776|783778|820277|820278|820279|837473|851397|857331|866532|866533|866534|866537|866538|866539|866540|866542|866543|866545|866546|866547|866548|868533|868534|919303|925975|935231|935232|935233|940186|947131|959951|972099|972100|972101|972102|978805|978806|978807|978808|978809", "text": "Lysosomal acid lipase deficiency" }, { - "baseId": "15119", + "upstreamId": "15119", "text": "Cholesteryl ester storage disease" }, { - "baseId": "15122|15123|15124|15125|15126|15127|15128|15129|75281|791020", + "upstreamId": "15122|15123|15124|15125|15126|15127|15128|15129|75281|791020", "text": "Urofacial syndrome 1" }, { - "baseId": "15130|15131|15132|15133|15134|70551|194549|194550|253089|253094|253096|304724|304726|304728|304732|304736|304745|304747|304751|304752|304754|304755|304756|304761|304763|308419|308421|308423|308426|308429|308430|308431|308432|308433|308434|313506|313507|313514|313515|313516|313521|313525|313526|313526|313537|313538|313539|313541|313542|313544|313616|313621|313622|313623|313625|313626|313629|313631|313642|313645|413771|497027|536065|536066|577056|577057|626174|679517|680100|700503|777762|777764|790792|790793|800712|800713|800714|800715|800716|800717|800718|800719|800720|800722|800723|800724|800725|800726|800727|800728|800729|800730|800731|800732|800733|800734|800735|800736|800737|800738|800739|800742|800743|800745|800746|800747|800748|800749|800750|800751|899197|899198|899199|899200|899201|899202|899203|899204|899205|899206|899207|899208|899209|899210|899211|899212|899213|899214|899215|899216|899217|899218|899219|899220|899221|899222|899223|899224|899225|899226|899227|900462|900463", + "upstreamId": "15130|15131|15132|15133|15134|70551|194549|194550|253089|253094|253096|304724|304726|304728|304732|304736|304745|304747|304751|304752|304754|304755|304756|304761|304763|308419|308421|308423|308426|308429|308430|308431|308432|308433|308434|313506|313507|313514|313515|313516|313521|313525|313526|313526|313537|313538|313539|313541|313542|313544|313616|313621|313622|313623|313625|313626|313629|313631|313642|313645|413771|497027|536065|536066|577056|577057|626174|679517|680100|700503|777762|777764|790792|790793|800712|800713|800714|800715|800716|800717|800718|800719|800720|800722|800723|800724|800725|800726|800727|800728|800729|800730|800731|800732|800733|800734|800735|800736|800737|800738|800739|800742|800743|800745|800746|800747|800748|800749|800750|800751|899197|899198|899199|899200|899201|899202|899203|899204|899205|899206|899207|899208|899209|899210|899211|899212|899213|899214|899215|899216|899217|899218|899219|899220|899221|899222|899223|899224|899225|899226|899227|900462|900463", "text": "Farber disease" }, { - "baseId": 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+ "upstreamId": 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"text": "Transcolabamin II deficiency" }, { - "baseId": "15136", + "upstreamId": "15136", "text": "TRANSCOBALAMIN II POLYMORPHISM" }, { - "baseId": "15140|15141|15142|15143|15144|177344|177528|190306|190311|192268|267424|285916|288922|288935|289346|490280|512895|590511|818214|859158|905054", + "upstreamId": "15140|15141|15142|15143|15144|177344|177528|190306|190311|192268|267424|285916|288922|288935|289346|490280|512895|590511|818214|859158|905054", "text": "Retinitis pigmentosa 54" }, { - "baseId": "15145|21387|32675", + "upstreamId": "15145|21387|32675", "text": "Bone mineral density quantitative trait locus 15" }, { - "baseId": "15146|15147|15148|15149|38740|38741|38743|38744|151770|184108", + "upstreamId": "15146|15147|15148|15149|38740|38741|38743|38744|151770|184108", "text": "Pheochromocytoma, susceptibility to" }, { - "baseId": 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"text": "Pheochromocytoma" }, { - "baseId": "15150|15151|15152|15153|15154|490107|513104|513105|615891", + "upstreamId": "15150|15151|15152|15153|15154|490107|513104|513105|615891", "text": "Arthrogryposis, renal dysfunction, and cholestasis 2" }, { - "baseId": "15155", + "upstreamId": "15155", "text": "Keratosis linearis with ichthyosis congenita and sclerosing keratoderma" }, { - "baseId": "15156|15170|15171", + "upstreamId": "15156|15170|15171", "text": "Homocystinuria, pyridoxine-nonresponsive" }, { - "baseId": "15156|15159|15165|15168|15169", + "upstreamId": "15156|15159|15165|15168|15169", "text": "HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED" }, { - "baseId": 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"text": "Classic homocystinuria" }, { - "baseId": "15156|15157|15158|15159|15161|15164|15165|15167|15171|29317|98334|187051|187055|187056|187058|187059|187062|196148|199952|210429|210437|210443|210444|336873|336881|346575|346577|350762|358636|358637|358643|358648|471223|488011|488016|621647|621874|800981|848818|906109|917313", + "upstreamId": "15156|15157|15158|15159|15161|15164|15165|15167|15171|29317|98334|187051|187055|187056|187058|187059|187062|196148|199952|210429|210437|210443|210444|336873|336881|346575|346577|350762|358636|358637|358643|358648|471223|488011|488016|621647|621874|800981|848818|906109|917313", "text": "Homocystinuria" }, { - "baseId": 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"text": "Cardiovascular phenotype" }, { - "baseId": "15157|15158|15159|15160|15161|15162|15163|15164|15165|15166|15167", + "upstreamId": "15157|15158|15159|15160|15161|15162|15163|15164|15165|15166|15167", "text": "Homocystinuria, pyridoxine-responsive" }, { - "baseId": 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"text": "none provided" }, { - "baseId": 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"text": "Intellectual disability" }, { - "baseId": "15172", + "upstreamId": "15172", "text": "CYSTATHIONINE BETA-SYNTHETASE POLYMORPHISM" }, { - "baseId": "15173|15174|15175|15176|15177|174132|174688|190344|190346|229679|433987|615805|615806|799588", + "upstreamId": "15173|15174|15175|15176|15177|174132|174688|190344|190346|229679|433987|615805|615806|799588", "text": "Deafness, autosomal recessive 79" }, { - "baseId": 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+ "upstreamId": 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"text": "Brown-Vialetto-Van Laere syndrome 1" }, { - "baseId": 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+ "upstreamId": "15185|15186|15187|15188|15189|15190|15191|15192|15193|15194|15195|15196|15197|15198|15199|15200|15201|15202|15203|15204|15205|15206|15207|15208|15209|15210|15211|15212|15213|15214|15215|15216|15217|15218|15219|15220|15221|15222|70750|70751|70753|70754|70755|70758|70759|70760|70761|70762|70763|70764|70765|70767|70768|70769|70770|70771|70772|70773|70774|70775|70776|70777|70778|70779|70780|177892|190734|195866|309693|309697|309698|309706|309709|309710|314547|314550|314565|320614|320618|320619|320620|320624|320637|321119|321129|321131|321132|321135|321136|321139|360916|361582|437880|459717|460162|460174|460181|460185|525219|525530|545381|563616|564512|588588|590288|638770|638771|651951|692797|692799|692800|695471|723829|737391|759784|759906|767658|775452|783555|800691|818276|836691|836692|852231|865570|865571|865572|865573|865574|865575|865576|865577|865578|865579|865580|865581|865582|865583|865584|868456|925762|925763|925764|934977|940164|946836|946837|946838|956003|956004|956005|978624|978625|978626|978627|978628|978629|978630|978631|978632|978633", "text": "Ornithine aminotransferase deficiency" }, { - "baseId": "15201|15220", + "upstreamId": "15201|15220", "text": "Gyrate atrophy of choroid and retina with pyridoxine-responsive ornithinemia" }, { - "baseId": "15223|15224|15225|15226|106014|106015|106016|106018|106019|106024|106025|106026|106027|106028|106029|303758|303759|303760|303766|303768|307251|307253|307258|307261|307262|312127|312128|312207|312225|312232|359881|619920|620282|711227|898593|898594|898595|898596|898597|898598|898599|898600|898601|898602|898603|898604|898605|898606|898607|898608|900429|961046|961062", + "upstreamId": "15223|15224|15225|15226|106014|106015|106016|106018|106019|106024|106025|106026|106027|106028|106029|303758|303759|303760|303766|303768|307251|307253|307258|307261|307262|312127|312128|312207|312225|312232|359881|619920|620282|711227|898593|898594|898595|898596|898597|898598|898599|898600|898601|898602|898603|898604|898605|898606|898607|898608|900429|961046|961062", "text": "Dihydropyrimidinase deficiency" }, { - "baseId": "15227|15228|15229|15230|70572|191174|191175|191352|213775|251841|251842|251843|251844|271767|273301|296826|296837|296838|296839|296841|296842|296845|296846|296848|296849|296851|296852|296861|296866|296871|296873|296878|296880|296885|296892|296908|296909|296917|296919|296921|296925|296928|296932|296944|296960|298791|298792|298793|298794|298797|298798|298799|298803|298807|298808|298810|298812|298819|298820|298826|298828|298829|298830|298833|298835|298838|298840|298841|298850|298851|298852|298854|303002|303003|303009|303054|303058|303059|303060|303062|303063|303067|303088|303089|303090|303092|303094|303108|303111|303139|303141|303142|303148|303167|303168|303169|303170|303171|303172|303175|303178|303189|303198|303199|303201|303202|303204|303218|303226|303237|303251|303254|303261|303264|303266|303273|303277|303278|303279|303282|303288|303298|303303|303304|303306|488706|491270|493099|538377|709828|735009|788775|893877|893878|893879|893880|893881|893882|893883|893884|893885|893886|893887|893888|893889|893890|893891|893892|893893|893894|893895|893896|893897|893898|893899|893900|893901|893902|893903|893904|893905|893906|893907|893908|893909|893910|893911|893912|893913|893914|893915|893916|893917|893918|893919|893920|893921|893922|893923|893924|893925|893926|893927|893928|893929|893930|893931|893932|893933|893934|893935|893936|893937|893938|893939|893940|893941|893942|893943|893944|893945|893946|893947|893948|893949|893950|893951|893952|896077|896078", + "upstreamId": "15227|15228|15229|15230|70572|191174|191175|191352|213775|251841|251842|251843|251844|271767|273301|296826|296837|296838|296839|296841|296842|296845|296846|296848|296849|296851|296852|296861|296866|296871|296873|296878|296880|296885|296892|296908|296909|296917|296919|296921|296925|296928|296932|296944|296960|298791|298792|298793|298794|298797|298798|298799|298803|298807|298808|298810|298812|298819|298820|298826|298828|298829|298830|298833|298835|298838|298840|298841|298850|298851|298852|298854|303002|303003|303009|303054|303058|303059|303060|303062|303063|303067|303088|303089|303090|303092|303094|303108|303111|303139|303141|303142|303148|303167|303168|303169|303170|303171|303172|303175|303178|303189|303198|303199|303201|303202|303204|303218|303226|303237|303251|303254|303261|303264|303266|303273|303277|303278|303279|303282|303288|303298|303303|303304|303306|488706|491270|493099|538377|709828|735009|788775|893877|893878|893879|893880|893881|893882|893883|893884|893885|893886|893887|893888|893889|893890|893891|893892|893893|893894|893895|893896|893897|893898|893899|893900|893901|893902|893903|893904|893905|893906|893907|893908|893909|893910|893911|893912|893913|893914|893915|893916|893917|893918|893919|893920|893921|893922|893923|893924|893925|893926|893927|893928|893929|893930|893931|893932|893933|893934|893935|893936|893937|893938|893939|893940|893941|893942|893943|893944|893945|893946|893947|893948|893949|893950|893951|893952|896077|896078", "text": "Frank-Ter Haar syndrome" }, { - "baseId": "15231|553277", + "upstreamId": "15231|553277", "text": "Spinocerebellar ataxia type 8" }, { - "baseId": "15232|15233|15234|15235|53055|53056|53057|53058|173952|229177|293452|293455|293459|294857|298476|298478|298497|298501|298503|298550|298551|298553|298554|298567|513051|620164|890679|890680|890681|975781", + "upstreamId": "15232|15233|15234|15235|53055|53056|53057|53058|173952|229177|293452|293455|293459|294857|298476|298478|298497|298501|298503|298550|298551|298553|298554|298567|513051|620164|890679|890680|890681|975781", "text": "Deafness, autosomal recessive 25" }, { - "baseId": "15236|15236|15237|71023|71023|131828|131829|190353|190354|193481|214309|214310|214311|254216|254219|267184|274218|274218|314373|314380|320991|320993|320997|320998|320999|321003|327057|327058|327075|327082|327091|328152|328160|328166|357972|357973|357974|357975|357976|444839|490294|546039|546040|546321|546327|546451|546455|546462|546470|546472|546474|546667|546677|546686|546690|588035|588644|589661|687793|687794|695529|838578|838580|868159|868160|868161|868162|868163|868164|868165|868166|868167|868663|979013|979014|979015", + "upstreamId": "15236|15236|15237|71023|71023|131828|131829|190353|190354|193481|214309|214310|214311|254216|254219|267184|274218|274218|314373|314380|320991|320993|320997|320998|320999|321003|327057|327058|327075|327082|327091|328152|328160|328166|357972|357973|357974|357975|357976|444839|490294|546039|546040|546321|546327|546451|546455|546462|546470|546472|546474|546667|546677|546686|546690|588035|588644|589661|687793|687794|695529|838578|838580|868159|868160|868161|868162|868163|868164|868165|868166|868167|868663|979013|979014|979015", "text": "Joubert syndrome 2" }, { - "baseId": "15236|15236|15237|15238|15239|71023|71023|131828|131829|190353|190354|254216|254219|267184|274218|274218|314373|314380|320991|320993|320997|320998|320999|321003|327057|327058|327075|327082|327091|328152|328160|328166|357972|357973|357974|357975|357976|546039|546040|546321|546327|546451|546455|546462|546470|546472|546474|546667|546677|546686|546690|589661|868159|868160|868161|868162|868163|868164|868165|868166|868167|868663", + "upstreamId": "15236|15236|15237|15238|15239|71023|71023|131828|131829|190353|190354|254216|254219|267184|274218|274218|314373|314380|320991|320993|320997|320998|320999|321003|327057|327058|327075|327082|327091|328152|328160|328166|357972|357973|357974|357975|357976|546039|546040|546321|546327|546451|546455|546462|546470|546472|546474|546667|546677|546686|546690|589661|868159|868160|868161|868162|868163|868164|868165|868166|868167|868663", "text": "Meckel syndrome, type 2" }, { - "baseId": 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"text": "Joubert syndrome" }, { - "baseId": "15236|71023", + "upstreamId": "15236|71023", "text": "TMEM216-Related Disorders" }, { - "baseId": "15240|15241|15242|33438|166127|488186|488187|488188|488189|488190|488191|488192|488193|488194|488195|488196|488197|488198|488199|488200|488201|488202|488203|550626|614428|715000|788899|937523", + "upstreamId": "15240|15241|15242|33438|166127|488186|488187|488188|488189|488190|488191|488192|488193|488194|488195|488196|488197|488198|488199|488200|488201|488202|488203|550626|614428|715000|788899|937523", "text": "Poikiloderma with neutropenia" }, { - "baseId": "15243|15244|15245|15246|442563", + "upstreamId": "15243|15244|15245|15246|442563", "text": "Thyrotoxic periodic paralysis 2" }, { - "baseId": "15243|15244|15246|32666|32667|32668|152920|152921|152923|152924|152925|152926|447524|447676|556752|576456", + "upstreamId": "15243|15244|15246|32666|32667|32668|152920|152921|152923|152924|152925|152926|447524|447676|556752|576456", "text": "Thyrotoxic periodic paralysis, susceptibility to, 1" }, { - "baseId": "15247|15248|15250|15251|15252|15253|15254|15255|15256|15257|206589|206590|333091|333095|333098|333102|333104|333116|333117|333119|333120|333123|333124|333125|343197|343199|343206|343207|343212|343215|343216|343218|343220|343225|343228|343230|343232|343234|343243|348563|348564|348565|348566|348567|348569|348572|348575|348577|348578|348585|348586|349644|349646|349647|349649|349650|349652|349653|349656|349659|349660|349661|349663|349664|349665|349666|513660|587745|716363|716364|716365|716369|792814|798744|798745|880271|880272|880273|880274|880275|880276|880277|880278|880279|880280|880281|880282|880283|880284|880285|880286|880287|880727|880728", + "upstreamId": "15247|15248|15250|15251|15252|15253|15254|15255|15256|15257|206589|206590|333091|333095|333098|333102|333104|333116|333117|333119|333120|333123|333124|333125|343197|343199|343206|343207|343212|343215|343216|343218|343220|343225|343228|343230|343232|343234|343243|348563|348564|348565|348566|348567|348569|348572|348575|348577|348578|348585|348586|349644|349646|349647|349649|349650|349652|349653|349656|349659|349660|349661|349663|349664|349665|349666|513660|587745|716363|716364|716365|716369|792814|798744|798745|880271|880272|880273|880274|880275|880276|880277|880278|880279|880280|880281|880282|880283|880284|880285|880286|880287|880727|880728", "text": "Prolidase deficiency" }, { - "baseId": "15258", + "upstreamId": "15258", "text": "Aspartylglucosaminuria, finnish type" }, { - "baseId": "15258|15259|15260|15261|15262|15263|15264|15265|15266|15267|15268|70577|70578|70579|70580|70581|70582|70583|70584|70585|70586|70587|70588|70589|70590|70591|70592|70593|98218|98219|98220|98221|186679|251371|274821|275494|292917|292920|292921|294280|294289|294294|294295|294296|294298|294300|297725|297726|297728|297735|297737|297738|297739|297747|297749|297820|297823|297829|297836|297837|297838|297839|297850|357328|357329|357330|357331|357332|357333|357334|357335|357336|359615|364242|367915|414968|487014|520079|543094|543096|543097|543366|543372|543382|543383|543388|543390|543392|543429|543441|563591|581752|612269|626142|632092|632093|651166|698437|709240|720841|734523|764382|764384|764385|764386|774894|777471|781902|781903|819465|828960|828961|828962|828963|828964|890484|890485|890486|890487|890488|890489|890490|890491|890492|890493|890494|890495|890496|890497|890498|890499|890500|891777|920201|939965|943904|943905|943906|953724|953725|978059|978060|978061|978062|978063|978064|978065|978066|978067|978068", + "upstreamId": "15258|15259|15260|15261|15262|15263|15264|15265|15266|15267|15268|70577|70578|70579|70580|70581|70582|70583|70584|70585|70586|70587|70588|70589|70590|70591|70592|70593|98218|98219|98220|98221|186679|251371|274821|275494|292917|292920|292921|294280|294289|294294|294295|294296|294298|294300|297725|297726|297728|297735|297737|297738|297739|297747|297749|297820|297823|297829|297836|297837|297838|297839|297850|357328|357329|357330|357331|357332|357333|357334|357335|357336|359615|364242|367915|414968|487014|520079|543094|543096|543097|543366|543372|543382|543383|543388|543390|543392|543429|543441|563591|581752|612269|626142|632092|632093|651166|698437|709240|720841|734523|764382|764384|764385|764386|774894|777471|781902|781903|819465|828960|828961|828962|828963|828964|890484|890485|890486|890487|890488|890489|890490|890491|890492|890493|890494|890495|890496|890497|890498|890499|890500|891777|920201|939965|943904|943905|943906|953724|953725|978059|978060|978061|978062|978063|978064|978065|978066|978067|978068", "text": "Aspartylglucosaminuria" }, { - "baseId": "15269|514848|514849", + "upstreamId": "15269|514848|514849", "text": "Methemoglobinemia type 4" }, { - "baseId": "15270|15271|15272|171258|322861|322863|322864|322866|322867|322868|322874|322923|322926|322927|322945|322946|322958|322959|322963|322970|322975|332379|332385|332386|332393|332398|332435|332450|332454|332477|332479|332489|332501|332507|332513|332514|332516|339412|339420|339438|339441|339457|339467|339480|340805|340807|340823|340845|340864|340877|340881|340889|340893|340894|340899|340900|340915|340916|513221|513223|620873|873806|873808|873809|873810|873811|873812|873813|873814|873815|873816|873817|873818|873819|873820|873821|873822|873823|873825|873826|873827|873828|873829|873830|873831|873833|873834|873835|873836|873837|873838|873839|873840|873841|873842|873843|873844|873845|873846|873847|873848|873849|873850|873851|873852|873853|873854|873855|873856|873857|873858|873859|873860|873861|873862|873863|873864|873865|873866|873867|873868|873869|873870|873871|873872|873873|873874|873875|876538|876539|876541|876542|876543", + "upstreamId": "15270|15271|15272|171258|322861|322863|322864|322866|322867|322868|322874|322923|322926|322927|322945|322946|322958|322959|322963|322970|322975|332379|332385|332386|332393|332398|332435|332450|332454|332477|332479|332489|332501|332507|332513|332514|332516|339412|339420|339438|339441|339457|339467|339480|340805|340807|340823|340845|340864|340877|340881|340889|340893|340894|340899|340900|340915|340916|513221|513223|620873|873806|873808|873809|873810|873811|873812|873813|873814|873815|873816|873817|873818|873819|873820|873821|873822|873823|873825|873826|873827|873828|873829|873830|873831|873833|873834|873835|873836|873837|873838|873839|873840|873841|873842|873843|873844|873845|873846|873847|873848|873849|873850|873851|873852|873853|873854|873855|873856|873857|873858|873859|873860|873861|873862|873863|873864|873865|873866|873867|873868|873869|873870|873871|873872|873873|873874|873875|876538|876539|876541|876542|876543", "text": "Amelogenesis imperfecta, hypomaturation type, IIA3" }, { - "baseId": "15273|15277|15278|15279|15280|15281|15282|15284|15286|15287", + "upstreamId": "15273|15277|15278|15279|15280|15281|15282|15284|15286|15287", "text": "Methemoglobinemia type 2" }, { - "baseId": "15274|15275|15276|15285|15288|15289|15290|15291|798115|815836|815837|815838", + "upstreamId": "15274|15275|15276|15285|15288|15289|15290|15291|798115|815836|815837|815838", "text": "Methemoglobinemia, type I" }, { - "baseId": "15283", + "upstreamId": "15283", "text": "NADH-CYTOCHROME b5 REDUCTASE POLYMORPHISM" }, { - "baseId": "15284|789808|977297", + "upstreamId": "15284|789808|977297", "text": "Deficiency of cytochrome-b5 reductase" }, { - "baseId": "15292|15293|15294|15295|15296|15297|15298|15299|15300|15301|139203|139204|139205|139208|139210|139211|139212|139213|139214|139215|139216|139217|139218|139219|139220|139221|139222|139223|139224|139225|139226|139228|139229|139230|139231|187973|187974|187975|187976|187978|187980|250968|250969|250971|250975|262034|262035|262036|288985|288989|288990|288994|288999|289717|289718|289736|289737|289740|289741|289742|289744|289748|292706|292719|292735|292745|292757|292759|292768|292777|292778|292971|292972|292973|292979|292990|292991|293016|293035|293036|432247|487043|542797|542798|542803|542805|542808|542809|542812|542813|542815|542951|542956|542964|542971|542973|542977|542983|542987|542991|542992|542993|542995|542996|542997|542999|543000|543001|543002|543003|543005|543007|543009|543010|543011|543012|543014|543016|543018|543019|543020|543024|543025|543026|543028|543030|543032|543035|543036|543038|543040|543047|543049|543052|543055|543059|543061|543062|543064|543065|543068|543069|543071|543073|543077|543087|552070|623133|683544|683546|720219|720220|720222|733843|733846|759237|763662|781572|790339|790340|792734|888054|888055|888056|888057|888058|888059|888060|888061|888062|888063|888064|888065|888066|888067|888068|888069|888070|888071|888072|888073|888074|888075|888076|888077|888078|888079|888080|888081|888082|888083|891577|891578|891579|891580|891581|904908|904909|904910", + "upstreamId": "15292|15293|15294|15295|15296|15297|15298|15299|15300|15301|139203|139204|139205|139208|139210|139211|139212|139213|139214|139215|139216|139217|139218|139219|139220|139221|139222|139223|139224|139225|139226|139228|139229|139230|139231|187973|187974|187975|187976|187978|187980|250968|250969|250971|250975|262034|262035|262036|288985|288989|288990|288994|288999|289717|289718|289736|289737|289740|289741|289742|289744|289748|292706|292719|292735|292745|292757|292759|292768|292777|292778|292971|292972|292973|292979|292990|292991|293016|293035|293036|432247|487043|542797|542798|542803|542805|542808|542809|542812|542813|542815|542951|542956|542964|542971|542973|542977|542983|542987|542991|542992|542993|542995|542996|542997|542999|543000|543001|543002|543003|543005|543007|543009|543010|543011|543012|543014|543016|543018|543019|543020|543024|543025|543026|543028|543030|543032|543035|543036|543038|543040|543047|543049|543052|543055|543059|543061|543062|543064|543065|543068|543069|543071|543073|543077|543087|552070|623133|683544|683546|720219|720220|720222|733843|733846|759237|763662|781572|790339|790340|792734|888054|888055|888056|888057|888058|888059|888060|888061|888062|888063|888064|888065|888066|888067|888068|888069|888070|888071|888072|888073|888074|888075|888076|888077|888078|888079|888080|888081|888082|888083|891577|891578|891579|891580|891581|904908|904909|904910", "text": "Xeroderma pigmentosum, group C" }, { - "baseId": "15297|15298|15301|16033|16034|31605|31615|187973|187975|187980|208243|227299|259252|259693|262035|281797|282419|284079|288952|288959|288962|288963|288985|288989|288995|289707|289712|289736|289741|292653|292656|292665|292703|292885|292907|292911|292973|292975|292979|292990|293006|300294|300321|300324|300332|303027|303077|303106|303110|303140|303145|303147|307462|307472|307507|307584|307608|307626|307722|307743|307798|307800|309055|314262|319623|320876|327922|340564|343775|349077|349972|353260|353261|353538|432247|486987|487043|497233|542815|543019|543068|545011|545299|545337|545406|916903|916904|917127", + "upstreamId": "15297|15298|15301|16033|16034|31605|31615|187973|187975|187980|208243|227299|259252|259693|262035|281797|282419|284079|288952|288959|288962|288963|288985|288989|288995|289707|289712|289736|289741|292653|292656|292665|292703|292885|292907|292911|292973|292975|292979|292990|293006|300294|300321|300324|300332|303027|303077|303106|303110|303140|303145|303147|307462|307472|307507|307584|307608|307626|307722|307743|307798|307800|309055|314262|319623|320876|327922|340564|343775|349077|349972|353260|353261|353538|432247|486987|487043|497233|542815|543019|543068|545011|545299|545337|545406|916903|916904|917127", "text": "Xeroderma pigmentosum" }, { - "baseId": "15302|15303|15304|15305|15306|76406|176018|176020|176021|176022|176023|176161|176162|176163|176164|176165|176166|177676|213225|230664|230665|230666|230667|230668|230670|230671|242519|242521|242522|242523|242524|242525|242528|255914|255916|255917|255918|255921|255922|255924|255926|255929|255933|255934|255935|270915|326486|326488|326490|326494|326498|336292|336294|336295|336300|336302|342502|342505|342507|342510|342512|342516|342523|344144|344146|344148|401355|401359|401877|530607|530876|538457|684631|685426|688670|844420|844426|844428|876059|876060|876061|876062|876063|876064|876065|876066|876067|876068|876069|876070|876071|876724|876725|876726|876727", + "upstreamId": "15302|15303|15304|15305|15306|76406|176018|176020|176021|176022|176023|176161|176162|176163|176164|176165|176166|177676|213225|230664|230665|230666|230667|230668|230670|230671|242519|242521|242522|242523|242524|242525|242528|255914|255916|255917|255918|255921|255922|255924|255926|255929|255933|255934|255935|270915|326486|326488|326490|326494|326498|336292|336294|336295|336300|336302|342502|342505|342507|342510|342512|342516|342523|344144|344146|344148|401355|401359|401877|530607|530876|538457|684631|685426|688670|844420|844426|844428|876059|876060|876061|876062|876063|876064|876065|876066|876067|876068|876069|876070|876071|876724|876725|876726|876727", "text": "Ciliary dyskinesia, primary, 13" }, { - "baseId": "15302|15306|15568|19993|20643|20644|20645|20646|39773|40205|40206|40207|40357|40358|48236|48297|48298|70497|70498|76611|76612|76629|76931|76936|76951|77872|77873|77874|77875|77879|94261|94263|94265|94269|94270|94432|143224|143225|143226|143227|143228|143235|166145|166146|167456|174693|174694|175107|175109|191937|194954|205407|205551|205552|205553|205554|205555|205556|205557|205558|205559|205560|205561|205562|205563|205564|205565|212669|221828|229686|240608|240610|240612|240613|253512|308215|308217|308221|308227|308228|308232|318484|318491|318494|318495|319006|319009|319010|319019|396873|459131|459429|459516|481248|481249|481250|525082|525084|545009|545244|563190|563920|638205|684089|684096|759741|901938|901939|901940|901941|901942|901943|901944|901945|901946|901947|901948|901949|901950|901951|901952|903391|903392|980935|983857", + "upstreamId": "15302|15306|15568|19993|20643|20644|20645|20646|39773|40205|40206|40207|40357|40358|48236|48297|48298|70497|70498|76611|76612|76629|76931|76936|76951|77872|77873|77874|77875|77879|94261|94263|94265|94269|94270|94432|143224|143225|143226|143227|143228|143235|166145|166146|167456|174693|174694|175107|175109|191937|194954|205407|205551|205552|205553|205554|205555|205556|205557|205558|205559|205560|205561|205562|205563|205564|205565|212669|221828|229686|240608|240610|240612|240613|253512|308215|308217|308221|308227|308228|308232|318484|318491|318494|318495|319006|319009|319010|319019|396873|459131|459429|459516|481248|481249|481250|525082|525084|545009|545244|563190|563920|638205|684089|684096|759741|901938|901939|901940|901941|901942|901943|901944|901945|901946|901947|901948|901949|901950|901951|901952|903391|903392|980935|983857", "text": "Kartagener syndrome" }, { - "baseId": 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"text": "Primary ciliary dyskinesia" }, { - "baseId": 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"text": "Dilated cardiomyopathy 1DD" }, { - "baseId": 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"text": "Primary dilated cardiomyopathy" }, { - "baseId": 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"text": "Dilated cardiomyopathy 1A" }, { - "baseId": "15310|19768|23647|24435|27237|40479|49056|51797|51822|51920|51941|52071|52096|52135|52175|52809|53150|53190|53485|53680|53712|54073|54098|54246|54693|54748|56466|56562|57199|57240|57257|77735|77782|78664|78727|172357|172497|172608|172662|172968|173096|173871|173922|175485|175638|178436|178940|179175|189870|192373|194683|196456|198090|198307|198316|198562|204080|225057|226460|229486|229744|229746|229913|236815|258656|265379|397400|397403|397602|398280|407816|409090|416230|421324|421334|444822|481620|496342|508202|509205|510362|511043|511044|511055|511066|511082|511083|511085|511086|511098|511105|511109|511110|511116|511136|511143|514342|514344|589807|639084|639202|672372|672373|672374|672378|672381|672383|672384|672387|672388|672390|672391|672402|672404|672405|672408|672410|672411|672412|672414|672432|672439|672446|672458|672459|672461|672464|672465|904188|965824", + "upstreamId": "15310|19768|23647|24435|27237|40479|49056|51797|51822|51920|51941|52071|52096|52135|52175|52809|53150|53190|53485|53680|53712|54073|54098|54246|54693|54748|56466|56562|57199|57240|57257|77735|77782|78664|78727|172357|172497|172608|172662|172968|173096|173871|173922|175485|175638|178436|178940|179175|189870|192373|194683|196456|198090|198307|198316|198562|204080|225057|226460|229486|229744|229746|229913|236815|258656|265379|397400|397403|397602|398280|407816|409090|416230|421324|421334|444822|481620|496342|508202|509205|510362|511043|511044|511055|511066|511082|511083|511085|511086|511098|511105|511109|511110|511116|511136|511143|514342|514344|589807|639084|639202|672372|672373|672374|672378|672381|672383|672384|672387|672388|672390|672391|672402|672404|672405|672408|672410|672411|672412|672414|672432|672439|672446|672458|672459|672461|672464|672465|904188|965824", "text": "Primary familial dilated cardiomyopathy" }, { - "baseId": 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"text": "Cardiomyopathy" }, { - "baseId": "15312", + "upstreamId": "15312", "text": "Classic Hodgkin lymphoma" }, { - "baseId": "15313|15314|15315", + "upstreamId": "15313|15314|15315", "text": "Alpha-2-plasmin inhibitor deficiency" }, { - "baseId": "15316|15317|15318|15319|15320|15321|15322|17573|39970|39971|39972|39973|39974|39975|39976|49864|132691|132694|192559|264867|270856|330334|330336|330343|330344|330352|330356|330361|330366|330368|330370|330372|330373|330374|330378|330380|330387|340560|340561|340568|340570|340574|340584|340589|340591|340594|340596|346262|346263|346264|346270|346271|346274|346278|346285|346289|346294|347587|347588|347594|347597|347598|347601|347605|347606|347615|347616|347619|347622|347625|347626|347629|347631|347633|347634|347635|360238|376729|465131|513647|529227|529502|529523|539076|567707|569572|573744|620611|643961|643962|643963|643964|703528|703529|703530|714761|714762|714763|714764|714765|714766|714767|715764|715765|726464|726465|726466|726468|727487|739997|741095|756192|771887|785158|785776|788013|797266|797611|843207|843208|843209|843210|843211|843212|878689|878690|878691|878692|878693|878694|878695|878696|878697|878698|878699|878700|878701|878702|878703|878704|878705|878706|878707|878708|878709|878710|878711|878712|878713|878714|878715|878716|878717|878718|878719|880611|927580|937252|937253|949210|949211|960137", + "upstreamId": "15316|15317|15318|15319|15320|15321|15322|17573|39970|39971|39972|39973|39974|39975|39976|49864|132691|132694|192559|264867|270856|330334|330336|330343|330344|330352|330356|330361|330366|330368|330370|330372|330373|330374|330378|330380|330387|340560|340561|340568|340570|340574|340584|340589|340591|340594|340596|346262|346263|346264|346270|346271|346274|346278|346285|346289|346294|347587|347588|347594|347597|347598|347601|347605|347606|347615|347616|347619|347622|347625|347626|347629|347631|347633|347634|347635|360238|376729|465131|513647|529227|529502|529523|539076|567707|569572|573744|620611|643961|643962|643963|643964|703528|703529|703530|714761|714762|714763|714764|714765|714766|714767|715764|715765|726464|726465|726466|726468|727487|739997|741095|756192|771887|785158|785776|788013|797266|797611|843207|843208|843209|843210|843211|843212|878689|878690|878691|878692|878693|878694|878695|878696|878697|878698|878699|878700|878701|878702|878703|878704|878705|878706|878707|878708|878709|878710|878711|878712|878713|878714|878715|878716|878717|878718|878719|880611|927580|937252|937253|949210|949211|960137", "text": "Desbuquois dysplasia 1" }, { - "baseId": "15323|15324|15325|15331|15340|15343|15344|15345|15346|15357|106145|106207", + "upstreamId": "15323|15324|15325|15331|15340|15343|15344|15345|15346|15357|106145|106207", "text": "von Willebrand disease, type 2a" }, { - "baseId": "15323|15324|15327|15328|15329|15334|15335|15337|15342|15347|15349|15353|39966|106065|106073|106083|106101|106123|106133|106134|106141|106146|106156|106165|106171|106182|106184|106187|106196|106200|106203|106204|106206|106207|106210|106214|106215|106221|106240|106246|106249|106268|106295|106297|106300|106313|106316|106320|106326|106337|106344|106346|106363|106364|192818|193826|195905|237320|254650|254651|254653|254654|254656|254657|254658|254659|254660|254661|254663|254664|254668|254669|254670|254671|254672|254673|254675|254678|254679|254680|254681|254682|254683|254684|254685|254688|254689|254691|254692|254693|254694|254695|254696|254697|254698|254700|254702|254703|266166|318184|318189|318191|318192|318199|318201|318204|318206|318208|318210|318213|318216|318218|326196|326200|326201|326202|326203|326204|326207|326223|326224|326225|332362|332367|332374|332389|332394|332400|332402|332410|332415|332417|332422|332423|332424|332434|332437|332441|332442|332448|332451|332456|332457|334011|334012|334018|334024|334026|334028|334030|334034|334036|334042|334043|334048|334055|334057|334058|334059|334061|334071|334078|334080|360133|373235|404808|432749|497420|551722|611314|615459|615460|615461|615462|615465|615466|615467|615468|615471|615472|615475|615477|615478|615480|615481|615482|615483|615484|615485|615486|615487|615488|615491|615494|615495|615501|615502|615503|615504|615505|615507|615509|615510|615511|615512|615513|615514|615515|615516|615517|615518|615519|615734|615736|615737|615738|615869|615870|615871|620449|620450|620451|620452|620453|789690|872158|872160|872161|872162|872163|872164|872165|872166", + "upstreamId": "15323|15324|15327|15328|15329|15334|15335|15337|15342|15347|15349|15353|39966|106065|106073|106083|106101|106123|106133|106134|106141|106146|106156|106165|106171|106182|106184|106187|106196|106200|106203|106204|106206|106207|106210|106214|106215|106221|106240|106246|106249|106268|106295|106297|106300|106313|106316|106320|106326|106337|106344|106346|106363|106364|192818|193826|195905|237320|254650|254651|254653|254654|254656|254657|254658|254659|254660|254661|254663|254664|254668|254669|254670|254671|254672|254673|254675|254678|254679|254680|254681|254682|254683|254684|254685|254688|254689|254691|254692|254693|254694|254695|254696|254697|254698|254700|254702|254703|266166|318184|318189|318191|318192|318199|318201|318204|318206|318208|318210|318213|318216|318218|326196|326200|326201|326202|326203|326204|326207|326223|326224|326225|332362|332367|332374|332389|332394|332400|332402|332410|332415|332417|332422|332423|332424|332434|332437|332441|332442|332448|332451|332456|332457|334011|334012|334018|334024|334026|334028|334030|334034|334036|334042|334043|334048|334055|334057|334058|334059|334061|334071|334078|334080|360133|373235|404808|432749|497420|551722|611314|615459|615460|615461|615462|615465|615466|615467|615468|615471|615472|615475|615477|615478|615480|615481|615482|615483|615484|615485|615486|615487|615488|615491|615494|615495|615501|615502|615503|615504|615505|615507|615509|615510|615511|615512|615513|615514|615515|615516|615517|615518|615519|615734|615736|615737|615738|615869|615870|615871|620449|620450|620451|620452|620453|789690|872158|872160|872161|872162|872163|872164|872165|872166", "text": "von Willebrand disorder" }, { - "baseId": "15326|15327|15328|15329|15330|15341|15353", + "upstreamId": "15326|15327|15328|15329|15330|15341|15353", "text": "von Willebrand disease, type 2b" }, { - "baseId": "15327|15329|15335|15335|15349|15353|39966|39967|39969|106073|106207|106327|106364|373235|404808|615480|615489|615490|615493|615496|615497|615498|920305|920306", + "upstreamId": "15327|15329|15335|15335|15349|15353|39966|39967|39969|106073|106207|106327|106364|373235|404808|615480|615489|615490|615493|615496|615497|615498|920305|920306", "text": "von Willebrand disease type 2" }, { - "baseId": "15327|15332|15335|25284|25305|106100|106151|106152|106237|106299|213664|360133|446595|611369|615464|615474|615476|615479|615492|615500|615529|615532|615534|615664|615666|615671|615675|615678|615680|615760|615761|615763", + "upstreamId": "15327|15332|15335|25284|25305|106100|106151|106152|106237|106299|213664|360133|446595|611369|615464|615474|615476|615479|615492|615500|615529|615532|615534|615664|615666|615671|615675|615678|615680|615760|615761|615763", "text": "Abnormality of coagulation" }, { - "baseId": "15332", + "upstreamId": "15332", "text": "VON WILLEBRAND FACTOR POLYMORPHISM" }, { - "baseId": "15332|15335|15335|15336|15337|15347|15348|39965|39968|106073|106207|106327|106364|373235|404808|615476|615499|615506|615731|788870|816014|818299|969566|977260", + "upstreamId": "15332|15335|15335|15336|15337|15347|15348|39965|39968|106073|106207|106327|106364|373235|404808|615476|615499|615506|615731|788870|816014|818299|969566|977260", "text": "von Willebrand disease type 1" }, { - "baseId": "15333|15334|15335|15351|15352|15355|15356", + "upstreamId": "15333|15334|15335|15351|15352|15355|15356", "text": "von Willebrand disease type 2N" }, { - "baseId": "15333|15335|15342|19329|19366|26930|27100|27115|28365|29111|29113|31443|33062|87115|99670|106097|106102|106207|106344|138576|171096|171155|186682|186683|186693|195055|206772|209505|209967|210003|227440|227441|268076|272704|277248|281392|286637|290794|290831|304919|333314|334918|344553|350743|360133|361018|361019|411535|445070|459194|496315|496315|538367|538367|543462|552368|615274|615338|615369|615374|615378|615391|615393|615451|615508|615526|615534|615535|615557|615565|615584|615590|615603|615609|615610|615610|615611|615612|615613|615614|615635|615639|615689|615746|615849|615850|615861|615867|621059|684682|701301|709203|718365|795237|795388|796175|797556|848160|860660|870793|882731|889173|889189|904690|958947|976735|976736|976737|976738|976739|976740|976741|976742|976743|976744|976745|976746|976747|976748|976749|976750|976751|976752|976753|976754|976755|976756|976757|976758|976759|976760|976761|976762|976763|976764|976765|976766|976767|976768|976769|976770|976771|976772|976773|976774|976775|976776|976777|976778|976779|976780|976781|976782|976783|976784|976785|976786|976787|976788|976789|976790|976791|976792|976793|976794|976795|976796|976797|976798|976799|976800|976801|976802|976803|976804|976805|976806|976807|976808|976809|976810|976811", + "upstreamId": "15333|15335|15342|19329|19366|26930|27100|27115|28365|29111|29113|31443|33062|87115|99670|106097|106102|106207|106344|138576|171096|171155|186682|186683|186693|195055|206772|209505|209967|210003|227440|227441|268076|272704|277248|281392|286637|290794|290831|304919|333314|334918|344553|350743|360133|361018|361019|411535|445070|459194|496315|496315|538367|538367|543462|552368|615274|615338|615369|615374|615378|615391|615393|615451|615508|615526|615534|615535|615557|615565|615584|615590|615603|615609|615610|615610|615611|615612|615613|615614|615635|615639|615689|615746|615849|615850|615861|615867|621059|684682|701301|709203|718365|795237|795388|796175|797556|848160|860660|870793|882731|889173|889189|904690|958947|976735|976736|976737|976738|976739|976740|976741|976742|976743|976744|976745|976746|976747|976748|976749|976750|976751|976752|976753|976754|976755|976756|976757|976758|976759|976760|976761|976762|976763|976764|976765|976766|976767|976768|976769|976770|976771|976772|976773|976774|976775|976776|976777|976778|976779|976780|976781|976782|976783|976784|976785|976786|976787|976788|976789|976790|976791|976792|976793|976794|976795|976796|976797|976798|976799|976800|976801|976802|976803|976804|976805|976806|976807|976808|976809|976810|976811", "text": "Abnormal bleeding" }, { - "baseId": "15335|106073|106099|106102|106327|106358|106364|373235|404808|611369|615463|615469|615470|615473|615731|615732|615733|615735|615868|791269|964853", + "upstreamId": "15335|106073|106099|106102|106327|106358|106364|373235|404808|611369|615463|615469|615470|615473|615731|615732|615733|615735|615868|791269|964853", "text": "Von Willebrand disease, recessive form" }, { - "baseId": "15335|19194|19329|19366|25463|26162|26930|28365|28568|29111|29113|29121|29197|31079|31956|33062|39810|59386|59387|87115|99670|106102|106344|133499|138563|138576|139302|166055|171096|171155|171928|171929|171930|188069|188069|188070|188070|193571|195055|206772|209505|209967|227440|227441|227504|250588|253731|253742|253743|253744|253745|253748|253749|253751|253752|253753|253755|253758|253759|267766|268076|272704|277248|281392|286637|290794|290831|302629|302639|302677|302692|302700|304919|306034|306062|310140|310163|310166|310168|310169|310173|310175|310181|310182|310188|310190|310191|310193|310197|310210|310716|310720|310790|310795|310979|311014|315193|315228|315253|315270|315283|315284|315293|315295|315297|315299|315301|315306|321249|321267|321292|321303|321306|321770|321798|321916|321927|321931|321932|321943|321944|321954|321957|321964|321970|321971|333314|334918|344553|350743|360133|360836|411535|411535|429062|445070|470586|496315|538367|552368|552368|552369|585411|590073|610162|612061|612066|615338|615346|615419|615422|615423|615432|615433|615434|615435|615436|615437|615438|615439|615455|615456|615457|615458|615550|615552|615553|615554|615559|615560|615562|615564|615570|615591|615592|615597|615598|615599|615600|615602|615610|615616|615618|615619|615626|615627|615628|615631|615634|615635|615635|615636|615638|615640|615641|615642|615644|615645|615647|615648|615660|615714|615716|615721|615853|615863|621059|684682|701301|701302|709203|712315|718365|795237|795388|796175|797556|801073|801087|801117|801118|801119|801128|801171|801204|801205|801206|801207|801208|801209|801210|801211|801226|801252|848160|860660|865801|865802|865803|865804|865805|865806|865807|865808|865809|865810|865811|865812|865813|865814|865815|865816|865817|865818|865819|865820|865821|865822|865823|865824|868470|870793|882731|889173|889189|904690|958947|976735|976736|976737|976738|976739|976740|976741|976742|976743|976744|976745|976746|976747|976748|976749|976750|976751|976752|976753|976754|976755|976756|976757|976758|976759|976760|976761|976762|976763|976764|976765|976766|976767|976768|976769|976770|976771|976772|976773|976774|976775|976776|976777|976778|976779|976780|976781|976782|976783|976784|976785|976786|976787|976788|976789|976790|976791|976792|976793|976794|976795|976796|976797|976798|976799|976800|976801|976802|976803|976804|976805|976806|976807|976808|976809|976810|976811", + "upstreamId": "15335|19194|19329|19366|25463|26162|26930|28365|28568|29111|29113|29121|29197|31079|31956|33062|39810|59386|59387|87115|99670|106102|106344|133499|138563|138576|139302|166055|171096|171155|171928|171929|171930|188069|188069|188070|188070|193571|195055|206772|209505|209967|227440|227441|227504|250588|253731|253742|253743|253744|253745|253748|253749|253751|253752|253753|253755|253758|253759|267766|268076|272704|277248|281392|286637|290794|290831|302629|302639|302677|302692|302700|304919|306034|306062|310140|310163|310166|310168|310169|310173|310175|310181|310182|310188|310190|310191|310193|310197|310210|310716|310720|310790|310795|310979|311014|315193|315228|315253|315270|315283|315284|315293|315295|315297|315299|315301|315306|321249|321267|321292|321303|321306|321770|321798|321916|321927|321931|321932|321943|321944|321954|321957|321964|321970|321971|333314|334918|344553|350743|360133|360836|411535|411535|429062|445070|470586|496315|538367|552368|552368|552369|585411|590073|610162|612061|612066|615338|615346|615419|615422|615423|615432|615433|615434|615435|615436|615437|615438|615439|615455|615456|615457|615458|615550|615552|615553|615554|615559|615560|615562|615564|615570|615591|615592|615597|615598|615599|615600|615602|615610|615616|615618|615619|615626|615627|615628|615631|615634|615635|615635|615636|615638|615640|615641|615642|615644|615645|615647|615648|615660|615714|615716|615721|615853|615863|621059|684682|701301|701302|709203|712315|718365|795237|795388|796175|797556|801073|801087|801117|801118|801119|801128|801171|801204|801205|801206|801207|801208|801209|801210|801211|801226|801252|848160|860660|865801|865802|865803|865804|865805|865806|865807|865808|865809|865810|865811|865812|865813|865814|865815|865816|865817|865818|865819|865820|865821|865822|865823|865824|868470|870793|882731|889173|889189|904690|958947|976735|976736|976737|976738|976739|976740|976741|976742|976743|976744|976745|976746|976747|976748|976749|976750|976751|976752|976753|976754|976755|976756|976757|976758|976759|976760|976761|976762|976763|976764|976765|976766|976767|976768|976769|976770|976771|976772|976773|976774|976775|976776|976777|976778|976779|976780|976781|976782|976783|976784|976785|976786|976787|976788|976789|976790|976791|976792|976793|976794|976795|976796|976797|976798|976799|976800|976801|976802|976803|976804|976805|976806|976807|976808|976809|976810|976811", "text": "Thrombocytopenia" }, { - "baseId": "15336|15337|15338|15342|15354|39965|976584", + "upstreamId": "15336|15337|15338|15342|15354|39965|976584", "text": "von Willebrand disease type 3" }, { - "baseId": "15339|15350|106207|106217|254671", + "upstreamId": "15339|15350|106207|106217|254671", "text": "von Willebrand disease type 2M" }, { - "baseId": "15347", + "upstreamId": "15347", "text": "von Willebrand factor Vicenza" }, { - "baseId": "15347|615738|801067|801135|801136", + "upstreamId": "15347|615738|801067|801135|801136", "text": "Reduced quantity of Von Willebrand factor" }, { - "baseId": "15347|615498|615738|801067|801135|801136", + "upstreamId": "15347|615498|615738|801067|801135|801136", "text": "Reduced von Willebrand factor activity" }, { - "baseId": "15349", + "upstreamId": "15349", "text": "von Willebrand disease, type 1, susceptibility to" }, { - "baseId": "15358|15359|15360|15361|15362|15363|39963|132027|132028|132029|132030|237630|252574|301710|301712|301719|304912|304920|304926|304928|304929|304930|309535|309553|309557|309558|309650|309651|309660|309662|309663|359793|792670|897341|897342|897343|897344|897345|897346|897347|897348|897349|897350|897351|897352|897353|897354|897355|919071", + "upstreamId": "15358|15359|15360|15361|15362|15363|39963|132027|132028|132029|132030|237630|252574|301710|301712|301719|304912|304920|304926|304928|304929|304930|309535|309553|309557|309558|309650|309651|309660|309662|309663|359793|792670|897341|897342|897343|897344|897345|897346|897347|897348|897349|897350|897351|897352|897353|897354|897355|919071", "text": "Exudative vitreoretinopathy 5" }, { - "baseId": "15364|15365|15365|15366|39951|57050|57051|57052|57054|57054|57055|57056|57057|57059|57060|57061|57063|57063|57070|57071|57072|57074|57075|57076|57078|57079|142214|172462|172596|172597|172598|172599|172602|178469|191293|198075|198078|198082|198089|198090|198091|198092|198094|198098|198099|198100|198107|228513|228514|228515|228518|228518|228521|228522|238345|238346|257981|257984|283296|391545|391546|404750|425384|442887|448242|448247|448367|448372|448375|448379|448433|448437|509228|509231|509232|509234|509236|509241|516079|516080|516081|516083|516085|516088|516090|516113|516118|516122|557372|557374|557425|558595|590237|614739|628260|628261|628262|628263|628264|628265|628266|628267|628268|628269|685109|685829|746651|762083|818999|824421|824422|824423|824424|824425|850812|922162|930662|930663|942103|952527|970701", + "upstreamId": "15364|15365|15365|15366|39951|57050|57051|57052|57054|57054|57055|57056|57057|57059|57060|57061|57063|57063|57070|57071|57072|57074|57075|57076|57078|57079|142214|172462|172596|172597|172598|172599|172602|178469|191293|198075|198078|198082|198089|198090|198091|198092|198094|198098|198099|198100|198107|228513|228514|228515|228518|228518|228521|228522|238345|238346|257981|257984|283296|391545|391546|404750|425384|442887|448242|448247|448367|448372|448375|448379|448433|448437|509228|509231|509232|509234|509236|509241|516079|516080|516081|516083|516085|516088|516090|516113|516118|516122|557372|557374|557425|558595|590237|614739|628260|628261|628262|628263|628264|628265|628266|628267|628268|628269|685109|685829|746651|762083|818999|824421|824422|824423|824424|824425|850812|922162|930662|930663|942103|952527|970701", "text": "Dilated cardiomyopathy 1CC" }, { - "baseId": "15365|39950|39951|39951|57050|57051|57051|57052|57054|57055|57056|57057|57059|57060|57061|57063|57070|57071|57072|57074|57075|57076|57078|57079|142214|172462|172596|172597|172598|172599|172602|178469|191293|198075|198078|198082|198089|198090|198091|198092|198094|198098|198099|198100|198107|228513|228514|228515|228518|228521|228522|238345|238346|257981|257984|283296|391545|391546|404750|425384|442887|448242|448247|448367|448372|448375|448379|448433|448437|509228|509231|509232|509234|509236|509241|516079|516080|516081|516083|516085|516088|516090|516113|516118|516122|557372|557374|557425|558595|614739|628260|628261|628262|628263|628264|628265|628266|628267|628268|628269|685109|685829|746651|762083|818999|824421|824422|824423|824424|824425|850812|922162|930662|930663|942103|952527", + "upstreamId": 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"text": "Hereditary sensory and autonomic neuropathy type IIA" }, { - "baseId": 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"text": "Charcot-Marie-Tooth disease" }, { - "baseId": 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"text": "Neurofibromatosis, type 1" }, { - "baseId": "15375|48599|53763|184559|235823|361009|361010|467795|514075|514077|514081|623635|623636|623637|623638|624836|625836|801168", + "upstreamId": "15375|48599|53763|184559|235823|361009|361010|467795|514075|514077|514081|623635|623636|623637|623638|624836|625836|801168", "text": "Neurofibromas" }, { - "baseId": "15375|186247|361009|433256|581787", + "upstreamId": "15375|186247|361009|433256|581787", "text": "Optic nerve glioma" }, { - "baseId": "15375|48599|178504|222607|263242|361009|361009|361010|361011|361014|426213|514073|514074|514075|514077|514079|514081|514179|514180|551417|551418", + "upstreamId": "15375|48599|178504|222607|263242|361009|361009|361010|361011|361014|426213|514073|514074|514075|514077|514079|514081|514179|514180|551417|551418", "text": "Neurofibromatosis type 6" }, { - "baseId": "15375|48599|186247|361010|361013|514077|514081", + "upstreamId": "15375|48599|186247|361010|361013|514077|514081", "text": "Axillary freckling" }, { - "baseId": 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+ "upstreamId": 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"text": "Caf\u00e9-au-lait macules with pulmonary stenosis" }, { - "baseId": 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+ "upstreamId": 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"text": "Neurofibromatosis, familial spinal" }, { - "baseId": "15375|15382|15389|15390|15391|20091|20092|20093|27619|27621|27622|27623|28363|28364|28365|28366|28367|28368|28368|28369|28370|28371|28372|28373|28375|28376|28377|28378|28379|28940|38779|48247|48599|48957|48959|48972|48982|48983|48983|48998|49010|49026|49028|49028|49029|49029|49032|49040|50109|50118|53766|79232|79254|125841|151055|151461|151558|151696|152518|172332|175345|175398|175540|175854|184644|184663|184694|184701|184734|184744|184776|205418|213278|213296|222633|230257|235548|235689|235758|242618|264844|401720|420826|466548|467417|467718|467751|478388|482128|530861|538420|539096|570918|570990|574403|645561|801168|801197", + "upstreamId": "15375|15382|15389|15390|15391|20091|20092|20093|27619|27621|27622|27623|28363|28364|28365|28366|28367|28368|28368|28369|28370|28371|28372|28373|28375|28376|28377|28378|28379|28940|38779|48247|48599|48957|48959|48972|48982|48983|48983|48998|49010|49026|49028|49028|49029|49029|49032|49040|50109|50118|53766|79232|79254|125841|151055|151461|151558|151696|152518|172332|175345|175398|175540|175854|184644|184663|184694|184701|184734|184744|184776|205418|213278|213296|222633|230257|235548|235689|235758|242618|264844|401720|420826|466548|467417|467718|467751|478388|482128|530861|538420|539096|570918|570990|574403|645561|801168|801197", "text": "Juvenile myelomonocytic leukemia" }, { - "baseId": "15375|15382|15402|15403|15404|39949|49242|50109|50111|50112|50114|50117|50118|50119|79232|79254|138619|138620|150747|150951|151055|151165|151425|151461|151558|151609|151696|151696|151711|152518|152518|184501|184505|184506|184518|184524|184526|184536|184545|184563|184571|184580|184584|184600|184603|184621|184627|184643|184644|184644|184647|184663|184669|184673|184674|184676|184681|184685|184694|184699|184701|184710|184711|184719|184724|184734|184739|184744|184745|184748|184771|184776|184794|184796|205416|205418|213246|213278|213289|213296|222633|222641|230764|235548|235578|235633|235689|235726|235758|242034|242618|242644|256113|264670|264844|327954|327955|327957|327958|327961|327978|327979|327980|327981|327982|327983|327986|327988|337800|337802|337803|337806|337808|337811|337813|337815|337817|337819|337821|337823|344012|344013|344021|344023|344027|344029|344034|344038|344043|344046|344049|344051|344059|344060|344065|344066|344071|344072|344073|345438|345439|345440|345441|345442|345444|345445|345447|345452|345459|345464|345469|345471|375841|401720|402482|402525|402547|420826|466548|467417|467718|467751|478119|478185|478388|482128|530861|538217|570918|570990|574403|800027|877176|877177|877178|877179|877180|877181|877182|877183|877184|877185|877186|877187|877188|877189|877190|877191|877192|877193|877194|877195|877196|877197|877198|877199|877200|877201|877202|877203|877204|877205|877206|877207|877208|880495|880496|880497|880498|880499", + "upstreamId": "15375|15382|15402|15403|15404|39949|49242|50109|50111|50112|50114|50117|50118|50119|79232|79254|138619|138620|150747|150951|151055|151165|151425|151461|151558|151609|151696|151696|151711|152518|152518|184501|184505|184506|184518|184524|184526|184536|184545|184563|184571|184580|184584|184600|184603|184621|184627|184643|184644|184644|184647|184663|184669|184673|184674|184676|184681|184685|184694|184699|184701|184710|184711|184719|184724|184734|184739|184744|184745|184748|184771|184776|184794|184796|205416|205418|213246|213278|213289|213296|222633|222641|230764|235548|235578|235633|235689|235726|235758|242034|242618|242644|256113|264670|264844|327954|327955|327957|327958|327961|327978|327979|327980|327981|327982|327983|327986|327988|337800|337802|337803|337806|337808|337811|337813|337815|337817|337819|337821|337823|344012|344013|344021|344023|344027|344029|344034|344038|344043|344046|344049|344051|344059|344060|344065|344066|344071|344072|344073|345438|345439|345440|345441|345442|345444|345445|345447|345452|345459|345464|345469|345471|375841|401720|402482|402525|402547|420826|466548|467417|467718|467751|478119|478185|478388|482128|530861|538217|570918|570990|574403|800027|877176|877177|877178|877179|877180|877181|877182|877183|877184|877185|877186|877187|877188|877189|877190|877191|877192|877193|877194|877195|877196|877197|877198|877199|877200|877201|877202|877203|877204|877205|877206|877207|877208|880495|880496|880497|880498|880499", "text": "Neurofibromatosis-Noonan syndrome" }, { - "baseId": "15382|15384|15393|79199|79204|79206|151227|184512|184776|222607|222630|230771|235788|401712|402450|422155|433236|514076|538116|574378|806386|806387|806388|806389|806390|806391|806392|806393|806394|806395|806396|806397|806398|806399|806400|806401|806402|806403|806404|806405", + "upstreamId": "15382|15384|15393|79199|79204|79206|151227|184512|184776|222607|222630|230771|235788|401712|402450|422155|433236|514076|538116|574378|806386|806387|806388|806389|806390|806391|806392|806393|806394|806395|806396|806397|806398|806399|806400|806401|806402|806403|806404|806405", "text": "Tibial pseudoarthrosis" }, { - "baseId": "15393|22858|24276|27395|27405|27408|27409|27641|27642|28849|46200|46415|46641|46678|66068|66161|66352|70402|96029|99230|133266|133278|150772|151677|152315|176641|184694|186247|222630|230767|235062|241976|242675|245069|362765|363028|363029|363030|363479|406737|421138|485675|538217|568925|966354|966884|966885|966886|966887", + "upstreamId": "15393|22858|24276|27395|27405|27408|27409|27641|27642|28849|46200|46415|46641|46678|66068|66161|66352|70402|96029|99230|133266|133278|150772|151677|152315|176641|184694|186247|222630|230767|235062|241976|242675|245069|362765|363028|363029|363030|363479|406737|421138|485675|538217|568925|966354|966884|966885|966886|966887", "text": "Rhabdomyosarcoma (disease)" }, { - "baseId": "15414|15420|15425|15426|15427|15428", + "upstreamId": "15414|15420|15425|15426|15427|15428", "text": "Galactosialidosis, late infantile" }, { - "baseId": "15415", + "upstreamId": "15415", "text": "Galactosialidosis, adult" }, { - "baseId": "15415|15416|15417|15418|15419|15420|15422|106589|192221|227690|260848|335561|335568|335569|335570|335572|335575|335576|335580|345317|345324|345326|345331|345340|345347|345353|350015|350018|350021|350022|351036|351040|351042|351043|351045|351048|351049|351052|351053|351056|351057|351060|469372|470407|534117|571253|573555|613167|620659|621643|648720|705507|786383|789390|848430|848431|848432|851851|886160|886161|886162|886163|886164|886165|886166|887461|887462|887463|905963|919915|929201|929202|938987|951109|958851|960318|960941|963081|963082|969192", + "upstreamId": "15415|15416|15417|15418|15419|15420|15422|106589|192221|227690|260848|335561|335568|335569|335570|335572|335575|335576|335580|345317|345324|345326|345331|345340|345347|345353|350015|350018|350021|350022|351036|351040|351042|351043|351045|351048|351049|351052|351053|351056|351057|351060|469372|470407|534117|571253|573555|613167|620659|621643|648720|705507|786383|789390|848430|848431|848432|851851|886160|886161|886162|886163|886164|886165|886166|887461|887462|887463|905963|919915|929201|929202|938987|951109|958851|960318|960941|963081|963082|969192", "text": "Combined deficiency of sialidase AND beta galactosidase" }, { - "baseId": "15422|15423|15424", + "upstreamId": "15422|15423|15424", "text": "Galactosialidosis, early infantile" }, { - "baseId": "15429|15430|15431|15432|15433|18928|18972|176964|177227|177752|181419|251827|251828|296457|296458|296464|296465|296473|296474|296476|296480|296485|296489|296493|296496|296497|298321|298322|298330|298353|298356|298357|298358|298365|298380|298381|298382|298396|298397|298398|298400|302465|302469|302472|302473|302474|302476|302488|302489|302493|302499|302723|302726|302729|302730|302733|302737|302740|302741|302742|302755|302758|302759|302762|302763|302768|302769|302770|362043|362044|520161|547815|612272|633655|734962|830547|893610|893611|893612|893613|893614|893615|893616|893617|893618|893619|893620|893621|893622|893623|893624|893625|893626|893627|893628|893629|893630|893631|893632|893633|893634|893635|893636|893637|893638|893639|893640|964248", + "upstreamId": 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+ "upstreamId": 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"text": "Deafness, autosomal recessive 77" }, { - "baseId": "15435", + "upstreamId": "15435", "text": "MORM syndrome" }, { - "baseId": 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"15439|20341|176924|263175|263178|263211|263399|263412|538431", + "upstreamId": "15439|20341|176924|263175|263178|263211|263399|263412|538431", "text": "16 conditions" }, { - "baseId": "15440|810787|970938", + "upstreamId": "15440|810787|970938", "text": "Paragangliomas 2" }, { - "baseId": 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13|936684|941001|941064|943155|943156|943157|943158|943159|943160|943161|943162|943163|943164|943165|943166|943167|943168|947510|947511|947513|947514|947515|947516|948627|948628|948629|948630|948631|953252|953253|953254|953255|953256|956537|956538|980139", "text": "Hereditary Paraganglioma-Pheochromocytoma Syndromes" }, { - "baseId": "15441|15442|15443|15444|15445|255857|326219|326227|326228|326229|326233|326235|335944|335952|335955|335966|335970|335974|342280|342284|342286|342288|342289|342292|342293|342294|343867|343870|343871|343872|343883|343888|343890|343891|426179|466669|547782|547791|547796|547820|547829|547830|547832|547833|547838|547839|548070|548077|548085|548086|548525|548527|548528|548535|548537|581773|644950|644951|715046|715047|726771|726772|726773|731092|755369|771050|771051|785372|785374|787936|820870|844242|875897|875898|875899|875900|875901|875902|875903|875904|875905|875906|875907|875908|875909|875910|875911|875912|875913|875914|876718|937579|957855|957856|960853|966149", + "upstreamId": "15441|15442|15443|15444|15445|255857|326219|326227|326228|326229|326233|326235|335944|335952|335955|335966|335970|335974|342280|342284|342286|342288|342289|342292|342293|342294|343867|343870|343871|343872|343883|343888|343890|343891|426179|466669|547782|547791|547796|547820|547829|547830|547832|547833|547838|547839|548070|548077|548085|548086|548525|548527|548528|548535|548537|581773|644950|644951|715046|715047|726771|726772|726773|731092|755369|771050|771051|785372|785374|787936|820870|844242|875897|875898|875899|875900|875901|875902|875903|875904|875905|875906|875907|875908|875909|875910|875911|875912|875913|875914|876718|937579|957855|957856|960853|966149", "text": "Tyrosinemia type II" }, { - "baseId": "15446|15447|207039|626134|961762|961763|961764", + "upstreamId": "15446|15447|207039|626134|961762|961763|961764", "text": "Urocanate hydratase deficiency" }, { - "baseId": "15448|34155|40570|40571|800831|800841|800842|970791|970792", + "upstreamId": "15448|34155|40570|40571|800831|800841|800842|970791|970792", "text": "Huntington disease" }, { - "baseId": "15449|141372|141373|141374|177401|193726|193727|194522|211571|211572|254360|315365|322214|322215|328321|868889|868890|868891|868892", + "upstreamId": "15449|141372|141373|141374|177401|193726|193727|194522|211571|211572|254360|315365|322214|322215|328321|868889|868890|868891|868892", "text": "Optic atrophy 7" }, { - "baseId": 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+ "upstreamId": 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"text": "Mitochondrial complex IV deficiency" }, { - "baseId": "15450|187971", + "upstreamId": "15450|187971", "text": "Mitochondrial complex 4 deficiency, nuclear type 8" }, { - "baseId": "15451|15452|15453|15454|15455|15456|299596|299597|299610|299611|299616|299617|299622|302139|302140|302141|302143|302151|302160|302163|302164|302165|302176|306547|306548|306551|306552|306554|306565|306815|306816|306835|306841|306847|306859|306861|428599|710325|710326|710327|710328|721875|735529|802160|861086|861625|895665|895666|895667|895668|895669|895670|896214|919021|920226", + "upstreamId": "15451|15452|15453|15454|15455|15456|299596|299597|299610|299611|299616|299617|299622|302139|302140|302141|302143|302151|302160|302163|302164|302165|302176|306547|306548|306551|306552|306554|306565|306815|306816|306835|306841|306847|306859|306861|428599|710325|710326|710327|710328|721875|735529|802160|861086|861625|895665|895666|895667|895668|895669|895670|896214|919021|920226", "text": "Leukoencephalopathy, cystic, without megalencephaly" }, { - "baseId": "15457|15458|15459|15460|190243|303055|303056|303057|306309|306338|306340|311165|311167|311168|311296|311297|311300|311301|369750|434619|523317|578459|636166|636167|710992|833616|833617|833618|833619|833620|898108|898109|898110|898111|898112|898113|898114|898115|924856|933891|945637|955160", + "upstreamId": "15457|15458|15459|15460|190243|303055|303056|303057|306309|306338|306340|311165|311167|311168|311296|311297|311300|311301|369750|434619|523317|578459|636166|636167|710992|833616|833617|833618|833619|833620|898108|898109|898110|898111|898112|898113|898114|898115|924856|933891|945637|955160", "text": "Glycogen storage disease type X" }, { - "baseId": "15461|15462|15463|626073", + "upstreamId": "15461|15462|15463|626073", "text": "Mitochondrial complex 1 deficiency, nuclear type 18" }, { - "baseId": "15464|360473", + "upstreamId": "15464|360473", "text": "Autosomal dominant macrothrombocytopenia TUBB1-related" }, { - "baseId": "15464|19193|28568|28570|31079|51193|51196|51197|51198|572347|612063|612487|615337|615338|615548|615549|615550|615551|615555|615556|615558|615559|615561|615563|615564|615567|615574|615588|615589|615593|615594|615595|615596|615599|615601|615617|615619|615620|615621|615622|615623|615624|615625|615629|615630|615638|615643|615644|615648|615650|615651|615654|615656|615658|615661|615715|615717|615745|615854|615864|615867|801081|801139|801201|801212|801213|801214|801215|801516", + "upstreamId": "15464|19193|28568|28570|31079|51193|51196|51197|51198|572347|612063|612487|615337|615338|615548|615549|615550|615551|615555|615556|615558|615559|615561|615563|615564|615567|615574|615588|615589|615593|615594|615595|615596|615599|615601|615617|615619|615620|615621|615622|615623|615624|615625|615629|615630|615638|615643|615644|615648|615650|615651|615654|615656|615658|615661|615715|615717|615745|615854|615864|615867|801081|801139|801201|801212|801213|801214|801215|801516", "text": "Macrothrombocytopenia" }, { - "baseId": "15465|15466|15467|48319|48320|48321|94456|168559|168560|168561|168562|168566|168567|168569|168570|207401|237813|369100|415045|424603|428611|428613|486744|551295|679749|788799|855107|964273|964274|970830", + "upstreamId": "15465|15466|15467|48319|48320|48321|94456|168559|168560|168561|168562|168566|168567|168569|168570|207401|237813|369100|415045|424603|428611|428613|486744|551295|679749|788799|855107|964273|964274|970830", "text": "Polymicrogyria, asymmetric" }, { - "baseId": "15468|15469", + "upstreamId": "15468|15469", "text": "MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 2" }, { - "baseId": "15470|140691|140692|140693|140694|140695|140696|190089|211720|211721|211723|211724|211727|325944|325945|325947|335545|335551|335554|335555|335589|335599|335604|335606|342019|342021|342027|342028|343531|375490|875597|875598|875599|875600|875601|875602|875603|875604|875605|875606|876688|876689", + "upstreamId": "15470|140691|140692|140693|140694|140695|140696|190089|211720|211721|211723|211724|211727|325944|325945|325947|335545|335551|335554|335555|335589|335599|335604|335606|342019|342021|342027|342028|343531|375490|875597|875598|875599|875600|875601|875602|875603|875604|875605|875606|876688|876689", "text": "Coenzyme Q10 deficiency, primary, 5" }, { - "baseId": "15471|15473|15474|15475|15476|84886|94529|94530|105940|105941|105942|105944|105946|105948|105957|105961|105964|105965|105969|105970|105971|105972|105973|105974|105977|105978|105980|105990|105993|106000|186635|186636|237147|267156|271717|281384|281390|281393|281396|281397|281399|282007|282008|282009|282021|282023|282025|282026|282038|282044|282054|283300|283305|283337|283338|283342|283345|283359|283443|283444|283446|283449|283459|283490|283491|283499|283500|283509|283520|283522|357148|357149|357150|357151|357152|357153|357154|357155|357156|357157|357158|357159|357160|357161|357162|357163|357164|357165|357166|357167|357168|357169|357170|357171|357172|357173|357174|357175|357176|357177|357178|357179|357180|357181|357182|357183|357184|357185|357186|442900|486871|494099|541312|541325|541328|541339|541341|541344|541346|541349|541350|541352|541354|541375|541377|541381|541382|541385|541391|541394|541398|541399|541401|541410|541411|541413|541415|576559|620020|620021|621090|621091|794751|801600|864881|864882|864883|864884|864885|864886|864887|864888|864889|864890|864891|864892|864893|864894|864895|864896|864897|864898|864899|864900|864901|864902|864903|864904|864905|864906|865224|865235|865236|865237|865238|868425|868426|868427|961751", + "upstreamId": "15471|15473|15474|15475|15476|84886|94529|94530|105940|105941|105942|105944|105946|105948|105957|105961|105964|105965|105969|105970|105971|105972|105973|105974|105977|105978|105980|105990|105993|106000|186635|186636|237147|267156|271717|281384|281390|281393|281396|281397|281399|282007|282008|282009|282021|282023|282025|282026|282038|282044|282054|283300|283305|283337|283338|283342|283345|283359|283443|283444|283446|283449|283459|283490|283491|283499|283500|283509|283520|283522|357148|357149|357150|357151|357152|357153|357154|357155|357156|357157|357158|357159|357160|357161|357162|357163|357164|357165|357166|357167|357168|357169|357170|357171|357172|357173|357174|357175|357176|357177|357178|357179|357180|357181|357182|357183|357184|357185|357186|442900|486871|494099|541312|541325|541328|541339|541341|541344|541346|541349|541350|541352|541354|541375|541377|541381|541382|541385|541391|541394|541398|541399|541401|541410|541411|541413|541415|576559|620020|620021|621090|621091|794751|801600|864881|864882|864883|864884|864885|864886|864887|864888|864889|864890|864891|864892|864893|864894|864895|864896|864897|864898|864899|864900|864901|864902|864903|864904|864905|864906|865224|865235|865236|865237|865238|868425|868426|868427|961751", "text": "Dihydropyrimidine dehydrogenase deficiency" }, { - "baseId": "15471|15472|94529", + "upstreamId": "15471|15472|94529", "text": "Fluorouracil response" }, { - "baseId": "15471|28870|28946|28951|28959|28960|28961|28962|28963|28964|28965|28966|28971|28975|28976|28977|28978|28979|28986|28991|28993|28994|36221|36228|36269|36275|36287|36305|45384|45386|50165|50278|50282|50284|50285|101890|101891|101892|136461|136472|138345|138726|138849|138926|138928|138929|139807|139815|139817|139819|139827|139828|139830|139833|166578|166579|166580|171125|182944|182948|182956|182958|186117|188092|188093|188094|188095|188096|188097|188098|188099|188100|188101|188102|188103|188104|209431|212767|212783|212784|212794|215301|221946|240788|240790|240797|240802|263835|263836|263839|263840|263841|263842|263843|263844|263845|263846|263847|263848|271973|310269|310270|310276|310293|310303|310309|310315|310330|310333|310334|315391|315392|315393|315394|315397|315411|315412|315418|315419|321369|321370|321384|321385|321388|321398|321411|321412|321415|321417|321419|321420|321423|322066|322103|322120|322142|322160|322161|322168|358824|358829|362046|362047|362048|362049|397269|397444|397680|397699|459817|460008|460025|460251|460316|460325|460677|460686|475107|525176|539281|569630|569655|581736|654156|679770|836830|858560|865863|865864|865865|865866|865867|865868|865869|865870|865871|865872|865873|865874|865875|865876|865877|865878|865879|865880|865881|865882|868471|868472", + "upstreamId": "15471|28870|28946|28951|28959|28960|28961|28962|28963|28964|28965|28966|28971|28975|28976|28977|28978|28979|28986|28991|28993|28994|36221|36228|36269|36275|36287|36305|45384|45386|50165|50278|50282|50284|50285|101890|101891|101892|136461|136472|138345|138726|138849|138926|138928|138929|139807|139815|139817|139819|139827|139828|139830|139833|166578|166579|166580|171125|182944|182948|182956|182958|186117|188092|188093|188094|188095|188096|188097|188098|188099|188100|188101|188102|188103|188104|209431|212767|212783|212784|212794|215301|221946|240788|240790|240797|240802|263835|263836|263839|263840|263841|263842|263843|263844|263845|263846|263847|263848|271973|310269|310270|310276|310293|310303|310309|310315|310330|310333|310334|315391|315392|315393|315394|315397|315411|315412|315418|315419|321369|321370|321384|321385|321388|321398|321411|321412|321415|321417|321419|321420|321423|322066|322103|322120|322142|322160|322161|322168|358824|358829|362046|362047|362048|362049|397269|397444|397680|397699|459817|460008|460025|460251|460316|460325|460677|460686|475107|525176|539281|569630|569655|581736|654156|679770|836830|858560|865863|865864|865865|865866|865867|865868|865869|865870|865871|865872|865873|865874|865875|865876|865877|865878|865879|865880|865881|865882|868471|868472", "text": "Hirschsprung disease 1" }, { - "baseId": "15471|94529", + "upstreamId": "15471|94529", "text": "capecitabine response - Toxicity/ADR, Metabolism/PK" }, { - "baseId": "15471|94529", + "upstreamId": "15471|94529", "text": "fluorouracil response - Toxicity/ADR, Metabolism/PK" }, { - "baseId": "15471|94529", + "upstreamId": "15471|94529", "text": "Pyrimidine analogues response - Toxicity/ADR, Metabolism/PK" }, { - "baseId": "15471|94529", + "upstreamId": "15471|94529", "text": "tegafur response - Toxicity/ADR, Metabolism/PK" }, { - "baseId": "15471|28310|590069", + "upstreamId": "15471|28310|590069", "text": "22 conditions" }, { - "baseId": "15477", + "upstreamId": "15477", "text": "LUTHERAN BLOOD GROUP POLYMORPHISM Lu(a)/Lu(b)" }, { - "baseId": "15478", + "upstreamId": "15478", "text": "AUBERGER BLOOD GROUP POLYMORPHISM Au(a)/Au(b)" }, { - "baseId": "15479|15480|15481|15482", + "upstreamId": "15479|15480|15481|15482", "text": "BLOOD GROUP--LUTHERAN NULL" }, { - "baseId": "15483|227369|255242|255243|255244|255245|255246|260069|538443|906177|961030|963172", + "upstreamId": "15483|227369|255242|255243|255244|255245|255246|260069|538443|906177|961030|963172", "text": "Thyroglobulin synthesis defect" }, { - "baseId": "15484|15485|15486|15487|15488|15489|256709|256710|256711|256712|256713|332019|332020|332025|332026|332027|332029|332030|332031|332033|332044|332048|332052|332053|332056|332059|332061|332070|332078|332083|332090|332095|332096|332104|332106|332109|332113|332117|332119|332133|332134|332136|332142|342221|342223|342225|342227|342230|342232|342234|342235|342236|342240|342242|342243|342246|342249|342250|342253|342255|342257|342259|342260|342261|342265|342267|342268|342278|342281|342283|342296|342298|342299|342302|342309|342310|342313|347624|347627|347636|347639|347640|347644|347649|347651|347655|347656|347659|347660|347667|347668|347673|347679|347684|347687|347688|347693|347694|347695|347696|347702|347703|347711|347712|347713|347714|347717|347727|347728|347729|347732|347733|348979|348981|348983|348991|348995|349003|349004|349005|349011|349014|349015|349019|349027|349029|349031|349039|349043|349052|349060|349066|349068|349070|349078|349080|349084|349087|349088|349094|349096|507407|513543|578427|614452|620902|704641|727761|756497|772236|791879|800092|879600|879601|879602|879603|879604|879605|879606|879607|879608|879609|879610|879611|879612|879613|879614|879615|879616|879617|879618|879619|879620|879621|879622|879623|879624|879625|879626|879627|879628|879629|879630|879631|879632|879633|879634|879635|879636|879637|879638|879639|879640|879641|879642|879643|879644|879645|879646|879647|879648|879649|879650|879651|879652|879653|879654|879655|879656|879657|879658|879659|879660|879661|879662|879663|879664|879665|879666|879667|879668|879669|879670|879671|879672|880671", + "upstreamId": "15484|15485|15486|15487|15488|15489|256709|256710|256711|256712|256713|332019|332020|332025|332026|332027|332029|332030|332031|332033|332044|332048|332052|332053|332056|332059|332061|332070|332078|332083|332090|332095|332096|332104|332106|332109|332113|332117|332119|332133|332134|332136|332142|342221|342223|342225|342227|342230|342232|342234|342235|342236|342240|342242|342243|342246|342249|342250|342253|342255|342257|342259|342260|342261|342265|342267|342268|342278|342281|342283|342296|342298|342299|342302|342309|342310|342313|347624|347627|347636|347639|347640|347644|347649|347651|347655|347656|347659|347660|347667|347668|347673|347679|347684|347687|347688|347693|347694|347695|347696|347702|347703|347711|347712|347713|347714|347717|347727|347728|347729|347732|347733|348979|348981|348983|348991|348995|349003|349004|349005|349011|349014|349015|349019|349027|349029|349031|349039|349043|349052|349060|349066|349068|349070|349078|349080|349084|349087|349088|349094|349096|507407|513543|578427|614452|620902|704641|727761|756497|772236|791879|800092|879600|879601|879602|879603|879604|879605|879606|879607|879608|879609|879610|879611|879612|879613|879614|879615|879616|879617|879618|879619|879620|879621|879622|879623|879624|879625|879626|879627|879628|879629|879630|879631|879632|879633|879634|879635|879636|879637|879638|879639|879640|879641|879642|879643|879644|879645|879646|879647|879648|879649|879650|879651|879652|879653|879654|879655|879656|879657|879658|879659|879660|879661|879662|879663|879664|879665|879666|879667|879668|879669|879670|879671|879672|880671", "text": "Hennekam lymphangiectasia-lymphedema syndrome 1" }, { - "baseId": "15490|15491|15493|15494|15495|15497|15498|15499|15500|15501", + "upstreamId": "15490|15491|15493|15494|15495|15497|15498|15499|15500|15501", "text": "Coproporphyria" }, { - "baseId": "15492|15496|131973", + "upstreamId": "15492|15496|131973", "text": "Harderoporphyria" }, { - "baseId": "15498|291807|291809|291810|291814|291816|291818|291820|291821|291823|291828|291830|291834|291835|293138|293139|293140|293142|293174|293175|293176|293190|293193|293194|293195|293197|293200|293201|296460|296461|296463|296470|296471|296472|296475|296477|296478|296481|296483|296484|296486|296488|296490|296491|296499|296500|296501|296503|296504|296513|296517|296518|296519|296523|790424|859316|889793|889794|889795|889796|889797|889798|889799|889800|889801|889802|889803|889804|889805|889806|889807|889808|889809|889810|889811|889812|889813|889814|891715|891716|891717|891718", + "upstreamId": "15498|291807|291809|291810|291814|291816|291818|291820|291821|291823|291828|291830|291834|291835|293138|293139|293140|293142|293174|293175|293176|293190|293193|293194|293195|293197|293200|293201|296460|296461|296463|296470|296471|296472|296475|296477|296478|296481|296483|296484|296486|296488|296490|296491|296499|296500|296501|296503|296504|296513|296517|296518|296519|296523|790424|859316|889793|889794|889795|889796|889797|889798|889799|889800|889801|889802|889803|889804|889805|889806|889807|889808|889809|889810|889811|889812|889813|889814|891715|891716|891717|891718", "text": "Hereditary coproporphyria" }, { - "baseId": "15502", + "upstreamId": "15502", "text": "Coproporphyria, digenic" }, { - "baseId": "15503|15504|15505|15507|15508|15509|15510|15511|15512|15513|15514|17204|39935|39936|39937|186775|186776|186777|186778|186779|186780|193362|215107|215108|253252|253253|269611|271344|306261|306263|306270|306277|306279|306282|306286|306292|310376|310379|310381|310397|310401|310402|310403|310410|315742|315744|315747|315748|315749|315751|315813|315814|315815|315816|315824|315833|315835|315836|357757|357758|357759|357760|357761|357762|357763|372045|372053|404779|425807|487350|492840|493102|493140|502082|502550|544597|544913|545016|545019|545026|545030|545031|545037|545101|545119|545135|545136|545139|545141|545143|545147|584887|586526|621289|736795|736796|736797|766968|766969|766970|766971|766972|766973|783198|783203|820034|820035|900668|900669|900670|900671|900672|900673|900674|900675|900676|900677|900678|900679|900680|900681|900682|900683|900684|900685|900686|900687|900688|900689|903279|917027|925308|925309|934489|940120|940917|955618|972024|972025|972026|972027|978505|978506|978507|978508|980931", + "upstreamId": "15503|15504|15505|15507|15508|15509|15510|15511|15512|15513|15514|17204|39935|39936|39937|186775|186776|186777|186778|186779|186780|193362|215107|215108|253252|253253|269611|271344|306261|306263|306270|306277|306279|306282|306286|306292|310376|310379|310381|310397|310401|310402|310403|310410|315742|315744|315747|315748|315749|315751|315813|315814|315815|315816|315824|315833|315835|315836|357757|357758|357759|357760|357761|357762|357763|372045|372053|404779|425807|487350|492840|493102|493140|502082|502550|544597|544913|545016|545019|545026|545030|545031|545037|545101|545119|545135|545136|545139|545141|545143|545147|584887|586526|621289|736795|736796|736797|766968|766969|766970|766971|766972|766973|783198|783203|820034|820035|900668|900669|900670|900671|900672|900673|900674|900675|900676|900677|900678|900679|900680|900681|900682|900683|900684|900685|900686|900687|900688|900689|903279|917027|925308|925309|934489|940120|940917|955618|972024|972025|972026|972027|978505|978506|978507|978508|980931", "text": "Hereditary fructosuria" }, { - "baseId": "15515|15516|15518|15519|15520|15522|15523|15524|15525|15667|15670|108502|312401|312403|325159|357930|359860|359983|425904|460885|461217|461692|461694|461696|513619|525902|545404|545410|545411|545413|545415|545417|545418|545420|545750|545752|545763|545767|545769|545772|545777|545818|545821|545827|545828|545830|545831|545837|545840|546044|546058|546064|546066|546069|546072|546073|546079|546083|639714|639715|639716|652488|737727|768205|775753|775775|783871|801690|820336|820337|837961|837962|867050|867051|867052|867053|867054|867055|867056|867057|935382|970226|970227", + "upstreamId": "15515|15516|15518|15519|15520|15522|15523|15524|15525|15667|15670|108502|312401|312403|325159|357930|359860|359983|425904|460885|461217|461692|461694|461696|513619|525902|545404|545410|545411|545413|545415|545417|545418|545420|545750|545752|545763|545767|545769|545772|545777|545818|545821|545827|545828|545830|545831|545837|545840|546044|546058|546064|546066|546069|546072|546073|546079|546083|639714|639715|639716|652488|737727|768205|775753|775775|783871|801690|820336|820337|837961|837962|867050|867051|867052|867053|867054|867055|867056|867057|935382|970226|970227", "text": "BH4-deficient hyperphenylalaninemia A" }, { - "baseId": "15516|15517|15521|15522", + "upstreamId": "15516|15517|15521|15522", "text": "Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency" }, { - "baseId": "15518|15520|312403|737727|775775|837961|867051|978861|978862|978863", + "upstreamId": "15518|15520|312403|737727|775775|837961|867051|978861|978862|978863", "text": "6-Pyruvoyl-tetrahydrobiopterin synthase deficiency" }, { - "baseId": "15526|15527|150469|708756|708757|980450|981427|981428", + "upstreamId": "15526|15527|150469|708756|708757|980450|981427|981428", "text": "Riddle syndrome" }, { - "baseId": "15528|15529|15530|15531|15532|15533|15534|251370|270628|292888|292890|292895|292899|292904|292905|292914|294253|294254|294256|294257|294261|294264|294269|294271|297721|297724|297793|297796|297802|297806|297811|453349|453831|496317|508792|508793|520077|559635|559790|561976|612268|614643|632091|651144|790458|790459|790460|828959|851496|890472|890473|890474|890475|890476|890477|890478|890479|890480|890481|890482|890483|943902|943903|959718", + "upstreamId": "15528|15529|15530|15531|15532|15533|15534|251370|270628|292888|292890|292895|292899|292904|292905|292914|294253|294254|294256|294257|294261|294264|294269|294271|297721|297724|297793|297796|297802|297806|297811|453349|453831|496317|508792|508793|520077|559635|559790|561976|612268|614643|632091|651144|790458|790459|790460|828959|851496|890472|890473|890474|890475|890476|890477|890478|890479|890480|890481|890482|890483|943902|943903|959718", "text": "Dihydropteridine reductase deficiency" }, { - "baseId": "15535|15536|15537|15538|15539|15540|135604|224972|224973|380216|578353|578354", + "upstreamId": "15535|15536|15537|15538|15539|15540|135604|224972|224973|380216|578353|578354", "text": "Mitchell-Riley syndrome" }, { - "baseId": "15536|22745|23707|34055|136364|167531|168864|168868|168869|168874|168875|195995|211069|281461|299130|372861|421907|444937|758701|801165|905057|905058|905059|905060|906381|906382|906383|906384|906385|906386|906387|906388|906389|906390|906391", + "upstreamId": "15536|22745|23707|34055|136364|167531|168864|168868|168869|168874|168875|195995|211069|281461|299130|372861|421907|444937|758701|801165|905057|905058|905059|905060|906381|906382|906383|906384|906385|906386|906387|906388|906389|906390|906391", "text": "Diabetes mellitus" }, { - "baseId": "15542|15543|15544|77877|77878|94432|99370|174339|174340|174341|174342|174477|174479|174480|190293|194332|194333|212517|229378|229380|229381|229382|229383|252064|298814|298815|301269|301270|301274|301275|301276|305665|305670|305772|305773|305775|305784|305786|305797|434602|455807|521959|634516|683757|895224|895225|895226|895227|895228|895229|895230|895231|895232|895233|895234|895235|895236|895237|895238|895239|895240", + "upstreamId": "15542|15543|15544|77877|77878|94432|99370|174339|174340|174341|174342|174477|174479|174480|190293|194332|194333|212517|229378|229380|229381|229382|229383|252064|298814|298815|301269|301270|301274|301275|301276|305665|305670|305772|305773|305775|305784|305786|305797|434602|455807|521959|634516|683757|895224|895225|895226|895227|895228|895229|895230|895231|895232|895233|895234|895235|895236|895237|895238|895239|895240", "text": "Ciliary dyskinesia, primary, 11" }, { - "baseId": "15545|15546|15548|15549|15550|15552|237250|253110|253111|253112|253113|253114|253115|253117|253118|253119|253120|253121|253122|253124|253125|253126|253127|253128|253129|253130|253132|253133|253134|253135|253136|253137|253138|253139|253140|253141|253142|253143|305249|305250|305258|305260|305267|305272|305279|305291|305295|305302|305304|305308|305309|305310|305312|305318|305323|305327|305330|309065|309068|309070|309073|309075|309076|309078|309084|309087|309091|309110|309117|309121|309136|309152|309153|309154|309159|309161|309162|309163|309167|314271|314274|314286|314288|314292|314293|314299|314300|314328|314329|314330|314332|314339|314341|314346|314351|314359|314368|314371|314372|314374|314375|314376|314383|314384|314385|314386|314387|314388|314390|314391|314392|314398|314399|314400|314402|314407|314409|314410|314411|314412|314413|314415|314417|314423|314424|314425|314426|360899|535247|535248|535249|535250|535251|609693|609694|609696|609698|711527|711530|723086|723087|723093|736649|736650|736654|751139|751140|751148|751154|751155|766806|775249|777707|777758|790800|799539|799540|799541|799542|799543|799544|799545|799546|799547|799548|799549|818256|899535|899536|899537|899538|899539|899540|899541|899542|899543|899544|899545|899546|899547|899548|899549|899550|899551|899552|899553|899554|899555|899556|899557|899558|899559|899560|899561|899562|899563|899564|899565|899566|899567|899568|899569|899570|899571|899572|899573|899574|899575|899576|899577|899578|899579|899580|899581|899582|899583|899584|899585|899586|899587|899588|899589|899590|899591|899592|899593|899594|899595|899596|899597|899598|899599|899600|899601|899602|899603|899604|899605|899606|900493|900494|900495|900496|900497|900498|900499|919153|961857|967231|981626|981627|981628|981629|981630|981631|981632|981633|981634|981635|981636|981637|981638|981639|981640|981641|981642|981643|981644|981645|981646|981647|981648", + "upstreamId": "15545|15546|15548|15549|15550|15552|237250|253110|253111|253112|253113|253114|253115|253117|253118|253119|253120|253121|253122|253124|253125|253126|253127|253128|253129|253130|253132|253133|253134|253135|253136|253137|253138|253139|253140|253141|253142|253143|305249|305250|305258|305260|305267|305272|305279|305291|305295|305302|305304|305308|305309|305310|305312|305318|305323|305327|305330|309065|309068|309070|309073|309075|309076|309078|309084|309087|309091|309110|309117|309121|309136|309152|309153|309154|309159|309161|309162|309163|309167|314271|314274|314286|314288|314292|314293|314299|314300|314328|314329|314330|314332|314339|314341|314346|314351|314359|314368|314371|314372|314374|314375|314376|314383|314384|314385|314386|314387|314388|314390|314391|314392|314398|314399|314400|314402|314407|314409|314410|314411|314412|314413|314415|314417|314423|314424|314425|314426|360899|535247|535248|535249|535250|535251|609693|609694|609696|609698|711527|711530|723086|723087|723093|736649|736650|736654|751139|751140|751148|751154|751155|766806|775249|777707|777758|790800|799539|799540|799541|799542|799543|799544|799545|799546|799547|799548|799549|818256|899535|899536|899537|899538|899539|899540|899541|899542|899543|899544|899545|899546|899547|899548|899549|899550|899551|899552|899553|899554|899555|899556|899557|899558|899559|899560|899561|899562|899563|899564|899565|899566|899567|899568|899569|899570|899571|899572|899573|899574|899575|899576|899577|899578|899579|899580|899581|899582|899583|899584|899585|899586|899587|899588|899589|899590|899591|899592|899593|899594|899595|899596|899597|899598|899599|899600|899601|899602|899603|899604|899605|899606|900493|900494|900495|900496|900497|900498|900499|919153|961857|967231|981626|981627|981628|981629|981630|981631|981632|981633|981634|981635|981636|981637|981638|981639|981640|981641|981642|981643|981644|981645|981646|981647|981648", "text": "Spherocytosis type 1" }, { - "baseId": "15546|15547|15551|15552|15553", + "upstreamId": "15546|15547|15551|15552|15553", "text": "Spherocytosis, type 1, autosomal recessive" }, { - "baseId": "15555|15556|15557|141827|200127|226902|227302|300924|300928|300929|300933|303860|303862|303871|303875|303876|303878|303882|303883|303891|308509|308516|308532|308550|308561|308562|308563|308566|369159|369165|434613|438330|443978|501400|522143|563682|635126|635127|635128|635129|672068|765800|788804|832283|832284|832285|832286|832287|832288|896780|896781|896782|896783|896784|896785|896786|896787|896788|896789|896790|900259|900260|933430|945135", + "upstreamId": "15555|15556|15557|141827|200127|226902|227302|300924|300928|300929|300933|303860|303862|303871|303875|303876|303878|303882|303883|303891|308509|308516|308532|308550|308561|308562|308563|308566|369159|369165|434613|438330|443978|501400|522143|563682|635126|635127|635128|635129|672068|765800|788804|832283|832284|832285|832286|832287|832288|896780|896781|896782|896783|896784|896785|896786|896787|896788|896789|896790|900259|900260|933430|945135", "text": "Methylmalonic aciduria and homocystinuria type cblF" }, { - "baseId": 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+ "upstreamId": 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48|892849|892850|892851|892852|892853|892854|892855|892856|892857|892858|892859|892860|892861|892862|892863|892864|896026|896027|896028|923749|923750|923751|923752|923753|923754|923755|923756|923757|923758|923759|923760|923761|923762|923763|923764|923765|923766|923767|923768|923769|923770|932611|932612|932613|932614|932615|932616|932617|932618|932619|932620|932621|932622|932623|932624|932625|939978|944285|944286|944287|944288|944289|944290|944291|953942|953944|953945|953946|953947|953948|953949|953950|953951|953952|959745|965440|966344|977207|977208", "text": "Congenital contractural arachnodactyly" }, { - "baseId": "15568|101787|101788|101789|101790|175940|190557|192499|205407|213109|213111|222368|222369|222371|230527|230529|230531|230532|241844|241846|241847|254957|254958|254959|254960|254964|254965|254966|320641|320642|320643|320648|329433|329435|329436|329450|329451|329456|329457|335996|336009|336011|336020|337969|337974|337977|337981|399648|620482|693497|791409|871893|871894|871895|871896|871897|871898|871899|871900|871901|871902|871903|871904|871905|871906|871907|871908|871909|871910|871911|871912", + "upstreamId": "15568|101787|101788|101789|101790|175940|190557|192499|205407|213109|213111|222368|222369|222371|230527|230529|230531|230532|241844|241846|241847|254957|254958|254959|254960|254964|254965|254966|320641|320642|320643|320648|329433|329435|329436|329450|329451|329456|329457|335996|336009|336011|336020|337969|337974|337977|337981|399648|620482|693497|791409|871893|871894|871895|871896|871897|871898|871899|871900|871901|871902|871903|871904|871905|871906|871907|871908|871909|871910|871911|871912", "text": "Ciliary dyskinesia, primary, 10" }, { - "baseId": 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+ "upstreamId": 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"text": "Hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities" }, { - "baseId": "15573|15574|15575|15576|15577|15578|99509|99515|99521|99524|116527|140950|140956|140959|140963|140964|140965|140966|140968|140969|140970|140975|152820|152830|177110|177373|191520|191778|191986|192093|192826|192827|192896|193097|193098|193099|193777|194347|205152|205153|238032|247005|265562|266046|271533|274143|300904|300912|303823|303824|303831|303833|303846|308450|308477|308508|308531|389200|406887|406889|431696|431697|431705|431712|431714|438326|486397|512912|513965|543884|543888|543895|543897|543900|543902|543908|543910|543915|543921|543937|543952|543956|544194|544201|544203|544208|544217|544229|544240|544272|544275|544278|544280|544282|544284|544286|544292|544296|544302|544303|551546|551548|551549|551550|551551|551552|551608|551621|551622|551623|551624|590282|590283|610616|610617|611354|623294|623295|710580|710583|730434|735720|735721|735722|735726|744294|750154|765772|765774|765781|765785|765790|777640|782608|782625|782628|790645|790646|790647|790648|790649|790650|790651|790652|790653|790654|790655|790656|799448|799449|799450|799451|800356|818251|818252|832163|832169|832183|832190|832191|832208|832218|832219|832227|832229|832254|832263|832269|832276|852028|970836|980330|981552", + "upstreamId": "15573|15574|15575|15576|15577|15578|99509|99515|99521|99524|116527|140950|140956|140959|140963|140964|140965|140966|140968|140969|140970|140975|152820|152830|177110|177373|191520|191778|191986|192093|192826|192827|192896|193097|193098|193099|193777|194347|205152|205153|238032|247005|265562|266046|271533|274143|300904|300912|303823|303824|303831|303833|303846|308450|308477|308508|308531|389200|406887|406889|431696|431697|431705|431712|431714|438326|486397|512912|513965|543884|543888|543895|543897|543900|543902|543908|543910|543915|543921|543937|543952|543956|544194|544201|544203|544208|544217|544229|544240|544272|544275|544278|544280|544282|544284|544286|544292|544296|544302|544303|551546|551548|551549|551550|551551|551552|551608|551621|551622|551623|551624|590282|590283|610616|610617|611354|623294|623295|710580|710583|730434|735720|735721|735722|735726|744294|750154|765772|765774|765781|765785|765790|777640|782608|782625|782628|790645|790646|790647|790648|790649|790650|790651|790652|790653|790654|790655|790656|799448|799449|799450|799451|800356|818251|818252|832163|832169|832183|832190|832191|832208|832218|832219|832227|832229|832254|832263|832269|832276|852028|970836|980330|981552", "text": "Retinitis pigmentosa 25" }, { - "baseId": "15579|15580|39914|39915|39916|136044|136045|136046|136047|141380|141381|141382|200166|200167|200168|200169|200170|200172|215388|267661|305828|305830|305831|305833|305837|305839|305840|305842|309911|309912|309913|309919|309927|315124|315128|315129|315132|315133|315134|315216|315219|315222|315223|315225|315229|315232|315233|315234|315235|315238|315245|315246|369567|407452|457964|458527|458528|458604|481492|502786|524025|561847|565210|565212|565213|568096|620304|637387|637388|637389|736749|798605|819985|835030|835031|835032|835033|835034|835035|835036|835037|900001|900002|900003|900004|900005|900006|900007|900008|900009|900010|900011|900012|900013|900014|900015|900016|900017|900516|925259|925260|934417|934418|955499", + "upstreamId": "15579|15580|39914|39915|39916|136044|136045|136046|136047|141380|141381|141382|200166|200167|200168|200169|200170|200172|215388|267661|305828|305830|305831|305833|305837|305839|305840|305842|309911|309912|309913|309919|309927|315124|315128|315129|315132|315133|315134|315216|315219|315222|315223|315225|315229|315232|315233|315234|315235|315238|315245|315246|369567|407452|457964|458527|458528|458604|481492|502786|524025|561847|565210|565212|565213|568096|620304|637387|637388|637389|736749|798605|819985|835030|835031|835032|835033|835034|835035|835036|835037|900001|900002|900003|900004|900005|900006|900007|900008|900009|900010|900011|900012|900013|900014|900015|900016|900017|900516|925259|925260|934417|934418|955499", "text": "Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2" }, { - "baseId": "15582|15583|15584|15585|53206|53207|53208|174808|230229|230234|230235|230237|315088|315089|315090|315091|315096|315099|315108|315109|315113|315115|315116|315117|315123|315125|321908|321909|321913|321914|321922|321924|321926|321929|327985|327987|327996|328003|328009|329098|329102|329112|329130|329138|329140|329149|329150|329158|329159|329164|329176|329179|329194|578494|615815|620419|620836|868756|868757|868758|868759|868760|868761|868762|868763|868764|868765|868766|868767|868768|868769|868772|868773|868774|868775|868776|868777|868778|868779|872135", + "upstreamId": "15582|15583|15584|15585|53206|53207|53208|174808|230229|230234|230235|230237|315088|315089|315090|315091|315096|315099|315108|315109|315113|315115|315116|315117|315123|315125|321908|321909|321913|321914|321922|321924|321926|321929|327985|327987|327996|328003|328009|329098|329102|329112|329130|329138|329140|329149|329150|329158|329159|329164|329176|329179|329194|578494|615815|620419|620836|868756|868757|868758|868759|868760|868761|868762|868763|868764|868765|868766|868767|868768|868769|868772|868773|868774|868775|868776|868777|868778|868779|872135", "text": "Deafness, autosomal recessive 63" }, { - "baseId": 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+ "upstreamId": 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"text": "Rare genetic deafness" }, { - "baseId": "15586|140308|211343|359159|359160|359161|359163|359164|917814|917815|919178", + "upstreamId": "15586|140308|211343|359159|359160|359161|359163|359164|917814|917815|919178", "text": "Mitochondrial complex 1 deficiency, nuclear type 17" }, { - "baseId": 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+ "upstreamId": "15587|15588|15589|15590|15591|15592|15593|15594|15595|15596|15597|15598|15599|15601|39908|256682|256683|331767|331768|331771|331776|331785|331790|331792|331793|331795|331798|331801|331802|331805|331808|331810|331814|331816|331828|331829|331831|331834|331837|331842|331846|331850|331853|331873|331875|331895|331897|331901|342058|342061|342062|342065|342067|342069|342079|342080|342083|342084|342090|342091|342094|342095|342097|342099|342102|342103|342110|342113|342114|342120|342124|342126|342128|342132|342134|342145|347435|347436|347439|347442|347443|347444|347448|347449|347453|347454|347455|347459|347462|347463|347465|347466|347470|347475|347476|347479|347482|347483|347485|347487|347490|347492|348769|348770|348778|348781|348782|348783|348786|348787|348789|348791|348792|348795|348797|348798|348801|348803|348807|348808|348811|348812|348813|348814|348823|348824|348829|348844|348846|348848|348853|348854|348857|348862|348865|348866|348868|348873|348874|348875|362176|612137|620623|620624|791873|791874|791875|880678|880679|980384", "text": "Protoporphyria, erythropoietic, 1" }, { - "baseId": "15589|15601|214205|214208|214224", + "upstreamId": "15589|15601|214205|214208|214224", "text": "Jaundice" }, { - "baseId": "15589|15601", + "upstreamId": "15589|15601", "text": "Erythema" }, { - "baseId": 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"text": "-" }, { - "baseId": "15601|918495", + "upstreamId": "15601|918495", "text": "Autosomal erythropoietic protoporphyria" }, { - "baseId": 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+ "upstreamId": 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"text": "Histiocytosis-lymphadenopathy plus syndrome" }, { - "baseId": "15609|15610|140303|359158|361116|550094|788935|791972|800167", + "upstreamId": "15609|15610|140303|359158|361116|550094|788935|791972|800167", "text": "Mitochondrial complex 1 deficiency, nuclear type 16" }, { - "baseId": "15611", + "upstreamId": "15611", "text": "Kininogen deficiency, total" }, { - "baseId": "15612|15613|15614|227257", + "upstreamId": "15612|15613|15614|227257", "text": "High molecular weight kininogen deficiency" }, { - "baseId": 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896|979255|979256|979257|979258|979259|979260|979261|979262|979263|979264|979265|979266|979267", "text": "Phenylketonuria" }, { - "baseId": "15622|15625|15632|15656|15657|15663|15664|15667|15669|15670|15671|15672|15677|15678|98641|98657|98658|108462|108488", + "upstreamId": "15622|15625|15632|15656|15657|15663|15664|15667|15669|15670|15671|15672|15677|15678|98641|98657|98658|108462|108488", "text": "Hyperphenylalaninemia, non-pku" }, { - "baseId": "15655|15666", + "upstreamId": "15655|15666", "text": "Mild non-PKU hyperphenylalanemia" }, { - "baseId": "15667|237522|406083|406687|424694|428391|514326|540506|550579|550587|550621|550636|550742|626435|677338|677339|677340|677341|677342|677343|677344|677345|677346|677347|677348|677349|677350|677351|677352|677353|677354|677355|677356|677357|677358|677359|677360|677361|677362|677363|677364|677365|677366|677367|677368|677369|677370|677371|677372|677373|677374|677375|677376|677377|677378|677379|677380|677381|677382|677383|677384|677385|677386|677387|677388|677389|677390|677391|677392|677393|677394|677395|677396|677397|677398|677399|677956", + "upstreamId": "15667|237522|406083|406687|424694|428391|514326|540506|550579|550587|550621|550636|550742|626435|677338|677339|677340|677341|677342|677343|677344|677345|677346|677347|677348|677349|677350|677351|677352|677353|677354|677355|677356|677357|677358|677359|677360|677361|677362|677363|677364|677365|677366|677367|677368|677369|677370|677371|677372|677373|677374|677375|677376|677377|677378|677379|677380|677381|677382|677383|677384|677385|677386|677387|677388|677389|677390|677391|677392|677393|677394|677395|677396|677397|677398|677399|677956", "text": "Marfanoid habitus and intellectual disability" }, { - "baseId": "15671", + "upstreamId": "15671", "text": "Hyperphenylalaninaemia" }, { - "baseId": "15679|613488", + "upstreamId": "15679|613488", "text": "Endocrine-cerebroosteodysplasia" }, { - "baseId": "15680|361580|788673|788674|788675|858628|858629", + "upstreamId": "15680|361580|788673|788674|788675|858628|858629", "text": "Combined oxidative phosphorylation deficiency 44" }, { - "baseId": "15681|28349|29054|33100", + "upstreamId": "15681|28349|29054|33100", "text": "Ischemic stroke, susceptibility to" }, { - "baseId": "15681", + "upstreamId": "15681", "text": "Budd-Chiari syndrome, susceptibility to" }, { - "baseId": "15681|558220|610573", + "upstreamId": "15681|558220|610573", "text": "Recurrent abortion" }, { - "baseId": "15681|15681|15685|15686|15687|15688|15689|15690|15691|15692|15693|38307|227743|249498|249500|249502|249503|249504|249505|249506|249507|249508|249510|249511|249512|249513|249514|249515|249516|249517|249518|249520|249521|249522|249523|249524|249525|249526|277166|277168|277179|277180|277191|277192|277194|277195|277214|277219|277220|277221|277222|277225|277248|277249|277250|277252|277253|277254|277257|277260|277261|277262|277263|277270|277272|277273|277294|277416|277422|277423|277427|277428|277435|277443|277444|277452|277454|277458|277459|277466|277467|277468|277471|277472|277474|277480|277482|277486|277489|277492|277494|277498|277504|277505|278219|278222|278240|278256|278260|278261|278262|278263|278264|278267|278268|278269|278270|278271|278278|278280|278281|278288|278289|278291|278295|278297|278298|278305|278307|278309|278310|278312|278316|278317|278318|278325|278328|278329|278330|278332|278334|278336|278338|278340|278341|278342|278343|278350|278351|278352|278360|278364|278373|278374|278383|557032|558220|558220|615275|615276|615278|615279|615280|615281|615282|615283|615284|615285|615286|615287|615288|615289|615290|615291|615718|619964|627058|654174|706851|706852|706853|718361|718365|718366|718368|718369|718370|718372|718374|731854|731855|731856|743730|745824|745828|745830|745832|777016|778749|788955|862698|862699|862700|862701|862702|862703|862704|862705|862706|862707|862708|862709|862710|862711|862712|862713|862714|862715|862716|862717|862718|862719|862720|862721|862722|862723|862724|862725|862726|862727|862728|862729|862730|862731|862732|862733|862734|862735|862736|862737|862738|862739|862740|862741|862742|862743|862744|862745|862746|862747|862748|862749|862750|862751|862752|862753|865026|865027|865028|966342", + "upstreamId": "15681|15681|15685|15686|15687|15688|15689|15690|15691|15692|15693|38307|227743|249498|249500|249502|249503|249504|249505|249506|249507|249508|249510|249511|249512|249513|249514|249515|249516|249517|249518|249520|249521|249522|249523|249524|249525|249526|277166|277168|277179|277180|277191|277192|277194|277195|277214|277219|277220|277221|277222|277225|277248|277249|277250|277252|277253|277254|277257|277260|277261|277262|277263|277270|277272|277273|277294|277416|277422|277423|277427|277428|277435|277443|277444|277452|277454|277458|277459|277466|277467|277468|277471|277472|277474|277480|277482|277486|277489|277492|277494|277498|277504|277505|278219|278222|278240|278256|278260|278261|278262|278263|278264|278267|278268|278269|278270|278271|278278|278280|278281|278288|278289|278291|278295|278297|278298|278305|278307|278309|278310|278312|278316|278317|278318|278325|278328|278329|278330|278332|278334|278336|278338|278340|278341|278342|278343|278350|278351|278352|278360|278364|278373|278374|278383|557032|558220|558220|615275|615276|615278|615279|615280|615281|615282|615283|615284|615285|615286|615287|615288|615289|615290|615291|615718|619964|627058|654174|706851|706852|706853|718361|718365|718366|718368|718369|718370|718372|718374|731854|731855|731856|743730|745824|745828|745830|745832|777016|778749|788955|862698|862699|862700|862701|862702|862703|862704|862705|862706|862707|862708|862709|862710|862711|862712|862713|862714|862715|862716|862717|862718|862719|862720|862721|862722|862723|862724|862725|862726|862727|862728|862729|862730|862731|862732|862733|862734|862735|862736|862737|862738|862739|862740|862741|862742|862743|862744|862745|862746|862747|862748|862749|862750|862751|862752|862753|865026|865027|865028|966342", "text": "Factor V deficiency" }, { - "baseId": 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+ "upstreamId": 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"text": "Thrombophilia due to factor V Leiden" }, { - "baseId": "15682", + "upstreamId": "15682", "text": "Factor V Hong Kong" }, { - "baseId": "15695|15696|15698|15700|15701|15705|15707|15708|15709|15710|15711|15712|15713|15714|15716|15717|15718|15719|171062|171063|171064|171065|171066|171067|171068|171069|171070|171071|185963|221115|227218|227219|238360|238361|238362|238363|250153|250154|250155|281801|281808|281809|281820|282432|282437|282438|282458|282459|282462|282463|284085|284086|284285|284286|284301|284303|284305|391596|448562|448682|448774|448775|448776|513020|516326|516330|516337|516340|516346|516373|516413|516415|557504|557549|557551|557553|558711|558713|612185|612186|628433|628434|650813|683389|685113|685838|690738|794766|824737|824738|824739|824740|824741|881027|881028|881029|881030|881031|881032|881033|881034|881035|881036|881037|881038|881039|882795|922234|922235|930794|930795|942227|952630|961020|977178", + "upstreamId": "15695|15696|15698|15700|15701|15705|15707|15708|15709|15710|15711|15712|15713|15714|15716|15717|15718|15719|171062|171063|171064|171065|171066|171067|171068|171069|171070|171071|185963|221115|227218|227219|238360|238361|238362|238363|250153|250154|250155|281801|281808|281809|281820|282432|282437|282438|282458|282459|282462|282463|284085|284086|284285|284286|284301|284303|284305|391596|448562|448682|448774|448775|448776|513020|516326|516330|516337|516340|516346|516373|516413|516415|557504|557549|557551|557553|558711|558713|612185|612186|628433|628434|650813|683389|685113|685838|690738|794766|824737|824738|824739|824740|824741|881027|881028|881029|881030|881031|881032|881033|881034|881035|881036|881037|881038|881039|882795|922234|922235|930794|930795|942227|952630|961020|977178", "text": "Thrombophilia, hereditary, due to protein C deficiency, autosomal dominant" }, { - "baseId": "15697|15698|15699|15700|15701|15702|15703|15704|15705|15706|15714|15715|171068|615323|789084|798960", + "upstreamId": "15697|15698|15699|15700|15701|15702|15703|15704|15705|15706|15714|15715|171068|615323|789084|798960", "text": "Thrombophilia, hereditary, due to protein C deficiency, autosomal recessive" }, { - "baseId": "15698|15708|15714|171067|171070|238363|615310|615312|615313|615314|615315|615319|615320|615321|615322|615323|615324|615325|615326|615327|615720", + "upstreamId": "15698|15708|15714|171067|171070|238363|615310|615312|615313|615314|615315|615319|615320|615321|615322|615323|615324|615325|615326|615327|615720", "text": "Reduced protein C activity" }, { - "baseId": "15704|615294|615361|615615|801511", + "upstreamId": "15704|615294|615361|615615|801511", "text": "Abnormal thrombosis" }, { - "baseId": "15710|33051|171063|448774|615273|615277|615287|615288|615311|615371|615390|615392|615719|615723", + "upstreamId": "15710|33051|171063|448774|615273|615277|615287|615288|615311|615371|615390|615392|615719|615723", "text": "Thromboembolism" }, { - "baseId": "15714|33051|33073|171063|212340|448774|515340|558713|615287|615307|615311|615311|615316|615317|615318|615375|615376|615420|615421|615653|615865", + "upstreamId": "15714|33051|33073|171063|212340|448774|515340|558713|615287|615307|615311|615311|615316|615317|615318|615375|615376|615420|615421|615653|615865", "text": "Deep venous thrombosis" }, { - "baseId": "15720|15721|15722|15723|15724|15725|15726|15727|15728|15729|15730|15731|106585|106586|190216|190217|190218|195207|237099|271825|280105|280107|280111|280112|280117|280119|280123|280125|280126|280444|280446|280448|280450|280454|280456|281770|281921|281923|353101|448013|481387|481388|513388|549519|556916|557255|558431|578381|621079|650558|690559|696614|777118|780632|789108|823755|823756|858730|861140|864147|864148|864149|864150|864151|864152|864153|864154|864155|864156|865163|865164|941861|961825|967102|967103|967104|967105|969145|972778|972807|976707", + "upstreamId": "15720|15721|15722|15723|15724|15725|15726|15727|15728|15729|15730|15731|106585|106586|190216|190217|190218|195207|237099|271825|280105|280107|280111|280112|280117|280119|280123|280125|280126|280444|280446|280448|280450|280454|280456|281770|281921|281923|353101|448013|481387|481388|513388|549519|556916|557255|558431|578381|621079|650558|690559|696614|777118|780632|789108|823755|823756|858730|861140|864147|864148|864149|864150|864151|864152|864153|864154|864155|864156|865163|865164|941861|961825|967102|967103|967104|967105|969145|972778|972807|976707", "text": "Fucosidosis" }, { - "baseId": "15730", + "upstreamId": "15730", "text": "FU1/FU2 POLYMORPHISM" }, { - "baseId": "15732|15733|15734|15735|15736|39901|39902|227332|307313|307314|307315|307319|307322|307323|307324|307327|307328|307329|307330|307338|307339|307341|307342|307344|307348|307349|307357|307364|311619|311625|311626|311627|311630|311643|311645|311650|311652|311655|311656|311657|311660|317115|317120|317125|317126|317127|317128|317129|317131|317138|317152|317154|317156|317158|317556|317557|317559|317561|317564|317567|317572|317575|317581|317583|317584|419138|508835|508836|514842|612849|613383|901380|901381|901382|901383|901384|901385|901386|901387|901388|901389|901390|901391|901392|901393|901394|901395|901396|901397|901398|901399|901400|901401|901402|901403|901404|901405|901406|901407|901408|901409|901410|901411|901412|901413|901414|901415|901416|901417|901418|901419|901420|901421|901422|901423|901424|901425|901426|901427|901428|901429|901430|901431|901432|901433|901434|901435|901436|901437|901438|903340|903341|903342|903343|903344|903345|903346|903347|903558|919196|919197|919198", + "upstreamId": "15732|15733|15734|15735|15736|39901|39902|227332|307313|307314|307315|307319|307322|307323|307324|307327|307328|307329|307330|307338|307339|307341|307342|307344|307348|307349|307357|307364|311619|311625|311626|311627|311630|311643|311645|311650|311652|311655|311656|311657|311660|317115|317120|317125|317126|317127|317128|317129|317131|317138|317152|317154|317156|317158|317556|317557|317559|317561|317564|317567|317572|317575|317581|317583|317584|419138|508835|508836|514842|612849|613383|901380|901381|901382|901383|901384|901385|901386|901387|901388|901389|901390|901391|901392|901393|901394|901395|901396|901397|901398|901399|901400|901401|901402|901403|901404|901405|901406|901407|901408|901409|901410|901411|901412|901413|901414|901415|901416|901417|901418|901419|901420|901421|901422|901423|901424|901425|901426|901427|901428|901429|901430|901431|901432|901433|901434|901435|901436|901437|901438|903340|903341|903342|903343|903344|903345|903346|903347|903558|919196|919197|919198", "text": "Geleophysic dysplasia 1" }, { - "baseId": "15737|15738|15739|15740|15741|15742|15743|15744|15745|15746|15747|15748|15749|15750|15751|15752|15753|33442|99072|99074|99075|99079|99086|99087|99089|99090|99093|99094|190091|190760|191341|194310|195248|195588|198638|226602|255948|255953|255955|255957|260136|260138|265255|268429|272490|326786|326798|326799|326806|326808|336634|336637|336643|336644|336661|336662|336664|336669|336671|336672|342873|342880|342882|342886|342892|342894|342895|342901|342903|342905|342907|342911|342912|342913|342915|344525|344528|344530|344532|344533|344537|344538|344542|344544|344549|344550|344556|344559|353371|377894|466842|512231|512232|513364|513638|529245|529284|530382|530388|530498|530499|530696|530921|549737|570601|570603|570605|570616|574200|574202|611356|612195|612315|621552|621553|622436|645116|645117|645118|645119|645121|645122|645123|652775|653170|703896|726918|740495|740496|740499|755531|755533|788903|789382|791649|791650|791651|820910|820911|820912|844476|844477|844478|844479|844480|844481|851689|852677|852679|858650|861185|861186|861187|861188|861189|861191|861281|876147|876148|876149|876150|876151|876152|876153|876154|876155|876156|876157|876158|876159|876160|876161|876162|876163|876164|876165|876166|876167|876168|876169|876170|876171|876172|876173|876174|876175|876176|876177|876178|876735|904966|928002|937656|937657|940377|941152|961878|970240", + "upstreamId": "15737|15738|15739|15740|15741|15742|15743|15744|15745|15746|15747|15748|15749|15750|15751|15752|15753|33442|99072|99074|99075|99079|99086|99087|99089|99090|99093|99094|190091|190760|191341|194310|195248|195588|198638|226602|255948|255953|255955|255957|260136|260138|265255|268429|272490|326786|326798|326799|326806|326808|336634|336637|336643|336644|336661|336662|336664|336669|336671|336672|342873|342880|342882|342886|342892|342894|342895|342901|342903|342905|342907|342911|342912|342913|342915|344525|344528|344530|344532|344533|344537|344538|344542|344544|344549|344550|344556|344559|353371|377894|466842|512231|512232|513364|513638|529245|529284|530382|530388|530498|530499|530696|530921|549737|570601|570603|570605|570616|574200|574202|611356|612195|612315|621552|621553|622436|645116|645117|645118|645119|645121|645122|645123|652775|653170|703896|726918|740495|740496|740499|755531|755533|788903|789382|791649|791650|791651|820910|820911|820912|844476|844477|844478|844479|844480|844481|851689|852677|852679|858650|861185|861186|861187|861188|861189|861191|861281|876147|876148|876149|876150|876151|876152|876153|876154|876155|876156|876157|876158|876159|876160|876161|876162|876163|876164|876165|876166|876167|876168|876169|876170|876171|876172|876173|876174|876175|876176|876177|876178|876735|904966|928002|937656|937657|940377|941152|961878|970240", "text": "Mucopolysaccharidosis, MPS-IV-A" }, { - "baseId": "15739|15742|15747|15750|15752|99069|195587|196191|255948|265255|290017|290775|293951|294412|326781|326785|326786|336625|336637|336644|336662|342867|342872|342873|342882|342884|342892|342895|342907|342908|344521|344525|344528|344533|344537|344556|353363|512233|574202|621553|621849|645119|917223", + "upstreamId": "15739|15742|15747|15750|15752|99069|195587|196191|255948|265255|290017|290775|293951|294412|326781|326785|326786|336625|336637|336644|336662|342867|342872|342873|342882|342884|342892|342895|342907|342908|344521|344525|344528|344533|344537|344556|353363|512233|574202|621553|621849|645119|917223", "text": "Morquio syndrome" }, { - "baseId": "15754|15755|15756|15757|15758|15759|15760|136214|136215|136216|136217|136218|136219|136220|136221|299745|299746|299750|302338|302339|306735|306739|306746|306747|307035|307041|307058|513062|895738|895739|895740|895741|895742|895743|895744", + "upstreamId": "15754|15755|15756|15757|15758|15759|15760|136214|136215|136216|136217|136218|136219|136220|136221|299745|299746|299750|302338|302339|306735|306739|306746|306747|307035|307041|307058|513062|895738|895739|895740|895741|895742|895743|895744", "text": "Transient neonatal diabetes mellitus 1" }, { - "baseId": "15761|15762|15763|15764|15765", + "upstreamId": "15761|15762|15763|15764|15765", "text": "Slow acetylator due to N-acetyltransferase enzyme variant" }, { - "baseId": "15761", + "upstreamId": "15761", "text": "ethambutol, isoniazid, pyrazinamide, and rifampin response - Toxicity/ADR, Metabolism/PK" }, { - "baseId": "15766|15767", + "upstreamId": "15766|15767", "text": "Skin/hair/eye pigmentation, variation in, 10" }, { - "baseId": "15768|141594|211105|295307|295317|295319|295320|295333|295343|295344|297113|297114|297121|300824|300825|300826|300829|300846|300854|300859|300861|300884|300953|300955|300958|300964|300965|300966|655637|892885|892886|892887|892888|892889|892890|892891|892892|892893|892894|892895|892896|892897|892898|892899|892900|892901|892902|892903", + "upstreamId": "15768|141594|211105|295307|295317|295319|295320|295333|295343|295344|297113|297114|297121|300824|300825|300826|300829|300846|300854|300859|300861|300884|300953|300955|300958|300964|300965|300966|655637|892885|892886|892887|892888|892889|892890|892891|892892|892893|892894|892895|892896|892897|892898|892899|892900|892901|892902|892903", "text": "Mitochondrial complex III deficiency, nuclear type 4" }, { - "baseId": "15769|15770|39899|39900|132428|132435|132447|190335|190336|190337|190338|190339|190342|190343|192274|192275|192279|192280|192286|192287|237472|265442|265908|266137|266288|267181|267182|267817|269224|269279|269680|269681|269682|270787|272749|272750|275478|292156|292158|292165|292167|292173|292178|293592|293599|293600|293608|293609|293614|293615|296899|296900|296901|296905|296906|296907|296911|296912|296914|296920|296922|296923|296926|296933|296935|296943|326618|326633|326640|326644|326646|326647|326648|326651|326652|326653|326660|326662|326663|326664|326672|326674|326675|326676|326680|326681|326685|326686|326689|326691|326692|326699|326702|326705|326706|326710|326711|326712|326713|326721|326723|326724|326726|326727|326728|326731|326733|326734|326735|326739|326741|326742|326744|326745|326746|326750|326752|326753|326754|326758|336430|336431|336438|336440|336441|336442|336444|336447|336449|336452|336454|336455|336456|336458|336461|336463|336465|336468|336470|336471|336473|336476|336479|336481|336483|336486|336497|336502|336503|336507|336508|336509|336515|336516|336520|336521|336522|336526|336527|336529|336532|336533|336534|336539|336541|336545|336547|336548|336549|336551|342666|342667|342671|342674|342675|342678|342682|342684|342691|342697|342708|342709|342712|342714|342716|342717|342719|342726|342730|342740|342744|342745|342748|342751|342755|342761|342766|342771|342772|342773|342774|342784|342785|342787|342792|342795|342796|342798|342800|342801|342802|342806|342807|342808|342817|342818|342826|342827|342830|342833|342834|342835|342839|342844|344274|344276|344279|344281|344284|344287|344288|344289|344296|344300|344301|344309|344310|344316|344320|344321|344332|344333|344337|344338|344340|344345|344347|344349|344350|344352|344353|344356|344361|344362|344367|344372|344376|344377|344386|344389|344390|344392|344393|344397|344398|344400|344401|344407|344408|344417|344421|344422|344425|344428|344430|344431|344433|344437|344441|344442|344444|344446|344454|344458|344460|344465|344469|344471|360310|374694|375580|409764|409765|409770|415516|422116|422120|426187|426188|445637|514067|514068|536168|614431|672124|672125|969119|969120|969121|969122|969123", + "upstreamId": "15769|15770|39899|39900|132428|132435|132447|190335|190336|190337|190338|190339|190342|190343|192274|192275|192279|192280|192286|192287|237472|265442|265908|266137|266288|267181|267182|267817|269224|269279|269680|269681|269682|270787|272749|272750|275478|292156|292158|292165|292167|292173|292178|293592|293599|293600|293608|293609|293614|293615|296899|296900|296901|296905|296906|296907|296911|296912|296914|296920|296922|296923|296926|296933|296935|296943|326618|326633|326640|326644|326646|326647|326648|326651|326652|326653|326660|326662|326663|326664|326672|326674|326675|326676|326680|326681|326685|326686|326689|326691|326692|326699|326702|326705|326706|326710|326711|326712|326713|326721|326723|326724|326726|326727|326728|326731|326733|326734|326735|326739|326741|326742|326744|326745|326746|326750|326752|326753|326754|326758|336430|336431|336438|336440|336441|336442|336444|336447|336449|336452|336454|336455|336456|336458|336461|336463|336465|336468|336470|336471|336473|336476|336479|336481|336483|336486|336497|336502|336503|336507|336508|336509|336515|336516|336520|336521|336522|336526|336527|336529|336532|336533|336534|336539|336541|336545|336547|336548|336549|336551|342666|342667|342671|342674|342675|342678|342682|342684|342691|342697|342708|342709|342712|342714|342716|342717|342719|342726|342730|342740|342744|342745|342748|342751|342755|342761|342766|342771|342772|342773|342774|342784|342785|342787|342792|342795|342796|342798|342800|342801|342802|342806|342807|342808|342817|342818|342826|342827|342830|342833|342834|342835|342839|342844|344274|344276|344279|344281|344284|344287|344288|344289|344296|344300|344301|344309|344310|344316|344320|344321|344332|344333|344337|344338|344340|344345|344347|344349|344350|344352|344353|344356|344361|344362|344367|344372|344376|344377|344386|344389|344390|344392|344393|344397|344398|344400|344401|344407|344408|344417|344421|344422|344425|344428|344430|344431|344433|344437|344441|344442|344444|344446|344454|344458|344460|344465|344469|344471|360310|374694|375580|409764|409765|409770|415516|422116|422120|426187|426188|445637|514067|514068|536168|614431|672124|672125|969119|969120|969121|969122|969123", "text": "Brittle cornea syndrome 1" }, { - "baseId": "15771|790691|790692", + "upstreamId": "15771|790691|790692", "text": "Alopecia, neurologic defects, and endocrinopathy syndrome" }, { - "baseId": "15772|16674", + "upstreamId": "15772|16674", "text": "Spinocerebellar ataxia type 31" }, { - "baseId": "15773|45531|45533|45534|49357|55303|55304|55305|55306|55308|55311|55312|55315|55317|55318|55319|55320|55321|55322|94537|173751|173752|173754|173755|173757|173893|173894|173895|173896|178508|178510|178511|189774|189775|189776|189778|198140|198141|198142|198143|198145|198146|198151|198152|198153|198154|198156|198157|198160|224261|229022|229024|236758|239109|239110|239111|239112|258285|258288|258292|260346|289698|289701|292649|292652|292883|292884|367249|368225|393310|393329|393331|393338|393343|393397|393568|393769|393774|393781|421422|440759|451872|451882|451882|452099|452110|452227|452229|452232|452233|452337|452339|500567|500568|509563|509565|509569|509571|518906|518910|518911|518932|518934|519092|519101|519105|519106|519116|519122|519127|558824|559353|559355|561221|562484|616817|616821|616823|616824|621149|630966|630967|630968|630969|630970|630971|630972|630973|630974|630975|630976|630977|630978|630979|630980|651061|683541|686337|686338|686339|686341|686342|689732|691316|748045|759233|763657|795337|795339|819330|827573|827574|827575|827576|827577|827578|827579|827580|827581|827582|827583|827584|827585|827586|827587|827588|827589|851536|851538|909115|909129|909142|909157|909160|909170|909171|915624|915629|923062|923063|923064|931781|931782|931783|931784|931785|931786|943344|943345|943346|943347|953346|959682", + "upstreamId": "15773|45531|45533|45534|49357|55303|55304|55305|55306|55308|55311|55312|55315|55317|55318|55319|55320|55321|55322|94537|173751|173752|173754|173755|173757|173893|173894|173895|173896|178508|178510|178511|189774|189775|189776|189778|198140|198141|198142|198143|198145|198146|198151|198152|198153|198154|198156|198157|198160|224261|229022|229024|236758|239109|239110|239111|239112|258285|258288|258292|260346|289698|289701|292649|292652|292883|292884|367249|368225|393310|393329|393331|393338|393343|393397|393568|393769|393774|393781|421422|440759|451872|451882|451882|452099|452110|452227|452229|452232|452233|452337|452339|500567|500568|509563|509565|509569|509571|518906|518910|518911|518932|518934|519092|519101|519105|519106|519116|519122|519127|558824|559353|559355|561221|562484|616817|616821|616823|616824|621149|630966|630967|630968|630969|630970|630971|630972|630973|630974|630975|630976|630977|630978|630979|630980|651061|683541|686337|686338|686339|686341|686342|689732|691316|748045|759233|763657|795337|795339|819330|827573|827574|827575|827576|827577|827578|827579|827580|827581|827582|827583|827584|827585|827586|827587|827588|827589|851536|851538|909115|909129|909142|909157|909160|909170|909171|915624|915629|923062|923063|923064|931781|931782|931783|931784|931785|931786|943344|943345|943346|943347|953346|959682", "text": "Arrhythmogenic right ventricular cardiomyopathy, type 5" }, { - "baseId": 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+ "upstreamId": 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"text": "Arrhythmogenic right ventricular cardiomyopathy" }, { - "baseId": "15773|24413|44669|48063|54073|54183|54200|54216|54230|54235|78880|171193|178554|178726|196985|198417|198419|198450|204196|390709|390710|408639|487491|487607|905934", + "upstreamId": "15773|24413|44669|48063|54073|54183|54200|54216|54230|54235|78880|171193|178554|178726|196985|198417|198419|198450|204196|390709|390710|408639|487491|487607|905934", "text": "Familial isolated arrhythmogenic right ventricular dysplasia" }, { - "baseId": 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"text": "Hypertrophic cardiomyopathy" }, { - "baseId": "15774|15775", + "upstreamId": "15774|15775", "text": "Recombination rate quantitative trait locus 1" }, { - "baseId": "15776|15777|15778|15779|252155", + "upstreamId": "15776|15777|15778|15779|252155", "text": "Iodotyrosine deiodination defect" }, { - "baseId": "15780|15782|15783|15784|15786|15787|70942|70943|70948|70951|98767|99436|131759|131760|131761|131766|131766|131768|131769|131772|131779|131780|177091|177556|177557|177559|191878|191878|191879|191983|195612|195613|207109|207110|207110|207111|207112|207113|212357|214170|214171|214172|214172|214173|214174|214175|214176|214177|214177|214178|214179|214180|214181|214182|214183|214184|214185|214186|214187|214188|214189|214190|214191|214192|214193|214194|214195|214196|239335|239335|239336|239340|239341|239342|251350|251352|251361|251362|251363|266978|267031|267183|269743|272794|272797|273009|274669|275428|292529|292604|292624|292625|292627|292629|292631|293976|293984|293991|294001|294003|294005|294011|294012|297363|297364|297376|297381|297387|297389|297392|297399|297400|297401|297411|297424|297439|297441|297442|297443|297444|297445|297446|297454|297458|297459|367617|367949|406406|406411|406413|421479|421481|421481|489382|489382|490151|493783|500929|513950|537655|559621|578428|586790|588876|588934|622340|622342|625795|632058|788767|788889|828900|828906|858589|890278|890279|890317|890318|890319|890320|890321|890322|890323|890324|890325|890326|890327|890328|890329|890330|891756|891757|891758|962154", + "upstreamId": "15780|15782|15783|15784|15786|15787|70942|70943|70948|70951|98767|99436|131759|131760|131761|131766|131766|131768|131769|131772|131779|131780|177091|177556|177557|177559|191878|191878|191879|191983|195612|195613|207109|207110|207110|207111|207112|207113|212357|214170|214171|214172|214172|214173|214174|214175|214176|214177|214177|214178|214179|214180|214181|214182|214183|214184|214185|214186|214187|214188|214189|214190|214191|214192|214193|214194|214195|214196|239335|239335|239336|239340|239341|239342|251350|251352|251361|251362|251363|266978|267031|267183|269743|272794|272797|273009|274669|275428|292529|292604|292624|292625|292627|292629|292631|293976|293984|293991|294001|294003|294005|294011|294012|297363|297364|297376|297381|297387|297389|297392|297399|297400|297401|297411|297424|297439|297441|297442|297443|297444|297445|297446|297454|297458|297459|367617|367949|406406|406411|406413|421479|421481|421481|489382|489382|490151|493783|500929|513950|537655|559621|578428|586790|588876|588934|622340|622342|625795|632058|788767|788889|828900|828906|858589|890278|890279|890317|890318|890319|890320|890321|890322|890323|890324|890325|890326|890327|890328|890329|890330|891756|891757|891758|962154", "text": "Joubert syndrome 9" }, { - "baseId": 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+ "upstreamId": "15781|15786|16372|16384|40033|70936|70937|70938|70939|70940|70941|70942|70943|70944|70945|70946|70947|70948|70949|70951|70953|70954|70955|70956|99436|131759|131760|131761|131766|131766|131768|131769|131772|131779|131780|177091|177557|177559|191878|191878|191879|191983|191984|195612|195613|207109|207110|207111|207112|212357|214172|214177|214182|214185|214187|239335|239335|239336|239340|239341|239342|251350|251352|251361|251362|251363|266978|267031|267183|269743|272794|272797|273009|274669|275428|292529|292604|292624|292625|292627|292629|292631|293976|293984|293991|294001|294003|294005|294011|294012|297363|297364|297376|297381|297387|297389|297392|297399|297400|297401|297411|297424|297439|297441|297442|297443|297444|297445|297446|297454|297458|297459|367617|367949|406406|406411|406413|421479|421481|421481|489382|489382|490151|493783|500929|578428|586790|588876|588934|622340|622342|632058|678048|678049|828900|890278|890279|890317|890318|890319|890320|890321|890322|890323|890324|890325|890326|890327|890328|890329|890330|891756|891757|891758|906239|906281|962154|970207|970208|970209|970229|970230|970232", "text": "Meckel syndrome type 6" }, { - "baseId": "15783|15785|15786|15787", + "upstreamId": "15783|15785|15786|15787", "text": "COACH SYNDROME 2" }, { - "baseId": "15786|39799|39800|39891", + "upstreamId": "15786|39799|39800|39891", "text": "Joubert syndrome 9/15, digenic" }, { - "baseId": 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"text": "Meckel-Gruber syndrome" }, { - "baseId": "15786|16113|16115|16410|16414|16417|16418|16419|16420|16422|131766|190880|191878|207110|214172|214177|214280|214282|227327|237317|239335|239342|272794|272797|273848|343287|367617|401969|406411|409651|421481|425214|489341|489382|513544|530184|578428|622340|622342|962154", + "upstreamId": "15786|16113|16115|16410|16414|16417|16418|16419|16420|16422|131766|190880|191878|207110|214172|214177|214280|214282|227327|237317|239335|239342|272794|272797|273848|343287|367617|401969|406411|409651|421481|425214|489341|489382|513544|530184|578428|622340|622342|962154", "text": "Joubert syndrome with hepatic defect" }, { - "baseId": 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"text": "Spastic paraplegia" }, { - "baseId": "15792|15793|15794|15795|15796|213536|389487|508777|508778|508779|508780|508781|512894|918754", + "upstreamId": "15792|15793|15794|15795|15796|213536|389487|508777|508778|508779|508780|508781|512894|918754", "text": "Parkinson disease 11" }, { - "baseId": "15797|15798|15799|49854|136058|136072|136074|136079|136083|207507|207512|207526|237027|304433|308154|308163|308166|308167|313190|313324|428773|428775|428783|428794|428796|538397|579537|620803|788823|900425|900426|900427|900428|904189|965972|966035", + "upstreamId": "15797|15798|15799|49854|136058|136072|136074|136079|136083|207507|207512|207526|237027|304433|308154|308163|308166|308167|313190|313324|428773|428775|428783|428794|428796|538397|579537|620803|788823|900425|900426|900427|900428|904189|965972|966035", "text": "Mental retardation, autosomal recessive 13" }, { - "baseId": "15800|15801|15802", + "upstreamId": "15800|15801|15802", "text": "Homocystinuria, cblD type, variant 1" }, { - "baseId": "15803|15804|15805", + "upstreamId": "15803|15804|15805", "text": "Methylmalonic aciduria, cblD type, variant 2" }, { - "baseId": "15803|15804|15805|15806|15807|15808|199983|199984|199985|215216|216021|216022|216023|216024|270084|282028|282035|282037|282047|282049|282051|282052|282710|282712|282720|282730|282731|282733|284333|284334|284337|284556|284557|284564|284565|284566|363942|365441|365640|480572|538949|628488|628489|628490|650836|690749|719280|719281|762214|762215|774585|790054|819051|819052|824812|824813|824814|824815|850791|881123|881124|881125|881126|882805|882806|942250|942251|952639|970198", + "upstreamId": "15803|15804|15805|15806|15807|15808|199983|199984|199985|215216|216021|216022|216023|216024|270084|282028|282035|282037|282047|282049|282051|282052|282710|282712|282720|282730|282731|282733|284333|284334|284337|284556|284557|284564|284565|284566|363942|365441|365640|480572|538949|628488|628489|628490|650836|690749|719280|719281|762214|762215|774585|790054|819051|819052|824812|824813|824814|824815|850791|881123|881124|881125|881126|882805|882806|942250|942251|952639|970198", "text": "Methylmalonic acidemia with homocystinuria cblD" }, { - "baseId": "15809|15810|15811|15812|15813|15814|15815|15816|15817|15818|15819|15820|39887|253062|253064|481381|790784", + "upstreamId": "15809|15810|15811|15812|15813|15814|15815|15816|15817|15818|15819|15820|39887|253062|253064|481381|790784", "text": "Amelogenesis imperfecta, hypocalcification type" }, { - "baseId": "15821|15822|224867", + "upstreamId": "15821|15822|224867", "text": "Myopathy with lactic acidosis, hereditary" }, { - "baseId": "15823|920287", + "upstreamId": "15823|920287", "text": "Cataract, juvenile, with microcornea and glucosuria" }, { - "baseId": "15824|102140|102141|192557|204228|204229|204230|204231|204232|204233|215289|271294|291191|291195|291200|291202|291203|291205|291209|291212|291213|291218|291219|291223|291224|291229|291230|291234|291245|291257|291259|292152|292153|292155|292160|292161|292162|292164|292166|292168|292207|292217|292223|292225|292226|292228|292231|292232|295593|295595|295604|295619|295620|295622|295628|295630|295633|295635|295643|295644|295654|295663|295664|295726|295729|295743|295770|295773|295776|295778|295784|295786|295789|295790|295797|295798|295810|295813|295814|368763|453437|481700|486813|519582|538361|559660|620767|626137|631744|686458|698249|708987|720577|720578|720579|734208|748442|798535|816451|889434|889435|889436|889437|889438|889439|889440|889441|889442|889443|889444|889445|889446|889447|889448|889449|889450|889451|889452|889453|889454|889455|889456|889457|889458|889459|889460|889461|889462|889463|889464|889465|889466|889467|889468|889469|889470|889471|891693|918849", + "upstreamId": "15824|102140|102141|192557|204228|204229|204230|204231|204232|204233|215289|271294|291191|291195|291200|291202|291203|291205|291209|291212|291213|291218|291219|291223|291224|291229|291230|291234|291245|291257|291259|292152|292153|292155|292160|292161|292162|292164|292166|292168|292207|292217|292223|292225|292226|292228|292231|292232|295593|295595|295604|295619|295620|295622|295628|295630|295633|295635|295643|295644|295654|295663|295664|295726|295729|295743|295770|295773|295776|295778|295784|295786|295789|295790|295797|295798|295810|295813|295814|368763|453437|481700|486813|519582|538361|559660|620767|626137|631744|686458|698249|708987|720577|720578|720579|734208|748442|798535|816451|889434|889435|889436|889437|889438|889439|889440|889441|889442|889443|889444|889445|889446|889447|889448|889449|889450|889451|889452|889453|889454|889455|889456|889457|889458|889459|889460|889461|889462|889463|889464|889465|889466|889467|889468|889469|889470|889471|891693|918849", "text": "Congenital disorder of glycosylation type 1N" }, { - "baseId": "15825|15826|15827|15828|551762|562669", + "upstreamId": "15825|15826|15827|15828|551762|562669", "text": "Brugada syndrome 2" }, { - "baseId": "15825|33098|40426|52937|57473|78586|78934|188506", + "upstreamId": "15825|33098|40426|52937|57473|78586|78934|188506", "text": "Death in infancy" }, { - "baseId": 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"text": "Brugada syndrome" }, { - "baseId": "15825|78451|78452|78528|487028|621159|621160|654323|972559", + "upstreamId": "15825|78451|78452|78528|487028|621159|621160|654323|972559", "text": "Brugada syndrome (shorter-than-normal QT interval)" }, { - "baseId": "15827|24428|24432|24636|24767|24768|77909|77927|77950|77952|78005|78322|78340|78368|78395|78427|78430|78435|78566|78601|78666|78681|78787|78846|141701|189321|222247", + "upstreamId": "15827|24428|24432|24636|24767|24768|77909|77927|77950|77952|78005|78322|78340|78368|78395|78427|78430|78435|78566|78601|78666|78681|78787|78846|141701|189321|222247", "text": "SUDDEN INFANT DEATH SYNDROME" }, { - "baseId": 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"text": "Primary familial hypertrophic cardiomyopathy" }, { - "baseId": 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"text": "Long QT syndrome" }, { - "baseId": "15829|21928|24750|24758|24759|29095|29097|33920|45630|59458|101651|134576|136391|140302|140303|142182|142197|195749|205140|205774|207213|210615|210797|211149|211150|211157|211565|211675|211676|211925|211926|226977|246907|275552|276897|277891|277894|277975|277989|277994|277997|284147|284169|284922|285476|285485|286190|286192|287223|287238|287257|287274|288486|288520|288525|288894|292000|297817|297817|297944|297946|297948|299993|303686|304362|304363|304367|304368|304388|304443|309036|314314|314316|314909|314910|314917|320418|320428|320430|320434|321722|321729|327780|328875|329187|329191|329201|329202|335813|335814|335817|335819|337676|337682|337687|342444|342879|349198|349201|349420|349421|349424|349425|349427|349428|350421|353482|359158|359993|360002|404755|408382|424968|439523|488342|513258|513313|513602|539032|539038|543697|550839|552061|552062|553389|576145|578436|619957|622426|679783|735048|735050|735051|742261|742262|742263|765072|765073|773006|773007|782269|858260|858261|861143|961239|978179|978180", + "upstreamId": "15829|21928|24750|24758|24759|29095|29097|33920|45630|59458|101651|134576|136391|140302|140303|142182|142197|195749|205140|205774|207213|210615|210797|211149|211150|211157|211565|211675|211676|211925|211926|226977|246907|275552|276897|277891|277894|277975|277989|277994|277997|284147|284169|284922|285476|285485|286190|286192|287223|287238|287257|287274|288486|288520|288525|288894|292000|297817|297817|297944|297946|297948|299993|303686|304362|304363|304367|304368|304388|304443|309036|314314|314316|314909|314910|314917|320418|320428|320430|320434|321722|321729|327780|328875|329187|329191|329201|329202|335813|335814|335817|335819|337676|337682|337687|342444|342879|349198|349201|349420|349421|349424|349425|349427|349428|350421|353482|359158|359993|360002|404755|408382|424968|439523|488342|513258|513313|513602|539032|539038|543697|550839|552061|552062|553389|576145|578436|619957|622426|679783|735048|735050|735051|742261|742262|742263|765072|765073|773006|773007|782269|858260|858261|861143|961239|978179|978180", "text": "Mitochondrial complex I deficiency" }, { - "baseId": "15830|39162|39163|134578", + "upstreamId": "15830|39162|39163|134578", "text": "Persistent truncus arteriosus (disease)" }, { - "baseId": "15831|153723|512951", + "upstreamId": "15831|153723|512951", "text": "Lipase deficiency, combined" }, { - "baseId": 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"text": "Familial adenomatous polyposis 1" }, { - "baseId": "15836|15837|15838|15839|15850|15855|15862|15863|15871|15878", + "upstreamId": "15836|15837|15838|15839|15850|15855|15862|15863|15871|15878", "text": "Gardner syndrome" }, { - "baseId": "15836|15868|33882|49939|49941|49944|49947|49948|49949|49950|49951|49952|49953|49955|49959|49962|49964|49965|49966|49973|51408|51409|51412|51413|51414|51415|51417|51419|51420|93507|94143|94147|94148|94151|94152|94153|94154|98256|98259|98260|132745|132752|136436|136453|136485|136497|136511|137256|137261|137263|137269|139395|139396|139402|139406|139416|139418|139421|139425|139428|139432|139436|140110|140111|140113|140114|150882|151150|151332|151402|151657|151915|180171|180193|180207|180217|180234|182352|182353|182357|182359|182384|182386|182402|182416|182427|182443|182478|182480|182483|182484|186026|212392|212412|212422|221524|221552|233003|233121|233137|233142|233144|233148|233221|233225|239530|239538|239602|294905|294906|294910|294911|294920|294922|294923|294924|294929|294934|294938|294939|294947|294949|294950|296697|296698|296702|296704|296707|296708|296709|296713|296715|296716|296717|300409|300412|300416|300417|300418|300419|300422|300423|300425|300427|300428|300432|300433|300439|300441|300442|300446|300447|300453|300456|300464|300465|300468|358771|367774|367807|369246|394830|394952|454083|454198|454355|454463|454532|473948|483756|483852|484002|520880|617228|632658|764683|807810|807929|808106|892631|892632|892633|892634|892635|892636|892637|892638|892639|892640|892641|892642|892643|892644|892645", + "upstreamId": "15836|15868|33882|49939|49941|49944|49947|49948|49949|49950|49951|49952|49953|49955|49959|49962|49964|49965|49966|49973|51408|51409|51412|51413|51414|51415|51417|51419|51420|93507|94143|94147|94148|94151|94152|94153|94154|98256|98259|98260|132745|132752|136436|136453|136485|136497|136511|137256|137261|137263|137269|139395|139396|139402|139406|139416|139418|139421|139425|139428|139432|139436|140110|140111|140113|140114|150882|151150|151332|151402|151657|151915|180171|180193|180207|180217|180234|182352|182353|182357|182359|182384|182386|182402|182416|182427|182443|182478|182480|182483|182484|186026|212392|212412|212422|221524|221552|233003|233121|233137|233142|233144|233148|233221|233225|239530|239538|239602|294905|294906|294910|294911|294920|294922|294923|294924|294929|294934|294938|294939|294947|294949|294950|296697|296698|296702|296704|296707|296708|296709|296713|296715|296716|296717|300409|300412|300416|300417|300418|300419|300422|300423|300425|300427|300428|300432|300433|300439|300441|300442|300446|300447|300453|300456|300464|300465|300468|358771|367774|367807|369246|394830|394952|454083|454198|454355|454463|454532|473948|483756|483852|484002|520880|617228|632658|764683|807810|807929|808106|892631|892632|892633|892634|892635|892636|892637|892638|892639|892640|892641|892642|892643|892644|892645", "text": "APC-Associated Polyposis Disorders" }, { - "baseId": "15836|27632|139810|152315|227671|552359|581788|612029|612031", + "upstreamId": "15836|27632|139810|152315|227671|552359|581788|612029|612031", "text": "Pilocytic astrocytoma" }, { - "baseId": "15837|15846|15849|15850|15861|20630|21703|28794|49960|133499|139407|139421|152171|180205|182399|226318|226319|226320|226321|226322|226372|419003", + "upstreamId": "15837|15846|15849|15850|15861|20630|21703|28794|49960|133499|139407|139421|152171|180205|182399|226318|226319|226320|226321|226322|226372|419003", "text": "Colorectal cancer, susceptibility to" }, { - "baseId": "15837|15838|15845|15846|15847|15849|15850|15851|15855|15860|15861|15863|15870|15874|33882|49939|49941|49944|49948|49949|49950|49953|49960|49963|49966|50194|50206|51410|51411|51418|51421|93766|94472|94473|98253|98257|132732|132738|132752|132759|132763|132769|136511|137244|137257|137263|139402|139406|139421|139438|140111|150577|150666|151082|151229|152288|173540|173984|180167|182313|182336|182339|182342|182368|191748|212389|212414|214662|214664|214670|214682|214693|215306|226318|232984|233042|233044|233046|233052|233062|233075|233127|233133|233209|239546|239564|244421|244422|244423|244434|246969|394347|394577|394685|394723|406490|406515|406522|419614|419619|419639|421027|421030|427229|427230|427231|427232|427233|427234|427235|427236|427237|427238|427239|427240|427241|427243|427244|427246|427247|427248|427249|427250|427251|427252|427253|427254|427255|427256|427257|427258|427261|427263|427264|427265|427267|427268|427269|427270|427272|427273|427274|427275|427276|427277|427279|427280|427281|427282|427283|427284|427285|427286|427287|427288|427289|427290|427291|427292|427293|427294|427296|427297|427298|427299|427300|427301|427302|427303|427304|427305|427306|427307|427308|427309|427310|427315|427579|427580|427581|427582|427583|427584|427585|432595|443651|454626|487023|487116|487132|487134|487141|496347|496412|496797|520782|537761|550680|612087|621183|621184|621189|621734|808073|905908|916935|916938|920491|983955", + "upstreamId": "15837|15838|15845|15846|15847|15849|15850|15851|15855|15860|15861|15863|15870|15874|33882|49939|49941|49944|49948|49949|49950|49953|49960|49963|49966|50194|50206|51410|51411|51418|51421|93766|94472|94473|98253|98257|132732|132738|132752|132759|132763|132769|136511|137244|137257|137263|139402|139406|139421|139438|140111|150577|150666|151082|151229|152288|173540|173984|180167|182313|182336|182339|182342|182368|191748|212389|212414|214662|214664|214670|214682|214693|215306|226318|232984|233042|233044|233046|233052|233062|233075|233127|233133|233209|239546|239564|244421|244422|244423|244434|246969|394347|394577|394685|394723|406490|406515|406522|419614|419619|419639|421027|421030|427229|427230|427231|427232|427233|427234|427235|427236|427237|427238|427239|427240|427241|427243|427244|427246|427247|427248|427249|427250|427251|427252|427253|427254|427255|427256|427257|427258|427261|427263|427264|427265|427267|427268|427269|427270|427272|427273|427274|427275|427276|427277|427279|427280|427281|427282|427283|427284|427285|427286|427287|427288|427289|427290|427291|427292|427293|427294|427296|427297|427298|427299|427300|427301|427302|427303|427304|427305|427306|427307|427308|427309|427310|427315|427579|427580|427581|427582|427583|427584|427585|432595|443651|454626|487023|487116|487132|487134|487141|496347|496412|496797|520782|537761|550680|612087|621183|621184|621189|621734|808073|905908|916935|916938|920491|983955", "text": "Familial multiple polyposis syndrome" }, { - "baseId": "15840|15846|15849|15855|15861|16794|18408|18409|20332|20333|20507|20596|20678|20738|20918|20919|21298|21797|21798|21919|21920|23171|23172|23173|23174|23728|23729|24487|24550|24551|24767|28691|28694|28695|28696|28938|29000|29001|29002|29003|29005|29022|29241|29242|31303|31390|31391|32113|32615|32616|38609|49949|49951|49969|50192|50193|50195|50206|51408|51418|95724|96145|98259|132745|132769|133170|133288|133302|133516|137257|137506|137516|137518|138162|138599|139421|150666|150996|151049|151150|151332|151404|152318|152717|166273|166274|171787|171788|171789|171790|171791|171792|171793|171794|171795|180708|180735|180975|181542|182313|182336|182409|182441|184222|184243|184276|186210|200719|200720|200721|200722|200723|200724|200725|200726|200727|200728|200729|200730|200731|200732|200733|200734|200735|200736|200737|200738|200739|200740|200741|200742|200743|200744|200745|200746|200747|200748|200749|200750|200751|200752|200753|212406|212460|213168|214682|222460|222482|223358|223359|223360|223361|223362|227197|233008|233031|233058|235168|235189|235483|242041|242900|242906|247653|248647|248648|248649|251904|256353|327448|347927|363531|394231|394291|400896|401063|402341|402370|402900|402952|402990|403007|409552|453710|453897|454168|454210|454483|454885|467237|467353|473827|473865|477616|477736|517748|528761|529267|530769|531657|534326|536301|550675|550682|550685|790548|818468|818554|818555|818566", + "upstreamId": 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"text": "Carcinoma of colon" }, { - "baseId": 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"text": "Neoplasm of the large intestine" }, { - "baseId": "15841|15842|15846|15849|18559|20332|20333|20333|20337|20338|22613|22805|22807|27285|27621|27623|28329|28691|28694|28697|28918|29759|49949|49951|49969|50193|50226|51408|51418|98259|132769|133281|133297|133302|133303|138598|139421|139695|150591|150666|150996|151150|151332|151404|152450|179930|181678|182313|182336|182409|182441|184387|212406|212460|214646|214682|232272|233008|233031|233058|362773|363046|363100|363113|363116|394231|404747|453710|453897|454168|454210|454483|454883|454885|473865|536301|538960|550667|550673|578398|614238|918038", + "upstreamId": "15841|15842|15846|15849|18559|20332|20333|20333|20337|20338|22613|22805|22807|27285|27621|27623|28329|28691|28694|28697|28918|29759|49949|49951|49969|50193|50226|51408|51418|98259|132769|133281|133297|133302|133303|138598|139421|139695|150591|150666|150996|151150|151332|151404|152450|179930|181678|182313|182336|182409|182441|184387|212406|212460|214646|214682|232272|233008|233031|233058|362773|363046|363100|363113|363116|394231|404747|453710|453897|454168|454210|454483|454883|454885|473865|536301|538960|550667|550673|578398|614238|918038", "text": "Neoplasm of stomach" }, { - "baseId": "15845|15853", + "upstreamId": "15845|15853", "text": "Brain tumor-polyposis syndrome 2" }, { - "baseId": 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+ "upstreamId": 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"text": "Hepatocellular carcinoma" }, { - "baseId": "15846|15849|15857|15872|15876|49948|49949|49951|49969|51408|51418|98259|132769|139421|150666|151150|151332|151404|182313|182336|182409|182441|212406|212460|214682|221526|233008|233031|233058|394231|453710|453897|454168|454210|454483|454885|473865|536301", + "upstreamId": "15846|15849|15857|15872|15876|49948|49949|49951|49969|51408|51418|98259|132769|139421|150666|151150|151332|151404|182313|182336|182409|182441|212406|212460|214682|221526|233008|233031|233058|394231|453710|453897|454168|454210|454483|454885|473865|536301", "text": "Desmoid disease, hereditary" }, { - "baseId": "15850|15851", + "upstreamId": "15850|15851", "text": "Periampullary adenoma" }, { - "baseId": "15855", + "upstreamId": "15855", "text": "Adenomatous polyposis coli with congenital cholesteatoma" }, { - "baseId": "15855|27395|182336|358777|363372|486821|486822", + "upstreamId": "15855|27395|182336|358777|363372|486821|486822", "text": "Malignant Colorectal Neoplasm" }, { - "baseId": "15855|360864", + "upstreamId": "15855|360864", "text": "Adenomatous colonic polyposis" }, { - "baseId": "15855", + "upstreamId": "15855", "text": "Hyperplastic colonic polyposis" }, { - "baseId": "15855", + "upstreamId": "15855", "text": "Intestinal polyp" }, { - "baseId": "15855", + "upstreamId": "15855", "text": "Duodenal polyposis" }, { - "baseId": "15855", + "upstreamId": "15855", "text": "Gastric polyposis" }, { - "baseId": "15855|21230|137262|550681|550732", + "upstreamId": "15855|21230|137262|550681|550732", "text": "Colon adenocarcinoma" }, { - "baseId": "15855|15861|20642|27403|27404|27413|29000|46603|52759|94753|94755|94763|95045|96129|99638|99640|99642|99647|99648|101927|102771|132759|132775|133391|133398|133400|133418|133517|137774|137778|137779|137780|137782|137785|137788|137795|137796|137804|140050|150735|169823|169825|169826|169830|169831|169834|169835|169836|171100|180211|182432|185986|191007|191199|192635|193836|193839|195293|208797|208799|215445|222238|226351|227849|227854|236490|236689|241293|241375|243458|247757|265631|271024|338245|338250|338256|338271|338276|347905|347913|347955|351664|351674|351691|351692|352602|362739|362743|362744|362745|362746|363512|379858|400244|406503|431929|438546|473598|488136|488148|492538|493637|493638|513785|514281|534478|534841|572013|572016|572017|572022|573419|574141|574142|574143|590606|590610|649528|649529|649530|653288|705951|705953|705956|717474|729208|729209|729218|731426|731427|742927|742935|742936|773567|773568|773569|778625|807908|821465|821466|849375|849376|849377|849378|917838|929496|941282|959101|960349|964238|964656|973094|980453", + "upstreamId": "15855|15861|20642|27403|27404|27413|29000|46603|52759|94753|94755|94763|95045|96129|99638|99640|99642|99647|99648|101927|102771|132759|132775|133391|133398|133400|133418|133517|137774|137778|137779|137780|137782|137785|137788|137795|137796|137804|140050|150735|169823|169825|169826|169830|169831|169834|169835|169836|171100|180211|182432|185986|191007|191199|192635|193836|193839|195293|208797|208799|215445|222238|226351|227849|227854|236490|236689|241293|241375|243458|247757|265631|271024|338245|338250|338256|338271|338276|347905|347913|347955|351664|351674|351691|351692|352602|362739|362743|362744|362745|362746|363512|379858|400244|406503|431929|438546|473598|488136|488148|492538|493637|493638|513785|514281|534478|534841|572013|572016|572017|572022|573419|574141|574142|574143|590606|590610|649528|649529|649530|653288|705951|705953|705956|717474|729208|729209|729218|731426|731427|742927|742935|742936|773567|773568|773569|778625|807908|821465|821466|849375|849376|849377|849378|917838|929496|941282|959101|960349|964238|964656|973094|980453", "text": "Colorectal cancer" }, { - "baseId": "15856|27398|32619|32620|32621|139537|181051|432378|432388|432391", + "upstreamId": "15856|27398|32619|32620|32621|139537|181051|432378|432388|432391", "text": "Hepatoblastoma" }, { - "baseId": "15861", + "upstreamId": "15861", "text": "Adenomatous polyposis coli, susceptibility to" }, { - "baseId": "15861|16284|16285|16821|18062|18072|18087|20630|20630|20640|20642|23084|23984|28432|66873|132093|132119|132156|132221|132225|132267|132794|132798|132871|133499|133528|133532|133585|137376|151098|151118|151260|151270|151274|152066|152122|180433|180519|183348|183467|183471|213319|234712|240887|244622|246794|389282|397887|476493|480186|485382|535740|535741|535742|535743|535744|535745|535746|535747|535748|535749|535750|535751|564370|569950|810246|849160|967155|967208", + "upstreamId": "15861|16284|16285|16821|18062|18072|18087|20630|20630|20640|20642|23084|23984|28432|66873|132093|132119|132156|132221|132225|132267|132794|132798|132871|133499|133528|133532|133585|137376|151098|151118|151260|151270|151274|152066|152122|180433|180519|183348|183467|183471|213319|234712|240887|244622|246794|389282|397887|476493|480186|485382|535740|535741|535742|535743|535744|535745|535746|535747|535748|535749|535750|535751|564370|569950|810246|849160|967155|967208", "text": "Breast cancer, susceptibility to" }, { - "baseId": "15877|32619", + "upstreamId": "15877|32619", "text": "Desmoid tumor, somatic" }, { - "baseId": "15882|45589|45675|45676|45677|45678|45679|134815|134816|134817|141757|141758|141759|141760|192578|202127|202128|202130|202131|202132|202133|202134|202135|202136|202138|202140|203288|269762|303275|303276|303285|303286|303287|303293|303294|303295|303297|303299|303300|303305|303314|306614|306615|306616|306617|306619|306621|306623|306626|306628|306630|306636|306658|306670|311499|311500|311502|311507|311518|311520|311524|311531|311538|311539|311543|311545|311546|311547|311548|311551|311654|311664|311667|311674|311678|311686|311687|311688|311690|311712|311714|311715|369920|407243|456487|456846|456878|456883|457379|457381|457387|457540|457541|457542|457548|457909|493738|511718|522787|522788|523043|523235|539008|539415|549633|550302|552118|561099|561729|561732|564397|566143|567108|579491|636313|636314|636315|636316|636317|651687|651762|655800|683925|766357|766358|788819|819912|833808|833809|833810|833811|833812|833813|833814|898315|898316|898317|898318|898319|898320|898321|898322|898323|898324|898325|898326|898327|898328|898329|898330|898331|898332|898333|898334|898335|898336|898337|898338|898339|898340|898341|898342|924900|933979|933980|933981|933982|933983|933984|933985|945750|945751|955207|955208|955209", + "upstreamId": "15882|45589|45675|45676|45677|45678|45679|134815|134816|134817|141757|141758|141759|141760|192578|202127|202128|202130|202131|202132|202133|202134|202135|202136|202138|202140|203288|269762|303275|303276|303285|303286|303287|303293|303294|303295|303297|303299|303300|303305|303314|306614|306615|306616|306617|306619|306621|306623|306626|306628|306630|306636|306658|306670|311499|311500|311502|311507|311518|311520|311524|311531|311538|311539|311543|311545|311546|311547|311548|311551|311654|311664|311667|311674|311678|311686|311687|311688|311690|311712|311714|311715|369920|407243|456487|456846|456878|456883|457379|457381|457387|457540|457541|457542|457548|457909|493738|511718|522787|522788|523043|523235|539008|539415|549633|550302|552118|561099|561729|561732|564397|566143|567108|579491|636313|636314|636315|636316|636317|651687|651762|655800|683925|766357|766358|788819|819912|833808|833809|833810|833811|833812|833813|833814|898315|898316|898317|898318|898319|898320|898321|898322|898323|898324|898325|898326|898327|898328|898329|898330|898331|898332|898333|898334|898335|898336|898337|898338|898339|898340|898341|898342|924900|933979|933980|933981|933982|933983|933984|933985|945750|945751|955207|955208|955209", "text": "Epilepsy, progressive myoclonic 3" }, { - "baseId": "15883|15884|34346|34347|34348|34349|34350|34351|34352|34353|34354|48051|48052|89775|101414|101415|101416|101417|101419|101420|101421|101422|101423|101424|177270|191248|207942|236963|268636|268988|316277|316279|316282|316283|316289|316290|316293|316294|316296|316304|316306|316307|323630|323632|323637|323661|323662|323664|323665|323681|323683|323685|323690|323692|323693|323694|323702|323703|323721|323722|323726|323736|329778|329780|329783|329788|329789|329790|329794|329803|329806|329807|329810|329820|329837|329841|329843|329849|329854|329858|331046|331050|331050|331051|331071|331071|331072|331073|331076|331083|331085|331086|331087|331090|331091|331099|331103|331104|331106|371882|372614|372875|374645|374645|413355|444943|489736|526714|584648|656109|666582|802179|859948|869480|869481|869482|869483|869484|869485|869486|869487|869488|869489|869490|869491|869492|869493|869494|869495|869496|869497|869498|869499|869500|869501|869502|869503|869504|869505|869506|869507|869508|869509|869510|869511|869512|869513|869514|869515|869516|869517|869518|869519|869520|869521|869522|869523|869524|872205|872206|872207|983763|983767", + "upstreamId": "15883|15884|34346|34347|34348|34349|34350|34351|34352|34353|34354|48051|48052|89775|101414|101415|101416|101417|101419|101420|101421|101422|101423|101424|177270|191248|207942|236963|268636|268988|316277|316279|316282|316283|316289|316290|316293|316294|316296|316304|316306|316307|323630|323632|323637|323661|323662|323664|323665|323681|323683|323685|323690|323692|323693|323694|323702|323703|323721|323722|323726|323736|329778|329780|329783|329788|329789|329790|329794|329803|329806|329807|329810|329820|329837|329841|329843|329849|329854|329858|331046|331050|331050|331051|331071|331071|331072|331073|331076|331083|331085|331086|331087|331090|331091|331099|331103|331104|331106|371882|372614|372875|374645|374645|413355|444943|489736|526714|584648|656109|666582|802179|859948|869480|869481|869482|869483|869484|869485|869486|869487|869488|869489|869490|869491|869492|869493|869494|869495|869496|869497|869498|869499|869500|869501|869502|869503|869504|869505|869506|869507|869508|869509|869510|869511|869512|869513|869514|869515|869516|869517|869518|869519|869520|869521|869522|869523|869524|872205|872206|872207|983763|983767", "text": "Cutis laxa with osteodystrophy" }, { - "baseId": "15886|15887|49799|82782|136092|136093|267743|322502|322506|322514|322515|322522|322526|322528|322529|322530|322532|322535|331887|331888|331893|331896|331899|331902|338880|338881|338890|338891|338892|338895|338896|338901|338905|338907|338909|338914|338921|340507|340510|340512|340513|340514|340516|340517|340525|340526|340527|340529|340532|340533|340536|413400|577384|622427|754446|793528|793534|873499|873500|873501|873502|873503|873504|873505|873506|873507|873508|873509|873510|873511|873512|873513|873514|873515|873516|873517|873518|873519|873520|873521|873522|873523|873524|873525|971016", + "upstreamId": "15886|15887|49799|82782|136092|136093|267743|322502|322506|322514|322515|322522|322526|322528|322529|322530|322532|322535|331887|331888|331893|331896|331899|331902|338880|338881|338890|338891|338892|338895|338896|338901|338905|338907|338909|338914|338921|340507|340510|340512|340513|340514|340516|340517|340525|340526|340527|340529|340532|340533|340536|413400|577384|622427|754446|793528|793534|873499|873500|873501|873502|873503|873504|873505|873506|873507|873508|873509|873510|873511|873512|873513|873514|873515|873516|873517|873518|873519|873520|873521|873522|873523|873524|873525|971016", "text": "Spinocerebellar ataxia type 11" }, { - "baseId": "15888|26968|26968|26969|26970|26971|26972|26973|48323|48325|48326|48327|48328|48329|94405|103452|103456|103461|103463|103464|103466|103470|103473|103478|103487|103491|103493|103512|103523|103524|103526|135085|142016|142017|190748|214395|214396|231816|231819|231821|244709|244711|244712|323152|329248|330408|444905|462167|526895|527212|537210|565034|566309|571185|571186|571187|624452|640599|640600|640601|640602|640603|640604|640605|652649|775896|779494|784267|799664|839260|839261|839262|839263|839264|839265|839266|839267|839268|839269|935901|935902|935903|935904|935905|940240|940241|941020|947775|956742|956743|960021|960772", + "upstreamId": "15888|26968|26968|26969|26970|26971|26972|26973|48323|48325|48326|48327|48328|48329|94405|103452|103456|103461|103463|103464|103466|103470|103473|103478|103487|103491|103493|103512|103523|103524|103526|135085|142016|142017|190748|214395|214396|231816|231819|231821|244709|244711|244712|323152|329248|330408|444905|462167|526895|527212|537210|565034|566309|571185|571186|571187|624452|640599|640600|640601|640602|640603|640604|640605|652649|775896|779494|784267|799664|839260|839261|839262|839263|839264|839265|839266|839267|839268|839269|935901|935902|935903|935904|935905|940240|940241|941020|947775|956742|956743|960021|960772", "text": "Porokeratosis 3, disseminated superficial actinic type" }, { - "baseId": "15889|15890|15891|15892|15893|15894|34595|34596|34597|39879|39880|39881|39882|76657|76658|76660|76661|190644|190645|247131|272298|327762|327766|327772|327778|327785|327786|327790|327796|327797|327801|327805|327810|327813|327814|327816|327820|327822|327824|327825|327827|327828|327841|327843|327846|337587|337589|337592|337595|337598|337601|337603|337608|337615|337619|337622|337624|337630|337631|337633|337648|337649|337652|337653|337660|337665|343820|343821|343823|343827|343828|343829|343830|343832|343835|343839|343844|343853|343859|343861|343862|343873|343875|343878|343879|345313|345316|345318|345319|345325|345328|345329|345330|345332|345333|345335|345336|345339|345341|505819|704047|727078|877022|877023|877024|877025|877026|877027|877028|877029|877030|877031|877032|877033|877034|877035|877036|877037|877038|877039|877040|877041|877042|877043|877044|877045|877046|877047|877048|877049|877050|877051|877052|877053|877054|877055|877056|877057|877058|877059|877060|877061|877062|877063|877064|877065", + "upstreamId": "15889|15890|15891|15892|15893|15894|34595|34596|34597|39879|39880|39881|39882|76657|76658|76660|76661|190644|190645|247131|272298|327762|327766|327772|327778|327785|327786|327790|327796|327797|327801|327805|327810|327813|327814|327816|327820|327822|327824|327825|327827|327828|327841|327843|327846|337587|337589|337592|337595|337598|337601|337603|337608|337615|337619|337622|337624|337630|337631|337633|337648|337649|337652|337653|337660|337665|343820|343821|343823|343827|343828|343829|343830|343832|343835|343839|343844|343853|343859|343861|343862|343873|343875|343878|343879|345313|345316|345318|345319|345325|345328|345329|345330|345332|345333|345335|345336|345339|345341|505819|704047|727078|877022|877023|877024|877025|877026|877027|877028|877029|877030|877031|877032|877033|877034|877035|877036|877037|877038|877039|877040|877041|877042|877043|877044|877045|877046|877047|877048|877049|877050|877051|877052|877053|877054|877055|877056|877057|877058|877059|877060|877061|877062|877063|877064|877065", "text": "Congenital defect of folate absorption" }, { - "baseId": "15895|15896|15897|15898|15899|15900|15901|15902|15903|49835|275884|275890|275891|275892|275893|275896|275898|275899|275901|275905|275907|275908|275911|275914|275915|275917|275919|275920|275922|275968|275975|275976|275980|275981|275986|275987|276000|276001|276003|276007|276008|276012|276013|276070|276071|276072|276073|276075|276078|276079|276085|276089|276176|276177|276178|276192|276196|276197|276203|276209|276214|276215|276226|276227|276228|276229|276273|353030|353031|861934|861935|861936|861937|861938|861939|861940|861941|861942|861943|861944|861945|861946|861947|861948|861949|861950|861951|861952|861953|861954|861955|861956|861957|861958|861959|861960", + "upstreamId": "15895|15896|15897|15898|15899|15900|15901|15902|15903|49835|275884|275890|275891|275892|275893|275896|275898|275899|275901|275905|275907|275908|275911|275914|275915|275917|275919|275920|275922|275968|275975|275976|275980|275981|275986|275987|276000|276001|276003|276007|276008|276012|276013|276070|276071|276072|276073|276075|276078|276079|276085|276089|276176|276177|276178|276192|276196|276197|276203|276209|276214|276215|276226|276227|276228|276229|276273|353030|353031|861934|861935|861936|861937|861938|861939|861940|861941|861942|861943|861944|861945|861946|861947|861948|861949|861950|861951|861952|861953|861954|861955|861956|861957|861958|861959|861960", "text": "Schnyder crystalline corneal dystrophy" }, { - "baseId": "15904|15905", + "upstreamId": "15904|15905", "text": "Deafness, autosomal dominant 50" }, { - "baseId": "15906|15907|15908|15909|15910|15911|141066|141067|141068|141069|141070|211413|211414|211415|211416|211417|211419|211421|211422|211423|253586|253587|253589|253590|253591|253593|308912|308915|308916|313608|313612|313614|313627|313628|319391|319403|319406|319407|319413|319419|319979|353860|370474|370993|371354|390671|390675|390676|407727|434633|502686|502688|525246|539024|539025|553126|553127|553128|553129|553130|553131|563329|565996|611364|638429|820170|836328|836329|836330|902513|902514|902515|902516|902517|902518|902519|902520|902521|902522|902523|902524|902525|902526|903444|904215|946689", + "upstreamId": "15906|15907|15908|15909|15910|15911|141066|141067|141068|141069|141070|211413|211414|211415|211416|211417|211419|211421|211422|211423|253586|253587|253589|253590|253591|253593|308912|308915|308916|313608|313612|313614|313627|313628|319391|319403|319406|319407|319413|319419|319979|353860|370474|370993|371354|390671|390675|390676|407727|434633|502686|502688|525246|539024|539025|553126|553127|553128|553129|553130|553131|563329|565996|611364|638429|820170|836328|836329|836330|902513|902514|902515|902516|902517|902518|902519|902520|902521|902522|902523|902524|902525|902526|903444|904215|946689", "text": "Fructose-biphosphatase deficiency" }, { - "baseId": "15912|15914|75258|75259|75260|75261|226073|226074|226075|226076|226077|226078|672264|816437|818164", + "upstreamId": "15912|15914|75258|75259|75260|75261|226073|226074|226075|226076|226077|226078|672264|816437|818164", "text": "Congenital anomalies of kidney and urinary tract 1, susceptibility to" }, { - "baseId": 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+ "upstreamId": 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"text": "Renal hypodysplasia/aplasia 1" }, { - "baseId": "15915", + "upstreamId": "15915", "text": "Malaria, mild, susceptibility to" }, { - "baseId": "15916", + "upstreamId": "15916", "text": "Mucopolysaccharidosis, type vi, intermediate" }, { - "baseId": 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+ "upstreamId": 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"text": "Mucopolysaccharidosis type 6" }, { - "baseId": "15917|15919|15920|15921|15922", + "upstreamId": "15917|15919|15920|15921|15922", "text": "Mucopolysaccharidosis, type vi, severe" }, { - "baseId": "15918", + "upstreamId": "15918", "text": "Mucopolysaccharidosis, type vi, mild" }, { - "baseId": 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+ "upstreamId": 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"text": "Metachromatic leukodystrophy" }, { - "baseId": "15928", + "upstreamId": "15928", "text": "Autoimmune disease 1" }, { - "baseId": "15929", + "upstreamId": "15929", "text": "Bowen-Conradi syndrome" }, { - "baseId": "15930|39868|39869|135540|135541|135542|135543|135544|135545|135546|142594|142596|142599|142600|142601|192515|204466|207424|207425|211264|211266|211269|211274|211277|211280|211281|211282|211285|211288|211289|211292|226903|227304|273972|301222|301228|301229|304366|304374|308982|308999|309010|309012|309107|309108|368781|428634|481453|481454|511690|513424|539005|552109|621024|621039|692076|692077|735809|750271|759506|759674|765901|765903|765907|782686|790665|790666|790667|857620|857621|897008|900277|920230|963143|964915|965415|978366|978367|978368|978369|978370", + "upstreamId": "15930|39868|39869|135540|135541|135542|135543|135544|135545|135546|142594|142596|142599|142600|142601|192515|204466|207424|207425|211264|211266|211269|211274|211277|211280|211281|211282|211285|211288|211289|211292|226903|227304|273972|301222|301228|301229|304366|304374|308982|308999|309010|309012|309107|309108|368781|428634|481453|481454|511690|513424|539005|552109|621024|621039|692076|692077|735809|750271|759506|759674|765901|765903|765907|782686|790665|790666|790667|857620|857621|897008|900277|920230|963143|964915|965415|978366|978367|978368|978369|978370", "text": "Pontocerebellar hypoplasia type 6" }, { - "baseId": "15931|166015|626087", + "upstreamId": "15931|166015|626087", "text": "Wolfram syndrome 2" }, { - "baseId": 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"15933|15947|188270|188271|188272|188273|188275|188276|188277|188278|188279|188280|188281|188282|188283|188284|215038|215039", "text": "Non-immune hydrops fetalis" }, { - "baseId": "15948|15949|15950|15951|48159|256828|265057|332773|332775|332780|332782|342930|342936|342937|342941|342942|342948|348272|348275|348279|348280|348282|348284|348286|348297|348298|348301|348307|348308|349474|349477|349479|349482|349485|349489|349491|349494|349497|349498|349501|349505|349507|349508|377333|410546|413500|426292|438096|506582|551357|551358|551359|551360|551361|551362|551363|551364|551365|551366|551367|551368|551369|551370|551371|551372|551373|551374|551375|551376|551377|551378|551379|551380|551381|551382|551383|551384|551385|551386|551387|551388|551389|620905|622257|622258|622259|622266|716243|727984|741667|880068|880069|880070|880071|880072|880073|880074|880075|880076|880077|880078|880079|880080|880081|880082|880083|880084|880085|880086|880709", + "upstreamId": 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"15952|15955|15956|15958|15959|195548|253178|273146|305944|305945|305948|305949|305951|309985|309988|309990|315288|315289|315364|315382|315383|315386|315388|353844|513295|620305|620306|792774|900087|900088|900089|900090|900091|900092|900093|900094|900095|962051", + "upstreamId": "15952|15955|15956|15958|15959|195548|253178|273146|305944|305945|305948|305949|305951|309985|309988|309990|315288|315289|315364|315382|315383|315386|315388|353844|513295|620305|620306|792774|900087|900088|900089|900090|900091|900092|900093|900094|900095|962051", "text": "Osteopetrosis with renal tubular acidosis" }, { - "baseId": 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+ "upstreamId": "15960|75280|94455|101793|101795|101797|141875|141877|141878|141880|141881|176935|177066|177330|177820|181488|181489|181490|190890|191074|191075|195389|196050|196051|196305|196306|196307|196308|196309|196310|196312|201187|201189|201190|201191|201192|201193|201194|201198|201199|201200|201201|201203|201204|201208|201209|201211|201212|201213|201215|201221|201222|201223|201225|201226|201227|201228|201231|201234|201236|201237|201238|201239|201240|201241|201242|201243|201244|201247|206856|206858|206860|206862|238364|238365|250169|262998|264065|271793|281999|282022|282651|359289|365410|365417|365425|365585|365588|365606|365620|365623|365624|365639|365810|391365|391377|391378|391424|391430|391513|391514|391522|391608|405300|405301|425399|434570|440524|442929|442932|448574|448580|448583|448584|448731|448732|448740|448741|448745|448753|448762|448765|448808|448815|448819|498670|498896|498902|498934|516349|516351|516352|516362|516367|516384|516389|516439|516441|516447|516453|516455|516457|516461|516463|516464|516466|516469|516472|516474|516482|516484|539963|539964|551760|552052|557471|557528|557530|557532|557571|557573|557575|558731|558733|558735|558737|558739|558741|558743|559214|559216|559218|559220|559222|559224|559228|559230|578920|628462|628463|628464|628465|628466|628467|628468|628469|628470|628471|628472|628473|628474|628475|628476|628477|628478|628479|628480|628481|628482|628483|628484|628485|628486|628487|650826|683394|683396|685843|685844|685846|685849|690746|690747|746789|746791|762205|762206|774574|780840|790051|790052|790053|792909|794777|800682|801976|819048|819049|819050|821851|821852|821853|821854|821855|821856|821857|821858|821859|821860|821861|821862|821863|821864|821865|821866|821867|821868|821869|824780|824781|824782|824783|824784|824785|824786|824787|824788|824789|824790|824791|824792|824793|824794|824795|824796|824797|824798|824799|824800|824801|824802|824803|824804|824805|824806|824807|824808|824809|824810|824811|918672|918673|922248|922249|922250|922251|922252|922253|922254|922255|930808|930809|930810|930811|930812|930813|930814|930815|930816|930817|930818|930819|930820|942239|942240|942241|942242|942243|942244|942245|942246|942247|942248|942249|952634|952635|952636|952637|952638|962030|965922|970712", "text": "Mental retardation, autosomal dominant 1" }, { - "baseId": "15961", + "upstreamId": "15961", "text": "Autosomal recessive osteopetrosis 6" }, { - "baseId": "15962|15962|15963|15963|15964|15965|15966|15967|15968|15968|15971|15973|15974|15975|15977|15978|15979|15980|15981|15982|15983|15984|15984|15987|98800|98802|98803|98805|98807|98808|98813|98814|98817|98819|106590|106591|106592|191759|192236|198618|205010|205010|244010|244010|247388|251094|259759|259759|268409|404764|443416|488319|511481|513262|513535|519256|542920|542929|542931|542932|542934|542937|542939|542941|542944|542948|542958|542960|542962|542965|542967|542970|543091|543093|543095|543098|543109|543110|543114|543117|543122|543156|543170|543173|543181|543184|543185|543186|543188|543190|543192|543193|543194|543195|543198|543200|543202|543206|543207|543208|543214|543215|543217|543219|543220|543222|543223|543224|543226|543242|543243|553376|677122|788764|789350|806439|815872|861129|906152|971843|971844|971845|971846", + "upstreamId": "15962|15962|15963|15963|15964|15965|15966|15967|15968|15968|15971|15973|15974|15975|15977|15978|15979|15980|15981|15982|15983|15984|15984|15987|98800|98802|98803|98805|98807|98808|98813|98814|98817|98819|106590|106591|106592|191759|192236|198618|205010|205010|244010|244010|247388|251094|259759|259759|268409|404764|443416|488319|511481|513262|513535|519256|542920|542929|542931|542932|542934|542937|542939|542941|542944|542948|542958|542960|542962|542965|542967|542970|543091|543093|543095|543098|543109|543110|543114|543117|543122|543156|543170|543173|543181|543184|543185|543186|543188|543190|543192|543193|543194|543195|543198|543200|543202|543206|543207|543208|543214|543215|543217|543219|543220|543222|543223|543224|543226|543242|543243|553376|677122|788764|789350|806439|815872|861129|906152|971843|971844|971845|971846", "text": "Infantile GM1 gangliosidosis" }, { - "baseId": "15962|15963|15964|15965|15965|15968|15969|15974|15974|15977|15978|15979|15980|15981|15982|15984|15984|15987|98800|98802|98803|98805|98807|98808|98813|98814|98817|98819|192236|205010|244010|247388|251094|259759|268409|404764|443416|488319|511481|513535|519256|542920|542929|542931|542932|542934|542937|542939|542941|542944|542948|542958|542960|542962|542965|542967|542970|543091|543093|543095|543098|543109|543110|543114|543117|543122|543156|543170|543173|543181|543184|543185|543186|543188|543190|543192|543193|543194|543195|543198|543200|543202|543206|543207|543208|543214|543215|543217|543219|543220|543222|543223|543224|543226|543242|543243|553376|971843|971844|971845|971846", + "upstreamId": "15962|15963|15964|15965|15965|15968|15969|15974|15974|15977|15978|15979|15980|15981|15982|15984|15984|15987|98800|98802|98803|98805|98807|98808|98813|98814|98817|98819|192236|205010|244010|247388|251094|259759|268409|404764|443416|488319|511481|513535|519256|542920|542929|542931|542932|542934|542937|542939|542941|542944|542948|542958|542960|542962|542965|542967|542970|543091|543093|543095|543098|543109|543110|543114|543117|543122|543156|543170|543173|543181|543184|543185|543186|543188|543190|543192|543193|543194|543195|543198|543200|543202|543206|543207|543208|543214|543215|543217|543219|543220|543222|543223|543224|543226|543242|543243|553376|971843|971844|971845|971846", "text": "GM1 gangliosidosis type 3" }, { - "baseId": "15962|15962|15963|15963|15964|15964|15965|15967|15968|15970|15971|15971|15972|15974|15974|15975|15975|15976|15977|15977|15978|15978|15979|15979|15980|15980|15980|15981|15981|15981|15982|15982|15983|15984|15984|15984|15985|15985|15987|79371|98800|98801|98802|98802|98803|98804|98804|98805|98806|98806|98807|98808|98808|98809|98811|98812|98813|98813|98814|98814|98816|98817|98819|98821|134600|177750|177750|177751|191759|192236|195238|195238|198618|205010|205010|244010|247388|247388|251092|251094|251094|251095|251095|259759|259759|259759|268409|268409|268409|290008|290009|290015|290019|290020|290020|290021|290770|290771|290772|290774|290774|290776|290776|290779|290779|290780|293940|293941|293941|293942|293942|293948|294402|294405|294406|294409|294409|359418|359418|368399|368399|404764|404764|413623|414933|414933|443416|443416|488319|488319|511481|511481|513535|513535|519256|519256|542920|542929|542931|542932|542934|542934|542937|542937|542939|542941|542941|542944|542948|542958|542960|542962|542965|542967|542970|543091|543093|543095|543098|543109|543110|543114|543117|543117|543122|543156|543170|543173|543181|543184|543185|543186|543188|543190|543190|543192|543193|543194|543195|543198|543200|543202|543206|543207|543207|543207|543208|543214|543215|543215|543215|543217|543217|543219|543220|543222|543223|543223|543224|543226|543242|543243|549547|553376|553376|559427|559427|631173|631174|631175|631176|631177|631178|651170|672002|691372|691373|691375|691376|691377|695198|698038|698039|698039|698040|708787|708788|708788|734026|734026|734027|734029|763816|763818|763820|774802|777248|805341|819366|827900|827901|827902|827903|827904|827905|827906|888665|888666|888667|888668|888669|888670|888671|888672|888673|888674|888675|891635|891636|891637|923139|940747|940748|943476|943477|953435|953436|959694|975775", + "upstreamId": "15962|15962|15963|15963|15964|15964|15965|15967|15968|15970|15971|15971|15972|15974|15974|15975|15975|15976|15977|15977|15978|15978|15979|15979|15980|15980|15980|15981|15981|15981|15982|15982|15983|15984|15984|15984|15985|15985|15987|79371|98800|98801|98802|98802|98803|98804|98804|98805|98806|98806|98807|98808|98808|98809|98811|98812|98813|98813|98814|98814|98816|98817|98819|98821|134600|177750|177750|177751|191759|192236|195238|195238|198618|205010|205010|244010|247388|247388|251092|251094|251094|251095|251095|259759|259759|259759|268409|268409|268409|290008|290009|290015|290019|290020|290020|290021|290770|290771|290772|290774|290774|290776|290776|290779|290779|290780|293940|293941|293941|293942|293942|293948|294402|294405|294406|294409|294409|359418|359418|368399|368399|404764|404764|413623|414933|414933|443416|443416|488319|488319|511481|511481|513535|513535|519256|519256|542920|542929|542931|542932|542934|542934|542937|542937|542939|542941|542941|542944|542948|542958|542960|542962|542965|542967|542970|543091|543093|543095|543098|543109|543110|543114|543117|543117|543122|543156|543170|543173|543181|543184|543185|543186|543188|543190|543190|543192|543193|543194|543195|543198|543200|543202|543206|543207|543207|543207|543208|543214|543215|543215|543215|543217|543217|543219|543220|543222|543223|543223|543224|543226|543242|543243|549547|553376|553376|559427|559427|631173|631174|631175|631176|631177|631178|651170|672002|691372|691373|691375|691376|691377|695198|698038|698039|698039|698040|708787|708788|708788|734026|734026|734027|734029|763816|763818|763820|774802|777248|805341|819366|827900|827901|827902|827903|827904|827905|827906|888665|888666|888667|888668|888669|888670|888671|888672|888673|888674|888675|891635|891636|891637|923139|940747|940748|943476|943477|953435|953436|959694|975775", "text": "Mucopolysaccharidosis, MPS-IV-B" }, { - "baseId": "15962|15963|15964|15965|15968|15974|15974|15977|15978|15979|15980|15981|15982|15983|15984|15984|15987|77007|77008|79370|79371|79372|98800|98802|98803|98805|98807|98808|98813|98814|98817|98819|192236|195238|198618|205010|244010|247388|247388|251094|259759|268409|404764|443416|488319|488319|511481|513535|519256|542920|542929|542931|542932|542934|542937|542939|542941|542944|542948|542958|542960|542962|542965|542967|542970|543091|543093|543095|543098|543109|543110|543114|543117|543122|543156|543170|543173|543181|543184|543185|543186|543188|543188|543190|543192|543193|543193|543194|543195|543198|543200|543202|543206|543207|543208|543214|543215|543217|543219|543220|543222|543223|543223|543224|543226|543242|543243|553376|672002|672008|798530|971843|971844|971845|971846", + "upstreamId": "15962|15963|15964|15965|15968|15974|15974|15977|15978|15979|15980|15981|15982|15983|15984|15984|15987|77007|77008|79370|79371|79372|98800|98802|98803|98805|98807|98808|98813|98814|98817|98819|192236|195238|198618|205010|244010|247388|247388|251094|259759|268409|404764|443416|488319|488319|511481|513535|519256|542920|542929|542931|542932|542934|542937|542939|542941|542944|542948|542958|542960|542962|542965|542967|542970|543091|543093|543095|543098|543109|543110|543114|543117|543122|543156|543170|543173|543181|543184|543185|543186|543188|543188|543190|543192|543193|543193|543194|543195|543198|543200|543202|543206|543207|543208|543214|543215|543217|543219|543220|543222|543223|543223|543224|543226|543242|543243|553376|672002|672008|798530|971843|971844|971845|971846", "text": "GM1 gangliosidosis type 2" }, { - "baseId": "15962|15963|15963|15964|15964|15967|15971|15971|15974|15975|15978|15978|15980|15981|15983|15984|15984|15985|15985|79371|98801|98802|98804|98804|98806|98806|98808|98809|98811|98812|98813|98814|98814|98816|98817|98820|98821|134600|177750|177751|191759|192236|195238|195238|198618|198618|205010|247388|247388|251092|251094|251095|251095|259759|268409|290008|290009|290015|290017|290019|290020|290020|290021|290770|290771|290772|290774|290774|290775|290776|290776|290779|290779|290780|293940|293941|293941|293942|293942|293948|293951|294402|294405|294406|294409|294409|294412|359418|368399|404764|404764|413623|414933|443416|488319|511481|519256|542934|542937|542941|543117|543188|543190|543207|543207|543215|543215|543217|543223|549547|553376|553376|559427|631173|631174|631175|631175|631176|631177|631178|651170|672002|691372|691373|691375|691376|691377|695198|698038|698039|698039|698040|708787|708788|708788|734026|734026|734027|734029|763816|763818|763820|774802|777248|805341|805341|819366|827900|827901|827902|827903|827904|827904|827905|827906|888665|888666|888667|888668|888669|888670|888671|888672|888673|888674|888675|891635|891636|891637|905905|906358|906362|916909|923139|940747|940748|943476|943477|953435|953436|959694|961839|961840", + "upstreamId": "15962|15963|15963|15964|15964|15967|15971|15971|15974|15975|15978|15978|15980|15981|15983|15984|15984|15985|15985|79371|98801|98802|98804|98804|98806|98806|98808|98809|98811|98812|98813|98814|98814|98816|98817|98820|98821|134600|177750|177751|191759|192236|195238|195238|198618|198618|205010|247388|247388|251092|251094|251095|251095|259759|268409|290008|290009|290015|290017|290019|290020|290020|290021|290770|290771|290772|290774|290774|290775|290776|290776|290779|290779|290780|293940|293941|293941|293942|293942|293948|293951|294402|294405|294406|294409|294409|294412|359418|368399|404764|404764|413623|414933|443416|488319|511481|519256|542934|542937|542941|543117|543188|543190|543207|543207|543215|543215|543217|543223|549547|553376|553376|559427|631173|631174|631175|631175|631176|631177|631178|651170|672002|691372|691373|691375|691376|691377|695198|698038|698039|698039|698040|708787|708788|708788|734026|734026|734027|734029|763816|763818|763820|774802|777248|805341|805341|819366|827900|827901|827902|827903|827904|827904|827905|827906|888665|888666|888667|888668|888669|888670|888671|888672|888673|888674|888675|891635|891636|891637|905905|906358|906362|916909|923139|940747|940748|943476|943477|953435|953436|959694|961839|961840", "text": "GM1 gangliosidosis" }, { - "baseId": "15980|15984|15985|15986|15987", + "upstreamId": "15980|15984|15985|15986|15987", "text": "GM1-gangliosidosis, type I, with cardiac involvement" }, { - "baseId": 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+ "upstreamId": 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"text": "Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive" }, { - "baseId": "15991|15992|15993|15994|15994|15995|15995|15996|15997|15998|15999|16000|16000|16001|16002|16004|29346|39863|190736|190737|191147|191148|191149|191323|191755|192718|192804|192806|192886|195224|195572|195868|206562|206563|208145|208146|208170|208171|208172|208172|208173|208174|214462|242569|255132|255133|255134|255135|255137|255138|255140|255141|255142|255145|255147|255148|255150|255151|268271|322119|322129|322130|322133|331398|331399|331401|331412|331413|331415|331419|338295|338297|338302|338306|338311|338316|338319|340107|340111|340112|340113|340122|340128|343069|360967|401431|409200|422005|422134|424507|426088|429631|429631|429633|429634|429636|429637|429638|429639|429641|429642|445685|445685|467249|467261|491377|539156|539157|539158|576279|609224|609227|615958|615959|615960|615961|615962|615963|615967|615968|615969|620502|620503|620504|620505|622698|666810|703096|770064|791437|873122|873123|873124|873125|873126|873127|873128|873129|873130|873131|873132|873133|873134|873135|873136|873137|873138|873139|873140|873141|873142|873143|873144|873145|873146|873147|873148|873149|873150|873151|873152|873153|873154|876480|876481|876482|905055|961532|971588", + "upstreamId": "15991|15992|15993|15994|15994|15995|15995|15996|15997|15998|15999|16000|16000|16001|16002|16004|29346|39863|190736|190737|191147|191148|191149|191323|191755|192718|192804|192806|192886|195224|195572|195868|206562|206563|208145|208146|208170|208171|208172|208172|208173|208174|214462|242569|255132|255133|255134|255135|255137|255138|255140|255141|255142|255145|255147|255148|255150|255151|268271|322119|322129|322130|322133|331398|331399|331401|331412|331413|331415|331419|338295|338297|338302|338306|338311|338316|338319|340107|340111|340112|340113|340122|340128|343069|360967|401431|409200|422005|422134|424507|426088|429631|429631|429633|429634|429636|429637|429638|429639|429641|429642|445685|445685|467249|467261|491377|539156|539157|539158|576279|609224|609227|615958|615959|615960|615961|615962|615963|615967|615968|615969|620502|620503|620504|620505|622698|666810|703096|770064|791437|873122|873123|873124|873125|873126|873127|873128|873129|873130|873131|873132|873133|873134|873135|873136|873137|873138|873139|873140|873141|873142|873143|873144|873145|873146|873147|873148|873149|873150|873151|873152|873153|873154|876480|876481|876482|905055|961532|971588", "text": "Tyrosinase-positive oculocutaneous albinism" }, { - "baseId": "15991", + "upstreamId": "15991", "text": "Brown oculocutaneous albinism" }, { - "baseId": "15994|15995|15999|16000|16001|16002|19782|19783|19784|191148|208172|236894|374023|422005|429631|508884|578449|792795", + "upstreamId": "15994|15995|15999|16000|16001|16002|19782|19783|19784|191148|208172|236894|374023|422005|429631|508884|578449|792795", "text": "Skin/hair/eye pigmentation, variation in, 1" }, { - "baseId": "15995|18814|18831|18834|18835|32635|105416|105431|105472|208174|445285|494127|609202|609206|609207|609215|609216|609217|609218|609224|609225|609226|609227|609228|609229|609230|609264|609265|609266|609267|609268|609272", + "upstreamId": "15995|18814|18831|18834|18835|32635|105416|105431|105472|208174|445285|494127|609202|609206|609207|609215|609216|609217|609218|609224|609225|609226|609227|609228|609229|609230|609264|609265|609266|609267|609268|609272", "text": "Nonsyndromic Oculocutaneous Albinism" }, { - "baseId": "16005|16006|16007|16008|177112|177243|177374|301108|301118|301119|301123|301125|301126|301129|301130|301137|301139|301141|304121|304139|304140|304147|304156|304157|304165|304166|304167|304179|304183|304184|304185|304192|304219|304220|304221|308878|308882|308883|308884|308886|308889|308891|308894|308895|308896|308909|308913|308914|308917|308962|308964|308985|308998|309000|309002|309004|309006|309007|309008|361402|692066|692070|692071|699676|735779|735780|798916|799452|799453|799454|832577|896934|896935|896936|896937|896938|896939|896940|896941|896942|896943|896944|896945|896946|896947|896948|896949|896950|896951|896952|896953|896954|896955|896956|896957|896958|896959|896960|896961|896962|896963|896964|896965|896966|896967|896968|896969|896970|900274|900275|966586|966587|966588|966589|966590|966591|966592|966593|966594|966596", + "upstreamId": "16005|16006|16007|16008|177112|177243|177374|301108|301118|301119|301123|301125|301126|301129|301130|301137|301139|301141|304121|304139|304140|304147|304156|304157|304165|304166|304167|304179|304183|304184|304185|304192|304219|304220|304221|308878|308882|308883|308884|308886|308889|308891|308894|308895|308896|308909|308913|308914|308917|308962|308964|308985|308998|309000|309002|309004|309006|309007|309008|361402|692066|692070|692071|699676|735779|735780|798916|799452|799453|799454|832577|896934|896935|896936|896937|896938|896939|896940|896941|896942|896943|896944|896945|896946|896947|896948|896949|896950|896951|896952|896953|896954|896955|896956|896957|896958|896959|896960|896961|896962|896963|896964|896965|896966|896967|896968|896969|896970|900274|900275|966586|966587|966588|966589|966590|966591|966592|966593|966594|966596", "text": "Leber congenital amaurosis 5" }, { - "baseId": 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"text": "Leber congenital amaurosis" }, { - "baseId": "16009|399644|622414|919450|970128", + "upstreamId": "16009|399644|622414|919450|970128", "text": "Mental retardation, fra12a type" }, { - "baseId": 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+ "upstreamId": 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"text": "Fanconi anemia, complementation group I" }, { - "baseId": "16014|16015|16016|16017|550808", + "upstreamId": "16014|16015|16016|16017|550808", "text": "Macrocephaly, macrosomia, facial dysmorphism syndrome" }, { - "baseId": 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+ "upstreamId": "16016|23594|49251|50126|50180|57932|75743|75801|75812|75986|76035|76039|76077|76144|76148|76195|76217|76313|84057|187273|187274|201908|203104|205325|215524|223668|224835|224836|224837|224838|224839|224840|224841|224842|224843|224844|224845|224846|224847|224848|224849|224850|224851|237859|237860|237861|237862|237863|237864|237865|237866|237867|237868|237869|237870|237871|237872|237873|237874|237875|237876|237877|237878|237879|237880|237881|237882|237883|237884|237885|237886|237887|237888|237889|237890|237891|237892|237893|237894|237895|237896|237897|237898|237899|237900|237901|237902|237903|237904|237905|237906|237907|237908|237909|237910|237911|237912|237913|237914|237915|237916|237917|237918|237919|237920|237921|237922|237923|237924|237925|237926|237927|237928|237929|237930|237931|237932|237933|237934|237935|237936|237937|237938|237939|237940|237941|237942|237943|237944|237945|237946|237947|237948|237949|237950|237951|237952|237953|260052|260481|315038|315042|315044|315045|315046|315050|315052|315053|315055|315056|315058|315062|315064|321828|321829|321836|321839|321843|321845|321848|321849|321862|321863|321866|321875|321885|321887|322097|322099|322100|322104|322107|322110|322111|322112|322117|327887|327891|327899|327905|327907|327909|327912|327913|327927|327931|327932|327933|327938|329021|329022|329025|329026|329029|329030|329031|329032|329034|329047|329048|331378|331380|331385|331388|331389|331392|331397|338264|338269|338272|338275|338279|338287|338293|340099|340104|340105|340106|360623|363822|363839|363862|364197|374744|374752|374759|375632|375802|375813|377949|409073|421975|422128|429890|438585|438824|438884|439351|441932|441933|466891|481349|511323|512076|512868|530704|536165|551629|551630|551631|551632|551633|551634|551635|551636|551637|551638|551639|551640|551641|551642|551643|551644|551645|551646|551647|551648|551649|551650|551651|551652|551653|551654|551655|551656|551657|551658|551659|551660|551661|551662|551663|551664|551665|551666|551667|551668|551669|551670|551671|551672|551673|553316|553317|553318|553319|553320|553321|553322|553323|553324|553325|553327|553328|553329|553330|553331|553332|553333|553334|553335|553336|553337|553338|553339|553340|553341|553342|553343|553344|553345|553346|553347|553348|553349|553350|572553|576146|577575|577576|577577|577580|577582|577583|577586|577587|577588|577589|577591|577593|577595|577596|577597|577598|577599|577601|580045|580049|580050|580055|580058|580061|580074|580076|580078|580086|580094|580099|580100|580107|580110|580112|580113|580133|580134|580136|580139|580143|580144|580145|580147|580149|580150|580151|580152|580153|580155|580156|580159|580160|580161|580162|580164|580165|580167|580169|580170|580171|580173|580174|580178|580179|580181|580182|580183|580184|580186|580187|580189|580192|580193|580195|580196|580197|580200|580203|580205|580206|580208|580209|580211|580214|580216|580218|580219|580220|580221|580222|580225|580228|580232|580233|580234|580236|580237|580239|580245|580248|580250|580252|580254|580259|580263|580371|580373|580374|580376|580381|580384|580387|580389|580394|580396|580398|580400|580405|580410|580416|580421|580422|580427|580430|580442|580447|580450|580452|580454|580457|677425|789342|789343|916785|916786|916787|961471|961473|963961|966915|966946|966979|970334|970339|970343|977268|977269", "text": "Autism spectrum disorder" }, { - "baseId": "16018|16019|309611|309618|309623|314432|314435|314436|314437|320472|320473|320479|320480|320949|865515|865516|865517|865518|865519|865520|865521|865522", + "upstreamId": "16018|16019|309611|309618|309623|314432|314435|314436|314437|320472|320473|320479|320480|320949|865515|865516|865517|865518|865519|865520|865521|865522", "text": "Age-related macular degeneration 8" }, { - "baseId": "16020|16021|16022|16023|142223|142224|206941|236976|366373|427987|427989|450644|499998|517726|517836|559121|614243|629474|629475|629476|629477|629478|629479|691034|774672|781186|825751|825752|825753|825754|850841|850882|940694|942613|952944", + "upstreamId": "16020|16021|16022|16023|142223|142224|206941|236976|366373|427987|427989|450644|499998|517726|517836|559121|614243|629474|629475|629476|629477|629478|629479|691034|774672|781186|825751|825752|825753|825754|850841|850882|940694|942613|952944", "text": "Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation" }, { - "baseId": "16024", + "upstreamId": "16024", "text": "Severe combined immunodeficiency with sensitivity to ionizing radiation due to nhej1 deficiency" }, { - "baseId": "16025|16026|19566|19567|20132|20133|20134|20135|22892|23725|23745|23897|23898|23899|23900|23901|23902|23903|24144|24145|24252|27680|28829|29021|29739|29746|31120|31128|31172|31198|38715|38717|44278|44282|44864|44907|45009|45017|134590|139383|151135|151136|165951|167531|173819|173835|173968|186816|187111|195351|195994|200245|207853|207854|208598|211038|211039|211046|211053|211055|211058|227236|227344|229181|259865|293779|361179|389505|414921|428730|429186|429199|429208|430214|430215|430216|430217|432333|434047|434359|434360|434361|434638|437669|437670|437743|437744|437745|437746|437747|437748|437749|437750|437751|437752|437753|437754|437755|437756|437757|437758|437759|437760|437761|437762|437763|437764|437765|437766|437767|437768|437769|437770|437771|437772|437773|437774|437775|437776|437777|437778|437779|437780|437781|437782|437783|437784|437785|437786|437787|442293|443626|469804|470212|472261|487507|496327|512807|512808|513547|514235|546120|546326|576978|577852|623536|694415|695821|704986|716446|728184|790463|790464|790465|790466|790467|790468|792729|847677|847678|847679|903588|918899|918900|918901|920407|950783|958635|961285|970859", + "upstreamId": "16025|16026|19566|19567|20132|20133|20134|20135|22892|23725|23745|23897|23898|23899|23900|23901|23902|23903|24144|24145|24252|27680|28829|29021|29739|29746|31120|31128|31172|31198|38715|38717|44278|44282|44864|44907|45009|45017|134590|139383|151135|151136|165951|167531|173819|173835|173968|186816|187111|195351|195994|200245|207853|207854|208598|211038|211039|211046|211053|211055|211058|227236|227344|229181|259865|293779|361179|389505|414921|428730|429186|429199|429208|430214|430215|430216|430217|432333|434047|434359|434360|434361|434638|437669|437670|437743|437744|437745|437746|437747|437748|437749|437750|437751|437752|437753|437754|437755|437756|437757|437758|437759|437760|437761|437762|437763|437764|437765|437766|437767|437768|437769|437770|437771|437772|437773|437774|437775|437776|437777|437778|437779|437780|437781|437782|437783|437784|437785|437786|437787|442293|443626|469804|470212|472261|487507|496327|512807|512808|513547|514235|546120|546326|576978|577852|623536|694415|695821|704986|716446|728184|790463|790464|790465|790466|790467|790468|792729|847677|847678|847679|903588|918899|918900|918901|920407|950783|958635|961285|970859", "text": "Type 2 diabetes mellitus" }, { - "baseId": "16027|33448|33449|33450|33451|143071|143072|200016|200020|200021|200025|200027|207028|287320|287322|287323|287327|287329|288040|288052|288067|288073|288079|288085|290733|290734|290735|290736|290751|290752|290971|290990|290991|290992|290993|290994|291008|367037|433946|518644|518832|552067|552068|558686|562091|620094|620095|620750|622848|672052|774886|790297|790300|806417|827074|885485|885486|887402|887403|961760", + "upstreamId": "16027|33448|33449|33450|33451|143071|143072|200016|200020|200021|200025|200027|207028|287320|287322|287323|287327|287329|288040|288052|288067|288073|288079|288085|290733|290734|290735|290736|290751|290752|290971|290990|290991|290992|290993|290994|291008|367037|433946|518644|518832|552067|552068|558686|562091|620094|620095|620750|622848|672052|774886|790297|790300|806417|827074|885485|885486|887402|887403|961760", "text": "Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)" }, { - "baseId": "16028|16030|106537|190896|191942|191943|193662|198616|269092|289273|289277|289278|289287|289288|289294|289295|289298|290056|290060|290067|290075|290084|290085|293149|293150|293151|293153|293155|293157|293161|293162|293164|293165|293597|293598|293601|293602|293605|293623|293635|293636|293639|421425|452118|493010|620759|620760|683565|686353|686358|799315|799316|799317|827649|827652|888257|888258|888259|888260|888261|888262|888263|888264|888265|888266|888267|888268|888269|888270|888271|888272|888273|888274|888275|888276|888277|888278|888279|888280|888281|888282|888283|888284|888285|888286|888287|888288|888289|888290|888291|888292|888293|891598|891599|891600|891601|971373|980154", + "upstreamId": "16028|16030|106537|190896|191942|191943|193662|198616|269092|289273|289277|289278|289287|289288|289294|289295|289298|290056|290060|290067|290075|290084|290085|293149|293150|293151|293153|293155|293157|293161|293162|293164|293165|293597|293598|293601|293602|293605|293623|293635|293636|293639|421425|452118|493010|620759|620760|683565|686353|686358|799315|799316|799317|827649|827652|888257|888258|888259|888260|888261|888262|888263|888264|888265|888266|888267|888268|888269|888270|888271|888272|888273|888274|888275|888276|888277|888278|888279|888280|888281|888282|888283|888284|888285|888286|888287|888288|888289|888290|888291|888292|888293|891598|891599|891600|891601|971373|980154", "text": "Asphyxiating thoracic dystrophy 2" }, { - "baseId": "16031|16032|16033|16034|16035|16036|16037|139197|139198|139199|139200|139201|139202|187984|187985|222996|259252|259253|262038|262039|309045|309047|313795|313810|313811|319615|319622|319641|319642|320193|320202|320203|361843|421768|514259|514260|544990|544995|545006|545010|545011|545017|545024|545028|545033|545035|545036|545038|545039|545045|545291|545297|545299|545316|545320|545323|545328|545337|545346|545366|545368|545372|545376|545377|545379|545382|545383|545388|545393|545399|545405|545406|545416|545424|545426|545430|545646|545649|545651|545655|545656|545658|545660|545661|545664|737260|751862|902630|902631|902632|902633|902634|902635|902636|902637|902638", + "upstreamId": "16031|16032|16033|16034|16035|16036|16037|139197|139198|139199|139200|139201|139202|187984|187985|222996|259252|259253|262038|262039|309045|309047|313795|313810|313811|319615|319622|319641|319642|320193|320202|320203|361843|421768|514259|514260|544990|544995|545006|545010|545011|545017|545024|545028|545033|545035|545036|545038|545039|545045|545291|545297|545299|545316|545320|545323|545328|545337|545346|545366|545368|545372|545376|545377|545379|545382|545383|545388|545393|545399|545405|545406|545416|545424|545426|545430|545646|545649|545651|545655|545656|545658|545660|545661|545664|737260|751862|902630|902631|902632|902633|902634|902635|902636|902637|902638", "text": "Xeroderma pigmentosum group A" }, { - "baseId": "16038|47606|47607|47608|47609|47610|919958|920431", + "upstreamId": "16038|47606|47607|47608|47609|47610|919958|920431", "text": "Spinocerebellar ataxia type 10" }, { - "baseId": "16039|17474|19923|20458|22452|22453|22454|23717|28628|29493|29757|29973|31129|39078|39083|39084|39085|39086|299023", + "upstreamId": "16039|17474|19923|20458|22452|22453|22454|23717|28628|29493|29757|29973|31129|39078|39083|39084|39085|39086|299023", "text": "Diabetes mellitus type 2, susceptibility to" }, { - "baseId": 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+ "upstreamId": 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"text": "Neuronal ceroid lipofuscinosis 7" }, { - "baseId": 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"text": "Seizures" }, { - "baseId": "16047|16048|16049", + "upstreamId": "16047|16048|16049", "text": "Retinitis pigmentosa 42" }, { - "baseId": 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+ "upstreamId": 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"text": "Charcot-Marie-Tooth disease, type 4H" }, { - "baseId": 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"text": "Charcot-Marie-Tooth disease type 4" }, { - "baseId": "16057|39837|39838|39839|39840|39841|139955|139956|139957|139958|139959|177460|177461|210915|210916|210919|210923|210927|210933|210935|213547|214383|214388|288663|288664|288672|288675|288682|288683|288687|288691|288692|289392|289395|289397|289398|289401|289404|292405|292406|292409|292412|292413|292414|292418|292420|292559|292563|292574|292606|292607|292609|359154|359155|359481|367178|368215|406111|549905|620751|626135|744011|759196|763608|763611|763615|790328|795323|805079|827524|851274|857613|857614|887894|887895|887896|887897|887898|887899|887900|887901|887902|887903|887904|887905|887906|887907|887908|887909|891560|891561|977793|977794|977795|977796", + "upstreamId": "16057|39837|39838|39839|39840|39841|139955|139956|139957|139958|139959|177460|177461|210915|210916|210919|210923|210927|210933|210935|213547|214383|214388|288663|288664|288672|288675|288682|288683|288687|288691|288692|289392|289395|289397|289398|289401|289404|292405|292406|292409|292412|292413|292414|292418|292420|292559|292563|292574|292606|292607|292609|359154|359155|359481|367178|368215|406111|549905|620751|626135|744011|759196|763608|763611|763615|790328|795323|805079|827524|851274|857613|857614|887894|887895|887896|887897|887898|887899|887900|887901|887902|887903|887904|887905|887906|887907|887908|887909|891560|891561|977793|977794|977795|977796", "text": "Acyl-CoA dehydrogenase family, member 9, deficiency of" }, { - "baseId": "16058|75319|84781|142399|191716|191716|191832|191940|192043|192139|192140|192687|192687|192688|192689|193660|195741|195741|196054|196054|196055|196056|196056|231497|231498|231498|236918|236918|244278|244279|244281|244282|244283|244283|244284|244285|244287|244288|244288|244289|244290|244290|244291|244292|244292|244293|244294|244294|265896|265896|265963|265963|266960|268743|268743|268885|268885|269804|269805|271724|271724|271725|271725|272148|272148|274250|275302|275506|281043|281048|281049|281054|281055|281060|281060|281062|281068|281068|281069|281077|281079|281079|281083|281083|281086|281091|281093|281093|281100|281101|281101|281650|281654|281658|281660|281661|281663|281666|281668|281668|281669|281687|281688|281689|281689|281695|281696|281698|281698|281708|281708|281720|281722|281723|281723|281727|282863|282864|282865|282866|282869|282872|282874|282874|282876|282883|282883|282886|282886|282891|282891|282892|282893|282894|282894|282896|282896|282899|282899|282904|282904|282906|282906|282913|282913|282914|282914|283149|283150|283151|283153|283155|283156|283157|283173|283176|283176|283179|283208|283208|283210|283210|283213|283213|359270|365178|365179|365179|365185|365185|365189|365189|365195|365197|365199|365201|365363|365363|365380|365385|365448|365460|365461|365461|365464|365464|405228|414805|414807|421254|442882|448208|448212|448214|448215|448219|448277|448288|448303|448308|448309|448314|448319|448323|448325|448334|448338|448343|448344|448346|448347|448354|448402|448404|448405|448409|448411|448413|448417|448426|481599|485980|498817|516031|516037|516051|516053|516057|516060|516067|516068|516069|516072|516073|516074|516082|516084|516092|516097|516099|516194|516202|516205|516209|516213|516218|516218|516223|516226|536598|540440|557356|557358|557360|557362|557364|557366|557368|557405|557407|557409|557411|557413|557415|557417|557419|557421|558024|558026|558028|558030|558032|558034|558036|558038|558040|558573|558575|558577|558579|558581|558583|612539|628212|628212|628213|628214|628215|628216|628217|628217|628218|628219|628220|628221|628222|628223|628224|628225|628226|628227|628228|628229|628230|628231|628232|628233|628234|628235|628236|628237|628238|628239|628240|628241|628242|628243|628244|628245|650769|690658|690659|690660|690661|695061|696837|696840|696841|746620|746623|762055|762057|778838|780758|787165|818989|818990|824354|824355|824356|824357|824358|824359|824360|824361|824362|824363|824364|824365|824366|824367|824368|824369|824369|824370|824371|824372|824373|824374|824375|824376|824377|824378|824379|824380|824381|824382|824383|850783|864719|864720|864721|864722|864723|864724|864725|864726|864727|864728|864729|864730|864731|864732|864733|864734|864735|864736|864737|864738|865201|922147|922148|922149|922150|922151|922152|922153|922154|922155|930644|930645|930646|930647|930648|930649|930650|930651|930652|939824|940647|942083|942084|942085|942086|942087|942088|942089|942090|942091|952502|952503|952504|952505|952506", + "upstreamId": "16058|75319|84781|142399|191716|191716|191832|191940|192043|192139|192140|192687|192687|192688|192689|193660|195741|195741|196054|196054|196055|196056|196056|231497|231498|231498|236918|236918|244278|244279|244281|244282|244283|244283|244284|244285|244287|244288|244288|244289|244290|244290|244291|244292|244292|244293|244294|244294|265896|265896|265963|265963|266960|268743|268743|268885|268885|269804|269805|271724|271724|271725|271725|272148|272148|274250|275302|275506|281043|281048|281049|281054|281055|281060|281060|281062|281068|281068|281069|281077|281079|281079|281083|281083|281086|281091|281093|281093|281100|281101|281101|281650|281654|281658|281660|281661|281663|281666|281668|281668|281669|281687|281688|281689|281689|281695|281696|281698|281698|281708|281708|281720|281722|281723|281723|281727|282863|282864|282865|282866|282869|282872|282874|282874|282876|282883|282883|282886|282886|282891|282891|282892|282893|282894|282894|282896|282896|282899|282899|282904|282904|282906|282906|282913|282913|282914|282914|283149|283150|283151|283153|283155|283156|283157|283173|283176|283176|283179|283208|283208|283210|283210|283213|283213|359270|365178|365179|365179|365185|365185|365189|365189|365195|365197|365199|365201|365363|365363|365380|365385|365448|365460|365461|365461|365464|365464|405228|414805|414807|421254|442882|448208|448212|448214|448215|448219|448277|448288|448303|448308|448309|448314|448319|448323|448325|448334|448338|448343|448344|448346|448347|448354|448402|448404|448405|448409|448411|448413|448417|448426|481599|485980|498817|516031|516037|516051|516053|516057|516060|516067|516068|516069|516072|516073|516074|516082|516084|516092|516097|516099|516194|516202|516205|516209|516213|516218|516218|516223|516226|536598|540440|557356|557358|557360|557362|557364|557366|557368|557405|557407|557409|557411|557413|557415|557417|557419|557421|558024|558026|558028|558030|558032|558034|558036|558038|558040|558573|558575|558577|558579|558581|558583|612539|628212|628212|628213|628214|628215|628216|628217|628217|628218|628219|628220|628221|628222|628223|628224|628225|628226|628227|628228|628229|628230|628231|628232|628233|628234|628235|628236|628237|628238|628239|628240|628241|628242|628243|628244|628245|650769|690658|690659|690660|690661|695061|696837|696840|696841|746620|746623|762055|762057|778838|780758|787165|818989|818990|824354|824355|824356|824357|824358|824359|824360|824361|824362|824363|824364|824365|824366|824367|824368|824369|824369|824370|824371|824372|824373|824374|824375|824376|824377|824378|824379|824380|824381|824382|824383|850783|864719|864720|864721|864722|864723|864724|864725|864726|864727|864728|864729|864730|864731|864732|864733|864734|864735|864736|864737|864738|865201|922147|922148|922149|922150|922151|922152|922153|922154|922155|930644|930645|930646|930647|930648|930649|930650|930651|930652|939824|940647|942083|942084|942085|942086|942087|942088|942089|942090|942091|952502|952503|952504|952505|952506", "text": "Distal spinal muscular atrophy, autosomal recessive 4" }, { - "baseId": "16058|20041|23440|441227|443712|452516|556613|558202|562065|625100|625143|625194|625292", + "upstreamId": "16058|20041|23440|441227|443712|452516|556613|558202|562065|625100|625143|625194|625292", "text": "Hereditary motor neuron disease" }, { - "baseId": "16059|16060", + "upstreamId": "16059|16060", "text": "MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF" }, { - "baseId": "16061|18998|21835|22033|22034|23405|28597|29418|29419|29511|31633|32916|33100|44292", + "upstreamId": "16061|18998|21835|22033|22034|23405|28597|29418|29419|29511|31633|32916|33100|44292", "text": "Myocardial infarction" }, { - "baseId": "16062|16063|16064|16065|16066|16067|16068|16069|39832|39833|39834|39835|273506|390529|437666|919100", + "upstreamId": "16062|16063|16064|16065|16066|16067|16068|16069|39832|39833|39834|39835|273506|390529|437666|919100", "text": "Lethal osteosclerotic bone dysplasia" }, { - "baseId": "16070|16071|16071|16072|16073|16074|167422|167423|169418|169422|169423|169424|169425|169428|169430|169434|169435|208453|331271|331273|331289|331306|331316|331347|331351|341637|341652|347012|347041|348305|348318|348326|348361|434668|539080|694279|791859|791860|791861|976671|977290", + "upstreamId": "16070|16071|16071|16072|16073|16074|167422|167423|169418|169422|169423|169424|169425|169428|169430|169434|169435|208453|331271|331273|331289|331306|331316|331347|331351|341637|341652|347012|347041|348305|348318|348326|348361|434668|539080|694279|791859|791860|791861|976671|977290", "text": "Schinzel-Giedion syndrome" }, { - "baseId": "16070|40530|100020|100024|141332|169569|171233|189212|190135|190136|190137|254100|254103|254104|256045|263959|271555|312682|313489|313519|313520|313534|313535|313536|313543|313546|319125|319683|319725|319726|319733|319734|319749|319750|325800|325831|325853|325854|325896|325916|325917|325922|325923|326880|326881|327191|327244|337052|337081|413635|426749|426750|445387|448523|448545|488722|489879|511407|553412|556535|557414|578035|587787|610419|619849|620934|621026|623668|626464|655018|680083|680084|680085|680086|680087|680088|680089|680090|680091|680092|680093|680094|680095|680096|680097|680098|680099|680100|680101|680102|680103|680104|680105|680106|680107|680108|680109|680110|680111|680112|680113|680114|680115|680116|680117|680118|680119|680120|680121|680122|680123|680124|680125|680126|680127|680128|680129|680130|680131|680132|680133|680134|680135|680136|680137|706511|706513|707621|729896|731499|822351|824610|966695|966696", + "upstreamId": "16070|40530|100020|100024|141332|169569|171233|189212|190135|190136|190137|254100|254103|254104|256045|263959|271555|312682|313489|313519|313520|313534|313535|313536|313543|313546|319125|319683|319725|319726|319733|319734|319749|319750|325800|325831|325853|325854|325896|325916|325917|325922|325923|326880|326881|327191|327244|337052|337081|413635|426749|426750|445387|448523|448545|488722|489879|511407|553412|556535|557414|578035|587787|610419|619849|620934|621026|623668|626464|655018|680083|680084|680085|680086|680087|680088|680089|680090|680091|680092|680093|680094|680095|680096|680097|680098|680099|680100|680101|680102|680103|680104|680105|680106|680107|680108|680109|680110|680111|680112|680113|680114|680115|680116|680117|680118|680119|680120|680121|680122|680123|680124|680125|680126|680127|680128|680129|680130|680131|680132|680133|680134|680135|680136|680137|706511|706513|707621|729896|731499|822351|824610|966695|966696", "text": "Arthrogryposis multiplex congenita" }, { - "baseId": "16070|141332|169569|171233|181416|189212|263959|413635|445387|488722|489879|587787|610419|620934|680083|680084|680085|680086|680087|680088|680089|680090|680091|680092|680093|680094|680095|680096|680097|680098|680099|680100|680101|680102|680103|680104|680105|680106|680107|680108|680109|680110|680111|680112|680113|680114|680115|680115|680116|680117|680118|680119|680120|680121|680122|680123|680124|680125|680126|680127|680128|680129|680130|680131|680132|680133|680134|680135|680136|680137|801537", + "upstreamId": "16070|141332|169569|171233|181416|189212|263959|413635|445387|488722|489879|587787|610419|620934|680083|680084|680085|680086|680087|680088|680089|680090|680091|680092|680093|680094|680095|680096|680097|680098|680099|680100|680101|680102|680103|680104|680105|680106|680107|680108|680109|680110|680111|680112|680113|680114|680115|680115|680116|680117|680118|680119|680120|680121|680122|680123|680124|680125|680126|680127|680128|680129|680130|680131|680132|680133|680134|680135|680136|680137|801537", "text": "Fetal akinesia sequence" }, { - "baseId": "16070|16071|167418|167419|167420|167421|167422|167422|167423|167423|208453|264907|362448|482171|512352|512354|514090|539080|611888|611890|611891|626268|798736|919797|919798|919799|963857|964499|971102|972987|972988|972989|972990|972991|972992|972993|976671", + "upstreamId": "16070|16071|167418|167419|167420|167421|167422|167422|167423|167423|208453|264907|362448|482171|512352|512354|514090|539080|611888|611890|611891|626268|798736|919797|919798|919799|963857|964499|971102|972987|972988|972989|972990|972991|972992|972993|976671", "text": "Mental retardation, autosomal dominant 29" }, { - "baseId": "16074|27663|27665|27666|27667|27668|29701|48939|50038|152948|152949|152950|174177|204572|362963|362964|362965|362966|362967|362968|362969|362970|362971|362972|362973|362974|362975|362976|362996|362997|362998|362999|363000|363001|363002|363003|363004|363231", + "upstreamId": "16074|27663|27665|27666|27667|27668|29701|48939|50038|152948|152949|152950|174177|204572|362963|362964|362965|362966|362967|362968|362969|362970|362971|362972|362973|362974|362975|362976|362996|362997|362998|362999|363000|363001|363002|363003|363004|363231", "text": "Chronic myelogenous leukemia, BCR-ABL1 positive" }, { - "baseId": "16075", + "upstreamId": "16075", "text": "Deafness, autosomal dominant 44" }, { - "baseId": "16076|16077|16078|16079|16080|39831|187650|187651|187652|187653|208398|256183|256184|328639|328648|328650|328651|328652|338618|338619|338621|344679|344683|344691|344695|344696|344698|344699|344703|346082|346086|346090|531360|531415|571215|571508|571509|571521|574497|574498|614435|620590|646071|646072|646073|646074|646075|646076|646077|646078|646079|646080|715479|740805|740806|740807|755884|755885|755886|771566|845486|845487|845488|845489|852215|877679|877680|877681|877682|877683|877684|880527|880528|928330|928331|928332|928333|928334|937978|937979|937980|937981|949968|949969|949970|949971|949972|949973|958142|964482", + "upstreamId": "16076|16077|16078|16079|16080|39831|187650|187651|187652|187653|208398|256183|256184|328639|328648|328650|328651|328652|338618|338619|338621|344679|344683|344691|344695|344696|344698|344699|344703|346082|346086|346090|531360|531415|571215|571508|571509|571521|574497|574498|614435|620590|646071|646072|646073|646074|646075|646076|646077|646078|646079|646080|715479|740805|740806|740807|755884|755885|755886|771566|845486|845487|845488|845489|852215|877679|877680|877681|877682|877683|877684|880527|880528|928330|928331|928332|928333|928334|937978|937979|937980|937981|949968|949969|949970|949971|949972|949973|958142|964482", "text": "Severe congenital neutropenia 4, autosomal recessive" }, { - "baseId": "16081|679799|679830", + "upstreamId": "16081|679799|679830", "text": "Dursun syndrome" }, { - "baseId": "16082|16083|39827|39828|39829|39830|40302|40303|134473|134474|134475|134476|134477|134478|134479|213640|242500|326295|326301|326302|326310|326311|326312|326316|326317|326322|326323|326324|326325|326329|326331|336043|336047|336048|336049|336053|336056|342317|342319|342326|342327|342329|342330|342333|343920|343922|343923|343924|343927|343932|343940|343942|343943|343946|343947|343951|343955|353356|361645|375399|401319|438017|481380|506477|538454|575502|608908|608909|612314|685422|688645|688647|690147|791640|791641|798704|798705|875935|875936|875937|875938|875939|875940|875941|875942|875943|876721|927941", + "upstreamId": "16082|16083|39827|39828|39829|39830|40302|40303|134473|134474|134475|134476|134477|134478|134479|213640|242500|326295|326301|326302|326310|326311|326312|326316|326317|326322|326323|326324|326325|326329|326331|336043|336047|336048|336049|336053|336056|342317|342319|342326|342327|342329|342330|342333|343920|343922|343923|343924|343927|343932|343940|343942|343943|343946|343947|343951|343955|353356|361645|375399|401319|438017|481380|506477|538454|575502|608908|608909|612314|685422|688645|688647|690147|791640|791641|798704|798705|875935|875936|875937|875938|875939|875940|875941|875942|875943|876721|927941", "text": "Spastic paraplegia 35" }, { - "baseId": "16085|16086|16088|190546|190547|190548|191064|192134|192467|194466|195379|196295|227235|237089|267230|267232|267363|268578|268662|271727|271768|272251|273648|274366|284794|284802|284807|284809|284811|284823|284825|284827|284831|284833|284834|284839|284843|284845|284847|284850|284854|284855|284859|284865|284869|284870|285487|285488|285491|285492|285495|285496|285497|285498|285500|285501|285502|285503|285513|285522|285524|285530|287700|287701|287705|287707|287708|287726|287728|287738|287754|287761|287762|287767|287768|287769|287771|287772|287780|287784|287791|287793|287804|287805|287807|287816|287827|287978|287986|287989|287991|287992|287993|287997|288006|288017|288019|288031|288034|288042|288044|288045|288047|288060|288061|288065|288071|288074|288081|288105|288107|288108|361173|361174|405638|488352|513922|584937|588799|608874|620064|620065|697353|719661|719662|719665|719666|719667|733199|733202|733203|733205|733206|733208|733210|747366|747367|762967|790201|795176|858422|883812|883813|883814|883815|883816|883817|883818|883819|883820|883821|883822|883823|883824|883825|883826|883827|883828|883829|883830|883831|883832|883833|883834|883835|883836|883837|883838|883839|883840|883841|883842|883843|883844|883845|883846|883847|883848|883849|883850|883851|883852|883853|883854|883855|883856|883857|883858|883859|883860|883861|883862|883863|883864|883865|883866|883867|883868|883869|883870|883871|883872|883873|883874|883875|883876|883877|883878|883879|883880|883881|887278|887279|887280|887281|918743", + "upstreamId": "16085|16086|16088|190546|190547|190548|191064|192134|192467|194466|195379|196295|227235|237089|267230|267232|267363|268578|268662|271727|271768|272251|273648|274366|284794|284802|284807|284809|284811|284823|284825|284827|284831|284833|284834|284839|284843|284845|284847|284850|284854|284855|284859|284865|284869|284870|285487|285488|285491|285492|285495|285496|285497|285498|285500|285501|285502|285503|285513|285522|285524|285530|287700|287701|287705|287707|287708|287726|287728|287738|287754|287761|287762|287767|287768|287769|287771|287772|287780|287784|287791|287793|287804|287805|287807|287816|287827|287978|287986|287989|287991|287992|287993|287997|288006|288017|288019|288031|288034|288042|288044|288045|288047|288060|288061|288065|288071|288074|288081|288105|288107|288108|361173|361174|405638|488352|513922|584937|588799|608874|620064|620065|697353|719661|719662|719665|719666|719667|733199|733202|733203|733205|733206|733208|733210|747366|747367|762967|790201|795176|858422|883812|883813|883814|883815|883816|883817|883818|883819|883820|883821|883822|883823|883824|883825|883826|883827|883828|883829|883830|883831|883832|883833|883834|883835|883836|883837|883838|883839|883840|883841|883842|883843|883844|883845|883846|883847|883848|883849|883850|883851|883852|883853|883854|883855|883856|883857|883858|883859|883860|883861|883862|883863|883864|883865|883866|883867|883868|883869|883870|883871|883872|883873|883874|883875|883876|883877|883878|883879|883880|883881|887278|887279|887280|887281|918743", "text": "Three M syndrome 2" }, { - "baseId": 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+ "upstreamId": 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"text": "Focal segmental glomerulosclerosis 5" }, { - "baseId": 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+ "upstreamId": 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"text": "Charcot-Marie-Tooth disease, dominant intermediate E" }, { - "baseId": "16094|204571|325661|325662|325669|325670|325675|325678|325684|325685|325693|325695|325700|325707|325710|325712|325713|325721|325723|325724|325725|325727|325728|325729|335330|335341|335342|335344|335348|335363|335364|335368|335372|341809|341810|341819|341820|341821|341825|341827|341829|341830|341831|341832|341836|341840|341842|341843|341845|343297|343298|343300|343307|343308|343313|343315|343317|343322|343323|343325|343326|343330|343331|343333|343336|343339|343344|343345|438656|513360|620548|620549|703735|714972|726679|875446|875447|875448|875449|875450|875451|875452|875453|875454|875455|875456|875457|875458|875459|875460|875461|875462|875463|875464|875465|875466|875467|875468|875469|875470|875471|875472|875473|875474|875475|875476|875477|875478|875479|875480|875481|875482|875483|875484|875485", + "upstreamId": "16094|204571|325661|325662|325669|325670|325675|325678|325684|325685|325693|325695|325700|325707|325710|325712|325713|325721|325723|325724|325725|325727|325728|325729|335330|335341|335342|335344|335348|335363|335364|335368|335372|341809|341810|341819|341820|341821|341825|341827|341829|341830|341831|341832|341836|341840|341842|341843|341845|343297|343298|343300|343307|343308|343313|343315|343317|343322|343323|343325|343326|343330|343331|343333|343336|343339|343344|343345|438656|513360|620548|620549|703735|714972|726679|875446|875447|875448|875449|875450|875451|875452|875453|875454|875455|875456|875457|875458|875459|875460|875461|875462|875463|875464|875465|875466|875467|875468|875469|875470|875471|875472|875473|875474|875475|875476|875477|875478|875479|875480|875481|875482|875483|875484|875485", "text": "Growth retardation, developmental delay, coarse facies, and early death" }, { - "baseId": "16095|108175|108176|108177|108178|141637|141638|141640|205770|205771|211638|211639|316904|316907|316909|316912|316913|316916|324508|324510|324513|324515|324518|324522|330689|330692|330694|330699|330703|330705|330707|332072|332081|332087|332103|332107|332108|332112|738617|869721|869722|869723|869724|869725|869726", + "upstreamId": "16095|108175|108176|108177|108178|141637|141638|141640|205770|205771|211638|211639|316904|316907|316909|316912|316913|316916|324508|324510|324513|324515|324518|324522|330689|330692|330694|330699|330703|330705|330707|332072|332081|332087|332103|332107|332108|332112|738617|869721|869722|869723|869724|869725|869726", "text": "Myopathy, lactic acidosis, and sideroblastic anemia 2" }, { - "baseId": "16096|16097|16098|16099|16100|16101|16102|16103|16104|16105|16106|34398|34399|39819|39820|140768|140769|140773|140774|140775|277455|277460|277462|277469|277473|277660|277661|278545|278546|278547|278552|278574|278577|278579|278586|278589|278590|278591|278592|364624|364690|427664|442667|513498|620708|682589|789883|789884|789885|789886|861604|862827|862828|862829|862830|862831|862832|862833|862834|862835|862836|862837|865038|865039|865040", + "upstreamId": "16096|16097|16098|16099|16100|16101|16102|16103|16104|16105|16106|34398|34399|39819|39820|140768|140769|140773|140774|140775|277455|277460|277462|277469|277473|277660|277661|278545|278546|278547|278552|278574|278577|278579|278586|278589|278590|278591|278592|364624|364690|427664|442667|513498|620708|682589|789883|789884|789885|789886|861604|862827|862828|862829|862830|862831|862832|862833|862834|862835|862836|862837|865038|865039|865040", "text": "Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome" }, { - "baseId": "16096|16101|51184|225802|225802|361061|361062|402131|402131|514220|536183", + "upstreamId": "16096|16101|51184|225802|225802|361061|361062|402131|402131|514220|536183", "text": "Gait ataxia" }, { - "baseId": "16096|16101|360889", + "upstreamId": "16096|16101|360889", "text": "Gait imbalance" }, { - "baseId": "16096|16101", + "upstreamId": "16096|16101", "text": "Dysmetria" }, { - "baseId": "16096|16101|29017|39943|184571|192474|207388|226496|243994|263173|263216|263221|263245|263259|263263|263290|263386|263390|263395|263397|263408|286038|360910|361083|514000|514108|514144|514165|514172|514332|590033|590041|590045|590071|590072|590076|590083|590087|590088|590092|615237|792643|792644|797206|815876", + "upstreamId": "16096|16101|29017|39943|184571|192474|207388|226496|243994|263173|263216|263221|263245|263259|263263|263290|263386|263390|263395|263397|263408|286038|360910|361083|514000|514108|514144|514165|514172|514332|590033|590041|590045|590071|590072|590076|590083|590087|590088|590092|615237|792643|792644|797206|815876", "text": "10 conditions" }, { - "baseId": "16099|16101|427664", + "upstreamId": "16099|16101|427664", "text": "Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation" }, { - "baseId": "16107|16108|16109|16110|16113|16114|16115|16115|16116|16117|16118|16119|101586|101587|101588|101589|101590|131807|131809|131811|131812|177286|177418|178021|186227|190880|190880|191930|205194|208284|208285|208287|208288|214350|214351|214352|214353|214354|214355|221479|237020|237107|237317|237317|242442|255806|255807|255810|255815|255817|266004|268059|268166|269093|271215|273848|273848|325639|325640|325646|325648|325649|325653|325654|325657|335287|335289|335291|335292|335293|335300|335303|335305|335307|335309|335319|335320|335321|335322|335323|335325|341773|341774|341775|341779|341787|341788|341791|341795|341797|341803|341805|343259|343260|343262|343266|343269|343272|343273|343276|343282|343285|343286|343287|343287|343293|375212|401969|409651|415498|432330|530041|530184|622911|644749|688608|688615|797343|818305|875411|875412|875413|875414|875415|875416|875417|875418|875419|875420|875421|875422|875423|875424|875425|875426|875427|875428|875429|875430|875431|875432|875433|875434|875435|875436|875437|875438|875439|875440|875441|875442|875443|875444|875445|876677|876678|919662|919663|919664", + "upstreamId": "16107|16108|16109|16110|16113|16114|16115|16115|16116|16117|16118|16119|101586|101587|101588|101589|101590|131807|131809|131811|131812|177286|177418|178021|186227|190880|190880|191930|205194|208284|208285|208287|208288|214350|214351|214352|214353|214354|214355|221479|237020|237107|237317|237317|242442|255806|255807|255810|255815|255817|266004|268059|268166|269093|271215|273848|273848|325639|325640|325646|325648|325649|325653|325654|325657|335287|335289|335291|335292|335293|335300|335303|335305|335307|335309|335319|335320|335321|335322|335323|335325|341773|341774|341775|341779|341787|341788|341791|341795|341797|341803|341805|343259|343260|343262|343266|343269|343272|343273|343276|343282|343285|343286|343287|343287|343293|375212|401969|409651|415498|432330|530041|530184|622911|644749|688608|688615|797343|818305|875411|875412|875413|875414|875415|875416|875417|875418|875419|875420|875421|875422|875423|875424|875425|875426|875427|875428|875429|875430|875431|875432|875433|875434|875435|875436|875437|875438|875439|875440|875441|875442|875443|875444|875445|876677|876678|919662|919663|919664", "text": "Joubert syndrome 7" }, { - "baseId": "16107|16113|482045|568743|620477|620478|620479|620547", + "upstreamId": "16107|16113|482045|568743|620477|620478|620479|620547", "text": "RPGRIP1L-Related Disorders" }, { - "baseId": "16111|16112|16113|16113|16115|16117|71200|71201|101586|101587|101588|101589|101590|131807|131809|131811|131812|177286|177418|178021|190880|190880|191063|191930|208284|208285|208288|237020|237107|237317|237317|242442|255806|255807|255810|255815|255817|266004|268059|268166|269093|271215|273848|273848|325639|325640|325646|325648|325649|325653|325654|325657|335287|335289|335291|335292|335293|335300|335303|335305|335307|335309|335319|335320|335321|335322|335323|335325|341773|341774|341775|341779|341787|341788|341791|341795|341797|341803|341805|343259|343260|343262|343266|343269|343272|343273|343276|343282|343285|343286|343287|343287|343293|375212|401969|409651|415498|530041|530184|644749|688608|688615|797343|875411|875412|875413|875414|875415|875416|875417|875418|875419|875420|875421|875422|875423|875424|875425|875426|875427|875428|875429|875430|875431|875432|875433|875434|875435|875436|875437|875438|875439|875440|875441|875442|875443|875444|875445|876677|876678", + "upstreamId": "16111|16112|16113|16113|16115|16117|71200|71201|101586|101587|101588|101589|101590|131807|131809|131811|131812|177286|177418|178021|190880|190880|191063|191930|208284|208285|208288|237020|237107|237317|237317|242442|255806|255807|255810|255815|255817|266004|268059|268166|269093|271215|273848|273848|325639|325640|325646|325648|325649|325653|325654|325657|335287|335289|335291|335292|335293|335300|335303|335305|335307|335309|335319|335320|335321|335322|335323|335325|341773|341774|341775|341779|341787|341788|341791|341795|341797|341803|341805|343259|343260|343262|343266|343269|343272|343273|343276|343282|343285|343286|343287|343287|343293|375212|401969|409651|415498|530041|530184|644749|688608|688615|797343|875411|875412|875413|875414|875415|875416|875417|875418|875419|875420|875421|875422|875423|875424|875425|875426|875427|875428|875429|875430|875431|875432|875433|875434|875435|875436|875437|875438|875439|875440|875441|875442|875443|875444|875445|876677|876678", "text": "Meckel syndrome, type 5" }, { - "baseId": "16117", + "upstreamId": "16117", "text": "Retinitis pigmentosa in ciliopathies, modifier of" }, { - "baseId": 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"text": "Nephronophthisis" }, { - "baseId": "16117|101586|101587|101588|101589|101590|131807|131809|131811|131812|177286|177418|178021|190880|191930|208284|208285|208288|237020|237107|237317|242442|255806|255807|255810|255815|255817|266004|268059|268166|269093|271215|273848|325639|325640|325646|325648|325649|325653|325654|325657|335287|335289|335291|335292|335293|335300|335303|335305|335307|335309|335319|335320|335321|335322|335323|335325|341773|341774|341775|341779|341787|341788|341791|341795|341797|341803|341805|343259|343260|343262|343266|343269|343272|343273|343276|343282|343285|343286|343287|343293|375212|415498|530041|644749|688608|688615|797343|875411|875412|875413|875414|875415|875416|875417|875418|875419|875420|875421|875422|875423|875424|875425|875426|875427|875428|875429|875430|875431|875432|875433|875434|875435|875436|875437|875438|875439|875440|875441|875442|875443|875444|875445|876677|876678", + "upstreamId": "16117|101586|101587|101588|101589|101590|131807|131809|131811|131812|177286|177418|178021|190880|191930|208284|208285|208288|237020|237107|237317|242442|255806|255807|255810|255815|255817|266004|268059|268166|269093|271215|273848|325639|325640|325646|325648|325649|325653|325654|325657|335287|335289|335291|335292|335293|335300|335303|335305|335307|335309|335319|335320|335321|335322|335323|335325|341773|341774|341775|341779|341787|341788|341791|341795|341797|341803|341805|343259|343260|343262|343266|343269|343272|343273|343276|343282|343285|343286|343287|343293|375212|415498|530041|644749|688608|688615|797343|875411|875412|875413|875414|875415|875416|875417|875418|875419|875420|875421|875422|875423|875424|875425|875426|875427|875428|875429|875430|875431|875432|875433|875434|875435|875436|875437|875438|875439|875440|875441|875442|875443|875444|875445|876677|876678", "text": "Nephronophthisis 8" }, { - "baseId": "16118|16119", + "upstreamId": "16118|16119", "text": "COACH SYNDROME 3" }, { 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"16122|142238|142239|178173|178174|178175|178176|178177|270762|302069|302073|302083|302084|302089|302090|302096|302097|302098|305247|305248|305254|305255|305256|309999|310001|310002|310003|310018|310019|310020|310031|310084|310092|310093|310094|310105|310106|310107|710846|730473|800378|897593|897594|897595|897596|897597|897598|897599|897600|897601|897602|897603|897604|897605|897606|900327|900328|900329|900330|900331", + "upstreamId": "16122|142238|142239|178173|178174|178175|178176|178177|270762|302069|302073|302083|302084|302089|302090|302096|302097|302098|305247|305248|305254|305255|305256|309999|310001|310002|310003|310018|310019|310020|310031|310084|310092|310093|310094|310105|310106|310107|710846|730473|800378|897593|897594|897595|897596|897597|897598|897599|897600|897601|897602|897603|897604|897605|897606|900327|900328|900329|900330|900331", "text": "Premature ovarian failure 5" }, { - "baseId": "16123|27735|27736|27737|38861|428764|539140", + "upstreamId": "16123|27735|27736|27737|38861|428764|539140", "text": "Autoimmune thyroid disease 3" }, { - "baseId": "16124|16125|534064|848305", + "upstreamId": "16124|16125|534064|848305", "text": "Cataract 31 multiple types" }, { - "baseId": "16126|16127|16128|16129|16130|16131|16132|39813|321430|321433|337274|339228|339279|339300|513724|654757", + "upstreamId": "16126|16127|16128|16129|16130|16131|16132|39813|321430|321433|337274|339228|339279|339300|513724|654757", "text": "Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome" }, { - "baseId": 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+ "upstreamId": "16127|16130|33457|33458|33459|39732|101714|101715|101716|101717|134548|134549|188854|278799|278801|278808|278809|278820|278821|278830|278831|278836|278838|278844|278846|278848|278849|278852|278857|278858|278863|278867|278870|278871|278873|278877|278879|278880|278965|278966|278967|278979|278980|278988|278994|279013|279015|279016|279017|279018|279022|279023|279024|279025|279026|279030|279032|279033|279034|279037|279039|280153|280164|280183|280186|280203|280209|280223|280225|280231|280232|280251|280253|280265|280266|280275|280283|280285|280287|280288|280292|280293|280294|280296|280297|280298|280300|280303|280304|280305|280306|280307|280309|280310|280314|280315|280317|280320|280321|280325|280329|280336|280342|280359|280360|280361|280369|280371|280372|280376|280377|321408|321413|321416|321418|330643|330644|330647|330660|330665|337284|337288|337301|337302|337303|339235|339238|339246|339249|339254|339259|339268|339271|339273|339274|339278|339294|353094|361654|440444|442710|481580|508766|512887|620491|620492|620493|702995|789915|794562|858898|861614|863473|863474|863475|863476|863477|863478|863479|863480|863481|863482|863483|863484|863485|863486|863487|863488|863489|863490|863491|863492|863493|863494|863495|863496|863497|863498|863499|863500|863501|863502|863503|863504|863505|863506|863507|863508|863509|863510|863511|863512|865108|872674|872675|872676|872677|872678|872679|872680|872681|872682|872683|872684|872685|872686|872687|872688|872689|872690|872691|872692|872693|872694|872695|872696|872697|876451|876452", "text": "Posterior column ataxia-retinitis pigmentosa syndrome" }, { - "baseId": "16133|16137|16138|16139|16140|16141|16142|16145|16147|186640|186643|193447|425390|623127|623128|623172|623173|623174|623175", + "upstreamId": "16133|16137|16138|16139|16140|16141|16142|16145|16147|186640|186643|193447|425390|623127|623128|623172|623173|623174|623175", "text": "Glycogen storage disease IIIa" }, { - "baseId": 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+ "upstreamId": 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"text": "Glycogen storage disease type III" }, { - "baseId": "16134|16135|16138|16143|16144|192258", + "upstreamId": "16134|16135|16138|16143|16144|192258", "text": "Glycogen storage disease IIIb" }, { - "baseId": "16146", + "upstreamId": "16146", "text": "Glycogen storage disease IIIc" }, { - "baseId": 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"text": "Spastic paraplegia 11, autosomal recessive" }, { - "baseId": "16148|16148|16149|16150|49728|214790|214791|237525|237526|339019|400608|465035|465061|482070|569374|792796", + "upstreamId": "16148|16148|16149|16150|49728|214790|214791|237525|237526|339019|400608|465035|465061|482070|569374|792796", "text": "Charcot-Marie-Tooth disease, axonal type 2X" }, { - "baseId": "16150|16151|49711|49718|49757|49782|339019|374516|400608|465035|465061|482070|552181|552182|569374|792796|861398|861399|861400", + "upstreamId": "16150|16151|49711|49718|49757|49782|339019|374516|400608|465035|465061|482070|552181|552182|569374|792796|861398|861399|861400", "text": "Amyotrophic lateral sclerosis type 5" }, { - "baseId": 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"16151|17562|21144|21146|45791|49924|49929|51184|135812|181460|181467|185949|190660|190870|205789|211769|212511|236923|266622|284698|285646|358179|375819|389217|392272|401365|402131|411550|411551|411552|411553|411554|411555|411556|411557|411558|411559|411560|411561|411562|411563|411564|411565|411566|411567|411568|411569|411570|411571|411572|411573|411574|411575|411576|411577|411578|411579|411580|411581|411582|411583|411585|411586|411588|411589|411590|411591|411592|411593|411594|411595|411596|411597|411598|464396|464398|464989|465100|465172|465178|465183|465193|465255|497082|528928|529032|529036|529373|529374|529379|529542|567194|567197|568580|573406|643420|643421|643422|682752|693694|693695|693696|693700|693701|693702|693703|695650|695652|714479|739671|815844|842546|918407|927376|936994|936995|936996|948947|957457", "text": "Hereditary spastic paraplegia" }, { - "baseId": "16157|16158|16159|16160|16161|265917|290283|290284|290285|290290|290291|290295|291116|291117|291118|291128|291136|291140|291141|291142|294419|294428|294431|294437|294438|294446|294758|294759|294768|294783|294793|294807|294827|367543|367565|500253|552073|620125|620126|698078|792736|888873|888874|888875|888876|888877|888878|888879|888880|888881|888882|888883|888884|888885|888886|888887|888888|888889|891640|891641", + "upstreamId": "16157|16158|16159|16160|16161|265917|290283|290284|290285|290290|290291|290295|291116|291117|291118|291128|291136|291140|291141|291142|294419|294428|294431|294437|294438|294446|294758|294759|294768|294783|294793|294807|294827|367543|367565|500253|552073|620125|620126|698078|792736|888873|888874|888875|888876|888877|888878|888879|888880|888881|888882|888883|888884|888885|888886|888887|888888|888889|891640|891641", "text": "Anemia, sideroblastic, 2, pyridoxine-refractory" }, { - "baseId": "16158|620124", + "upstreamId": "16158|620124", "text": "SLC25A38-Related Disorders" }, { - "baseId": "16162|16163|16164|16165|16166|16167|16168|433925|516104|628249|628250|628251|730021|732567|762062|799223|824388|824389|952508|952509", + "upstreamId": "16162|16163|16164|16165|16166|16167|16168|433925|516104|628249|628250|628251|730021|732567|762062|799223|824388|824389|952508|952509", "text": "Schneckenbecken dysplasia" }, { - "baseId": "16169", + "upstreamId": "16169", "text": "Inflammatory bowel disease 10, susceptibility to" }, { - "baseId": "16170|16171|39807|39808|39809|101542|101544|101545|106536|177679|229664|229665|229666|229667|229668|229669|229671|229672|229674|307025|307026|307027|311138|311144|316734|316738|316741|316744|316748|316751|316752|316754|317139|317140|317141|317143|317157|317159|364144|369915|370416|370418|370683|372286|372310|444372|444373|444375|458412|458414|458874|458876|458878|458882|458919|458923|459410|459412|459417|459418|459421|496504|496937|524064|524069|524072|524355|524363|524577|524581|524583|524586|524622|562830|562832|562845|563540|563552|565339|565568|565570|568543|568546|568547|568549|637769|637770|637771|637772|637773|637774|637775|637776|637777|637778|637779|637780|655900|692589|692590|692591|692592|736921|751429|751430|767150|767152|767154|783295|820075|835554|835555|835556|835557|835558|835559|835560|835561|835562|835563|835564|835565|835566|901164|901165|901166|901167|901168|901169|901170|901171|901172|925404|925405|934565|934566|934567|934568|934569|946395|946396|955703|955704|955705|955706|955707", + "upstreamId": "16170|16171|39807|39808|39809|101542|101544|101545|106536|177679|229664|229665|229666|229667|229668|229669|229671|229672|229674|307025|307026|307027|311138|311144|316734|316738|316741|316744|316748|316751|316752|316754|317139|317140|317141|317143|317157|317159|364144|369915|370416|370418|370683|372286|372310|444372|444373|444375|458412|458414|458874|458876|458878|458882|458919|458923|459410|459412|459417|459418|459421|496504|496937|524064|524069|524072|524355|524363|524577|524581|524583|524586|524622|562830|562832|562845|563540|563552|565339|565568|565570|568543|568546|568547|568549|637769|637770|637771|637772|637773|637774|637775|637776|637777|637778|637779|637780|655900|692589|692590|692591|692592|736921|751429|751430|767150|767152|767154|783295|820075|835554|835555|835556|835557|835558|835559|835560|835561|835562|835563|835564|835565|835566|901164|901165|901166|901167|901168|901169|901170|901171|901172|925404|925405|934565|934566|934567|934568|934569|946395|946396|955703|955704|955705|955706|955707", "text": "Congenital disorder of glycosylation type 1M" }, { - "baseId": "16172|16173|16174|16175|16176|16177|16178|16179|16180|16181|48341|48591|48592|94345|191592|255359|255360|271580|323347|323348|323353|323356|323358|323376|323379|323382|323383|332999|333003|333008|333021|333022|333028|333029|333032|333035|333039|333041|333044|333046|333047|339868|339869|339872|339873|339876|339877|339880|339881|339882|339883|341281|341282|341283|341287|341288|341291|431508|439522|464530|464537|465167|465174|465305|465420|573538|587548|703324|703326|703329|703331|714597|726240|754665|778195|785010|874139|874140|874141|874142|874143|874144|874145|874146|874147|874148|874149|874150|874151|874152|874153|874154|874155|874156|874157|874158|874159|874160|876567|876568|876569|876570|876571|903605|919595|919596|937073|937074|940330|941095|949012|960121|973038|973039", + "upstreamId": "16172|16173|16174|16175|16176|16177|16178|16179|16180|16181|48341|48591|48592|94345|191592|255359|255360|271580|323347|323348|323353|323356|323358|323376|323379|323382|323383|332999|333003|333008|333021|333022|333028|333029|333032|333035|333039|333041|333044|333046|333047|339868|339869|339872|339873|339876|339877|339880|339881|339882|339883|341281|341282|341283|341287|341288|341291|431508|439522|464530|464537|465167|465174|465305|465420|573538|587548|703324|703326|703329|703331|714597|726240|754665|778195|785010|874139|874140|874141|874142|874143|874144|874145|874146|874147|874148|874149|874150|874151|874152|874153|874154|874155|874156|874157|874158|874159|874160|876567|876568|876569|876570|876571|903605|919595|919596|937073|937074|940330|941095|949012|960121|973038|973039", "text": "Matthew-Wood syndrome" }, { - "baseId": "16182|313115|313119|319168|319170|319174|319177|325309|325310|325311|326158|326167|326173|326176|326183|326188|545814|712698|724288|783902|978866|978867|978868|978869|978870|978871|978872|978873|978874|978875|978876", + "upstreamId": "16182|313115|313119|319168|319170|319174|319177|325309|325310|325311|326158|326167|326173|326176|326183|326188|545814|712698|724288|783902|978866|978867|978868|978869|978870|978871|978872|978873|978874|978875|978876", "text": "Hydrolethalus syndrome" }, { - "baseId": "16182|313120|545808|545811|545814|546109|546111|546161|546165|546435|546437|546439", + "upstreamId": "16182|313120|545808|545811|545814|546109|546111|546161|546165|546435|546437|546439", "text": "Hydrolethalus syndrome 1" }, { - "baseId": "16183|16184|16185|185756|188107|205049|205050|213970|237274|243978|366235|366274|366276|366277|366800|405524|421351|481398|481399|499680|499696|629237|629238|629239|629240|677411|730094|743857|789112|952868|961231|961232|961752|961753|961754|961755|961756", + "upstreamId": "16183|16184|16185|185756|188107|205049|205050|213970|237274|243978|366235|366274|366276|366277|366800|405524|421351|481398|481399|499680|499696|629237|629238|629239|629240|677411|730094|743857|789112|952868|961231|961232|961752|961753|961754|961755|961756", "text": "Beta-hydroxyisobutyryl-CoA deacylase deficiency" }, { - "baseId": "16186|16187|16188|16189|16190|102398|106441|106442|176959|177222|177507|177508|177509|177510|186021|192577|212353|212354|212355|221433|221434|251323|251324|251325|251326|251327|251329|251330|265833|265834|292197|292198|292203|292204|292209|292211|292219|292220|293631|293632|293634|293637|293643|293647|296969|296970|296971|296972|296974|296977|296978|296980|296984|296985|357327|428271|428272|428273|438279|453263|520007|543041|543046|543048|543050|543051|543057|543058|543060|543070|543257|543262|543273|543274|543287|543298|543300|543302|543304|543307|543322|543324|543327|543330|543334|543342|543346|543350|543353|543355|543357|543358|543360|543363|543367|543369|543371|543373|543375|543384|543386|543387|551531|615888|620147|620148|631913|683620|683621|686492|686495|691508|698361|764292|828732|828734|828735|828739|828744|856311|890077|890078|890079|890080|890081|890082|890083|890084|890085|890086|890087|962699|978012|978013|978014|978015", + "upstreamId": "16186|16187|16188|16189|16190|102398|106441|106442|176959|177222|177507|177508|177509|177510|186021|192577|212353|212354|212355|221433|221434|251323|251324|251325|251326|251327|251329|251330|265833|265834|292197|292198|292203|292204|292209|292211|292219|292220|293631|293632|293634|293637|293643|293647|296969|296970|296971|296972|296974|296977|296978|296980|296984|296985|357327|428271|428272|428273|438279|453263|520007|543041|543046|543048|543050|543051|543057|543058|543060|543070|543257|543262|543273|543274|543287|543298|543300|543302|543304|543307|543322|543324|543327|543330|543334|543342|543346|543350|543353|543355|543357|543358|543360|543363|543367|543369|543371|543373|543375|543384|543386|543387|551531|615888|620147|620148|631913|683620|683621|686492|686495|691508|698361|764292|828732|828734|828735|828739|828744|856311|890077|890078|890079|890080|890081|890082|890083|890084|890085|890086|890087|962699|978012|978013|978014|978015", "text": "Bardet-Biedl syndrome 12" }, { - "baseId": "16186|17586|28369|39169|165814|165815|188428|207171|207172|207173|226235|226236|406053|514069|514070", + "upstreamId": "16186|17586|28369|39169|165814|165815|188428|207171|207172|207173|226235|226236|406053|514069|514070", "text": "Abnormality of cardiovascular system morphology" }, { - "baseId": "16186|203840|203843|260323|263250|263309|360933|360934", + "upstreamId": "16186|203840|203843|260323|263250|263309|360933|360934", "text": "Inability to walk" }, { - "baseId": "16186|28855|28860|39217|259861|259864|361188|380284|428715|514122|590738|590739|625969|625969|625971|625972", + "upstreamId": "16186|28855|28860|39217|259861|259864|361188|380284|428715|514122|590738|590739|625969|625969|625971|625972", "text": "Postaxial polydactyly type A1" }, { - "baseId": "16186|18513|24396|98778|188865|360815|360816|360817|361392|362165|415139|513965|513966|514039|514150|801185|801225|980736", + "upstreamId": "16186|18513|24396|98778|188865|360815|360816|360817|361392|362165|415139|513965|513966|514039|514150|801185|801225|980736", "text": "Visual impairment" }, { - "baseId": "16191|16192|16193|16194|16195|16196|16197|16198|187120|254568|254569|254570|254572|254580|254581|254585|254586|254587|317279|317280|317286|317287|317293|317294|325024|325025|325033|325036|325043|325044|325045|331177|331185|331195|331196|331198|331199|331205|332695|332696|332701|373089|408669|434767|492451|504496|527182|547012|565485|566840|566841|576154|588750|609833|620443|641141|641142|641143|641144|656166|667102|713545|725111|738657|738659|738660|753393|760200|760202|769133|769135|769136|769138|775900|784395|787788|787806|787812|796775|799684|839964|839965|839966|869907|869908|869909|869910|869911|869912|869913|869914|869915|869916|869917|869918|869919|936135|936136|941033|941034|956886|960787|979283|979284|979285|979286|979287|981802|981803|981804|981805|981806", + "upstreamId": "16191|16192|16193|16194|16195|16196|16197|16198|187120|254568|254569|254570|254572|254580|254581|254585|254586|254587|317279|317280|317286|317287|317293|317294|325024|325025|325033|325036|325043|325044|325045|331177|331185|331195|331196|331198|331199|331205|332695|332696|332701|373089|408669|434767|492451|504496|527182|547012|565485|566840|566841|576154|588750|609833|620443|641141|641142|641143|641144|656166|667102|713545|725111|738657|738659|738660|753393|760200|760202|769133|769135|769136|769138|775900|784395|787788|787806|787812|796775|799684|839964|839965|839966|869907|869908|869909|869910|869911|869912|869913|869914|869915|869916|869917|869918|869919|936135|936136|941033|941034|956886|960787|979283|979284|979285|979286|979287|981802|981803|981804|981805|981806", "text": "Glycogen storage disease, type VII" }, { - "baseId": "16200|16200|16201|16202|47611|76621|134822|134822|134823|134823|186088|186088|189035|192927|192927|194463|212626|215376|221753|221753|240231|273689|304107|304116|304117|304117|304122|304124|304124|304132|307707|307707|307717|307719|307719|307723|307730|307730|307733|307735|307735|307738|307738|307739|312730|312745|312746|312746|312753|312759|312760|312761|312864|312865|312866|312868|312872|312875|312877|312877|312884|312885|312886|312886|312893|312899|312900|361439|361439|369691|371499|395886|396283|396284|425775|425775|441168|457793|457807|457807|457808|457808|458179|458181|486611|486611|489373|522977|522984|522989|523617|561941|562349|562351|564606|564611|564614|564620|564623|564630|567355|567356|567360|567360|622349|622385|622411|622417|622448|636577|636578|636579|636580|636581|636582|683972|683973|683974|683975|683976|683976|685233|685234|685236|687175|687181|687182|692345|722840|782989|796116|819944|834108|834109|834110|834111|834111|834112|834113|898806|898807|898808|898809|898810|898811|898812|898813|898814|898815|898816|898817|898818|898819|898820|898821|898822|900436|900437|900438|925008|925009|925010|925011|934087|934088|945849|955287", + "upstreamId": "16200|16200|16201|16202|47611|76621|134822|134822|134823|134823|186088|186088|189035|192927|192927|194463|212626|215376|221753|221753|240231|273689|304107|304116|304117|304117|304122|304124|304124|304132|307707|307707|307717|307719|307719|307723|307730|307730|307733|307735|307735|307738|307738|307739|312730|312745|312746|312746|312753|312759|312760|312761|312864|312865|312866|312868|312872|312875|312877|312877|312884|312885|312886|312886|312893|312899|312900|361439|361439|369691|371499|395886|396283|396284|425775|425775|441168|457793|457807|457807|457808|457808|458179|458181|486611|486611|489373|522977|522984|522989|523617|561941|562349|562351|564606|564611|564614|564620|564623|564630|567355|567356|567360|567360|622349|622385|622411|622417|622448|636577|636578|636579|636580|636581|636582|683972|683973|683974|683975|683976|683976|685233|685234|685236|687175|687181|687182|692345|722840|782989|796116|819944|834108|834109|834110|834111|834111|834112|834113|898806|898807|898808|898809|898810|898811|898812|898813|898814|898815|898816|898817|898818|898819|898820|898821|898822|900436|900437|900438|925008|925009|925010|925011|934087|934088|945849|955287", "text": "Hereditary spastic paraplegia 8" }, { - "baseId": "16200|97556|214760|214761|361439|396283|457793|458179|522977|522989|523617|561941|562349|562351|564606|564611|564614|564620|564623|564630|567355|567356|621019|636577|636579|636580|636581|636582|790780|970873", + "upstreamId": "16200|97556|214760|214761|361439|396283|457793|458179|522977|522989|523617|561941|562349|562351|564606|564611|564614|564620|564623|564630|567355|567356|621019|636577|636579|636580|636581|636582|790780|970873", "text": "Ritscher-Schinzel syndrome 1" }, { - "baseId": "16203", + "upstreamId": "16203", "text": "FACTOR XII (WASHINGTON D.C.)" }, { - "baseId": "16204", + "upstreamId": "16204", "text": "FACTOR XII (LOCARNO)" }, { - "baseId": "16205|16206|16207|16208|16209|227284|251868|251869|297104|297110|297117|297118|297132|297134|299039|299040|299041|299042|299043|299067|299070|303255|303259|303260|303268|303269|303284|303290|303292|303301|303307|303308|303438|303439|303440|303444|303445|353691|353692|893997|893998|893999|894000|894001|894002|894003|894004|894005|896080|896081|896082|896083|896084", + "upstreamId": "16205|16206|16207|16208|16209|227284|251868|251869|297104|297110|297117|297118|297132|297134|299039|299040|299041|299042|299043|299067|299070|303255|303259|303260|303268|303269|303284|303290|303292|303301|303307|303308|303438|303439|303440|303444|303445|353691|353692|893997|893998|893999|894000|894001|894002|894003|894004|894005|896080|896081|896082|896083|896084", "text": "Factor XII deficiency disease" }, { - "baseId": "16205|251868|297104|297110|299039|299040|299041|299042|303255|303259|303260|303268|303269|303435|303438", + "upstreamId": "16205|251868|297104|297110|299039|299040|299041|299042|303255|303259|303260|303268|303269|303435|303438", "text": "Nephrolithiasis/osteoporosis, hypophosphatemic" }, { - "baseId": "16205", + "upstreamId": "16205", "text": "F12-Related Disorders" }, { - "baseId": "16206", + "upstreamId": "16206", "text": "FACTOR XII POLYMORPHISM" }, { - "baseId": "16206|16207|16208|16208|16209|251868|251869|297117|297118|297132|297134|299041|299042|299043|299067|299070|303268|303269|303284|303290|303292|303301|303307|303308|303439|303440|303444|303445|390679|435195|700335|893997|893998|893999|894000|894001|894002|894003|894004|894005|896080|896081|896082|896083|896084|967291|971506|971507|971508|971509|971510", + "upstreamId": "16206|16207|16208|16208|16209|251868|251869|297117|297118|297132|297134|299041|299042|299043|299067|299070|303268|303269|303284|303290|303292|303301|303307|303308|303439|303440|303444|303445|390679|435195|700335|893997|893998|893999|894000|894001|894002|894003|894004|894005|896080|896081|896082|896083|896084|967291|971506|971507|971508|971509|971510", "text": "Hereditary angioedema type 3" }, { - "baseId": "16207", + "upstreamId": "16207", "text": "FACTOR XII (TENRI)" }, { - "baseId": "16208|251868|297104|297110|299039|299040|299041|299042|303255|303259|303260|303268|303269|303438|314325|353691|353692|581232", + "upstreamId": "16208|251868|297104|297110|299039|299040|299041|299042|303255|303259|303260|303268|303269|303438|314325|353691|353692|581232", "text": "Hereditary angioneurotic edema" }, { - "baseId": "16209|362153|417648|677237|677238|677239", + "upstreamId": "16209|362153|417648|677237|677238|677239", "text": "Angioedema" }, { - "baseId": "16209", + "upstreamId": "16209", "text": "Urticaria (disease)" }, { - "baseId": "16209|27320|168041|168042|168043|168044|168045|168046|168047|168048|168049|168050|168051|168052|206950|206951|206952", + "upstreamId": "16209|27320|168041|168042|168043|168044|168045|168046|168047|168048|168049|168050|168051|168052|206950|206951|206952", "text": "Hyperbilirubinemia" }, { - "baseId": "16209|35796|223747|250588|360836|360862|360987|360988|360989|360993|513923|514037|622024|622025|622026|622027", + "upstreamId": "16209|35796|223747|250588|360836|360862|360987|360988|360989|360993|513923|514037|622024|622025|622026|622027", "text": "Hypertensive disorder" }, { - "baseId": "16210|16212|16213|16214|16215|16216|16217|16218|16219|16220|16221|16222|16223|16224|16225|16226|44641|44645|44648|44649|44651|44653|44655|71453|71453|71454|71455|71456|71457|71458|88099|237358|304470|304472|304478|304479|304480|304485|304487|304491|304492|304495|304508|304509|304510|304511|304516|304518|304519|304520|304527|304528|304541|304542|308223|308224|308249|308254|308256|308261|308264|308270|308280|308281|308283|308284|308285|313236|313242|313245|313247|313248|313270|313277|313278|313281|313283|313285|313286|313297|313327|313328|313332|313333|313335|313338|313339|313341|313342|313343|313351|313359|313369|313381|313384|313398|313400|313404|428801|441176|441178|441179|513068|513069|544374|544381|544384|544387|544390|544392|544394|544396|544398|544651|544654|544659|544660|544661|544665|544673|544674|544676|544677|544678|544681|544685|544686|544688|544693|544694|544696|544696|544703|544705|544710|544712|544716|544718|544732|544735|544737|544738|544740|544741|544743|620294|695381|899026|899027|899028|899029|899030|899031|899032|899033|899034|899035|899036|899037|899038|899039|899040|899041|899042|899043|899044|899045|899046|899047|899048|899049|899050|899051|899052|899053|899054|899055|899056|899057|899058|899059|899060|899061|899062|899063|900452|900453|961817|961818|972009|972010|972011|983570|983571", + "upstreamId": "16210|16212|16213|16214|16215|16216|16217|16218|16219|16220|16221|16222|16223|16224|16225|16226|44641|44645|44648|44649|44651|44653|44655|71453|71453|71454|71455|71456|71457|71458|88099|237358|304470|304472|304478|304479|304480|304485|304487|304491|304492|304495|304508|304509|304510|304511|304516|304518|304519|304520|304527|304528|304541|304542|308223|308224|308249|308254|308256|308261|308264|308270|308280|308281|308283|308284|308285|313236|313242|313245|313247|313248|313270|313277|313278|313281|313283|313285|313286|313297|313327|313328|313332|313333|313335|313338|313339|313341|313342|313343|313351|313359|313369|313381|313384|313398|313400|313404|428801|441176|441178|441179|513068|513069|544374|544381|544384|544387|544390|544392|544394|544396|544398|544651|544654|544659|544660|544661|544665|544673|544674|544676|544677|544678|544681|544685|544686|544688|544693|544694|544696|544696|544703|544705|544710|544712|544716|544718|544732|544735|544737|544738|544740|544741|544743|620294|695381|899026|899027|899028|899029|899030|899031|899032|899033|899034|899035|899036|899037|899038|899039|899040|899041|899042|899043|899044|899045|899046|899047|899048|899049|899050|899051|899052|899053|899054|899055|899056|899057|899058|899059|899060|899061|899062|899063|900452|900453|961817|961818|972009|972010|972011|983570|983571", "text": "Deficiency of steroid 11-beta-monooxygenase" }, { - "baseId": "16210|16211|31916|44641|44645|44649|44651|44653|71453|304470|304472|304478|304479|304480|304484|304485|304487|304491|304492|304495|304508|304509|304510|304511|304516|304518|304519|304520|304527|304528|304541|304542|304547|304548|304552|304553|304554|304555|304569|304570|304571|304572|304573|304577|304580|304581|304583|304593|304594|304596|304598|304602|304605|308223|308224|308249|308254|308256|308261|308264|308270|308280|308281|308283|308284|308285|308289|308296|308310|308312|308315|308316|308321|308322|308323|313236|313241|313242|313245|313247|313248|313270|313277|313278|313281|313283|313285|313286|313297|313327|313328|313332|313333|313334|313335|313338|313339|313341|313342|313343|313344|313345|313346|313347|313348|313349|313350|313351|313355|313359|313361|313362|313369|313381|313384|313398|313400|313404|313407|313411|313418|313425|313428|313433|313445|313446|313448|313449|313454|313455|313456|313457|313462|313464|313467|313479|353825|428801|544674|544678|544696|620294|695381|711339|722896|750943|750948|766574|783007|899026|899027|899028|899029|899030|899031|899032|899033|899034|899035|899036|899037|899038|899039|899040|899041|899042|899043|899044|899045|899046|899047|899048|899049|899050|899051|899052|899053|899054|899055|899056|899057|899058|899059|899060|899061|899062|899063|899064|899065|899066|899067|899068|899069|899070|899071|899072|899073|899074|899075|899076|899077|899078|899079|899080|899081|899082|899083|899084|899085|899086|899087|900452|900453|900454|900455|919141|920251", + "upstreamId": "16210|16211|31916|44641|44645|44649|44651|44653|71453|304470|304472|304478|304479|304480|304484|304485|304487|304491|304492|304495|304508|304509|304510|304511|304516|304518|304519|304520|304527|304528|304541|304542|304547|304548|304552|304553|304554|304555|304569|304570|304571|304572|304573|304577|304580|304581|304583|304593|304594|304596|304598|304602|304605|308223|308224|308249|308254|308256|308261|308264|308270|308280|308281|308283|308284|308285|308289|308296|308310|308312|308315|308316|308321|308322|308323|313236|313241|313242|313245|313247|313248|313270|313277|313278|313281|313283|313285|313286|313297|313327|313328|313332|313333|313334|313335|313338|313339|313341|313342|313343|313344|313345|313346|313347|313348|313349|313350|313351|313355|313359|313361|313362|313369|313381|313384|313398|313400|313404|313407|313411|313418|313425|313428|313433|313445|313446|313448|313449|313454|313455|313456|313457|313462|313464|313467|313479|353825|428801|544674|544678|544696|620294|695381|711339|722896|750943|750948|766574|783007|899026|899027|899028|899029|899030|899031|899032|899033|899034|899035|899036|899037|899038|899039|899040|899041|899042|899043|899044|899045|899046|899047|899048|899049|899050|899051|899052|899053|899054|899055|899056|899057|899058|899059|899060|899061|899062|899063|899064|899065|899066|899067|899068|899069|899070|899071|899072|899073|899074|899075|899076|899077|899078|899079|899080|899081|899082|899083|899084|899085|899086|899087|900452|900453|900454|900455|919141|920251", "text": "Hyperaldosteronism, familial, type I" }, { - "baseId": "16218|16225|27193|44641|44642|44643|44644|44646|44647|44648|44649|44650|44651|44652|44653|44654|44655|44656|44657|44658|44659|44660|276415|276799|304484|308905|309342|313241|313334|314024|314138|314160|314161|319911|320450|975788", + "upstreamId": "16218|16225|27193|44641|44642|44643|44644|44646|44647|44648|44649|44650|44651|44652|44653|44654|44655|44656|44657|44658|44659|44660|276415|276799|304484|308905|309342|313241|313334|314024|314138|314160|314161|319911|320450|975788", "text": "Congenital adrenal hyperplasia" }, { - "baseId": "16227|45727|152813", + "upstreamId": "16227|45727|152813", "text": "Retinitis pigmentosa 36" }, { - "baseId": "16228", + "upstreamId": "16228", "text": "Coronary artery spasm 3, susceptibility to" }, { - "baseId": "16229|16230|16231|16232|16233|38590|39802|39803|39804|360853|514082", + "upstreamId": "16229|16230|16231|16232|16233|38590|39802|39803|39804|360853|514082", "text": "Anonychia" }, { - "baseId": "16234|16235|16236|16237|53012|53013|53016|174282|174283|174422|192270|229303|229307|271525|275022|297985|297986|297987|297991|300184|300185|300187|300190|300193|300194|300195|300201|304395|304402|304403|304409|304720|304725|304741|304746|304748|404768|496825|894616|894617|894618|894619|894620|894621|894622|894623|894624|894625|894626|894627|894628|896126", + "upstreamId": "16234|16235|16236|16237|53012|53013|53016|174282|174283|174422|192270|229303|229307|271525|275022|297985|297986|297987|297991|300184|300185|300187|300190|300193|300194|300195|300201|304395|304402|304403|304409|304720|304725|304741|304746|304748|404768|496825|894616|894617|894618|894619|894620|894621|894622|894623|894624|894625|894626|894627|894628|896126", "text": "Deafness, autosomal recessive 49" }, { - "baseId": "16237", + "upstreamId": "16237", "text": "Deafness, neurosensory, autosomal recessive 49" }, { - "baseId": "16239|16240|211198|513281", + "upstreamId": "16239|16240|211198|513281", "text": "Coenzyme Q10 deficiency, primary, 3" }, { - "baseId": "16241|16242|16243|16244|16245|16246|16247|16248|16249|16250|253866|253867|253868|253869|253870|253871|253872|264435|268603|311254|311258|311263|311270|311271|311276|311281|311293|316667|316689|316690|316692|316693|316699|316710|316711|316724|316727|316742|316745|316746|316747|316749|316750|316762|316765|316770|316772|316775|322697|322698|322716|322718|322719|322735|322741|322748|322750|322751|322753|322755|322759|322764|322765|323404|323406|323415|323418|323419|323429|323430|323431|323432|323433|359871|407916|407917|415233|421802|425217|425218|460173|460972|525437|525521|525524|525662|525664|525798|563966|564749|566512|566516|566520|569772|569774|639182|639183|639184|701448|837334|837335|837336|837337|837338|866353|866354|866355|866356|866357|866358|866359|866360|866361|866362|866363|866364|866365|866366|866367|866368|866369|866370|866371|866372|866373|866374|866375|866376|866377|866378|866379|866380|866381|868514|868515|868516|925943|935190|959946", + "upstreamId": "16241|16242|16243|16244|16245|16246|16247|16248|16249|16250|253866|253867|253868|253869|253870|253871|253872|264435|268603|311254|311258|311263|311270|311271|311276|311281|311293|316667|316689|316690|316692|316693|316699|316710|316711|316724|316727|316742|316745|316746|316747|316749|316750|316762|316765|316770|316772|316775|322697|322698|322716|322718|322719|322735|322741|322748|322750|322751|322753|322755|322759|322764|322765|323404|323406|323415|323418|323419|323429|323430|323431|323432|323433|359871|407916|407917|415233|421802|425217|425218|460173|460972|525437|525521|525524|525662|525664|525798|563966|564749|566512|566516|566520|569772|569774|639182|639183|639184|701448|837334|837335|837336|837337|837338|866353|866354|866355|866356|866357|866358|866359|866360|866361|866362|866363|866364|866365|866366|866367|866368|866369|866370|866371|866372|866373|866374|866375|866376|866377|866378|866379|866380|866381|868514|868515|868516|925943|935190|959946", "text": "Hepatic methionine adenosyltransferase deficiency" }, { - "baseId": "16251|21188|30977|30993|30995|30999|138212|336004|336005|336007|336014|336016|336017|336021|336026|336027|336030|336035|336044|336045|336051|336052|336060|336069|336070|336074|336075|336076|336086|336088|336091|345757|345767|345770|345777|345781|345782|345785|345787|345790|345794|345805|345806|345808|345819|345821|345822|345831|350232|350234|350238|350240|350242|350244|350245|350246|350247|350250|350251|350254|350255|350257|350258|350261|350262|350265|350266|350269|350270|350273|350276|350278|351284|351287|351288|351291|351293|351297|351298|351301|351302|351305|351306|361065|610611|613921|742476|861666|886402|886403|886404|886405|886406|886407|886408|886409|886410|886411|886412|886413|886414|886415|886416|886417|886418|886419|886420|886421|886422|886423|886424|886425|886426|886427|886428|886429|886430|886431|886432|886433|886434|886435|886436|886437|886438|886439|886440|886441|886442|919922|919923|920083|920111|966169|971151", + "upstreamId": "16251|21188|30977|30993|30995|30999|138212|336004|336005|336007|336014|336016|336017|336021|336026|336027|336030|336035|336044|336045|336051|336052|336060|336069|336070|336074|336075|336076|336086|336088|336091|345757|345767|345770|345777|345781|345782|345785|345787|345790|345794|345805|345806|345808|345819|345821|345822|345831|350232|350234|350238|350240|350242|350244|350245|350246|350247|350250|350251|350254|350255|350257|350258|350261|350262|350265|350266|350269|350270|350273|350276|350278|351284|351287|351288|351291|351293|351297|351298|351301|351302|351305|351306|361065|610611|613921|742476|861666|886402|886403|886404|886405|886406|886407|886408|886409|886410|886411|886412|886413|886414|886415|886416|886417|886418|886419|886420|886421|886422|886423|886424|886425|886426|886427|886428|886429|886430|886431|886432|886433|886434|886435|886436|886437|886438|886439|886440|886441|886442|919922|919923|920083|920111|966169|971151", "text": "Pseudohypoparathyroidism type 1B" }, { - "baseId": "16252", + "upstreamId": "16252", "text": "Memory quantitative trait locus" }, { - "baseId": 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+ "upstreamId": "16253|16254|16255|16256|34577|34578|166128|283866|302509|302514|302515|302520|302523|302525|302529|302533|302538|302539|302544|302545|302546|302547|302551|302553|305782|305783|305792|305794|305816|305818|305836|305845|305847|305849|305876|305881|305883|305884|305886|305887|305888|305898|305901|305902|305903|305918|305920|305923|305930|310584|310585|310591|310597|310598|310601|310605|310608|310616|310620|310621|310628|310629|310634|310638|310639|310647|310648|310649|310652|310821|310823|310824|310828|310836|310840|310861|310863|310872|310876|310888|310894|310896|310898|310900|310913|364075|421629|425747|457036|457671|522844|522846|561146|561865|622887|687036|687037|687038|687039|692215|692216|700003|736078|782834|782836|833493|897872|897873|897874|897875|897876|897877|897878|897879|897880|897881|897882|897883|897884|897885|897886|897887|897888|897889|897890|897891|897892|897893|897894|897895|897896|897897|897898|897899|897900|897901|897902|897903|897904|897905|897906|897907|897908|897909|900345|900346|900347|900348", "text": "Hypomyelination and Congenital Cataract" }, { - "baseId": 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+ "upstreamId": "16257|16258|16259|16260|39790|39791|77000|77001|79917|133912|133912|133913|133913|133914|133915|133916|133916|133917|133918|133918|133919|133920|133921|133921|133922|133923|133924|133925|133925|152914|191276|191276|205722|205723|206728|206728|206730|206730|249528|249528|249529|249529|277295|277296|277299|277305|277309|277309|277311|277312|277313|277323|277326|277326|277328|277331|277331|277332|277347|277510|277511|277511|277512|277512|277520|277520|277530|277530|277532|277539|277544|277544|277547|277547|277550|277550|277552|277554|277554|278365|278366|278367|278370|278375|278380|278381|278381|278382|278382|278387|278388|278389|278390|278390|278392|278392|278393|278393|278394|278396|278400|278402|278410|278410|278413|278413|278414|278414|278416|278429|364534|434562|437799|447270|447277|447278|447279|447369|447410|447418|447421|447430|447466|447466|447469|447471|447476|447484|485986|492028|515262|515264|515265|515265|515274|515276|515306|515315|515351|515352|515354|536569|536569|537080|549502|556682|556684|556686|556688|556737|556737|556739|556741|557034|557036|557038|558222|558224|558226|558228|558230|558232|558234|576078|576078|576438|576441|578778|578784|578790|578790|578793|578794|578794|578803|578803|578804|578804|578811|578811|584195|584195|614196|614196|614197|614198|614199|614200|619965|619966|627059|627060|627061|627062|627063|627064|627065|627066|627067|627068|627069|627070|627071|627072|627073|627074|627075|627076|627076|650536|650592|677123|690409|690409|690412|690412|690415|690416|695016|695017|695019|695019|696253|696254|696256|696258|696261|718381|729937|731862|789877|794490|794490|822980|822981|822982|822983|822984|822985|822986|822987|822988|822989|822990|822991|822992|851237|858872|861588|861603|862754|862755|862756|862757|862758|862759|862760|862761|862762|862763|862764|862765|862766|862767|862768|862769|862770|862771|862772|862772|862773|862774|862775|865029|865030|865031|921739|921740|921741|930152|930153|930154|930155|941568|941569|941570|941571|941572|952138|952139|966155", "text": "Kufor-Rakeb syndrome" }, { - "baseId": "16261|16261|16262|16262|16263|16264|16265|16266|101278|101279|101280|101281|101282|101282|101285|101285|101286|101286|101287|101287|101288|101288|177167|177299|177299|177431|194946|194946|195702|257332|257332|257333|257333|257335|257335|271293|271293|334835|334840|344709|344711|344713|344715|344715|349690|349693|349695|349695|349696|349696|349698|349701|349702|350689|350690|350690|350692|471367|533466|534028|571157|572868|575077|575077|620652|620653|648587|648588|648589|653118|653191|695841|695841|695842|695842|695843|695845|705393|705394|705395|705395|716866|757387|773012|800168|801196|848233|848234|852898|885829|885830|885831|885832|885833|885834|885835|885836|885837|885838|885839|885840|885841|885842|887428|919906|919907|958790", + "upstreamId": "16261|16261|16262|16262|16263|16264|16265|16266|101278|101279|101280|101281|101282|101282|101285|101285|101286|101286|101287|101287|101288|101288|177167|177299|177299|177431|194946|194946|195702|257332|257332|257333|257333|257335|257335|271293|271293|334835|334840|344709|344711|344713|344715|344715|349690|349693|349695|349695|349696|349696|349698|349701|349702|350689|350690|350690|350692|471367|533466|534028|571157|572868|575077|575077|620652|620653|648587|648588|648589|653118|653191|695841|695841|695842|695842|695843|695845|705393|705394|705395|705395|716866|757387|773012|800168|801196|848233|848234|852898|885829|885830|885831|885832|885833|885834|885835|885836|885837|885838|885839|885840|885841|885842|887428|919906|919907|958790", "text": "Congenital dyserythropoietic anemia, type II" }, { - "baseId": "16261|16262|101282|101285|101286|101287|101287|101288|177299|194946|226247|257332|257333|257335|271293|344715|349695|349696|350690|533466|534028|571157|572868|575077|648587|648588|648589|653118|653191|695841|695842|695843|695845|705394|705395|716866|757387|848233|848234|852898|958790", + "upstreamId": "16261|16262|101282|101285|101286|101287|101287|101288|177299|194946|226247|257332|257333|257335|271293|344715|349695|349696|350690|533466|534028|571157|572868|575077|648587|648588|648589|653118|653191|695841|695842|695843|695845|705394|705395|716866|757387|848233|848234|852898|958790", "text": "Cowden syndrome 7" }, { - "baseId": "16267|48120|464037|572784|702868|725663|725664|739207|739208|779716|779719|920332", + "upstreamId": "16267|48120|464037|572784|702868|725663|725664|739207|739208|779716|779719|920332", "text": "Craniolenticulosutural dysplasia" }, { - "baseId": "16268|227312|227313|544362|544363|544365|544372|544646|544648|544727|544729|544731|622382|917580", + "upstreamId": "16268|227312|227313|544362|544363|544365|544372|544646|544648|544727|544729|544731|622382|917580", "text": "Tumoral calcinosis, familial, normophosphatemic" }, { - "baseId": 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+ "upstreamId": 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"text": "Mucopolysaccharidosis, MPS-III-C" }, { - "baseId": 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"16269|16270|16271|16275|16276|39789|102394|102396|176990|177253|205375|205376|205376|205377|205377|259899|305409|309255|309255|314506|314515|314517|314589|314592|314595|314597|314601|407394|415132|488261|495386|523172|523582|539012|544423|544754|544772|544782|544833|544843|562427|562958|565143|567933|621282|637223|637224|637225|637226|637227|711544|711545|711546|711547|711548|723110|723111|723112|723113|723114|723115|730577|736686|736687|744365|751172|751173|751175|751176|751177|751178|766827|766828|766831|766832|775276|783117|787737|819962|819963|819964|819965|819966|819967|834781|834782|834783|834784|834785|834786|834786|834787|834788|834789|834790|834791|834792|834793|834794|834795|899648|915033|919158|925209|934318|934319|934320|934321|934322|934323|940105|940106|946077|946078|946079|946080|946081|946082|946083|946084|946085|946086|955422|955423|955424|955425|955426|955427|955427|955428|955429|955430|962889|962890|962891|962892|962893", "text": "Retinitis pigmentosa 73" }, { - "baseId": "16269|16275|20146|20150|39416|39752|39789|102394|195855|259899|265225|309255|309284|314503|314556|318311|326267|326268|326347|328513|332578|332641|334163|334224|338454|338457|338462|338481|344536|344539|344543|344545|345940|345941|345945|346332|346359|347721|358524|487839|544423|544781|562427|915033", + "upstreamId": "16269|16275|20146|20150|39416|39752|39789|102394|195855|259899|265225|309255|309284|314503|314556|318311|326267|326268|326347|328513|332578|332641|334163|334224|338454|338457|338462|338481|344536|344539|344543|344545|345940|345941|345945|346332|346359|347721|358524|487839|544423|544781|562427|915033", "text": "Sanfilippo syndrome" }, { - "baseId": "16276|16601|16604|16605|20146|20147|20150|39416|247363|264874|508893|513465|548897|620589|818746|818747|818748|818749", + "upstreamId": "16276|16601|16604|16605|20146|20147|20150|39416|247363|264874|508893|513465|548897|620589|818746|818747|818748|818749", "text": "Mucopolysaccharidosis" }, { - "baseId": "16278|980437", + "upstreamId": "16278|980437", "text": "Immunodeficiency due to defect in mapbp-interacting protein" }, { - "baseId": "16279|102123|102124|192553|256893|333267|333275|333277|333278|333282|333283|333284|343367|343371|343378|343379|343382|343383|343385|348648|348651|348658|348659|348661|348664|348665|348666|348673|348675|348678|348679|349718|349721|349722|349728|349729|349731|349732|349735|847554|880387|880388|880389|880390|880391|880392|880393|880394|880395|880396|880397|880398|880399|880400|880401|880402|880403|880404|880405|880406|880407|880408|880409|880410|880411|880412|880413|880742", + "upstreamId": "16279|102123|102124|192553|256893|333267|333275|333277|333278|333282|333283|333284|343367|343371|343378|343379|343382|343383|343385|348648|348651|348658|348659|348661|348664|348665|348666|348673|348675|348678|348679|349718|349721|349722|349728|349729|349731|349732|349735|847554|880387|880388|880389|880390|880391|880392|880393|880394|880395|880396|880397|880398|880399|880400|880401|880402|880403|880404|880405|880406|880407|880408|880409|880410|880411|880412|880413|880742", "text": "Age-related macular degeneration 6" }, { - "baseId": "16279|16280|16281|102123|102124|192553|204391|256893|333267|333275|333277|333278|333282|333283|333284|343367|343371|343378|343379|343382|343383|343385|348648|348651|348658|348659|348661|348664|348665|348666|348673|348675|348678|348679|349718|349721|349722|349728|349729|349731|349732|349735|590329|623353|880387|880388|880389|880390|880391|880392|880393|880394|880395|880396|880397|880398|880399|880400|880401|880402|880403|880404|880405|880406|880407|880408|880409|880410|880411|880412|880413|880742", + "upstreamId": "16279|16280|16281|102123|102124|192553|204391|256893|333267|333275|333277|333278|333282|333283|333284|343367|343371|343378|343379|343382|343383|343385|348648|348651|348658|348659|348661|348664|348665|348666|348673|348675|348678|348679|349718|349721|349722|349728|349729|349731|349732|349735|590329|623353|880387|880388|880389|880390|880391|880392|880393|880394|880395|880396|880397|880398|880399|880400|880401|880402|880403|880404|880405|880406|880407|880408|880409|880410|880411|880412|880413|880742", "text": "Cone-rod dystrophy 11" }, { - "baseId": "16282|16283|16284|16285|132077|132081|132088|132090|132092|132102|132103|132114|132118|132123|132124|132140|132147|132161|132171|132179|132182|132191|132191|132192|132193|132201|132204|132208|132208|132209|132218|132225|132237|132237|132240|132244|132250|132251|132255|132258|132268|132271|132278|132286|132288|132290|132291|133574|133576|133587|133590|133593|133601|133601|139840|142278|150970|151242|151249|151423|151688|153698|180735|180736|180742|180754|184177|184202|184207|184211|184213|184235|184239|184249|184286|186212|186220|186222|213153|214572|235150|235197|235209|235265|235280|242367|242396|334406|334409|342534|374972|377394|389266|389283|401785|466261|466269|466348|477581|478191|482931|484720|812845|818451|818569|818570|874991|874992|874993", + "upstreamId": "16282|16283|16284|16285|132077|132081|132088|132090|132092|132102|132103|132114|132118|132123|132124|132140|132147|132161|132171|132179|132182|132191|132191|132192|132193|132201|132204|132208|132208|132209|132218|132225|132237|132237|132240|132244|132250|132251|132255|132258|132268|132271|132278|132286|132288|132290|132291|133574|133576|133587|133590|133593|133601|133601|139840|142278|150970|151242|151249|151423|151688|153698|180735|180736|180742|180754|184177|184202|184207|184211|184213|184235|184239|184249|184286|186212|186220|186222|213153|214572|235150|235197|235209|235265|235280|242367|242396|334406|334409|342534|374972|377394|389266|389283|401785|466261|466269|466348|477581|478191|482931|484720|812845|818451|818569|818570|874991|874992|874993", "text": "Fanconi anemia, complementation group N" }, { - "baseId": 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"text": "Familial cancer of breast" }, { - "baseId": "16284|132182|132221|132239|132267|153702", + "upstreamId": "16284|132182|132221|132239|132267|153702", "text": "PALB2-Related Disorders" }, { - "baseId": "16292|16293|16294|16295|16296|16297|16298|191720|266317|267759|268769|272369|272443|274096|365079|365080|365083|365084|365092|365163|365167|365174|365182|365254|365272|414799|421243|433768|433769|433772|433773|442843|447899|447903|447904|447910|447911|448048|448050|448057|448060|448065|448071|448080|448116|448118|448123|448126|448129|448132|448136|448197|448199|448209|448225|448227|448229|488684|492430|498470|513014|513243|515869|515872|515882|515889|515890|515894|515895|515898|515924|515927|515931|515935|515940|515995|515997|538947|557057|557266|557268|557270|557319|557321|557323|557325|557327|557329|557331|558511|558513|558515|623234|627843|627844|627845|627846|627847|627848|627849|627850|627851|627852|627853|627854|627855|627856|627857|627858|627859|627860|650661|650662|650751|685732|690598|690599|690600|690602|696745|707412|732456|788738|799220|823967|823968|823969|823970|823971|823972|823973|823974|823975|823976|823977|823978|823979|823980|851301|864414|864415|864417|864418|864420|864423|864425|864426|864427|864428|864429|864432|864434|922018|922019|922020|922021|922022|930487|930488|930489|939813|941941|941942|941943|941944|952412|952413|970168|970691|970692|981323|981324|981325|981326|981327", + "upstreamId": 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"text": "Osteogenesis imperfecta type 8" }, { - "baseId": "16299|16300|199797|199798|254245|314553|314559|314560|314570|314576|314582|314583|314586|314590|314591|314598|314599|321252|321253|321258|321259|321260|321268|321270|321272|321273|321280|321282|321285|321287|327403|327413|327420|327432|327435|327436|327440|327456|327457|327461|327463|328458|328462|328463|328466|328481|328482|328492|328493|328501|328502|328506|328512|361534|439163|461348|566056|566066|570828|624449|640325|640326|640327|738150|784090|838758|838759|838760|838761|868264|868265|868266|868267|868268|868269|868270|868271|868272|868273|868274|868275|868276|868277|868671|926343|935689|935690|947581|947582|947583|947584|969709|971504", + "upstreamId": "16299|16300|199797|199798|254245|314553|314559|314560|314570|314576|314582|314583|314586|314590|314591|314598|314599|321252|321253|321258|321259|321260|321268|321270|321272|321273|321280|321282|321285|321287|327403|327413|327420|327432|327435|327436|327440|327456|327457|327461|327463|328458|328462|328463|328466|328481|328482|328492|328493|328501|328502|328506|328512|361534|439163|461348|566056|566066|570828|624449|640325|640326|640327|738150|784090|838758|838759|838760|838761|868264|868265|868266|868267|868268|868269|868270|868271|868272|868273|868274|868275|868276|868277|868671|926343|935689|935690|947581|947582|947583|947584|969709|971504", "text": "Aicardi Goutieres syndrome 3" }, { - "baseId": "16299|40348|67271|181292|214847|244018|389153|536164|567199|581716|590734|612486|626060|626270|626445|626446|676962|676969|679673|679675|679676|679677|679679|679680|679681|679682|679683|679685|679686|679688|679689|682748|682758|789258|802086|802087|802089|802095|805083|805137|964209|964234|964287|964300|964342|964380|964452|964478|964522|964597|964679|971283|983454|983680|983681", + "upstreamId": "16299|40348|67271|181292|214847|244018|389153|536164|567199|581716|590734|612486|626060|626270|626445|626446|676962|676969|679673|679675|679676|679677|679679|679680|679681|679682|679683|679685|679686|679688|679689|682748|682758|789258|802086|802087|802089|802095|805083|805137|964209|964234|964287|964300|964342|964380|964452|964478|964522|964597|964679|971283|983454|983680|983681", "text": "Neurodevelopmental delay" }, { - "baseId": "16301|16302|188848|227352|254859|270631|319927|319929|319933|319935|319936|319937|319941|319944|319948|328473|328475|328476|328483|334977|334980|336819|336831|336834|360007|373859|527818|528154|528317|566169|567722|568619|568621|568625|577339|620473|642018|642019|642020|642021|642022|642023|642024|642025|642026|642027|642028|652296|652377|652406|652842|693393|693394|695602|702720|739065|769587|840978|840979|858760|871398|871399|871400|871401|871402|871403|871404|871405|871406|871407|871408|871409|871410|926940|926941|926942|936478|940292|948406|948407|957119|970145|980473", + "upstreamId": "16301|16302|188848|227352|254859|270631|319927|319929|319933|319935|319936|319937|319941|319944|319948|328473|328475|328476|328483|334977|334980|336819|336831|336834|360007|373859|527818|528154|528317|566169|567722|568619|568621|568625|577339|620473|642018|642019|642020|642021|642022|642023|642024|642025|642026|642027|642028|652296|652377|652406|652842|693393|693394|695602|702720|739065|769587|840978|840979|858760|871398|871399|871400|871401|871402|871403|871404|871405|871406|871407|871408|871409|871410|926940|926941|926942|936478|940292|948406|948407|957119|970145|980473", "text": "Aicardi Goutieres syndrome 2" }, { - "baseId": "16301|39562|76972|102135|102136|131928|251190|265435|290894|290897|291832|291833|291841|295022|295410|295418|295421|295439|328464|328494|328502|328506|334944|335369|345200|348153|349391|349941|441638|571210|648644|648648|648656|731341|757494|757496|757497|757501|773096|780209|848369|848379|980019|980020", + "upstreamId": "16301|39562|76972|102135|102136|131928|251190|265435|290894|290897|291832|291833|291841|295022|295410|295418|295421|295439|328464|328494|328502|328506|334944|335369|345200|348153|349391|349941|441638|571210|648644|648648|648656|731341|757494|757496|757497|757501|773096|780209|848369|848379|980019|980020", "text": "Aicardi Goutieres syndrome" }, { - "baseId": "16303|16304|16306|16307|34717|102516|102517|102518|102520|102521|102522|102523|177276|177503|177504|191110|254845|265391|268147|373338|413358|413359|429488|445137|489314|489420|535721|567225|572250|585857|641632|688158|693349|695595|702661|702662|725450|753782|820551|840619|840620|840621|840622|871000|871001|871002|871003|871004|871005|871006|871007|871008|871009|871010|871011|871012|871013|871014|871015|871016|871017|871018|871019|871020|871021|871022|871023|871024|871025|871026|871027|871028|871029|871030|871031|871032|871033|871034|871035|871036|871037|871038|871039|871040|871041|871042|871043|871044|871045|871046|871047|871048|871049|871050|871051|871052|871053|871054|871055|871056|871057|871058|871059|871060|871061|871062|871063|871064|871065|871066|871067|871068|871069|872323|872324|872325|926823|976015", + "upstreamId": "16303|16304|16306|16307|34717|102516|102517|102518|102520|102521|102522|102523|177276|177503|177504|191110|254845|265391|268147|373338|413358|413359|429488|445137|489314|489420|535721|567225|572250|585857|641632|688158|693349|695595|702661|702662|725450|753782|820551|840619|840620|840621|840622|871000|871001|871002|871003|871004|871005|871006|871007|871008|871009|871010|871011|871012|871013|871014|871015|871016|871017|871018|871019|871020|871021|871022|871023|871024|871025|871026|871027|871028|871029|871030|871031|871032|871033|871034|871035|871036|871037|871038|871039|871040|871041|871042|871043|871044|871045|871046|871047|871048|871049|871050|871051|871052|871053|871054|871055|871056|871057|871058|871059|871060|871061|871062|871063|871064|871065|871066|871067|871068|871069|872323|872324|872325|926823|976015", "text": "Peters plus syndrome" }, { - "baseId": "16308", + "upstreamId": "16308", "text": "Association with systemic lupus erythematosus" }, { - "baseId": "16309|16310|16311|221934|397304|397474|475211|475220|475221|475245", + "upstreamId": "16309|16310|16311|221934|397304|397474|475211|475220|475221|475245", "text": "Colorectal cancer 1" }, { - "baseId": 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+ "upstreamId": "16312|16312|16313|16313|16314|16315|16315|16316|16317|16318|16319|16321|16321|134353|134356|134357|134359|134360|134362|134364|193756|193758|195784|195785|195786|195788|195789|205737|205737|205738|205738|207118|246964|251442|251449|251450|251451|251468|251469|251470|251471|265661|265854|267408|269333|269335|270556|359625|406429|406430|406431|421486|421486|428295|428296|440848|443612|443613|443614|452822|453125|453129|453131|453133|453135|453137|453138|453147|453149|453390|453395|453397|453498|453503|453506|453519|453527|453610|453881|453888|453891|453895|453896|453896|453905|453907|500822|513273|519878|519881|519887|519888|519891|519892|519896|519897|519901|519902|519904|519912|520134|520136|520142|520144|520147|520166|520170|520174|520175|535238|535270|538369|538369|552078|552079|552079|559659|559661|559663|559665|559667|559669|559671|559822|559824|559826|559828|559830|561997|561998|562001|563662|563663|563667|563675|563681|632159|632160|632161|632162|632163|632164|632165|632166|632167|632168|632169|632170|632171|632172|632173|632174|632175|632176|632177|632178|632179|632180|632181|632182|632183|632184|632185|632186|632187|632188|632189|632190|632191|632192|632193|651111|676959|689753|689754|691550|691551|691553|691554|691555|691556|691560|691561|691562|695230|695231|695232|695234|698498|698499|698500|720950|720951|730286|748925|748929|764453|764456|777445|792748|792749|800954|801607|819479|819480|829074|829075|829076|829077|829078|829079|829080|829081|829082|829083|829084|829085|829086|829087|829088|829089|829090|829091|829092|829093|829094|829095|829096|829097|829098|829099|850984|851498|851602|923493|923494|923495|923496|923497|923498|923499|923500|923501|923502|932297|932298|932299|932300|932301|932302|932303|932304|932305|943961|943962|943963|943964|943965|943966|953762|953763|959722|959723|960536", "text": "Myasthenia, limb-girdle, familial" }, { - "baseId": 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+ "upstreamId": 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"text": "Congenital myasthenic syndrome" }, { - "baseId": 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"text": "Pena-Shokeir syndrome type I" }, { - "baseId": "16313|251471|443612", + "upstreamId": "16313|251471|443612", "text": "Fetal akinesia deformation sequence 3" }, { - "baseId": "16322|190079|190080|190081|190633|371851|372605|372869|374641|421908|461651|461865|462211|503563|526694|526695|526698|526712|526941|527267|565087|565089|640658|640659|640660|640661|640662|640663|640664|713388|713389|724948|738502|753162|779751|784291|839359|839360|839362|839363|839364|839365|839366|839367|839368|839369|850699|851931|926479|926480|926481|935931|935932|935933|947800|947801|947802|947803|947804|947805|947806|956762", + "upstreamId": "16322|190079|190080|190081|190633|371851|372605|372869|374641|421908|461651|461865|462211|503563|526694|526695|526698|526712|526941|527267|565087|565089|640658|640659|640660|640661|640662|640663|640664|713388|713389|724948|738502|753162|779751|784291|839359|839360|839362|839363|839364|839365|839366|839367|839368|839369|850699|851931|926479|926480|926481|935931|935932|935933|947800|947801|947802|947803|947804|947805|947806|956762", "text": "Combined immunodeficiency due to ORAI1 deficiency" }, { - "baseId": "16323|16324|16325|16326|39778|139380|194475|227472|272473|273439|280357|280358|280363|280364|280367|280368|280727|280730|280731|280732|282057|282060|282061|282062|282075|282076|282077|282082|282171|282179|282186|282188|365211|365212|405151|414791|442807|442808|498391|538334|552184|614216|682814|732359|858941|864284|864285|864286|864287|864288|864289|864290|864291|864292|864293|864294|864295|864296|864297|865175", + "upstreamId": "16323|16324|16325|16326|39778|139380|194475|227472|272473|273439|280357|280358|280363|280364|280367|280368|280727|280730|280731|280732|282057|282060|282061|282062|282075|282076|282077|282082|282171|282179|282186|282188|365211|365212|405151|414791|442807|442808|498391|538334|552184|614216|682814|732359|858941|864284|864285|864286|864287|864288|864289|864290|864291|864292|864293|864294|864295|864296|864297|865175", "text": "Hyperphosphatasia with mental retardation syndrome 1" }, { - "baseId": "16323|270363|282089|353102|513588|654540", + "upstreamId": "16323|270363|282089|353102|513588|654540", "text": "Hyperphosphatasia-intellectual disability syndrome" }, { - "baseId": "16327|190662|495084|583330|622442|626982|626983|650550|696204|952114", + "upstreamId": "16327|190662|495084|583330|622442|626982|626983|650550|696204|952114", "text": "Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency" }, { - "baseId": "16328|136231|136232|136233|222007|240895|311846|311848|311849|311850|311861|311862|311863|311864|311869|311872|311873|311874|311875|317461|317478|317486|317487|317491|323498|323501|323504|323506|323509|323511|323512|324135|324137|324140|324143|324149|324152|324163|324170|324172|324174|324176|324192|324193|324194|324202|837570|866674|866675|866676|866677|866678|866679|866680|866681|866682|866683|866684|866685|866686|866687|866688|866689|866690|866691|866692|866693|866694|866695|868547|868548|868549|919310", + "upstreamId": "16328|136231|136232|136233|222007|240895|311846|311848|311849|311850|311861|311862|311863|311864|311869|311872|311873|311874|311875|317461|317478|317486|317487|317491|323498|323501|323504|323506|323509|323511|323512|324135|324137|324140|324143|324149|324152|324163|324170|324172|324174|324176|324192|324193|324194|324202|837570|866674|866675|866676|866677|866678|866679|866680|866681|866682|866683|866684|866685|866686|866687|866688|866689|866690|866691|866692|866693|866694|866695|868547|868548|868549|919310", "text": "Spastic paraplegia 33, autosomal dominant" }, { - "baseId": "16328|971426", + "upstreamId": "16328|971426", "text": "Spastic tetraparesis" }, { - "baseId": "16329", + "upstreamId": "16329", "text": "Deafness, mitochondrial, modifier of" }, { - "baseId": "16329|16330|16331|16332|16333|39776|39777|141411|141412|141413|141414|141416|141417|141418|141419|141420|141422|141423|141424|191073|211945|211946|211948|211950|211951|211954|211955|211956|213662|271100|338448|338450|338451|338452|338459|338463|338464|338467|338470|338473|338476|348064|348068|348069|348071|348073|348075|348079|348082|348087|351775|351781|351783|351784|351785|351787|351788|352639|352640|352641|352642|352643|352644|352645|352646|352647|352648|352649|352650|379866|415721|434687|491567|549073|549077|549079|552233|584105|584342|587178|620695|773591|776754|776834|786618|788096|798773|849393|891429|891430|891431|891432|891433|891434|891435|891436|891437|891851|891852|961793|980058|980059|980060|980061|980062", + "upstreamId": "16329|16330|16331|16332|16333|39776|39777|141411|141412|141413|141414|141416|141417|141418|141419|141420|141422|141423|141424|191073|211945|211946|211948|211950|211951|211954|211955|211956|213662|271100|338448|338450|338451|338452|338459|338463|338464|338467|338470|338473|338476|348064|348068|348069|348071|348073|348075|348079|348082|348087|351775|351781|351783|351784|351785|351787|351788|352639|352640|352641|352642|352643|352644|352645|352646|352647|352648|352649|352650|379866|415721|434687|491567|549073|549077|549079|552233|584105|584342|587178|620695|773591|776754|776834|786618|788096|798773|849393|891429|891430|891431|891432|891433|891434|891435|891436|891437|891851|891852|961793|980058|980059|980060|980061|980062", "text": "Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins" }, { - "baseId": "16334", + "upstreamId": "16334", "text": "Seborrhea-like dermatitis with psoriasiform elements" }, { - "baseId": "16335|45584|141330|361330|581733|792816", + "upstreamId": "16335|45584|141330|361330|581733|792816", "text": "Macrocephaly, alopecia, cutis laxa, and scoliosis" }, { - "baseId": "16336|16337|16338|16339|16340|16341|16342|53037|53039|53040|53041|53042|172797|172799|172937|228548|273171|275039|283174|283175|283184|283186|283190|283901|283903|283904|285666|285668|285673|285674|285676|286059|286066|286071|353548|490780|553250|881714|881715|881716|881717|881718|881719|881720|881721", + "upstreamId": "16336|16337|16338|16339|16340|16341|16342|53037|53039|53040|53041|53042|172797|172799|172937|228548|273171|275039|283174|283175|283184|283186|283190|283901|283903|283904|285666|285668|285673|285674|285676|286059|286066|286071|353548|490780|553250|881714|881715|881716|881717|881718|881719|881720|881721", "text": "Deafness, autosomal recessive 59" }, { - "baseId": "16343|16344|16345|16346|16347|16348|16349|16350|205190|227410|654900|980967", + "upstreamId": "16343|16344|16345|16346|16347|16348|16349|16350|205190|227410|654900|980967", "text": "Corneal endothelial dystrophy" }, { - "baseId": "16346|16351|16352|16353|16354|16355|16356|16357|16358|257347|335150|335155|335160|335162|344936|344949|344951|349799|350819|350823|350828|350829|350833|513381|705428|705429|705430|705432|716899|716900|716901|728589|742316|742318|742319|742320|742324|745107|757418|757421|757423|757425|757426|760649|760946|773037|773038|773040|773041|773048|773052|773054|773055|776769|780043|786336|786348|793835|793836|885959|980017|980018", + "upstreamId": "16346|16351|16352|16353|16354|16355|16356|16357|16358|257347|335150|335155|335160|335162|344936|344949|344951|349799|350819|350823|350828|350829|350833|513381|705428|705429|705430|705432|716899|716900|716901|728589|742316|742318|742319|742320|742324|745107|757418|757421|757423|757425|757426|760649|760946|773037|773038|773040|773041|773048|773052|773054|773055|776769|780043|786336|786348|793835|793836|885959|980017|980018", "text": "Corneal dystrophy-perceptive deafness syndrome" }, { - "baseId": "16359|16360|16361|16362", + "upstreamId": "16359|16360|16361|16362", "text": "Corneal dystrophy, Fuchs endothelial, 4" }, { - "baseId": "16363|188053|213463|222816|410649|847886|961634|962984", + "upstreamId": "16363|188053|213463|222816|410649|847886|961634|962984", "text": "Charcot-Marie-Tooth disease type 2B2" }, { - "baseId": 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"text": "Charcot-Marie-Tooth disease, type 2" }, { - "baseId": "16363|141903|141904|199858|213462|213463|213464|222816|222817|222818|379613|410649|471108|610574|610575|800146|800147|961634|982190|982191", + "upstreamId": "16363|141903|141904|199858|213462|213463|213464|222816|222817|222818|379613|410649|471108|610574|610575|800146|800147|961634|982190|982191", "text": "Basel-Vanagaite-Smirin-Yosef syndrome" }, { - "baseId": "16364|134601|134602|134604|134605|134606|193742|247454|247455|247456|253560|308365|308366|308368|308373|308374|308380|308384|308385|308390|308391|308393|308397|308401|308405|308414|308422|308435|308449|308453|308455|308461|308463|308470|308471|308484|308486|308487|308488|308492|312828|312831|312832|312833|312840|312842|312843|312844|312867|312869|312871|312873|312874|312892|312904|312905|312930|312931|312932|312933|312934|312936|312938|312941|312943|318663|318665|318668|318669|318670|318679|318680|318690|318700|318714|318738|318741|318750|318751|318754|318760|318762|318763|318765|318766|318793|318800|318801|318803|318806|318813|318826|318829|318837|318842|319275|319278|319283|319285|319287|319290|319292|319295|319300|319302|319303|319305|319306|319308|319309|319311|319323|319337|319348|319352|319354|319366|319368|319369|319425|319427|319450|319451|319457|319460|319462|319473|380235|380236|380238|429021|429023|540018|620812|654541|723579|737143|737147|737148|783416|902093|902094|902095|902096|902097|902098|902099|902100|902101|902102|902103|902104|902105|902106|902107|902108|902109|902110|902111|902112|902114|902115|902116|902117|902118|902119|902120|902121|902122|902123|902124|902125|902126|902128|902130|902131|902132|902133|902134|902135|902136|902137|902138|902139|902140|902141|902142|902143|902144|902145|902146|902147|902148|902149|902150|902151|902152|902153|902154|902155|902156|902157|902158|902159|902160|902161|902162|902163|902164|902165|902166|902167|902168|902169|902170|902171|902172|902174|902175|902176|902177|902179|902180|902181|902182|902183|902184|902185|902186|902187|902188|902189|902190|902191|902193|902194|902195|902196|902197|902198|902199|902200|902201|902202|902203|902204|902205|903410|903411|903412", + "upstreamId": "16364|134601|134602|134604|134605|134606|193742|247454|247455|247456|253560|308365|308366|308368|308373|308374|308380|308384|308385|308390|308391|308393|308397|308401|308405|308414|308422|308435|308449|308453|308455|308461|308463|308470|308471|308484|308486|308487|308488|308492|312828|312831|312832|312833|312840|312842|312843|312844|312867|312869|312871|312873|312874|312892|312904|312905|312930|312931|312932|312933|312934|312936|312938|312941|312943|318663|318665|318668|318669|318670|318679|318680|318690|318700|318714|318738|318741|318750|318751|318754|318760|318762|318763|318765|318766|318793|318800|318801|318803|318806|318813|318826|318829|318837|318842|319275|319278|319283|319285|319287|319290|319292|319295|319300|319302|319303|319305|319306|319308|319309|319311|319323|319337|319348|319352|319354|319366|319368|319369|319425|319427|319450|319451|319457|319460|319462|319473|380235|380236|380238|429021|429023|540018|620812|654541|723579|737143|737147|737148|783416|902093|902094|902095|902096|902097|902098|902099|902100|902101|902102|902103|902104|902105|902106|902107|902108|902109|902110|902111|902112|902114|902115|902116|902117|902118|902119|902120|902121|902122|902123|902124|902125|902126|902128|902130|902131|902132|902133|902134|902135|902136|902137|902138|902139|902140|902141|902142|902143|902144|902145|902146|902147|902148|902149|902150|902151|902152|902153|902154|902155|902156|902157|902158|902159|902160|902161|902162|902163|902164|902165|902166|902167|902168|902169|902170|902171|902172|902174|902175|902176|902177|902179|902180|902181|902182|902183|902184|902185|902186|902187|902188|902189|902190|902191|902193|902194|902195|902196|902197|902198|902199|902200|902201|902202|902203|902204|902205|903410|903411|903412", "text": "Diabetes mellitus, neonatal, with congenital hypothyroidism" }, { - "baseId": "16365|17080|20359", + "upstreamId": "16365|17080|20359", "text": "Bardet-Biedl syndrome 1, modifier of" }, { - "baseId": 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"16366|239515|239516|239517|294803|294805|294810|294811|294812|294813|294819|294820|294821|294828|294830|296437|296444|296446|296452|296462|296468|296469|296479|296482|296487|296492|296494|296495|296511|296522|296524|300192|300196|300209|300212|300216|300219|300228|300230|300231|300234|300236|300246|300249|300261|300281|300284|300286|394662|453628|453635|453898|453903|454432|454442|454448|454449|520165|520171|520173|520308|520546|520551|520594|538982|559841|559843|632536|632537|632538|685164|686567|799388|829562|829563|892593|892594|892595|892596|892597|892598|892599|892600|892601|892602|892603|892604|892605|892606|892607|892608|892609|892610|892611|892612|892613|892614|892615|892616|892617|892618|892619|892620|892621|892622|892623|892624|892625|892626|892627|892628|892629|892630|896011|896012|896013|918913|923625|932485|944156", "text": "Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive" }, { - "baseId": 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+ "upstreamId": "16367|16368|16370|16371|39774|39775|44415|44416|78954|177141|177273|177405|177505|186848|186849|186850|186851|186852|192540|213010|213011|213012|214075|214076|214077|226933|237357|254720|254721|254723|260913|268121|272492|318501|318502|318504|318505|318508|318509|318510|326670|326679|326684|326687|326688|326690|326693|326694|332885|332890|332893|332894|332898|332900|332909|332911|332912|332914|334567|334569|334570|334573|334581|334588|334589|334590|358107|358108|358109|358110|358111|358112|358113|358114|358115|358116|358117|358118|358119|358120|358121|358122|358123|358124|358125|358126|358127|399055|399208|404810|408745|426019|426020|429449|429451|481238|487588|491371|493542|512858|527371|546695|546697|546711|546712|546713|546715|546722|546724|546729|546735|546736|546855|546857|546858|546861|546865|546877|546879|546881|546882|547014|547027|547039|547044|547048|547205|547209|547210|547213|547221|547234|547238|547241|547244|547255|547260|547264|547266|552165|572037|572041|572062|587963|621383|621384|641389|672028|684346|684348|684349|684353|688047|688050|688052|688053|693286|753614|769310|791276|791277|870453|870454|870455|870456|870457|870458|870459|870460|870461|870462|870463|870464|870465|870466|870467|870468|870469|870470|870471|870472|963363|974496|979294|979295|979296|979297|979298|979299|979300|979301", "text": "Bardet-Biedl syndrome 10" }, { - "baseId": "16367", + "upstreamId": "16367", "text": "Bardet-biedl syndrome 6/10, digenic" }, { - "baseId": 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+ "upstreamId": 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"text": "Bardet-Biedl syndrome 1" }, { - "baseId": "16369", + "upstreamId": "16369", "text": "Bardet-biedl syndrome 1/10, digenic" }, { - "baseId": 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+ "upstreamId": "16372|16372|16372|16373|16374|16376|16376|16378|16378|16384|22927|71368|71372|71377|71378|102062|102066|105739|105741|106469|106470|106471|131783|131784|131789|131790|131794|131801|140430|140432|140433|152874|166166|177012|177012|177013|177143|177274|177571|177572|191726|193150|193874|193875|194245|194245|194246|195425|209353|214321|214322|214323|214324|214325|214325|214326|214327|214327|214328|214329|214330|214330|214331|214332|214333|214334|214335|214336|214337|214338|214339|214340|214341|215459|237416|241579|241580|241581|241582|254740|254742|254760|254761|254763|264538|265486|265486|265487|266616|268040|270185|271034|271034|274283|318575|318578|318583|318585|318587|318599|318602|318607|318610|326795|326802|326805|326809|326815|326818|326819|326830|326832|326833|326838|326844|326848|326850|326860|326862|326882|326888|332974|332976|332982|332983|332987|332988|332990|332993|332994|333001|333002|334647|334649|334653|334657|334658|334659|334671|334674|334680|334684|360055|360950|363660|364169|373481|375454|389204|408763|408772|408772|432311|433122|442556|462516|463244|488743|514649|527675|572093|576354|622900|622901|622902|641416|684357|688062|688063|688070|688072|760254|792790|840370|840371|840383|870494|870495|870496|870497|870498|870499|870500|870501|870502|870503|870504|870505|870506|870507|870508|870509|870510|870511|870512|870513|870514|870515|870516|870517|870518|870519|870520|872295|919469|919470|919471|919472|920320|962819|965740|970232|980946", "text": "Joubert syndrome 5" }, { - "baseId": 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+ "upstreamId": "16372|16376|16378|16384|16422|102062|102066|106469|106470|106471|131783|131784|131789|131790|131794|131801|131836|140430|140432|140433|152874|177012|177012|177013|177143|177274|177572|191726|193150|193874|193875|194245|194245|194246|195425|214280|214282|214322|214325|214327|214330|215459|237416|241579|241580|241581|241582|254740|254742|254761|254763|265486|265486|265487|266616|268040|270185|271034|271034|318575|318578|318583|318585|318587|318599|318602|318607|318610|326795|326802|326805|326809|326815|326818|326819|326830|326832|326833|326838|326844|326848|326850|326860|326862|326882|326888|332974|332976|332982|332983|332987|332988|332990|332993|332994|333001|333002|334647|334649|334653|334657|334658|334659|334671|334674|334680|334684|360055|363660|364169|373481|375454|408763|408772|408772|433122|462516|463244|489341|513323|514649|527675|572093|684357|688062|688063|688070|688072|760254|792790|840370|840383|870494|870495|870496|870497|870498|870499|870500|870501|870502|870503|870504|870505|870506|870507|870508|870509|870510|870511|870512|870513|870514|870515|870516|870517|870518|870519|870520|872295", "text": "Bardet-Biedl syndrome 14" }, { - "baseId": "16372|16372|16376|16378|16379|16380|16381|16383|71368|71369|71370|71371|71372|71373|71374|71375|71376|71377|71378|71379|102062|102066|106469|106470|106471|131783|131784|131789|131790|131794|131801|140430|140432|140433|152874|177012|177012|177013|177143|177274|177572|191726|193150|193874|193875|194245|194245|194246|195425|209353|214325|214327|214330|214330|214337|214339|215459|237416|241579|241580|241581|241582|254740|254742|254761|254763|260915|265486|265486|265487|266616|268040|270185|271034|271034|318575|318578|318583|318585|318587|318599|318602|318607|318610|326795|326802|326805|326809|326815|326818|326819|326830|326832|326833|326838|326844|326848|326850|326860|326862|326882|326888|332974|332976|332982|332983|332987|332988|332990|332993|332994|333001|333002|334647|334649|334653|334657|334658|334659|334671|334674|334680|334684|363660|364169|373481|375454|408763|408772|408772|433122|462516|463244|514649|527675|536196|572093|609863|672202|672203|684357|688062|688063|688070|688072|760254|792790|840370|840383|870494|870495|870496|870497|870498|870499|870500|870501|870502|870503|870504|870505|870506|870507|870508|870509|870510|870511|870512|870513|870514|870515|870516|870517|870518|870519|870520|872295|948198|971593|971594", + "upstreamId": "16372|16372|16376|16378|16379|16380|16381|16383|71368|71369|71370|71371|71372|71373|71374|71375|71376|71377|71378|71379|102062|102066|106469|106470|106471|131783|131784|131789|131790|131794|131801|140430|140432|140433|152874|177012|177012|177013|177143|177274|177572|191726|193150|193874|193875|194245|194245|194246|195425|209353|214325|214327|214330|214330|214337|214339|215459|237416|241579|241580|241581|241582|254740|254742|254761|254763|260915|265486|265486|265487|266616|268040|270185|271034|271034|318575|318578|318583|318585|318587|318599|318602|318607|318610|326795|326802|326805|326809|326815|326818|326819|326830|326832|326833|326838|326844|326848|326850|326860|326862|326882|326888|332974|332976|332982|332983|332987|332988|332990|332993|332994|333001|333002|334647|334649|334653|334657|334658|334659|334671|334674|334680|334684|363660|364169|373481|375454|408763|408772|408772|433122|462516|463244|514649|527675|536196|572093|609863|672202|672203|684357|688062|688063|688070|688072|760254|792790|840370|840383|870494|870495|870496|870497|870498|870499|870500|870501|870502|870503|870504|870505|870506|870507|870508|870509|870510|870511|870512|870513|870514|870515|870516|870517|870518|870519|870520|872295|948198|971593|971594", "text": "Meckel syndrome, type 4" }, { - "baseId": "16372|16372|16375|16376|16378|16378|102062|102066|106469|106470|106471|131783|131784|131789|131790|131794|131801|140430|140432|140433|152874|177012|177012|177013|177143|177274|177572|191726|193150|193874|193875|194245|194245|194246|195425|209353|214322|214325|214327|214330|215459|237416|241579|241580|241581|241582|254740|254742|254761|254763|265486|265486|265487|266616|268040|270185|271034|271034|318575|318578|318583|318585|318587|318599|318602|318607|318610|326795|326802|326805|326809|326815|326818|326819|326830|326832|326833|326838|326844|326848|326850|326860|326862|326882|326888|332974|332976|332982|332983|332987|332988|332990|332993|332994|333001|333002|334647|334649|334653|334657|334658|334659|334671|334674|334680|334684|363660|364169|373481|375454|408763|408772|408772|433122|462516|463244|514649|527675|572093|684357|688062|688063|688070|688072|760254|792790|840370|840383|870494|870495|870496|870497|870498|870499|870500|870501|870502|870503|870504|870505|870506|870507|870508|870509|870510|870511|870512|870513|870514|870515|870516|870517|870518|870519|870520|872295", + "upstreamId": "16372|16372|16375|16376|16378|16378|102062|102066|106469|106470|106471|131783|131784|131789|131790|131794|131801|140430|140432|140433|152874|177012|177012|177013|177143|177274|177572|191726|193150|193874|193875|194245|194245|194246|195425|209353|214322|214325|214327|214330|215459|237416|241579|241580|241581|241582|254740|254742|254761|254763|265486|265486|265487|266616|268040|270185|271034|271034|318575|318578|318583|318585|318587|318599|318602|318607|318610|326795|326802|326805|326809|326815|326818|326819|326830|326832|326833|326838|326844|326848|326850|326860|326862|326882|326888|332974|332976|332982|332983|332987|332988|332990|332993|332994|333001|333002|334647|334649|334653|334657|334658|334659|334671|334674|334680|334684|363660|364169|373481|375454|408763|408772|408772|433122|462516|463244|514649|527675|572093|684357|688062|688063|688070|688072|760254|792790|840370|840383|870494|870495|870496|870497|870498|870499|870500|870501|870502|870503|870504|870505|870506|870507|870508|870509|870510|870511|870512|870513|870514|870515|870516|870517|870518|870519|870520|872295", "text": "Senior-Loken syndrome 6" }, { - "baseId": "16372|16376|16376|16377|16378|16378|16379|16382|102062|102066|106469|106470|106471|131783|131784|131789|131790|131794|131801|140430|140432|140433|152874|166158|166159|166166|166167|177012|177012|177013|177143|177274|177572|191726|193150|193874|193875|194245|194245|194246|195425|209353|214325|214327|214330|215459|237416|241579|241580|241581|241582|254740|254742|254761|254763|265486|265486|265487|266616|268040|270185|271034|271034|318575|318578|318583|318585|318587|318599|318602|318607|318610|326795|326802|326805|326809|326815|326818|326819|326830|326832|326833|326838|326844|326848|326850|326860|326862|326882|326888|332974|332976|332982|332983|332987|332988|332990|332993|332994|333001|333002|334647|334649|334653|334657|334658|334659|334671|334674|334680|334684|363660|364169|373481|375454|408763|408772|408772|433122|445093|462516|463244|514649|527675|551568|572093|684357|688062|688063|688070|688072|760254|792790|802180|818301|840370|840383|870494|870495|870496|870497|870498|870499|870500|870501|870502|870503|870504|870505|870506|870507|870508|870509|870510|870511|870512|870513|870514|870515|870516|870517|870518|870519|870520|872295", + "upstreamId": "16372|16376|16376|16377|16378|16378|16379|16382|102062|102066|106469|106470|106471|131783|131784|131789|131790|131794|131801|140430|140432|140433|152874|166158|166159|166166|166167|177012|177012|177013|177143|177274|177572|191726|193150|193874|193875|194245|194245|194246|195425|209353|214325|214327|214330|215459|237416|241579|241580|241581|241582|254740|254742|254761|254763|265486|265486|265487|266616|268040|270185|271034|271034|318575|318578|318583|318585|318587|318599|318602|318607|318610|326795|326802|326805|326809|326815|326818|326819|326830|326832|326833|326838|326844|326848|326850|326860|326862|326882|326888|332974|332976|332982|332983|332987|332988|332990|332993|332994|333001|333002|334647|334649|334653|334657|334658|334659|334671|334674|334680|334684|363660|364169|373481|375454|408763|408772|408772|433122|445093|462516|463244|514649|527675|551568|572093|684357|688062|688063|688070|688072|760254|792790|802180|818301|840370|840383|870494|870495|870496|870497|870498|870499|870500|870501|870502|870503|870504|870505|870506|870507|870508|870509|870510|870511|870512|870513|870514|870515|870516|870517|870518|870519|870520|872295", "text": "Leber congenital amaurosis 10" }, { - "baseId": "16378|360950", + "upstreamId": "16378|360950", "text": "Molar tooth sign on MRI" }, { - "baseId": "16378|360941|360950", + "upstreamId": "16378|360941|360950", "text": "Central hypotonia" }, { - "baseId": "16378|16432|18513|18846|45840|105416|243993|260323|267852|360901|360950|361027|361067|361069|361097|361107|496932|513979|514086|514138|568036|624881|792733|800988|822308", + "upstreamId": "16378|16432|18513|18846|45840|105416|243993|260323|267852|360901|360950|361027|361067|361069|361097|361107|496932|513979|514086|514138|568036|624881|792733|800988|822308", "text": "Nystagmus" }, { - "baseId": "16378|17397|105349|181401|214327|263309|270311|360950|361108|513929", + "upstreamId": "16378|17397|105349|181401|214327|263309|270311|360950|361108|513929", "text": "Blindness" }, { - "baseId": "16381|25032|45818|683339|966695|966696|966699|966722|966733|966734|966735", + "upstreamId": "16381|25032|45818|683339|966695|966696|966699|966722|966733|966734|966735", "text": "Severe hydrocephalus" }, { - "baseId": "16381|17203|19147|19147|102335|186709|186713|186713|186718|221366|255586|360861|360862|360862|360863|360880|360881|360987|360990|360991|360992|360993|417656|427500|439930|513954|514054|514055|514056|514058|514059|514085|514102|551414|551415|611473|624327|683810|686889|816408|816410|861051|861509|861524|906257|965434|965435|965436|965437|966705|966706|966722|976700", + "upstreamId": "16381|17203|19147|19147|102335|186709|186713|186713|186718|221366|255586|360861|360862|360862|360863|360880|360881|360987|360990|360991|360992|360993|417656|427500|439930|513954|514054|514055|514056|514058|514059|514085|514102|551414|551415|611473|624327|683810|686889|816408|816410|861051|861509|861524|906257|965434|965435|965436|965437|966705|966706|966722|976700", "text": "Polycystic kidney disease" }, { - "baseId": "16381|683339|966699|966705|966706|966707|966708|966722", + "upstreamId": "16381|683339|966699|966705|966706|966707|966708|966722", "text": "Encephalocele" }, { - "baseId": "16385", + "upstreamId": "16385", "text": "Caudal regression syndrome" }, { - "baseId": "16386|16387|23220|24091|24092|40597|40598|40599|181532|181533|181536", + "upstreamId": "16386|16387|23220|24091|24092|40597|40598|40599|181532|181533|181536", "text": "Neural tube defects, susceptibility to" }, { - "baseId": "16388|48153|48154|48155|48156|48156|48157|249387|249388|249389|249390|249391|249392|276354|276355|276360|276362|276363|276366|276368|276369|276372|276375|276377|276387|276580|276583|276584|276586|276592|276592|276594|276595|276596|276611|276612|276615|277052|277063|277065|277066|277069|277072|277079|277083|277093|277096|277105|277110|277118|277124|277125|277126|277127|277153|277154|277155|277171|277172|277174|277175|277176|277181|277183|277184|277186|277197|277198|277199|277201|277203|277206|277207|277224|277227|277233|586023|614182|614183|614184|614185|614186|614186|619951|620705|622300|718192|731704|745669|816300|862206|862207|862208|862209|862210|862211|862212|862213|862214|862215|862216|862217|862218|862219|862220|862221|862222|862223|862224|862225|862226|862227|862228|862229|862230|862231|862232|862233|862234|862235|862236|862237|862238|862239|862240|862241|862242|862243|862244|862245|862246|862247|862248|862249|862250|862251|862252|864974|864975|864976|864977|980433", + "upstreamId": "16388|48153|48154|48155|48156|48156|48157|249387|249388|249389|249390|249391|249392|276354|276355|276360|276362|276363|276366|276368|276369|276372|276375|276377|276387|276580|276583|276584|276586|276592|276592|276594|276595|276596|276611|276612|276615|277052|277063|277065|277066|277069|277072|277079|277083|277093|277096|277105|277110|277118|277124|277125|277126|277127|277153|277154|277155|277171|277172|277174|277175|277176|277181|277183|277184|277186|277197|277198|277199|277201|277203|277206|277207|277224|277227|277233|586023|614182|614183|614184|614185|614186|614186|619951|620705|622300|718192|731704|745669|816300|862206|862207|862208|862209|862210|862211|862212|862213|862214|862215|862216|862217|862218|862219|862220|862221|862222|862223|862224|862225|862226|862227|862228|862229|862230|862231|862232|862233|862234|862235|862236|862237|862238|862239|862240|862241|862242|862243|862244|862245|862246|862247|862248|862249|862250|862251|862252|864974|864975|864976|864977|980433", "text": "Ectopia lentis 2, isolated, autosomal recessive" }, { - "baseId": "16389|16390|16391|16392", + "upstreamId": "16389|16390|16391|16392", "text": "Autoimmune disease 6" }, { - "baseId": "16393|134067|208545|208553|208555|208558|230984|580481|622451|816491|919832|919833|971119|972798", + "upstreamId": "16393|134067|208545|208553|208555|208558|230984|580481|622451|816491|919832|919833|971119|972798", "text": "Mental retardation, autosomal recessive 3" }, { - "baseId": "16394|16395|16396|16397|16398|16399|133792|133793|215335|227703|237193|237246|237311|268309|268444|268563|268564|268779|268833|268955|270020|270927|271115|271327|272063|272940|273656|299657|299661|299663|299665|299666|299668|299673|299675|299683|299684|299688|299690|299696|299698|299711|299712|299715|299716|299719|302257|302263|302268|302273|302277|302278|302282|302283|302291|302300|302302|302303|302311|306654|306656|306663|306666|306667|306674|306683|306687|306688|306692|306694|306695|306705|306706|306718|306719|306720|306721|306730|306732|306955|306957|306964|306965|306966|306968|306970|306971|306972|306974|306976|306977|306978|306980|306994|307008|363666|368543|368544|370313|415038|428605|443937|455467|455476|455478|455479|455482|455483|455561|455572|455574|455579|455580|456071|456087|456089|456092|456305|456311|456312|456314|456317|456322|490849|511649|521512|521514|521520|521522|521526|521530|521536|521537|521811|521817|521818|521820|521822|521888|521891|522189|522190|522196|522197|522200|522205|522210|522212|522218|560513|560670|560672|560674|560676|560751|560753|563491|563500|563504|565248|565538|565539|565542|578445|586561|634785|634786|634787|634788|634789|634790|634791|634792|634793|634794|634795|634796|634797|634798|634799|634800|634801|634802|699478|710357|710358|735555|735556|735557|735558|765603|765607|765608|782500|782501|782502|787377|790607|792759|831762|831763|831764|831765|831766|831767|831768|831769|831770|831771|831772|831773|831774|831775|831776|831777|831778|831779|831780|831781|831782|831783|831784|831785|831786|851068|895680|895681|895682|895683|895684|895685|895686|895687|895688|895689|895690|895691|895692|895693|895694|895695|895696|895697|895698|895699|895700|895701|895702|895703|895704|895705|895706|895707|895708|895709|895710|895711|895712|895713|895714|895715|895716|895717|895718|895719|895720|896215|924309|924310|924311|924312|924313|924314|933256|933257|933258|933259|933260|933261|933262|933263|933264|933265|944954|944955|944956|944957|944958|944959|944960|944961|954406|954407|959801|972789|980897", + "upstreamId": "16394|16395|16396|16397|16398|16399|133792|133793|215335|227703|237193|237246|237311|268309|268444|268563|268564|268779|268833|268955|270020|270927|271115|271327|272063|272940|273656|299657|299661|299663|299665|299666|299668|299673|299675|299683|299684|299688|299690|299696|299698|299711|299712|299715|299716|299719|302257|302263|302268|302273|302277|302278|302282|302283|302291|302300|302302|302303|302311|306654|306656|306663|306666|306667|306674|306683|306687|306688|306692|306694|306695|306705|306706|306718|306719|306720|306721|306730|306732|306955|306957|306964|306965|306966|306968|306970|306971|306972|306974|306976|306977|306978|306980|306994|307008|363666|368543|368544|370313|415038|428605|443937|455467|455476|455478|455479|455482|455483|455561|455572|455574|455579|455580|456071|456087|456089|456092|456305|456311|456312|456314|456317|456322|490849|511649|521512|521514|521520|521522|521526|521530|521536|521537|521811|521817|521818|521820|521822|521888|521891|522189|522190|522196|522197|522200|522205|522210|522212|522218|560513|560670|560672|560674|560676|560751|560753|563491|563500|563504|565248|565538|565539|565542|578445|586561|634785|634786|634787|634788|634789|634790|634791|634792|634793|634794|634795|634796|634797|634798|634799|634800|634801|634802|699478|710357|710358|735555|735556|735557|735558|765603|765607|765608|782500|782501|782502|787377|790607|792759|831762|831763|831764|831765|831766|831767|831768|831769|831770|831771|831772|831773|831774|831775|831776|831777|831778|831779|831780|831781|831782|831783|831784|831785|831786|851068|895680|895681|895682|895683|895684|895685|895686|895687|895688|895689|895690|895691|895692|895693|895694|895695|895696|895697|895698|895699|895700|895701|895702|895703|895704|895705|895706|895707|895708|895709|895710|895711|895712|895713|895714|895715|895716|895717|895718|895719|895720|896215|924309|924310|924311|924312|924313|924314|933256|933257|933258|933259|933260|933261|933262|933263|933264|933265|944954|944955|944956|944957|944958|944959|944960|944961|954406|954407|959801|972789|980897", "text": "Succinate-semialdehyde dehydrogenase deficiency" }, { - "baseId": "16400|16401|16402|280525|280526|280531|280532|280539|280540|280544|280545|280546|280962|280983|280987|281001|281005|281006|281010|281011|282281|282282|282283|282284|282288|282307|282498|282499|282515|282526|282535|282537|282543|282544|282550|539120|539121|551674|823965|864383|864384|864385|864386|864387|864388|864389|864390|864391|864392|864393|864394|864395|864396|864397|864398|864399|864400|864401|864402|864403|864404|864405|864406|864407|864408|864409|864410|864411|864412|864413|918532|962667", + "upstreamId": "16400|16401|16402|280525|280526|280531|280532|280539|280540|280544|280545|280546|280962|280983|280987|281001|281005|281006|281010|281011|282281|282282|282283|282284|282288|282307|282498|282499|282515|282526|282535|282537|282543|282544|282550|539120|539121|551674|823965|864383|864384|864385|864386|864387|864388|864389|864390|864391|864392|864393|864394|864395|864396|864397|864398|864399|864400|864401|864402|864403|864404|864405|864406|864407|864408|864409|864410|864411|864412|864413|918532|962667", "text": "Hypomagnesemia 5, renal, with ocular involvement" }, { - "baseId": "16403", + "upstreamId": "16403", "text": "Prostate cancer, hereditary, 12" }, { - "baseId": "16404|16405|16406|16408|16409|16412|16415|16416|16417|16422|70570|71401|71402|71403|71404|71405|71406|71407|71408|71409|71410|71411|71412|71413|71414|71415|71416|71417|71418|71419|71421|71422|71423|71426|71427|71428|102422|102423|131831|131833|131834|131836|131839|212651|214280|214282|214287|243906|253194|253195|253203|253209|253212|253213|270862|306007|306009|306010|306015|306017|306035|310036|310037|310038|310039|315373|315374|315375|315376|315377|315516|315517|315527|315531|315532|315535|315541|444309|489341|552127|637489|672205|900150|900151|900152|900153|900154|900155|900156|900157|900518|900519|900541|900542|900543|900544|900545|900546|900547|900548|900549|903276|903277|961004|970888", + "upstreamId": "16404|16405|16406|16408|16409|16412|16415|16416|16417|16422|70570|71401|71402|71403|71404|71405|71406|71407|71408|71409|71410|71411|71412|71413|71414|71415|71416|71417|71418|71419|71421|71422|71423|71426|71427|71428|102422|102423|131831|131833|131834|131836|131839|212651|214280|214282|214287|243906|253194|253195|253203|253209|253212|253213|270862|306007|306009|306010|306015|306017|306035|310036|310037|310038|310039|315373|315374|315375|315376|315377|315516|315517|315527|315531|315532|315535|315541|444309|489341|552127|637489|672205|900150|900151|900152|900153|900154|900155|900156|900157|900518|900519|900541|900542|900543|900544|900545|900546|900547|900548|900549|903276|903277|961004|970888", "text": "Meckel syndrome, type 3" }, { - "baseId": "16407|16410|16411|16412|16413|16414|16415|16416|16417|16418|16420|16421|16422|16422|16424|16425|16426|39765|71401|71412|71422|71426|102422|102423|131833|131834|131836|207574|212651|212652|214270|214271|214272|214273|214274|214275|214276|214277|214278|214279|214280|214280|214281|214282|214282|214283|214284|214285|214286|214287|214288|214289|214290|214291|214292|214293|214294|227327|243906|253194|253195|253203|253209|253212|253213|270862|306007|306009|306010|306015|306017|306035|310036|310037|310038|310039|315373|315374|315375|315376|315377|315516|315517|315527|315531|315532|315535|315541|370404|444309|486823|486834|486835|489341|511772|623148|637489|680065|802166|900150|900151|900152|900153|900154|900155|900156|900157|900518|900519|900541|900542|900543|900544|900545|900546|900547|900548|900549|903276|903277|906253", + "upstreamId": "16407|16410|16411|16412|16413|16414|16415|16416|16417|16418|16420|16421|16422|16422|16424|16425|16426|39765|71401|71412|71422|71426|102422|102423|131833|131834|131836|207574|212651|212652|214270|214271|214272|214273|214274|214275|214276|214277|214278|214279|214280|214280|214281|214282|214282|214283|214284|214285|214286|214287|214288|214289|214290|214291|214292|214293|214294|227327|243906|253194|253195|253203|253209|253212|253213|270862|306007|306009|306010|306015|306017|306035|310036|310037|310038|310039|315373|315374|315375|315376|315377|315516|315517|315527|315531|315532|315535|315541|370404|444309|486823|486834|486835|489341|511772|623148|637489|680065|802166|900150|900151|900152|900153|900154|900155|900156|900157|900518|900519|900541|900542|900543|900544|900545|900546|900547|900548|900549|903276|903277|906253", "text": "Joubert syndrome 6" }, { - "baseId": "16415|16422|71401|71422|620309", + "upstreamId": "16415|16422|71401|71422|620309", "text": "TMEM67-Related Disorders" }, { - "baseId": "16415|16416|16422|444309|583167|919176|919177|920257", + "upstreamId": "16415|16416|16422|444309|583167|919176|919177|920257", "text": "RHYNS syndrome" }, { - "baseId": "16416", + "upstreamId": "16416", "text": "Bardet-Biedl syndrome 14, modifier of" }, { - "baseId": "16416|16421|16422|16422|16423|16424|102422|102423|131833|131834|131836|212651|214280|214282|214287|221800|243906|253194|253195|253203|253209|253212|253213|270862|306007|306009|306010|306015|306017|306035|310036|310037|310038|310039|315373|315374|315375|315376|315377|315516|315517|315527|315531|315532|315535|315541|444309|489341|637489|900150|900151|900152|900153|900154|900155|900156|900157|900518|900519|900541|900542|900543|900544|900545|900546|900547|900548|900549|903276|903277|962718|962719", + "upstreamId": "16416|16421|16422|16422|16423|16424|102422|102423|131833|131834|131836|212651|214280|214282|214287|221800|243906|253194|253195|253203|253209|253212|253213|270862|306007|306009|306010|306015|306017|306035|310036|310037|310038|310039|315373|315374|315375|315376|315377|315516|315517|315527|315531|315532|315535|315541|444309|489341|637489|900150|900151|900152|900153|900154|900155|900156|900157|900518|900519|900541|900542|900543|900544|900545|900546|900547|900548|900549|903276|903277|962718|962719", "text": "Nephronophthisis 11" }, { - "baseId": "16422|186713|214282|360844|360880|360915|360988|360994|971020", + "upstreamId": "16422|186713|214282|360844|360880|360915|360988|360994|971020", "text": "Renal cyst" }, { - "baseId": "16422|19147|214282|360881", + "upstreamId": "16422|19147|214282|360881", "text": "Oligohydramnios" }, { - "baseId": "16422|17315|31366|31371|31377|31378|31379|32405|32434|32501|32502|53428|76763|192309|214282|215768|226497|263204|263208|263226|263258|263278|263301|263313|263402|263406|325021|361089|407722|453069|511532|514190|536665|590060|590063|590095|679598|679599", + "upstreamId": "16422|17315|31366|31371|31377|31378|31379|32405|32434|32501|32502|53428|76763|192309|214282|215768|226497|263204|263208|263226|263258|263278|263301|263313|263402|263406|325021|361089|407722|453069|511532|514190|536665|590060|590063|590095|679598|679599", "text": "14 conditions" }, { - "baseId": "16428|16429|16429|16430|16430|16431|16431|16432|71252|71253|71254|71256|71257|71258|71258|71259|71261|71262|71263|71263|71264|71264|71266|71266|131803|131804|131806|181163|181164|186262|186263|191265|191933|192033|193638|196045|208403|208405|208405|214363|214364|214364|214367|214367|222686|222686|222687|237090|237473|237473|242824|242825|242825|256280|256281|256283|256284|256285|256287|256288|256290|256292|260473|265360|265781|265781|265876|271121|271440|271734|272946|275520|329155|329156|329157|329161|339301|339303|339303|345175|345176|345181|345182|346571|346573|346576|346576|346578|346579|346580|346583|346584|346586|358457|358458|429991|429994|438996|438996|445833|468480|493136|536949|536950|548215|548216|548218|548253|548261|548273|548279|548558|548563|548566|548568|548571|548577|548579|548579|548992|548999|549000|549001|549004|549005|585568|588985|646234|688796|688799|688802|690181|845657|845660|852892|877946|877947|877948|877949|877950|877951|877952|877953|877954|877955|877956|877957|877958|880551|880552|880553|880554|906269|938039|979913", + "upstreamId": "16428|16429|16429|16430|16430|16431|16431|16432|71252|71253|71254|71256|71257|71258|71258|71259|71261|71262|71263|71263|71264|71264|71266|71266|131803|131804|131806|181163|181164|186262|186263|191265|191933|192033|193638|196045|208403|208405|208405|214363|214364|214364|214367|214367|222686|222686|222687|237090|237473|237473|242824|242825|242825|256280|256281|256283|256284|256285|256287|256288|256290|256292|260473|265360|265781|265781|265876|271121|271440|271734|272946|275520|329155|329156|329157|329161|339301|339303|339303|345175|345176|345181|345182|346571|346573|346576|346576|346578|346579|346580|346583|346584|346586|358457|358458|429991|429994|438996|438996|445833|468480|493136|536949|536950|548215|548216|548218|548253|548261|548273|548279|548558|548563|548566|548568|548571|548577|548579|548579|548992|548999|549000|549001|549004|549005|585568|588985|646234|688796|688799|688802|690181|845657|845660|852892|877946|877947|877948|877949|877950|877951|877952|877953|877954|877955|877956|877957|877958|880551|880552|880553|880554|906269|938039|979913", "text": "Meckel syndrome type 1" }, { - "baseId": "16429|16430|16431|16431|16432|16432|16433|71256|71258|71263|71264|131803|131804|131806|181163|181163|181164|186263|191265|191933|192033|193638|208403|208405|214363|214364|214364|214367|214367|222686|222687|237090|237473|237473|242824|242825|242825|256280|256281|256283|256284|256285|256288|256290|256292|265360|265781|271121|329155|329156|329157|329161|339301|339303|339303|345175|345176|345181|345182|346571|346573|346576|346576|346578|346579|346580|346583|346584|346586|358457|358458|429994|438996|438996|490946|548215|548216|548218|548253|548261|548273|548279|548558|548563|548566|548568|548571|548577|548579|548992|548999|549000|549001|549004|549005|588985|688796|688799|877946|877947|877948|877949|877950|877951|877952|877953|877954|877955|877956|877957|877958|880551|880552|880553|880554", + "upstreamId": "16429|16430|16431|16431|16432|16432|16433|71256|71258|71263|71264|131803|131804|131806|181163|181163|181164|186263|191265|191933|192033|193638|208403|208405|214363|214364|214364|214367|214367|222686|222687|237090|237473|237473|242824|242825|242825|256280|256281|256283|256284|256285|256288|256290|256292|265360|265781|271121|329155|329156|329157|329161|339301|339303|339303|345175|345176|345181|345182|346571|346573|346576|346576|346578|346579|346580|346583|346584|346586|358457|358458|429994|438996|438996|490946|548215|548216|548218|548253|548261|548273|548279|548558|548563|548566|548568|548571|548577|548579|548992|548999|549000|549001|549004|549005|588985|688796|688799|877946|877947|877948|877949|877950|877951|877952|877953|877954|877955|877956|877957|877958|880551|880552|880553|880554", "text": "Bardet-Biedl syndrome 13" }, { - "baseId": "16429|16430|16431|16432|71256|71258|71263|71264|131803|181163|186262|186263|191265|208405|214363|214364|214364|214367|222686|222687|237090|237473|242825|249226|249228|256280|256281|256284|256288|265781|339303|346576|346583|358457|358458|438996|548215|548216|548218|548253|548261|548273|548279|548558|548563|548566|548568|548571|548577|548579|548992|548999|549000|549001|549004|549005", + "upstreamId": "16429|16430|16431|16432|71256|71258|71263|71264|131803|181163|186262|186263|191265|208405|214363|214364|214364|214367|222686|222687|237090|237473|242825|249226|249228|256280|256281|256284|256288|265781|339303|346576|346583|358457|358458|438996|548215|548216|548218|548253|548261|548273|548279|548558|548563|548566|548568|548571|548577|548579|548992|548999|549000|549001|549004|549005", "text": "Joubert syndrome 28" }, { - "baseId": "16432|40348|137063|137064|137065|178412|178416|181434|181447|209338|226495|226500|226502|243981|243988|263200|263231|263248|263249|263252|263254|263255|263262|263323|263332|263335|263388|263782|263783|264319|360955|361130|406053|408757|415099|417657|514041|514086|514182|514185|514194|514210|551445|581716|583203|583204|677223|682488|961915|961916|961917|969264|969266", + "upstreamId": "16432|40348|137063|137064|137065|178412|178416|181434|181447|209338|226495|226500|226502|243981|243988|263200|263231|263248|263249|263252|263254|263255|263262|263323|263332|263335|263388|263782|263783|264319|360955|361130|406053|408757|415099|417657|514041|514086|514182|514185|514194|514210|551445|581716|583203|583204|677223|682488|961915|961916|961917|969264|969266", "text": "Muscular hypotonia" }, { - "baseId": "16432|28860|46777|70943|141188|141189|191624|191625|191626|207480|214364|236899|252842|252844|252845|252846|252847|252848|252849|252850|252854|252855|252856|252860|252864|252866|252868|252873|252874|252875|252876|252880|252881|259861|259864|263337|267367|268321|268762|269149|272221|273308|302938|302939|302940|302941|302943|302944|302947|302952|302961|302966|302968|302970|302973|302977|302978|302982|302983|302990|302992|302994|303006|303007|303011|303020|303022|303024|303026|303029|303033|303034|303040|303041|303046|303047|303048|303049|303053|306259|306260|306264|306265|306266|306267|306268|306269|306271|306272|306273|306274|306275|306276|306287|306290|306294|310985|310988|310989|311012|311032|311033|311042|311058|311061|311068|311070|311071|311099|311107|311108|311109|311112|311114|311133|311135|311142|311143|311146|311148|311149|311156|311157|311164|311245|311246|311248|311252|311257|311259|311260|311261|311262|311264|311265|311266|311267|311268|311269|311272|311274|311277|311278|311279|311280|311282|311283|311284|311285|311286|311287|311288|311289|311290|311295|353817|353818|502039|514086|540582|692239|700067|700070|898063|898064|898065|898066|898067|898068|898069|898070|898071|898072|898073|898074|898075|898076|898077|898078|898079|898080|898081|898082|898083|898084|898085|898086|898087|898088|898089|898090|898091|898092|898093|898094|898095|898096|898097|898098|898099|898100|898101|898102|898103|898104|898105|898106|898107|900361|900362|900363|900364|966707|966708", + "upstreamId": "16432|28860|46777|70943|141188|141189|191624|191625|191626|207480|214364|236899|252842|252844|252845|252846|252847|252848|252849|252850|252854|252855|252856|252860|252864|252866|252868|252873|252874|252875|252876|252880|252881|259861|259864|263337|267367|268321|268762|269149|272221|273308|302938|302939|302940|302941|302943|302944|302947|302952|302961|302966|302968|302970|302973|302977|302978|302982|302983|302990|302992|302994|303006|303007|303011|303020|303022|303024|303026|303029|303033|303034|303040|303041|303046|303047|303048|303049|303053|306259|306260|306264|306265|306266|306267|306268|306269|306271|306272|306273|306274|306275|306276|306287|306290|306294|310985|310988|310989|311012|311032|311033|311042|311058|311061|311068|311070|311071|311099|311107|311108|311109|311112|311114|311133|311135|311142|311143|311146|311148|311149|311156|311157|311164|311245|311246|311248|311252|311257|311259|311260|311261|311262|311264|311265|311266|311267|311268|311269|311272|311274|311277|311278|311279|311280|311282|311283|311284|311285|311286|311287|311288|311289|311290|311295|353817|353818|502039|514086|540582|692239|700067|700070|898063|898064|898065|898066|898067|898068|898069|898070|898071|898072|898073|898074|898075|898076|898077|898078|898079|898080|898081|898082|898083|898084|898085|898086|898087|898088|898089|898090|898091|898092|898093|898094|898095|898096|898097|898098|898099|898100|898101|898102|898103|898104|898105|898106|898107|900361|900362|900363|900364|966707|966708", "text": "Polydactyly" }, { - "baseId": "16434|16435|16436|16437|39761|39762|39763|101803|101804|177411|187123|191269|194996|194997|195392|270912|271103|273548|321680|321683|321684|321685|321689|321692|330943|330945|330948|337642|337643|337647|337650|337655|337659|337663|337680|337685|339718|339720|339721|339725|339729|339734|409162|409163|482057|489407|528852|551577|703007|714258|725846|778113|820659|841879|841880|841881|841882|841883|841884|841885|841886|841887|841888|841889|841890|841891|841892|841893|872852|872853|872854|872855|872856|872857|872858|872859|872860|872861|872862|872863|872864|872865|876462|920338|927192|936759|936760|940317|948713|948714|948715|948716|948717|957330|957331|957332|966101|966102|966103|966106|966107|966108|966145", + "upstreamId": "16434|16435|16436|16437|39761|39762|39763|101803|101804|177411|187123|191269|194996|194997|195392|270912|271103|273548|321680|321683|321684|321685|321689|321692|330943|330945|330948|337642|337643|337647|337650|337655|337659|337663|337680|337685|339718|339720|339721|339725|339729|339734|409162|409163|482057|489407|528852|551577|703007|714258|725846|778113|820659|841879|841880|841881|841882|841883|841884|841885|841886|841887|841888|841889|841890|841891|841892|841893|872852|872853|872854|872855|872856|872857|872858|872859|872860|872861|872862|872863|872864|872865|876462|920338|927192|936759|936760|940317|948713|948714|948715|948716|948717|957330|957331|957332|966101|966102|966103|966106|966107|966108|966145", "text": "Leber congenital amaurosis 3" }, { - "baseId": "16434|39763|620496", + "upstreamId": "16434|39763|620496", "text": "SPATA7-Related Disorders" }, { - "baseId": 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"text": "Sucrase-isomaltase deficiency" }, { - "baseId": "16459", + "upstreamId": "16459", "text": "Skin/hair/eye pigmentation, variation in, 6" }, { - "baseId": 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+ "upstreamId": 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"text": "Cobalamin C disease" }, { - "baseId": 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"text": "Disorders of Intracellular Cobalamin Metabolism" }, { - "baseId": "16460|486708|486709|486714|486715", + "upstreamId": "16460|486708|486709|486714|486715", "text": "METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE, DIGENIC" }, { - "baseId": "16460|16462|16463|16464|39757|101600|101601|101602|101603|101604|194467|199944|199945|199946|199947|199948|199951|199952|199953|265244|280700|282450|282737|282748|282752|365277|365372|448353|481595|486903|498500|541098|541135|541138|541228|541244|541246|541281|557367|690627|690630|696775|746529|761986|761989|761990|780717|780720|801598|864510", + "upstreamId": "16460|16462|16463|16464|39757|101600|101601|101602|101603|101604|194467|199944|199945|199946|199947|199948|199951|199952|199953|265244|280700|282450|282737|282748|282752|365277|365372|448353|481595|486903|498500|541098|541135|541138|541228|541244|541246|541281|557367|690627|690630|696775|746529|761986|761989|761990|780717|780720|801598|864510", "text": "Methylmalonic aciduria with homocystinuria cblC type" }, { - "baseId": 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"text": "Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency" }, { - "baseId": "16462", + "upstreamId": "16462", "text": "cblC type of combined methylmalonic aciduria and homocystinuria" }, { - "baseId": "16465|16466|16467|16468|16469|16470|16471|16472|16473|16474|191441|191442|195771|265451|269096|384486|432302|437700|437701|437702|437703|437704|438959|513078|513079|790875|818267|818268|818269|818270|818271|818272|835948|919211", + "upstreamId": "16465|16466|16467|16468|16469|16470|16471|16472|16473|16474|191441|191442|195771|265451|269096|384486|432302|437700|437701|437702|437703|437704|438959|513078|513079|790875|818267|818268|818269|818270|818271|818272|835948|919211", "text": "Autosomal recessive hypophosphatemic bone disease" }, { - "baseId": "16468|438959", + "upstreamId": "16468|438959", "text": "Hypophosphatemic rickets with hypercalciuria" }, { - "baseId": "16475|16477|16478|16479|134277|134278|134279|140681|211104|362100|513055|581745|581746|581747|581753|581762|798548|802153|818234|918198", + "upstreamId": "16475|16477|16478|16479|134277|134278|134279|140681|211104|362100|513055|581745|581746|581747|581753|581762|798548|802153|818234|918198", "text": "Coenzyme Q10 deficiency, primary 1" }, { - "baseId": "16475|16477|16478|16479|75117|75119|142389|211447|295996|298511|299717|305208|305215|305397|321198|321757|335546|342017|343530|362100|362101|362102|620176", + "upstreamId": "16475|16477|16478|16479|75117|75119|142389|211447|295996|298511|299717|305208|305215|305397|321198|321757|335546|342017|343530|362100|362101|362102|620176", "text": "Coenzyme Q10 deficiency, primary" }, { - "baseId": "16480|16483|16520|16521|16523", + "upstreamId": "16480|16483|16520|16521|16523", "text": "Porphyria, acute intermittent, nonerythroid variant" }, { - "baseId": 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"16481|16482|16484|16485|16486|16487|16488|16489|16490|16491|16492|16493|16494|16495|16496|16497|16498|16499|16500|16501|16502|16503|16504|16505|16506|16507|16508|16509|16510|16511|16512|16513|16514|16515|16516|16517|16518|16519|16522|16524|16525|99631|171128|171129|171130|171131|171132|177396|254014|254015|254016|312560|312568|318548|324646|324649|324652|324664|324667|324668|324675|324687|325412|325413|325419|325424|325425|325428|325432|325433|325434|353169|359912|360926|361868|444737|444738|444739|503169|513190|540142|609296|639780|639782|677433|682125|724240|867120|867121|867122|867123|867124|867125|867126|867127|867128|904069|919323|920294|935409", "text": "Acute intermittent porphyria" }, { - "baseId": "16526|75132|615964", + "upstreamId": "16526|75132|615964", "text": "Skin/hair/eye pigmentation, variation in, 4" }, { - "baseId": "16527|191732|195791|195791|222561|242616|242617|256108|256109|327902|327906|327910|327911|327915|327919|327921|337719|337723|337725|337729|337736|337738|337743|343939|343941|343945|343950|343953|343957|343958|345397|345400|345402|345410|345413|345417|402077|467207|467210|467385|483114|530653|530655|530659|530813|530910|530912|570830|570914|584316|610470|620577|620578|620579|645429|645430|645431|684666|688752|688754|688755|844837|844838|844839|851697|877092|877093|877094|877095|877096|877097|877098|877099|877100|877101|877102|877103|877104|877105|877106|877107|877108|877109|877110|877111|877112|877113|877114|877115|877116|880491|880492|928091|928092|937759|958017|958018|958019|958020", + "upstreamId": "16527|191732|195791|195791|222561|242616|242617|256108|256109|327902|327906|327910|327911|327915|327919|327921|337719|337723|337725|337729|337736|337738|337743|343939|343941|343945|343950|343953|343957|343958|345397|345400|345402|345410|345413|345417|402077|467207|467210|467385|483114|530653|530655|530659|530813|530910|530912|570830|570914|584316|610470|620577|620578|620579|645429|645430|645431|684666|688752|688754|688755|844837|844838|844839|851697|877092|877093|877094|877095|877096|877097|877098|877099|877100|877101|877102|877103|877104|877105|877106|877107|877108|877109|877110|877111|877112|877113|877114|877115|877116|880491|880492|928091|928092|937759|958017|958018|958019|958020", "text": "Nephronophthisis 9" }, { - "baseId": "16528|424690|858306|858792|918181", + "upstreamId": "16528|424690|858306|858792|918181", "text": "Hermansky-Pudlak syndrome 8" }, { - "baseId": "16529|16530|16531|16532|16533|16534|16535|16536|165838|176306|176411|176412|176426|195608|227416|231209|231217|270035|270996|271877|275023|389254|389255|443697|486666|508414|513668|538499|553273|614609|614610|615831|615832|615833|615834|626285|758085|800188|800189|816496|919952", + "upstreamId": "16529|16530|16531|16532|16533|16534|16535|16536|165838|176306|176411|176412|176426|195608|227416|231209|231217|270035|270996|271877|275023|389254|389255|443697|486666|508414|513668|538499|553273|614609|614610|615831|615832|615833|615834|626285|758085|800188|800189|816496|919952", "text": "Deafness, autosomal recessive 28" }, { - "baseId": "16537|16538|16539|16540|16541|16542|16543|205187|213647|237439|256457|256458|256459|256460|330042|330047|330049|330052|330060|330062|330066|330067|330073|330079|330080|330081|330085|330087|330091|330093|330102|330104|330105|330106|330119|330121|330129|330134|330135|330138|330144|340265|340268|340271|340273|340275|340277|340278|340283|340285|340290|340293|340295|340301|340302|340304|340309|340317|340318|340320|340325|340326|340330|340331|340334|340335|340343|346021|346029|346030|346036|346038|346040|346041|346042|346043|346044|346046|346047|346050|346054|346055|346060|346061|346062|346064|346065|346071|346072|346074|346075|346077|346078|346079|346080|347330|347331|347336|347338|347341|347342|347345|347349|347350|347357|347358|347360|347362|347364|347365|347369|347371|347372|347373|347376|347378|347380|347381|347384|438965|538470|568672|569757|571606|646722|715717|715718|715719|715720|727451|727452|727453|741047|741048|741050|741051|756144|756145|756147|756148|756149|771849|771850|771851|771852|776400|776401|785750|785752|788184|792810|821157|821158|846244|846245|846246|852793|878530|878531|878532|878533|878534|878535|878536|878537|878538|878539|878540|878541|878542|878543|878544|878545|878546|878547|878548|878549|878550|878551|878552|878553|878554|878555|878556|878557|878558|878559|878560|878561|878562|878563|878564|878565|878566|878567|878568|878569|878570|878571|878572|878573|878574|878575|878576|878577|878578|878579|878580|878581|878582|878583|878584|878585|878586|878587|878588|880599|880600|880601|880602|940439|962053|965605|965656|979923|979924|979925", + "upstreamId": "16537|16538|16539|16540|16541|16542|16543|205187|213647|237439|256457|256458|256459|256460|330042|330047|330049|330052|330060|330062|330066|330067|330073|330079|330080|330081|330085|330087|330091|330093|330102|330104|330105|330106|330119|330121|330129|330134|330135|330138|330144|340265|340268|340271|340273|340275|340277|340278|340283|340285|340290|340293|340295|340301|340302|340304|340309|340317|340318|340320|340325|340326|340330|340331|340334|340335|340343|346021|346029|346030|346036|346038|346040|346041|346042|346043|346044|346046|346047|346050|346054|346055|346060|346061|346062|346064|346065|346071|346072|346074|346075|346077|346078|346079|346080|347330|347331|347336|347338|347341|347342|347345|347349|347350|347357|347358|347360|347362|347364|347365|347369|347371|347372|347373|347376|347378|347380|347381|347384|438965|538470|568672|569757|571606|646722|715717|715718|715719|715720|727451|727452|727453|741047|741048|741050|741051|756144|756145|756147|756148|756149|771849|771850|771851|771852|776400|776401|785750|785752|788184|792810|821157|821158|846244|846245|846246|852793|878530|878531|878532|878533|878534|878535|878536|878537|878538|878539|878540|878541|878542|878543|878544|878545|878546|878547|878548|878549|878550|878551|878552|878553|878554|878555|878556|878557|878558|878559|878560|878561|878562|878563|878564|878565|878566|878567|878568|878569|878570|878571|878572|878573|878574|878575|878576|878577|878578|878579|878580|878581|878582|878583|878584|878585|878586|878587|878588|880599|880600|880601|880602|940439|962053|965605|965656|979923|979924|979925", "text": "Peroxisomal acyl-CoA oxidase deficiency" }, { - "baseId": "16544|16545|16546|16548|16549|16550|16552|16552|16553|16554|16555|16556|16557|227202|237092|237092|249415|249416|263974|263974|276575|276576|276577|276589|276590|276835|276838|276844|276845|276846|276864|276865|276866|276870|276872|277385|277387|277390|277393|277397|277406|277412|277425|277493|277496|277500|277507|277515|277531|277533|277534|277535|277536|442635|513235|578365|614553|619954|619955|619956|696141|789854|804879|862398|862399|862400|862401|862402|862403|862404|862405|862406|862407|862408|862409|862410|862411|862412|862413|862414|862415|862416|862417|862418|864989|864990|864991|864992|864993|864994|970662", + "upstreamId": "16544|16545|16546|16548|16549|16550|16552|16552|16553|16554|16555|16556|16557|227202|237092|237092|249415|249416|263974|263974|276575|276576|276577|276589|276590|276835|276838|276844|276845|276846|276864|276865|276866|276870|276872|277385|277387|277390|277393|277397|277406|277412|277425|277493|277496|277500|277507|277515|277531|277533|277534|277535|277536|442635|513235|578365|614553|619954|619955|619956|696141|789854|804879|862398|862399|862400|862401|862402|862403|862404|862405|862406|862407|862408|862409|862410|862411|862412|862413|862414|862415|862416|862417|862418|864989|864990|864991|864992|864993|864994|970662", "text": "Pyruvate kinase deficiency of red cells" }, { - "baseId": "16551|16552|16552|237092|263974|442635", + "upstreamId": "16551|16552|16552|237092|263974|442635", "text": "Adenosine triphosphate, elevated, of erythrocytes" }, { - "baseId": "16558|16559|16560|16561|16561|16562|16563|16564|16565|16566|16567|16568|16569|16570|16571|16572|16573|16574|16575|16576|16577|16578|16579|16580|16581|16582|16583|16584|16585|16586|16587|16589|16590|16591|16592|16593|16595|16596|16597|48634|167953|167957|228248|228249|304769|304770|304771|304779|304781|304784|304786|308436|308437|308438|308439|308441|308445|308447|308451|308459|308469|308479|308485|308491|308493|308496|308498|308517|308525|313559|313561|313563|313575|313598|313599|313600|313602|313603|313605|313609|313610|313618|313650|313651|313655|313656|313657|313660|313664|313668|313670|313671|313672|313676|313677|313690|313699|313703|313721|313722|313723|487330|487375|487383|513294|514566|620297|722988|722989|736574|751056|751057|751059|766711|766712|766713|766714|766722|783066|783071|899228|899229|899230|899231|899232|899233|899234|899235|899236|899237|899238|899239|899240|899241|899242|899243|899244|899245|899246|899247|899248|899249|899250|899251|899252|899253|899254|899255|899256|899257|899258|899259|899260|899261|899262|899263|900464|961855|961856|966454|967100|978461|978462|978463|978464", + "upstreamId": "16558|16559|16560|16561|16561|16562|16563|16564|16565|16566|16567|16568|16569|16570|16571|16572|16573|16574|16575|16576|16577|16578|16579|16580|16581|16582|16583|16584|16585|16586|16587|16589|16590|16591|16592|16593|16595|16596|16597|48634|167953|167957|228248|228249|304769|304770|304771|304779|304781|304784|304786|308436|308437|308438|308439|308441|308445|308447|308451|308459|308469|308479|308485|308491|308493|308496|308498|308517|308525|313559|313561|313563|313575|313598|313599|313600|313602|313603|313605|313609|313610|313618|313650|313651|313655|313656|313657|313660|313664|313668|313670|313671|313672|313676|313677|313690|313699|313703|313721|313722|313723|487330|487375|487383|513294|514566|620297|722988|722989|736574|751056|751057|751059|766711|766712|766713|766714|766722|783066|783071|899228|899229|899230|899231|899232|899233|899234|899235|899236|899237|899238|899239|899240|899241|899242|899243|899244|899245|899246|899247|899248|899249|899250|899251|899252|899253|899254|899255|899256|899257|899258|899259|899260|899261|899262|899263|900464|961855|961856|966454|967100|978461|978462|978463|978464", "text": "Hyperlipoproteinemia, type I" }, { - "baseId": "16561|16561|16566|16568|16569|16579|16589|411513|511752|970879", + "upstreamId": "16561|16561|16566|16568|16569|16579|16589|411513|511752|970879", "text": "Hyperlipidemia, familial combined, LPL related" }, { - "baseId": "16573", + "upstreamId": "16573", "text": "LIPOPROTEIN LIPASE POLYMORPHISM" }, { - "baseId": "16577", + "upstreamId": "16577", "text": "Lpl-arita" }, { - "baseId": "16588|16589|16591|16594|27333|27334", + "upstreamId": "16588|16589|16591|16594|27333|27334", "text": "Hyperlipidemia, familial combined, susceptibility to" }, { - "baseId": "16591|32943|143193|143194|143195", + "upstreamId": "16591|32943|143193|143194|143195", "text": "Coronary heart disease" }, { - "baseId": "16595", + "upstreamId": "16595", "text": "LIPOPROTEIN LIPASE (OLBIA)" }, { - "baseId": "16598|48634", + "upstreamId": "16598|48634", "text": "High density lipoprotein cholesterol level quantitative trait locus 11" }, { - "baseId": 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+ "upstreamId": 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"text": "Mucopolysaccharidosis, MPS-III-B" }, { - "baseId": "16599|16600|16601|16602|16603|16604|16605|16606|16610|16611|39752|98604|152906|177157|200975|237435|265243|272277|274557|274815|328519|328521|328522|328524|338469|338479|344551|345951|345958|358436|468077|487839|488906|512959|513465|531265|539071|539071|548160|548417|548425|548453|548454|548470|548497|548904|548916|548939|569051|569053|574461|574462|620589|645901|645902|645903|645904|645905|704146|715460|715461|715462|727184|727185|727186|731150|740757|740758|740759|744975|755854|755855|755856|771507|771508|771509|771510|771511|771513|771516|771517|771518|771519|771520|785566|785569|785572|785573|845342|845343|845344|845345|845346|845347|852743|937932|937933|937934|937935|949921|949922|958107|958108|958109|958110|958111|958112", + "upstreamId": 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"text": "8 conditions" }, { - "baseId": "16612|16613|16614|16615|16615|16616|236948|316202|316206|316206|323517|323518|323518|323528|323533|323536|323537|323538|329699|329699|329701|329701|329707|330953|330956|462460|503564|526618|526707|526710|526876|526949|526956|526956|527273|527273|565093|565098|566391|640665|640666|640667|713390|730843|738506|753167|820447|839370|839371|839372|839373|839374|839375|869414|869415|869416|869417|869418|869419|869420|869421|869422|869423|872195|872196|935934|935935|935936|947807|947808|956763|956764", + "upstreamId": 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+ "upstreamId": 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"text": "Usher syndrome, type 2C" }, { - "baseId": 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+ "upstreamId": 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"text": "Hydatidiform mole, recurrent, 1" }, { - "baseId": "16633|16634|142160|406756|488088|488090", + "upstreamId": "16633|16634|142160|406756|488088|488090", "text": "Mitochondrial complex 1 deficiency, nuclear type 10" }, { - "baseId": 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"text": "Mitochondrial complex I deficiency, nuclear type 1" }, { - "baseId": 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+ "upstreamId": 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"text": "Familial cold autoinflammatory syndrome 2" }, { - "baseId": "16637|16638|400211", + "upstreamId": "16637|16638|400211", "text": "Fanconi anemia, complementation group M" }, { - "baseId": "16639|16640|16641|39751|404967|413892|413893|798457", + "upstreamId": "16639|16640|16641|39751|404967|413892|413893|798457", "text": "Ectodermal dysplasia-syndactyly syndrome 1" }, { - "baseId": "16642|16643", + "upstreamId": "16642|16643", "text": "Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal" }, { - "baseId": "16644", + "upstreamId": "16644", "text": "Palmoplantar hyperkeratosis and true hermaphroditism" }, { - "baseId": "16645|226288|226289|904120|904121", + "upstreamId": "16645|226288|226289|904120|904121", "text": "Sideroblastic anemia 3, pyridoxine-refractory" }, { - "baseId": "16646|16647|16648|16649|16650|16651|39750|169067|169069|196332|208099|208101|208103|376074|429562|429563|429566|429571|429573|550016|566489|566490|568081|568089|568936|572810|642483|714142|714143|725677|739217|769815|820624|841537|841538|841539|841540|861133|861139|919528|927092|957229|961416|961873", + "upstreamId": "16646|16647|16648|16649|16650|16651|39750|169067|169069|196332|208099|208101|208103|376074|429562|429563|429566|429571|429573|550016|566489|566490|568081|568089|568936|572810|642483|714142|714143|725677|739217|769815|820624|841537|841538|841539|841540|861133|861139|919528|927092|957229|961416|961873", "text": "L-2-hydroxyglutaric aciduria" }, { - "baseId": 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+ "upstreamId": 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"text": "Three M syndrome 1" }, { - "baseId": "16655", + "upstreamId": "16655", "text": "Yakut short stature syndrome" }, { - "baseId": 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"text": "Very long chain acyl-CoA dehydrogenase deficiency" }, { - "baseId": "16673|20938|23992|27992|187120|200340|208349|361026|512449|539122|539137|539161|792691|801182", + "upstreamId": "16673|20938|23992|27992|187120|200340|208349|361026|512449|539122|539137|539161|792691|801182", "text": "Rhabdomyolysis" }, { - "baseId": "16673|801182", + "upstreamId": "16673|801182", "text": "Abnormality of circulating enzyme level" }, { - "baseId": 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+ "upstreamId": "16675|16676|16677|16678|16679|16680|16681|16682|16683|186955|186956|186957|186958|186959|186960|260160|260161|264755|267970|327649|327655|327659|327661|327665|327671|327676|327677|327678|327682|327683|327687|327702|337460|337461|337468|337470|337471|337473|337476|337480|343715|343717|343719|343721|343726|343728|343732|343733|343734|343738|345177|345178|345179|345180|345183|345185|345186|345201|345204|345207|358393|358394|358395|358396|358397|358398|358399|358400|358401|358402|358403|358404|358405|358406|358407|358408|358409|358410|431883|431884|431885|487670|487677|487679|513368|547979|547988|547995|548003|548007|548011|548016|548024|548026|548031|548033|548038|548039|548276|548282|548287|548288|548290|548291|548755|548758|548760|548761|548763|548764|548769|578538|610422|612318|620576|740643|740644|755701|771310|771311|771312|771315|785484|791687|792803|804830|876996|876997|876998|876999|877000|877001|877002|877003|877004|877005|877006|877007|877008|877009|877010|877011|877012|877013|877014|877015|877016|877017|877018|877019|877020|877021|880487|965860|972262|972263|972264|972265|972266|972267|972268|972269|979886", "text": "Sj\u00f6gren-Larsson syndrome" }, { - "baseId": "16684|16685|16686|16687|16688|16689|16690|40310|40311|227322|305387|305388|305390|305391|305393|305399|305402|309195|309198|309216|309220|309232|309234|309242|314476|314484|314490|314497|314498|314510|314524|314525|314557|314564|314568|314585|353839|413775|421679|438390|438391|441237|457855|457864|458508|458514|458918|511756|523898|523907|524172|562420|562422|565135|565139|567930|637218|637219|651971|651978|679760|679957|687293|798600|798601|805577|834768|834769|834770|899632|899633|899634|899635|899636|899637|899638|899639|899640|899641|899642|899643|899644|919156|920255|925204|946075|955415|960653|964667", + "upstreamId": "16684|16685|16686|16687|16688|16689|16690|40310|40311|227322|305387|305388|305390|305391|305393|305399|305402|309195|309198|309216|309220|309232|309234|309242|314476|314484|314490|314497|314498|314510|314524|314525|314557|314564|314568|314585|353839|413775|421679|438390|438391|441237|457855|457864|458508|458514|458918|511756|523898|523907|524172|562420|562422|565135|565139|567930|637218|637219|651971|651978|679760|679957|687293|798600|798601|805577|834768|834769|834770|899632|899633|899634|899635|899636|899637|899638|899639|899640|899641|899642|899643|899644|919156|920255|925204|946075|955415|960653|964667", "text": "Torsion dystonia 6" }, { - "baseId": "16691|16692|16693|16694|34357|34358|34359|34359|44141|103891|103892|103893|251291|251291|291683|291688|291692|291692|291700|291703|291704|293021|293023|293023|293025|293025|293028|293029|293042|293046|296287|296308|296310|296311|296342|296355|296355|296357|296364|296365|559682|691486|691486|695217|709053|720645|828574|859301|889721|889722|889723|889724|889725|889726|889727|889728|889729|889730|889731|889732|889733|889734|889735|889736|889737|891709|923359", + "upstreamId": "16691|16692|16693|16694|34357|34358|34359|34359|44141|103891|103892|103893|251291|251291|291683|291688|291692|291692|291700|291703|291704|293021|293023|293023|293025|293025|293028|293029|293042|293046|296287|296308|296310|296311|296342|296355|296355|296357|296364|296365|559682|691486|691486|695217|709053|720645|828574|859301|889721|889722|889723|889724|889725|889726|889727|889728|889729|889730|889731|889732|889733|889734|889735|889736|889737|891709|923359", "text": "Frontotemporal dementia, chromosome 3-linked" }, { - "baseId": "16695|268646|431738|481856|513993|513994|551560|590286|609733|799591|919227", + "upstreamId": "16695|268646|431738|481856|513993|513994|551560|590286|609733|799591|919227", "text": "Retinitis pigmentosa 31" }, { - "baseId": "16697|16708|17173|264701|318161|318162|318163|318167|326143|326148|326151|326165|332322|332326|332328|332329|332331|333912|333913|333932|333933|333936|372536|513614|620448|760040|791268|870232|870233|870234|870235|870236|870237|870238|870239|870240|870241|870242|870243|870244|870245|870246", + "upstreamId": "16697|16708|17173|264701|318161|318162|318163|318167|326143|326148|326151|326165|332322|332326|332328|332329|332331|333912|333913|333932|333933|333936|372536|513614|620448|760040|791268|870232|870233|870234|870235|870236|870237|870238|870239|870240|870241|870242|870243|870244|870245|870246", "text": "Vitamin D-dependent rickets, type 1" }, { - "baseId": "16697|16698|16699|16700|16701|16702|16703|16704|16705|16706|16707|16708|16709|16710|16711|16712|16713", + "upstreamId": "16697|16698|16699|16700|16701|16702|16703|16704|16705|16706|16707|16708|16709|16710|16711|16712|16713", "text": "Vitamin D-dependent rickets type 1A" }, { - "baseId": "16714|16715|16716|16717|16718|16719|16720|16721|16722|101218|101219|291847|291851|291853|291854|291855|291862|291864|291868|291877|291879|293216|293217|293221|293222|293223|293238|293239|293240|293242|293257|293259|293266|293269|293275|296532|296533|296534|296536|296539|296540|296563|296575|296580|296587|296590|296592|296593|296594|439302|452826|453189|513265|519686|519688|519945|576109|581872|620769|621166|631846|631847|709098|709099|709100|709101|774868|779080|819435|828645|828646|851582|889818|889819|889820|889821|889822|889823|889824|889825|889826|889827|889828|889829|889830|889831|889832|889833|889834|891722|891723|891724|916921|932108|932109|963560|973009", + "upstreamId": "16714|16715|16716|16717|16718|16719|16720|16721|16722|101218|101219|291847|291851|291853|291854|291855|291862|291864|291868|291877|291879|293216|293217|293221|293222|293223|293238|293239|293240|293242|293257|293259|293266|293269|293275|296532|296533|296534|296536|296539|296540|296563|296575|296580|296587|296590|296592|296593|296594|439302|452826|453189|513265|519686|519688|519945|576109|581872|620769|621166|631846|631847|709098|709099|709100|709101|774868|779080|819435|828645|828646|851582|889818|889819|889820|889821|889822|889823|889824|889825|889826|889827|889828|889829|889830|889831|889832|889833|889834|891722|891723|891724|916921|932108|932109|963560|973009", "text": "Beta-D-mannosidosis" }, { - "baseId": "16723|16724|16725|16726|16727|34059|34060|34061|34062|99114|99117|99121|99122|99124|99125|135030|187033|187034|192626|193442|194844|194845|204485|204486|204487|204488|204489|204490|204491|204492|204493|204494|204495|204496|204497|204498|204499|204500|204501|204502|204503|204504|204505|204506|204507|204508|204509|204510|204511|204512|204513|204514|204515|204516|204517|204518|204519|204520|215562|237252|237427|265389|270901|271823|274266|332610|332611|332618|332625|332627|332629|332630|332631|332636|332638|332640|332643|332646|332649|342815|342816|342819|342824|342825|342838|342841|348129|348130|348131|348138|348141|348144|348147|348148|348149|348152|349376|349379|349380|349383|349384|349387|349388|358566|358567|358568|358569|358570|358571|358572|358573|358574|358575|358576|358577|358578|358579|358580|358581|358582|358583|358584|358585|410474|426282|433679|446031|446032|469809|470446|512381|532700|532716|538483|548669|548672|548675|548678|548683|548684|548685|548687|548688|548689|548690|548691|548692|548694|548695|548697|548699|548700|549043|549044|549046|549050|549052|549064|549065|549067|549069|549322|549323|549324|549325|549326|549327|549328|549329|549330|549783|549785|549787|550635|572910|572918|578563|612329|620627|620628|621629|647696|647697|647698|647699|647700|647701|647702|652941|653146|653490|653597|653598|653896|716169|716170|716171|716172|716173|716174|716175|716176|716177|727902|727903|727904|727905|727906|727907|731244|731245|741578|741579|741580|741581|741582|741583|741584|745215|756710|756711|756712|756713|756714|756715|756716|760797|760801|772397|772398|772399|772400|772403|772405|772408|772409|772410|772411|772414|776557|776664|776667|776669|776843|776844|786054|786055|786056|786058|786061|788250|800621|801736|847279|847280|847281|847282|847283|847284|847285|847286|847287|847288|847289|847290|847291|847292|852853|879946|879947|879948|879949|879950|879951|879952|879953|879954|879955|879956|879957|879958|879959|879960|879961|879962|879963|879964|879965|879966|879967|879968|879969|880693|880694|880695|880696|880697|880698|928841|928842|928843|928844|928845|928846|928847|928848|928849|938576|938577|938578|940470|950670|950671|958533|958534|958535|958536|958537|961888|963304|963870|965867|972307|972308|972309|972310|972311|972312|972313|972314|972315|972316|972317|972318|972319|972320|972321|972322|972323|972324|972325|972326|979962|979963|979964|979965|979966|979967|979968|979969|979970", + "upstreamId": "16723|16724|16725|16726|16727|34059|34060|34061|34062|99114|99117|99121|99122|99124|99125|135030|187033|187034|192626|193442|194844|194845|204485|204486|204487|204488|204489|204490|204491|204492|204493|204494|204495|204496|204497|204498|204499|204500|204501|204502|204503|204504|204505|204506|204507|204508|204509|204510|204511|204512|204513|204514|204515|204516|204517|204518|204519|204520|215562|237252|237427|265389|270901|271823|274266|332610|332611|332618|332625|332627|332629|332630|332631|332636|332638|332640|332643|332646|332649|342815|342816|342819|342824|342825|342838|342841|348129|348130|348131|348138|348141|348144|348147|348148|348149|348152|349376|349379|349380|349383|349384|349387|349388|358566|358567|358568|358569|358570|358571|358572|358573|358574|358575|358576|358577|358578|358579|358580|358581|358582|358583|358584|358585|410474|426282|433679|446031|446032|469809|470446|512381|532700|532716|538483|548669|548672|548675|548678|548683|548684|548685|548687|548688|548689|548690|548691|548692|548694|548695|548697|548699|548700|549043|549044|549046|549050|549052|549064|549065|549067|549069|549322|549323|549324|549325|549326|549327|549328|549329|549330|549783|549785|549787|550635|572910|572918|578563|612329|620627|620628|621629|647696|647697|647698|647699|647700|647701|647702|652941|653146|653490|653597|653598|653896|716169|716170|716171|716172|716173|716174|716175|716176|716177|727902|727903|727904|727905|727906|727907|731244|731245|741578|741579|741580|741581|741582|741583|741584|745215|756710|756711|756712|756713|756714|756715|756716|760797|760801|772397|772398|772399|772400|772403|772405|772408|772409|772410|772411|772414|776557|776664|776667|776669|776843|776844|786054|786055|786056|786058|786061|788250|800621|801736|847279|847280|847281|847282|847283|847284|847285|847286|847287|847288|847289|847290|847291|847292|852853|879946|879947|879948|879949|879950|879951|879952|879953|879954|879955|879956|879957|879958|879959|879960|879961|879962|879963|879964|879965|879966|879967|879968|879969|880693|880694|880695|880696|880697|880698|928841|928842|928843|928844|928845|928846|928847|928848|928849|938576|938577|938578|940470|950670|950671|958533|958534|958535|958536|958537|961888|963304|963870|965867|972307|972308|972309|972310|972311|972312|972313|972314|972315|972316|972317|972318|972319|972320|972321|972322|972323|972324|972325|972326|979962|979963|979964|979965|979966|979967|979968|979969|979970", "text": "Deficiency of alpha-mannosidase" }, { - "baseId": "16728|16729|16730|16731|227693|318709|318710|318717|318719|318720|318721|318723|318725|318728|318730|318731|318733|318736|318737|327036|327046|327068|327069|327072|327073|327074|327076|327078|327080|327081|327083|327087|327088|333121|333139|333140|333141|333142|333143|333159|333166|333171|333174|333176|333180|333182|333183|333185|333187|333188|333194|333196|333201|333202|334861|334870|334871|334874|334889|334890|334894|334903|334905|334906|334917|334923|334924|334931|334932|334936|353259|620461|620853|620854|702555|738904|779576|870562|870563|870564|870565|870566|870567|870568|870569|870570|870571|870572|870573|870574|870575|870576|870577|870578|870579|870580|870581|870582|870583|870584|870585|870586|870587|870588|870589|870590|870591|870592|870593|870594|870595|870596|870597|870598|870599|870600|872296", + "upstreamId": "16728|16729|16730|16731|227693|318709|318710|318717|318719|318720|318721|318723|318725|318728|318730|318731|318733|318736|318737|327036|327046|327068|327069|327072|327073|327074|327076|327078|327080|327081|327083|327087|327088|333121|333139|333140|333141|333142|333143|333159|333166|333171|333174|333176|333180|333182|333183|333185|333187|333188|333194|333196|333201|333202|334861|334870|334871|334874|334889|334890|334894|334903|334905|334906|334917|334923|334924|334931|334932|334936|353259|620461|620853|620854|702555|738904|779576|870562|870563|870564|870565|870566|870567|870568|870569|870570|870571|870572|870573|870574|870575|870576|870577|870578|870579|870580|870581|870582|870583|870584|870585|870586|870587|870588|870589|870590|870591|870592|870593|870594|870595|870596|870597|870598|870599|870600|872296", "text": "Histidinemia" }, { - "baseId": "16732", + "upstreamId": "16732", "text": "Hurthle cell carcinoma of thyroid" }, { - "baseId": "16733|16734|16735|16736|229480|299946|299948|299957|299961|299968|299969|299974|299979|299989|300015|300018|302621|302623|302631|302635|302636|302640|302641|302644|302645|302647|302662|302686|302693|302699|306993|306995|306997|307002|307006|307007|307020|307047|307049|307257|307265|307269|307284|307310|307320|362595|389224|553258|578448|735641|895878|895879|895880|895881|895882|895883|895884|895885|895886|895887|895888|895889|895890|895891|895892|895893|895894|895895|895896|895897|895898|895899|895900|895901|895902|895903", + "upstreamId": "16733|16734|16735|16736|229480|299946|299948|299957|299961|299968|299969|299974|299979|299989|300015|300018|302621|302623|302631|302635|302636|302640|302641|302644|302645|302647|302662|302686|302693|302699|306993|306995|306997|307002|307006|307007|307020|307047|307049|307257|307265|307269|307284|307310|307320|362595|389224|553258|578448|735641|895878|895879|895880|895881|895882|895883|895884|895885|895886|895887|895888|895889|895890|895891|895892|895893|895894|895895|895896|895897|895898|895899|895900|895901|895902|895903", "text": "Deafness, autosomal recessive 67" }, { - "baseId": "16737|16738|51092|224980|224981|227233|284270|284273|284274|284282|284283|284288|284302|284314|284315|284319|284323|284324|284327|284328|284329|284331|284336|284338|284342|284345|284346|284352|284354|284359|284360|284364|284366|284367|284369|284996|285003|285005|285011|285012|285013|285014|285016|285020|285022|285023|285024|285026|285028|285032|285036|285038|285039|285040|285042|285043|285046|285047|285048|285050|286979|286984|286994|287000|287005|287006|287007|287009|287010|287015|287022|287023|287025|287029|287030|287032|287040|287041|287053|287055|287075|287080|287083|287084|287101|287110|287119|287349|287351|287352|287363|287364|287365|287369|287373|287376|287392|287396|287398|287399|287461|287466|287467|287468|287469|287475|287476|287480|287490|287492|353555|353556|620051|697274|883543|883544|883545|883546|883547|883548|883549|883550|883551|883552|883553|883554|883555|883556|883557|883558|883559|883560|883561|883562|883563|883564|883565|883566|883567|883568|883569|883570|883571|883572|883573|883574|883575|883576|883577|883578|883579|883580|883581|883582|883583|883584|883585|883586|883587|883588|883589|883590|883591|883592|887247|887248|887249|887250|887251|887252|887253|887254|887255|887256", + "upstreamId": 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"text": "Fleck corneal dystrophy" }, { - "baseId": 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+ "upstreamId": 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"text": "Cockayne syndrome B" }, { - "baseId": "16740|16742|16746|16750|40257|88864|187986|187988|187991|187992|187993|187995|187996|187997|187999|188000|188004|188006|188009|207742|209352|227716|267792|310413|310422|310447|310452|315528|315553|315583|321541|321580|322307|322309|421792|491919|493589|545050|545054|545059|545062|545064|545066|545076|545081|545082|545084|545092|545094|545387|545389|545392|545394|545400|545403|545412|545422|545427|545429|545431|545432|545433|545434|545435|545437|545446|545449|545452|545454|545459|545472|545474|545475|545477|545669|545670|545685|545688|545689|545690|545695|545698|545700|545702|545703|545704|545706|545708|545710|545723|790960|790961|790962|818719", + "upstreamId": "16740|16742|16746|16750|40257|88864|187986|187988|187991|187992|187993|187995|187996|187997|187999|188000|188004|188006|188009|207742|209352|227716|267792|310413|310422|310447|310452|315528|315553|315583|321541|321580|322307|322309|421792|491919|493589|545050|545054|545059|545062|545064|545066|545076|545081|545082|545084|545092|545094|545387|545389|545392|545394|545400|545403|545412|545422|545427|545429|545431|545432|545433|545434|545435|545437|545446|545449|545452|545454|545459|545472|545474|545475|545477|545669|545670|545685|545688|545689|545690|545695|545698|545700|545702|545703|545704|545706|545708|545710|545723|790960|790961|790962|818719", "text": "DE SANCTIS-CACCHIONE SYNDROME" }, { - "baseId": "16740|16750|187999|322325|620362|620363|620364|626197", + "upstreamId": "16740|16750|187999|322325|620362|620363|620364|626197", "text": "ERCC6-Related Disorders" }, { - "baseId": 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+ "upstreamId": 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"text": "Cerebrooculofacioskeletal syndrome 1" }, { - "baseId": 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+ "upstreamId": 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"text": "Age-related macular degeneration 5" }, { - "baseId": "16747", + "upstreamId": "16747", "text": "UV-sensitive syndrome 1" }, { - "baseId": "16748|31535|31556", + "upstreamId": "16748|31535|31556", "text": "LUNG CANCER, SUSCEPTIBILITY TO" }, { - "baseId": 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"16753|16754|16755|16756|16757|79645|187981|187982|187983|190958|196149|272557|297902|297911|297917|297919|297922|297923|297927|297930|297931|297932|300093|300097|300098|300099|300100|304328|304331|304354|304356|304360|304368|304691|304692|357419|384613|406755|406756|421550|423862|536698|536698|543431|543433|543435|543437|543438|543443|543445|543446|543449|543701|543702|543704|543753|543771|543775|543778|543780|543782|543786|543788|543789|543861|543866|543867|543869|543869|543873|543875|543876|543879|578013|581726|609081|623140|686762|691875|765160|798562|858721|894577|894578|894579|894580|894581|894582|894583|894584|894585|894586|894587|894588|894589|894590|894591|894592|894593|894594|896122|962059|963236|971870|971871|971872|971873|971874|971875|971876", "text": "Cockayne syndrome type A" }, { - "baseId": "16755|31619|31817|70482|70487|134454|134459|134460|134461|134462|134463|134464|134465|134466|135137|137870|137873|137874|137876|137877|137880|137881|137882|137883|137884|137887|137889|137891|137892|137897|187995|188003|188007|188009|191753|193374|215505|237323|242189|242190|242191|242192|247041|255456|255457|259255|271456|297932|297944|300095|304363|310384|310391|310392|310405|310413|310414|310463|315483|315490|315526|315555|321491|321510|321549|321588|322273|322279|322288|322302|322309|322331|333738|340492|341868|341877|341879|353732|360919|400521|400523|400529|400665|400667|401098|401100|401337|413430|429758|429759|465041|465045|465053|465057|465726|465919|529246|529434|529436|529444|529465|529466|529467|529771|529772|529774|567671|567677|567678|569972|569973|573713|643908|643909|643910|643911|643912|643913|643914|643915|643916|643917|643918|643919|643920|643921|652453|684573|684574|684577|688527|692846|739952|754899|797245|820765|843092|843093|843094|843095|843096|843097|843098|843099|843100|843101|843102|843103|843104|843105|843106|843107|843108|843109|843110|843111|843112|851649|851651|852620|927558|927559|927560|927561|927562|927563|927564|937217|937218|937219|937220|940343|949164|949165|949166|949167|957624|957625|957626|957627|960834|970356", + "upstreamId": "16755|31619|31817|70482|70487|134454|134459|134460|134461|134462|134463|134464|134465|134466|135137|137870|137873|137874|137876|137877|137880|137881|137882|137883|137884|137887|137889|137891|137892|137897|187995|188003|188007|188009|191753|193374|215505|237323|242189|242190|242191|242192|247041|255456|255457|259255|271456|297932|297944|300095|304363|310384|310391|310392|310405|310413|310414|310463|315483|315490|315526|315555|321491|321510|321549|321588|322273|322279|322288|322302|322309|322331|333738|340492|341868|341877|341879|353732|360919|400521|400523|400529|400665|400667|401098|401100|401337|413430|429758|429759|465041|465045|465053|465057|465726|465919|529246|529434|529436|529444|529465|529466|529467|529771|529772|529774|567671|567677|567678|569972|569973|573713|643908|643909|643910|643911|643912|643913|643914|643915|643916|643917|643918|643919|643920|643921|652453|684573|684574|684577|688527|692846|739952|754899|797245|820765|843092|843093|843094|843095|843096|843097|843098|843099|843100|843101|843102|843103|843104|843105|843106|843107|843108|843109|843110|843111|843112|851649|851651|852620|927558|927559|927560|927561|927562|927563|927564|937217|937218|937219|937220|940343|949164|949165|949166|949167|957624|957625|957626|957627|960834|970356", "text": "Cockayne syndrome" }, { - "baseId": "16758|16759", + "upstreamId": "16758|16759", "text": "Preeclampsia/eclampsia 4" }, { - "baseId": "16760|16761|16762|16763|141077|141077|141078|141078|141079|141080|165818|165819|165820|212515|213812|221621|231652|249211|249214|252051|252053|252054|252054|252055|252056|252057|298724|298725|298731|298744|301199|301202|301203|301204|301206|301208|301209|301210|301213|301214|301219|305557|305565|305566|305567|305569|305570|305571|305582|305587|305686|305687|305691|368286|368638|395001|406786|440905|521666|521916|578440|626307|651610|683001|683751|895193|895194|895195|895196|896177|896178|896179", + "upstreamId": "16760|16761|16762|16763|141077|141077|141078|141078|141079|141080|165818|165819|165820|212515|213812|221621|231652|249211|249214|252051|252053|252054|252054|252055|252056|252057|298724|298725|298731|298744|301199|301202|301203|301204|301206|301208|301209|301210|301213|301214|301219|305557|305565|305566|305567|305569|305570|305571|305582|305587|305686|305687|305691|368286|368638|395001|406786|440905|521666|521916|578440|626307|651610|683001|683751|895193|895194|895195|895196|896177|896178|896179", "text": "Charcot-Marie-Tooth disease, type 4J" }, { - "baseId": "16760|16762|16766|16767|141077|141077|141078|141078|141079|141080|212515|221621|231652|249211|249212|249213|249214|249215|252051|252053|252054|252054|252055|252056|252057|298724|298725|298731|298744|301199|301202|301203|301204|301206|301208|301209|301210|301213|301214|301219|305557|305565|305566|305567|305568|305569|305570|305571|305582|305587|305686|305687|305691|368286|368638|395001|406786|521666|521916|578440|651610|683001|683751|790574|895193|895194|895195|895196|896177|896178|896179", + "upstreamId": "16760|16762|16766|16767|141077|141077|141078|141078|141079|141080|212515|221621|231652|249211|249212|249213|249214|249215|252051|252053|252054|252054|252055|252056|252057|298724|298725|298731|298744|301199|301202|301203|301204|301206|301208|301209|301210|301213|301214|301219|305557|305565|305566|305567|305568|305569|305570|305571|305582|305587|305686|305687|305691|368286|368638|395001|406786|521666|521916|578440|651610|683001|683751|790574|895193|895194|895195|895196|896177|896178|896179", "text": "Amyotrophic lateral sclerosis type 11" }, { - "baseId": "16760|16762|38909|104217|165502|191839|213136|222425|237049|241567|242045|250808|264531|284698|288008|333845|384443|400111|400608|441283|481797|513590|610538|633837|683149|697294|719843|848494|861332|861333|861334|861335|861337|861339|861340|861341|861342|861345|861356|861357|861358|861387|861388|861390|861391|861394|861401|861402|861403|861404|861405|861406|861407|861408|861418|861422|861423|861425|873576|964785|964787|964788|964789|964790|964791|969094|969095|969096|969097|969098|969099|969100|969101|969102|969103|969104|969105|969106|969107|969108|969109|969110", + "upstreamId": "16760|16762|38909|104217|165502|191839|213136|222425|237049|241567|242045|250808|264531|284698|288008|333845|384443|400111|400608|441283|481797|513590|610538|633837|683149|697294|719843|848494|861332|861333|861334|861335|861337|861339|861340|861341|861342|861345|861356|861357|861358|861387|861388|861390|861391|861394|861401|861402|861403|861404|861405|861406|861407|861408|861418|861422|861423|861425|873576|964785|964787|964788|964789|964790|964791|969094|969095|969096|969097|969098|969099|969100|969101|969102|969103|969104|969105|969106|969107|969108|969109|969110", "text": "Amyotrophic lateral sclerosis" }, { - "baseId": "16760|16761|65664|65665|65666|65667|301209|384430|384431|395001|395176|406786|440905|626307|788789|918992|920218", + "upstreamId": "16760|16761|65664|65665|65666|65667|301209|384430|384431|395001|395176|406786|440905|626307|788789|918992|920218", "text": "Yunis-Varon syndrome" }, { - "baseId": "16768|16769|16770|16771|251833|251834|251835|251836|296684|296686|296687|296689|296695|296705|296706|296711|296712|296714|298536|298542|298543|298548|298549|298555|298557|298562|298563|302672|302675|302676|302678|302682|302684|302695|302696|302697|302965|302967|302971|302980|302989|302991|302995|303000|303001|303008|303013|303014|359546|622225|622226|626323|626324|626325|626326|626327|626328|626329|626330|626331|626332|626333|626334|626335|626336|626337|626338|626339|626340|626341|626342|626343|893739|893740|893741|893742|893743|893744|893745|893746|893747|893748|893749|893750|893751|893752|893753|893754|893755|893756|893757|893758|893759|893760|893761|896073", + "upstreamId": "16768|16769|16770|16771|251833|251834|251835|251836|296684|296686|296687|296689|296695|296705|296706|296711|296712|296714|298536|298542|298543|298548|298549|298555|298557|298562|298563|302672|302675|302676|302678|302682|302684|302695|302696|302697|302965|302967|302971|302980|302989|302991|302995|303000|303001|303008|303013|303014|359546|622225|622226|626323|626324|626325|626326|626327|626328|626329|626330|626331|626332|626333|626334|626335|626336|626337|626338|626339|626340|626341|626342|626343|893739|893740|893741|893742|893743|893744|893745|893746|893747|893748|893749|893750|893751|893752|893753|893754|893755|893756|893757|893758|893759|893760|893761|896073", "text": "Autosomal recessive congenital ichthyosis 6" }, { - "baseId": "16772|16773|45848|45849|45850|45851|45852|45853|48382|48383|48384|48385|142814|142815|142816|142817|142818|142819|142820|181281|181282|181283|190412|190413|195317|209446|209448|209449|209451|209452|209453|209454|209456|209457|209458|209459|209462|209463|209465|209466|209467|209469|209470|209472|209473|209474|209475|209480|209481|209482|209484|209486|209489|209491|209492|221089|224190|224191|226716|226717|228357|228358|238212|238217|249764|257944|257945|257946|359313|359326|364080|364674|364724|364811|364819|364908|364915|364920|364924|390973|390987|390988|390989|391048|391061|391067|391069|391073|391083|391086|405082|414765|425338|425342|433915|447532|447533|447643|447644|447682|447787|447788|447789|447792|447795|447797|447807|447808|447810|447833|447852|447853|498275|509137|509144|509149|509152|509157|509159|509160|511243|515461|515463|515502|515550|515551|515556|515567|515578|515587|515615|515617|556858|556860|556862|556874|557001|557003|557155|557162|557171|557173|557175|558357|614208|614209|627381|627382|627383|627384|627385|627386|627387|627388|627420|627421|627422|627423|627424|627425|627426|627427|627428|627429|650517|679733|683310|683312|685090|685625|685633|685635|695028|718766|718768|780597|799199|823485|823486|823487|823488|823489|823513|823514|823515|823516|823517|823518|823519|823520|823521|823522|921849|921850|921851|921852|921862|930330|930339|930340|930341|930342|930343|941775|941776|941777|952303|952306|952307", + "upstreamId": "16772|16773|45848|45849|45850|45851|45852|45853|48382|48383|48384|48385|142814|142815|142816|142817|142818|142819|142820|181281|181282|181283|190412|190413|195317|209446|209448|209449|209451|209452|209453|209454|209456|209457|209458|209459|209462|209463|209465|209466|209467|209469|209470|209472|209473|209474|209475|209480|209481|209482|209484|209486|209489|209491|209492|221089|224190|224191|226716|226717|228357|228358|238212|238217|249764|257944|257945|257946|359313|359326|364080|364674|364724|364811|364819|364908|364915|364920|364924|390973|390987|390988|390989|391048|391061|391067|391069|391073|391083|391086|405082|414765|425338|425342|433915|447532|447533|447643|447644|447682|447787|447788|447789|447792|447795|447797|447807|447808|447810|447833|447852|447853|498275|509137|509144|509149|509152|509157|509159|509160|511243|515461|515463|515502|515550|515551|515556|515567|515578|515587|515615|515617|556858|556860|556862|556874|557001|557003|557155|557162|557171|557173|557175|558357|614208|614209|627381|627382|627383|627384|627385|627386|627387|627388|627420|627421|627422|627423|627424|627425|627426|627427|627428|627429|650517|679733|683310|683312|685090|685625|685633|685635|695028|718766|718768|780597|799199|823485|823486|823487|823488|823489|823513|823514|823515|823516|823517|823518|823519|823520|823521|823522|921849|921850|921851|921852|921862|930330|930339|930340|930341|930342|930343|941775|941776|941777|952303|952306|952307", "text": "Shprintzen-Goldberg syndrome" }, { - "baseId": "16774|16775|16776|16777|16778|16779|34083|34084|34085|34086|34087|34088|34089|34090|34091|34092|34093|34094|34095|34096|34097|34098|34099|34101|34102|34103|34104|168585|168586|168587|168588|193459|193461|195273|207539|207540|253098|265638|271769|273926|305058|305062|305067|305068|305069|305075|305084|305085|305096|305098|305099|305101|305103|305105|308791|308793|308794|308805|308811|308813|313969|313973|313984|313985|313986|313987|313989|313993|313994|313999|314003|314006|314009|314035|314041|314052|314067|314074|314090|314099|314100|314103|314104|314105|314108|584600|711480|766752|766754|766756|787568|787570|788827|792773|899409|899410|899411|899412|899413|899414|899415|899416|899417|899418|899419|899420|899421|899422|900476|978465|978466|978467|978468|978469", + "upstreamId": "16774|16775|16776|16777|16778|16779|34083|34084|34085|34086|34087|34088|34089|34090|34091|34092|34093|34094|34095|34096|34097|34098|34099|34101|34102|34103|34104|168585|168586|168587|168588|193459|193461|195273|207539|207540|253098|265638|271769|273926|305058|305062|305067|305068|305069|305075|305084|305085|305096|305098|305099|305101|305103|305105|308791|308793|308794|308805|308811|308813|313969|313973|313984|313985|313986|313987|313989|313993|313994|313999|314003|314006|314009|314035|314041|314052|314067|314074|314090|314099|314100|314103|314104|314105|314108|584600|711480|766752|766754|766756|787568|787570|788827|792773|899409|899410|899411|899412|899413|899414|899415|899416|899417|899418|899419|899420|899421|899422|900476|978465|978466|978467|978468|978469", "text": "Roberts-SC phocomelia syndrome" }, { - "baseId": "16781", + "upstreamId": "16781", "text": "Intrinsic factor deficiency, congenital, susceptibility to" }, { - "baseId": "16781|16784|16785|16786|16787|204450|204451|204452|314343|314344|314347|314348|314350|320941|320964|320966|327032|327033|327037|328083|328088|328089|328090|328097|328102|433589|564748|564750|567344|570707|609795|620406|640159|640160|701822|712901|730774|752714|768494|768495|787990|818291|868145|868146|868147|868148|868149|868662|926276|926277|947504|956533", + "upstreamId": "16781|16784|16785|16786|16787|204450|204451|204452|314343|314344|314347|314348|314350|320941|320964|320966|327032|327033|327037|328083|328088|328089|328090|328097|328102|433589|564748|564750|567344|570707|609795|620406|640159|640160|701822|712901|730774|752714|768494|768495|787990|818291|868145|868146|868147|868148|868149|868662|926276|926277|947504|956533", "text": "Intrinsic factor deficiency" }, { - "baseId": "16788", + "upstreamId": "16788", "text": "Dopamine beta-hydroxylase activity" }, { - "baseId": 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+ "upstreamId": "16789|16790|16791|38418|214408|214409|214410|214411|214412|214413|214414|227065|227067|307374|307375|307377|307401|307402|307406|307407|307409|307410|307417|307418|307422|307424|307428|307440|311661|311662|311665|311666|311670|311673|311675|311677|311680|311684|311692|311694|317163|317176|317181|317186|317190|317191|317196|317198|317200|317212|317214|317218|317219|317221|317224|317226|317228|317240|317244|317245|317250|317586|317591|317592|317594|317595|317596|317597|317607|317608|317609|317614|317620|317621|317622|317623|317636|317641|317658|439060|524253|524255|524516|524520|563697|563698|637935|637936|637937|637938|700875|700876|711829|711831|711832|711833|711835|723420|723422|723424|723425|723426|723427|736987|751521|751524|767238|835738|835739|835740|835741|835742|835743|901439|901440|901441|901442|901443|901444|901445|901446|901447|901448|901449|901450|901451|901452|901453|901454|901455|901456|901457|901458|901459|901460|901461|901462|901463|901464|901465|901466|901467|901468|901469|901470|901471|901472|901473|901474|901475|901476|901477|901478|901479|903348|903349|925464|925465|946471", "text": "Orthostatic hypotension 1" }, { - "baseId": 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+ "upstreamId": 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"text": "Lynch syndrome I" }, { - "baseId": 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"text": "Lynch syndrome" }, { - "baseId": 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"text": "Hereditary nonpolyposis colorectal neoplasms" }, { - "baseId": 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+ "upstreamId": "16794|16803|23978|23980|24273|24276|24284|24284|32119|32126|32127|32130|32136|32138|32144|45202|45233|45350|50032|50071|50072|50084|50085|50148|50152|50153|51362|94679|94763|94786|94812|94816|94826|94834|94836|94843|94898|94947|94971|95036|95079|95127|95179|95218|95225|95362|95406|95427|95485|95488|95506|95556|95606|95622|95650|95759|95780|95916|95926|95987|95994|96029|96044|96049|96094|96129|96220|96279|96330|96378|96465|96516|96572|96611|96710|96775|96792|96795|96805|96815|96818|96841|96841|96850|96857|133027|133050|133072|133076|133086|133227|133237|133248|133249|133252|133253|133255|138590|139651|150473|150877|150979|151013|151078|151946|152204|152291|152364|152385|171076|179989|180098|180145|180148|180263|180273|181907|181971|181998|181998|182130|182257|182281|182738|182807|212191|212214|212225|221236|221251|221252|221295|221394|221405|221705|221713|231655|231678|231692|232602|232837|233515|233544|233555|239148|259868|361855|369830|392813|392893|395935|405879|405897|406198|406222|407204|432523|451404|452376|472775|473109|473493|474621|474639|483975|487316|518546|523007|562700|789372|919108|920243|920244|964664|965451", "text": "Turcot syndrome" }, { - "baseId": "16794|16797|16800|16803|16813|32138|45202|50071|50072|50084|50085|95054|95079|95127|95179|95218|95225|95406|95421|95427|95485|95488|95506|95556|95606|95622|95650|95759|95780|95916|95926|95987|95994|96029|96044|96094|96129|96279|96330|96378|96465|96572|96710|133072|133076|133086|150473|171076|179989|180145|180148|181907|182257|182281|212191|221236|221394|221405|232602|239148|406198|406222|452376|472775|473493|562700|613998", + "upstreamId": "16794|16797|16800|16803|16813|32138|45202|50071|50072|50084|50085|95054|95079|95127|95179|95218|95225|95406|95421|95427|95485|95488|95506|95556|95606|95622|95650|95759|95780|95916|95926|95987|95994|96029|96044|96094|96129|96279|96330|96378|96465|96572|96710|133072|133076|133086|150473|171076|179989|180145|180148|181907|182257|182281|212191|221236|221394|221405|232602|239148|406198|406222|452376|472775|473493|562700|613998", "text": "Muir-Torr\u00e9 syndrome" }, { - "baseId": 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"16798|16799|24281|45255|94646|94694|94804|94807|94812|94813|94814|94818|95037|95201|95227|95255|95310|95313|95360|95374|95384|95404|95419|95466|95576|95581|95584|95615|95759|95786|95805|95806|95855|95985|96029|96093|96116|96187|96241|96265|96343|96428|96496|96577|96580|96648|96652|96729|96737|96765|96774|96793|96798|96818|96851|133112|133253|150580|150772|150994|152364|152570|180099|180273|182030|182160|182782|182807|185992|186313|212611|214607|214608|221222|228967|231656|232847|233486|233596|238932|240100|244380|359365|359807|392853|392918|393047|405910|405949|405952|419548|427162|451200|451635|474770|484101|487006|518417|518434|610916|809090|915020|916866|916871|916872|916875|916878|917008|917426|920527|921457|964738|964739|969148|970062|970063|970064|970065|970066|970067|970068|970070|970071|970072|972530|972549|975755|975756|975770|983930|983950", "text": "Hereditary nonpolyposis colon cancer" }, { - "baseId": "16801", + "upstreamId": "16801", "text": "MSH2 POLYMORPHISM" }, { - "baseId": "16801|21985|24368|31619|32700|45243|45982|46604|47727|49984|50006|50089|50199|50251|50254|50257|50266|50270|66533|94815|94834|96346|96428|96572|133160|133610|139629|150591|151001|151773|167486|167491|180144|182185|182304|185548|238862|286667|360962|405963|457119|468105|475637|485590|514061|551416|551419|624834|677245|790251|809656|970742|970743|970915", + "upstreamId": "16801|21985|24368|31619|32700|45243|45982|46604|47727|49984|50006|50089|50199|50251|50254|50257|50266|50270|66533|94815|94834|96346|96428|96572|133160|133610|139629|150591|151001|151773|167486|167491|180144|182185|182304|185548|238862|286667|360962|405963|457119|468105|475637|485590|514061|551416|551419|624834|677245|790251|809656|970742|970743|970915", "text": "Breast carcinoma" }, { - "baseId": "16806|16807|96202|96324", + "upstreamId": "16806|16807|96202|96324", "text": "MISMATCH REPAIR CANCER SYNDROME 2" }, { - "baseId": 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+ "upstreamId": 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"text": "Early myoclonic encephalopathy" }, { - "baseId": "16816|16818|16819|16820|16824|16825|16828|16829|16830|16831|16835|16836|16837|16838|16840|16841|16842|16843|16844|16847", + "upstreamId": "16816|16818|16819|16820|16824|16825|16828|16829|16830|16831|16835|16836|16837|16838|16840|16841|16842|16843|16844|16847", "text": "Complete combined 17-alpha-hydroxylase/17,20-lyase deficiency" }, { - "baseId": "16816|16819|16821|16824|16826|309338|309339|309341|314007|314008|314016|314017|314018|314022|319908|319911|319917|320451|320457|404785|425860|429040|620342|737315|767606|767607|767608|783527|865317|865318|865319|865320|865321|865322|865323|865324|865325|868430|978615|978616|978617|978618|978619|978620|978621|978622|978623", + "upstreamId": "16816|16819|16821|16824|16826|309338|309339|309341|314007|314008|314016|314017|314018|314022|319908|319911|319917|320451|320457|404785|425860|429040|620342|737315|767606|767607|767608|783527|865317|865318|865319|865320|865321|865322|865323|865324|865325|868430|978615|978616|978617|978618|978619|978620|978621|978622|978623", "text": "Deficiency of steroid 17-alpha-monooxygenase" }, { - "baseId": "16817|16821|16822|16823|16832|16833|16834|16839|16845|16846", + "upstreamId": "16817|16821|16822|16823|16832|16833|16834|16839|16845|16846", "text": "Combined partial 17-alpha-hydroxylase/17,20-lyase deficiency" }, { - "baseId": "16826|16827", + "upstreamId": "16826|16827", "text": "Isolated 17,20-lyase deficiency" }, { - "baseId": 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+ "upstreamId": 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"text": "Legius syndrome" }, { - "baseId": "16856|16857|16858|34511|34512|34513|34514|34515|34516|34517|34518|39740|101805|140421|169015|169015|169018|169019|169020|169021|169022|169023|169024|169025|169026|169027|169028|169031|169031|169032|169032|169033|169034|169036|169037|169038|169038|169039|169039|169040|169041|169042|169043|169044|169045|191939|194480|208029|208038|254844|319318|319320|319324|319331|319335|319339|319340|319344|327833|327837|327838|327860|327863|327872|327873|327877|327879|327880|327888|327890|327892|327893|334132|334133|334135|334148|334152|334165|334170|335735|335772|335797|335804|335810|335820|335829|335830|335833|335838|335845|335846|404812|426039|429484|437953|437953|488204|488238|490846|513331|587191|870972|870973|870974|870975|870976|870977|870978|870979|870980|870981|870982|870983|870984|870985|870986|870987|870988|870989|870990|870991|870992|870993|870994|870995|870996|870997|870998|870999|872321|872322|965989", + "upstreamId": "16856|16857|16858|34511|34512|34513|34514|34515|34516|34517|34518|39740|101805|140421|169015|169015|169018|169019|169020|169021|169022|169023|169024|169025|169026|169027|169028|169031|169031|169032|169032|169033|169034|169036|169037|169038|169038|169039|169039|169040|169041|169042|169043|169044|169045|191939|194480|208029|208038|254844|319318|319320|319324|319331|319335|319339|319340|319344|327833|327837|327838|327860|327863|327872|327873|327877|327879|327880|327888|327890|327892|327893|334132|334133|334135|334148|334152|334165|334170|335735|335772|335797|335804|335810|335820|335829|335830|335833|335838|335845|335846|404812|426039|429484|437953|437953|488204|488238|490846|513331|587191|870972|870973|870974|870975|870976|870977|870978|870979|870980|870981|870982|870983|870984|870985|870986|870987|870988|870989|870990|870991|870992|870993|870994|870995|870996|870997|870998|870999|872321|872322|965989", "text": "Primary autosomal recessive microcephaly 6" }, { - "baseId": "16856|18493|18494|18495|34421|34422|34458|34554|34555|34556|34557|39596|39597|39598|39599|102020|102022|102023|141888|168642|168643|168644|168645|168647|168648|168649|168650|168651|168653|168654|168655|168656|168657|168658|168659|168660|168661|168662|168663|168664|168665|168666|168667|168668|168669|168670|168671|168672|168674|168675|168676|168677|168684|168685|168686|168687|168689|168692|168693|168694|168695|168696|168697|168698|168700|168701|168702|168703|168705|177255|177832|191095|191285|193676|195416|196068|204410|207565|207566|207567|207568|263004|268492|269728|269760|271359|305726|305728|305729|305737|305738|305762|305766|305767|305768|309735|309736|309737|309765|309766|309771|314972|314987|315019|315021|315082|315086|315104|315106|315107|315136|315137|315146|407440|425803|428850|428852|428853|428854|490847|491170|538402|577066|620807|626179|682798|682799|723165|736734|801848|861607|899924|899925|899926|899927|899928|899929|899930|899931|899932|899933|899934|899935|899936|899937|899946|899950|899951|899952|899953|899954|899955|899956|899957|899958|899959|899960|899961|899962|899963|900511|904224|904225|919172|970885|975861", + "upstreamId": "16856|18493|18494|18495|34421|34422|34458|34554|34555|34556|34557|39596|39597|39598|39599|102020|102022|102023|141888|168642|168643|168644|168645|168647|168648|168649|168650|168651|168653|168654|168655|168656|168657|168658|168659|168660|168661|168662|168663|168664|168665|168666|168667|168668|168669|168670|168671|168672|168674|168675|168676|168677|168684|168685|168686|168687|168689|168692|168693|168694|168695|168696|168697|168698|168700|168701|168702|168703|168705|177255|177832|191095|191285|193676|195416|196068|204410|207565|207566|207567|207568|263004|268492|269728|269760|271359|305726|305728|305729|305737|305738|305762|305766|305767|305768|309735|309736|309737|309765|309766|309771|314972|314987|315019|315021|315082|315086|315104|315106|315107|315136|315137|315146|407440|425803|428850|428852|428853|428854|490847|491170|538402|577066|620807|626179|682798|682799|723165|736734|801848|861607|899924|899925|899926|899927|899928|899929|899930|899931|899932|899933|899934|899935|899936|899937|899946|899950|899951|899952|899953|899954|899955|899956|899957|899958|899959|899960|899961|899962|899963|900511|904224|904225|919172|970885|975861", "text": "Primary autosomal recessive microcephaly 1" }, { - "baseId": "16859|106652|106652|135519|135520|135521|135521|135523|135523|135524|135524|135525|135526|206757|206757|206758|206758|206762|206762|237363|237363|270346|271432|271432|271433|279278|279279|279280|279285|279286|279295|279300|279301|279308|279309|279310|279311|279318|279318|279324|279324|279325|279329|279329|279330|279343|279490|279491|279493|279494|279496|279497|279498|279502|279506|279507|279508|279508|279509|279512|279512|279534|279535|279536|279545|279545|279549|280795|280797|280798|280799|280804|280805|280809|280810|280813|280822|280823|280825|280825|280830|280835|280837|280839|280845|280846|280847|280850|280851|280855|280860|280863|280872|280873|280874|280875|280876|280877|280878|280887|280887|280897|280909|280913|280923|280924|280924|280939|280940|280956|280957|280958|364904|364905|425336|427712|447500|447631|447634|447736|447738|447738|447743|447746|498243|515542|515555|535673|556790|557153|558347|558347|627378|627379|627380|650679|690489|690489|690490|696474|696475|696475|696477|777096|780569|801776|823482|823483|823484|858672|858673|863719|863720|863721|863722|863723|863724|863725|863726|863727|863728|863729|863730|863731|863732|863733|863734|863735|863736|863737|863738|863739|863740|863741|863742|863743|863744|863745|863746|863747|863748|863749|863750|863751|863752|863753|863754|863755|863756|863757|863758|863759|865128|865129|865130|921848|930328|930329|940619|941768|941769|941770|969093", + "upstreamId": "16859|106652|106652|135519|135520|135521|135521|135523|135523|135524|135524|135525|135526|206757|206757|206758|206758|206762|206762|237363|237363|270346|271432|271432|271433|279278|279279|279280|279285|279286|279295|279300|279301|279308|279309|279310|279311|279318|279318|279324|279324|279325|279329|279329|279330|279343|279490|279491|279493|279494|279496|279497|279498|279502|279506|279507|279508|279508|279509|279512|279512|279534|279535|279536|279545|279545|279549|280795|280797|280798|280799|280804|280805|280809|280810|280813|280822|280823|280825|280825|280830|280835|280837|280839|280845|280846|280847|280850|280851|280855|280860|280863|280872|280873|280874|280875|280876|280877|280878|280887|280887|280897|280909|280913|280923|280924|280924|280939|280940|280956|280957|280958|364904|364905|425336|427712|447500|447631|447634|447736|447738|447738|447743|447746|498243|515542|515555|535673|556790|557153|558347|558347|627378|627379|627380|650679|690489|690489|690490|696474|696475|696475|696477|777096|780569|801776|823482|823483|823484|858672|858673|863719|863720|863721|863722|863723|863724|863725|863726|863727|863728|863729|863730|863731|863732|863733|863734|863735|863736|863737|863738|863739|863740|863741|863742|863743|863744|863745|863746|863747|863748|863749|863750|863751|863752|863753|863754|863755|863756|863757|863758|863759|865128|865129|865130|921848|930328|930329|940619|941768|941769|941770|969093", "text": "Cataract-intellectual disability-hypogonadism syndrome" }, { - "baseId": "16860|205733|972782", + "upstreamId": "16860|205733|972782", "text": "Mental retardation, autosomal recessive 2" }, { - "baseId": "16861|19441|19442|21008|132639", + "upstreamId": "16861|19441|19442|21008|132639", "text": "Hypertriglyceridemia, susceptibility to" }, { - "baseId": "16862|39738|44164|44165|44166|44167|54729|54730|54732|54733|54734|54735|54736|54737|54738|172328|172466|206697|275806|275807|275810|275811|275824|275825|275826|275829|275913|275916|275921|275932|275942|275950|275953|276010|276015|276035|276036|276038|276039|276040|276041|276042|276043|276044|364350|496145|497969|513485|578357|609341|620703|731539|855104|861862|861863|861864|861865|861866|861867|861868|861869|861870|861871|861872|861873|861874|864955|864956|864957", + "upstreamId": "16862|39738|44164|44165|44166|44167|54729|54730|54732|54733|54734|54735|54736|54737|54738|172328|172466|206697|275806|275807|275810|275811|275824|275825|275826|275829|275913|275916|275921|275932|275942|275950|275953|276010|276015|276035|276036|276038|276039|276040|276041|276042|276043|276044|364350|496145|497969|513485|578357|609341|620703|731539|855104|861862|861863|861864|861865|861866|861867|861868|861869|861870|861871|861872|861873|861874|864955|864956|864957", "text": "Chudley-McCullough syndrome" }, { - "baseId": "16862|21526|21527|32043|246783|262397|389218|389253|514275|682182|905841|905845", + "upstreamId": "16862|21526|21527|32043|246783|262397|389218|389253|514275|682182|905841|905845", "text": "Autosomal recessive non-syndromic sensorineural deafness type DFNB" }, { - "baseId": "16863|16864|16865|16867|16868|39737|213953|214140|583120", + "upstreamId": "16863|16864|16865|16867|16868|39737|213953|214140|583120", "text": "Hypotrichosis 8" }, { - "baseId": "16865|16866", + "upstreamId": "16865|16866", "text": "Autosomal recessive woolly hair 1, with or without hypotrichosis" }, { - "baseId": "16869|16870|16871|16872|16873|39733|39735|39736|99374|166160|177086|195605|196206|212287|221358|221359|250855|250857|288263|288275|288277|288288|288289|289045|289046|289048|289058|289061|291958|291966|291985|291988|291999|292001|292003|292109|292110|292115|393234|620099|683527|686282|790317|790318|800368|827325|887716|887717|887718|887719|887720|887721|887722|887723|887724|887725|887726|887727|887728|891556", + "upstreamId": "16869|16870|16871|16872|16873|39733|39735|39736|99374|166160|177086|195605|196206|212287|221358|221359|250855|250857|288263|288275|288277|288288|288289|289045|289046|289048|289058|289061|291958|291966|291985|291988|291999|292001|292003|292109|292110|292115|393234|620099|683527|686282|790317|790318|800368|827325|887716|887717|887718|887719|887720|887721|887722|887723|887724|887725|887726|887727|887728|891556", "text": "Senior-Loken syndrome 5" }, { - "baseId": "16869|39892|102064|177569|177574|195571|221112|222267|254734|280562|280564|281544|281592|281829|281981|282784|283087|283088|288278|289062|291965|291998|292112|318604|326794|326807|326864|326876|332978|334650|443009|496723|800445|800485", + "upstreamId": "16869|39892|102064|177569|177574|195571|221112|222267|254734|280562|280564|281544|281592|281829|281981|282784|283087|283088|288278|289062|291965|291998|292112|318604|326794|326807|326864|326876|332978|334650|443009|496723|800445|800485", "text": "Renal dysplasia and retinal aplasia" }, { - "baseId": "16874", + "upstreamId": "16874", "text": "Combined oxidative phosphorylation deficiency 2" }, { - "baseId": "16875|16876|16877|16878|16879|16880|16881|16882|336576|336579|336580|336584|336586|336590|346287|346291|346296|350538|350541|350542|350545|351586|351587|351590|886679|886680|886681|886682|886683|886684|886685|886686|887501", + "upstreamId": "16875|16876|16877|16878|16879|16880|16881|16882|336576|336579|336580|336584|336586|336590|346287|346291|346296|350538|350541|350542|350545|351586|351587|351590|886679|886680|886681|886682|886683|886684|886685|886686|887501", "text": "Glucocorticoid deficiency 2" }, { - "baseId": "16880|18297|18298|18299|18300|18301|18302|18303|18304|18305|33464|330751|330758|330760|330789|330800|330801|330807|330809|330812|330813|340969|340971|340981|340986|340990|341000|341003|341015|341017|341022|341031|341033|341035|341040|341044|341049|341050|346567|346568|346585|346588|346589|346590|346596|346601|346603|346605|346607|346612|346613|346614|346616|346624|346625|347888|347889|347892|347895|347897|347900|347902|347909|347917|347918|347925|347928|347931|347934|437707|437708|437709|437710|437711|437735|485789|620616|704544|741303|878933|878934|878935|878936|878937|878938|878939|878940|878941|878942|878943|878944|878945|878946|878947|878948|878949|878950|878951|878952|878953|878954|878955|878956|878957|878958|878959|878960|878961|878962|878963|878964|878965|878966|878967|878968|878969|878970", + "upstreamId": "16880|18297|18298|18299|18300|18301|18302|18303|18304|18305|33464|330751|330758|330760|330789|330800|330801|330807|330809|330812|330813|340969|340971|340981|340986|340990|341000|341003|341015|341017|341022|341031|341033|341035|341040|341044|341049|341050|346567|346568|346585|346588|346589|346590|346596|346601|346603|346605|346607|346612|346613|346614|346616|346624|346625|347888|347889|347892|347895|347897|347900|347902|347909|347917|347918|347925|347928|347931|347934|437707|437708|437709|437710|437711|437735|485789|620616|704544|741303|878933|878934|878935|878936|878937|878938|878939|878940|878941|878942|878943|878944|878945|878946|878947|878948|878949|878950|878951|878952|878953|878954|878955|878956|878957|878958|878959|878960|878961|878962|878963|878964|878965|878966|878967|878968|878969|878970", "text": "ACTH resistance" }, { - "baseId": "16883|16884|16885|16886|16887|226712|539007", + "upstreamId": "16883|16884|16885|16886|16887|226712|539007", "text": "Trichothiodystrophy, nonphotosensitive 1" }, { - "baseId": "16888|16889|16890|622379", + "upstreamId": "16888|16889|16890|622379", "text": "Glutaryl-CoA oxidase deficiency" }, { - "baseId": "16891|16892|16893|16894|16895|16896|16897|168054|168055|168056|168060|168062|168063|168064|168065|168066|168067|168068|168069|168070|168072|168073|186291|206987|206990|206991|215255|285583|285585|285586|285591|285592|285594|285600|285602|285603|285607|285608|286279|286280|286282|286283|286284|286299|286301|286302|286306|286322|286335|286337|286338|288594|288597|288599|288601|288607|288608|288611|288639|288640|289003|289009|289011|289016|289019|289020|289031|289033|289034|289035|289037|289039|425483|428033|428039|516224|557982|560551|561240|620075|620743|620744|629747|629748|629749|629750|708190|719783|733369|743904|743925|747488|747491|774691|790222|819148|826109|826110|826111|884421|884422|884423|884424|884425|884426|884427|884428|884429|884430|884431|884432|884433|884434|884435|884436|884437|884438|884439|884440|884441|884442|884443|884444|884445|884446|884447|884448|884449|884450|884451|884452|884453|884454|884455|884456|887331|887332|887333|887334|887335|922676|931262|931263|961758", + "upstreamId": "16891|16892|16893|16894|16895|16896|16897|168054|168055|168056|168060|168062|168063|168064|168065|168066|168067|168068|168069|168070|168072|168073|186291|206987|206990|206991|215255|285583|285585|285586|285591|285592|285594|285600|285602|285603|285607|285608|286279|286280|286282|286283|286284|286299|286301|286302|286306|286322|286335|286337|286338|288594|288597|288599|288601|288607|288608|288611|288639|288640|289003|289009|289011|289016|289019|289020|289031|289033|289034|289035|289037|289039|425483|428033|428039|516224|557982|560551|561240|620075|620743|620744|629747|629748|629749|629750|708190|719783|733369|743904|743925|747488|747491|774691|790222|819148|826109|826110|826111|884421|884422|884423|884424|884425|884426|884427|884428|884429|884430|884431|884432|884433|884434|884435|884436|884437|884438|884439|884440|884441|884442|884443|884444|884445|884446|884447|884448|884449|884450|884451|884452|884453|884454|884455|884456|887331|887332|887333|887334|887335|922676|931262|931263|961758", "text": "D-2-hydroxyglutaric aciduria 1" }, { - "baseId": "16898|16899|16900|16901|16902|135554|167389|186007|210907|210908|210911|221341|221342|226729|244400|265654|287484|287491|287494|287495|287504|287505|287508|288253|288254|288256|288258|288259|288260|288270|288272|288273|290927|290939|290942|290969|290980|290982|291169|291171|291172|291173|291177|291193|291196|291197|291201|291222|366824|367046|367984|391499|393125|393136|393259|393485|393487|448552|451733|451735|451826|518650|518664|518674|518676|518727|518730|518731|518836|518839|518843|557513|559193|559195|559197|559199|559201|560991|562097|562099|588014|609146|630605|630606|630607|630608|650812|650822|651096|819278|819279|827086|827087|827088|827089|827090|827091|827092|827093|885602|885603|885604|885605|885606|885607|885608|885609|885610|885611|885612|885613|885614|885615|885616|885617|885618|885619|885620|885621|885622|885623|885624|885625|885626|885627|885628|885629|922941|922942|931612|931613|939917|940726|953249|959658|962032|964208", + "upstreamId": "16898|16899|16900|16901|16902|135554|167389|186007|210907|210908|210911|221341|221342|226729|244400|265654|287484|287491|287494|287495|287504|287505|287508|288253|288254|288256|288258|288259|288260|288270|288272|288273|290927|290939|290942|290969|290980|290982|291169|291171|291172|291173|291177|291193|291196|291197|291201|291222|366824|367046|367984|391499|393125|393136|393259|393485|393487|448552|451733|451735|451826|518650|518664|518674|518676|518727|518730|518731|518836|518839|518843|557513|559193|559195|559197|559199|559201|560991|562097|562099|588014|609146|630605|630606|630607|630608|650812|650822|651096|819278|819279|827086|827087|827088|827089|827090|827091|827092|827093|885602|885603|885604|885605|885606|885607|885608|885609|885610|885611|885612|885613|885614|885615|885616|885617|885618|885619|885620|885621|885622|885623|885624|885625|885626|885627|885628|885629|922941|922942|931612|931613|939917|940726|953249|959658|962032|964208", "text": "Spastic paraplegia 31, autosomal dominant" }, { - "baseId": "16903|16904|16905|16906|16907|16908|16909|289432|289441|289442|289450|289451|289465|290220|290223|293305|293316|293747|293748|359498|418983|418987|418993|418994|418995|418997|418998|419000|419001|452119|452270|452274|452276|452357|452358|518945|553153|559365|561232|561236|581296|631024|651039|819344|819345|819346|819348|827655|850918|888358|888359|888360|891616|918812|940741|943395|970759", + "upstreamId": "16903|16904|16905|16906|16907|16908|16909|289432|289441|289442|289450|289451|289465|290220|290223|293305|293316|293747|293748|359498|418983|418987|418993|418994|418995|418997|418998|419000|419001|452119|452270|452274|452276|452357|452358|518945|553153|559365|561232|561236|581296|631024|651039|819344|819345|819346|819348|827655|850918|888358|888359|888360|891616|918812|940741|943395|970759", "text": "Cerebral cavernous malformations 3" }, { - "baseId": "16910|16911", + "upstreamId": "16910|16911", "text": "Wilms tumor 5" }, { - "baseId": "16912|16913|16914|16915|48464|48465|48466|48467|76349|76350|76351|247067|254339|254340|254341|254342|254343|254344|254346|254348|254349|254351|254352|254353|254354|254355|254356|254357|254358|315338|315342|315344|315348|315349|315352|315358|322187|322188|322189|322201|322205|322210|322211|328250|328260|328261|328265|328267|328270|328271|328278|328281|328294|328300|328307|328308|329603|329608|329609|329610|425945|461471|461474|461477|461479|461485|461682|461684|461686|461687|461689|462002|462008|462009|462015|462016|462019|462311|462313|462316|462322|462327|462328|462331|526491|526498|526503|526547|526554|526555|526558|526790|526791|526796|527074|527076|564916|564917|564924|564926|566203|566205|566207|567558|567560|571010|571023|571035|571037|571043|620423|640479|640480|640481|640482|640483|640484|640485|640486|640487|640488|652135|652603|687830|687831|693116|693118|693119|702011|702012|713218|713219|724771|738334|753005|768817|768820|787840|820419|839115|839116|839117|839118|839119|839120|839121|839122|839123|839124|839125|839126|839127|839128|839129|839130|839131|839132|839133|839134|839135|839136|851463|868869|868870|868871|868872|868873|868874|868875|868876|868877|868878|868879|868880|868881|868882|868883|868884|868885|868886|868887|868888|872146|872147|872148|872149|919397|926402|926403|926404|926405|926406|926407|926408|935835|935836|935837|935838|935839|935840|947720|947721|947722|947723|956704|956705|956706|956707|965653|965654", + "upstreamId": "16912|16913|16914|16915|48464|48465|48466|48467|76349|76350|76351|247067|254339|254340|254341|254342|254343|254344|254346|254348|254349|254351|254352|254353|254354|254355|254356|254357|254358|315338|315342|315344|315348|315349|315352|315358|322187|322188|322189|322201|322205|322210|322211|328250|328260|328261|328265|328267|328270|328271|328278|328281|328294|328300|328307|328308|329603|329608|329609|329610|425945|461471|461474|461477|461479|461485|461682|461684|461686|461687|461689|462002|462008|462009|462015|462016|462019|462311|462313|462316|462322|462327|462328|462331|526491|526498|526503|526547|526554|526555|526558|526790|526791|526796|527074|527076|564916|564917|564924|564926|566203|566205|566207|567558|567560|571010|571023|571035|571037|571043|620423|640479|640480|640481|640482|640483|640484|640485|640486|640487|640488|652135|652603|687830|687831|693116|693118|693119|702011|702012|713218|713219|724771|738334|753005|768817|768820|787840|820419|839115|839116|839117|839118|839119|839120|839121|839122|839123|839124|839125|839126|839127|839128|839129|839130|839131|839132|839133|839134|839135|839136|851463|868869|868870|868871|868872|868873|868874|868875|868876|868877|868878|868879|868880|868881|868882|868883|868884|868885|868886|868887|868888|872146|872147|872148|872149|919397|926402|926403|926404|926405|926406|926407|926408|935835|935836|935837|935838|935839|935840|947720|947721|947722|947723|956704|956705|956706|956707|965653|965654", "text": "Neutral lipid storage myopathy" }, { - "baseId": "16916|16917|16918|16919|16923|16924|16925|16926|16927|16928|16929|106572|224657", + "upstreamId": "16916|16917|16918|16919|16923|16924|16925|16926|16927|16928|16929|106572|224657", "text": "METHYLMALONIC ACIDURIA, mut(0) TYPE" }, { - "baseId": "16917|16920|16923|16925|16926|98587|98588|98589|98591|98592|98594|106572|177367|193400|200114|200117|200122|200123|200124|216037|216044|216045|236987|274267|274558|303391|307943|308067|415056|439145|487201|490207|501673|522062|543691|544017|544019|544021|544043|544144|560736|565694|634940|699613|722064|722065|765712|765715|782553|978223", + "upstreamId": "16917|16920|16923|16925|16926|98587|98588|98589|98591|98592|98594|106572|177367|193400|200114|200117|200122|200123|200124|216037|216044|216045|236987|274267|274558|303391|307943|308067|415056|439145|487201|490207|501673|522062|543691|544017|544019|544021|544043|544144|560736|565694|634940|699613|722064|722065|765712|765715|782553|978223", "text": "Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency" }, { - "baseId": "16919|16920|16925|16926|18134|18199|40093|40094|98595|102137|106572|135084|139972|139973|139974|139976|139977|139978|139979|177367|200054|200055|200110|200111|200114|200116|200121|200123|200124|200226|200304|200305|215029|216025|216037|216039|216044|216045|216058|216059|224619|254395|254396|287871|290415|292317|292318|292319|292341|292348|292367|293762|293773|297053|297067|297093|297097|297169|297190|300514|300520|300527|303401|308052|315908|315917|315921|315923|315924|315935|315941|315943|323051|323053|323082|323083|323084|323095|323115|323134|323137|323148|329123|329195|329197|329199|329206|329208|330322|330325|330357|330362|330381|353576|374720|409781|409783|415056|422125|439337|453275|487063|487143|487190|487201|505854|543081|543691|544019|544026|544041|544043|544057|544133|544137|544140|544144|546844|565694|621750|634947|645125|656395|715199|748753|755535|771186|771192|844484|916967|979819|979820|979821|979822|979823|979824|979825|979826|979827|979828|979829|979830|979831|979832|979833|979834|979835|979836|979837|979838|979839|979840|979841|979842|979843|979844|979845|979846|979847|979848|979849|979850|979851|979852|979853|979854|979855|979856|979857|979858|979859|979860|979861|979862|979863|979864|979865|979866|979867|979868|979869|979870|979871|979872|979873|979874", + "upstreamId": "16919|16920|16925|16926|18134|18199|40093|40094|98595|102137|106572|135084|139972|139973|139974|139976|139977|139978|139979|177367|200054|200055|200110|200111|200114|200116|200121|200123|200124|200226|200304|200305|215029|216025|216037|216039|216044|216045|216058|216059|224619|254395|254396|287871|290415|292317|292318|292319|292341|292348|292367|293762|293773|297053|297067|297093|297097|297169|297190|300514|300520|300527|303401|308052|315908|315917|315921|315923|315924|315935|315941|315943|323051|323053|323082|323083|323084|323095|323115|323134|323137|323148|329123|329195|329197|329199|329206|329208|330322|330325|330357|330362|330381|353576|374720|409781|409783|415056|422125|439337|453275|487063|487143|487190|487201|505854|543081|543691|544019|544026|544041|544043|544057|544133|544137|544140|544144|546844|565694|621750|634947|645125|656395|715199|748753|755535|771186|771192|844484|916967|979819|979820|979821|979822|979823|979824|979825|979826|979827|979828|979829|979830|979831|979832|979833|979834|979835|979836|979837|979838|979839|979840|979841|979842|979843|979844|979845|979846|979847|979848|979849|979850|979851|979852|979853|979854|979855|979856|979857|979858|979859|979860|979861|979862|979863|979864|979865|979866|979867|979868|979869|979870|979871|979872|979873|979874", "text": "Methylmalonic acidemia" }, { - "baseId": "16920|16921|16922", + "upstreamId": "16920|16921|16922", "text": "METHYLMALONIC ACIDURIA, mut(-) TYPE" }, { - "baseId": "16930", + "upstreamId": "16930", "text": "Pseudofolliculitis barbae, susceptibility to" }, { - "baseId": "16931|16932|16933|76666|190882|238658|250572|250573|284653|284658|284659|284662|284665|284666|284667|284672|284676|284677|284681|284686|284688|284690|285339|285345|285346|285349|285350|285351|285352|285363|285370|285373|285375|285377|285378|287514|287517|287530|287531|287547|287557|287562|287569|287588|287597|287604|287605|287778|287786|287795|287796|287800|287801|287832|287836|287847|353558|363930|392689|425468|450383|450388|450695|450702|450705|450707|450712|508776|513522|517702|517710|517719|517830|517924|517926|559105|559107|559109|559111|560930|883734|883735|883736|883737|883738|883739|883740|883741|883742|883743|883744|883745|883746|883747|883748|918736|918737|918738|964193|964403", + "upstreamId": "16931|16932|16933|76666|190882|238658|250572|250573|284653|284658|284659|284662|284665|284666|284667|284672|284676|284677|284681|284686|284688|284690|285339|285345|285346|285349|285350|285351|285352|285363|285370|285373|285375|285377|285378|287514|287517|287530|287531|287547|287557|287562|287569|287588|287597|287604|287605|287778|287786|287795|287796|287800|287801|287832|287836|287847|353558|363930|392689|425468|450383|450388|450695|450702|450705|450707|450712|508776|513522|517702|517710|517719|517830|517924|517926|559105|559107|559109|559111|560930|883734|883735|883736|883737|883738|883739|883740|883741|883742|883743|883744|883745|883746|883747|883748|918736|918737|918738|964193|964403", "text": "Paroxysmal nonkinesigenic dyskinesia 1" }, { - "baseId": "16931", + "upstreamId": "16931", "text": "Episodic hemiplegia" }, { - "baseId": "16931|169841|590085|801114", + "upstreamId": "16931|169841|590085|801114", "text": "Paroxysmal dyskinesia" }, { - "baseId": "16931|360813|966891", + "upstreamId": "16931|360813|966891", "text": "Paroxysmal dystonia" }, { - "baseId": "16932|16933|238657|250572|284658|284659|284665|284667|285339|285345|285346|285351|287547|287562|287796|287800|287801|363930|392580|392689|392706|450391|450536|450621|450623|450695|450706|450712|450713|450715|514459|517712|517723|517800|517802|517814|517824|517827|517926|517928|557882|557929|560895|560913|560923|629452|629453|629454|629455|629456|629457|629458|629459|629460|629461|629462|629463|650913|686142|686143|686144|686145|774662|781169|819124|825728|825729|825730|825731|825732|825733|825734|825735|825736|825737|825738|825739|825740|825741|851398|922570|922571|922572|922573|922574|922575|922576|922577|931142|931143|931144|931145|931146|931147|931148|931149|931150|931151|939875|939876|942607|942608|942609|942610|952931|952932|952933|952934", + "upstreamId": "16932|16933|238657|250572|284658|284659|284665|284667|285339|285345|285346|285351|287547|287562|287796|287800|287801|363930|392580|392689|392706|450391|450536|450621|450623|450695|450706|450712|450713|450715|514459|517712|517723|517800|517802|517814|517824|517827|517926|517928|557882|557929|560895|560913|560923|629452|629453|629454|629455|629456|629457|629458|629459|629460|629461|629462|629463|650913|686142|686143|686144|686145|774662|781169|819124|825728|825729|825730|825731|825732|825733|825734|825735|825736|825737|825738|825739|825740|825741|851398|922570|922571|922572|922573|922574|922575|922576|922577|931142|931143|931144|931145|931146|931147|931148|931149|931150|931151|939875|939876|942607|942608|942609|942610|952931|952932|952933|952934", "text": "Paroxysmal non-kinesigenic dyskinesia" }, { - "baseId": 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+ "upstreamId": 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"text": "Biotinidase deficiency" }, { - "baseId": 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"text": "Global developmental delay" }, { - "baseId": 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"text": "Holocarboxylase synthetase deficiency" }, { - "baseId": "16954", + "upstreamId": "16954", "text": "SCIANNA BLOOD GROUP SYSTEM, SC:-1,-2" }, { - "baseId": "16955", + "upstreamId": "16955", "text": "SCIANNA BLOOD GROUP SYSTEM, SC:-1,2" }, { - "baseId": "16956", + "upstreamId": "16956", "text": "Radin blood group" }, { - "baseId": "16957", + "upstreamId": "16957", "text": "Antigen in Scianna blood group system" }, { - "baseId": 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+ "upstreamId": "16958|16959|16960|16961|16962|16963|16964|16965|16966|16967|101923|101924|101926|177099|177230|191719|195411|195413|200097|200099|200100|200101|200102|251975|251980|251982|271170|297992|297999|298004|298011|298012|298017|298022|298028|300202|300206|300207|300210|300213|300217|300235|304413|304414|304418|304430|304432|304434|304749|304750|304757|304758|304759|304762|368227|368708|443820|454072|455056|455238|455245|455703|455704|455711|455712|455947|455951|455958|481743|490822|501398|501410|501649|513060|521241|521521|521531|521595|521846|521850|560367|560369|560371|560373|560375|560377|560484|563213|563217|565170|565182|586274|620199|634000|634001|634002|634003|634004|634005|634006|634007|651335|661243|691876|691877|735165|735167|749566|749567|759386|765187|765189|819604|819605|830935|830936|830937|830938|830939|830940|830941|894629|894630|894631|894632|894633|894634|894635|894636|894637|894638|894639|894640|894641|894642|894643|894644|894645|894646|894647|894648|894649|894650|894651|894652|894653|894654|894655|894656|896127|896128|924097|924098|924099|932941|932942|932943|932944|932945|932946|940008|940009|944644|944645|944646|944647|944648|944649|954188|954189|964260|970814", "text": "3-methylcrotonyl CoA carboxylase 2 deficiency" }, { - "baseId": "16968|16969|16970|16971|16972|16973|16974|101834|101836|101837|101839|141882|141883|141884|177088|177821|177822|177823|177824|191076|195739|200045|200046|200047|200050|251038|251043|251044|259755|289630|289632|289638|289640|290370|290371|290373|290376|293450|293453|293463|293977|293996|293997|367017|367272|368297|406159|425534|430991|451990|451995|451996|452001|452224|452226|452330|452333|452336|452340|452486|452491|481680|481681|489554|495181|500104|500406|500595|500598|513260|513261|519026|519031|519036|519038|519044|519200|519212|558860|558862|558864|559401|559403|559405|559407|561302|561306|562620|562621|562626|631083|631084|631085|631086|631087|631088|631089|631090|631091|631092|631093|631094|631095|631096|631097|631098|631099|631100|631101|631102|631103|631104|631105|631106|631107|631108|650979|651041|651043|651071|686378|686379|691342|691343|691345|733927|733928|763747|763749|781616|781617|781618|781620|781621|790368|819357|819358|819359|827758|827759|827760|827761|827762|827763|827764|827765|827766|827767|827768|851033|851552|861591|888453|888454|888455|888456|888457|888458|888459|888460|888461|920189|923106|923107|923108|923109|923110|931853|931854|939933|943435|953401|953402|953403|953404|953405|953406", + "upstreamId": "16968|16969|16970|16971|16972|16973|16974|101834|101836|101837|101839|141882|141883|141884|177088|177821|177822|177823|177824|191076|195739|200045|200046|200047|200050|251038|251043|251044|259755|289630|289632|289638|289640|290370|290371|290373|290376|293450|293453|293463|293977|293996|293997|367017|367272|368297|406159|425534|430991|451990|451995|451996|452001|452224|452226|452330|452333|452336|452340|452486|452491|481680|481681|489554|495181|500104|500406|500595|500598|513260|513261|519026|519031|519036|519038|519044|519200|519212|558860|558862|558864|559401|559403|559405|559407|561302|561306|562620|562621|562626|631083|631084|631085|631086|631087|631088|631089|631090|631091|631092|631093|631094|631095|631096|631097|631098|631099|631100|631101|631102|631103|631104|631105|631106|631107|631108|650979|651041|651043|651071|686378|686379|691342|691343|691345|733927|733928|763747|763749|781616|781617|781618|781620|781621|790368|819357|819358|819359|827758|827759|827760|827761|827762|827763|827764|827765|827766|827767|827768|851033|851552|861591|888453|888454|888455|888456|888457|888458|888459|888460|888461|920189|923106|923107|923108|923109|923110|931853|931854|939933|943435|953401|953402|953403|953404|953405|953406", "text": "3 Methylcrotonyl-CoA carboxylase 1 deficiency" }, { - "baseId": "16968|16969|16973|101924|141882|141884|177099|177822|177823|177824|191076|191719|195739|200045|200047|200099|200100|200102|251982|289632|293997|452001|452224|452226|455711|455947|455958|481743|490822|521595|560377|562620|563217|565182|631090|631092|631096|631102|686378|691342|735165|735167|749567|759386|830939|888458|894631|944649|953403|977821|977822|977823|977824|977825|977826|977827|977828|977829|977830|977831|977832|977833|977834|977835|977836|977837|978185|978186|978187|978188|978189|978190|978191|978192|978193|978194|978195|978196|978197|978198|978199|978200|978201|978202", + "upstreamId": "16968|16969|16973|101924|141882|141884|177099|177822|177823|177824|191076|191719|195739|200045|200047|200099|200100|200102|251982|289632|293997|452001|452224|452226|455711|455947|455958|481743|490822|521595|560377|562620|563217|565182|631090|631092|631096|631102|686378|691342|735165|735167|749567|759386|830939|888458|894631|944649|953403|977821|977822|977823|977824|977825|977826|977827|977828|977829|977830|977831|977832|977833|977834|977835|977836|977837|978185|978186|978187|978188|978189|978190|978191|978192|978193|978194|978195|978196|978197|978198|978199|978200|978201|978202", "text": "Methylcrotonyl-CoA carboxylase deficiency" }, { - "baseId": 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+ "upstreamId": 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"text": "Parkinson disease 8, autosomal dominant" }, { - "baseId": "16979|22089", + "upstreamId": "16979|22089", "text": "Young-onset Parkinson disease" }, { - "baseId": "16983|16984|16985|16986|16987|16988|16989|45768|344604|508932|614468|614469|614470", + "upstreamId": "16983|16984|16985|16986|16987|16988|16989|45768|344604|508932|614468|614469|614470", "text": "Weill-Marchesani syndrome 1" }, { - "baseId": "16990|125789|140823|140824|210976|293959|293966|293967|452475|519022|695187|779047|827755|931852|943433|980911", + "upstreamId": "16990|125789|140823|140824|210976|293959|293966|293967|452475|519022|695187|779047|827755|931852|943433|980911", "text": "3-methylglutaconic aciduria type V" }, { - "baseId": 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"16991|16992|177530|188766|188767|254273|314839|314840|314841|314848|314850|314851|314855|314856|314866|314881|314882|314886|314889|321579|321581|321591|321593|321594|321595|321605|321606|321613|321614|321623|321651|321655|327684|327689|327690|327693|327694|327695|327698|327699|327700|327712|327716|327719|327731|327735|327752|327753|327756|328782|328790|328799|328801|328804|328806|328807|328809|328810|328811|328818|328822|328824|328832|328834|328836|328841|431757|623308|693100|791159|838825|868378|868379|868380|868381|868382|868383|868384|868385|868386|868387|868388|868389|868390|868391|868392|868393|868394|868395|868396|868397|868398|868399|868400|868401|868402|868403|868404|868405|868406|868407|868408|868409|868410|868411|868412|868683", "text": "Congenital stationary night blindness, type 2B" }, { - "baseId": 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+ "upstreamId": "16993|16994|16995|16996|16997|16998|16999|17000|17001|17002|17003|17004|17005|17006|17007|17008|17009|17010|17012|17013|17014|17015|17016|17018|17019|17023|44317|44318|79148|79149|79150|79151|79152|79153|79154|79155|79156|79157|79158|79159|190708|231104|257361|257362|260230|335525|335529|335531|335536|335560|345310|350014|351027|351029|351030|351031|351032|351035|377038|378044|390341|390343|430318|470393|471393|497336|507775|533534|533536|533544|533569|533570|533571|533575|533613|533619|548891|548893|548898|548909|548912|548913|548968|548970|548972|548973|549211|549381|549382|549383|549384|549385|549386|549387|549388|549389|549390|549391|571135|571245|572904|572912|610158|613994|623167|648699|648700|648701|648702|648703|648704|648705|648706|653129|653559|694553|694554|694555|695846|705499|705500|705501|728671|728672|731348|745304|757538|757539|757541|757542|760899|773111|773112|773114|773115|773117|786378|786380|786381|821327|821328|821329|848413|848414|848415|848416|848417|848418|848419|848420|848421|848422|848423|848424|852908|852999|886147|886148|886149|886150|886151|886152|886153|886154|886155|886156|886157|886158|886159|929196|929197|951102|951103|951104|951105|958842|958843|958844|958845|958846|958847|958848|960940|972340|972341|972342|972343|980021|980022", "text": "Severe combined immunodeficiency due to ADA deficiency" }, { - "baseId": 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+ "upstreamId": 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"text": "Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive" }, { - "baseId": "17000|17001|17002|17003|17005|17006|17018|17019", + "upstreamId": "17000|17001|17002|17003|17005|17006|17018|17019", "text": "Partial adenosine deaminase deficiency" }, { - "baseId": "17004|17018|17023|28177|44474|260230|291325|297340|299357|299373|312525|314019|314021|320474|320491|325324|327380|327410|327417|327426|327480|332796|342993|342997|348310|348336|348355|349518|353163|353188|353488|353489|481990|548898|548913|972607|983949", + "upstreamId": "17004|17018|17023|28177|44474|260230|291325|297340|299357|299373|312525|314019|314021|320474|320491|325324|327380|327410|327417|327426|327480|332796|342993|342997|348310|348336|348355|349518|353163|353188|353488|353489|481990|548898|548913|972607|983949", "text": "Severe Combined Immune Deficiency" }, { - "baseId": "17009|44318|44319|44469|44470|44471|44472|44473|44474|44663|44664|45054|45055|45056|45057|45059|45060|45078|45079|45080|45081|45082|45083|45084|45085|45086|45372|45373|45375|45376|45377|45380|45381|45575|79585|363593|390341|434671|487945|497336|549388|590646|974489", + "upstreamId": "17009|44318|44319|44469|44470|44471|44472|44473|44474|44663|44664|45054|45055|45056|45057|45059|45060|45078|45079|45080|45081|45082|45083|45084|45085|45086|45372|45373|45375|45376|45377|45380|45381|45575|79585|363593|390341|434671|487945|497336|549388|590646|974489", "text": "Severe combined immunodeficiency disease" }, { - "baseId": "17011|17021|17022|17023", + "upstreamId": "17011|17021|17022|17023", "text": "SCID due to ADA deficiency, delayed onset" }, { - "baseId": "17012", + "upstreamId": "17012", "text": "Adenosine deaminase 2 allozyme" }, { - "baseId": 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+ "upstreamId": 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"text": "Fraser syndrome 2" }, { - "baseId": "17027|17028|17029|413788", + "upstreamId": "17027|17028|17029|413788", "text": "BNAR syndrome" }, { - "baseId": "17030|17031|17032|133901|133902|196356|214168|214169|214762|271907|291765|293111|293112|296408|367421|367743|368828|393771|393817|406366|452801|453564|519614|536654|559535|563313|620138|622334|622335|622336|685154|686467|764186|764187|781815|819421|819424|819425|828588|828589|828590|828591|828592|828593|828594|851578|851580|923365|923366|932091|932092|932093|943709|943710|943711|943712|943713|943714|943715|943716|953597|953598|953599|953600|953601", + "upstreamId": "17030|17031|17032|133901|133902|196356|214168|214169|214762|271907|291765|293111|293112|296408|367421|367743|368828|393771|393817|406366|452801|453564|519614|536654|559535|563313|620138|622334|622335|622336|685154|686467|764186|764187|781815|819421|819424|819425|828588|828589|828590|828591|828592|828593|828594|851578|851580|923365|923366|932091|932092|932093|943709|943710|943711|943712|943713|943714|943715|943716|953597|953598|953599|953600|953601", "text": "Joubert syndrome 8" }, { - "baseId": "17033|102096|177028|191435|191436|192057|193721|195431|196333|256341|256342|256345|256346|256347|256348|256349|329459|329460|329465|329488|329490|329494|329504|329505|329512|329518|329522|329527|329529|329533|329535|329544|329545|329546|329547|329551|329553|329592|329593|339753|339763|339765|339767|339782|339783|339789|339791|339793|339797|339801|339802|339804|339810|339815|339816|339818|339820|339822|345484|345496|345506|345510|345520|345521|345526|345534|345537|345541|345548|345554|345559|345564|345566|345569|345571|345574|346824|346825|346836|346844|346851|346857|346858|346859|346862|346867|346870|346871|346872|346876|346877|346882|346883|346889|346893|346929|346930|845926|845927|845938|878194|878195|878196|878197|878198|878199|878200|878201|878202|878203|878204|878205|878206|878207|878208|878209|878210|878211|878212|878213|878214|878215|878216|878217|878218|878219|878220|878221|878222|878223|878224|878225|878226|878227|878228|878229|878230|878231|878232|878233|878234|878235|878236|878237|878238|878239|878240|878241|878242|878243|878244|878245|878264|878265|919763", + "upstreamId": "17033|102096|177028|191435|191436|192057|193721|195431|196333|256341|256342|256345|256346|256347|256348|256349|329459|329460|329465|329488|329490|329494|329504|329505|329512|329518|329522|329527|329529|329533|329535|329544|329545|329546|329547|329551|329553|329592|329593|339753|339763|339765|339767|339782|339783|339789|339791|339793|339797|339801|339802|339804|339810|339815|339816|339818|339820|339822|345484|345496|345506|345510|345520|345521|345526|345534|345537|345541|345548|345554|345559|345564|345566|345569|345571|345574|346824|346825|346836|346844|346851|346857|346858|346859|346862|346867|346870|346871|346872|346876|346877|346882|346883|346889|346893|346929|346930|845926|845927|845938|878194|878195|878196|878197|878198|878199|878200|878201|878202|878203|878204|878205|878206|878207|878208|878209|878210|878211|878212|878213|878214|878215|878216|878217|878218|878219|878220|878221|878222|878223|878224|878225|878226|878227|878228|878229|878230|878231|878232|878233|878234|878235|878236|878237|878238|878239|878240|878241|878242|878243|878244|878245|878264|878265|919763", "text": "Cone-rod dystrophy 5" }, { - "baseId": "17034|140169|140170|140171|140172|211799|211802|211806|211807|327514|327518|327519|337350|337355|343627|343629|343635|343639|343640|345122|345129|409847|622915|876908|876909|876910|876911|876912|876913|876914|876915|876916|876917|876918|876919|876920|880479|919713", + "upstreamId": "17034|140169|140170|140171|140172|211799|211802|211806|211807|327514|327518|327519|337350|337355|343627|343629|343635|343639|343640|345122|345129|409847|622915|876908|876909|876910|876911|876912|876913|876914|876915|876916|876917|876918|876919|876920|880479|919713", "text": "Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 1" }, { - "baseId": 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+ "upstreamId": 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"text": "Familial hemophagocytic lymphohistiocytosis 3" }, { - "baseId": "17043|17044|17045|17046|17047|17048|98559|98560|98561|98562|98564|117265|135742|178066|187121|192209|194807|194808|195568|205173|228218|254825|254829|254830|265322|265525|266407|266527|267944|268189|269008|269208|269214|269291|269367|269472|269833|270070|270437|272665|273800|274472|274581|275451|319224|319226|327724|327754|327763|334017|335632|335639|335640|353291|372663|462610|462891|463382|463383|490527|492123|492730|527427|527489|527490|527492|527745|527749|528013|539048|546795|546796|546797|546954|546956|546962|546967|546969|547115|547119|547124|547345|547346|567120|567125|568269|608906|641582|641583|641584|641585|641586|641587|652283|652352|652525|652768|679459|681848|693327|693328|787944|794047|799734|802183|820548|820549|840579|840580|840581|840582|840583|840584|840585|852529|852712|926813|936355|936356|948273|948274|948275|957028|957029|957030|957031|957032|957033|966349|979360|979361", + "upstreamId": "17043|17044|17045|17046|17047|17048|98559|98560|98561|98562|98564|117265|135742|178066|187121|192209|194807|194808|195568|205173|228218|254825|254829|254830|265322|265525|266407|266527|267944|268189|269008|269208|269214|269291|269367|269472|269833|270070|270437|272665|273800|274472|274581|275451|319224|319226|327724|327754|327763|334017|335632|335639|335640|353291|372663|462610|462891|463382|463383|490527|492123|492730|527427|527489|527490|527492|527745|527749|528013|539048|546795|546796|546797|546954|546956|546962|546967|546969|547115|547119|547124|547345|547346|567120|567125|568269|608906|641582|641583|641584|641585|641586|641587|652283|652352|652525|652768|679459|681848|693327|693328|787944|794047|799734|802183|820548|820549|840579|840580|840581|840582|840583|840584|840585|852529|852712|926813|936355|936356|948273|948274|948275|957028|957029|957030|957031|957032|957033|966349|979360|979361", "text": "Severe autosomal recessive muscular dystrophy of childhood - North African type" }, { - "baseId": 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+ "upstreamId": 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"text": "Joubert syndrome 3" }, { - "baseId": "17051|181421|181433", + "upstreamId": "17051|181421|181433", "text": "Typical Joubert syndrome MRI findings" }, { - "baseId": "17054|39717|904949|904950|904951", + "upstreamId": "17054|39717|904949|904950|904951", "text": "Joubert syndrome with ocular defect" }, { - "baseId": "17057|17058|17058|17059|443654|513552|626146|904267|904268|906011|961768|961769", + "upstreamId": "17057|17058|17058|17059|443654|513552|626146|904267|904268|906011|961768|961769", "text": "Neutral 1 amino acid transport defect" }, { - "baseId": "17058|17424|918914|961768|961769", + "upstreamId": "17058|17424|918914|961768|961769", "text": "Iminoglycinuria" }, { - "baseId": 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+ "upstreamId": 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"text": "Hyperglycinuria" }, { - "baseId": "17060|17423|19884", + "upstreamId": "17060|17423|19884", "text": "Iminoglycinuria, digenic" }, { - "baseId": 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"text": "CHARGE association" }, { - "baseId": 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+ "upstreamId": 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"text": "Hypogonadotropic hypogonadism 5 with or without anosmia" }, { - "baseId": "17069", + "upstreamId": "17069", "text": "Scoliosis, idiopathic 3" }, { - "baseId": "17072", + "upstreamId": "17072", "text": "Hypogonadotropic hypogonadism 5 without anosmia" }, { - "baseId": "17078", + "upstreamId": "17078", "text": "PPARGC1B polymorphism" }, { - "baseId": "17079|17080|17081|17082|17083|17083|251300|251300|291791|291792|291793|291802|291802|291806|293133|296451|296453|296455|296466|354273|561830|631804|651246|685157|686472|781822|819427|828596|828597|828598|828599|889783|889784|889785|889786|889787|889788|889789|889790|889791|889792|891714|932095|932096|943720", + "upstreamId": "17079|17080|17081|17082|17083|17083|251300|251300|291791|291792|291793|291802|291802|291806|293133|296451|296453|296455|296466|354273|561830|631804|651246|685157|686472|781822|819427|828596|828597|828598|828599|889783|889784|889785|889786|889787|889788|889789|889790|889791|889792|891714|932095|932096|943720", "text": "Bardet-Biedl syndrome 3" }, { - "baseId": "17083|17084|251300|291802|561830|631804|651246|685157|686472|781822|819427|828596|828597|828598|828599|932095|932096|943720|965642", + "upstreamId": "17083|17084|251300|291802|561830|631804|651246|685157|686472|781822|819427|828596|828597|828598|828599|932095|932096|943720|965642", "text": "Retinitis pigmentosa 55" }, { - "baseId": "17085|17086|17087|17088|17089|17090|17091|17092|17093|17094|17095|17096|17097|17098|17100|152881|195036|195038|195039|199800|238071|238072|269446|321023|321024|321026|330122|336640|482052|528788|550250|612157|642639|642640|642641|642642|642643|652613|693561|702958|702959|702960|702961|725770|739288|739289|769878|778300|784749|784750|784752|791418|791419|791420|794252|794253|794254|794255|794256|794258|818306|841678|841679|841680|841681|841682|841683|841684|841685|841686|841687|841688|841689|841690|851575|856786|856787|856788|856790|919540|927151|936691|936692|936693|936694|936695|936696|948641|957270|957271|957272|957273|957274|960807|960808|965937|965938|965939|965940|965941|965942|965943|965944|965945", + "upstreamId": "17085|17086|17087|17088|17089|17090|17091|17092|17093|17094|17095|17096|17097|17098|17100|152881|195036|195038|195039|199800|238071|238072|269446|321023|321024|321026|330122|336640|482052|528788|550250|612157|642639|642640|642641|642642|642643|652613|693561|702958|702959|702960|702961|725770|739288|739289|769878|778300|784749|784750|784752|791418|791419|791420|794252|794253|794254|794255|794256|794258|818306|841678|841679|841680|841681|841682|841683|841684|841685|841686|841687|841688|841689|841690|851575|856786|856787|856788|856790|919540|927151|936691|936692|936693|936694|936695|936696|948641|957270|957271|957272|957273|957274|960807|960808|965937|965938|965939|965940|965941|965942|965943|965944|965945", "text": "Leber congenital amaurosis 13" }, { - "baseId": "17086|20264|21608|101737|101744|152872|205170|205460|259747|263389|417109|426811|431556|431656|431661|431735|431744|431769|431774|431785|431831|431834|431839|431849|431852|431877", + "upstreamId": "17086|20264|21608|101737|101744|152872|205170|205460|259747|263389|417109|426811|431556|431656|431661|431735|431744|431769|431774|431785|431831|431834|431839|431849|431852|431877", "text": "Abnormality of the eye" }, { - "baseId": "17086", + "upstreamId": "17086", "text": "RDH12-Related Disorders" }, { - "baseId": "17088|17403|21917|21918|75295|105181|205138|237652|237678|247774|247775|359177|359178|431847|488481|569886|642639|800449|800457|800471|800474|800481|800535|800554|800558|800559|800571|800581|800617|800618|800625|800693|800696|800707|800708", + "upstreamId": "17088|17403|21917|21918|75295|105181|205138|237652|237678|247774|247775|359177|359178|431847|488481|569886|642639|800449|800457|800471|800474|800481|800535|800554|800558|800559|800571|800581|800617|800618|800625|800693|800696|800707|800708", "text": "Cone-rod degeneration" }, { - "baseId": "17099|17100", + "upstreamId": "17099|17100", "text": "Retinitis pigmentosa 53" }, { - "baseId": "17101", + "upstreamId": "17101", "text": "Diabetes mellitus, insulin-dependent, 5" }, { - "baseId": "17102|17103|17104|17105|17109|207420", + "upstreamId": "17102|17103|17104|17105|17109|207420", "text": "Myoclonic Epilepsy, Juvenile, 1" }, { - "baseId": "17102|17103|17104|17106|22647|38421|101782|101782|134010|134011|134012|134407|134408|134409|134409|134410|134410|134411|134411|134412|134413|134414|134414|134415|134416|134417|134417|134418|134418|140354|140358|140359|140895|140895|140896|140896|140897|140898|140899|140899|140900|190285|190889|191506|193645|194994|196048|201269|201270|201851|201972|201973|201975|201977|201978|201979|201979|201980|201981|201982|201984|201988|201989|201991|201991|201993|201993|201995|201996|201997|201997|201998|202003|202003|202005|202005|202007|202008|202008|202009|202010|202011|202012|207419|268415|270295|271613|282202|282203|282204|282210|282211|282215|282225|282228|282238|282249|282262|282263|282264|282265|282273|282275|282285|282287|282291|282292|282867|282873|282884|282889|282890|282897|282908|282909|282910|282911|282912|282915|282916|282937|282940|282941|282942|282946|282949|282954|282983|282984|282985|282986|282987|282988|282989|282994|284475|284478|284479|284480|284481|284482|284486|284491|284492|284493|284498|284501|284503|284519|284520|284781|284799|284801|284803|284815|284818|284819|284822|284851|284852|284875|284876|284882|284883|284884|284885|284889|284892|284893|284898|284904|284921|284923|284924|284925|284930|284934|284935|285431|298623|300707|300708|300713|300714|300719|300721|300722|300723|300734|300738|300739|300751|300752|302845|303045|303061|303064|303627|303628|303629|303632|303633|303635|303651|303652|303659|303660|303670|303671|303672|303675|303677|303678|308173|308174|308174|308180|308182|308199|308201|308210|308222|308225|308226|308231|308233|308236|308237|308238|308239|308240|308241|308242|308245|308250|308251|308252|308253|308263|308267|353540|368987|370496|389791|395192|395194|395421|395552|395557|395841|395842|445828|455651|455654|455845|455849|456246|456250|521697|521700|522042|522046|522051|522071|522073|522392|522396|522399|522407|560748|560750|560752|560755|560761|560880|560881|560888|560890|560896|560897|560903|565718|565718|565738|565747|634982|634983|634984|634985|634986|634987|634988|634989|634990|634991|634992|634993|634994|634995|634996|634997|634998|634999|635000|635001|635002|686900|686901|686902|692012|710557|722069|777747|790532|790533|818378|818381|819699|819700|821936|821937|821938|822261|832037|832038|832039|832040|832041|832042|832043|832044|832045|832046|832047|832048|832049|832050|832051|832052|832053|832054|832055|832056|832057|832058|832059|832060|832061|832062|832063|851078|924380|924381|933357|933358|933359|933360|933361|933362|933363|933364|945065|945066|945067|945068|945069|945070|954500|954501|954502|954503", + "upstreamId": "17102|17103|17104|17106|22647|38421|101782|101782|134010|134011|134012|134407|134408|134409|134409|134410|134410|134411|134411|134412|134413|134414|134414|134415|134416|134417|134417|134418|134418|140354|140358|140359|140895|140895|140896|140896|140897|140898|140899|140899|140900|190285|190889|191506|193645|194994|196048|201269|201270|201851|201972|201973|201975|201977|201978|201979|201979|201980|201981|201982|201984|201988|201989|201991|201991|201993|201993|201995|201996|201997|201997|201998|202003|202003|202005|202005|202007|202008|202008|202009|202010|202011|202012|207419|268415|270295|271613|282202|282203|282204|282210|282211|282215|282225|282228|282238|282249|282262|282263|282264|282265|282273|282275|282285|282287|282291|282292|282867|282873|282884|282889|282890|282897|282908|282909|282910|282911|282912|282915|282916|282937|282940|282941|282942|282946|282949|282954|282983|282984|282985|282986|282987|282988|282989|282994|284475|284478|284479|284480|284481|284482|284486|284491|284492|284493|284498|284501|284503|284519|284520|284781|284799|284801|284803|284815|284818|284819|284822|284851|284852|284875|284876|284882|284883|284884|284885|284889|284892|284893|284898|284904|284921|284923|284924|284925|284930|284934|284935|285431|298623|300707|300708|300713|300714|300719|300721|300722|300723|300734|300738|300739|300751|300752|302845|303045|303061|303064|303627|303628|303629|303632|303633|303635|303651|303652|303659|303660|303670|303671|303672|303675|303677|303678|308173|308174|308174|308180|308182|308199|308201|308210|308222|308225|308226|308231|308233|308236|308237|308238|308239|308240|308241|308242|308245|308250|308251|308252|308253|308263|308267|353540|368987|370496|389791|395192|395194|395421|395552|395557|395841|395842|445828|455651|455654|455845|455849|456246|456250|521697|521700|522042|522046|522051|522071|522073|522392|522396|522399|522407|560748|560750|560752|560755|560761|560880|560881|560888|560890|560896|560897|560903|565718|565718|565738|565747|634982|634983|634984|634985|634986|634987|634988|634989|634990|634991|634992|634993|634994|634995|634996|634997|634998|634999|635000|635001|635002|686900|686901|686902|692012|710557|722069|777747|790532|790533|818378|818381|819699|819700|821936|821937|821938|822261|832037|832038|832039|832040|832041|832042|832043|832044|832045|832046|832047|832048|832049|832050|832051|832052|832053|832054|832055|832056|832057|832058|832059|832060|832061|832062|832063|851078|924380|924381|933357|933358|933359|933360|933361|933362|933363|933364|945065|945066|945067|945068|945069|945070|954500|954501|954502|954503", "text": "Juvenile myoclonic epilepsy" }, { - "baseId": "17103|17106|38421|101782|134407|134408|134409|134410|134411|134412|134414|134417|134418|140895|140896|140897|140898|140899|140900|190889|193645|194994|196048|201972|201977|201978|201979|201981|201984|201988|201991|201993|201995|201996|201997|201998|202003|202005|202007|202008|202011|207419|270295|271613|308174|368987|370496|389791|395194|395421|395552|395557|455845|455849|456250|522042|522046|522071|522073|522407|560752|565718|565738|634983|634992|634994|634996|635000|686900|686901|686902|692012|710557|722069|777747|819699|819700|821936|821937|821938|822261|832037|832038|832039|832040|832041|832042|832043|832044|832045|832046|832047|832048|832049|832050|832051|832052|832053|832054|832055|832056|832057|832058|832059|832060|832061|832062|832063|851078|924380|924381|933357|933358|933359|933360|933361|933362|933363|933364|945065|945066|945067|945068|945069|945070|954500|954501|954502|954503", + "upstreamId": "17103|17106|38421|101782|134407|134408|134409|134410|134411|134412|134414|134417|134418|140895|140896|140897|140898|140899|140900|190889|193645|194994|196048|201972|201977|201978|201979|201981|201984|201988|201991|201993|201995|201996|201997|201998|202003|202005|202007|202008|202011|207419|270295|271613|308174|368987|370496|389791|395194|395421|395552|395557|455845|455849|456250|522042|522046|522071|522073|522407|560752|565718|565738|634983|634992|634994|634996|635000|686900|686901|686902|692012|710557|722069|777747|819699|819700|821936|821937|821938|822261|832037|832038|832039|832040|832041|832042|832043|832044|832045|832046|832047|832048|832049|832050|832051|832052|832053|832054|832055|832056|832057|832058|832059|832060|832061|832062|832063|851078|924380|924381|933357|933358|933359|933360|933361|933362|933363|933364|945065|945066|945067|945068|945069|945070|954500|954501|954502|954503", "text": "Typical absence seizures" }, { - "baseId": "17107|17108|134410|201975|201979|201980|201982|201993|201997|202012|268415|395192|395841|395842|455651|455654|456246|521697|521700|522051|522392|522396|522399|560748|560750|560755|560761|560880|560881|560888|560890|560896|560897|560903|565718|565747|634982|634984|634985|634986|634987|634988|634989|634990|634991|634993|634995|634997|634998|634999|635001|635002", + "upstreamId": "17107|17108|134410|201975|201979|201980|201982|201993|201997|202012|268415|395192|395841|395842|455651|455654|456246|521697|521700|522051|522392|522396|522399|560748|560750|560755|560761|560880|560881|560888|560890|560896|560897|560903|565718|565747|634982|634984|634985|634986|634987|634988|634989|634990|634991|634993|634995|634997|634998|634999|635001|635002", "text": "Epilepsy, juvenile absence, susceptibility to, 1" }, { - "baseId": "17110|17111|17112|17113|17114|17115|17116|39716|75257|143207|260933|264773|264778|427721|439182|439182|622311|627401|683308|789107|789938|789939|858698|861132|861134|861137|921275|969126|969128|970140|971518", + "upstreamId": "17110|17111|17112|17113|17114|17115|17116|39716|75257|143207|260933|264773|264778|427721|439182|439182|622311|627401|683308|789107|789938|789939|858698|861132|861134|861137|921275|969126|969128|970140|971518", "text": "Leukodystrophy, hypomyelinating, 2" }, { - "baseId": "17117|434566|439182|918614", + "upstreamId": "17117|434566|439182|918614", "text": "Spastic paraplegia 44, autosomal recessive" }, { - "baseId": "17118|17119|439182", + "upstreamId": "17118|17119|439182", "text": "Lymphatic malformation 3" }, { - "baseId": 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+ "upstreamId": 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"text": "Glutaric aciduria, type 1" }, { - "baseId": "17129|17130|17131|17132|54005|54006|54007|54008|54009|54010|54011|54012|54013|54014|54015|174084|174085|174088|174089|227308|229594|302579|302580|302584|302586|302600|302608|302610|302614|302616|302617|305960|305962|305963|305966|305967|305968|305981|305986|305987|305989|305990|305993|310680|310682|310683|310689|310690|310692|310709|310710|310715|310961|310962|310963|310964|310976|496491|513971|897923|897924|897925|897926|897927|897928|897929|897930|897931|897932|897933|897934|897935|897936|900350", + "upstreamId": "17129|17130|17131|17132|54005|54006|54007|54008|54009|54010|54011|54012|54013|54014|54015|174084|174085|174088|174089|227308|229594|302579|302580|302584|302586|302600|302608|302610|302614|302616|302617|305960|305962|305963|305966|305967|305968|305981|305986|305987|305989|305990|305993|310680|310682|310683|310689|310690|310692|310709|310710|310715|310961|310962|310963|310964|310976|496491|513971|897923|897924|897925|897926|897927|897928|897929|897930|897931|897932|897933|897934|897935|897936|900350", "text": "Deafness, autosomal dominant 5" }, { - "baseId": "17133|17134|17135|17136|17137|17138|17139|17140|17141|34071|34072|34073|34074|34075|34076|34077|34078|34079|34080|34081|34082|135325|142281|142282|142283|142284|142286|142288|200186|200187|200188|200189|200190|200192|200200|200201|200202|200203|200205|200208|200209|200210|200212|200213|200214|200215|200216|314816|314820|314823|314825|314837|321550|321553|321559|321562|321571|321572|321574|321575|327657|327660|327664|327666|327670|327673|327674|327681|328744|328747|328749|328750|328760|328762|328766|328772|328773|328774|371632|372332|372333|372336|372540|372550|372554|372558|374215|415297|429287|442480|480411|503405|503725|503936|503951|526728|546167|546176|546179|546184|546186|546479|546480|546484|546601|546603|546606|546609|546613|546830|546832|546834|549979|566110|570902|578493|609806|620835|622406|640366|640367|640368|640369|640370|640371|640372|665984|713095|724659|724660|724661|724662|730794|738202|738203|738204|738205|738206|738207|738208|738209|738210|738211|744554|752867|752868|752869|752870|752871|752872|752873|752874|752875|760033|760036|768652|768655|768656|768657|768658|768660|768661|768663|768664|768665|768667|768668|768669|768670|768671|775867|778163|784115|784119|784121|784123|784126|784128|784130|787699|787710|791158|868355|868356|868357|868358|868359|868360|868361|868362|868363|868364|868365|868366|868367|868368|868369|868370|868371|868372|868373|868374|868375|868376|868377|868675|868676|868677|868678|868679|868680|868681|868682|919384|919385|926359|935713|935714|940231|941010|956609|956610|956611|956612|956613|964847|970228", + "upstreamId": "17133|17134|17135|17136|17137|17138|17139|17140|17141|34071|34072|34073|34074|34075|34076|34077|34078|34079|34080|34081|34082|135325|142281|142282|142283|142284|142286|142288|200186|200187|200188|200189|200190|200192|200200|200201|200202|200203|200205|200208|200209|200210|200212|200213|200214|200215|200216|314816|314820|314823|314825|314837|321550|321553|321559|321562|321571|321572|321574|321575|327657|327660|327664|327666|327670|327673|327674|327681|328744|328747|328749|328750|328760|328762|328766|328772|328773|328774|371632|372332|372333|372336|372540|372550|372554|372558|374215|415297|429287|442480|480411|503405|503725|503936|503951|526728|546167|546176|546179|546184|546186|546479|546480|546484|546601|546603|546606|546609|546613|546830|546832|546834|549979|566110|570902|578493|609806|620835|622406|640366|640367|640368|640369|640370|640371|640372|665984|713095|724659|724660|724661|724662|730794|738202|738203|738204|738205|738206|738207|738208|738209|738210|738211|744554|752867|752868|752869|752870|752871|752872|752873|752874|752875|760033|760036|768652|768655|768656|768657|768658|768660|768661|768663|768664|768665|768667|768668|768669|768670|768671|775867|778163|784115|784119|784121|784123|784126|784128|784130|787699|787710|791158|868355|868356|868357|868358|868359|868360|868361|868362|868363|868364|868365|868366|868367|868368|868369|868370|868371|868372|868373|868374|868375|868376|868377|868675|868676|868677|868678|868679|868680|868681|868682|919384|919385|926359|935713|935714|940231|941010|956609|956610|956611|956612|956613|964847|970228", "text": "Pyruvate carboxylase deficiency" }, { - "baseId": "17142|17143|578443|963441|963442|963443", + "upstreamId": "17142|17143|578443|963441|963442|963443", "text": "Trichothiodystrophy 3, photosensitive" }, { - "baseId": "17144", + "upstreamId": "17144", "text": "Dopamine receptor d2, reduced brain density of" }, { - "baseId": "17144|24577", + "upstreamId": "17144|24577", "text": "ethanol response - Toxicity/ADR" }, { - "baseId": "17144|227797|227815", + "upstreamId": "17144|227797|227815", "text": "clozapine response - Toxicity/ADR" }, { - "baseId": "17144", + "upstreamId": "17144", "text": "bupropion response - Efficacy" }, { - "baseId": "17144|227797|227815", + "upstreamId": "17144|227797|227815", "text": "olanzapine response - Toxicity/ADR" }, { - "baseId": "17144|227765|227796|227814|227815", + "upstreamId": "17144|227765|227796|227814|227815", "text": "antipsychotics response - Toxicity/ADR" }, { - "baseId": "17144|227797|227815", + "upstreamId": "17144|227797|227815", "text": "risperidone response - Toxicity/ADR" }, { - "baseId": "17145|17146|17147|241241|241242|241243|241244|241245|241246|398456|398477|398486|398492|398526|398527|398844|398845|398847|398971|418971|425952|434766|461636|461640|461642|461644|461770|461858|462193|462195|462199|462433|462433|462434|462437|526688|526693|526931|527254|527261|527262|565058|565069|565077|566356|566362|567681|567683|571282|571283|588709|611408|611409|640644|640645|640646|640647|640648|652650|684289|684293|684294|684296|684297|684298|684299|684302|684303|684304|687902|695551|702149|724906|738461|784277|784278|784280|789405|820446|822057|839337|839338|839339|839340|839341|839342|839343|839344|852657|926471|926472|935925|935926|935927|947792|947793|956752|956753|961617", + "upstreamId": "17145|17146|17147|241241|241242|241243|241244|241245|241246|398456|398477|398486|398492|398526|398527|398844|398845|398847|398971|418971|425952|434766|461636|461640|461642|461644|461770|461858|462193|462195|462199|462433|462433|462434|462437|526688|526693|526931|527254|527261|527262|565058|565069|565077|566356|566362|567681|567683|571282|571283|588709|611408|611409|640644|640645|640646|640647|640648|652650|684289|684293|684294|684296|684297|684298|684299|684302|684303|684304|687902|695551|702149|724906|738461|784277|784278|784280|789405|820446|822057|839337|839338|839339|839340|839341|839342|839343|839344|852657|926471|926472|935925|935926|935927|947792|947793|956752|956753|961617", "text": "Transposition of the great arteries, dextro-looped 1" }, { - "baseId": "17148|17149|140788|140789|140790|140792|140793|140794|205266|211483|211485|312369|325111|361584|372166|425901|429171|512847|525969|525972|538418|620385|752424|752425|820427|837945|837946|837947|919318|947300|947301", + "upstreamId": "17148|17149|140788|140789|140790|140792|140793|140794|205266|211483|211485|312369|325111|361584|372166|425901|429171|512847|525969|525972|538418|620385|752424|752425|820427|837945|837946|837947|919318|947300|947301", "text": "Pyruvate dehydrogenase E2 deficiency" }, { - "baseId": "17150|17151|17152|17153|17154|17155|17156|17157|17158|39709|142357|142359|142360|142361|142362|142363|142365|142366|142367|142368|142369|171910|211519|211521|211522|211524|211526|211527|211531|211534|266574|270374|270583|270584|270585|313943|313944|313946|313947|313949|313950|313960|313965|313967|313974|313975|313976|313980|320291|320293|320297|320299|320311|320313|320315|320324|320325|320330|320335|320345|326299|326304|326309|326313|326314|326326|326327|326333|326334|326344|326346|327358|327359|327369|327373|327376|327377|408337|482271|620399|759998|867870|867871|867872|867873|867874|867875|867876|867877|867878|867879|867880|867881|867882|867883|867884|867885|919356|919357", + "upstreamId": "17150|17151|17152|17153|17154|17155|17156|17157|17158|39709|142357|142359|142360|142361|142362|142363|142365|142366|142367|142368|142369|171910|211519|211521|211522|211524|211526|211527|211531|211534|266574|270374|270583|270584|270585|313943|313944|313946|313947|313949|313950|313960|313965|313967|313974|313975|313976|313980|320291|320293|320297|320299|320311|320313|320315|320324|320325|320330|320335|320345|326299|326304|326309|326313|326314|326326|326327|326333|326334|326344|326346|327358|327359|327369|327373|327376|327377|408337|482271|620399|759998|867870|867871|867872|867873|867874|867875|867876|867877|867878|867879|867880|867881|867882|867883|867884|867885|919356|919357", "text": "Pyruvate dehydrogenase E3-binding protein deficiency" }, { - "baseId": "17159|17159|195798|208414|208416|208419|208420|486768|552207|625982", + "upstreamId": "17159|17159|195798|208414|208416|208419|208420|486768|552207|625982", "text": "Pontocerebellar hypoplasia type 2A" }, { - "baseId": "17159|169400|169404|169408|169410|169411|169412|169415|169417", + "upstreamId": "17159|169400|169404|169408|169410|169411|169412|169415|169417", "text": "Olivopontocerebellar hypoplasia" }, { - "baseId": "17159|17159|17161|17162|38422|39708|102564|102567|169409|195798|208414|486768|552207", + "upstreamId": "17159|17159|17161|17162|38422|39708|102564|102567|169409|195798|208414|486768|552207", "text": "Pontocerebellar hypoplasia type 4" }, { - "baseId": "17159|17161|178840|195798|208414|919770", + "upstreamId": "17159|17161|178840|195798|208414|919770", "text": "Pontocerebellar hypoplasia type 5" }, { - "baseId": 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+ "upstreamId": 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"text": "Microcephaly" }, { - "baseId": "17159|21235|22745|22745|25040|33995|100016|132609|136147|136149|136150|136151|136152|136153|136155|136156|136158|136159|136161|181399|191375|192361|196242|200983|200986|204050|207089|207711|207713|207717|207719|263284|272060|274730|307964|307965|307970|307972|307974|307975|307981|307986|307987|307989|307990|307992|307993|307997|312309|312311|312323|312326|312327|312337|312339|312341|312342|317994|318001|318004|318005|318006|318007|318020|318033|318035|318047|318559|318563|318566|318569|318574|318586|318591|318598|367600|379257|421712|434634|490210|514137|514138|514213|621017|621018|621020|621021|621024|621025|621026|621027|621031|621033|621035|621036|621037|621038|621039|621040|621041|624841|682313|682315|801165|801225|967144", + "upstreamId": "17159|21235|22745|22745|25040|33995|100016|132609|136147|136149|136150|136151|136152|136153|136155|136156|136158|136159|136161|181399|191375|192361|196242|200983|200986|204050|207089|207711|207713|207717|207719|263284|272060|274730|307964|307965|307970|307972|307974|307975|307981|307986|307987|307989|307990|307992|307993|307997|312309|312311|312323|312326|312327|312337|312339|312341|312342|317994|318001|318004|318005|318006|318007|318020|318033|318035|318047|318559|318563|318566|318569|318574|318586|318591|318598|367600|379257|421712|434634|490210|514137|514138|514213|621017|621018|621020|621021|621024|621025|621026|621027|621031|621033|621035|621036|621037|621038|621039|621040|621041|624841|682313|682315|801165|801225|967144", "text": "Congenital cerebellar hypoplasia" }, { - "baseId": "17159|361099", + "upstreamId": "17159|361099", "text": "Amblyopia" }, { - "baseId": "17159|426751|514138", + "upstreamId": "17159|426751|514138", "text": "Hypertonia" }, { - "baseId": "17159|101293|102069|102562|102563|102564|102565|102566|102567|134470|135541|141452|141453|141454|141455|141456|141457|141458|141459|141461|141462|141463|168082|168086|168087|168088|168089|168093|168095|168096|168097|169402|169406|169409|169410|169413|169414|169415|169416|169604|169605|169607|178107|190930|194562|195429|196096|196098|207036|208414|208418|208624|211268|211274|257208|271314|288534|288539|288541|288543|288544|288548|288549|289283|289300|289302|289306|289307|289308|289309|292259|292260|292265|292271|292275|292276|292280|292282|292283|292284|292295|292313|292407|292408|292410|292415|292416|292428|292432|292437|292438|292439|292441|292454|292457|293243|293268|294605|294606|298111|298127|298225|298237|298240|301220|304351|304355|304359|308980|312824|329821|329822|329823|329827|329829|329832|331247|331250|334276|334279|334281|334283|334296|334297|334309|340123|340125|340134|340135|340148|340152|340154|344219|344221|344223|344227|344228|344231|344233|344234|344236|344239|345840|345843|345844|345845|345846|345849|347220|349358|349361|349362|349365|349366|349369|349370|349373|350378|350379|350382|350383|350386|350387|350390|350391|353314|353454|353521|353522|353613|353798|379665|384448|384449|384450|422199|500014|507174|620101|620647|747946|793702|798920|861668|878419|878420|878421|878422|878423|878424|878425|878426|878427|878428|878429|878430|878431|878432|878433|880577|880578|882476|882477|882478|882479|882480|882481|882482|882483|882484|882485|882486|882487|882488|882489|882490|882491|882492|882493|887820|887821|887822|887823|887824|887825|887826|887827|887828|887829|887830|887831|887832|887833|887834|887835|891558", + "upstreamId": "17159|101293|102069|102562|102563|102564|102565|102566|102567|134470|135541|141452|141453|141454|141455|141456|141457|141458|141459|141461|141462|141463|168082|168086|168087|168088|168089|168093|168095|168096|168097|169402|169406|169409|169410|169413|169414|169415|169416|169604|169605|169607|178107|190930|194562|195429|196096|196098|207036|208414|208418|208624|211268|211274|257208|271314|288534|288539|288541|288543|288544|288548|288549|289283|289300|289302|289306|289307|289308|289309|292259|292260|292265|292271|292275|292276|292280|292282|292283|292284|292295|292313|292407|292408|292410|292415|292416|292428|292432|292437|292438|292439|292441|292454|292457|293243|293268|294605|294606|298111|298127|298225|298237|298240|301220|304351|304355|304359|308980|312824|329821|329822|329823|329827|329829|329832|331247|331250|334276|334279|334281|334283|334296|334297|334309|340123|340125|340134|340135|340148|340152|340154|344219|344221|344223|344227|344228|344231|344233|344234|344236|344239|345840|345843|345844|345845|345846|345849|347220|349358|349361|349362|349365|349366|349369|349370|349373|350378|350379|350382|350383|350386|350387|350390|350391|353314|353454|353521|353522|353613|353798|379665|384448|384449|384450|422199|500014|507174|620101|620647|747946|793702|798920|861668|878419|878420|878421|878422|878423|878424|878425|878426|878427|878428|878429|878430|878431|878432|878433|880577|880578|882476|882477|882478|882479|882480|882481|882482|882483|882484|882485|882486|882487|882488|882489|882490|882491|882492|882493|887820|887821|887822|887823|887824|887825|887826|887827|887828|887829|887830|887831|887832|887833|887834|887835|891558", "text": "Pontoneocerebellar hypoplasia" }, { - "baseId": "17163|169606|208624|791960", + "upstreamId": "17163|169606|208624|791960", "text": "Pontocerebellar hypoplasia type 2C" }, { - "baseId": "17164|168087|168090|168091|168093|168094|168097|178837|178838|178839|207034|207038|486741|486742", + "upstreamId": "17164|168087|168090|168091|168093|168094|168097|178837|178838|178839|207034|207038|486741|486742", "text": "Pontocerebellar hypoplasia type 2B" }, { - "baseId": "17165|177836|191707|193723|194518|195432|272280|312750|312754|312755|312766|312767|312770|312772|312776|312778|312779|312783|312784|312789|312795|312796|312801|312802|318744|318745|318758|318788|318789|318798|318815|318817|318818|318820|318822|318823|318827|324842|324846|324848|324853|324854|324870|324871|324872|324877|324884|324894|324897|325705|325708|325714|325719|325720|325734|325737|325745|325753|325754|325762|325763|325769|325770|325774|325782|488632|620829|701610|800426|802174|802175|838078|867200|867201|867202|867203|867204|867205|867206|867207|867208|867209|867210|867211|867212|867213|867214|867215|867216|867217|867218|868610|868611", + "upstreamId": "17165|177836|191707|193723|194518|195432|272280|312750|312754|312755|312766|312767|312770|312772|312776|312778|312779|312783|312784|312789|312795|312796|312801|312802|318744|318745|318758|318788|318789|318798|318815|318817|318818|318820|318822|318823|318827|324842|324846|324848|324853|324854|324870|324871|324872|324877|324884|324894|324897|325705|325708|325714|325719|325720|325734|325737|325745|325753|325754|325762|325763|325769|325770|325774|325782|488632|620829|701610|800426|802174|802175|838078|867200|867201|867202|867203|867204|867205|867206|867207|867208|867209|867210|867211|867212|867213|867214|867215|867216|867217|867218|868610|868611", "text": "Late-onset retinal degeneration" }, { - "baseId": "17166|17167|17168|17169|17170|177351|251047|289665|289669|289670|290393|290400|290411|290412|290413|293498|293500|293503|293505|293509|293510|293514|294058|294059|294061|294062|294063|367019|452002|500678|538974|608838|608876|608877|608880|609076|609077|622832|631110|720322|730200|748137|827771|888474|888475|888476|888477|888478|888479|888480|888481|888482|888483|888484|888485|891628|920190|943436", + "upstreamId": "17166|17167|17168|17169|17170|177351|251047|289665|289669|289670|290393|290400|290411|290412|290413|293498|293500|293503|293505|293509|293510|293514|294058|294059|294061|294062|294063|367019|452002|500678|538974|608838|608876|608877|608880|609076|609077|622832|631110|720322|730200|748137|827771|888474|888475|888476|888477|888478|888479|888480|888481|888482|888483|888484|888485|891628|920190|943436", "text": "ALG3-CDG" }, { - "baseId": "17171|17172|193740|195035|195440|268322|271392|273967|372461|390052|444827|444828|444830|461367|461371|461375|461698|462023|503666|503840|503846|526283|526285|526288|565862|567322|640130|640131|640132|640133|640134|652329|693054|701785|701786|738010|738011|752697|838542|838543|838544|838545|838546|852355|926263|926264|926265|935591", + "upstreamId": "17171|17172|193740|195035|195440|268322|271392|273967|372461|390052|444827|444828|444830|461367|461371|461375|461698|462023|503666|503840|503846|526283|526285|526288|565862|567322|640130|640131|640132|640133|640134|652329|693054|701785|701786|738010|738011|752697|838542|838543|838544|838545|838546|852355|926263|926264|926265|935591", "text": "Spondylocheirodysplasia, Ehlers-Danlos syndrome-like" }, { - "baseId": "17173|919342|965315|965316|965317", + "upstreamId": "17173|919342|965315|965316|965317", "text": "Vitamin d hydroxylation-deficient rickets, type 1b" }, { - "baseId": "17174|17175|792797", + "upstreamId": "17174|17175|792797", "text": "Dyslexia 1" }, { - "baseId": "17176|17177|194859|194860|287099|287105|287106|287844|290293|290301|290305|290660|290665|290704|622966|885388|885389|885390|885391|885392|885393|885394|885395|887387", + "upstreamId": "17176|17177|194859|194860|287099|287105|287106|287844|290293|290301|290305|290660|290665|290704|622966|885388|885389|885390|885391|885392|885393|885394|885395|887387", "text": "Premature ovarian failure 6" }, { - "baseId": 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+ "upstreamId": 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"text": "Cornelia de Lange syndrome 1" }, { - "baseId": "17191|17191|17193|17193|17195|17196|17197|101774|101776|192498|194477|265813|267825|269777|271334|271603|271603|272010|272698|347065|446353|489599|489816|491813|492858|494182|575212|584856|584967|586318|588541|821398|849023|849024|849025|849026|849027|939187|939188|939189|939190|941272|951322|951323|951324|951325|951326|951327|951328|959016|959017|959018|959019|959020", + "upstreamId": "17191|17191|17193|17193|17195|17196|17197|101774|101776|192498|194477|265813|267825|269777|271334|271603|271603|272010|272698|347065|446353|489599|489816|491813|492858|494182|575212|584856|584967|586318|588541|821398|849023|849024|849025|849026|849027|939187|939188|939189|939190|941272|951322|951323|951324|951325|951326|951327|951328|959016|959017|959018|959019|959020", "text": "Peroxisome biogenesis disorder 7B" }, { - "baseId": 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+ "upstreamId": 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"text": "Peroxisome biogenesis disorders, Zellweger syndrome spectrum" }, { - "baseId": 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+ "upstreamId": 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"text": "Peroxisome biogenesis disorder 7A" }, { - "baseId": 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+ "upstreamId": "17200|17201|17202|17203|17203|17204|17204|17204|17205|75263|102570|102578|102581|102581|133838|133839|133839|133840|133840|150228|150231|150233|191740|191968|191968|192166|192166|192704|192704|192795|192866|192867|194563|194564|194564|195068|213817|230189|254117|254125|254126|264605|264605|265545|265695|266391|266402|266417|266437|266552|266631|266634|266733|266733|266734|266734|267080|267436|267746|267983|268176|268204|269056|269308|269436|269458|269559|269575|269711|269789|269865|269906|269924|269979|270179|270428|270687|270687|270704|270711|272667|272754|273090|273182|273400|273464|273889|274566|274780|313663|319863|319881|327003|327012|360929|371340|372129|408319|408321|408322|425917|425919|429236|430997|444776|444777|444778|460424|460961|461065|461071|461074|461086|461091|461095|461379|461383|461385|461388|461388|461392|461394|461403|461406|461413|461417|461771|461774|461775|488826|489642|490435|492080|492529|493161|493392|493833|495273|526031|526102|526183|526193|526195|526537|526538|539033|564541|564542|564546|565007|565018|565605|565609|565610|565617|565621|567135|567145|569945|570455|570456|570463|585089|585974|588717|589608|608959|622896|639877|639878|639879|639880|639881|639882|639883|639884|639885|639886|639887|639888|639889|639890|639891|677236|692982|695504|752620|752622|768394|768395|791125|791126|792781|820348|820349|820350|820351|820352|838201|838202|838203|838204|838205|838206|838207|838208|838209|838210|838211|838212|838213|838214|838215|838216|838217|838218|838219|838220|838221|838222|851837|852340|919351|919352|920298|926174|926175|926176|926177|935458|935459|935460|935461|935462|935463|935464|940993|947386|947387|956447|956448", "text": "Gnathodiaphyseal dysplasia" }, { - "baseId": "17202|17202|17203|17203|17204|17204|17204|17205|17205|47882|47883|48349|102570|102578|102578|102581|102581|102581|133838|133839|133840|150228|150231|150233|191740|191740|191968|191968|191968|192166|192704|192795|192866|192867|194563|194563|194564|195068|213817|213817|213818|226474|230189|254117|254125|254126|264605|264605|265545|265695|266391|266402|266417|266437|266552|266631|266631|266634|266733|266734|267080|267436|267746|267983|268176|268204|269056|269308|269436|269458|269559|269575|269711|269789|269865|269906|269924|269979|270179|270179|270428|270428|270687|270704|270711|272667|272754|273069|273090|273182|273400|273464|273889|274566|274780|313663|319881|327003|327012|371340|372129|408319|408321|408322|425917|425919|429236|440222|444776|444777|444778|460424|460961|461062|461065|461071|461074|461086|461091|461095|461379|461383|461385|461388|461388|461392|461394|461403|461406|461413|461417|461771|461774|461775|488826|489642|490435|492080|492529|493161|493392|493833|494011|495273|526031|526102|526183|526193|526195|526537|526538|539033|539472|539975|564541|564542|564546|565007|565018|565605|565609|565610|565617|565621|567135|567145|569945|570455|570456|570463|585089|585974|588717|589608|608959|610424|622896|622896|639877|639878|639879|639880|639881|639882|639883|639884|639885|639886|639887|639888|639889|639890|639891|677236|681855|681859|692982|695504|752620|752622|768394|768395|802176|802177|820348|820349|820350|820351|820352|838201|838202|838203|838204|838205|838206|838207|838208|838209|838210|838211|838212|838213|838214|838215|838216|838217|838218|838219|838220|838221|838222|851837|852340|926174|926175|926176|926177|935458|935459|935460|935461|935462|935463|935464|940993|947386|947387|956447|956448", + "upstreamId": "17202|17202|17203|17203|17204|17204|17204|17205|17205|47882|47883|48349|102570|102578|102578|102581|102581|102581|133838|133839|133840|150228|150231|150233|191740|191740|191968|191968|191968|192166|192704|192795|192866|192867|194563|194563|194564|195068|213817|213817|213818|226474|230189|254117|254125|254126|264605|264605|265545|265695|266391|266402|266417|266437|266552|266631|266631|266634|266733|266734|267080|267436|267746|267983|268176|268204|269056|269308|269436|269458|269559|269575|269711|269789|269865|269906|269924|269979|270179|270179|270428|270428|270687|270704|270711|272667|272754|273069|273090|273182|273400|273464|273889|274566|274780|313663|319881|327003|327012|371340|372129|408319|408321|408322|425917|425919|429236|440222|444776|444777|444778|460424|460961|461062|461065|461071|461074|461086|461091|461095|461379|461383|461385|461388|461388|461392|461394|461403|461406|461413|461417|461771|461774|461775|488826|489642|490435|492080|492529|493161|493392|493833|494011|495273|526031|526102|526183|526193|526195|526537|526538|539033|539472|539975|564541|564542|564546|565007|565018|565605|565609|565610|565617|565621|567135|567145|569945|570455|570456|570463|585089|585974|588717|589608|608959|610424|622896|622896|639877|639878|639879|639880|639881|639882|639883|639884|639885|639886|639887|639888|639889|639890|639891|677236|681855|681859|692982|695504|752620|752622|768394|768395|802176|802177|820348|820349|820350|820351|820352|838201|838202|838203|838204|838205|838206|838207|838208|838209|838210|838211|838212|838213|838214|838215|838216|838217|838218|838219|838220|838221|838222|851837|852340|926174|926175|926176|926177|935458|935459|935460|935461|935462|935463|935464|940993|947386|947387|956447|956448", "text": "Limb-girdle muscular dystrophy, type 2L" }, { - "baseId": "17202|17203|17204|17205|48349|102581|191968|194563|264605|266631|425917|444778|461388|539033|610424|964846", + "upstreamId": "17202|17203|17204|17205|48349|102581|191968|194563|264605|266631|425917|444778|461388|539033|610424|964846", "text": "Miyoshi muscular dystrophy 3" }, { - "baseId": "17203|19066|20958|22321|22389|23085|23093|24609|24653|32584|32660|38596|56569|172652|172813|175617|189619|198685|199454|200340|206724|206924|206928|206954|208086|208584|208585|208586|208588|208589|208592|208723|208725|208726|270687|354302|360803|360829|360855|360929|360953|360956|361026|361045|361046|361052|361093|446892|513912|514049|514128|514175|623605|623606|625198|676966|677218|677235|677236|677240|677266|677273|788956|792691|801221|822323|857409|857415|969267|969268|972892|980758", + "upstreamId": "17203|19066|20958|22321|22389|23085|23093|24609|24653|32584|32660|38596|56569|172652|172813|175617|189619|198685|199454|200340|206724|206924|206928|206954|208086|208584|208585|208586|208588|208589|208592|208723|208725|208726|270687|354302|360803|360829|360855|360929|360953|360956|361026|361045|361046|361052|361093|446892|513912|514049|514128|514175|623605|623606|625198|676966|677218|677235|677236|677240|677266|677273|788956|792691|801221|822323|857409|857415|969267|969268|972892|980758", "text": "Myopathy" }, { - "baseId": "17203|513970|514056", + "upstreamId": "17203|513970|514056", "text": "Achilles tendon contracture" }, { - "baseId": "17203|19239|23318|23320|23322|23325|23326|98887|226138|270687|272349|275546|275548|275551|353883|360414|417651|417654|439919|439925|439928|501808|514010|514056|514095|514132|514135|514181|551401|551432|682500|961601|969272|980755|980756", + "upstreamId": "17203|19239|23318|23320|23322|23325|23326|98887|226138|270687|272349|275546|275548|275551|353883|360414|417651|417654|439919|439925|439928|501808|514010|514056|514095|514132|514135|514181|551401|551432|682500|961601|969272|980755|980756", "text": "Elevated serum creatine phosphokinase" }, { - "baseId": "17203|198685|198685|360933|360934|361020|514056|514181|682738|801539", + "upstreamId": "17203|198685|198685|360933|360934|361020|514056|514181|682738|801539", "text": "Lower limb muscle weakness" }, { - "baseId": "17203|28028|39430|514056", + "upstreamId": "17203|28028|39430|514056", "text": "Lower limb amyotrophy" }, { - "baseId": "17203|17204|192165|192866|266631|269575|620832", + "upstreamId": "17203|17204|192165|192866|266631|269575|620832", "text": "ANO5-Related Disorders" }, { - "baseId": "17206|17207|17208|101373|252048|298566|298570|298576|298578|298582|298583|298584|298588|298598|298601|298608|298609|298624|298627|300890|300893|300895|300900|300932|300935|300936|300944|300954|300972|300981|300986|300987|300993|300995|300996|301023|301024|305277|305284|305286|305297|305298|305316|305329|305346|305347|305370|305372|305373|305408|305410|305412|305413|305414|305415|305419|305433|305483|305485|305486|305487|305492|305493|305494|305496|305499|305512|305514|305515|305516|305523|305530|305537|305541|305542|305547|305550|305561|305564|305577|305578|305585|305589|305591|513061|895102|895103|895104|895105|895106|895107|895108|895109|895110|895111|895112|895113|895114|895115|895116|895117|895118|895119|895120|895121|895122|895123|895124|895125|895126|895127|895128|895129|895130|895131|895132|895133|895134|895135|895136|895137|895138|895139|895140|895141|895142|895143|895144|895145|895146|895147|895148|895149|895150|896172|896173|896174|918989|980326", + "upstreamId": "17206|17207|17208|101373|252048|298566|298570|298576|298578|298582|298583|298584|298588|298598|298601|298608|298609|298624|298627|300890|300893|300895|300900|300932|300935|300936|300944|300954|300972|300981|300986|300987|300993|300995|300996|301023|301024|305277|305284|305286|305297|305298|305316|305329|305346|305347|305370|305372|305373|305408|305410|305412|305413|305414|305415|305419|305433|305483|305485|305486|305487|305492|305493|305494|305496|305499|305512|305514|305515|305516|305523|305530|305537|305541|305542|305547|305550|305561|305564|305577|305578|305585|305589|305591|513061|895102|895103|895104|895105|895106|895107|895108|895109|895110|895111|895112|895113|895114|895115|895116|895117|895118|895119|895120|895121|895122|895123|895124|895125|895126|895127|895128|895129|895130|895131|895132|895133|895134|895135|895136|895137|895138|895139|895140|895141|895142|895143|895144|895145|895146|895147|895148|895149|895150|896172|896173|896174|918989|980326", "text": "Polycystic liver disease 2" }, { - "baseId": "17211|17212|17213|17214|17215|17216|17217|17218|17219|17220|17221|17222|17223|17224|89137|226925|313015|313016|313020|313023|313024|313025|313031|313034|313039|313050|313051|313058|313060|313067|313068|313069|313071|313072|313074|319013|319017|319021|319024|319034|319036|319039|319045|319049|319053|319054|319077|319079|319089|319090|319098|319111|319112|319115|319118|319123|319126|319128|319131|325198|325200|325202|325203|325204|325205|325220|325224|325239|325243|325246|325248|325249|326046|326055|326057|326058|326061|326068|326074|326075|326079|326080|326083|326084|326085|326087|326090|326091|552150|583110|620388|620389|620390|620391|724280|737835|752511|858563|867428|867429|867430|867431|867432|867433|867434|867435|867436|867437|867438|867439|867440|867441|867442|867443|867444|867445|867446|867447|867448|867449|867450|867451|867452|867453|867454|867455|867456|867457|868613|868614|963157|963158|983808|983809|983811|983812|983813|983814|983815|983818|983825|983826", + "upstreamId": "17211|17212|17213|17214|17215|17216|17217|17218|17219|17220|17221|17222|17223|17224|89137|226925|313015|313016|313020|313023|313024|313025|313031|313034|313039|313050|313051|313058|313060|313067|313068|313069|313071|313072|313074|319013|319017|319021|319024|319034|319036|319039|319045|319049|319053|319054|319077|319079|319089|319090|319098|319111|319112|319115|319118|319123|319126|319128|319131|325198|325200|325202|325203|325204|325205|325220|325224|325239|325243|325246|325248|325249|326046|326055|326057|326058|326061|326068|326074|326075|326079|326080|326083|326084|326085|326087|326090|326091|552150|583110|620388|620389|620390|620391|724280|737835|752511|858563|867428|867429|867430|867431|867432|867433|867434|867435|867436|867437|867438|867439|867440|867441|867442|867443|867444|867445|867446|867447|867448|867449|867450|867451|867452|867453|867454|867455|867456|867457|868613|868614|963157|963158|983808|983809|983811|983812|983813|983814|983815|983818|983825|983826", "text": "Gaze palsy, familial horizontal, with progressive scoliosis 1" }, { - "baseId": "17225|208410|248751|429999|445851|467193|468141|468148|468532|468742|468745|468749|468755|508888|530535|531443|531559|531561|531673|531675|531682|531683|531694|531893|531895|531896|531900|531901|569466|569467|569468|569474|569475|571429|571433|571434|571972|571979|571981|571994|571996|574562|574563|574564|574565|646378|646379|646380|646381|646382|646383|652831|694140|695763|704281|715618|715619|727340|756019|756021|771714|771716|789385|845836|845837|845838|845839|845840|845841|845842|845843|845844|845845|845846|928431|928432|928433|928434|928435|928436|928437|938109|938110|938111|938112|938113|938114|938115|938116|941192|950129|950130|950131|950132|950133|958232|958233|958234|958235|958236|960231", + "upstreamId": "17225|208410|248751|429999|445851|467193|468141|468148|468532|468742|468745|468749|468755|508888|530535|531443|531559|531561|531673|531675|531682|531683|531694|531893|531895|531896|531900|531901|569466|569467|569468|569474|569475|571429|571433|571434|571972|571979|571981|571994|571996|574562|574563|574564|574565|646378|646379|646380|646381|646382|646383|652831|694140|695763|704281|715618|715619|727340|756019|756021|771714|771716|789385|845836|845837|845838|845839|845840|845841|845842|845843|845844|845845|845846|928431|928432|928433|928434|928435|928436|928437|938109|938110|938111|938112|938113|938114|938115|938116|941192|950129|950130|950131|950132|950133|958232|958233|958234|958235|958236|960231", "text": "Polyhydramnios, megalencephaly, and symptomatic epilepsy" }, { - "baseId": "17226|17227|17228|17229|17230|47854|47855|47856|47857|47858|47859|47860|47861|47862|47863|47864|47865|47866|47867|47868|47869|47870|47871|47872|47873|47874|47875|47876|47877|47878|47879|47880|47881|177662|177663|177664|177666|191114|206572|251427|251428|292967|292968|292978|292980|292981|292982|292993|292995|292996|293003|293008|293009|293012|293015|293018|293022|293032|293034|293040|294375|294393|294398|294407|294411|294415|294416|294417|294418|294421|294424|294425|294426|294429|294432|294433|294435|294439|294445|294448|297815|297824|297840|297842|297854|297855|297856|297857|297866|297867|297868|297869|297870|297871|297882|297883|297885|297889|297890|297891|297892|297894|297898|297899|297903|297908|297909|297913|297916|297920|297929|297941|297942|297955|297956|297961|297962|297969|297970|297973|297990|359278|486367|488711|624031|709273|790462|800495|800496|890529|890530|890531|890532|890533|890534|890535|890536|890537|890538|890539|890540|890541|890542|890543|890544|890545|890546|890547|890548|890549|890550|890551|890552|890553|890554|890555|890556|890557|890558|890559|890560|890561|890562|890563|890564|890565|890566|890567|890568|890569|890570|890571|890572|890573|890574|890575|890576|891778|891779|891780|918246", + "upstreamId": "17226|17227|17228|17229|17230|47854|47855|47856|47857|47858|47859|47860|47861|47862|47863|47864|47865|47866|47867|47868|47869|47870|47871|47872|47873|47874|47875|47876|47877|47878|47879|47880|47881|177662|177663|177664|177666|191114|206572|251427|251428|292967|292968|292978|292980|292981|292982|292993|292995|292996|293003|293008|293009|293012|293015|293018|293022|293032|293034|293040|294375|294393|294398|294407|294411|294415|294416|294417|294418|294421|294424|294425|294426|294429|294432|294433|294435|294439|294445|294448|297815|297824|297840|297842|297854|297855|297856|297857|297866|297867|297868|297869|297870|297871|297882|297883|297885|297889|297890|297891|297892|297894|297898|297899|297903|297908|297909|297913|297916|297920|297929|297941|297942|297955|297956|297961|297962|297969|297970|297973|297990|359278|486367|488711|624031|709273|790462|800495|800496|890529|890530|890531|890532|890533|890534|890535|890536|890537|890538|890539|890540|890541|890542|890543|890544|890545|890546|890547|890548|890549|890550|890551|890552|890553|890554|890555|890556|890557|890558|890559|890560|890561|890562|890563|890564|890565|890566|890567|890568|890569|890570|890571|890572|890573|890574|890575|890576|891778|891779|891780|918246", "text": "Bietti crystalline corneoretinal dystrophy" }, { - "baseId": "17231", + "upstreamId": "17231", "text": "Asthma-related traits, susceptibility to, 2" }, { - "baseId": "17232|17233|87970|102447|102448|152884|227315|227316|227317|260789|267740|303772|303780|303781|303787|303788|303794|303795|303797|303798|303800|303804|303812|303814|303817|303818|303820|303821|303822|303826|303827|303829|303830|303835|303836|303837|303841|303844|303845|303854|303855|303863|303865|303866|303868|303870|303879|303884|303886|303890|303895|303896|303903|303904|303907|303908|303911|303912|303914|303918|303920|303921|303923|303927|303934|303943|303944|303945|303947|307271|307273|307277|307278|307279|307291|307295|307296|307297|307316|307317|307318|307331|307332|307336|307340|307345|307346|307347|307350|307351|307352|307358|307359|307360|307362|307365|307371|307372|307378|307382|307384|307385|307387|307388|307389|307390|307391|307393|307394|307396|307398|307399|307400|307405|307408|307415|307427|307429|307430|307431|307433|307434|307442|307446|307447|307448|307458|307464|307479|307481|307482|307483|307484|312129|312130|312133|312135|312139|312140|312143|312150|312151|312156|312161|312166|312170|312177|312179|312180|312181|312196|312200|312214|312221|312222|312233|312235|312239|312241|312243|312245|312247|312251|312254|312260|312261|312266|312269|312270|312271|312273|312274|312283|312285|312287|312288|312289|312291|312296|312298|312301|312302|312304|312312|312313|312315|312316|312317|312319|312320|312321|312322|312328|312331|312335|312336|312349|312351|312354|312356|312357|312360|312363|312366|312367|312368|312371|312379|312381|312383|312385|312386|312390|312393|312399|312406|312408|312410|312413|312414|312415|312416|312418|312423|312427|312433|312435|312440|312441|312442|312444|312445|312446|312447|312448|312450|312451|312452|312456|312457|312458|312462|312463|312467|312469|312474|312478|312479|312482|312484|312488|312490|312491|312492|312494|312497|312501|312504|312513|312514|312518|312520|312523|312535|312538|312542|361319|361489|413764|413765|413767|413769|438379|486430|486431|486434|486435|490785|513293|612800|612804|619921|620283|620284|620285|620286|711228|736394|790770|790771|790772|859642|898609|898610|898611|898612|898613|898614|898615|898616|898617|898618|898619|898620|898621|898622|898623|898624|898625|898626|898627|898628|898629|898630|898631|898632|898633|898634|898635|898636|898637|898638|898639|898640|898641|898642|898643|898644|898645|898646|898647|898648|898649|898650|898651|898652|898653|898654|898655|898656|898657|898658|898659|898660|898661|898662|898663|898664|898665|898666|898667|898668|898669|898670|898671|898672|898673|898674|898675|898676|898677|898678|898679|898680|898681|898682|898683|898684|898685|898686|898687|898688|898689|898690|898691|898692|898693|898694|898695|898696|898697|898698|898699|898700|898701|898702|898703|898704|898705|898706|898707|898708|898709|898710|898711|898712|898713|898714|898715|898716|898717|898718|898719|898720|898721|898722|898723|898724|898725|898726|898727|898728|898729|898730|898731|898732|898733|898734|898735|898736|898737|898738|898739|898740|898741|898742|898743|898744|898745|898746|898747|898748|953335|980929", + "upstreamId": "17232|17233|87970|102447|102448|152884|227315|227316|227317|260789|267740|303772|303780|303781|303787|303788|303794|303795|303797|303798|303800|303804|303812|303814|303817|303818|303820|303821|303822|303826|303827|303829|303830|303835|303836|303837|303841|303844|303845|303854|303855|303863|303865|303866|303868|303870|303879|303884|303886|303890|303895|303896|303903|303904|303907|303908|303911|303912|303914|303918|303920|303921|303923|303927|303934|303943|303944|303945|303947|307271|307273|307277|307278|307279|307291|307295|307296|307297|307316|307317|307318|307331|307332|307336|307340|307345|307346|307347|307350|307351|307352|307358|307359|307360|307362|307365|307371|307372|307378|307382|307384|307385|307387|307388|307389|307390|307391|307393|307394|307396|307398|307399|307400|307405|307408|307415|307427|307429|307430|307431|307433|307434|307442|307446|307447|307448|307458|307464|307479|307481|307482|307483|307484|312129|312130|312133|312135|312139|312140|312143|312150|312151|312156|312161|312166|312170|312177|312179|312180|312181|312196|312200|312214|312221|312222|312233|312235|312239|312241|312243|312245|312247|312251|312254|312260|312261|312266|312269|312270|312271|312273|312274|312283|312285|312287|312288|312289|312291|312296|312298|312301|312302|312304|312312|312313|312315|312316|312317|312319|312320|312321|312322|312328|312331|312335|312336|312349|312351|312354|312356|312357|312360|312363|312366|312367|312368|312371|312379|312381|312383|312385|312386|312390|312393|312399|312406|312408|312410|312413|312414|312415|312416|312418|312423|312427|312433|312435|312440|312441|312442|312444|312445|312446|312447|312448|312450|312451|312452|312456|312457|312458|312462|312463|312467|312469|312474|312478|312479|312482|312484|312488|312490|312491|312492|312494|312497|312501|312504|312513|312514|312518|312520|312523|312535|312538|312542|361319|361489|413764|413765|413767|413769|438379|486430|486431|486434|486435|490785|513293|612800|612804|619921|620283|620284|620285|620286|711228|736394|790770|790771|790772|859642|898609|898610|898611|898612|898613|898614|898615|898616|898617|898618|898619|898620|898621|898622|898623|898624|898625|898626|898627|898628|898629|898630|898631|898632|898633|898634|898635|898636|898637|898638|898639|898640|898641|898642|898643|898644|898645|898646|898647|898648|898649|898650|898651|898652|898653|898654|898655|898656|898657|898658|898659|898660|898661|898662|898663|898664|898665|898666|898667|898668|898669|898670|898671|898672|898673|898674|898675|898676|898677|898678|898679|898680|898681|898682|898683|898684|898685|898686|898687|898688|898689|898690|898691|898692|898693|898694|898695|898696|898697|898698|898699|898700|898701|898702|898703|898704|898705|898706|898707|898708|898709|898710|898711|898712|898713|898714|898715|898716|898717|898718|898719|898720|898721|898722|898723|898724|898725|898726|898727|898728|898729|898730|898731|898732|898733|898734|898735|898736|898737|898738|898739|898740|898741|898742|898743|898744|898745|898746|898747|898748|953335|980929", "text": "Occult macular dystrophy" }, { - "baseId": "17232|59496|513293|612797|816398|816399|816400|919131|919132|919133|919134", + "upstreamId": "17232|59496|513293|612797|816398|816399|816400|919131|919132|919133|919134", "text": "Retinitis pigmentosa 88" }, { - "baseId": "17234|97553", + "upstreamId": "17234|97553", "text": "Deafness, autosomal dominant 28" }, { - "baseId": "17235|17236|17237|17238|17239|53211|53212|53213|53214|53217|53218|53219|53220|53223|53224|53225|53226|53227|53228|53229|53230|53231|53233|53234|53235|53236|53237|53238|53239|53240|53241|53243|53244|53246|53247|53249|176036|176037|176039|176043|176046|176049|176052|176053|176058|176062|176182|176183|176190|176191|176193|176198|176199|176203|176204|176205|199809|231050|231053|231055|231062|231067|231068|231071|231073|231075|270993|271198|271836|334107|334109|334112|334115|334116|334118|334130|334134|334140|334142|334145|334157|334159|334161|334166|334168|334172|344014|344015|344017|344020|344022|344024|344026|344028|344030|344030|344032|344033|344036|344039|344047|344050|349269|349270|349271|349272|349275|349278|349282|349285|349287|349289|349290|349293|349294|349297|350249|350252|350253|350259|350260|350263|350264|350268|350271|350272|350274|350277|350279|350284|350285|350288|350291|350292|350296|497322|497779|536994|578570|614516|620913|622469|624869|625878|742078|745258|786259|793803|800150|861598|882335|882336|882337|882338|882339|882340|882341|882342|882343|882344|882345|882346|882347|882348|882349|882350|882351|882352|882353|882354|882355|882356|882357|882358|882359|882360|882361|882362|882363|882364|882365|882366|882367|882368|882369|882370|882371|882372|882373|882374|882375|882376|882377|882378|882379|882380|882381|882382|882383|882384|882385|882386|882387|882388|882389|882390|882391|882392|882393|882394|882395|882396|882397|882398|882399|882400|882401|882919|882920|882921|882922|961349", + "upstreamId": "17235|17236|17237|17238|17239|53211|53212|53213|53214|53217|53218|53219|53220|53223|53224|53225|53226|53227|53228|53229|53230|53231|53233|53234|53235|53236|53237|53238|53239|53240|53241|53243|53244|53246|53247|53249|176036|176037|176039|176043|176046|176049|176052|176053|176058|176062|176182|176183|176190|176191|176193|176198|176199|176203|176204|176205|199809|231050|231053|231055|231062|231067|231068|231071|231073|231075|270993|271198|271836|334107|334109|334112|334115|334116|334118|334130|334134|334140|334142|334145|334157|334159|334161|334166|334168|334172|344014|344015|344017|344020|344022|344024|344026|344028|344030|344030|344032|344033|344036|344039|344047|344050|349269|349270|349271|349272|349275|349278|349282|349285|349287|349289|349290|349293|349294|349297|350249|350252|350253|350259|350260|350263|350264|350268|350271|350272|350274|350277|350279|350284|350285|350288|350291|350292|350296|497322|497779|536994|578570|614516|620913|622469|624869|625878|742078|745258|786259|793803|800150|861598|882335|882336|882337|882338|882339|882340|882341|882342|882343|882344|882345|882346|882347|882348|882349|882350|882351|882352|882353|882354|882355|882356|882357|882358|882359|882360|882361|882362|882363|882364|882365|882366|882367|882368|882369|882370|882371|882372|882373|882374|882375|882376|882377|882378|882379|882380|882381|882382|882383|882384|882385|882386|882387|882388|882389|882390|882391|882392|882393|882394|882395|882396|882397|882398|882399|882400|882401|882919|882920|882921|882922|961349", "text": "Deafness, autosomal dominant 4" }, { - "baseId": "17240|17241|17242|17243|94426|94427|94428|190560|192502|192503|192855|194998|221061|255429|255431|255432|255435|255437|255438|255440|273438|323584|323587|323591|323594|323596|323600|333314|333316|333322|333327|340094|340095|340098|340102|340109|340110|340114|341541|341543|341550|341552|341554|429751|491044|491452|492181|493464|493758|513106|514682|578522|582601|615892|623160|623179|682127|703427|776113|874324|874325|874326|874327|874328|874329|874330|874331|874332|874333|874334|874335|876593|876594|876595|876596", + "upstreamId": "17240|17241|17242|17243|94426|94427|94428|190560|192502|192503|192855|194998|221061|255429|255431|255432|255435|255437|255438|255440|273438|323584|323587|323591|323594|323596|323600|333314|333316|333322|333327|340094|340095|340098|340102|340109|340110|340114|341541|341543|341550|341552|341554|429751|491044|491452|492181|493464|493758|513106|514682|578522|582601|615892|623160|623179|682127|703427|776113|874324|874325|874326|874327|874328|874329|874330|874331|874332|874333|874334|874335|876593|876594|876595|876596", "text": "Arthrogryposis, renal dysfunction, and cholestasis 1" }, { - "baseId": "17244", + "upstreamId": "17244", "text": "MACULAR DEGENERATION, AGE-RELATED, 1, SUSCEPTIBILITY TO" }, { - "baseId": 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"text": "Age-related macular degeneration 1" }, { - "baseId": "17245|17251|227783|325116|325118|334771|341254|679794|714884|875107|875108|875109|875110|875111|875112|875113|875114|875115|875116|875117|875118|875119|876653", + "upstreamId": "17245|17251|227783|325116|325118|334771|341254|679794|714884|875107|875108|875109|875110|875111|875112|875113|875114|875115|875116|875117|875118|875119|876653", "text": "Vitamin K-dependent clotting factors, combined deficiency of, 2" }, { - "baseId": "17246|17247|17248|17249|17250|17251|23447|23448|23449|32008|32012|32887|32903|38302|75246|133867|133869|133871|133874|176160|250533|611348|611349|611350|679794", + "upstreamId": "17246|17247|17248|17249|17250|17251|23447|23448|23449|32008|32012|32887|32903|38302|75246|133867|133869|133871|133874|176160|250533|611348|611349|611350|679794", "text": "Warfarin response" }, { - "baseId": "17251|23447|23448|38302|227760|227769|227772|227774|227781|227782|227783|227784|227785|227786|227787|227800|362496|362502|538602", + "upstreamId": "17251|23447|23448|38302|227760|227769|227772|227774|227781|227782|227783|227784|227785|227786|227787|227800|362496|362502|538602", "text": "warfarin response - Dosage" }, { - "baseId": "17252|102117|102118|102119|132658|177417|192550|213192|213193|222488|222489|255741|255742|266590|325333|325334|325335|325338|325342|325346|325354|334963|334969|334972|334973|334978|334981|334984|334990|334992|334995|334996|334999|335020|335021|335027|335030|335031|341455|341456|341459|341462|341465|341466|341472|341474|341475|341477|341478|341480|341482|341484|341486|341487|342953|342954|342955|342958|342959|342962|342965|342971|342972|342974|342978|342980|342981|342983|342985|843872|875259|875260|875261|875262|875263|875264|875265|875266|875267|875268|875269|875270|875271|875272|875273|875274|875275|875276|875277|875278|875279|875280|875281|875282|875283|875284|875285|875286|875287|875288|875289|876668|876669", + "upstreamId": "17252|102117|102118|102119|132658|177417|192550|213192|213193|222488|222489|255741|255742|266590|325333|325334|325335|325338|325342|325346|325354|334963|334969|334972|334973|334978|334981|334984|334990|334992|334995|334996|334999|335020|335021|335027|335030|335031|341455|341456|341459|341462|341465|341466|341472|341474|341475|341477|341478|341480|341482|341484|341486|341487|342953|342954|342955|342958|342959|342962|342965|342971|342972|342974|342978|342980|342981|342983|342985|843872|875259|875260|875261|875262|875263|875264|875265|875266|875267|875268|875269|875270|875271|875272|875273|875274|875275|875276|875277|875278|875279|875280|875281|875282|875283|875284|875285|875286|875287|875288|875289|876668|876669", "text": "Nephronophthisis 7" }, { - "baseId": 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"text": "Von Hippel-Lindau syndrome" }, { - "baseId": 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"text": "Renal cell carcinoma, papillary, 1" }, { - "baseId": 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"17254|17255|17256|17257|17257|17258|17261|17262|17264|17264|17265|17266|17268|17268|17269|17269|17270|17271|17271|17272|17273|17273|17274|17274|17276|17277|45560|45561|45562|45566|45567|50304|52765|52766|52768|52769|52772|99233|99234|99236|99237|133285|133287|136455|139144|139145|139146|139663|139664|139665|139666|139667|139668|141608|150758|150758|171078|171079|171080|171081|173736|180107|180109|180117|180119|180120|180121|180123|180125|182205|182206|182208|186008|186009|192254|212277|212278|212279|212280|212283|212285|212286|217068|221343|221344|221347|221350|221351|221352|221354|221356|221357|224889|224892|224895|224897|224899|224900|224901|224902|224905|224907|224918|224919|224922|224924|224926|224929|224931|224933|224936|224937|224938|224940|224950|224956|224957|224958|224960|224962|232860|232862|232864|239029|239043|239044|239045|239046|239047|239048|239049|239050|239051|239052|239053|239054|239055|239056|244404|244405|244406|244407|291708|358729|358730|358731|358732|358732|358733|361857|363101|366863|366866|367095|367098|367100|367103|367126|367133|368080|368104|368107|368137|393129|393147|393165|393169|393171|393173|393174|393175|393176|393178|393181|393183|393185|393187|393188|393191|393194|393196|393198|393200|393206|393212|393216|393219|393223|393224|393224|393229|393232|393301|393307|393347|393350|393358|393367|393370|393374|393378|393521|393522|393531|393533|393535|393551|393563|393564|393565|393569|393572|406057|406058|406059|406061|406062|406063|406065|406066|406067|406069|406071|406074|406075|406075|420439|420444|420449|420453|420455|434038|451527|451599|451602|451603|451605|451610|451613|451617|451860|451864|451864|451866|451869|451870|451876|451889|451891|451919|451920|451924|451929|451937|451938|452005|452072|452077|452080|452081|452086|452088|452091|452101|452120|452121|452124|473279|473281|473309|473326|473327|473337|473349|473440|473451|473461|473470|486979|486985|487013|487017|487024|487031|500395|500402|500410|500412|518665|518667|518671|518681|518683|518692|518693|518695|518723|518728|518729|518732|518734|518735|518739|518741|518742|518746|518749|518901|518908|518912|518914|518916|518918|518920|518921|518939|518940|518949|518950|518952|518954|518960|536270|539230|551810|551820|558700|558724|558726|558728|558728|558730|558732|558734|558736|559217|559253|559255|559257|559259|559261|559263|559265|559267|559269|561070|561074|561079|561083|561087|561088|561090|562171|562228|562231|562232|562236|562248|575528|575529|613553|613555|613562|613572|613603|621143|621144|623184|630696|630697|630698|630699|630700|630701|630702|630703|630704|630705|630706|630707|630708|630709|630710|630711|630712|630713|630714|630715|630716|630717|630718|630719|630720|630721|630722|630723|630724|630725|630726|630727|630728|630729|630730|630731|650954|650960|650965|651014|651028|651030|651054|651060|651065|651102|651103|651105|651150|686277|686278|686279|691251|697727|697728|697730|733663|744001|747856|747858|747860|763496|763497|763500|763501|763502|763503|777301|781500|804891|804891|804892|804892|804895|804895|807484|807488|807491|819296|819297|819298|819299|819302|819303|819304|819305|819306|819307|819308|819309|819310|822257|822258|827274|827275|827276|827277|827278|827279|827280|827281|827282|827283|827284|827285|827286|827287|827288|827289|827290|827291|827292|827293|827294|827295|827296|827297|827298|827299|850893|850895|850897|850899|850901|850981|850983|850985|850987|850989|850991|850993|850995|851009|851011|851013|851015|851218|851220|851222|851224|851226|851228|851231|851233|851235|851238|851241|851246|851248|851252|851254|851257|851456|851458|851497|851514|851518|851522|851526|922978|922979|922980|922981|922982|922983|922984|931669|931670|931671|931672|931673|931674|931675|931676|931677|931678|931679|931680|939921|939922|939923|939924|939925|940727|940728|940729|940730|940731|940732|940733|943243|943244|943245|943246|943247|943248|943249|953289|953290|953291|953292|953293|953294|959665|959666|959667|959668|959669|959670|959671|959672|959673|960496|960497|960498|960499|960500|960501|960502|960503", "text": "Erythrocytosis, familial, 2" }, { - "baseId": "17256|32544|32545|32546|32547|32548|32549|32550|32551|32552|32553|32554|134164|134165|134166|134167|134169|134170|134171|134174|134175|134176|191271|191585|196053|196316|196317|207744|253776|253778|253781|253783|253788|264430|269344|272147|274181|359962|404787|407859|407860|421793|425878|429068|441375|459902|459905|459907|459910|459912|459917|460078|460080|460084|460331|460334|460339|460342|460348|460350|460354|460757|460765|460766|460774|460778|488721|489165|490064|513998|525181|525183|525352|525357|525476|525659|525661|538412|538413|563787|563789|563790|563792|564599|564601|566313|566314|566318|566325|566326|566331|566339|569671|569673|569675|576137|612481|612482|638951|638952|638953|638954|638955|638956|638957|638958|638959|638960|638961|638962|638963|638964|638965|638966|638967|651966|652002|652104|652138|692853|692854|692856|692857|692859|692860|692861|692862|695480|701366|737511|737512|752120|767772|778085|783615|790963|836918|836919|836920|836921|836922|836923|836924|836925|836926|836927|836928|836929|836930|836931|836932|836933|836934|836935|836936|836937|836938|836939|836940|852257|852546|925818|925819|925820|925821|925822|925823|925824|925825|925826|925827|925828|925829|935059|935060|935061|935062|935063|935064|935065|935066|946923|946924|946925|946926|946927|946928|946929|946930|946931|946932|946933|946934|956078", + "upstreamId": "17256|32544|32545|32546|32547|32548|32549|32550|32551|32552|32553|32554|134164|134165|134166|134167|134169|134170|134171|134174|134175|134176|191271|191585|196053|196316|196317|207744|253776|253778|253781|253783|253788|264430|269344|272147|274181|359962|404787|407859|407860|421793|425878|429068|441375|459902|459905|459907|459910|459912|459917|460078|460080|460084|460331|460334|460339|460342|460348|460350|460354|460757|460765|460766|460774|460778|488721|489165|490064|513998|525181|525183|525352|525357|525476|525659|525661|538412|538413|563787|563789|563790|563792|564599|564601|566313|566314|566318|566325|566326|566331|566339|569671|569673|569675|576137|612481|612482|638951|638952|638953|638954|638955|638956|638957|638958|638959|638960|638961|638962|638963|638964|638965|638966|638967|651966|652002|652104|652138|692853|692854|692856|692857|692859|692860|692861|692862|695480|701366|737511|737512|752120|767772|778085|783615|790963|836918|836919|836920|836921|836922|836923|836924|836925|836926|836927|836928|836929|836930|836931|836932|836933|836934|836935|836936|836937|836938|836939|836940|852257|852546|925818|925819|925820|925821|925822|925823|925824|925825|925826|925827|925828|925829|935059|935060|935061|935062|935063|935064|935065|935066|946923|946924|946925|946926|946927|946928|946929|946930|946931|946932|946933|946934|956078", "text": "Familial infantile myasthenia" }, { - "baseId": "17257|52768|138162|235483|247653|327448|358732|406075|451864|467353|512896|530769|551810|558728", + "upstreamId": "17257|52768|138162|235483|247653|327448|358732|406075|451864|467353|512896|530769|551810|558728", "text": "Renal cell carcinoma, nonpapillary" }, { - "baseId": "17270", + "upstreamId": "17270", "text": "Renal cell carcinoma with paraneoplastic erythrocytosis" }, { - "baseId": "17271", + "upstreamId": "17271", "text": "Acute leukemia of ambiguous lineage" }, { - "baseId": "17272|22494|22868|27386|27395|27404|27405|27413|27612|27614|27645|28117|28129|28691|28918|28924|28928|28948|28970|29000|29003|29005|29008|29010|30972|30973|48834|48858|50062|50063|52763|53970|53979|132320|151829|170209|174042|180313|182676|183040|186283|206650|206652|362755|362943|362944|362945|362946|363067|363068|363069|363070|363071|363072|363073|363074|363075|363076|363077|363078|363079|363080|363081|363101|363115|363117|363118|363133|363136|363137|363138|363139|363140|363141|363142|363143|363144|363145|363146|363147|363148|363149|363150|363151|363152|363153|363170|363171|363172|363173|363175|363176|363177|363178|363179|363180|363181|363182|363183|363184|363185|363186|363187|363188|363189|363197|363198|363199|363200|363201|363202|363213|363214|363216|363217|363218|551405|551406|567807", + "upstreamId": "17272|22494|22868|27386|27395|27404|27405|27413|27612|27614|27645|28117|28129|28691|28918|28924|28928|28948|28970|29000|29003|29005|29008|29010|30972|30973|48834|48858|50062|50063|52763|53970|53979|132320|151829|170209|174042|180313|182676|183040|186283|206650|206652|362755|362943|362944|362945|362946|363067|363068|363069|363070|363071|363072|363073|363074|363075|363076|363077|363078|363079|363080|363081|363101|363115|363117|363118|363133|363136|363137|363138|363139|363140|363141|363142|363143|363144|363145|363146|363147|363148|363149|363150|363151|363152|363153|363170|363171|363172|363173|363175|363176|363177|363178|363179|363180|363181|363182|363183|363184|363185|363186|363187|363188|363189|363197|363198|363199|363200|363201|363202|363213|363214|363216|363217|363218|551405|551406|567807", "text": "Neoplasm" }, { - "baseId": "17272|29000|32615|32627|97610|185444|313895|313897|313901|313913|313932|320206|320208|320209|320216|320220|320227|320232|320235|320282|320286|320288|320289|326279|326280|326283|326285|326288|326290|326296|327287|327288|327326|327346|327353|398614|432376|432389|432396|432403|432420|961568", + "upstreamId": "17272|29000|32615|32627|97610|185444|313895|313897|313901|313913|313932|320206|320208|320209|320216|320220|320227|320232|320235|320282|320286|320288|320289|326279|326280|326283|326285|326288|326290|326296|327287|327288|327326|327346|327353|398614|432376|432389|432396|432403|432420|961568", "text": "Nephroblastoma" }, { - "baseId": "17278|17280|17281|17282|17283|17284|17285|17286|17287|79377|79378|79379|79380|79382|79383|79384|79385|79386|79387|79388|79389|194829|249581|249582|249583|265448|265556|271388|277753|277754|277757|277758|277859|277860|277861|277863|277869|277870|278804|278806|278807|278813|278814|278865|278882|278897|364643|447325|447538|447556|489335|514875|515321|515346|515402|515403|556710|556712|556714|556759|556761|557066|557068|620710|627146|627147|627148|627149|627150|627151|627152|627153|627154|627155|627156|627157|627158|627159|627160|650697|706920|718429|731913|745889|745891|745892|745894|745896|761388|761389|761390|761391|761392|818876|823046|823047|823048|823049|823050|823051|823052|823053|850746|850941|850943|851255|862944|862945|862946|862947|862948|862949|862950|862951|862952|921765|921766|921767|930181|930182|930183|930184|940612|941594|941595|959533|961923", + "upstreamId": "17278|17280|17281|17282|17283|17284|17285|17286|17287|79377|79378|79379|79380|79382|79383|79384|79385|79386|79387|79388|79389|194829|249581|249582|249583|265448|265556|271388|277753|277754|277757|277758|277859|277860|277861|277863|277869|277870|278804|278806|278807|278813|278814|278865|278882|278897|364643|447325|447538|447556|489335|514875|515321|515346|515402|515403|556710|556712|556714|556759|556761|557066|557068|620710|627146|627147|627148|627149|627150|627151|627152|627153|627154|627155|627156|627157|627158|627159|627160|650697|706920|718429|731913|745889|745891|745892|745894|745896|761388|761389|761390|761391|761392|818876|823046|823047|823048|823049|823050|823051|823052|823053|850746|850941|850943|851255|862944|862945|862946|862947|862948|862949|862950|862951|862952|921765|921766|921767|930181|930182|930183|930184|940612|941594|941595|959533|961923", "text": "Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 2" }, { - "baseId": "17288|17289|17290|17291|17292|17293|17294|415113|614314|624360|961954", + "upstreamId": "17288|17289|17290|17291|17292|17293|17294|415113|614314|624360|961954", "text": "Chronic granulomatous disease, autosomal recessive cytochrome b-positive, type 1" }, { - "baseId": "17295|17297|17298|17299|17300|17301|17302|17303|17304|17305|17306|79102|247122|255945|255946|268891|270031|273728|409771|445656|466099|466880|467155|467157|530378|530680|530689|530907|530909|530913|548610|568452|570585|574198|589145|610427|610428|645104|645105|645106|645107|645108|645109|645110|645111|645112|645113|645114|652489|652595|652771|653073|731106|740441|740442|771138|771141|771142|771143|771144|771145|771146|771147|771148|771149|776406|820907|820908|820909|844464|844465|844466|844467|844468|844469|844470|844471|844472|851685|927999|928000|928001|937653|937654|937655|941151|949622|949623|957910|957911|957912|960183|960184|960858", + "upstreamId": "17295|17297|17298|17299|17300|17301|17302|17303|17304|17305|17306|79102|247122|255945|255946|268891|270031|273728|409771|445656|466099|466880|467155|467157|530378|530680|530689|530907|530909|530913|548610|568452|570585|574198|589145|610427|610428|645104|645105|645106|645107|645108|645109|645110|645111|645112|645113|645114|652489|652595|652771|653073|731106|740441|740442|771138|771141|771142|771143|771144|771145|771146|771147|771148|771149|776406|820907|820908|820909|844464|844465|844466|844467|844468|844469|844470|844471|844472|851685|927999|928000|928001|937653|937654|937655|941151|949622|949623|957910|957911|957912|960183|960184|960858", "text": "Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative" }, { - "baseId": "17299|17304|38924|38925|39150|79102|224721|255945|255946|268891|277749|277751|277752|277850|277853|277857|277875|278841|278843|278845|409771|422469|445656|467157|470778|530378|574198|645105|645106|645107|645108|645111|652595|729577|729578|731106|740441|740442|771141|771144|771146|776406|785412|844465|844466|844469|844470|844471|850027|979811|979812|979813|979814|979815|979816|979817|979818|980101|980102|980103|980104|980105|980106|980107", + "upstreamId": "17299|17304|38924|38925|39150|79102|224721|255945|255946|268891|277749|277751|277752|277850|277853|277857|277875|278841|278843|278845|409771|422469|445656|467157|470778|530378|574198|645105|645106|645107|645108|645111|652595|729577|729578|731106|740441|740442|771141|771144|771146|776406|785412|844465|844466|844469|844470|844471|850027|979811|979812|979813|979814|979815|979816|979817|979818|980101|980102|980103|980104|980105|980106|980107", "text": "Chronic granulomatous disease" }, { - "baseId": "17302", + "upstreamId": "17302", "text": "CYBA POLYMORPHISM" }, { - "baseId": "17302|590651", + "upstreamId": "17302|590651", "text": "Very early onset inflammatory bowel disease" }, { - "baseId": "17307|17308|17308|17309|17310|17311|17312|17313|17314|17315|17316|17317|17319|17319|17320|17320|17321|39692|39695|165484|196292|198602|213787|213788|213789|213790|213791|244137|244147|244148|244149|244150|244188|439809|513488|513489|556900|624971|789828|789829|789830|789831|789834|789835|921527|966391|977168", + "upstreamId": "17307|17308|17308|17309|17310|17311|17312|17313|17314|17315|17316|17317|17319|17319|17320|17320|17321|39692|39695|165484|196292|198602|213787|213788|213789|213790|213791|244137|244147|244148|244149|244150|244188|439809|513488|513489|556900|624971|789828|789829|789830|789831|789834|789835|921527|966391|977168", "text": "Charcot-Marie-Tooth disease, type 2A2A" }, { - "baseId": "17308|17319|17319|17320|39691|39693|39694|39695|244148|439809|539959|540436|540437|578360|798912", + "upstreamId": "17308|17319|17319|17320|39691|39693|39694|39695|244148|439809|539959|540436|540437|578360|798912", "text": "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B" }, { - "baseId": "17308|17315|17316|17317|17318|17319|17320|17320|17321|39695|141913|141914|141915|141917|141918|141920|141921|141922|141923|190878|191572|196028|196292|210581|210582|210589|210590|210597|210602|210603|210605|212071|221079|238137|244186|276217|276218|276219|276220|276223|276224|276238|276239|276240|276245|276253|276260|276268|276269|276473|276475|276482|276485|276487|276488|276860|276879|276884|276885|276886|276889|276898|276899|276903|276905|276906|276907|276908|276951|276952|276953|276954|276965|276969|276970|276977|276978|276992|277008|277039|359204|364342|364422|430974|439809|481414|497999|515038|862127|862128|862129|862130|862131|862132|862133|862134|862135|862136|862137|862138|862139|862140|862141|862142|862143|862144|862145|862146|862147|862148|864970|864971|864972|918549", + "upstreamId": "17308|17315|17316|17317|17318|17319|17320|17320|17321|39695|141913|141914|141915|141917|141918|141920|141921|141922|141923|190878|191572|196028|196292|210581|210582|210589|210590|210597|210602|210603|210605|212071|221079|238137|244186|276217|276218|276219|276220|276223|276224|276238|276239|276240|276245|276253|276260|276268|276269|276473|276475|276482|276485|276487|276488|276860|276879|276884|276885|276886|276889|276898|276899|276903|276905|276906|276907|276908|276951|276952|276953|276954|276965|276969|276970|276977|276978|276992|277008|277039|359204|364342|364422|430974|439809|481414|497999|515038|862127|862128|862129|862130|862131|862132|862133|862134|862135|862136|862137|862138|862139|862140|862141|862142|862143|862144|862145|862146|862147|862148|864970|864971|864972|918549", "text": "Hereditary motor and sensory neuropathy with optic atrophy" }, { - "baseId": "17319", + "upstreamId": "17319", "text": "MFN2-Related Disorders" }, { - "baseId": "17322|39686|39687|82413|102399|102401|135471|135472|135473|135474|135475|135476|142505|142506|142507|142509|142510|142511|177978|178388|181292|195041|195782|196078|196080|202684|202685|202686|202688|202689|202690|202693|202696|202697|202699|202704|202706|202707|202708|241552|241553|244138|265444|269130|317066|317070|317084|324780|324811|324820|330902|330914|360943|373027|373033|373035|373037|373251|375109|375126|398985|399142|399143|399456|399457|408653|444995|444996|462162|462164|462171|462174|462445|462449|462452|462455|462459|462950|462957|462966|463087|463095|463097|463101|491613|493645|504424|527150|527157|527172|527178|527418|527428|527436|527664|527666|527669|527688|527693|527695|527697|565465|565474|565476|566287|566835|566836|568043|568044|568050|571851|579810|579820|641127|641128|641129|641130|641131|641132|652323|687989|687990|687991|687993|769115|793423|839904|839905|839906|839907|839908|839909|839910|839911|839912|839913|839914|839915|839916|839917|839918|839919|839920|839921|839922|839923|839924|839925|839926|926623|926624|926625|926626|926627|926628|926629|926630|936113|936114|936115|936116|936117|936118|936119|936120|936121|936122|948013|948014|948015|948016|948017|948018|948019|956868|956869|956870|956871|970960", + "upstreamId": "17322|39686|39687|82413|102399|102401|135471|135472|135473|135474|135475|135476|142505|142506|142507|142509|142510|142511|177978|178388|181292|195041|195782|196078|196080|202684|202685|202686|202688|202689|202690|202693|202696|202697|202699|202704|202706|202707|202708|241552|241553|244138|265444|269130|317066|317070|317084|324780|324811|324820|330902|330914|360943|373027|373033|373035|373037|373251|375109|375126|398985|399142|399143|399456|399457|408653|444995|444996|462162|462164|462171|462174|462445|462449|462452|462455|462459|462950|462957|462966|463087|463095|463097|463101|491613|493645|504424|527150|527157|527172|527178|527418|527428|527436|527664|527666|527669|527688|527693|527695|527697|565465|565474|565476|566287|566835|566836|568043|568044|568050|571851|579810|579820|641127|641128|641129|641130|641131|641132|652323|687989|687990|687991|687993|769115|793423|839904|839905|839906|839907|839908|839909|839910|839911|839912|839913|839914|839915|839916|839917|839918|839919|839920|839921|839922|839923|839924|839925|839926|926623|926624|926625|926626|926627|926628|926629|926630|936113|936114|936115|936116|936117|936118|936119|936120|936121|936122|948013|948014|948015|948016|948017|948018|948019|956868|956869|956870|956871|970960", "text": "Progressive myoclonus epilepsy with ataxia" }, { - "baseId": 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+ "upstreamId": 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"text": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2" }, { - "baseId": 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+ "upstreamId": 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"text": "Amyotrophic lateral sclerosis type 4" }, { - "baseId": 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+ "upstreamId": 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"text": "Distal spinal muscular atrophy" }, { - "baseId": 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+ "upstreamId": 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"text": "Glycogen storage disease, type V" }, { - "baseId": "17354|17355", + "upstreamId": "17354|17355", "text": "McArdle disease, mild" }, { - "baseId": "17356|17357|17358|17359|17360|17361|39682|140940|140941|140942|140943|211889|211890|211891|211892|211893|211894|211895|257139|333729|333732|333733|333736|343706|349053|349054|349055|349058|349945|349947|349948|361262|376595|424283|426319|430239|430240|471010|481376|481377|487822|487823|496113|496114|496115|496116|496117|496118|496119|496120|496121|496122|496123|496124|496125|496126|496127|496128|506854|533188|550091|570844|573182|590458|609188|620641|648171|648172|652951|694465|694466|716506|716507|745414|757092|772735|772736|786219|821262|821263|882108|882109|882110|882111|882112|882113|882904|904213|938726|938727|950819|958653|958654|960293|979986", + "upstreamId": "17356|17357|17358|17359|17360|17361|39682|140940|140941|140942|140943|211889|211890|211891|211892|211893|211894|211895|257139|333729|333732|333733|333736|343706|349053|349054|349055|349058|349945|349947|349948|361262|376595|424283|426319|430239|430240|471010|481376|481377|487822|487823|496113|496114|496115|496116|496117|496118|496119|496120|496121|496122|496123|496124|496125|496126|496127|496128|506854|533188|550091|570844|573182|590458|609188|620641|648171|648172|652951|694465|694466|716506|716507|745414|757092|772735|772736|786219|821262|821263|882108|882109|882110|882111|882112|882113|882904|904213|938726|938727|950819|958653|958654|960293|979986", "text": "Ethylmalonic encephalopathy" }, { - "baseId": 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"text": "Emery-Dreifuss muscular dystrophy 5, autosomal dominant" }, { - "baseId": 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"text": "Spinocerebellar ataxia, autosomal recessive 8" }, { - "baseId": 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"text": "Emery-Dreifuss muscular dystrophy 4, autosomal dominant" }, { - "baseId": "17374|264275|268173|268749|623618|793124|970824|970825", + "upstreamId": "17374|264275|268173|268749|623618|793124|970824|970825", "text": "Arthrogryposis multiplex congenita 3, myogenic type" }, { - "baseId": "17375|17376|17378|17379|208176|255174|271609|360186|429647|434646|445312|464206|464208|528771|528774|528821|567014|568742|568753|568758|643156|643157|643158|643159|643160|693669|703156|739579|804914|816478|842289|842290|842291|842292|936915|936916|948871|957407|957408|957409|971014", + "upstreamId": "17375|17376|17378|17379|208176|255174|271609|360186|429647|434646|445312|464206|464208|528771|528774|528821|567014|568742|568753|568758|643156|643157|643158|643159|643160|693669|703156|739579|804914|816478|842289|842290|842291|842292|936915|936916|948871|957407|957408|957409|971014", "text": "Ehlers-Danlos syndrome, musculocontractural type" }, { - "baseId": "17375|17376|17378|17379|17380|17381|33460|65663|439521", + "upstreamId": "17375|17376|17378|17379|17380|17381|33460|65663|439521", "text": "Ehlers-Danlos syndrome, musculocontractural type 1" }, { - "baseId": "17382|141885|141886|192552|200012|200013|287138|287143|290398|290404|290408|290707|290710|630415|630416|630417|733547|781432|819268|885404|885405|885406|885407|885408|887390", + "upstreamId": "17382|141885|141886|192552|200012|200013|287138|287143|290398|290404|290408|290707|290710|630415|630416|630417|733547|781432|819268|885404|885405|885406|885407|885408|887390", "text": "Methylmalonyl-CoA epimerase deficiency" }, { - "baseId": 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+ "upstreamId": 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"text": "Nephrotic syndrome, type 3" }, { - "baseId": 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"text": "Usher syndrome, type 2A" }, { - "baseId": 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"text": "Retinitis pigmentosa 39" }, { - "baseId": "17390|17390|17392|17394|17395|17396|17398|19965|19966|20180|20182|21837|24190|26891|27182|39679|52339|52355|52388|52393|52462|52468|52495|52505|55179|55241|55481|55539|57509|57514|57557|57571|57579|57621|57626|57630|57643|57659|57665|57671|57683|57697|57706|57743|57754|57759|57766|57773|57777|57788|84447|137049|172375|172388|172390|172520|172526|172740|172743|172882|172902|172905|172906|172913|175222|175253|175286|175524|176880|176888|178187|178248|178280|193260|194583|194608|194671|195093|195527|226519|226532|228240|228299|228311|228321|229846|229854|230249|231427|237980|259652|260777|266055|266381|405046|408481|421203|425880|431571|431572|431573|431579|431580|431582|431584|431586|431590|431599|431603|431604|431606|431608|431609|431684|431685|431686|431687|431752|431753|431760|431761|431762|431763|431764|431765|431766|431767|431768|431869|431870|431879|431881|488838|489150|494952|494953|494954|494979|496182|540920|541060|541096|546425|551533|551534|576301|612044|620779|622995|624027|654597|655061|918364|918488|969547", + "upstreamId": "17390|17390|17392|17394|17395|17396|17398|19965|19966|20180|20182|21837|24190|26891|27182|39679|52339|52355|52388|52393|52462|52468|52495|52505|55179|55241|55481|55539|57509|57514|57557|57571|57579|57621|57626|57630|57643|57659|57665|57671|57683|57697|57706|57743|57754|57759|57766|57773|57777|57788|84447|137049|172375|172388|172390|172520|172526|172740|172743|172882|172902|172905|172906|172913|175222|175253|175286|175524|176880|176888|178187|178248|178280|193260|194583|194608|194671|195093|195527|226519|226532|228240|228299|228311|228321|229846|229854|230249|231427|237980|259652|260777|266055|266381|405046|408481|421203|425880|431571|431572|431573|431579|431580|431582|431584|431586|431590|431599|431603|431604|431606|431608|431609|431684|431685|431686|431687|431752|431753|431760|431761|431762|431763|431764|431765|431766|431767|431768|431869|431870|431879|431881|488838|489150|494952|494953|494954|494979|496182|540920|541060|541096|546425|551533|551534|576301|612044|620779|622995|624027|654597|655061|918364|918488|969547", "text": "Usher syndrome" }, { - "baseId": "17390|31371|48304|67621|205216|223281|223282|263195|263212|263223|263228|263237|263243|263265|263382|393365|395696|513960|513988|514121|514166|514198|519149|540141|590036|590057|590081|590097", + "upstreamId": "17390|31371|48304|67621|205216|223281|223282|263195|263212|263223|263228|263237|263243|263265|263382|393365|395696|513960|513988|514121|514166|514198|519149|540141|590036|590057|590081|590097", "text": "13 conditions" }, { - "baseId": "17390|18588|20649|20771|22927|22933|22940|24189|24190|24396|28206|31971|32680|76340|98777|102552|104588|104593|104952|104995|105071|105135|105177|105181|105317|105337|105394|105402|105625|105653|105777|237685|259643|287942|321026|417082|431558|431618|431622|431630|431635|431693|431694|431716|431804|431818|431833|439631|439632|488680|513915|513929|513951|514169|528800|544286|551545|551549|623817|623848|623849|623852|623871|623877|623961|623972|624042|794253|794257|794258|794259|794260", + "upstreamId": "17390|18588|20649|20771|22927|22933|22940|24189|24190|24396|28206|31971|32680|76340|98777|102552|104588|104593|104952|104995|105071|105135|105177|105181|105317|105337|105394|105402|105625|105653|105777|237685|259643|287942|321026|417082|431558|431618|431622|431630|431635|431693|431694|431716|431804|431818|431833|439631|439632|488680|513915|513929|513951|514169|528800|544286|551545|551549|623817|623848|623849|623852|623871|623877|623961|623972|624042|794253|794257|794258|794259|794260", "text": "Macular dystrophy" }, { - "baseId": "17390|20883|26654|26656|40161|227365|271052|274282|431612|431625|431682|431683|431739|431779|431780|431781|431782|431783|431784|431829|431832|431837|431840|431841|431842|431843|431844|431845|431846|431847|431848|434600|497708|584920|613267|623838|623880|623949|623969|623970|798325|800589|800590|800643|800644|800645|800646|800647|800648|800654|800655|800656|800657|800658|800659|800660|800706|801496", + "upstreamId": "17390|20883|26654|26656|40161|227365|271052|274282|431612|431625|431682|431683|431739|431779|431780|431781|431782|431783|431784|431829|431832|431837|431840|431841|431842|431843|431844|431845|431846|431847|431848|434600|497708|584920|613267|623838|623880|623949|623969|623970|798325|800589|800590|800643|800644|800645|800646|800647|800648|800654|800655|800656|800657|800658|800659|800660|800706|801496", "text": "Congenital stationary night blindness" }, { - "baseId": "17390|17392|17395|17398|57638|57665|57706|626104|861589", + "upstreamId": "17390|17392|17395|17398|57638|57665|57706|626104|861589", "text": "USH2A-Related Disorders" }, { - "baseId": "17396|19890|29315|32041|32043|32043|32043|32044|32045|32048|32049|32053|32055|32055|32062|32068|32071|34239|38617|53902|53904|53907|53909|53916|53930|57649|67271|76712|168624|169009|169010|169011|169012|169013|169014|181454|191764|223747|247054|263239|268648|354284|354286|354286|354287|354287|354288|354295|360840|360860|360885|360886|360906|361056|361392|362144|362151|406053|492270|513923|513952|513977|514006|514113|514116|514152|514154|514168|581871|581872|581873|581874|581875|581876|581877|581878|581879|581880|581881|610530|610531|624879|800396|800402|800403|800404|800413|801081|966399|983303", + "upstreamId": "17396|19890|29315|32041|32043|32043|32043|32044|32045|32048|32049|32053|32055|32055|32062|32068|32071|34239|38617|53902|53904|53907|53909|53916|53930|57649|67271|76712|168624|169009|169010|169011|169012|169013|169014|181454|191764|223747|247054|263239|268648|354284|354286|354286|354287|354287|354288|354295|360840|360860|360885|360886|360906|361056|361392|362144|362151|406053|492270|513923|513952|513977|514006|514113|514116|514152|514154|514168|581871|581872|581873|581874|581875|581876|581877|581878|581879|581880|581881|610530|610531|624879|800396|800402|800403|800404|800413|801081|966399|983303", "text": "Hearing impairment" }, { - "baseId": "17396|226957|230000|263404|359493|360808|360866|429949|513936|514071|514072|553143", + "upstreamId": "17396|226957|230000|263404|359493|360808|360866|429949|513936|514071|514072|553143", "text": "Congenital sensorineural hearing impairment" }, { - "baseId": "17396|17397|17400|39679|55440|55455|55569|57552|57754|57788|86942|152897|172522|228337|228349|361628|413262|413264|413271|413273|413306|437845|540912|540961|541105|541109|683137|683138|800429|800431|800433|800435|800436|800440|800441|800442|800506|800507|801277|801279|801281|801284|801286|801291|801294|801296|801298|801299|801302|801304|801305|801306|801307|801382|801383|801423|801424|801425|801426|801430|801431", + "upstreamId": "17396|17397|17400|39679|55440|55455|55569|57552|57754|57788|86942|152897|172522|228337|228349|361628|413262|413264|413271|413273|413306|437845|540912|540961|541105|541109|683137|683138|800429|800431|800433|800435|800436|800440|800441|800442|800506|800507|801277|801279|801281|801284|801286|801291|801294|801296|801298|801299|801302|801304|801305|801306|801307|801382|801383|801423|801424|801425|801426|801430|801431", "text": "Usher syndrome type 2" }, { - "baseId": "17397|104561|513994", + "upstreamId": "17397|104561|513994", "text": "Pigmentary retinopathy" }, { - "baseId": "17397|22918|105002", + "upstreamId": "17397|22918|105002", "text": "Abnormal macular morphology" }, { - "baseId": "17397|200983|200986|297377|370448|404617|418811|418812|431877|513934|513935|513966|623968|681597|800988|818725|858652|965405", + "upstreamId": "17397|200983|200986|297377|370448|404617|418811|418812|431877|513934|513935|513966|623968|681597|800988|818725|858652|965405", "text": "Rod-cone dystrophy" }, { - "baseId": "17397|17403|415139|513916|513929", + "upstreamId": "17397|17403|415139|513916|513929", "text": "Retinal pigment epithelial atrophy" }, { - "baseId": "17402", + "upstreamId": "17402", "text": "Autism 16" }, { - "baseId": "17403|96868|96869|96870|176946|177209|177577|177578|190683|190684|195274|238003|250437|250438|264085|286043|286044|286056|366713|431648|431649|431650|512892|513022|513023|513915|513916|541791|629180|707887|719468|747105|762720|781090|787254|790135|799268|799269|818180|825451|825453|825460|850821|952849|952851|977657|977658|977659|977660|977661", + "upstreamId": "17403|96868|96869|96870|176946|177209|177577|177578|190683|190684|195274|238003|250437|250438|264085|286043|286044|286056|366713|431648|431649|431650|512892|513022|513023|513915|513916|541791|629180|707887|719468|747105|762720|781090|787254|790135|799268|799269|818180|825451|825453|825460|850821|952849|952851|977657|977658|977659|977660|977661", "text": "Retinitis pigmentosa 26" }, { - "baseId": "17403|22923|24220|24394|24396|24949|28222|102019|104480|105365|106482|152960|177450|191956|252354|259677|268269|300123|300126|300134|300137|302858|302861|302865|302867|302869|302871|307243|307263|307275|307276|307289|307471|307480|307508|307515|307521|307522|361572|420007|431645|431646|431657|431757|431800|431854|431867|432018|513916|551590|612235|612240|800561|801316|801318|801321|801338|801347|801349|801388|801415|801416|801417|801439|801455", + "upstreamId": "17403|22923|24220|24394|24396|24949|28222|102019|104480|105365|106482|152960|177450|191956|252354|259677|268269|300123|300126|300134|300137|302858|302861|302865|302867|302869|302871|307243|307263|307275|307276|307289|307471|307480|307508|307515|307521|307522|361572|420007|431645|431646|431657|431757|431800|431854|431867|432018|513916|551590|612235|612240|800561|801316|801318|801321|801338|801347|801349|801388|801415|801416|801417|801439|801455", "text": "Cone dystrophy" }, { - "baseId": "17404|17405|17406|17407|17408|17409|17410|17411|17412|212072|212073|212074|221080|221081|221082|276270|276275|276281|276285|276515|276516|276518|276519|276528|276915|276918|276939|276940|276941|277040|277055|277058|277067|277068|390720|447268|514856|515059|515153|535732|550878|556484|556487|581864|626777|626778|626779|626780|862149|862150|862151|862152|862153|862154|862155|862156|862157|862158|862159|862160|862161|862162|862163|862164|862165|862166|862167", + "upstreamId": "17404|17405|17406|17407|17408|17409|17410|17411|17412|212072|212073|212074|221080|221081|221082|276270|276275|276281|276285|276515|276516|276518|276519|276528|276915|276918|276939|276940|276941|277040|277055|277058|277067|277068|390720|447268|514856|515059|515153|535732|550878|556484|556487|581864|626777|626778|626779|626780|862149|862150|862151|862152|862153|862154|862155|862156|862157|862158|862159|862160|862161|862162|862163|862164|862165|862166|862167", "text": "Hemochromatosis type 2A" }, { - "baseId": "17413|433676|433677|433678|700819|700821|723348|789745|789746|799580", + "upstreamId": "17413|433676|433677|433678|700819|700821|723348|789745|789746|799580", "text": "Agammaglobulinemia 5, autosomal dominant" }, { - "baseId": "17414|17416|17417|17418|17419|17420|17421|17422|99244|99245|99248|99249|99251|99252|99258|99259|99260|99262|99266|99268|99269|99273|99276|99279|99282|99292|99295|99297|195594|225801|333630|349906|426317|648139|694431|728206|728207|741915|741916|741918|741919|772710|772711|772713|786202|786206|979983|979984|979985", + "upstreamId": "17414|17416|17417|17418|17419|17420|17421|17422|99244|99245|99248|99249|99251|99252|99258|99259|99260|99262|99266|99268|99269|99273|99276|99279|99282|99292|99295|99297|195594|225801|333630|349906|426317|648139|694431|728206|728207|741915|741916|741918|741919|772710|772711|772713|786202|786206|979983|979984|979985", "text": "Maple syrup urine disease type 1A" }, { - "baseId": 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+ "upstreamId": 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"text": "Maple syrup urine disease" }, { - "baseId": "17416|17417", + "upstreamId": "17416|17417", "text": "MAPLE SYRUP URINE DISEASE, INTERMEDIATE, TYPE IA" }, { - "baseId": "17425|17426|17427|17428|17429|17430|17431|17432|17433|17434|17435|17436|140122|200106|298991|298995|301405|305774|305790|305791|305796|305801|306021|306022|406814|406816|406817|455277|501451|501540|501825|521434|521768|543611|543614|543616|543619|543916|543918|543919|543920|543922|543924|543925|543926|543927|543928|543929|543931|543932|543933|543935|543936|544003|544010|544011|544013|544020|544022|544028|544030|560461|560463|560598|563388|565433|620213|634617|634618|634619|634620|651480|686799|686800|686801|691939|721718|744263|749814|759629|782451|790585|790586|790587|831554|831555|831556|831557|831558|852008|895322|895323|895324|895325|895326|904751|944886|954369|954370|980327", + "upstreamId": "17425|17426|17427|17428|17429|17430|17431|17432|17433|17434|17435|17436|140122|200106|298991|298995|301405|305774|305790|305791|305796|305801|306021|306022|406814|406816|406817|455277|501451|501540|501825|521434|521768|543611|543614|543616|543619|543916|543918|543919|543920|543922|543924|543925|543926|543927|543928|543929|543931|543932|543933|543935|543936|544003|544010|544011|544013|544020|544022|544028|544030|560461|560463|560598|563388|565433|620213|634617|634618|634619|634620|651480|686799|686800|686801|691939|721718|744263|749814|759629|782451|790585|790586|790587|831554|831555|831556|831557|831558|852008|895322|895323|895324|895325|895326|904751|944886|954369|954370|980327", "text": "Arginase deficiency" }, { - "baseId": 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+ "upstreamId": "17437|17438|17439|17440|17441|17442|34105|34106|98269|98270|98271|98272|98273|98274|98275|98276|140125|177119|195545|200146|200147|200148|200149|200150|200152|200153|200154|200158|200161|226851|226852|226853|226854|226855|226856|226857|226858|226859|226860|226862|228216|252905|273007|303265|303267|303271|303274|306584|306585|306587|306589|306604|306609|306611|311483|311653|359828|369259|369262|369902|371309|371324|371334|415107|415108|457529|457530|457535|457536|487358|502452|522780|523035|523038|523226|523229|523230|544227|544230|544232|544237|544239|544245|544253|544263|544289|544526|544532|544534|544541|544564|544566|544567|544568|544572|544576|544578|544580|544581|544587|544588|544590|544591|544593|544595|544598|544624|544625|544629|544631|544632|544634|544640|544645|544647|544653|544657|544658|561725|562137|564395|636307|636308|636309|636310|636311|636312|651642|651694|651728|651729|651759|679756|692266|692267|692268|692269|692270|692271|695368|722609|722610|736220|736221|736222|744307|750721|766350|766351|766352|766356|775274|775403|779435|782905|782907|782908|782911|819905|819908|819909|819910|819911|821948|833799|833800|833801|833802|833803|833804|833805|833806|833807|851652|898300|898301|898302|898303|898304|898305|898306|898307|898308|898309|898310|898311|898312|898313|898314|900387|921466|933978|940083|945748|945749|955204|955205|955206|959508|972003|972004|972005|972006|972007|972008|978398|978399|978400|978401", "text": "Argininosuccinate lyase deficiency" }, { - "baseId": "17443|17444|17445|17446|17447|17448|17449|17450|17451|17452|17453|17454|17456|24734|24744|181392|187107|249676|249677|249678|270627|271018|273199|273569|278529|278531|278532|278534|278541|278542|278543|278550|278551|278559|278643|278644|278645|278656|278657|278658|278672|278676|278678|279796|279797|279798|279803|279809|279812|279953|279962|279965|279966|279967|361485|361486|425331|439180|440432|440434|447474|447721|485989|491572|515409|515514|556768|609368|619985|619986|619987|619988|627313|627314|627315|627316|627317|690471|690472|690473|690474|690475|690476|707026|718571|718573|794551|823272|823273|863341|863342|863343|863344|863345|863346|863347|863348|863349|863350|863351|863352|863353|863354|863355|863356|863357|863358|863359|863360|863361|863362|863363|863364|863365|863366|865097|865098|918593|930252|939792|952221|959540", + "upstreamId": "17443|17444|17445|17446|17447|17448|17449|17450|17451|17452|17453|17454|17456|24734|24744|181392|187107|249676|249677|249678|270627|271018|273199|273569|278529|278531|278532|278534|278541|278542|278543|278550|278551|278559|278643|278644|278645|278656|278657|278658|278672|278676|278678|279796|279797|279798|279803|279809|279812|279953|279962|279965|279966|279967|361485|361486|425331|439180|440432|440434|447474|447721|485989|491572|515409|515514|556768|609368|619985|619986|619987|619988|627313|627314|627315|627316|627317|690471|690472|690473|690474|690475|690476|707026|718571|718573|794551|823272|823273|863341|863342|863343|863344|863345|863346|863347|863348|863349|863350|863351|863352|863353|863354|863355|863356|863357|863358|863359|863360|863361|863362|863363|863364|863365|863366|865097|865098|918593|930252|939792|952221|959540", "text": "Parkinson disease 6, autosomal recessive early-onset" }, { - "baseId": "17455", + "upstreamId": "17455", "text": "Parkinson disease 6" }, { - "baseId": "17456|22108", + "upstreamId": "17456|22108", "text": "Parkinson disease, autosomal recessive early-onset, digenic, PINK1/DJ1" }, { - "baseId": "17457|17458|17459|17460|17461|17463|17464|17465|39677|111328|134297|134298|134299|134300|134301|140726|140727|140728|140729|172198|194135|194135|199986|199987|199988|199989|199990|199993|206940|236961|237339|237339|250535|250537|250540|250541|264072|265568|284536|284537|284541|284542|284547|284558|284559|284560|284562|284567|284568|284577|284578|285222|285223|285225|285232|285233|285239|285240|285242|285243|285245|285250|285254|285255|285258|287384|287386|287393|287394|287416|287418|287419|287420|287422|287425|287437|287441|287446|287448|287449|287644|287646|287647|287651|287656|287657|287658|287659|366120|366130|366283|366284|366285|366293|366344|366346|366939|366960|404756|405557|421361|443154|443155|450313|450317|450452|450459|450461|450502|450507|450597|481357|486956|499515|499901|499959|499964|517704|517734|517880|541668|541670|541672|541674|541676|541678|541681|541686|541691|541693|541698|541700|541702|541704|541705|541712|541713|541716|541724|541725|541734|541735|541741|541745|541747|541748|541752|541756|541758|541760|541763|541764|541765|541769|541770|541772|541773|541776|541779|541784|541785|541787|541788|541788|541792|541793|541795|541796|541797|541799|541806|541807|541814|541816|541818|541820|541822|541824|541825|541828|541829|541830|541833|541835|541836|541840|541844|541847|541848|541849|541852|541854|541862|541863|541866|541868|541875|541877|541887|557834|557889|557891|559069|560809|560811|560815|560817|560817|560821|560823|620056|620739|620740|621108|629352|629353|629354|629355|629356|629357|629358|629359|650910|650917|650945|650950|655413|655414|655415|655416|658873|686141|691022|691023|691024|691025|691026|707996|719576|719577|743846|743850|747239|747240|747241|759015|759194|762847|762849|762850|762852|762853|762854|762856|762857|774652|781139|787093|790165|790166|790167|790168|790169|790170|790171|819106|825644|825645|825646|825647|825648|825649|825650|825651|825652|825653|825654|825655|825656|825657|825658|825659|825660|850831|861617|861618|883641|883642|883643|883644|883645|883646|883647|883648|883649|883650|883651|883652|883653|883654|883655|883656|883657|883658|883659|883660|883661|883662|883663|883664|883665|883666|883667|883668|883669|883670|887257|887258|887259|887260|887261|906067|916858|922541|922542|931103|931104|931105|931106|931107|939873|942576|942577|942578|942579|942580|952896|952897|952898|952899|952900|952901|952902|952903|952904|952905|952906|952907|952908|952909|971709|971710|971711|971712|971713|971714|971715|971716|971717|971718|971719|971720|971721|971722|971723|971724|971725|971726|971727|971728|971729|971730|971731|971732|971733|971734", + "upstreamId": "17457|17458|17459|17460|17461|17463|17464|17465|39677|111328|134297|134298|134299|134300|134301|140726|140727|140728|140729|172198|194135|194135|199986|199987|199988|199989|199990|199993|206940|236961|237339|237339|250535|250537|250540|250541|264072|265568|284536|284537|284541|284542|284547|284558|284559|284560|284562|284567|284568|284577|284578|285222|285223|285225|285232|285233|285239|285240|285242|285243|285245|285250|285254|285255|285258|287384|287386|287393|287394|287416|287418|287419|287420|287422|287425|287437|287441|287446|287448|287449|287644|287646|287647|287651|287656|287657|287658|287659|366120|366130|366283|366284|366285|366293|366344|366346|366939|366960|404756|405557|421361|443154|443155|450313|450317|450452|450459|450461|450502|450507|450597|481357|486956|499515|499901|499959|499964|517704|517734|517880|541668|541670|541672|541674|541676|541678|541681|541686|541691|541693|541698|541700|541702|541704|541705|541712|541713|541716|541724|541725|541734|541735|541741|541745|541747|541748|541752|541756|541758|541760|541763|541764|541765|541769|541770|541772|541773|541776|541779|541784|541785|541787|541788|541788|541792|541793|541795|541796|541797|541799|541806|541807|541814|541816|541818|541820|541822|541824|541825|541828|541829|541830|541833|541835|541836|541840|541844|541847|541848|541849|541852|541854|541862|541863|541866|541868|541875|541877|541887|557834|557889|557891|559069|560809|560811|560815|560817|560817|560821|560823|620056|620739|620740|621108|629352|629353|629354|629355|629356|629357|629358|629359|650910|650917|650945|650950|655413|655414|655415|655416|658873|686141|691022|691023|691024|691025|691026|707996|719576|719577|743846|743850|747239|747240|747241|759015|759194|762847|762849|762850|762852|762853|762854|762856|762857|774652|781139|787093|790165|790166|790167|790168|790169|790170|790171|819106|825644|825645|825646|825647|825648|825649|825650|825651|825652|825653|825654|825655|825656|825657|825658|825659|825660|850831|861617|861618|883641|883642|883643|883644|883645|883646|883647|883648|883649|883650|883651|883652|883653|883654|883655|883656|883657|883658|883659|883660|883661|883662|883663|883664|883665|883666|883667|883668|883669|883670|887257|887258|887259|887260|887261|906067|916858|922541|922542|931103|931104|931105|931106|931107|939873|942576|942577|942578|942579|942580|952896|952897|952898|952899|952900|952901|952902|952903|952904|952905|952906|952907|952908|952909|971709|971710|971711|971712|971713|971714|971715|971716|971717|971718|971719|971720|971721|971722|971723|971724|971725|971726|971727|971728|971729|971730|971731|971732|971733|971734", "text": "Congenital hyperammonemia, type I" }, { - "baseId": "17462", + "upstreamId": "17462", "text": "CARBAMOYL PHOSPHATE SYNTHETASE I POLYMORPHISM" }, { - "baseId": "17462|194135|237339|404756|541788|560817", + "upstreamId": "17462|194135|237339|404756|541788|560817", "text": "Pulmonary hypertension, neonatal, susceptibility to" }, { - "baseId": "17466|17467|17468|17469|17470|17471|17472|17473|200314|200315|256179|256180|256181|328630|328633|328634|328636|338615|338616|344663|344666|344668|344676|364128|375140|376056|376142|376144|378306|410040|415563|506870|531138|531406|571213|574496|581775|612181|646068|646069|646070|653276|715478|727200|727201|740799|740800|740801|740802|740804|771561|785604|785605|785606|785607|785609|785610|845482|845483|845484|845485|877667|877668|877669|877670|877671|877672|877673|877674|877675|877676|877677|877678|920372|928328|928329|949966|949967|958141|960888|979906|979907|979908", + "upstreamId": "17466|17467|17468|17469|17470|17471|17472|17473|200314|200315|256179|256180|256181|328630|328633|328634|328636|338615|338616|344663|344666|344668|344676|364128|375140|376056|376142|376144|378306|410040|415563|506870|531138|531406|571213|574496|581775|612181|646068|646069|646070|653276|715478|727200|727201|740799|740800|740801|740802|740804|771561|785604|785605|785606|785607|785609|785610|845482|845483|845484|845485|877667|877668|877669|877670|877671|877672|877673|877674|877675|877676|877677|877678|920372|928328|928329|949966|949967|958141|960888|979906|979907|979908", "text": "Hyperammonemia, type III" }, { - "baseId": "17475|17476|17477|17478|17479|17480|217277|316957|316961|316980|316981|316983|316984|316986|316987|316988|316992|316994|316995|317001|317002|317009|317013|324575|324576|324579|324599|324605|324606|324609|324610|324611|324616|324622|324623|324626|324629|324630|324635|324636|324637|324657|324658|324662|324663|324676|330780|330781|330785|330787|330788|330796|330804|330805|330815|330819|330825|330827|330828|330829|330833|330838|330845|330846|332181|332199|332201|332206|332217|332227|332228|332229|332231|332235|332242|332244|332256|332257|332274|332276|332281|332292|332293|332300|332313|620440|620441|620848|725083|738626|753346|769102|869741|869742|869743|869744|869745|869746|869747|869748|869749|869750|869751|869752|869753|869754|869755|869756|869757|869758|869759|869760|869761|869762|869763|872233|872234|872235|872236", + "upstreamId": "17475|17476|17477|17478|17479|17480|217277|316957|316961|316980|316981|316983|316984|316986|316987|316988|316992|316994|316995|317001|317002|317009|317013|324575|324576|324579|324599|324605|324606|324609|324610|324611|324616|324622|324623|324626|324629|324630|324635|324636|324637|324657|324658|324662|324663|324676|330780|330781|330785|330787|330788|330796|330804|330805|330815|330819|330825|330827|330828|330829|330833|330838|330845|330846|332181|332199|332201|332206|332217|332227|332228|332229|332231|332235|332242|332244|332256|332257|332274|332276|332281|332292|332293|332300|332313|620440|620441|620848|725083|738626|753346|769102|869741|869742|869743|869744|869745|869746|869747|869748|869749|869750|869751|869752|869753|869754|869755|869756|869757|869758|869759|869760|869761|869762|869763|872233|872234|872235|872236", "text": "Fibrosis of extraocular muscles, congenital, 1" }, { - "baseId": "17475|17476|17481", + "upstreamId": "17475|17476|17481", "text": "Fibrosis of extraocular muscles, congenital, 3b" }, { - "baseId": "17482|17488|17489|17493", + "upstreamId": "17482|17488|17489|17493", "text": "Sialidosis type I" }, { - "baseId": "17483|17484|17485|17486|17487|17490|17491|17492|17494|17495|17496|17497|215038|215039|273412|299753|299758|299759|299762|299763|302344|302345|302346|302349|302360|302367|306753|306760|307067|307077|307078|307085|549604|620225|721957|721958|858593|895745|895746|895747|895748|895749|895750|895751|895752|895753|895754|895755|895756", + "upstreamId": "17483|17484|17485|17486|17487|17490|17491|17492|17494|17495|17496|17497|215038|215039|273412|299753|299758|299759|299762|299763|302344|302345|302346|302349|302360|302367|306753|306760|307067|307077|307078|307085|549604|620225|721957|721958|858593|895745|895746|895747|895748|895749|895750|895751|895752|895753|895754|895755|895756", "text": "Sialidosis type 2" }, { - "baseId": "17498|142739|142740|188493|188498|188500|188501|189321|189322|189323|241058|372002|398399|398509|510255|526012|526421|551780|564446|625808|639736|639737|652157|680063|689998|838019|838020|838021|926133|926134|935403|947333|947334|956397", + "upstreamId": "17498|142739|142740|188493|188498|188500|188501|189321|189322|189323|241058|372002|398399|398509|510255|526012|526421|551780|564446|625808|639736|639737|652157|680063|689998|838019|838020|838021|926133|926134|935403|947333|947334|956397", "text": "Long QT syndrome 10" }, { - "baseId": "17499|77865", + "upstreamId": "17499|77865", "text": "Woolly hair, autosomal dominant" }, { - "baseId": "17500|17501|17502|17503|17504|17505|17506|17507|98216|98217|133725|133726|133727|140010|140011|140012|140013|140014|177473|190709|192169|194780|196141|203836|203839|203840|203841|203843|203845|203846|203851|203852|203853|203854|203856|203858|203859|203860|203863|203864|205025|215599|237095|243715|257684|265993|267588|267768|273616|274158|338124|338129|338130|347772|351611|352562|352563|377512|377516|377521|377536|378728|378730|378732|378797|378815|379856|379857|403985|411019|411020|426378|446422|470306|470309|471148|471151|471313|471596|471597|471978|534340|534344|534345|534352|534355|534362|534477|534836|534839|572000|572004|573411|574139|574140|575272|575273|614493|614494|649513|649514|649515|649516|649517|649518|649519|649520|649521|649522|649523|649524|649525|649526|653724|653725|684922|731424|788093|792070|792071|798771|821461|821462|821463|821464|849362|849363|849364|849365|849366|849367|849368|849369|849370|849371|849372|849373|851928|852940|891310|891311|891312|891313|891314|891838|891839|891840|929490|929491|929492|929493|929494|929495|939319|939320|939321|939322|939323|940534|951481|951482|951483|951484|951485|951486|959100|960968|971161", + "upstreamId": "17500|17501|17502|17503|17504|17505|17506|17507|98216|98217|133725|133726|133727|140010|140011|140012|140013|140014|177473|190709|192169|194780|196141|203836|203839|203840|203841|203843|203845|203846|203851|203852|203853|203854|203856|203858|203859|203860|203863|203864|205025|215599|237095|243715|257684|265993|267588|267768|273616|274158|338124|338129|338130|347772|351611|352562|352563|377512|377516|377521|377536|378728|378730|378732|378797|378815|379856|379857|403985|411019|411020|426378|446422|470306|470309|471148|471151|471313|471596|471597|471978|534340|534344|534345|534352|534355|534362|534477|534836|534839|572000|572004|573411|574139|574140|575272|575273|614493|614494|649513|649514|649515|649516|649517|649518|649519|649520|649521|649522|649523|649524|649525|649526|653724|653725|684922|731424|788093|792070|792071|798771|821461|821462|821463|821464|849362|849363|849364|849365|849366|849367|849368|849369|849370|849371|849372|849373|851928|852940|891310|891311|891312|891313|891314|891838|891839|891840|929490|929491|929492|929493|929494|929495|939319|939320|939321|939322|939323|940534|951481|951482|951483|951484|951485|951486|959100|960968|971161", "text": "Adenylosuccinate lyase deficiency" }, { - "baseId": "17508|39810|39811|39812|207737|207738|207740|253721|253722|253723|253724|253725|253726|253727|253728|253729|253732|253734|253736|253737|253738|253739|253740|253741|310109|310113|310115|310124|310125|310136|310137|310139|310141|310144|310145|310150|310153|310154|310162|315192|315197|315198|315207|315226|315227|315247|315248|315254|315266|315267|321220|321230|321255|321261|321263|321266|321274|321278|321279|321283|321284|321294|321777|321778|321780|321782|321788|321795|321816|321830|321831|321832|321850|321851|321869|321880|321899|321904|425871|429053|429057|429060|429061|429062|578483|615436|701301|723897|723898|723899|723900|816472|865761|865762|865763|865764|865765|865766|865767|865768|865769|865770|865771|865772|865773|865774|865775|865776|865777|865778|865779|865780|865781|865782|865783|865784|865785|865786|865787|865788|865789|865790|865791|865792|865793|865794|865795|865796|865797|865798|865799|865800|868466|868467|868468|868469|919266|980938", + "upstreamId": "17508|39810|39811|39812|207737|207738|207740|253721|253722|253723|253724|253725|253726|253727|253728|253729|253732|253734|253736|253737|253738|253739|253740|253741|310109|310113|310115|310124|310125|310136|310137|310139|310141|310144|310145|310150|310153|310154|310162|315192|315197|315198|315207|315226|315227|315247|315248|315254|315266|315267|321220|321230|321255|321261|321263|321266|321274|321278|321279|321283|321284|321294|321777|321778|321780|321782|321788|321795|321816|321830|321831|321832|321850|321851|321869|321880|321899|321904|425871|429053|429057|429060|429061|429062|578483|615436|701301|723897|723898|723899|723900|816472|865761|865762|865763|865764|865765|865766|865767|865768|865769|865770|865771|865772|865773|865774|865775|865776|865777|865778|865779|865780|865781|865782|865783|865784|865785|865786|865787|865788|865789|865790|865791|865792|865793|865794|865795|865796|865797|865798|865799|865800|868466|868467|868468|868469|919266|980938", "text": "Thrombocytopenia 2" }, { - "baseId": "17509|142736|150288|188504|188505|188506|188507|254022|258685|398081|461292|510259|564502|564503|639813|639814|639815|684238|759940|926151|947354", + "upstreamId": "17509|142736|150288|188504|188505|188506|188507|254022|258685|398081|461292|510259|564502|564503|639813|639814|639815|684238|759940|926151|947354", "text": "Brugada syndrome 7" }, { - "baseId": "17509|150289|150290|150291", + "upstreamId": "17509|150289|150290|150291", "text": "Atrial fibrillation, familial, 16" }, { - "baseId": "17510|17511|17511|17512|17513|17514|17515|17516|137943|137944|137946|137947|137950|137951|137953|137954|137954|137955|137956|137957|190929|192606|192607|215653|254166|254170|259984|259986|259987|264541|264544|275005|314033|314037|314039|314040|314042|314043|314045|314046|314050|314053|314054|314055|320503|320506|320508|320511|320512|320524|320525|326459|326466|326473|326483|326487|326491|326492|326493|326495|326496|326500|326501|326502|326504|327488|327489|327492|327506|327507|327508|327525|327527|327529|327531|327544|353189|374068|408349|444802|460433|461215|461611|461620|461621|461927|495713|525675|526206|526210|526215|526390|526396|538422|564095|564626|564631|564633|564633|565025|565765|565770|565774|612092|626205|640051|640052|640053|640054|640055|640056|640057|640058|652126|701764|712825|712826|724437|724438|737972|796573|805692|820367|820368|820369|820370|820371|820372|822306|838422|838423|838424|838425|838426|838427|838428|838429|838430|838431|838432|838433|838434|838435|838436|838437|838438|852350|867933|867934|867935|867936|867937|867938|867939|867940|867941|867942|867943|867944|867945|867946|867947|867948|867949|867950|867951|867952|867953|867954|867955|867956|867957|867958|868648|906203|919362|926239|926240|926241|926242|926243|926244|926245|926246|935533|935534|935535|935536|935537|935538|935539|935540|935541|935542|935543|935544|935545|940213|940997|947454|947455|947456|947457|947458|956494|956495|956496|959988|959989|960751|962988|970935|971619|971620|980556", + "upstreamId": "17510|17511|17511|17512|17513|17514|17515|17516|137943|137944|137946|137947|137950|137951|137953|137954|137954|137955|137956|137957|190929|192606|192607|215653|254166|254170|259984|259986|259987|264541|264544|275005|314033|314037|314039|314040|314042|314043|314045|314046|314050|314053|314054|314055|320503|320506|320508|320511|320512|320524|320525|326459|326466|326473|326483|326487|326491|326492|326493|326495|326496|326500|326501|326502|326504|327488|327489|327492|327506|327507|327508|327525|327527|327529|327531|327544|353189|374068|408349|444802|460433|461215|461611|461620|461621|461927|495713|525675|526206|526210|526215|526390|526396|538422|564095|564626|564631|564633|564633|565025|565765|565770|565774|612092|626205|640051|640052|640053|640054|640055|640056|640057|640058|652126|701764|712825|712826|724437|724438|737972|796573|805692|820367|820368|820369|820370|820371|820372|822306|838422|838423|838424|838425|838426|838427|838428|838429|838430|838431|838432|838433|838434|838435|838436|838437|838438|852350|867933|867934|867935|867936|867937|867938|867939|867940|867941|867942|867943|867944|867945|867946|867947|867948|867949|867950|867951|867952|867953|867954|867955|867956|867957|867958|868648|906203|919362|926239|926240|926241|926242|926243|926244|926245|926246|935533|935534|935535|935536|935537|935538|935539|935540|935541|935542|935543|935544|935545|940213|940997|947454|947455|947456|947457|947458|956494|956495|956496|959988|959989|960751|962988|970935|971619|971620|980556", "text": "Multiple exostoses type 2" }, { - "baseId": "17511|17513|137944|137954|137957|326466|538422|564633|626205|626395|805097", + "upstreamId": "17511|17513|137944|137954|137957|326466|538422|564633|626205|626395|805097", "text": "Seizures, scoliosis, and macrocephaly syndrome" }, { - "baseId": 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+ "upstreamId": 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"text": "Charcot-Marie-Tooth disease, type 4C" }, { - "baseId": 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"text": "Mononeuropathy of the median nerve, mild" }, { - "baseId": "17521|231645|620191|620192", + "upstreamId": "17521|231645|620191|620192", "text": "SH3TC2-Related Disorders" }, { - "baseId": 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+ "upstreamId": "17525|17526|21701|390020|453117|453122|453375|453378|453487|453492|453497|453867|453869|461407|461409|461410|461412|461577|461585|461586|461914|461917|461920|461921|461924|462247|486807|486809|519864|519865|519866|519867|519877|520103|520113|520155|520156|520157|526424|526426|526454|526733|526735|526972|526975|526978|526980|526984|526986|559649|559651|559810|559812|559814|561984|563342|564866|566727|567479|570909|570910|570911|614366|632125|632126|632127|632128|632129|632130|632131|632132|632133|632134|632135|632136|632137|632138|640373|640374|640375|640376|640377|640378|640379|640380|640381|640382|640383|640384|640385|640386|640387|640388|640389|651184|652131|652386|709271|709272|713100|713101|713102|713103|713104|720876|720877|720879|724670|724672|730796|748849|748851|748852|752887|764409|768678|779465|779580|781919|784136|787372|829000|829001|829002|829003|829004|829005|829006|829007|829008|829009|829010|829011|829012|829013|829014|829015|838854|838855|838856|838857|838858|838859|838860|838861|838862|838863|838864|838865|838866|838867|838868|838869|851455|923480|923481|923482|926362|926363|926364|932262|932263|932264|932265|935729|935730|935731|935732|940232|941011|943919|943920|943921|943922|943923|943924|943925|943926|947609|947610|947611|947612|947613|953737|956619|956620|956621", "text": "Herpes simplex encephalitis 1" }, { - "baseId": 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+ "upstreamId": 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"text": "Primary autosomal recessive microcephaly 3" }, { - "baseId": "17529|132593|186205|213137|222431|242092|323041|323046|323047|323048|332653|339619|339635|339640|339641|339645|339646|339651|339659|339666|341010|341018|341019|341025|341026|400788|401074|567216|569033|643456|643457|643458|653063|684550|688463|851629|852065|852602|873955|873956|873957|873958|873959|873960|873961|873962|873963|873964|920347|948958", + "upstreamId": "17529|132593|186205|213137|222431|242092|323041|323046|323047|323048|332653|339619|339635|339640|339641|339645|339646|339651|339659|339666|341010|341018|341019|341025|341026|400788|401074|567216|569033|643456|643457|643458|653063|684550|688463|851629|852065|852602|873955|873956|873957|873958|873959|873960|873961|873962|873963|873964|920347|948958", "text": "Mast syndrome" }, { - "baseId": "17530|333464|333466|333480|333487|333488|333492|333494|333497|333498|333501|333504|333507|333508|333513|343497|343499|343521|343524|343525|343528|343529|343536|343537|343540|343541|343542|343550|343551|343552|343553|343561|343562|343567|343568|343574|343575|343579|343581|343583|343585|343589|343590|343595|348830|348831|348841|348842|348847|348849|348850|348852|348855|348859|348860|348867|348869|348870|348871|349813|349816|349817|349820|349821|349824|349825|349828|349829|349832|349833|349836|349837|508925|716422|716423|728162|731277|731279|756994|779999|880459|880460|880461|880752|881961|881962|881963|881964|881965|881966|881967|881968|881969|881970|881971|881972|881973|881974|881975|881976|881977|881978|881979|881980|881981|881982|881983|881984|881985|881986|881987|881988|881989|881990|881991|881992|881993|881994|881995|881996|881997|881998|881999|882000|882001|882002|882003|882004|882005|882006|882007|882008|882009|882010|882011|882882|882883|882884|882885", + "upstreamId": "17530|333464|333466|333480|333487|333488|333492|333494|333497|333498|333501|333504|333507|333508|333513|343497|343499|343521|343524|343525|343528|343529|343536|343537|343540|343541|343542|343550|343551|343552|343553|343561|343562|343567|343568|343574|343575|343579|343581|343583|343585|343589|343590|343595|348830|348831|348841|348842|348847|348849|348850|348852|348855|348859|348860|348867|348869|348870|348871|349813|349816|349817|349820|349821|349824|349825|349828|349829|349832|349833|349836|349837|508925|716422|716423|728162|731277|731279|756994|779999|880459|880460|880461|880752|881961|881962|881963|881964|881965|881966|881967|881968|881969|881970|881971|881972|881973|881974|881975|881976|881977|881978|881979|881980|881981|881982|881983|881984|881985|881986|881987|881988|881989|881990|881991|881992|881993|881994|881995|881996|881997|881998|881999|882000|882001|882002|882003|882004|882005|882006|882007|882008|882009|882010|882011|882882|882883|882884|882885", "text": "Cerebellar ataxia, Cayman type" }, { - "baseId": "17531|17532|17533|17534|17537|17538|17539|17540|17541|17542|193376|227031|259889|259892|442479|486610|626349|790775|790776", + "upstreamId": "17531|17532|17533|17534|17537|17538|17539|17540|17541|17542|193376|227031|259889|259892|442479|486610|626349|790775|790776", "text": "Multiple exostoses type 1" }, { - "baseId": 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+ "upstreamId": "17534|17537|17539|17540|137936|137939|189033|193376|253019|253021|253022|253025|253026|259888|259889|259890|259892|259893|259895|264357|267038|304056|304061|304074|304076|304082|304083|304087|307646|307648|307650|307652|307655|312690|312691|312694|312700|312702|312704|312706|312708|312718|312800|312813|312814|312815|312822|312823|312834|312836|312845|369682|371474|407298|442479|444204|444205|457175|457181|457792|457804|458170|458176|458178|481799|481801|481803|495227|495365|522969|522976|523252|523255|523454|523456|523468|523472|523515|523597|523599|523605|523611|523612|561912|561914|561920|561922|561927|561934|561939|562339|562347|564592|564596|564600|564605|567304|567333|567348|621280|636560|636561|636562|636563|636564|636565|636566|636567|636568|636569|636570|636571|636572|636573|636574|636575|636576|651736|651738|651739|651749|651757|651769|651841|651844|692342|692343|692344|711249|722811|736408|736409|750888|792536|805558|805562|818382|819939|819940|819941|819942|819943|834067|834068|834069|834070|834071|834072|834073|834074|834075|834076|834077|834078|834079|834080|834081|834082|834083|834084|834085|834086|834087|834088|834089|834090|834091|834092|834093|834094|834095|834096|834097|834098|834099|834100|834101|834102|834103|834104|834105|834106|834107|851171|851173|851175|851177|851668|851670|852412|858616|859645|859647|898774|898775|898776|898777|898778|898779|898780|898781|898782|898783|898784|898785|898786|900435|924988|924989|924990|924991|924992|924993|924994|924995|924996|924997|924998|924999|925000|925001|925002|925003|925004|925005|925006|925007|934071|934072|934073|934074|934075|934076|934077|934078|934079|934080|934081|934082|934083|934084|934085|934086|940091|945827|945828|945829|945830|945831|945832|945833|945834|945835|945836|945837|945838|945839|945840|945841|945842|945843|945844|945845|945846|945847|945848|955281|955282|955283|955284|955285|955286|959874|959875|959876|959877|960641|961025|970129|970872", "text": "Multiple congenital exostosis" }, { - "baseId": "17535|17536|919136|919137|919138", + "upstreamId": "17535|17536|919136|919137|919138", "text": "Chondrosarcoma" }, { - "baseId": "17543|102428|102429|102430|106483|106484|177542|177543|191448|192946|192947|193307|194123|194212|205170|254454|254455|254456|254457|254458|254459|254460|254461|254462|254463|254464|254465|254466|273136|274974|274977|316440|316441|316446|316448|316449|316452|316454|316456|316460|316471|316472|316476|316479|316480|316490|316492|316500|316501|316507|316512|316513|316515|323943|323945|323953|323954|323957|323959|323961|323969|323970|323971|323974|323989|323990|324001|324008|324010|324012|324013|324014|324031|324032|329962|329965|329967|329969|329971|329973|329974|329976|329980|329983|329984|329985|329986|329988|329993|329995|329996|329998|329999|330001|330004|331328|331329|331330|331331|331336|331342|331350|331357|331360|331362|331363|331364|331366|331368|331375|331376|362084|408608|512929|512930|620429|620430|620431|620841|713468|730857|738579|738580|753286|753289|839742|839743|869562|869563|869564|869565|869566|869567|869568|869569|869570|869571|869572|869573|869574|869575|869576|869577|869578|869579|869580|869581|869582|869583|869584|869585|869586|869587|869588|869589|869590|869591|869592|872209|872210|872211|872212|872213|872214|872215|872216|872217|919423", + "upstreamId": "17543|102428|102429|102430|106483|106484|177542|177543|191448|192946|192947|193307|194123|194212|205170|254454|254455|254456|254457|254458|254459|254460|254461|254462|254463|254464|254465|254466|273136|274974|274977|316440|316441|316446|316448|316449|316452|316454|316456|316460|316471|316472|316476|316479|316480|316490|316492|316500|316501|316507|316512|316513|316515|323943|323945|323953|323954|323957|323959|323961|323969|323970|323971|323974|323989|323990|324001|324008|324010|324012|324013|324014|324031|324032|329962|329965|329967|329969|329971|329973|329974|329976|329980|329983|329984|329985|329986|329988|329993|329995|329996|329998|329999|330001|330004|331328|331329|331330|331331|331336|331342|331350|331357|331360|331362|331363|331364|331366|331368|331375|331376|362084|408608|512929|512930|620429|620430|620431|620841|713468|730857|738579|738580|753286|753289|839742|839743|869562|869563|869564|869565|869566|869567|869568|869569|869570|869571|869572|869573|869574|869575|869576|869577|869578|869579|869580|869581|869582|869583|869584|869585|869586|869587|869588|869589|869590|869591|869592|872209|872210|872211|872212|872213|872214|872215|872216|872217|919423", "text": "Retinal cone dystrophy 4" }, { - "baseId": "17545|17548|17549|17554|17555|17557|34015|34016|192231|193418|237540|271211|329700|329713|329720|329727|339968|339992|345697|345701|345702|347053|347078|347087|347103|360346|361229|378744|445882|467419|467433|481471|481472|509041|531737|531801|550632|609024|656468|679837|679838|679839|684705|684706|688825|791822|919767|941195|950261|961541|974499", + "upstreamId": "17545|17548|17549|17554|17555|17557|34015|34016|192231|193418|237540|271211|329700|329713|329720|329727|339968|339992|345697|345701|345702|347053|347078|347087|347103|360346|361229|378744|445882|467419|467433|481471|481472|509041|531737|531801|550632|609024|656468|679837|679838|679839|684705|684706|688825|791822|919767|941195|950261|961541|974499", "text": "Camptomelic dysplasia" }, { - "baseId": "17546|17547|17548|17549|17551|17556|17557|550632|679800", + "upstreamId": "17546|17547|17548|17549|17551|17556|17557|550632|679800", "text": "Campomelic dysplasia with autosomal sex reversal" }, { - "baseId": "17550|17552|17553", + "upstreamId": "17550|17552|17553", "text": "Acampomelic campomelic dysplasia" }, { - "baseId": "17558|205228|213534|213969|214752|225861|237528|264070|264091|359408|366251|405534|424642|427982|431458|448529|450177|450179|450180|450185|450188|450196|450199|450203|450206|450220|450227|450237|450358|450384|450386|450396|450399|450401|450402|450407|450470|450473|450479|450480|450484|450487|512805|517486|517500|517507|517573|517574|517581|517604|517607|517617|517767|517770|517773|536032|557808|557853|557855|557859|558074|559025|559027|559031|559518|559520|575476|575477|575478|575479|575480|575481|575482|575483|578963|578998|611461|614079|629258|629259|629260|629261|629262|629263|629264|629265|629266|629267|629269|629270|629271|629272|629273|650908|653808|654117|678936|691005|697231|719509|733065|747146|747147|747149|747154|759104|762766|762770|762772|762774|790147|790148|798492|798493|798494|816443|818181|819095|821872|821873|821874|821875|821876|825541|825543|825544|825546|825547|825549|825550|825551|825552|918725|918726|918727|920170|922504|922505|922507|931067|931068|931070|942539|942540|942541|942542|942543|942544|942545|952875|961505|961594|961595|964189|965919|971378", + "upstreamId": "17558|205228|213534|213969|214752|225861|237528|264070|264091|359408|366251|405534|424642|427982|431458|448529|450177|450179|450180|450185|450188|450196|450199|450203|450206|450220|450227|450237|450358|450384|450386|450396|450399|450401|450402|450407|450470|450473|450479|450480|450484|450487|512805|517486|517500|517507|517573|517574|517581|517604|517607|517617|517767|517770|517773|536032|557808|557853|557855|557859|558074|559025|559027|559031|559518|559520|575476|575477|575478|575479|575480|575481|575482|575483|578963|578998|611461|614079|629258|629259|629260|629261|629262|629263|629264|629265|629266|629267|629269|629270|629271|629272|629273|650908|653808|654117|678936|691005|697231|719509|733065|747146|747147|747149|747154|759104|762766|762770|762772|762774|790147|790148|798492|798493|798494|816443|818181|819095|821872|821873|821874|821875|821876|825541|825543|825544|825546|825547|825549|825550|825551|825552|918725|918726|918727|920170|922504|922505|922507|931067|931068|931070|942539|942540|942541|942542|942543|942544|942545|952875|961505|961594|961595|964189|965919|971378", "text": "Chromosome 2q32-q33 deletion syndrome" }, { - "baseId": "17558|18456|26794|208522|287840|361119|364179|513958|514147|536136|610529|610563|610564|610565|682749|969772", + "upstreamId": "17558|18456|26794|208522|287840|361119|364179|513958|514147|536136|610529|610563|610564|610565|682749|969772", "text": "Cleft palate" }, { - "baseId": "17559|17560|17562|135250|190659|190660|242026|242027|273695|322019|322021|322022|322029|322031|322035|322040|322042|322046|322056|322057|322058|322060|322065|322069|322070|322074|322077|322078|322092|331296|331297|331299|331305|331314|331317|331318|331319|331323|331325|331337|331338|331339|331344|331352|331359|331367|331369|331370|331373|338137|338152|338156|338158|338159|338164|338174|338175|338176|338180|338181|338187|338191|338192|338209|338212|338223|338224|338226|338231|338234|338251|338254|338255|338263|340041|340045|340047|340048|340051|340064|340065|340076|340077|340080|340081|340084|340087|340088|340093|340096|374432|376300|400223|400522|400535|464795|528585|528610|528613|529025|529027|529030|566862|566884|573112|573131|642988|642989|642990|642991|642992|652370|652376|652635|684530|688385|688386|688387|784850|842078|842079|873073|873074|873075|873076|873077|873078|873079|873080|873081|873082|873083|873084|873085|873086|873087|873088|873089|873090|873091|873092|873093|873094|873095|873096|873097|873098|873099|873100|873101|873102|873103|873104|873105|873106|873107|873108|873109|873110|873111|873112|873113|873114|873115|873116|873117|873118|873119|873120|873121|920340|927255|927256|927257|971007", + "upstreamId": "17559|17560|17562|135250|190659|190660|242026|242027|273695|322019|322021|322022|322029|322031|322035|322040|322042|322046|322056|322057|322058|322060|322065|322069|322070|322074|322077|322078|322092|331296|331297|331299|331305|331314|331317|331318|331319|331323|331325|331337|331338|331339|331344|331352|331359|331367|331369|331370|331373|338137|338152|338156|338158|338159|338164|338174|338175|338176|338180|338181|338187|338191|338192|338209|338212|338223|338224|338226|338231|338234|338251|338254|338255|338263|340041|340045|340047|340048|340051|340064|340065|340076|340077|340080|340081|340084|340087|340088|340093|340096|374432|376300|400223|400522|400535|464795|528585|528610|528613|529025|529027|529030|566862|566884|573112|573131|642988|642989|642990|642991|642992|652370|652376|652635|684530|688385|688386|688387|784850|842078|842079|873073|873074|873075|873076|873077|873078|873079|873080|873081|873082|873083|873084|873085|873086|873087|873088|873089|873090|873091|873092|873093|873094|873095|873096|873097|873098|873099|873100|873101|873102|873103|873104|873105|873106|873107|873108|873109|873110|873111|873112|873113|873114|873115|873116|873117|873118|873119|873120|873121|920340|927255|927256|927257|971007", "text": "Hereditary spastic paraplegia 6" }, { - "baseId": "17563|17564|626009|919214|964324", + "upstreamId": "17563|17564|626009|919214|964324", "text": "Hypogonadotropic hypogonadism 9 with or without anosmia" }, { - "baseId": "17565|361190|433365|433367|446856|508828|508829|508830|508831|508832|512831|512832|512833|581867|609686|609687|622388|711437|736565|779296|799527|799528|800400|919144|919145|981617", + "upstreamId": "17565|361190|433365|433367|446856|508828|508829|508830|508831|508832|512831|512832|512833|581867|609686|609687|622388|711437|736565|779296|799527|799528|800400|919144|919145|981617", "text": "Slowed nerve conduction velocity, autosomal dominant" }, { - "baseId": "17566", + "upstreamId": "17566", "text": "Osteoarthritis susceptibility 3" }, { - "baseId": "17566", + "upstreamId": "17566", "text": "Lumbar disc degeneration, susceptibility to" }, { - "baseId": "17567|17568|17569|17570|106485|193760|193761|213126|213127|255107|255108|255110|255111|255112|321695|321697|321698|321699|330950|330955|337690|337695|337703|337704|337713|337714|337715|339735|339744|409164|429604|528800|528800|792793|872866|872867|872868|872869|872870|872871|872872|872873|872874|872875|872876|872877|872878|872879|906262|962738|962854", + "upstreamId": "17567|17568|17569|17570|106485|193760|193761|213126|213127|255107|255108|255110|255111|255112|321695|321697|321698|321699|330950|330955|337690|337695|337703|337704|337713|337714|337715|339735|339744|409164|429604|528800|528800|792793|872866|872867|872868|872869|872870|872871|872872|872873|872874|872875|872876|872877|872878|872879|906262|962738|962854", "text": "Bardet-Biedl syndrome 8" }, { - "baseId": "17569", + "upstreamId": "17569", "text": "Postaxial foot polydactyly" }, { - "baseId": "17569|203766|225810|225811|225812|264781|404617|418811|418812|495314|514021|514169|514201|581713|678050|801160|858423|858424|921259|921448", + "upstreamId": "17569|203766|225810|225811|225812|264781|404617|418811|418812|495314|514021|514169|514201|581713|678050|801160|858423|858424|921259|921448", "text": "Intellectual disability, moderate" }, { - "baseId": "17569|181431", + "upstreamId": "17569|181431", "text": "Truncal obesity" }, { - "baseId": "17569|17571|236865|409164|528800|792793|919549", + "upstreamId": "17569|17571|236865|409164|528800|792793|919549", "text": "Retinitis pigmentosa 51" }, { - "baseId": "17572|17573", + "upstreamId": "17572|17573", "text": "Pseudoxanthoma elasticum, modifier of severity of" }, { - "baseId": "17572|204220|204221|538930|792806|963075", + "upstreamId": "17572|204220|204221|538930|792806|963075", "text": "Spondyloocular syndrome, autosomal recessive" }, { - "baseId": "17574|39658|39659|205671|205672|207011|221315|221316|221319|238964|238966|238969|250750|250752|250753|286877|286883|287620|287621|287622|287624|287626|290403|290416|393035|393060|393070|393231|393432|451729|518635|614248|614249|799093|799094|826856|885234|885235|885236|885237|885238|885239|885240|885241|885242|885243|885244|885245|885246|885247|885248|885249|885250|885251|918140|918141", + "upstreamId": "17574|39658|39659|205671|205672|207011|221315|221316|221319|238964|238966|238969|250750|250752|250753|286877|286883|287620|287621|287622|287624|287626|290403|290416|393035|393060|393070|393231|393432|451729|518635|614248|614249|799093|799094|826856|885234|885235|885236|885237|885238|885239|885240|885241|885242|885243|885244|885245|885246|885247|885248|885249|885250|885251|918140|918141", "text": "Fanconi anemia, complementation group L" }, { - "baseId": 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"17575|17576|142555|142556|142557|142560|142561|142562|209411|211583|211585|211588|211592|211593|211595|211596|223670|316359|316361|316368|316369|316377|323782|323783|323785|323787|323788|329881|329891|329892|329899|331160|331182|331184|331188|331191|331192|372891|374660|389202|503924|578498|609823|679710|713438|738546|753202|768943|768946|768947|768948|768949|768950|768951|784306|869538|869539|869540|869541|869542|869543|869544|869545|869546|869547|869548|869549|869550|869551|869552|872208", "text": "Myopathy, lactic acidosis, and sideroblastic anemia 1" }, { - "baseId": 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"text": "Familial Mediterranean fever" }, { - "baseId": "17577|19210|23852|30440|30441|30475|30477|30486|30489|30493|30496|30508|31397|44949|46491|46545|46655|46771|48386|65797|66620|66924|71274|99659|102757|168250|181388|181429|195294|208964|210535|210979|214099|229443|263189|263222|263229|263230|263235|263287|263308|263392|263400|360834|360847|360848|360869|360902|360932|360958|361044|361096|377906|380597|426433|430720|472097|511931|514001|514046|514098|514157|514171|514189|514191|514202|514203|514207|534684|568718|580883|590050|590062|614501|614502|614503|614504|672020|679684|919573", + "upstreamId": 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"17577|17577|17578|17578|17579|17579|17581|17581|17582|17586|17587|17588|17589|17589|17595|17596|45160|45161|45169|45178|45178|50062|103333|103359|103370|103406|103407|103429|103440|103449|103784|465667|487887|505624|614423|644625|644630|816337|843784|975887", "text": "Familial mediterranean fever, autosomal dominant" }, { - "baseId": "17577|45168|45169|103433|905840", + "upstreamId": "17577|45168|45169|103433|905840", "text": "Acute febrile neutrophilic dermatosis" }, { - "baseId": "17586|23034|54002|150126|150127|150128|150129|150130|176733|229300|489148|536059|540582|551288|805098|905852|905853|905854|966698|966714|966715|966716|966717|966718|966719|966723|966724|966735|966737|980653|980681|980690|983684|983686|983687", + "upstreamId": "17586|23034|54002|150126|150127|150128|150129|150130|176733|229300|489148|536059|540582|551288|805098|905852|905853|905854|966698|966714|966715|966716|966717|966718|966719|966723|966724|966735|966737|980653|980681|980690|983684|983686|983687", "text": "Heart, malformation of" }, { - "baseId": "17586|58297|514037|611473|677257", + "upstreamId": "17586|58297|514037|611473|677257", "text": "Renal insufficiency" }, { - "baseId": "17597|17598|17599|17600|17601|17602|101982|101986|101987|177137|196065|215439|247064|268878|268878|315260|315262|315263|315264|315271|322096|322115|328185|328186|328189|328190|329454|329464|329466|329468|329469|329482|374348|482005|526783|640469|687825|693115|724751|724752|738309|738311|752993|839087|851461|868843|868844|868845|868846|868847|868848|868849|919394|935820|947704", + "upstreamId": "17597|17598|17599|17600|17601|17602|101982|101986|101987|177137|196065|215439|247064|268878|268878|315260|315262|315263|315264|315271|322096|322115|328185|328186|328189|328190|329454|329464|329466|329468|329469|329482|374348|482005|526783|640469|687825|693115|724751|724752|738309|738311|752993|839087|851461|868843|868844|868845|868846|868847|868848|868849|919394|935820|947704", "text": "ALG8-CDG" }, { - "baseId": 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+ "upstreamId": 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"text": "Neuronal ceroid lipofuscinosis 5" }, { - "baseId": 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"text": "Neuronal ceroid lipofuscinosis" }, { - "baseId": "17611|133551|133552|133553|133554|133556|133558|133568|133570|133571|133572|136494|139712|139723|139726|180159|180161|212379|212380|292715|292720|292725|292728|292729|292731|292738|292739|292746|292747|292761|292763|292773|294083|294084|294085|294087|294105|294106|294117|294118|294119|294121|294124|294126|297523|297524|297542|297544|297545|297548|297571|297574|297575|297578|297579|297586|297623|297624|297625|297634|297635|297636|297638|297657|297658|297659|297662|297665|297668|297683|389590|389616|795558|890388|890389|890390|890391|890392|890393|890394|890395|890396|890397|890398|890399|890400|890401|890402|890403|890404|890405|890406|890407|890408|890409|890410|890411|890412|890413|890414|890415|890416|890417|890418|890419|890420|890421|890422|891769|891770", + "upstreamId": 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"text": "Pancreatic adenocarcinoma" }, { - "baseId": "17612", + "upstreamId": "17612", "text": "APOLIPOPROTEIN C-II (AFRICAN)" }, { - "baseId": "17612|17613|17614|17615|17616|17617|17618|17619|17620|17621|17622|17623|333740|333752|343711|343712|343714|343716|349061|349063|349064|349069|349950|349951|349953|349956|622464|779910|882114|882115|882116|882117|882118|882905", + "upstreamId": "17612|17613|17614|17615|17616|17617|17618|17619|17620|17621|17622|17623|333740|333752|343711|343712|343714|343716|349061|349063|349064|349069|349950|349951|349953|349956|622464|779910|882114|882115|882116|882117|882118|882905", "text": "Apolipoprotein C2 deficiency" }, { - "baseId": "17613", + "upstreamId": "17613", "text": "APOLIPOPROTEIN C-II (PADOVA)" }, { - "baseId": "17614", + "upstreamId": "17614", "text": "APOLIPOPROTEIN C-II (ST. MICHAEL)" }, { - "baseId": "17615", + "upstreamId": "17615", "text": "APOLIPOPROTEIN C-II (TORONTO)" }, { - "baseId": "17616", + "upstreamId": "17616", "text": "APOLIPOPROTEIN C-II (HAMBURG)" }, { - "baseId": "17617", + "upstreamId": "17617", "text": "APOLIPOPROTEIN C-II (NIJMEGEN)" }, { - "baseId": "17618", + "upstreamId": "17618", "text": "APOLIPOPROTEIN C-II (PARIS)" }, { - "baseId": "17619", + "upstreamId": "17619", "text": "APOLIPOPROTEIN C-II (BARI)" }, { - "baseId": "17620", + "upstreamId": "17620", "text": "Apolipoprotein c-ii variant" }, { - "baseId": "17621", + "upstreamId": "17621", "text": "APOLIPOPROTEIN C-II (SAN FRANCISCO)" }, { - "baseId": "17622", + "upstreamId": "17622", "text": "APOLIPOPROTEIN C-II (WAKAYAMA)" }, { - "baseId": "17623", + "upstreamId": "17623", "text": "APOLIPOPROTEIN C-II (AUCKLAND)" }, { - "baseId": "17625|17626|17627|17628|17629|17630|17631", + "upstreamId": "17625|17626|17627|17628|17629|17630|17631", "text": "Epilepsy, progressive myoclonic 2b" }, { - "baseId": "17625|17626|17627|17630|18137|18138|18139|18140|18141|18145|18146|101205|134449|134451|135212|135213|142225|172293|172294|176972|190490|190682|201931|201943|201949|201950|201951|201953|201954|201956|201957|201958|201959|201960|201961|201965|201968|264259|273612|299623|299625|299626|299631|302191|302192|302197|302202|302206|302222|302223|306566|306575|306576|306579|306580|306581|306586|306593|306594|306603|306608|306610|306863|306873|306876|306878|370201|395081|395082|395084|395687|415037|443935|455536|455545|455553|456282|501254|522169|522178|522182|560505|560662|560664|560666|563488|565537|579396|614298|634776|634777|634778|634779|634780|634781|634782|655727|686817|735549|765596|801990|802161|831750|831751|831752|831753|831754|831755|831756|831757|831758|895671|895672|895673|895674|895675|895676|895677|895678|895679|919001|924305|924306|924307|924308|933245|933246|933247|933248|933249|933250|933251|933252|933253|933254|944952|944953|954405", + "upstreamId": 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"17632|17633|17634|17635|17636", + "upstreamId": "17632|17633|17634|17635|17636", "text": "Glutaric acidemia IIA" }, { - "baseId": 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+ "upstreamId": 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"text": "Multiple acyl-CoA dehydrogenase deficiency" }, { - "baseId": 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+ "upstreamId": "17637|17638|17639|17640|17641|17642|17643|48108|205741|205742|260936|264207|294464|294465|294480|294482|294483|294484|294488|294490|294491|295946|295947|295968|295969|295972|295975|295983|295992|295993|295994|299686|299693|299697|299699|299700|299701|299703|299704|299709|299713|299718|299724|299726|299727|406466|440043|612351|734738|764624|792751|801535|892339|892340|892341|892342|892343|892344|892345|892346|892347|892348|892349|892350|892351|892352|892353|892354|892355|892356|892357|892358|892359|892360|892361|892362|892363|892364|892365|892366|892367|892368|892369|892370|892371|892372|892373|892374|892375|892376|892377|892378|892379|892380|892381|892382|892383|892384|892385|892386|892387|892388|892389|892390|892391|892392|892393|892394|892395|892396|892397|892398|892399|892400|892401|892402|892403|892404|892405|892406|892407|892408|892409|892410|892411|892412|892413|892414|892415|892416|892417|892418|892419|892420|892421|892422|892423|892424|892425|892426|892427|892428|892429|892430|892431|892432|892433|892434|892435|892436|892437|892438|892439|892440|892441|892442|892443|892444|892445|892446|896003|896004|896005|963134|970211|970212", "text": "Hyaline fibromatosis syndrome" }, { - "baseId": "17644|17645|17646|17647|17648|17649|17650|17651|17652|17653|17654|17655|186961|186962|186963|186964|186965|186966|186967|194782|195198|237185|327991|327995|337825|337828|337832|344085|344086|345473|358411|358412|358413|358414|358415|358416|358417|358418|358419|358420|358421|358422|358423|358424|360237|378116|401919|422161|481084|548018|548020|548022|548032|548037|548040|548041|548044|548045|548046|548049|548050|548052|548054|548066|548294|548299|548311|548314|548316|548322|548327|548771|548773|548779|548782|548787|548806|570780|620582|645790|645791|645792|652804|685056|685057|685061|685063|689587|690165|774284|786943|801730|801731|801732|802216|850362|850364|850365|852848|858699|861141|903659|929848|959384|961033|972270|979887|979888", + "upstreamId": "17644|17645|17646|17647|17648|17649|17650|17651|17652|17653|17654|17655|186961|186962|186963|186964|186965|186966|186967|194782|195198|237185|327991|327995|337825|337828|337832|344085|344086|345473|358411|358412|358413|358414|358415|358416|358417|358418|358419|358420|358421|358422|358423|358424|360237|378116|401919|422161|481084|548018|548020|548022|548032|548037|548040|548041|548044|548045|548046|548049|548050|548052|548054|548066|548294|548299|548311|548314|548316|548322|548327|548771|548773|548779|548782|548787|548806|570780|620582|645790|645791|645792|652804|685056|685057|685061|685063|689587|690165|774284|786943|801730|801731|801732|802216|850362|850364|850365|852848|858699|861141|903659|929848|959384|961033|972270|979887|979888", "text": "Spongy degeneration of central nervous system" }, { - "baseId": "17644|17646|17647|17648|186962|186963|186967|358413|487928|548018|548044|917378", + "upstreamId": "17644|17646|17647|17648|186962|186963|186967|358413|487928|548018|548044|917378", "text": "Canavan Disease, Familial Form" }, { - "baseId": "17655", + "upstreamId": "17655", "text": "Canavan disease, mild" }, { - "baseId": "17656|17657|254428|254429|316163|316164|316165|316167|316168|316170|316172|323445|323447|323449|323450|329662|329667|329668|329670|329674|330835|330842|330848|330851|330858|374613|444932|462442|551463|551464|566364|566364|869371|869372|869373|869374|869375|869376|869377|965284", + "upstreamId": "17656|17657|254428|254429|316163|316164|316165|316167|316168|316170|316172|323445|323447|323449|323450|329662|329667|329668|329670|329674|330835|330842|330848|330851|330858|374613|444932|462442|551463|551464|566364|566364|869371|869372|869373|869374|869375|869376|869377|965284", "text": "Distal hereditary motor neuronopathy type 2A" }, { - "baseId": "17657|17658|212989|212990|241247|241248|254428|254429|316163|316164|316165|316167|316168|316170|316172|323445|323447|323449|323450|329662|329667|329668|329670|329674|330835|330842|330848|330851|330858|374613|444932|461647|462203|462440|462442|526934|527263|551465|565079|565081|565082|566364|566364|566365|566369|566377|566378|566384|567685|571293|576150|640649|640650|640651|640652|640653|684305|793410|799667|839345|839346|839347|839348|839349|839350|839351|869371|869372|869373|869374|869375|869376|869377|920312|926474|926475|926476|935928|935929|947794|947795|947796|956754|956755|956756|956757|961303", + "upstreamId": "17657|17658|212989|212990|241247|241248|254428|254429|316163|316164|316165|316167|316168|316170|316172|323445|323447|323449|323450|329662|329667|329668|329670|329674|330835|330842|330848|330851|330858|374613|444932|461647|462203|462440|462442|526934|527263|551465|565079|565081|565082|566364|566364|566365|566369|566377|566378|566384|567685|571293|576150|640649|640650|640651|640652|640653|684305|793410|799667|839345|839346|839347|839348|839349|839350|839351|869371|869372|869373|869374|869375|869376|869377|920312|926474|926475|926476|935928|935929|947794|947795|947796|956754|956755|956756|956757|961303", "text": "Charcot-Marie-Tooth disease, type 2L" }, { - "baseId": "17659|17660", + "upstreamId": "17659|17660", "text": "Ezetimibe response" }, { - "baseId": 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"17661|17662|17663|17664|17665|17666|17667|17668|17669|17670|101979|101980|196327|215309|237214|251769|251775|251778|265853|270136|270774|271094|295556|295557|295562|295569|297318|297331|297332|297339|301162|301168|301169|301174|301175|301190|301347|301359|301363|301376|301381|301418|301422|301425|301430|364112|369638|440859|440866|454689|500679|584198|620185|620186|633466|709647|749248|790517|830343|830344|830348|893063|893064|893065|893066|893067|893068|893069|893070|893075|896042|932726|961647|970798", "text": "Marinesco-Sj\u00f6gren syndrome" }, { - "baseId": "17671|17672|17673|17679|102402|102403|102404|102406|102407|177087|177218|177881|177886|186010|190668|192584|192945|193157|195042|207045|212289|215270|221365|221366|239108|250930|250931|250936|250946|250950|250953|268559|270942|273792|275290|275431|288781|288784|288792|288793|288802|288805|288807|288813|288820|289574|289575|289585|289586|289587|289588|289589|289590|289597|292578|292579|292580|292581|292585|292755|292758|292781|292783|292785|292787|292788|292790|292793|292795|292795|292798|368222|390680|424264|443365|489298|492320|518899|558822|582572|583256|620105|620753|622874|630956|683540|788760|800916|800917|827553|888002|888003|888004|888005|888006|888007|888008|888009|888010|888011|888012|888013|888014|888015|888016|888017|891569|891570|891571|906236|962695|962696|962697", + "upstreamId": "17671|17672|17673|17679|102402|102403|102404|102406|102407|177087|177218|177881|177886|186010|190668|192584|192945|193157|195042|207045|212289|215270|221365|221366|239108|250930|250931|250936|250946|250950|250953|268559|270942|273792|275290|275431|288781|288784|288792|288793|288802|288805|288807|288813|288820|289574|289575|289585|289586|289587|289588|289589|289590|289597|292578|292579|292580|292581|292585|292755|292758|292781|292783|292785|292787|292788|292790|292793|292795|292795|292798|368222|390680|424264|443365|489298|492320|518899|558822|582572|583256|620105|620753|622874|630956|683540|788760|800916|800917|827553|888002|888003|888004|888005|888006|888007|888008|888009|888010|888011|888012|888013|888014|888015|888016|888017|891569|891570|891571|906236|962695|962696|962697", "text": "Nephronophthisis 3" }, { - "baseId": "17673|17675|102402|102403|102404|102406|102407|177087|177218|177881|177886|186010|190668|192945|193157|195042|207045|212289|215270|221365|221366|239108|250930|250931|250936|250946|250950|250953|268559|270942|273792|275290|275431|288781|288784|288792|288793|288802|288805|288807|288813|288820|289574|289575|289585|289586|289587|289588|289589|289590|289597|292578|292579|292580|292581|292585|292755|292758|292781|292783|292785|292787|292788|292790|292793|292795|292795|292798|368222|443365|489298|492320|518899|583256|681804|681805|683540|827553|888002|888003|888004|888005|888006|888007|888008|888009|888010|888011|888012|888013|888014|888015|888016|888017|891569|891570|891571|920187", + "upstreamId": "17673|17675|102402|102403|102404|102406|102407|177087|177218|177881|177886|186010|190668|192945|193157|195042|207045|212289|215270|221365|221366|239108|250930|250931|250936|250946|250950|250953|268559|270942|273792|275290|275431|288781|288784|288792|288793|288802|288805|288807|288813|288820|289574|289575|289585|289586|289587|289588|289589|289590|289597|292578|292579|292580|292581|292585|292755|292758|292781|292783|292785|292787|292788|292790|292793|292795|292795|292798|368222|443365|489298|492320|518899|583256|681804|681805|683540|827553|888002|888003|888004|888005|888006|888007|888008|888009|888010|888011|888012|888013|888014|888015|888016|888017|891569|891570|891571|920187", "text": "Meckel syndrome type 7" }, { - "baseId": "17676|17677|17678|102402|102403|102404|102406|102407|177087|177218|177881|177886|186010|190668|192945|193157|195042|207045|212289|215270|221365|221366|239108|250930|250931|250936|250938|250946|250950|250953|268559|268882|270942|273792|275290|275342|275431|288781|288784|288792|288793|288796|288802|288805|288807|288813|288814|288820|288821|289574|289575|289582|289585|289586|289587|289588|289589|289590|289597|292578|292579|292580|292581|292582|292583|292584|292585|292586|292755|292758|292781|292783|292784|292785|292787|292788|292789|292790|292793|292795|292795|292796|292798|368222|443365|489298|492320|518899|583256|683540|790334|827553|888002|888003|888004|888005|888006|888007|888008|888009|888010|888011|888012|888013|888014|888015|888016|888017|891569|891570|891571", + "upstreamId": "17676|17677|17678|102402|102403|102404|102406|102407|177087|177218|177881|177886|186010|190668|192945|193157|195042|207045|212289|215270|221365|221366|239108|250930|250931|250936|250938|250946|250950|250953|268559|268882|270942|273792|275290|275342|275431|288781|288784|288792|288793|288796|288802|288805|288807|288813|288814|288820|288821|289574|289575|289582|289585|289586|289587|289588|289589|289590|289597|292578|292579|292580|292581|292582|292583|292584|292585|292586|292755|292758|292781|292783|292784|292785|292787|292788|292789|292790|292793|292795|292795|292796|292798|368222|443365|489298|492320|518899|583256|683540|790334|827553|888002|888003|888004|888005|888006|888007|888008|888009|888010|888011|888012|888013|888014|888015|888016|888017|891569|891570|891571", "text": "Renal-hepatic-pancreatic dysplasia 1" }, { - "baseId": 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+ "upstreamId": 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"text": "Ceroid lipofuscinosis neuronal 2" }, { - "baseId": "17682|17683|17683|17686|79630|94620|98791|190746|202559|202566|202569|202579|202591|202592|202603|227507|576142|610532|816322|964036", + "upstreamId": "17682|17683|17683|17686|79630|94620|98791|190746|202559|202566|202569|202579|202591|202592|202603|227507|576142|610532|816322|964036", "text": "Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia" }, { - "baseId": "17689|17690|17691|17692|17693|214774|227204|249533|272403|277359|277360|277362|277370|277372|277379|277380|277394|277395|277396|277398|277560|277561|277567|277569|277576|277577|277578|277579|277588|277590|277591|278412|278430|278433|278436|278437|278439|278441|278443|278444|278445|278447|278449|278455|278456|278459|513497|612253|619967|619968|706868|788730|792712|805072|862776|862777|862778|862779|862780|862781|862782|862783|862784|865033|918580", + "upstreamId": "17689|17690|17691|17692|17693|214774|227204|249533|272403|277359|277360|277362|277370|277372|277379|277380|277394|277395|277396|277398|277560|277561|277567|277569|277576|277577|277578|277579|277588|277590|277591|278412|278430|278433|278436|278437|278439|278441|278443|278444|278445|278447|278449|278455|278456|278459|513497|612253|619967|619968|706868|788730|792712|805072|862776|862777|862778|862779|862780|862781|862782|862783|862784|865033|918580", "text": "Geroderma osteodysplastica" }, { - "baseId": "17694|349793|800170", + "upstreamId": "17694|349793|800170", "text": "Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis" }, { - "baseId": "17695|17696|17697|17698|17699|17700|17701|40301|102540|191301|191847|192793|207477|212584|212585|214072|237291|240081|252796|252801|252802|252803|252804|252806|252807|252809|252810|252811|252812|252813|260446|260787|302812|302813|302835|302840|302842|302846|302850|302853|302856|302857|302859|306173|306176|306177|306180|306183|306185|306186|306187|306189|306191|306193|306194|310925|310927|310932|310933|310934|310936|311127|311131|311136|311175|311177|311181|369720|369721|456709|512824|513580|620261|683889|683890|685219|687047|788815|790719|833582|861628|861629|898007|898008|898009|898010|898011|898012|898013|898014|898015|898016|898017|898018|898019|898020|898021|898022|898023|898024|898025|898026|898027|900357|900358|963359|970857|970858", + "upstreamId": "17695|17696|17697|17698|17699|17700|17701|40301|102540|191301|191847|192793|207477|212584|212585|214072|237291|240081|252796|252801|252802|252803|252804|252806|252807|252809|252810|252811|252812|252813|260446|260787|302812|302813|302835|302840|302842|302846|302850|302853|302856|302857|302859|306173|306176|306177|306180|306183|306185|306186|306187|306189|306191|306193|306194|310925|310927|310932|310933|310934|310936|311127|311131|311136|311175|311177|311181|369720|369721|456709|512824|513580|620261|683889|683890|685219|687047|788815|790719|833582|861628|861629|898007|898008|898009|898010|898011|898012|898013|898014|898015|898016|898017|898018|898019|898020|898021|898022|898023|898024|898025|898026|898027|900357|900358|963359|970857|970858", "text": "Bardet-Biedl syndrome 9" }, { - "baseId": "17702|17703|17704|17705|17706|17707|17708|17709|17710|17711|17712|17713|17714|17715|17716|17717|17718|39646|102450|102451|102452|227720|251140|251147|290330|290341|290464|290465|290467|291198|291199|291208|291210|291214|291215|291216|291220|291221|291353|291354|291358|294472|294474|294475|294476|294477|294485|294486|294494|294572|294580|294582|294590|294887|294891|294907|294908|294909|294919|294928|294930|294933|295012|295013|295020|295021|295024|295028|295029|357324|406308|452640|481480|486318|542981|543229|549554|631448|631449|631450|631451|651045|651114|651199|698100|708864|720450|720451|734070|734072|748272|748273|748274|748275|763906|774817|781676|781681|781682|819399|819400|819401|819402|819403|819404|819405|828180|828181|828182|851053|888909|888910|888911|888912|888913|888914|888915|888916|888917|888918|888919|888920|888921|888922|888923|888924|888925|888926|888927|888928|888965|888966|888967|888968|888969|888970|888971|888972|891646|891647|903522|916913|916914|953491|953492|959698|960511|975778|977839|977840|977841|977842|977843", + "upstreamId": "17702|17703|17704|17705|17706|17707|17708|17709|17710|17711|17712|17713|17714|17715|17716|17717|17718|39646|102450|102451|102452|227720|251140|251147|290330|290341|290464|290465|290467|291198|291199|291208|291210|291214|291215|291216|291220|291221|291353|291354|291358|294472|294474|294475|294476|294477|294485|294486|294494|294572|294580|294582|294590|294887|294891|294907|294908|294909|294919|294928|294930|294933|295012|295013|295020|295021|295024|295028|295029|357324|406308|452640|481480|486318|542981|543229|549554|631448|631449|631450|631451|651045|651114|651199|698100|708864|720450|720451|734070|734072|748272|748273|748274|748275|763906|774817|781676|781681|781682|819399|819400|819401|819402|819403|819404|819405|828180|828181|828182|851053|888909|888910|888911|888912|888913|888914|888915|888916|888917|888918|888919|888920|888921|888922|888923|888924|888925|888926|888927|888928|888965|888966|888967|888968|888969|888970|888971|888972|891646|891647|903522|916913|916914|953491|953492|959698|960511|975778|977839|977840|977841|977842|977843", "text": "Multiple sulfatase deficiency" }, { - "baseId": "17719|17720|17722|17723|17724|17725|17727|39645|190627|247409|252887|252890|252892|252893|252895|252896|418982|418985|418986|418988|418990|418991|418996|418999|441131|456738|456743|456824|457171|457783|512825|553154|561954|561958|563857|566876|577000|577001|581314|581318|581330|581333|581334|609662|636170|636171|636172|636173|651809|687054|687055|687056|689871|695363|736154|799511|819876|833621|833622|833623|833624|833625|861568|924857|924858|959857|963148", + "upstreamId": "17719|17720|17722|17723|17724|17725|17727|39645|190627|247409|252887|252890|252892|252893|252895|252896|418982|418985|418986|418988|418990|418991|418996|418999|441131|456738|456743|456824|457171|457783|512825|553154|561954|561958|563857|566876|577000|577001|581314|581318|581330|581333|581334|609662|636170|636171|636172|636173|651809|687054|687055|687056|689871|695363|736154|799511|819876|833621|833622|833623|833624|833625|861568|924857|924858|959857|963148", "text": "Cerebral cavernous malformations 2" }, { - "baseId": "17728|54806|54807|54809|54812|54813|54814|54815|54817|54819|54820|54823|54825|54826|54828|54829|54829|54830|54831|54834|54836|54837|54838|54839|54840|54841|54842|54845|54846|165839|174126|174265|174543|174545|174546|174684|174824|190881|191257|199790|204465|229648|229651|229654|272116|273159|273252|306539|306540|306544|306553|306555|306558|306561|306562|310735|310737|310738|310740|310755|310756|310758|310763|310769|316101|316102|316104|316105|316118|316119|316125|316127|316132|316135|316136|316473|316474|316482|316486|316489|316491|316497|316498|316505|316506|316508|316509|497050|497111|584172|615804|654527|799561|900881|900882|900883|900884|900885|900886|900887|900888|900889|900890|900891|900892|900893|900894|900895|900896|900897|900898|900899|900900|900901|900902|900903|900904|900905|900906|900907|900908|900909|900910|900911|900912|900913|900914|900915|900916|900917|903301|903302", + "upstreamId": "17728|54806|54807|54809|54812|54813|54814|54815|54817|54819|54820|54823|54825|54826|54828|54829|54829|54830|54831|54834|54836|54837|54838|54839|54840|54841|54842|54845|54846|165839|174126|174265|174543|174545|174546|174684|174824|190881|191257|199790|204465|229648|229651|229654|272116|273159|273252|306539|306540|306544|306553|306555|306558|306561|306562|310735|310737|310738|310740|310755|310756|310758|310763|310769|316101|316102|316104|316105|316118|316119|316125|316127|316132|316135|316136|316473|316474|316482|316486|316489|316491|316497|316498|316505|316506|316508|316509|497050|497111|584172|615804|654527|799561|900881|900882|900883|900884|900885|900886|900887|900888|900889|900890|900891|900892|900893|900894|900895|900896|900897|900898|900899|900900|900901|900902|900903|900904|900905|900906|900907|900908|900909|900910|900911|900912|900913|900914|900915|900916|900917|903301|903302", "text": "Deafness, autosomal recessive 31" }, { - "baseId": "17729|17730|40364|40365|54806|54807|54809|54812|54813|54814|54815|54817|54819|54820|54823|54825|54826|54828|54829|54829|54830|54831|54834|54836|54837|54838|54839|54840|54841|54842|54845|54846|174126|174265|174543|174545|174546|174684|174824|190881|191257|199790|229648|229651|229654|272116|273159|273252|306539|306540|306544|306553|306555|306558|306561|306562|310735|310737|310738|310740|310755|310756|310758|310763|310769|316101|316102|316104|316105|316118|316119|316125|316127|316132|316135|316136|316473|316474|316482|316486|316489|316491|316497|316498|316505|316506|316508|316509|497050|497111|584172|654527|799561|818260|900881|900882|900883|900884|900885|900886|900887|900888|900889|900890|900891|900892|900893|900894|900895|900896|900897|900898|900899|900900|900901|900902|900903|900904|900905|900906|900907|900908|900909|900910|900911|900912|900913|900914|900915|900916|900917|903301|903302", + "upstreamId": "17729|17730|40364|40365|54806|54807|54809|54812|54813|54814|54815|54817|54819|54820|54823|54825|54826|54828|54829|54829|54830|54831|54834|54836|54837|54838|54839|54840|54841|54842|54845|54846|174126|174265|174543|174545|174546|174684|174824|190881|191257|199790|229648|229651|229654|272116|273159|273252|306539|306540|306544|306553|306555|306558|306561|306562|310735|310737|310738|310740|310755|310756|310758|310763|310769|316101|316102|316104|316105|316118|316119|316125|316127|316132|316135|316136|316473|316474|316482|316486|316489|316491|316497|316498|316505|316506|316508|316509|497050|497111|584172|654527|799561|818260|900881|900882|900883|900884|900885|900886|900887|900888|900889|900890|900891|900892|900893|900894|900895|900896|900897|900898|900899|900900|900901|900902|900903|900904|900905|900906|900907|900908|900909|900910|900911|900912|900913|900914|900915|900916|900917|903301|903302", "text": "Usher syndrome, type 2D" }, { - "baseId": "17731|17732|17733|17734|17735|17736|21672|21673|21674|21675|48036", + "upstreamId": "17731|17732|17733|17734|17735|17736|21672|21673|21674|21675|48036", "text": "p phenotype" }, { - "baseId": "17738|17738|17739|102132|177392|190637|237332|253660|259932|309157|313891|313896|313898|319780|320305|320319|371461|371463|371470|373256|459538|459792|460007|460010|460012|460436|524859|525094|525099|525403|525405|563486|563486|563489|563490|564387|564389|564399|569388|569394|626192|638641|638642|638643|638644|638645|638646|638647|638648|638649|638650|638651|638652|692755|692756|692757|712107|751889|767582|767585|783514|836507|836508|836509|903563|906083|925713|925714|925715|925716|925717|925718|934902|934903|934904|934905|934906|934907|934908|946766|955951|955952|955953|955954", + "upstreamId": "17738|17738|17739|102132|177392|190637|237332|253660|259932|309157|313891|313896|313898|319780|320305|320319|371461|371463|371470|373256|459538|459792|460007|460010|460012|460436|524859|525094|525099|525403|525405|563486|563486|563489|563490|564387|564389|564399|569388|569394|626192|638641|638642|638643|638644|638645|638646|638647|638648|638649|638650|638651|638652|692755|692756|692757|712107|751889|767582|767585|783514|836507|836508|836509|903563|906083|925713|925714|925715|925716|925717|925718|934902|934903|934904|934905|934906|934907|934908|946766|955951|955952|955953|955954", "text": "ALG2-CDG" }, { - "baseId": "17738|102132|177392|181169|181170|190637|237332|253660|259932|309157|313891|313896|313898|319780|320305|320319|371461|371463|371470|373256|459538|459792|460007|460010|460012|460436|524859|525094|525099|525403|525405|563486|563489|563490|564387|564389|564399|569388|569394|626192|638641|638642|638643|638644|638645|638646|638647|638648|638649|638650|638651|638652|692755|692756|692757|712107|751889|767582|767585|783514|836507|836508|836509|906083|925713|925714|925715|925716|925717|925718|934902|934903|934904|934905|934906|934907|934908|946766|955951|955952|955953|955954|980210", + "upstreamId": "17738|102132|177392|181169|181170|190637|237332|253660|259932|309157|313891|313896|313898|319780|320305|320319|371461|371463|371470|373256|459538|459792|460007|460010|460012|460436|524859|525094|525099|525403|525405|563486|563489|563490|564387|564389|564399|569388|569394|626192|638641|638642|638643|638644|638645|638646|638647|638648|638649|638650|638651|638652|692755|692756|692757|712107|751889|767582|767585|783514|836507|836508|836509|906083|925713|925714|925715|925716|925717|925718|934902|934903|934904|934905|934906|934907|934908|946766|955951|955952|955953|955954|980210", "text": "Myasthenic syndrome, congenital, 14" }, { - "baseId": "17740|17741|17742|101900|101905|101910|101912|264606|363702|409441|439884|465526|465674|465693|465717|465730|465748|465849|508885|529308|529327|529389|529623|538450|538451|569498|569533|569879|569931|785114", + "upstreamId": "17740|17741|17742|101900|101905|101910|101912|264606|363702|409441|439884|465526|465674|465693|465717|465730|465748|465849|508885|529308|529327|529389|529623|538450|538451|569498|569533|569879|569931|785114", "text": "Epilepsy, childhood absence 6" }, { - "baseId": 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8|843039|843040|843041|843042|843043|843044|843045|843046|843047|843048|843049|843050|843051|843052|843053|843054|843055|843056|843057|843058|843059|843060|843061|843062|843063|843064|843065|843066|843067|851639|851641|851643|852795|852796|927529|927533|927534|927535|927536|927537|927538|927539|927540|927541|927542|927543|927544|927545|927546|927547|927548|927549|927550|927551|927552|927553|927554|927555|937179|937180|937181|937182|937183|937184|937185|937186|937187|937188|937189|937190|937191|937192|937193|937194|937195|937196|937197|937198|937199|937200|937201|937202|937203|937204|937205|937206|937207|937208|937209|937210|937211|937212|940341|940342|941106|941107|941108|941109|941110|949132|949133|949136|949137|949138|949139|949140|949141|949142|949143|949144|949145|949146|949147|949148|949149|949150|949151|949152|949153|949154|949155|949156|949157|949158|949159|957596|957597|957598|957599|957600|957601|957602|957603|957604|957605|957606|957607|957608|957609|957610|957611|960130|960131|960829|960830|960831", "text": "Hyperaldosteronism, familial, type IV" }, { - "baseId": "17744|17745", + "upstreamId": "17744|17745", "text": "Epilepsy, idiopathic generalized 6" }, { - "baseId": "17747|17748|17749|17750|17751|39644|40201|190909|191727|191728|192548|192549|194520|271610|273897|404803|461255|461445|461448|488701|512851|526321|526357|526360|526362|526570|526836|526847|526848|526849|564793|564795|565944|565945|565948|565955|567407|570766|570767|614361|614362|614363|640236|640237|640238|640239|640240|640241|640242|640243|640244|640245|640246|640247|652554|701856|712988|724554|724555|724556|724557|724558|724559|730779|730780|738093|744726|752757|760075|760079|768545|775860|779700|784051|838679|838680|838681|838682|838683|838684|838685|838686|838687|838688|838689|838690|838691|838692|838693|838694|926311|926312|926313|926314|935650|935651|935652|935653|935654|935655|935656|935657|941004|947552|947553|947554|947555|947556|947557|947558|960001|960753", + "upstreamId": "17747|17748|17749|17750|17751|39644|40201|190909|191727|191728|192548|192549|194520|271610|273897|404803|461255|461445|461448|488701|512851|526321|526357|526360|526362|526570|526836|526847|526848|526849|564793|564795|565944|565945|565948|565955|567407|570766|570767|614361|614362|614363|640236|640237|640238|640239|640240|640241|640242|640243|640244|640245|640246|640247|652554|701856|712988|724554|724555|724556|724557|724558|724559|730779|730780|738093|744726|752757|760075|760079|768545|775860|779700|784051|838679|838680|838681|838682|838683|838684|838685|838686|838687|838688|838689|838690|838691|838692|838693|838694|926311|926312|926313|926314|935650|935651|935652|935653|935654|935655|935656|935657|941004|947552|947553|947554|947555|947556|947557|947558|960001|960753", "text": "Leukocyte adhesion deficiency, type III" }, { - "baseId": "17752|17753|17754|17755|17756|17757|225892|225893|225894|225895|225896|225897|225898|225899|225900|225901|225902|225903|225904|225905|225906|225907|225908|225909|225910|225911|225912|225913|225914|257380|257381|257382|257383|257384|257385|336138|336140|336144|336152|336153|336155|336156|336159|336173|336175|336178|336180|336181|336195|336201|336202|336205|336210|336212|336216|336220|336223|345875|345878|345879|345881|345887|345893|345894|345897|345899|345912|345913|345921|345922|345924|345926|345930|345932|345933|345934|345938|345939|345942|345943|345946|345947|345950|345953|345955|345960|350299|350302|350303|350306|350307|350310|350311|350316|350317|350319|350320|350322|350325|350327|350329|350330|350332|350337|350338|350339|350340|350341|350344|350345|350348|350349|351323|351325|351327|351328|351332|351333|351335|351336|351337|351338|351340|351345|351346|351349|351350|351353|351354|351357|351358|351361|351362|351365|410782|717091|728759|728760|886463|886464|886465|886466|886467|886468|886469|886470|886471|886472|886473|886474|886475|886476|886477|886478|886479|886480|886481|886482|886483|886484|886485|886486|886487|886488|886489|886490|886491|886492|886493|886494|886495|886496|886497|886498|886499|886500|886501|886502|886503|886504|886505|886506|886507|887480|887481|887482", + "upstreamId": "17752|17753|17754|17755|17756|17757|225892|225893|225894|225895|225896|225897|225898|225899|225900|225901|225902|225903|225904|225905|225906|225907|225908|225909|225910|225911|225912|225913|225914|257380|257381|257382|257383|257384|257385|336138|336140|336144|336152|336153|336155|336156|336159|336173|336175|336178|336180|336181|336195|336201|336202|336205|336210|336212|336216|336220|336223|345875|345878|345879|345881|345887|345893|345894|345897|345899|345912|345913|345921|345922|345924|345926|345930|345932|345933|345934|345938|345939|345942|345943|345946|345947|345950|345953|345955|345960|350299|350302|350303|350306|350307|350310|350311|350316|350317|350319|350320|350322|350325|350327|350329|350330|350332|350337|350338|350339|350340|350341|350344|350345|350348|350349|351323|351325|351327|351328|351332|351333|351335|351336|351337|351338|351340|351345|351346|351349|351350|351353|351354|351357|351358|351361|351362|351365|410782|717091|728759|728760|886463|886464|886465|886466|886467|886468|886469|886470|886471|886472|886473|886474|886475|886476|886477|886478|886479|886480|886481|886482|886483|886484|886485|886486|886487|886488|886489|886490|886491|886492|886493|886494|886495|886496|886497|886498|886499|886500|886501|886502|886503|886504|886505|886506|886507|887480|887481|887482", "text": "Kindler's syndrome" }, { - "baseId": "17758|17759|17760|17761|17762|17763|17764|17765|237228|331112|331113|331116|331120|331122|331124|331134|331139|331141|331145|331147|331151|341360|341368|341369|341372|341374|341376|341377|341379|341383|341386|341393|341394|341395|341402|341403|341405|341413|341414|346881|346884|346892|346896|346897|346900|346902|346903|348145|348146|348150|348151|348154|348157|348159|348161|348163|348164|348166|348168|348170|348171|348172|348173|576181|620618|620619|704575|715937|715938|715939|715940|727695|727696|727697|727700|741336|741338|879113|879114|879115|879116|879117|879118|879119|879120|879121|879122|879123|879124|879125|879126|879127|879128|879129|879130|879131|879132|879133|879134|879135|879136|879137|879138|879139|880648|880649|880650|880651", + "upstreamId": "17758|17759|17760|17761|17762|17763|17764|17765|237228|331112|331113|331116|331120|331122|331124|331134|331139|331141|331145|331147|331151|341360|341368|341369|341372|341374|341376|341377|341379|341383|341386|341393|341394|341395|341402|341403|341405|341413|341414|346881|346884|346892|346896|346897|346900|346902|346903|348145|348146|348150|348151|348154|348157|348159|348161|348163|348164|348166|348168|348170|348171|348172|348173|576181|620618|620619|704575|715937|715938|715939|715940|727695|727696|727697|727700|741336|741338|879113|879114|879115|879116|879117|879118|879119|879120|879121|879122|879123|879124|879125|879126|879127|879128|879129|879130|879131|879132|879133|879134|879135|879136|879137|879138|879139|880648|880649|880650|880651", "text": "Hypotrichosis 6" }, { - "baseId": "17766|17767|17768|17769|17770|17771|17772|17773|17774|17775|17776|17777|17778|17779|17788|28209|28212|104576|104580|104603|104607|105565|105567|105569|105571|105573|105574|105575|105580|105582|105598|105616|105621|105624|105624|105625|105628|105632|105641|105644|105653|105655|105658|171760|177398|177522|190829|190830|259990|273553|291539|314401|314403|314405|314406|314422|314440|321031|321035|321036|321037|321044|321045|321046|321067|321070|327121|327122|327129|327135|327145|327146|327159|327160|327164|327166|327167|327195|328206|328207|328208|328209|328210|372472|432105|432200|437896|488171|535223|535224|535225|538935|550222|612093|612292|620407|623870|623871|623872|623873|623874|623875|791145|800516|800565|800566|800567|800569|801355|801390|801402|801427|801428|856446|856460|868173|868174|868175|868176|868177|868178|868179|868180|868665|919370|919371|919372|919373|943224|962009|962018", + "upstreamId": "17766|17767|17768|17769|17770|17771|17772|17773|17774|17775|17776|17777|17778|17779|17788|28209|28212|104576|104580|104603|104607|105565|105567|105569|105571|105573|105574|105575|105580|105582|105598|105616|105621|105624|105624|105625|105628|105632|105641|105644|105653|105655|105658|171760|177398|177522|190829|190830|259990|273553|291539|314401|314403|314405|314406|314422|314440|321031|321035|321036|321037|321044|321045|321046|321067|321070|327121|327122|327129|327135|327145|327146|327159|327160|327164|327166|327167|327195|328206|328207|328208|328209|328210|372472|432105|432200|437896|488171|535223|535224|535225|538935|550222|612093|612292|620407|623870|623871|623872|623873|623874|623875|791145|800516|800565|800566|800567|800569|801355|801390|801402|801427|801428|856446|856460|868173|868174|868175|868176|868177|868178|868179|868180|868665|919370|919371|919372|919373|943224|962009|962018", "text": "Vitelliform macular dystrophy type 2" }, { - "baseId": "17779|17780|17781|17782|102552|105614|105615|105624|408395|418961|497622|513092|513093|513094|513095|590304|818292", + "upstreamId": "17779|17780|17781|17782|102552|105614|105615|105624|408395|418961|497622|513092|513093|513094|513095|590304|818292", "text": "Bestrophinopathy, autosomal recessive" }, { - "baseId": 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+ "upstreamId": "17779|18401|22919|22923|22924|22942|22952|101232|101480|101481|104927|104930|104931|104938|104954|104974|104990|105042|105058|105068|105082|105135|105147|105160|105200|105279|105285|105296|105297|105302|105329|105330|105332|105333|105337|105343|105380|105381|105383|105387|105565|105569|105571|105573|105575|105678|105685|105686|105690|105695|105697|139937|139938|139942|139944|152793|172769|177019|177056|177282|177450|177472|177923|190742|190829|190830|191153|191424|191525|192532|193625|193777|194353|194617|195036|196223|237686|237695|237696|237704|249423|250031|250033|255338|256338|265947|266046|267623|267624|268054|271417|276617|276618|276621|276622|276623|276624|276625|276627|276628|276629|276630|276631|276634|276635|276881|276882|276883|276888|276892|276893|276894|277463|277475|277477|277478|277540|277541|277551|277559|277562|278313|278929|278958|279100|279548|279565|280392|280397|280424|280712|280725|281153|281326|281328|281329|281332|281340|281341|281342|281346|281351|281359|281361|281367|281368|281373|281375|281378|281381|281972|281973|281986|281988|281995|281996|282000|282001|282006|282031|282032|282043|282148|282154|282159|282951|283241|283246|283260|283261|283265|283266|283281|283282|283286|283290|283291|283298|283299|283386|283388|283391|283392|283399|283400|283402|283415|283422|283423|283434|283437|283438|283441|283442|283447|283587|283765|283784|284121|285910|286007|286017|286032|286033|286044|286409|286686|286921|286935|287717|287855|287885|287887|287942|287951|288619|288859|289343|289346|290094|291462|291493|291494|291495|291496|291651|291665|291677|292542|292592|292712|293468|293469|293947|293974|294863|295405|296247|296248|296253|296450|296459|296467|297351|297355|297385|297388|297538|297540|297567|298532|298533|298537|298539|298544|298556|298639|298693|299220|300866|300868|300870|300876|300883|300885|300886|300888|300901|301039|301122|301128|302078|302103|302117|302132|302167|302350|302355|302390|302595|303842|303843|305262|305263|305276|305428|305438|305439|305455|305459|305460|305462|305465|305468|305534|305546|305583|305594|305661|307247|308474|308490|308521|308528|310098|310128|310374|314401|314405|314406|314422|314440|315482|321021|321023|321024|321027|321031|321035|321046|321067|321070|322171|322175|323008|323250|323251|323259|323260|323266|323267|323270|323277|323283|323284|323473|325962|325963|325972|326042|327121|327122|327129|327164|327167|327195|328206|328209|328210|329401|329412|329414|329418|329421|329426|329430|329440|329441|329442|329443|329444|329449|329455|330117|330120|330122|330123|332935|332936|332942|332943|332946|332951|332952|332960|332962|332965|332968|333163|335089|335709|335712|335720|336631|336633|336639|336640|336642|338598|338600|338603|339690|339707|339715|339719|339722|339724|339732|339733|339736|339737|339740|339742|339743|339806|339813|339814|339821|339823|340826|341239|341242|341243|341247|341248|341375|342032|342035|343539|345426|345432|345436|345437|345443|345449|345454|345456|345458|345462|345465|345466|346151|346447|346798|346799|346800|346801|346803|346805|346816|346818|346819|347440|347441|347780|353063|353346|353347|353348|353349|353350|353450|353451|353549|725770|794254|872095|872098|872100", "text": "Retinitis Pigmentosa, Recessive" }, { - "baseId": "17779|17783|17785|17790|105565|105567|105569|105571|105573|105574|105575|105580|105582|105615|105616|105621|105624|105632|177522|190829|190830|273553|314401|314403|314405|314406|314422|314440|321031|321035|321036|321037|321044|321045|321046|321067|321070|327121|327122|327129|327135|327145|327146|327159|327160|327164|327166|327167|327195|328206|328207|328208|328209|328210|372472|868173|868174|868175|868176|868177|868178|868179|868180|868665", + "upstreamId": "17779|17783|17785|17790|105565|105567|105569|105571|105573|105574|105575|105580|105582|105615|105616|105621|105624|105632|177522|190829|190830|273553|314401|314403|314405|314406|314422|314440|321031|321035|321036|321037|321044|321045|321046|321067|321070|327121|327122|327129|327135|327145|327146|327159|327160|327164|327166|327167|327195|328206|328207|328208|328209|328210|372472|868173|868174|868175|868176|868177|868178|868179|868180|868665", "text": "Vitreoretinochoroidopathy" }, { - "baseId": "17779|20649|22918|22919|22921|22927|22931|22932|22933|22937|22940|22943|22946|22950|22952|28206|28209|28212|28216|28217|28218|28222|98774|98777|104556|104558|104561|104582|104593|104603|104605|104611|104612|104942|104955|104976|105009|105014|105024|105081|105172|105190|105192|105200|105210|105219|105220|105256|105264|105274|105279|105287|105292|105292|105320|105327|105357|152788|177398|190248|192224|237651|237655|237658|237670|237685|237694|267624|273547|405254|406868|406870|413234|413712|431613|431618|431634|431694|431695|511211|543956|551504|612550|623247|623813|623814|623815|623817|623818|623819|623820|623821|623822|623824|623851|623876|623896|623898|623922|623948|623954|623955|623956|623984|623991|624029|624034|672055|672067|672072|691989|790017|794733|800450|800452|800453|800455|800456|800458|800459|800460|800461|800462|800463|800464|800685|800697|801310|801314|801319|801327|801329|801386|801502|831959|856454|856459|856470|905881|933337|940038|945035|945036|962010|962014|962015|962017|962018|962020|962022|962025|962026|962027|962028", + "upstreamId": "17779|20649|22918|22919|22921|22927|22931|22932|22933|22937|22940|22943|22946|22950|22952|28206|28209|28212|28216|28217|28218|28222|98774|98777|104556|104558|104561|104582|104593|104603|104605|104611|104612|104942|104955|104976|105009|105014|105024|105081|105172|105190|105192|105200|105210|105219|105220|105256|105264|105274|105279|105287|105292|105292|105320|105327|105357|152788|177398|190248|192224|237651|237655|237658|237670|237685|237694|267624|273547|405254|406868|406870|413234|413712|431613|431618|431634|431694|431695|511211|543956|551504|612550|623247|623813|623814|623815|623817|623818|623819|623820|623821|623822|623824|623851|623876|623896|623898|623922|623948|623954|623955|623956|623984|623991|624029|624034|672055|672067|672072|691989|790017|794733|800450|800452|800453|800455|800456|800458|800459|800460|800461|800462|800463|800464|800685|800697|801310|801314|801319|801327|801329|801386|801502|831959|856454|856459|856470|905881|933337|940038|945035|945036|962010|962014|962015|962017|962018|962020|962022|962025|962026|962027|962028", "text": "Stargardt disease" }, { - "baseId": "17784", + "upstreamId": "17784", "text": "Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2" }, { - "baseId": "17786|17787|17788|17789|105624", + "upstreamId": "17786|17787|17788|17789|105624", "text": "Retinitis pigmentosa 50" }, { - "baseId": "17791|17795|17796", + "upstreamId": "17791|17795|17796", "text": "Osteopoikilosis" }, { - "baseId": "17792|17793|17796|17797|268449|271611|273660|318314|318315|318320|318322|318328|318329|318330|318332|326356|326358|326359|326362|326364|326365|326372|326373|326387|326388|326389|326390|326391|332644|332652|332656|332662|332663|332676|332677|332680|332681|332682|332686|332688|332691|332694|332699|334243|334258|334259|334273|334275|334277|334278|334282|334284|334298|334299|334306|493084|583118|588792|611979|612097|620456|702470|730881|738829|870315|870316|870317|870318|870319|870320|870321|870322|870323|870324|870325|870326|870327|870328|870329|870330|870331|870332|870333|870334|870335|870336|870337|870338|870339|870340|919464", + "upstreamId": "17792|17793|17796|17797|268449|271611|273660|318314|318315|318320|318322|318328|318329|318330|318332|326356|326358|326359|326362|326364|326365|326372|326373|326387|326388|326389|326390|326391|332644|332652|332656|332662|332663|332676|332677|332680|332681|332682|332686|332688|332691|332694|332699|334243|334258|334259|334273|334275|334277|334278|334282|334284|334298|334299|334306|493084|583118|588792|611979|612097|620456|702470|730881|738829|870315|870316|870317|870318|870319|870320|870321|870322|870323|870324|870325|870326|870327|870328|870329|870330|870331|870332|870333|870334|870335|870336|870337|870338|870339|870340|919464", "text": "Dermatofibrosis lenticularis disseminata" }, { - "baseId": "17794|17798", + "upstreamId": "17794|17798", "text": "Osteopoikilosis with melorheostosis" }, { - "baseId": "17798|17799", + "upstreamId": "17798|17799", "text": "Dermatofibrosis lenticularis disseminata, isolated" }, { - "baseId": "17800", + "upstreamId": "17800", "text": "Mucolipidosis III alpha/beta, atypical" }, { - "baseId": 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+ "upstreamId": 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"text": "Pseudo-Hurler polydystrophy" }, { - "baseId": 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"text": "Mucolipidosis type II" }, { - "baseId": "17803|17807|20170|46988|46991|47624|47637|47660|47668|47676|47690|49681|384471|497409|654786|969173", + "upstreamId": "17803|17807|20170|46988|46991|47624|47637|47660|47668|47676|47690|49681|384471|497409|654786|969173", "text": "Mucolipidosis" }, { - "baseId": "17807|17810|47625|619924", + "upstreamId": "17807|17810|47625|619924", "text": "GNPTAB-Related Disorders" }, { - "baseId": 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"17812|17813|20146|20147|20148|20149|20150|20151|20152|20153|20154|20155|20156|20157|39416|46976|46986|46990|46992|98515|98516|98517|98518|98520|98521|195855|237044|237319|256535|256536|256537|256538|256541|260197|264874|265041|265225|268475|271274|274269|330478|330481|330484|330486|330494|330496|330505|330509|330519|340705|340707|340708|340710|340711|340713|340717|340735|340737|340739|340742|340747|346322|346323|346326|346328|346331|346338|346353|346355|346358|347699|347700|347701|347704|347705|347706|347709|347718|358524|360293|360474|375756|376651|410305|422209|431001|482159|508893|508894|513371|513648|513649|532014|532089|536959|548451|548457|548458|548462|548465|548466|548467|548468|548471|548472|548474|548475|548479|548485|548491|548498|548836|548837|548846|548847|548849|548855|548857|548860|548861|548864|548865|548867|548871|548873|548874|549207|549208|549212|549214|549215|549219|549221|549225|549226|549763|549764|549765|549767|549769|569940|569943|571747|574683|610522|622512|625886|625887|625888|625889|625890|646960|646961|646962|646963|646964|646965|646966|646967|646968|682851|704429|715784|727505|727506|727507|727508|727509|727510|727511|727512|727513|731185|741120|741121|741122|741123|741124|741125|741126|741127|741129|741130|745103|745126|756214|756215|756216|756217|756218|756219|756220|760495|760684|771933|771934|771935|771936|771937|771938|771939|771941|771942|771944|771945|771946|771947|771948|771949|771950|771951|771953|771954|771955|776409|776743|778412|785799|785801|785802|821175|846487|846488|861650|861651|878763|878764|878765|878766|878767|878768|878769|878770|878771|878772|878773|878774|878775|878776|878777|878778|878779|878780|878781|878782|878783|878784|878785|878786|878787|878788|878789|880616|880617|906106|917279|938316|940446|950385|950386|950387|958384|958385|958386|958387|971097|979934|979935|979936", "text": "Mucopolysaccharidosis, MPS-III-A" }, { - "baseId": "17815|17822|17825|17826|17829|17830|17831|17832", + "upstreamId": "17815|17822|17825|17826|17829|17830|17831|17832", "text": "Glycogen storage disease IV, congenital neuromuscular" }, { - "baseId": "17816|17817", + "upstreamId": "17816|17817", "text": "Glycogen storage disease IV, nonprogressive hepatic" }, { - "baseId": "17816|17816|17816|17817|17817|17818|17818|17819|17820|17820|17821|17821|17822|17823|17824|17825|17827|17831|17832|76826|76827|178812|178812|194797|205142|205142|205142|207091|207091|237241|237241|237441|251279|251279|251281|251281|251283|251283|251285|251287|251288|251288|251289|251290|251290|291664|291664|291674|291675|291675|291676|291682|292986|292988|293004|293011|293020|293020|296258|296261|296275|296275|296277|296304|296305|296307|296318|296320|296321|296321|296329|296336|296338|296338|296340|357325|357325|357326|357326|361403|361403|367385|367406|367414|367729|367733|367733|367734|424441|428221|430978|434587|434587|434587|438253|438253|443515|443515|443517|443517|452788|472256|500841|500841|511513|511514|519598|519890|538363|538363|538363|538364|549555|549555|552403|559231|559678|559680|561057|561818|561818|631793|631794|631794|631795|651052|651128|651147|698295|709048|709048|720643|734303|734303|734304|734304|734305|734305|748534|748534|748535|764168|764169|764169|764170|764170|764174|764175|764175|764176|764176|764178|774865|774865|774904|774904|781805|781808|781810|781812|787404|790422|805000|805001|819415|819416|819417|819418|819419|819420|828568|828569|828570|828571|828572|828573|889704|889705|889706|889707|889708|889709|889710|889711|889712|889713|889714|889715|889716|889717|889718|889719|889720|891707|891708|923356|923357|923358|932086|940765|943704|953592|953593|953594|977993|977994|977995|977996|977997|977998|977999|978000|978001|978002", + "upstreamId": "17816|17816|17816|17817|17817|17818|17818|17819|17820|17820|17821|17821|17822|17823|17824|17825|17827|17831|17832|76826|76827|178812|178812|194797|205142|205142|205142|207091|207091|237241|237241|237441|251279|251279|251281|251281|251283|251283|251285|251287|251288|251288|251289|251290|251290|291664|291664|291674|291675|291675|291676|291682|292986|292988|293004|293011|293020|293020|296258|296261|296275|296275|296277|296304|296305|296307|296318|296320|296321|296321|296329|296336|296338|296338|296340|357325|357325|357326|357326|361403|361403|367385|367406|367414|367729|367733|367733|367734|424441|428221|430978|434587|434587|434587|438253|438253|443515|443515|443517|443517|452788|472256|500841|500841|511513|511514|519598|519890|538363|538363|538363|538364|549555|549555|552403|559231|559678|559680|561057|561818|561818|631793|631794|631794|631795|651052|651128|651147|698295|709048|709048|720643|734303|734303|734304|734304|734305|734305|748534|748534|748535|764168|764169|764169|764170|764170|764174|764175|764175|764176|764176|764178|774865|774865|774904|774904|781805|781808|781810|781812|787404|790422|805000|805001|819415|819416|819417|819418|819419|819420|828568|828569|828570|828571|828572|828573|889704|889705|889706|889707|889708|889709|889710|889711|889712|889713|889714|889715|889716|889717|889718|889719|889720|891707|891708|923356|923357|923358|932086|940765|943704|953592|953593|953594|977993|977994|977995|977996|977997|977998|977999|978000|978001|978002", "text": "Glycogen storage disease, type IV" }, { - "baseId": "17816|17817|17821|178812|227045", + "upstreamId": "17816|17817|17821|178812|227045", "text": "Adult polyglucosan body neuropathy" }, { - "baseId": "17816|205142|291664|291672|620137|620768", + "upstreamId": "17816|205142|291664|291672|620137|620768", "text": "GBE1-Related Disorders" }, { - "baseId": "17816|17817|17818|17818|17819|17820|17820|17821|178812|205142|207091|237241|237441|251279|251281|251283|251288|251290|291664|291675|293020|296275|296321|296338|357325|357326|361403|367385|367729|367733|434587|438253|443515|443517|452788|500841|519598|519890|538363|549555|559231|559678|559680|561057|561818|631793|631794|631795|651052|651128|651147|698295|709048|720643|734303|734304|734305|748534|748535|764168|764169|764170|764174|764175|764176|764178|774865|774904|781805|781808|781810|781812|787404|819415|819416|819417|819418|819419|819420|828568|828569|828570|828571|828572|828573|923356|923357|923358|932086|940765|943704|953592|953593|953594", + "upstreamId": "17816|17817|17818|17818|17819|17820|17820|17821|178812|205142|207091|237241|237441|251279|251281|251283|251288|251290|291664|291675|293020|296275|296321|296338|357325|357326|361403|367385|367729|367733|434587|438253|443515|443517|452788|500841|519598|519890|538363|549555|559231|559678|559680|561057|561818|631793|631794|631795|651052|651128|651147|698295|709048|720643|734303|734304|734305|748534|748535|764168|764169|764170|764174|764175|764176|764178|774865|774904|781805|781808|781810|781812|787404|819415|819416|819417|819418|819419|819420|828568|828569|828570|828571|828572|828573|923356|923357|923358|932086|940765|943704|953592|953593|953594", "text": "Glycogen storage disease IV, classic hepatic" }, { - "baseId": "17816|17816|17830|194797|205142|207091|237241|251279|251281|251283|251285|251287|251288|251289|251290|291674|291675|291676|291682|292986|292988|293004|293011|293020|296258|296261|296275|296277|296304|296305|296307|296318|296320|296321|296329|296336|296338|296340|357325|361403|367406|367414|367733|367734|430978|434587|434587|438253|500841|511514|538363|538363|538364|561818|720643|748534|764176|889704|889705|889706|889707|889708|889709|889710|889711|889712|889713|889714|889715|889716|889717|889718|889719|889720|891707|891708", + "upstreamId": "17816|17816|17830|194797|205142|207091|237241|251279|251281|251283|251285|251287|251288|251289|251290|291674|291675|291676|291682|292986|292988|293004|293011|293020|296258|296261|296275|296277|296304|296305|296307|296318|296320|296321|296329|296336|296338|296340|357325|361403|367406|367414|367733|367734|430978|434587|434587|438253|500841|511514|538363|538363|538364|561818|720643|748534|764176|889704|889705|889706|889707|889708|889709|889710|889711|889712|889713|889714|889715|889716|889717|889718|889719|889720|891707|891708", "text": "Adult polyglucosan body disease" }, { - "baseId": "17820|17827", + "upstreamId": "17820|17827", "text": "Glycogen storage disease IV, childhood neuromuscular" }, { - "baseId": "17821|17828", + "upstreamId": "17821|17828", "text": "Glycogen storage disease IV, combined hepatic and myopathic" }, { - "baseId": "17823|17824", + "upstreamId": "17823|17824", "text": "Glycogen storage disease IV, fatal perinatal neuromuscular" }, { - "baseId": "17833|17834|17835|17836|17837|17838|17839|17840|34565|34566|34567|34568|34569|34570|34571|34572|34573|34574|34575|34576|39642|47683|78999|324084|324089|324096|324097|324103|324108|333708|333711|333712|333718|333721|333724|333726|333727|333728|340469|340471|340473|340474|340478|340480|340482|340483|341852|341853|341864|353336|384470|384471|431017|445491|512945|547668|547669|547670|547672|547673|547676|547682|547692|547702|547717|547719|547720|547722|547724|547727|547729|547733|547735|547742|547746|547976|547980|547981|547987|547990|547993|547996|547997|547998|548410|548412|548420|548422|548424|548428|548430|548437|548442|548448|548449|548452|548456|548459|643904|714735|714736|726423|726425|726426|739950|739951|745196|754888|754889|754893|754897|754898|770538|770539|770540|770543|770544|770546|770547|776127|779750|785136|843070|843076|843078|843081|843082|843084|874619|874620|874621|874622|874623|874624|874625|874626|874627|874628|874629|874630|874631|874632|876610|876611|905846|906163|906164|979747|979748|979749|979750|979751|979752|979753|979754|979755|979756|979757|979758|979759", + "upstreamId": "17833|17834|17835|17836|17837|17838|17839|17840|34565|34566|34567|34568|34569|34570|34571|34572|34573|34574|34575|34576|39642|47683|78999|324084|324089|324096|324097|324103|324108|333708|333711|333712|333718|333721|333724|333726|333727|333728|340469|340471|340473|340474|340478|340480|340482|340483|341852|341853|341864|353336|384470|384471|431017|445491|512945|547668|547669|547670|547672|547673|547676|547682|547692|547702|547717|547719|547720|547722|547724|547727|547729|547733|547735|547742|547746|547976|547980|547981|547987|547990|547993|547996|547997|547998|548410|548412|548420|548422|548424|548428|548430|548437|548442|548448|548449|548452|548456|548459|643904|714735|714736|726423|726425|726426|739950|739951|745196|754888|754889|754893|754897|754898|770538|770539|770540|770543|770544|770546|770547|776127|779750|785136|843070|843076|843078|843081|843082|843084|874619|874620|874621|874622|874623|874624|874625|874626|874627|874628|874629|874630|874631|874632|876610|876611|905846|906163|906164|979747|979748|979749|979750|979751|979752|979753|979754|979755|979756|979757|979758|979759", "text": "Mucolipidosis type III gamma" }, { - "baseId": "17841|17843|193654|202217|614318", + "upstreamId": "17841|17843|193654|202217|614318", "text": "Ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant" }, { - "baseId": "17841|17842|17843|17843|17845|71342|71343|71344|71345|71346|71347|71348|71349|71350|71351|71352|71353|71354|71355|71356|71357|71358|71359|101820|106601|186761|192506|193654|193654|202200|202206|202207|202209|202213|202217|202217|207537|357629|357630|357631|407357|407358|458656|480573|523713|523977|544401|544403|544404|544689|544692|544695|544698|544700|544702|544720|544744|544745|544748|544749|544753|579373|614318|687252|834527|955381|978455|978456|978457|978458|978459|978460", + "upstreamId": "17841|17842|17843|17843|17845|71342|71343|71344|71345|71346|71347|71348|71349|71350|71351|71352|71353|71354|71355|71356|71357|71358|71359|101820|106601|186761|192506|193654|193654|202200|202206|202207|202209|202213|202217|202217|207537|357629|357630|357631|407357|407358|458656|480573|523713|523977|544401|544403|544404|544689|544692|544695|544698|544700|544702|544720|544744|544745|544748|544749|544753|579373|614318|687252|834527|955381|978455|978456|978457|978458|978459|978460", "text": "Neuronal ceroid lipofuscinosis 8" }, { - "baseId": 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"text": "Fraser syndrome 1" }, { - "baseId": "17856", + "upstreamId": "17856", "text": "Uric acid nephrolithiasis, susceptibility to" }, { - "baseId": 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"text": "Cohen syndrome" }, { - "baseId": 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"text": "History of neurodevelopmental disorder" }, { - "baseId": "17870|20901|513659|622917|980965", + "upstreamId": "17870|20901|513659|622917|980965", "text": "Bradyopsia" }, { - "baseId": 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"text": "Deficiency of acetyl-CoA acetyltransferase" }, { - "baseId": "17886|17887|17888|17889|17890|17891|17892|101840|190588|195397|247333|250819|273022|287702|287703|287706|287710|287712|287713|287714|287718|287720|287730|287739|287741|287745|287749|288407|288417|288422|288423|288427|288429|288430|288433|288434|288435|288436|291248|291250|291262|291270|291280|291282|291283|291284|291287|291292|291394|291400|291417|291428|291429|291432|291444|291445|291447|291453|428105|509046|615923|623272|697709|697710|730166|790304|800477|818218|885713|885714|885715|885716|885717|885718|885719|885720|885721|885722|885723|885724|885725|885726|885727|885728|885729|885730|885731|885732|885733|885734|885735|885736|885737|885738|885739|885740|885741|885742|885743|885744", + "upstreamId": "17886|17887|17888|17889|17890|17891|17892|101840|190588|195397|247333|250819|273022|287702|287703|287706|287710|287712|287713|287714|287718|287720|287730|287739|287741|287745|287749|288407|288417|288422|288423|288427|288429|288430|288433|288434|288435|288436|291248|291250|291262|291270|291280|291282|291283|291284|291287|291292|291394|291400|291417|291428|291429|291432|291444|291445|291447|291453|428105|509046|615923|623272|697709|697710|730166|790304|800477|818218|885713|885714|885715|885716|885717|885718|885719|885720|885721|885722|885723|885724|885725|885726|885727|885728|885729|885730|885731|885732|885733|885734|885735|885736|885737|885738|885739|885740|885741|885742|885743|885744", "text": "Jalili syndrome" }, { - "baseId": "17893|17894|17894|17895|17896|17897|259726|550877", + "upstreamId": "17893|17894|17894|17895|17896|17897|259726|550877", "text": "Autosomal recessive congenital ichthyosis 4A" }, { - "baseId": "17894|17898|17899|17900|17901|17902|17903|259726|405611|423860|481231|609014|622218|622219|622220|622221|622222|622223|622224|792727|918733|918734", + "upstreamId": "17894|17898|17899|17900|17901|17902|17903|259726|405611|423860|481231|609014|622218|622219|622220|622221|622222|622223|622224|792727|918733|918734", "text": "Autosomal recessive congenital ichthyosis 4B" }, { - "baseId": "17900|236997|237008|237067|237268|237450|250545|250546|250548|250550|250551|250552|250553|250554|250555|250556|250557|284587|284588|284596|284598|284605|284608|284611|284612|284614|284617|284627|284629|284635|284636|284639|285285|285286|285289|285290|285293|285297|285300|285301|285302|285304|285307|285308|285309|285310|285313|285314|285320|285323|285326|285327|285328|287460|287462|287463|287464|287465|287471|287472|287473|287474|287477|287478|287483|287487|287488|287673|287675|287676|287677|287678|287697|287704|287715|287723|287724|287725|287729|287731|287732|287733|287734|287735|287736|287737|287740|287742|438190|481459|612594|612595|620057|620058|620741|622232|622233|697296|697297|708002|719581|719582|719589|719590|743855|747256|762881|778924|883675|883676|883677|883678|883679|883680|883681|883682|883683|883684|883685|883686|883687|883688|883689|883690|883691|883692|883693|883694|883695|883696|883697|883698|883699|883700|883701|883702|883703|883704|883705|883706|883707|883708|883709|883710|883711|883712|883713|883714|883715|883716|883717|883718|883719|883720|883721|883722|883723|887262|887263|887264|887265|887266|887267|887268|887269|887270|887271|887272", + "upstreamId": "17900|236997|237008|237067|237268|237450|250545|250546|250548|250550|250551|250552|250553|250554|250555|250556|250557|284587|284588|284596|284598|284605|284608|284611|284612|284614|284617|284627|284629|284635|284636|284639|285285|285286|285289|285290|285293|285297|285300|285301|285302|285304|285307|285308|285309|285310|285313|285314|285320|285323|285326|285327|285328|287460|287462|287463|287464|287465|287471|287472|287473|287474|287477|287478|287483|287487|287488|287673|287675|287676|287677|287678|287697|287704|287715|287723|287724|287725|287729|287731|287732|287733|287734|287735|287736|287737|287740|287742|438190|481459|612594|612595|620057|620058|620741|622232|622233|697296|697297|708002|719581|719582|719589|719590|743855|747256|762881|778924|883675|883676|883677|883678|883679|883680|883681|883682|883683|883684|883685|883686|883687|883688|883689|883690|883691|883692|883693|883694|883695|883696|883697|883698|883699|883700|883701|883702|883703|883704|883705|883706|883707|883708|883709|883710|883711|883712|883713|883714|883715|883716|883717|883718|883719|883720|883721|883722|883723|887262|887263|887264|887265|887266|887267|887268|887269|887270|887271|887272", "text": "Congenital ichthyosis of skin" }, { - "baseId": "17904|17905|17906|17907|17908|17909|17910|17911|286586|286593|286595|286596|286603|286606|286613|286614|286624|286625|286633|286634|286637|286638|287306|287312|287313|287314|287317|287319|287321|287324|287325|287332|287335|287341|287353|287356|287357|287358|287366|289647|289648|289657|289658|289659|289661|289664|289667|289668|289684|289685|290072|290073|290074|290078|290079|290080|290092|290098|290100|290101|290102|290107|290108|290110|290114|290133|290141|290142|788755|885073|885074|885075|885076|885077|885078|885079|885080|885081|885082|885083|885084|885085|885086|885087|885088|885089|885090|885091|885092|885093|885094|885095|885096|885097|885098|885099|885100|885101|885102|885103|885104|885105|885106|885107|885108|885109|885110|885111|885112|885113|885114|885115|885116", + "upstreamId": "17904|17905|17906|17907|17908|17909|17910|17911|286586|286593|286595|286596|286603|286606|286613|286614|286624|286625|286633|286634|286637|286638|287306|287312|287313|287314|287317|287319|287321|287324|287325|287332|287335|287341|287353|287356|287357|287358|287366|289647|289648|289657|289658|289659|289661|289664|289667|289668|289684|289685|290072|290073|290074|290078|290079|290080|290092|290098|290100|290101|290102|290107|290108|290110|290114|290133|290141|290142|788755|885073|885074|885075|885076|885077|885078|885079|885080|885081|885082|885083|885084|885085|885086|885087|885088|885089|885090|885091|885092|885093|885094|885095|885096|885097|885098|885099|885100|885101|885102|885103|885104|885105|885106|885107|885108|885109|885110|885111|885112|885113|885114|885115|885116", "text": "Factor v and factor viii, combined deficiency of, 2" }, { - "baseId": "17904|23101|23102|23103|23104|23105|256704|256705|256707|256708|286640|287359|289645|289646|289694|289695|289719|289722|290093|331983|331985|331997|331998|332005|332013|332016|342208|342210|342211|342217|342218|347566|347568|347572|347576|347584|347591|347592|347593|347599|347600|347604|347607|347608|347609|347610|347613|347617|347618|347623|348942|348948|348953|348955|348956|348960|348963|348964|348965|348968|348971|348973|348974|615328|615604|788955|879556|879557|879558|879559|879560|879561|879562|879563|879564|879565|879566|879567|879568|879569|879570|879571|879572|879573|879574|879575|879576|879577|879578|879579|879580|879581|879582|879583|879584|879585|879586|879587|879588|879589|879590|879591|879592|879593|879594|879595|879596|879597|879598|879599|880670", + "upstreamId": "17904|23101|23102|23103|23104|23105|256704|256705|256707|256708|286640|287359|289645|289646|289694|289695|289719|289722|290093|331983|331985|331997|331998|332005|332013|332016|342208|342210|342211|342217|342218|347566|347568|347572|347576|347584|347591|347592|347593|347599|347600|347604|347607|347608|347609|347610|347613|347617|347618|347623|348942|348948|348953|348955|348956|348960|348963|348964|348965|348968|348971|348973|348974|615328|615604|788955|879556|879557|879558|879559|879560|879561|879562|879563|879564|879565|879566|879567|879568|879569|879570|879571|879572|879573|879574|879575|879576|879577|879578|879579|879580|879581|879582|879583|879584|879585|879586|879587|879588|879589|879590|879591|879592|879593|879594|879595|879596|879597|879598|879599|880670", "text": "Combined deficiency of factor V and factor VIII, 1" }, { - "baseId": "17912|17913|17914|17915|17916|17917|45327|45330|45331|45332|45333|187183|196754|196755|196756|196757|196758|236749|238334|238335|238336|246888|249983|249984|249986|249987|249988|249989|249990|260587|260588|260592|260593|260608|260609|260620|260626|280890|280891|280895|280902|280908|280911|280925|280929|280937|280941|280946|280951|281418|281421|281423|281431|281441|281446|281453|281456|281460|281473|282664|282665|282667|282690|282694|282939|282943|282945|282961|282962|282969|282970|282973|282975|354066|354068|362650|362651|362652|362653|362654|362655|362656|362657|362658|362659|362660|389422|391339|391346|391356|391359|391368|391371|391411|391518|391525|391530|391531|424995|424996|424997|424998|424999|431937|431938|431944|434136|434137|434140|442868|446937|448217|448243|448246|448250|448373|448374|483166|486860|486880|486881|486886|486915|486918|486922|498542|498556|508771|515983|515985|515988|516028|516048|516054|516137|516139|516151|516153|516156|538521|538526|538527|557107|557385|558559|588440|609293|612369|612370|616147|616151|616154|616162|616170|616172|616174|616178|616185|616190|616192|616199|616203|621085|621086|628162|628163|628164|628165|628166|628167|628168|650768|672392|683374|685108|685816|685819|690647|696802|780743|789411|824253|824254|824255|824256|864631|864632|864633|864634|864635|864636|864637|864638|864639|864640|864641|864642|864643|864644|864645|864646|864647|864648|864649|864650|864651|907280|907371|907396|907419|907456|916828|922119|930604|942037|942038|952474|970696|970697|976694|976695|976697|976698", + "upstreamId": 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"text": "Familial hypercholesterolemia 3" }, { - "baseId": 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"text": "Familial hypercholesterolemia 1" }, { - "baseId": "17915|17916|17917|17919", + "upstreamId": "17915|17916|17917|17919", "text": "Low density lipoprotein cholesterol level quantitative trait locus 1" }, { - "baseId": 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"text": "Familial hypercholesterolemia" }, { - "baseId": "17916|17917|434138|434146", + "upstreamId": "17916|17917|434138|434146", "text": "Hypocholesterolemia" }, { - "baseId": "17917|32929|45327|45330|45331|45332|45333|196755|196756|196757|196758|206939|228912|238334|249983|249984|249986|249987|249988|249989|249990|260587|260588|260608|260609|260620|260626|280890|280891|280895|280902|280908|280911|280925|280929|280937|280941|280946|280951|281418|281431|281441|281446|281453|281456|281460|281473|282665|282667|282690|282694|282939|282943|282945|282961|282962|282969|282970|282973|282975|361171|391339|391359|391368|391518|424996|424997|427985|427986|431937|434137|448374|486886|486915|486918|498542|516028|516048|516151|538526|538527|557107|616178|616190|616199|621086|696802|789411|864631|864632|864633|864634|864635|864636|864637|864638|864639|864640|864641|864642|864643|864644|864645|864646|864647|864648|864649|864650|864651", + "upstreamId": "17917|32929|45327|45330|45331|45332|45333|196755|196756|196757|196758|206939|228912|238334|249983|249984|249986|249987|249988|249989|249990|260587|260588|260608|260609|260620|260626|280890|280891|280895|280902|280908|280911|280925|280929|280937|280941|280946|280951|281418|281431|281441|281446|281453|281456|281460|281473|282665|282667|282690|282694|282939|282943|282945|282961|282962|282969|282970|282973|282975|361171|391339|391359|391368|391518|424996|424997|427985|427986|431937|434137|448374|486886|486915|486918|498542|516028|516048|516151|538526|538527|557107|616178|616190|616199|621086|696802|789411|864631|864632|864633|864634|864635|864636|864637|864638|864639|864640|864641|864642|864643|864644|864645|864646|864647|864648|864649|864650|864651", "text": "Hypobetalipoproteinemia" }, { - "baseId": "17920|17921|17922|17923|17924", + "upstreamId": "17920|17921|17922|17923|17924", "text": "Congenital bile acid synthesis defect 1" }, { - "baseId": "17925|17926|17927|362444|576139", + "upstreamId": "17925|17926|17927|362444|576139", "text": "Mental retardation, autosomal dominant 4" }, { - "baseId": 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+ "upstreamId": "17928|17929|17930|17931|17932|17933|17934|17935|17937|17938|17939|17940|17941|17942|28592|28593|28594|28595|28596|28597|28599|28600|28601|28602|28603|28604|28605|28606|28607|28608|59386|59387|213645|227393|227393|227425|236945|237001|256203|256204|256205|256223|256224|256225|256226|256227|256228|256230|328692|328696|328700|328707|328708|328712|328714|328716|328718|328721|328969|328974|328991|328993|328996|328998|328999|329000|329004|329007|329010|329013|329014|338679|338681|338687|338689|338692|338695|338702|338703|338711|338983|338988|338990|339008|339014|339020|339023|339025|339027|344745|344747|344748|344755|344758|344767|344768|344772|344993|345000|345003|345007|345009|345018|345020|345022|345024|345026|345027|345032|345034|346140|346143|346147|346149|346155|346156|346159|346160|346342|346345|346346|346348|346362|346364|346367|346368|346374|346379|378307|378308|404831|404831|404832|404832|415564|429974|429981|429982|468281|574499|612107|612136|615566|615568|615569|615571|615572|615573|615574|615576|615577|615578|615579|615580|615581|615582|615583|615586|615587|615589|615747|615748|615749|615750|615751|615752|615753|620592|620593|620885|679346|684676|684677|684682|684683|684685|684688|684690|688773|688774|688784|788911|801169|801170|801250|845494|845495|877749|877750|877751|877752|877753|877754|877755|877756|877757|877758|877759|877760|877761|877762|877763|877764|877765|877766|877767|877768|877769|877770|877771|877772|877773|877822|877823|877824|877825|877826|877827|877828|877829|877830|877831|877832|877833|877834|877835|877836|877837|877838|877839|877840|877841|877842|877843|877844|877845|877846|877847|877848|877849|880538|880539|880540|880541|880542|880544|958144|958145|959435|959436|959437|959438|959439|959440|959441|959442|959443|959444|959445|959446|959447|959448|959449|959450|959451|959452|959453|959454|959455|959456|959457|959458|959459|959460|959461|959462|959463|959464|959465|959466|959467|959468|959469|959470|959471|959472|959473|959474|959475|959476|959477|959478|959479|959480|959481|959482|959483|959484|959485|959486|959487|959488|959489|959490|959491|959492|959493|959494|959495|959496|959497|959498|959499|959500|959501|959502|959503|960222|965256|965257|965258|965259|965260|965261|965262|965263|983869|983870|983871|983872|983873|983874|983875|983876|983877|983878|983879|983880|983881|983882|983883|983884|983885|983886|983887|983888|983889|983890|983891|983892|983893|983894|983895|983896|983897|983898|983899|983900|983901|983902|983903|983904|983905|983906|983907|983908|983909|983910|983911|983912|983913|983914|983915|983916|983917|983918|983919|983920|983921|983922|983923|983924|983925", "text": "Glanzmann thrombasthenia" }, { - "baseId": "17930", + "upstreamId": "17930", "text": "BAK PLATELET-SPECIFIC ANTIGEN" }, { - "baseId": "17943|17944|17945", + "upstreamId": "17943|17944|17945", "text": "Phenylthiocarbamide tasting" }, { - "baseId": "17946|21759|31645|31646|174555|174828|189039|194360|253249|253250|253251|268286|273834|274187|306215|306216|306218|306231|306234|306238|306251|306252|306256|306257|310320|310326|310331|310332|310350|310354|310355|310356|310361|310368|315624|315676|315677|315679|315680|315685|315686|315691|315692|315733|315741|315801|315804|315805|315808|315809|319672|481859|552038|620313|900632|900633|900634|900635|900636|900637|900638|900639|900640|900641|900642|900643|900644|900645|900646|900647|900648|900649|900650|900651|900652|900653|900654|900655|900656|900657|900658|900659|900660|900661|900662|900663|900664|900665|900666|900667", + "upstreamId": "17946|21759|31645|31646|174555|174828|189039|194360|253249|253250|253251|268286|273834|274187|306215|306216|306218|306231|306234|306238|306251|306252|306256|306257|310320|310326|310331|310332|310350|310354|310355|310356|310361|310368|315624|315676|315677|315679|315680|315685|315686|315691|315692|315733|315741|315801|315804|315805|315808|315809|319672|481859|552038|620313|900632|900633|900634|900635|900636|900637|900638|900639|900640|900641|900642|900643|900644|900645|900646|900647|900648|900649|900650|900651|900652|900653|900654|900655|900656|900657|900658|900659|900660|900661|900662|900663|900664|900665|900666|900667", "text": "Hypercholanemia, familial" }, { - "baseId": "17947|404783|425216|583105|920275", + "upstreamId": "17947|404783|425216|583105|920275", "text": "Cerebral palsy, spastic quadriplegic, 2" }, { - "baseId": "17948|82291|142666|142667|142668|142669|192151|212975|212977|222194|222196|222198|222199|241222|241223|241225|244701|244702|244704|254371|312026|312046|312075|315582|315590|315591|315596|315597|315598|315604|315606|315608|315609|315614|315615|315619|315627|315646|315647|315650|315652|317682|317724|317727|322423|322424|322425|322438|322441|322443|322447|322450|322452|322453|322462|322471|322472|322492|322493|323641|323734|323765|323770|324393|324481|328619|328659|328663|328664|328665|328675|328676|328677|328679|328695|328697|328709|328710|328713|329870|329879|329880|329888|329889|329890|329893|329895|329909|329912|329915|329916|371932|372773|374431|384516|415315|421892|441490|441493|444695|461556|504490|508858|526572|564984|571122|578495|620425|620426|625755|640560|684271|687683|791185|799661|839216|839237|866766|866767|866768|866820|866821|866822|868577|868686|868989|868990|868991|868992|868993|868994|868995|868996|868997|868998|868999|869000|869001|869002|869003|869004|869005|869006|869007|872154|872155|872156|919402|935889|970925", + "upstreamId": "17948|82291|142666|142667|142668|142669|192151|212975|212977|222194|222196|222198|222199|241222|241223|241225|244701|244702|244704|254371|312026|312046|312075|315582|315590|315591|315596|315597|315598|315604|315606|315608|315609|315614|315615|315619|315627|315646|315647|315650|315652|317682|317724|317727|322423|322424|322425|322438|322441|322443|322447|322450|322452|322453|322462|322471|322472|322492|322493|323641|323734|323765|323770|324393|324481|328619|328659|328663|328664|328665|328675|328676|328677|328679|328695|328697|328709|328710|328713|329870|329879|329880|329888|329889|329890|329893|329895|329909|329912|329915|329916|371932|372773|374431|384516|415315|421892|441490|441493|444695|461556|504490|508858|526572|564984|571122|578495|620425|620426|625755|640560|684271|687683|791185|799661|839216|839237|866766|866767|866768|866820|866821|866822|868577|868686|868989|868990|868991|868992|868993|868994|868995|868996|868997|868998|868999|869000|869001|869002|869003|869004|869005|869006|869007|872154|872155|872156|919402|935889|970925", "text": "Charcot-Marie-Tooth disease, type 4B2" }, { - "baseId": "17949|17950|17951", + "upstreamId": "17949|17950|17951", "text": "Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma" }, { - "baseId": "17953|17954|17955|17956|17957|19972|40256|57290|57294|57295|57296|57298|57303|76647|176636|176637|230790|267403|271628|329798|329799|329801|329802|329811|329813|340090|340092|340103|340108|340115|340120|340121|345789|345795|345797|345800|345801|345809|345810|345814|345818|345820|347194|347198|347203|347204|347205|506389|552027|615827|620606|846182|846191|878385|878386|878387|878388|878389|878390|878391|878392|878393|878394|878395|878396|878397|878398|878399|878400|878401|878402|878403|878404|878405|878406|878407|878408|878409|878410", + "upstreamId": "17953|17954|17955|17956|17957|19972|40256|57290|57294|57295|57296|57298|57303|76647|176636|176637|230790|267403|271628|329798|329799|329801|329802|329811|329813|340090|340092|340103|340108|340115|340120|340121|345789|345795|345797|345800|345801|345809|345810|345814|345818|345820|347194|347198|347203|347204|347205|506389|552027|615827|620606|846182|846191|878385|878386|878387|878388|878389|878390|878391|878392|878393|878394|878395|878396|878397|878398|878399|878400|878401|878402|878403|878404|878405|878406|878407|878408|878409|878410", "text": "Usher syndrome, type 1G" }, { - "baseId": 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"text": "Usher syndrome type 1" }, { - "baseId": "17958|17959|17960|214523|626354", + "upstreamId": "17958|17959|17960|214523|626354", "text": "Thyroid hormone metabolism, abnormal" }, { - "baseId": "17961|17962|17963|17964|17965|17966|17967|17968|512900", + "upstreamId": "17961|17962|17963|17964|17965|17966|17967|17968|512900", "text": "Chylomicron retention disease" }, { - "baseId": "17969|17970|34355|34356|48167|539037", + "upstreamId": "17969|17970|34355|34356|48167|539037", "text": "Cold-induced sweating syndrome 2" }, { - "baseId": "17971|17972|17973|17974|17975|99931|99932|190386|254709|267600|318289|318294|318295|318296|318300|318301|318305|318306|318308|318309|326274|326305|326307|326308|326315|326318|326319|326320|326328|332552|332553|332577|332579|332581|332584|332601|332602|332605|332612|332616|332623|332632|334160|334171|334176|334177|334201|334206|334208|334210|334211|334212|334225|334233|334234|334242|408733|504073|565703|578510|625883|641371|652737|713708|713709|738825|738826|738827|744914|753550|753551|769278|775864|784456|784458|784460|820515|820516|820517|840220|840221|851957|870290|870291|870292|870293|870294|870295|870296|870297|870298|870299|870300|870301|870302|870303|870304|870305|870306|870307|870308|870309|870310|870311|870312|870313|870314|872284|926720|948138|960791|964398", + "upstreamId": "17971|17972|17973|17974|17975|99931|99932|190386|254709|267600|318289|318294|318295|318296|318300|318301|318305|318306|318308|318309|326274|326305|326307|326308|326315|326318|326319|326320|326328|332552|332553|332577|332579|332581|332584|332601|332602|332605|332612|332616|332623|332632|334160|334171|334176|334177|334201|334206|334208|334210|334211|334212|334225|334233|334234|334242|408733|504073|565703|578510|625883|641371|652737|713708|713709|738825|738826|738827|744914|753550|753551|769278|775864|784456|784458|784460|820515|820516|820517|840220|840221|851957|870290|870291|870292|870293|870294|870295|870296|870297|870298|870299|870300|870301|870302|870303|870304|870305|870306|870307|870308|870309|870310|870311|870312|870313|870314|872284|926720|948138|960791|964398", "text": "Mucopolysaccharidosis, MPS-III-D" }, { - "baseId": "17976|17977|17978|17979|17980|227217|281164|281168|281174|281176|281186|281188|281192|281772|281783|281785|281786|281787|281792|281795|281796|281803|282967|282968|282998|283001|283002|283003|283030|283034|283036|283048|283049|283264|283272|283273|283276|353108|620013|620727|620728|864795|864796|864797|864798|864799|864800|864801|864802|864803|864804|864805|864806|864807|864808|864809|865208|865209", + "upstreamId": "17976|17977|17978|17979|17980|227217|281164|281168|281174|281176|281186|281188|281192|281772|281783|281785|281786|281787|281792|281795|281796|281803|282967|282968|282998|283001|283002|283003|283030|283034|283036|283048|283049|283264|283272|283273|283276|353108|620013|620727|620728|864795|864796|864797|864798|864799|864800|864801|864802|864803|864804|864805|864806|864807|864808|864809|865208|865209", "text": "Cystathioninuria" }, { - "baseId": "17980", + "upstreamId": "17980", "text": "Homocysteine, total plasma, elevated" }, { - "baseId": "17981|17983|190532|190533|192452|268079|298640|298641|298653|298655|298656|298664|298666|298667|298669|298676|298677|298682|298684|301041|301043|301045|301047|301050|301052|301054|301056|301061|301076|301078|301085|301086|301093|301095|301096|301105|301117|301120|301121|305473|305488|305489|305510|305517|305520|305521|305525|305528|305529|305531|305533|305596|305597|305598|305604|305620|305622|305628|305629|305631|305637|305638|481434|584809|620207|710102|721629|779128|790573|895151|895152|895153|895154|895155|895156|895157|895158|895159|895160|895161|895162|895163|895164|895165|895166|895167|895168|895169|895170|895171|895172|895173|895174|895175|895176|895177|895178", + "upstreamId": "17981|17983|190532|190533|192452|268079|298640|298641|298653|298655|298656|298664|298666|298667|298669|298676|298677|298682|298684|301041|301043|301045|301047|301050|301052|301054|301056|301061|301076|301078|301085|301086|301093|301095|301096|301105|301117|301120|301121|305473|305488|305489|305510|305517|305520|305521|305525|305528|305529|305531|305533|305596|305597|305598|305604|305620|305622|305628|305629|305631|305637|305638|481434|584809|620207|710102|721629|779128|790573|895151|895152|895153|895154|895155|895156|895157|895158|895159|895160|895161|895162|895163|895164|895165|895166|895167|895168|895169|895170|895171|895172|895173|895174|895175|895176|895177|895178", "text": "Osteopetrosis, autosomal recessive 5" }, { - "baseId": "17984|106438|177729|268041|271289|364010|512960|626265|727570|846508", + "upstreamId": "17984|106438|177729|268041|271289|364010|512960|626265|727570|846508", "text": "Retinitis pigmentosa 30" }, { - "baseId": 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+ "upstreamId": 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"text": "Macular degeneration" }, { - "baseId": "17985|17986|17987|17988|17989|17990|17991|102073|102077|102078|102081|102084|102085|102086|102088|102089|152915|177420|181491|244142|361967|424665|429938|429944|429948|481322|513464|577616|580293|611446|613831|614034|622441|788905|791682|798711|919710|919711|919712|961333|961628|964469|964470|971069|971070", + "upstreamId": "17985|17986|17987|17988|17989|17990|17991|102073|102077|102078|102081|102084|102085|102086|102088|102089|152915|177420|181491|244142|361967|424665|429938|429944|429948|481322|513464|577616|580293|611446|613831|614034|622441|788905|791682|798711|919710|919711|919712|961333|961628|964469|964470|971069|971070", "text": "Smith-Magenis syndrome" }, { - "baseId": "17992|553276|614644|626139|626140|918855", + "upstreamId": "17992|553276|614644|626139|626140|918855", "text": "Spinocerebellar ataxia 7" }, { - "baseId": 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+ "upstreamId": 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"text": "Hereditary xanthinuria type 1" }, { - "baseId": 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+ "upstreamId": 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"text": "Niemann-Pick disease type C1" }, { - "baseId": "17997|18005|18006|18008|18012|23516|23519|34307|179794|179798|187022|187023|187024|187026|187031|191973|260201|321300|330843|330861|330871|339032|341146|341147|346676|346683|346701|346703|346708|347945|347983|358544|358545|410330|480509|487967|495854|497495|572547|621868|654839|654840|905956", + "upstreamId": "17997|18005|18006|18008|18012|23516|23519|34307|179794|179798|187022|187023|187024|187026|187031|191973|260201|321300|330843|330861|330871|339032|341146|341147|346676|346683|346701|346703|346708|347945|347983|358544|358545|410330|480509|487967|495854|497495|572547|621868|654839|654840|905956", "text": "Niemann-Pick disease, type C" }, { - "baseId": "17999", + "upstreamId": "17999", "text": "Niemann-Pick disease, type D" }, { - "baseId": "18001|18002", + "upstreamId": "18001|18002", "text": "Niemann-Pick disease, type C1, adult form" }, { - "baseId": "18003|18004|272074|548561", + "upstreamId": "18003|18004|272074|548561", "text": "Niemann-Pick disease, type C1, juvenile form" }, { - "baseId": 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+ "upstreamId": 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"text": "Niemann-Pick disease, type A" }, { - "baseId": "18019|18021|18023|18026|18027|18028|18029|18030|18031|18032|18033|18034|99217|99219|99222|99225|99227|106596|177005|177267|178086|186824|186825|186827|186828|192246|192247|195254|195255|195256|199815|199816|199817|199818|199819|199820|199841|254227|265222|265942|266123|269654|271133|271270|272309|272310|274185|274208|275339|275438|314491|314496|321155|327239|357979|357983|357985|357986|357987|357990|357991|357994|372490|390057|439104|461245|488247|488281|488336|490008|491917|526551|546070|546338|546361|564786|588679|589470|640227|640229|712981|738090|768539|974500|974501|979016|979017|979018|979019|979020|979021|979022|979023|979024|979025", + "upstreamId": "18019|18021|18023|18026|18027|18028|18029|18030|18031|18032|18033|18034|99217|99219|99222|99225|99227|106596|177005|177267|178086|186824|186825|186827|186828|192246|192247|195254|195255|195256|199815|199816|199817|199818|199819|199820|199841|254227|265222|265942|266123|269654|271133|271270|272309|272310|274185|274208|275339|275438|314491|314496|321155|327239|357979|357983|357985|357986|357987|357990|357991|357994|372490|390057|439104|461245|488247|488281|488336|490008|491917|526551|546070|546338|546361|564786|588679|589470|640227|640229|712981|738090|768539|974500|974501|979016|979017|979018|979019|979020|979021|979022|979023|979024|979025", "text": "Sphingomyelin/cholesterol lipidosis" }, { - "baseId": 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+ "upstreamId": "18019|18019|18022|18026|18027|18028|18029|18029|18030|18031|18031|18032|18032|18033|18033|99217|99220|99222|99225|99225|99227|99227|99229|106596|177005|177267|177267|178085|178086|178086|186823|186823|186824|186825|186827|186828|190279|190280|192246|192247|192247|192248|192252|194320|195253|195254|195254|195255|195256|199816|236951|237172|254227|254228|265222|265283|265566|265942|266123|267144|269654|269655|270485|271133|271270|272309|272310|274117|274185|274186|275339|314491|314499|314500|321148|321155|327239|357977|357981|357983|357983|357985|357987|357990|372490|390057|439104|461245|462081|488718|489451|490008|491917|493996|526300|526543|526551|526556|546349|546361|546483|546513|564786|565935|584116|584233|584496|587377|588679|588868|589157|589470|621364|640225|640226|640227|640228|640229|640230|712980|712981|724549|724550|738090|752750|752751|768527|768529|768530|768532|768534|768538|768539|784046|784047|784049|784050|787800|801697|801699|801701|838668|838669|838670|838671|838672|868211|868213|906130|926307|926308|935648|947548|956559|956560|956561|956562|956563|956564|956565|956566|980612|980613|980614|980615|980616|980617|980618|980619|980620|980621|980622|980623|980624|980625|980626|980627|980628|980629|980630|980631|980632|980633|980634|980635|980636|980637|980638|980639|980640|980641|980642|980643|980644|980645|980646|980647|980648|980649|980650|980651", "text": "Niemann-Pick disease, type B" }, { - "baseId": "18030|18033", + "upstreamId": "18030|18033", "text": "Niemann-pick disease, intermediate, protracted neurovisceral" }, { - "baseId": "18036|18037|18038|18039|18040|18041|18042|18043|18044|18045|18046|30959|77042|77048|328379|328380|328381|328390|328391|328392|328394|328400|328401|328406|338312|338313|338318|338320|338322|338327|338330|338334|338340|344384|344385|344394|344395|344396|344399|344405|344406|344409|344410|344411|344412|344413|344414|345817|345824|345825|345827|345828|578544|620884|877420|877421|877422|877423|877424|877425|877426|877427|877428|877429|877430|877431|877432|877433|877434|877435|877436|877437|877438|877439|877440|877441|877442|877443|877444|877445|877446|877447|877448|877449|877450|880514|964477", + "upstreamId": "18036|18037|18038|18039|18040|18041|18042|18043|18044|18045|18046|30959|77042|77048|328379|328380|328381|328390|328391|328392|328394|328400|328401|328406|338312|338313|338318|338320|338322|338327|338330|338334|338340|344384|344385|344394|344395|344396|344399|344405|344406|344409|344410|344411|344412|344413|344414|345817|345824|345825|345827|345828|578544|620884|877420|877421|877422|877423|877424|877425|877426|877427|877428|877429|877430|877431|877432|877433|877434|877435|877436|877437|877438|877439|877440|877441|877442|877443|877444|877445|877446|877447|877448|877449|877450|880514|964477", "text": "Epidermolytic palmoplantar keratoderma" }, { - "baseId": "18036|18047|18048", + "upstreamId": "18036|18047|18048", "text": "Palmoplantar keratoderma, epidermolytic, with knuckle pads" }, { - "baseId": "18036|165961|360835|360981", + "upstreamId": "18036|165961|360835|360981", "text": "Palmoplantar keratoderma" }, { - "baseId": "18049|18050|18051|18052|18053|45840|45842|48409|48410|48411|48412|102250|102251|102252|102253|102254|102255|102256|152880|177788|177789|177790|190649|190650|253502|253503|253504|253506|253507|308009|308013|308015|308019|308020|308024|308026|308027|308032|308065|308069|308070|312355|312358|312359|312361|312364|312429|318130|318131|318134|318138|318144|318632|318645|318646|318653|318746|489728|620327|623984|700970|737096|767373|801415|836026|901800|901801|901802|901803|901804|901805|901806|901807|901808|901809|901810|901811|901812|901813|901814|901815|901817|901818|901820|901821|901822|901823|901825|901826|901827|901828|901829|901830|901832|901845|901846|901847|901848|901849|903383|966597|970911", + "upstreamId": "18049|18050|18051|18052|18053|45840|45842|48409|48410|48411|48412|102250|102251|102252|102253|102254|102255|102256|152880|177788|177789|177790|190649|190650|253502|253503|253504|253506|253507|308009|308013|308015|308019|308020|308024|308026|308027|308032|308065|308069|308070|312355|312358|312359|312361|312364|312429|318130|318131|318134|318138|318144|318632|318645|318646|318653|318746|489728|620327|623984|700970|737096|767373|801415|836026|901800|901801|901802|901803|901804|901805|901806|901807|901808|901809|901810|901811|901812|901813|901814|901815|901817|901818|901820|901821|901822|901823|901825|901826|901827|901828|901829|901830|901832|901845|901846|901847|901848|901849|903383|966597|970911", "text": "Cone dystrophy with supernormal rod response" }, { - "baseId": "18054|18056|39637|171804|177353|177514|186020|212352|214071|251316|271205|292180|292181|292184|292189|292191|293616|293619|293626|293627|293628|293629|293630|296934|296936|296941|296942|296946|296947|296954|296955|296956|296957|296958|296959|296961|296962|296968|362073|428269|453712|513267|513268|519717|620146|792743|800353|828723|828724|890064|890065|890066|890067|890068|890069|890070|890071|890072|890073|890074|890075|890076|891748|891749|903531|906237|906238|970783", + "upstreamId": "18054|18056|39637|171804|177353|177514|186020|212352|214071|251316|271205|292180|292181|292184|292189|292191|293616|293619|293626|293627|293628|293629|293630|296934|296936|296941|296942|296946|296947|296954|296955|296956|296957|296958|296959|296961|296962|296968|362073|428269|453712|513267|513268|519717|620146|792743|800353|828723|828724|890064|890065|890066|890067|890068|890069|890070|890071|890072|890073|890074|890075|890076|891748|891749|903531|906237|906238|970783", "text": "Bardet-Biedl syndrome 7" }, { - "baseId": "18055", + "upstreamId": "18055", "text": "Bardet-Biedl syndrome 1/7, digenic" }, { - "baseId": 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"text": "Ataxia-telangiectasia syndrome" }, { - "baseId": "18058|18062|18065|18081", + "upstreamId": "18058|18062|18065|18081", "text": "T-cell prolymphocytic leukemia" }, { - "baseId": 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"text": "Breast neoplasm" }, { - "baseId": "18060|18061|18062|18084|18086|48348", + "upstreamId": "18060|18061|18062|18084|18086|48348", "text": "Ataxia-telangiectasia variant" }, { - "baseId": "18066", + "upstreamId": "18066", "text": "B-cell non-Hodgkin lymphoma" }, { - "baseId": "18067|18068", + "upstreamId": "18067|18068", "text": "Ataxia-telangiectasia without immunodeficiency" }, { - "baseId": 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"text": "Breast and/or ovarian cancer" }, { - "baseId": "18078|18079|18080", + "upstreamId": "18078|18079|18080", "text": "Mantle cell lymphoma" }, { - "baseId": 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"text": "Hereditary breast and ovarian cancer syndrome" }, { - "baseId": "18088|18106|18108|18118|18127", + "upstreamId": "18088|18106|18108|18118|18127", "text": "Arylsulfatase A pseudodeficiency" }, { - "baseId": "18089", + "upstreamId": "18089", "text": "ARYLSULFATASE A POLYMORPHISM" }, { - "baseId": "18090|18091|18096|18097|18133", + "upstreamId": "18090|18091|18096|18097|18133", "text": "Metachromatic leukodystrophy, juvenile type" }, { - "baseId": "18090|18091|18092|18096|18128|18129|18131", + "upstreamId": "18090|18091|18092|18096|18128|18129|18131", "text": "Metachromatic leukodystrophy, adult type" }, { - "baseId": "18091", + "upstreamId": "18091", "text": "Arylsulfatase a, allele a" }, { - "baseId": "18093|18094|18095|18099|18130|18132", + "upstreamId": "18093|18094|18095|18099|18130|18132", "text": "Metachromatic leukodystrophy, late infantile" }, { - "baseId": "18099", + "upstreamId": "18099", "text": "Pseudoarylsulfatase A deficiency" }, { - "baseId": "18100|18101|18103|18113|18114|18115|18117|18119|18120", + "upstreamId": "18100|18101|18103|18113|18114|18115|18117|18119|18120", "text": "Metachromatic leukodystrophy, severe" }, { - "baseId": "18119|181427|197521|361079|361392|590049|614156|677052|677053|677054|682863|682863", + "upstreamId": "18119|181427|197521|361079|361392|590049|614156|677052|677053|677054|682863|682863", "text": "Leukodystrophy" }, { - "baseId": "18121|18126", + "upstreamId": "18121|18126", "text": "Metachromatic leukodystrophy, mild" }, { - "baseId": "18122", + "upstreamId": "18122", "text": "Arylsulfatase a pseudodeficiency, severe" }, { - "baseId": "18123", + "upstreamId": "18123", "text": "Arylsulfatase a pseudodeficiency, intermediate" }, { - "baseId": 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+ "upstreamId": 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"text": "Vitamin B12-responsive methylmalonic acidemia type cblB" }, { - "baseId": 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"text": "Progressive myoclonic epilepsy" }, { - "baseId": "18147", + "upstreamId": "18147", "text": "Inflammatory bowel disease 17, protection against" }, { - "baseId": "18147", + "upstreamId": "18147", "text": "Psoriasis, protection against" }, { - "baseId": "18148|57046|57047|57048|57049|175382|175526|175530|195778|227348|230251|315655|315659|315661|315662|315669|315671|315678|315682|315683|315688|315690|315698|315699|322494|322498|322520|322536|322537|322563|322591|328717|328740|328741|328748|328758|328759|329917|329934|329937|329938|329939|329947|329948|329949|444903|620838|869008|869009|869010|869011|869012|869013|869014|869015|869016|869017|869018|869019|869020|869021|869022|869023|869024|869025|869026|869027|869028|869029|869030|869031|869032|869033|869034|869035|869036|869037|872167", + "upstreamId": 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+ "upstreamId": 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"text": "Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type" }, { - "baseId": 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"text": "Long QT syndrome 1" }, { - "baseId": 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"text": "Congenital long QT syndrome" }, { - "baseId": 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"text": "Arrhythmia" }, { - "baseId": "18159|18189|29477|29480|67735|197175", + "upstreamId": "18159|18189|29477|29480|67735|197175", "text": "Long QT syndrome 1/2, digenic" }, { - "baseId": "18165|29459|52852|78119|175694|384412|406276|419284|419285|419287|551407|961008|961009|980697|980712", + "upstreamId": "18165|29459|52852|78119|175694|384412|406276|419284|419285|419287|551407|961008|961009|980697|980712", "text": "Prolonged QT interval" }, { - "baseId": 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"18166|18167|18177|18178|18179|18179|18181|18183|28516|45099|45100|45101|51654|51655|51656|51658|51659|51660|51663|67614|67621|67633|67639|67648|67664|67666|67667|67672|67686|67689|67693|67713|67729|67737|67740|67740|67755|67761|67788|77916|77922|77923|77925|77926|77933|77934|77957|77958|77974|77974|78005|141704|141707|141709|141711|141712|141713|141715|174724|175699|175700|175702|175840|175841|197416|197473|197475|197488|197510|212927|241093|313786|313790|313816|313822|313826|313828|313829|313831|313834|319993|319999|320013|320015|320017|320018|320026|320030|320031|320032|326163|326180|326191|326209|326210|326211|326212|326218|327103|327131|327132|327133|327139|327142|327143|327152|327157|327158|362222|371355|398462|419283|424482|432231|461128|488172|508755|617858|752632|793392|867801|867802|867803|867804|867805|867806|867807|867808|867809|867810|867811|867812|868642|868643|868644|868645|868646|868647|967192|967193|971571", "text": "Jervell and Lange-Nielsen syndrome 1" }, { - "baseId": "18167|18170|18181|18183|18187|45099|45100|45101|51654|51655|51656|51658|51659|51660|51663|67621|67648|67664|67666|67689|67699|67755|67788|77916|77922|77923|77925|77926|77933|77934|77957|77958|77968|77974|77974|78005|141704|141707|141709|141711|141712|141713|141715|174724|175699|175700|175702|175840|175841|197416|197473|197475|197488|197510|212927|241093|313786|313790|313816|313822|313826|313828|313829|313831|313834|319993|319999|320013|320015|320017|320018|320026|320030|320031|320032|326163|326180|326191|326209|326210|326211|326212|326218|327103|327131|327132|327133|327139|327142|327143|327152|327157|327158|362405|371355|398462|419283|461128|589841|617858|752632|793392|867801|867802|867803|867804|867805|867806|867807|867808|867809|867810|867811|867812|868642|868643|868644|868645|868646|868647", + "upstreamId": 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"18167|18170|18181|18182|18183|45099|45100|45101|51654|51655|51656|51657|51658|51659|51660|51663|67621|67648|67664|67666|67689|67753|67755|67755|67788|77916|77922|77923|77925|77926|77933|77934|77957|77958|77974|77974|77990|78005|141704|141707|141709|141711|141712|141713|141715|174724|175699|175700|175702|175840|175841|197416|197473|197475|197488|212927|241093|313786|313790|313816|313822|313826|313828|313829|313831|313834|319993|319999|320013|320015|320017|320018|320026|320030|320031|320032|326163|326180|326191|326209|326210|326211|326212|326218|327103|327131|327132|327133|327139|327142|327143|327152|327157|327158|371355|398462|419283|461128|617858|752632|793392|867801|867802|867803|867804|867805|867806|867807|867808|867809|867810|867811|867812|868642|868643|868644|868645|868646|868647", + "upstreamId": "18167|18170|18181|18182|18183|45099|45100|45101|51654|51655|51656|51657|51658|51659|51660|51663|67621|67648|67664|67666|67689|67753|67755|67755|67788|77916|77922|77923|77925|77926|77933|77934|77957|77958|77974|77974|77990|78005|141704|141707|141709|141711|141712|141713|141715|174724|175699|175700|175702|175840|175841|197416|197473|197475|197488|212927|241093|313786|313790|313816|313822|313826|313828|313829|313831|313834|319993|319999|320013|320015|320017|320018|320026|320030|320031|320032|326163|326180|326191|326209|326210|326211|326212|326218|327103|327131|327132|327133|327139|327142|327143|327152|327157|327158|371355|398462|419283|461128|617858|752632|793392|867801|867802|867803|867804|867805|867806|867807|867808|867809|867810|867811|867812|868642|868643|868644|868645|868646|868647", "text": "Atrial fibrillation, familial, 3" }, { - "baseId": "18170|18171", + "upstreamId": "18170|18171", "text": "Long QT syndrome 1, recessive" }, { - "baseId": "18170|197510", + "upstreamId": "18170|197510", "text": "KCNQ1-Related Disorders" }, { - "baseId": "18170|33095|45266|51826|54147|54243|54559|78401|78495|78729|171059|172420|189195|189203|224541|228379|229722|241797|377844|402722|406912|453664|510938|621566|642269|672379|672397|672400|672417|672425|672431|851993|966401|966406|966432|966438|966462|966473|966499|966502", + "upstreamId": "18170|33095|45266|51826|54147|54243|54559|78401|78495|78729|171059|172420|189195|189203|224541|228379|229722|241797|377844|402722|406912|453664|510938|621566|642269|672379|672397|672400|672417|672425|672431|851993|966401|966406|966432|966438|966462|966473|966499|966502", "text": "Conduction disorder of the heart" }, { - "baseId": 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+ "upstreamId": 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"text": "Long QT syndrome 2" }, { - "baseId": "18181", + "upstreamId": "18181", "text": "Acquired susceptibility to long QT syndrome 1" }, { - "baseId": 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"text": "Beckwith-Wiedemann syndrome" }, { - "baseId": "18182|21094|23515|39000|39001|39002|39003|39004|39077|45426|55809|56175|56216|56430|56634|56797|56800|77968|77970|77990|78323|78513|78690|78758|78791|78886|78894|78906|141245|141530|174886|174893|188392|189264|400482|609143|679384|679390|679395|679396|679403|679406|965490|965581", + "upstreamId": "18182|21094|23515|39000|39001|39002|39003|39004|39077|45426|55809|56175|56216|56430|56634|56797|56800|77968|77970|77990|78323|78513|78690|78758|78791|78886|78894|78906|141245|141530|174886|174893|188392|189264|400482|609143|679384|679390|679395|679396|679403|679406|965490|965581", "text": "Atrial fibrillation" }, { - "baseId": 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+ "upstreamId": 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"text": "Weill-Marchesani syndrome 4" }, { - "baseId": 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+ "upstreamId": 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"text": "Vitamin B12-responsive methylmalonic acidemia type cblA" }, { - "baseId": "18200", + "upstreamId": "18200", "text": "Hypotrichosis 1" }, { - "baseId": "18201", + "upstreamId": "18201", "text": "Unipolar depression, susceptibility to" }, { - "baseId": "18202", + "upstreamId": "18202", "text": "Attention deficit-hyperactivity disorder 7" }, { - "baseId": "18203", + "upstreamId": "18203", "text": "Bipolar affective disorder, susceptibility to" }, { - "baseId": "18203|318423|318432|318433|318438|318445|318449|318453|326574|326576|326578|326588|326592|326600|326604|332793|332794|332804|332812|332816|332823|332824|334427|334430|334434|334454|334461|334463|334464|725273|870416|870417|870418|870421|870422|870423|870424|870425|870426|870427|872290|872291", + "upstreamId": "18203|318423|318432|318433|318438|318445|318449|318453|326574|326576|326578|326588|326592|326600|326604|332793|332794|332804|332812|332816|332823|332824|334427|334430|334434|334454|334461|334463|334464|725273|870416|870417|870418|870421|870422|870423|870424|870425|870426|870427|872290|872291", "text": "Tryptophan 5-monooxygenase deficiency" }, { - "baseId": 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+ "upstreamId": 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"text": "Congenital dyserythropoietic anemia, type I" }, { - "baseId": "18223|18224|18225|18226|18229|18230|18231|191263|196043|268075|268448|271762|274992|331416|331417|331418|331420|331425|331426|331428|331429|331434|341735|341736|341740|341742|341748|341749|347094|347098|347099|347100|347101|347104|347110|347113|347115|347116|348420|348421|348425|348426|348427|348429|348430|348431|348433|348439|745219|801767|971103|980383", + "upstreamId": "18223|18224|18225|18226|18229|18230|18231|191263|196043|268075|268448|271762|274992|331416|331417|331418|331420|331425|331426|331428|331429|331434|341735|341736|341740|341742|341748|341749|347094|347098|347099|347100|347101|347104|347110|347113|347115|347116|348420|348421|348425|348426|348427|348429|348430|348431|348433|348439|745219|801767|971103|980383", "text": "Dyggve-Melchior-Clausen syndrome" }, { - "baseId": "18228|18232|196043|271762|274992|348421|348427|745219", + "upstreamId": "18228|18232|196043|271762|274992|348421|348427|745219", "text": "Smith-McCort dysplasia 1" }, { - "baseId": "18233|726755|726758|731091|740317|875844|875845|875846|875847|875848|875849|875850|875851|875852|875853|875854|875855|875856|875857|875858|875859|875860|875861|875862|875863|875864|875865|875866|875867|875868|875869|875870|876710|876711|876712|876713|876714|876715|876716", + "upstreamId": "18233|726755|726758|731091|740317|875844|875845|875846|875847|875848|875849|875850|875851|875852|875853|875854|875855|875856|875857|875858|875859|875860|875861|875862|875863|875864|875865|875866|875867|875868|875869|875870|876710|876711|876712|876713|876714|876715|876716", "text": "North american indian childhood cirrhosis" }, { - "baseId": "18234|18235|18235|18236|18237|34388|34389|34390|34390|34391|34392|34393|34394|34395|34396|34397|219162|259872|359661|424393|424394|424395|444151|539969|539970|539971|798587|798588|799087|799088|917739", + "upstreamId": "18234|18235|18235|18236|18237|34388|34389|34390|34390|34391|34392|34393|34394|34395|34396|34397|219162|259872|359661|424393|424394|424395|444151|539969|539970|539971|798587|798588|799087|799088|917739", "text": "Shwachman-Diamond syndrome 1" }, { - "baseId": "18235|29761", + "upstreamId": "18235|29761", "text": "Aplastic anemia, susceptibility to" }, { - "baseId": 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+ "upstreamId": "18235|24628|26378|26794|27037|28369|31377|31396|39135|49142|191253|191285|214736|225852|263345|263349|263350|263362|263372|271513|274206|360852|360853|361051|362158|362159|422029|424961|432334|444151|513922|514152|514161|514188|514195|590099|590815|590816|590817|590818|590819|590820|590821|590822|590823|590824|590825|590826|590827|590828|590829|590830|590831|590832|590833|590834|590835|590836|590837|590838|590839|590840|590841|590842|590843|590844|590845|590846|590847|590848|590849|590850|590851|590852|590853|590854|590855|590856|590857|590858|590859|590860|590861|590862|590863|590864|590865|590866|590867|590868|590869|590870|590871|590872|590873|590874|590875|590876|590877|590878|590879|590880|590881|590882|590883|590884|590885|590886|590887|590888|590889|590890|590891|590892|590893|590894|590895|590896|590897|590898|590899|590900|590901|590902|590903|590904|590905|590906|590907|590908|590909|590910|590911|590912|590913|590914|590915|590916|590917|590918|590919|590920|590921|590922|590923|590924|590925|590926|590927|590928|590929|590930|590931|590932|590933|590934|590935|590936|590937|590938|590939|590940|590941|590942|609036|609079|625988|632104|679688|742154|789799|802087|811184|861055|861056|861144|904239|904355|906373|917759|961035|961911|964072|965543|970283|980554", "text": "Short stature" }, { - "baseId": "18235|171866|171867|171874|201030|444151", + "upstreamId": "18235|171866|171867|171874|201030|444151", "text": "Deeply set eye" }, { - "baseId": "18235|29701|30694|444151|513937|514003|578008|920542", + "upstreamId": "18235|29701|30694|444151|513937|514003|578008|920542", "text": "Splenomegaly" }, { - "baseId": "18235|444151", + "upstreamId": "18235|444151", "text": "Agenesis of permanent teeth" }, { - "baseId": 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"18235|21985|22362|22363|22364|27768|27769|27770|27771|27772|28758|28759|34390|47528|47713|47715|47720|47722|47724|47725|47726|47727|47731|47732|47887|47889|47890|47893|47895|47896|47897|47900|47902|116904|132522|132527|133309|133320|133322|133328|133329|133330|133331|150860|152273|173541|173543|173678|180277|180279|180298|182874|182897|188057|207165|221794|229237|229238|229239|229240|233702|239625|239629|239631|239634|239640|239641|239643|239645|239663|239675|251613|251614|251640|263518|295008|295009|295015|295110|295271|296781|296915|296945|300499|300506|300507|300508|300575|300731|300771|300775|300921|318362|318365|326480|326482|332736|332738|332744|334359|334360|334364|395064|395070|454179|454310|454390|455105|455107|458623|458714|474812|520445|521005|525349|564457|614326|620457|632878|639123|830021|870370|870371|870372|870373|870374|870375|872287|892690|892691|892692|892693|892694|892695|892732|892816|892865|892866|892867|892868|892869|966333", "text": "Aplastic anemia" }, { - "baseId": "18235", + "upstreamId": "18235", "text": "Shwachman syndrome" }, { - "baseId": "18238|18239|18240|18241|18242|18244|18245|18251|18253|18254|18255", + "upstreamId": "18238|18239|18240|18241|18242|18244|18245|18251|18253|18254|18255", "text": "Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A4" }, { - "baseId": 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"text": "Walker-Warburg congenital muscular dystrophy" }, { - "baseId": "18242|18243|18246|18247|18252|99427|227329|267706|270708|444327|487362|490975", + "upstreamId": "18242|18243|18246|18247|18252|99427|227329|267706|270708|444327|487362|490975", "text": "Limb-girdle muscular dystrophy-dystroglycanopathy, type C4" }, { - "baseId": 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+ "upstreamId": 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"text": "Fukuyama congenital muscular dystrophy" }, { - "baseId": "18242", + "upstreamId": "18242", "text": "FKTN-Related Disorders" }, { - "baseId": "18243|18260|18277|18278|18279|18280|18291|18293|18294|19259|19260|101064|101354|101358|101366|101368|101370|101440|135452|169759|172243|181432|192127|207637|207638|209351|243357|266484|267706|269411|270072|270708|271145|273031|273802|273959|403314|438420|444327|458920|458925|468910|487362|490975|493648|572942|573399|623149|679729|789374|920265|961646|970897", + "upstreamId": "18243|18260|18277|18278|18279|18280|18291|18293|18294|19259|19260|101064|101354|101358|101366|101368|101370|101440|135452|169759|172243|181432|192127|207637|207638|209351|243357|266484|267706|269411|270072|270708|271145|273031|273802|273959|403314|438420|444327|458920|458925|468910|487362|490975|493648|572942|573399|623149|679729|789374|920265|961646|970897", "text": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1" }, { - "baseId": "18247|18256|99427|227329|267706|270708|444327|487362|490975", + "upstreamId": "18247|18256|99427|227329|267706|270708|444327|487362|490975", "text": "Congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B4" }, { - "baseId": 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+ "upstreamId": 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"text": "Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2" }, { - "baseId": "18258|18260|18260|18260|18261|18262|18263|18263|18264|18267|18268|18270|18273|90519|101434|101440|101440|101441|101442|101444|135460|135462|142489|142491|172251|177619|191249|191410|191563|191811|192026|192127|192127|192128|194956|208125|208127|255075|266224|266480|266641|266684|267076|267270|267346|267714|268226|268293|268687|269207|269304|269387|269459|272179|272998|273355|273831|273920|274002|274442|330790|330792|337437|337445|373193|421995|429591|441683|441684|445254|445255|445256|463515|463517|463531|464142|464147|464150|464399|464401|464525|464527|464533|489095|491600|493925|505548|528311|528315|528385|528387|528770|528773|528775|528850|536875|566635|566641|566642|566653|566657|566658|566661|566666|566667|568306|568311|568313|568314|568318|569041|569046|572930|572932|572933|572942|572942|572943|578516|583398|586245|589116|622905|642739|642740|642741|642742|642743|642744|642745|642746|642747|642748|642749|642750|642751|642752|642753|642754|642755|652981|672092|693602|693603|693604|693606|760116|778216|797076|841845|841846|841847|841848|841849|841850|841851|841852|841853|841854|841855|841856|851589|927181|927182|927183|927184|927185|927186|927187|936750|936751|936752|936753|936754|941068|941069|948703|948704|948705|948706|948707|957320|957321|957322|957323", + "upstreamId": "18258|18260|18260|18260|18261|18262|18263|18263|18264|18267|18268|18270|18273|90519|101434|101440|101440|101441|101442|101444|135460|135462|142489|142491|172251|177619|191249|191410|191563|191811|192026|192127|192127|192128|194956|208125|208127|255075|266224|266480|266641|266684|267076|267270|267346|267714|268226|268293|268687|269207|269304|269387|269459|272179|272998|273355|273831|273920|274002|274442|330790|330792|337437|337445|373193|421995|429591|441683|441684|445254|445255|445256|463515|463517|463531|464142|464147|464150|464399|464401|464525|464527|464533|489095|491600|493925|505548|528311|528315|528385|528387|528770|528773|528775|528850|536875|566635|566641|566642|566653|566657|566658|566661|566666|566667|568306|568311|568313|568314|568318|569041|569046|572930|572932|572933|572942|572942|572943|578516|583398|586245|589116|622905|642739|642740|642741|642742|642743|642744|642745|642746|642747|642748|642749|642750|642751|642752|642753|642754|642755|652981|672092|693602|693603|693604|693606|760116|778216|797076|841845|841846|841847|841848|841849|841850|841851|841852|841853|841854|841855|841856|851589|927181|927182|927183|927184|927185|927186|927187|936750|936751|936752|936753|936754|941068|941069|948703|948704|948705|948706|948707|957320|957321|957322|957323", "text": "Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2" }, { - "baseId": 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+ "upstreamId": "18258|18260|18260|18263|18264|18268|18268|18269|90519|101434|101435|101436|101440|101440|101440|101441|101442|101444|135460|135461|135462|135462|135463|142489|142491|142491|172251|172251|177619|177619|191249|191410|191410|191563|191811|191811|192026|192026|192127|192127|192128|194956|194956|195714|208125|208125|208127|255074|255075|255075|266224|266480|266641|266641|266684|267076|267270|267346|267714|268226|268293|268687|269207|269304|269387|269459|272179|272998|273355|273831|273920|274002|274442|321465|321472|321473|321479|321481|321482|321484|321488|321492|321493|321498|321502|321504|321505|321512|330734|330742|330747|330754|330756|330764|330773|330782|330784|330790|330790|330792|330792|330795|330799|330803|337383|337386|337387|337398|337406|337416|337418|337426|337437|337437|337438|337445|337445|337448|339411|339416|339428|339431|339432|339435|339442|339447|339449|339450|339451|339458|339461|339468|339470|339471|339472|339481|373193|421995|421995|429591|441683|441684|445254|445255|445256|463515|463517|463531|464142|464147|464150|464399|464401|464525|464527|464533|489095|491600|493925|493925|505548|528311|528315|528385|528387|528770|528773|528775|528850|536875|566635|566641|566642|566653|566657|566658|566661|566666|566667|568306|568311|568313|568314|568318|569041|569046|572930|572932|572933|572942|572942|572943|578516|583398|586245|589116|620494|642739|642740|642741|642742|642743|642743|642744|642745|642746|642747|642748|642749|642750|642751|642752|642753|642754|642755|652981|672092|693602|693603|693604|693606|760116|778216|797076|802194|841845|841846|841847|841848|841849|841850|841851|841852|841853|841854|841855|841856|851589|872716|872717|872718|872719|872720|872721|872722|872723|872724|872725|872726|872727|872728|872729|872730|872731|872732|872733|872734|872735|872736|872737|872738|872739|872740|872741|872742|872743|872744|872745|872746|872747|872748|872749|872750|872751|876454|876455|876456|876457|927181|927182|927183|927184|927185|927186|927187|936750|936751|936752|936753|936754|941068|941069|948703|948704|948705|948706|948707|957320|957321|957322|957323", "text": "Limb-girdle muscular dystrophy-dystroglycanopathy, type C2" }, { - "baseId": "18260|19274|19531|22745|29517|29534|29564|32660|32660|32660|39363|45812|55854|75127|77662|77669|77828|100211|169757|169759|171246|198685|206864|208124|208126|227736|231238|244072|260934|265299|267026|269979|360820|360828|361070|402756|427644|427646|427648|427649|427651|427652|427654|427656|431009|486836|497353|513914|514134|624113|676965|677274|801165|918201|977393", + "upstreamId": "18260|19274|19531|22745|29517|29534|29564|32660|32660|32660|39363|45812|55854|75127|77662|77669|77828|100211|169757|169759|171246|198685|206864|208124|208126|227736|231238|244072|260934|265299|267026|269979|360820|360828|361070|402756|427644|427646|427648|427649|427651|427652|427654|427656|431009|486836|497353|513914|514134|624113|676965|677274|801165|918201|977393", "text": "Muscular dystrophy" }, { - "baseId": "18276|142384|142386|142388|142390|211449|211454|211455|310102|310104|310108|315164|315174|315176|315186|315191|321181|321183|321197|321751|321752|321754|321756|321769|362103|362104|503326|620360|701300|865753|865754|865755|865756|865757|865758|865759|865760", + "upstreamId": "18276|142384|142386|142388|142390|211449|211454|211455|310102|310104|310108|315164|315174|315176|315186|315191|321181|321183|321197|321751|321752|321754|321756|321769|362103|362104|503326|620360|701300|865753|865754|865755|865756|865757|865758|865759|865760", "text": "Coenzyme Q10 deficiency, primary, 2" }, { - "baseId": "18281|18283|18284|18285|18287|18288|18289|18290", + "upstreamId": "18281|18283|18284|18285|18287|18288|18289|18290", "text": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1" }, { - "baseId": 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+ "upstreamId": 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"text": "Limb-girdle muscular dystrophy-dystroglycanopathy, type C1" }, { - "baseId": 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+ "upstreamId": 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"text": "Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B1" }, { - "baseId": "18294|619935", + "upstreamId": "18294|619935", "text": "POMT1-Related Disorders" }, { - "baseId": "18295|18296|174227|191826|191932|195729|221701|229603|239953|240084|252826|252829|252833|252836|395644|395653|395883|396007|396300|396302|457167|457169|457350|457354|457775|457778|522655|522665|522667|522672|522673|522920|523089|523091|523300|561597|561599|561601|561607|561608|561946|561948|564295|564297|564308|636146|636147|636148|636149|636150|636151|636152|636153|683892|683895|683896|683897|685221|687049|687051|687052|687053|766266|833595|833596|833597|833598|833599|833600|933887|933888|940878|945631|945632|945633|945634|945635|955158", + "upstreamId": "18295|18296|174227|191826|191932|195729|221701|229603|239953|240084|252826|252829|252833|252836|395644|395653|395883|396007|396300|396302|457167|457169|457350|457354|457775|457778|522655|522665|522667|522672|522673|522920|523089|523091|523300|561597|561599|561601|561607|561608|561946|561948|564295|564297|564308|636146|636147|636148|636149|636150|636151|636152|636153|683892|683895|683896|683897|685221|687049|687051|687052|687053|766266|833595|833596|833597|833598|833599|833600|933887|933888|940878|945631|945632|945633|945634|945635|955158", "text": "Ciliary dyskinesia, primary, 6" }, { - "baseId": "18297|18304|91653|330763|330772|330774|330776|330786|330791|330797|330811|340979|340993|340997|341002|341011|341014|341016|346288|346574|346595|347885|347899|347903|347907|347916|347925|353478|353479|437708|485783|485784|485785|485786|485787|485788|485789", + "upstreamId": "18297|18304|91653|330763|330772|330774|330776|330786|330791|330797|330811|340979|340993|340997|341002|341011|341014|341016|346288|346574|346595|347885|347899|347903|347907|347916|347925|353478|353479|437708|485783|485784|485785|485786|485787|485788|485789", "text": "Glucocorticoid Deficiency" }, { - "baseId": "18306|18307|18308|18309|18316|18318|34532|34533|221088|227841|238199|238203|238204|238205|238207|249584|270565|278143|278144|278145|278146|278147|278148|278154|278155|278156|278157|278159|278160|278162|278163|278164|278165|278166|278167|278168|278169|278170|278171|278172|278173|278174|278175|278177|278179|278183|278189|278190|279123|279128|279130|279143|279148|279149|279150|279151|279168|279171|279172|279174|279176|279177|279178|279182|279183|279288|279289|279290|279291|279292|279293|279296|279302|279303|279304|279305|279306|279307|279312|279313|279323|279334|279341|279350|279352|279355|390964|498135|550797|863087|863088|863089|863090|863091|863092|863093|863094|863095|863096|863097|863098|863099|863100|863101|863102|863103|863104|863105|863106|863107|863108|863109|863110|863111", + "upstreamId": 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+ "upstreamId": 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"text": "Parathyroid carcinoma" }, { - "baseId": "18309|18311|18315|31746|34532|221088|238199|238203|238204|238205|238207|249584|278143|278144|278145|278146|278147|278148|278154|278155|278156|278157|278159|278160|278162|278163|278164|278165|278167|278168|278169|278170|278171|278172|278173|278174|278177|278179|278183|278189|278190|279123|279128|279130|279143|279148|279149|279151|279168|279171|279172|279174|279176|279178|279182|279288|279289|279290|279291|279292|279293|279296|279303|279304|279305|279306|279307|279312|279313|279323|279334|279341|279350|279355|362383|390964|498135|550797|823082|863087|863088|863089|863090|863091|863092|863093|863094|863095|863096|863097|863098|863099|863100|863101|863102|863103|863104|863105|863106|863107|863108|863109|863110|863111", + "upstreamId": "18309|18311|18315|31746|34532|221088|238199|238203|238204|238205|238207|249584|278143|278144|278145|278146|278147|278148|278154|278155|278156|278157|278159|278160|278162|278163|278164|278165|278167|278168|278169|278170|278171|278172|278173|278174|278177|278179|278183|278189|278190|279123|279128|279130|279143|279148|279149|279151|279168|279171|279172|279174|279176|279178|279182|279288|279289|279290|279291|279292|279293|279296|279303|279304|279305|279306|279307|279312|279313|279323|279334|279341|279350|279355|362383|390964|498135|550797|823082|863087|863088|863089|863090|863091|863092|863093|863094|863095|863096|863097|863098|863099|863100|863101|863102|863103|863104|863105|863106|863107|863108|863109|863110|863111", "text": "Hyperparathyroidism 1" }, { - "baseId": "18312", + "upstreamId": "18312", "text": "Cystic parathyroid adenoma" }, { - "baseId": "18315|31728", + "upstreamId": "18315|31728", "text": "Parathyroid adenoma, somatic" }, { - "baseId": "18317|360845", + "upstreamId": "18317|360845", "text": "Parathyroid adenoma" }, { - "baseId": 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+ "upstreamId": 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"text": "Neurofibromatosis, type 2" }, { - "baseId": "18323|18324|22879|27637|622844|623015", + "upstreamId": "18323|18324|22879|27637|622844|623015", "text": "Meningioma" }, { - "baseId": "18337|18338|18339|23065|23067|23068|23069|23070|39158|131900|138996|243651|243652|243654|337610|337611|337626|347199|347201|347202|351195|351197|351200|351201|351204|352216|352217|352219|379825|403764|403825|403839|470130|534095|534181|574062|574080|626284|814999|890931|890932|890933|890934|890935|890936|890937|890938|890939|891811", + "upstreamId": "18337|18338|18339|23065|23067|23068|23069|23070|39158|131900|138996|243651|243652|243654|337610|337611|337626|347199|347201|347202|351195|351197|351200|351201|351204|352216|352217|352219|379825|403764|403825|403839|470130|534095|534181|574062|574080|626284|814999|890931|890932|890933|890934|890935|890936|890937|890938|890939|891811", "text": "Schwannomatosis 1" }, { - "baseId": "18340|18341|18342|18343|227256", + "upstreamId": "18340|18341|18342|18343|227256", "text": "Hypotrichosis 7" }, { - "baseId": "18342|18343|18344|18345|39626|227256", + "upstreamId": "18342|18343|18344|18345|39626|227256", "text": "Woolly hair, autosomal recessive 2, with or without hypotrichosis" }, { - "baseId": 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+ "upstreamId": 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"text": "Polyglandular autoimmune syndrome, type 1" }, { - "baseId": "18348|18354", + "upstreamId": "18348|18354", "text": "Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia" }, { - "baseId": "18352", + "upstreamId": "18352", "text": "Autoimmune polyglandular syndrome type 1, autosomal dominant" }, { - "baseId": "18357|18358|18359|18360|18361|18362|18363|18364|18365|18366|18367|18368|178178|192518|192520|192521|192522|192523|215781|257373|257376|265875|267619|270740|271079|271347|335795|335796|335799|335808|345499|345503|345508|350120|351165|351166|470471|491705|571309|575119|575120|585756|648776|648777|653103|694564|742464|848479|848480|848481|904881|919920|939010", + "upstreamId": "18357|18358|18359|18360|18361|18362|18363|18364|18365|18366|18367|18368|178178|192518|192520|192521|192522|192523|215781|257373|257376|265875|267619|270740|271079|271347|335795|335796|335799|335808|345499|345503|345508|350120|351165|351166|470471|491705|571309|575119|575120|585756|648776|648777|653103|694564|742464|848479|848480|848481|904881|919920|939010", "text": "Duane-radial ray syndrome" }, { - "baseId": "18369|613173|971150", + "upstreamId": "18369|613173|971150", "text": "IVIC syndrome" }, { - "baseId": "18371|203649|203656|203676|203679|363960|410787|446280|521089", + "upstreamId": "18371|203649|203656|203676|203679|363960|410787|446280|521089", "text": "Tobacco addiction, susceptibility to" }, { - "baseId": "18372|31801", + "upstreamId": "18372|31801", "text": "Nicotine dependence, protection against" }, { - "baseId": "18373|18374|177381|195456", + "upstreamId": "18373|18374|177381|195456", "text": "Retinitis pigmentosa 9" }, { - "baseId": "18375|18376|18377|18378|18379|18380|18381|18382|18383|18384|18385|18386|18387|18388|18390|85484|103278|103300|103306|103307|103309|103310|103311|286076|286077|286084|286097|286098|286103|286104|286113|286117|286118|286120|289134|289135|289136|289149|289161|289174|289485|289487|289495|359429|361962|390701|428054|434112|450852|450859|450861|450863|450986|451158|451161|451163|451173|485696|485697|485698|485699|485700|485701|485702|485703|485704|485705|485706|485707|518178|538628|538637|540523|540524|553315|558430|560619|613977|650798|818724|819019|884773|884774|884775|884776|884777|884778|884779|884780|884781|884782|884783|884784|884785|884786|884787|884788|884789|884790|906314|961421|961596|975669", + "upstreamId": "18375|18376|18377|18378|18379|18380|18381|18382|18383|18384|18385|18386|18387|18388|18390|85484|103278|103300|103306|103307|103309|103310|103311|286076|286077|286084|286097|286098|286103|286104|286113|286117|286118|286120|289134|289135|289136|289149|289161|289174|289485|289487|289495|359429|361962|390701|428054|434112|450852|450859|450861|450863|450986|451158|451161|451163|451173|485696|485697|485698|485699|485700|485701|485702|485703|485704|485705|485706|485707|518178|538628|538637|540523|540524|553315|558430|560619|613977|650798|818724|819019|884773|884774|884775|884776|884777|884778|884779|884780|884781|884782|884783|884784|884785|884786|884787|884788|884789|884790|906314|961421|961596|975669", "text": "3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency" }, { - "baseId": "18386", + "upstreamId": "18386", "text": "STEROID 5-ALPHA-REDUCTASE POLYMORPHISM" }, { - "baseId": "18389|18390|966614", + "upstreamId": "18389|18390|966614", "text": "Micropenis" }, { - "baseId": "18391|18392|18393|789839|800347|918553|920125|970488", + "upstreamId": "18391|18392|18393|789839|800347|918553|920125|970488", "text": "Retinitis pigmentosa 18" }, { - "baseId": "18394|18395|18396|18397|18398|39623|39624|337230|337234|337281|343449|343460|343488|345040|345046|345047|361007|537271|791677|791678|800001|800002|800003|800004|800005|800006|919705|919706|919707|919708", + "upstreamId": "18394|18395|18396|18397|18398|39623|39624|337230|337234|337281|343449|343460|343488|345040|345046|345047|361007|537271|791677|791678|800001|800002|800003|800004|800005|800006|919705|919706|919707|919708", "text": "Retinitis pigmentosa 13" }, { - "baseId": "18399|18400|18401", + "upstreamId": "18399|18400|18401", "text": "Retinitis pigmentosa 35" }, { - "baseId": "18399|18400|18401|101927|177056|191424|192532|249423|270752|276617|276618|276621|276622|276623|276624|276625|276627|276628|276629|276630|276631|276634|276635|276881|276882|276883|276888|276892|276893|276894|277463|277475|277477|277478|277540|277541|277551|277562|587547|696153|696154|718275|731767|731768|745740|794454|862424|862425|862426|862427|862428|862429|862430|862431|862432|862433|862434|862435|862436|862437|864996", + "upstreamId": "18399|18400|18401|101927|177056|191424|192532|249423|270752|276617|276618|276621|276622|276623|276624|276625|276627|276628|276629|276630|276631|276634|276635|276881|276882|276883|276888|276892|276893|276894|277463|277475|277477|277478|277540|277541|277551|277562|587547|696153|696154|718275|731767|731768|745740|794454|862424|862425|862426|862427|862428|862429|862430|862431|862432|862433|862434|862435|862436|862437|864996", "text": "Cone-rod dystrophy 10" }, { - "baseId": 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"text": "Multiple fibrofolliculomas" }, { - "baseId": "18402|18406|18409|18410|18411|18412|18414|18418|50295|50296|50302|91258|102362|102368|102379|102380|102383|102387|138162|138165|151439|171188|177708|184490|184494|235483|242608|242613|247653|256084|327429|327433|327434|327438|327442|327445|327448|327449|327454|327464|327465|327466|327467|337300|337305|337309|337316|337319|337320|337326|337327|337331|343533|343538|343546|343547|343554|343555|343556|343559|343560|343563|343564|343576|343577|343578|343580|343584|343586|343587|343588|343597|345088|345090|345094|345100|345101|345104|345106|345109|345110|401553|402305|467111|467177|467353|478542|530769|531169|621851|813009|813048|876878|876879|876880|876881|876882|876883|876884|876885|876886|876887|876888|876889|876890|876891", + "upstreamId": "18402|18406|18409|18410|18411|18412|18414|18418|50295|50296|50302|91258|102362|102368|102379|102380|102383|102387|138162|138165|151439|171188|177708|184490|184494|235483|242608|242613|247653|256084|327429|327433|327434|327438|327442|327445|327448|327449|327454|327464|327465|327466|327467|337300|337305|337309|337316|337319|337320|337326|337327|337331|343533|343538|343546|343547|343554|343555|343556|343559|343560|343563|343564|343576|343577|343578|343580|343584|343586|343587|343588|343597|345088|345090|345094|345100|345101|345104|345106|345109|345110|401553|402305|467111|467177|467353|478542|530769|531169|621851|813009|813048|876878|876879|876880|876881|876882|876883|876884|876885|876886|876887|876888|876889|876890|876891", "text": "Pneumothorax, primary spontaneous" }, { - "baseId": "18402|420622|623700", + "upstreamId": "18402|420622|623700", "text": "Birt-Hogg-Dub\u00e9 Syndrome" }, { - "baseId": "18407|27687|29987", + "upstreamId": "18407|27687|29987", "text": "Chromophobe renal cell carcinoma" }, { - "baseId": 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"text": "Ellis-van Creveld syndrome" }, { - "baseId": 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"text": "Curry-Hall syndrome" }, { - "baseId": "18422|20377|20379|39385|39386|48583|101405|101406|101407|191055|196284|205144|205144|260870|260871|260872|260876|260878|260883|267604|267965|272806|292774|292775|292776|292794|292797|292810|292816|292821|292826|294135|294139|294152|294153|294158|294160|294161|294162|294164|294165|294174|294181|294186|294206|294210|294212|294213|294214|294224|294225|294227|297588|297589|297590|297599|297600|297603|297604|297610|297619|297627|297691|297702|297709|297710|297711|297713|297729|297731|297740|297742|297743|297744|297757|297758|353902|393400|406421|425298|428289|440056|440060|440061|440065|440066|440069|440070|440076|440077|440078|440079|440080|440081|440082|440084|440100|440102|440103|440116|440197|440212|440218|453053|453343|453344|453827|500505|500796|520076|520146|536036|536038|561972|561972|561973|563590|609533|632088|632089|632090|655598|698430|720836|734517|734518|748806|828957|828958|890423|890424|890425|890426|890427|890428|890429|890430|890431|890432|890433|890434|890435|890436|890437|890438|890439|890440|890441|890442|890443|890444|890445|890446|890447|890448|890449|890450|890451|890452|890453|890454|890455|891771|891772|891773|891774|891775|891776|918887|918888|918889|923466|923467|932251|943900|943901", + "upstreamId": "18422|20377|20379|39385|39386|48583|101405|101406|101407|191055|196284|205144|205144|260870|260871|260872|260876|260878|260883|267604|267965|272806|292774|292775|292776|292794|292797|292810|292816|292821|292826|294135|294139|294152|294153|294158|294160|294161|294162|294164|294165|294174|294181|294186|294206|294210|294212|294213|294214|294224|294225|294227|297588|297589|297590|297599|297600|297603|297604|297610|297619|297627|297691|297702|297709|297710|297711|297713|297729|297731|297740|297742|297743|297744|297757|297758|353902|393400|406421|425298|428289|440056|440060|440061|440065|440066|440069|440070|440076|440077|440078|440079|440080|440081|440082|440084|440100|440102|440103|440116|440197|440212|440218|453053|453343|453344|453827|500505|500796|520076|520146|536036|536038|561972|561972|561973|563590|609533|632088|632089|632090|655598|698430|720836|734517|734518|748806|828957|828958|890423|890424|890425|890426|890427|890428|890429|890430|890431|890432|890433|890434|890435|890436|890437|890438|890439|890440|890441|890442|890443|890444|890445|890446|890447|890448|890449|890450|890451|890452|890453|890454|890455|891771|891772|891773|891774|891775|891776|918887|918888|918889|923466|923467|932251|943900|943901", "text": "Short rib-polydactyly syndrome, Majewski type" }, { - "baseId": "18428|18429|18430|18431|18432|18433|57120|57123|57124|57126|173795|173936|229093|271879|290706|290708|290712|291620|291622|294814|294815|294816|294823|294825|295225|295228|295242|889102|889103|889104|889105|889106|889107|889108|889109|889110|889111|889112|889113|889114|889115|889116", + "upstreamId": "18428|18429|18430|18431|18432|18433|57120|57123|57124|57126|173795|173936|229093|271879|290706|290708|290712|291620|291622|294814|294815|294816|294823|294825|295225|295228|295242|889102|889103|889104|889105|889106|889107|889108|889109|889110|889111|889112|889113|889114|889115|889116", "text": "Deafness, autosomal recessive 6" }, { - "baseId": "18434", + "upstreamId": "18434", "text": "Inflammatory bowel disease 14, susceptibility to" }, { - "baseId": "18434|18435|18436", + "upstreamId": "18434|18435|18436", "text": "Systemic lupus erythematosus 10" }, { - "baseId": "18435|19934|20788|23514|23948|24585|556475|569444|581729|581829|816330|961210|961211|961212|961213|961214|961215|961216|961217|980478", + "upstreamId": "18435|19934|20788|23514|23948|24585|556475|569444|581729|581829|816330|961210|961211|961212|961213|961214|961215|961216|961217|980478", "text": "Rheumatoid arthritis" }, { - "baseId": "18437", + "upstreamId": "18437", "text": "Systemic lupus erythematosus, association with susceptibility to, 10" }, { - "baseId": "18438|18439|18440|18441|18442|18444|101568|101569|101570|101571|101572|101574|101575|101576|101578|101579|101580|101582|101583|166179|176932|176932|177195|177610|177884|177885|188781|191062|191574|191822|191927|191928|192769|192771|192774|193193|193299|193632|193632|193792|212105|212108|221109|221110|221111|227216|237104|238338|238339|238340|238341|238342|249993|250002|250006|250008|250010|250011|265418|266814|267000|268051|268051|269236|271042|271044|271333|271488|272410|272772|272959|273564|274125|274311|275340|275394|275394|280972|280973|280976|280977|280978|280979|280984|280985|280985|280988|281526|281527|281535|281536|281550|281551|281556|281559|281564|281565|281570|281571|281572|281573|281583|281588|282746|282749|282757|282760|282761|282762|282765|282769|282770|282778|282780|282783|283011|283015|283017|283018|283019|283022|283024|283025|283026|283037|283038|283040|283041|283060|283071|283079|283085|283086|448220|448255|448260|448383|488677|491412|492399|492399|492789|493121|493144|493743|493743|494108|494158|515992|583704|584746|585392|586278|620008|683376|683377|683378|685820|818171|818172|818173|824285|864664|864665|864666|864667|864668|864669|864670|864671|864672|864673|864674|864675|864676|864677|864678|864679|864680|864681|864682|864683|865195|865196|952487|962670|962822|962823|962824", + "upstreamId": "18438|18439|18440|18441|18442|18444|101568|101569|101570|101571|101572|101574|101575|101576|101578|101579|101580|101582|101583|166179|176932|176932|177195|177610|177884|177885|188781|191062|191574|191822|191927|191928|192769|192771|192774|193193|193299|193632|193632|193792|212105|212108|221109|221110|221111|227216|237104|238338|238339|238340|238341|238342|249993|250002|250006|250008|250010|250011|265418|266814|267000|268051|268051|269236|271042|271044|271333|271488|272410|272772|272959|273564|274125|274311|275340|275394|275394|280972|280973|280976|280977|280978|280979|280984|280985|280985|280988|281526|281527|281535|281536|281550|281551|281556|281559|281564|281565|281570|281571|281572|281573|281583|281588|282746|282749|282757|282760|282761|282762|282765|282769|282770|282778|282780|282783|283011|283015|283017|283018|283019|283022|283024|283025|283026|283037|283038|283040|283041|283060|283071|283079|283085|283086|448220|448255|448260|448383|488677|491412|492399|492399|492789|493121|493144|493743|493743|494108|494158|515992|583704|584746|585392|586278|620008|683376|683377|683378|685820|818171|818172|818173|824285|864664|864665|864666|864667|864668|864669|864670|864671|864672|864673|864674|864675|864676|864677|864678|864679|864680|864681|864682|864683|865195|865196|952487|962670|962822|962823|962824", "text": "Nephronophthisis 4" }, { - "baseId": "18440", + "upstreamId": "18440", "text": "Cerebello-oculo-renal syndrome (nephronophthisis, oculomotor apraxia and cerebellar abnormalities)" }, { - "baseId": "18440|54320|861136", + "upstreamId": "18440|54320|861136", "text": "Infertility" }, { - "baseId": 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+ "upstreamId": "18443|18444|101568|101569|101570|101571|101574|101575|101576|101578|101579|101580|101582|101583|166179|176932|176932|177195|177610|177884|185958|188781|191062|191574|191822|191927|191928|192769|192771|192774|193193|193299|193632|193632|193792|212105|212108|221109|221110|221111|227216|237104|238338|238339|238340|238341|238342|249993|250002|250006|250008|250010|250011|265418|266814|267000|268051|268051|269236|271042|271044|271333|271488|272410|272772|272959|273564|274125|274311|275340|275394|275394|280972|280973|280976|280977|280978|280979|280984|280985|280985|280988|281526|281527|281535|281536|281550|281551|281556|281559|281564|281565|281570|281571|281572|281573|281583|281588|282746|282749|282757|282760|282761|282762|282765|282769|282770|282778|282780|282783|283011|283015|283017|283018|283019|283022|283024|283025|283026|283037|283038|283040|283041|283060|283071|283079|283085|283086|448220|448255|448260|448383|488677|490490|491412|492399|492789|493144|493743|493743|494108|494158|515992|583704|584746|585392|586278|620008|683376|683377|683378|685820|800349|824285|864664|864665|864666|864667|864668|864669|864670|864671|864672|864673|864674|864675|864676|864677|864678|864679|864680|864681|864682|864683|865195|865196|918643", "text": "Senior-Loken syndrome 4" }, { - "baseId": 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+ "upstreamId": "18445|94419|94420|94421|94422|307585|307587|307595|307597|307599|307600|307604|307607|307609|307611|311847|311853|311854|311860|311868|311870|311878|311880|317409|317410|317411|317413|317420|317424|317431|317440|317441|317455|317460|317462|317881|317889|317894|317896|317905|317906|317914|317934|458907|458912|459257|459259|459324|459326|524346|524349|524353|524360|524361|524447|524646|524667|524811|524818|524821|524950|524959|563027|563029|563031|563033|563781|565756|565757|565759|565761|565772|620325|624382|624383|638032|638033|638034|638035|638036|638037|638038|638039|638040|638041|638042|638043|638044|638045|638046|700891|711862|723453|723454|723455|737007|751549|767283|767284|779310|787795|835829|835830|835831|835832|835833|835834|835835|835836|835837|835838|835839|835840|835841|835842|835843|835844|835845|835846|835847|901517|901518|901519|901520|901521|901522|901523|901524|901525|901526|901527|901528|901529|901530|903351|903352|903353|925493|925494|925495|925496|925497|925498|925499|925500|934649|934650|934651|934652|934653|934654|946497|946498|946499|946500|946501|946502|946503|946504|946505|946506|955755", "text": "Candidiasis, familial, 2" }, { - "baseId": "18446|18447|18448|18449|48147|48149|48150|83245|213954|213955|256546|256549|264886|330548|330553|330556|330557|330560|330568|330569|330572|330575|330577|340789|340792|340795|340796|340799|340800|340802|340808|340810|340814|340815|340821|340824|346397|346398|346407|346409|346413|346421|346423|346424|346425|346426|346431|346432|346434|347740|347748|347757|347761|347765|347769|347771|378843|612325|620893|622254|727556|741196|878805|878806|878807|878808|878809|878810|878811|878812|878813|878814|878815|878816|878817|878818|878819|878820|878821|878822|880624|880625|880626|880627|880628|961341|971100|983336|983337|983338|983339|983340|983341|983342|983343|983344|983345|983346|983347|983348|983349|983350|983351|983352|983353|983354|983355|983356|983357|983358|983359|983360|983361|983362", + "upstreamId": "18446|18447|18448|18449|48147|48149|48150|83245|213954|213955|256546|256549|264886|330548|330553|330556|330557|330560|330568|330569|330572|330575|330577|340789|340792|340795|340796|340799|340800|340802|340808|340810|340814|340815|340821|340824|346397|346398|346407|346409|346413|346421|346423|346424|346425|346426|346431|346432|346434|347740|347748|347757|347761|347765|347769|347771|378843|612325|620893|622254|727556|741196|878805|878806|878807|878808|878809|878810|878811|878812|878813|878814|878815|878816|878817|878818|878819|878820|878821|878822|880624|880625|880626|880627|880628|961341|971100|983336|983337|983338|983339|983340|983341|983342|983343|983344|983345|983346|983347|983348|983349|983350|983351|983352|983353|983354|983355|983356|983357|983358|983359|983360|983361|983362", "text": "Autosomal recessive congenital ichthyosis 3" }, { - "baseId": "18450|18451|18453|18454|18454|18455|18456|18456|18457|18458|18458|18459|18460|18461|18462|39609|48590|48590|107258|214529|214529|249696|249696|249698|249699|249699|249701|249702|259649|278696|278697|278701|278704|278707|278710|278714|278714|278718|278718|278719|278726|278884|278885|278886|278887|278889|278890|278893|278894|278896|278908|278911|278912|278913|278913|278916|278917|280044|280045|280046|280047|280050|280052|280053|280054|280057|280058|280059|280060|280069|280070|280074|280086|280086|280087|280090|280160|280163|280168|280169|280171|280172|280173|280174|280175|353093|384611|442706|442706|447481|447486|447617|447621|447728|447730|447732|447734|447762|447762|447764|447771|488149|515460|515527|515530|515540|515570|550578|556782|556853|557145|558343|609015|627348|627349|627350|627351|627352|695024|696431|823304|823305|823306|823307|823308|823309|861039|863422|863423|863424|863425|863426|863427|863428|863429|863430|863431|863432|863433|863434|863435|863436|863437|863438|863439|863440|863441|863442|865106|865107|920552|920553|920554|930267|939794|941687|941688|952231|969768|983928", + "upstreamId": "18450|18451|18453|18454|18454|18455|18456|18456|18457|18458|18458|18459|18460|18461|18462|39609|48590|48590|107258|214529|214529|249696|249696|249698|249699|249699|249701|249702|259649|278696|278697|278701|278704|278707|278710|278714|278714|278718|278718|278719|278726|278884|278885|278886|278887|278889|278890|278893|278894|278896|278908|278911|278912|278913|278913|278916|278917|280044|280045|280046|280047|280050|280052|280053|280054|280057|280058|280059|280060|280069|280070|280074|280086|280086|280087|280090|280160|280163|280168|280169|280171|280172|280173|280174|280175|353093|384611|442706|442706|447481|447486|447617|447621|447728|447730|447732|447734|447762|447762|447764|447771|488149|515460|515527|515530|515540|515570|550578|556782|556853|557145|558343|609015|627348|627349|627350|627351|627352|695024|696431|823304|823305|823306|823307|823308|823309|861039|863422|863423|863424|863425|863426|863427|863428|863429|863430|863431|863432|863433|863434|863435|863436|863437|863438|863439|863440|863441|863442|865106|865107|920552|920553|920554|930267|939794|941687|941688|952231|969768|983928", "text": "Van der Woude syndrome" }, { - "baseId": "18452|18453|18453|18454|18454|18456|18458|18462|39609|39610|39611|48590|214529|249225|249696|249699|259649|278714|278718|278912|278913|280044|280086|280169|280171|346490|346491|350730|353093|442706|447481|447486|447728|447730|447734|447762|447764|515460|515527|515530|515540|515570|556782|556853|557145|558343|627348|627349|627350|627351|627352|695024|823304|823305|823306|823307|823308|823309|930267|939794|941687|941688|952231|964990", + "upstreamId": "18452|18453|18453|18454|18454|18456|18458|18462|39609|39610|39611|48590|214529|249225|249696|249699|259649|278714|278718|278912|278913|280044|280086|280169|280171|346490|346491|350730|353093|442706|447481|447486|447728|447730|447734|447762|447764|515460|515527|515530|515540|515570|556782|556853|557145|558343|627348|627349|627350|627351|627352|695024|823304|823305|823306|823307|823308|823309|930267|939794|941687|941688|952231|964990", "text": "Popliteal pterygium syndrome" }, { - "baseId": "18453|18454|18456|18458|48590|214529|249696|249696|249698|249699|249699|249701|259649|278696|278701|278704|278707|278710|278714|278714|278718|278718|278719|278884|278885|278886|278887|278889|278890|278893|278894|278896|278908|278911|278913|278913|278916|280045|280046|280047|280050|280052|280053|280054|280057|280058|280059|280060|280069|280070|280074|280086|280086|280087|280160|280163|280168|280172|280173|280174|280175|442706|447481|447486|447728|447730|447734|447762|447764|515460|515527|515530|515540|515570|556782|556853|557145|558343|627348|627349|627350|627351|627352|695024|696431|823304|823305|823306|823307|823308|823309|863422|863423|863424|863425|863426|863427|863428|863429|863430|863431|863432|863433|863434|863435|863436|863437|863438|863439|863440|863441|863442|865106|865107|930267|939794|941687|941688|952231|970008|970009|970010", + "upstreamId": "18453|18454|18456|18458|48590|214529|249696|249696|249698|249699|249699|249701|259649|278696|278701|278704|278707|278710|278714|278714|278718|278718|278719|278884|278885|278886|278887|278889|278890|278893|278894|278896|278908|278911|278913|278913|278916|280045|280046|280047|280050|280052|280053|280054|280057|280058|280059|280060|280069|280070|280074|280086|280086|280087|280160|280163|280168|280172|280173|280174|280175|442706|447481|447486|447728|447730|447734|447762|447764|515460|515527|515530|515540|515570|556782|556853|557145|558343|627348|627349|627350|627351|627352|695024|696431|823304|823305|823306|823307|823308|823309|863422|863423|863424|863425|863426|863427|863428|863429|863430|863431|863432|863433|863434|863435|863436|863437|863438|863439|863440|863441|863442|865106|865107|930267|939794|941687|941688|952231|970008|970009|970010", "text": "Orofacial cleft 6, susceptibility to" }, { - "baseId": "18463|193649|321711|321715|321717|321726|321727|321733|321740|321744|321745|321747|321748|330958|330972|330977|330978|330981|330985|330987|330989|330990|330995|331001|331002|331006|331007|331013|331016|337716|337722|337724|337733|337735|337741|337742|337747|337751|337758|337762|339746|339748|339750|339751|339756|339762|339772|590793|619926|620497|793519|793520|872880|872881|872882|872883|872884|872885|872886|872887|872888|872889|872890|872891|872892|872893|872894|872895|872896|872897|872898|872899|872900|872901|872902|872903|872904|872905|872906|872907|872908|872909|872910|872911|872912|876463", + "upstreamId": "18463|193649|321711|321715|321717|321726|321727|321733|321740|321744|321745|321747|321748|330958|330972|330977|330978|330981|330985|330987|330989|330990|330995|331001|331002|331006|331007|331013|331016|337716|337722|337724|337733|337735|337741|337742|337747|337751|337758|337762|339746|339748|339750|339751|339756|339762|339772|590793|619926|620497|793519|793520|872880|872881|872882|872883|872884|872885|872886|872887|872888|872889|872890|872891|872892|872893|872894|872895|872896|872897|872898|872899|872900|872901|872902|872903|872904|872905|872906|872907|872908|872909|872910|872911|872912|876463", "text": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1" }, { - "baseId": "18464|18465|39608|135500|135500|135501|310050|310059|315063|315074|315092|321107|321110|321671|321672|321688|321690|321696|429047|444587|540020|865722|865723|865724|865725|865726|865727|865728|865729|865730|865731|865732", + "upstreamId": "18464|18465|39608|135500|135500|135501|310050|310059|315063|315074|315092|321107|321110|321671|321672|321688|321690|321696|429047|444587|540020|865722|865723|865724|865725|865726|865727|865728|865729|865730|865731|865732", "text": "Diabetes mellitus, permanent neonatal, with cerebellar agenesis" }, { - "baseId": "18466|18467|18468|18469|18470|140732|140734|140736|140737|239295|239296|393772|394187|394191|394208|452818|453596|453599|453600|519647|519922|621894|631840|631841|689747|734338|819426|828626|828627|828628|918866|923374|943731|943732|972513", + "upstreamId": "18466|18467|18468|18469|18470|140732|140734|140736|140737|239295|239296|393772|394187|394191|394208|452818|453596|453599|453600|519647|519922|621894|631840|631841|689747|734338|819426|828626|828627|828628|918866|923374|943731|943732|972513", "text": "Atrioventricular septal defect 2" }, { - "baseId": "18468", + "upstreamId": "18468", "text": "Atrioventricular septal defect, partial, with heterotaxy syndrome" }, { - "baseId": "18471|171814|428536|615412", + "upstreamId": "18471|171814|428536|615412", "text": "Hermansky-Pudlak syndrome 7" }, { - "baseId": "18472|18473|18474|18475|18476|18477|101989|101991|101992|101993|101994|101995|101996|177480|177481|243958|243959|257698|338487|338489|338492|338503|338506|338508|338510|338513|338525|338530|348089|348093|348095|348107|351792|351793|351794|351796|351797|351798|351799|351802|351803|351806|352651|352652|352653|352654|352655|352656|352657|352658|352659|352660|352661|352662|379867|471157|471158|471984|513672|539105|552234|572024|572030|574152|585471|588528|620696|624880|649539|649540|649541|649542|653606|689293|694749|717534|729275|742982|742984|758131|758132|853022|891438|891439|891440|891441|891442|891443|891444|891445|891446|891447|891448|891449|891450|891451|891452|891453|891454|891455|891853|951492|959106|959107|975874", + "upstreamId": "18472|18473|18474|18475|18476|18477|101989|101991|101992|101993|101994|101995|101996|177480|177481|243958|243959|257698|338487|338489|338492|338503|338506|338508|338510|338513|338525|338530|348089|348093|348095|348107|351792|351793|351794|351796|351797|351798|351799|351802|351803|351806|352651|352652|352653|352654|352655|352656|352657|352658|352659|352660|352661|352662|379867|471157|471158|471984|513672|539105|552234|572024|572030|574152|585471|588528|620696|624880|649539|649540|649541|649542|653606|689293|694749|717534|729275|742982|742984|758131|758132|853022|891438|891439|891440|891441|891442|891443|891444|891445|891446|891447|891448|891449|891450|891451|891452|891453|891454|891455|891853|951492|959106|959107|975874", "text": "ALG12-congenital disorder of glycosylation" }, { - "baseId": 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"text": "Fanconi anemia, complementation group A" }, { - "baseId": 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"text": "Fanconi anemia" }, { - "baseId": "18488|18489|18490|18491|18492|142515|166367|166368|166369|262052|266582|335812|335816|335818|345515|345516|345522|345523|345525|350125|350129|350131|350132|351175|351176|351178|626012|684889|791992|805115|806425|806426|886285|886286|886287|886288|886289|886290|886291|886292|886293|886294|886295|886296|886297|886298", + "upstreamId": "18488|18489|18490|18491|18492|142515|166367|166368|166369|262052|266582|335812|335816|335818|345515|345516|345522|345523|345525|350125|350129|350131|350132|351175|351176|351178|626012|684889|791992|805115|806425|806426|886285|886286|886287|886288|886289|886290|886291|886292|886293|886294|886295|886296|886297|886298", "text": "Kallmann syndrome 3" }, { - "baseId": 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"18496|18497|131958|135815|181436|186187|213100|213101|213102|241738|241739|319416|319420|319422|319423|319428|319429|319432|319440|319448|319449|319453|327971|327972|327994|328001|328002|328010|328011|334295|334302|334303|334304|334305|334312|334313|334314|334325|334326|334330|334339|334343|336018|336019|336029|336031|336032|336038|336039|336040|336041|336050|336057|373533|399424|400175|409023|462907|463264|463266|463616|463846|463848|504262|505178|527718|527721|528075|567565|620470|641925|684417|840877|871134|871135|871136|871137|871138|871139|871140|871141|871142|871143|871144|871145|871146|871147|871148|871149|871150|871151|871152|871153|871154|871155|871156|871157|871158|871159|871160|871161|871162|871163|871164|871165|872328", "text": "Troyer syndrome" }, { - "baseId": 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+ "upstreamId": 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"text": "Aniridia 1" }, { - "baseId": "18501", + "upstreamId": "18501", "text": "Cataracts, congenital, with late-onset corneal dystrophy" }, { - "baseId": "18502", + "upstreamId": "18502", "text": "ANTERIOR SEGMENT DYSGENESIS 5, PETERS ANOMALY SUBTYPE" }, { - "baseId": 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+ "upstreamId": 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"text": "Irido-corneo-trabecular dysgenesis" }, { - "baseId": "18508", + "upstreamId": "18508", "text": "Keratitis, autosomal dominant" }, { - "baseId": "18509|18518|215434|254136|274286|313856|313857|313862|313863|313867|313870|313872|313873|313874|313877|313885|313886|313888|313889|320061|320062|320069|320071|320080|320084|320087|320088|320089|320100|320102|320108|320111|320112|320114|320134|320135|320138|320142|320143|320145|320146|320147|320163|320165|320166|320167|320174|320197|320198|320199|326222|326244|326245|326246|326248|326251|326252|326255|326256|326257|326258|326270|326272|326273|326276|326277|327197|327203|327204|327206|327207|327214|327217|327218|327222|327223|327224|327241|327242|327259|327263|327272|327273|327276|327282|327283|612908|624856|789029|867820|867821|867822|867823|867824|867825|867826|867827|867828|867829|867830|867831|867832|867833|867834|867835|867836|867837|867838|867839|867840|867841|867842|867843|867844|867845|867846|867847|867848|867849|867850|867851|867852|867853|867854|867855|867856|867857|867858|867859", + "upstreamId": "18509|18518|215434|254136|274286|313856|313857|313862|313863|313867|313870|313872|313873|313874|313877|313885|313886|313888|313889|320061|320062|320069|320071|320080|320084|320087|320088|320089|320100|320102|320108|320111|320112|320114|320134|320135|320138|320142|320143|320145|320146|320147|320163|320165|320166|320167|320174|320197|320198|320199|326222|326244|326245|326246|326248|326251|326252|326255|326256|326257|326258|326270|326272|326273|326276|326277|327197|327203|327204|327206|327207|327214|327217|327218|327222|327223|327224|327241|327242|327259|327263|327272|327273|327276|327282|327283|612908|624856|789029|867820|867821|867822|867823|867824|867825|867826|867827|867828|867829|867830|867831|867832|867833|867834|867835|867836|867837|867838|867839|867840|867841|867842|867843|867844|867845|867846|867847|867848|867849|867850|867851|867852|867853|867854|867855|867856|867857|867858|867859", "text": "Foveal hypoplasia and presenile cataract syndrome" }, { - "baseId": "18510", + "upstreamId": "18510", "text": "Aniridia, atypical" }, { - "baseId": "18511", + "upstreamId": "18511", "text": "Foveal hypoplasia 1 with cataract" }, { - "baseId": "18512", + "upstreamId": "18512", "text": "ANTERIOR SEGMENT DYSGENESIS 5, MULTIPLE SUBTYPES" }, { - "baseId": "18512", + "upstreamId": "18512", "text": "Foveal hypoplasia 1 with or without anterior segment anomalies" }, { - "baseId": "18513|176785|225852|263283|263314|263410|360879|363377|513989|514048|514112|514188|514221", + "upstreamId": "18513|176785|225852|263283|263314|263410|360879|363377|513989|514048|514112|514188|514221", "text": "Hypertelorism" }, { - "baseId": "18514|18516|625874|919355", + "upstreamId": "18514|18516|625874|919355", "text": "Coloboma of optic disc" }, { - "baseId": "18515|512990", + "upstreamId": "18515|512990", "text": "Optic nerve hypoplasia, bilateral" }, { - "baseId": "18516|22778|22783|79359|79360|79362|79363|79368|125921|361130|424443|625776|682221|682222|682223", + "upstreamId": "18516|22778|22783|79359|79360|79362|79363|79368|125921|361130|424443|625776|682221|682222|682223", "text": "Congenital ocular coloboma" }, { - "baseId": "18517", + "upstreamId": "18517", "text": "Optic nerve aplasia, bilateral" }, { - "baseId": 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"text": "Wilms tumor 1" }, { - "baseId": 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"text": "Frasier syndrome" }, { - "baseId": 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"text": "Drash syndrome" }, { - "baseId": "18526|18544|139192|139194|190617|190618|195751|195752|241127|241134|241135|241136|241137|241138|241139|254138|254142|254144|254145|254146|254147|313892|313893|313895|313897|313901|313904|313905|313913|313914|313915|313918|313927|313928|313932|313933|313934|313935|313940|320204|320206|320208|320209|320213|320216|320218|320219|320220|320227|320232|320234|320235|320257|320268|320269|320282|320284|320286|320287|320288|320289|326278|326279|326280|326282|326283|326284|326285|326288|326289|326290|326291|326292|326294|326296|326297|326298|327285|327286|327287|327288|327296|327299|327300|327313|327320|327325|327326|327329|327331|327340|327344|327346|327353|398169|398176|398608|398668|503257|526359|737943|838321|838331|867860|867861|867862|867863|867864|867865|867866|867867|867868|867869", + "upstreamId": 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"18526|18527|18529|18532|18534|18539|18541|139192|139194|190617|190618|190618|195751|195752|195752|241127|241134|241135|241136|241137|241138|241139|254138|254142|254144|254144|254145|254146|254147|313892|313893|313895|313897|313901|313904|313905|313913|313914|313915|313918|313927|313928|313932|313933|313934|313935|313940|320204|320206|320208|320209|320213|320216|320218|320219|320220|320227|320232|320234|320235|320257|320268|320269|320282|320284|320286|320287|320288|320289|326278|326279|326280|326282|326283|326284|326285|326288|326289|326290|326291|326292|326294|326296|326297|326298|327285|327286|327287|327288|327296|327299|327300|327313|327320|327325|327326|327329|327331|327340|327344|327346|327353|389922|398169|398176|398608|398668|432306|503257|513089|513090|526359|537657|590302|590303|623307|737943|838321|838331|861038|867860|867861|867862|867863|867864|867865|867866|867867|867868|867869|966658|966659", "text": "Nephrotic syndrome, type 4" }, { - "baseId": 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+ "upstreamId": "18526|18532|18533|18536|18539|50286|89226|89228|139192|139193|139194|139195|178637|190617|195751|215434|241126|241127|241128|241130|241131|241132|241133|241134|241135|241136|241137|241138|241139|241140|254136|254138|254142|254145|254146|259981|274286|274962|313856|313857|313862|313863|313867|313870|313872|313873|313874|313877|313885|313886|313888|313889|313895|313897|313901|313913|313918|313928|313932|320061|320062|320069|320071|320080|320084|320087|320088|320089|320100|320102|320108|320111|320112|320114|320134|320135|320138|320142|320143|320145|320146|320147|320163|320165|320166|320167|320174|320197|320198|320199|320206|320208|320216|320220|320227|320232|320235|320269|320282|320286|320288|320289|326222|326244|326245|326246|326248|326251|326252|326255|326256|326257|326258|326270|326272|326273|326276|326277|326279|326280|326283|326285|326288|326290|326294|326296|327197|327203|327204|327206|327207|327214|327217|327218|327222|327223|327224|327241|327242|327259|327263|327272|327273|327276|327282|327283|327288|327326|327340|327344|327346|327353|363632|389922|398164|398167|398169|398176|398177|398179|398189|398197|398229|398232|398234|398235|398240|398242|398250|398251|398583|398585|398586|398587|398608|398611|398612|398614|398623|398626|398646|398652|398668|398680|398687|398688|398691|398693|398699|444795|460431|461059|461061|461063|461070|461072|461077|461078|461080|461081|461083|461090|461238|461243|461244|461248|461254|461256|461260|461262|461264|461266|461269|461277|461281|461285|461287|461288|461294|461527|461531|461532|461545|461547|461548|461559|461560|461562|461564|461570|461571|461853|461855|461867|461869|461875|461881|461883|461887|503257|525996|526132|526135|526140|526148|526152|526155|526156|526160|526161|526164|526166|526170|526172|526174|526175|526181|526184|526186|526189|526192|526303|526305|526308|526319|526320|526324|526326|526330|526332|526335|526337|526341|526342|526353|526359|526363|526364|526369|526371|526632|526635|526639|526643|526648|526650|526661|526662|564594|564595|564597|564598|564602|564603|564607|565708|565714|565716|565722|565726|567207|567213|567214|567219|567224|567228|567233|570569|570575|570581|570588|570594|570598|570612|575843|613758|613865|639958|639959|639960|639961|639962|639963|639964|639965|639966|639967|639968|639969|639970|639971|639972|639973|639974|639975|639976|639977|639978|639979|639980|639981|639982|639983|639984|639985|639986|639987|639988|639989|639990|639991|639992|639993|639994|639995|639996|639997|639998|652058|652119|652190|652191|652534|684256|684257|684258|687767|687768|687770|687771|687772|687773|687774|687775|687776|693007|693008|693009|693011|693012|693013|695508|695509|695511|712789|724403|737941|737942|737943|737944|752650|752652|768419|768421|768422|768424|768427|777946|779535|783981|783983|783984|796568|820359|820360|820361|838299|838300|838301|838302|838303|838304|838305|838306|838307|838308|838309|838310|838311|838312|838313|838314|838315|838317|838318|838319|838320|838321|838322|838323|838324|838325|838326|838327|838328|838329|838330|838331|838332|838333|838334|838335|838336|838337|838338|838339|838340|838341|838342|838343|838344|838345|838346|838347|838348|838349|838350|851431|867828|867836|867842|867843|867849|867850|867856|926196|926197|926198|926199|926200|926201|926202|926203|926204|926205|926206|926207|926208|926209|926210|926211|926212|926213|935493|935494|935495|935496|935497|935498|935499|935500|935501|935502|935503|935504|935505|935506|935507|935508|935509|935510|935511|935512|935513|940211|940212|940994|947412|947413|947414|947415|947416|947417|947418|947419|947420|947421|947422|947423|947424|947425|947426|947427|947428|947429|947431|956465|956466|956467|956468|956469|956470|956471|956472|956473|956474|956475|956476", "text": "Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome" }, { - "baseId": "18526|20399|20400|20404|20407|21119|71146|76004|178865|178866|186603|186605|249552|249553|249555|249558|249560|278593|278595|440413|496597|540658|540697|540699|540708|540722|587964|672259|672260|672261|672262|731895|731896|745857|758855|761348|774413|794271|794272|801218|862851|977467|977468|977469", + "upstreamId": "18526|20399|20400|20404|20407|21119|71146|76004|178865|178866|186603|186605|249552|249553|249555|249558|249560|278593|278595|440413|496597|540658|540697|540699|540708|540722|587964|672259|672260|672261|672262|731895|731896|745857|758855|761348|774413|794271|794272|801218|862851|977467|977468|977469", "text": "Steroid-resistant nephrotic syndrome" }, { - "baseId": "18526|18539|20399|21119|21120|71146|76004|186603|801123", + "upstreamId": "18526|18539|20399|21119|21120|71146|76004|186603|801123", "text": "Nephrotic range proteinuria" }, { - "baseId": "18532|18539|178740|224420|224550|496597", + "upstreamId": "18532|18539|178740|224420|224550|496597", "text": "Hereditary nephrotic syndrome" }, { - "baseId": "18538|21289|21302", + "upstreamId": "18538|21289|21302", "text": "Mesothelioma" }, { - "baseId": "18546|18548|18549|18550|98626|135259|135260|135261|166175|177328|177328|190732|191490|195864|212119|237153|238354|267761|271582|272606|281552|281554|281560|281574|281578|282227|282229|282230|283553|283553|283554|283555|283689|283710|283715|427871|446900|448554|448755|490032|557488|585870|614128|880833|880834|880835|880836|880837|880838|880839|880840|880841|880842|880843|880844|880845|882778|882779|882780|882781|962849", + "upstreamId": "18546|18548|18549|18550|98626|135259|135260|135261|166175|177328|177328|190732|191490|195864|212119|237153|238354|267761|271582|272606|281552|281554|281560|281574|281578|282227|282229|282230|283553|283553|283554|283555|283689|283710|283715|427871|446900|448554|448755|490032|557488|585870|614128|880833|880834|880835|880836|880837|880838|880839|880840|880841|880842|880843|880844|880845|882778|882779|882780|882781|962849", "text": "Nephronophthisis 1" }, { - "baseId": "18549|620733", + "upstreamId": "18549|620733", "text": "NPHP1-Related Disorders" }, { - "baseId": "18550|98626|135259|135260|135261|166175|177328|177328|190732|191490|195864|212119|237153|271582|272606|281552|281554|281560|281574|281578|282227|282229|282230|283553|283553|283554|283555|283689|283710|283715|448554|490032|557488|585870|880833|880834|880835|880836|880837|880838|880839|880840|880841|880842|880843|880844|880845|882778|882779|882780|882781", + "upstreamId": "18550|98626|135259|135260|135261|166175|177328|177328|190732|191490|195864|212119|237153|271582|272606|281552|281554|281560|281574|281578|282227|282229|282230|283553|283553|283554|283555|283689|283710|283715|448554|490032|557488|585870|880833|880834|880835|880836|880837|880838|880839|880840|880841|880842|880843|880844|880845|882778|882779|882780|882781", "text": "Senior-Loken syndrome 1" }, { - "baseId": "18550|98626|135259|135260|135261|166175|177328|177328|190732|191490|195864|212119|214377|237153|271582|272606|281552|281554|281560|281574|281578|282227|282229|282230|283553|283553|283554|283555|283689|283710|283715|448554|490032|557488|585870|628412|880833|880834|880835|880836|880837|880838|880839|880840|880841|880842|880843|880844|880845|882778|882779|882780|882781|961829|970705", + "upstreamId": "18550|98626|135259|135260|135261|166175|177328|177328|190732|191490|195864|212119|214377|237153|271582|272606|281552|281554|281560|281574|281578|282227|282229|282230|283553|283553|283554|283555|283689|283710|283715|448554|490032|557488|585870|628412|880833|880834|880835|880836|880837|880838|880839|880840|880841|880842|880843|880844|880845|882778|882779|882780|882781|961829|970705", "text": "Joubert syndrome 4" }, { - "baseId": "18551|18552|18553|18554|18555|18556|296509|314504|314505|314507|314508|314512|314516|321162|321164|321167|321168|321185|321186|321187|321191|321195|321196|321199|321203|321204|321206|321207|321208|327250|327257|327258|327262|327270|327271|327274|327275|327298|327309|327311|327312|328328|328329|328330|328332|328333|328334|328335|328343|328346|328349|328350|328366|328368|328376|328377|328378|620411|620412|620413|620834|724567|738096|868217|868218|868219|868220|868221|868222|868223|868224|868225|868226|868227|868228|868229|868230|868231|868232|868233|868234|868235|868236|868237|868238|868239|868240|868241|868668", + "upstreamId": "18551|18552|18553|18554|18555|18556|296509|314504|314505|314507|314508|314512|314516|321162|321164|321167|321168|321185|321186|321187|321191|321195|321196|321199|321203|321204|321206|321207|321208|327250|327257|327258|327262|327270|327271|327274|327275|327298|327309|327311|327312|328328|328329|328330|328332|328333|328334|328335|328343|328346|328349|328350|328366|328368|328376|328377|328378|620411|620412|620413|620834|724567|738096|868217|868218|868219|868220|868221|868222|868223|868224|868225|868226|868227|868228|868229|868230|868231|868232|868233|868234|868235|868236|868237|868238|868239|868240|868241|868668", "text": "Familial renal hypouricemia" }, { - "baseId": "18555", + "upstreamId": "18555", "text": "Hereditary renal hypouricemia" }, { - "baseId": "18557|18558|18559|18560|18561|18562|18563|18564|18565|18567|18568|177842|185766|185787|191234|265996|266128|271357|276137|276378|276690|276694|276709|493520|514997|515062|556597|626680|626681|683277|683278|683279|683280|683282|683283|683284|685552|685555|685557|685558|685559|780282|977421", + "upstreamId": "18557|18558|18559|18560|18561|18562|18563|18564|18565|18567|18568|177842|185766|185787|191234|265996|266128|271357|276137|276378|276690|276694|276709|493520|514997|515062|556597|626680|626681|683277|683278|683279|683280|683282|683283|683284|685552|685555|685557|685558|685559|780282|977421", "text": "Homocystinuria due to MTHFR deficiency" }, { - "baseId": 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+ "upstreamId": "18557|18559|18560|18566|18567|185757|185758|185759|185760|185761|185762|185763|185764|185765|185766|185767|185768|185769|185770|185771|185772|185773|185774|185775|185776|185777|185778|185779|185780|185781|185782|185783|185784|185785|185786|185787|185788|185789|185790|185791|185792|185793|185794|185795|185796|185797|185798|190849|190849|193590|193591|196274|204439|204440|204441|224593|224594|224595|224596|224597|224598|265996|266128|270484|270967|271357|276136|276137|276378|276690|447010|447105|447135|489913|490856|491168|493520|513228|513229|514997|515060|515062|538939|556564|556597|556859|557004|581743|584639|626680|626681|626682|626683|626684|626685|626686|626687|626688|683277|683278|683279|683280|683281|683282|683283|683284|685085|685551|685552|685553|685554|685555|685557|685558|685559|685560|685561|689625|696017|706619|718127|718128|731622|745603|761103|761105|761107|774354|780282|788723|789826|816433|822590|822591|822592|822593|822594|850716|918546|929991|929992|952030|952031|961747|964643|969111|972777|983738", "text": "Homocystinuria due to methylene tetrahydrofolate reductase deficiency" }, { - "baseId": "18559|18560", + "upstreamId": "18559|18560", "text": "MTHFR deficiency, thermolabile type" }, { - "baseId": 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"text": "Gastrointestinal stromal tumor" }, { - "baseId": "18559|352627", + "upstreamId": "18559|352627", "text": "cyclophosphamide response - Toxicity/ADR" }, { - "baseId": "18559|227806", + "upstreamId": "18559|227806", "text": "carboplatin response - Efficacy" }, { - "baseId": "18559|18560|190849|276134|276302|276341|276373|276374|276588|276599|276607|276639|276642|276655|276681|276682|276684|276708|276711|558389|789826", + "upstreamId": "18559|18560|190849|276134|276302|276341|276373|276374|276588|276599|276607|276639|276642|276655|276681|276682|276684|276708|276711|558389|789826", "text": "Neural tube defects, folate-sensitive" }, { - "baseId": "18559", + "upstreamId": "18559", "text": "methotrexate response - Dosage, Efficacy, Toxicity/ADR" }, { - "baseId": "18559|28341|28349|40578|153725|153726|190849|249498|249500|249502|249503|249504|249505|249506|249507|249508|249510|249511|249512|249513|249514|249515|249516|249517|249518|249520|249521|249522|249523|249524|249525|249526|254180|254181|254182|254183|254184|254185|277166|277168|277179|277180|277191|277192|277194|277195|277214|277219|277220|277221|277222|277225|277248|277249|277250|277252|277253|277254|277257|277260|277262|277263|277270|277272|277273|277294|277416|277422|277423|277427|277428|277435|277443|277444|277452|277454|277458|277459|277466|277467|277468|277471|277472|277474|277480|277482|277486|277489|277492|277494|277498|277504|277505|278219|278222|278240|278256|278260|278261|278262|278263|278264|278267|278268|278269|278270|278271|278278|278280|278281|278288|278289|278291|278295|278297|278298|278305|278307|278309|278310|278312|278316|278317|278318|278325|278328|278329|278330|278332|278334|278336|278338|278340|278341|278342|278343|278350|278351|278352|278360|278364|278373|278374|278383|314178|314179|314187|314188|314190|314191|320729|320749|320751|320758|320767|320768|326803|326804|326811|327765|327768|327769|327773|557032|558220|615287|619964|679780|706851|718365|718370|724459|745824|768463|777016|862698|862699|862700|862701|862702|862703|862704|862705|862706|862707|862708|862709|862710|862711|862712|862713|862714|862715|862716|862717|862718|862719|862720|862721|862722|862723|862724|862725|862726|862727|862728|862729|862730|862731|862732|862733|862734|862735|862736|862737|862738|862739|862740|862741|862742|862743|862744|862745|862746|862747|862748|862750|862751|862752|862753|865026|865027|865028|868030|868031|868032|868033|868034|868035|868650|868651|868652", + "upstreamId": "18559|28341|28349|40578|153725|153726|190849|249498|249500|249502|249503|249504|249505|249506|249507|249508|249510|249511|249512|249513|249514|249515|249516|249517|249518|249520|249521|249522|249523|249524|249525|249526|254180|254181|254182|254183|254184|254185|277166|277168|277179|277180|277191|277192|277194|277195|277214|277219|277220|277221|277222|277225|277248|277249|277250|277252|277253|277254|277257|277260|277262|277263|277270|277272|277273|277294|277416|277422|277423|277427|277428|277435|277443|277444|277452|277454|277458|277459|277466|277467|277468|277471|277472|277474|277480|277482|277486|277489|277492|277494|277498|277504|277505|278219|278222|278240|278256|278260|278261|278262|278263|278264|278267|278268|278269|278270|278271|278278|278280|278281|278288|278289|278291|278295|278297|278298|278305|278307|278309|278310|278312|278316|278317|278318|278325|278328|278329|278330|278332|278334|278336|278338|278340|278341|278342|278343|278350|278351|278352|278360|278364|278373|278374|278383|314178|314179|314187|314188|314190|314191|320729|320749|320751|320758|320767|320768|326803|326804|326811|327765|327768|327769|327773|557032|558220|615287|619964|679780|706851|718365|718370|724459|745824|768463|777016|862698|862699|862700|862701|862702|862703|862704|862705|862706|862707|862708|862709|862710|862711|862712|862713|862714|862715|862716|862717|862718|862719|862720|862721|862722|862723|862724|862725|862726|862727|862728|862729|862730|862731|862732|862733|862734|862735|862736|862737|862738|862739|862740|862741|862742|862743|862744|862745|862746|862747|862748|862750|862751|862752|862753|865026|865027|865028|868030|868031|868032|868033|868034|868035|868650|868651|868652", "text": "Thrombophilia due to thrombin defect" }, { - "baseId": "18560|19921|19922|27975|31809|32631", + "upstreamId": "18560|19921|19922|27975|31809|32631", "text": "Schizophrenia, susceptibility to" }, { - "baseId": "18569|18570|291146|291147|291154|291160|291161|291163|291165|291166|291174|291175|292123|292125|292127|292128|295512|295514|295515|295516|295518|295528|295530|295670|295671|295672|295674|295675|519428|586113|631587|708944|720536|720537|734167|748384|748385|748386|764022|764023|764024|764025|764026|781748|781749|819293|828357|889405|889406|889407|889408|889409|889410|889411|889412|889413|889414|889415|889416|923273|932024|943628|943629|953548|953549|977979|977980|977981|977982", + "upstreamId": "18569|18570|291146|291147|291154|291160|291161|291163|291165|291166|291174|291175|292123|292125|292127|292128|295512|295514|295515|295516|295518|295528|295530|295670|295671|295672|295674|295675|519428|586113|631587|708944|720536|720537|734167|748384|748385|748386|764022|764023|764024|764025|764026|781748|781749|819293|828357|889405|889406|889407|889408|889409|889410|889411|889412|889413|889414|889415|889416|923273|932024|943628|943629|953548|953549|977979|977980|977981|977982", "text": "Deficiency of hyaluronoglucosaminidase" }, { - "baseId": "18571|39554|39589|48441|49863|50336|270015|270016|432334|551264|818298", + "upstreamId": "18571|39554|39589|48441|49863|50336|270015|270016|432334|551264|818298", "text": "Osteogenesis imperfecta type 12" }, { - "baseId": "18573|18574|18575|18576|18577|18578|18579|18580|18581|18582|18583|18584|304606|304607|304611|304614|304615|304623|304624|304631|308325|308327|308340|308342|308343|308344|308346|308349|313367|313376|313378|313380|313390|313391|313401|313402|313406|313409|313485|313488|313491|313492|313495|313496|313497|313509|313510|313511|313518|313527|313529|313533|700483|711406|711407|722941|722942|722945|722947|736535|736536|736537|736538|736539|736540|736541|751008|751009|751010|751012|751014|751015|759623|766640|766643|766646|766647|766648|766653|766654|766655|766656|766657|766659|766662|775218|775307|775310|775453|783041|783044|783046|783047|787456|899088|899089|899090|899091|899092|899093|899094|899095|899096|899097|899099|899100|899101|899102|899103|899104|899105|899106|899107|899108|899109|899110|899111|899112|899113|899114|899115|899116|900456|900458|978445|978446|978447|978448|978449|978450|978451|978452|978453|978454", + "upstreamId": "18573|18574|18575|18576|18577|18578|18579|18580|18581|18582|18583|18584|304606|304607|304611|304614|304615|304623|304624|304631|308325|308327|308340|308342|308343|308344|308346|308349|313367|313376|313378|313380|313390|313391|313401|313402|313406|313409|313485|313488|313491|313492|313495|313496|313497|313509|313510|313511|313518|313527|313529|313533|700483|711406|711407|722941|722942|722945|722947|736535|736536|736537|736538|736539|736540|736541|751008|751009|751010|751012|751014|751015|759623|766640|766643|766646|766647|766648|766653|766654|766655|766656|766657|766659|766662|775218|775307|775310|775453|783041|783044|783046|783047|787456|899088|899089|899090|899091|899092|899093|899094|899095|899096|899097|899099|899100|899101|899102|899103|899104|899105|899106|899107|899108|899109|899110|899111|899112|899113|899114|899115|899116|900456|900458|978445|978446|978447|978448|978449|978450|978451|978452|978453|978454", "text": "Hereditary acrodermatitis enteropathica" }, { - "baseId": "18585|18586|18587|18588|513045|513046|918788|918789|918790|920184", + "upstreamId": "18585|18586|18587|18588|513045|513046|918788|918789|918790|920184", "text": "Retinitis pigmentosa 56" }, { - "baseId": "18589|152869|171853|188984|590270", + "upstreamId": "18589|152869|171853|188984|590270", "text": "Macular dystrophy, vitelliform, 5" }, { - "baseId": "18590|133964|206584|206585|919552", + "upstreamId": "18590|133964|206584|206585|919552", "text": "Azorean disease" }, { - "baseId": "18590|19327|19329|19334|19374|19924|21117|22718|22719|24765|29284|29286|29292|38891|70810|76576|99352|99354|102612|102613|102614|102615|102616|102617|104135|205699|205700|205701|209422|215776|215777|215778|227175|282298|282301|282313|282315|282316|282317|282318|282322|283004|283007|283008|284548|284551|284553|284563|284576|284952|284957|284958|284959|284969|422174|539073|553248|553277|590519|621703|801562|881245|881246|881247|881248|881249|881250|881251|881252|881253|881254|881255|881256|881257|881258|881259|881260|881261|881262|882817|917820|918675", + "upstreamId": "18590|19327|19329|19334|19374|19924|21117|22718|22719|24765|29284|29286|29292|38891|70810|76576|99352|99354|102612|102613|102614|102615|102616|102617|104135|205699|205700|205701|209422|215776|215777|215778|227175|282298|282301|282313|282315|282316|282317|282318|282322|283004|283007|283008|284548|284551|284553|284563|284576|284952|284957|284958|284959|284969|422174|539073|553248|553277|590519|621703|801562|881245|881246|881247|881248|881249|881250|881251|881252|881253|881254|881255|881256|881257|881258|881259|881260|881261|881262|882817|917820|918675", "text": "Parkinson disease, late-onset" }, { - "baseId": 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+ "upstreamId": 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"text": "Neuronal ceroid lipofuscinosis 3" }, { - "baseId": "18595|18596|70928|181569", + "upstreamId": "18595|18596|70928|181569", "text": "Ceroid lipofuscinosis, neuronal, 3, protracted" }, { - "baseId": "18595|203258|976713|976720|976721|976722|976723", + "upstreamId": "18595|203258|976713|976720|976721|976722|976723", "text": "early onset and severe retinal dystrophy" }, { - "baseId": "18597|18598", + "upstreamId": "18597|18598", "text": "Apocrine gland secretion, variation in" }, { - "baseId": "18597", + "upstreamId": "18597", "text": "Axillary odor" }, { - "baseId": "18597", + "upstreamId": "18597", "text": "Colostrum secretion" }, { - "baseId": "18599|18600|57117|106526|106527|175784|175788|215510|215511|230615|389206|389247|612162|614517|622432|625877|626242|672206|857686", + "upstreamId": "18599|18600|57117|106526|106527|175784|175788|215510|215511|230615|389206|389247|612162|614517|622432|625877|626242|672206|857686", "text": "Deafness, autosomal recessive 22" }, { - "baseId": "18601|18602", + "upstreamId": "18601|18602", "text": "Isovaleric acidemia, type I" }, { - "baseId": 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+ "upstreamId": 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"text": "Isovaleryl-CoA dehydrogenase deficiency" }, { - "baseId": "18603", + "upstreamId": "18603", "text": "Isovaleric acidemia, type III" }, { - "baseId": "18604", + "upstreamId": "18604", "text": "Isovaleric acidemia, type II" }, { - "baseId": 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+ "upstreamId": 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"text": "Medulloblastoma" }, { - "baseId": "18609|18610|18611|18613", + "upstreamId": "18609|18610|18611|18613", "text": "Medulloblastoma, desmoplastic" }, { - "baseId": 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"text": "Gorlin syndrome" }, { - "baseId": "18610", + "upstreamId": "18610", "text": "SUFU-related disorders" }, { - "baseId": "18612|18613", + "upstreamId": "18612|18613", "text": "Medulloblastoma with extensive nodularity" }, { - "baseId": "18614|18616|18617|18618|18619|18620|18621|18622|18623|18624|206682|214870|215404|308685|308687|308689|308690|308692|308693|308695|308699|308701|308705|308709|308711|308713|308714|308716|308718|308719|308721|308725|308727|308728|308729|313271|313272|313279|313280|313282|313291|313295|313296|313302|313303|313304|313307|313308|319086|319087|319088|319092|319094|319096|319099|319101|319102|319103|319108|319117|319119|319121|319139|319146|319147|319148|319691|319698|319700|319701|319703|319705|319708|319712|319714|319739|319740|319755|319761|319763|319768|390703|418974|712019|723622|723623|737183|737185|737186|737192|751761|751763|759768|902305|902306|902307|902308|902309|902310|902311|902312|902313|902314|902315|902316|902317|902318|902319|902320|902321|902322|902323|902324|902325|902326|902327|902328|902329|902330|902331|902332|902333|902334|902335|902336|902337|902338|902339|902340|902341|902342|902343|902344|902345|902346|902347|902348|902349|902350|902351|902352|902353|902354|902355|902356|902357|902358|902359|902360|902361|902362|902363|902364|902365|902366|902367|903426|903427|903428|903429|903430|903561|963079", + "upstreamId": "18614|18616|18617|18618|18619|18620|18621|18622|18623|18624|206682|214870|215404|308685|308687|308689|308690|308692|308693|308695|308699|308701|308705|308709|308711|308713|308714|308716|308718|308719|308721|308725|308727|308728|308729|313271|313272|313279|313280|313282|313291|313295|313296|313302|313303|313304|313307|313308|319086|319087|319088|319092|319094|319096|319099|319101|319102|319103|319108|319117|319119|319121|319139|319146|319147|319148|319691|319698|319700|319701|319703|319705|319708|319712|319714|319739|319740|319755|319761|319763|319768|390703|418974|712019|723622|723623|737183|737185|737186|737192|751761|751763|759768|902305|902306|902307|902308|902309|902310|902311|902312|902313|902314|902315|902316|902317|902318|902319|902320|902321|902322|902323|902324|902325|902326|902327|902328|902329|902330|902331|902332|902333|902334|902335|902336|902337|902338|902339|902340|902341|902342|902343|902344|902345|902346|902347|902348|902349|902350|902351|902352|902353|902354|902355|902356|902357|902358|902359|902360|902361|902362|902363|902364|902365|902366|902367|903426|903427|903428|903429|903430|903561|963079", "text": "Hypomagnesemia 1, intestinal" }, { - "baseId": 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+ "upstreamId": 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"text": "Medium-chain acyl-coenzyme A dehydrogenase deficiency" }, { - "baseId": "18640|18641|18642|18643|166364|166365|790421", + "upstreamId": "18640|18641|18642|18643|166364|166365|790421", "text": "Hypogonadotropic hypogonadism 4 with or without anosmia" }, { - "baseId": 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+ "upstreamId": 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"text": "Kleefstra syndrome 1" }, { - "baseId": 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+ "upstreamId": "18648|18649|18650|18651|18652|18653|18654|18655|18656|18657|18658|18659|18660|18661|18662|18663|36443|36444|36445|36446|36447|36448|36449|36450|36451|36452|36453|36454|36455|36456|36457|36458|36459|36460|36461|36462|36463|36465|36466|36467|36468|36469|36470|36471|36472|36473|36474|36475|36476|36477|36478|36479|36480|36481|36482|36483|36484|36485|36486|36487|36488|36489|36490|36491|36492|36493|36494|36495|36496|36497|36498|36499|36500|36501|36502|36503|36504|36505|36506|36507|36508|36509|36510|36511|36512|36513|36514|36515|36516|36517|36518|36519|36520|36521|36522|36523|36524|36525|36526|36527|36528|36529|36530|36531|36532|36533|36534|36535|36537|36538|36539|36540|36541|36542|36543|36544|36545|36546|36547|36548|36549|36550|36551|36552|36553|36554|36555|36556|36557|36558|36559|36560|36561|36562|36563|36564|36565|36566|36567|36568|36569|36570|36571|36573|36574|36575|36576|36577|36578|36579|36580|36581|36582|36583|36584|36585|36586|36587|36588|36589|36590|36591|36592|36593|36594|36595|36596|36597|36599|36600|36601|36602|36603|36604|36605|36606|36607|36608|36609|36610|36611|36612|36613|36614|36615|36617|36618|36619|36620|36621|36622|36623|36625|36626|36627|36628|36629|36630|36631|36632|36633|36634|36635|36636|36637|36638|36639|36640|36641|36642|36643|36644|36645|36647|36648|36649|36650|36651|36652|36653|36654|36655|36656|36657|36659|36660|36661|36662|36663|36664|36665|36666|36667|36668|36669|36670|36671|44187|44809|44811|44812|44819|44822|44824|45901|45902|45903|45904|45905|45906|45907|45908|45909|45910|45911|45912|46835|46837|46840|46843|46847|47143|47145|47151|47152|47154|47159|98425|98426|98430|98431|98432|106814|131978|186785|190722|195555|195556|200181|200182|200184|265208|265226|265233|265306|265311|312603|312605|312606|318507|318514|318523|319020|357784|357785|357786|357787|357788|357789|357790|370377|407690|421753|433070|459173|459536|487374|487387|489984|524448|524536|524545|544707|544708|544719|544726|544730|544736|544750|545014|545021|545148|545149|545151|545152|545155|545157|545164|545246|545254|545265|545266|545293|545295|545296|545304|545307|549463|563218|565885|621302|621306|621787|638216|651855|652017|730636|737114|737115|737116|737117|751683|767385|767386|767387|775380|783398|787632|790904|790905|790906|790907|799592|799593|801674|801675|801676|801677|801678|820135|820136|836076|836077|836078|836079|836080|836081|836082|901953|901954|901955|901956|901957|901958|901959|901960|901961|901962|901963|903393|903394|934746|940146|946599|955809|955810|959918|960684|972028|972029|972030|972031|972032|972033|972034", "text": "Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase" }, { - "baseId": "18651", + "upstreamId": "18651", "text": "GALT POLYMORPHISM" }, { - "baseId": "18652", + "upstreamId": "18652", "text": "GALT POLYMORPHISM (DUARTE, D2)" }, { - "baseId": "18652|18653|18661|36470|36498|36500|36526|36529|36537|36549|36559|36560|36586|36599|36643|44812|98432|200182|200184|265311|312603|318523|433070|487372|487373|487374|487385|487441|563218|621301|621306|737114|737116|767387|836079|978578", + "upstreamId": "18652|18653|18661|36470|36498|36500|36526|36529|36537|36549|36559|36560|36586|36599|36643|44812|98432|200182|200184|265311|312603|318523|433070|487372|487373|487374|487385|487441|563218|621301|621306|737114|737116|767387|836079|978578", "text": "Galactosemia" }, { - "baseId": "18665|18666|18667|18668|18669|18670|18671|18673|18674|983660", + "upstreamId": "18665|18666|18667|18668|18669|18670|18671|18673|18674|983660", "text": "Myeloperoxidase deficiency" }, { - "baseId": "18672", + "upstreamId": "18672", "text": "Lung cancer, protection against, in smokers" }, { - "baseId": "18675|18676|18677|18678|18679|18680|18681|18682|18683|18684|18685|133722|133723|133724|139997|139998|140000|140001|140002|140005|140006|140008|181400|206765|206766|210625|210626|210633|210638|210644|210646|214530|226874|227211|279404|279405|279408|279409|279410|279414|279416|279417|279418|279654|279657|279673|279677|279683|279702|279707|279714|279715|280918|280919|280920|280926|280930|280931|280932|280935|280949|280950|280952|281064|281067|281074|281075|281076|281087|281088|281089|281092|281095|281096|359234|362095|362096|362097|362098|362099|364687|364832|364922|427718|427719|427720|439688|508767|513505|538331|583079|653846|653847|653848|718704|718705|732199|758880|761672|789937|792878|798462|798463|798464|818154|863814|863815|863816|863817|863818|863819|863820|863821|863822|863823|863824|863825|863826|863827|863828|865134|904202|964149|974930|974931", + "upstreamId": "18675|18676|18677|18678|18679|18680|18681|18682|18683|18684|18685|133722|133723|133724|139997|139998|140000|140001|140002|140005|140006|140008|181400|206765|206766|210625|210626|210633|210638|210644|210646|214530|226874|227211|279404|279405|279408|279409|279410|279414|279416|279417|279418|279654|279657|279673|279677|279683|279702|279707|279714|279715|280918|280919|280920|280926|280930|280931|280932|280935|280949|280950|280952|281064|281067|281074|281075|281076|281087|281088|281089|281092|281095|281096|359234|362095|362096|362097|362098|362099|364687|364832|364922|427718|427719|427720|439688|508767|513505|538331|583079|653846|653847|653848|718704|718705|732199|758880|761672|789937|792878|798462|798463|798464|818154|863814|863815|863816|863817|863818|863819|863820|863821|863822|863823|863824|863825|863826|863827|863828|865134|904202|964149|974930|974931", "text": "Coenzyme Q10 deficiency, primary, 4" }, { - "baseId": 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"text": "See cases" }, { - "baseId": "18684|34005|40176|40177|40177|40178|40179|40180|40180|40181|167374|167374|167376|167873|167873|167874|167874|167875|167875|167876|167877|167877|167878|167879|167880|167880|167882|167882|167883|167883|167884|167884|167885|167885|167886|167886|167887|167888|167888|167889|167889|167892|167892|167893|167894|167894|167895|167896|167897|167898|167898|167899|167899|167900|167901|167902|167902|167903|167903|167904|167905|167905|167906|167906|167907|167907|167908|167909|181421|191091|191092|191724|192147|192857|192857|193065|193347|193872|193872|194083|194083|194498|194653|194692|194712|196329|207263|207263|207264|214197|214197|214198|214199|214200|214201|214202|214203|214204|214204|214205|214206|214207|214208|214208|214209|214210|214211|214212|214213|214214|214215|214216|214217|214218|214219|214220|214221|214222|214223|214224|214224|214225|214226|214227|214228|214229|251950|251953|251954|251954|251957|251957|251958|251958|251959|251959|251960|251962|251962|251963|251963|259826|259826|264270|264270|272778|287347|297460|297465|297467|297468|297471|297473|297473|297474|297478|297479|297483|297485|299540|299542|299543|299544|299544|299546|299556|299564|299565|299570|299571|299577|299578|299580|299581|299585|299603|299605|299615|299618|299627|299627|299629|303712|303714|303717|303718|303719|303719|303723|303726|303729|303730|303744|303744|303745|303745|303747|303747|303749|303753|304022|304023|304024|304060|304062|304066|304067|304067|304089|304091|304094|304095|304098|304109|304125|304126|304127|304127|304128|304129|304136|304137|304138|304138|363746|368168|368170|368486|368487|368653|369882|369882|369909|418964|418965|418966|418967|455192|455193|455194|455631|455638|455640|455643|455647|455653|455878|455885|455896|501209|501350|501355|521204|521461|521469|521796|521797|560329|560331|560333|560333|560335|560337|560339|560341|560343|560345|560458|560460|560462|560464|563172|563173|565134|565136|565141|565142|565154|565158|620196|620197|622879|622880|622881|633955|633957|655663|655663|677420|677420|677421|691858|691859|699082|699082|699084|699084|709906|709906|721448|721448|730360|735090|777461|777461|802155|802156|802157|894219|894220|894221|894222|894223|894224|894225|894226|894227|894228|894229|894230|894231|894232|894233|894234|894235|894236|894237|894238|894239|894240|894241|894242|894243|894244|894245|894246|894247|894248|894249|894250|894251|894252|894253|894254|894255|894256|894257|894258|894259|894260|894261|894262|894263|894264|896100|896101|896102|896103|896104|896105|896106|906243|906244|932913|964822|970418|970483|973007|974485", + "upstreamId": "18684|34005|40176|40177|40177|40178|40179|40180|40180|40181|167374|167374|167376|167873|167873|167874|167874|167875|167875|167876|167877|167877|167878|167879|167880|167880|167882|167882|167883|167883|167884|167884|167885|167885|167886|167886|167887|167888|167888|167889|167889|167892|167892|167893|167894|167894|167895|167896|167897|167898|167898|167899|167899|167900|167901|167902|167902|167903|167903|167904|167905|167905|167906|167906|167907|167907|167908|167909|181421|191091|191092|191724|192147|192857|192857|193065|193347|193872|193872|194083|194083|194498|194653|194692|194712|196329|207263|207263|207264|214197|214197|214198|214199|214200|214201|214202|214203|214204|214204|214205|214206|214207|214208|214208|214209|214210|214211|214212|214213|214214|214215|214216|214217|214218|214219|214220|214221|214222|214223|214224|214224|214225|214226|214227|214228|214229|251950|251953|251954|251954|251957|251957|251958|251958|251959|251959|251960|251962|251962|251963|251963|259826|259826|264270|264270|272778|287347|297460|297465|297467|297468|297471|297473|297473|297474|297478|297479|297483|297485|299540|299542|299543|299544|299544|299546|299556|299564|299565|299570|299571|299577|299578|299580|299581|299585|299603|299605|299615|299618|299627|299627|299629|303712|303714|303717|303718|303719|303719|303723|303726|303729|303730|303744|303744|303745|303745|303747|303747|303749|303753|304022|304023|304024|304060|304062|304066|304067|304067|304089|304091|304094|304095|304098|304109|304125|304126|304127|304127|304128|304129|304136|304137|304138|304138|363746|368168|368170|368486|368487|368653|369882|369882|369909|418964|418965|418966|418967|455192|455193|455194|455631|455638|455640|455643|455647|455653|455878|455885|455896|501209|501350|501355|521204|521461|521469|521796|521797|560329|560331|560333|560333|560335|560337|560339|560341|560343|560345|560458|560460|560462|560464|563172|563173|565134|565136|565141|565142|565154|565158|620196|620197|622879|622880|622881|633955|633957|655663|655663|677420|677420|677421|691858|691859|699082|699082|699084|699084|709906|709906|721448|721448|730360|735090|777461|777461|802155|802156|802157|894219|894220|894221|894222|894223|894224|894225|894226|894227|894228|894229|894230|894231|894232|894233|894234|894235|894236|894237|894238|894239|894240|894241|894242|894243|894244|894245|894246|894247|894248|894249|894250|894251|894252|894253|894254|894255|894256|894257|894258|894259|894260|894261|894262|894263|894264|896100|896101|896102|896103|896104|896105|896106|906243|906244|932913|964822|970418|970483|973007|974485", "text": "Joubert syndrome 17" }, { - "baseId": "18686|18687|18688|102114|193728|193729|236920|236953|270109|270767|326179|335856|335857|342228|342231|342237|342245|343772|343778|343779|343781|343792|343793|343795|364111|377727|377728|465923|465926|505708|588555|644890|644891|644892|653055|688630|693912|693913|740319|875871|875872|875873|875874|875875|875876|875877|875878|875879|875880|875881|875882|875883|876717|921236|957850|957851", + "upstreamId": "18686|18687|18688|102114|193728|193729|236920|236953|270109|270767|326179|335856|335857|342228|342231|342237|342245|343772|343778|343779|343781|343792|343793|343795|364111|377727|377728|465923|465926|505708|588555|644890|644891|644892|653055|688630|693912|693913|740319|875871|875872|875873|875874|875875|875876|875877|875878|875879|875880|875881|875882|875883|876717|921236|957850|957851", "text": "Congenital disorder of glycosylation type 2H" }, { - "baseId": "18689|18690|102416|102417|191963|324738|324741|324743|324749|324755|324758|324761|324762|334329|334332|334338|334351|334353|334354|334362|334363|334369|340973|340976|340982|340983|342439|342441|342447|342448|342452|342470|342471|342472|342475|342478|342479|342488|374208|374222|375222|375233|377345|466338|491141|505254|506200|530104|539192|539193|569919|644374|644375|644376|644377|652552|656356|668432|688554|690136|693828|703566|726507|740034|874956|874957|874958|874959|874960|874961|874962|874963|874964|874965|874966|874967|876645|876646|920358|937353", + "upstreamId": "18689|18690|102416|102417|191963|324738|324741|324743|324749|324755|324758|324761|324762|334329|334332|334338|334351|334353|334354|334362|334363|334369|340973|340976|340982|340983|342439|342441|342447|342448|342452|342470|342471|342472|342475|342478|342479|342488|374208|374222|375222|375233|377345|466338|491141|505254|506200|530104|539192|539193|569919|644374|644375|644376|644377|652552|656356|668432|688554|690136|693828|703566|726507|740034|874956|874957|874958|874959|874960|874961|874962|874963|874964|874965|874966|874967|876645|876646|920358|937353", "text": "COG7 congenital disorder of glycosylation" }, { - "baseId": "18691|18692|40584|40585|101593|101594|101595|192136|205182|335913|335934|335936|342273|342275|343855|374551|375381|375618|445607|466655|505908|568293|570426|570512|570516|644946|644947|644948|644949|688643|726767|755360|771046|785367|791639|844239|844240|844241|903614|919675|949533|949534|960852", + "upstreamId": "18691|18692|40584|40585|101593|101594|101595|192136|205182|335913|335934|335936|342273|342275|343855|374551|375381|375618|445607|466655|505908|568293|570426|570512|570516|644946|644947|644948|644949|688643|726767|755360|771046|785367|791639|844239|844240|844241|903614|919675|949533|949534|960852", "text": "Congenital disorder of glycosylation type 2J" }, { - "baseId": "18691|136760|153138|165849|188286|263276|360903|360957|361048|361051|514173|590984", + "upstreamId": "18691|136760|153138|165849|188286|263276|360903|360957|361048|361051|514173|590984", "text": "Delayed gross motor development" }, { - "baseId": "18693|18694|101806|101807|101808|101809|101810|101813|101814|101815|101816|177623|190561|215543|237184|247139|329735|329736|329737|329741|329745|329752|340023|340035|340043|345725|345726|345729|345733|345736|345737|345741|347121|347131|347132|347134|347138|347143|347146|363851|439037|469054|490998|531758|585912|620603|620604|646662|646663|646664|688827|694183|694184|715669|715670|715671|727399|779830|785730|791825|846165|846166|846167|878337|878338|878339|878340|878341|878342|878343|878344|878345|878346|878347|878348|878349|878350|878351|878352|878353|878354|878355|878356|878357|880572|938212|958293|958294", + "upstreamId": "18693|18694|101806|101807|101808|101809|101810|101813|101814|101815|101816|177623|190561|215543|237184|247139|329735|329736|329737|329741|329745|329752|340023|340035|340043|345725|345726|345729|345733|345736|345737|345741|347121|347131|347132|347134|347138|347143|347146|363851|439037|469054|490998|531758|585912|620603|620604|646662|646663|646664|688827|694183|694184|715669|715670|715671|727399|779830|785730|791825|846165|846166|846167|878337|878338|878339|878340|878341|878342|878343|878344|878345|878346|878347|878348|878349|878350|878351|878352|878353|878354|878355|878356|878357|880572|938212|958293|958294", "text": "COG1 congenital disorder of glycosylation" }, { - "baseId": "18695|18696|18697|18698|18700|18704|18705|18707|18708|18709|18710|326105|326110|335786|342147|342148|343667|343668|614689|614690|620559|875790|875791|875792|875793|875794|875795|875796|875797|875798|875799|875800|875801|875802|875803|875804|876705", + "upstreamId": "18695|18696|18697|18698|18700|18704|18705|18707|18708|18709|18710|326105|326110|335786|342147|342148|343667|343668|614689|614690|620559|875790|875791|875792|875793|875794|875795|875796|875797|875798|875799|875800|875801|875802|875803|875804|876705", "text": "Norum disease" }, { - "baseId": "18699|18701|18703|18711|18712|18713", + "upstreamId": "18699|18701|18703|18711|18712|18713", "text": "Fish-eye disease" }, { - "baseId": "18714|18715|18716|18717|18718|18719|18720|18721|34023|34024|34025|98795|98796|98798|177324|196175|196176|271860|280056|280063|280067|280072|280077|280078|280403|280407|280409|280410|281724|281726|281735|281737|281738|281885|281886|281890|281891|389429|515730|515791|557251|587748|587749|627616|627617|627618|627619|627620|627621|695039|729986|729987|746338|789952|823748|823749|823750|823751|823752|864128|864129|864130|864131|864132|864133|864134|864135|864136|864137|865159|865160|865161|865162|921937|941859|973015", + "upstreamId": "18714|18715|18716|18717|18718|18719|18720|18721|34023|34024|34025|98795|98796|98798|177324|196175|196176|271860|280056|280063|280067|280072|280077|280078|280403|280407|280409|280410|281724|281726|281735|281737|281738|281885|281886|281890|281891|389429|515730|515791|557251|587748|587749|627616|627617|627618|627619|627620|627621|695039|729986|729987|746338|789952|823748|823749|823750|823751|823752|864128|864129|864130|864131|864132|864133|864134|864135|864136|864137|865159|865160|865161|865162|921937|941859|973015", "text": "UDPglucose-4-epimerase deficiency" }, { - "baseId": "18721", + "upstreamId": "18721", "text": "Galactose epimerase deficiency, severe" }, { - "baseId": "18724|18725|18727|18729|18730|18731|18735|18738|18741|18770|18775|18778|18779|18780|32929|45116|45118|48709|78994|80399|171199|171201|171204|171213|171217|172183|181222|181228|181233|181246|181247|181252|181258|187193|198011|198012|198013|198015|228126|228135|228146|228149|228151|228160|228179|228192|228206|230978|230982|243268|245525|245645|245773|245832|245946|246106|246122|246306|246513|281418|354088|354099|402821|434337", + "upstreamId": "18724|18725|18727|18729|18730|18731|18735|18738|18741|18770|18775|18778|18779|18780|32929|45116|45118|48709|78994|80399|171199|171201|171204|171213|171217|172183|181222|181228|181233|181246|181247|181252|181258|187193|198011|198012|198013|198015|228126|228135|228146|228149|228151|228160|228179|228192|228206|230978|230982|243268|245525|245645|245773|245832|245946|246106|246122|246306|246513|281418|354088|354099|402821|434337", "text": "Homozygous familial hypercholesterolemia" }, { - "baseId": "18730|509534", + "upstreamId": "18730|509534", "text": "Internal carotid artery dissection" }, { - "baseId": "18730|31479|360973|360979|485694|509534|677254", + "upstreamId": "18730|31479|360973|360979|485694|509534|677254", "text": "Aortic dissection" }, { - "baseId": "18730|509534", + "upstreamId": "18730|509534", "text": "Carotid artery dissection" }, { - "baseId": "18730|509534", + "upstreamId": "18730|509534", "text": "Carotid artery occlusion" }, { - "baseId": "18730|24258|24628|28692|509534|577760|794275|801188", + "upstreamId": "18730|24258|24628|28692|509534|577760|794275|801188", "text": "Stroke" }, { - "baseId": "18731|18779|45115|45116|45125|78990|171195|171196|171197|171198|171199|171200|171201|171202|171203|171204|171205|171206|171207|171208|171209|171210|171211|171212|171213|171214|171215|171216|171217|171218|171219|171220|171221|171222|171223|171224|172183", + "upstreamId": "18731|18779|45115|45116|45125|78990|171195|171196|171197|171198|171199|171200|171201|171202|171203|171204|171205|171206|171207|171208|171209|171210|171211|171212|171213|171214|171215|171216|171217|171218|171219|171220|171221|171222|171223|171224|172183", "text": "Hypercholesterolaemia" }, { - "baseId": "18740", + "upstreamId": "18740", "text": "FH LEIDEN 1" }, { - "baseId": "18787|18788|101415|101416|101417|101420|102028|102029|102030|177264|177270|192025|207942|236963|237091|268988|270351|270637|312324|312325|312330|312332|312333|312334|312338|312344|312345|318190|318194|318197|318211|318230|318232|318233|323637|323662|323664|324294|324295|324302|324303|324304|324312|324313|324348|324349|324351|324354|324355|324356|324363|325008|325019|325026|325052|325054|325058|325060|325061|325062|325065|329780|329783|331071|331073|361619|371237|371961|371963|372150|372151|372878|373874|441534|481251|489736|503438|514617|525871|526711|526714|577255|584329|589444|639686|640670|656110|687706|692928|692929|702192|768195|784295|787746|837938|839379|839380|839381|867019|867020|867021|867022|867023|867024|867025|867026|867027|867028|867029|867030|867031|867032|867033|867034|867035|867036|867037|867038|867039|867040|867041|926483|940202|956765|960776", + "upstreamId": "18787|18788|101415|101416|101417|101420|102028|102029|102030|177264|177270|192025|207942|236963|237091|268988|270351|270637|312324|312325|312330|312332|312333|312334|312338|312344|312345|318190|318194|318197|318211|318230|318232|318233|323637|323662|323664|324294|324295|324302|324303|324304|324312|324313|324348|324349|324351|324354|324355|324356|324363|325008|325019|325026|325052|325054|325058|325060|325061|325062|325065|329780|329783|331071|331073|361619|371237|371961|371963|372150|372151|372878|373874|441534|481251|489736|503438|514617|525871|526711|526714|577255|584329|589444|639686|640670|656110|687706|692928|692929|702192|768195|784295|787746|837938|839379|839380|839381|867019|867020|867021|867022|867023|867024|867025|867026|867027|867028|867029|867030|867031|867032|867033|867034|867035|867036|867037|867038|867039|867040|867041|926483|940202|956765|960776", "text": "ALG9 congenital disorder of glycosylation" }, { - "baseId": "18789|18790|18791|18792|18793|18794|18795|18796|18797|18798|18799|18800|18801|18802|18803|18804|18805|18806|18807|18808|39583|76508|76509|227033|309712|309715|309716|309717|314566|314567|314569|314571|314572|314573|320639|320640|321156|321157|321166|321169|321178|682859|730676|865585|865586|865587|865588|865589|865590|865591|865592|865593|865594", + "upstreamId": "18789|18790|18791|18792|18793|18794|18795|18796|18797|18798|18799|18800|18801|18802|18803|18804|18805|18806|18807|18808|39583|76508|76509|227033|309712|309715|309716|309717|314566|314567|314569|314571|314572|314573|320639|320640|321156|321157|321166|321169|321178|682859|730676|865585|865586|865587|865588|865589|865590|865591|865592|865593|865594", "text": "Congenital erythropoietic porphyria" }, { - "baseId": "18809|44159|44160|44161|44162|44163|178747|178748|222810|222811|222812|222813|222814|224554|224555|227408|243372|243373|243374|243375|243376|243377|243378|243379|243380|243381|243382|257190|259034|259037|259041|334051|334052|334054|334064|334067|334068|334074|343979|343983|343989|343991|343992|343993|344000|344001|344007|349247|349248|349251|349253|349255|349256|349259|349260|350202|350205|350206|350209|350213|350216|350217|350218|350219|350222|350225|350226|360403|376641|376642|377589|377817|377819|377844|403298|403304|403317|403360|403362|403368|403370|403771|403776|403777|403817|403826|403833|403837|403838|404840|410647|410648|424964|446168|446169|468160|468947|468951|468952|469458|469925|469930|470372|470375|470377|470378|470379|470390|470392|470395|471071|471075|471078|471081|471084|482196|506927|507098|507485|507503|507915|510805|512429|513378|514766|533114|533116|533120|533201|533221|533223|533637|533642|533644|570904|570908|570919|570920|572604|572606|573223|573227|573229|575004|575005|610143|620645|620908|620909|620910|648233|648234|648235|648236|648237|648238|648239|648240|648241|648242|648243|648244|648245|648246|648247|648248|648249|648250|653509|653622|656585|679475|689118|689123|689125|690222|742049|772801|800140|800141|800142|800143|800144|800145|821278|821279|821280|847829|847830|847831|847832|847833|847834|847835|847836|847837|847838|847839|847840|847841|847842|847843|847844|847845|847846|847847|847848|847849|847850|847851|847852|852983|882298|882299|882300|882301|882302|882303|882304|882305|882306|882307|882308|882309|882310|882311|882312|882313|882314|882315|882316|882317|882318|882319|882320|882321|882322|882323|882324|882325|882326|882327|882916|919882|919883|919884|929024|929025|929026|929027|929028|929029|938770|938771|938772|938773|938774|938775|938776|940488|941237|950847|950848|950849|950850|950851|950852|950853|950854|950855|950856|950857|950858|958686|958687|958688|958689|960296|960297|964524|964694", + "upstreamId": "18809|44159|44160|44161|44162|44163|178747|178748|222810|222811|222812|222813|222814|224554|224555|227408|243372|243373|243374|243375|243376|243377|243378|243379|243380|243381|243382|257190|259034|259037|259041|334051|334052|334054|334064|334067|334068|334074|343979|343983|343989|343991|343992|343993|344000|344001|344007|349247|349248|349251|349253|349255|349256|349259|349260|350202|350205|350206|350209|350213|350216|350217|350218|350219|350222|350225|350226|360403|376641|376642|377589|377817|377819|377844|403298|403304|403317|403360|403362|403368|403370|403771|403776|403777|403817|403826|403833|403837|403838|404840|410647|410648|424964|446168|446169|468160|468947|468951|468952|469458|469925|469930|470372|470375|470377|470378|470379|470390|470392|470395|471071|471075|471078|471081|471084|482196|506927|507098|507485|507503|507915|510805|512429|513378|514766|533114|533116|533120|533201|533221|533223|533637|533642|533644|570904|570908|570919|570920|572604|572606|573223|573227|573229|575004|575005|610143|620645|620908|620909|620910|648233|648234|648235|648236|648237|648238|648239|648240|648241|648242|648243|648244|648245|648246|648247|648248|648249|648250|653509|653622|656585|679475|689118|689123|689125|690222|742049|772801|800140|800141|800142|800143|800144|800145|821278|821279|821280|847829|847830|847831|847832|847833|847834|847835|847836|847837|847838|847839|847840|847841|847842|847843|847844|847845|847846|847847|847848|847849|847850|847851|847852|852983|882298|882299|882300|882301|882302|882303|882304|882305|882306|882307|882308|882309|882310|882311|882312|882313|882314|882315|882316|882317|882318|882319|882320|882321|882322|882323|882324|882325|882326|882327|882916|919882|919883|919884|929024|929025|929026|929027|929028|929029|938770|938771|938772|938773|938774|938775|938776|940488|941237|950847|950848|950849|950850|950851|950852|950853|950854|950855|950856|950857|950858|958686|958687|958688|958689|960296|960297|964524|964694", "text": "Progressive familial heart block type IB" }, { - "baseId": "18810|18811|18812|18812|18813|18813|18814|18814|18814|18815|18816|18816|18817|18818|18820|18822|18823|18825|18826|18827|18828|18829|18829|18830|18831|18832|18833|18833|18834|18834|18835|18837|18838|18839|18840|18841|18842|18843|18844|18845|18846|18846|48497|105415|105416|105416|105421|105430|105430|105431|105437|105442|105454|105454|105459|105461|105464|105471|105472|105472|105476|153856|153857|153858|153858|207917|207918|207919|207920|207921|207922|209323|360937|408495|408495|429322|429323|429324|429325|429328|429330|514014|576335|576336|576337|609215|609265|611978|614155|615954|615955|615956|615957|615966|624840|677125|983703", + "upstreamId": "18810|18811|18812|18812|18813|18813|18814|18814|18814|18815|18816|18816|18817|18818|18820|18822|18823|18825|18826|18827|18828|18829|18829|18830|18831|18832|18833|18833|18834|18834|18835|18837|18838|18839|18840|18841|18842|18843|18844|18845|18846|18846|48497|105415|105416|105416|105421|105430|105430|105431|105437|105442|105454|105454|105459|105461|105464|105471|105472|105472|105476|153856|153857|153858|153858|207917|207918|207919|207920|207921|207922|209323|360937|408495|408495|429322|429323|429324|429325|429328|429330|514014|576335|576336|576337|609215|609265|611978|614155|615954|615955|615956|615957|615966|624840|677125|983703", "text": "Tyrosinase-negative oculocutaneous albinism" }, { - "baseId": "18811|18846|18846|32632|104537|105416|360967|428912|429631|431770|431778|431850|431868|918182|918183|918502", + "upstreamId": "18811|18846|18846|32632|104537|105416|360967|428912|429631|431770|431778|431850|431868|918182|918183|918502", "text": "Albinism" }, { - "baseId": "18811|18812|18813|18816|18817|18818|18829|18840|105416|105437|105464|105472|133809|207921|254366|254367|272488|297312|299316|299318|303721|303762|303767|303809|303815|303828|303850|310952|310965|310975|315471|315472|316559|322332|328465|329772|329774|331409|337677|408495|429326|490993|491129|576336|587519|620424|654776|713243|868937|868938|868939|868940|868941|868942|868943|868944|868945|868946|868947", + "upstreamId": "18811|18812|18813|18816|18817|18818|18829|18840|105416|105437|105464|105472|133809|207921|254366|254367|272488|297312|299316|299318|303721|303762|303767|303809|303815|303828|303850|310952|310965|310975|315471|315472|316559|322332|328465|329772|329774|331409|337677|408495|429326|490993|491129|576336|587519|620424|654776|713243|868937|868938|868939|868940|868941|868942|868943|868944|868945|868946|868947", "text": "Oculocutaneous albinism" }, { - "baseId": "18811|18812|18812|18813|18814|18814|18815|18816|18816|18818|18829|18833|18833|18834|18846|18846|105416|105416|105430|105437|105454|105472|153856|153857|153858|408495|609265|677125|789139|789144", + "upstreamId": "18811|18812|18812|18813|18814|18814|18815|18816|18816|18818|18829|18833|18833|18834|18846|18846|105416|105416|105430|105437|105454|105472|153856|153857|153858|408495|609265|677125|789139|789144", "text": "Oculocutaneous albinism type 1B" }, { - "baseId": "18812|18813|18814|18816|18829|18833|18834|18846|105416|105430|105437|105454|105472|408495|682800", + "upstreamId": "18812|18813|18814|18816|18829|18833|18834|18846|105416|105430|105437|105454|105472|408495|682800", "text": "Albinism, ocular, with sensorineural deafness" }, { - "baseId": "18812|18813|18814|18816|18817|18818|18829|18833|18834|18846|105416|105430|105437|105454|105472|408495", + "upstreamId": "18812|18813|18814|18816|18817|18818|18829|18833|18834|18846|105416|105430|105437|105454|105472|408495", "text": "Skin/hair/eye pigmentation, variation in, 3" }, { - "baseId": "18818|18821", + "upstreamId": "18818|18821", "text": "Oculocutaneous albinism type 1, temperature sensitive" }, { - "baseId": "18818|38747|38747|229145|229146|229149|631792|828567|851093", + "upstreamId": "18818|38747|38747|229145|229146|229149|631792|828567|851093", "text": "Cutaneous malignant melanoma 8" }, { - "baseId": "18818", + "upstreamId": "18818", "text": "Skin/hair/eye pigmentation 3, blue/green eyes" }, { - "baseId": "18818", + "upstreamId": "18818", "text": "Autosomal recessive ocular albinism" }, { - "baseId": "18818|19699|19775|23388|23970|27831|28977|29349|29350|32712|39492|45219|46807|46822|47519|47731|50009|50078|50139|50242|50254|50266|50269|50284|66867|67139|67230|69099|69417|70148|97210|132096|132140|132179|132799|133157|133194|133401|133513|133528|133578|133652|133668|138033|138052|138088|138731|139188|139490|150524|151816|151840|152117|152722|180449|180494|180571|180715|181603|222845|241992|242393|242417|242432|245218|252373|267391|273927|299920|332443|338575|364161|398967|400520|402859|404368|408130|429594|457512|457879|460575|475258|488134|614353|623687|639417|645920|672038|677966|677967|677969|677980|781576|791049|921485|963277|963279|965841|969188|974882|975913|975914|976514", + "upstreamId": "18818|19699|19775|23388|23970|27831|28977|29349|29350|32712|39492|45219|46807|46822|47519|47731|50009|50078|50139|50242|50254|50266|50269|50284|66867|67139|67230|69099|69417|70148|97210|132096|132140|132179|132799|133157|133194|133401|133513|133528|133578|133652|133668|138033|138052|138088|138731|139188|139490|150524|151816|151840|152117|152722|180449|180494|180571|180715|181603|222845|241992|242393|242417|242432|245218|252373|267391|273927|299920|332443|338575|364161|398967|400520|402859|404368|408130|429594|457512|457879|460575|475258|488134|614353|623687|639417|645920|672038|677966|677967|677969|677980|781576|791049|921485|963277|963279|965841|969188|974882|975913|975914|976514", "text": "Malignant tumor of breast" }, { - "baseId": "18846", + "upstreamId": "18846", "text": "Hypopigmentation of hair" }, { - "baseId": "18846|188865|513965|514039", + "upstreamId": "18846|188865|513965|514039", "text": "Horizontal nystagmus" }, { - "baseId": "18846", + "upstreamId": "18846", "text": "Hypopigmentation of the skin" }, { - "baseId": "18846", + "upstreamId": "18846", "text": "Iris transillumination defect" }, { - "baseId": "18846|32418|33288|105416|223747|354298|360977|360978|360984|361099|513923|513982", + "upstreamId": "18846|32418|33288|105416|223747|354298|360977|360978|360984|361099|513923|513982", "text": "Myopia (disease)" }, { - "baseId": "18847|18849|18850|18851|18852|18853|18854", + "upstreamId": "18847|18849|18850|18851|18852|18853|18854", "text": "Chediak-Higashi syndrome, childhood type" }, { - "baseId": 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"text": "Ch\u00e9diak-Higashi syndrome" }, { - "baseId": "18848|18855|18856", + "upstreamId": "18848|18855|18856", "text": "Chediak-Higashi syndrome, adult type" }, { - "baseId": 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"text": "Galactosylceramide beta-galactosidase deficiency" }, { - "baseId": "18859|18860|18861|18862|18863|135830|198633|207983|318038|318043|318045|318046|318048|318049|318051|318052|318054|325941|325951|325952|325954|325955|325956|325958|332173|332177|332183|332193|332202|332205|332207|332209|332216|333664|333668|333678|333682|333689|364038|527277|527816|565627|571934|587801|609848|610989|610990|610991|612297|626219|641279|641280|641281|713637|738748|753503|753504|791260|791261|791262|840109|840110|840111|852693|870179|870180|870181|870182|870183|870184|870185|870186|870187|870188|870189|872269|872270|919457|936193|948108|948109|966600|976593|977258|980126", + "upstreamId": "18859|18860|18861|18862|18863|135830|198633|207983|318038|318043|318045|318046|318048|318049|318051|318052|318054|325941|325951|325952|325954|325955|325956|325958|332173|332177|332183|332193|332202|332205|332207|332209|332216|333664|333668|333678|333682|333689|364038|527277|527816|565627|571934|587801|609848|610989|610990|610991|612297|626219|641279|641280|641281|713637|738748|753503|753504|791260|791261|791262|840109|840110|840111|852693|870179|870180|870181|870182|870183|870184|870185|870186|870187|870188|870189|872269|872270|919457|936193|948108|948109|966600|976593|977258|980126", "text": "Isolated sulfite oxidase deficiency" }, { - "baseId": 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"text": "Deficiency of butyryl-CoA dehydrogenase" }, { - "baseId": "18877|18878|18879|18881|39566|39567|317122|317130|317132|317133|317142|317144|317145|317147|317148|317155|317165|324863|324864|324865|324868|324869|324882|324888|324889|324890|324892|324898|330964|330968|330973|330974|330979|330980|330993|330997|330998|331003|331004|331015|331026|332474|332478|332483|332492|332502|332509|332517|332519|332521|332522|332535|332544|332554|332556|332559|332560|462136|462177|462461|462467|462973|527166|527171|527705|527710|527713|527720|527727|565482|566839|571864|571871|641133|641134|641135|641136|641137|641138|641139|652490|652491|725089|725090|753364|769120|839927|839928|839929|839930|839931|839932|839933|858638|869817|869818|869819|869820|869821|869822|869823|869824|869825|869826|869827|869828|869829|869830|869831|869832|869833|869834|869835|869836|869837|869838|869839|869840|869841|872240|872241|918164|918165|926631|926632|936123|948020|948021|948022|948023|948024|956872", + 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receptor-associated kinase-4 deficiency" }, { - "baseId": "18880", + "upstreamId": "18880", "text": "Invasive pneumococcal disease, recurrent isolated" }, { - "baseId": "18881", + "upstreamId": "18881", "text": "Invasive pneumococcal disease, recurrent isolated, 1" }, { - "baseId": 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"text": "Wilson disease" }, { - "baseId": "18906|18907|18908|18909|18909|18910|18910|18911|143179|263935|276165|276166|276179|276180|276181|276183|276185|276193|276439|276441|276442|276451|276452|276822|276826|276827|276828|276839|276840|276862|276867|276871|276873|276874|276875|276900|353052|360801|440346|442598|442600|486843|513230|513231|515070|515071|515107|556570|558007|578359|621055|622857|626716|626718|626719|626720|626721|626722|706625|706626|718140|718141|718144|731632|731633|731634|743686|745613|745614|745615|745616|761125|761128|761129|761130|761131|761132|761134|761135|774384|778728|778765|780292|780293|780298|780299|786991|818843|822614|822615|822616|850730|862101|862102|862103|862104|862105|862106|862107|862108|862109|862110|864966|864967|904757|904758|930002|952036|952037|960402|977426|977427|977428|977429", + "upstreamId": 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+ "upstreamId": "18912|18913|18916|18917|18918|18920|18921|18923|18926|99101|99102|99104|99106|99109|99110|134669|134670|177100|177767|191343|192243|207281|237264|243984|252009|252014|259827|264274|265212|265239|273442|298037|298039|298041|298042|298045|300238|300239|300240|300243|304435|304439|304473|304767|304772|353735|353736|359710|361184|369935|384482|428465|428466|487070|488409|508808|520537|521242|521532|540588|543451|543460|543463|543468|543470|543474|543476|543478|543712|543714|543715|543716|543719|543723|543724|543726|543728|543730|543733|543735|543746|543804|543805|543807|543813|543817|543819|543821|543825|543829|543885|543886|543892|543894|543899|543907|543909|543911|543913|543923|543930|560486|562300|563219|565192|612273|612441|621203|621746|623141|634008|634009|634010|634011|634012|651266|691878|691879|695302|709996|749582|749583|765197|765199|775031|775043|782332|782333|788784|789251|795722|830942|830943|830944|830945|830946|830947|851036|851290|857404|858719|894657|894658|894659|894660|896129|896130|896131|906363|916959|916960|916961|924100|924101|932947|944650|954190|954191|954192|954193|954194|954195|954196|959771|971877|971878|971879|971880|971881|971882|971883|971884|971885|971886|972774|975786|978203|978204|978205|983740", "text": "Sandhoff disease" }, { - "baseId": "18913|99109", + "upstreamId": "18913|99109", "text": "HEXB POLYMORPHISM" }, { - "baseId": "18914|18916|18917", + "upstreamId": "18914|18916|18917", "text": "Sandhoff disease, juvenile type" }, { - "baseId": "18915", + "upstreamId": "18915", "text": "Hexosaminidase B (paris)" }, { - "baseId": "18917|18918", + "upstreamId": "18917|18918", "text": "Sandhoff disease, adult type" }, { - "baseId": "18920", + "upstreamId": "18920", "text": "HEXOSAMINIDASE B, HEAT-LABILE POLYMORPHISM" }, { - "baseId": "18921|18922|18924|18925|18926|543813", + "upstreamId": "18921|18922|18924|18925|18926|543813", "text": "Sandhoff disease, infantile type" }, { - "baseId": "18923", + "upstreamId": "18923", "text": "Sandhoff disease, chronic" }, { - "baseId": 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+ "upstreamId": "18928|18928|18929|18930|18931|18932|18933|18934|18935|18936|18937|18938|18939|18940|18943|18944|18945|18946|18947|18948|18949|18950|18951|18952|18953|18954|18956|18957|18958|18959|18961|18963|18964|18965|18966|18967|18968|18969|18970|18971|18972|18972|18973|18974|18975|18976|18977|18980|18981|38431|39563|99095|99096|99097|99098|99099|99100|106593|106594|106595|132034|186933|186934|186935|186936|186937|186938|186939|186940|191502|205779|214781|215043|215045|222992|222993|255344|255345|271317|272306|323287|323296|323309|332971|332973|332975|332980|339827|339828|339830|339842|339844|339848|339849|339851|341250|341255|341256|341257|341260|341265|341266|341267|341270|358302|358303|358304|358305|358306|358307|358308|358309|358310|358311|358312|358313|358314|358315|358316|361391|362115|362116|362117|362118|362119|362120|362121|362122|362123|362124|362125|362126|362127|362128|362129|362130|362131|373669|376623|400224|404823|409341|432438|432439|432440|432441|433602|438669|445415|465273|486124|487657|487757|487870|513352|529097|547520|547522|547525|547527|547529|547534|547537|547538|547540|547542|547545|547547|547549|547552|547553|547554|547559|547561|547562|547563|547564|547566|547567|547568|547570|547572|547579|547583|547585|547588|547594|547758|547760|547761|547766|547767|547769|547770|547773|547775|547778|547781|547783|547785|547787|547789|547794|547804|547805|547807|547815|547815|547817|547824|547825|547827|548183|548186|548188|548190|548193|548199|548202|548209|548211|548212|548214|548220|548222|548223|548225|548230|548237|548239|548251|548252|548254|548256|553391|569113|569591|610619|610620|650338|650344|650348|650349|650350|650351|650354|650355|650356|652704|685064|685068|685071|685072|689609|689610|689612|690127|690128|787911|791483|799818|818710|820732|820734|820735|850395|850397|850399|850404|850405|850406|850408|850409|850410|850418|861131|905953|906394|906395|917386|917538|920351|929858|939716|939717|939720|939721|940337|940338|951927|959397|959398|959399|960129|969129|972213|972214|972215|972216|972217|972218|972219|972220|972221|972222|972599|972776|975828|979657|979658|979659|979660", "text": "Tay-Sachs disease" }, { - "baseId": "18934|18938", + "upstreamId": "18934|18938", "text": "Gm2-gangliosidosis, juvenile" }, { - "baseId": "18935|18936|18960|18963", + "upstreamId": "18935|18936|18960|18963", "text": "Tay-Sachs disease, B1 variant" }, { - "baseId": "18935", + "upstreamId": "18935", "text": "Hexa, dn allele" }, { - "baseId": "18936", + "upstreamId": "18936", "text": "HEXA, Czechoslovakian allele" }, { - "baseId": "18937", + "upstreamId": "18937", "text": "Gm2-gangliosidosis, adult" }, { - "baseId": "18941", + "upstreamId": "18941", "text": "Tay-sachs disease, juvenile" }, { - "baseId": "18945|205779", + "upstreamId": "18945|205779", "text": "Gm2-gangliosidosis, chronic" }, { - "baseId": "18954", + "upstreamId": "18954", "text": "Gm2-gangliosidosis, adult-onset" }, { - "baseId": "18955", + "upstreamId": "18955", "text": "Gm2-gangliosidosis, variant b1" }, { - "baseId": "18961", + "upstreamId": "18961", "text": "Beta-hexosaminidase a, pseudodeficiency of" }, { - "baseId": "18966|18977|18978", + "upstreamId": "18966|18977|18978", "text": "Gm2-gangliosidosis, late onset" }, { - "baseId": "18967", + "upstreamId": "18967", "text": "Tay-sachs disease, juvenile/adult" }, { - "baseId": "18980|18982", + "upstreamId": "18980|18982", "text": "Gm2-gangliosidosis, subacute" }, { - "baseId": "18983|18985|18986|18988|18989|18990|18991|18995|18996|79141|79144|97584|97586|247342|247343|247344|254213|254214|314326|314327|314331|314340|320923|320924|320933|320933|320935|327001|327002|327010|327014|327019|327020|327022|327023|328074|328075|328082|372234|480575|480576|480577|495533|550316|610570|610571|614679|614680|614681|614682|614683|614684|614685|614686|614687|614688|622209|678025|678026|678027|678028|678029|678030|678031|678032|678033|678034|678035|678036|678037|679845|682856|685292|818637|858612|858613|868129|868130|868131|868132|868133|868134|868135|868136|868137|868138|868139|868140|868141|868142|868143|868144|868661|964366|967292|967293|967294|967295|967296|967297|967298|971298|971299|971300|971301|971302|971303|971304|971305|971306|971307|971308|971309|971310|971311|971312|971313|971314|971315|971316|971317|971318|971319|971320|971321|971322|971323|971324|971325|971326|971327|971328|971329", + "upstreamId": "18983|18985|18986|18988|18989|18990|18991|18995|18996|79141|79144|97584|97586|247342|247343|247344|254213|254214|314326|314327|314331|314340|320923|320924|320933|320933|320935|327001|327002|327010|327014|327019|327020|327022|327023|328074|328075|328082|372234|480575|480576|480577|495533|550316|610570|610571|614679|614680|614681|614682|614683|614684|614685|614686|614687|614688|622209|678025|678026|678027|678028|678029|678030|678031|678032|678033|678034|678035|678036|678037|679845|682856|685292|818637|858612|858613|868129|868130|868131|868132|868133|868134|868135|868136|868137|868138|868139|868140|868141|868142|868143|868144|868661|964366|967292|967293|967294|967295|967296|967297|967298|971298|971299|971300|971301|971302|971303|971304|971305|971306|971307|971308|971309|971310|971311|971312|971313|971314|971315|971316|971317|971318|971319|971320|971321|971322|971323|971324|971325|971326|971327|971328|971329", "text": "Hereditary angioedema type 1" }, { - "baseId": "18984|18985|18986|18987|18992|18993", + "upstreamId": "18984|18985|18986|18987|18992|18993", "text": "Hereditary C1 esterase inhibitor deficiency - dysfunctional factor" }, { - "baseId": "18994", + "upstreamId": "18994", "text": "Complement component 4, partial deficiency of, due to dysfunctional c1 inhibitor" }, { - "baseId": "18997|919042", + "upstreamId": "18997|919042", "text": "Gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to" }, { - "baseId": "18999|19000|19001|19002|19003|19004|19005|19006|19007|132591|132592|136009|136013|136014|136016|136019|136021|205571|205572|205573|205574|205575|205576|205577|205578|205579|205580|205581|205582|205583|205584|205585|205586|205587|205588|205589|205590|205591|205592|205593|205594|205595|205596|207166|207167|227281|251823|251826|264246|296428|296432|296434|296439|296447|296448|298255|298288|298295|298297|302407|302409|302417|302432|302447|302453|302454|302674|302689|368456|406663|425627|427123|428360|443725|443729|453886|454757|454758|454760|455608|455619|491478|492306|493014|495256|501366|513557|520536|520935|521172|521367|521403|521405|521411|560217|560219|560336|560338|562999|563000|564113|589686|633645|633646|633647|633648|633649|633650|633651|633652|633653|633654|651318|682733|691802|691803|691804|691805|691808|698945|698946|698947|698948|698949|698950|709735|782224|782225|782227|790527|790528|790529|790530|804847|821906|830545|830546|851026|906309|918935|918936|923951|923952|923953|923954|923955|932799|932800|932801|932802|932803|944497|954096|964247|965622|969775|971589|980323", + "upstreamId": 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"text": "Treacher Collins syndrome 1" }, { - "baseId": 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"text": "Alstrom syndrome" }, { - "baseId": "19015|19016|22015|27408|27409|27619|28691|28692|28693|28694|29022", + "upstreamId": "19015|19016|22015|27408|27409|27619|28691|28692|28693|28694|29022", "text": "Breast adenocarcinoma" }, { - "baseId": "19018|19019|19020|19021|19022|19023|19024|552302", + "upstreamId": "19018|19019|19020|19021|19022|19023|19024|552302", "text": "Friedreich's ataxia" }, { - "baseId": "19025|19026|19027|19028|19029|19031|19032|19033|19034|19035|71230", + "upstreamId": "19025|19026|19027|19028|19029|19031|19032|19033|19034|19035|71230", "text": "Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A3" }, { - "baseId": 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+ "upstreamId": 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"text": "Muscle eye brain disease" }, { - "baseId": 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+ "upstreamId": 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"text": "Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B3" }, { - "baseId": "19031|19031|19036|19036|19037|19039|19039|48318|71214|71217|71221|71221|71221|71225|71226|71231|71232|71232|71243|71243|71249|71249|101655|101656|101656|101658|135450|135450|142488|172203|172203|172204|172204|172205|172205|177975|195383|195383|195732|206819|206821|206823|206823|249977|259673|259673|265294|265294|267066|267551|267551|267566|267575|269177|269177|269306|269429|269471|269959|270384|270384|270402|270427|270503|271148|272350|272833|272864|273163|273823|273827|274248|274517|274517|274683|274722|275297|275297|275411|280745|280745|280746|280747|281212|281227|282490|282501|282502|282511|282511|359364|359364|365125|405212|405214|405214|427839|440513|442860|442860|442861|442862|446963|448087|448090|448090|448095|448182|448184|448190|448206|448211|448213|448216|448216|448224|448356|448358|491875|492078|492150|492161|492526|493660|498501|498524|498532|515972|515974|515978|516004|516022|516036|516040|516105|516109|516111|538948|541179|541285|541296|541296|556506|557091|557093|557095|557097|557318|557369|557371|557373|585546|587082|587489|588487|628115|628116|628117|628118|628119|628120|628121|628122|628123|628124|628125|628126|628127|628128|628129|628130|628130|628131|628131|628132|628133|628134|628135|650603|650604|650690|685813|690631|690633|690634|695053|696780|696780|707438|707439|718991|718993|732494|732494|732495|761996|761997|761998|774529|774537|774542|777082|777139|778833|780721|804984|818980|818981|824203|824204|824205|824206|824207|824208|824209|824210|824211|824212|824213|824214|824215|824216|824217|850802|864532|864533|864534|864535|864536|864537|864538|864538|864539|864540|865188|865189|922110|922111|922112|930583|930584|930585|930586|930587|930588|942018|942019|942020|942021|942022|942023|942024|952457|952458|952459|952460|952461|952462|959561|959562|959563|959564|959565", + "upstreamId": "19031|19031|19036|19036|19037|19039|19039|48318|71214|71217|71221|71221|71221|71225|71226|71231|71232|71232|71243|71243|71249|71249|101655|101656|101656|101658|135450|135450|142488|172203|172203|172204|172204|172205|172205|177975|195383|195383|195732|206819|206821|206823|206823|249977|259673|259673|265294|265294|267066|267551|267551|267566|267575|269177|269177|269306|269429|269471|269959|270384|270384|270402|270427|270503|271148|272350|272833|272864|273163|273823|273827|274248|274517|274517|274683|274722|275297|275297|275411|280745|280745|280746|280747|281212|281227|282490|282501|282502|282511|282511|359364|359364|365125|405212|405214|405214|427839|440513|442860|442860|442861|442862|446963|448087|448090|448090|448095|448182|448184|448190|448206|448211|448213|448216|448216|448224|448356|448358|491875|492078|492150|492161|492526|493660|498501|498524|498532|515972|515974|515978|516004|516022|516036|516040|516105|516109|516111|538948|541179|541285|541296|541296|556506|557091|557093|557095|557097|557318|557369|557371|557373|585546|587082|587489|588487|628115|628116|628117|628118|628119|628120|628121|628122|628123|628124|628125|628126|628127|628128|628129|628130|628130|628131|628131|628132|628133|628134|628135|650603|650604|650690|685813|690631|690633|690634|695053|696780|696780|707438|707439|718991|718993|732494|732494|732495|761996|761997|761998|774529|774537|774542|777082|777139|778833|780721|804984|818980|818981|824203|824204|824205|824206|824207|824208|824209|824210|824211|824212|824213|824214|824215|824216|824217|850802|864532|864533|864534|864535|864536|864537|864538|864538|864539|864540|865188|865189|922110|922111|922112|930583|930584|930585|930586|930587|930588|942018|942019|942020|942021|942022|942023|942024|952457|952458|952459|952460|952461|952462|959561|959562|959563|959564|959565", "text": "Limb-girdle muscular dystrophy-dystroglycanopathy, type C3" }, { - "baseId": "19031|19033|19039|71217|71221|71221|71231|71232|71243|71249|172204|172205|248803|248805|248807|248808|259673|269429|274517|275297|405212|405214|587057", + "upstreamId": "19031|19033|19039|71217|71221|71221|71231|71232|71243|71249|172204|172205|248803|248805|248807|248808|259673|269429|274517|275297|405212|405214|587057", "text": "Retinitis pigmentosa 76" }, { - "baseId": "19036|71232|101655|101656|101658|134731|134732|134733|134734|134735|135450|142488|172203|190323|195281|195383|195615|195925|195926|206823|229570|229571|249977|252661|265294|266194|266398|267551|269177|269303|270384|272620|273054|273827|273914|273915|280745|280746|280747|281212|281227|282490|282501|282502|282511|302341|302351|302352|302353|302363|302364|302368|302369|302374|302375|302377|302378|302385|302386|302391|302392|302397|302399|302400|302402|302406|302408|302410|305558|305560|305562|305563|305574|305575|305576|305579|305580|305588|305590|305592|305595|305613|305615|305616|305621|305625|305626|305632|305634|305641|305642|305643|305644|305646|305648|305649|305651|305653|305654|305656|305658|310371|310372|310382|310383|310385|310387|310390|310394|310396|310416|310426|310441|310445|310449|310451|310455|310459|310461|310482|310483|310489|310495|310498|310499|310500|310501|310508|310511|310513|310519|310523|310557|310564|310569|310587|310588|310590|310593|310596|310599|310602|310607|310627|310630|310632|310650|310654|310656|310657|310667|310669|310671|310672|310676|310678|337988|347603|352488|359364|369131|492150|501707|541296|588507|589630|619919|628130|628131|696780|732494|777643|864532|864533|864534|864535|864536|864537|864538|864539|864540|865188|865189|897756|897757|897758|897759|897760|897761|897762|897763|897764|897765|897766|897767|897768|897769|897770|897771|897772|897773|897774|897775|897776|897777|897778|897779|897780|897781|897782|897783|897784|897785|897786|897787|897788|897789|897790|897791|897792|897793|897794|897795|897796|897797|897798|897799|897800|897801|897802|897803|897804|897805|897806|897807|897808|897809|897810|897811|897812|897813|897814|897815|897816|897817|897818|897819|897820|897821|897822|897823|897824|897825|897826|897827|897828|897829|897830|900336", + "upstreamId": "19036|71232|101655|101656|101658|134731|134732|134733|134734|134735|135450|142488|172203|190323|195281|195383|195615|195925|195926|206823|229570|229571|249977|252661|265294|266194|266398|267551|269177|269303|270384|272620|273054|273827|273914|273915|280745|280746|280747|281212|281227|282490|282501|282502|282511|302341|302351|302352|302353|302363|302364|302368|302369|302374|302375|302377|302378|302385|302386|302391|302392|302397|302399|302400|302402|302406|302408|302410|305558|305560|305562|305563|305574|305575|305576|305579|305580|305588|305590|305592|305595|305613|305615|305616|305621|305625|305626|305632|305634|305641|305642|305643|305644|305646|305648|305649|305651|305653|305654|305656|305658|310371|310372|310382|310383|310385|310387|310390|310394|310396|310416|310426|310441|310445|310449|310451|310455|310459|310461|310482|310483|310489|310495|310498|310499|310500|310501|310508|310511|310513|310519|310523|310557|310564|310569|310587|310588|310590|310593|310596|310599|310602|310607|310627|310630|310632|310650|310654|310656|310657|310667|310669|310671|310672|310676|310678|337988|347603|352488|359364|369131|492150|501707|541296|588507|589630|619919|628130|628131|696780|732494|777643|864532|864533|864534|864535|864536|864537|864538|864539|864540|865188|865189|897756|897757|897758|897759|897760|897761|897762|897763|897764|897765|897766|897767|897768|897769|897770|897771|897772|897773|897774|897775|897776|897777|897778|897779|897780|897781|897782|897783|897784|897785|897786|897787|897788|897789|897790|897791|897792|897793|897794|897795|897796|897797|897798|897799|897800|897801|897802|897803|897804|897805|897806|897807|897808|897809|897810|897811|897812|897813|897814|897815|897816|897817|897818|897819|897820|897821|897822|897823|897824|897825|897826|897827|897828|897829|897830|900336", "text": "Congenital Muscular Dystrophy, alpha-dystroglycan related" }, { - "baseId": "19040|101273|177625|191238|227306|270301|301375|301390|301393|301397|301398|301402|301407|304561|304564|304566|304584|304589|304590|304591|304592|304595|304600|304601|304603|304608|304609|304610|304621|304622|309194|309199|309209|309212|309214|309224|309230|309231|309238|309239|309240|309241|309244|309246|309248|309251|309252|309253|309404|309413|309414|309416|309421|309426|309430|309431|309432|309440|368827|368831|369119|369417|370651|424652|424653|444040|455974|455978|456529|494135|502151|514549|521952|522360|561183|566256|583101|620246|620247|622373|626169|635441|635442|635443|635444|651629|655762|692097|692098|699734|710693|744257|765967|789118|805521|832774|832775|832776|832777|897133|897134|897135|897136|897137|897138|897139|897140|897141|897142|897143|897144|897145|897146|897147|897148|897149|897150|897151|897152|897153|897154|897155|897156|897157|897158|897159|897160|897161|897162|897163|897164|897165|897166|897167|897168|897169|897170|897171|897172|897173|897174|897175|900294|900295|900296|920234|921226|921227|921228|921230|921231|921232|921234|921235|940055|954978|960618", + "upstreamId": "19040|101273|177625|191238|227306|270301|301375|301390|301393|301397|301398|301402|301407|304561|304564|304566|304584|304589|304590|304591|304592|304595|304600|304601|304603|304608|304609|304610|304621|304622|309194|309199|309209|309212|309214|309224|309230|309231|309238|309239|309240|309241|309244|309246|309248|309251|309252|309253|309404|309413|309414|309416|309421|309426|309430|309431|309432|309440|368827|368831|369119|369417|370651|424652|424653|444040|455974|455978|456529|494135|502151|514549|521952|522360|561183|566256|583101|620246|620247|622373|626169|635441|635442|635443|635444|651629|655762|692097|692098|699734|710693|744257|765967|789118|805521|832774|832775|832776|832777|897133|897134|897135|897136|897137|897138|897139|897140|897141|897142|897143|897144|897145|897146|897147|897148|897149|897150|897151|897152|897153|897154|897155|897156|897157|897158|897159|897160|897161|897162|897163|897164|897165|897166|897167|897168|897169|897170|897171|897172|897173|897174|897175|900294|900295|900296|920234|921226|921227|921228|921230|921231|921232|921234|921235|940055|954978|960618", "text": "Congenital disorder of glycosylation type 2i" }, { - "baseId": "19041|19042|19043|278071|278075|278077|278079|278082|278083|278084|278087|278091|278092|278095|278096|278099|278100|278106|278107|278108|278109|278115|278118|278120|278121|278122|278123|278125|278126|278127|278129|278142|278149|278150|279035|279042|279044|279045|279049|279061|279070|279071|279073|279074|279078|279090|279091|279093|279108|279110|279112|279115|279240|279247|279248|279251|279252|279264|279265|279266|279269|279271|279272|279273|279276|279284|279287|432426|447327|447439|447541|447559|557070|627161|627162|627163|627164|650561|685590|685591|685592|685593|690429|690430|696328|731929|794509|801975|823054|823055|823056|823057|823058|863064|863065|863066|863067|863068|863069|863070|863071|863072|863073|863074|863075|863076|863077|863078|863079|863080|863081|863082|863083|863084|863085|863086|865067|865068|865069|865070|865071|865072|865073|865074|930185|952158|961748", + "upstreamId": "19041|19042|19043|278071|278075|278077|278079|278082|278083|278084|278087|278091|278092|278095|278096|278099|278100|278106|278107|278108|278109|278115|278118|278120|278121|278122|278123|278125|278126|278127|278129|278142|278149|278150|279035|279042|279044|279045|279049|279061|279070|279071|279073|279074|279078|279090|279091|279093|279108|279110|279112|279115|279240|279247|279248|279251|279252|279264|279265|279266|279269|279271|279272|279273|279276|279284|279287|432426|447327|447439|447541|447559|557070|627161|627162|627163|627164|650561|685590|685591|685592|685593|690429|690430|696328|731929|794509|801975|823054|823055|823056|823057|823058|863064|863065|863066|863067|863068|863069|863070|863071|863072|863073|863074|863075|863076|863077|863078|863079|863080|863081|863082|863083|863084|863085|863086|865067|865068|865069|865070|865071|865072|865073|865074|930185|952158|961748", "text": "Deficiency of pyrroline-5-carboxylate reductase" }, { - "baseId": "19044|19045|19046|19047|19048|19049|19050|19051|19052|469838|469884|469887|469889|469889|469891|470841|470907|470908|471319|471321|471326|471330|471334|471795|471796|534055|538494|538495|571658|573199|649178|649179|689259|689260|689262|694667|694668|773425|849028|849029|849030|849031|929396|939191|939192|951329|959021|959022|959023", + "upstreamId": "19044|19045|19046|19047|19048|19049|19050|19051|19052|469838|469884|469887|469889|469889|469891|470841|470907|470908|471319|471321|471326|471330|471334|471795|471796|534055|538494|538495|571658|573199|649178|649179|689259|689260|689262|694667|694668|773425|849028|849029|849030|849031|929396|939191|939192|951329|959021|959022|959023", "text": "Proline dehydrogenase deficiency" }, { - "baseId": "19044|19045|19046|19047|19048|19049|19050|19052|469889", + "upstreamId": "19044|19045|19046|19047|19048|19049|19050|19052|469889", "text": "Schizophrenia 4" }, { - "baseId": 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+ "upstreamId": 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"text": "Deafness, autosomal recessive 30" }, { - "baseId": "19056|19057|19058|99846|99847|99850|99852|99854|134263|134264|191241|191558|205796|266934|337138|337146|337152|337156|337166|346875|346885|346886|346888|346890|346901|346904|350939|350943|350946|350949|350952|350957|350961|351937|351941|351944|351954|378513|469836|470829|482221|493775|534022|534106|571656|620676|620677|620678|620679|649131|649132|649133|649134|649135|649136|694662|742710|742712|786537|821385|848982|848983|852417|852917|929387|951293|951294|951295|959012", + "upstreamId": "19056|19057|19058|99846|99847|99850|99852|99854|134263|134264|191241|191558|205796|266934|337138|337146|337152|337156|337166|346875|346885|346886|346888|346890|346901|346904|350939|350943|350946|350949|350952|350957|350961|351937|351941|351944|351954|378513|469836|470829|482221|493775|534022|534106|571656|620676|620677|620678|620679|649131|649132|649133|649134|649135|649136|694662|742710|742712|786537|821385|848982|848983|852417|852917|929387|951293|951294|951295|959012", "text": "GLUTAMATE FORMIMINOTRANSFERASE DEFICIENCY" }, { - "baseId": "19059", + "upstreamId": "19059", "text": "Acid alpha-glucosidase, allele 2" }, { - "baseId": 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"text": "Glycogen storage disease, type II" }, { - "baseId": "19060|19061|19064|19067|19068|610587", + "upstreamId": "19060|19061|19064|19067|19068|610587", "text": "Glycogen storage disease type II, infantile" }, { - "baseId": "19062|19063|19065|19066|19071|19074|19075", + "upstreamId": "19062|19063|19065|19066|19071|19074|19075", "text": "Glycogen storage disease II, adult form" }, { - "baseId": "19066|21965|27037|27039|31088|260196|358501|448519|620443|654717", + "upstreamId": "19066|21965|27037|27039|31088|260196|358501|448519|620443|654717", "text": "Glycogen storage disease" }, { - "baseId": "19069", + "upstreamId": "19069", "text": "Acid alpha-glucosidase, allele 4" }, { - "baseId": "19077|19078|131951|131952|508861|508862|967125", + "upstreamId": "19077|19078|131951|131952|508861|508862|967125", "text": "Ichthyosis, congenital, autosomal recessive 11" }, { - "baseId": 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"19079|19080|19081|19082|19083|19084|19085|19086|19087|19088|19089|19090|19091|19092|19093|85021|227221|250164|250165|250166|250167|250168|250170|250173|250174|250175|250292|281897|281899|281900|281992|281993|282058|282059|282078|282079|282084|282293|282528|282529|282630|282631|282633|282685|282693|282708|282739|282740|282742|282745|282996|282997|284188|284193|284202|284295|284298|284299|284300|284304|284339|284436|284439|284440|284444|284526|284528|284532|284533|284534|284535|284554|284555|284572|284575|284938|284947|284948|360819|361166|421275|576091|612258|612259|620033|697043|697044|697046|707747|707748|719276|719282|732794|762198|778886|790066|857345|881106|881107|881108|881109|881110|881111|881112|881113|881114|881115|881116|881117|881118|881119|881120|881121|881122|881127|881189|881190|881191|881194|881238|881239|881240|881241|881242|881243|881244|882802|882803|882804|882807|904876|918671|918674", "text": "Deficiency of iodide peroxidase" }, { - "baseId": "19094|19095|19096|19097|19098|19099|19100|101399|101400|101401|101402|101404|141935|141936|141937|141938|200300|247120|326464|326467|326476|326477|326481|326484|336230|336237|336238|336243|336247|336251|336259|336263|336265|336269|336271|336272|336274|336278|336281|336285|342469|342473|342476|342477|342480|342481|342482|342484|342486|342492|344131|344133|344134|344137|344138|344139|344142|344143|374618|375507|375520|375531|375532|375686|375687|409746|426185|466056|466065|466824|466832|467109|505543|530341|530344|530430|530435|530602|568428|569400|570537|570584|574190|645062|645063|645064|645065|688667|695707|740390|755428|820888|844413|844414|844415|844416|844417|844418|857403|876035|876036|876037|876038|876039|876040|876041|876042|876043|876044|876045|876046|876047|876048|876049|876050|876051|876052|876053|876054|876055|876056|876057|876058|876723|927977|927978|927979|927980|937643|937644|957902|957903", + "upstreamId": "19094|19095|19096|19097|19098|19099|19100|101399|101400|101401|101402|101404|141935|141936|141937|141938|200300|247120|326464|326467|326476|326477|326481|326484|336230|336237|336238|336243|336247|336251|336259|336263|336265|336269|336271|336272|336274|336278|336281|336285|342469|342473|342476|342477|342480|342481|342482|342484|342486|342492|344131|344133|344134|344137|344138|344139|344142|344143|374618|375507|375520|375531|375532|375686|375687|409746|426185|466056|466065|466824|466832|467109|505543|530341|530344|530430|530435|530602|568428|569400|570537|570584|574190|645062|645063|645064|645065|688667|695707|740390|755428|820888|844413|844414|844415|844416|844417|844418|857403|876035|876036|876037|876038|876039|876040|876041|876042|876043|876044|876045|876046|876047|876048|876049|876050|876051|876052|876053|876054|876055|876056|876057|876058|876723|927977|927978|927979|927980|937643|937644|957902|957903", "text": "Deficiency of malonyl-CoA decarboxylase" }, { - "baseId": 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+ "upstreamId": "19101|19102|19103|19104|187124|187125|227367|227368|237177|255228|255229|255230|255231|255232|255233|255234|255235|255236|255237|255238|255239|255240|255241|264574|271316|322584|322586|322587|322589|322590|322592|322604|322605|322607|322608|322612|322614|322618|322620|322621|322622|322624|322629|322632|322633|332060|332064|332068|332071|332074|332075|332080|332082|332084|332086|332092|332099|332110|332111|332127|332129|332138|332140|332145|332148|332152|332155|339022|339029|339031|339034|339040|339046|339047|339051|339063|339064|339065|339067|339070|339071|339087|339098|339102|339105|339106|339110|340593|340597|340603|340605|340607|340608|340609|340618|340619|340621|340634|340636|340637|340644|340646|364107|409243|409247|445329|512140|538442|609269|609270|620516|620517|620518|620519|620520|620521|620522|621483|626316|703228|703229|703230|714464|714465|726101|726104|730999|731001|739640|739646|739647|754473|754474|754476|754481|754483|770181|770183|778245|791454|873587|873588|873589|873590|873591|873592|873593|873594|873595|873596|873597|873598|873599|873600|873601|873602|873603|873604|873605|873606|873607|873608|873609|873610|873611|873612|873613|873614|873615|873616|873617|873618|873619|873620|873621|873622|873623|873624|873625|873626|873627|873628|873629|873630|873631|873632|873633|873634|873635|873636|873637|873638|873639|873640|873641|873642|873643|873644|873645|873646|873647|873648|873649|873650|873651|873652|873653|873654|873655|876519|876520|876521|876522|876523|876524|876525|876526|876527|903688|903691|903692|906176|973036", "text": "Thyroid dyshormonogenesis 6" }, { - "baseId": 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+ "upstreamId": "19105|19106|19108|19109|19110|19111|19112|39560|39561|39562|131935|131936|131937|131938|131939|131940|131941|131942|131943|131944|131945|131946|274485|335338|335358|335359|335360|335361|335369|335371|335374|335378|345199|345200|345203|345205|349932|349936|349937|349940|349941|349943|349944|350941|350942|350945|350947|350950|350951|350954|350955|350958|442289|471355|533596|537001|550312|571202|571210|572881|572886|573455|575091|575091|575092|575093|575094|583131|624677|648644|648645|648646|648647|648648|648649|648650|648651|648652|648653|648654|648655|648656|648657|648658|648659|653099|653196|653541|716950|731341|757494|757495|757496|757497|757500|757501|760951|773095|773096|776936|780209|786367|788077|788937|789389|791979|821319|821320|821321|821322|821323|821324|848363|848364|848365|848366|848367|848368|848369|848370|848371|848372|848373|848374|848375|848376|848377|848378|848379|851849|886058|886059|886060|886061|886062|886063|886064|886065|886066|886067|886068|886069|886070|886071|887457|887458|929174|929175|929176|929177|929178|938969|938970|938971|938972|940508|951087|951088|951089|958830|958831|958832|958833|958834|965449", "text": "Aicardi Goutieres syndrome 5" }, { - "baseId": "19113|19114|19115|678038", + "upstreamId": "19113|19114|19115|678038", "text": "Atrial septal defect 6" }, { - "baseId": "19116|19117|19118|19119|19120|19121|19122|19123|19124|19125|39557|39558|78985|78987|78989|106596|134235|134236|140505|190553|195734|202867|202869|202871|202871|202880|202895|202896|217194|332905|361660|445413|465133|489664|513349|513350|513351|513633|547494|547496|547501|547502|547504|547505|547512|547515|547518|547519|547521|547731|547732|547734|547736|547737|548146|548148|548159|551390|551391|551392|551393|569589|612357|802207|858717|906332|972210|972211|972212", + "upstreamId": "19116|19117|19118|19119|19120|19121|19122|19123|19124|19125|39557|39558|78985|78987|78989|106596|134235|134236|140505|190553|195734|202867|202869|202871|202871|202880|202895|202896|217194|332905|361660|445413|465133|489664|513349|513350|513351|513633|547494|547496|547501|547502|547504|547505|547512|547515|547518|547519|547521|547731|547732|547734|547736|547737|548146|548148|548159|551390|551391|551392|551393|569589|612357|802207|858717|906332|972210|972211|972212", "text": "Neuronal ceroid lipofuscinosis 6" }, { - "baseId": 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+ "upstreamId": 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"text": "Diastrophic dysplasia" }, { - "baseId": 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+ "upstreamId": "19126|19126|19127|19128|19128|19129|19130|19130|19131|19131|19136|19136|19137|19137|70653|70655|70657|70662|75348|76466|76466|76467|76467|76468|193370|193372|193372|228215|251814|251814|251815|251815|251816|251816|251817|251817|265354|265354|265355|265355|267147|267147|268613|274270|274270|296301|296302|296303|296306|296306|296314|296316|296323|296325|296328|296332|296335|296337|296339|296341|296346|296347|296348|296354|296356|296360|298117|298139|298140|298144|298145|298146|298150|298151|298155|298163|298166|298167|298181|298182|298188|302172|302178|302181|302182|302183|302183|302184|302187|302188|302193|302193|302195|302198|302203|302205|302209|302240|302241|302245|302246|302248|302250|302251|302270|302275|302276|302293|302298|302424|302427|302428|302433|302433|302435|302436|302437|302438|302440|302443|302450|302455|302466|302467|302481|302495|302498|357392|357393|357394|357395|357396|357396|357397|357398|357399|357400|357401|357402|357403|357403|357404|357405|357406|357407|357408|357409|357410|357411|414994|414994|487047|500718|543337|633630|633631|633632|633633|633634|655645|698914|709729|734929|734930|734932|830533|830534|830535|893524|893525|893526|893527|893528|893529|893530|893531|893532|893533|893534|893535|893536|893537|893538|893539|893540|893541|893542|893543|893544|893545|893546|893547|893548|893549|893550|893551|893552|893553|893554|893555|893556|893557|893558|893559|893560|893561|893562|893563|893564|893565|893566|893567|893568|893569|893570|893571|893572|893573|893574|893575|923947|932794|932795|944488|944489|944490|954090|954091|954092", "text": "Atelosteogenesis type II" }, { - "baseId": "19126|19126|19127|19128|19128|19130|19131|19131|19132|19133|19136|19136|19137|19137|70653|70655|70657|70662|75348|75348|76466|76466|76467|76467|76468|193370|193372|193372|251814|251814|251815|251815|251816|251816|251817|251817|265354|265354|265355|265355|267147|267147|268613|268613|274270|274270|296301|296302|296303|296306|296306|296314|296316|296323|296325|296328|296332|296335|296337|296339|296341|296346|296347|296348|296354|296356|296360|298117|298139|298140|298144|298145|298146|298150|298151|298155|298163|298166|298167|298181|298182|298188|302172|302178|302181|302182|302183|302183|302184|302187|302188|302193|302193|302195|302198|302203|302205|302209|302240|302241|302245|302246|302248|302250|302251|302270|302275|302276|302293|302298|302424|302427|302428|302433|302433|302435|302436|302437|302438|302440|302443|302450|302455|302466|302467|302481|302495|302498|357392|357393|357394|357395|357396|357396|357397|357398|357399|357400|357401|357402|357403|357403|357404|357405|357406|357407|357408|357409|357410|357411|414994|414994|487047|500718|543337|633630|633631|633632|633633|633634|633634|655645|655645|698914|709729|709729|734929|734929|734930|734932|782214|805081|830533|830534|830535|893524|893525|893526|893527|893528|893529|893530|893531|893532|893533|893534|893535|893536|893537|893538|893539|893540|893541|893542|893543|893544|893545|893546|893547|893548|893549|893550|893551|893552|893553|893554|893555|893556|893557|893558|893559|893560|893561|893562|893563|893564|893565|893566|893567|893568|893569|893570|893571|893572|893573|893574|893575|923947|932794|932795|944488|944489|944490|954090|954091|954092|964243|978156|978157|978158|978159", + "upstreamId": "19126|19126|19127|19128|19128|19130|19131|19131|19132|19133|19136|19136|19137|19137|70653|70655|70657|70662|75348|75348|76466|76466|76467|76467|76468|193370|193372|193372|251814|251814|251815|251815|251816|251816|251817|251817|265354|265354|265355|265355|267147|267147|268613|268613|274270|274270|296301|296302|296303|296306|296306|296314|296316|296323|296325|296328|296332|296335|296337|296339|296341|296346|296347|296348|296354|296356|296360|298117|298139|298140|298144|298145|298146|298150|298151|298155|298163|298166|298167|298181|298182|298188|302172|302178|302181|302182|302183|302183|302184|302187|302188|302193|302193|302195|302198|302203|302205|302209|302240|302241|302245|302246|302248|302250|302251|302270|302275|302276|302293|302298|302424|302427|302428|302433|302433|302435|302436|302437|302438|302440|302443|302450|302455|302466|302467|302481|302495|302498|357392|357393|357394|357395|357396|357396|357397|357398|357399|357400|357401|357402|357403|357403|357404|357405|357406|357407|357408|357409|357410|357411|414994|414994|487047|500718|543337|633630|633631|633632|633633|633634|633634|655645|655645|698914|709729|709729|734929|734929|734930|734932|782214|805081|830533|830534|830535|893524|893525|893526|893527|893528|893529|893530|893531|893532|893533|893534|893535|893536|893537|893538|893539|893540|893541|893542|893543|893544|893545|893546|893547|893548|893549|893550|893551|893552|893553|893554|893555|893556|893557|893558|893559|893560|893561|893562|893563|893564|893565|893566|893567|893568|893569|893570|893571|893572|893573|893574|893575|923947|932794|932795|944488|944489|944490|954090|954091|954092|964243|978156|978157|978158|978159", "text": "Achondrogenesis, type IB" }, { - "baseId": "19126|19128|19131|19136|19137|70665|70666|76466|76467|76468|186695|193370|193372|251814|251815|251816|251817|265354|265355|267147|274270|296301|296302|296303|296306|296314|296316|296323|296325|296328|296332|296335|296337|296339|296341|296346|296347|296348|296354|296356|296360|298117|298139|298140|298144|298145|298146|298149|298150|298151|298155|298163|298164|298165|298166|298167|298173|298181|298182|298188|302172|302178|302181|302182|302183|302184|302187|302188|302193|302195|302198|302203|302205|302208|302209|302240|302241|302245|302246|302248|302250|302251|302270|302275|302276|302293|302298|302424|302427|302428|302433|302435|302436|302437|302438|302439|302440|302443|302450|302455|302466|302467|302480|302481|302486|302487|302495|302498|357396|414994|487047|543810|610502|610503|610504|610505|610506|610507|610508|610509|893524|893525|893526|893527|893528|893529|893530|893531|893532|893533|893534|893535|893536|893537|893538|893539|893540|893541|893542|893543|893544|893545|893546|893547|893548|893549|893550|893551|893552|893553|893554|893555|893556|893557|893558|893559|893560|893561|893562|893563|893564|893565|893566|893567|893568|893569|893570|893571|893572|893573|893574|893575|916952|916953|965835", + "upstreamId": "19126|19128|19131|19136|19137|70665|70666|76466|76467|76468|186695|193370|193372|251814|251815|251816|251817|265354|265355|267147|274270|296301|296302|296303|296306|296314|296316|296323|296325|296328|296332|296335|296337|296339|296341|296346|296347|296348|296354|296356|296360|298117|298139|298140|298144|298145|298146|298149|298150|298151|298155|298163|298164|298165|298166|298167|298173|298181|298182|298188|302172|302178|302181|302182|302183|302184|302187|302188|302193|302195|302198|302203|302205|302208|302209|302240|302241|302245|302246|302248|302250|302251|302270|302275|302276|302293|302298|302424|302427|302428|302433|302435|302436|302437|302438|302439|302440|302443|302450|302455|302466|302467|302480|302481|302486|302487|302495|302498|357396|414994|487047|543810|610502|610503|610504|610505|610506|610507|610508|610509|893524|893525|893526|893527|893528|893529|893530|893531|893532|893533|893534|893535|893536|893537|893538|893539|893540|893541|893542|893543|893544|893545|893546|893547|893548|893549|893550|893551|893552|893553|893554|893555|893556|893557|893558|893559|893560|893561|893562|893563|893564|893565|893566|893567|893568|893569|893570|893571|893572|893573|893574|893575|916952|916953|965835", "text": "Osteochondrodysplasia" }, { - "baseId": "19126|19127|19128|19128|19129|19130|19130|19131|19131|19133|19136|19136|19137|19137|70653|70655|70655|70657|70662|70666|75348|76466|76466|76467|76467|76468|186695|193370|193372|193372|251814|251814|251815|251815|251816|251816|251817|251817|265354|265354|265355|265355|267147|267147|268613|274270|274270|296301|296302|296303|296306|296306|296314|296316|296323|296325|296328|296332|296335|296337|296339|296341|296346|296347|296348|296354|296356|296360|298117|298139|298140|298144|298145|298146|298149|298150|298151|298155|298163|298164|298165|298166|298167|298173|298181|298182|298188|302172|302178|302181|302182|302183|302183|302184|302187|302188|302193|302193|302195|302198|302203|302205|302208|302209|302240|302241|302245|302246|302248|302250|302251|302270|302275|302276|302293|302298|302424|302427|302428|302433|302433|302435|302436|302437|302438|302439|302440|302443|302450|302455|302466|302467|302480|302481|302486|302487|302495|302498|357392|357393|357394|357395|357396|357396|357397|357398|357399|357400|357401|357402|357403|357403|357404|357405|357406|357407|357408|357409|357410|357411|414994|414994|487047|500718|543326|543337|543337|543341|543348|543351|543354|543356|543359|543362|543602|543605|543608|543613|543615|543624|543703|543705|543706|543708|543710|543711|543718|543725|543795|543796|543797|543798|543801|543806|543809|543810|543812|612468|633630|633631|633632|633633|633634|655645|698914|709729|734929|734930|734932|830533|830534|830535|893524|893525|893526|893527|893528|893529|893530|893531|893532|893533|893534|893535|893536|893537|893538|893539|893540|893541|893542|893543|893544|893545|893546|893547|893548|893549|893550|893551|893552|893553|893554|893555|893556|893557|893558|893559|893560|893561|893562|893563|893564|893565|893566|893567|893568|893569|893570|893571|893572|893573|893574|893575|923947|932794|932795|944488|944489|944490|954090|954091|954092", + "upstreamId": "19126|19127|19128|19128|19129|19130|19130|19131|19131|19133|19136|19136|19137|19137|70653|70655|70655|70657|70662|70666|75348|76466|76466|76467|76467|76468|186695|193370|193372|193372|251814|251814|251815|251815|251816|251816|251817|251817|265354|265354|265355|265355|267147|267147|268613|274270|274270|296301|296302|296303|296306|296306|296314|296316|296323|296325|296328|296332|296335|296337|296339|296341|296346|296347|296348|296354|296356|296360|298117|298139|298140|298144|298145|298146|298149|298150|298151|298155|298163|298164|298165|298166|298167|298173|298181|298182|298188|302172|302178|302181|302182|302183|302183|302184|302187|302188|302193|302193|302195|302198|302203|302205|302208|302209|302240|302241|302245|302246|302248|302250|302251|302270|302275|302276|302293|302298|302424|302427|302428|302433|302433|302435|302436|302437|302438|302439|302440|302443|302450|302455|302466|302467|302480|302481|302486|302487|302495|302498|357392|357393|357394|357395|357396|357396|357397|357398|357399|357400|357401|357402|357403|357403|357404|357405|357406|357407|357408|357409|357410|357411|414994|414994|487047|500718|543326|543337|543337|543341|543348|543351|543354|543356|543359|543362|543602|543605|543608|543613|543615|543624|543703|543705|543706|543708|543710|543711|543718|543725|543795|543796|543797|543798|543801|543806|543809|543810|543812|612468|633630|633631|633632|633633|633634|655645|698914|709729|734929|734930|734932|830533|830534|830535|893524|893525|893526|893527|893528|893529|893530|893531|893532|893533|893534|893535|893536|893537|893538|893539|893540|893541|893542|893543|893544|893545|893546|893547|893548|893549|893550|893551|893552|893553|893554|893555|893556|893557|893558|893559|893560|893561|893562|893563|893564|893565|893566|893567|893568|893569|893570|893571|893572|893573|893574|893575|923947|932794|932795|944488|944489|944490|954090|954091|954092", "text": "Multiple epiphyseal dysplasia type 4" }, { - "baseId": "19128|19131|19136|70655|543810", + "upstreamId": "19128|19131|19136|70655|543810", "text": "SLC26A2-Related Disorders" }, { - "baseId": "19128|19131|19136|19137|39925|39926|39927|39928|39929|39930|626129|980445", + "upstreamId": "19128|19131|19136|19137|39925|39926|39927|39928|39929|39930|626129|980445", "text": "3MC syndrome 2" }, { - "baseId": "19135", + "upstreamId": "19135", "text": "Diastrophic dysplasia, broad bone-platyspondylic variant" }, { - "baseId": "19138", + "upstreamId": "19138", "text": "de la Chapelle dysplasia" }, { - "baseId": "19140|135486|135487|135488|207097|207102|207105|292107|292108|292111|292116|292120|292132|292133|292140|292141|293542|293547|293551|293552|293553|293555|293561|296835|296843|296853|296856|296857|296860|296867|296869|296872|296874|296875|296876|296879|296881|296882|428256|428262|434590|439129|620143|620144|620145|620772|622337|709136|720719|720720|748686|890023|890024|890025|890026|890027|890028|890029|890030|890031|890032|890033|890034|890035|890036|890037|890038|890039|890040|890041|890042|890043|890044|890045|890046|890047|890048|890049|890050|890051|890052|890053|890054|890055|890056|890057|890058|890059|890060|890061|890062|890063|891743|891744|891745|891746|891747", + "upstreamId": "19140|135486|135487|135488|207097|207102|207105|292107|292108|292111|292116|292120|292132|292133|292140|292141|293542|293547|293551|293552|293553|293555|293561|296835|296843|296853|296856|296857|296860|296867|296869|296872|296874|296875|296876|296879|296881|296882|428256|428262|434590|439129|620143|620144|620145|620772|622337|709136|720719|720720|748686|890023|890024|890025|890026|890027|890028|890029|890030|890031|890032|890033|890034|890035|890036|890037|890038|890039|890040|890041|890042|890043|890044|890045|890046|890047|890048|890049|890050|890051|890052|890053|890054|890055|890056|890057|890058|890059|890060|890061|890062|890063|891743|891744|891745|891746|891747", "text": "Mental retardation, autosomal recessive 1" }, { - "baseId": "19141|19144|57024|57025|57027|57032|57033|57035|57037|57038|57041|88600|174571|174574|174847|174849|181568|270989|308677|308678|308681|308682|308683|313238|313243|313249|313250|313251|313261|313269|319058|319061|319062|319063|319071|319072|319073|319074|319680|319687|319688|404781|404782|497055|536777|585701|796330|902290|902291|902292|902293|902294|902295|902296|902297|902298|902299|902300|902301|902302|902303|902304", + "upstreamId": "19141|19144|57024|57025|57027|57032|57033|57035|57037|57038|57041|88600|174571|174574|174847|174849|181568|270989|308677|308678|308681|308682|308683|313238|313243|313249|313250|313251|313261|313269|319058|319061|319062|319063|319071|319072|319073|319074|319680|319687|319688|404781|404782|497055|536777|585701|796330|902290|902291|902292|902293|902294|902295|902296|902297|902298|902299|902300|902301|902302|902303|902304", "text": "Deafness, autosomal dominant 36" }, { - "baseId": "19142|19143|19145|19146|57024|57025|57027|57028|57032|57033|57035|57037|57038|57041|88600|174571|174574|174847|174849|229701|229709|237604|237605|270989|272121|308677|308678|308681|308682|308683|313238|313243|313249|313250|313251|313261|313269|319058|319061|319062|319063|319071|319072|319073|319074|319680|319687|319688|389230|404781|404782|497055|536777|553259|553260|585701|610566|611985|615807|622690|790916|796330|902290|902291|902292|902293|902294|902295|902296|902297|902298|902299|902300|902301|902302|902303|902304|919238", + "upstreamId": "19142|19143|19145|19146|57024|57025|57027|57028|57032|57033|57035|57037|57038|57041|88600|174571|174574|174847|174849|229701|229709|237604|237605|270989|272121|308677|308678|308681|308682|308683|313238|313243|313249|313250|313251|313261|313269|319058|319061|319062|319063|319071|319072|319073|319074|319680|319687|319688|389230|404781|404782|497055|536777|553259|553260|585701|610566|611985|615807|622690|790916|796330|902290|902291|902292|902293|902294|902295|902296|902297|902298|902299|902300|902301|902302|902303|902304|919238", "text": "Deafness, autosomal recessive 7" }, { - "baseId": 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"text": "Autosomal recessive polycystic kidney disease" }, { - "baseId": "19147", + "upstreamId": "19147", "text": "Colorectal cancer, protection against" }, { - "baseId": "19147|360881", + "upstreamId": "19147|360881", "text": "Periportal fibrosis" }, { - "baseId": "19147|19153|102029|186711|195475|581284|581285|581286|581287|581289|581290|581292|581293|619856|620235|626409|626410|626411|672253|672254|672303", + "upstreamId": "19147|19153|102029|186711|195475|581284|581285|581286|581287|581289|581290|581292|581293|619856|620235|626409|626410|626411|672253|672254|672303", "text": "Polycystic liver disease" }, { - "baseId": 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"text": "Leukoencephalopathy with vanishing white matter" }, { - "baseId": "19160|19161|19375|19377|19378|19379|20984|20987", + "upstreamId": "19160|19161|19375|19377|19378|19379|20984|20987", "text": "Ovarioleukodystrophy" }, { - "baseId": 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"19164|19165|19166|19167|19168|19169|19170|19171|19172|34528|34530|34531|208781|208783|208784|231136|231137|257586|257587|271892|274088|337646|337654|337662|337664|337666|337668|337672|337675|337677|337679|337684|337697|337698|337701|347221|347246|347247|347249|347252|347255|347257|347261|347268|351232|351235|351239|351240|351243|351247|351248|351253|351254|351257|351258|351260|351264|351265|351268|352275|352309|352310|352311|352312|352313|352314|352315|352317|352319|352325|493526|729115|742832|745341|758018|758019|890977|890978|890979|890980|890981|890982|890984|890985|890986|890987|890988|890989|890990|890991|890993|890994|890996|890997|890998|890999|891000|891001|891002|891003|891004|891005|891006|891007|891008|891009|891010|891011|891012|891013|891014|891015|891016|891017|891018|891019|891020|891021|891022|891023|891814|891815", "text": "Hermansky-Pudlak syndrome 4" }, { - "baseId": "19173|19174|19175|19176|19177|19178|19179|19180|19181|19182|19183|19184|19185|101931|101940|101941|101949|101952|101953|101955|101956|101957|101971|101971|101976|168108|168109|168115|168116|168117|168118|168119|168120|168121|168122|168124|168126|168128|168130|168131|168132|168133|168135|168138|168140|168141|168142|168143|168144|168146|168147|168149|168150|168151|168152|168153|168155|168157|168158|168160|168161|168162|168164|168165|168168|168170|168171|168172|168174|168175|168176|168177|168178|168179|168180|168180|168181|168182|168183|168184|168185|168186|168187|168188|168190|168192|168193|168194|168195|168196|168197|168198|168199|168200|168202|168203|168204|168205|168206|168207|168208|168210|168211|168212|168213|168214|168215|168216|168217|168218|168219|168220|168221|168222|168223|168224|168225|168226|168227|168228|168229|168230|168231|168232|168233|168235|168236|168237|168238|168239|168240|168241|168242|168243|168243|168244|168246|168247|168248|168249|168250|168251|168252|168253|168254|168255|168256|168257|168258|168259|168260|168261|168262|168263|168264|168265|168266|168267|168269|168270|168271|168272|168273|168274|168275|168276|168278|168279|168280|168281|168282|168283|168284|168285|168286|168287|168288|168289|168294|168295|168296|168297|191835|191835|198625|205743|205744|207177|207178|207180|207181|207182|207183|207184|207185|207186|207187|207188|207189|207190|207191|207192|207193|207194|207195|207196|207197|207198|207199|207200|207201|207202|207203|207204|207205|207206|207207|209314|213557|213558|244157|264188|264205|298941|353894|368100|394967|424561|424893|428385|428387|428388|428390|428391|455687|481233|481433|500781|513278|521082|521439|521559|536308|537656|537776|537777|537778|537779|537780|537781|537782|537783|537784|537785|537786|552086|552087|611388|612189|624848|624849|625796|626150|633789|653868|653869|788776|789248|790539|790540|790541|790542|790543|790544|790545|790546|790547|798558|798559|830687|918944|918945|918946|918947|918948|918949|961648|963579|963581|964250|964251|966152|969736|970803|970804|971548|971549|976639|980324|980325", + "upstreamId": "19173|19174|19175|19176|19177|19178|19179|19180|19181|19182|19183|19184|19185|101931|101940|101941|101949|101952|101953|101955|101956|101957|101971|101971|101976|168108|168109|168115|168116|168117|168118|168119|168120|168121|168122|168124|168126|168128|168130|168131|168132|168133|168135|168138|168140|168141|168142|168143|168144|168146|168147|168149|168150|168151|168152|168153|168155|168157|168158|168160|168161|168162|168164|168165|168168|168170|168171|168172|168174|168175|168176|168177|168178|168179|168180|168180|168181|168182|168183|168184|168185|168186|168187|168188|168190|168192|168193|168194|168195|168196|168197|168198|168199|168200|168202|168203|168204|168205|168206|168207|168208|168210|168211|168212|168213|168214|168215|168216|168217|168218|168219|168220|168221|168222|168223|168224|168225|168226|168227|168228|168229|168230|168231|168232|168233|168235|168236|168237|168238|168239|168240|168241|168242|168243|168243|168244|168246|168247|168248|168249|168250|168251|168252|168253|168254|168255|168256|168257|168258|168259|168260|168261|168262|168263|168264|168265|168266|168267|168269|168270|168271|168272|168273|168274|168275|168276|168278|168279|168280|168281|168282|168283|168284|168285|168286|168287|168288|168289|168294|168295|168296|168297|191835|191835|198625|205743|205744|207177|207178|207180|207181|207182|207183|207184|207185|207186|207187|207188|207189|207190|207191|207192|207193|207194|207195|207196|207197|207198|207199|207200|207201|207202|207203|207204|207205|207206|207207|209314|213557|213558|244157|264188|264205|298941|353894|368100|394967|424561|424893|428385|428387|428388|428390|428391|455687|481233|481433|500781|513278|521082|521439|521559|536308|537656|537776|537777|537778|537779|537780|537781|537782|537783|537784|537785|537786|552086|552087|611388|612189|624848|624849|625796|626150|633789|653868|653869|788776|789248|790539|790540|790541|790542|790543|790544|790545|790546|790547|798558|798559|830687|918944|918945|918946|918947|918948|918949|961648|963579|963581|964250|964251|966152|969736|970803|970804|971548|971549|976639|980324|980325", "text": "Sotos syndrome 1" }, { - "baseId": "19186|19187|19188|19189|106031|106032|106036|106037|106038|106040|106041|227414|337627|337635|337637|337639|337641|347206|347207|347210|347212|351205|351206|351208|351211|351212|351215|351216|351219|351220|352222|352223|352225|352234|352235|352236|438924|439218|539103|620684|705837|717366|717367|792023|890940|890941|890942|890943|890944|890945|890946|890947|890948|890949|890950|890951|890952|890953|890954|890955|890956|890957|890958|890959|891812|961792", + "upstreamId": "19186|19187|19188|19189|106031|106032|106036|106037|106038|106040|106041|227414|337627|337635|337637|337639|337641|347206|347207|347210|347212|351205|351206|351208|351211|351212|351215|351216|351219|351220|352222|352223|352225|352234|352235|352236|438924|439218|539103|620684|705837|717366|717367|792023|890940|890941|890942|890943|890944|890945|890946|890947|890948|890949|890950|890951|890952|890953|890954|890955|890956|890957|890958|890959|891812|961792", "text": "Deficiency of beta-ureidopropionase" }, { - "baseId": "19190|19195|19196|429985", + "upstreamId": "19190|19195|19196|429985", "text": "Bernard-Soulier syndrome, type A1" }, { - "baseId": "19191", + "upstreamId": "19191", "text": "PLATELET GLYCOPROTEIN Ib POLYMORPHISM" }, { - "baseId": "19191|404833", + "upstreamId": "19191|404833", "text": "Nonarteritic anterior ischemic optic neuropathy, susceptibility to" }, { - "baseId": "19192|19194|404833|576180", + "upstreamId": "19192|19194|404833|576180", "text": "Pseudo von Willebrand disease" }, { - "baseId": "19193|19195|404833|576180", + "upstreamId": "19193|19195|404833|576180", "text": "Bernard-Soulier syndrome, type A2, autosomal dominant" }, { - "baseId": "19194", + "upstreamId": "19194", "text": "Impaired ristocetin-induced platelet aggregation" }, { - "baseId": "19198|26767|29868|29869|29870|29871|45767|205017|360849|424978", + "upstreamId": "19198|26767|29868|29869|29870|29871|45767|205017|360849|424978", "text": "Cryptorchidism" }, { - "baseId": "19199|19200|19201|39555|141164|141165|141166|141167|141168|141169|141171|141172|141173|210949|210951|210952|210956|210958|210959|210961|210964|210968|210970|289258|289259|289270|289271|289272|290038|290039|290042|290043|290044|290054|293119|293120|293121|293122|293125|293129|293141|293147|293519|293528|293531|293532|293543|293569|293571|293574|293575|293589|293590|293593|293594|361581|367003|513259|513606|513607|549907|578411|578446|620757|620758|626127|631021|654317|720276|720277|733888|748088|748089|748090|763713|763718|774813|790354|790355|800333|800334|800336|800337|800338|800339|800340|857615|888242|888243|888244|888245|888246|888247|888248|888249|888250|888251|888252|888253|888254|888255|888256|891597|918810|918811|977816|977817|977818|977819|977820", + "upstreamId": "19199|19200|19201|39555|141164|141165|141166|141167|141168|141169|141171|141172|141173|210949|210951|210952|210956|210958|210959|210961|210964|210968|210970|289258|289259|289270|289271|289272|290038|290039|290042|290043|290044|290054|293119|293120|293121|293122|293125|293129|293141|293147|293519|293528|293531|293532|293543|293569|293571|293574|293575|293589|293590|293593|293594|361581|367003|513259|513606|513607|549907|578411|578446|620757|620758|626127|631021|654317|720276|720277|733888|748088|748089|748090|763713|763718|774813|790354|790355|800333|800334|800336|800337|800338|800339|800340|857615|888242|888243|888244|888245|888246|888247|888248|888249|888250|888251|888252|888253|888254|888255|888256|891597|918810|918811|977816|977817|977818|977819|977820", "text": "Combined oxidative phosphorylation deficiency 1" }, { - "baseId": "19202", + "upstreamId": "19202", "text": "Vitiligo-associated multiple autoimmune disease susceptibility 1" }, { - "baseId": "19203|19204|19205|19206|198643|513725|961892|961893", + "upstreamId": "19203|19204|19205|19206|198643|513725|961892|961893", "text": "Enterokinase deficiency" }, { - "baseId": "19207|101552|101553|166171|191821|252482|252483|252484|252485|252486|252487|252489|272085|300963|300970|300971|300973|300974|300976|300977|300983|300984|300994|301000|301011|301012|301013|303905|303906|303909|303917|303926|303931|303933|303935|303961|303969|303973|303974|303981|303983|303987|308591|308592|308594|308603|308614|308616|308617|308618|308619|308623|308624|308626|308628|308629|308630|308633|308634|308635|308638|308640|308642|308644|308645|308650|308655|308658|308659|308663|308664|308669|308676|308679|308680|308686|308694|489127|489884|620243|626165|699647|750170|750175|750196|816506|832311|832312|832315|832328|859554|896791|896792|896793|896794|896795|896796|896797|896798|896799|896800|896801|896802|896803|896804|896805|896806|896807|896808|896809|896810|896811|896812|896813|896814|896815|896816|896817|896818|896819|896820|896821|896822|896823|896824|896825|896826|896827|896828|900261|900262|900263|900264|900265|900266|900267|919047|919048|919049|919050", + "upstreamId": "19207|101552|101553|166171|191821|252482|252483|252484|252485|252486|252487|252489|272085|300963|300970|300971|300973|300974|300976|300977|300983|300984|300994|301000|301011|301012|301013|303905|303906|303909|303917|303926|303931|303933|303935|303961|303969|303973|303974|303981|303983|303987|308591|308592|308594|308603|308614|308616|308617|308618|308619|308623|308624|308626|308628|308629|308630|308633|308634|308635|308638|308640|308642|308644|308645|308650|308655|308658|308659|308663|308664|308669|308676|308679|308680|308686|308694|489127|489884|620243|626165|699647|750170|750175|750196|816506|832311|832312|832315|832328|859554|896791|896792|896793|896794|896795|896796|896797|896798|896799|896800|896801|896802|896803|896804|896805|896806|896807|896808|896809|896810|896811|896812|896813|896814|896815|896816|896817|896818|896819|896820|896821|896822|896823|896824|896825|896826|896827|896828|900261|900262|900263|900264|900265|900266|900267|919047|919048|919049|919050", "text": "Cone-rod dystrophy 7" }, { - "baseId": "19208|19209|215757", + "upstreamId": "19208|19209|215757", "text": "Glycine N-methyltransferase deficiency" }, { - "baseId": "19210|19211|19212|19213|19214|19215|19216|19217|191057|193617|193619|194958|194959|194960|195363|215101|250558|250559|250560|250562|250564|250565|250566|250568|266001|266016|266451|266925|267317|272109|272358|275006|284640|284645|284647|284648|285330|285335|285336|285337|285338|287489|287502|287503|287506|287507|287510|287511|287512|287743|287747|287764|287766|287770|287774|287776|360834|414867|450381|450530|450609|450619|450693|486833|488124|488851|489418|492831|513024|517693|517697|517700|517794|517795|517796|517822|553541|553542|557878|557880|557923|557925|557927|560883|560884|560887|589673|590239|614241|620059|620060|629437|629438|629439|629440|629441|629442|629443|629444|629445|629446|629447|629448|629449|629450|629451|650746|650796|708020|708021|708022|733153|733154|733155|743868|747282|747283|747285|762895|762898|762901|762902|762903|762904|762905|762906|762907|762909|762910|762912|774699|781161|781162|781166|781167|792728|815895|825716|825717|825718|825719|825720|825721|825722|825723|825724|825725|825726|825727|850880|851149|858547|883724|883725|883726|883727|883728|883729|883730|883731|883732|883733|887273|918735|922567|922568|922569|931134|931135|931136|931137|931138|931139|931140|931141|942604|942605|942606|952924|952925|952926|952927|952928|952929|952930|962857|977676|977677|977678|977679|977680|977681|977682|977683|977684|980306", + "upstreamId": "19210|19211|19212|19213|19214|19215|19216|19217|191057|193617|193619|194958|194959|194960|195363|215101|250558|250559|250560|250562|250564|250565|250566|250568|266001|266016|266451|266925|267317|272109|272358|275006|284640|284645|284647|284648|285330|285335|285336|285337|285338|287489|287502|287503|287506|287507|287510|287511|287512|287743|287747|287764|287766|287770|287774|287776|360834|414867|450381|450530|450609|450619|450693|486833|488124|488851|489418|492831|513024|517693|517697|517700|517794|517795|517796|517822|553541|553542|557878|557880|557923|557925|557927|560883|560884|560887|589673|590239|614241|620059|620060|629437|629438|629439|629440|629441|629442|629443|629444|629445|629446|629447|629448|629449|629450|629451|650746|650796|708020|708021|708022|733153|733154|733155|743868|747282|747283|747285|762895|762898|762901|762902|762903|762904|762905|762906|762907|762909|762910|762912|774699|781161|781162|781166|781167|792728|815895|825716|825717|825718|825719|825720|825721|825722|825723|825724|825725|825726|825727|850880|851149|858547|883724|883725|883726|883727|883728|883729|883730|883731|883732|883733|887273|918735|922567|922568|922569|931134|931135|931136|931137|931138|931139|931140|931141|942604|942605|942606|952924|952925|952926|952927|952928|952929|952930|962857|977676|977677|977678|977679|977680|977681|977682|977683|977684|980306", "text": "Schimke immuno-osseous dysplasia" }, { - "baseId": "19218|19218|19219|19220|19220|19221|19223|19224|19224|102136|131917|131918|131919|131919|131920|131921|131922|131923|131924|131925|131926|131926|131927|131927|205734|205735|205735|227260|227261|227261|251190|267003|290906|290910|290911|290911|290916|290916|290917|290917|291839|291839|291840|291840|295050|295056|295056|295083|353892|361357|361357|440822|443470|452738|452739|513538|513538|513538|519366|519372|519561|559016|559018|563013|563020|576706|576707|576708|608780|612264|612656|620765|631490|631491|631492|631493|631494|679823|698152|698153|698154|708908|720509|748330|748330|790399|795443|795443|804999|804999|828232|828233|828234|828235|828236|828237|828238|828239|828240|828241|828242|828243|828244|828245|889237|889237|889238|889239|889240|889241|903526|923236|931982|931983|931984|943590|943591|943592|943593|943594|953509|953510|970772", + "upstreamId": "19218|19218|19219|19220|19220|19221|19223|19224|19224|102136|131917|131918|131919|131919|131920|131921|131922|131923|131924|131925|131926|131926|131927|131927|205734|205735|205735|227260|227261|227261|251190|267003|290906|290910|290911|290911|290916|290916|290917|290917|291839|291839|291840|291840|295050|295056|295056|295083|353892|361357|361357|440822|443470|452738|452739|513538|513538|513538|519366|519372|519561|559016|559018|563013|563020|576706|576707|576708|608780|612264|612656|620765|631490|631491|631492|631493|631494|679823|698152|698153|698154|708908|720509|748330|748330|790399|795443|795443|804999|804999|828232|828233|828234|828235|828236|828237|828238|828239|828240|828241|828242|828243|828244|828245|889237|889237|889238|889239|889240|889241|903526|923236|931982|931983|931984|943590|943591|943592|943593|943594|953509|953510|970772", "text": "Aicardi Goutieres syndrome 1" }, { - "baseId": "19218|20505|20506|23948|27427|31890|31891|31960", + "upstreamId": "19218|20505|20506|23948|27427|31890|31891|31960", "text": "Systemic lupus erythematosus, susceptibility to" }, { - "baseId": "19218|19218|19220|19224|19226|102135|102136|102136|131919|131926|131927|205735|227261|251190|251190|290894|290897|290906|290910|290911|290911|290916|290916|290917|290917|291832|291833|291839|291839|291840|291840|291841|295022|295050|295056|295056|295083|295410|295418|295421|295439|361357|361357|440822|443470|443470|452738|452739|513538|513538|519366|519372|519561|559016|559018|563013|563020|576706|576707|576708|612656|620765|631490|631491|631492|631493|631494|698152|698153|698154|708908|720509|748330|748330|795443|795443|804999|828232|828233|828234|828235|828236|828237|828238|828239|828240|828241|828242|828243|828244|828245|889237|889237|889238|889239|889240|889241|923236|931982|931983|931984|943590|943591|943592|943593|943594|953509|953510", + "upstreamId": "19218|19218|19220|19224|19226|102135|102136|102136|131919|131926|131927|205735|227261|251190|251190|290894|290897|290906|290910|290911|290911|290916|290916|290917|290917|291832|291833|291839|291839|291840|291840|291841|295022|295050|295056|295056|295083|295410|295418|295421|295439|361357|361357|440822|443470|443470|452738|452739|513538|513538|519366|519372|519561|559016|559018|563013|563020|576706|576707|576708|612656|620765|631490|631491|631492|631493|631494|698152|698153|698154|708908|720509|748330|748330|795443|795443|804999|828232|828233|828234|828235|828236|828237|828238|828239|828240|828241|828242|828243|828244|828245|889237|889237|889238|889239|889240|889241|923236|931982|931983|931984|943590|943591|943592|943593|943594|953509|953510", "text": "Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations" }, { - "baseId": "19218|19220|19222|19224|19224|102136|131919|131926|205735|227261|251190|290911|290916|290917|291839|291840|295056|361357|361357|443470|452738|452739|513538|513538|519366|519561|559016|559018|576706|576707|576708|612656|631490|631491|631492|631493|631494|698152|698153|698154|708908|720509|748330|795443|804999|828232|828233|828234|828235|828236|828237|828238|828239|828240|828241|828242|828243|828244|828245|889237|923236|931982|931983|931984|943590|943591|943592|943593|943594|953509|953510", + "upstreamId": "19218|19220|19222|19224|19224|102136|131919|131926|205735|227261|251190|290911|290916|290917|291839|291840|295056|361357|361357|443470|452738|452739|513538|513538|519366|519561|559016|559018|576706|576707|576708|612656|631490|631491|631492|631493|631494|698152|698153|698154|708908|720509|748330|795443|804999|828232|828233|828234|828235|828236|828237|828238|828239|828240|828241|828242|828243|828244|828245|889237|923236|931982|931983|931984|943590|943591|943592|943593|943594|953509|953510", "text": "Chilblain lupus 1" }, { - "baseId": "19223|19224", + "upstreamId": "19223|19224", "text": "Aicardi Goutieres syndrome 1, autosomal dominant" }, { - "baseId": "19227|247504|249815|266292|447817|515626|515629|556821|823611", + "upstreamId": "19227|247504|249815|266292|447817|515626|515629|556821|823611", "text": "Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive" }, { - "baseId": "19227|20887|20888|20888|20889|20890|20890|20891|20892|20893|20894|20895|20898|20899|76662|250081|250082|250083|250084|259688|268021|280019|281531|281537|283532|283546|442904|448537|448540|448635|448647|448659|448661|448663|448751|448754|513511|516303|516309|516315|516391|516392|516392|557486|557539|557541|558697|558699|622270|622271|628405|628406|628407|628408|628409|650695|650781|685832|690701|690702|690705|780808|816440|824670|824671|824672|824673|824674|824675|824676|824677|863970|863978|863987|922224|930767|930768|939839|942195|952608", + "upstreamId": "19227|20887|20888|20888|20889|20890|20890|20891|20892|20893|20894|20895|20898|20899|76662|250081|250082|250083|250084|259688|268021|280019|281531|281537|283532|283546|442904|448537|448540|448635|448647|448659|448661|448663|448751|448754|513511|516303|516309|516315|516391|516392|516392|557486|557539|557541|558697|558699|622270|622271|628405|628406|628407|628408|628409|650695|650781|685832|690701|690702|690705|780808|816440|824670|824671|824672|824673|824674|824675|824676|824677|863970|863978|863987|922224|930767|930768|939839|942195|952608", "text": "Autosomal recessive hypohidrotic ectodermal dysplasia syndrome" }, { - "baseId": "19228|249815|266292|447817|515626|515629|556821|823611", + "upstreamId": "19228|249815|266292|447817|515626|515629|556821|823611", "text": "Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant" }, { - "baseId": "19228|20888|20888|20890|20891|20892|20892|250081|250082|250083|250084|259688|263002|268021|281537|283532|283546|404752|442904|448537|448540|448635|448647|448659|448661|448663|448751|448754|516303|516309|516315|516391|516392|557486|557539|557541|558697|558699|620024|620732|628405|628406|628407|628408|628409|650695|650781|685832|690701|690702|690705|780808|824670|824671|824672|824673|824674|824675|824676|824677|922224|930767|930768|939839|942195|952608|961039", + "upstreamId": "19228|20888|20888|20890|20891|20892|20892|250081|250082|250083|250084|259688|263002|268021|281537|283532|283546|404752|442904|448537|448540|448635|448647|448659|448661|448663|448751|448754|516303|516309|516315|516391|516392|557486|557539|557541|558697|558699|620024|620732|628405|628406|628407|628408|628409|650695|650781|685832|690701|690702|690705|780808|824670|824671|824672|824673|824674|824675|824676|824677|922224|930767|930768|939839|942195|952608|961039", "text": "Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant" }, { - "baseId": "19229|19230|19231|19232|19232|19234|19237|19237|19238|19239|19241|46970|48563|59596|165506|212638|212639|213815|221768|240400|240401|240402|244523|244524|244525|244526|244527|244528|253176|253176|370335|371968|396265|396279|396551|396683|396685|396688|396930|415146|444305|457966|457969|457976|457979|457987|458529|458531|458539|458540|458541|458542|458610|458625|459011|459012|459018|459025|459027|459029|459032|459037|459045|459046|459046|502368|523701|523703|523708|523709|524298|524304|562502|563070|563073|565214|565215|565224|565225|565227|568100|568105|590031|609702|625159|625186|637390|637391|637392|637393|637394|637395|637396|637397|637398|637399|637400|637401|651763|651996|683019|684027|687318|687319|790814|790815|819986|835038|835039|835040|835041|835042|835043|835044|835045|835046|835047|835048|835049|835050|851706|851708|905246|925261|934419|940113|946177|946178|946179|946180|946181|946182", + "upstreamId": "19229|19230|19231|19232|19232|19234|19237|19237|19238|19239|19241|46970|48563|59596|165506|212638|212639|213815|221768|240400|240401|240402|244523|244524|244525|244526|244527|244528|253176|253176|370335|371968|396265|396279|396551|396683|396685|396688|396930|415146|444305|457966|457969|457976|457979|457987|458529|458531|458539|458540|458541|458542|458610|458625|459011|459012|459018|459025|459027|459029|459032|459037|459045|459046|459046|502368|523701|523703|523708|523709|524298|524304|562502|563070|563073|565214|565215|565224|565225|565227|568100|568105|590031|609702|625159|625186|637390|637391|637392|637393|637394|637395|637396|637397|637398|637399|637400|637401|651763|651996|683019|684027|687318|687319|790814|790815|819986|835038|835039|835040|835041|835042|835043|835044|835045|835046|835047|835048|835049|835050|851706|851708|905246|925261|934419|940113|946177|946178|946179|946180|946181|946182", "text": "Charcot-Marie-Tooth disease, type 4A" }, { - "baseId": "19230|19232|19237|19237|19238|19239|19240|19241|19242|19243|59595|59596|59597|213815|214841|253176|459046|550866|788830|804741|804742|962982|970887", + "upstreamId": "19230|19232|19237|19237|19238|19239|19240|19241|19242|19243|59595|59596|59597|213815|214841|253176|459046|550866|788830|804741|804742|962982|970887", "text": "Charcot-Marie-Tooth disease type 2K" }, { - "baseId": "19230|19232|19232|212639|253176|305846|305851|305852|305855|305861|305865|305866|305869|305874|305878|309933|309934|309941|309942|309943|309944|309950|309951|309952|315143|315149|315151|315152|315161|315165|315172|315173|315177|315178|315188|315208|315210|315265|315268|315275|315280|315285|315291|315292|315294|315296|315298|371968|458542|459037|459046|835046|835050|900018|900019|900020|900021|900022|900023|900024|900025|900026|900027|900028|900029|900030|900031|900032|900033|900034|900035|900036|900037|900038|900039|900040|900041|900042|900043|900044|900045|900046|900047|900048|900049|900050|900051", + "upstreamId": "19230|19232|19232|212639|253176|305846|305851|305852|305855|305861|305865|305866|305869|305874|305878|309933|309934|309941|309942|309943|309944|309950|309951|309952|315143|315149|315151|315152|315161|315165|315172|315173|315177|315178|315188|315208|315210|315265|315268|315275|315280|315285|315291|315292|315294|315296|315298|371968|458542|459037|459046|835046|835050|900018|900019|900020|900021|900022|900023|900024|900025|900026|900027|900028|900029|900030|900031|900032|900033|900034|900035|900036|900037|900038|900039|900040|900041|900042|900043|900044|900045|900046|900047|900048|900049|900050|900051", "text": "Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, autosomal recessive" }, { - "baseId": "19232|19233", + "upstreamId": "19232|19233", "text": "Neuropathy, axonal, with vocal cord paresis, autosomal recessive" }, { - "baseId": "19232|19234|19236|19237|19239|48563|212639|213815|244526|253176|305846|305851|305852|305855|305861|305865|305866|305869|305874|305878|309933|309934|309941|309942|309943|309944|309950|309951|309952|315143|315149|315151|315152|315161|315165|315172|315173|315177|315178|315188|315208|315210|315265|315268|315275|315280|315285|315291|315292|315294|315296|315298|371968|458542|459037|459046|540453|625167|835046|835050|900018|900019|900020|900021|900022|900023|900024|900025|900026|900027|900028|900029|900030|900031|900032|900033|900034|900035|900036|900037|900038|900039|900040|900041|900042|900043|900044|900045|900046|900047|900048|900049|900050|900051", + "upstreamId": "19232|19234|19236|19237|19239|48563|212639|213815|244526|253176|305846|305851|305852|305855|305861|305865|305866|305869|305874|305878|309933|309934|309941|309942|309943|309944|309950|309951|309952|315143|315149|315151|315152|315161|315165|315172|315173|315177|315178|315188|315208|315210|315265|315268|315275|315280|315285|315291|315292|315294|315296|315298|371968|458542|459037|459046|540453|625167|835046|835050|900018|900019|900020|900021|900022|900023|900024|900025|900026|900027|900028|900029|900030|900031|900032|900033|900034|900035|900036|900037|900038|900039|900040|900041|900042|900043|900044|900045|900046|900047|900048|900049|900050|900051", "text": "Charcot-Marie-Tooth disease, recessive intermediate A" }, { - "baseId": "19239|29215|244165|360906|361106|686427", + "upstreamId": "19239|29215|244165|360906|361106|686427", "text": "Sensory neuropathy" }, { - "baseId": "19239", + "upstreamId": "19239", "text": "Elevated alkaline phosphatase" }, { - "baseId": "19239|222818|430295|677208|677246|677256|677259|677267|677268|682751|962129|962130|971043", + "upstreamId": "19239|222818|430295|677208|677246|677256|677259|677267|677268|682751|962129|962130|971043", "text": "Polyneuropathy" }, { - "baseId": "19239|213789|283972|302805|311091|311092|311094|360832|514154|638747|677221|804737|804740|804745", + "upstreamId": "19239|213789|283972|302805|311091|311092|311094|360832|514154|638747|677221|804737|804740|804745", "text": "Peripheral axonal neuropathy" }, { - "baseId": "19239", + "upstreamId": "19239", "text": "GDAP1-Related Disorders" }, { - "baseId": "19244|19245|19246|19247|19248|19249|19250|19251|19256|39552|39553|137045|215772|228936|236857|264092|264095|481047|481048|481049|481050|481051|481052|481053|481054|495125|496224|496265|496686|535279|535281|535282|537710|537711|537712|537713|537714|537715|537716|537717|537718|537719|537720|537721|537722|537723|537724|537725|537727|537728|537729|537730|537731|537732|537733|788750|789351|790202|815856|964194|983612|983616|983617|983618|983619|983620|983621|983622", + "upstreamId": "19244|19245|19246|19247|19248|19249|19250|19251|19256|39552|39553|137045|215772|228936|236857|264092|264095|481047|481048|481049|481050|481051|481052|481053|481054|495125|496224|496265|496686|535279|535281|535282|537710|537711|537712|537713|537714|537715|537716|537717|537718|537719|537720|537721|537722|537723|537724|537725|537727|537728|537729|537730|537731|537732|537733|788750|789351|790202|815856|964194|983612|983616|983617|983618|983619|983620|983621|983622", "text": "Waardenburg syndrome type 1" }, { - "baseId": "19251|19253|19254|19255|496224|496686|537726", + "upstreamId": "19251|19253|19254|19255|496224|496686|537726", "text": "Klein-Waardenberg's syndrome" }, { - "baseId": "19252|192593|215772|228928|228929|228930|228931|228936|228937|228938|284872|284880|284881|284886|285534|285535|287842|287843|287860|287879|287881|287886|288118|288125|288126|288127|288130|496224|496263|496686|496686|747372|747374|883882|883883|883884|883885|883886|883887|883888|883889|883890|883891|883892", + "upstreamId": "19252|192593|215772|228928|228929|228930|228931|228936|228937|228938|284872|284880|284881|284886|285534|285535|287842|287843|287860|287879|287881|287886|288118|288125|288126|288127|288130|496224|496263|496686|496686|747372|747374|883882|883883|883884|883885|883886|883887|883888|883889|883890|883891|883892", "text": "Craniofacial-deafness-hand syndrome" }, { - "baseId": "19257|19258|19259|19274", + "upstreamId": "19257|19258|19259|19274", "text": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5" }, { - "baseId": "19259|19260|19260|19260|19263|19264|19265|19266|19274|102006|134502|243357|266484|273802|273959|403314|446153|468910|481141|533194|533194|919879|919880", + "upstreamId": "19259|19260|19260|19260|19263|19264|19265|19266|19274|102006|134502|243357|266484|273802|273959|403314|446153|468910|481141|533194|533194|919879|919880", "text": "Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5" }, { - "baseId": "19259|19260|19260|19260|19261|19262|19263|19265|19267|19268|19269|19270|19271|19272|19274|101999|102001|102002|102003|102004|102006|102008|102009|134502|134502|134503|141083|177298|194503|194507|208610|243355|243356|243357|243357|257157|257158|266484|266484|267061|267103|267275|267542|268719|269533|269670|271057|271954|273488|273710|273802|273802|273959|273959|274840|376626|403314|403314|403324|446151|446153|468907|468910|468910|480541|481141|489693|493619|513477|533164|533170|533194|533194|548858|548862|548869|548875|548876|548878|548879|548881|548884|548896|548906|548908|548924|548932|548935|548936|548940|548945|548952|549195|549196|549197|549199|549203|549204|549206|549368|549369|549370|549371|549372|549373|549374|549375|549376|549377|549378|570859|570868|577811|648189|648194|681847|684836|689107|742004|788929|847769|847771|979989|979990|979991", + "upstreamId": "19259|19260|19260|19260|19261|19262|19263|19265|19267|19268|19269|19270|19271|19272|19274|101999|102001|102002|102003|102004|102006|102008|102009|134502|134502|134503|141083|177298|194503|194507|208610|243355|243356|243357|243357|257157|257158|266484|266484|267061|267103|267275|267542|268719|269533|269670|271057|271954|273488|273710|273802|273802|273959|273959|274840|376626|403314|403314|403324|446151|446153|468907|468910|468910|480541|481141|489693|493619|513477|533164|533170|533194|533194|548858|548862|548869|548875|548876|548878|548879|548881|548884|548896|548906|548908|548924|548932|548935|548936|548940|548945|548952|549195|549196|549197|549199|549203|549204|549206|549368|549369|549370|549371|549372|549373|549374|549375|549376|549377|549378|570859|570868|577811|648189|648194|681847|684836|689107|742004|788929|847769|847771|979989|979990|979991", "text": "Limb-girdle muscular dystrophy-dystroglycanopathy, type C5" }, { - "baseId": "19259|19260|19260|19272|19273|102006|125788|134502|243357|263007|266484|273802|273959|403314|468910|481141|533194|906272", + "upstreamId": "19259|19260|19260|19272|19273|102006|125788|134502|243357|263007|266484|273802|273959|403314|468910|481141|533194|906272", "text": "Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5" }, { - "baseId": "19260|19262|40244|75124|75128|428699", + "upstreamId": "19260|19262|40244|75124|75128|428699", "text": "Muscular dystrophy-dystroglycanopathy" }, { - "baseId": "19260|23317|23318|56173|192866|198685|360828|453359|489500|553132|614646|965282", + "upstreamId": "19260|23317|23318|56173|192866|198685|360828|453359|489500|553132|614646|965282", "text": "Limb-girdle muscular dystrophy" }, { - "baseId": "19272", + "upstreamId": "19272", "text": "FKRP-Related Disorder" }, { - "baseId": "19275|19276|19277|361835|508753", + "upstreamId": "19275|19276|19277|361835|508753", "text": "Amelogenesis imperfecta - hypoplastic autosomal dominant - local" }, { - "baseId": "19277|481537", + "upstreamId": "19277|481537", "text": "Amelogenesis imperfecta, type IC" }, { - "baseId": "19278|19278|19280|19281|34561|34562|142275|211896|211898|265218|265218|333825|333829|333835|333836|333838|333839|333841|333848|333865|333866|333868|333871|333872|333874|333876|333881|333883|333884|333893|333895|333899|333900|333902|333904|333909|333911|333916|333917|333919|333923|343806|343809|343811|343813|343815|343819|343822|343824|343826|343831|343837|343838|343840|343841|343843|343845|343846|343851|343852|343854|343856|343860|343864|343865|343868|343869|343874|343876|343877|349091|349092|349095|349097|349100|349102|349103|349105|349109|349110|349113|349114|349117|349121|349123|349125|349127|349135|349136|349139|349142|349143|349146|349149|349150|349153|349154|349155|349159|349160|349162|349163|349165|349170|349171|349173|349175|349177|349180|349181|349183|349185|350019|350020|350023|350024|350028|350029|350031|350032|350033|350036|350037|350039|350042|350045|350046|350048|350050|350052|350054|350057|350058|350061|350062|350064|350067|350071|350072|350077|350078|350080|350081|350083|350088|350090|350093|350095|350096|350099|353496|353497|358620|377761|446146|470325|533159|540607|540608|540609|540610|540611|540612|540613|548812|548813|548814|548816|548825|548827|548828|548833|548840|548843|548844|548848|548851|548853|548859|548863|548870|548872|549179|549183|549192|549364|549365|549366|549367|576185|611904|648177|648178|741988|772751|772752|772752|772753|772755|786231|786233|786234|798756|821264|821265|882155|882156|882157|882158|882159|882160|882161|882162|882163|882164|882165|882166|882167|882168|882169|882170|882171|882172|882173|882174|882175|882176|882177|882178|882179|882180|882181|882182|882183|882184|882185|882186|882187|882188|882189|882190|882191|882192|882193|882194|882195|882196|882197|882198|882199|882200|882201|882202|882203|882204|882205|882206|882207|882208|882209|882210|882211|882212|882213|882214|882215|882216|882217|882218|882219|882220|882221|882222|882223|882224|906325|941234|950822|958658|979987|979988", + "upstreamId": "19278|19278|19280|19281|34561|34562|142275|211896|211898|265218|265218|333825|333829|333835|333836|333838|333839|333841|333848|333865|333866|333868|333871|333872|333874|333876|333881|333883|333884|333893|333895|333899|333900|333902|333904|333909|333911|333916|333917|333919|333923|343806|343809|343811|343813|343815|343819|343822|343824|343826|343831|343837|343838|343840|343841|343843|343845|343846|343851|343852|343854|343856|343860|343864|343865|343868|343869|343874|343876|343877|349091|349092|349095|349097|349100|349102|349103|349105|349109|349110|349113|349114|349117|349121|349123|349125|349127|349135|349136|349139|349142|349143|349146|349149|349150|349153|349154|349155|349159|349160|349162|349163|349165|349170|349171|349173|349175|349177|349180|349181|349183|349185|350019|350020|350023|350024|350028|350029|350031|350032|350033|350036|350037|350039|350042|350045|350046|350048|350050|350052|350054|350057|350058|350061|350062|350064|350067|350071|350072|350077|350078|350080|350081|350083|350088|350090|350093|350095|350096|350099|353496|353497|358620|377761|446146|470325|533159|540607|540608|540609|540610|540611|540612|540613|548812|548813|548814|548816|548825|548827|548828|548833|548840|548843|548844|548848|548851|548853|548859|548863|548870|548872|549179|549183|549192|549364|549365|549366|549367|576185|611904|648177|648178|741988|772751|772752|772752|772753|772755|786231|786233|786234|798756|821264|821265|882155|882156|882157|882158|882159|882160|882161|882162|882163|882164|882165|882166|882167|882168|882169|882170|882171|882172|882173|882174|882175|882176|882177|882178|882179|882180|882181|882182|882183|882184|882185|882186|882187|882188|882189|882190|882191|882192|882193|882194|882195|882196|882197|882198|882199|882200|882201|882202|882203|882204|882205|882206|882207|882208|882209|882210|882211|882212|882213|882214|882215|882216|882217|882218|882219|882220|882221|882222|882223|882224|906325|941234|950822|958658|979987|979988", "text": "3-Methylglutaconic aciduria type 3" }, { - "baseId": "19278|19279|19280|19280|34561|142275|211898|227093|265218|265218|333825|333829|333835|333836|333838|333839|333841|333848|333865|333866|333871|333872|333876|333883|333884|333893|333895|333899|333900|333902|333909|333911|333916|333917|333919|333923|343806|343809|343811|343815|343819|343822|343824|343826|343831|343838|343841|343843|343845|343846|343851|343852|343854|343856|343860|343864|343868|343869|343877|349092|349095|349097|349100|349102|349103|349109|349110|349113|349114|349117|349136|349139|349142|349146|349149|349150|349153|349154|349155|349159|349160|349162|349163|349170|349171|349173|349175|349177|349180|349181|349183|349185|350019|350020|350023|350024|350028|350029|350031|350032|350033|350036|350037|350039|350045|350046|350048|350050|350052|350054|350057|350058|350061|350062|350064|350067|350071|350072|350078|350080|350081|350083|350088|350090|350095|350096|350099|353497|377761|446146|470325|533159|576185|648177|648178|741988|772751|772752|772753|772755|786231|786233|786234|821264|821265|882155|882156|882157|882158|882159|882160|882161|882162|882163|882164|882165|882166|882167|882168|882169|882170|882171|882172|882173|882174|882175|882176|882177|882178|882179|882180|882181|882182|882183|882184|882185|882186|882187|882188|882189|882190|882191|882192|882193|882194|882195|882196|882197|882198|882199|882200|882201|882202|882203|882204|882205|882206|882207|882208|882209|882210|882211|882212|882213|882214|882215|882216|882217|882218|882219|882220|882221|882222|882223|882224|941234|950822|958658", + "upstreamId": "19278|19279|19280|19280|34561|142275|211898|227093|265218|265218|333825|333829|333835|333836|333838|333839|333841|333848|333865|333866|333871|333872|333876|333883|333884|333893|333895|333899|333900|333902|333909|333911|333916|333917|333919|333923|343806|343809|343811|343815|343819|343822|343824|343826|343831|343838|343841|343843|343845|343846|343851|343852|343854|343856|343860|343864|343868|343869|343877|349092|349095|349097|349100|349102|349103|349109|349110|349113|349114|349117|349136|349139|349142|349146|349149|349150|349153|349154|349155|349159|349160|349162|349163|349170|349171|349173|349175|349177|349180|349181|349183|349185|350019|350020|350023|350024|350028|350029|350031|350032|350033|350036|350037|350039|350045|350046|350048|350050|350052|350054|350057|350058|350061|350062|350064|350067|350071|350072|350078|350080|350081|350083|350088|350090|350095|350096|350099|353497|377761|446146|470325|533159|576185|648177|648178|741988|772751|772752|772753|772755|786231|786233|786234|821264|821265|882155|882156|882157|882158|882159|882160|882161|882162|882163|882164|882165|882166|882167|882168|882169|882170|882171|882172|882173|882174|882175|882176|882177|882178|882179|882180|882181|882182|882183|882184|882185|882186|882187|882188|882189|882190|882191|882192|882193|882194|882195|882196|882197|882198|882199|882200|882201|882202|882203|882204|882205|882206|882207|882208|882209|882210|882211|882212|882213|882214|882215|882216|882217|882218|882219|882220|882221|882222|882223|882224|941234|950822|958658", "text": "Optic atrophy 3" }, { - "baseId": "19282|19283|179619", + "upstreamId": "19282|19283|179619", "text": "Cardiomyopathy, hypertrophic, midventricular, digenic" }, { - "baseId": 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+ "upstreamId": 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"text": "Familial hypertrophic cardiomyopathy 1" }, { - "baseId": "19284|19285|20242|20739|20740|20741", + "upstreamId": "19284|19285|20242|20739|20740|20741", "text": "Esophageal squamous cell carcinoma, somatic" }, { - "baseId": 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+ "upstreamId": 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"text": "Congenital microvillous atrophy" }, { - "baseId": "19292|20199|23407|27292|27427|29711|29712", + "upstreamId": "19292|20199|23407|27292|27427|29711|29712", "text": "Asthma, susceptibility to" }, { - "baseId": 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+ "upstreamId": 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"text": "Cholestanol storage disease" }, { - "baseId": "19307|29110|188960|624151", + "upstreamId": "19307|29110|188960|624151", "text": "Griscelli syndrome type 3" }, { - "baseId": "19308|101915|135774|135777|135780|194492|195408|195409|265350|270143|329814|329815|329819|345823|345826|345833|345835|345837|347209|347211|347217|375708|430007|506407|588226|679801|679831|715702|878411|878412|878413|878414|878415|878416|878417|878418", + "upstreamId": "19308|101915|135774|135777|135780|194492|195408|195409|265350|270143|329814|329815|329819|345823|345826|345833|345835|345837|347209|347211|347217|375708|430007|506407|588226|679801|679831|715702|878411|878412|878413|878414|878415|878416|878417|878418", "text": "Amish lethal microcephaly" }, { - "baseId": "19309|226953|614420|614421|816334", + "upstreamId": "19309|226953|614420|614421|816334", "text": "Ige responsiveness, atopic" }, { - "baseId": "19310|19311|19313|19314|39543|101215|136235|150178|150179|150221|280475|280494|280886|280892|280898|280899|280900|280904|280905|280910|282237|282239|282441|282442|282443|282444|282451|732441|732444|864347|864348|864349|864350|864351|864352|864353|864354|864355|864356|864357|864358|864359|864360|864361|864362|864363|864364", + "upstreamId": "19310|19311|19313|19314|39543|101215|136235|150178|150179|150221|280475|280494|280886|280892|280898|280899|280900|280904|280905|280910|282237|282239|282441|282442|282443|282444|282451|732441|732444|864347|864348|864349|864350|864351|864352|864353|864354|864355|864356|864357|864358|864359|864360|864361|864362|864363|864364", "text": "Mandibuloacral dysplasia with type B lipodystrophy" }, { - "baseId": "19310|19315|29529|29539|39541|39542|45141|45142|49843|49844|57201|57207|57208|57212|57226|57227|57235|57242|57250|57252|77677|77776|101215|136235|150178|150179|150221|172488|172489|196270|196461|196463|224183|226437|238151|244232|276591|276601|276609|276610|276614|276876|277430|277432|277433|277434|277441|277445|277446|277447|277453|277456|277461|277537|280475|280484|280486|280494|280881|280882|280886|280892|280898|280899|280900|280904|280905|280910|282234|282235|282236|282237|282239|282440|282441|282442|282443|282444|282451|353062|509122|556620|576413|626918|685575|732441|732444|789965|862419|862420|862421|862422|862423|864347|864348|864349|864350|864351|864352|864353|864354|864355|864356|864357|864358|864359|864360|864361|864362|864363|864364|864995", + "upstreamId": "19310|19315|29529|29539|39541|39542|45141|45142|49843|49844|57201|57207|57208|57212|57226|57227|57235|57242|57250|57252|77677|77776|101215|136235|150178|150179|150221|172488|172489|196270|196461|196463|224183|226437|238151|244232|276591|276601|276609|276610|276614|276876|277430|277432|277433|277434|277441|277445|277446|277447|277453|277456|277461|277537|280475|280484|280486|280494|280881|280882|280886|280892|280898|280899|280900|280904|280905|280910|282234|282235|282236|282237|282239|282440|282441|282442|282443|282444|282451|353062|509122|556620|576413|626918|685575|732441|732444|789965|862419|862420|862421|862422|862423|864347|864348|864349|864350|864351|864352|864353|864354|864355|864356|864357|864358|864359|864360|864361|864362|864363|864364|864995", "text": "Lethal tight skin contracture syndrome" }, { - "baseId": "19310", + "upstreamId": "19310", "text": "ZMPSTE24-Related Disorders" }, { - "baseId": "19316", + "upstreamId": "19316", "text": "Kawasaki disease, susceptibility to" }, { - "baseId": "19318|19319|19320|19321|38855|38856|237210|255154|322262|322264|331571|331574|331575|338504|338505|338512|340237|340242|340262|340269|429645|464956|464973|643100|643101|688399|820686|842231|873254|873255|873256|873257|873258|876492", + "upstreamId": "19318|19319|19320|19321|38855|38856|237210|255154|322262|322264|331571|331574|331575|338504|338505|338512|340237|340242|340262|340269|429645|464956|464973|643100|643101|688399|820686|842231|873254|873255|873256|873257|873258|876492", "text": "Dyskeratosis congenita autosomal recessive 1" }, { - "baseId": "19319|19320|19321|961946", + "upstreamId": "19319|19320|19321|961946", "text": "Dyskeratosis congenita, autosomal recessive 2" }, { - "baseId": "19322|19323|19325|19326|213451|222806|333152|403292|880308|880309|880310|905732", + "upstreamId": "19322|19323|19325|19326|213451|222806|333152|403292|880308|880309|880310|905732", "text": "Hemochromatosis type 2B" }, { - "baseId": "19325", + "upstreamId": "19325", "text": "Hemochromatosis, type 2a, modifier of" }, { - "baseId": "19327|19327|19328|19329|19330|19331|19332|19332|19334|19334|19337|19340|19341|19345|19350|19353|19357|19358|19366|19367|19373|33922|33924|99352|99352|99353|99356|99356|99358|99360|99362|99363|99364|265824|404945|626896|679732|682848|801581|801582|801583|801584|801585|801586|801587", + "upstreamId": "19327|19327|19328|19329|19330|19331|19332|19332|19334|19334|19337|19340|19341|19345|19350|19353|19357|19358|19366|19367|19373|33922|33924|99352|99352|99353|99356|99356|99358|99360|99362|99363|99364|265824|404945|626896|679732|682848|801581|801582|801583|801584|801585|801586|801587", "text": "Acute neuronopathic Gaucher's disease" }, { - "baseId": "19327|19327|19329|19330|19331|19331|19332|19332|19333|19334|19334|19337|19340|19341|19350|19353|19353|19362|19366|19366|19367|19369|19373|33922|33924|99352|99353|99356|99358|99360|99362|99363|99364|265824|362045|404945|626896|682848|801581|801582|801583|801584|801585|801586|801587", + "upstreamId": "19327|19327|19329|19330|19331|19331|19332|19332|19333|19334|19334|19337|19340|19341|19350|19353|19353|19362|19366|19366|19367|19369|19373|33922|33924|99352|99353|99356|99358|99360|99362|99363|99364|265824|362045|404945|626896|682848|801581|801582|801583|801584|801585|801586|801587", "text": "Subacute neuronopathic Gaucher's disease" }, { - "baseId": "19327|19327|19329|19329|19330|19330|19331|19331|19332|19332|19333|19334|19334|19335|19337|19337|19339|19340|19341|19341|19344|19345|19346|19347|19348|19349|19350|19350|19352|19353|19353|19354|19355|19356|19359|19360|19363|19365|19366|19366|19367|19369|19371|19373|33922|33922|33924|99352|99352|99353|99355|99356|99356|99358|99360|99362|99363|99364|190774|237954|237955|237956|237958|237959|237960|265824|404945|439574|439575|495063|513234|612077|622301|626896|677160|682848|789853|801581|801582|801583|801584|801585|801586|801587|857349|906180|906182|906183|920599|920600|920601", + "upstreamId": "19327|19327|19329|19329|19330|19330|19331|19331|19332|19332|19333|19334|19334|19335|19337|19337|19339|19340|19341|19341|19344|19345|19346|19347|19348|19349|19350|19350|19352|19353|19353|19354|19355|19356|19359|19360|19363|19365|19366|19366|19367|19369|19371|19373|33922|33922|33924|99352|99352|99353|99355|99356|99356|99358|99360|99362|99363|99364|190774|237954|237955|237956|237958|237959|237960|265824|404945|439574|439575|495063|513234|612077|622301|626896|677160|682848|789853|801581|801582|801583|801584|801585|801586|801587|857349|906180|906182|906183|920599|920600|920601", "text": "Gaucher's disease, type 1" }, { - "baseId": "19327|19329", + "upstreamId": "19327|19329", "text": "Dementia, Lewy body, susceptibility to" }, { - "baseId": "19327|19329|19330|19331|19332|19333|19334|19335|19337|19338|19340|19341|19345|19348|19350|19353|19357|19360|19365|19366|19367|19368|19373|33922|33924|33925|38432|47036|76478|99351|99352|99353|99354|99355|99356|99358|99360|99362|99363|99364|190774|194862|194863|195917|227188|237954|249411|265209|314491|404945|486012|486837|486838|486840|486844|486866|486867|496141|513234|549499|621056|621057|621058|621059|621060|621061|621703|696140|816426|915011|915012|916793|920479|920480|963246|972537|975763|977443|977444|977445|977446|977447|977448|977449|978515|983940", + "upstreamId": "19327|19329|19330|19331|19332|19333|19334|19335|19337|19338|19340|19341|19345|19348|19350|19353|19357|19360|19365|19366|19367|19368|19373|33922|33924|33925|38432|47036|76478|99351|99352|99353|99354|99355|99356|99358|99360|99362|99363|99364|190774|194862|194863|195917|227188|237954|249411|265209|314491|404945|486012|486837|486838|486840|486844|486866|486867|496141|513234|549499|621056|621057|621058|621059|621060|621061|621703|696140|816426|915011|915012|916793|920479|920480|963246|972537|975763|977443|977444|977445|977446|977447|977448|977449|978515|983940", "text": "Gaucher disease" }, { - "baseId": "19327", + "upstreamId": "19327", "text": "Hypomimic face" }, { - "baseId": "19327|203232|260118|513946|613536|613536|613537|613537|800991|801159", + "upstreamId": "19327|203232|260118|513946|613536|613536|613537|613537|800991|801159", "text": "Movement disorder" }, { - "baseId": "19327|264319|360941", + "upstreamId": "19327|264319|360941", "text": "Thoracolumbar scoliosis" }, { - "baseId": "19327|38432|38432|133431|360846|360868|360942|361108|362597|362598|476220|486013|513955|514103", + "upstreamId": "19327|38432|38432|133431|360846|360868|360942|361108|362597|362598|476220|486013|513955|514103", "text": "Parkinsonism" }, { - "baseId": "19327|486013", + "upstreamId": "19327|486013", "text": "Resting tremor" }, { - "baseId": "19327|19329|19330|19331|19332|19332|19334|19337|19341|19350|19353|19366|19367|19373|33922|33924|99352|99353|99356|99358|99360|99363|99364|265824|404945|626896|682848|801581|801582|801583|801584|801585|801586|801587", + "upstreamId": "19327|19329|19330|19331|19332|19332|19334|19337|19341|19350|19353|19366|19367|19373|33922|33924|99352|99353|99356|99358|99360|99363|99364|265824|404945|626896|682848|801581|801582|801583|801584|801585|801586|801587", "text": "Gaucher disease type 3C" }, { - "baseId": "19327|19329|19330|19332|19342|19357|19361|19364|19365|19367|19368|19370|19372|19373|33924|99354|190774|682848|918564|918565|920127", + "upstreamId": "19327|19329|19330|19332|19342|19357|19361|19364|19365|19367|19368|19370|19372|19373|33924|99354|190774|682848|918564|918565|920127", "text": "Gaucher disease, perinatal lethal" }, { - "baseId": "19329", + "upstreamId": "19329", "text": "Susceptibility to Parkinson's Disease" }, { - "baseId": "19329", + "upstreamId": "19329", "text": "Akinesia" }, { - "baseId": "19329|38432|360942|514103", + "upstreamId": "19329|38432|360942|514103", "text": "Rigidity" }, { - "baseId": "19329|94418|223765|223766|223767|223768|223769|226703|226704|226705|226706|226707|226708|226709|226710", + "upstreamId": "19329|94418|223765|223766|223767|223768|223769|226703|226704|226705|226706|226707|226708|226709|226710", "text": "Parkinson disease" }, { - "baseId": "19380|19381|39540|287298|287301|287302|287303|287311|288014|288015|288016|288021|288035|288038|290667|290668|290700|290701|290709|290711|290714|290715|290718|290720|290725|290732|290936|290941|290944|290946|290947|290950|290951|290952|733580|747788|885474|885475|885476|885477|885478|885479|885480|885481|885482|885483|885484|887401", + "upstreamId": "19380|19381|39540|287298|287301|287302|287303|287311|288014|288015|288016|288021|288035|288038|290667|290668|290700|290701|290709|290711|290714|290715|290718|290720|290725|290732|290936|290941|290944|290946|290947|290950|290951|290952|733580|747788|885474|885475|885476|885477|885478|885479|885480|885481|885482|885483|885484|887401", "text": "Parkinson disease 13" }, { - "baseId": "19382|19383|19384|165840|175965|175967|176105|209355|237617|404821|442483|497248|497466|511015|550777|553314|609916|612159|614131|614134|615818|679904|802083|805825|961565", + "upstreamId": "19382|19383|19384|165840|175965|175967|176105|209355|237617|404821|442483|497248|497466|511015|550777|553314|609916|612159|614131|614134|615818|679904|802083|805825|961565", "text": "Deafness, autosomal recessive 16" }, { - "baseId": "19385|19385|19386|19387|19388|19389|19390|19391|19392|19393|34380|34381|34382|34383|34384|34385|34386|34386|39537|39539|71462|140131|140131|191260|195727|205019|213112|222372|222373|222374|241848|264598|320649|320667|320668|320669|320671|329462|329463|329479|329483|329486|329487|329489|329491|336024|336042|336046|336054|336055|336058|336059|337982|337983|337987|337996|373858|374245|399673|399833|441647|445234|463293|463302|463801|463803|463808|464156|464290|464292|464298|464300|495758|528195|528201|528207|528210|528213|528546|528559|528565|528567|528569|552176|552177|566492|568098|568101|568939|572612|612099|642484|642485|642486|642487|642488|642489|642490|642491|642492|642493|642494|642495|642496|684496|688303|791410|791411|798676|816001|820625|820626|820627|841541|841542|841543|841544|841545|841546|841547|841548|871913|871914|871915|871916|871917|871918|871919|872367|927093|927094|927095|936632|936633|936634|948579|948580|948581|948582|948583|957231|957232|960804|963167|970144", + "upstreamId": "19385|19385|19386|19387|19388|19389|19390|19391|19392|19393|34380|34381|34382|34383|34384|34385|34386|34386|39537|39539|71462|140131|140131|191260|195727|205019|213112|222372|222373|222374|241848|264598|320649|320667|320668|320669|320671|329462|329463|329479|329483|329486|329487|329489|329491|336024|336042|336046|336054|336055|336058|336059|337982|337983|337987|337996|373858|374245|399673|399833|441647|445234|463293|463302|463801|463803|463808|464156|464290|464292|464298|464300|495758|528195|528201|528207|528210|528213|528546|528559|528565|528567|528569|552176|552177|566492|568098|568101|568939|572612|612099|642484|642485|642486|642487|642488|642489|642490|642491|642492|642493|642494|642495|642496|684496|688303|791410|791411|798676|816001|820625|820626|820627|841541|841542|841543|841544|841545|841546|841547|841548|871913|871914|871915|871916|871917|871918|871919|872367|927093|927094|927095|936632|936633|936634|948579|948580|948581|948582|948583|957231|957232|960804|963167|970144", "text": "Hereditary spastic paraplegia 3A" }, { - "baseId": "19385|34386|39536|39537|140131|625307|626229|919529|919530|964416", + "upstreamId": "19385|34386|39536|39537|140131|625307|626229|919529|919530|964416", "text": "Hereditary sensory neuropathy type 1D" }, { - "baseId": "19394|19395|19396|165954|227498|238219|238220|238221|279495|279504|279505|279510|279531|279537|279541|279546|279550|279552|279556|279558|279568|279569|279570|279580|279582|279592|279593|279602|279603|279604|279609|279763|279764|279765|279770|279771|279791|279807|279811|279821|279834|279836|279837|279838|279839|279840|279842|279846|279847|279849|279850|279854|279856|279857|279867|281073|281078|281081|281082|281084|281090|281099|281102|281118|281122|281123|281125|281127|281141|281142|281175|281177|281178|281181|281182|281187|281189|281190|281191|281193|281194|281195|281196|281197|281201|281205|281207|281213|281216|281217|281221|281222|281223|281224|281226|281233|281234|281237|281241|281249|390977|390996|390999|391001|391100|391102|391112|391112|447548|447554|447697|447699|447711|515504|515623|557177|627433|627434|627435|650687|683313|683314|685637|689644|689645|823525|823526|823527|823528|823529|823530|823531|823532|850965|863875|863876|863877|863878|863879|863880|863881|863882|863883|863884|863885|863886|863887|863888|863889|863890|863891|863892|863893|863894|863895|863896|863897|863898|863899|863900|863901|863902|863903|863904|863905|863906|863907|863908|863909|863910|863911|863912|863913|921863|921864|921865|921866|921867|930346|930347|930348|941779|941780|941781", + "upstreamId": 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"text": "Erythrocytosis, familial, 3" }, { - "baseId": "19397|19398|19399|19400|19401|19402|19403|19404|19405|195381|438125|491867|513144|551588|551589|590356|613154|800157|818341|919893|980391", + "upstreamId": "19397|19398|19399|19400|19401|19402|19403|19404|19405|195381|438125|491867|513144|551588|551589|590356|613154|800157|818341|919893|980391", "text": "Retinitis pigmentosa 11" }, { - "baseId": 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"text": "Familial cold autoinflammatory syndrome 1" }, { - "baseId": 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"text": "Cryopyrin associated periodic syndrome" }, { - "baseId": "19410|103783|257201|257202|257203|257204|257206|257207|281855|281901|282014|282015|282018|344075|344095|349305|349310|349317|349328|350305|350308|350336|353519", + "upstreamId": "19410|103783|257201|257202|257203|257204|257206|257207|281855|281901|282014|282015|282018|344075|344095|349305|349310|349317|349328|350305|350308|350336|353519", "text": "Familial cold autoinflammatory syndrome" }, { - "baseId": 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"baseId": "19418|231490|486795|557011", + "upstreamId": "19418|231490|486795|557011", "text": "Keratitis fugax hereditaria" }, { - "baseId": "19419|19420|19421|19422|19423|19424|19425|19426|19427|55710|55711|55714|55715|55717|55718|172589|227215|228487|228489|228494|228496|275045|280879|280880|280883|280884|280888|281402|281410|282626|282632|282929|282932|282933|282935|496211|581790|620006|622681|654213|746571|864622|864623|864624|864625|864626|864627|864628|864629|864630|980303", + "upstreamId": "19419|19420|19421|19422|19423|19424|19425|19426|19427|55710|55711|55714|55715|55717|55718|172589|227215|228487|228489|228494|228496|275045|280879|280880|280883|280884|280888|281402|281410|282626|282632|282929|282932|282933|282935|496211|581790|620006|622681|654213|746571|864622|864623|864624|864625|864626|864627|864628|864629|864630|980303", "text": "Bartter disease type 4a" }, { - "baseId": 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multisystem" }, { - "baseId": "19431|19432|19433|19434|19435|19436|19437|19438|57309|57310|57311|57312|173760|186675|186676|229031|229032|289133|289138|289139|289140|289141|289916|289917|289931|289936|289938|293002|293007|293010|293341|293352|293371|293380|293381|293406|293415|293419|357287|357288|357289|493293|496337|542823|542827|542829|542832|542837|542840|543017|543022|543027|543029|543031|543033|543075|543076|543079|543082|543099|543103|543106|543111|543116|590271|622134|626415|733873|790343|800352|800489|800490|827631|888208|888209|888210|888211|888212|888213|888214|888215|888216|888217|888218|888219|888220|888221|888222|888223|888224|888225|888226|888227|891594|906128", + "upstreamId": 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"text": "Usher syndrome, type 3A" }, { - "baseId": "19439|19440|314660|314664|314667|314668|314671|314672|314674|314677|314678|314688|314690|321342|321354|321355|321357|321358|321361|321362|321365|321366|321377|321379|327487|327491|327493|327494|327495|327500|327503|327516|328540|328554|328555|328557|328560|328561|328563|328569|328592|497248|552286|701895|701896|724617|868290|868291|868292|868293|868294|868295|868296|868297|868298|868299|868300|868301|868302|868303|868304|868305|868306|868307|868308|868309|868310|868311|868312|868313|868673", + "upstreamId": "19439|19440|314660|314664|314667|314668|314671|314672|314674|314677|314678|314688|314690|321342|321354|321355|321357|321358|321361|321362|321365|321366|321377|321379|327487|327491|327493|327494|327495|327500|327503|327516|328540|328554|328555|328557|328560|328561|328563|328569|328592|497248|552286|701895|701896|724617|868290|868291|868292|868293|868294|868295|868296|868297|868298|868299|868300|868301|868302|868303|868304|868305|868306|868307|868308|868309|868310|868311|868312|868313|868673", "text": "Spermatogenic failure 7" }, { - "baseId": "19441|371260|906171|967101", + "upstreamId": "19441|371260|906171|967101", "text": "Familial hypertriglyceridemia" }, { - "baseId": "19443|983644", + "upstreamId": "19443|983644", "text": "Familial type 5 hyperlipoproteinemia" }, { - "baseId": "19444|19453|106525|181372|181373|227231|238590|238592|238595|238595|238596|250493|250494|250497|250501|250502|250503|250505|250506|250507|266843|283960|283962|283963|283971|283972|283978|284685|284693|284695|284696|284698|284699|284725|284727|284739|284742|286627|286630|286631|286635|286636|286642|286644|287049|287060|287069|287071|287072|287088|287102|287103|287104|360832|366307|392274|450379|450392|450513|517524|517535|517610|517618|517632|560541|629294|682213|683468|683470|686110|686116|686117|689703|747169|759187|792725|792726|792726|861329|861330|883310|883311|883312|883313|883314|883315|883316|883317|883318|883319|883320|883321|883322|883323|883324|883325|883326|883327|883328|883329|883330|883331|883332|883333|883334|883335|883336|883337|883338|883339|883340|883341|883342|883343|883344|883345|883346|883347|883348|887238|887239|887240|961835|971374", + "upstreamId": "19444|19453|106525|181372|181373|227231|238590|238592|238595|238595|238596|250493|250494|250497|250501|250502|250503|250505|250506|250507|266843|283960|283962|283963|283971|283972|283978|284685|284693|284695|284696|284698|284699|284725|284727|284739|284742|286627|286630|286631|286635|286636|286642|286644|287049|287060|287069|287071|287072|287088|287102|287103|287104|360832|366307|392274|450379|450392|450513|517524|517535|517610|517618|517632|560541|629294|682213|683468|683470|686110|686116|686117|689703|747169|759187|792725|792726|792726|861329|861330|883310|883311|883312|883313|883314|883315|883316|883317|883318|883319|883320|883321|883322|883323|883324|883325|883326|883327|883328|883329|883330|883331|883332|883333|883334|883335|883336|883337|883338|883339|883340|883341|883342|883343|883344|883345|883346|883347|883348|887238|887239|887240|961835|971374", "text": "Amyotrophic lateral sclerosis type 2" }, { - "baseId": "19445|19446|19453|19455|51303|238595|517535|560541|682215|792725|792726|798495", + "upstreamId": "19445|19446|19453|19455|51303|238595|517535|560541|682215|792725|792726|798495", "text": "Juvenile primary lateral sclerosis" }, { - "baseId": "19445|19447|19448|19449|19450|19451|19452|19454|19456|51226|106525|181373|214531|214532|221136|238590|238591|238592|238593|238594|238595|238595|238596|250497|250503|250506|266843|283963|283971|283972|284698|286635|286639|287072|287103|392272|392274|392283|392458|392520|392522|392526|433360|440650|450251|450255|450378|450379|450392|450414|450422|450491|450496|450505|450506|450512|450513|517524|517526|517527|517535|517535|517610|517611|517618|517625|517632|517639|517640|557812|557814|557865|559041|559043|559045|559047|560537|560539|560541|560541|560543|629293|629294|629295|629296|629297|629298|629299|629300|629301|629302|629303|629304|629305|650938|682212|682213|682214|682216|683468|683470|683471|686108|686110|686113|686117|689700|689701|691008|691009|697251|762786|789113|792725|792726|792726|792960|792961|798496|825585|825586|825587|825588|825589|825590|825591|825592|825593|825594|825595|825596|825597|825598|825599|825600|883325|883346|922516|922517|922518|922519|922520|922521|931075|931076|931077|931078|940685|940686|942562|942563|942564|942565|952885|952886|952887|959622", + "upstreamId": "19445|19447|19448|19449|19450|19451|19452|19454|19456|51226|106525|181373|214531|214532|221136|238590|238591|238592|238593|238594|238595|238595|238596|250497|250503|250506|266843|283963|283971|283972|284698|286635|286639|287072|287103|392272|392274|392283|392458|392520|392522|392526|433360|440650|450251|450255|450378|450379|450392|450414|450422|450491|450496|450505|450506|450512|450513|517524|517526|517527|517535|517535|517610|517611|517618|517625|517632|517639|517640|557812|557814|557865|559041|559043|559045|559047|560537|560539|560541|560541|560543|629293|629294|629295|629296|629297|629298|629299|629300|629301|629302|629303|629304|629305|650938|682212|682213|682214|682216|683468|683470|683471|686108|686110|686113|686117|689700|689701|691008|691009|697251|762786|789113|792725|792726|792726|792960|792961|798496|825585|825586|825587|825588|825589|825590|825591|825592|825593|825594|825595|825596|825597|825598|825599|825600|883325|883346|922516|922517|922518|922519|922520|922521|931075|931076|931077|931078|940685|940686|942562|942563|942564|942565|952885|952886|952887|959622", "text": "Infantile-onset ascending hereditary spastic paralysis" }, { - "baseId": "19457|19458|172453|442876|553249|612079|799222|972779", + "upstreamId": "19457|19458|172453|442876|553249|612079|799222|972779", "text": "Deafness, autosomal recessive 36, with or without vestibular involvement" }, { - "baseId": "19459|19460|19461|19462", + "upstreamId": "19459|19460|19461|19462", "text": "Deafness, without vestibular involvement, autosomal dominant" }, { - "baseId": "19463", + "upstreamId": "19463", "text": "Deafness, autosomal recessive 36, without vestibular involvement" }, { - "baseId": "19464|19465|19466|19467|19468|19469|19470|19471|19472|140116|140117|140118|140119|169587|195446|211374|211378|211380|253509|265577|308143|308152|308156|308164|308165|318389|318390|318393|318394|318402|318856|318863|318864|318872|318874|371215|407687|414697|429011|441315|441328|441329|503372|503391|508838|549960|622509|623002|759914|901921|901922|901923|901924|901925|901926|901927|901928|901929|901930|901931|901932|901933|903389|903390|918305|966055|966057", + "upstreamId": "19464|19465|19466|19467|19468|19469|19470|19471|19472|140116|140117|140118|140119|169587|195446|211374|211378|211380|253509|265577|308143|308152|308156|308164|308165|318389|318390|318393|318394|318402|318856|318863|318864|318872|318874|371215|407687|414697|429011|441315|441328|441329|503372|503391|508838|549960|622509|623002|759914|901921|901922|901923|901924|901925|901926|901927|901928|901929|901930|901931|901932|901933|903389|903390|918305|966055|966057", "text": "Ataxia-oculomotor apraxia type 1" }, { - "baseId": "19473|19474|103701|103702|103703|142521|142522|142523|142524|142525|142526|142528|142529|142530|142531|142533|142536|243838|243839|243841|243843|243844|244930|244931|244935|244936|244937|244938|255363|255365|255366|255367|265178|323401|323407|323408|323414|323421|333090|333092|333093|333094|333096|333097|333099|333100|333106|333110|333112|333115|333118|339914|339917|339918|339928|339932|339936|339937|339938|339947|341331|341337|341338|341339|341343|341354|341357|353330|373690|409350|415450|422047|433868|433870|433872|433875|445430|465181|465429|504979|529056|529059|529115|529117|529665|537248|566882|567286|569155|569156|569161|569604|569606|569608|573539|573540|573543|573544|609935|614401|643554|643555|643556|643557|643558|643559|643560|643561|643562|643563|652572|693746|739799|739800|754694|770353|770354|770355|776094|785031|785032|785033|789380|799820|799821|799822|799823|799824|799825|799826|799827|799828|799829|820738|842712|842713|842714|842715|842716|842717|842718|842719|842720|842721|842722|842723|842724|842725|842726|842727|842728|874193|874194|874195|874196|874197|874198|874199|876578|927427|937076|941096|949013|949014|949015|949016|949017|949018|949019|957514|957515|957516|960122|981929|981930|981931|981932", + "upstreamId": "19473|19474|103701|103702|103703|142521|142522|142523|142524|142525|142526|142528|142529|142530|142531|142533|142536|243838|243839|243841|243843|243844|244930|244931|244935|244936|244937|244938|255363|255365|255366|255367|265178|323401|323407|323408|323414|323421|333090|333092|333093|333094|333096|333097|333099|333100|333106|333110|333112|333115|333118|339914|339917|339918|339928|339932|339936|339937|339938|339947|341331|341337|341338|341339|341343|341354|341357|353330|373690|409350|415450|422047|433868|433870|433872|433875|445430|465181|465429|504979|529056|529059|529115|529117|529665|537248|566882|567286|569155|569156|569161|569604|569606|569608|573539|573540|573543|573544|609935|614401|643554|643555|643556|643557|643558|643559|643560|643561|643562|643563|652572|693746|739799|739800|754694|770353|770354|770355|776094|785031|785032|785033|789380|799820|799821|799822|799823|799824|799825|799826|799827|799828|799829|820738|842712|842713|842714|842715|842716|842717|842718|842719|842720|842721|842722|842723|842724|842725|842726|842727|842728|874193|874194|874195|874196|874197|874198|874199|876578|927427|937076|941096|949013|949014|949015|949016|949017|949018|949019|957514|957515|957516|960122|981929|981930|981931|981932", "text": "Pyogenic arthritis-pyoderma gangrenosum-acne syndrome" }, { - "baseId": "19475|187259|187260|254993|439068|512941|858757", + "upstreamId": "19475|187259|187260|254993|439068|512941|858757", "text": "Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome" }, { - "baseId": 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+ "upstreamId": 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"text": "Nephropathic cystinosis" }, { - "baseId": 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+ "upstreamId": "19482|19484|19486|19486|19488|19490|19490|19492|19493|19494|34291|34294|186969|186976|195685|195685|196260|256149|256150|256152|256152|256153|256154|256155|262353|262357|268431|272491|272491|328149|328151|328158|328162|328163|328167|328168|328169|328170|328174|328176|328191|328193|328205|328212|328213|328215|328216|328221|328223|328224|328225|328231|328240|328241|328242|328246|338029|338033|338047|338047|338073|338074|338077|338079|338086|338087|338091|338095|338102|338105|338108|338111|338112|338114|338120|338123|338125|338128|344204|344207|344208|344209|344214|344218|344222|344224|344229|344229|344237|344238|344244|344246|344247|344248|344250|344257|344258|344260|344262|344266|344267|345599|345600|345608|345608|345609|345610|345616|345616|345619|345620|345624|345626|345627|345628|345629|345632|345633|345636|345643|345644|345647|345655|345657|345661|345664|345666|345670|345674|345675|345683|358429|358431|467343|467996|487918|487918|487925|530976|531022|531462|531468|548835|571093|574257|645825|645826|645827|652641|652939|653105|653107|653266|653356|653445|704104|715396|715400|715401|727124|727124|727125|727126|727127|727128|740704|755804|771449|771450|771453|771454|771455|771457|771459|776317|779875|785542|785545|788236|792804|792805|821040|822301|845246|845247|845248|851717|852736|877276|877277|877278|877279|877280|877281|877282|877283|877284|877285|877286|877287|877288|877289|877290|877291|877292|877293|877294|877295|877296|877297|877298|877299|877300|877301|877302|877303|877304|877305|877306|877307|877308|877309|877310|877311|877312|880508|928238|928239|937900|940409|941180|949890|958092|960215|960883|972271|972272", "text": "Ocular cystinosis" }, { - "baseId": "19482|19484|19486|19487|19490|19494|19495|19497|34291|34294|186969|186969|186976|195685|196260|256152|262353|262357|268431|272491|338047|344229|345608|345616|358431|467343|467996|487918|487925|530976|531022|531462|531468|548835|571093|574257|645825|645826|645827|652641|652939|653105|653107|653266|653356|653445|704104|715396|715400|715401|727124|727125|727126|727127|727128|740704|755804|771449|771450|771453|771454|771455|771457|771459|776317|779875|785542|785545|788236|792804|792805|821040|845246|845247|845248|851717|852736|928238|928239|937900|940409|941180|949890|958092|960215|960883|972271|972272", + "upstreamId": "19482|19484|19486|19487|19490|19494|19495|19497|34291|34294|186969|186969|186976|195685|196260|256152|262353|262357|268431|272491|338047|344229|345608|345616|358431|467343|467996|487918|487925|530976|531022|531462|531468|548835|571093|574257|645825|645826|645827|652641|652939|653105|653107|653266|653356|653445|704104|715396|715400|715401|727124|727125|727126|727127|727128|740704|755804|771449|771450|771453|771454|771455|771457|771459|776317|779875|785542|785545|788236|792804|792805|821040|845246|845247|845248|851717|852736|928238|928239|937900|940409|941180|949890|958092|960215|960883|972271|972272", "text": "Juvenile nephropathic cystinosis" }, { - "baseId": "19482|19486|19494|19497|34290|34291|34292|186969|186973|186974|186976|195685|247620|247621|247622|247623|247624|256149|256150|256152|256153|262353|262354|262355|262357|268431|272491|328196|328201|328229|338035|338047|338100|338107|338116|338118|344229|344249|345604|345608|345616|345639|345646|345668|487825|487918|487925|497290|548133|571093|621563|715396|715401|727125|727127|727128|740704|755805|771453|776317|779875|785546|845248|877280|979889|979890|979891|979892|979893|979894|979895|979896|979897|979898", + "upstreamId": "19482|19486|19494|19497|34290|34291|34292|186969|186973|186974|186976|195685|247620|247621|247622|247623|247624|256149|256150|256152|256153|262353|262354|262355|262357|268431|272491|328196|328201|328229|338035|338047|338100|338107|338116|338118|344229|344249|345604|345608|345616|345639|345646|345668|487825|487918|487925|497290|548133|571093|621563|715396|715401|727125|727127|727128|740704|755805|771453|776317|779875|785546|845248|877280|979889|979890|979891|979892|979893|979894|979895|979896|979897|979898", "text": "Cystinosis" }, { - "baseId": "19486|19496|19497", + "upstreamId": "19486|19496|19497", "text": "Cystinosis, atypical nephropathic" }, { - "baseId": "19498|338326|338329|338331|338336|347978|347979|351719|351720|351721|352615|433978|433979|433980|470319|470330|470332|471152|471981|534016|534331|534480|534487|534489|574144|649531|649532|649533|649534|717485|717486|729223|742945|758118|786611|821467|849387|849388|849389|849390|891366|891367|891368|891369|891843|891844|929498|929499", + "upstreamId": "19498|338326|338329|338331|338336|347978|347979|351719|351720|351721|352615|433978|433979|433980|470319|470330|470332|471152|471981|534016|534331|534480|534487|534489|574144|649531|649532|649533|649534|717485|717486|729223|742945|758118|786611|821467|849387|849388|849389|849390|891366|891367|891368|891369|891843|891844|929498|929499", "text": "Common variable immunodeficiency 4" }, { - "baseId": "19499|19500|19500|19500|19501|19501|19502|19502|19503|19504|39524|79734|143206|143206|187237|187237|227234|227234|259730|259731|259731|284729|284732|284737|284740|284741|284741|284751|284751|284752|284754|284754|284757|284763|284764|284769|284769|284770|285403|285417|285418|285420|285420|285421|285422|285422|285423|285427|285428|287631|287632|287635|287636|287636|287638|287639|287640|287641|287652|287862|287863|287865|287866|287872|287873|287875|287875|287876|287882|287883|287889|287891|287892|287901|287901|287902|359415|360835|366372|404757|414868|448382|450625|450631|450635|450717|450717|450724|517815|517833|517834|517936|517938|550120|550121|550122|550123|557933|559113|559115|559117|559119|560936|560938|622269|629468|629469|629470|629471|629472|629473|691029|691030|691030|691031|691032|691032|691033|697326|697327|733173|747301|747302|747303|762937|762942|762945|781181|781182|781184|781185|798498|825745|825746|825747|825748|825749|883761|883762|883763|883764|883765|883766|883767|883768|883769|883770|883771|883772|883773|883774|883775|883776|883777|887275|917809|922578|922579|931154|931155|931156|939877|942612|952940|952941|952942|952943", + "upstreamId": "19499|19500|19500|19500|19501|19501|19502|19502|19503|19504|39524|79734|143206|143206|187237|187237|227234|227234|259730|259731|259731|284729|284732|284737|284740|284741|284741|284751|284751|284752|284754|284754|284757|284763|284764|284769|284769|284770|285403|285417|285418|285420|285420|285421|285422|285422|285423|285427|285428|287631|287632|287635|287636|287636|287638|287639|287640|287641|287652|287862|287863|287865|287866|287872|287873|287875|287875|287876|287882|287883|287889|287891|287892|287901|287901|287902|359415|360835|366372|404757|414868|448382|450625|450631|450635|450717|450717|450724|517815|517833|517834|517936|517938|550120|550121|550122|550123|557933|559113|559115|559117|559119|560936|560938|622269|629468|629469|629470|629471|629472|629473|691029|691030|691030|691031|691032|691032|691033|697326|697327|733173|747301|747302|747303|762937|762942|762945|781181|781182|781184|781185|798498|825745|825746|825747|825748|825749|883761|883762|883763|883764|883765|883766|883767|883768|883769|883770|883771|883772|883773|883774|883775|883776|883777|887275|917809|922578|922579|931154|931155|931156|939877|942612|952940|952941|952942|952943", "text": "Odonto-onycho-dermal dysplasia" }, { - "baseId": "19500|19500|19501|39524|79734|143206|187237|227234|259731|284729|284732|284737|284740|284741|284751|284752|284754|284757|284763|284764|284769|284770|285403|285417|285418|285420|285421|285422|285423|285427|285428|287631|287632|287635|287636|287638|287639|287640|287641|287652|287862|287863|287865|287866|287872|287873|287875|287876|287882|287883|287889|287891|287892|287901|287902|404757|450631|450717|691029|691030|691032|691033|697326|697327|747302|883761|883762|883763|883764|883765|883766|883767|883768|883769|883770|883771|883772|883773|883774|883775|883776|883777|887275|977687", + "upstreamId": "19500|19500|19501|39524|79734|143206|187237|227234|259731|284729|284732|284737|284740|284741|284751|284752|284754|284757|284763|284764|284769|284770|285403|285417|285418|285420|285421|285422|285423|285427|285428|287631|287632|287635|287636|287638|287639|287640|287641|287652|287862|287863|287865|287866|287872|287873|287875|287876|287882|287883|287889|287891|287892|287901|287902|404757|450631|450717|691029|691030|691032|691033|697326|697327|747302|883761|883762|883763|883764|883765|883766|883767|883768|883769|883770|883771|883772|883773|883774|883775|883776|883777|887275|977687", "text": "Schopf-Schulz-Passarge syndrome" }, { - "baseId": "19500|19500|19500|19501|19501|19502|19502|39524|45629|79734|143206|143206|187237|187237|227234|227234|259730|259731|284741|284741|284751|284751|284752|284754|284754|284757|284763|284764|284769|284769|284770|285417|285418|285420|285420|285421|285422|285422|285423|285427|285428|287636|287636|287638|287639|287640|287641|287652|287875|287875|287882|287883|287889|287891|287892|287901|287901|287902|359415|359415|360835|366372|404757|414868|448382|450625|450631|450635|450717|450717|450724|517815|517833|517834|517936|517938|557933|559113|559115|559117|559119|560936|560938|622269|622269|629468|629469|629470|629471|629472|629473|691029|691030|691030|691031|691032|691032|691033|697326|697327|733173|747301|747302|747303|762937|762942|762945|781181|781182|781184|781185|825745|825746|825747|825748|825749|883761|883762|883763|883764|883765|883766|883767|883768|883769|883770|883771|883772|883773|883774|883775|883776|883777|887275|917746|922578|922579|931154|931155|931156|939877|942612|952940|952941|952942|952943", + "upstreamId": "19500|19500|19500|19501|19501|19502|19502|39524|45629|79734|143206|143206|187237|187237|227234|227234|259730|259731|284741|284741|284751|284751|284752|284754|284754|284757|284763|284764|284769|284769|284770|285417|285418|285420|285420|285421|285422|285422|285423|285427|285428|287636|287636|287638|287639|287640|287641|287652|287875|287875|287882|287883|287889|287891|287892|287901|287901|287902|359415|359415|360835|366372|404757|414868|448382|450625|450631|450635|450717|450717|450724|517815|517833|517834|517936|517938|557933|559113|559115|559117|559119|560936|560938|622269|622269|629468|629469|629470|629471|629472|629473|691029|691030|691030|691031|691032|691032|691033|697326|697327|733173|747301|747302|747303|762937|762942|762945|781181|781182|781184|781185|825745|825746|825747|825748|825749|883761|883762|883763|883764|883765|883766|883767|883768|883769|883770|883771|883772|883773|883774|883775|883776|883777|887275|917746|922578|922579|931154|931155|931156|939877|942612|952940|952941|952942|952943", "text": "Tooth agenesis, selective, 4" }, { - "baseId": "19500", + "upstreamId": "19500", "text": "WNT10A-Related Disorders" }, { - "baseId": 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+ "upstreamId": "19501|20897|106750|165611|165614|165615|165619|172936|249812|249813|249814|249815|249816|250081|250082|250083|250084|259690|266292|268021|269619|279711|279718|279719|279724|279731|279733|279734|279736|280000|280002|280007|280021|280030|280048|280049|280051|280061|280062|281321|281323|281327|281330|281331|281333|281339|281345|281348|281355|281511|281513|281518|281519|281520|281521|281522|281523|281524|281529|281532|281533|281534|281537|281540|281543|282145|282146|282147|282150|282152|282182|282184|282199|283515|283516|283517|283525|283530|283531|283532|283546|283549|283550|283551|283642|283656|283657|283659|283660|283667|283675|448540|448751|515626|685832|690702|690704|690705|824675|863969|863971|863972|863973|863974|863975|863976|863977|863979|863980|863981|863982|863983|863984|863985|863986|863988|865147|865148|880790|880791|880792|880793|880794|880795|880796|880797|880798|880799|880800|880801|880802|880803|880804|880805|880806|880807|880808|880809|880810|880811|880812|880813|880814|880815|880816|880817|880818|880819|880820|880821|880822|880823|880824|880826|880827|880828|880829|880830|880831|880832|882776|882777", "text": "Hypohidrotic ectodermal dysplasia" }, { - "baseId": "19501|143206|284754|287901|794111|794112|794113|800840|917747", + "upstreamId": "19501|143206|284754|287901|794111|794112|794113|800840|917747", "text": "Reduced number of teeth" }, { - "baseId": "19505|614368", + "upstreamId": "19505|614368", "text": "Familial chronic mucocutaneous candidiasis" }, { - "baseId": "19505|581228", + "upstreamId": "19505|581228", "text": "Aspergillosis, susceptibility to" }, { - "baseId": "19506", + "upstreamId": "19506", "text": "Invasive pneumococcal disease, protection against" }, { - "baseId": "19506|20506|29052|30165|30200|30372|32764", + "upstreamId": "19506|20506|29052|30165|30200|30372|32764", "text": "Malaria, resistance to" }, { - "baseId": "19506|29762|32992", + "upstreamId": "19506|29762|32992", "text": "Mycobacterium tuberculosis, protection against" }, { - "baseId": "19506", + "upstreamId": "19506", "text": "Bacteremia, resistance to" }, { - "baseId": "19507|19508|19509|19510|19511|39519|137710|222400|222408|241986|321882|321890|321906|321925|331202|331209|331225|338031|338032|338048|339961|339964|339965", + "upstreamId": "19507|19508|19509|19510|19511|39519|137710|222400|222408|241986|321882|321890|321906|321925|331202|331209|331225|338031|338032|338048|339961|339964|339965", "text": "Pleuropulmonary blastoma" }, { - "baseId": 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"text": "DICER1-related pleuropulmonary blastoma cancer predisposition syndrome" }, { - "baseId": "19513|19514|19515|19516|903678|903679|903680", + "upstreamId": "19513|19514|19515|19516|903678|903679|903680", "text": "Nanophthalmos 2" }, { - "baseId": 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+ "upstreamId": 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"text": "Microphthalmia, isolated 5" }, { - "baseId": "19518|19519|19520|19521|19522|19523|19524|19525|19526|19527|433763|710976|799508|799509|799510|981600|981601", + "upstreamId": "19518|19519|19520|19521|19522|19523|19524|19525|19526|19527|433763|710976|799508|799509|799510|981600|981601", "text": "Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to" }, { - "baseId": 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+ "upstreamId": 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"text": "Eichsfeld type congenital muscular dystrophy" }, { - "baseId": "19531|19535|101851|101852|101855|101857|101859|101860|101862|101863|135731|172199|191079|206785|206787|249859|249860|249865|249866|249874|249876|249877|249878|249879|249880|280264|280268|280270|280274|280276|280277|280278|280290|280295|280299|280301|280308|280311|280312|280313|280318|280319|280663|280669|280678|280683|280685|280691|280692|280694|280696|281957|281958|281959|281964|281965|281987|281989|282040|282046|282048|282050|282065|282068|282069|282072|282073|282080|282081|282088|282102|365090|365196|485992|515764|619997|620721|864232|864233|864234|864235|864236|864237|864238|864239|864240|864241|864242|864243|864244|864245|864246|864247|864248|864249|864250|864251|864252|864253|864254|864255|864256|864257|864258|864259|864260|864261|864262|864263|865173|865174", + "upstreamId": "19531|19535|101851|101852|101855|101857|101859|101860|101862|101863|135731|172199|191079|206785|206787|249859|249860|249865|249866|249874|249876|249877|249878|249879|249880|280264|280268|280270|280274|280276|280277|280278|280290|280295|280299|280301|280308|280311|280312|280313|280318|280319|280663|280669|280678|280683|280685|280691|280692|280694|280696|281957|281958|281959|281964|281965|281987|281989|282040|282046|282048|282050|282065|282068|282069|282072|282073|282080|282081|282088|282102|365090|365196|485992|515764|619997|620721|864232|864233|864234|864235|864236|864237|864238|864239|864240|864241|864242|864243|864244|864245|864246|864247|864248|864249|864250|864251|864252|864253|864254|864255|864256|864257|864258|864259|864260|864261|864262|864263|865173|865174", "text": "SEPN1-Related Disorders" }, { - "baseId": 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"text": "Congenital myopathy with fiber type disproportion" }, { - "baseId": "19537|19538|19539|19540|19541|19542|19543|19545|206560|207211|207212|213560|251945|268642|297302|297309|299306|299309|303512|303722|303757|303761|303762|303763|361183|428412|428413|428415|511595|615949|615950|615951|620194|735068|765103|894090|894091|894092|894093|894094|894095|894096|894097|894098|894099|894100|894101|894102|894103|894104|894105|894106|894107|894108|894109|894110|894111|894112|894113|896090", + "upstreamId": "19537|19538|19539|19540|19541|19542|19543|19545|206560|207211|207212|213560|251945|268642|297302|297309|299306|299309|303512|303722|303757|303761|303762|303763|361183|428412|428413|428415|511595|615949|615950|615951|620194|735068|765103|894090|894091|894092|894093|894094|894095|894096|894097|894098|894099|894100|894101|894102|894103|894104|894105|894106|894107|894108|894109|894110|894111|894112|894113|896090", "text": "Oculocutaneous albinism type 4" }, { - "baseId": "19543|19544|207211|816454", + "upstreamId": "19543|19544|207211|816454", "text": "Skin/hair/eye pigmentation, variation in, 5" }, { - "baseId": 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+ "upstreamId": 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"text": "Malignant melanoma of skin" }, { - "baseId": "19546|19547|19548|19549|19550|19551|19552|19553|19554|19555|19556|19558|19564|19567|39509|39510|39513|39513|39514|39515|54609|136194|141614|141616|152850|173819|173835|173968|187111|187111|195351|195994|205739|205740|211037|211038|211039|211046|211049|211053|211055|211057|211058|229181|361179|361179|361180|434047|496327|576167|611975|612145|790479|790480|798545|798546|918249|918251|970795", + "upstreamId": "19546|19547|19548|19549|19550|19551|19552|19553|19554|19555|19556|19558|19564|19567|39509|39510|39513|39513|39514|39515|54609|136194|141614|141616|152850|173819|173835|173968|187111|187111|195351|195994|205739|205740|211037|211038|211039|211046|211049|211053|211055|211057|211058|229181|361179|361179|361180|434047|496327|576167|611975|612145|790479|790480|798545|798546|918249|918251|970795", "text": "Diabetes mellitus AND insipidus with optic atrophy AND deafness" }, { - "baseId": "19558|195995|207139|207141|207142|207144|428319", + "upstreamId": "19558|195995|207139|207141|207142|207144|428319", "text": "Wolfram syndrome" }, { - "baseId": "19558|19566|19568|54595|54597|54598|54599|54600|54601|54603|54604|54605|54606|54607|54609|54612|54615|54616|54618|54619|54620|54622|54623|54625|54626|54627|54629|54630|101221|101222|101224|136193|136194|136195|136197|136198|141614|141616|141617|141618|141619|141620|141621|141622|141623|141624|152849|152850|173816|173818|173821|173823|173827|173832|173833|173835|173841|173842|173843|173955|173959|173964|173966|173970|173972|173974|173979|177356|195351|195995|207145|211031|211032|211034|211038|211040|211049|211051|211053|211054|211055|211056|211062|211068|211069|211070|211072|211079|211083|211086|229179|229180|229190|229193|229198|229199|229202|251553|273248|273254|293922|293925|293926|293936|293938|293945|293949|293950|293956|293961|293964|295280|295281|295296|295297|295308|295313|295314|295321|295325|295326|295327|295328|295329|295331|295337|295338|295339|299058|299059|299060|299064|299066|299074|299075|299080|299081|299082|299083|299094|299097|299098|299099|299101|299111|299113|299114|299120|299122|299130|299131|299132|299133|299134|299143|299148|299150|299157|299159|299160|380208|421492|428318|496790|500871|501018|501178|582065|620171|749032|764601|892006|892007|892008|892009|892010|892011|892012|892013|892014|892015|892016|892017|892018|892019|892020|892021|892022|892023|892024|892025|892026|892027|892028|892029|892030|892031|892032|892033|892034|892035|892036|892037|892038|892039|892040|892041|892042|892043|892044|892045|892046|892047|892048|892049|892050", + "upstreamId": "19558|19566|19568|54595|54597|54598|54599|54600|54601|54603|54604|54605|54606|54607|54609|54612|54615|54616|54618|54619|54620|54622|54623|54625|54626|54627|54629|54630|101221|101222|101224|136193|136194|136195|136197|136198|141614|141616|141617|141618|141619|141620|141621|141622|141623|141624|152849|152850|173816|173818|173821|173823|173827|173832|173833|173835|173841|173842|173843|173955|173959|173964|173966|173970|173972|173974|173979|177356|195351|195995|207145|211031|211032|211034|211038|211040|211049|211051|211053|211054|211055|211056|211062|211068|211069|211070|211072|211079|211083|211086|229179|229180|229190|229193|229198|229199|229202|251553|273248|273254|293922|293925|293926|293936|293938|293945|293949|293950|293956|293961|293964|295280|295281|295296|295297|295308|295313|295314|295321|295325|295326|295327|295328|295329|295331|295337|295338|295339|299058|299059|299060|299064|299066|299074|299075|299080|299081|299082|299083|299094|299097|299098|299099|299101|299111|299113|299114|299120|299122|299130|299131|299132|299133|299134|299143|299148|299150|299157|299159|299160|380208|421492|428318|496790|500871|501018|501178|582065|620171|749032|764601|892006|892007|892008|892009|892010|892011|892012|892013|892014|892015|892016|892017|892018|892019|892020|892021|892022|892023|892024|892025|892026|892027|892028|892029|892030|892031|892032|892033|892034|892035|892036|892037|892038|892039|892040|892041|892042|892043|892044|892045|892046|892047|892048|892049|892050", "text": "WFS1-Related Spectrum Disorders" }, { - "baseId": "19559|19560|19561|19562|19563|19565|19566|19568|54595|54597|54598|54600|54601|54603|54604|54605|54606|54607|54609|54612|54615|54616|54618|54619|54620|54622|54623|54625|54626|54627|54629|54630|101221|101222|101224|136193|136194|136195|136197|136198|141614|141614|141616|141617|141618|141619|141620|141621|141623|141624|152849|152850|173816|173818|173819|173821|173823|173826|173827|173832|173833|173835|173835|173841|173842|173843|173955|173959|173964|173966|173968|173970|173972|173974|173979|177356|187111|195351|195351|195994|207145|211031|211032|211034|211038|211038|211039|211046|211049|211051|211053|211053|211054|211055|211055|211058|211062|211068|211070|211072|211079|211083|211086|227272|229179|229180|229181|229193|229198|229199|229202|251553|273248|273254|293922|293925|293926|293936|293938|293945|293949|293950|293961|295280|295281|295296|295297|295308|295313|295314|295321|295325|295326|295327|295328|295329|295331|295338|299058|299059|299060|299064|299066|299074|299075|299080|299081|299082|299094|299097|299098|299099|299101|299111|299113|299114|299120|299122|299131|299132|299133|299134|299148|299150|299157|299159|299160|361179|361179|380208|428318|434047|496327|496790|500871|501018|501178|576167|582065|749032|764601|892006|892007|892008|892009|892010|892011|892012|892013|892014|892015|892016|892017|892018|892019|892020|892021|892022|892023|892024|892025|892026|892027|892028|892029|892030|892031|892032|892033|892034|892035|892036|892037|892038|892039|892040|892041|892042|892043|892044|892045|892046|892047|892048|892049|892050", + "upstreamId": "19559|19560|19561|19562|19563|19565|19566|19568|54595|54597|54598|54600|54601|54603|54604|54605|54606|54607|54609|54612|54615|54616|54618|54619|54620|54622|54623|54625|54626|54627|54629|54630|101221|101222|101224|136193|136194|136195|136197|136198|141614|141614|141616|141617|141618|141619|141620|141621|141623|141624|152849|152850|173816|173818|173819|173821|173823|173826|173827|173832|173833|173835|173835|173841|173842|173843|173955|173959|173964|173966|173968|173970|173972|173974|173979|177356|187111|195351|195351|195994|207145|211031|211032|211034|211038|211038|211039|211046|211049|211051|211053|211053|211054|211055|211055|211058|211062|211068|211070|211072|211079|211083|211086|227272|229179|229180|229181|229193|229198|229199|229202|251553|273248|273254|293922|293925|293926|293936|293938|293945|293949|293950|293961|295280|295281|295296|295297|295308|295313|295314|295321|295325|295326|295327|295328|295329|295331|295338|299058|299059|299060|299064|299066|299074|299075|299080|299081|299082|299094|299097|299098|299099|299101|299111|299113|299114|299120|299122|299131|299132|299133|299134|299148|299150|299157|299159|299160|361179|361179|380208|428318|434047|496327|496790|500871|501018|501178|576167|582065|749032|764601|892006|892007|892008|892009|892010|892011|892012|892013|892014|892015|892016|892017|892018|892019|892020|892021|892022|892023|892024|892025|892026|892027|892028|892029|892030|892031|892032|892033|892034|892035|892036|892037|892038|892039|892040|892041|892042|892043|892044|892045|892046|892047|892048|892049|892050", "text": "Autosomal dominant nonsyndromic deafness 6" }, { - "baseId": "19565|39513|39516|141614|173819|173835|173968|187111|195351|195351|195994|211038|211039|211046|211053|211055|211058|211082|229181|229205|361179|434047|496327|576167|964233", + "upstreamId": "19565|39513|39516|141614|173819|173835|173968|187111|195351|195351|195994|211038|211039|211046|211053|211055|211058|211082|229181|229205|361179|434047|496327|576167|964233", "text": "Wolfram-like syndrome, autosomal dominant" }, { - "baseId": "19565", + "upstreamId": "19565", "text": "DFNA6/14/38 Nonsyndromic Low-Frequency Sensorineural Hearing Loss" }, { - "baseId": "19567", + "upstreamId": "19567", "text": "Diabetes mellitus, noninsulin-dependent, association with" }, { - "baseId": "19569|678975", + "upstreamId": "19569|678975", "text": "Short sleep, familial natural, 1" }, { - "baseId": "19570|19571|19572|19573|19574|19575|19576|19577|19578|19579|19580|19581|19584|19585|133981|133982|153583|165485|222151|244659|244661|244662|244664|254224|254225|314466|314467|314468|314470|314471|321104|321112|321127|321143|321145|321146|327233|327236|327237|327238|328232|328233|328234|328239|328248|359020|359021|359022|359023|359024|359025|359026|411515|429247|503308|504268|540480|540481|540482|540483|564772|565901|612293|612354|620409|868198|868199|868200|868201", + "upstreamId": "19570|19571|19572|19573|19574|19575|19576|19577|19578|19579|19580|19581|19584|19585|133981|133982|153583|165485|222151|244659|244661|244662|244664|254224|254225|314466|314467|314468|314470|314471|321104|321112|321127|321143|321145|321146|327233|327236|327237|327238|328232|328233|328234|328239|328248|359020|359021|359022|359023|359024|359025|359026|411515|429247|503308|504268|540480|540481|540482|540483|564772|565901|612293|612354|620409|868198|868199|868200|868201", "text": "Congenital generalized lipodystrophy type 2" }, { - "baseId": "19574|153583|153584|564772|919375", + "upstreamId": "19574|153583|153584|564772|919375", "text": "Encephalopathy, progressive, with or without lipodystrophy" }, { - "baseId": "19582|19583|19583|564772", + "upstreamId": "19582|19583|19583|564772", "text": "Spastic paraplegia 17" }, { - "baseId": "19582|19583|24244|24245|24246|24247|133981|133982|141142|141142|141143|141144|141145|141146|141147|141147|165485|186076|191530|212578|213574|221697|221699|222151|224877|244499|244659|244662|244664|245262|252786|252786|252788|252790|252795|252795|254224|254225|302780|302781|302785|302795|302796|302798|306103|306109|306110|306131|306135|306149|306154|310897|310901|310902|310903|310904|310905|310906|310908|310909|311055|311072|311080|311081|311082|311085|311086|311087|311089|311090|314466|314467|314468|314470|314471|321104|321112|321127|321143|321145|321146|327233|327236|327237|327238|328232|328233|328234|328239|328248|395627|395634|395871|407124|425751|434618|457340|503308|504268|564772|565901|609035|620409|636133|683004|833570|868198|868199|868200|868201|897972|897973|897974|897975|897976|897977|897978|897979|897980|897981|897982|897983|900352", + "upstreamId": "19582|19583|24244|24245|24246|24247|133981|133982|141142|141142|141143|141144|141145|141146|141147|141147|165485|186076|191530|212578|213574|221697|221699|222151|224877|244499|244659|244662|244664|245262|252786|252786|252788|252790|252795|252795|254224|254225|302780|302781|302785|302795|302796|302798|306103|306109|306110|306131|306135|306149|306154|310897|310901|310902|310903|310904|310905|310906|310908|310909|311055|311072|311080|311081|311082|311085|311086|311087|311089|311090|314466|314467|314468|314470|314471|321104|321112|321127|321143|321145|321146|327233|327236|327237|327238|328232|328233|328234|328239|328248|395627|395634|395871|407124|425751|434618|457340|503308|504268|564772|565901|609035|620409|636133|683004|833570|868198|868199|868200|868201|897972|897973|897974|897975|897976|897977|897978|897979|897980|897981|897982|897983|900352", "text": "Distal hereditary motor neuronopathy type 5" }, { - "baseId": "19582|19583|462063", + "upstreamId": "19582|19583|462063", "text": "NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VC" }, { - "baseId": "19586|19587|19588|19589|19590|19591|19595|19596|19598|19599|19600|102419|102420|190670|227411|270080|272020|274190|335385|335386|335388|335391|345210|345213|345214|345217|349946|349949|349952|350959|350963|350965|350967|404597|413598|422317|424266|424671|431003|438204|470368|471386|495744|533507|533598|534079|534087|534089|549802|571214|571220|571222|571224|571231|571232|572887|573499|575096|575097|575098|575099|575099|578574|648661|648662|648663|648664|648665|648666|648667|648668|648669|653126|653551|654901|705482|728650|742400|757516|773101|786373|791980|791981|791982|798763|798764|801198|801568|848385|848386|848387|886072|886073|886074|886075|886076|886077|886078|886079|886080|886081|886082|886083|886084|886085|886086|887459|929179|929180|929181|929182|929183|938973|938974|938975|961891|983456", + "upstreamId": "19586|19587|19588|19589|19590|19591|19595|19596|19598|19599|19600|102419|102420|190670|227411|270080|272020|274190|335385|335386|335388|335391|345210|345213|345214|345217|349946|349949|349952|350959|350963|350965|350967|404597|413598|422317|424266|424671|431003|438204|470368|471386|495744|533507|533598|534079|534087|534089|549802|571214|571220|571222|571224|571231|571232|572887|573499|575096|575097|575098|575099|575099|578574|648661|648662|648663|648664|648665|648666|648667|648668|648669|653126|653551|654901|705482|728650|742400|757516|773101|786373|791980|791981|791982|798763|798764|801198|801568|848385|848386|848387|886072|886073|886074|886075|886076|886077|886078|886079|886080|886081|886082|886083|886084|886085|886086|887459|929179|929180|929181|929182|929183|938973|938974|938975|961891|983456", "text": "Pigmentary pallidal degeneration" }, { - "baseId": "19587|19592|19593|19594|19595", + "upstreamId": "19587|19592|19593|19594|19595", "text": "Neurodegeneration with brain iron accumulation 1, atypical" }, { - "baseId": "19587|19595|19596|19597|19598|361063|361064|575099|578574", + "upstreamId": "19587|19595|19596|19597|19598|361063|361064|575099|578574", "text": "Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration" }, { - "baseId": 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+ "upstreamId": 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"text": "Dystonia" }, { - "baseId": 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+ "upstreamId": "19601|19602|19603|19604|19605|19606|135767|135768|135769|135770|135771|135772|142825|142826|142827|171852|188047|193689|195428|206943|210786|210788|210789|210790|210794|210795|265738|270144|273120|274651|285141|285142|285144|285146|285147|285155|285157|285160|285162|285163|285169|285179|285184|285185|285194|285777|285787|285788|285789|285806|285808|285811|285824|285826|285829|285867|285870|288113|288115|288116|288117|288120|288122|288129|288138|288140|288142|288147|288148|288156|288157|288493|288511|288516|288535|288536|288537|288538|288540|288564|288565|288568|288573|288576|353888|353889|359347|366468|366469|413895|414875|432352|432353|432354|432355|432356|439310|448581|450398|450542|450544|450761|481464|489915|492804|517754|517755|517756|517852|517857|517859|517939|517940|517946|517948|517953|557894|557896|557898|557951|559133|561003|561005|561007|561014|561024|581749|586383|587427|622868|629507|629508|629509|629510|629511|629512|629513|629514|629515|629516|629517|629518|629519|629520|650918|697372|708086|719684|719686|733243|747390|747392|763027|763029|781229|781230|794101|795186|795187|819134|825811|825812|825813|825814|825815|825816|825817|825818|825819|825820|825821|825822|825823|825824|825825|825826|825827|884057|884058|884059|884060|884061|884062|884063|884064|884065|884066|884067|884068|884069|884070|884071|884072|884073|884074|884075|884076|884077|884078|884079|884080|884081|884082|884083|884084|884085|887306|905869|922598|922599|922600|922601|922602|922603|931167|931168|931169|931170|931171|931172|940701|942633|942634|942635|942636|942637|952963|961836", "text": "Biotin-responsive basal ganglia disease" }, { - "baseId": 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+ "upstreamId": 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"text": "Bardet-Biedl syndrome 2" }, { - "baseId": "19609|19615|19620|19622|20348|20357|20358", + "upstreamId": "19609|19615|19620|19622|20348|20357|20358", "text": "Bardet-biedl syndrome 2/6, digenic" }, { - "baseId": "19609|19611|19616|19616|19617|205603|205604|358376|547812|802209|802210", + "upstreamId": "19609|19611|19616|19616|19617|205603|205604|358376|547812|802209|802210", "text": "Retinitis pigmentosa 74" }, { - "baseId": "19612|19621", + "upstreamId": "19612|19621", "text": "Bardet-biedl syndrome 2/4, digenic" }, { - "baseId": "19613|19616|19619", + "upstreamId": "19613|19616|19619", "text": "Bardet-biedl syndrome 1/2, digenic" }, { - "baseId": "19617", + "upstreamId": "19617", "text": "BBS2-Related Disorders" }, { - "baseId": 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+ "upstreamId": "19624|19625|19626|19627|19628|19629|142872|142873|142874|142875|142876|142877|142878|142879|142880|142884|142885|142886|142887|142888|170939|170940|170941|170942|170943|170944|170945|170946|170947|170948|170949|170950|170951|170952|192544|194517|210351|210352|210361|210362|210363|210365|210367|210369|210371|210372|210375|210376|210377|210378|210379|210380|210381|210383|210384|210385|210386|210387|210388|243581|243582|243583|243584|259069|259070|259072|259073|259075|259077|259078|259080|259081|335626|335629|335633|335635|335637|335641|335645|335650|335651|335652|335654|335655|335656|335664|335668|335672|335673|335677|335680|335682|345370|345372|345379|345383|345388|345390|345391|345393|345395|345405|345407|345409|345411|350049|350051|350053|350055|350056|350059|350060|350063|350065|351082|351083|351086|351087|351090|351091|351094|351095|351098|377045|377047|378049|378259|378262|379702|379703|379704|403642|403652|403663|403666|404185|404187|404191|404192|410760|410762|469391|469395|469401|470440|470441|470933|471423|485795|510841|510842|533567|533601|533604|533645|534129|571139|571270|571273|572923|573563|573566|575112|575113|615174|648744|648745|648746|648747|648748|648749|648750|648751|648752|648753|653653|684884|684887|689203|728701|773145|821332|848458|848459|848460|848461|848462|848463|886188|886189|886190|886191|886192|886193|886194|886195|886196|886197|886198|886199|886200|886201|886202|886203|886204|886205|886206|886207|886208|886209|886210|886211|886212|886213|886214|886215|886216|886217|886218|886219|886220|886221|929214|929215|929216|938997|938998|951119|958855|975871", "text": "Arterial tortuosity syndrome" }, { - "baseId": 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"text": "Familial thoracic aortic aneurysm and aortic dissection" }, { - "baseId": "19630|19631|33465|81386|207422|264297|300838|300840|300841|303736|303739|303741|303771|303777|303779|308341|308347|308352|308452|522477|563677|625870|686905|699636|735716|896668|896669|896670|896671|896672|896673|896674|896675|896676|896677|896678|896679|896680|896681|896682|896683|896684|896685|896686|896687|896688|896689|896690|896691|896692|896693|896695|896696|896697|896698|896699|896700|896701|896702|896703|896704|896705|900250|900251|978244|978245", + "upstreamId": "19630|19631|33465|81386|207422|264297|300838|300840|300841|303736|303739|303741|303771|303777|303779|308341|308347|308352|308452|522477|563677|625870|686905|699636|735716|896668|896669|896670|896671|896672|896673|896674|896675|896676|896677|896678|896679|896680|896681|896682|896683|896684|896685|896686|896687|896688|896689|896690|896691|896692|896693|896695|896696|896697|896698|896699|896700|896701|896702|896703|896704|896705|900250|900251|978244|978245", "text": "Carpenter syndrome 1" }, { - "baseId": "19630|207422|264297|300834|300842|303735|303740|303742|303774|308425|308427|308428|308444|308452|404641|456662|635117|686905|699636|722088|750129|750130|782593|819703|832154|933391|945106|945107", + "upstreamId": "19630|207422|264297|300834|300842|303735|303740|303742|303774|308425|308427|308428|308444|308452|404641|456662|635117|686905|699636|722088|750129|750130|782593|819703|832154|933391|945106|945107", "text": "Carpenter syndrome" }, { - "baseId": "19632|19633|19634", + "upstreamId": "19632|19633|19634", "text": "Uric acid concentration, serum, quantitative trait locus 2" }, { - "baseId": "19635|19636|19637|214056|214057|214058|214059|214060|293206|294736|294737|294739|294741|294742|294754|296309|296317|296324|296326|296334|296343|296344|296345|296415|296416|296417|296423|296426|296510|296520|296530|296531|300062|300063|300066|300067|300070|300072|300084|300090|300091|300096|300103|300105|300131|300132|300143|300158|300159|300168|300170|300226|620177|734341|818237|818238|889815|889816|889817|892580|892581|892582|892583|892584|892585|892586|892587|892588|892589|892590|892591|892592", + "upstreamId": "19635|19636|19637|214056|214057|214058|214059|214060|293206|294736|294737|294739|294741|294742|294754|296309|296317|296324|296326|296334|296343|296344|296345|296415|296416|296417|296423|296426|296510|296520|296530|296531|300062|300063|300066|300067|300070|300072|300084|300090|300091|300096|300103|300105|300131|300132|300143|300158|300159|300168|300170|300226|620177|734341|818237|818238|889815|889816|889817|892580|892581|892582|892583|892584|892585|892586|892587|892588|892589|892590|892591|892592", "text": "Renal hypouricemia 2" }, { - "baseId": "19638|19639|19640|19641|19642|19643|19644|19645|19646|88096|304460|304464|308209|313232|313325|493544|899018|899019|899020|899021|899022|899023|899024|899025", + "upstreamId": "19638|19639|19640|19641|19642|19643|19644|19645|19646|88096|304460|304464|308209|313232|313325|493544|899018|899019|899020|899021|899022|899023|899024|899025", "text": "Acroerythrokeratoderma" }, { - "baseId": 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"19647|19648|19649|19650|19651|19652|19653|33862|173758|173759|173898|173899|173900|229025|229026|229027|229028|289077|289089|289092|289095|289839|289840|289843|289844|289845|289846|289850|289867|289880|292902|292906|292912|292922|292929|292932|292933|292951|292952|292959|292963|292965|293171|293177|293182|293203|293207|293208|293211|293218|293231|293232|293233|293236|538973|543092|630987|653857|733868|733869|748071|763689|763690|763691|763693|763694|763696|781579|888161|888162|888163|888164|888165|888166|888167|888168|888169|888170|888171|888172|888173|888174|888175|888176|888177|888178|888179|888180|888181|888182|888183|888184|888185|888186|888187|888188|888189|888190|888191|891589|891590|918807", "text": "Hermansky-Pudlak syndrome 3" }, { - "baseId": 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"text": "Hermansky-Pudlak syndrome" }, { - "baseId": "19654|682341", + "upstreamId": "19654|682341", "text": "Lethal congenital contractural syndrome 3" }, { - "baseId": "19655|19656|19657|19658|19659|19660|19661|19663|19664|19667|19668|140290|140291|140292|140293|140296|140297|171767|211434|211440|211441|211443|264446|265652|309183|309185|309197|309208|309210|309213|309215|309219|309222|309226|309227|313903|313906|313908|313916|319783|319784|319785|319786|319787|319794|319796|319797|319807|319812|319819|319821|319822|320320|320327|320331|320332|320334|371494|415211|502732|620340|865239|865240|865241|865242|865243|865244|865245|865246|865247|865248|865249|865250|865251|865252|865253|865254|865255|865256|865257|865258|964338|970014", + "upstreamId": "19655|19656|19657|19658|19659|19660|19661|19663|19664|19667|19668|140290|140291|140292|140293|140296|140297|171767|211434|211440|211441|211443|264446|265652|309183|309185|309197|309208|309210|309213|309215|309219|309222|309226|309227|313903|313906|313908|313916|319783|319784|319785|319786|319787|319794|319796|319797|319807|319812|319819|319821|319822|320320|320327|320331|320332|320334|371494|415211|502732|620340|865239|865240|865241|865242|865243|865244|865245|865246|865247|865248|865249|865250|865251|865252|865253|865254|865255|865256|865257|865258|964338|970014", "text": "Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3" }, { - "baseId": "19657|19661|19662|20121|20130|24618|24628|24656|24657|24680|24681|24686|24741|28534|28535|28544|28546|28552|34161|34162|34163|34164|34165|34166|34167|34168|34169|34170|34171|34172|39389|39417|39418|48174|48364|76573|136325|152761|165641|171703|186292|208318|211189|211701|226044|226045|226873|227162|227163|227164|227165|227166|227167|237763|237764|247444|247445|354304|414701|414702|414704|414705|414706|414707|414708|414709|414710|424202|424203|424204|424205|424206|424207|424208|424209|424210|424211|424212|424213|424215|424216|424217|424218|434403|434404|439690|439691|480531|480532|480533|480534|482269|513402|513404|540434|540435|550875|550876|677581|677722|677810|679356|679357|679358|679359|679360|679361|681059|789102|789103|801542|801543|858735|858758", + "upstreamId": "19657|19661|19662|20121|20130|24618|24628|24656|24657|24680|24681|24686|24741|28534|28535|28544|28546|28552|34161|34162|34163|34164|34165|34166|34167|34168|34169|34170|34171|34172|39389|39417|39418|48174|48364|76573|136325|152761|165641|171703|186292|208318|211189|211701|226044|226045|226873|227162|227163|227164|227165|227166|227167|237763|237764|247444|247445|354304|414701|414702|414704|414705|414706|414707|414708|414709|414710|424202|424203|424204|424205|424206|424207|424208|424209|424210|424211|424212|424213|424215|424216|424217|424218|434403|434404|439690|439691|480531|480532|480533|480534|482269|513402|513404|540434|540435|550875|550876|677581|677722|677810|679356|679357|679358|679359|679360|679361|681059|789102|789103|801542|801543|858735|858758", "text": "Mitochondrial diseases" }, { - "baseId": "19662|28541", + "upstreamId": "19662|28541", "text": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic" }, { - "baseId": "19664|28535|28538|28539|28540|28541|28546|28552|39690|76573|140290|140291|140292|140293|140296|140297|142453|142463|171767|190806|193515|202922|202938|202990|203013|203024|203030|203036|203050|211434|211440|211441|211443|242144|264446|264639|265652|309183|309185|309197|309208|309210|309213|309215|309219|309222|309226|309227|313903|313906|313908|313916|319783|319784|319785|319786|319787|319794|319796|319797|319807|319812|319819|319821|319822|320320|320327|320331|320332|320334|371494|415211|502732|576169|614404|620340|682355|682357|798690|798691|798692|865239|865240|865241|865242|865243|865244|865245|865246|865247|865248|865249|865250|865251|865252|865253|865254|865255|865256|865257|865258|971030", + "upstreamId": "19664|28535|28538|28539|28540|28541|28546|28552|39690|76573|140290|140291|140292|140293|140296|140297|142453|142463|171767|190806|193515|202922|202938|202990|203013|203024|203030|203036|203050|211434|211440|211441|211443|242144|264446|264639|265652|309183|309185|309197|309208|309210|309213|309215|309219|309222|309226|309227|313903|313906|313908|313916|319783|319784|319785|319786|319787|319794|319796|319797|319807|319812|319819|319821|319822|320320|320327|320331|320332|320334|371494|415211|502732|576169|614404|620340|682355|682357|798690|798691|798692|865239|865240|865241|865242|865243|865244|865245|865246|865247|865248|865249|865250|865251|865252|865253|865254|865255|865256|865257|865258|971030", "text": "Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome" }, { - "baseId": "19665|19666|19669|34525|71365|71366|71367|140290|140291|140292|140293|140296|140297|171767|211434|211440|211441|211443|227652|227653|264446|265652|309183|309185|309197|309208|309210|309213|309215|309219|309222|309226|309227|313903|313906|313908|313916|319783|319784|319785|319786|319787|319794|319796|319797|319807|319812|319819|319821|319822|320320|320327|320331|320332|320334|371494|415211|502732|620340|626193|682322|682347|682349|682352|682354|865239|865240|865241|865242|865243|865244|865245|865246|865247|865248|865249|865250|865251|865252|865253|865254|865255|865256|865257|865258", + "upstreamId": "19665|19666|19669|34525|71365|71366|71367|140290|140291|140292|140293|140296|140297|171767|211434|211440|211441|211443|227652|227653|264446|265652|309183|309185|309197|309208|309210|309213|309215|309219|309222|309226|309227|313903|313906|313908|313916|319783|319784|319785|319786|319787|319794|319796|319797|319807|319812|319819|319821|319822|320320|320327|320331|320332|320334|371494|415211|502732|620340|626193|682322|682347|682349|682352|682354|865239|865240|865241|865242|865243|865244|865245|865246|865247|865248|865249|865250|865251|865252|865253|865254|865255|865256|865257|865258", "text": "Infantile onset spinocerebellar ataxia" }, { - "baseId": "19665|23192|23193|23194|23195|23196|23197|23198|139370|140783|140784|140785|140786|190646|195028|205238|210893|210897|210898|210901|274109|287240|287241|287251|290525|290526|290528|290536|290833|290835|481358|481359|513932|513933|549898|790295|885452|885453|885454|885455|885456|885457", + "upstreamId": "19665|23192|23193|23194|23195|23196|23197|23198|139370|140783|140784|140785|140786|190646|195028|205238|210893|210897|210898|210901|274109|287240|287241|287251|290525|290526|290528|290536|290833|290835|481358|481359|513932|513933|549898|790295|885452|885453|885454|885455|885456|885457", "text": "Mitochondrial DNA-depletion syndrome 3, hepatocerebral" }, { - "baseId": "19670|168813|168814|168815|168816|168817|168818|168820|168821|168822|168823|168824|168825|168826|168827|168828|168829|168830|168831|168832|168833|168834|168835|168836|168837|168838|168839|168840|178382|205262|205764|207734|207736|214455|214456|214458|214460|225819|309449|309450|314164|314165|314166|314184|314202|314203|314208|314224|314225|314226|320056|320063|320064|320073|320075|320077|320078|320626|320627|320631|320632|429043|429044|441360|441362|459672|459858|460102|513822|513823|513824|524925|566150|611403|614602|625872|625981|638713|701169|701170|730667|737342|790940|790941|805090|815991|836604|855081|865389|865390|865391|865392|865393|865394|865395|865396|865397|865398|865399|865400|865401|865402|865403|865404|865405|868440|868441|868442|919257|970919|970920|971295|974488", + "upstreamId": "19670|168813|168814|168815|168816|168817|168818|168820|168821|168822|168823|168824|168825|168826|168827|168828|168829|168830|168831|168832|168833|168834|168835|168836|168837|168838|168839|168840|178382|205262|205764|207734|207736|214455|214456|214458|214460|225819|309449|309450|314164|314165|314166|314184|314202|314203|314208|314224|314225|314226|320056|320063|320064|320073|320075|320077|320078|320626|320627|320631|320632|429043|429044|441360|441362|459672|459858|460102|513822|513823|513824|524925|566150|611403|614602|625872|625981|638713|701169|701170|730667|737342|790940|790941|805090|815991|836604|855081|865389|865390|865391|865392|865393|865394|865395|865396|865397|865398|865399|865400|865401|865402|865403|865404|865405|868440|868441|868442|919257|970919|970920|971295|974488", "text": "Cornelia de Lange syndrome 3" }, { - "baseId": "19671|19672|19673|136570|136571|136572|136573|136574|136575|136576|136577|136578|136579|136580|136581|136582|508823|508824|508825|509888|790720", + "upstreamId": "19671|19672|19673|136570|136571|136572|136573|136574|136575|136576|136577|136578|136579|136580|136581|136582|508823|508824|508825|509888|790720", "text": "Atrial septal defect 4" }, { - "baseId": "19674|19675|19676|19677|76648|76649|191289|192063|192941|192942|193152|207042|207043|207044|246935|250912|250913|267615|267976|272572|275510|288698|288700|288702|288703|288704|288708|288712|288714|288715|288718|288719|288723|289423|289426|289429|289437|289446|289447|289449|289452|289453|289454|292443|292446|292455|292461|292467|292468|292492|292494|292496|292498|292616|292617|292632|292636|292648|292654|292657|292664|292669|292672|292675|292680|406114|452299|518928|519076|519081|519084|562410|562429|620102|620103|630949|630950|630951|651032|691300|691301|697823|697824|708558|730185|777328|827525|827526|827527|827528|887920|887921|887922|887923|887924|887925|887927|887928|887929|887930|887931|887932|887933|887934|887935|887936|887937|887938|887939|887940|887941|887942|887943|887944|887945|887946|887947|891563|923047|923048|931758|931759|962693|962694|970492|971370", + "upstreamId": "19674|19675|19676|19677|76648|76649|191289|192063|192941|192942|193152|207042|207043|207044|246935|250912|250913|267615|267976|272572|275510|288698|288700|288702|288703|288704|288708|288712|288714|288715|288718|288719|288723|289423|289426|289429|289437|289446|289447|289449|289452|289453|289454|292443|292446|292455|292461|292467|292468|292492|292494|292496|292498|292616|292617|292632|292636|292648|292654|292657|292664|292669|292672|292675|292680|406114|452299|518928|519076|519081|519084|562410|562429|620102|620103|630949|630950|630951|651032|691300|691301|697823|697824|708558|730185|777328|827525|827526|827527|827528|887920|887921|887922|887923|887924|887925|887927|887928|887929|887930|887931|887932|887933|887934|887935|887936|887937|887938|887939|887940|887941|887942|887943|887944|887945|887946|887947|891563|923047|923048|931758|931759|962693|962694|970492|971370", "text": "Cranioectodermal dysplasia 1" }, { - "baseId": "19678|19679|227248|288087|288114|288840|288844|288853|291776|291884|291897|291903|291904|805078", + "upstreamId": "19678|19679|227248|288087|288114|288840|288844|288853|291776|291884|291897|291903|291904|805078", "text": "C syndrome" }, { - "baseId": "19680|76969|76970|76971|76972|76973|131929|131930|131931|131932|131933|131934|256775|256776|256777|256778|332655|332657|332659|332660|342843|348179|348185|348186|348192|348193|348198|349391|349394|349395|349398|349403|438851|442042|446034|469397|532702|532705|532719|532744|539085|539086|572217|572221|572222|574876|577703|584380|589810|620629|647703|647704|647705|647706|647707|653148|716180|716181|727909|756718|760754|760802|772415|786062|786063|791894|847293|847294|847295|847296|847297|847298|847299|847300|847301|847302|847303|847304|847305|847306|879970|879971|879972|879973|879974|879975|880699|880700|880701|928850|928851|928852|928853|928854|938579|938580|938581|950672|950673|950674|950675|950676|958538|958539|958540", + "upstreamId": "19680|76969|76970|76971|76972|76973|131929|131930|131931|131932|131933|131934|256775|256776|256777|256778|332655|332657|332659|332660|342843|348179|348185|348186|348192|348193|348198|349391|349394|349395|349398|349403|438851|442042|446034|469397|532702|532705|532719|532744|539085|539086|572217|572221|572222|574876|577703|584380|589810|620629|647703|647704|647705|647706|647707|653148|716180|716181|727909|756718|760754|760802|772415|786062|786063|791894|847293|847294|847295|847296|847297|847298|847299|847300|847301|847302|847303|847304|847305|847306|879970|879971|879972|879973|879974|879975|880699|880700|880701|928850|928851|928852|928853|928854|938579|938580|938581|950672|950673|950674|950675|950676|958538|958539|958540", "text": "Aicardi Goutieres syndrome 4" }, { - "baseId": "19681|19682|19683|19684|19685|19686|19687|550573", + "upstreamId": "19681|19682|19683|19684|19685|19686|19687|550573", "text": "Frontonasal dysplasia 1" }, { - "baseId": "19688", + "upstreamId": "19688", "text": "Sarcoidosis 2" }, { - "baseId": "19689|19690|19691|19692|19693|19694|19695|19696|79134|249398|249399|276502|276504|276505|276723|276724|277277|277283|277284|277286|277376|404926|427642|447139|515091|515097|515143|552033|552034|556600|556933|558114|619953|626847|626848|626849|626850|626851|626852|626853|650659|745708|745709|761220|761221|761222|774379|786966|788725|800976|818845|822750|822751|822752|822753|822754|850732|851099|862346|862347|862348|862349|862350|862351|862352|921649|921650|930042|930043|940600|941455|941456|941457|941458|941459|941460|952073|952074|952075|952076|952077|952078|952079|952080|980435", + "upstreamId": "19689|19690|19691|19692|19693|19694|19695|19696|79134|249398|249399|276502|276504|276505|276723|276724|277277|277283|277284|277286|277376|404926|427642|447139|515091|515097|515143|552033|552034|556600|556933|558114|619953|626847|626848|626849|626850|626851|626852|626853|650659|745708|745709|761220|761221|761222|774379|786966|788725|800976|818845|822750|822751|822752|822753|822754|850732|851099|862346|862347|862348|862349|862350|862351|862352|921649|921650|930042|930043|940600|941455|941456|941457|941458|941459|941460|952073|952074|952075|952076|952077|952078|952079|952080|980435", "text": "Kostmann syndrome" }, { - "baseId": "19693|19695|276504|276724|404926|427642|515097|515143|556600|556933|626848|626850|650659|745708|786966|822750|822752", + "upstreamId": "19693|19695|276504|276724|404926|427642|515097|515143|556600|556933|626848|626850|650659|745708|786966|822750|822752", "text": "Autosomal recessive severe congenital neutropenia type 3" }, { - "baseId": "19697|390732|390740", + "upstreamId": "19697|390732|390740", "text": "Charcot-Marie-Tooth disease, type 2A1" }, { - "baseId": "19698|19699|19700|19701", + "upstreamId": "19698|19699|19700|19701", "text": "Neuroblastoma 1" }, { - "baseId": 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+ "upstreamId": "19699|19700|28375|28377|28378|33122|33123|33124|33125|34719|46008|46750|49881|76578|76579|83949|134845|134846|134847|150855|165504|172465|175540|180995|193949|212065|212066|212068|212069|214506|214508|214509|214512|214513|214514|214515|215257|221072|221073|221074|226759|238113|238114|238115|238116|238117|249266|256141|275615|275616|275617|275618|275620|275643|275644|275646|275647|275648|275649|275650|275651|275652|275653|275655|275661|275671|275674|275677|275679|275680|275703|275730|275733|275736|275737|275742|275743|275746|275747|275748|275750|275751|275752|275754|275755|275756|275757|275758|275759|275760|275761|275762|275763|275764|275765|275766|275767|275768|275769|275770|275771|275772|275773|275774|275775|275776|275777|275778|275779|275780|275781|275782|275783|275784|275785|275786|275787|275788|275789|275790|275791|275792|275793|275794|275795|275799|275802|275803|275804|275805|275809|275818|275823|275831|275832|275833|275834|275841|275842|275844|275848|275854|275857|275858|275861|275862|275863|275864|275865|275869|275870|275871|275873|275881|275886|275887|275888|275894|275895|275897|275900|275902|275903|275904|275906|275909|275910|275912|275918|275926|275939|275944|275945|275946|275947|275956|275960|275961|275962|275963|293429|294855|298467|298528|353022|353023|362764|362766|362767|363179|363244|363308|363309|363337|363338|363339|363361|363362|363363|363390|363464|363465|363466|363467|363468|363591|363592|390732|432394|432400|432406|432407|432409|432412|432413|432416|432422|446991|514868|535377|535378|535379|581789|611988|612000|612008|612013|626484|683231|685506|789813|789816|789817|861756|861757|861758|861759|861760|861761|861762|861763|861783|861800|861801|861802|861803|861804|861805|861806|861807|861808|861809|861810|861811|861812|861813|861814|861815|861816|861817|861818|861819|861820|861821|861822|861823|861824|861825|861826|861827|861828|861829|861830|861831|861832|861833|861834|861835|861836|861837|861838|861839|861840|861841|861842|861843|861844|861845|861846|861847|864940|864941|864942|864945|864951|864952", "text": "Neuroblastoma" }, { - "baseId": "19702|19703|306064|310042|310044|310057|353846|734258|970654", + "upstreamId": "19702|19703|306064|310042|310044|310057|353846|734258|970654", "text": "Pyruvate dehydrogenase phosphatase deficiency" }, { - "baseId": "19704|19704|19705|19706|19707|19708|19709|19710|19711|19712|19714|22715|22716|44662|44663|134928|140776|140777|140778|191510|208008|208009|208013|237233|248737|248738|271194|271972|309807|309809|314727|314736|318850|318855|318858|318860|318861|318862|318866|318867|318871|318873|318877|318878|318879|318886|318887|320734|320739|321387|321399|321401|321403|327235|327243|327246|327249|327251|327256|327261|327265|327267|327268|333353|333354|333361|333369|333370|333378|333382|333384|333385|333386|333387|333388|333389|333398|333403|333405|333409|333416|333417|333418|333419|335099|335103|335107|335108|335112|335113|335116|335127|335129|335130|353262|371603|407833|421785|429478|459719|459727|459730|459731|459914|460187|460187|460443|460444|513304|525013|525227|525229|525232|525329|525334|525533|525533|527458|563618|563620|564410|564513|564517|564521|566107|566202|566204|566206|572195|584029|585008|589065|614347|614347|638775|638776|638777|638778|638779|638780|638781|638782|638783|638784|638785|638786|638787|638788|638789|638790|638791|638792|638793|638794|638795|638796|638797|638798|638799|638800|638801|641541|651954|651998|652095|652125|684382|692812|692813|692814|692815|695473|701266|712282|723866|730680|730681|752041|752042|752043|752044|752045|759947|767673|767674|767675|767676|775484|783566|783568|790953|790954|820197|820198|820199|836704|836705|836706|836707|836708|836709|836710|836711|836712|836713|836714|836715|836716|836717|836718|836719|836720|836721|836722|836723|836724|836725|836726|836727|851371|865636|870669|870670|870671|870672|870673|870674|870675|870676|870677|870678|870679|870680|870681|870682|870683|870684|925767|925768|925769|925770|925771|925772|925773|934986|934987|934988|934989|934990|934991|940952|946843|946844|946845|946846|956011|956012|956013|956014|956015|956016|956017|956018|956019|956020|959930|960715|960716", + "upstreamId": "19704|19704|19705|19706|19707|19708|19709|19710|19711|19712|19714|22715|22716|44662|44663|134928|140776|140777|140778|191510|208008|208009|208013|237233|248737|248738|271194|271972|309807|309809|314727|314736|318850|318855|318858|318860|318861|318862|318866|318867|318871|318873|318877|318878|318879|318886|318887|320734|320739|321387|321399|321401|321403|327235|327243|327246|327249|327251|327256|327261|327265|327267|327268|333353|333354|333361|333369|333370|333378|333382|333384|333385|333386|333387|333388|333389|333398|333403|333405|333409|333416|333417|333418|333419|335099|335103|335107|335108|335112|335113|335116|335127|335129|335130|353262|371603|407833|421785|429478|459719|459727|459730|459731|459914|460187|460187|460443|460444|513304|525013|525227|525229|525232|525329|525334|525533|525533|527458|563618|563620|564410|564513|564517|564521|566107|566202|566204|566206|572195|584029|585008|589065|614347|614347|638775|638776|638777|638778|638779|638780|638781|638782|638783|638784|638785|638786|638787|638788|638789|638790|638791|638792|638793|638794|638795|638796|638797|638798|638799|638800|638801|641541|651954|651998|652095|652125|684382|692812|692813|692814|692815|695473|701266|712282|723866|730680|730681|752041|752042|752043|752044|752045|759947|767673|767674|767675|767676|775484|783566|783568|790953|790954|820197|820198|820199|836704|836705|836706|836707|836708|836709|836710|836711|836712|836713|836714|836715|836716|836717|836718|836719|836720|836721|836722|836723|836724|836725|836726|836727|851371|865636|870669|870670|870671|870672|870673|870674|870675|870676|870677|870678|870679|870680|870681|870682|870683|870684|925767|925768|925769|925770|925771|925772|925773|934986|934987|934988|934989|934990|934991|940952|946843|946844|946845|946846|956011|956012|956013|956014|956015|956016|956017|956018|956019|956020|959930|960715|960716", "text": "Severe combined immunodeficiency due to DCLRE1C deficiency" }, { - "baseId": 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+ "upstreamId": 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"text": "Histiocytic medullary reticulosis" }, { - "baseId": "19712|321403|566204|584029|638779|767673|836712|836714", + "upstreamId": "19712|321403|566204|584029|638779|767673|836712|836714", "text": "Severe combined immunodeficiency, athabascan-type" }, { - "baseId": "19714|19715", + "upstreamId": "19714|19715", "text": "Severe combined immunodeficiency, partial" }, { - "baseId": "19717|19718|19719|19720|40574|205177|714450|903603", + "upstreamId": "19717|19718|19719|19720|40574|205177|714450|903603", "text": "Johanson-Blizzard syndrome" }, { - "baseId": 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+ "upstreamId": 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"text": "Choreoacanthocytosis" }, { - "baseId": 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+ "upstreamId": 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"text": "Inflammatory bowel disease 1" }, { - "baseId": "19730|335199|341611|341631|343103", + "upstreamId": "19730|335199|341611|341631|343103", "text": "Crohn disease" }, { - "baseId": 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"text": "Blau syndrome" }, { - "baseId": "19730|19731|19732|19736|19739|103761|103777|614427|703731|919659|980481", + "upstreamId": "19730|19731|19732|19736|19739|103761|103777|614427|703731|919659|980481", "text": "Yao syndrome" }, { - "baseId": "19736", + "upstreamId": "19736", "text": "Autoinflammatory syndrome" }, { - "baseId": "19739|27427|29419|103761|703731|980481", + "upstreamId": "19739|27427|29419|103761|703731|980481", "text": "Psoriatic arthritis, susceptibility to" }, { - "baseId": "19741|277491|364543|447235|515100|515258|515260|558138|576073|626893|626894|626895|682122|682123|818846|822782|822783|822784|862397|941488", + "upstreamId": "19741|277491|364543|447235|515100|515258|515260|558138|576073|626893|626894|626895|682122|682123|818846|822782|822783|822784|862397|941488", "text": "Congenital disorder of glycosylation type 1O" }, { - "baseId": 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+ "upstreamId": 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"text": "Microcephalic osteodysplastic primordial dwarfism type II" }, { - "baseId": 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+ "upstreamId": 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"text": "Combined immunodeficiency due to STIM1 deficiency" }, { - "baseId": "19751|143249", + "upstreamId": "19751|143249", "text": "Plasma triglyceride level quantitative trait locus" }, { - "baseId": 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+ "upstreamId": 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"text": "Megalencephalic leukoencephalopathy with subcortical cysts 1" }, { - "baseId": "19761|135059|227417|254023|254024|254025|254026|254027|254029|254030|257709|268677|313075|313076|313077|313081|313084|313085|313086|313088|313090|313099|313100|313102|313108|313109|313110|313114|319132|319134|319137|319138|319149|319150|319153|319154|319155|319160|319164|325250|325251|325263|325264|325268|325272|325282|325284|325290|325292|325293|325297|325298|326092|326098|326099|326100|326103|326109|326112|326113|326114|326125|326128|326129|326132|326140|326144|326146|348115|348135|348137|348155|348156|351818|352665|352671|539106|539107|549441|701646|706002|742985|742986|744491|752515|758133|773597|773598|773599|773604|786625|786626|786629|849396|867458|867459|867460|867461|867462|867463|867464|867465|867466|867467|867468|867469|867470|867471|867472|867473|867474|867475|867476|868615|980063|980064|980065|980066|980067", + "upstreamId": 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"text": "Congenital disorder of glycosylation" }, { - "baseId": 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"text": "Finnish congenital nephrotic syndrome" }, { - "baseId": 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+ "upstreamId": 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"text": "Myofibrillar myopathy, ZASP-related" }, { - "baseId": "19767|20032|20033|20038|20039|20040|20041|33471|33473|33474|38832|39426|39429|39430|39431|39432|39433|48018|51262|52239|55766|57196|57282|77299|77309|77750|77753|131994|132005|132007|136760|169564|173493|173633|174415|176795|178263|178281|228356|354298", + "upstreamId": "19767|20032|20033|20038|20039|20040|20041|33471|33473|33474|38832|39426|39429|39430|39431|39432|39433|48018|51262|52239|55766|57196|57282|77299|77309|77750|77753|131994|132005|132007|136760|169564|173493|173633|174415|176795|178263|178281|228356|354298", "text": "Neuromuscular disease" }, { - "baseId": "19767|20875|48065|53432|53436|77287|77297|77310|247640|361040|682327", + "upstreamId": "19767|20875|48065|53432|53436|77287|77297|77310|247640|361040|682327", "text": "Myofibrillar myopathy" }, { - "baseId": "19768|19769|19770|19771|19772|19773|19774|53044|53048|54696|54717|141809|198307|224404|311447|317039|317040|317041|317042|323019|323021|323607|415237|525526|525814|866450|866451|866452|866453|866454|866457|866458|866459|866460|866461|866462|868525|919299", + "upstreamId": "19768|19769|19770|19771|19772|19773|19774|53044|53048|54696|54717|141809|198307|224404|311447|317039|317040|317041|317042|323019|323021|323607|415237|525526|525814|866450|866451|866452|866453|866454|866457|866458|866459|866460|866461|866462|868525|919299", "text": "Dilated cardiomyopathy 1C" }, { - "baseId": "19770|54699", + "upstreamId": "19770|54699", "text": "Familial hypertrophic cardiomyopathy 24" }, { - "baseId": "19774", + "upstreamId": "19774", "text": "Left ventricular noncompaction 3" }, { - "baseId": "19775|19776|19777|196445|242852|429997|429998", + "upstreamId": "19775|19776|19777|196445|242852|429997|429998", "text": "Breast cancer, early-onset" }, { - "baseId": 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"text": "Fanconi anemia, complementation group J" }, { - "baseId": 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"text": "Neoplasm of ovary" }, { - "baseId": "19775|19777|137491|185230|236266|345292", + "upstreamId": "19775|19777|137491|185230|236266|345292", "text": "BRIP1-Related Disorders" }, { - "baseId": "19777|27086|132103|132191|133574|133601|263273|904886|904887|904888|904889|904890|904891|904892|904893|904894|904895|904896|904897|904898|904899|904900|904901|904902|904903|904904|904905|904906|904907", + "upstreamId": "19777|27086|132103|132191|133574|133601|263273|904886|904887|904888|904889|904890|904891|904892|904893|904894|904895|904896|904897|904898|904899|904900|904901|904902|904903|904904|904905|904906|904907", "text": "Tracheoesophageal fistula" }, { - "baseId": "19778|19779|101799|101800|101801|101802|153781|213609|247057|254172|314119|314120|314127|314128|314134|314135|314139|314142|314143|314145|314146|314148|314151|320664|320670|320679|320680|320682|320683|320684|320685|320688|326683|326696|326708|326714|326715|326718|326719|326725|326729|326743|326747|326748|326757|326760|327675|327679|327680|327691|327692|327696|327697|327713|327714|327715|327717|327718|327721|327723|327725|327726|372164|372386|461331|461931|503805|513601|526216|526219|526221|526399|526404|526406|526699|526702|564634|565791|570667|614359|640059|640060|640061|640062|640063|640064|640065|640066|640067|640068|737980|768456|784004|789126|820373|838439|838440|838441|838442|838443|838444|838445|838446|838447|838448|868006|868007|868008|868009|868010|868011|868012|868013|868014|868015|868016|868017|868018|926247|926248|926249|935546|935547|935548|935549|935550|947459|947460|947461|956497|956498|956499|956500", + "upstreamId": "19778|19779|101799|101800|101801|101802|153781|213609|247057|254172|314119|314120|314127|314128|314134|314135|314139|314142|314143|314145|314146|314148|314151|320664|320670|320679|320680|320682|320683|320684|320685|320688|326683|326696|326708|326714|326715|326718|326719|326725|326729|326743|326747|326748|326757|326760|327675|327679|327680|327691|327692|327696|327697|327713|327714|327715|327717|327718|327721|327723|327725|327726|372164|372386|461331|461931|503805|513601|526216|526219|526221|526399|526404|526406|526699|526702|564634|565791|570667|614359|640059|640060|640061|640062|640063|640064|640065|640066|640067|640068|737980|768456|784004|789126|820373|838439|838440|838441|838442|838443|838444|838445|838446|838447|838448|868006|868007|868008|868009|868010|868011|868012|868013|868014|868015|868016|868017|868018|926247|926248|926249|935546|935547|935548|935549|935550|947459|947460|947461|956497|956498|956499|956500", "text": "Leukocyte adhesion deficiency type II" }, { - "baseId": "19780|359719|384602|444220|622386|970874|970875|977233", + "upstreamId": "19780|359719|384602|444220|622386|970874|970875|977233", "text": "Birk-Barel syndrome" }, { - "baseId": "19781|227288|538990|710020", + "upstreamId": "19781|227288|538990|710020", "text": "Dimethylglycine dehydrogenase deficiency" }, { - "baseId": "19785|19786|590480", + "upstreamId": "19785|19786|590480", "text": "Epidermodysplasia verruciformis, susceptibility to, 2" }, { - "baseId": "19787|19788|19789|19790|467383|467600|468423|468434|468888|469184|531860|531867|531875|531906|531959|531964|531974|531985|532237|532241|532268|569795|569797|569799|569801|569805|569816|571686|571687|572350|572362|574645|574647|574648|574649|574651|574654|614446|614447|614448|614449|646788|646789|646790|646791|646792|646793|646794|646795|646796|646797|646798|646800|646801|646802|646803|646804|646806|646808|646810|646811|646812|646814|646816|646821|646822|646823|646825|646826|646827|646828|646830|653047|653532|816343|980486", + "upstreamId": "19787|19788|19789|19790|467383|467600|468423|468434|468888|469184|531860|531867|531875|531906|531959|531964|531974|531985|532237|532241|532268|569795|569797|569799|569801|569805|569816|571686|571687|572350|572362|574645|574647|574648|574649|574651|574654|614446|614447|614448|614449|646788|646789|646790|646791|646792|646793|646794|646795|646796|646797|646798|646800|646801|646802|646803|646804|646806|646808|646810|646811|646812|646814|646816|646821|646822|646823|646825|646826|646827|646828|646830|653047|653532|816343|980486", "text": "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1" }, { - "baseId": "19791|788930", + "upstreamId": "19791|788930", "text": "Striatonigral degeneration infantile" }, { - "baseId": "19792|39481|141953|141954|141955|210941|210943|210945|210947|210948|289682|289688|292634|292637|292639|292875|292881|620110|759371|888052|888053|891576", + "upstreamId": "19792|39481|141953|141954|141955|210941|210943|210945|210947|210948|289682|289688|292634|292637|292639|292875|292881|620110|759371|888052|888053|891576", "text": "Combined oxidative phosphorylation deficiency 5" }, { - "baseId": "19793|19794|19795|19796|19797|19798|19799|19800|19801|19802|19803|19804|19805|19806|19807|71449|71450|101516|101517|101519|101520|101523|101525|101527|101528|101529|101530|101531|101533|101534|101535|101536|101537|101540|101541|141645|141646|141647|141649|141650|141651|141652|141653|141655|141657|141659|168021|168022|168023|168024|168025|168026|168029|168031|168032|168033|168034|168035|168036|176934|177065|177329|178161|178387|178960|178962|178965|178968|178969|178970|178975|178979|178980|178981|178982|178987|178988|178990|178991|178993|178994|178996|178998|179004|179005|179007|179008|179010|179011|179012|179013|187148|187149|187150|187151|187152|187153|187154|187155|187156|187157|187158|187159|187160|187161|187162|187163|187164|187165|187166|187167|187168|187169|187170|187171|187172|187173|190877|193629|196021|196023|206846|206847|206848|206849|206850|206852|213524|213525|243902|265870|265872|271504|281933|281934|281938|281946|281948|281976|281977|281983|281984|282545|282557|282563|282607|282609|282627|284214|284224|284268|284272|284291|284496|284510|359383|361508|364137|365376|365386|365543|365545|365553|365558|365562|365568|365576|365581|365583|365590|365757|365759|365771|391349|391416|391419|391602|391604|405296|424640|424988|427883|427885|427887|427889|427893|427895|442547|442923|448525|448695|448699|448703|448705|448706|448708|448710|448712|448713|448714|448717|448718|448726|448735|448789|448792|448797|488152|498650|498654|498656|498659|498875|498911|516342|516344|516345|516355|516411|516418|516420|516423|516426|516428|516436|516437|516446|516454|516456|537690|537691|537692|537693|537694|537695|550349|552050|552051|557514|557516|557518|557520|557522|557524|557526|557563|557565|557567|558719|558721|558723|558725|558727|558729|559206|559208|559210|559212|578917|578959|610477|628448|628449|628450|628451|628452|628453|628454|628455|628456|628457|628458|628459|628460|628461|655141|679737|679738|683392|685839|685840|685841|685842|690743|690744|719275|746783|762196|762197|788742|790046|790047|790048|790049|790050|798481|798482|798483|821843|821844|821845|821846|821847|821848|821849|821850|824759|824760|824761|824762|824763|824764|824765|824766|824767|824768|824769|824770|824771|824772|824773|824774|824775|824776|824777|824778|857644|922239|922240|922241|922242|922243|922244|922245|922246|922247|930800|930801|930802|930803|930804|930805|930806|930807|940654|942230|942231|942232|942233|942234|942235|942236|942237|942238|952632|952633|961589|961590|962877|962915|963122|963498|964019|964164|965956|970709|970710|970711|972781", + "upstreamId": "19793|19794|19795|19796|19797|19798|19799|19800|19801|19802|19803|19804|19805|19806|19807|71449|71450|101516|101517|101519|101520|101523|101525|101527|101528|101529|101530|101531|101533|101534|101535|101536|101537|101540|101541|141645|141646|141647|141649|141650|141651|141652|141653|141655|141657|141659|168021|168022|168023|168024|168025|168026|168029|168031|168032|168033|168034|168035|168036|176934|177065|177329|178161|178387|178960|178962|178965|178968|178969|178970|178975|178979|178980|178981|178982|178987|178988|178990|178991|178993|178994|178996|178998|179004|179005|179007|179008|179010|179011|179012|179013|187148|187149|187150|187151|187152|187153|187154|187155|187156|187157|187158|187159|187160|187161|187162|187163|187164|187165|187166|187167|187168|187169|187170|187171|187172|187173|190877|193629|196021|196023|206846|206847|206848|206849|206850|206852|213524|213525|243902|265870|265872|271504|281933|281934|281938|281946|281948|281976|281977|281983|281984|282545|282557|282563|282607|282609|282627|284214|284224|284268|284272|284291|284496|284510|359383|361508|364137|365376|365386|365543|365545|365553|365558|365562|365568|365576|365581|365583|365590|365757|365759|365771|391349|391416|391419|391602|391604|405296|424640|424988|427883|427885|427887|427889|427893|427895|442547|442923|448525|448695|448699|448703|448705|448706|448708|448710|448712|448713|448714|448717|448718|448726|448735|448789|448792|448797|488152|498650|498654|498656|498659|498875|498911|516342|516344|516345|516355|516411|516418|516420|516423|516426|516428|516436|516437|516446|516454|516456|537690|537691|537692|537693|537694|537695|550349|552050|552051|557514|557516|557518|557520|557522|557524|557526|557563|557565|557567|558719|558721|558723|558725|558727|558729|559206|559208|559210|559212|578917|578959|610477|628448|628449|628450|628451|628452|628453|628454|628455|628456|628457|628458|628459|628460|628461|655141|679737|679738|683392|685839|685840|685841|685842|690743|690744|719275|746783|762196|762197|788742|790046|790047|790048|790049|790050|798481|798482|798483|821843|821844|821845|821846|821847|821848|821849|821850|824759|824760|824761|824762|824763|824764|824765|824766|824767|824768|824769|824770|824771|824772|824773|824774|824775|824776|824777|824778|857644|922239|922240|922241|922242|922243|922244|922245|922246|922247|930800|930801|930802|930803|930804|930805|930806|930807|940654|942230|942231|942232|942233|942234|942235|942236|942237|942238|952632|952633|961589|961590|962877|962915|963122|963498|964019|964164|965956|970709|970710|970711|972781", "text": "Mowat-Wilson syndrome" }, { - "baseId": "19803", + "upstreamId": "19803", "text": "Hirschsprung disease-mental retardation syndrome, late infantile" }, { - "baseId": "19809|71388|71390|861253|861254|861255|861256", + "upstreamId": "19809|71388|71390|861253|861254|861255|861256", "text": "Imerslund-Gr\u00e4sbeck syndrome 2" }, { - "baseId": "19811", + "upstreamId": "19811", "text": "Hypercarotenemia and vitamin a deficiency, autosomal dominant" }, { - "baseId": "19812|19813|19814|19815|19816|19818|19819|19820|238266|280214|280218|280219|280224|280227|280228|280234|280246|280247|280252|280254|280255|280257|280262|280592|280593|280594|280598|280602|280603|280604|280615|280619|280622|280628|280630|280636|280651|280653|280655|280658|280659|280660|280662|281904|281906|281907|281910|281912|281917|281918|281928|281930|281931|281932|281939|281947|281949|281951|282027|282029|282033|282034|282036|282039|391148|391155|391160|447723|447740|447958|448053|448079|510999|511000|515755|515813|515853|515883|557013|557240|557279|558469|627720|627721|627722|627723|627724|627725|672380|683319|685696|685697|685698|685699|685700|685701|685702|689656|690577|780652|780655|780657|794651|818959|823847|823848|850769|864208|864209|864210|864211|864212|864213|864214|864215|864216|864217|864218|864219|864220|864221|864222|864223|864224|864225|864226|864227|864228|864229|864230|864231|865171|865172|921976|921977|921978|921979|930448|930449|930450|930451|952377|952378|952379|960427", + "upstreamId": "19812|19813|19814|19815|19816|19818|19819|19820|238266|280214|280218|280219|280224|280227|280228|280234|280246|280247|280252|280254|280255|280257|280262|280592|280593|280594|280598|280602|280603|280604|280615|280619|280622|280628|280630|280636|280651|280653|280655|280658|280659|280660|280662|281904|281906|281907|281910|281912|281917|281918|281928|281930|281931|281932|281939|281947|281949|281951|282027|282029|282033|282034|282036|282039|391148|391155|391160|447723|447740|447958|448053|448079|510999|511000|515755|515813|515853|515883|557013|557240|557279|558469|627720|627721|627722|627723|627724|627725|672380|683319|685696|685697|685698|685699|685700|685701|685702|689656|690577|780652|780655|780657|794651|818959|823847|823848|850769|864208|864209|864210|864211|864212|864213|864214|864215|864216|864217|864218|864219|864220|864221|864222|864223|864224|864225|864226|864227|864228|864229|864230|864231|865171|865172|921976|921977|921978|921979|930448|930449|930450|930451|952377|952378|952379|960427", "text": "Familial hypercholesterolemia 4" }, { - "baseId": "19821|169750|413614|442344|553158|583132", + "upstreamId": "19821|169750|413614|442344|553158|583132", "text": "Polymicrogyria with optic nerve hypoplasia" }, { - "baseId": "19822|19823|19824|19825|190625|328628|328629|338578|338590|338591|338592|344653|344658|344659|344662|346073|346076|346081|771560|877645|877646|877647|877648|877649|877650|877651|877652|877653|877654|877655|877656|877657|877658|877659|877660|877661|877662|877663|877664|877665|877666", + "upstreamId": "19822|19823|19824|19825|190625|328628|328629|338578|338590|338591|338592|344653|344658|344659|344662|346073|346076|346081|771560|877645|877646|877647|877648|877649|877650|877651|877652|877653|877654|877655|877656|877657|877658|877659|877660|877661|877662|877663|877664|877665|877666", "text": "Sclerosteosis 1" }, { - "baseId": "19826|19827|19828|19829|19832|23469|23483|23485|29229", + "upstreamId": "19826|19827|19828|19829|19832|23469|23483|23485|29229", "text": "Autosomal recessive Dejerine-Sottas syndrome" }, { - "baseId": "19826|19830|19831|19833|47011|47012|47013|135494|135495|135496|135497|135498|135499|142520|205189|213453|213454|213456|213458|213459|213461|222808|222809|243334|243338|243339|243340|243342|245126|245128|245130|245131|245133|245135|245136|245136|245141|268889|333516|333520|333524|333534|333535|333539|333540|333547|333552|333554|333557|333558|333559|333570|343605|343607|343612|343613|343615|343617|343619|343624|343628|343630|348901|348903|348907|348913|348916|348917|348922|348924|348928|348932|348939|348940|348944|349843|349844|349847|349849|349854|349855|349858|349859|349862|349863|349866|349867|349869|349874|349875|349876|376503|377643|379572|379575|403251|403713|403719|403722|403724|468804|469824|469837|470233|470893|470912|533481|533506|538486|538486|540469|573114|577807|622460|622461|625426|625428|625437|648121|684811|689056|689058|694417|788927|798922|847688|847704|882038|882039|882040|882041|882042|882043|882044|882045|882046|882047|882048|882049|882050|882051|882052|882053|882054|882055|882056|882057|882058|882889|882890|905438|919867", + "upstreamId": "19826|19830|19831|19833|47011|47012|47013|135494|135495|135496|135497|135498|135499|142520|205189|213453|213454|213456|213458|213459|213461|222808|222809|243334|243338|243339|243340|243342|245126|245128|245130|245131|245133|245135|245136|245136|245141|268889|333516|333520|333524|333534|333535|333539|333540|333547|333552|333554|333557|333558|333559|333570|343605|343607|343612|343613|343615|343617|343619|343624|343628|343630|348901|348903|348907|348913|348916|348917|348922|348924|348928|348932|348939|348940|348944|349843|349844|349847|349849|349854|349855|349858|349859|349862|349863|349866|349867|349869|349874|349875|349876|376503|377643|379572|379575|403251|403713|403719|403722|403724|468804|469824|469837|470233|470893|470912|533481|533506|538486|538486|540469|573114|577807|622460|622461|625426|625428|625437|648121|684811|689056|689058|694417|788927|798922|847688|847704|882038|882039|882040|882041|882042|882043|882044|882045|882046|882047|882048|882049|882050|882051|882052|882053|882054|882055|882056|882057|882058|882889|882890|905438|919867", "text": "Charcot-Marie-Tooth disease, demyelinating, type 4F" }, { - "baseId": "19833|23473|25490|29208|29209|31791|47013|49436|222886|231988|245013|245128|245136|245137|426772|427125|440400|442658|481416|538486|539028|557010|622460|625000|625001|625014|625026|625039|625040|625057|625073|625088|625381|625382|625387|625388|625389|625390|625392|625393|625394|625395|625405|625423|625544|626198", + "upstreamId": "19833|23473|25490|29208|29209|31791|47013|49436|222886|231988|245013|245128|245136|245137|426772|427125|440400|442658|481416|538486|539028|557010|622460|625000|625001|625014|625026|625039|625040|625057|625073|625088|625381|625382|625387|625388|625389|625390|625392|625393|625394|625395|625405|625423|625544|626198", "text": "Dejerine-Sottas disease" }, { - "baseId": "19836|19837", + "upstreamId": "19836|19837", "text": "NEUROPATHY, HEREDITARY SENSORY, TYPE IC" }, { - "baseId": "19836|204570|244921|271912|321515|321521|321526|321530|321531|321535|321536|321542|321544|321545|321547|321551|321552|321560|321561|321578|321582|321584|321585|321587|321592|321596|321604|321608|321609|321611|321619|321620|321624|321626|330808|330810|330814|330817|330818|330820|330822|330826|330834|330836|330839|330841|330844|330853|330855|330860|330862|330866|330867|330869|330870|330875|330876|330880|330884|330886|330888|337450|337453|337459|337465|337472|337474|337475|337477|337479|337482|337483|337485|337487|337489|337490|337495|337500|337504|337505|337506|337508|337512|337518|337519|337525|337533|337534|337539|339488|339500|339501|339503|339504|339505|339507|339524|339527|339528|339531|339533|339543|339545|339551|339562|339563|339565|339567|339569|339573|339576|339579|339587|339590|339592|339594|339595|339597|339602|339607|339608|339612|339617|373221|373222|373925|374378|376236|376240|376258|421996|433943|445258|463538|463539|463541|463546|463548|464154|464158|464412|464534|464539|464544|464550|464556|464562|464565|504643|504872|505137|505561|513624|528318|528325|528389|528393|528401|528403|528784|528786|528791|528793|528797|566669|566672|566673|568326|569052|569057|572948|572958|572961|609900|625308|642756|642757|642758|642759|642760|642761|642762|642763|642764|642765|642766|642767|642768|642769|652426|652476|652562|652893|656267|702999|725840|820651|820652|841857|841858|841859|841860|841861|841862|841863|841864|841865|841866|841867|841868|841869|841870|841871|852017|872752|872753|872754|872755|872756|872757|872758|872759|872760|872761|872762|872763|872764|872765|872766|872767|872768|872769|872770|872771|872772|872773|872774|872775|872776|872777|872778|872779|872780|872781|872782|872783|872784|872785|872786|872787|872788|872789|872790|872791|872792|872793|876458|919546|927188|927189|936755|941070|948708|948709|948710|957324|957325|981884", + "upstreamId": "19836|204570|244921|271912|321515|321521|321526|321530|321531|321535|321536|321542|321544|321545|321547|321551|321552|321560|321561|321578|321582|321584|321585|321587|321592|321596|321604|321608|321609|321611|321619|321620|321624|321626|330808|330810|330814|330817|330818|330820|330822|330826|330834|330836|330839|330841|330844|330853|330855|330860|330862|330866|330867|330869|330870|330875|330876|330880|330884|330886|330888|337450|337453|337459|337465|337472|337474|337475|337477|337479|337482|337483|337485|337487|337489|337490|337495|337500|337504|337505|337506|337508|337512|337518|337519|337525|337533|337534|337539|339488|339500|339501|339503|339504|339505|339507|339524|339527|339528|339531|339533|339543|339545|339551|339562|339563|339565|339567|339569|339573|339576|339579|339587|339590|339592|339594|339595|339597|339602|339607|339608|339612|339617|373221|373222|373925|374378|376236|376240|376258|421996|433943|445258|463538|463539|463541|463546|463548|464154|464158|464412|464534|464539|464544|464550|464556|464562|464565|504643|504872|505137|505561|513624|528318|528325|528389|528393|528401|528403|528784|528786|528791|528793|528797|566669|566672|566673|568326|569052|569057|572948|572958|572961|609900|625308|642756|642757|642758|642759|642760|642761|642762|642763|642764|642765|642766|642767|642768|642769|652426|652476|652562|652893|656267|702999|725840|820651|820652|841857|841858|841859|841860|841861|841862|841863|841864|841865|841866|841867|841868|841869|841870|841871|852017|872752|872753|872754|872755|872756|872757|872758|872759|872760|872761|872762|872763|872764|872765|872766|872767|872768|872769|872770|872771|872772|872773|872774|872775|872776|872777|872778|872779|872780|872781|872782|872783|872784|872785|872786|872787|872788|872789|872790|872791|872792|872793|876458|919546|927188|927189|936755|941070|948708|948709|948710|957324|957325|981884", "text": "Hereditary sensory and autonomic neuropathy type IC" }, { - "baseId": "19838", + "upstreamId": "19838", "text": "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC, SEVERE" }, { - "baseId": "19839|19840|19841|19842|143025|194439|205763|231722|244554|271540|308911|313601|319383|319389|319967|319969|319970|319975|359759|370961|373125|415204|415205|444531|459274|459599|459600|459678|459680|460164|460167|460170|503202|524674|524680|524687|524919|524920|525020|525025|525201|525206|525208|525212|563305|563306|563310|563314|563316|564115|564118|565976|565980|565984|565986|569171|638394|638395|638396|638397|638398|638399|638400|652226|664449|692700|692701|692702|692703|695451|701085|737235|767508|777783|820169|836285|836286|836287|836288|836289|836290|836291|836292|836293|836294|836295|836296|836297|836298|836299|851353|852528|902510|925635|925636|934828|940942|946681|946682|946683|946684|955900|959923", + "upstreamId": "19839|19840|19841|19842|143025|194439|205763|231722|244554|271540|308911|313601|319383|319389|319967|319969|319970|319975|359759|370961|373125|415204|415205|444531|459274|459599|459600|459678|459680|460164|460167|460170|503202|524674|524680|524687|524919|524920|525020|525025|525201|525206|525208|525212|563305|563306|563310|563314|563316|564115|564118|565976|565980|565984|565986|569171|638394|638395|638396|638397|638398|638399|638400|652226|664449|692700|692701|692702|692703|695451|701085|737235|767508|777783|820169|836285|836286|836287|836288|836289|836290|836291|836292|836293|836294|836295|836296|836297|836298|836299|851353|852528|902510|925635|925636|934828|940942|946681|946682|946683|946684|955900|959923", "text": "Hereditary sensory and autonomic neuropathy type 1" }, { - "baseId": "19839|19840|19841|19842|19844|143024|143025|194439|271540|308901|308902|308904|308908|308910|308911|313574|313578|313579|313580|313582|313590|313591|313601|313607|319360|319362|319363|319370|319372|319383|319389|319963|319965|319967|319969|319970|319975|373125|444531|444532|459680|524687|525020|525206|563314|565984|790918|799595|799596|836287|852528|902504|902505|902506|902507|902508|902509|902510|902511|902512", + "upstreamId": "19839|19840|19841|19842|19844|143024|143025|194439|271540|308901|308902|308904|308908|308910|308911|313574|313578|313579|313580|313582|313590|313591|313601|313607|319360|319362|319363|319370|319372|319383|319389|319963|319965|319967|319969|319970|319975|373125|444531|444532|459680|524687|525020|525206|563314|565984|790918|799595|799596|836287|852528|902504|902505|902506|902507|902508|902509|902510|902511|902512", "text": "Neuropathy, hereditary sensory and autonomic, type 1A" }, { - "baseId": "19842|32213|51184|245116|360806|613539", + "upstreamId": "19842|32213|51184|245116|360806|613539", "text": "Sensorimotor neuropathy" }, { - "baseId": "19843|359759", + "upstreamId": "19843|359759", "text": "Neuropathy, hereditary sensory and autonomic, type IA, severe" }, { - "baseId": "19845|19845|39467|188966|257379|257379|335926|335929|335932|335935|335939|335940|335941|335943|335948|335951|335960|335961|335967|335968|335980|335983|335987|335988|335992|336001|345625|345637|345654|345656|345658|345660|345665|345671|345673|345678|345680|345692|345693|345695|345698|345699|345704|345705|345707|345712|345714|345716|345718|345724|345731|345732|345734|345742|345749|350177|350180|350182|350184|350186|350187|350187|350190|350190|350193|350194|350197|350200|350204|350207|350208|350210|350211|350212|350214|350215|350221|350223|350224|350228|350229|350231|351244|351246|351249|351250|351256|351259|351262|351263|351266|351267|351270|351272|351275|351276|351278|351281|351283|442304|442305|442305|470472|470472|470961|471454|471454|471456|471456|533583|533585|533631|533643|533643|533650|533651|534171|571320|572940|572941|573579|575121|648778|648779|648780|648781|653639|694572|694573|705569|780056|821335|848482|848483|848484|848485|848486|886346|886347|886348|886349|886350|886351|886352|886353|886354|886355|886356|886357|886358|886359|886360|886361|886362|886363|886364|886365|886366|886367|886368|886369|886370|886371|886372|886373|886374|886375|886376|886377|886378|886379|886380|886381|886382|886383|886384|886385|886386|886387|886388|886389|886390|886391|886392|886393|886394|886395|886396|886397|886398|886399|886400|886401|887477|887478|929224|929225", + "upstreamId": "19845|19845|39467|188966|257379|257379|335926|335929|335932|335935|335939|335940|335941|335943|335948|335951|335960|335961|335967|335968|335980|335983|335987|335988|335992|336001|345625|345637|345654|345656|345658|345660|345665|345671|345673|345678|345680|345692|345693|345695|345698|345699|345704|345705|345707|345712|345714|345716|345718|345724|345731|345732|345734|345742|345749|350177|350180|350182|350184|350186|350187|350187|350190|350190|350193|350194|350197|350200|350204|350207|350208|350210|350211|350212|350214|350215|350221|350223|350224|350228|350229|350231|351244|351246|351249|351250|351256|351259|351262|351263|351266|351267|351270|351272|351275|351276|351278|351281|351283|442304|442305|442305|470472|470472|470961|471454|471454|471456|471456|533583|533585|533631|533643|533643|533650|533651|534171|571320|572940|572941|573579|575121|648778|648779|648780|648781|653639|694572|694573|705569|780056|821335|848482|848483|848484|848485|848486|886346|886347|886348|886349|886350|886351|886352|886353|886354|886355|886356|886357|886358|886359|886360|886361|886362|886363|886364|886365|886366|886367|886368|886369|886370|886371|886372|886373|886374|886375|886376|886377|886378|886379|886380|886381|886382|886383|886384|886385|886386|886387|886388|886389|886390|886391|886392|886393|886394|886395|886396|886397|886398|886399|886400|886401|887477|887478|929224|929225", "text": "Amyotrophic lateral sclerosis type 8" }, { - "baseId": "19845|19845|188966|257379|345654|350187|350190|442304|442305|470472|470961|471454|471456|533583|533585|533631|533643|533650|533651|534171|571320|572940|572941|573579|575121|648778|648779|648780|648781|653639|694572|694573|705569|780056|821335|848482|848483|848484|848485|848486|929224|929225", + "upstreamId": "19845|19845|188966|257379|345654|350187|350190|442304|442305|470472|470961|471454|471456|533583|533585|533631|533643|533650|533651|534171|571320|572940|572941|573579|575121|648778|648779|648780|648781|653639|694572|694573|705569|780056|821335|848482|848483|848484|848485|848486|929224|929225", "text": "Spinal muscular atrophy, late-onset, finkel type" }, { - "baseId": "19845", + "upstreamId": "19845", "text": "Amyotrophic lateral sclerosis, typical" }, { - "baseId": "19846", + "upstreamId": "19846", "text": "Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1, susceptibility to" }, { - "baseId": "19846|205777|264787|861326|861327|861346|861347|861364|861413", + "upstreamId": "19846|205777|264787|861326|861327|861346|861347|861364|861413", "text": "Juvenile amyotrophic lateral sclerosis" }, { - "baseId": "19847|19848|19849|19850|192436|227415|337905|337906|337907|337910|337913|347516|347518|347519|347522|347523|351419|351420|351423|351426|351428|352419|352420|352421|352426|352433|352434|438226|481385|508941|534312|588966|620686|620687|649454|649455|649456|649457|649458|649459|694717|694718|705903|849298|891135|891136|891137|891138|891139|891140|891141|891142|891143|891144|891145|891146|891147|891148|891820|939300|951458|951459|951460|959085|959086", + "upstreamId": "19847|19848|19849|19850|192436|227415|337905|337906|337907|337910|337913|347516|347518|347519|347522|347523|351419|351420|351423|351426|351428|352419|352420|352421|352426|352433|352434|438226|481385|508941|534312|588966|620686|620687|649454|649455|649456|649457|649458|649459|694717|694718|705903|849298|891135|891136|891137|891138|891139|891140|891141|891142|891143|891144|891145|891146|891147|891148|891820|939300|951458|951459|951460|959085|959086", "text": "Parkinson disease 15" }, { - "baseId": "19851|19852|19853|19855|19856|19856|19857|19857|19858|19858|19859|19860|19860|19864|19865|19867|19868|19869|19869|19870|19871|19872|19873|19874|19874|19875|19877|19878|19879|19879|19881|19881|23489|38434|52654|52655|52656|52656|52657|52659|52661|52662|52664|52665|52666|52668|52668|52669|52670|52671|52673|52674|52675|52677|52678|52679|52680|52682|52684|52685|52686|52687|52688|52690|52691|52693|52694|52694|52695|52696|52697|52698|52699|52700|52701|52702|52704|52707|52708|52709|52710|52712|52713|52714|52715|52715|52716|52719|52720|52722|52724|52726|52727|52728|52729|52732|52733|52734|52734|52735|52737|52738|52739|52740|52742|52743|102920|174024|174027|174031|174032|174033|174034|174158|174159|174162|174165|174167|186722|186723|186724|186725|186726|186727|186728|186729|186730|186731|186732|186733|186733|186734|186735|186736|186737|186738|186739|186740|186741|186742|196183|201049|201055|227307|229532|229533|229534|229537|229539|229541|229543|229545|229545|252559|267149|272115|276776|276786|277042|277056|277061|277062|277618|277644|277648|277682|277773|301409|301412|301413|301414|301427|301428|301429|301436|301439|302958|304625|304626|304627|304628|304629|304633|304659|304660|304662|304663|304664|304680|304684|309254|309262|309273|309281|309287|309294|309295|309297|309304|309451|309452|309453|309457|309458|309459|309464|309466|357526|357527|357528|357529|357530|357531|357532|357533|357534|357535|357536|357537|357538|357539|357540|357541|357542|357543|357544|357545|357546|357547|357548|357549|357550|357551|357552|357553|357554|368833|369418|389226|389229|421612|438847|439903|439905|439906|442645|493530|496881|496919|496920|515169|544002|544004|544005|544006|544009|544015|544031|544032|544034|544036|544039|544042|544045|544048|544050|544051|544053|544054|544067|544072|544077|544080|544086|544087|544090|544095|544096|544101|544283|544285|544290|544299|544301|544308|544310|544311|544312|544316|544324|544325|544334|544335|544337|544338|544339|544340|544343|544345|544346|544348|544351|544352|544359|544360|544361|544366|544368|544369|544370|544373|544375|544376|544377|544379|544380|544382|544385|544386|544391|544393|544395|544400|544402|544406|544409|544412|544415|544422|544424|544425|544427|544433|544434|544435|544442|544442|544448|544449|544452|544453|544456|544458|584003|615803|654475|679201|722230|730452|750330|765973|765977|765978|765979|782722|787521|801644|801645|816404|832780|897176|897177|897178|897179|897180|897181|897182|897183|897184|897185|897186|897187|897188|897189|897190|897191|897192|897193|897194|897195|897196|897197|897198|897199|897200|897201|897202|897203|897204|897205|897206|897207|897208|897209|897210|897211|897212|897213|900297|900298|970056|978378|978379|978380|978381", + "upstreamId": "19851|19852|19853|19855|19856|19856|19857|19857|19858|19858|19859|19860|19860|19864|19865|19867|19868|19869|19869|19870|19871|19872|19873|19874|19874|19875|19877|19878|19879|19879|19881|19881|23489|38434|52654|52655|52656|52656|52657|52659|52661|52662|52664|52665|52666|52668|52668|52669|52670|52671|52673|52674|52675|52677|52678|52679|52680|52682|52684|52685|52686|52687|52688|52690|52691|52693|52694|52694|52695|52696|52697|52698|52699|52700|52701|52702|52704|52707|52708|52709|52710|52712|52713|52714|52715|52715|52716|52719|52720|52722|52724|52726|52727|52728|52729|52732|52733|52734|52734|52735|52737|52738|52739|52740|52742|52743|102920|174024|174027|174031|174032|174033|174034|174158|174159|174162|174165|174167|186722|186723|186724|186725|186726|186727|186728|186729|186730|186731|186732|186733|186733|186734|186735|186736|186737|186738|186739|186740|186741|186742|196183|201049|201055|227307|229532|229533|229534|229537|229539|229541|229543|229545|229545|252559|267149|272115|276776|276786|277042|277056|277061|277062|277618|277644|277648|277682|277773|301409|301412|301413|301414|301427|301428|301429|301436|301439|302958|304625|304626|304627|304628|304629|304633|304659|304660|304662|304663|304664|304680|304684|309254|309262|309273|309281|309287|309294|309295|309297|309304|309451|309452|309453|309457|309458|309459|309464|309466|357526|357527|357528|357529|357530|357531|357532|357533|357534|357535|357536|357537|357538|357539|357540|357541|357542|357543|357544|357545|357546|357547|357548|357549|357550|357551|357552|357553|357554|368833|369418|389226|389229|421612|438847|439903|439905|439906|442645|493530|496881|496919|496920|515169|544002|544004|544005|544006|544009|544015|544031|544032|544034|544036|544039|544042|544045|544048|544050|544051|544053|544054|544067|544072|544077|544080|544086|544087|544090|544095|544096|544101|544283|544285|544290|544299|544301|544308|544310|544311|544312|544316|544324|544325|544334|544335|544337|544338|544339|544340|544343|544345|544346|544348|544351|544352|544359|544360|544361|544366|544368|544369|544370|544373|544375|544376|544377|544379|544380|544382|544385|544386|544391|544393|544395|544400|544402|544406|544409|544412|544415|544422|544424|544425|544427|544433|544434|544435|544442|544442|544448|544449|544452|544453|544456|544458|584003|615803|654475|679201|722230|730452|750330|765973|765977|765978|765979|782722|787521|801644|801645|816404|832780|897176|897177|897178|897179|897180|897181|897182|897183|897184|897185|897186|897187|897188|897189|897190|897191|897192|897193|897194|897195|897196|897197|897198|897199|897200|897201|897202|897203|897204|897205|897206|897207|897208|897209|897210|897211|897212|897213|900297|900298|970056|978378|978379|978380|978381", "text": "Pendred syndrome" }, { - "baseId": 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+ "upstreamId": "19854|19855|19856|19856|19857|19857|19858|19858|19859|19860|19860|19861|19862|19863|19864|19865|19868|19869|19869|19873|19874|19877|19878|19879|19879|19880|19881|19881|22508|22509|23488|23489|38434|52654|52655|52656|52657|52659|52661|52662|52664|52666|52668|52668|52677|52679|52684|52685|52688|52693|52694|52694|52695|52696|52698|52701|52702|52707|52713|52714|52715|52715|52716|52724|52726|52727|52731|52734|52735|52742|52743|102920|134763|134764|137037|137038|141684|141685|174031|174032|174158|174159|186726|186727|186731|186733|186733|186734|186735|186737|186740|186741|192326|192326|192437|196183|201049|201049|201052|201055|201055|201057|201057|201062|227307|229532|229541|229545|238152|251840|266314|269636|270984|271776|274298|276764|276765|276766|276771|276772|276775|276777|276778|276779|276780|276787|276788|277031|277033|277034|277037|277043|277044|277057|277064|277070|277071|277073|277614|277615|277617|277626|277643|277669|277676|277681|277683|277684|277687|277768|277769|277772|277774|277775|277778|277779|277782|296819|296820|296823|298748|298759|298761|298762|298764|298766|298781|298785|298790|301409|301412|301413|301414|301427|301428|301429|301436|302959|302975|302985|302988|303131|303132|303135|303136|303137|303144|304625|304626|304627|304628|304633|304659|304660|304662|304663|304664|304680|304684|309254|309262|309273|309281|309287|309294|309295|309297|309304|309451|309452|309453|309457|309458|309459|309464|357529|357534|357535|357540|357553|364563|364622|369418|389229|404601|433920|439899|439900|439901|439902|439903|439904|439905|439906|439907|439908|439909|439910|442645|489073|491207|515169|544005|544101|544308|544316|544369|544375|544380|544382|544391|544442|584003|615796|615797|615798|615799|615800|615801|615802|615803|654475|679192|679193|679194|679195|679196|679197|679198|679199|679200|679202|679203|679204|699015|722230|749419|765977|801644|862502|862503|862504|862505|862506|862507|862508|862509|862510|862511|862512|862513|862514|862515|862516|862517|862518|862519|862520|862521|862522|862523|862524|862525|862526|862527|862528|862529|862530|862531|862532|862533|862534|862535|893858|893859|893860|893861|893862|893863|893864|893865|893866|893867|893868|893869|893870|893871|893872|893873|893874|893875|893876|897176|897177|897178|897179|897180|897181|897182|897183|897184|897185|897186|897187|897188|897189|897190|897191|897192|897193|897194|897195|897196|897197|897198|897199|897200|897201|897202|897203|897204|897205|897206|897207|897208|897209|897210|897211|897212|897213|900297|900298", "text": "Deafness, autosomal recessive 4, with enlarged vestibular aqueduct" }, { - "baseId": "19856|19857|19858|19859|19860|19864|19874|19877|19878|19881|52665|186731|229545|620796|975897", + "upstreamId": "19856|19857|19858|19859|19860|19864|19874|19877|19878|19881|52665|186731|229545|620796|975897", "text": "SLC26A4-Related Disorders" }, { - "baseId": "19878|21885|23308|29165|29190|45263|45357|45358|52071|52182|52997|54849|54851|54852|54853|54854|54857|54862|54864|54867|54871|54874|54875|54876|54878|54882|54882|54886|54888|54892|54898|67638|67758|77939|78562|99385|174047|177380|179122|179133|188550|188574|188722|189798|196689|196972|198498|224349|224519|225032|229564|252655|266688|281616|302196|302212|302215|302216|302224|305396|305405|305406|305426|305434|305440|305443|305444|305445|305447|310221|310227|310228|310229|310234|310323|310325|310327|310328|310329|310346|310347|310357|360891|369358|405107|424509|431889|456504|456900|457546|457592|471375|480667|480668|480669|480670|480671|480672|480673|480674|480675|480676|480677|480678|480679|480680|480681|480682|480683|480684|480685|480686|480687|480688|480689|480690|480691|480692|480693|480694|480695|480696|480697|480698|480699|480700|480701|480702|480703|480704|480705|480706|480707|480708|480709|480710|480711|480712|480713|480714|480715|480716|480717|480718|480719|480720|480721|480722|480723|480724|509882|511090|897682|897683|897684|897685|897686|897687|897688|897689|897690|897691|897692|897693|897694|897695|897696|897697|897698|897699|897700|919090", + "upstreamId": "19878|21885|23308|29165|29190|45263|45357|45358|52071|52182|52997|54849|54851|54852|54853|54854|54857|54862|54864|54867|54871|54874|54875|54876|54878|54882|54882|54886|54888|54892|54898|67638|67758|77939|78562|99385|174047|177380|179122|179133|188550|188574|188722|189798|196689|196972|198498|224349|224519|225032|229564|252655|266688|281616|302196|302212|302215|302216|302224|305396|305405|305406|305426|305434|305440|305443|305444|305445|305447|310221|310227|310228|310229|310234|310323|310325|310327|310328|310329|310346|310347|310357|360891|369358|405107|424509|431889|456504|456900|457546|457592|471375|480667|480668|480669|480670|480671|480672|480673|480674|480675|480676|480677|480678|480679|480680|480681|480682|480683|480684|480685|480686|480687|480688|480689|480690|480691|480692|480693|480694|480695|480696|480697|480698|480699|480700|480701|480702|480703|480704|480705|480706|480707|480708|480709|480710|480711|480712|480713|480714|480715|480716|480717|480718|480719|480720|480721|480722|480723|480724|509882|511090|897682|897683|897684|897685|897686|897687|897688|897689|897690|897691|897692|897693|897694|897695|897696|897697|897698|897699|897700|919090", "text": "Wolff-Parkinson-White pattern" }, { - "baseId": "19882", + "upstreamId": "19882", "text": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf, MODIFIER OF" }, { - "baseId": "19885|19886|19887|101375|101376|101377|101378|101379|101382|101383|101385|101388|101390|101390|142411|142412|142413|142414|142415|142417|142418|142420|142422|142426|142428|142429|142430|169585|169586|169587|169589|169590|169591|169593|169594|169595|169596|169598|169599|169599|169600|169601|169602|188053|194448|195710|203566|203574|203578|203586|203593|203595|203603|203621|203627|208613|208617|208619|269764|269764|334102|349265|349267|350235|350236|350237|350239|350241|350243|350248|377606|377883|379617|403779|430258|490857|551744|570954|573264|575017|575020|580406|620912|648288|689148|798757|802226|847905|882328|882329|882330|882331|882332|882333|882334|882917|882918|966010|966011|966012|971139|976517", + "upstreamId": "19885|19886|19887|101375|101376|101377|101378|101379|101382|101383|101385|101388|101390|101390|142411|142412|142413|142414|142415|142417|142418|142420|142422|142426|142428|142429|142430|169585|169586|169587|169589|169590|169591|169593|169594|169595|169596|169598|169599|169599|169600|169601|169602|188053|194448|195710|203566|203574|203578|203586|203593|203595|203603|203621|203627|208613|208617|208619|269764|269764|334102|349265|349267|350235|350236|350237|350239|350241|350243|350248|377606|377883|379617|403779|430258|490857|551744|570954|573264|575017|575020|580406|620912|648288|689148|798757|802226|847905|882328|882329|882330|882331|882332|882333|882334|882917|882918|966010|966011|966012|971139|976517", "text": "Early infantile epileptic encephalopathy 10" }, { - "baseId": "19886|101390|169599|185664|185665|185666|188053|203593|203595|269764|403779|551744|573264|575017|575020|578568|679847", + "upstreamId": "19886|101390|169599|185664|185665|185666|188053|203593|203595|269764|403779|551744|573264|575017|575020|578568|679847", "text": "Ataxia-oculomotor apraxia 4" }, { - "baseId": 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+ "upstreamId": "19886|39601|83720|101374|101375|101376|101377|101378|101379|101380|101381|101382|101383|101384|101385|101386|101388|101390|101585|135344|135346|135348|135350|135351|135353|135354|135355|135356|135357|135358|135359|135360|135361|135362|135363|142411|142412|142413|142414|142415|142417|142419|142420|142421|142422|142424|142425|142426|142428|142429|169586|169587|169589|169590|169591|169594|169596|169599|169601|177967|185664|188053|191405|191561|191690|191824|192675|192990|194448|194953|195359|195710|196009|196283|203566|203568|203571|203573|203574|203575|203576|203577|203578|203580|203581|203584|203585|203587|203590|203592|203593|203594|203598|203601|203604|203608|203610|203611|203612|203613|203616|203619|203621|208613|208617|208619|208711|237071|243593|243594|257444|257445|267446|269129|269764|271299|272504|272782|336426|336429|336450|336464|346145|346148|346150|346152|346169|350241|350451|350453|350454|350455|350458|350460|350465|350468|350469|350470|350471|350473|350474|350476|350482|351497|351499|351502|351503|351507|351510|351514|351517|351519|351520|351521|351525|351528|351530|351532|351537|360438|364121|376665|376673|376689|377868|379616|379617|403350|403695|403697|403699|403701|403704|403779|403781|403791|403856|404208|404211|404213|404230|404234|410653|410658|410663|415665|422295|426322|430415|430416|442240|446171|446174|469015|469504|469507|469509|469511|469519|469969|469972|470274|470462|470464|470479|470484|470489|470552|470560|470563|470568|471074|471115|471116|471119|471122|471130|471532|471541|471542|471548|471553|490855|491081|493596|507125|507128|507929|533137|533139|533143|533151|533259|533277|533278|533282|533284|533285|533287|533471|533511|533693|533695|533698|533700|533709|533713|533726|533733|533740|533744|533746|533747|533752|533755|533757|533760|533762|533764|533769|534319|534321|534324|539099|570945|570949|570950|570954|571428|571430|571432|571441|571442|571444|571450|572625|572629|572995|573000|573003|573005|573006|573264|573269|573274|573276|573698|573710|573711|575014|575015|575016|575017|575019|575020|575141|575142|575143|578568|580451|580455|580619|580624|580698|580700|584318|587698|614481|620921|648286|648287|648288|648289|648290|648291|648292|648293|648294|648295|648296|648297|648298|648299|648300|648301|648302|648303|648304|648305|648306|648307|648864|648865|648866|648867|648868|648869|648870|648871|648872|648873|648874|648875|648876|648877|653197|653626|684899|684900|689146|689147|689149|689150|689228|689229|689231|689234|689235|689236|689237|690237|690239|694606|694607|694608|694609|742565|757713|760920|772817|772821|773268|773275|776707|786476|802232|821281|821282|821314|821315|821348|821349|821350|821351|847885|847886|847887|847888|847889|847890|847891|847892|847893|847894|847895|847896|847897|847898|847899|847900|847901|847902|847903|847904|847905|847906|847907|848629|848630|848631|848632|848633|848634|848635|848636|848637|848638|848639|848640|848641|848642|848643|848644|848645|848646|848647|848648|848649|848650|848651|848652|848653|848654|848655|848656|848657|848658|848659|851855|852393|852886|852987|886561|886562|886563|886564|886565|886566|886567|886568|886569|886570|886571|886572|886573|886574|886575|886576|886577|886578|886579|886580|886581|886582|886583|886584|886585|886586|886587|886588|886589|886590|886591|886592|886593|886594|886595|886596|886597|886598|886599|886600|886601|886602|886604|887495|929047|929048|929049|929050|929051|929052|929272|929273|929274|929275|929276|929277|929278|929279|938786|938787|938788|938789|938790|938791|938792|938793|938794|938795|938796|938797|938798|939061|939062|939063|939064|939065|939066|939067|940489|941238|941239|941240|941256|950870|950871|950872|950873|951182|951183|951184|951185|951186|951187|951188|958698|958699|958700|958701|958702|958703|958925|958926|958927|958928|958929|958930|958931|960299|960925|960948", "text": "Early infantile epileptic encephalopathy 12" }, { - "baseId": "19889|19890|19891|53251|53252|53253|53254|53255|53256|53257|75452|176237|176360|187219|187220|187221|193735|231119|336750|336755|336757|336759|336765|336766|346418|346422|346427|346428|350644|350645|350646|350647|350648|350649|351699|351700|351701|351704|351705|351708|351709|351712|351713|590337|886751|886752|886753|886754|886755|886756|886757|886758|886759|886760|886761|886762|886763|886764|886765|886766|887504|982228", + "upstreamId": "19889|19890|19891|53251|53252|53253|53254|53255|53256|53257|75452|176237|176360|187219|187220|187221|193735|231119|336750|336755|336757|336759|336765|336766|346418|346422|346427|346428|350644|350645|350646|350647|350648|350649|351699|351700|351701|351704|351705|351708|351709|351712|351713|590337|886751|886752|886753|886754|886755|886756|886757|886758|886759|886760|886761|886762|886763|886764|886765|886766|887504|982228", "text": "Deafness, autosomal recessive 29" }, { - "baseId": "19892|19894|19895|19897|19899|19900|19902|19903|19905|19906|19909", + "upstreamId": "19892|19894|19895|19897|19899|19900|19902|19903|19905|19906|19909", "text": "Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1" }, { - "baseId": "19892|19893|19896|19897|19898|19904|19905|19908|19910|171757|171758|171759|178772|178773|178774|178776|178777|178778|250961|250962|354103|354104|354105|354106|354107|354108|354109|354110|354111|354112|354113|354114|354115|354116|354117|354118|354119|354120|354121|354122|354123|354124|354125|354126|354127|354128|354129|354130|354131|354132|354133|354134|354135|354136|354137|354138|354139|354140|354141|354142|354143|354144|354145|354146|354147|354148|354149|354150|354151|354152|354153|354154|354155|362075|384478|427126|550591|622791|622792|622793|622794|622795|622796|622797|622798|622799|622800|622801|622802|622803|622804|622805|622806|622807|622808|622809|622810|622811|622812|622813|622814|622815|622816|622817|622818|622819|622820|622821|622822|622823|622824|622825|622826|622827|818224", + "upstreamId": "19892|19893|19896|19897|19898|19904|19905|19908|19910|171757|171758|171759|178772|178773|178774|178776|178777|178778|250961|250962|354103|354104|354105|354106|354107|354108|354109|354110|354111|354112|354113|354114|354115|354116|354117|354118|354119|354120|354121|354122|354123|354124|354125|354126|354127|354128|354129|354130|354131|354132|354133|354134|354135|354136|354137|354138|354139|354140|354141|354142|354143|354144|354145|354146|354147|354148|354149|354150|354151|354152|354153|354154|354155|362075|384478|427126|550591|622791|622792|622793|622794|622795|622796|622797|622798|622799|622800|622801|622802|622803|622804|622805|622806|622807|622808|622809|622810|622811|622812|622813|622814|622815|622816|622817|622818|622819|622820|622821|622822|622823|622824|622825|622826|622827|818224", "text": "Blepharophimosis, ptosis, and epicanthus inversus" }, { - "baseId": "19893|19896|19897|19898|19900|19901|39464", + "upstreamId": "19893|19896|19897|19898|19900|19901|39464", "text": "Blepharophimosis, ptosis, and epicanthus inversus syndrome type 2" }, { - "baseId": "19893", + "upstreamId": "19893", "text": "Blepharophimosis, ptosis, and epicanthus inversus, type II with Duane retraction syndrome" }, { - "baseId": "19907|19908|19910|494916|513226", + "upstreamId": "19907|19908|19910|494916|513226", "text": "Premature ovarian failure 3" }, { - "baseId": "19911|19912|19913|19914|19915|19916|19917|19918|19919|19920|205160|253619|253623|309005|309009|313767|313770|313771|319579|319583|319584|320160|320168|723674|723675|902595|902596|902597|902598|902599|902600|902601|902602|903447|903448|903449", + "upstreamId": "19911|19912|19913|19914|19915|19916|19917|19918|19919|19920|205160|253619|253623|309005|309009|313767|313770|313771|319579|319583|319584|320160|320168|723674|723675|902595|902596|902597|902598|902599|902600|902601|902602|903447|903448|903449", "text": "Testosterone 17-beta-dehydrogenase deficiency" }, { - "baseId": "19913|19914|19916|205160|259931|485709|485745|485746|485747|485748|485749|485750|485751|485752", + "upstreamId": "19913|19914|19916|205160|259931|485709|485745|485746|485747|485748|485749|485750|485751|485752", "text": "Pseudohermaphroditism" }, { - "baseId": "19923", + "upstreamId": "19923", "text": "HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO" }, { - "baseId": "19925|19931", + "upstreamId": "19925|19931", "text": "Pituitary adenoma predisposition" }, { - "baseId": "19925|19926|19927|19928|19929|19930|19931|19932|19933|49580|49581|49582|49583|49584|49585|49586|49587|49588|49589|49590|49591|49592|49593|49594|49595|49596|49597|49598|49599|49600|49601|49602|49603|49604|49605|49606|49607|49608|49609|49610|49611|49612|49613|49615|49616|49617|49618|49619|49620|49621|49622|49623|49624|49625|49626|49627|49628|49630|49631|49632|49634|49635|49636|49637|49638|49639|254274|254275|254276|314891|314892|321250|321657|321659|321664|321673|321676|321678|321679|327770|327776|328842|328845|328849|328850|328858|328859|440017|440018|476010|476326|476355|810866|810885|810887|810903|810904|810914|868413|868414|868415", + "upstreamId": "19925|19926|19927|19928|19929|19930|19931|19932|19933|49580|49581|49582|49583|49584|49585|49586|49587|49588|49589|49590|49591|49592|49593|49594|49595|49596|49597|49598|49599|49600|49601|49602|49603|49604|49605|49606|49607|49608|49609|49610|49611|49612|49613|49615|49616|49617|49618|49619|49620|49621|49622|49623|49624|49625|49626|49627|49628|49630|49631|49632|49634|49635|49636|49637|49638|49639|254274|254275|254276|314891|314892|321250|321657|321659|321664|321673|321676|321678|321679|327770|327776|328842|328845|328849|328850|328858|328859|440017|440018|476010|476326|476355|810866|810885|810887|810903|810904|810914|868413|868414|868415", "text": "Somatotroph adenoma" }, { - "baseId": "19932|30944|171718|171719|171720|171721|476010|476355", + "upstreamId": "19932|30944|171718|171719|171720|171721|476010|476355", "text": "Pituitary dependent hypercortisolism" }, { - "baseId": "19932", + "upstreamId": "19932", "text": "Dopamine agonist response" }, { - "baseId": "19935", + "upstreamId": "19935", "text": "Acheiropodia" }, { - "baseId": "19936|19938|19939|19941|19942|19945|19946|39453|39454|131903|138840|267812|268089|302229|302231|302235|302256|302261|302262|302264|302265|302269|302271|302272|302280|302281|302284|302285|302286|302290|302292|302294|302295|305453|305454|305456|305458|305461|305463|305480|305482|305484|305501|305504|305505|305506|310238|310241|310242|310248|310256|310271|310272|310273|310280|310282|310283|310284|310290|310295|310307|310313|310335|310360|310364|310365|310366|310373|310375|310377|310378|310386|310389|310395|310399|310400|310406|310407|310408|310415|310420|310429|310431|310432|310436|353808|897701|897702|897703|897704|897705|897706|897707|897708|897709|897710|897711|897712|897713|897714|897715|897716|897717|897718|897719|897720|897721|897722|897723|897724|897725|897726|897727|897728|897729|897730|897731|897732|897733|897734|897735|900334", + "upstreamId": "19936|19938|19939|19941|19942|19945|19946|39453|39454|131903|138840|267812|268089|302229|302231|302235|302256|302261|302262|302264|302265|302269|302271|302272|302280|302281|302284|302285|302286|302290|302292|302294|302295|305453|305454|305456|305458|305461|305463|305480|305482|305484|305501|305504|305505|305506|310238|310241|310242|310248|310256|310271|310272|310273|310280|310282|310283|310284|310290|310295|310307|310313|310335|310360|310364|310365|310366|310373|310375|310377|310378|310386|310389|310395|310399|310400|310406|310407|310408|310415|310420|310429|310431|310432|310436|353808|897701|897702|897703|897704|897705|897706|897707|897708|897709|897710|897711|897712|897713|897714|897715|897716|897717|897718|897719|897720|897721|897722|897723|897724|897725|897726|897727|897728|897729|897730|897731|897732|897733|897734|897735|900334", "text": "Polydactyly, preaxial II" }, { - "baseId": "19937|131903|165717|165719", + "upstreamId": "19937|131903|165717|165719", "text": "Tibia, hypoplasia or aplasia of, with polydactyly" }, { - "baseId": "19939|19941|19942|19945|131903", + "upstreamId": "19939|19941|19942|19945|131903", "text": "Triphalangeal thumb" }, { - "baseId": "19940|19943|310236|310274|310336|310388|310404|310438", + "upstreamId": "19940|19943|310236|310274|310336|310388|310404|310438", "text": "Triphalangeal thumb polysyndactyly syndrome" }, { - "baseId": "19944|165718|576248", + "upstreamId": "19944|165718|576248", "text": "Syndactyly, type IV" }, { - "baseId": 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+ "upstreamId": "19947|19948|34370|34371|34372|49674|103705|103706|103707|141830|141831|141833|141834|141836|141837|141839|141840|141841|232037|232038|232039|232040|232044|232045|232047|232049|232050|232055|232058|232059|245082|245085|245086|245087|256646|264723|330937|330947|330954|330957|330967|330976|330982|330983|330984|330988|330992|330994|330999|331000|331005|331010|331012|331014|331017|331018|331019|331023|331031|331032|331038|331045|331047|331048|331049|331053|331054|331056|331060|341219|341226|341227|341251|341252|341261|341262|341276|341277|341285|341290|341296|341297|341299|341300|341303|341305|341307|341309|341313|341314|346756|346757|346758|346759|346761|346765|346766|346767|346770|346771|346774|346776|346780|346794|346795|346802|346804|346807|346808|346809|346813|346817|346820|346828|346831|346834|346845|346848|346850|346853|348041|348042|348043|348044|348045|348046|348047|348050|348053|348057|348058|348059|348060|348061|348062|348065|348070|348072|348077|348078|348080|348081|348083|348084|348090|348091|348096|375857|375858|375859|376754|376761|433667|433668|445948|467909|468811|468814|469219|469237|469627|469633|491476|506897|512877|532173|532180|532182|532185|532186|532269|532270|532564|532567|532580|532589|539079|570061|570066|570072|571852|571856|572524|572528|572571|574715|610124|614450|620895|620896|647111|647112|647113|647114|647115|647116|647117|647118|647119|647120|647121|647122|647123|647124|652885|653549|669717|694259|727684|731213|772100|800079|800080|800081|800082|821181|821182|846720|846721|846722|846723|846724|846725|846726|846727|846728|846729|846730|846731|846732|846733|846734|846735|846736|852270|879029|879030|879031|879032|879033|879034|879035|879036|879037|879038|879039|879040|879041|879042|879043|879044|879045|879046|879047|879048|879049|879050|879051|879052|879053|879054|879055|879056|879057|879058|879059|879060|879061|879062|879063|879064|879065|879066|879067|879068|879069|879070|879071|879072|879073|879074|879075|879076|879077|879078|879079|879080|879081|879082|879083|879084|880642|880643|928669|928670|928671|928672|938393|938394|940454|950476|950477|950478|950479|950480|950481|958449|958450|958451|982136|982137|982138", "text": "Majeed syndrome" }, { - "baseId": "19949|19950|19951|19952|19953|102391|250096|250097|250098|250102|250104|250106|250108|281682|281684|281685|281686|281691|281692|281702|281704|281710|281715|281717|281718|282336|282337|282338|282341|282342|282343|282356|282357|282358|282364|282372|282373|283743|283748|283750|283754|283758|283760|283761|283777|283781|283782|283783|283790|283801|283802|283806|283812|283813|283814|284008|284010|284013|284016|284018|284019|284025|284032|284033|284035|284043|284060|284066|284073|620027|653925|653926|707688|707689|798480|880917|880918|880919|880920|880921|880922|880923|880924|880925|880926|880927|880928|880929|880930|880931|880932|880933|880934|880935|880936|880937|880938|880939|880940|880941|880942|880943|880944|880945|880946|880947|880948|880949|880950|880951|880952|880953|880954|880955|880956|880957|880958|880959|880960|882788|882789|882790|961501", + "upstreamId": "19949|19950|19951|19952|19953|102391|250096|250097|250098|250102|250104|250106|250108|281682|281684|281685|281686|281691|281692|281702|281704|281710|281715|281717|281718|282336|282337|282338|282341|282342|282343|282356|282357|282358|282364|282372|282373|283743|283748|283750|283754|283758|283760|283761|283777|283781|283782|283783|283790|283801|283802|283806|283812|283813|283814|284008|284010|284013|284016|284018|284019|284025|284032|284033|284035|284043|284060|284066|284073|620027|653925|653926|707688|707689|798480|880917|880918|880919|880920|880921|880922|880923|880924|880925|880926|880927|880928|880929|880930|880931|880932|880933|880934|880935|880936|880937|880938|880939|880940|880941|880942|880943|880944|880945|880946|880947|880948|880949|880950|880951|880952|880953|880954|880955|880956|880957|880958|880959|880960|882788|882789|882790|961501", "text": "Myoglobinuria, acute recurrent, autosomal recessive" }, { - "baseId": 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+ "upstreamId": 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"text": "Usher syndrome type 1D" }, { - "baseId": "19955|55026|55042|55045|55048|55057|55060|55077|55079|55138|55157|55183|55186|55205|55241|55243|99987|174991|175248|175260|175275|175279|175285|175289|191947|192050|229864|229867|229873|229883|229890|266983|269641|310668|310674|310688|310691|310695|310704|310717|310726|310729|310731|310736|310739|310742|310743|310745|310747|315906|315907|315920|315925|315926|315927|315928|315930|315942|315946|315947|315975|315976|315981|316006|316010|316021|316031|322001|322004|322010|322034|322036|322048|322059|322073|322087|322088|322089|322090|322101|322105|322109|322644|322645|322646|322647|322651|322654|322658|322668|322674|322686|322701|322709|322710|322711|322712|322713|322725", + "upstreamId": "19955|55026|55042|55045|55048|55057|55060|55077|55079|55138|55157|55183|55186|55205|55241|55243|99987|174991|175248|175260|175275|175279|175285|175289|191947|192050|229864|229867|229873|229883|229890|266983|269641|310668|310674|310688|310691|310695|310704|310717|310726|310729|310731|310736|310739|310742|310743|310745|310747|315906|315907|315920|315925|315926|315927|315928|315930|315942|315946|315947|315975|315976|315981|316006|316010|316021|316031|322001|322004|322010|322034|322036|322048|322059|322073|322087|322088|322089|322090|322101|322105|322109|322644|322645|322646|322647|322651|322654|322658|322668|322674|322686|322701|322709|322710|322711|322712|322713|322725", "text": "CDH23-Related Disorders" }, { - "baseId": 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+ "upstreamId": 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"text": "Deafness, autosomal recessive 12" }, { - "baseId": "19955|55055|55077|55099|55108|55112|55142|55165|55166|55186|55197|55241|101920|174966|175253|177262|195531|229873|322073|407901|413285|431528|431529|431530|431531|919284|976659", + "upstreamId": "19955|55055|55077|55099|55108|55112|55142|55165|55166|55186|55197|55241|101920|174966|175253|177262|195531|229873|322073|407901|413285|431528|431529|431530|431531|919284|976659", "text": "Pituitary adenoma 5, multiple types" }, { - "baseId": "19964|19965|19973|55611", + "upstreamId": "19964|19965|19973|55611", "text": "USHER SYNDROME, TYPE ID/F, DIGENIC" }, { - "baseId": 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"text": "Usher syndrome type 1F" }, { - "baseId": "19970|19972|19972|19974|19975|33468|55629|55640|132045|174719|266037|321704|321718|357856|389231|404788|444618|545895|553261|578485|610569|980939", + "upstreamId": "19970|19972|19972|19974|19975|33468|55629|55640|132045|174719|266037|321704|321718|357856|389231|404788|444618|545895|553261|578485|610569|980939", "text": "Deafness, autosomal recessive 23" }, { - "baseId": "19978|19979|19980|140907|140908|140909|301147|301150|301151|301152|301154|301163|301165|301166|301167|304225|304227|304228|304236|304237|304239|304240|304241|304248|304255|308918|308919|308925|308929|308930|308931|308932|308934|308935|308936|308938|308941|309016|309021|309022|309025|309029|309029|309030|309038|309040|552108|589206|896971|896972|896973|896974|896975|896976|896977|896978|896979|896980|896981|896982|896983|896984|896985|896986|896987|896988|900276|917626|917628", + "upstreamId": "19978|19979|19980|140907|140908|140909|301147|301150|301151|301152|301154|301163|301165|301166|301167|304225|304227|304228|304236|304237|304239|304240|304241|304248|304255|308918|308919|308925|308929|308930|308931|308932|308934|308935|308936|308938|308941|309016|309021|309022|309025|309029|309029|309030|309038|309040|552108|589206|896971|896972|896973|896974|896975|896976|896977|896978|896979|896980|896981|896982|896983|896984|896985|896986|896987|896988|900276|917626|917628", "text": "Stargardt Disease 3" }, { - "baseId": 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"text": "Osteogenesis imperfecta type 7" }, { - "baseId": "19992|19993|19994|48252|176496|176497|176498|176633|176634|176635|191090|230778|230779|230780|230781|230782|242965|242966|242971|242972|242973|242974|256381|256382|256384|256387|256388|256390|256392|256393|329754|329755|329757|329758|329763|329764|329765|329766|340046|340056|340057|340060|340061|340068|345756|345758|345759|345762|345763|345769|345773|347147|347148|347151|347155|402506|402517|403139|532130|532146|548331|569714|571581|620888|646669|646670|688829|688839|688841|694189|771799|792808|878358|878359|878360|878361|878362|878363|878364|878365|878366|878367|878368|880573|880574", + "upstreamId": "19992|19993|19994|48252|176496|176497|176498|176633|176634|176635|191090|230778|230779|230780|230781|230782|242965|242966|242971|242972|242973|242974|256381|256382|256384|256387|256388|256390|256392|256393|329754|329755|329757|329758|329763|329764|329765|329766|340046|340056|340057|340060|340061|340068|345756|345758|345759|345762|345763|345769|345773|347147|347148|347151|347155|402506|402517|403139|532130|532146|548331|569714|571581|620888|646669|646670|688829|688839|688841|694189|771799|792808|878358|878359|878360|878361|878362|878363|878364|878365|878366|878367|878368|880573|880574", "text": "Ciliary dyskinesia, primary, 9" }, { - "baseId": 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+ "upstreamId": "19995|19997|19998|19999|20000|20001|20002|20003|20004|20005|34400|34401|34403|34404|34405|34406|34407|34408|34410|34412|34413|34414|34416|34417|34418|34419|34420|34421|34422|34423|34424|34425|34426|34427|34428|34429|34430|34431|34432|34433|34434|34435|34436|34437|34438|34439|34440|34441|34442|34443|34444|34445|34446|34448|34449|34450|34451|34452|34454|34455|34456|34457|34458|34459|34460|34461|34462|34463|34464|34465|34466|34467|34468|34469|34470|34471|34472|34473|34474|34475|34476|34477|34478|34479|34480|34481|34482|34483|34484|34485|34486|34487|34488|34489|34490|34491|34492|34493|47412|52677|101783|101784|101785|101786|140126|140127|140130|165918|167615|167616|167617|167618|167619|167621|167622|167623|167624|167625|167626|167627|167629|167630|167631|167632|167633|167634|167636|167637|167640|167641|167642|167643|167644|167645|167646|167647|167648|167650|167651|167652|167653|167655|167656|167658|167659|167660|167661|167662|167664|167665|167666|167667|167668|167669|167670|167671|167672|167673|167674|167675|167676|167677|167678|167679|167680|167681|167682|167683|167684|167685|167687|167688|167689|167690|167691|167692|167693|167694|167696|167697|167698|167700|167701|167702|167703|167704|167705|167706|167707|167708|167709|167710|167711|167714|167715|167716|167717|167718|167720|167721|167722|167723|167725|167727|167728|167730|167731|167732|167733|167734|167735|167736|167737|167738|167739|167740|167741|167742|167743|167744|167745|167746|167747|167748|167750|167751|167752|167753|167755|167756|167758|167759|167760|167761|167762|167763|167765|167766|167767|167768|167769|167770|177188|177495|192034|192036|192039|192040|192041|192777|206731|206733|206735|206738|206739|206740|206741|206742|206743|206744|206745|206748|206750|206754|209337|226872|227207|231448|231451|231458|231459|231462|231475|259640|266601|266967|268441|268982|272265|272714|272991|278274|278275|278276|278277|278279|278282|278283|278284|278285|278286|278287|278290|278292|278293|278294|278296|278299|278300|278301|278302|278303|278304|278306|278314|278315|278319|278322|278323|278326|278327|278331|278333|278337|278339|278344|279335|279336|279338|279340|279342|279347|279349|279362|279366|279370|279373|279374|279377|279382|279398|279400|279403|279419|279420|279422|279447|279449|279451|279464|279466|279472|279479|279481|279482|279488|279513|279516|279517|279520|279521|279522|362223|362224|364730|389113|404996|424265|427666|427671|427675|427676|427677|427679|427680|427682|427683|432207|432208|488664|498177|498179|498309|513237|513501|514418|514852|576449|578372|619979|619980|619981|622308|622858|681820|681821|681822|681823|731977|745949|745952|789105|793998|863164|863165|863166|863167|863168|863169|863170|863171|863172|863173|863174|863175|863176|863177|863178|863179|863180|863181|863182|863183|863184|863185|863186|863187|863188|863189|863190|863191|863192|863193|863194|863195|863196|863197|863198|863199|863200|863201|863202|863203|863204|863205|863206|863207|863208|863209|863210|863211|863212|863213|863214|863215|863216|865081|865082|865083|865084|965948|965949|965950|965951|965952|965953|966032|980901|983300|983789", "text": "Primary autosomal recessive microcephaly 5" }, { - "baseId": "20006|20007|20011|20014|20019|39442|190614|191425|191426|196061|224255|266271|268049|268873|271029|271030|273979|274052|275501|286312|286313|286320|286321|286369|287067|287085|289380|289382|289411|289418|289759|289763|289767|289777|488390|489018|491897|491943|492385|496703|536628|584794|585560|620748|630003|708280|708281|733477|781327|826480|826481|826482|826483|826484|851178|922770|922771|939894|942919", + "upstreamId": "20006|20007|20011|20014|20019|39442|190614|191425|191426|196061|224255|266271|268049|268873|271029|271030|273979|274052|275501|286312|286313|286320|286321|286369|287067|287085|289380|289382|289411|289418|289759|289763|289767|289777|488390|489018|491897|491943|492385|496703|536628|584794|585560|620748|630003|708280|708281|733477|781327|826480|826481|826482|826483|826484|851178|922770|922771|939894|942919", "text": "Sitosterolemia" }, { - "baseId": "20006|20007|20008|20009|20010|20011|20012|20013|20014|48119|190614|191425|196061|196062|265756|267766|268049|268307|268873|268994|269660|271030|271240|272701|272704|272795|272936|273321|274052|274207|274619|275190|275261|275501|275518|286300|286307|286308|286309|286310|286312|286313|286314|286319|286320|286321|286326|286327|286331|286332|286334|286344|286346|286353|286355|286364|286365|286367|286370|287052|287056|287058|287062|287066|287067|287074|287076|287077|287078|287079|289360|289364|289377|289380|289382|289387|289389|289390|289393|289394|289403|289409|289415|289417|289753|289755|289756|289761|289762|289763|289765|289766|289774|289777|289782|289791|289792|289799|289801|289803|289804|289805|489018|489019|490263|491353|493333|494188|584794|585411|585560|585800|586372|586439|588007|588061|588380|588878|589582|697572|708280|708281|708282|719880|884919|884920|884921|884922|884923|884924|884925|884926|884927|884928|884929|884930|884931|884932|884933|884934|884935|884936|884937|884938|884939|884940|884941|884943|884944|884945|884946|884947|884948|884949|884950|884951|884952|884953|884954|884955|884956|884957|884958|884959|884960|884961|887364|887365|887366|887367|961065", + "upstreamId": "20006|20007|20008|20009|20010|20011|20012|20013|20014|48119|190614|191425|196061|196062|265756|267766|268049|268307|268873|268994|269660|271030|271240|272701|272704|272795|272936|273321|274052|274207|274619|275190|275261|275501|275518|286300|286307|286308|286309|286310|286312|286313|286314|286319|286320|286321|286326|286327|286331|286332|286334|286344|286346|286353|286355|286364|286365|286367|286370|287052|287056|287058|287062|287066|287067|287074|287076|287077|287078|287079|289360|289364|289377|289380|289382|289387|289389|289390|289393|289394|289403|289409|289415|289417|289753|289755|289756|289761|289762|289763|289765|289766|289774|289777|289782|289791|289792|289799|289801|289803|289804|289805|489018|489019|490263|491353|493333|494188|584794|585411|585560|585800|586372|586439|588007|588061|588380|588878|589582|697572|708280|708281|708282|719880|884919|884920|884921|884922|884923|884924|884925|884926|884927|884928|884929|884930|884931|884932|884933|884934|884935|884936|884937|884938|884939|884940|884941|884943|884944|884945|884946|884947|884948|884949|884950|884951|884952|884953|884954|884955|884956|884957|884958|884959|884960|884961|887364|887365|887366|887367|961065", "text": "Sitosterolemia 1" }, { - "baseId": "20014|196061|491943", + "upstreamId": "20014|196061|491943", "text": "Gallbladder disease 4" }, { - "baseId": "20015|20016|20017|20018|20019|20020|39441|39442", + "upstreamId": "20015|20016|20017|20018|20019|20020|39441|39442", "text": "Sitosterolemia 2" }, { - "baseId": 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+ "upstreamId": "20021|20022|20023|20024|20026|20027|20027|20028|71266|101844|105698|105698|105701|105703|105705|105705|105708|105709|105709|105714|105715|105716|106466|106466|166161|166162|166168|166169|177015|177409|189087|191584|192516|192517|192517|192996|223641|237301|237301|238063|254909|254909|254910|254911|254912|254913|260938|267200|267809|267809|268032|268032|268143|269275|269275|269345|269345|320294|320294|320295|320298|320301|320302|320306|320307|320308|320308|328878|328878|328882|328895|328895|328899|328905|335478|335483|335484|335485|335488|335489|335489|335492|337366|337367|337367|337370|337374|337376|337376|374092|374092|374098|374098|375915|413368|418825|431773|431773|431774|431775|431776|464095|464095|482045|488964|488964|489426|489717|489718|492643|493974|493974|513343|514039|528035|528035|528037|551569|551570|551570|566290|567864|567864|568741|568743|576338|576338|578347|578511|612156|693451|693452|693453|693453|693454|702801|702803|702803|702804|702804|725612|725613|730931|730931|744800|753965|769716|779731|791387|800581|802186|802187|802188|802189|802190|802191|802247|820599|820600|820601|820602|820603|841160|841161|841162|841163|841163|841164|841165|841166|841167|841168|841169|841170|841171|841172|841173|841174|841175|841176|841177|841178|851545|851987|852728|852728|871695|871696|871697|871698|871699|871700|871701|871702|871703|871704|871704|871705|871706|871707|871708|871709|871710|871710|871711|871712|871712|871713|871714|871715|871716|871717|872359|872360|926980|926981|936540|936541|936542|936543|936544|936545|936546|936547|936548|936549|936550|940300|948461|948462|948463|948464|948465|948466|948467|948468|948469|948470|948471|948472|948473|948474|948475|957161|957162|957163|957164|957165|957166|957167|957168|960079|960080|960081|960082|960799|960800|969718|969720|969721|969722|969723|969724|969725|969726|969727|969728|969729|969730|969731|969732|970004", "text": "Leber congenital amaurosis 6" }, { - "baseId": "20025|20026|20027|101844|105698|105701|105705|105705|105708|105709|105709|105715|105716|106466|106466|177015|177409|191584|192516|192517|192517|192996|213628|223641|237301|237301|254909|254909|254910|254911|254912|254913|267200|267809|267809|268032|268143|269275|269275|269345|269345|320294|320294|320295|320298|320301|320302|320306|320307|320308|320308|328878|328878|328882|328895|328895|328899|328905|335478|335483|335484|335485|335488|335489|335489|335492|337366|337367|337367|337370|337374|337376|337376|374092|374092|374098|374098|418825|431773|431774|464095|464095|482045|488964|488964|489426|489717|489718|493974|493974|528035|528035|528037|551570|566290|567864|567864|568741|568743|576338|578511|693451|693452|693453|693453|693454|702801|702803|702803|702804|702804|725612|725613|730931|730931|744800|753965|769716|779731|791387|820599|820600|820601|820602|820603|841160|841161|841162|841163|841163|841164|841165|841166|841167|841168|841169|841170|841171|841172|841173|841174|841175|841176|841177|841178|851545|851987|852728|852728|871695|871696|871697|871698|871699|871700|871701|871702|871703|871704|871704|871705|871706|871707|871708|871709|871710|871710|871711|871712|871712|871713|871714|871715|871716|871717|872359|872360|926980|926981|936540|936541|936542|936543|936544|936545|936546|936547|936548|936549|936550|940300|948461|948462|948463|948464|948465|948466|948467|948468|948469|948470|948471|948472|948473|948474|948475|957161|957162|957163|957164|957165|957166|957167|957168|960079|960080|960081|960082|960799|960800", + "upstreamId": "20025|20026|20027|101844|105698|105701|105705|105705|105708|105709|105709|105715|105716|106466|106466|177015|177409|191584|192516|192517|192517|192996|213628|223641|237301|237301|254909|254909|254910|254911|254912|254913|267200|267809|267809|268032|268143|269275|269275|269345|269345|320294|320294|320295|320298|320301|320302|320306|320307|320308|320308|328878|328878|328882|328895|328895|328899|328905|335478|335483|335484|335485|335488|335489|335489|335492|337366|337367|337367|337370|337374|337376|337376|374092|374092|374098|374098|418825|431773|431774|464095|464095|482045|488964|488964|489426|489717|489718|493974|493974|528035|528035|528037|551570|566290|567864|567864|568741|568743|576338|578511|693451|693452|693453|693453|693454|702801|702803|702803|702804|702804|725612|725613|730931|730931|744800|753965|769716|779731|791387|820599|820600|820601|820602|820603|841160|841161|841162|841163|841163|841164|841165|841166|841167|841168|841169|841170|841171|841172|841173|841174|841175|841176|841177|841178|851545|851987|852728|852728|871695|871696|871697|871698|871699|871700|871701|871702|871703|871704|871704|871705|871706|871707|871708|871709|871710|871710|871711|871712|871712|871713|871714|871715|871716|871717|872359|872360|926980|926981|936540|936541|936542|936543|936544|936545|936546|936547|936548|936549|936550|940300|948461|948462|948463|948464|948465|948466|948467|948468|948469|948470|948471|948472|948473|948474|948475|957161|957162|957163|957164|957165|957166|957167|957168|960079|960080|960081|960082|960799|960800", "text": "Cone-rod dystrophy 13" }, { - "baseId": "20026|24389|24392|24394|24396|24397|38391|76480|76620|100027|102552|104429|104431|104432|104433|104433|104436|104437|104440|104441|104442|104443|104445|104447|104447|104448|104451|104455|104456|104456|104456|104465|104467|104469|104471|104472|104474|104475|104476|104477|104479|104480|104480|104484|104491|104492|104492|104493|104494|104495|104497|104499|104500|104501|105486|105494|105510|105560|105683|105795|105802|105803|152779|177112|177374|191486|191862|192077|192078|192193|193626|194278|194279|195216|195217|237301|256534|267852|359259|361027|410300|418814|424378|431776|432339|438037|467672|468444|469027|469027|469226|488964|489189|493639|537666|537667|551586|569886|569892|570726|578553|584376|587851|610116|612322|626263|646841|646842|646914|676976|681856|681857|694210|694219|704421|704423|704424|704425|704426|704427|704428|715777|715781|731182|756205|756208|756209|771892|771893|771894|771918|778416|785781|788916|789897|789898|789899|789900|789901|789902|789903|789904|789905|789906|789907|789908|789909|789910|790444|790445|790446|790622|790623|790624|790625|790659|791386|791387|791388|791389|791390|791839|791840|791941|791942|846355|846356|846357|846358|846359|846360|846365|846366|846367|846369|846370|846435|846436|846437|846438|846439|846440|846441|846442|846443|846444|846445|846446|846447|846448|846449|851759|938267|938268|938269|938270|938271|938272|938273|938274|938277|938278|938279|938297|938298|938299|938300|938301|938302|938303|938304|950343|950344|950345|950348|950349|950350|950351|950368|950369|950370|950371|950372|950373|950374|950375|958342|958343|958344|958346|958347|958348|958373|958374|958375|958376|958377|960253|962924|962925|962926|962927|962928|962929|962930|962931|962932|962933|962934|962935|962936|962937|962938|962939|962940|962941|962942|962943|962944|962945|962946|962947|962948|962949|962950|962951|962952|962953|962954|962955|962956|962957|962959|962960|962961|962962|962963|962964|962965|962968|963340|971541", + "upstreamId": "20026|24389|24392|24394|24396|24397|38391|76480|76620|100027|102552|104429|104431|104432|104433|104433|104436|104437|104440|104441|104442|104443|104445|104447|104447|104448|104451|104455|104456|104456|104456|104465|104467|104469|104471|104472|104474|104475|104476|104477|104479|104480|104480|104484|104491|104492|104492|104493|104494|104495|104497|104499|104500|104501|105486|105494|105510|105560|105683|105795|105802|105803|152779|177112|177374|191486|191862|192077|192078|192193|193626|194278|194279|195216|195217|237301|256534|267852|359259|361027|410300|418814|424378|431776|432339|438037|467672|468444|469027|469027|469226|488964|489189|493639|537666|537667|551586|569886|569892|570726|578553|584376|587851|610116|612322|626263|646841|646842|646914|676976|681856|681857|694210|694219|704421|704423|704424|704425|704426|704427|704428|715777|715781|731182|756205|756208|756209|771892|771893|771894|771918|778416|785781|788916|789897|789898|789899|789900|789901|789902|789903|789904|789905|789906|789907|789908|789909|789910|790444|790445|790446|790622|790623|790624|790625|790659|791386|791387|791388|791389|791390|791839|791840|791941|791942|846355|846356|846357|846358|846359|846360|846365|846366|846367|846369|846370|846435|846436|846437|846438|846439|846440|846441|846442|846443|846444|846445|846446|846447|846448|846449|851759|938267|938268|938269|938270|938271|938272|938273|938274|938277|938278|938279|938297|938298|938299|938300|938301|938302|938303|938304|950343|950344|950345|950348|950349|950350|950351|950368|950369|950370|950371|950372|950373|950374|950375|958342|958343|958344|958346|958347|958348|958373|958374|958375|958376|958377|960253|962924|962925|962926|962927|962928|962929|962930|962931|962932|962933|962934|962935|962936|962937|962938|962939|962940|962941|962942|962943|962944|962945|962946|962947|962948|962949|962950|962951|962952|962953|962954|962955|962956|962957|962959|962960|962961|962962|962963|962964|962965|962968|963340|971541", "text": "Leber congenital amaurosis 1" }, { - "baseId": "20029", + "upstreamId": "20029", "text": "Hypoadiponectinemia" }, { - "baseId": "20030", + "upstreamId": "20030", "text": "Cerebral infarction, susceptibility to" }, { - "baseId": "20031|20032|20042|132007|141425|141426|141427|141428|141429|191088|192529|195407|212979|212980|212981|212982|212983|212984|212985|212987|222200|222201|241227|241232|241234|241236|244713|244717|244719|244723|244730|244731|254399|254402|254405|267186|267827|315969|315978|315979|315980|315984|315986|315988|315989|323225|323227|323228|323237|323240|323242|323247|323248|329266|329268|329269|329271|329274|329275|329279|329281|329285|329286|330434|330446|330448|330460|330489|330490|330498|372841|374513|374528|441503|461598|462170|462180|490562|503871|511955|526642|526656|566310|571201|571206|571230|656103|869228|869229|869230|869231|869232|869233|869234|869235|869236|869237|869238|869239|869240|869241|869242|869243|869244|869245|872186", + "upstreamId": "20031|20032|20042|132007|141425|141426|141427|141428|141429|191088|192529|195407|212979|212980|212981|212982|212983|212984|212985|212987|222200|222201|241227|241232|241234|241236|244713|244717|244719|244723|244730|244731|254399|254402|254405|267186|267827|315969|315978|315979|315980|315984|315986|315988|315989|323225|323227|323228|323237|323240|323242|323247|323248|329266|329268|329269|329271|329274|329275|329279|329281|329285|329286|330434|330446|330448|330460|330489|330490|330498|372841|374513|374528|441503|461598|462170|462180|490562|503871|511955|526642|526656|566310|571201|571206|571230|656103|869228|869229|869230|869231|869232|869233|869234|869235|869236|869237|869238|869239|869240|869241|869242|869243|869244|869245|872186", "text": "Brachyrachia (short spine dysplasia)" }, { - "baseId": "20031|20032|20032|20033|20034|20035|20036|20037|33470|33471|33473|33474|33476|39425|39426|39427|39428|39429|39431|39432|39433|131989|131990|131991|131992|131994|131995|131996|131997|131998|131999|132000|132001|132002|132004|132005|132006|132007|132009|132012|132013|193539|247055|267835|268588|270886|270894|271513|310812|310813|310820|310829|310830|310831|310832|310842|310844|310848|310850|310852|310858|310859|310862|310864|310866|310868|310870|310878|310884|310887|310890|310892|310895|310899|310907|310918|310919|310928|310929|310930|310931|316068|316069|316072|316073|316074|316082|316090|316094|316099|316103|316111|316112|316114|316120|316133|316144|316148|316149|316156|316162|316169|316174|316175|316176|316177|316180|316181|316189|316190|316200|316201|316204|316205|316210|316220|316221|316223|316226|322169|322170|322172|322183|322185|322190|322191|322192|322196|322197|322199|322200|322212|322213|322218|322231|322232|322233|322236|322239|322240|322241|322242|322245|322246|322254|322260|322261|322266|322267|322274|322275|322276|322780|322783|322784|322785|322786|322789|322790|322801|322802|322803|322804|322806|322807|322808|322815|322816|322822|322831|322832|322845|322849|322876|322879|322880|322882|322887|322888|322890|322891|322892|322893|322894|322896|322900|357053|360896|485947|485949|623681|623736|623780", + "upstreamId": "20031|20032|20032|20033|20034|20035|20036|20037|33470|33471|33473|33474|33476|39425|39426|39427|39428|39429|39431|39432|39433|131989|131990|131991|131992|131994|131995|131996|131997|131998|131999|132000|132001|132002|132004|132005|132006|132007|132009|132012|132013|193539|247055|267835|268588|270886|270894|271513|310812|310813|310820|310829|310830|310831|310832|310842|310844|310848|310850|310852|310858|310859|310862|310864|310866|310868|310870|310878|310884|310887|310890|310892|310895|310899|310907|310918|310919|310928|310929|310930|310931|316068|316069|316072|316073|316074|316082|316090|316094|316099|316103|316111|316112|316114|316120|316133|316144|316148|316149|316156|316162|316169|316174|316175|316176|316177|316180|316181|316189|316190|316200|316201|316204|316205|316210|316220|316221|316223|316226|322169|322170|322172|322183|322185|322190|322191|322192|322196|322197|322199|322200|322212|322213|322218|322231|322232|322233|322236|322239|322240|322241|322242|322245|322246|322254|322260|322261|322266|322267|322274|322275|322276|322780|322783|322784|322785|322786|322789|322790|322801|322802|322803|322804|322806|322807|322808|322815|322816|322822|322831|322832|322845|322849|322876|322879|322880|322882|322887|322888|322890|322891|322892|322893|322894|322896|322900|357053|360896|485947|485949|623681|623736|623780", "text": "Skeletal dysplasia" }, { - "baseId": "20032|20033|20037|20038|20039|20040|20041|20042|33473|39426|39429|39430|48018|132007|141425|141426|141427|141428|141429|165507|191088|192529|195407|212979|212980|212981|212982|212983|212984|212985|212986|212987|222200|222201|222202|231824|231825|237347|241227|241228|241229|241230|241231|241232|241233|241234|241235|241236|244713|244714|244716|244717|244719|244723|244724|244726|244729|244730|244731|244732|254399|254402|254404|254405|267186|267827|268612|315969|315978|315979|315980|315984|315986|315988|315989|323225|323227|323228|323237|323240|323242|323247|323248|329266|329268|329269|329271|329274|329275|329279|329281|329285|329286|330434|330446|330448|330460|330489|330490|330498|372541|372840|372841|374513|374517|374528|374550|374553|398428|398517|398521|398522|398806|398816|398944|398946|398949|398951|408511|408513|408515|421897|433993|433994|441499|441501|441502|441503|441504|444909|461596|461598|461602|461605|461607|461814|461825|461826|461836|462170|462172|462180|462404|462407|462409|482007|486086|490562|503842|503843|503871|503872|504116|504518|511955|511956|511960|511961|526640|526642|526644|526645|526646|526647|526651|526652|526653|526656|526658|526659|526660|526663|526664|526665|526669|526896|526899|526901|526906|526913|527214|527218|527221|527223|527225|527226|527230|565036|565038|565041|566310|566311|566317|567647|567649|567653|567658|567662|571188|571197|571201|571203|571206|571208|571230|571233|571244|571249|581868|640606|640607|640608|640609|640610|640611|640612|640613|640614|640615|640616|640617|640618|640619|640620|640621|640622|640623|640624|640625|640626|640627|640628|640629|640630|640631|640632|656103|672086|684278|684281|684282|687866|687871|724880|768882|784269|792686|839270|839271|839272|839273|839274|839275|839276|839277|839278|839279|839280|839281|839282|839283|839284|839285|839286|839287|839288|839289|839290|869228|869229|869230|869231|869232|869233|869234|869235|869236|869237|869238|869239|869240|869241|869242|869243|869244|869245|872186|919405|919406|919407|920307|920308|926456|926457|926458|926459|926460|926461|926462|926463|935906|935907|935908|935909|935910|935911|935912|935913|941021|947776|947777|947778|947779|947780|947781|956744|956745|960773", + "upstreamId": "20032|20033|20037|20038|20039|20040|20041|20042|33473|39426|39429|39430|48018|132007|141425|141426|141427|141428|141429|165507|191088|192529|195407|212979|212980|212981|212982|212983|212984|212985|212986|212987|222200|222201|222202|231824|231825|237347|241227|241228|241229|241230|241231|241232|241233|241234|241235|241236|244713|244714|244716|244717|244719|244723|244724|244726|244729|244730|244731|244732|254399|254402|254404|254405|267186|267827|268612|315969|315978|315979|315980|315984|315986|315988|315989|323225|323227|323228|323237|323240|323242|323247|323248|329266|329268|329269|329271|329274|329275|329279|329281|329285|329286|330434|330446|330448|330460|330489|330490|330498|372541|372840|372841|374513|374517|374528|374550|374553|398428|398517|398521|398522|398806|398816|398944|398946|398949|398951|408511|408513|408515|421897|433993|433994|441499|441501|441502|441503|441504|444909|461596|461598|461602|461605|461607|461814|461825|461826|461836|462170|462172|462180|462404|462407|462409|482007|486086|490562|503842|503843|503871|503872|504116|504518|511955|511956|511960|511961|526640|526642|526644|526645|526646|526647|526651|526652|526653|526656|526658|526659|526660|526663|526664|526665|526669|526896|526899|526901|526906|526913|527214|527218|527221|527223|527225|527226|527230|565036|565038|565041|566310|566311|566317|567647|567649|567653|567658|567662|571188|571197|571201|571203|571206|571208|571230|571233|571244|571249|581868|640606|640607|640608|640609|640610|640611|640612|640613|640614|640615|640616|640617|640618|640619|640620|640621|640622|640623|640624|640625|640626|640627|640628|640629|640630|640631|640632|656103|672086|684278|684281|684282|687866|687871|724880|768882|784269|792686|839270|839271|839272|839273|839274|839275|839276|839277|839278|839279|839280|839281|839282|839283|839284|839285|839286|839287|839288|839289|839290|869228|869229|869230|869231|869232|869233|869234|869235|869236|869237|869238|869239|869240|869241|869242|869243|869244|869245|872186|919405|919406|919407|920307|920308|926456|926457|926458|926459|926460|926461|926462|926463|935906|935907|935908|935909|935910|935911|935912|935913|941021|947776|947777|947778|947779|947780|947781|956744|956745|960773", "text": "Charcot-Marie-Tooth disease axonal type 2C" }, { - "baseId": "20033|20034|20035|20042|33473|33474|132007|141425|141426|141427|141428|141429|191088|192529|195407|212979|212980|212981|212982|212983|212984|212985|212987|222200|222201|241227|241232|241234|241236|244713|244717|244719|244723|244730|244731|254399|254402|254405|267186|267827|315969|315978|315979|315980|315984|315986|315988|315989|323225|323227|323228|323237|323240|323242|323247|323248|329266|329268|329269|329271|329274|329275|329279|329281|329285|329286|330434|330446|330448|330460|330489|330490|330498|372841|374513|374528|426720|441503|461598|462170|462180|490562|503871|511955|526642|526656|566310|571201|571206|571230|656103|869228|869229|869230|869231|869232|869233|869234|869235|869236|869237|869238|869239|869240|869241|869242|869243|869244|869245|872186", + "upstreamId": "20033|20034|20035|20042|33473|33474|132007|141425|141426|141427|141428|141429|191088|192529|195407|212979|212980|212981|212982|212983|212984|212985|212987|222200|222201|241227|241232|241234|241236|244713|244717|244719|244723|244730|244731|254399|254402|254405|267186|267827|315969|315978|315979|315980|315984|315986|315988|315989|323225|323227|323228|323237|323240|323242|323247|323248|329266|329268|329269|329271|329274|329275|329279|329281|329285|329286|330434|330446|330448|330460|330489|330490|330498|372841|374513|374528|426720|441503|461598|462170|462180|490562|503871|511955|526642|526656|566310|571201|571206|571230|656103|869228|869229|869230|869231|869232|869233|869234|869235|869236|869237|869238|869239|869240|869241|869242|869243|869244|869245|872186", "text": "Spondylometaphyseal dysplasia, Kozlowski type" }, { - "baseId": "20033|20037", + "upstreamId": "20033|20037", "text": "Parastremmatic dwarfism" }, { - "baseId": "20036|20037|20042|33469|33470|33471|33472|33474|39427|39428|39431|39432|39433|132000|132007|141425|141426|141427|141428|141429|191088|192529|195407|212979|212980|212981|212982|212983|212984|212985|212987|222200|222201|241227|241232|241234|241236|244713|244717|244719|244723|244730|244731|254399|254402|254405|267186|267827|315969|315978|315979|315980|315984|315986|315988|315989|323225|323227|323228|323237|323240|323242|323247|323248|329266|329268|329269|329271|329273|329274|329275|329279|329281|329285|329286|330434|330446|330448|330460|330489|330490|330498|353209|356978|372841|374513|374528|441503|461598|462170|462180|490562|503871|511955|526642|526656|566310|571201|571206|571230|656103|822331|869228|869229|869230|869231|869232|869233|869234|869235|869236|869237|869238|869239|869240|869241|869242|869243|869244|869245|872186", + "upstreamId": "20036|20037|20042|33469|33470|33471|33472|33474|39427|39428|39431|39432|39433|132000|132007|141425|141426|141427|141428|141429|191088|192529|195407|212979|212980|212981|212982|212983|212984|212985|212987|222200|222201|241227|241232|241234|241236|244713|244717|244719|244723|244730|244731|254399|254402|254405|267186|267827|315969|315978|315979|315980|315984|315986|315988|315989|323225|323227|323228|323237|323240|323242|323247|323248|329266|329268|329269|329271|329273|329274|329275|329279|329281|329285|329286|330434|330446|330448|330460|330489|330490|330498|353209|356978|372841|374513|374528|441503|461598|462170|462180|490562|503871|511955|526642|526656|566310|571201|571206|571230|656103|822331|869228|869229|869230|869231|869232|869233|869234|869235|869236|869237|869238|869239|869240|869241|869242|869243|869244|869245|872186", "text": "Metatrophic dysplasia" }, { - "baseId": "20037|33474|33475|33476|39425", + "upstreamId": "20037|33474|33475|33476|39425", "text": "Spondyloepiphyseal dysplasia Maroteaux type" }, { - "baseId": "20038|20039|20041|20042|39429|48018|132007|141425|141426|141427|141428|141429|191088|192529|195407|212979|212980|212981|212982|212983|212984|212985|212987|222200|222201|241227|241232|241234|241236|244713|244717|244719|244723|244730|244731|254399|254402|254405|267186|267827|315969|315978|315979|315980|315984|315986|315988|315989|323225|323227|323228|323237|323240|323242|323247|323248|329266|329268|329269|329271|329273|329274|329275|329279|329281|329285|329286|330434|330446|330448|330460|330489|330490|330498|353209|372841|374513|374528|441503|461598|462170|462180|490562|503871|511955|526642|526656|566310|571201|571206|571230|656103|869228|869229|869230|869231|869232|869233|869234|869235|869236|869237|869238|869239|869240|869241|869242|869243|869244|869245|872186", + "upstreamId": "20038|20039|20041|20042|39429|48018|132007|141425|141426|141427|141428|141429|191088|192529|195407|212979|212980|212981|212982|212983|212984|212985|212987|222200|222201|241227|241232|241234|241236|244713|244717|244719|244723|244730|244731|254399|254402|254405|267186|267827|315969|315978|315979|315980|315984|315986|315988|315989|323225|323227|323228|323237|323240|323242|323247|323248|329266|329268|329269|329271|329273|329274|329275|329279|329281|329285|329286|330434|330446|330448|330460|330489|330490|330498|353209|372841|374513|374528|441503|461598|462170|462180|490562|503871|511955|526642|526656|566310|571201|571206|571230|656103|869228|869229|869230|869231|869232|869233|869234|869235|869236|869237|869238|869239|869240|869241|869242|869243|869244|869245|872186", "text": "Distal spinal muscular atrophy, congenital nonprogressive" }, { - "baseId": "20038|20040|20041|20042|132007|141425|141426|141427|141428|141429|191088|192529|195407|212979|212980|212981|212982|212983|212984|212985|212987|222200|222201|241227|241232|241234|241236|244713|244717|244719|244723|244730|244731|254399|254402|254405|267186|267827|315969|315978|315979|315980|315984|315986|315988|315989|323225|323227|323228|323237|323240|323242|323247|323248|329266|329268|329269|329271|329273|329274|329275|329279|329281|329285|329286|330434|330446|330448|330460|330489|330490|330498|353209|372841|374513|374528|441503|461598|462170|462180|490562|503871|511955|526642|526656|566310|571201|571206|571230|656103|869228|869229|869230|869231|869232|869233|869234|869235|869236|869237|869238|869239|869240|869241|869242|869243|869244|869245|872186", + "upstreamId": "20038|20040|20041|20042|132007|141425|141426|141427|141428|141429|191088|192529|195407|212979|212980|212981|212982|212983|212984|212985|212987|222200|222201|241227|241232|241234|241236|244713|244717|244719|244723|244730|244731|254399|254402|254405|267186|267827|315969|315978|315979|315980|315984|315986|315988|315989|323225|323227|323228|323237|323240|323242|323247|323248|329266|329268|329269|329271|329273|329274|329275|329279|329281|329285|329286|330434|330446|330448|330460|330489|330490|330498|353209|372841|374513|374528|441503|461598|462170|462180|490562|503871|511955|526642|526656|566310|571201|571206|571230|656103|869228|869229|869230|869231|869232|869233|869234|869235|869236|869237|869238|869239|869240|869241|869242|869243|869244|869245|872186", "text": "Scapuloperoneal spinal muscular atrophy" }, { - "baseId": "20038|20040|24157|38987|39429|70511|191531|196476|200698|208054|214089|214090|231826|236923|244863|311334|461638|511936|513441|552170|574098|611754|625144|625198|625199|625200|625206|625207|625212|625213|625214|625215|625216|625221|625224|625226|625227|625229|625230|625231|625237|625238|625239|625241|625242|625243|625247|625249|625253|625255|625256|625257|625286|625287|625288|625289|625290|625291|625293|625750|682999|683011|683037|683051", + "upstreamId": "20038|20040|24157|38987|39429|70511|191531|196476|200698|208054|214089|214090|231826|236923|244863|311334|461638|511936|513441|552170|574098|611754|625144|625198|625199|625200|625206|625207|625212|625213|625214|625215|625216|625221|625224|625226|625227|625229|625230|625231|625237|625238|625239|625241|625242|625243|625247|625249|625253|625255|625256|625257|625286|625287|625288|625289|625290|625291|625293|625750|682999|683011|683037|683051", "text": "Autosomal dominant distal hereditary motor neuropathy" }, { - "baseId": "20039|27395|27405|27413|27626|28302|28307|28311|28312|28316|29525|32803|39040|50121|77694|79530|133150|133152|133267|133281|134137|151478|178432|203922|226498|242984|263188|263196|263199|263201|263205|263299|263383|263387|263414|360818|360983|361713|363664|398806|402557|408516|420656|441499|444566|459906|465352|479292|480668|511956|513938|513998|513999|514018|565041|569547|590039|590051|590052|590059|590064|590065|590089|615889|792641|792642|917822", + "upstreamId": "20039|27395|27405|27413|27626|28302|28307|28311|28312|28316|29525|32803|39040|50121|77694|79530|133150|133152|133267|133281|134137|151478|178432|203922|226498|242984|263188|263196|263199|263201|263205|263299|263383|263387|263414|360818|360983|361713|363664|398806|402557|408516|420656|441499|444566|459906|465352|479292|480668|511956|513938|513998|513999|514018|565041|569547|590039|590051|590052|590059|590064|590065|590089|615889|792641|792642|917822", "text": "11 conditions" }, { - "baseId": "20042", + "upstreamId": "20042", "text": "Sodium serum level quantitative trait locus 1" }, { - "baseId": "20043|20044|20045|20046|20047|20048", + "upstreamId": "20043|20044|20045|20046|20047|20048", "text": "Erythrokeratodermia variabilis et progressiva 2" }, { - "baseId": "20049|551459|969318|969319|969320", + "upstreamId": "20049|551459|969318|969319|969320", "text": "46,XY gonadal dysgenesis, partial, with minifascicular neuropathy" }, { - "baseId": "20050|20051|260443|331436|462246|463136|552293|552294|552295|552296|702337|702338|926652|936145", + "upstreamId": "20050|20051|260443|331436|462246|463136|552293|552294|552295|552296|702337|702338|926652|936145", "text": "46,XY sex reversal, type 7" }, { - "baseId": "20052|20053|20054|20055|20056|20057|20058|165647|165649|314060|314062|314063|314064|314068|314070|314071|314075|314077|314081|314087|314095|314096|314097|314098|314114|314116|320528|320529|320537|320540|320541|320550|320551|320562|320563|320568|320569|320571|320573|320574|320578|320579|320584|320585|320586|320587|320591|320593|320597|320598|320599|320611|320621|320622|320633|320635|320636|320646|326505|326514|326543|326547|326550|326551|326553|326554|326556|326564|326567|326570|326571|326579|326580|326582|326587|326589|326594|326597|326606|326607|326611|326613|326614|326615|326638|326643|326658|326659|326661|326667|326671|327548|327550|327551|327558|327559|327560|327565|327566|327567|327574|327590|327591|327592|327610|327611|327619|327621|327623|327639|327640|327656|327669|327672|620401|701767|724439|737974|737977|737979|867959|867960|867961|867962|867963|867964|867965|867966|867967|867968|867969|867970|867971|867972|867973|867974|867975|867976|867977|867978|867979|867980|867981|867982|867983|867984|867985|867986|867987|867988|867989|867990|867991|867992|867993|867994|867995|867996|867997|867998|867999|868000|868001|868002|868003|868004|868005", + "upstreamId": "20052|20053|20054|20055|20056|20057|20058|165647|165649|314060|314062|314063|314064|314068|314070|314071|314075|314077|314081|314087|314095|314096|314097|314098|314114|314116|320528|320529|320537|320540|320541|320550|320551|320562|320563|320568|320569|320571|320573|320574|320578|320579|320584|320585|320586|320587|320591|320593|320597|320598|320599|320611|320621|320622|320633|320635|320636|320646|326505|326514|326543|326547|326550|326551|326553|326554|326556|326564|326567|326570|326571|326579|326580|326582|326587|326589|326594|326597|326606|326607|326611|326613|326614|326615|326638|326643|326658|326659|326661|326667|326671|327548|327550|327551|327558|327559|327560|327565|327566|327567|327574|327590|327591|327592|327610|327611|327619|327621|327623|327639|327640|327656|327669|327672|620401|701767|724439|737974|737977|737979|867959|867960|867961|867962|867963|867964|867965|867966|867967|867968|867969|867970|867971|867972|867973|867974|867975|867976|867977|867978|867979|867980|867981|867982|867983|867984|867985|867986|867987|867988|867989|867990|867991|867992|867993|867994|867995|867996|867997|867998|867999|868000|868001|868002|868003|868004|868005", "text": "Parietal foramina 2" }, { - "baseId": "20059|165648|188208|227446|361726|578491", + "upstreamId": "20059|165648|188208|227446|361726|578491", "text": "Frontonasal dysplasia 2" }, { - "baseId": "20060|20061|27640|28939|29005|204981|204982|204983|551403|919462", + "upstreamId": "20060|20061|27640|28939|29005|204981|204982|204983|551403|919462", "text": "Thyroid cancer, nonmedullary, 2" }, { - "baseId": "20062", + "upstreamId": "20062", "text": "Thyroid adenoma (disease)" }, { - "baseId": "20063|359552|360867", + "upstreamId": "20063|359552|360867", "text": "Increased IgE level" }, { - "baseId": "20064|20065|44798|44799|317089|317097|317111|317112|317114|317117|317119|317121|324838|324841|324849|324850|324851|324855|324899|330944|330946|330951|330952|330960|330962|331027|332428|332431|332436|332452|332453|332459|332462|332466|332473|332563|577261|738637|869801|869802|869803|869804|869805|869806|869807|869808|869809|869810|869811|869812|869813|869814|869815|869816|869842|869843|869844|869845|872242", + "upstreamId": "20064|20065|44798|44799|317089|317097|317111|317112|317114|317117|317119|317121|324838|324841|324849|324850|324851|324855|324899|330944|330946|330951|330952|330960|330962|331027|332428|332431|332436|332452|332453|332459|332462|332466|332473|332563|577261|738637|869801|869802|869803|869804|869805|869806|869807|869808|869809|869810|869811|869812|869813|869814|869815|869816|869842|869843|869844|869845|872242", "text": "Autosomal dominant hypophosphatemic rickets" }, { - "baseId": "20066|20385|22830|22831|22832|22833|22834|22835|22836|22837|22838|22839|22840|22841|22842|192386|282414|282415|282421|282426|282428|283097|283100|283101|283103|283104|283105|283106|283107|284674|284687|284700|284701|284703|285130|285138|285139|285151|285152|285158|285159|437705|437706|552053|610988|697129|707819|707820|791342|881305|881306|881307|881308|881309|881310|881311|881312|881313|881314|881315|881316|881317|881318|881319|881320|881321|882820|882821|920603", + "upstreamId": "20066|20385|22830|22831|22832|22833|22834|22835|22836|22837|22838|22839|22840|22841|22842|192386|282414|282415|282421|282426|282428|283097|283100|283101|283103|283104|283105|283106|283107|284674|284687|284700|284701|284703|285130|285138|285139|285151|285152|285158|285159|437705|437706|552053|610988|697129|707819|707820|791342|881305|881306|881307|881308|881309|881310|881311|881312|881313|881314|881315|881316|881317|881318|881319|881320|881321|882820|882821|920603", "text": "Hyperphosphatemic familial tumoral calcinosis 1" }, { - "baseId": "20066|20067|20068|317089|317097|317111|317112|317114|317117|317119|317121|324838|324841|324849|324850|324851|324855|324899|330944|330946|330951|330952|330960|330962|331027|332428|332431|332436|332452|332453|332459|332462|332466|332473|332563|577261|738637|869801|869802|869803|869804|869805|869806|869807|869808|869809|869810|869811|869812|869813|869814|869815|869816|869842|869843|869844|869845|872242|919432", + "upstreamId": "20066|20067|20068|317089|317097|317111|317112|317114|317117|317119|317121|324838|324841|324849|324850|324851|324855|324899|330944|330946|330951|330952|330960|330962|331027|332428|332431|332436|332452|332453|332459|332462|332466|332473|332563|577261|738637|869801|869802|869803|869804|869805|869806|869807|869808|869809|869810|869811|869812|869813|869814|869815|869816|869842|869843|869844|869845|872242|919432", "text": "Tumoral calcinosis, hyperphosphatemic, familial, 2" }, { - "baseId": "20066|213620|282435|283098|285137|317102|317118|319404|324857|324859|330949|332440|332445", + "upstreamId": "20066|213620|282435|283098|285137|317102|317118|319404|324857|324859|330949|332440|332445", "text": "Tumoral calcinosis, hyperphosphatemic, familial" }, { - "baseId": "20069|20070|20072|20073|20074|20075|20076|20077|134577|167388|167392|167397|231987|245008|245009|255895|255896|255897|260130|273694|326427|326428|326432|326439|326440|326444|326447|326448|326450|326451|326453|326454|326456|326458|326460|336169|336170|336171|336176|336177|336179|336183|336184|336186|336187|336191|336194|336197|336198|336199|336208|336209|336211|336221|336222|336224|336225|336229|342431|342433|342435|342443|342446|342449|342450|342451|342454|342456|342457|342458|342459|342460|342462|342463|342465|344079|344081|344083|344084|344087|344088|344089|344090|344091|344092|344093|344099|344100|344102|344103|344116|344119|344122|344124|344126|344130|361521|375489|375682|415513|466024|466032|466035|466036|466038|466757|466758|466762|466763|466778|466794|466798|466802|467038|467046|467047|467067|467069|506512|512228|530309|530312|530313|530315|530371|530372|530381|530383|530400|530402|530569|530571|530573|530575|530577|530581|530792|530794|537264|552190|568377|568387|568391|568399|568402|570504|570506|570508|570511|570558|570559|570561|570564|570571|570572|570660|574175|574176|574177|574178|581728|590028|622435|625316|625317|625318|625319|625320|625321|625322|625323|625324|625325|625326|625327|625328|625329|625330|625331|625333|625334|625335|625336|625337|625338|625339|625340|625341|625342|625343|625344|625345|625346|625347|625348|625350|625351|625352|625354|625355|625356|625357|625358|625359|625360|625760|625761|645009|645010|645011|645012|645013|645014|645015|645016|645017|645018|645019|645020|645021|645022|645023|645024|645025|645026|645027|645028|645029|652757|653065|677453|688666|693935|693937|693938|693939|715097|715098|760518|771079|780051|785390|785392|820887|844368|844369|844370|844371|844372|844373|844374|844375|844376|844377|844378|844379|844380|844381|844382|844383|844384|844385|844386|844387|851683|852831|861664|876008|876009|876010|876011|876012|876013|876014|876015|876016|876017|876018|876019|876020|876021|876022|876023|876024|876025|876026|876027|876028|876029|876030|876031|876032|876033|876034|876722|927965|927966|927967|937629|937630|937631|937632|941146|941147|949595|949596|949597|949598|949599|949600|949601|957888|957889|957890|957891|957892|957893|957894", + "upstreamId": "20069|20070|20072|20073|20074|20075|20076|20077|134577|167388|167392|167397|231987|245008|245009|255895|255896|255897|260130|273694|326427|326428|326432|326439|326440|326444|326447|326448|326450|326451|326453|326454|326456|326458|326460|336169|336170|336171|336176|336177|336179|336183|336184|336186|336187|336191|336194|336197|336198|336199|336208|336209|336211|336221|336222|336224|336225|336229|342431|342433|342435|342443|342446|342449|342450|342451|342454|342456|342457|342458|342459|342460|342462|342463|342465|344079|344081|344083|344084|344087|344088|344089|344090|344091|344092|344093|344099|344100|344102|344103|344116|344119|344122|344124|344126|344130|361521|375489|375682|415513|466024|466032|466035|466036|466038|466757|466758|466762|466763|466778|466794|466798|466802|467038|467046|467047|467067|467069|506512|512228|530309|530312|530313|530315|530371|530372|530381|530383|530400|530402|530569|530571|530573|530575|530577|530581|530792|530794|537264|552190|568377|568387|568391|568399|568402|570504|570506|570508|570511|570558|570559|570561|570564|570571|570572|570660|574175|574176|574177|574178|581728|590028|622435|625316|625317|625318|625319|625320|625321|625322|625323|625324|625325|625326|625327|625328|625329|625330|625331|625333|625334|625335|625336|625337|625338|625339|625340|625341|625342|625343|625344|625345|625346|625347|625348|625350|625351|625352|625354|625355|625356|625357|625358|625359|625360|625760|625761|645009|645010|645011|645012|645013|645014|645015|645016|645017|645018|645019|645020|645021|645022|645023|645024|645025|645026|645027|645028|645029|652757|653065|677453|688666|693935|693937|693938|693939|715097|715098|760518|771079|780051|785390|785392|820887|844368|844369|844370|844371|844372|844373|844374|844375|844376|844377|844378|844379|844380|844381|844382|844383|844384|844385|844386|844387|851683|852831|861664|876008|876009|876010|876011|876012|876013|876014|876015|876016|876017|876018|876019|876020|876021|876022|876023|876024|876025|876026|876027|876028|876029|876030|876031|876032|876033|876034|876722|927965|927966|927967|937629|937630|937631|937632|941146|941147|949595|949596|949597|949598|949599|949600|949601|957888|957889|957890|957891|957892|957893|957894", "text": "Giant axonal neuropathy 1" }, { - "baseId": "20078|20079|20080|20081|20083|20084|20085|20086|20087|133700|133701|198632|260025|260027|260029|317931|317932|317936|317940|317944|317946|317949|317953|325845|325871|325873|325875|325876|325879|325880|325881|332094|332097|332098|332100|332101|332102|333560|333563|333564|333566|333567|333582|333586|333590|417444|611346|620445|620850|626315|753483|784425|870160|870161|870162|870163|870164|870165|870166|870167|870168|870169|872265|872266|872267", + "upstreamId": "20078|20079|20080|20081|20083|20084|20085|20086|20087|133700|133701|198632|260025|260027|260029|317931|317932|317936|317940|317944|317946|317949|317953|325845|325871|325873|325875|325876|325879|325880|325881|332094|332097|332098|332100|332101|332102|333560|333563|333564|333566|333567|333582|333586|333590|417444|611346|620445|620850|626315|753483|784425|870160|870161|870162|870163|870164|870165|870166|870167|870168|870169|872265|872266|872267", "text": "Glucocorticoid deficiency with achalasia" }, { - "baseId": "20084|20699|33187|51184|360842|360970|360971|361043|402131|676961|961430|962129|962130|964663", + "upstreamId": "20084|20699|33187|51184|360842|360970|360971|361043|402131|676961|961430|962129|962130|964663", "text": "Spastic paraparesis" }, { - "baseId": "20084", + "upstreamId": "20084", "text": "Babinski sign" }, { - "baseId": "20084|360839", + "upstreamId": "20084|360839", "text": "Hyperreflexia" }, { - "baseId": 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+ "upstreamId": 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"text": "Steinert myotonic dystrophy syndrome" }, { - "baseId": 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+ "upstreamId": 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"text": "Heterotopia, periventricular, autosomal recessive" }, { - "baseId": "20094|20095|20096|20097|20098|227386", + "upstreamId": "20094|20095|20096|20097|20098|227386", "text": "Prostate cancer, hereditary, 2" }, { - "baseId": 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+ "upstreamId": 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"text": "Obesity" }, { - "baseId": "20101", + "upstreamId": "20101", "text": "Obesity, age at onset of" }, { - "baseId": "20103", + "upstreamId": "20103", "text": "GHRELIN POLYMORPHISM" }, { - "baseId": "20104", + "upstreamId": "20104", "text": "Hemolytic uremic syndrome, atypical, susceptibility to" }, { - "baseId": "20104", + "upstreamId": "20104", "text": "Age-related macular degeneration" }, { - "baseId": "20105|33313", + "upstreamId": "20105|33313", "text": "Hypertension, salt-sensitive essential, susceptibility to" }, { - "baseId": 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+ "upstreamId": 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"text": "Speech-language disorder 1" }, { - "baseId": "20108|20109|265637|267757|268455|508782|614083|614084|614085|790215|969294|970738", + "upstreamId": "20108|20109|265637|267757|268455|508782|614083|614084|614085|790215|969294|970738", "text": "Chromosome 2q37 deletion syndrome" }, { - "baseId": 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+ "upstreamId": 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"text": "Macular corneal dystrophy" }, { - "baseId": "20112|20113|20114|20118", + "upstreamId": "20112|20113|20114|20118", "text": "Macular corneal dystrophy, type II" }, { - "baseId": 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"upstreamId": 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"Dominant hereditary optic atrophy" }, { - "baseId": "20121|59852|59852|210979|227007|227008|227009|294184|493528|918822|918823|918824|918825|961599", + "upstreamId": "20121|59852|59852|210979|227007|227008|227009|294184|493528|918822|918823|918824|918825|961599", "text": "Abortive cerebellar ataxia" }, { - "baseId": "20129|20130|20131|39417|39418|39419|39420|59852|198617|210979|227006|294184|428165|679822|961599|970142", + "upstreamId": "20129|20130|20131|39417|39418|39419|39420|59852|198617|210979|227006|294184|428165|679822|961599|970142", "text": "Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy" }, { - "baseId": "20135", + "upstreamId": "20135", "text": "Polycystic ovary syndrome, susceptibility to" }, { - "baseId": 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"text": "Tuberous sclerosis syndrome" }, { - "baseId": 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+ "upstreamId": 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"text": "Focal cortical dysplasia type II" }, { - "baseId": "20141|27432|27435|27435|27436|27436|27439|27441|50133|50139|50179|50187|50187|57953|57958|58047|58133|58168|58178|58208|58245|58280|58324|58324|58374|58426|58434|58530|58548|58564|58633|58666|58668|58684|58701|58735|58784|58805|58843|58846|58847|58899|58930|58980|59057|59077|59085|59092|59099|59105|59113|59119|59193|59203|59249|59293|59301|59308|59334|76006|76049|76066|76103|76128|76133|76156|76161|76206|151694|184112|203109|203117|203163|242231|242299|242310|342264|360985|360986|397181|400793|400979|401383|401474|401549|422079|459111|465350|465841|465939|466003|474886|529560|529578|529973|539064|569681|614337|614413|614414|614415|614416|614417|614418|816331|816332|816333|919194|919195|919615|919616|919617|919618|920352|920353|920354|920355", + "upstreamId": "20141|27432|27435|27435|27436|27436|27439|27441|50133|50139|50179|50187|50187|57953|57958|58047|58133|58168|58178|58208|58245|58280|58324|58324|58374|58426|58434|58530|58548|58564|58633|58666|58668|58684|58701|58735|58784|58805|58843|58846|58847|58899|58930|58980|59057|59077|59085|59092|59099|59105|59113|59119|59193|59203|59249|59293|59301|59308|59334|76006|76049|76066|76103|76128|76133|76156|76161|76206|151694|184112|203109|203117|203163|242231|242299|242310|342264|360985|360986|397181|400793|400979|401383|401474|401549|422079|459111|465350|465841|465939|466003|474886|529560|529578|529973|539064|569681|614337|614413|614414|614415|614416|614417|614418|816331|816332|816333|919194|919195|919615|919616|919617|919618|920352|920353|920354|920355", "text": "Lymphangiomyomatosis" }, { - "baseId": "20142", + "upstreamId": "20142", "text": "Focal cortical dysplasia of Taylor type 2B" }, { - "baseId": "20145|31559", + "upstreamId": "20145|31559", "text": "Venous thrombosis, susceptibility to" }, { - "baseId": "20147", + "upstreamId": "20147", "text": "Abnormality of carbohydrate metabolism/homeostasis" }, { - "baseId": "20158|512867|512952|539067|715151", + "upstreamId": "20158|512867|512952|539067|715151", "text": "Huntington disease-like 2" }, { - "baseId": "20159|20160|136545|142136|142137|186089|212631|215728|221754|221755|240234|244509|253060|304377|304394|304399|304405|304406|304416|304420|308109|308110|308128|308130|308131|308140|308146|308147|313131|313140|313142|313152|313153|313161|313166|313171|313173|313189|313191|313192|313197|313205|313208|313217|313218|313227|313228|313229|313233|313234|313235|313237|313246|313255|369372|369375|369726|395913|395915|441171|457231|502296|502593|523291|523299|523642|561956|564664|636612|677279|683978|683979|687189|687193|689906|695378|789373|898990|898991|898992|898993|898994|898995|898996|898997|898998|898999|899000|899001|899002|899003|899004|899005|899006|899007|899008|899009|899010|899011|899012|899013|899014|899015|899016|899017|981615", + "upstreamId": 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"20161|20162|20163|20164|20165|20166|20167|20168|20169|44320|44321|132549|132550|132551|132552|254729|254730|266805|318530|318531|318532|318536|318537|318552|318553|326720|326736|326737|326738|326740|326751|326755|326756|332928|332930|332932|332934|332939|332941|332949|332956|334605|334606|334613|334621|334623|334625|334626|334628|334629|334635|372576|462499|463236|463240|487616|527904|527907|565730|567072|568175|572071|609861|641399|641400|641401|641402|652271|713768|791279|792789|820524|840302|840303|840304|840305|840306|870473|870474|870475|870476|870477|870478|870479|870480|870481|870482|870483|870484|870485|870486|870487|870488|870489|870490|872294|926740|926741|936276|948170|948171|956954", "text": "Hyper-IgM syndrome type 2" }, { - "baseId": 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+ "upstreamId": 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"text": "Mucolipidosis type IV" }, { - "baseId": 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+ "upstreamId": "20179|20180|20181|20182|20182|20183|20184|20185|20185|20187|20188|48026|48026|48027|48028|54592|54593|54594|57135|57138|57139|57140|57141|57144|57154|57157|57157|57158|57159|57160|57161|57162|57162|57165|57166|57166|57167|57168|57170|57171|57173|57174|57176|57178|57179|57182|57182|57183|57185|57187|57189|89181|97446|175675|175676|175676|175678|175679|175679|175683|175685|175686|175687|175688|175813|175815|175825|175826|175827|175828|191397|193578|195346|214845|230023|230025|230025|230026|230027|230031|230032|230033|230035|230036|230036|238049|254070|269355|313423|313426|313427|313432|313458|319529|319530|319531|319552|325666|325667|325674|325676|325679|325683|325686|325691|325699|325709|325739|326704|326707|326722|326730|326732|357961|357962|413306|431752|431753|444756|491719|491837|492015|497372|497592|545944|545946|545948|545949|545958|545960|545961|545962|545963|545964|545968|545970|545971|545973|545973|545987|546222|546222|546224|546225|546234|546238|546241|546242|546244|546247|546255|546255|546256|546258|546265|546266|546352|546359|546360|546362|546364|546370|546373|546376|546380|546383|546384|546386|546388|546390|546396|546405|546406|546407|546409|546529|546532|546533|546543|546551|546555|546557|546559|546562|546575|546579|546584|546588|546592|546602|546608|546610|546615|546616|546623|546624|546626|737895|752588|752591|768357|768361|775646|783958|783961|838138|838144|867636|867637|867638|867639|867640|867641|867642|867643|867644|867645|867646|867647|867648|867656|867666|867667|868630|868631|868632|978950|978951|978952|978953|978954|978955|978956|978957|978958|978959|978960|978961|978962|978963|978964|978965|978966|978967", "text": "Usher syndrome, type 1C" }, { - "baseId": "20180|20182|20182|20185|20185|20186|20187|48026|48026|57144|57154|57157|57158|57162|57165|57166|57168|57173|57174|57182|57183|89181|97446|175676|175678|175679|175683|175687|175813|191397|193578|230023|230025|230026|230027|230031|230033|230035|230036|238049|357961|357962|389918|413306|431752|431753|444756|491837|545944|545946|545948|545949|545958|545960|545961|545962|545963|545964|545968|545970|545971|545973|545987|546222|546224|546225|546234|546238|546241|546242|546244|546247|546255|546256|546258|546265|546266|546352|546359|546360|546362|546364|546370|546373|546376|546380|546383|546384|546386|546388|546390|546396|546405|546406|546407|546409|546529|546532|546533|546543|546551|546555|546557|546559|546562|546575|546579|546584|546588|546592|546602|546608|546610|546615|546616|546623|546624|546626|590301|615813|615840", + "upstreamId": "20180|20182|20182|20185|20185|20186|20187|48026|48026|57144|57154|57157|57158|57162|57165|57166|57168|57173|57174|57182|57183|89181|97446|175676|175678|175679|175683|175687|175813|191397|193578|230023|230025|230026|230027|230031|230033|230035|230036|238049|357961|357962|389918|413306|431752|431753|444756|491837|545944|545946|545948|545949|545958|545960|545961|545962|545963|545964|545968|545970|545971|545973|545987|546222|546224|546225|546234|546238|546241|546242|546244|546247|546255|546256|546258|546265|546266|546352|546359|546360|546362|546364|546370|546373|546376|546380|546383|546384|546386|546388|546390|546396|546405|546406|546407|546409|546529|546532|546533|546543|546551|546555|546557|546559|546562|546575|546579|546584|546588|546592|546602|546608|546610|546615|546616|546623|546624|546626|590301|615813|615840", "text": "Deafness, autosomal recessive 18" }, { - "baseId": "20189|20190|20191|20192|20193|20194|20195|20196|20197|20198|252627|252628|252629|252631|252632|301965|301967|301968|301970|301971|301977|301984|301986|301990|305095|305131|305143|305144|305153|305157|305158|305159|305160|305162|305164|305167|305170|305177|309792|309812|309813|309814|309816|309817|309838|309839|309840|309853|309874|309955|309962|309967|309972|309986|309987|309995|309996|369507|539006|612089|620252|620253|623297|699869|699870|710803|735973|750443|759551|790696|790697|790698|790699|897521|897522|897523|897524|897525|897526|897527|897528|897529|897530|897531|897532|897533|897534|897535|897536|897537|897538|897539|897540|897541|897542|897543|897544|897545|900314|900315|900316|900317|900318|900319|961850|965422", + "upstreamId": "20189|20190|20191|20192|20193|20194|20195|20196|20197|20198|252627|252628|252629|252631|252632|301965|301967|301968|301970|301971|301977|301984|301986|301990|305095|305131|305143|305144|305153|305157|305158|305159|305160|305162|305164|305167|305170|305177|309792|309812|309813|309814|309816|309817|309838|309839|309840|309853|309874|309955|309962|309967|309972|309986|309987|309995|309996|369507|539006|612089|620252|620253|623297|699869|699870|710803|735973|750443|759551|790696|790697|790698|790699|897521|897522|897523|897524|897525|897526|897527|897528|897529|897530|897531|897532|897533|897534|897535|897536|897537|897538|897539|897540|897541|897542|897543|897544|897545|900314|900315|900316|900317|900318|900319|961850|965422", "text": "Renal tubular acidosis, distal, autosomal recessive" }, { - "baseId": 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"text": "Pseudohypoaldosteronism type 2C" }, { - "baseId": "20211", + "upstreamId": "20211", "text": "SCHIZOPHRENIA 9, SUSCEPTIBILITY TO" }, { - "baseId": "20212|20213|20214|20215|101183|101184|101185|141240|141241|141242|141243|141244|141245|141246|177764|177765|178709|188633|188635|188636|188637|188641|188643|195986|242112|270849|361763|361764|361765|361766|400342|400850|465286|465384|490836|504948|529625|567254|573509|573513|573513|656304|688486|842675|874091|874092|874093|874094|874095|874096|874097|874098|874099|874100|874101|874102|874103|874104|874105|874106|874107|874108|874109|874110|874111|874112|874113|874114|874115|874116|874117|874118|874119|874120|874121|874122|874123|874124|874125|874126|874127|874128|874129|874130|874131|874132|874133|874134|874135|874136|874137|874138|876566", + "upstreamId": "20212|20213|20214|20215|101183|101184|101185|141240|141241|141242|141243|141244|141245|141246|177764|177765|178709|188633|188635|188636|188637|188641|188643|195986|242112|270849|361763|361764|361765|361766|400342|400850|465286|465384|490836|504948|529625|567254|573509|573513|573513|656304|688486|842675|874091|874092|874093|874094|874095|874096|874097|874098|874099|874100|874101|874102|874103|874104|874105|874106|874107|874108|874109|874110|874111|874112|874113|874114|874115|874116|874117|874118|874119|874120|874121|874122|874123|874124|874125|874126|874127|874128|874129|874130|874131|874132|874133|874134|874135|874136|874137|874138|876566", "text": "Sick sinus syndrome 2, autosomal dominant" }, { - "baseId": 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+ "upstreamId": 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"text": "Brugada syndrome 8" }, { - "baseId": "20216|29190|44292|44801|45342|45426|45428|49116|53516|54242|54748|55691|55936|56038|56180|56291|56323|56440|56493|56495|56634|56805|57458|78464|78466|78482|78699|140876|141245|141502|141530|153685|171122|173867|175861|178572|178581|178584|178601|178654|178658|188357|189319|189364|189539|193356|196544|224258|224321|224346|224448|224511|224515|229491|240190|241821|259063|293513|301509|359753|374980|395893|462084|514088|679378|679400|679414|679422|679426|679450|679454|679479|679480|858248|965299", + "upstreamId": "20216|29190|44292|44801|45342|45426|45428|49116|53516|54242|54748|55691|55936|56038|56180|56291|56323|56440|56493|56495|56634|56805|57458|78464|78466|78482|78699|140876|141245|141502|141530|153685|171122|173867|175861|178572|178581|178584|178601|178654|178658|188357|189319|189364|189539|193356|196544|224258|224321|224346|224448|224511|224515|229491|240190|241821|259063|293513|301509|359753|374980|395893|462084|514088|679378|679400|679414|679422|679426|679450|679454|679479|679480|858248|965299", "text": "Ventricular tachycardia" }, { - "baseId": "20217|20218", + "upstreamId": "20217|20218", "text": "Hypercalciuria, absorptive, susceptibility to" }, { - "baseId": "20219|20220|20221|33477|33905|172165|253321|253324|263828|263829|263830|263831|307031|307032|307034|307036|307040|307042|307043|307045|307046|307048|311145|311150|311152|311158|316756|316758|316759|316760|316771|316778|316779|316780|316783|317161|317174|317175|317178|317182|317201|396871|550616|684053|684055|805015|901173|901174|901175|901176|901177|901178|901179|901180|901181|901182|901183|901184|903321", + "upstreamId": "20219|20220|20221|33477|33905|172165|253321|253324|263828|263829|263830|263831|307031|307032|307034|307036|307040|307042|307043|307045|307046|307048|311145|311150|311152|311158|316756|316758|316759|316760|316771|316778|316779|316780|316783|317161|317174|317175|317178|317182|317201|396871|550616|684053|684055|805015|901173|901174|901175|901176|901177|901178|901179|901180|901181|901182|901183|901184|903321", "text": "Dystonia 1" }, { - "baseId": "20219", + "upstreamId": "20219", "text": "Dystonia-1, torsion" }, { - "baseId": "20220", + "upstreamId": "20220", "text": "Dystonia, early-onset atypical, with myoclonic features" }, { - "baseId": "20221", + "upstreamId": "20221", "text": "Dystonia 1, torsion, modifier of" }, { - "baseId": "20222|20223|20224|20225|47509|47510|47511|47512|47513|47514|255413|255414|255415|255417|255421|255422|255423|255424|269087|323574|323576|323580|333305|340063|340067|341505|341509|341510|341514|341520|341522|341524|341525|341528|341535|547623|547624|547626|547627|547628|547630|547633|547635|547637|547648|547663|547664|547666|547877|547882|547883|547893|547897|547899|547901|548284|548285|548286|548289|548295|548303|548304|548318|548324|548326|620533|726336|739870|770408|842800|874309|874310|874311|874312|874313|874314|874315|874316|874317|874318|874319", + "upstreamId": "20222|20223|20224|20225|47509|47510|47511|47512|47513|47514|255413|255414|255415|255417|255421|255422|255423|255424|269087|323574|323576|323580|333305|340063|340067|341505|341509|341510|341514|341520|341522|341524|341525|341528|341535|547623|547624|547626|547627|547628|547630|547633|547635|547637|547648|547663|547664|547666|547877|547882|547883|547893|547897|547899|547901|548284|548285|548286|548289|548295|548303|548304|548318|548324|548326|620533|726336|739870|770408|842800|874309|874310|874311|874312|874313|874314|874315|874316|874317|874318|874319", "text": "Spondylocostal dysostosis 2, autosomal recessive" }, { - "baseId": "20223|47509|255414|265437|269087|340063|341505|341510|341524|714683|739871|739872|754778|770408|770410|770413|785057|785058|842800|874309|979690|979691|979692|979693|979694|979695|979696|979697|979698", + "upstreamId": "20223|47509|255414|265437|269087|340063|341505|341510|341524|714683|739871|739872|754778|770408|770410|770413|785057|785058|842800|874309|979690|979691|979692|979693|979694|979695|979696|979697|979698", "text": "Spondylocostal dysostosis type 2" }, { - "baseId": "20226|20227|20229|140438|790045", + "upstreamId": "20226|20227|20229|140438|790045", "text": "Heterotaxy, visceral, 2, autosomal" }, { - "baseId": "20230|20231|20232|20233|20239|20240|20241|196338|267580|274297|295775|295777|295780|295792|295795|295800|295804|295805|295811|295821|295828|295830|295835|295838|295839|295845|295846|295852|295853|295856|295869|295876|295877|295880|295890|295891|295893|295894|295899|295900|295939|295949|297591|297592|297607|297611|297613|297618|297626|297637|297645|297649|297651|297669|297671|297672|297673|297680|297681|297682|297689|297690|297695|297696|297699|297700|297701|297703|297705|297712|297715|297717|297718|297763|301485|301495|301497|301498|301499|301507|301508|301515|301521|301530|301532|301555|301565|301568|301572|301573|301585|301588|301606|301607|301610|301615|301616|301618|301621|301622|301623|301721|301724|301733|301738|301742|301743|301744|301746|301752|301756|301759|301760|301767|301768|301771|301781|301789|301791|301792|301793|301794|301806|301807|301810|301811|698894|893203|893204|893205|893206|893207|893208|893209|893210|893211|893212|893213|893214|893215|893216|893217|893218|893219|893220|893221|893222|893223|893224|893225|893226|893227|893228|893229|893230|893231|893232|893233|893234|893235|893236|893237|893238|893239|893240|893241|893242|893243|893244|893245|893246|893247|893248|893249|893250|893251|893252|893253|893254|893255|893256|893257|893258|893259|893260|893261|893262|893263|893264|893265|893266|893267|893268|893269|893270|893294|896055|896056|896057|896058|976648", + "upstreamId": "20230|20231|20232|20233|20239|20240|20241|196338|267580|274297|295775|295777|295780|295792|295795|295800|295804|295805|295811|295821|295828|295830|295835|295838|295839|295845|295846|295852|295853|295856|295869|295876|295877|295880|295890|295891|295893|295894|295899|295900|295939|295949|297591|297592|297607|297611|297613|297618|297626|297637|297645|297649|297651|297669|297671|297672|297673|297680|297681|297682|297689|297690|297695|297696|297699|297700|297701|297703|297705|297712|297715|297717|297718|297763|301485|301495|301497|301498|301499|301507|301508|301515|301521|301530|301532|301555|301565|301568|301572|301573|301585|301588|301606|301607|301610|301615|301616|301618|301621|301622|301623|301721|301724|301733|301738|301742|301743|301744|301746|301752|301756|301759|301760|301767|301768|301771|301781|301789|301791|301792|301793|301794|301806|301807|301810|301811|698894|893203|893204|893205|893206|893207|893208|893209|893210|893211|893212|893213|893214|893215|893216|893217|893218|893219|893220|893221|893222|893223|893224|893225|893226|893227|893228|893229|893230|893231|893232|893233|893234|893235|893236|893237|893238|893239|893240|893241|893242|893243|893244|893245|893246|893247|893248|893249|893250|893251|893252|893253|893254|893255|893256|893257|893258|893259|893260|893261|893262|893263|893264|893265|893266|893267|893268|893269|893270|893294|896055|896056|896057|896058|976648", "text": "Craniometaphyseal dysplasia, autosomal dominant" }, { - "baseId": "20231|20234|20235|20237|20238|196338|267580|274297|295775|295777|295780|295792|295795|295800|295804|295805|295811|295821|295828|295830|295835|295838|295839|295845|295846|295852|295853|295856|295869|295876|295877|295880|295890|295891|295893|295894|295899|295900|295939|295949|297591|297592|297607|297611|297613|297618|297626|297637|297645|297649|297651|297669|297671|297672|297673|297680|297681|297682|297689|297690|297695|297696|297699|297700|297701|297703|297705|297712|297715|297717|297718|297763|301485|301495|301497|301498|301499|301507|301508|301515|301521|301530|301532|301555|301565|301568|301572|301573|301585|301588|301606|301607|301610|301615|301616|301618|301621|301622|301623|301721|301724|301733|301738|301742|301743|301744|301746|301752|301756|301759|301760|301767|301768|301771|301781|301789|301791|301792|301793|301794|301806|301807|301810|301811|698894|893203|893204|893205|893206|893207|893208|893209|893210|893211|893212|893213|893214|893215|893216|893217|893218|893219|893220|893221|893222|893223|893224|893225|893226|893227|893228|893229|893230|893231|893232|893233|893234|893235|893236|893237|893238|893239|893240|893241|893242|893243|893244|893245|893246|893247|893248|893249|893250|893251|893252|893253|893254|893255|893256|893257|893258|893259|893260|893261|893262|893263|893264|893265|893266|893267|893268|893269|893270|893294|896055|896056|896057|896058|963138|976648", + "upstreamId": "20231|20234|20235|20237|20238|196338|267580|274297|295775|295777|295780|295792|295795|295800|295804|295805|295811|295821|295828|295830|295835|295838|295839|295845|295846|295852|295853|295856|295869|295876|295877|295880|295890|295891|295893|295894|295899|295900|295939|295949|297591|297592|297607|297611|297613|297618|297626|297637|297645|297649|297651|297669|297671|297672|297673|297680|297681|297682|297689|297690|297695|297696|297699|297700|297701|297703|297705|297712|297715|297717|297718|297763|301485|301495|301497|301498|301499|301507|301508|301515|301521|301530|301532|301555|301565|301568|301572|301573|301585|301588|301606|301607|301610|301615|301616|301618|301621|301622|301623|301721|301724|301733|301738|301742|301743|301744|301746|301752|301756|301759|301760|301767|301768|301771|301781|301789|301791|301792|301793|301794|301806|301807|301810|301811|698894|893203|893204|893205|893206|893207|893208|893209|893210|893211|893212|893213|893214|893215|893216|893217|893218|893219|893220|893221|893222|893223|893224|893225|893226|893227|893228|893229|893230|893231|893232|893233|893234|893235|893236|893237|893238|893239|893240|893241|893242|893243|893244|893245|893246|893247|893248|893249|893250|893251|893252|893253|893254|893255|893256|893257|893258|893259|893260|893261|893262|893263|893264|893265|893266|893267|893268|893269|893270|893294|896055|896056|896057|896058|963138|976648", "text": "Familial calcium pyrophosphate deposition" }, { - "baseId": "20236", + "upstreamId": "20236", "text": "Chondrocalcinosis 2, sporadic" }, { - "baseId": "20243|20244|20245|20246|20247|167467|623118", + "upstreamId": "20243|20244|20245|20246|20247|167467|623118", "text": "Diarrhea 3, secretory sodium, congenital, syndromic" }, { - "baseId": "20248|106514|106515|106516|106517|106518|106519|247012|961777|961778", + "upstreamId": "20248|106514|106515|106516|106517|106518|106519|247012|961777|961778", "text": "Hyperlysinemia" }, { - "baseId": "20249|275836|275843|275845|275846|275847|275849|275866|275874|275876|275877|275878|275879|275880|275882|275883|275885|275889|275924|275927|275934|275935|275951|275952|275958|275966|276027|276028|276032|276045|276050|276051|276054|276060|276061|276064|276069|276114|276141|276142|276143|276145|276151|276164|276169|276170|353027|614180|619945|620704|706564|731568|861900|861905|861906|861907|861908|861909|861910|861911|861912|861913|861914|861915|861916|861917|861918|861919|861920|861921|861922|861923|861924|861925|861926|861927|861928|861929|861930|861931|861932|861933|980431", + "upstreamId": "20249|275836|275843|275845|275846|275847|275849|275866|275874|275876|275877|275878|275879|275880|275882|275883|275885|275889|275924|275927|275934|275935|275951|275952|275958|275966|276027|276028|276032|276045|276050|276051|276054|276060|276061|276064|276069|276114|276141|276142|276143|276145|276151|276164|276169|276170|353027|614180|619945|620704|706564|731568|861900|861905|861906|861907|861908|861909|861910|861911|861912|861913|861914|861915|861916|861917|861918|861919|861920|861921|861922|861923|861924|861925|861926|861927|861928|861929|861930|861931|861932|861933|980431", "text": "MASP2 deficiency" }, { - "baseId": "20250|20251|481482|481483|552094|552095|552096|683218|963141|964824", + "upstreamId": "20250|20251|481482|481483|552094|552095|552096|683218|963141|964824", "text": "Congenital heart defects, multiple types, 2" }, { - "baseId": "20252|20257|20258|20834|20835|20836|71033|71034|71035|71036|71360|71361|71362|71363|71364|190040|190041|190042|193521|274295|300116|302843|307455|333191|333197|333198|333205|333213|333217|343301|343303|348623|348624|349697|438917|512906|741823|756936|880354|880355|880356|880357|880734", + "upstreamId": "20252|20257|20258|20834|20835|20836|71033|71034|71035|71036|71360|71361|71362|71363|71364|190040|190041|190042|193521|274295|300116|302843|307455|333191|333197|333198|333205|333213|333217|343301|343303|348623|348624|349697|438917|512906|741823|756936|880354|880355|880356|880357|880734", "text": "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1" }, { - "baseId": "20252|20253|20254|20255|20256|20257|20258|71363|193655|237073|252353|274295|300113|300114|300120|300122|302844|307457|307466|722029|895965|895966|895967|895968|895969|895970|895971|896243", + "upstreamId": "20252|20253|20254|20255|20256|20257|20258|71363|193655|237073|252353|274295|300113|300114|300120|300122|302844|307457|307466|722029|895965|895966|895967|895968|895969|895970|895971|896243", "text": "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2" }, { - "baseId": "20259|20260|513520|581918|581919", + "upstreamId": "20259|20260|513520|581918|581919", "text": "Osteoarthritis" }, { - "baseId": 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+ "upstreamId": "20261|20262|20263|20264|20265|20266|101825|106465|152872|177387|177614|177618|186764|186765|186766|186767|186768|186769|186770|186771|253180|253181|253182|253184|253186|253187|253188|253190|268056|268061|272971|275240|305952|305953|305957|305964|305970|305971|305972|305985|309991|309997|310004|310005|310008|310011|310012|310016|315302|315315|315316|315319|315320|315321|315322|315324|315327|315330|315332|315403|315407|315408|315410|315413|315416|315435|315436|315445|315446|315450|315454|315455|315456|315461|315462|315470|357640|357641|357642|357643|357644|357645|357646|357647|357648|357649|357650|357651|357652|357653|357654|357655|360901|407456|417079|417080|417081|417082|417083|417084|417085|417086|417087|417088|417089|417090|417091|417092|417093|417094|417095|417096|417097|417098|417099|417100|417101|417102|417103|417104|417105|417106|417107|417108|417109|417110|417111|417112|417113|417114|417115|417116|417117|417118|417119|417120|417121|417122|417123|417124|417125|417126|417127|417128|417129|417130|417131|417132|417133|417134|417135|417136|417137|417138|417139|417140|417141|417142|417143|417144|417145|417146|417147|417148|417149|417150|417151|417152|417155|417156|417157|424200|424201|431735|480496|494986|544470|544475|544478|544481|544766|544768|544804|544870|544877|583381|623639|623640|711650|736761|751254|766898|766903|766908|779561|790816|799030|835088|900096|900097|900098|900099|900100|900101|900102|900103|900104|900105|900106|900107|900108|900109|900110|900111|900112|900113|900114|900115|900116|900117|900118|900119|900120|900121|900122|900123|900124|900125|900126|900127|900128|976718|976719", "text": "Achromatopsia 3" }, { - "baseId": 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+ "upstreamId": "20262|20264|20266|24514|24515|24517|24519|24520|24521|88340|101244|101245|101246|152872|177387|177614|177618|177925|186764|186766|186769|186771|188766|191918|194429|213583|253181|253184|253188|253189|253915|253916|253917|253919|253920|253921|253922|253923|253924|268061|269501|269507|275240|288462|288469|288473|291347|291525|305961|305972|305979|305984|310028|311682|311689|311693|311696|311707|311708|311713|315454|315455|315462|315470|317261|317262|317267|317268|317273|317276|317288|317289|317290|323308|323311|323312|323313|323317|323318|323319|323326|323327|323329|323330|323331|323335|323880|323890|323892|323893|323894|323911|323919|353580|353845|357644|360901|407456|413292|413546|417083|417092|417103|417114|417136|431557|431745|431746|431747|431748|444307|480771|480772|480773|480774|480775|480776|480777|480778|480779|480780|480781|480782|480783|480784|486445|488680|490192|494980|494981|494982|494983|494984|494985|494986|496144|512922|512923|514579|544475|589204|590440|612250|612831|622993|622994|623639|623640|623878|624022|700677|711649|711650|730590|736761|751252|751253|751254|766898|766902|766903|766905|766906|766908|766909|779561|796193|800479|800480|800482|800483|800484|800539|800540|800541|800542|800562|801346|801348|801350|801411|821949|821950|835057|835059|835061|835064|835066|835068|835073|835075|835076|835077|835085|835089|852156|866560|866561|866562|866563|866564|866565|866566|866567|866568|866569|866570|866571|866572|866573|866574|866575|866576|866577|866578|866579|866580|868535|868536|868537|918189|978479|978480|978481|978482", "text": "Achromatopsia" }, { - "baseId": "20264|22919|22923|22924|22942|22952|104927|104930|104931|104938|104954|104974|104990|105042|105058|105068|105082|105135|105147|105160|105279|105285|105296|105297|105302|105329|105330|105332|105333|105337|105343|105380|105381|105383|105387|139937|139938|139942|139944|152793|177450|190742|191153|237686|237695|237696|237704|250031|250033|253189|267624|281326|281328|281329|281332|281340|281341|281342|281346|281351|281359|281361|281367|281368|281373|281375|281378|281381|281972|281973|281986|281988|281995|281996|282000|282001|282006|283241|283246|283260|283261|283265|283266|283281|283282|283286|283290|283291|283298|283299|283386|283388|283391|283392|283399|283400|283402|283415|283422|283423|283434|283438|283441|283442|305961|305979|305984|310028|353845", + "upstreamId": "20264|22919|22923|22924|22942|22952|104927|104930|104931|104938|104954|104974|104990|105042|105058|105068|105082|105135|105147|105160|105279|105285|105296|105297|105302|105329|105330|105332|105333|105337|105343|105380|105381|105383|105387|139937|139938|139942|139944|152793|177450|190742|191153|237686|237695|237696|237704|250031|250033|253189|267624|281326|281328|281329|281332|281340|281341|281342|281346|281351|281359|281361|281367|281368|281373|281375|281378|281381|281972|281973|281986|281988|281995|281996|282000|282001|282006|283241|283246|283260|283261|283265|283266|283281|283282|283286|283290|283291|283298|283299|283386|283388|283391|283392|283399|283400|283402|283415|283422|283423|283434|283438|283441|283442|305961|305979|305984|310028|353845", "text": "Stargardt Disease, Recessive" }, { - "baseId": "20264|315327", + "upstreamId": "20264|315327", "text": "CNGB3-Related Disorders" }, { - "baseId": 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+ "upstreamId": "20266|22918|22919|22920|22921|22921|22922|22923|22925|22926|22927|22927|22931|22933|22933|22935|22937|22937|22938|22939|22940|22942|22943|22943|22944|22946|22946|22948|22950|22951|22952|39173|39174|98774|98777|98777|98778|101825|104916|104923|104923|104925|104926|104935|104952|104955|104956|104959|104965|104969|104972|104972|104973|104973|104976|104985|104990|104991|104993|104995|104996|104997|104997|104999|105001|105003|105011|105012|105016|105030|105032|105033|105037|105042|105055|105058|105069|105070|105085|105086|105101|105102|105109|105113|105113|105128|105129|105132|105145|105149|105152|105154|105156|105163|105166|105167|105172|105173|105173|105174|105177|105181|105189|105190|105192|105193|105194|105195|105199|105199|105200|105210|105212|105219|105220|105221|105227|105229|105230|105231|105233|105235|105238|105240|105244|105254|105260|105269|105274|105279|105287|105291|105292|105308|105311|105317|105317|105319|105320|105323|105327|105328|105330|105336|105337|105339|105341|105345|105349|105352|105359|105362|105365|105381|105394|105394|105405|105406|106465|139941|152790|152792|152794|152872|177387|177450|177451|177614|177618|191153|194216|209342|209342|217189|227509|227510|237631|237632|237633|237634|237635|237636|237637|237637|237638|237639|237640|237641|237642|237643|237644|237645|237646|237647|237648|237649|237650|237651|237652|237653|237654|237655|237657|237658|237659|237660|237661|237662|237663|237664|237665|237666|237667|237668|237669|237670|237671|237672|237673|237674|237675|237676|237677|237678|237679|237680|237682|237683|237684|237685|237686|237687|237688|237689|237690|237691|237692|237693|237694|237695|237696|237697|237698|237699|237700|237701|237702|237703|237704|237705|237706|237707|237708|237709|237710|253180|253181|253182|253184|253186|253187|253188|253190|259680|259682|267624|268056|268061|272578|272971|275240|305952|305953|305957|305964|305970|305971|305972|305985|309991|309997|310004|310005|310008|310011|310012|310016|315302|315315|315316|315319|315320|315321|315322|315324|315330|315332|315403|315407|315408|315410|315413|315416|315435|315436|315445|315446|315450|315454|315455|315456|315461|315462|315470|359278|361623|365433|406402|407456|417136|426740|431614|431615|431616|431618|431619|431621|431623|431626|431627|431851|498604|498850|536020|551522|581848|583381|612831|677405|711650|736761|751254|766898|766903|766908|779561|790002|790003|790004|790005|790006|790007|790008|790009|790010|790011|790012|790013|790014|790015|790016|790017|790018|790019|799030|818175|818177|835088|900096|900097|900098|900099|900100|900101|900102|900103|900104|900105|900106|900107|900108|900109|900110|900111|900112|900113|900114|900115|900116|900117|900118|900119|900120|900121|900122|900123|900124|900125|900126|900127|900128|905881|972858", "text": "Stargardt disease 1" }, { - "baseId": "20267|20267|20268|20269|20270|20270|20271|20272|20273|20274|20275|20278|34317|34319|34320|34323|34326|34328|34333|34333|34334|34335|34335|34336|34337|34339|188225|188225|188226|275812|275814|275815|275815|275816|275817|275827|275839|275840|275840|275850|275850|275851|275852|275852|275853|275855|275856|275860|275868|275872|275874|275977|275978|275982|275983|275988|275989|275995|275996|275998|276021|276022|276025|276026|276082|276105|276108|276127|276128|276138|276140|361606|512791|514974|514976|556548|576387|626571|861324|861325|861882|861883|861884|861885|861886|861887|861888|861889|861890|861891|861892|861893|861894|861895|861896|861897|861898|861899|861900|861901|861902|861903|861904|929949|929950|929951|941366", + "upstreamId": "20267|20267|20268|20269|20270|20270|20271|20272|20273|20274|20275|20278|34317|34319|34320|34323|34326|34328|34333|34333|34334|34335|34335|34336|34337|34339|188225|188225|188226|275812|275814|275815|275815|275816|275817|275827|275839|275840|275840|275850|275850|275851|275852|275852|275853|275855|275856|275860|275868|275872|275874|275977|275978|275982|275983|275988|275989|275995|275996|275998|276021|276022|276025|276026|276082|276105|276108|276127|276128|276138|276140|361606|512791|514974|514976|556548|576387|626571|861324|861325|861882|861883|861884|861885|861886|861887|861888|861889|861890|861891|861892|861893|861894|861895|861896|861897|861898|861899|861900|861901|861902|861903|861904|929949|929950|929951|941366", "text": "Amyotrophic lateral sclerosis type 10" }, { - "baseId": "20267|20270|34319|34333|34335|34339|188225|275815|275840|275850|275852|514974|514976|556548|626571|929949|929950|929951|941366", + "upstreamId": "20267|20270|34319|34333|34335|34339|188225|275815|275840|275850|275852|514974|514976|556548|626571|929949|929950|929951|941366", "text": "TARDBP-related frontotemporal dementia" }, { - "baseId": "20277|20278|34326", + "upstreamId": "20277|20278|34326", "text": "FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED" }, { - "baseId": "20279|20280|20281|20282|20283|20284|20285|71202|71203|71204|71205|71206|71207|71208|71209|71210|71211|71213|192133|195377|265374|265891|329163|329167|329168|329172|329174|329175|329186|329188|329193|329198|329200|339322|339324|339328|339332|339335|339344|339356|339358|339364|339365|339367|339372|339373|339376|339388|345190|345192|345193|345194|345195|345198|345202|345206|345209|345212|345216|345218|346593|346597|346598|346599|346600|346602|346606|346608|346611|346617|353446|552285|576134|578551|584704|590368|612321|620597|653894|780129|877960|877961|877962|877963|877964|877965|877966|877967|877968|877969|877970|877971|877972|877973|877974|877975|877976|877977|877978|877979|877980|877981|877982|877983|877984|877985|877986|880555|880556|880557|880558|904190|920378|974518|974526|974527", + "upstreamId": "20279|20280|20281|20282|20283|20284|20285|71202|71203|71204|71205|71206|71207|71208|71209|71210|71211|71213|192133|195377|265374|265891|329163|329167|329168|329172|329174|329175|329186|329188|329193|329198|329200|339322|339324|339328|339332|339335|339344|339356|339358|339364|339365|339367|339372|339373|339376|339388|345190|345192|345193|345194|345195|345198|345202|345206|345209|345212|345216|345218|346593|346597|346598|346599|346600|346602|346606|346608|346611|346617|353446|552285|576134|578551|584704|590368|612321|620597|653894|780129|877960|877961|877962|877963|877964|877965|877966|877967|877968|877969|877970|877971|877972|877973|877974|877975|877976|877977|877978|877979|877980|877981|877982|877983|877984|877985|877986|880555|880556|880557|880558|904190|920378|974518|974526|974527", "text": "Mulibrey nanism syndrome" }, { - "baseId": "20286|20288|20290|132428|132429|132430|132431|132432|132433|132434|132435|132436|132437|132438|132439|132440|132441|132442|132443|132444|132445|132446|132447|132448|132449|132450|132451|132452|132453|132454|132455|132456|132457|132458|132459|132460|227515|227516|227517|227518|350779", + "upstreamId": "20286|20288|20290|132428|132429|132430|132431|132432|132433|132434|132435|132436|132437|132438|132439|132440|132441|132442|132443|132444|132445|132446|132447|132448|132449|132450|132451|132452|132453|132454|132455|132456|132457|132458|132459|132460|227515|227516|227517|227518|350779", "text": "Keratoconus 1" }, { - "baseId": "20286|20287|20288|20290|106790|106791|257338|334985|334986|334997|334998|335000|335001|335005|335015|335018|335022|335023|335025|335028|335035|335044|344805|344806|344808|344809|344810|344823|344824|344827|344828|349766|349768|349769|349771|349772|350772|350774|350775|350778|350779|350780|350781|350784|353582|360918|482202|778675|885912|885913|885914|885915|885916|885917|885918|885919|885920|885921|885922|885923|885924|885925|885926|885927|885928|885929|885930|885931|887435", + "upstreamId": "20286|20287|20288|20290|106790|106791|257338|334985|334986|334997|334998|335000|335001|335005|335015|335018|335022|335023|335025|335028|335035|335044|344805|344806|344808|344809|344810|344823|344824|344827|344828|349766|349768|349769|349771|349772|350772|350774|350775|350778|350779|350780|350781|350784|353582|360918|482202|778675|885912|885913|885914|885915|885916|885917|885918|885919|885920|885921|885922|885923|885924|885925|885926|885927|885928|885929|885930|885931|887435", "text": "Polymorphous corneal dystrophy" }, { - "baseId": "20287|226677|226678|226679|226680|705429", + "upstreamId": "20287|226677|226678|226679|226680|705429", "text": "Posterior polymorphous corneal dystrophy 1" }, { - "baseId": "20289|920607", + "upstreamId": "20289|920607", "text": "Craniofacial anomalies and anterior segment dysgenesis syndrome" }, { - "baseId": "20291|20292|20293|20298|20299|20301|137696|137698|262107|262108|262110|262111|262112|262113|262116|262117|262118|262119|262120|262122|262123|262126|262127|262128|262130|262131|262132|262133|262134|325523|325529|325530|325534|325536|325540|325541|325543|325547|325548|325550|325554|325555|325557|325569|325574|325584|325585|325587|325588|325598|325599|325609|325612|335203|335205|335207|335210|335214|335215|335216|335217|335221|335224|335227|335242|335244|341665|341669|341676|341678|341680|341681|341686|341689|341690|341697|341699|341704|341706|341708|341710|341715|341718|341720|341721|341725|343150|343151|343153|343158|343159|343162|343168|343177|343179|343192|343196|343198|343201|343202|343205|343211|343217|343219|343222|343224|343226|343227|343235|343236|744960|875381|875382|875383|875384|875385|875386|875387|875388|875389|875390|875391|875392|875393|875394|875395|875396|875397|875398|875399|875400|875401|875402|875403|875404|875405|875406|875407|875408|875409|875410|876676|966751", + "upstreamId": "20291|20292|20293|20298|20299|20301|137696|137698|262107|262108|262110|262111|262112|262113|262116|262117|262118|262119|262120|262122|262123|262126|262127|262128|262130|262131|262132|262133|262134|325523|325529|325530|325534|325536|325540|325541|325543|325547|325548|325550|325554|325555|325557|325569|325574|325584|325585|325587|325588|325598|325599|325609|325612|335203|335205|335207|335210|335214|335215|335216|335217|335221|335224|335227|335242|335244|341665|341669|341676|341678|341680|341681|341686|341689|341690|341697|341699|341704|341706|341708|341710|341715|341718|341720|341721|341725|343150|343151|343153|343158|343159|343162|343168|343177|343179|343192|343196|343198|343201|343202|343205|343211|343217|343219|343222|343224|343226|343227|343235|343236|744960|875381|875382|875383|875384|875385|875386|875387|875388|875389|875390|875391|875392|875393|875394|875395|875396|875397|875398|875399|875400|875401|875402|875403|875404|875405|875406|875407|875408|875409|875410|876676|966751", "text": "Cylindromatosis, familial" }, { - "baseId": "20293|20294|20297|20298|20300|137696|137698|262109|262114|262115|262124|262125|262129|325523|325529|325530|325534|325536|325540|325541|325543|325547|325548|325550|325554|325555|325557|325569|325574|325584|325585|325587|325588|325598|325599|325609|325612|335203|335205|335207|335210|335214|335215|335216|335217|335221|335224|335227|335242|335244|341665|341669|341676|341678|341680|341681|341686|341689|341690|341697|341699|341704|341706|341708|341710|341715|341718|341720|341721|341725|343150|343151|343153|343158|343159|343162|343168|343177|343179|343192|343196|343198|343201|343202|343205|343211|343217|343219|343222|343224|343226|343227|343235|343236|744960|875381|875382|875383|875384|875385|875386|875387|875388|875389|875390|875391|875392|875393|875394|875395|875396|875397|875398|875399|875400|875401|875402|875403|875404|875405|875406|875407|875408|875409|875410|876676", + "upstreamId": "20293|20294|20297|20298|20300|137696|137698|262109|262114|262115|262124|262125|262129|325523|325529|325530|325534|325536|325540|325541|325543|325547|325548|325550|325554|325555|325557|325569|325574|325584|325585|325587|325588|325598|325599|325609|325612|335203|335205|335207|335210|335214|335215|335216|335217|335221|335224|335227|335242|335244|341665|341669|341676|341678|341680|341681|341686|341689|341690|341697|341699|341704|341706|341708|341710|341715|341718|341720|341721|341725|343150|343151|343153|343158|343159|343162|343168|343177|343179|343192|343196|343198|343201|343202|343205|343211|343217|343219|343222|343224|343226|343227|343235|343236|744960|875381|875382|875383|875384|875385|875386|875387|875388|875389|875390|875391|875392|875393|875394|875395|875396|875397|875398|875399|875400|875401|875402|875403|875404|875405|875406|875407|875408|875409|875410|876676", "text": "Brooke-Spiegler syndrome" }, { - "baseId": "20295|20296|20297|20298|137696|137698|262121|325523|325529|325530|325534|325536|325540|325541|325543|325547|325548|325550|325554|325555|325557|325569|325574|325584|325585|325587|325588|325598|325599|325609|325612|335203|335205|335207|335210|335214|335215|335216|335217|335221|335224|335227|335242|341665|341669|341676|341678|341680|341686|341689|341690|341697|341699|341704|341706|341708|341710|341715|341718|341720|341721|341725|343150|343151|343153|343158|343159|343162|343168|343179|343192|343196|343198|343205|343211|343217|343219|343222|343226|343227|343235|343236|744960|875381|875382|875383|875384|875385|875386|875387|875388|875389|875390|875391|875392|875393|875394|875395|875396|875397|875398|875399|875400|875401|875402|875403|875404|875405|875406|875407|875408|875409|875410|876676", + "upstreamId": "20295|20296|20297|20298|137696|137698|262121|325523|325529|325530|325534|325536|325540|325541|325543|325547|325548|325550|325554|325555|325557|325569|325574|325584|325585|325587|325588|325598|325599|325609|325612|335203|335205|335207|335210|335214|335215|335216|335217|335221|335224|335227|335242|341665|341669|341676|341678|341680|341686|341689|341690|341697|341699|341704|341706|341708|341710|341715|341718|341720|341721|341725|343150|343151|343153|343158|343159|343162|343168|343179|343192|343196|343198|343205|343211|343217|343219|343222|343226|343227|343235|343236|744960|875381|875382|875383|875384|875385|875386|875387|875388|875389|875390|875391|875392|875393|875394|875395|875396|875397|875398|875399|875400|875401|875402|875403|875404|875405|875406|875407|875408|875409|875410|876676", "text": "Familial multiple trichoepitheliomata" }, { - "baseId": "20302|20303|20304|102897|199784|252151|252152|252153|252154|299237|299244|299246|299250|299256|299259|299260|299266|299271|299277|299285|299294|299295|299296|301639|301640|301644|301660|301673|301675|301680|301681|301683|301699|306067|306090|306120|306121|306138|306141|306143|306144|306145|306146|306151|306153|306155|306167|306169|306188|306331|306332|306334|306335|306361|306371|306378|306379|306382|306384|306395|306406|306407|306419|306422|306423|389650|521733|522045|560397|560610|563397|634657|634658|634659|634660|634661|634662|634663|634664|634665|634666|710233|710235|735454|749874|790598|804882|831625|831626|831627|831628|831629|831630|831631|831632|831633|831634|895495|895496|895497|895498|895499|895500|895501|895502|895503|895504|895505|895506|895507|895508|895509|895510|895511|895512|895513|895514|895515|895516|895517|895518|895519|895520|895521|895522|895523|895524|895525|895526|895527|895528|895529|895530|895531|895532|895533|895534|895535|895536|895537|895538|895539|895540|924273|924274|924275|933193|933194|933195|944905|944906|944907|944908|944909|954388|954389|954390|954391|954392", + "upstreamId": "20302|20303|20304|102897|199784|252151|252152|252153|252154|299237|299244|299246|299250|299256|299259|299260|299266|299271|299277|299285|299294|299295|299296|301639|301640|301644|301660|301673|301675|301680|301681|301683|301699|306067|306090|306120|306121|306138|306141|306143|306144|306145|306146|306151|306153|306155|306167|306169|306188|306331|306332|306334|306335|306361|306371|306378|306379|306382|306384|306395|306406|306407|306419|306422|306423|389650|521733|522045|560397|560610|563397|634657|634658|634659|634660|634661|634662|634663|634664|634665|634666|710233|710235|735454|749874|790598|804882|831625|831626|831627|831628|831629|831630|831631|831632|831633|831634|895495|895496|895497|895498|895499|895500|895501|895502|895503|895504|895505|895506|895507|895508|895509|895510|895511|895512|895513|895514|895515|895516|895517|895518|895519|895520|895521|895522|895523|895524|895525|895526|895527|895528|895529|895530|895531|895532|895533|895534|895535|895536|895537|895538|895539|895540|924273|924274|924275|933193|933194|933195|944905|944906|944907|944908|944909|954388|954389|954390|954391|954392", "text": "Familial hemophagocytic lymphohistiocytosis 4" }, { - "baseId": "20305|20306|20307|20308|142957|142958|142959|142960|142961|142962|142963|142964|142965|142966|192019|205145|251798|251800|251801|251802|251804|251805|251806|251807|251808|251809|251810|251811|251812|251813|264202|264220|295907|295910|295911|295912|295918|295919|295922|295931|295933|295937|297719|297720|297727|297732|297746|297751|297753|301638|301642|301645|301649|301657|301658|301659|301662|301664|301666|301667|301670|301819|301820|301821|301823|301826|301827|301828|301848|359552|360867|367978|368407|368425|368427|406656|421527|443704|443705|443707|454677|454680|454684|454688|454691|454703|454776|454777|455539|495252|496425|500709|513556|514505|520839|520841|520843|520844|521103|521104|521106|521109|521113|521243|521245|521247|521255|521303|521308|521310|560179|560181|560294|560296|560298|562909|562920|564888|564893|564903|576112|584762|612271|613507|613509|613510|614281|614282|620190|633553|633554|633555|633556|633557|633558|633559|633560|633561|633562|633563|633564|633565|633566|633567|633568|633569|633570|633571|633572|633573|633574|633575|633576|633577|633578|651312|651315|709714|709715|721288|734916|734917|734919|744027|749326|759369|764950|764951|782201|782203|782204|782205|819564|830428|830429|830430|830431|830432|830433|830434|830435|830436|830437|830438|830439|830440|830441|830442|830443|830444|830445|830446|830447|830448|830449|830450|851018|851020|851022|893275|893276|893277|893278|893279|893280|893281|893282|893283|893284|893285|893286|893287|893288|893289|893290|893291|893292|893293|896059|915006|923918|923919|923920|923921|923922|923923|923924|923925|923926|932757|932758|932759|932760|932761|932762|932763|932764|939993|939994|944441|944442|944443|944444|944445|944446|944447|944448|944449|944450|944451|944452|954069|954070|954071|954072|954073|954074|954075|960557|977213", + "upstreamId": "20305|20306|20307|20308|142957|142958|142959|142960|142961|142962|142963|142964|142965|142966|192019|205145|251798|251800|251801|251802|251804|251805|251806|251807|251808|251809|251810|251811|251812|251813|264202|264220|295907|295910|295911|295912|295918|295919|295922|295931|295933|295937|297719|297720|297727|297732|297746|297751|297753|301638|301642|301645|301649|301657|301658|301659|301662|301664|301666|301667|301670|301819|301820|301821|301823|301826|301827|301828|301848|359552|360867|367978|368407|368425|368427|406656|421527|443704|443705|443707|454677|454680|454684|454688|454691|454703|454776|454777|455539|495252|496425|500709|513556|514505|520839|520841|520843|520844|521103|521104|521106|521109|521113|521243|521245|521247|521255|521303|521308|521310|560179|560181|560294|560296|560298|562909|562920|564888|564893|564903|576112|584762|612271|613507|613509|613510|614281|614282|620190|633553|633554|633555|633556|633557|633558|633559|633560|633561|633562|633563|633564|633565|633566|633567|633568|633569|633570|633571|633572|633573|633574|633575|633576|633577|633578|651312|651315|709714|709715|721288|734916|734917|734919|744027|749326|759369|764950|764951|782201|782203|782204|782205|819564|830428|830429|830430|830431|830432|830433|830434|830435|830436|830437|830438|830439|830440|830441|830442|830443|830444|830445|830446|830447|830448|830449|830450|851018|851020|851022|893275|893276|893277|893278|893279|893280|893281|893282|893283|893284|893285|893286|893287|893288|893289|893290|893291|893292|893293|896059|915006|923918|923919|923920|923921|923922|923923|923924|923925|923926|932757|932758|932759|932760|932761|932762|932763|932764|939993|939994|944441|944442|944443|944444|944445|944446|944447|944448|944449|944450|944451|944452|954069|954070|954071|954072|954073|954074|954075|960557|977213", "text": "Netherton syndrome" }, { - "baseId": "20308", + "upstreamId": "20308", "text": "SPINK5 POLYMORPHISM" }, { - "baseId": "20309|20310|20311|552206", + "upstreamId": "20309|20310|20311|552206", "text": "Nephrolithiasis/osteoporosis, hypophosphatemic, 2" }, { - "baseId": "20310|20399|76488|181455|186603|192938|193488|200349|214364|244917|246919|250624|263997|312163|360862|390510|415480|443176|443179|514117|581999|624419|644712|697968|708009|708013|708015|724534|733144|791543|818211|874831|904075|904076|904077|904078|904079|904080|904081|904082|904083|904084|904085|904086|904092|904095|904096|965433", + "upstreamId": "20310|20399|76488|181455|186603|192938|193488|200349|214364|244917|246919|250624|263997|312163|360862|390510|415480|443176|443179|514117|581999|624419|644712|697968|708009|708013|708015|724534|733144|791543|818211|874831|904075|904076|904077|904078|904079|904080|904081|904082|904083|904084|904085|904086|904092|904095|904096|965433", "text": "Chronic kidney disease" }, { - "baseId": "20311|186616", + "upstreamId": "20311|186616", "text": "Hypophosphatemia" }, { - "baseId": "20311|20675|20683|20685|20970|27267|200501|236723|260799|539124|539125|539126|539135|539136|539143|539152|539154|969244", + "upstreamId": "20311|20675|20683|20685|20970|27267|200501|236723|260799|539124|539125|539126|539135|539136|539143|539152|539154|969244", "text": "Nephrolithiasis" }, { - "baseId": "20312|20313|20314|75333|135818|135819|192432|227921|314761|314779|314781|314805|314810|321476|321487|321489|321501|327605|327622|327637|327642|327651|328668|328736|328739|444869|480427|480431|481479|493811|493812|508867|537165|576143|576144|626208|792607|798645|868688|868689|868690|868691|903582|917388|920101|920102|920103|920104|920105|920106|920304|970943|971538", + "upstreamId": "20312|20313|20314|75333|135818|135819|192432|227921|314761|314779|314781|314805|314810|321476|321487|321489|321501|327605|327622|327637|327642|327651|328668|328736|328739|444869|480427|480431|481479|493811|493812|508867|537165|576143|576144|626208|792607|798645|868688|868689|868690|868691|903582|917388|920101|920102|920103|920104|920105|920106|920304|970943|971538", "text": "Spinocerebellar ataxia type 5" }, { - "baseId": "20315|48731|48732|48733|142485|142486|142487|211824|211835|211836|211838|339745|339747|339749|345475|345476|346822|346823|378660|482152|620602|878190|878191|878192|878193|880567", + "upstreamId": "20315|48731|48732|48733|142485|142486|142487|211824|211835|211836|211838|339745|339747|339749|345475|345476|346822|346823|378660|482152|620602|878190|878191|878192|878193|880567", "text": "Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4" }, { - "baseId": "20316|20317|20318|20319|20320|20321|20322|33943|33944|33945|33946|33947|33948|33949|33950|33951|33952|33953|33954|33955|33956|33957|33958|33959|33960|33961|33962|33965|171814|175054|175055|175056|175332|175333|175335|177772|191863|207808|207809|207810|207811|229954|253959|253961|253965|273562|311879|311881|311892|311893|311898|311900|311901|311903|311905|311908|311909|311911|311916|317495|317496|317497|317500|317527|317530|317531|317536|317538|317542|317550|317553|317560|317571|317574|323519|323522|323544|323546|323549|323553|323554|323556|323557|324204|324205|324212|324215|324219|324222|324225|324229|324230|324232|324238|324239|324248|324252|324253|324258|324259|324262|429155|493975|503317|610684|615952|615953|615965|682847|682849|712545|737674|768101|783795|783804|801120|866696|866697|866698|866699|866700|866701|866702|866703|866704|866705|866706|866707|866708|866709|866710|866711|866712|866713|866714|866715|984079|984080", + "upstreamId": "20316|20317|20318|20319|20320|20321|20322|33943|33944|33945|33946|33947|33948|33949|33950|33951|33952|33953|33954|33955|33956|33957|33958|33959|33960|33961|33962|33965|171814|175054|175055|175056|175332|175333|175335|177772|191863|207808|207809|207810|207811|229954|253959|253961|253965|273562|311879|311881|311892|311893|311898|311900|311901|311903|311905|311908|311909|311911|311916|317495|317496|317497|317500|317527|317530|317531|317536|317538|317542|317550|317553|317560|317571|317574|323519|323522|323544|323546|323549|323553|323554|323556|323557|324204|324205|324212|324215|324219|324222|324225|324229|324230|324232|324238|324239|324248|324252|324253|324258|324259|324262|429155|493975|503317|610684|615952|615953|615965|682847|682849|712545|737674|768101|783795|783804|801120|866696|866697|866698|866699|866700|866701|866702|866703|866704|866705|866706|866707|866708|866709|866710|866711|866712|866713|866714|866715|984079|984080", "text": "Hermansky-Pudlak syndrome 1" }, { - "baseId": "20323", + "upstreamId": "20323", "text": "SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS" }, { - "baseId": "20324", + "upstreamId": "20324", "text": "Immunodeficiency due to ficolin 3 deficiency" }, { - "baseId": "20325|205134|227224|227225|227226|227227|550855|609298|732968|732969|790128", + "upstreamId": "20325|205134|227224|227225|227226|227227|550855|609298|732968|732969|790128", "text": "Pigmented nodular adrenocortical disease, primary, 2" }, { - "baseId": "20327", + "upstreamId": "20327", "text": "AIDS, progression to" }, { - "baseId": "20328|102925|102926|174156|981566", + "upstreamId": "20328|102925|102926|174156|981566", "text": "Deafness, autosomal recessive 61" }, { - "baseId": "20329|20330|20331|190815|227212|236949|266305|266503|268573|270614|279610|279615|279616|279617|279618|279625|279629|279644|279645|279868|279869|279871|279872|279873|279874|279876|279878|281209|281238|281239|281240|281244|281245|281257|281271|281274|281275|281278|281289|281294|281296|281297|281298|389211|488693|584436|584445|620715|718804|718805|743737|761712|792714|863914|863915|863916|863917|863918|863919|865136|865137|865138|865139", + "upstreamId": "20329|20330|20331|190815|227212|236949|266305|266503|268573|270614|279610|279615|279616|279617|279618|279625|279629|279644|279645|279868|279869|279871|279872|279873|279874|279876|279878|281209|281238|281239|281240|281244|281245|281257|281271|281274|281275|281278|281289|281294|281296|281297|281298|389211|488693|584436|584445|620715|718804|718805|743737|761712|792714|863914|863915|863916|863917|863918|863919|865136|865137|865138|865139", "text": "Hypoparathyroidism-retardation-dysmorphism syndrome" }, { - "baseId": "20329|227212|620715|792714", + "upstreamId": "20329|227212|620715|792714", "text": "Autosomal recessive Kenny-Caffey syndrome" }, { - "baseId": 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"text": "MYH-associated polyposis" }, { - "baseId": "20332|20600|22859|23777|27270|27271|27617|27628|28311|28316|50032|50035|50076|94757|94763|94786|94786|94812|94816|94826|94826|94834|94836|94843|94898|94947|95036|133027|133050|133378|136694|136698|136700|136701|136702|136713|138590|150979|151013|151078|151946|152183|152204|180098|181998|182130|184193|212214|221251|221252|221295|232837|337250|362837|392813|392893|400267|405879|405897|427189|432523|451404|473109|486818|486819|486820|508809|518546|537660|553356|576119", + "upstreamId": "20332|20600|22859|23777|27270|27271|27617|27628|28311|28316|50032|50035|50076|94757|94763|94786|94786|94812|94816|94826|94826|94834|94836|94843|94898|94947|95036|133027|133050|133378|136694|136698|136700|136701|136702|136713|138590|150979|151013|151078|151946|152183|152204|180098|181998|182130|184193|212214|221251|221252|221295|232837|337250|362837|392813|392893|400267|405879|405897|427189|432523|451404|473109|486818|486819|486820|508809|518546|537660|553356|576119", "text": "Endometrial carcinoma" }, { - "baseId": "20332|20333|32616|32617|32618|32620|32622|32623|32625|32626|50193|133297|133302|133303|138598|139695|150591|150996|152450|179930|181678|232272|363111|363112", + "upstreamId": "20332|20333|32616|32617|32618|32620|32622|32623|32625|32626|50193|133297|133302|133303|138598|139695|150591|150996|152450|179930|181678|232272|363111|363112", "text": "Pilomatrixoma" }, { - "baseId": "20333|20602", + "upstreamId": "20333|20602", "text": "Endometrial cancer" }, { - "baseId": "20333", + "upstreamId": "20333", "text": "Small intestine carcinoid" }, { - "baseId": "20333", + "upstreamId": "20333", "text": "Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas" }, { - "baseId": "20333", + "upstreamId": "20333", "text": "Ovarian carcinoma" }, { - "baseId": 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"text": "Familial colorectal cancer" }, { - "baseId": "20340|134313|271092|508907|791884|919809", + "upstreamId": "20340|134313|271092|508907|791884|919809", "text": "Congenital cataracts-facial dysmorphism-neuropathy syndrome" }, { - "baseId": "20341|20342|20343|20344|20345|20346|45539|45540|45541|199804|223590|237009|256082|260152|265347|327421|327422|327424|327427|343527|343532|345080|351719|433976|445699|445700|466345|467290|530597|530601|530603|530604|530752|530756|530870|530872|530877|531104|531112|537279|568706|568707|568718|570792|570794|574311|574315|574316|610056|610057|610058|614432|614432|624619|645324|645325|645326|645327|645328|645329|645330|645331|645332|645333|645334|645335|645336|645337|645338|645339|645340|652888|703985|715260|727012|740596|740597|771262|785472|785473|791679|844732|844733|844734|844735|844736|844737|844738|844739|844740|844741|851695|852694|918594|928068|928069|928070|937736|937737|940385|949714|949715|949716|960873|961973", + "upstreamId": "20341|20342|20343|20344|20345|20346|45539|45540|45541|199804|223590|237009|256082|260152|265347|327421|327422|327424|327427|343527|343532|345080|351719|433976|445699|445700|466345|467290|530597|530601|530603|530604|530752|530756|530870|530872|530877|531104|531112|537279|568706|568707|568718|570792|570794|574311|574315|574316|610056|610057|610058|614432|614432|624619|645324|645325|645326|645327|645328|645329|645330|645331|645332|645333|645334|645335|645336|645337|645338|645339|645340|652888|703985|715260|727012|740596|740597|771262|785472|785473|791679|844732|844733|844734|844735|844736|844737|844738|844739|844740|844741|851695|852694|918594|928068|928069|928070|937736|937737|940385|949714|949715|949716|960873|961973", "text": "Common variable immunodeficiency 2" }, { - "baseId": "20341|20342|20344|199804|614432|844739", + "upstreamId": "20341|20342|20344|199804|614432|844739", "text": "Immunoglobulin A deficiency 2" }, { - "baseId": "20341|20342|20343|45539|45540|237009|256081|256082|327421|327422|327424|327425|327427|337287|337290|337293|343519|343523|343527|343532|345070|345079|345080", + "upstreamId": "20341|20342|20343|45539|45540|237009|256081|256082|327421|327422|327424|327425|327427|337287|337290|337293|343519|343523|343527|343532|345070|345079|345080", "text": "Common Variable Immune Deficiency, Dominant" }, { - "baseId": "20342|928530|928531|928532|938221|938222|950285|950286|950287|958306|958307|958308|958309", + "upstreamId": "20342|928530|928531|928532|938221|938222|950285|950286|950287|958306|958307|958308|958309", "text": "Common variable agammaglobulinemia" }, { - "baseId": 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"20348|20348|20348|20349|20355|34521|34521|34523|34523|38435|38435|101817|101817|101817|101818|101818|101819|101819|106463|106463|213466|213466|213467|243573|257301|257302|257303|257303|257304|334757|334759|334763|334765|334780|334781|334783|334785|344635|344636|344641|344645|344647|344655|349613|349613|349614|349616|349617|349625|349626|349630|350629|350630|350634|350635|350637|350639|350640|350642|350643|354064|404130|404130|471361|471361|471362|471362|488900|488900|490282|491001|534000|575074|648569|648570|648571|648572|684861|684862|791968|791969|848197|848198|848198|848199|848200|848201|848202|848203|848204|848205|848206|848207|848208|851841|852995|885783|885784|885785|885786|885787|885788|885789|885790|885791|885792|885793|885794|885795|885796|929140|938904|938905|938906|938907|950977|950978|950979|950980|950981|950982|950983|950984|950985|958771|958772|958773|958774|958775|958776|958777|958778", "text": "McKusick-Kaufman syndrome" }, { - "baseId": "20348|20348|20350|20351|20352|20353|20354|20355|34521|34523|101817|101817|101818|101819|106463|213466|257301|257302|257303|334757|334759|334763|334765|334780|334781|334783|344635|344636|344641|344645|344647|349613|349614|349616|349617|349625|349626|349630|350629|350630|350634|350635|350637|350640|350642|350643|404130|471361|471362|488900|513146|539984|788934|848198|885783|885784|885785|885786|885787|885788|885789|885790|885791|885792|885793|885794|885795|885796|980394", + "upstreamId": "20348|20348|20350|20351|20352|20353|20354|20355|34521|34523|101817|101817|101818|101819|106463|213466|257301|257302|257303|334757|334759|334763|334765|334780|334781|334783|344635|344636|344641|344645|344647|349613|349614|349616|349617|349625|349626|349630|350629|350630|350634|350635|350637|350640|350642|350643|404130|471361|471362|488900|513146|539984|788934|848198|885783|885784|885785|885786|885787|885788|885789|885790|885791|885792|885793|885794|885795|885796|980394", "text": "Bardet-Biedl syndrome 6" }, { - "baseId": "20360|28399", + "upstreamId": "20360|28399", "text": "Asthma, aspirin-induced, susceptibility to" }, { - "baseId": "20360", + "upstreamId": "20360", "text": "Asthma and nasal polyps" }, { - "baseId": "20361|20362|429123|815875", + "upstreamId": "20361|20362|429123|815875", "text": "Diarrhea 4, malabsorptive, congenital" }, { - "baseId": 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+ "upstreamId": "20365|20366|20369|20370|20371|32840|39397|134235|139887|139888|139889|142821|142822|142824|169108|169109|169110|169114|169116|169117|169118|169119|169120|186928|190657|192859|244926|268676|322184|322186|322193|322195|322198|322202|322203|322204|322206|322220|322223|322228|322229|322237|322238|322244|322248|322255|322257|322259|322262|331497|331498|331503|331504|331507|331510|331513|331514|331516|331520|331521|331523|331526|331532|331534|331536|331538|331543|331544|331547|331551|331553|331557|331559|331562|331570|338405|338411|338418|338419|338420|338430|338431|338438|338444|338449|338455|338458|338466|338475|338480|338488|338496|338497|338498|340173|340175|340180|340182|340183|340189|340191|340192|340193|340194|340199|340206|340208|340211|340213|340222|340223|340228|340229|340232|340234|340236|340237|340242|358277|358278|358279|358280|358281|358282|358283|358284|358285|358286|358287|358288|358289|358290|358291|358292|358293|360234|361213|373373|374030|374035|374038|374463|376378|415415|429644|433917|434645|513628|547385|547386|547388|547462|547463|547470|547474|547477|547655|547657|547661|547662|547674|547946|547963|547970|547974|547978|547984|547986|547992|548000|656286|688396|688397|693657|739565|739568|754388|770108|784890|784891|784893|801723|804746|873201|873202|873203|873204|873205|873206|873207|873208|873209|873210|873211|873212|873213|873214|873215|873216|873217|873218|873219|873220|873221|873222|873223|873224|873225|873226|873227|873228|873229|873230|873231|873232|873233|873234|873235|873236|873237|873238|873239|873240|873241|873242|873243|873244|873245|873246|873247|873248|873249|873250|873251|873252|873253|876489|876490|876491|979559|979560|979561|979562|979563|979564|979565|979566|979567|979568|979569|979570|979571|979572|979573|979574|979575|979576|979577|979578|979579|979580|979581|979582|979583|979584|979585|979586|979587|979588|979589|979590|979591|979592", "text": "Agenesis of the corpus callosum with peripheral neuropathy" }, { - "baseId": "20372", + "upstreamId": "20372", "text": "BETA-GLUCOPYRANOSIDE TASTING" }, { - "baseId": "20372", + "upstreamId": "20372", "text": "Alcohol dependence, susceptibility to" }, { - "baseId": "20373|20374", + "upstreamId": "20373|20374", "text": "RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED" }, { - "baseId": "20375|105677|106451|177818|292531|292538|292539|292546|292547|292553|292554|292555|292556|292561|292597|292599|293944|293946|293963|293972|293973|297322|297323|297324|297325|297327|297328|297333|297335|297336|297342|297352|297354|297356|297357|297361|297362|297377|297378|297379|297386|297406|297407|828896|890281|890282|890283|890284|890285|890286|890287|890288|890289|890290|890291|890292|890293|890294|890295|890296|890297|890298|890299|890300|890301|890302|890303|890304|890305|890306|890307|890308|890309|890310|890311|890312|890313|890314|890315|890316|966582|966583|966584|966585|966595", + "upstreamId": "20375|105677|106451|177818|292531|292538|292539|292546|292547|292553|292554|292555|292556|292561|292597|292599|293944|293946|293963|293972|293973|297322|297323|297324|297325|297327|297328|297333|297335|297336|297342|297352|297354|297356|297357|297361|297362|297377|297378|297379|297386|297406|297407|828896|890281|890282|890283|890284|890285|890286|890287|890288|890289|890290|890291|890292|890293|890294|890295|890296|890297|890298|890299|890300|890301|890302|890303|890304|890305|890306|890307|890308|890309|890310|890311|890312|890313|890314|890315|890316|966582|966583|966584|966585|966595", "text": "Leber congenital amaurosis 14" }, { - "baseId": "20375", + "upstreamId": "20375", "text": "RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED" }, { - "baseId": "20376|614251", + "upstreamId": "20376|614251", "text": "Birbeck granule deficiency" }, { - "baseId": "20384", + "upstreamId": "20384", "text": "KLOTHO POLYMORPHISM" }, { - "baseId": "20385|75515|319374|319378|319380|319384|319386|319390|319392|319393|319398|319405|319409|319411|319412|319414|319415|327934|327935|327936|327943|327945|327947|327959|327960|327962|327966|327967|334219|334231|334236|334238|334247|334248|334249|334253|334254|334256|334263|334271|334285|334288|334290|334291|335957|335958|335959|335965|335972|335976|335978|335982|335984|335985|335989|335998|336002|336003|336010|620858|725470|871078|871079|871080|871081|871082|871083|871084|871085|871086|871087|871088|871089|871090|871091|871092|871093|871094|871095|871096|871097|871098|871099|871100|871101|871102|871103|871104|871105|871106|871107|871108|871109|871110|871111|871112|871113|871114|871115|871116|871117|871118|871119|871120|871121|871122|871123|871124|871125|871126|871127|871128|871129|871130|871131|871132|871133|872327", + "upstreamId": "20385|75515|319374|319378|319380|319384|319386|319390|319392|319393|319398|319405|319409|319411|319412|319414|319415|327934|327935|327936|327943|327945|327947|327959|327960|327962|327966|327967|334219|334231|334236|334238|334247|334248|334249|334253|334254|334256|334263|334271|334285|334288|334290|334291|335957|335958|335959|335965|335972|335976|335978|335982|335984|335985|335989|335998|336002|336003|336010|620858|725470|871078|871079|871080|871081|871082|871083|871084|871085|871086|871087|871088|871089|871090|871091|871092|871093|871094|871095|871096|871097|871098|871099|871100|871101|871102|871103|871104|871105|871106|871107|871108|871109|871110|871111|871112|871113|871114|871115|871116|871117|871118|871119|871120|871121|871122|871123|871124|871125|871126|871127|871128|871129|871130|871131|871132|871133|872327", "text": "Hyperphosphatemic familial tumoral calcinosis 3" }, { - "baseId": "20386|20387|20388|20389|20390|20391|20392|20393|290368|290374|290375|290388|290390|290394|290396|290397|290405|290407|290409|290410|290417|290418|290422|290425|290427|290434|290435|290444|290451|290452|290456|290458|290462|291242|291252|291253|291254|291256|291258|291278|291295|291298|291304|291306|291310|291316|291324|291330|291341|291342|291350|291351|291352|294495|294496|294498|294499|294516|294518|294519|294528|294529|294530|294537|294549|294564|294565|294566|294568|294570|294571|294945|294960|294967|294968|294969|294971|294974|294976|294977|294978|294979|294980|294992|295000|295002|295007|295011|353649|439219|578419|610515|720449|734069|759263|800846|859269|888930|888931|888932|888933|888934|888935|888936|888937|888938|888939|888940|888941|888942|888943|888944|888945|888946|888947|888948|888949|888950|888951|888952|888953|888954|888955|888956|888957|888958|888959|888960|888961|888962|888963|888964|891645|961765|965659", + "upstreamId": "20386|20387|20388|20389|20390|20391|20392|20393|290368|290374|290375|290388|290390|290394|290396|290397|290405|290407|290409|290410|290417|290418|290422|290425|290427|290434|290435|290444|290451|290452|290456|290458|290462|291242|291252|291253|291254|291256|291258|291278|291295|291298|291304|291306|291310|291316|291324|291330|291341|291342|291350|291351|291352|294495|294496|294498|294499|294516|294518|294519|294528|294529|294530|294537|294549|294564|294565|294566|294568|294570|294571|294945|294960|294967|294968|294969|294971|294974|294976|294977|294978|294979|294980|294992|295000|295002|295007|295011|353649|439219|578419|610515|720449|734069|759263|800846|859269|888930|888931|888932|888933|888934|888935|888936|888937|888938|888939|888940|888941|888942|888943|888944|888945|888946|888947|888948|888949|888950|888951|888952|888953|888954|888955|888956|888957|888958|888959|888960|888961|888962|888963|888964|891645|961765|965659", "text": "Triglyceride storage disease with ichthyosis" }, { - "baseId": "20394|20395|20396|20397|20398|101482|101483|101486|101487|101489|177135|270735|313326|313329|313330|313340|313353|313357|313358|313360|313363|313364|313366|319445|319446|319458|319459|325580|325582|325589|325590|325591|325597|325601|325602|326591|326616|326619|326620|326621|326625|326627|353173|360016|421838|460996|461007|461302|525991|526039|526485|565565|570385|620395|639823|639824|639825|639826|639827|639828|692967|692968|724325|838124|838125|838126|838127|867580|867581|867582|867583|867584|867585|867586|867587|867588|867589|867590|867591|867592|867593|867594|867595|867596|868620|868621|868622|868623|926155|935436|947362|956427|956428", + "upstreamId": "20394|20395|20396|20397|20398|101482|101483|101486|101487|101489|177135|270735|313326|313329|313330|313340|313353|313357|313358|313360|313363|313364|313366|319445|319446|319458|319459|325580|325582|325589|325590|325591|325597|325601|325602|326591|326616|326619|326620|326621|326625|326627|353173|360016|421838|460996|461007|461302|525991|526039|526485|565565|570385|620395|639823|639824|639825|639826|639827|639828|692967|692968|724325|838124|838125|838126|838127|867580|867581|867582|867583|867584|867585|867586|867587|867588|867589|867590|867591|867592|867593|867594|867595|867596|868620|868621|868622|868623|926155|935436|947362|956427|956428", "text": "Deficiency of isobutyryl-CoA dehydrogenase" }, { - "baseId": "20399|20400|20402|20404|20405|20406|20407|20408|20409|131950|186602|186603|186604|186605|186606|186607|224184|226216|226217|226218|226219|226220|226221|227036|227037|249552|249553|249554|249555|249558|249559|249560|273986|277481|277485|277670|277677|277678|278561|278562|278564|278566|356997|356998|356999|357000|357001|357002|357003|357004|357005|357006|357007|384472|440412|440413|440418|486663|496597|540649|540650|540652|540653|540658|540662|540667|540677|540679|540682|540683|540684|540687|540688|540689|540690|540691|540694|540695|540696|540697|540698|540699|540701|540703|540704|540708|540709|540710|540711|540713|540715|540717|540719|540721|540722|540724|553582|576445|587964|590232|590233|623236|623237|789887|798459|798460|862844|862845|862846|862847|862848|862849|862850|862851|862852|865042|865043|906001|916806|962665|977170|983941", + "upstreamId": "20399|20400|20402|20404|20405|20406|20407|20408|20409|131950|186602|186603|186604|186605|186606|186607|224184|226216|226217|226218|226219|226220|226221|227036|227037|249552|249553|249554|249555|249558|249559|249560|273986|277481|277485|277670|277677|277678|278561|278562|278564|278566|356997|356998|356999|357000|357001|357002|357003|357004|357005|357006|357007|384472|440412|440413|440418|486663|496597|540649|540650|540652|540653|540658|540662|540667|540677|540679|540682|540683|540684|540687|540688|540689|540690|540691|540694|540695|540696|540697|540698|540699|540701|540703|540704|540708|540709|540710|540711|540713|540715|540717|540719|540721|540722|540724|553582|576445|587964|590232|590233|623236|623237|789887|798459|798460|862844|862845|862846|862847|862848|862849|862850|862851|862852|865042|865043|906001|916806|962665|977170|983941", "text": "Idiopathic nephrotic syndrome" }, { - "baseId": "20409|131950", + "upstreamId": "20409|131950", "text": "Nephrotic syndrome, type 2, susceptibility to" }, { - "baseId": "20409|21119|21911|76004|178433|178637|178662|178741|178742|178744|178745|223747|224184|360994|432287|513894|513895|513923|514037|514113|514114|514116|514118", + "upstreamId": "20409|21119|21911|76004|178433|178637|178662|178741|178742|178744|178745|223747|224184|360994|432287|513894|513895|513923|514037|514113|514114|514116|514118", "text": "Proteinuria" }, { - "baseId": "20410|20411|20412|315715|315717|315723|322706|322707|322720|328831|620427|869052|869053|869054|869055|869056|869057|869058", + "upstreamId": "20410|20411|20412|315715|315717|315723|322706|322707|322720|328831|620427|869052|869053|869054|869055|869056|869057|869058", "text": "Spermatogenic failure 4" }, { - "baseId": "20413|20414|20415|20416|20417|252624|252625|252626|272397|273783|301951|301952|301956|301959|301960|301961|305060|305061|305063|305064|305074|305076|305079|305080|305081|305091|305092|305093|309745|309752|309755|309756|309757|309763|309767|309768|309769|309770|309778|309779|309788|309882|309883|309894|309898|309903|309904|309905|309907|309914|309921|309932|309935|309937|309939|309953|585828|586432|620797|788811|897479|897480|897481|897482|897483|897484|897485|897486|897487|897488|897489|897490|897491|897492|897493|897494|897495|897496|897497|897498|897499|897500|897501|897502|897503|897504|897505|897506|897507|897508|897509|897510|897511|897512|897513|897514|897515|897516|897517|897518|897519|897520|903550|903551", + "upstreamId": "20413|20414|20415|20416|20417|252624|252625|252626|272397|273783|301951|301952|301956|301959|301960|301961|305060|305061|305063|305064|305074|305076|305079|305080|305081|305091|305092|305093|309745|309752|309755|309756|309757|309763|309767|309768|309769|309770|309778|309779|309788|309882|309883|309894|309898|309903|309904|309905|309907|309914|309921|309932|309935|309937|309939|309953|585828|586432|620797|788811|897479|897480|897481|897482|897483|897484|897485|897486|897487|897488|897489|897490|897491|897492|897493|897494|897495|897496|897497|897498|897499|897500|897501|897502|897503|897504|897505|897506|897507|897508|897509|897510|897511|897512|897513|897514|897515|897516|897517|897518|897519|897520|903550|903551", "text": "Congenital bile acid synthesis defect 2" }, { - "baseId": "20418|141464|141466|141467|165472|165473|165474|237150|318169|318173|318177|318180|326177|326181|326186|326187|332336|332337|332338|332343|332345|333937|333942|333953|333960|333961|333962|333967|333979|333981|333985|333991|408728|549993|693265|693266|695580|738808|753533|870247|870248|870249|870250|870251|870252|870253|870254|870255|870256|870257|870258|870259", + "upstreamId": "20418|141464|141466|141467|165472|165473|165474|237150|318169|318173|318177|318180|326177|326181|326186|326187|332336|332337|332338|332343|332345|333937|333942|333953|333960|333961|333962|333967|333979|333981|333985|333991|408728|549993|693265|693266|695580|738808|753533|870247|870248|870249|870250|870251|870252|870253|870254|870255|870256|870257|870258|870259", "text": "Combined oxidative phosphorylation deficiency 3" }, { - "baseId": "20419|20420|20421|20422|20423|34214|34215|34216|34217|34218|34219|34220|34221|34222|34223|34224|34225|34226|34227|34228|34229|34230|34231|34232|221642|221644|221645|239956|252546|301261|301262|304456|304457|304459|304461|304462|304463|304465|309042|309043|309056|309057|309060|309066|309067|309071|309072|309135|309137|309139|309145|309148|395264|395624|456499|522312|522661|561169|620244|635334|683829|683831|683834|683837|685202|685204|686932|765920|859569|897028|897029|897030|897031|897032|897033|897034|897035|897036|897037|897038|897039|897040|897041|897042|897043|897044|897045|897046|897047|897048|897049|897050|897051|897052|897053|900278|900279|900280|900281|900282|900283|900284|905731|905734", + "upstreamId": "20419|20420|20421|20422|20423|34214|34215|34216|34217|34218|34219|34220|34221|34222|34223|34224|34225|34226|34227|34228|34229|34230|34231|34232|221642|221644|221645|239956|252546|301261|301262|304456|304457|304459|304461|304462|304463|304465|309042|309043|309056|309057|309060|309066|309067|309071|309072|309135|309137|309139|309145|309148|395264|395624|456499|522312|522661|561169|620244|635334|683829|683831|683834|683837|685202|685204|686932|765920|859569|897028|897029|897030|897031|897032|897033|897034|897035|897036|897037|897038|897039|897040|897041|897042|897043|897044|897045|897046|897047|897048|897049|897050|897051|897052|897053|900278|900279|900280|900281|900282|900283|900284|905731|905734", "text": "Hemochromatosis type 3" }, { - "baseId": "20422", + "upstreamId": "20422", "text": "Hemochromatosis, type 1, modifier of" }, { - "baseId": "20424|794190|969326|976692", + "upstreamId": "20424|794190|969326|976692", "text": "Sudden infant death with dysgenesis of the testes syndrome" }, { - "baseId": "20425|20426|20427|20428|20429|20431|136325|136326|136344|142632|142633|211320|211324|211331|213577|303716|303727|303728|303733|303743|303746|303748|303751|303752|303755|307128|307129|307158|307163|307166|307179|307188|307192|307197|307198|307203|307206|307209|307215|307232|307233|307234|307239|307240|307246|312070|312074|312082|312084|312086|312087|312089|312090|312092|312093|312098|312099|312110|312119|312120|312121|312158|312160|312173|312175|312183|312185|312192|312195|421647|818390|818391|898570|898571|898572|898573|898574|898575|898576|898577|898578|898579|898580|898581|898582|898583|898584|898585|898586|898587|898588|898589|898590|898591|898592|970222", + "upstreamId": "20425|20426|20427|20428|20429|20431|136325|136326|136344|142632|142633|211320|211324|211331|213577|303716|303727|303728|303733|303743|303746|303748|303751|303752|303755|307128|307129|307158|307163|307166|307179|307188|307192|307197|307198|307203|307206|307209|307215|307232|307233|307234|307239|307240|307246|312070|312074|312082|312084|312086|312087|312089|312090|312092|312093|312098|312099|312110|312119|312120|312121|312158|312160|312173|312175|312183|312185|312192|312195|421647|818390|818391|898570|898571|898572|898573|898574|898575|898576|898577|898578|898579|898580|898581|898582|898583|898584|898585|898586|898587|898588|898589|898590|898591|898592|970222", "text": "Mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy" }, { - "baseId": "20425|20426|20427|20429|20430|20431|20432|20433|39389|39390|39391|39392|39393|136325|136326|136327|136328|136329|136330|136331|136332|136334|136335|136336|136337|136338|136339|136340|136341|136343|136344|136345|136346|136347|136349|136351", + "upstreamId": "20425|20426|20427|20429|20430|20431|20432|20433|39389|39390|39391|39392|39393|136325|136326|136327|136328|136329|136330|136331|136332|136334|136335|136336|136337|136338|136339|136340|136341|136343|136344|136345|136346|136347|136349|136351", "text": "RRM2B-related mitochondrial disease" }, { - "baseId": "20430|39389|39390|142632|142633|211324|303716|303727|303728|303733|303743|303746|303748|303751|303752|303755|307128|307129|307158|307163|307166|307179|307188|307192|307197|307198|307203|307206|307209|307215|307232|307233|307234|307239|307240|307246|312070|312074|312082|312084|312086|312087|312089|312090|312092|312093|312098|312099|312110|312119|312120|312121|312158|312160|312173|312175|312183|312185|312192|312195|898570|898571|898572|898573|898574|898575|898576|898577|898578|898579|898580|898581|898582|898583|898584|898585|898586|898587|898588|898589|898590|898591|898592", + "upstreamId": "20430|39389|39390|142632|142633|211324|303716|303727|303728|303733|303743|303746|303748|303751|303752|303755|307128|307129|307158|307163|307166|307179|307188|307192|307197|307198|307203|307206|307209|307215|307232|307233|307234|307239|307240|307246|312070|312074|312082|312084|312086|312087|312089|312090|312092|312093|312098|312099|312110|312119|312120|312121|312158|312160|312173|312175|312183|312185|312192|312195|898570|898571|898572|898573|898574|898575|898576|898577|898578|898579|898580|898581|898582|898583|898584|898585|898586|898587|898588|898589|898590|898591|898592", "text": "Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5" }, { - "baseId": "20432|20433", + "upstreamId": "20432|20433", "text": "Mitochondrial DNA depletion syndrome 8B (MNGIE type)" }, { - "baseId": "20434|20435|20436|20437|20438|48515|48516|48517|176026|176027|176592|176593|176594|176729|176731|176732|187130|231017|231018|231019|236928|333571|333575|333576|333578|333581|333584|343632|343636|343637|343642|343646|343648|343650|348947|348949|348950|348958|348959|348961|348966|348967|348975|348977|348978|348984|348986|349877|349878|349883|349886|349887|349891|349892|349895|349896|349899|379579|415657|446133|446134|497518|506759|506765|506778|507349|507779|621015|728195|741899|788928|882059|882060|882061|882062|882063|882064|882065|882066|882067|882068|882069|882070|882071|882072|882073|882074|882075|882076|882077|882078|882079|882080|882891|882892|882893|961348|966608", + "upstreamId": "20434|20435|20436|20437|20438|48515|48516|48517|176026|176027|176592|176593|176594|176729|176731|176732|187130|231017|231018|231019|236928|333571|333575|333576|333578|333581|333584|343632|343636|343637|343642|343646|343648|343650|348947|348949|348950|348958|348959|348961|348966|348967|348975|348977|348978|348984|348986|349877|349878|349883|349886|349887|349891|349892|349895|349896|349899|379579|415657|446133|446134|497518|506759|506765|506778|507349|507779|621015|728195|741899|788928|882059|882060|882061|882062|882063|882064|882065|882066|882067|882068|882069|882070|882071|882072|882073|882074|882075|882076|882077|882078|882079|882080|882891|882892|882893|961348|966608", "text": "Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities" }, { - "baseId": "20439|20440|20441|20442|45876|45877|45878|45879|152856|152858|192122|213523|226537|282233|283732|431008|433689|511021|513018|623250|790028|790029|790030|790031|799234|799235|799236|799237|799238|971540", + "upstreamId": "20439|20440|20441|20442|45876|45877|45878|45879|152856|152858|192122|213523|226537|282233|283732|431008|433689|511021|513018|623250|790028|790029|790030|790031|799234|799235|799236|799237|799238|971540", "text": "Retinitis pigmentosa 38" }, { - "baseId": "20443", + "upstreamId": "20443", "text": "Cardiac conduction defect, susceptibility to" }, { - "baseId": "20444|20445", + "upstreamId": "20444|20445", "text": "Asthma-related traits, susceptibility to, 1" }, { - "baseId": "20446|81545|302757|302765|302767|302772|302774|306082|306087|306094|306095|306097|306099|310857|310873|310874|310877|310885|310886|311037|311053|311054|353813|353814|897957|897958|897959|897960|897961|897962|897963|897964|897965|897966|897967|897968|897969|897970|897971|900351", + "upstreamId": "20446|81545|302757|302765|302767|302772|302774|306082|306087|306094|306095|306097|306099|310857|310873|310874|310877|310885|310886|311037|311053|311054|353813|353814|897957|897958|897959|897960|897961|897962|897963|897964|897965|897966|897967|897968|897969|897970|897971|900351", "text": "Microtia, hearing impairment, and cleft palate" }, { - "baseId": "20447|23223|23227|23228|23230|23306|23406|23801|29244|29245|31912|49908|614420|816334|980444|980451", + "upstreamId": "20447|23223|23227|23228|23230|23306|23406|23801|29244|29245|31912|49908|614420|816334|980444|980451", "text": "Human immunodeficiency virus type 1, susceptibility to" }, { - "baseId": "20447", + "upstreamId": "20447", "text": "Dengue fever, protection against" }, { - "baseId": "20447|20448|20578|20579|29246|32983|49355|288600|450762|576099|626125|980413|980453|980456", + "upstreamId": "20447|20448|20578|20579|29246|32983|49355|288600|450762|576099|626125|980413|980453|980456", "text": "Mycobacterium tuberculosis, susceptibility to" }, { - "baseId": "20449|20450|20451|20452|20453|20454|20455|20456|20457|70797|205544|205546|212126|238586|238587|250469|250470|250471|283572|283581|283586|283592|283598|283627|284249|284250|284251|284252|284253|284259|284261|284263|284269|284271|286257|286260|286262|286270|286273|286588|286589|286590|392375|392453|481106|481107|481108|481109|481110|481111|517467|517549|517553|517750|557798|620044|683464|683466|686100|686101|690993|758998|762742|781099|790139|795100|825517|825518|850825|883061|883062|883063|883064|883065|883066|883067|883068|883069|883070|883071|883072|887224|905729|905730|922498|931063|931064|942533", + "upstreamId": "20449|20450|20451|20452|20453|20454|20455|20456|20457|70797|205544|205546|212126|238586|238587|250469|250470|250471|283572|283581|283586|283592|283598|283627|284249|284250|284251|284252|284253|284259|284261|284263|284269|284271|286257|286260|286262|286270|286273|286588|286589|286590|392375|392453|481106|481107|481108|481109|481110|481111|517467|517549|517553|517750|557798|620044|683464|683466|686100|686101|690993|758998|762742|781099|790139|795100|825517|825518|850825|883061|883062|883063|883064|883065|883066|883067|883068|883069|883070|883071|883072|887224|905729|905730|922498|931063|931064|942533", "text": "Hemochromatosis type 4" }, { - "baseId": "20459|20460|20461|237519|257103|257104|257112|257116|417658|513056|590330|590331|590332|623354|818337|818338|919866|977361", + "upstreamId": "20459|20460|20461|237519|257103|257104|257112|257116|417658|513056|590330|590331|590332|623354|818337|818338|919866|977361", "text": "Focal segmental glomerulosclerosis 1" }, { - "baseId": "20462|20463|20464|47612|47614|47615|47616|47617|47618|47619|51205|174806|175218|230221|314604|314608|314615|321291|321308|321310|321316|321322|321326|327469|327470|327477|327478|327479|328514|328515|328518|371581|374180|413316|433523|461352|461355|461357|461359|461360|461363|461505|461508|461509|461511|461518|461521|461533|461857|461863|461866|461873|461885|461886|462214|462218|462219|462220|462221|462225|462226|503348|512852|526395|526401|526402|526432|526438|526686|526690|526691|526692|526923|526925|526926|526933|564847|564851|566068|567455|567457|570837|570843|570849|640328|640329|640330|640331|640332|640333|640334|640335|652383|693090|738153|768609|768610|816321|820404|838762|838763|838764|838765|838766|838767|838768|838769|838770|838771|838772|838773|838774|838775|851451|852385|868278|868279|868280|868281|868282|868283|868284|868285|903580|926344|926345|935691|935692|940228|940229|956588|970526", + "upstreamId": "20462|20463|20464|47612|47614|47615|47616|47617|47618|47619|51205|174806|175218|230221|314604|314608|314615|321291|321308|321310|321316|321322|321326|327469|327470|327477|327478|327479|328514|328515|328518|371581|374180|413316|433523|461352|461355|461357|461359|461360|461363|461505|461508|461509|461511|461518|461521|461533|461857|461863|461866|461873|461885|461886|462214|462218|462219|462220|462221|462225|462226|503348|512852|526395|526401|526402|526432|526438|526686|526690|526691|526692|526923|526925|526926|526933|564847|564851|566068|567455|567457|570837|570843|570849|640328|640329|640330|640331|640332|640333|640334|640335|652383|693090|738153|768609|768610|816321|820404|838762|838763|838764|838765|838766|838767|838768|838769|838770|838771|838772|838773|838774|838775|851451|852385|868278|868279|868280|868281|868282|868283|868284|868285|903580|926344|926345|935691|935692|940228|940229|956588|970526", "text": "Autosomal recessive cutis laxa type 1B" }, { - "baseId": "20462|20463|20464|20514|34302|34303|34305|34306|47612|47613|47614|47615|47616|47617|47618|47619|215086|404820|677447|983565", + "upstreamId": "20462|20463|20464|20514|34302|34303|34305|34306|47612|47613|47614|47615|47616|47617|47618|47619|215086|404820|677447|983565", "text": "Autosomal recessive cutis laxa type IA" }, { - "baseId": "20465|20466", + "upstreamId": "20465|20466", "text": "Obesity, mild, early-onset" }, { - "baseId": "20467|143247|143248|187181|253982|253983|253985|312047|312053|312058|312059|312063|312068|312072|317718|317722|323737|323738|323744|323754|323759|323760|323763|324457|324461|324462|324463|324469|324470|324479|620376|701531|712556|866796|866797|866798|866799|866800|866801|866802|866803|866804|866805|866806|866807|866808|866809|866810|866811|866812|866813|866814|866815|866816|866817|866818|866819|868579|868580|906310|906311|906312|906313", + "upstreamId": "20467|143247|143248|187181|253982|253983|253985|312047|312053|312058|312059|312063|312068|312072|317718|317722|323737|323738|323744|323754|323759|323760|323763|324457|324461|324462|324463|324469|324470|324479|620376|701531|712556|866796|866797|866798|866799|866800|866801|866802|866803|866804|866805|866806|866807|866808|866809|866810|866811|866812|866813|866814|866815|866816|866817|866818|866819|868579|868580|906310|906311|906312|906313", "text": "Amelogenesis imperfecta, hypomaturation type, IIA2" }, { - "baseId": "20468|297818|297827|299996|299998|300005|304231|304233|304234|304562|455026|455205|455929|521569|521574|622352|633975|799420|819598|830886|830887|894520|894521|894522|894523|894524|894525|918972|944636", + "upstreamId": "20468|297818|297827|299996|299998|300005|304231|304233|304234|304562|455026|455205|455929|521569|521574|622352|633975|799420|819598|830886|830887|894520|894521|894522|894523|894524|894525|918972|944636", "text": "Distal hereditary motor neuronopathy type 2C" }, { - "baseId": 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+ "upstreamId": 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"text": "Familial temporal lobe epilepsy 1" }, { - "baseId": "20479|20480|20481|20482|277060|277076|277077|277078|277080|277081|277084|277086|277089|277090|277091|277310|277316|277317|277320|277321|277322|277336|277337|277343|277349|277351|277352|277353|277356|277357|278081|278085|278088|278093|278094|278097|278103|278105|278112|278113|278124|278130|278136|278137|278138|278139|278140|278141|278161|278178|278194|278195|278196|278198|278208|278213|278214|481487|486794|551683|551684|551685|551686|551687|551688|552037|578341|578342|578343|578344|718358|816435|816436|862657|862658|862659|862660|862661|862662|862663|862664|862665|862666|862667|862668|862669|862670|862671|862672|862673|862674|862675|964719", + "upstreamId": "20479|20480|20481|20482|277060|277076|277077|277078|277080|277081|277084|277086|277089|277090|277091|277310|277316|277317|277320|277321|277322|277336|277337|277343|277349|277351|277352|277353|277356|277357|278081|278085|278088|278093|278094|278097|278103|278105|278112|278113|278124|278130|278136|278137|278138|278139|278140|278141|278161|278178|278194|278195|278196|278198|278208|278213|278214|481487|486794|551683|551684|551685|551686|551687|551688|552037|578341|578342|578343|578344|718358|816435|816436|862657|862658|862659|862660|862661|862662|862663|862664|862665|862666|862667|862668|862669|862670|862671|862672|862673|862674|862675|964719", "text": "Adrenocorticotropic hormone deficiency" }, { - "baseId": 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"text": "Werner syndrome" }, { - "baseId": 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"text": "Bloom syndrome" }, { - "baseId": "20497|970751", + "upstreamId": "20497|970751", "text": "Coronary heart disease 5" }, { - "baseId": 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"text": "Autosomal recessive osteopetrosis 1" }, { - "baseId": "20509|20510|20511|20512|20513|39380|39381|39382|46948|46950|46953|46954|133735|133736|140015|140016|140017|140019|140020|211841|211843|211847|211847|330736|330737|330741|330745|330746|330748|340961|340962|346543|346544|346546|346552|346554|346559|346563|346564|347859|347862|347867|347870|347875|347878|347880|347883|347884|438068|539078|626320|656483|798730|798731|878921|878922|878923|878924|878925|878926|878927|878928|878929|878930|878931|878932|964496", + "upstreamId": "20509|20510|20511|20512|20513|39380|39381|39382|46948|46950|46953|46954|133735|133736|140015|140016|140017|140019|140020|211841|211843|211847|211847|330736|330737|330741|330745|330746|330748|340961|340962|346543|346544|346546|346552|346554|346559|346563|346564|347859|347862|347867|347870|347875|347878|347880|347883|347884|438068|539078|626320|656483|798730|798731|878921|878922|878923|878924|878925|878926|878927|878928|878929|878930|878931|878932|964496", "text": "Spinocerebellar ataxia type 28" }, { - "baseId": "20516|20517|20518|20519|20520|20521|20522|34305|175949|175950|176093|215085|215086|215087|230548|271430|321750|321753|321755|331029|331030|331034|331035|331036|331042|331043|331052|331055|331057|331059|337765|337766|337769|337776|337778|337795|337810|337816|339775|339776|339784|339788|339794|339796|339800|339807|339808|339809|404820|677447|872913|872914|872915|872916|872917|872918|872919|872920|872921|872922|872923|872924|876464", + "upstreamId": "20516|20517|20518|20519|20520|20521|20522|34305|175949|175950|176093|215085|215086|215087|230548|271430|321750|321753|321755|331029|331030|331034|331035|331036|331042|331043|331052|331055|331057|331059|337765|337766|337769|337776|337778|337795|337810|337816|339775|339776|339784|339788|339794|339796|339800|339807|339808|339809|404820|677447|872913|872914|872915|872916|872917|872918|872919|872920|872921|872922|872923|872924|876464", "text": "Age-related macular degeneration 3" }, { - "baseId": "20520|21598|28229|34305|175949|175950|176093|215086|215087|230548|266502|271430|321750|321753|321755|330599|330600|330602|330603|330606|331029|331030|331034|331035|331036|331042|331043|331052|331055|331057|331059|337765|337766|337769|337776|337778|337795|337810|337816|339775|339776|339784|339788|339794|339796|339800|339807|339808|339809|340837|340843|340860|340861|340868|340869|346450|346452|346454|347785|347787|347788|347789|347790|347791|347792|347796|347799|347800|347801|347802|347803|656478|797630|801921|872913|872914|872915|872916|872917|872918|872919|872920|872921|872922|872923|872924|876464|878833|878834|878835|878836|878837|878838|878839|878840|878841|878842|878843|878844|880629", + "upstreamId": "20520|21598|28229|34305|175949|175950|176093|215086|215087|230548|266502|271430|321750|321753|321755|330599|330600|330602|330603|330606|331029|331030|331034|331035|331036|331042|331043|331052|331055|331057|331059|337765|337766|337769|337776|337778|337795|337810|337816|339775|339776|339784|339788|339794|339796|339800|339807|339808|339809|340837|340843|340860|340861|340868|340869|346450|346452|346454|347785|347787|347788|347789|347790|347791|347792|347796|347799|347800|347801|347802|347803|656478|797630|801921|872913|872914|872915|872916|872917|872918|872919|872920|872921|872922|872923|872924|876464|878833|878834|878835|878836|878837|878838|878839|878840|878841|878842|878843|878844|880629", "text": "Cutis laxa" }, { - "baseId": 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"Exudative vitreoretinopathy 1" }, { - "baseId": "20525", + "upstreamId": "20525", "text": "Exudative vitreoretinopathy, digenic" }, { - "baseId": "20528", + "upstreamId": "20528", "text": "Retinopathy of prematurity" }, { - "baseId": 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"text": "Pitt-Hopkins-like syndrome 1" }, { - "baseId": "20530|20531|20532|134257|140512|177117|177379|191564|192670|193620|202030|202031|202036|202047|202063|202065|202077|202083|202100|202105|202107|202122|407033|407037|444088|566547|566548|614311", + "upstreamId": "20530|20531|20532|134257|140512|177117|177379|191564|192670|193620|202030|202031|202036|202047|202063|202065|202077|202083|202100|202105|202107|202122|407033|407037|444088|566547|566548|614311", "text": "Autism 15" }, { - "baseId": 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"text": "Ehlers-Danlos syndrome dermatosparaxis type" }, { - "baseId": "20544|20545|965641", + "upstreamId": "20544|20545|965641", "text": "Retinitis pigmentosa 46" }, { - "baseId": "20546|89015|247049|390502|433381|437874|460362|460419|460421|460704|461181|525541|525542|525543|525545|525635|525824|563498|564065|564066|564952|566663|569911|639332|639333|639334|639335|639336|639337|639338|652121|652169|652356|724133|737661|744520|752350|752351|752352|752354|768082|779659|799626|820285|837532|837533|837534|837535|837536|837537|837538|837539|837540|837541|837542|837543|925988|925989|925990|940975|947162|956292|960737|964669", + "upstreamId": "20546|89015|247049|390502|433381|437874|460362|460419|460421|460704|461181|525541|525542|525543|525545|525635|525824|563498|564065|564066|564952|566663|569911|639332|639333|639334|639335|639336|639337|639338|652121|652169|652356|724133|737661|744520|752350|752351|752352|752354|768082|779659|799626|820285|837532|837533|837534|837535|837536|837537|837538|837539|837540|837541|837542|837543|925988|925989|925990|940975|947162|956292|960737|964669", "text": "Agammaglobulinemia 4, autosomal recessive" }, { - "baseId": 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+ "upstreamId": 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"text": "Achondrogenesis, type IA" }, { - "baseId": "20547|513449|513450|610502|610504|610505|610507", + "upstreamId": "20547|513449|513450|610502|610504|610505|610507", "text": "Goldblatt hypertension" }, { - "baseId": 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"text": "Charlevoix-Saguenay spastic ataxia" }, { - "baseId": "20562|133805|133806|133807|133808|133809|207213|207213|237097|237122|297310|297311|297312|297316|297317|297326|299313|299315|299316|299317|299318|299328|299329|299332|299333|303522|303527|303528|303529|303532|303535|303538|303540|303541|303542|303545|303765|303767|303778|303790|303807|303809|303815|303819|303828|303849|303850|303856|368156|369835|369853|494217|494217|501183|588163|588758|620195|790551|790552|830836|894114|894115|894116|894117|894118|894119|894120|894121|894122|894123|894124|894125|894126|894127|894128|894129|894130|894131|894132|894133|894134|894135|894136|896091", + "upstreamId": 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"20564|20565|53873|53875|53876|53877|53881|150263|176490|178715|189965|192360|198471|198473|213643|273206|338243|344342|344344|344346|344351|345772|467823|513211|802218|877391|877392|877393|877394|877395", + "upstreamId": "20564|20565|53873|53875|53876|53877|53881|150263|176490|178715|189965|192360|198471|198473|213643|273206|338243|344342|344344|344346|344351|345772|467823|513211|802218|877391|877392|877393|877394|877395", "text": "Autosomal recessive limb-girdle muscular dystrophy type 2G" }, { - "baseId": 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+ "upstreamId": "20566|23641|23642|23643|23647|23647|23649|23651|23653|23655|23656|23658|23660|39098|39099|45263|45264|45266|45266|45269|45272|45275|45276|45277|45725|51668|51669|51673|51676|51678|51685|51688|51691|51694|51695|51703|51705|51706|51710|51711|51713|51715|51716|51719|51732|51733|51735|51736|51737|51738|51742|51746|51747|51747|51755|51755|51769|51777|51777|51778|51780|51788|51789|51790|51796|51797|51805|51806|51808|51814|51815|51817|51821|51822|51823|51826|51828|51833|51834|51836|51839|51841|51852|51857|51858|51860|51862|51870|51873|51875|51876|51876|51879|51881|51882|51885|51889|51895|51896|51905|51906|51910|51914|51922|51926|51928|51930|51931|51933|51937|51938|51941|51942|51945|51947|51948|51949|51950|51956|51959|51962|51962|51963|51966|51967|51970|51971|51974|51976|51977|51977|51980|51983|51985|75578|75580|142020|142022|142024|142029|165560|165560|171133|171136|171136|171139|171141|171142|171143|171144|171145|171146|171147|172177|174731|174737|174756|174757|174761|174764|174770|174773|174775|174776|174776|174778|174779|174785|175138|175139|175143|175146|175150|175168|175171|175175|175188|175197|175201|175203|179171|179196|179223|179232|179233|179266|179279|179299|179321|179338|179343|179351|179357|179373|179397|186345|186368|186384|186400|186404|186405|189889|193011|212928|212929|213610|214109|214110|214111|214112|214113|214115|214116|214117|214119|214120|222146|248633|248634|248635|260509|314276|320888|326913|326929|326930|326931|326940|326949|327964|327976|327977|362227|371466|372203|372209|374122|384440|390042|398206|398754|404802|415274|418554|419284|424284|430964|430982|434640|461358|461632|461652|461957|461980|462012|504238|508865|508866|512848|512849|512927|513091|526245|564717|613612|615940|617882|620403|625810|625811|679781|791140|791141|791142|818289|868092|868093|868094|868095|868096|868097|868098|868099|868100|868101|868102|868103|868104|868656|868657|868658|919366|919367|948496|966806|974493|980341", "text": "Familial hypertrophic cardiomyopathy 4" }, { - "baseId": "20568|20569|20569|20570|20571|20571|20571|101477|101478|101478|152864|152864|152865|177019|177282|188865|188865|255338|255339|255339|266504|271074|323250|323250|323251|323259|323259|323260|323266|323267|323270|323277|323283|323284|332935|332936|332942|332943|332946|332951|332952|332960|332962|332962|332965|332968|339806|339813|339814|339821|339823|341239|341242|341243|341247|341248|353881|415445|488487|547507|547508|547511|547514|547516|547531|547533|547535|547539|547541|547544|547548|547739|547750|547752|548162|548164|548166|548167|548169|548173|548174|548174|714579|754646|754647|754648|770312|770314|770315|784992|784993|787896|800699|842642|842649|842650|874060|874061|874062|874063|874064|874065|874066|874067|874068|874069|874070|874071|874072|876563|876564|919593", + "upstreamId": "20568|20569|20569|20570|20571|20571|20571|101477|101478|101478|152864|152864|152865|177019|177282|188865|188865|255338|255339|255339|266504|271074|323250|323250|323251|323259|323259|323260|323266|323267|323270|323277|323283|323284|332935|332936|332942|332943|332946|332951|332952|332960|332962|332962|332965|332968|339806|339813|339814|339821|339823|341239|341242|341243|341247|341248|353881|415445|488487|547507|547508|547511|547514|547516|547531|547533|547535|547539|547541|547544|547548|547739|547750|547752|548162|548164|548166|548167|548169|548173|548174|548174|714579|754646|754647|754648|770312|770314|770315|784992|784993|787896|800699|842642|842649|842650|874060|874061|874062|874063|874064|874065|874066|874067|874068|874069|874070|874071|874072|876563|876564|919593", "text": "Enhanced s-cone syndrome" }, { - "baseId": "20569|20571|20571|188865|620527", + "upstreamId": "20569|20571|20571|188865|620527", "text": "NR2E3-Related Disorders" }, { - "baseId": "20569|20571|20572|20573|101477|101478|101478|152864|152865|181279|188865|188865|188868|255339|255339|271074|323250|323259|332962|415445|488487|547507|547508|547511|547514|547516|547531|547533|547535|547539|547541|547544|547548|547739|547750|547752|548162|548164|548166|548167|548169|548173|548174|714579|754648|779806|842650|874065|874066|874073", + "upstreamId": "20569|20571|20572|20573|101477|101478|101478|152864|152865|181279|188865|188865|188868|255339|255339|271074|323250|323259|332962|415445|488487|547507|547508|547511|547514|547516|547531|547533|547535|547539|547541|547544|547548|547739|547750|547752|548162|548164|548166|548167|548169|548173|548174|714579|754648|779806|842650|874065|874066|874073", "text": "Retinitis pigmentosa 37" }, { - "baseId": "20571|101477|177019|177282|188865|255338|255339|271074|323267|332946|332962|415445|547750|623884|726224|726225|754648|770313|776093|797186|799817|842640|842641|842642|874063|874064|957486|957489|957492|979636|979637|979638|979639|979640|979641|979642|979643|979644|979645|979646|979647|979648|979649|979650|979651|979652|979653|979654|979655|979656", + "upstreamId": "20571|101477|177019|177282|188865|255338|255339|271074|323267|332946|332962|415445|547750|623884|726224|726225|754648|770313|776093|797186|799817|842640|842641|842642|874063|874064|957486|957489|957492|979636|979637|979638|979639|979640|979641|979642|979643|979644|979645|979646|979647|979648|979649|979650|979651|979652|979653|979654|979655|979656", "text": "Goldmann-Favre syndrome" }, { - "baseId": "20574|20575", + "upstreamId": "20574|20575", "text": "Asthma-related traits, susceptibility to, 5" }, { - "baseId": "20576|20577|76651|76652|76655|76656|187109|237011|285197|285198|285199|285206|285212|285213|285871|285872|285873|285874|285890|285891|285894|288158|288161|288165|288166|288172|288173|288174|288178|288179|288180|288582|288584|288585|288586|288587|288593|288598|288600|288600|288602|288604|288606|288610|353562|450684|450762|450762|450764|450769|512809|516210|517874|517876|517879|517954|517956|557900|557902|557953|557955|561026|561039|561040|561044|576099|620068|629521|629522|629523|629524|629525|629526|629527|629528|629529|629530|629531|629532|629533|629534|629535|629536|629537|629538|708089|719690|719691|719693|719694|719695|733248|747395|747397|747399|759106|763031|763033|763036|819015|819135|825828|825829|825830|825831|825832|825833|825834|825835|825836|825837|825838|825839|825840|825841|825842|825843|851158|851406|884086|884087|884088|884089|884090|884091|884092|884093|884094|884095|884096|884097|884098|887307|887308|887309|887310|931173|931174|931175|942639|942640|942641|942642|952964|952965|960465|980413", + "upstreamId": "20576|20577|76651|76652|76655|76656|187109|237011|285197|285198|285199|285206|285212|285213|285871|285872|285873|285874|285890|285891|285894|288158|288161|288165|288166|288172|288173|288174|288178|288179|288180|288582|288584|288585|288586|288587|288593|288598|288600|288600|288602|288604|288606|288610|353562|450684|450762|450762|450764|450769|512809|516210|517874|517876|517879|517954|517956|557900|557902|557953|557955|561026|561039|561040|561044|576099|620068|629521|629522|629523|629524|629525|629526|629527|629528|629529|629530|629531|629532|629533|629534|629535|629536|629537|629538|708089|719690|719691|719693|719694|719695|733248|747395|747397|747399|759106|763031|763033|763036|819015|819135|825828|825829|825830|825831|825832|825833|825834|825835|825836|825837|825838|825839|825840|825841|825842|825843|851158|851406|884086|884087|884088|884089|884090|884091|884092|884093|884094|884095|884096|884097|884098|887307|887308|887309|887310|931173|931174|931175|942639|942640|942641|942642|952964|952965|960465|980413", "text": "Hepatic veno-occlusive disease-immunodeficiency syndrome" }, { - "baseId": "20580|181292", + "upstreamId": "20580|181292", "text": "Periodic paralysis" }, { - "baseId": "20580|56917|172391|360851|677212|858248|965299|966322", + "upstreamId": "20580|56917|172391|360851|677212|858248|965299|966322", "text": "Syncope" }, { - "baseId": "20580|24422|33099|45303|51657|52214|52852|56289|56302|56725|56834|78541|178442|178587|178612|178738|178748|178751|186553|188445|188662|189293|189476|196540|198436|224325|224357|224385|224454|224543|360883|513956|679381", + "upstreamId": "20580|24422|33099|45303|51657|52214|52852|56289|56302|56725|56834|78541|178442|178587|178612|178738|178748|178751|186553|188445|188662|189293|189476|196540|198436|224325|224357|224385|224454|224543|360883|513956|679381", "text": "Ventricular fibrillation" }, { - "baseId": "20580|20581|131959|188516|188517|254321|258710|389949|389950|461990|526477|526536|526541|526772|567545|567549|640464|687824|839007", + "upstreamId": "20580|20581|131959|188516|188517|254321|258710|389949|389950|461990|526477|526536|526541|526772|567545|567549|640464|687824|839007", "text": "Brugada syndrome 6" }, { - "baseId": "20580|131959|432260|432261|432262", + "upstreamId": "20580|131959|432260|432261|432262", "text": "Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities" }, { - "baseId": "20582|20583|20583|20584|54668|54669|54670|186435|193603|227351|319135|333885|413171|415371|527511|641581|652763|840578|957027", + "upstreamId": "20582|20583|20583|20584|54668|54669|54670|186435|193603|227351|319135|333885|413171|415371|527511|641581|652763|840578|957027", "text": "Deafness, autosomal dominant 3b" }, { - "baseId": "20583|20583|20583|20584|20584|20586|54667|54668|54668|54669|54669|54670|54670|54671|54673|175769|186435|186435|193603|193603|269638|319127|319135|319135|319136|319140|319142|319151|327587|327588|327593|327594|327596|327597|327606|327612|327613|333867|333869|333878|333880|333885|333885|333886|333888|335558|335559|335562|335566|335567|335577|335578|415371|527511|641581|652763|656196|738987|840578|870846|870847|870848|870849|870850|870851|870852|870853|870854|870855|870856|870857|870858|870859|957027", + "upstreamId": "20583|20583|20583|20584|20584|20586|54667|54668|54668|54669|54669|54670|54670|54671|54673|175769|186435|186435|193603|193603|269638|319127|319135|319135|319136|319140|319142|319151|327587|327588|327593|327594|327596|327597|327606|327612|327613|333867|333869|333878|333880|333885|333885|333886|333888|335558|335559|335562|335566|335567|335577|335578|415371|527511|641581|652763|656196|738987|840578|870846|870847|870848|870849|870850|870851|870852|870853|870854|870855|870856|870857|870858|870859|957027", "text": "Hidrotic ectodermal dysplasia syndrome" }, { - "baseId": 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+ "upstreamId": 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"text": "Deafness, autosomal recessive 1A" }, { - "baseId": "20583|20583|20584|20585|32039|32040|32041|32042|32043|32049|32053|32055|32062|32068|53903|53904|53907|53916|53918|53930|54668|54669|54670|186435|193603|227351|319135|333885|415371|527511|641581|652763|840578|904218|957027", + "upstreamId": "20583|20583|20584|20585|32039|32040|32041|32042|32043|32049|32053|32055|32062|32068|53903|53904|53907|53916|53918|53930|54668|54669|54670|186435|193603|227351|319135|333885|415371|527511|641581|652763|840578|904218|957027", "text": "Deafness, autosomal recessive 1b" }, { - "baseId": "20583|26716|26717|26718|26719|26720|26721|26722|26723|49893|49894|52519|52521|52522|166083|176453|237626|339618|349115|352457|352458|352965|389256|404600|415371|551802|590644|615835|800323|800324|903250|903251|903252|903253|903254", + "upstreamId": "20583|26716|26717|26718|26719|26720|26721|26722|26723|49893|49894|52519|52521|52522|166083|176453|237626|339618|349115|352457|352458|352965|389256|404600|415371|551802|590644|615835|800323|800324|903250|903251|903252|903253|903254", "text": "Deafness, X-linked 2" }, { - "baseId": "20585|20587|32043", + "upstreamId": "20585|20587|32043", "text": "Deafness, digenic, GJB2/GJB6" }, { - "baseId": "20588|20589|20590|20591|20592|20593|20594|266325|271393|320090|320091|320093|320094|320095|320099|320101|320105|320107|320109|320110|320113|320116|320117|320118|320119|320123|328635|328637|328638|328640|328641|328642|328646|328649|328653|328666|328669|328680|328685|328686|328704|328705|335195|335204|335219|335225|335233|335234|335236|335238|335239|335247|335257|335262|335281|335282|335285|335298|335302|335306|335308|335310|335313|335326|337079|337080|337083|337087|337090|337096|337099|337101|337103|337110|337113|337119|337125|337147|337148|337155|337158|337163|337168|337169|337182|586697|725530|871570|871571|871572|871573|871574|871575|871576|871577|871578|871579|871580|871581|871582|871583|871584|871585|871586|871587|871588|871589|871590|871591|871592|871593|871594|871595|871596|871597|871598|871599|871600|871601|871602|871603|871604|871605|871606|871607|871608|872348|872349", + "upstreamId": "20588|20589|20590|20591|20592|20593|20594|266325|271393|320090|320091|320093|320094|320095|320099|320101|320105|320107|320109|320110|320113|320116|320117|320118|320119|320123|328635|328637|328638|328640|328641|328642|328646|328649|328653|328666|328669|328680|328685|328686|328704|328705|335195|335204|335219|335225|335233|335234|335236|335238|335239|335247|335257|335262|335281|335282|335285|335298|335302|335306|335308|335310|335313|335326|337079|337080|337083|337087|337090|337096|337099|337101|337103|337110|337113|337119|337125|337147|337148|337155|337158|337163|337168|337169|337182|586697|725530|871570|871571|871572|871573|871574|871575|871576|871577|871578|871579|871580|871581|871582|871583|871584|871585|871586|871587|871588|871589|871590|871591|871592|871593|871594|871595|871596|871597|871598|871599|871600|871601|871602|871603|871604|871605|871606|871607|871608|872348|872349", "text": "Autosomal recessive omodysplasia" }, { - "baseId": 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"20595|135828|135829|150252|190425|194385|194918|195660|195661|239020|239021|248759|248760|266968|287435|287436|287438|287442|287444|287445|287447|287451|287452|287456|288222|288228|288229|288231|288251|288252|290891|290893|290902|290905|290923|290925|290926|291159|291167|291168|353577|353578|361612|393118|451472|451477|451727|451934|451940|451941|513527|513609|518646|518648|558688|558690|559164|559189|559190|559191|560979|560983|560985|560987|560990|562095|614253|630596|630597|630598|630599|630600|630601|630602|630603|630604|653855|683518|683519|683520|686268|689720|719987|816446|819277|827077|827078|827079|827080|827081|827082|827083|827084|827085|885587|885588|885589|885590|885591|885592|885593|885594|885595|885596|885597|885598|885599|885600|885601|887409|887410|922937|922938|922939|922940|931607|931608|931609|931610|931611|940725|943138|943139|943140|943141|943142|943143|953246|953247|953248", "text": "Salt and pepper developmental regression syndrome" }, { - "baseId": 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+ "upstreamId": 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"text": "Hereditary nonpolyposis colorectal cancer type 7" }, { - "baseId": 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+ "upstreamId": "20599|32117|32118|32119|32120|32123|32124|32126|32127|32128|32129|32130|32131|32133|32135|32136|32137|32138|32138|32140|32141|32144|32145|38609|38610|38612|45201|45202|45202|45203|45204|45205|45207|45208|45209|45210|45212|45215|45218|45219|45220|45221|50071|50071|50072|50072|50073|50074|50075|50076|50077|50078|50079|51666|79740|79742|95060|95061|95062|95063|95064|95067|95074|95078|95079|95079|95088|95117|95127|95127|95130|95162|95164|95170|95179|95179|95186|95211|95218|95218|95219|95225|95225|95227|95229|95257|95265|95267|95286|95324|95331|95357|95362|95369|95377|95380|95381|95404|95405|95406|95406|95427|95455|95466|95475|95481|95484|95485|95487|95488|95488|95490|95506|95516|95524|95527|95541|95552|95556|95556|95574|95575|95578|95586|95592|95600|95601|95606|95606|95614|95622|95622|95625|95650|95650|95657|95658|95671|95697|95703|95717|95731|95734|95755|95759|95760|95765|95767|95777|95780|95780|95785|95792|95793|95805|95809|95821|95829|95848|95855|95856|95865|95866|95871|95884|95887|95892|95898|95916|95916|95919|95926|95926|95927|95930|133066|133068|133069|133070|133071|133072|133072|133073|133074|133076|133076|136506|138395|138396|138397|139300|139556|139557|139558|139559|139565|141933|150473|150473|151156|151605|151990|152372|152378|152604|152694|180128|180138|180140|180142|180145|180148|180149|180152|180153|181203|181204|182215|182223|182224|182226|182235|182236|182239|182251|182252|182256|182257|182257|182265|182268|182276|182278|182281|182281|182282|182287|182288|182292|186016|186017|190024|212297|212305|212322|212324|212327|214628|221383|221389|221394|221395|221396|221397|221398|221405|231616|231617|232906|232916|232918|232919|232933|232954|232970|232979|239144|239148|239149|239158|239159|239160|239176|239185|290136|290137|294018|294022|294543|294552|294554|358735|358736|358737|358738|358739|358740|358741|358742|358743|358744|358745|358746|358747|358748|368417|368440|368462|393482|393502|393512|393843|393915|406198|406206|406222|406233|406236|427213|432572|443419|443422|452376|452387|452453|473370|473413|473493|473568|473649|473667|480464|483541|483578|537752|537753|539233|539234|558896|562700|575698|575699|575700|575701|575702|575707|576258|789083|790382|790383|790384|790385|790386|790387|790388|790389|790390|799033|888749|888750|903520|961842|967148", "text": "Lynch syndrome II" }, { - "baseId": "20604|20605|20606|76616|76617|76618|76619|76620|101479|101480|101481|105678|105679|105680|105683|105685|105686|105687|105689|105690|105694|105695|105697|106462|177290|177472|193623|193625|193626|195369|195369|256338|275237|329401|329410|329412|329418|329421|329426|329430|329440|329442|329444|329445|329448|329449|329452|339690|339706|339707|339710|339715|339716|339722|339724|339730|339737|339740|339742|345426|345432|345436|345437|345443|345449|345456|345458|345460|345462|345465|346798|346799|346800|346801|346803|346806|346812|346815|346816|346818|346819|413455|569528|569530|578348|578349|626259|694163|694164|704291|704293|727351|727352|771727|797589|800611|845909|845910|845911|845912|845913|845914|845915|845916|845917|845918|845919|845920|845921|852906|860427|878167|878168|878169|878170|878171|878172|878173|878174|878175|878176|878177|878178|878179|878180|878181|878182|878183|878184|878185|878186|878187|878188|878189|904952|904953|904954|904955|904956|904957|904958|904959|904960|904961|904962|904963|920605|940427|950147|950148|950149|950150|950151|950152|950153|958250|960892", + "upstreamId": "20604|20605|20606|76616|76617|76618|76619|76620|101479|101480|101481|105678|105679|105680|105683|105685|105686|105687|105689|105690|105694|105695|105697|106462|177290|177472|193623|193625|193626|195369|195369|256338|275237|329401|329410|329412|329418|329421|329426|329430|329440|329442|329444|329445|329448|329449|329452|339690|339706|339707|339710|339715|339716|339722|339724|339730|339737|339740|339742|345426|345432|345436|345437|345443|345449|345456|345458|345460|345462|345465|346798|346799|346800|346801|346803|346806|346812|346815|346816|346818|346819|413455|569528|569530|578348|578349|626259|694163|694164|704291|704293|727351|727352|771727|797589|800611|845909|845910|845911|845912|845913|845914|845915|845916|845917|845918|845919|845920|845921|852906|860427|878167|878168|878169|878170|878171|878172|878173|878174|878175|878176|878177|878178|878179|878180|878181|878182|878183|878184|878185|878186|878187|878188|878189|904952|904953|904954|904955|904956|904957|904958|904959|904960|904961|904962|904963|920605|940427|950147|950148|950149|950150|950151|950152|950153|958250|960892", "text": "Leber congenital amaurosis 4" }, { - "baseId": "20604|620600|620601", + "upstreamId": "20604|620600|620601", "text": "AIPL1-Related Disorders" }, { - "baseId": "20607", + "upstreamId": "20607", "text": "Juvenile retinitis pigmentosa, AIPL1-related" }, { - "baseId": "20607", + "upstreamId": "20607", "text": "CONE-ROD DYSTROPHY, AIPL1-RELATED" }, { - "baseId": "20608|20609|20610|20611|20612|20613|20615|20616|20616|20617|20617|20618|20618|20619|20619|204427|253014|253015|253016|263045|263045|270799|307588|307605|307633|312643|312646|312652|312662|312727|312731|360897|360897|432057|432058|432059|432060|432061|432062|432063|432064|432064|432065|432066|432067|432068|432069|432070|432071|432071|432072|432073|432073|432074|432075|432076|432077|432078|432079|432080|432081|432082|432083|432084|432085|432086|432087|457129|513582|523431|561897|561898|562335|562337|564540|564578|567295|590566|590567|590568|611976|623186|636540|636541|636542|636543|651910|679759|682809|700352|700353|700356|722803|722804|736399|736400|782983|819934|834034|834035|834036|834037|834038|834039|834040|834041|919135|924980|924981|924982|934063|934064|934065|955274|959873|961031|969545|970060", + "upstreamId": "20608|20609|20610|20611|20612|20613|20615|20616|20616|20617|20617|20618|20618|20619|20619|204427|253014|253015|253016|263045|263045|270799|307588|307605|307633|312643|312646|312652|312662|312727|312731|360897|360897|432057|432058|432059|432060|432061|432062|432063|432064|432064|432065|432066|432067|432068|432069|432070|432071|432071|432072|432073|432073|432074|432075|432076|432077|432078|432079|432080|432081|432082|432083|432084|432085|432086|432087|457129|513582|523431|561897|561898|562335|562337|564540|564578|567295|590566|590567|590568|611976|623186|636540|636541|636542|636543|651910|679759|682809|700352|700353|700356|722803|722804|736399|736400|782983|819934|834034|834035|834036|834037|834038|834039|834040|834041|919135|924980|924981|924982|934063|934064|934065|955274|959873|961031|969545|970060", "text": "Trichorhinophalangeal dysplasia type I" }, { - "baseId": "20614|20616|20616|20617|20617|20618|20619|253014|253015|263045|270799|307588|307605|307633|312643|312646|312652|312662|312727|312731|360897|432064|432071|432073|457129|523431|561897|561898|562335|562337|564540|564578|567295|636540|636541|636542|636543|651910|700352|700353|700356|722803|722804|736399|736400|782983|819934|834034|834035|834036|834037|834038|834039|834040|834041|924980|924981|924982|934063|934064|934065|955274|959873", + "upstreamId": "20614|20616|20616|20617|20617|20618|20619|253014|253015|263045|270799|307588|307605|307633|312643|312646|312652|312662|312727|312731|360897|432064|432071|432073|457129|523431|561897|561898|562335|562337|564540|564578|567295|636540|636541|636542|636543|651910|700352|700353|700356|722803|722804|736399|736400|782983|819934|834034|834035|834036|834037|834038|834039|834040|834041|924980|924981|924982|934063|934064|934065|955274|959873", "text": "Trichorhinophalangeal syndrome, type III" }, { - "baseId": "20620|20621|20622|20624|20625|20626|20627|20628|288750|288755|288757|288758|288776|288777|289500|289512|289525|289528|289529|289531|289534|289547|289549|289550|289551|289556|289557|289559|289562|289572|292536|292537|292551|292552|292557|292560|292562|292564|292567|292569|292570|292573|292740|292741|292744|292748|292749|359526|364253|887975|887976|887977|887978|887979|887980|887981|887982|887983|887984|887985|887986|887987|887988|887989|887990|887991|887992|887993|887994|887995|887996|887997|887998|887999|888000|888001|891566|891567|891568", + "upstreamId": "20620|20621|20622|20624|20625|20626|20627|20628|288750|288755|288757|288758|288776|288777|289500|289512|289525|289528|289529|289531|289534|289547|289549|289550|289551|289556|289557|289559|289562|289572|292536|292537|292551|292552|292557|292560|292562|292564|292567|292569|292570|292573|292740|292741|292744|292748|292749|359526|364253|887975|887976|887977|887978|887979|887980|887981|887982|887983|887984|887985|887986|887987|887988|887989|887990|887991|887992|887993|887994|887995|887996|887997|887998|887999|888000|888001|891566|891567|891568", "text": "Familial benign pemphigus" }, { - "baseId": "20630|20631|20632|20637|20639|20642|132422|133499|133499|133501|133503|133507|133511|133513|133516|133520|133523|133527|133529|133532|133532|133546|133549|137627|150646|150652|150673|151095|151570|151691|151755|151936|152066|152162|152193|152247|152670|181100|181106|181116|181122|213482|213483|236606|236634|404360|410931|410948|410967|432970|480377", + "upstreamId": "20630|20631|20632|20637|20639|20642|132422|133499|133499|133501|133503|133507|133511|133513|133516|133520|133523|133527|133529|133532|133532|133546|133549|137627|150646|150652|150673|151095|151570|151691|151755|151936|152066|152162|152193|152247|152670|181100|181106|181116|181122|213482|213483|236606|236634|404360|410931|410948|410967|432970|480377", "text": "Li-Fraumeni syndrome 2" }, { - "baseId": "20630|20641", + "upstreamId": "20630|20641", "text": "Cancer of multiple types, susceptibility to" }, { - "baseId": "20630|20640|20641|27286|28045|133499|133528|152066|480186|485382|849160", + "upstreamId": "20630|20640|20641|27286|28045|133499|133528|152066|480186|485382|849160", "text": "Prostate cancer, susceptibility to" }, { - "baseId": "20630|20642|133499|133517|133521|133525|133532|151497|151580|152238|185633|213475", + "upstreamId": "20630|20642|133499|133517|133521|133525|133532|151497|151580|152238|185633|213475", "text": "Breast and colorectal cancer, susceptibility to" }, { - "baseId": "20630", + "upstreamId": "20630", "text": "Gastrointestinal carcinoma" }, { - "baseId": "20630|27405|28691|28692|28939|29011|30972|30973|32619|32621|32623|32626|32627|32628|48304|53980|83949|133277|139098|151476|185394|206650|213392|213402|222738|232035|236461|236477|263939|359197|362753|362774|362826|362895|362896|363112|363121|363269|363273|363313|363360|363438|363439|363440|363441|363442|363461|363462|363463|363503|363504|363505|363506|363507|363508|363529|363530|363534|363535|363545|363546|363547|363548|363569|363570|363571|420661", + "upstreamId": "20630|27405|28691|28692|28939|29011|30972|30973|32619|32621|32623|32626|32627|32628|48304|53980|83949|133277|139098|151476|185394|206650|213392|213402|222738|232035|236461|236477|263939|359197|362753|362774|362826|362895|362896|363112|363121|363269|363273|363313|363360|363438|363439|363440|363441|363442|363461|363462|363463|363503|363504|363505|363506|363507|363508|363529|363530|363534|363535|363545|363546|363547|363548|363569|363570|363571|420661", "text": "Adrenocortical carcinoma" }, { - "baseId": "20630|21681", + "upstreamId": "20630|21681", "text": "Colon cancer, susceptibility to" }, { - "baseId": "20631|20637|20642|132422|133499|133510|133511|133513|133517|133525|133527|133530|133532|133534|133538|137627|140445|140450|150526|151051|151853|151923|152075|152615|152670|181095|185589|185619|185630|222878|236586|236589|236596|236681|337709|337711|351277|352332|404384|539411|891034|891035|891036", + "upstreamId": "20631|20637|20642|132422|133499|133510|133511|133513|133517|133525|133527|133530|133532|133534|133538|137627|140445|140450|150526|151051|151853|151923|152075|152615|152670|181095|185589|185619|185630|222878|236586|236589|236596|236681|337709|337711|351277|352332|404384|539411|891034|891035|891036", "text": "CHEK2-Related Cancer Susceptibility" }, { - "baseId": 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"text": "Li-Fraumeni syndrome" }, { - "baseId": "20633|20634|20637|20639|20642|26767|27398|27419|28126|29022|132342|132422|133499|133501|133503|133507|133511|133513|133516|133520|133523|133529|133532|133549|137627|137844|150646|150652|150673|151095|151570|151691|151755|151936|152066|152193|152247|181100|181106|181116|181122|213483|236606|236634|404360|410931|410948|410967|432384|432970|462915|463279|463892|480377|568568", + "upstreamId": "20633|20634|20637|20639|20642|26767|27398|27419|28126|29022|132342|132422|133499|133501|133503|133507|133511|133513|133516|133520|133523|133529|133532|133549|137627|137844|150646|150652|150673|151095|151570|151691|151755|151936|152066|152193|152247|181100|181106|181116|181122|213483|236606|236634|404360|410931|410948|410967|432384|432970|462915|463279|463892|480377|568568", "text": "Osteosarcoma" }, { - "baseId": "20635|20636|20637|20638|20639|21959|22608|22609|22610|22611|22612|22869|22870|24848|24856|24870|24872|24873|24874|24875|33206", + 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"text": "Malignant tumor of prostate" }, { - "baseId": "20647|20648|188992|188992|205143|238018|359518|389198|413665|431671|551532|622344|790453|790454|790455|790456|790457", + "upstreamId": "20647|20648|188992|188992|205143|238018|359518|389198|413665|431671|551532|622344|790453|790454|790455|790456|790457", "text": "Retinitis pigmentosa 41" }, { - "baseId": 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"20649|101228|101229|101230|101233|106455|177982|188992|188992|190494|191235|238018|251364|251366|251367|251368|251369|271311|273551|273853|292683|292686|292688|292691|292699|292700|292702|292704|292711|294050|294067|294069|294070|294071|294072|294073|294074|294076|294078|294079|294080|294081|294082|297480|297481|297486|297488|297491|297493|297494|297497|297508|297519|297520|297521|297522|297535|297539|297546|297553|297554|297555|297557|297564|297565|297569|297593|297594|297616|297620|297621|367970|413665|431669|624036|672055|709217|720819|764376|795555|828937|828938|890363|890364|890365|890366|890367|890368|890369|890370|890371|890372|890373|890374|890375|890376|890377|890378|890379|890380|890381|890382|890383|890384|890385|890386|890387|891764|891765|891766|891767|891768", "text": "Bull's eye macular dystrophy" }, { - "baseId": 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"20649|101228|101229|101230|101233|106455|177982|188992|188992|190494|191235|238018|247774|247775|251364|251366|251367|251368|251369|271311|273551|273853|292683|292686|292688|292691|292699|292700|292702|292704|292711|294050|294067|294069|294070|294071|294072|294073|294074|294076|294078|294079|294080|294081|294082|297480|297481|297486|297488|297491|297493|297494|297497|297508|297519|297520|297521|297522|297535|297539|297546|297553|297554|297555|297557|297564|297565|297569|297593|297594|297616|297620|297621|359518|367970|413665|431669|551535|612177|624036|672055|709217|720819|764376|790457|795555|828937|828938|890363|890364|890365|890366|890367|890368|890369|890370|890371|890372|890373|890374|890375|890376|890377|890378|890379|890380|890381|890382|890383|890384|890385|890386|890387|891764|891765|891766|891767|891768|918885|918886", "text": "Cone-rod dystrophy 12" }, { - "baseId": "20650|20651|20652|194449|227506|247519|247520|247521|266498|269503|361467|368113|368405|368578|369816|369819|576114|633792|633793|661121|672062|709843|735031|749438|782249|830691|966609", + "upstreamId": "20650|20651|20652|194449|227506|247519|247520|247521|266498|269503|361467|368113|368405|368578|369816|369819|576114|633792|633793|661121|672062|709843|735031|749438|782249|830691|966609", "text": "Ehlers-Danlos syndrome progeroid type" }, { - "baseId": "20652|39530|189008|512850|526327|526510|538425|564770|565897|640199|701843|712963|724533|738076|738079|738080|791146|838638|935636|935637|966612|966613", + "upstreamId": "20652|39530|189008|512850|526327|526510|538425|564770|565897|640199|701843|712963|724533|738076|738079|738080|791146|838638|935636|935637|966612|966613", "text": "Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects" }, { - "baseId": "20652|620945", + "upstreamId": "20652|620945", "text": "Lethal skeletal dysplasia" }, { - "baseId": "20653|512903|538985", + "upstreamId": "20653|512903|538985", "text": "Spinocerebellar ataxia type 12" }, { - "baseId": "20654|20654|20660|34345|34345|71190|71191|71192|71193|71194|71195|71196|71197|71198|71199|81406|106600|135763|177111|178074|189016|189016|195713|199786|236898|301018|301020|301022|301028|301029|301030|301031|301037|303989|303999|304000|304001|304002|308691|308696|308697|308703|308704|308706|308707|308712|308715|308717|308724|308726|308730|308749|308751|308763|308768|308783|308784|357500|357501|357502|357503|357504|357505|357506|357507|357508|357509|357510|357511|357512|357513|357514|357515|424602|433918|433918|521556|543963|543966|543969|543972|544241|544291|544293|544304|544305|544306|544309|544313|544314|544315|544317|544318|544319|544322|544326|549612|549613|563689|635138|651595|710598|710599|722131|735766|735767|744145|750215|765816|765817|777755|782641|795894|819747|819748|832347|832348|832349|858695|896829|896830|896831|896832|896833|896834|896835|896836|896837|896838|896839|896840|896841|896842|896843|896844|933455|940853|940854|940855|945172|945173|954879|961607|978347|978348|978349|978350|978351|978352|978353", + "upstreamId": "20654|20654|20660|34345|34345|71190|71191|71192|71193|71194|71195|71196|71197|71198|71199|81406|106600|135763|177111|178074|189016|189016|195713|199786|236898|301018|301020|301022|301028|301029|301030|301031|301037|303989|303999|304000|304001|304002|308691|308696|308697|308703|308704|308706|308707|308712|308715|308717|308724|308726|308730|308749|308751|308763|308768|308783|308784|357500|357501|357502|357503|357504|357505|357506|357507|357508|357509|357510|357511|357512|357513|357514|357515|424602|433918|433918|521556|543963|543966|543969|543972|544241|544291|544293|544304|544305|544306|544309|544313|544314|544315|544317|544318|544319|544322|544326|549612|549613|563689|635138|651595|710598|710599|722131|735766|735767|744145|750215|765816|765817|777755|782641|795894|819747|819748|832347|832348|832349|858695|896829|896830|896831|896832|896833|896834|896835|896836|896837|896838|896839|896840|896841|896842|896843|896844|933455|940853|940854|940855|945172|945173|954879|961607|978347|978348|978349|978350|978351|978352|978353", "text": "Salla disease" }, { - "baseId": "20654|20654|20655|20656|20657|20658|20659|20660|34345|34345|106600|135763|189016|189016|195713|199786|236898|301018|301020|301022|301028|301029|301030|301031|301037|303989|303999|304001|304002|308691|308696|308703|308704|308706|308707|308712|308715|308717|308724|308726|308730|308749|308751|308763|308768|308783|433918|433918|549612|549613|710598|722131|777755|795894|858695|896829|896830|896831|896832|896833|896834|896835|896836|896837|896838|896839|896840|896841|896842|896843|896844|961607", + "upstreamId": "20654|20654|20655|20656|20657|20658|20659|20660|34345|34345|106600|135763|189016|189016|195713|199786|236898|301018|301020|301022|301028|301029|301030|301031|301037|303989|303999|304001|304002|308691|308696|308703|308704|308706|308707|308712|308715|308717|308724|308726|308730|308749|308751|308763|308768|308783|433918|433918|549612|549613|710598|722131|777755|795894|858695|896829|896830|896831|896832|896833|896834|896835|896836|896837|896838|896839|896840|896841|896842|896843|896844|961607", "text": "Sialic acid storage disease, severe infantile type" }, { - "baseId": "20663|20664|20665|20666|40213|40215|45765|47518|47519|47521|241829|320390|320391|320394|320395|320398|329051|329057|329062|329069|329079|335686|335692|335694|335700|335702|337516|337521|337528|337529|337537|337542|337545|404815|642324|841346|841348|871750|871751|871752|871753|871754|871755|871756|965227|980474", + "upstreamId": "20663|20664|20665|20666|40213|40215|45765|47518|47519|47521|241829|320390|320391|320394|320395|320398|329051|329057|329062|329069|329079|335686|335692|335694|335700|335702|337516|337521|337528|337529|337537|337542|337545|404815|642324|841346|841348|871750|871751|871752|871753|871754|871755|871756|965227|980474", "text": "Dyskeratosis congenita, autosomal dominant, 3" }, { - "baseId": "20663|20665|20666|22358|22359|22360|22361|22362|22364|22365|27774|39221|47518|47519|47520|47521|47522|47523|47524|47525|47526|47527|47529|47530|47531|47706|47709|47711|47712|47713|47714|47716|47717|47718|47724|47725|47732|47885|47886|47888|47891|47892|47894|47898|47899|47901|47902|47903|47905|47906|47907|49399|239114|239115|239116|393355|393357|393580|393582|428162|428163|430376|430379|430380|430383|451923|451925|451930|451935|451942|451943|452134|452391|518964|518966|518969|518976|519133|519135|519140|519142|519143|519147|533714|533717|558834|559369|559371|559373|559375|559377|561247|561257|562555|562558|562559|571397|610682|612141|624259|631030|631031|631032|631033|631034|631035|631036|631037|631038|631039|631040|631041|631042|631043|631044|631045|648808|648822|648841|728803|728806|742535|742543|742545|742547|742548|745443|757675|757680|757681|760966|773207|773248|786442|786452|786461|819350|819351|819352|827662|827663|827664|827665|827666|827667|827668|827669|827670|827671|827672|827673|827674|827675|827676|827677|827678|827679|827680|827681|827682|827683|905005|905006|923087|923088|923089|923090|923091|923092|923093|923094|931821|931822|931823|931824|931825|931826|931827|931828|931829|931830|931831|943399|943400|943401|943402|943403|943404|943405|953382|953383|953384|953385|953386|953387|961227|961228", + "upstreamId": "20663|20665|20666|22358|22359|22360|22361|22362|22364|22365|27774|39221|47518|47519|47520|47521|47522|47523|47524|47525|47526|47527|47529|47530|47531|47706|47709|47711|47712|47713|47714|47716|47717|47718|47724|47725|47732|47885|47886|47888|47891|47892|47894|47898|47899|47901|47902|47903|47905|47906|47907|49399|239114|239115|239116|393355|393357|393580|393582|428162|428163|430376|430379|430380|430383|451923|451925|451930|451935|451942|451943|452134|452391|518964|518966|518969|518976|519133|519135|519140|519142|519143|519147|533714|533717|558834|559369|559371|559373|559375|559377|561247|561257|562555|562558|562559|571397|610682|612141|624259|631030|631031|631032|631033|631034|631035|631036|631037|631038|631039|631040|631041|631042|631043|631044|631045|648808|648822|648841|728803|728806|742535|742543|742545|742547|742548|745443|757675|757680|757681|760966|773207|773248|786442|786452|786461|819350|819351|819352|827662|827663|827664|827665|827666|827667|827668|827669|827670|827671|827672|827673|827674|827675|827676|827677|827678|827679|827680|827681|827682|827683|905005|905006|923087|923088|923089|923090|923091|923092|923093|923094|931821|931822|931823|931824|931825|931826|931827|931828|931829|931830|931831|943399|943400|943401|943402|943403|943404|943405|953382|953383|953384|953385|953386|953387|961227|961228", "text": "Dyskeratosis congenita, autosomal dominant 1" }, { - "baseId": "20664|40214|47518|47519|47521|241829|320390|320391|320394|320395|320398|329051|329057|329062|329067|329069|329079|329081|335686|335687|335692|335694|335700|335702|337516|337517|337521|337528|337529|337537|337542|337545|404815|642324|841346|841348|871750|871751|871752|871753|871754|871755|871756|980474", + "upstreamId": "20664|40214|47518|47519|47521|241829|320390|320391|320394|320395|320398|329051|329057|329062|329067|329069|329079|329081|335686|335687|335692|335694|335700|335702|337516|337517|337521|337528|337529|337537|337542|337545|404815|642324|841346|841348|871750|871751|871752|871753|871754|871755|871756|980474", "text": "Revesz syndrome" }, { - "baseId": 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"text": "Dyskeratosis congenita" }, { - "baseId": "20667|20668|20669|20670|20671|20672|98423|195209|256412|256413|329950|329951|329955|340217|340219|345929|345931|345936|345937|345944|345948|345956|347277|347283|347286|347287|347291|468839|469088|531770|548333|548335|548342|548346|548354|548357|548358|548362|548366|548368|548370|548374|548376|548378|548381|548384|548386|548716|548725|548732|548736|548739|548740|548746|549104|549109|549110|549117|549128|549131|588980|646696|694202|694203|694204|694205|695776|695777|704378|704379|704380|704381|704382|704383|715708|715709|715710|727444|741037|741038|741039|741041|756131|771829|771830|771831|771832|771833|771835|771837|785744|785745|791828|791829|846199|878487|878488|878489|878490|878491|878492|878493|878494|878495|878496|878497|941197|950288|950289|958310|958311|958312|972276|972277|972278|972279|972280|979920|979921|979922", + "upstreamId": 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type" }, { - "baseId": "20674", + "upstreamId": "20674", "text": "Age-related macular degeneration 11" }, { - "baseId": 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"20675|20683|20685|20970|27267|200501|236723|260799|303427|539124|539125|539126|539134|539135|539136|539143|539152|539154|625971", + "upstreamId": "20675|20683|20685|20970|27267|200501|236723|260799|303427|539124|539125|539126|539134|539135|539136|539143|539152|539154|625971", "text": "Nephrocalcinosis" }, { - "baseId": "20676|20684|20685|38436|150264|171741|186650|186661|200432|200435|200495|200503|200506|200515|200558|200572|200634|288981|311821|311826|311840|323489|324115|324127|324128|621110|858754", + "upstreamId": "20676|20684|20685|38436|150264|171741|186650|186661|200432|200435|200495|200503|200506|200515|200558|200572|200634|288981|311821|311826|311840|323489|324115|324127|324128|621110|858754", "text": "Primary hyperoxaluria" }, { - "baseId": "20677|21231|22804|22805|22806|27398|27403|27406|28938|28940|29009|29010|29011|40563|45735|87659|87660|150535|176503|242978|362755|363053|363096|363097|363179|363247|363248|363249|363250|363251|363291|363292|363327|363337|363338|363376|363377|363378|363398|363399|363400|363401|363402|363403|363538|363542|363543|363544|363560|363561|363562|363563|363564|363565|789985|789986|789987", + "upstreamId": "20677|21231|22804|22805|22806|27398|27403|27406|28938|28940|29009|29010|29011|40563|45735|87659|87660|150535|176503|242978|362755|363053|363096|363097|363179|363247|363248|363249|363250|363251|363291|363292|363327|363337|363338|363376|363377|363378|363398|363399|363400|363401|363402|363403|363538|363542|363543|363544|363560|363561|363562|363563|363564|363565|789985|789986|789987", "text": "Non-Hodgkin lymphoma" }, { - "baseId": 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+ "upstreamId": 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"text": "Primary hyperoxaluria, type I" }, { - "baseId": "20690|20691|20692|20693|20694|20695|508763|508764|508765|590697|672209|672210|672211|672212|672213|672214|672215|672216|672217|788732|789891|961824|963118|963119|964139|975891|980900", + "upstreamId": "20690|20691|20692|20693|20694|20695|508763|508764|508765|590697|672209|672210|672211|672212|672213|672214|672215|672216|672217|788732|789891|961824|963118|963119|964139|975891|980900", "text": "Camptodactyly-arthropathy-coxa vara-pericarditis syndrome" }, { - "baseId": 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"text": "Spastic paraplegia 4, autosomal dominant" }, { - "baseId": "20710|20711", + "upstreamId": "20710|20711", "text": "Spastic paraplegia 4, modifier of" }, { - "baseId": "20717|20718|20719|20720|20721|20722|20723|20724|65567|141579|142784|142785|142786|142787|142788|142789|142790|142791|211962|211965|338573|338576|338577|348160|348162|348165|351824|351825|351827|352678|352679|377583|689294|786642|788946|891500|891501|891502|919959", + "upstreamId": "20717|20718|20719|20720|20721|20722|20723|20724|65567|141579|142784|142785|142786|142787|142788|142789|142790|142791|211962|211965|338573|338576|338577|348160|348162|348165|351824|351825|351827|352678|352679|377583|689294|786642|788946|891500|891501|891502|919959", "text": "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency" }, { - "baseId": "20717|20720|65567|211965", + "upstreamId": "20717|20720|65567|211965", "text": "Myopia 6" }, { - "baseId": "20720|153385|177103|181399|203840|203843|225802|225802|225802|225802|225802|263309|263410|268631|360940|513921|513949|513961|513984|513986|514013|514110|514321|514323|514331|514332|514333|514334|514335|626420|921239|921240|921241|921242|966614|971562", + "upstreamId": "20720|153385|177103|181399|203840|203843|225802|225802|225802|225802|225802|263309|263410|268631|360940|513921|513949|513961|513984|513986|514013|514110|514321|514323|514331|514332|514333|514334|514335|626420|921239|921240|921241|921242|966614|971562", "text": "Severe global developmental delay" }, { - "baseId": 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+ "upstreamId": "20725|20726|20727|20728|20729|20730|20731|20732|39367|187689|191369|191369|191537|194164|194191|196235|196235|207865|207865|265791|266013|266013|267194|267194|270150|270796|270796|270975|270975|270976|272453|272453|272457|272457|274999|274999|314192|314197|314198|314211|314214|314215|314218|314221|314221|314230|314230|314232|314232|314233|314235|314236|314240|314240|314245|314249|314249|314250|320769|320771|320774|320775|320780|320780|320781|320783|320783|320786|320787|320788|320790|320790|320796|320798|320818|320820|320821|320821|320834|320837|320837|320850|320852|320852|320855|320855|320863|320864|320871|320873|326814|326817|326820|326822|326824|326840|326842|326843|326846|326846|326853|326853|326855|326855|326858|326859|326859|326861|326866|326867|326872|326874|326875|326875|326887|326887|326891|326891|327779|327782|327784|327787|327788|327795|327795|327798|327798|327799|327800|327800|327811|327817|327817|327818|327830|327830|327831|327840|327844|327845|327847|327858|327858|327859|327869|327869|327870|327882|327885|360043|360043|371427|420287|429241|444807|444807|461121|461131|461137|461332|461332|461333|461623|461623|461624|461625|461626|461627|461630|461932|461939|461943|461953|488690|488691|488694|526218|526218|526223|526224|526224|526226|526227|526228|526409|526415|526429|526434|526706|526708|526713|526713|526715|526719|564646|564647|564651|564654|564655|564662|564669|564671|564671|565803|565805|567275|567276|567280|567282|570669|570670|570671|570673|626206|640069|640070|640071|640072|640073|640074|640075|640076|640077|640078|640079|640080|640081|640082|640083|640084|640085|640086|640087|640088|640089|640089|640090|652547|693032|693033|693033|693034|693037|693037|693039|693039|693040|693042|693042|693043|693044|693045|695516|695518|701776|701776|701777|701778|701778|701780|712847|712848|712849|712849|724460|724462|724464|752689|768468|784012|796596|796596|838472|838473|838474|838475|838476|838477|838478|838479|838480|838481|838482|838483|838484|838485|838486|852613|868036|868037|868038|868039|868040|868041|868042|868043|868044|868045|868046|868047|868048|868049|868050|868051|868052|868053|868054|868055|868056|868057|868058|868059|868060|868061|868062|868063|868064|868065|868066|868067|868068|868069|868070|868071|868072|868073|868074|868075|868076|868077|868078|868079|868080|868653|868654|926251|926252|926253|926254|926255|935567|935568|935569|935570|935571|935572|935573|935574|935575|935576|940214|940998|947480|947481|947482|947483|956513|956514|956515|959990|970936", "text": "Cenani-Lenz syndactyly syndrome" }, { - "baseId": "20733|20734|20736|20737|196286|196287|266578|272001|273741|466808|467667|468076|485862|490861|508752|513224|531010|531132|531154|531502|531503|531505|531509|531510|531512|571113|571114|571115|571342|574455|574456|624628|645875|645876|645877|645878|645879|645880|645881|645882|645883|645884|645885|645886|652955|715456|727177|727178|727179|740747|740748|744956|755838|755839|755842|771491|771492|771494|785559|785560|785562|816341|845324|845325|845326|845327|845328|845329|845330|845331|845332|928258|928259|928260|937925|937926|937927|937928|949915|949916|949917|958105|961974|964479|980482", + "upstreamId": "20733|20734|20736|20737|196286|196287|266578|272001|273741|466808|467667|468076|485862|490861|508752|513224|531010|531132|531154|531502|531503|531505|531509|531510|531512|571113|571114|571115|571342|574455|574456|624628|645875|645876|645877|645878|645879|645880|645881|645882|645883|645884|645885|645886|652955|715456|727177|727178|727179|740747|740748|744956|755838|755839|755842|771491|771492|771494|785559|785560|785562|816341|845324|845325|845326|845327|845328|845329|845330|845331|845332|928258|928259|928260|937925|937926|937927|937928|949915|949916|949917|958105|961974|964479|980482", "text": "Growth hormone insensitivity with immune dysregulation 1, autosomal recessive" }, { - "baseId": "20742|20743", + "upstreamId": "20742|20743", "text": "Focal segmental glomerulosclerosis 3" }, { - "baseId": "20745|20746|20747|20748|20750|20751|20752|33860|34280|34282|34283|34284|34285|34286|34288|34289|213653|226392|226393|227930|227931|227932|227933|410555|805031|917757|917758", + "upstreamId": "20745|20746|20747|20748|20750|20751|20752|33860|34280|34282|34283|34284|34285|34286|34288|34289|213653|226392|226393|227930|227931|227932|227933|410555|805031|917757|917758", "text": "Cold-induced sweating syndrome 1" }, { - "baseId": "20753|20754|20755|20756|204422", + "upstreamId": "20753|20754|20755|20756|204422", "text": "PULMONARY ALVEOLAR MICROLITHIASIS" }, { - "baseId": "20757|20758|20759|20760|20762|20763|20764|20765|20767", + "upstreamId": "20757|20758|20759|20760|20762|20763|20764|20765|20767", "text": "Cerebral cavernous malformations 1" }, { - "baseId": "20760|20767|252960|252961|252964|252965|252966|259875|259877|259880|264247|270303|290221|293317|303552|303557|303560|303561|303562|303566|303568|303570|306979|306988|306989|306996|306998|307003|307005|307010|307011|307013|307014|311871|311876|311877|311882|311883|311886|311887|311888|311891|311895|311896|311899|311904|311907|311910|311912|311913|311914|311917|311920|311926|311929|311930|311931|311942|311946|311949|311950|311954|311955|353642|359673|361189|418980|418981|418984|418989|418992|433658|441149|444174|456163|456165|456854|456856|457060|457061|457065|457570|457571|457572|457573|457577|457668|457669|457673|457675|458018|458021|458024|458026|458036|458038|481793|495222|512828|512829|513975|522652|523471|523473|553155|561160|561802|562247|562258|564478|564482|567215|567217|581340|581356|581369|581376|581382|581391|581396|581401|581408|636173|636437|636438|636439|636440|636441|636442|651698|678067|692328|692330|695372|711180|722719|744375|750827|766441|788820|819922|833915|833916|833917|833918|833919|833920|833921|833922|833923|833924|851163|851662|852382|898468|898469|898470|898471|898472|898473|898474|898475|898476|898477|898478|898479|898480|898481|898482|898483|898484|898485|898486|898487|898488|898489|898490|898491|898492|898493|898494|898495|898496|900410|900411|900412|919120|919121|919122|924932|934022|934023|934024|934025|945784|945785|955239|955240|955241|959869|960640|964294", + "upstreamId": "20760|20767|252960|252961|252964|252965|252966|259875|259877|259880|264247|270303|290221|293317|303552|303557|303560|303561|303562|303566|303568|303570|306979|306988|306989|306996|306998|307003|307005|307010|307011|307013|307014|311871|311876|311877|311882|311883|311886|311887|311888|311891|311895|311896|311899|311904|311907|311910|311912|311913|311914|311917|311920|311926|311929|311930|311931|311942|311946|311949|311950|311954|311955|353642|359673|361189|418980|418981|418984|418989|418992|433658|441149|444174|456163|456165|456854|456856|457060|457061|457065|457570|457571|457572|457573|457577|457668|457669|457673|457675|458018|458021|458024|458026|458036|458038|481793|495222|512828|512829|513975|522652|523471|523473|553155|561160|561802|562247|562258|564478|564482|567215|567217|581340|581356|581369|581376|581382|581391|581396|581401|581408|636173|636437|636438|636439|636440|636441|636442|651698|678067|692328|692330|695372|711180|722719|744375|750827|766441|788820|819922|833915|833916|833917|833918|833919|833920|833921|833922|833923|833924|851163|851662|852382|898468|898469|898470|898471|898472|898473|898474|898475|898476|898477|898478|898479|898480|898481|898482|898483|898484|898485|898486|898487|898488|898489|898490|898491|898492|898493|898494|898495|898496|900410|900411|900412|919120|919121|919122|924932|934022|934023|934024|934025|945784|945785|955239|955240|955241|959869|960640|964294", "text": "Cerebral cavernous malformation" }, { - "baseId": "20761", + "upstreamId": "20761", "text": "Hyperkeratotic cutaneous capillary-venous malformations associated with cerebral capillary malformations" }, { - "baseId": "20766", + "upstreamId": "20766", "text": "Cavernous malformations of CNS and retina" }, { - "baseId": 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+ "upstreamId": 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"text": "Retinitis pigmentosa 12" }, { - "baseId": "20769|48213|102552|270116|431560|619982|619983", + "upstreamId": "20769|48213|102552|270116|431560|619982|619983", "text": "CRB1-Related Disorders" }, { - "baseId": 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+ "upstreamId": 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"text": "Leber congenital amaurosis 8" }, { - "baseId": "20772|20777|48213|48213|102553|105758|105761|105762|105767|105776|105795|105803|106486|177649|192603|227208|249592|274234|278311|278313|278320|278321|278335|278346|278348|278353|278354|278358|279441|279448|279452|279453|279462|279468|279470|279527|279528|279529|279530|279532|279539|279540|279542|279543|279544|279547|279548|279564|279565|279572|361578|498168|696361|706969|706971|777027|850955|855891|863217|863218|863219|863220|863221|863222|863223|863224|863225|863226|863227|863228|863229|863230|863231|863232|863233|863234|863235|863236|918584|918585|918586|918587|918588", + "upstreamId": "20772|20777|48213|48213|102553|105758|105761|105762|105767|105776|105795|105803|106486|177649|192603|227208|249592|274234|278311|278313|278320|278321|278335|278346|278348|278353|278354|278358|279441|279448|279452|279453|279462|279468|279470|279527|279528|279529|279530|279532|279539|279540|279542|279543|279544|279547|279548|279564|279565|279572|361578|498168|696361|706969|706971|777027|850955|855891|863217|863218|863219|863220|863221|863222|863223|863224|863225|863226|863227|863228|863229|863230|863231|863232|863233|863234|863235|863236|918584|918585|918586|918587|918588", "text": "Pigmented paravenous chorioretinal atrophy" }, { - "baseId": "20778|76480|622989|622990|962958", + "upstreamId": "20778|76480|622989|622990|962958", "text": "Early-onset retinal dystrophy" }, { - "baseId": "20780|59436|226728|236972|237070|264778|337543|337551|337552|337555|337559|337560|337568|337570|337575|337586|337588|337590|337594|337596|337597|337599|337600|337602|337605|347118|347123|347125|347128|347129|347133|347139|347144|347145|347152|347153|347156|347161|347162|347165|347166|347172|347176|347177|347180|347184|347188|351151|351156|351157|351161|351162|351163|351164|351169|351170|351173|351174|351177|351179|351181|351182|351183|351184|351187|351188|351191|351192|351193|352155|352156|352157|352170|352173|352174|352175|352176|352189|352190|352191|352193|352195|352197|352208|352210|352211|352212|352213|352214|352215|486775|742770|890881|890882|890883|890884|890885|890886|890887|890888|890889|890890|890891|890892|890893|890894|890895|890896|890897|890898|890899|890900|890901|890902|890903|890904|890905|890906|890907|890908|890909|890910|890911|890912|890913|890914|890915|890916|890917|890918|890919|890920|890921|890922|890923|890924|890925|890926|890927|890928|890929|890930|891806|891807|891808|891809|891810", + "upstreamId": "20780|59436|226728|236972|237070|264778|337543|337551|337552|337555|337559|337560|337568|337570|337575|337586|337588|337590|337594|337596|337597|337599|337600|337602|337605|347118|347123|347125|347128|347129|347133|347139|347144|347145|347152|347153|347156|347161|347162|347165|347166|347172|347176|347177|347180|347184|347188|351151|351156|351157|351161|351162|351163|351164|351169|351170|351173|351174|351177|351179|351181|351182|351183|351184|351187|351188|351191|351192|351193|352155|352156|352157|352170|352173|352174|352175|352176|352189|352190|352191|352193|352195|352197|352208|352210|352211|352212|352213|352214|352215|486775|742770|890881|890882|890883|890884|890885|890886|890887|890888|890889|890890|890891|890892|890893|890894|890895|890896|890897|890898|890899|890900|890901|890902|890903|890904|890905|890906|890907|890908|890909|890910|890911|890912|890913|890914|890915|890916|890917|890918|890919|890920|890921|890922|890923|890924|890925|890926|890927|890928|890929|890930|891806|891807|891808|891809|891810", "text": "CEDNIK syndrome" }, { - "baseId": "20781|20782|20783|20784|20785|20786|20787|672074|790843|790844|966796", + "upstreamId": "20781|20782|20783|20784|20785|20786|20787|672074|790843|790844|966796", "text": "Ichthyosis prematurity syndrome" }, { - "baseId": "20789", + "upstreamId": "20789", "text": "SLC22A4 POLYMORPHISM" }, { - "baseId": "20790|20791|20792|20793|106512|106513|279937|280263|280267|281549|281569|281575|281577|281731|281732|513403|685091|864085|865153|980903", + "upstreamId": "20790|20791|20792|20793|106512|106513|279937|280263|280267|281549|281569|281575|281577|281731|281732|513403|685091|864085|865153|980903", "text": "Diamond-Blackfan anemia 7" }, { - "baseId": 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+ "upstreamId": "20790|20793|21218|21353|21354|22285|38387|138201|142629|238349|238350|238351|238352|238353|239901|239902|240848|243028|243344|243345|257848|259941|265986|279937|281549|281569|281575|283380|286176|289621|299917|302550|302559|302560|302561|306938|306941|306942|311239|311253|316666|322671|322683|322688|323397|323402|333684|333685|333686|349024|349036|353154|353494|353570|353770|364821|391375|391418|391435|391438|395711|397422|401529|403743|404264|404581|429129|429130|430809|447927|448377|448444|455562|455708|467380|467887|468836|468838|470262|471606|471610|472161|514914|515586|515657|515668|515705|516100|533129|535006|535011|535177|535178|540580|540581|556497|557170|557382|557384|557386|557429|558042|569420|573141|573452|574743|575425|575426|627541|628280|628281|628282|628283|628284|628285|634868|634869|639180|639181|647075|648142|648143|650088|650089|650090|650544|650701|653053|653530|653617|684197|685017|685018|685019|685091|685460|685490|685644|688879|689519|689521|689522|689823|694432|695909|706246|818936|819687|820242|821508|823641|823642|824435|824436|824437|831868|847728|847729|850105|850106|850107|850108|850762|851324|852873|922170|924343|928658|928980|929753|929754|929755|929756|930385|930386|930669|930670|938702|938703|938704|941820|942108|942109|950806|950807|952530|954430|959312|960386|969273|969274|974532", "text": "Diamond-Blackfan anemia" }, { - "baseId": "20794|20795|20796|20797|20798|166239", + "upstreamId": "20794|20795|20796|20797|20798|166239", "text": "Hypogonadotropic hypogonadism 8 without anosmia" }, { - "baseId": "20798|20799|788933", + "upstreamId": "20798|20799|788933", "text": "Precocious puberty, central, 1" }, { - "baseId": "20800|20801|20802|20803|20804|20805|20806|40212|46931|46932|313558|313576|313577|313583|313584|313588|313597|313615|313617|319779|319789|319798|325939|325940|325946|325957|325977|325983|326890|326893|326919|326932|326944|526015|526096|526168|564538|565583|565587|570423|620831|639857|639858|652168|652521|791122|850651|850652|850654|850655|868687|929864|939732|939733|951945|951946", + "upstreamId": "20800|20801|20802|20803|20804|20805|20806|40212|46931|46932|313558|313576|313577|313583|313584|313588|313597|313615|313617|319779|319789|319798|325939|325940|325946|325957|325977|325983|326890|326893|326919|326932|326944|526015|526096|526168|564538|565583|565587|570423|620831|639857|639858|652168|652521|791122|850651|850652|850654|850655|868687|929864|939732|939733|951945|951946", "text": "Hyperekplexia 3" }, { - "baseId": "20807|20808|20809|20810|20811|20812|20813|20814|20815|20816|20817|20818|31810|100283|100284|194386|195323|252985|252986|252987|265352|270083|271457|303658|303661|303663|307107|307108|307109|312035|312036|312037|312040|312045|312048|312055|312056|361528|384418|407282|407283|441161|441163|441164|456169|457102|457105|457115|457117|457677|457684|457686|457737|458100|458105|458108|458112|480429|481462|522658|522936|522950|523154|523160|523162|523385|523389|523400|523403|523408|523499|523500|523501|523505|523506|523510|523512|561162|561839|561842|561845|562310|562311|564526|564528|564539|567270|567277|567285|567287|567288|612148|612792|636473|636474|636475|636476|636477|636478|636479|636480|636481|636482|636483|636484|636485|636486|636487|636488|636489|636490|636491|651737|683948|683949|687139|687141|692333|692334|692335|759668|766486|787530|790764|796098|798593|798594|798595|801548|833981|833982|833983|833984|833985|833986|833987|833988|833989|833990|833991|833992|833993|833994|833995|833996|833997|851664|898556|919128|924952|924953|924954|924955|924956|924957|924958|924959|924960|924961|934045|934046|934047|940090|945803|945804|945805|955262|955263|955264|964914", + "upstreamId": "20807|20808|20809|20810|20811|20812|20813|20814|20815|20816|20817|20818|31810|100283|100284|194386|195323|252985|252986|252987|265352|270083|271457|303658|303661|303663|307107|307108|307109|312035|312036|312037|312040|312045|312048|312055|312056|361528|384418|407282|407283|441161|441163|441164|456169|457102|457105|457115|457117|457677|457684|457686|457737|458100|458105|458108|458112|480429|481462|522658|522936|522950|523154|523160|523162|523385|523389|523400|523403|523408|523499|523500|523501|523505|523506|523510|523512|561162|561839|561842|561845|562310|562311|564526|564528|564539|567270|567277|567285|567287|567288|612148|612792|636473|636474|636475|636476|636477|636478|636479|636480|636481|636482|636483|636484|636485|636486|636487|636488|636489|636490|636491|651737|683948|683949|687139|687141|692333|692334|692335|759668|766486|787530|790764|796098|798593|798594|798595|801548|833981|833982|833983|833984|833985|833986|833987|833988|833989|833990|833991|833992|833993|833994|833995|833996|833997|851664|898556|919128|924952|924953|924954|924955|924956|924957|924958|924959|924960|924961|934045|934046|934047|940090|945803|945804|945805|955262|955263|955264|964914", "text": "Myoclonic dystonia" }, { - "baseId": "20819|20820|20821|20822|20823|20824|20825|20826|20827|20828|20829|20830|20831|20832|33154|33155|33156|33157|33158|33159|33160|33161|45755|69569|171225|205188|209345|227246|227403|244022|268512|269547|272434|286469|286471|286473|286482|286483|286486|286487|287133|287135|287139|287161|287162|287165|287166|287167|287168|287176|287178|289505|289508|289513|289516|289518|289519|289520|289926|289928|289929|289935|289939|289940|289946|289949|289950|289951|289953|333045|333055|333057|333070|333073|333077|333082|333085|333089|343164|343169|343170|343175|343176|343180|343185|343190|343191|343193|348548|348551|348552|348553|348555|348557|348558|349632|349633|349634|349636|349637|349638|349639|349641|349642|349643|362173|389208|424992|493438|516320|518239|539087|539126|550747|553488|560637|619928|620632|630008|630009|650756|708286|708287|708288|708289|708290|716354|719882|719883|733483|733484|733485|733486|733487|741765|747648|747649|759122|792540|792548|818336|819169|819170|826488|826489|880254|880255|880256|880257|880258|880259|880260|880261|880262|880263|880264|880265|880266|880267|880268|880269|880270|885004|885005|885006|885007|885008|885009|885010|885011|885012|885013|885014|885015|885016|885017|885018|885019|885020|885021|885022|885023|885024|885025|885026|885027|885028|885029|885030|885031|885032|887371|887372|887373|887374|904185|919847|922775|922776|931409|940479|942924|942925|942926|962800|966574|966575|970741|980389", + "upstreamId": "20819|20820|20821|20822|20823|20824|20825|20826|20827|20828|20829|20830|20831|20832|33154|33155|33156|33157|33158|33159|33160|33161|45755|69569|171225|205188|209345|227246|227403|244022|268512|269547|272434|286469|286471|286473|286482|286483|286486|286487|287133|287135|287139|287161|287162|287165|287166|287167|287168|287176|287178|289505|289508|289513|289516|289518|289519|289520|289926|289928|289929|289935|289939|289940|289946|289949|289950|289951|289953|333045|333055|333057|333070|333073|333077|333082|333085|333089|343164|343169|343170|343175|343176|343180|343185|343190|343191|343193|348548|348551|348552|348553|348555|348557|348558|349632|349633|349634|349636|349637|349638|349639|349641|349642|349643|362173|389208|424992|493438|516320|518239|539087|539126|550747|553488|560637|619928|620632|630008|630009|650756|708286|708287|708288|708289|708290|716354|719882|719883|733483|733484|733485|733486|733487|741765|747648|747649|759122|792540|792548|818336|819169|819170|826488|826489|880254|880255|880256|880257|880258|880259|880260|880261|880262|880263|880264|880265|880266|880267|880268|880269|880270|885004|885005|885006|885007|885008|885009|885010|885011|885012|885013|885014|885015|885016|885017|885018|885019|885020|885021|885022|885023|885024|885025|885026|885027|885028|885029|885030|885031|885032|887371|887372|887373|887374|904185|919847|922775|922776|931409|940479|942924|942925|942926|962800|966574|966575|970741|980389", "text": "Cystinuria" }, { - "baseId": "20837|20838|20839|20840|20841|20842|20843|20844|20845|20846|20847|20848|20849|20850|20851|20852|20853|20854|20856|20857|20858|20859|20860|79700|79703|79706|79711|79714|227331|253373|253376|253377|253379|253380|253381|253382|253383|253384|253385|253386|253388|253389|253390|253391|253392|253395|253396|253397|253399|253400|253402|307292|307293|307294|307299|307301|307304|307308|307309|307311|311534|311540|311542|311544|311565|311566|311601|311604|311606|311608|311615|317068|317069|317083|317091|317093|317096|317098|317099|317100|317103|317529|317532|317533|317535|317537|317539|317546|317554|389201|432301|432349|444392|489471|550300|620323|620324|620810|654534|700873|723417|736981|736983|736984|790858|901331|901332|901333|901334|901335|901336|901337|901338|901339|901340|901341|901342|901343|901344|901345|901347|901348|901349|901350|901351|901353|901354|901355|901356|901357|901358|901359|901361|901362|901363|901364|901365|901366|901367|901368|901369|901370|901371|901372|901373|901374|901375|901376|901377|901378|901379|903335|903336|903337|903338|903339", + "upstreamId": "20837|20838|20839|20840|20841|20842|20843|20844|20845|20846|20847|20848|20849|20850|20851|20852|20853|20854|20856|20857|20858|20859|20860|79700|79703|79706|79711|79714|227331|253373|253376|253377|253379|253380|253381|253382|253383|253384|253385|253386|253388|253389|253390|253391|253392|253395|253396|253397|253399|253400|253402|307292|307293|307294|307299|307301|307304|307308|307309|307311|311534|311540|311542|311544|311565|311566|311601|311604|311606|311608|311615|317068|317069|317083|317091|317093|317096|317098|317099|317100|317103|317529|317532|317533|317535|317537|317539|317546|317554|389201|432301|432349|444392|489471|550300|620323|620324|620810|654534|700873|723417|736981|736983|736984|790858|901331|901332|901333|901334|901335|901336|901337|901338|901339|901340|901341|901342|901343|901344|901345|901347|901348|901349|901350|901351|901353|901354|901355|901356|901357|901358|901359|901361|901362|901363|901364|901365|901366|901367|901368|901369|901370|901371|901372|901373|901374|901375|901376|901377|901378|901379|903335|903336|903337|903338|903339", "text": "Upshaw-Schulman syndrome" }, { - "baseId": "20861|20862|273931", + "upstreamId": "20861|20862|273931", "text": "Pelviscapular dysplasia" }, { - "baseId": "20863|22491|22492|22493|23266|23267|23575|23577|23578|27410|27621|27622|36173|36186|39106|150842|151001|151068|151879|151912|151967|181036|181065|181068|181081|185427|185438|222800|292721|292762|292764|292770|292771|294114|294120|297568|297580|297641|297667|403225|410379|468948|468989|618896|919817|920397", + "upstreamId": "20863|22491|22492|22493|23266|23267|23575|23577|23578|27410|27621|27622|36173|36186|39106|150842|151001|151068|151879|151912|151967|181036|181065|181068|181081|185427|185438|222800|292721|292762|292764|292770|292771|294114|294120|297568|297580|297641|297667|403225|410379|468948|468989|618896|919817|920397", "text": "Carcinoma of pancreas" }, { - "baseId": "20865|20866|20867|20868|20869|20870|20871|20872|141196|141197|141198|141199|169273|169274|169275|169276|169277|169278|169279|169280|169281|169282|169283|169284|169285|169286|169287|169288|169289|169290|169292|169293|169294|169294|169295|169296|169297|169298|169300|169301|169302|169303|187126|191554|208292|208293|255846|255849|255850|260119|271363|271431|271506|360182|413442|422101|429817|429818|441917|489311|506394|513635|536910|577559|577560|577560|587647|608863|620935|714996|740281|740282|755282|755284|755285|755287|770983|770986|770987|770989|776186|785329|785330|785334|785338|785339|875607|875608|875609|875610|875611|875612|875613|875614|875615|875616|875617|875618|875619|875620|875621|875622|875623|875624|875625|875626|875627|875628|875629|875630|875631|875632|875633|875634|875635|875636|875637|875638|875639|875640|875641|875642|875643|875644|875645|875646|875647|875648|875649|875650|875651|875652|875653|875654|875655|875656|875657|875658|875659|875660|875661|875662|875663|875664|875665|875666|875667|875668|875669|875670|875671|875672|875673|875674|875675|875676|875677|875678|875679|876690|876691|965998|972795|976666|979808|979809", + "upstreamId": "20865|20866|20867|20868|20869|20870|20871|20872|141196|141197|141198|141199|169273|169274|169275|169276|169277|169278|169279|169280|169281|169282|169283|169284|169285|169286|169287|169288|169289|169290|169292|169293|169294|169294|169295|169296|169297|169298|169300|169301|169302|169303|187126|191554|208292|208293|255846|255849|255850|260119|271363|271431|271506|360182|413442|422101|429817|429818|441917|489311|506394|513635|536910|577559|577560|577560|587647|608863|620935|714996|740281|740282|755282|755284|755285|755287|770983|770986|770987|770989|776186|785329|785330|785334|785338|785339|875607|875608|875609|875610|875611|875612|875613|875614|875615|875616|875617|875618|875619|875620|875621|875622|875623|875624|875625|875626|875627|875628|875629|875630|875631|875632|875633|875634|875635|875636|875637|875638|875639|875640|875641|875642|875643|875644|875645|875646|875647|875648|875649|875650|875651|875652|875653|875654|875655|875656|875657|875658|875659|875660|875661|875662|875663|875664|875665|875666|875667|875668|875669|875670|875671|875672|875673|875674|875675|875676|875677|875678|875679|876690|876691|965998|972795|976666|979808|979809", "text": "Polymicrogyria, bilateral frontoparietal" }, { - "baseId": "20873|20874|20875|20876|20877|39364|101336|101337|101338|101339|101340|135129|135130|177357|177851|195708|195709|251716|251717|251720|265307|265425|266359|267501|270431|270834|272640|273196|273196|274719|295480|295481|295486|295488|295488|297264|297267|297276|301110|301111|301113|301114|301267|425620|454519|454535|455066|455067|455068|455070|455374|455378|455385|491123|520740|520744|520993|521137|521138|521191|560147|562804|562806|564740|564746|587282|589437|589543|633219|633220|633221|633222|633223|633224|633225|633226|633227|779071|787461|830206|830207|830208|830209|830210|830211|830212|851911|893018|893020|893021|893023|893024|893025|893026|893027|896036|923838|923839|932686|944368|944369|944370|944371|954014", + "upstreamId": "20873|20874|20875|20876|20877|39364|101336|101337|101338|101339|101340|135129|135130|177357|177851|195708|195709|251716|251717|251720|265307|265425|266359|267501|270431|270834|272640|273196|273196|274719|295480|295481|295486|295488|295488|297264|297267|297276|301110|301111|301113|301114|301267|425620|454519|454535|455066|455067|455068|455070|455374|455378|455385|491123|520740|520744|520993|521137|521138|521191|560147|562804|562806|564740|564746|587282|589437|589543|633219|633220|633221|633222|633223|633224|633225|633226|633227|779071|787461|830206|830207|830208|830209|830210|830211|830212|851911|893018|893020|893021|893023|893024|893025|893026|893027|896036|923838|923839|932686|944368|944369|944370|944371|954014", "text": "Myofibrillar myopathy 3" }, { - "baseId": "20874|136760|361048", + "upstreamId": "20874|136760|361048", "text": "Progressive distal muscle weakness" }, { - "baseId": "20874|206864|360820|514132", + "upstreamId": "20874|206864|360820|514132", "text": "Progressive proximal muscle weakness" }, { - "baseId": "20878|101337|101338|101339|101340|135129|135130|177852|195708|195709|265307|273196|273196|295480|295481|295485|295486|295488|295488|297261|297264|297267|297276|301110|301111|301112|301113|301114|301267|301277|511554|589437|893018|893019|893020|893021|893022|893023|893024|893025|893026|893027|896036", + "upstreamId": "20878|101337|101338|101339|101340|135129|135130|177852|195708|195709|265307|273196|273196|295480|295481|295485|295486|295488|295488|297261|297264|297267|297276|301110|301111|301112|301113|301114|301267|301277|511554|589437|893018|893019|893020|893021|893022|893023|893024|893025|893026|893027|896036", "text": "Spheroid body myopathy" }, { - "baseId": "20879|20880|20881|20882|20883|20884|20885|20886|99346|195268|227285|512904", + "upstreamId": "20879|20880|20881|20882|20883|20884|20885|20886|99346|195268|227285|512904", "text": "Congenital stationary night blindness, type 1B" }, { - "baseId": "20888|20891|20892|20896", + "upstreamId": "20888|20891|20892|20896", "text": "Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant" }, { - "baseId": 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+ "upstreamId": 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937112|937113|940333|941097|941098|949047|949048|949049|949050|949051|949052|949053|949054|949055|949056|957529|957530|957531|957532|957533|957534|957535|957536|957537|960124|971028|971029", "text": "Progressive sclerosing poliodystrophy" }, { - "baseId": "20888|28535|28535|28541|28541|28542|28542|28544|28544|28545|28546|28552|28552|28554|28555|76573|142453|142463|190806|193515|202922|202938|202949|202990|203013|203013|203024|203030|203034|203050|203057|242144|264890|513353|539063|553152|576169|614404|801729", + "upstreamId": "20888|28535|28535|28541|28541|28542|28542|28544|28544|28545|28546|28552|28552|28554|28555|76573|142453|142463|190806|193515|202922|202938|202949|202990|203013|203013|203024|203030|203034|203050|203057|242144|264890|513353|539063|553152|576169|614404|801729", "text": "Mitochondrial DNA depletion syndrome 4B, MNGIE type" }, { - "baseId": "20891|20897|214080|250081|250084|448754|918179|918180", + "upstreamId": "20891|20897|214080|250081|250084|448754|918179|918180", "text": "Non-syndromic oligodontia" }, { - "baseId": "20897", + "upstreamId": "20897", "text": "Hair morphology 1, hair thickness" }, { - "baseId": "20897|165611|165614|165619|172936|250083|250084|281511|281513|281518|281520|281521|281522|281529|281533|281537|281539|282145|282146|282147|282150|282152|282182|282184|282199|282214|282216|282223|283512|283515|283516|283517|283525|283530|283531|283532|283546|283549|283550|283551|283629|283642|283646|283656|283657|283659|283660|283667|283675|353535|690703|880825", + "upstreamId": "20897|165611|165614|165619|172936|250083|250084|281511|281513|281518|281520|281521|281522|281529|281533|281537|281539|282145|282146|282147|282150|282152|282182|282184|282199|282214|282216|282223|283512|283515|283516|283517|283525|283530|283531|283532|283546|283549|283550|283551|283629|283642|283646|283656|283657|283659|283660|283667|283675|353535|690703|880825", "text": "Hypohidrotic Ectodermal Dysplasia, Dominant" }, { - "baseId": "20900|24081", + "upstreamId": "20900|24081", "text": "Hypercholesterolemia, susceptibility to" }, { - "baseId": "20902|20903|20904|20905|330271|330273|330277|330279|330287|330290|330297|330300|330301|330303|330306|330309|330311|330312|330319|330323|340477|340479|340485|340486|340489|340499|340509|340515|340518|340520|340522|340524|340528|340530|340531|340535|340537|340544|340545|340549|346200|346201|346203|346207|346209|346216|346218|346219|346220|346221|346230|346231|346232|346241|346242|346243|346245|346246|346255|346259|347507|347510|347513|347514|347521|347526|347529|347534|347537|347542|347546|347547|347550|347553|347556|347558|347564|347567|347573|347574|347575|347579|347580|347583|347586|508889|508890|508891|727464|727465|741064|756168|756169|878660|878661|878662|878663|878664|878665|878666|878667|878668|878669|878670|878671|878672|878673|878674|878675|878676|878677|878678|878679|878680|878681|878682|878683|878684|878685|878686|878687|878688|880610", + "upstreamId": 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"20906|20907|20908|20909|20910|101080|101081|329991|330034|330041|340261|340263|340264|346015|346017|347316|347318|347321|347326|347327|378783|486816|486817|532174|571600|620891|672105|694207|694208|704385|846242|846243|878516|878517|878522|878523|878524|878525|878526|878527|878528|878529|919772|958325|983743", + "upstreamId": "20906|20907|20908|20909|20910|101080|101081|329991|330034|330041|340261|340263|340264|346015|346017|347316|347318|347321|347326|347327|378783|486816|486817|532174|571600|620891|672105|694207|694208|704385|846242|846243|878516|878517|878522|878523|878524|878525|878526|878527|878528|878529|919772|958325|983743", "text": "MPDU1-CDG" }, { - "baseId": 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"text": "Oligodontia-colorectal cancer syndrome" }, { - "baseId": "20922|140034|140035|140036|140038|140043|140044|140045|140046|140047|140048|140049|140050|140052|140053|178586|178587|178589|188434|188435|188458|188459|188463|189264|189285|189287|189291|189300|194666|212621|212622|221747|240192|258510|311851|396100|404774|457532|457989|481131|512827|625804|636409|799517|799518|799519|799520|919118|919119", + "upstreamId": "20922|140034|140035|140036|140038|140043|140044|140045|140046|140047|140048|140049|140050|140052|140053|178586|178587|178589|188434|188435|188458|188459|188463|189264|189285|189287|189291|189300|194666|212621|212622|221747|240192|258510|311851|396100|404774|457532|457989|481131|512827|625804|636409|799517|799518|799519|799520|919118|919119", "text": "Long QT syndrome 11" }, { - "baseId": 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"text": "Xeroderma pigmentosum variant type" }, { - "baseId": 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"text": "Familial hyperkalemic periodic paralysis" }, { - "baseId": "20935|20936|20939|20961", + "upstreamId": "20935|20936|20939|20961", "text": "Paramyotonia congenita/hyperkalemic periodic paralysis" }, { - "baseId": 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+ "upstreamId": 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"text": "Paramyotonia congenita of von Eulenburg" }, { - "baseId": "20939|65738|79451|263271|360889|513940|514033|514074|801513|965484|965579", + "upstreamId": "20939|65738|79451|263271|360889|513940|514033|514074|801513|965484|965579", "text": "Focal seizures" }, { - "baseId": "20940", + "upstreamId": "20940", "text": "Paramyotonia congenita/myotonia congenita" }, { - "baseId": 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+ "upstreamId": 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"text": "Potassium-aggravated myotonia" }, { - "baseId": "20941|20957|20958", + "upstreamId": "20941|20957|20958", "text": "Normokalemic periodic paralysis, potassium-sensitive" }, { - "baseId": "20945", + "upstreamId": "20945", "text": "Myotonia congenita, atypical, acetazolamide-responsive" }, { - "baseId": "20948", + "upstreamId": "20948", "text": "SCN4A-related disorder" }, { - "baseId": 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+ "upstreamId": 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"text": "Hypokalemic periodic paralysis, type 2" }, { - "baseId": 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"text": "Hypokalemic periodic paralysis 1" }, { - "baseId": 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+ "upstreamId": 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"text": "Congenital myasthenic syndrome, acetazolamide-responsive" }, { - "baseId": "20964|20965|20966|20967|20968|20969|20970|20971|20972|20973|20974|20975|20976|20977|20979|39362|251068|266845|289715|289720|289721|289724|289725|290487|290488|290489|290490|290494|290500|290501|290508|290510|293566|293570|293577|293578|293606|293610|293621|293622|293624|293644|294147|294148|294149|294155|294157|294163|294166|294167|294173|294176|294177|294178|294179|294182|432291|536194|536195|551446|679900|720351|790374|888526|888527|888528|888529|888530|888531|888532|888533|888534|888535|888536|888537|888538|888539|888540|888541|888542|888543|888544|888545|888546|888547|888548|888549|888550|888551|888552|888553|888554|888555|888556|888557|888558|888559|891630|921194|962698|970763", + "upstreamId": "20964|20965|20966|20967|20968|20969|20970|20971|20972|20973|20974|20975|20976|20977|20979|39362|251068|266845|289715|289720|289721|289724|289725|290487|290488|290489|290490|290494|290500|290501|290508|290510|293566|293570|293577|293578|293606|293610|293621|293622|293624|293644|294147|294148|294149|294155|294157|294163|294166|294167|294173|294176|294177|294178|294179|294182|432291|536194|536195|551446|679900|720351|790374|888526|888527|888528|888529|888530|888531|888532|888533|888534|888535|888536|888537|888538|888539|888540|888541|888542|888543|888544|888545|888546|888547|888548|888549|888550|888551|888552|888553|888554|888555|888556|888557|888558|888559|891630|921194|962698|970763", "text": "Primary hypomagnesemia" }, { - "baseId": "20978", + "upstreamId": "20978", "text": "Hypercalciuria, childhood, self-limiting" }, { - "baseId": "20980", + "upstreamId": "20980", "text": "Hypertension, diastolic, resistance to" }, { - "baseId": "20992|20993|172315|172315|172317|172319|366990|366994|368248|500572|518913|519128|538972|562485|562493|630982|630983|630984|827613|827614|931798|943367|953362", + "upstreamId": "20992|20993|172315|172315|172317|172319|366990|366994|368248|500572|518913|519128|538972|562485|562493|630982|630983|630984|827613|827614|931798|943367|953362", "text": "Glycogen storage disease XV" }, { - "baseId": "20994|20995|20996|20997|20998|20999|21000|21001|21002|21003|135764|135765|135766|265447|277092|277098|277101|277102|277109|277129|277131|277132|277134|277142|277367|277368|277371|277386|277388|277391|277392|277399|277400|277407|277414|278152|278186|278187|278202|278207|278216|278218|278225|278230|278232|278233|278234|278245|278255|364528|425321|485690|485691|498115|590454|590455|619963|620707|794474|862676|862677|862678|862679|862680|862681|862682|862683|862684|862685|862686|862687|862688|862689|862690|862691|862692|862693|862694|862695|862696|862697", + "upstreamId": "20994|20995|20996|20997|20998|20999|21000|21001|21002|21003|135764|135765|135766|265447|277092|277098|277101|277102|277109|277129|277131|277132|277134|277142|277367|277368|277371|277386|277388|277391|277392|277399|277400|277407|277414|278152|278186|278187|278202|278207|278216|278218|278225|278230|278232|278233|278234|278245|278255|364528|425321|485690|485691|498115|590454|590455|619963|620707|794474|862676|862677|862678|862679|862680|862681|862682|862683|862684|862685|862686|862687|862688|862689|862690|862691|862692|862693|862694|862695|862696|862697", "text": "Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness" }, { - "baseId": "21004|21005|21006|21007|21009|21010|88254|106456|177385|178020|227323|263798|265746|305498|305503|314723|431733|513070|551554|551555|551556|788828|799550|799551|799552|799553|799554|799555|818257|919160|919161|970882", + "upstreamId": "21004|21005|21006|21007|21009|21010|88254|106456|177385|178020|227323|263798|265746|305498|305503|314723|431733|513070|551554|551555|551556|788828|799550|799551|799552|799553|799554|799555|818257|919160|919161|970882", "text": "Retinitis pigmentosa 1" }, { - "baseId": "21011|21012|94254|364011|404818|463433|463435|463436|464000|464001|464017|464328|464330|464336|464337|464344|464443|464445|464446|464453|486753|486754|486755|527836|528268|528323|528324|528329|528331|528336|528339|528341|528698|528703|528780|566587|566601|567758|568236|568237|568238|572615|572884|572885|572890|642635|642636|642637|642638|652358|652560|652964|725762|739285|778076|778293|784746|784747|787976|820634|820635|820636|820637|820638|820639|820640|820641|841663|841664|841665|841666|841667|841668|841669|841670|841671|841672|841673|851571|851573|852011|927147|927148|927149|936685|936686|936687|940310|941065|948632|948633|948634|957264|960096", + "upstreamId": "21011|21012|94254|364011|404818|463433|463435|463436|464000|464001|464017|464328|464330|464336|464337|464344|464443|464445|464446|464453|486753|486754|486755|527836|528268|528323|528324|528329|528331|528336|528339|528341|528698|528703|528780|566587|566601|567758|568236|568237|568238|572615|572884|572885|572890|642635|642636|642637|642638|652358|652560|652964|725762|739285|778076|778293|784746|784747|787976|820634|820635|820636|820637|820638|820639|820640|820641|841663|841664|841665|841666|841667|841668|841669|841670|841671|841672|841673|851571|851573|852011|927147|927148|927149|936685|936686|936687|940310|941065|948632|948633|948634|957264|960096", "text": "Molybdenum cofactor deficiency, complementation group C" }, { - "baseId": "21012|292646|292670|297436|302791|313547|313556|313557|313576|313577|313581|313583|313584|313586|313588|313589|313593|313595|313596|313597|313604|313606|313615|313617|313619|319757|319758|319759|319760|319765|319773|319775|319776|319778|319789|319791|319799|319801|325930|325934|325935|325939|325940|325946|325957|325977|325978|325983|325988|325993|326885|326886|326890|326892|326893|326901|326902|326903|326919|326920|326923|326932|326947|326948|326956|326958|326962|353179|353180|353668", + "upstreamId": "21012|292646|292670|297436|302791|313547|313556|313557|313576|313577|313581|313583|313584|313586|313588|313589|313593|313595|313596|313597|313604|313606|313615|313617|313619|319757|319758|319759|319760|319765|319773|319775|319776|319778|319789|319791|319799|319801|325930|325934|325935|325939|325940|325946|325957|325977|325978|325983|325988|325993|326885|326886|326890|326892|326893|326901|326902|326903|326919|326920|326923|326932|326947|326948|326956|326958|326962|353179|353180|353668", "text": "Hyperekplexia" }, { - "baseId": "21012|31099|31100|31101|31102|31103|31104|31105|31106|31107|31108|31109|31110|31111|31112|31113|46891|46892|46893|46894|46896|46897|46898|46899|46901|46902|49426|166114|227283|296498|296505|296506|296507|296508|296512|296514|298404|298405|298406|298411|298412|298414|302510|302516|302517|302518|302524|302771|302779|302782|302783|302787|302789|302792|454765|454769|454773|454824|454825|454827|455328|455330|455624|455628|455632|480412|513277|520937|520942|520944|521175|521176|521181|521372|521413|521416|521426|521430|535737|559964|560221|560223|560225|560227|560229|560340|560342|560344|563001|563003|564942|564945|564948|564956|564966|564973|620781|633656|633657|633658|633659|633660|633661|633662|633663|633664|651228|651313|654380|691809|691810|709767|721338|721340|734980|764981|787318|798554|798555|830548|830549|830550|830551|830552|830553|830554|830555|830556|830557|830558|830559|830560|851270|893641|893642|893643|896065|896066|918937|923956|923957|923958|923959|932804|932805|932806|939997|940809|940810|944498|944499|944500|944501|944502|944503|944504|954097|954098|959760|960558", + "upstreamId": "21012|31099|31100|31101|31102|31103|31104|31105|31106|31107|31108|31109|31110|31111|31112|31113|46891|46892|46893|46894|46896|46897|46898|46899|46901|46902|49426|166114|227283|296498|296505|296506|296507|296508|296512|296514|298404|298405|298406|298411|298412|298414|302510|302516|302517|302518|302524|302771|302779|302782|302783|302787|302789|302792|454765|454769|454773|454824|454825|454827|455328|455330|455624|455628|455632|480412|513277|520937|520942|520944|521175|521176|521181|521372|521413|521416|521426|521430|535737|559964|560221|560223|560225|560227|560229|560340|560342|560344|563001|563003|564942|564945|564948|564956|564966|564973|620781|633656|633657|633658|633659|633660|633661|633662|633663|633664|651228|651313|654380|691809|691810|709767|721338|721340|734980|764981|787318|798554|798555|830548|830549|830550|830551|830552|830553|830554|830555|830556|830557|830558|830559|830560|851270|893641|893642|893643|896065|896066|918937|923956|923957|923958|923959|932804|932805|932806|939997|940809|940810|944498|944499|944500|944501|944502|944503|944504|954097|954098|959760|960558", "text": "Hyperekplexia 1" }, { - "baseId": "21013", + "upstreamId": "21013", "text": "FACTOR VII-ACTIVATING PROTEASE MARBURG I POLYMORPHISM" }, { - "baseId": "21013|31459", + "upstreamId": "21013|31459", "text": "Venous thromboembolism, susceptibility to" }, { - "baseId": "21013", + "upstreamId": "21013", "text": "THYROID CANCER, NONMEDULLARY, 5, SUSCEPTIBILITY TO" }, { - "baseId": "21013|309516|309517|309521|309526|309527|309531|309532|309533|309537|309539|309542|309544|309548|309555|309572|314323|314324|314334|314335|314336|314337|314338|314342|314345|314349|314354|320281|320283|320285|320300|320309|320310|320314|320316|320326|320341|320351|320354|320357|320359|320360|320366|320367|320745|320753|320754|320755|320759|320762|320770|320782|320793|320794|320808|320828|320830|320831|620345|723772|723773|723774|865445|865446|865447|865448|865449|865450|865451|865452|865453|865454|865455|865456|865457|865458|865459|865460|865461|865462|865463|865464|865465|865466|865467|865468|865469|865470|865471|865472|865473|865474|865475|865476|865477|865478|865479|865480|868445|868446|868447|868448|868449", + "upstreamId": "21013|309516|309517|309521|309526|309527|309531|309532|309533|309537|309539|309542|309544|309548|309555|309572|314323|314324|314334|314335|314336|314337|314338|314342|314345|314349|314354|320281|320283|320285|320300|320309|320310|320314|320316|320326|320341|320351|320354|320357|320359|320360|320366|320367|320745|320753|320754|320755|320759|320762|320770|320782|320793|320794|320808|320828|320830|320831|620345|723772|723773|723774|865445|865446|865447|865448|865449|865450|865451|865452|865453|865454|865455|865456|865457|865458|865459|865460|865461|865462|865463|865464|865465|865466|865467|865468|865469|865470|865471|865472|865473|865474|865475|865476|865477|865478|865479|865480|868445|868446|868447|868448|868449", "text": "Factor VII Marburg I Variant Thrombophilia" }, { - "baseId": "21014|21015|21016|21017|76940|143061|143062|143063|143064|143065|143066|143067|143069|143070|200259|200264|200267|200271|200273|200277|254851|273105|319895|319899|319904|319905|319909|319910|328423|328426|334877|334879|334881|334882|334883|334884|336683|336684|336721|336725|336748|336769|336775|336776|513339|527736|527765|612302|641944|677066|693381|693382|725502|753856|753857|769572|791345|861130|871370|871371|871372|871373|871374|871375|871376|871377|871378|871379|871380|871381|871382|872339|872340|872341|872342", + "upstreamId": "21014|21015|21016|21017|76940|143061|143062|143063|143064|143065|143066|143067|143069|143070|200259|200264|200267|200271|200273|200277|254851|273105|319895|319899|319904|319905|319909|319910|328423|328426|334877|334879|334881|334882|334883|334884|336683|336684|336721|336725|336748|336769|336775|336776|513339|527736|527765|612302|641944|677066|693381|693382|725502|753856|753857|769572|791345|861130|871370|871371|871372|871373|871374|871375|871376|871377|871378|871379|871380|871381|871382|872339|872340|872341|872342", "text": "Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)" }, { - "baseId": "21018", + "upstreamId": "21018", "text": "ABri amyloidosis" }, { - "baseId": "21019|964404", + "upstreamId": "21019|964404", "text": "ADan amyloidosis" }, { - "baseId": "21020|21020|39353|39354|39356|48063|48065|48065|53941|53943|53944|53945|53946|53947|53947|53948|53948|53949|53949|53950|53951|53951|53952|53953|53953|53956|53957|53958|53959|140194|140196|140196|140197|140198|166295|174606|174610|174612|174612|174613|174614|174615|174615|174616|174619|174620|174620|174883|174886|174887|174887|174888|174888|174889|174890|174893|174893|174894|174894|174896|174896|174897|174897|178610|178610|188821|189835|189836|189839|189841|189841|189842|189842|192373|192373|193540|198232|198233|198233|198236|198237|198238|221940|224381|224383|229736|229738|229739|229739|229741|229742|229744|236775|236776|240749|240750|240750|240751|240752|240753|258631|258632|258634|264448|267801|278736|309573|309573|309575|309576|314356|314357|314357|314361|314361|314365|320371|320373|320378|320381|320389|320389|320396|320396|320399|320399|320415|320416|320846|320847|320848|320849|320861|320862|359800|359829|359836|370643|371177|371184|371184|371190|371575|371576|371579|371583|397158|397162|397176|397397|397399|397400|397403|397406|397557|397564|397569|397630|397717|397725|397734|397739|397741|407817|407821|421776|421778|444560|459701|459894|459895|459898|460134|460138|460145|460151|460153|460617|495662|502751|502753|503135|503142|503287|503583|510148|510149|510150|510151|510154|510155|524982|524986|524987|524991|524993|525203|525204|525210|525319|525321|525323|525326|525411|525486|525490|525492|525499|525501|525506|525519|563588|563589|564497|564499|564504|564505|566103|566176|566178|566179|566181|566183|566184|566186|569508|569514|611727|638740|638741|638742|638743|638744|638745|638746|638747|638748|638749|638750|638751|638752|638753|638754|638755|638756|638757|652088|652124|652253|687590|687591|687592|687593|751987|767651|783543|783546|836651|836652|836653|836654|836654|836655|836656|836657|836658|836659|836660|836661|836662|836663|836664|836665|836666|836667|836668|836669|836670|836671|836672|836673|836674|836675|836676|836677|865481|865482|865483|865484|865485|865486|865487|865488|868450|925752|925753|925754|925755|925756|925757|925758|934965|934966|934967|934968|934969|934970|934971|934972|934973|934974|934975|940951|946826|946827|946828|946829|946830|946831|946832|946833|946834|946835|955991|955992|955993|955994|955995|955996|955997|955998|955999|956000|956001|956002|967230", + "upstreamId": 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"text": "Myofibrillar myopathy, BAG3-related" }, { - "baseId": "21020|39352|39353|39353|39354|39354|39355|39356|39356|48063|48063|48064|48065|48065|53941|53943|53944|53945|53946|53947|53947|53948|53948|53949|53950|53951|53951|53952|53953|53953|53956|53957|53958|53959|140194|140196|140196|140197|140198|174606|174610|174612|174612|174613|174614|174615|174615|174616|174619|174620|174620|174883|174886|174887|174888|174888|174889|174890|174893|174894|174894|174896|174896|174897|174897|178610|178610|188821|189835|189836|189839|189841|189841|189842|189842|192373|192373|193540|198232|198233|198233|198236|198237|198238|221940|224381|224383|229736|229738|229739|229739|229741|229742|229744|236775|236776|240749|240750|240750|240751|240752|240753|258631|258632|258634|264448|267801|309573|309573|309575|309576|314356|314357|314357|314361|314361|314365|320371|320373|320378|320381|320389|320389|320396|320396|320399|320399|320415|320416|320846|320847|320848|320849|320861|320862|359800|359829|359836|370643|371177|371184|371184|371190|371575|371576|371579|371583|397158|397162|397176|397178|397397|397399|397400|397403|397406|397557|397564|397567|397569|397630|397717|397725|397734|397739|397741|407817|407821|421776|421778|424965|444560|459701|459894|459895|459898|460134|460138|460145|460151|460153|460617|495662|502751|502753|503135|503142|503287|503583|510148|510149|510150|510151|510154|510155|524982|524986|524987|524991|524993|525203|525204|525210|525319|525321|525323|525326|525411|525486|525490|525492|525499|525501|525506|525519|538626|563588|563589|564497|564499|564504|564505|566103|566176|566178|566179|566181|566183|566184|566186|569508|569514|611727|625807|638740|638741|638742|638743|638744|638745|638746|638747|638748|638749|638750|638751|638752|638753|638754|638755|638756|638757|652088|652124|652253|687590|687591|687592|687593|751987|767651|783543|783546|800401|836651|836652|836653|836654|836654|836655|836656|836657|836658|836659|836660|836661|836662|836663|836664|836665|836666|836667|836668|836669|836670|836671|836672|836673|836674|836675|836676|836677|865481|865482|865483|865484|865485|865486|865487|865488|868450|925752|925753|925754|925755|925756|925757|925758|934965|934966|934967|934968|934969|934970|934971|934972|934973|934974|934975|940951|946826|946827|946828|946829|946830|946831|946832|946833|946834|946835|955991|955992|955993|955994|955995|955996|955997|955998|955999|956000|956001|956002", + "upstreamId": "21020|39352|39353|39353|39354|39354|39355|39356|39356|48063|48063|48064|48065|48065|53941|53943|53944|53945|53946|53947|53947|53948|53948|53949|53950|53951|53951|53952|53953|53953|53956|53957|53958|53959|140194|140196|140196|140197|140198|174606|174610|174612|174612|174613|174614|174615|174615|174616|174619|174620|174620|174883|174886|174887|174888|174888|174889|174890|174893|174894|174894|174896|174896|174897|174897|178610|178610|188821|189835|189836|189839|189841|189841|189842|189842|192373|192373|193540|198232|198233|198233|198236|198237|198238|221940|224381|224383|229736|229738|229739|229739|229741|229742|229744|236775|236776|240749|240750|240750|240751|240752|240753|258631|258632|258634|264448|267801|309573|309573|309575|309576|314356|314357|314357|314361|314361|314365|320371|320373|320378|320381|320389|320389|320396|320396|320399|320399|320415|320416|320846|320847|320848|320849|320861|320862|359800|359829|359836|370643|371177|371184|371184|371190|371575|371576|371579|371583|397158|397162|397176|397178|397397|397399|397400|397403|397406|397557|397564|397567|397569|397630|397717|397725|397734|397739|397741|407817|407821|421776|421778|424965|444560|459701|459894|459895|459898|460134|460138|460145|460151|460153|460617|495662|502751|502753|503135|503142|503287|503583|510148|510149|510150|510151|510154|510155|524982|524986|524987|524991|524993|525203|525204|525210|525319|525321|525323|525326|525411|525486|525490|525492|525499|525501|525506|525519|538626|563588|563589|564497|564499|564504|564505|566103|566176|566178|566179|566181|566183|566184|566186|569508|569514|611727|625807|638740|638741|638742|638743|638744|638745|638746|638747|638748|638749|638750|638751|638752|638753|638754|638755|638756|638757|652088|652124|652253|687590|687591|687592|687593|751987|767651|783543|783546|800401|836651|836652|836653|836654|836654|836655|836656|836657|836658|836659|836660|836661|836662|836663|836664|836665|836666|836667|836668|836669|836670|836671|836672|836673|836674|836675|836676|836677|865481|865482|865483|865484|865485|865486|865487|865488|868450|925752|925753|925754|925755|925756|925757|925758|934965|934966|934967|934968|934969|934970|934971|934972|934973|934974|934975|940951|946826|946827|946828|946829|946830|946831|946832|946833|946834|946835|955991|955992|955993|955994|955995|955996|955997|955998|955999|956000|956001|956002", "text": "Dilated cardiomyopathy 1HH" }, { - "baseId": "21021|21022|21023|21024|21025|21026|21027|21028|21029|21030|237033|255305|322978|322979|322988|322989|322993|322995|322996|332529|332530|332531|332533|332538|332539|332547|332549|332557|332562|332568|332575|332576|332580|332595|332597|339482|339485|339493|339499|339506|339509|339514|339515|340919|340922|340924|340926|340927|340931|340932|340935|340936|340943|404822|409311|429705|429706|445391|464784|464999|528934|528939|529048|529049|529382|567204|567206|569023|569534|569535|573417|643437|643438|643439|643440|643441|643442|652397|652680|652686|754546|784968|842554|842555|842556|842557|842558|842559|873876|873877|873878|873879|873880|873881|873882|873883|873884|873885|873886|873887|873888|873889|873890|873891|873892|873893|873894|873895|873896|873897|873898|873899|873900|873901|873902|873903|873904|873905|873906|873907|873908|873909|873910|873911|873912|873913|873914|876544|876545|927382|927383|927384|927385|936997|936998|941093|948949|957459|957460|963174", + "upstreamId": "21021|21022|21023|21024|21025|21026|21027|21028|21029|21030|237033|255305|322978|322979|322988|322989|322993|322995|322996|332529|332530|332531|332533|332538|332539|332547|332549|332557|332562|332568|332575|332576|332580|332595|332597|339482|339485|339493|339499|339506|339509|339514|339515|340919|340922|340924|340926|340927|340931|340932|340935|340936|340943|404822|409311|429705|429706|445391|464784|464999|528934|528939|529048|529049|529382|567204|567206|569023|569534|569535|573417|643437|643438|643439|643440|643441|643442|652397|652680|652686|754546|784968|842554|842555|842556|842557|842558|842559|873876|873877|873878|873879|873880|873881|873882|873883|873884|873885|873886|873887|873888|873889|873890|873891|873892|873893|873894|873895|873896|873897|873898|873899|873900|873901|873902|873903|873904|873905|873906|873907|873908|873909|873910|873911|873912|873913|873914|876544|876545|927382|927383|927384|927385|936997|936998|941093|948949|957459|957460|963174", "text": "Griscelli syndrome type 2" }, { - "baseId": "21031|21032|21033|21034|21035|21036|21037|21038|21039|46956|46958|46959|46960|46962|46963|142828|142829|142830|200257|319824|319829|319833|319837|319839|319841|319848|319850|319854|319857|319858|319859|319871|319872|319876|328351|328357|328359|328371|328373|328382|328383|328385|328386|334805|334809|334810|334814|334823|334824|334829|334831|334833|334838|334846|336535|336540|336546|336563|336565|336567|336568|336583|336589|336595|336610|336612|336614|336617|336620|336621|336629|336635|336651|372834|373857|375688|409028|426045|504803|538434|568548|572172|610519|641941|641942|641943|693379|693380|713928|753845|753846|776219|784603|840891|840892|840893|852540|871315|871316|871317|871318|871319|871320|871321|871322|871323|871324|871325|871326|871327|871328|871329|871330|871331|871332|871333|871334|871335|871336|871337|871338|871339|871340|871341|871342|871343|871344|871345|871346|871347|871348|871349|871350|871351|926918|926919|926920|936446|957105|957106|957107|961871|979378|979379|979380|979381|979382|979383", + "upstreamId": "21031|21032|21033|21034|21035|21036|21037|21038|21039|46956|46958|46959|46960|46962|46963|142828|142829|142830|200257|319824|319829|319833|319837|319839|319841|319848|319850|319854|319857|319858|319859|319871|319872|319876|328351|328357|328359|328371|328373|328382|328383|328385|328386|334805|334809|334810|334814|334823|334824|334829|334831|334833|334838|334846|336535|336540|336546|336563|336565|336567|336568|336583|336589|336595|336610|336612|336614|336617|336620|336621|336629|336635|336651|372834|373857|375688|409028|426045|504803|538434|568548|572172|610519|641941|641942|641943|693379|693380|713928|753845|753846|776219|784603|840891|840892|840893|852540|871315|871316|871317|871318|871319|871320|871321|871322|871323|871324|871325|871326|871327|871328|871329|871330|871331|871332|871333|871334|871335|871336|871337|871338|871339|871340|871341|871342|871343|871344|871345|871346|871347|871348|871349|871350|871351|926918|926919|926920|936446|957105|957106|957107|961871|979378|979379|979380|979381|979382|979383", "text": "Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome" }, { - "baseId": "21041|21042|21043|21044|21045|21046|34360|34369|97542|190535|191566|200164|200164|227314|247322|252988|252989|274313|303680|303681|303690|303693|303697|303698|303699|303706|303715|307111|307112|307115|307116|307119|307122|307124|307127|312042|312049|312060|312061|312066|312067|312069|312077|312078|312080|312094|312111|312113|312132|312144|404776|444192|493370|578465|586473|587153|588213|588761|620281|687143|692336|766492|898557|898558|898559|898560|898561|898562|898563|898564|898565|898566|898567|898568|898569|900421|900422|900423|900424", + "upstreamId": "21041|21042|21043|21044|21045|21046|34360|34369|97542|190535|191566|200164|200164|227314|247322|252988|252989|274313|303680|303681|303690|303693|303697|303698|303699|303706|303715|307111|307112|307115|307116|307119|307122|307124|307127|312042|312049|312060|312061|312066|312067|312069|312077|312078|312080|312094|312111|312113|312132|312144|404776|444192|493370|578465|586473|587153|588213|588761|620281|687143|692336|766492|898557|898558|898559|898560|898561|898562|898563|898564|898565|898566|898567|898568|898569|900421|900422|900423|900424", "text": "Citrullinemia type II" }, { - "baseId": "21041|21042|21043|21045|34360|34361|34362|34363|34364|34365|34366|34367|34368|34369|97542|200164|227314|247321|247322|247323|247324|247325|247326|404776|578465|581759|581761|801657|801658|801659|801660", + "upstreamId": "21041|21042|21043|21045|34360|34361|34362|34363|34364|34365|34366|34367|34368|34369|97542|200164|227314|247321|247322|247323|247324|247325|247326|404776|578465|581759|581761|801657|801658|801659|801660", "text": "Neonatal intrahepatic cholestasis caused by citrin deficiency" }, { - "baseId": "21041|21042|21043|21044|21045|34360|34364|34365|34367|34369|190535|191566|200164|227314|252990|271238|274313|274349|303698|303705|307115|307119|312065|312066|312094|312111|312113|312131|312132|312144|359822|369321|369322|370035|444192|458113|491041|492959|493326|493362|562318|567289|584576|585995|587153|588036|636492|636493|636494|636495|687143|692336|736363|750859|766492|766493|775202|775388|775429|790765|819926|819927|819928|833998|833999|834000|834001|834002|834003|851169|852395|852404|924962|924963|934048|934049|934050|934051|940886|945806|945807|955265|955266", + "upstreamId": "21041|21042|21043|21044|21045|34360|34364|34365|34367|34369|190535|191566|200164|227314|252990|271238|274313|274349|303698|303705|307115|307119|312065|312066|312094|312111|312113|312131|312132|312144|359822|369321|369322|370035|444192|458113|491041|492959|493326|493362|562318|567289|584576|585995|587153|588036|636492|636493|636494|636495|687143|692336|736363|750859|766492|766493|775202|775388|775429|790765|819926|819927|819928|833998|833999|834000|834001|834002|834003|851169|852395|852404|924962|924963|934048|934049|934050|934051|940886|945806|945807|955265|955266", "text": "Citrin deficiency" }, { - "baseId": "21041|21044|34360|34369|190535|200164|227314|252988|274313|274349|303698|307115|312066|312094|567289|587153|687143|736363|766489|766492|978407|978408", + "upstreamId": "21041|21044|34360|34369|190535|200164|227314|252988|274313|274349|303698|307115|312066|312094|567289|587153|687143|736363|766489|766492|978407|978408", "text": "Late-onset citrullinemia" }, { - "baseId": "21047|21048|21049|21050|23797|28986|32735|33371|33372|138774|173810|173950|193532|229170|229171|229172|229173|231108|239357|239358|239359|239360|239361|239362|239363|239365|239366|239367|251487|251488|293425|293427|293428|293429|293433|293434|294824|294826|294836|294838|294839|294840|294843|294845|294846|294847|294855|294856|298453|298454|298455|298463|298466|298467|298468|298514|298516|298526|298527|298528|298529|298530|298538|298545|298546|393909|393911|393914|393919|393921|393925|393932|393933|394151|394152|394161|394164|394338|394351|394357|394360|394361|394366|421488|453167|453172|453174|453175|453177|453179|453183|453186|453196|453433|453438|453440|453451|453453|453455|453540|453541|453544|453546|453548|453549|453551|453553|453915|453916|453918|453919|453920|453924|453925|453927|453929|453930|473502|473506|473766|473769|473769|496319|496812|519909|519914|519926|519932|519937|519944|519952|519953|520167|520169|520172|520177|520191|520194|520196|520197|520198|520200|520204|520206|520208|552081|559683|559685|559687|559689|559691|559693|559840|559844|559846|559848|562017|563711|563716|563717|632205|632206|632207|632208|632209|632211|632212|632213|632214|632216|632217|632218|632219|632220|632221|632222|632223|632225|632226|632227|632228|632229|683633|686517|686518|686519|686522|686523|691563|691565|691566|691567|691568|709366|720981|748945|764465|774954|781958|790473|791190|807711|807714|829152|829153|829154|829155|829156|829157|829158|829159|829160|829161|829162|829163|829164|829165|829166|829167|829168|829169|829170|829171|829172|829173|829174|829175|829176|851504|857368|857369|857370|890665|890666|890667|890668|890669|890670|890671|890672|890673|890674|890675|890676|890677|890678|918895|973021", + "upstreamId": "21047|21048|21049|21050|23797|28986|32735|33371|33372|138774|173810|173950|193532|229170|229171|229172|229173|231108|239357|239358|239359|239360|239361|239362|239363|239365|239366|239367|251487|251488|293425|293427|293428|293429|293433|293434|294824|294826|294836|294838|294839|294840|294843|294845|294846|294847|294855|294856|298453|298454|298455|298463|298466|298467|298468|298514|298516|298526|298527|298528|298529|298530|298538|298545|298546|393909|393911|393914|393919|393921|393925|393932|393933|394151|394152|394161|394164|394338|394351|394357|394360|394361|394366|421488|453167|453172|453174|453175|453177|453179|453183|453186|453196|453433|453438|453440|453451|453453|453455|453540|453541|453544|453546|453548|453549|453551|453553|453915|453916|453918|453919|453920|453924|453925|453927|453929|453930|473502|473506|473766|473769|473769|496319|496812|519909|519914|519926|519932|519937|519944|519952|519953|520167|520169|520172|520177|520191|520194|520196|520197|520198|520200|520204|520206|520208|552081|559683|559685|559687|559689|559691|559693|559840|559844|559846|559848|562017|563711|563716|563717|632205|632206|632207|632208|632209|632211|632212|632213|632214|632216|632217|632218|632219|632220|632221|632222|632223|632225|632226|632227|632228|632229|683633|686517|686518|686519|686522|686523|691563|691565|691566|691567|691568|709366|720981|748945|764465|774954|781958|790473|791190|807711|807714|829152|829153|829154|829155|829156|829157|829158|829159|829160|829161|829162|829163|829164|829165|829166|829167|829168|829169|829170|829171|829172|829173|829174|829175|829176|851504|857368|857369|857370|890665|890666|890667|890668|890669|890670|890671|890672|890673|890674|890675|890676|890677|890678|918895|973021", "text": "Congenital central hypoventilation" }, { - "baseId": "21047|33373|138773|229171|393924|394157|453185|453435|473580|473763|520153|520182|520184|520191|559842|562022|563704|563707|632210|632215|632224|807706|807716|807720|807721|807725|807737|857370|923515|923516|923517|923518|923519|932339|932340|932341|932342|932343|932344|932345|932346|932347|932348|932349|932350|932351|939968|943999|944000|944001|944002|944003|944004|944005|944006|944007|944008|944009|944010|944011|944012|953776|953777|953778|953779|953780", + "upstreamId": "21047|33373|138773|229171|393924|394157|453185|453435|473580|473763|520153|520182|520184|520191|559842|562022|563704|563707|632210|632215|632224|807706|807716|807720|807721|807725|807737|857370|923515|923516|923517|923518|923519|932339|932340|932341|932342|932343|932344|932345|932346|932347|932348|932349|932350|932351|939968|943999|944000|944001|944002|944003|944004|944005|944006|944007|944008|944009|944010|944011|944012|953776|953777|953778|953779|953780", "text": "Haddad syndrome" }, { - "baseId": "21047", + "upstreamId": "21047", "text": "Central hypoventilation syndrome, late-onset" }, { - "baseId": "21050|21053|173810|173950|229171|229172|229173|239357|239362|239363|239365|239366|293425|293427|293428|293433|293434|294824|294826|294836|294838|294839|294840|294843|294845|294846|294847|294856|298453|298454|298455|298463|298466|298468|298514|298516|298526|298527|298529|298530|298538|298545|298546|473766|473769|520191|890665|890666|890667|890668|890669|890670|890671|890672|890673|890674|890675|890676|890677|890678", + "upstreamId": "21050|21053|173810|173950|229171|229172|229173|239357|239362|239363|239365|239366|293425|293427|293428|293433|293434|294824|294826|294836|294838|294839|294840|294843|294845|294846|294847|294856|298453|298454|298455|298463|298466|298468|298514|298516|298526|298527|298529|298530|298538|298545|298546|473766|473769|520191|890665|890666|890667|890668|890669|890670|890671|890672|890673|890674|890675|890676|890677|890678", "text": "Neuroblastoma 2" }, { - "baseId": "21051|21052", + "upstreamId": "21051|21052", "text": "Neuroblastoma with Hirschsprung disease" }, { - "baseId": "21054|211614|211619|211619|211626|244178|247683|247684|247685|247686|247688|247689|361204|590603|590604|610426|610426|677437|791229|791230|791231|791232|919426|963114|964383|973843", + "upstreamId": "21054|211614|211619|211619|211626|244178|247683|247684|247685|247686|247688|247689|361204|590603|590604|610426|610426|677437|791229|791230|791231|791232|919426|963114|964383|973843", "text": "Encephalopathy due to defective mitochondrial and peroxisomal fission 1" }, { - "baseId": "21055|21056|21057|142196|660883|788777|971340", + "upstreamId": "21055|21056|21057|142196|660883|788777|971340", "text": "Mitochondrial complex 1 deficiency, nuclear type 9" }, { - "baseId": "21058|21059|142193|626077", + "upstreamId": "21058|21059|142193|626077", "text": "Mitochondrial complex 1 deficiency, nuclear type 8" }, { - "baseId": 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+ "upstreamId": "21060|21061|21061|21062|21064|21067|21067|21069|21072|21074|49657|101181|101181|186786|186788|191188|191188|192405|192405|193572|193572|194345|214934|253557|265528|266509|266511|266513|266783|266783|267092|267092|267466|267515|267515|268174|268685|268685|268688|268688|268728|269019|269057|269889|269922|270173|270389|270390|270409|270409|270676|271685|272186|272366|272669|272901|273291|274433|274456|274456|274461|274950|308311|308317|308318|308319|308320|308328|308329|308332|308334|308336|312724|312726|312735|312736|312737|312743|312744|312747|312748|312751|312752|312765|312768|312769|312771|312787|312793|312794|318605|318606|318613|318614|318616|318617|318619|318620|318627|318628|318635|318636|318637|318638|318640|318641|319156|319158|319161|319171|319172|319173|319182|319195|319201|319202|319203|319204|357803|370935|411514|444498|458653|459245|459549|459552|459556|459604|460097|489260|490006|490746|491769|491769|493162|503160|503160|524630|524633|524994|525157|525160|545150|545261|545444|563268|563269|564052|564059|564059|564067|564068|564070|565919|565922|569096|569103|569104|569105|569109|569120|587700|588110|588223|589743|620333|638318|638318|638319|638323|651848|655968|692674|692675|692676|692677|692678|723569|737133|767418|820140|820141|836158|836159|836160|836161|836162|836163|852188|902030|902031|902032|902033|902034|902035|902036|902037|902038|902039|902040|902041|902042|902043|902044|902045|902046|902047|902048|902049|902050|902051|902052|902053|902054|902055|902056|903407|925600|925601|934778|934779|934780|934781|934782|934783|946637|946638|946639|955851|955852|955853|955854", "text": "Sialuria" }, { - "baseId": 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+ "upstreamId": 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"text": "GNE myopathy" }, { - "baseId": "21077", + "upstreamId": "21077", "text": "Caudal duplication anomaly" }, { - "baseId": "21078|141341|141342|167429|167430|167431|167432|167433|322550|322553|322554|322556|322560|331962|331966|331968|331975|331976|331982|331996|332002|332007|338948|338950|338952|338953|338960|338967|338969|338975|338977|340557|340558|340559|340562|340563|340565|340567|340569|340571|620514|703218|873534|873535|873536|873537|873538|873539|873540|873541|873542|873543|873544|873545|873546|873547|873548|873549|873550|873551|876512|876513|876514", + "upstreamId": "21078|141341|141342|167429|167430|167431|167432|167433|322550|322553|322554|322556|322560|331962|331966|331968|331975|331976|331982|331996|332002|332007|338948|338950|338952|338953|338960|338967|338969|338975|338977|340557|340558|340559|340562|340563|340565|340567|340569|340571|620514|703218|873534|873535|873536|873537|873538|873539|873540|873541|873542|873543|873544|873545|873546|873547|873548|873549|873550|873551|876512|876513|876514", "text": "Peeling skin syndrome 2" }, { - "baseId": "21079|21080|21081|21082|21083|21084|21085|21086|21087|21088|21089|21090|193538|193539|227499|267611|267835|268588|270886|270894|273278|310812|310813|310820|310829|310830|310831|310832|310842|310844|310848|310850|310852|310858|310859|310862|310864|310866|310868|310870|310878|310884|310887|310890|310892|310895|310899|310907|310918|310919|310928|310929|310930|310931|316068|316069|316072|316073|316074|316082|316090|316094|316099|316103|316111|316112|316114|316120|316133|316144|316148|316149|316156|316162|316169|316174|316175|316176|316177|316180|316181|316189|316190|316200|316201|316204|316205|316210|316220|316221|316223|316226|322169|322170|322172|322183|322185|322190|322191|322192|322196|322197|322199|322200|322212|322213|322218|322231|322232|322233|322236|322239|322240|322241|322242|322245|322246|322254|322260|322261|322266|322267|322274|322275|322276|322780|322783|322784|322785|322786|322789|322790|322801|322802|322803|322804|322806|322807|322808|322815|322816|322822|322831|322832|322845|322849|322876|322879|322880|322882|322887|322888|322890|322891|322892|322893|322894|322896|322900|425884|472248|472249|512920|513596|513597|525455|620369|701425|724055|752256|789125|816473|866183|866184|866185|866186|866187|866188|866189|866190|866191|866192|866193|866194|866195|866196|866197|866198|866199|866200|866201|866202|866203|866204|866205|866206|866207|866208|866209|866210|866211|866212|866213|866214|866215|866216|866217|866218|866219|866220|866221|866222|866223|866224|866225|866226|866227|866228|866229|866230|866231|866232|866233|866234|866235|866236|866237|866238|866239|866240|935169|935170|947062|947063|956200|956201|956202", + "upstreamId": "21079|21080|21081|21082|21083|21084|21085|21086|21087|21088|21089|21090|193538|193539|227499|267611|267835|268588|270886|270894|273278|310812|310813|310820|310829|310830|310831|310832|310842|310844|310848|310850|310852|310858|310859|310862|310864|310866|310868|310870|310878|310884|310887|310890|310892|310895|310899|310907|310918|310919|310928|310929|310930|310931|316068|316069|316072|316073|316074|316082|316090|316094|316099|316103|316111|316112|316114|316120|316133|316144|316148|316149|316156|316162|316169|316174|316175|316176|316177|316180|316181|316189|316190|316200|316201|316204|316205|316210|316220|316221|316223|316226|322169|322170|322172|322183|322185|322190|322191|322192|322196|322197|322199|322200|322212|322213|322218|322231|322232|322233|322236|322239|322240|322241|322242|322245|322246|322254|322260|322261|322266|322267|322274|322275|322276|322780|322783|322784|322785|322786|322789|322790|322801|322802|322803|322804|322806|322807|322808|322815|322816|322822|322831|322832|322845|322849|322876|322879|322880|322882|322887|322888|322890|322891|322892|322893|322894|322896|322900|425884|472248|472249|512920|513596|513597|525455|620369|701425|724055|752256|789125|816473|866183|866184|866185|866186|866187|866188|866189|866190|866191|866192|866193|866194|866195|866196|866197|866198|866199|866200|866201|866202|866203|866204|866205|866206|866207|866208|866209|866210|866211|866212|866213|866214|866215|866216|866217|866218|866219|866220|866221|866222|866223|866224|866225|866226|866227|866228|866229|866230|866231|866232|866233|866234|866235|866236|866237|866238|866239|866240|935169|935170|947062|947063|956200|956201|956202", "text": "Spondyloepiphyseal dysplasia with congenital joint dislocations" }, { - "baseId": "21091", + "upstreamId": "21091", "text": "Long QT syndrome 6, acquired, susceptibility to" }, { - "baseId": "21091|21092|21093|21094|21094|78507|78508|78510|78511|78515|78517|78519|188750|188753|188755|188967|336609|336611|346324|346325|350564|351605|351606|378479|470616|471142|533812|551797|573766|575144|648944|680056|689239|689241|694624|848733|886690|886691|886692|886693|886694|939091|951214|951215", + "upstreamId": "21091|21092|21093|21094|21094|78507|78508|78510|78511|78515|78517|78519|188750|188753|188755|188967|336609|336611|346324|346325|350564|351605|351606|378479|470616|471142|533812|551797|573766|575144|648944|680056|689239|689241|694624|848733|886690|886691|886692|886693|886694|939091|951214|951215", "text": "Long QT syndrome 6" }, { - "baseId": "21091|21093|21094|21094|188750|188753|336609|336611|346324|346325|350564|351605|351606|886690|886691|886692|886693|886694", + "upstreamId": "21091|21093|21094|21094|188750|188753|336609|336611|346324|346325|350564|351605|351606|886690|886691|886692|886693|886694", "text": "Atrial fibrillation, familial, 4" }, { - "baseId": "21092|21093|21793|24432|33096|33097|33098|33099|44335|44351|44352|44353|44355|44356|44362|44431|44433|44434|44435|44436|44677|45087|45088|45089|45090|45091|45097|45098|45099|45100|45101|45134|45323|45324|45395|45401|45403|45406|45410|45417|45418|45420|54113|54182|54194|67645|67688|67792|78495|142592|175842|178650|188443|188452|188472|188668|188670|189253|189317|197104|197133|197134|197139|197142|197148|197150|197151|197158|197169|197174|197233|197253|197290|197294|197310|197313|197315|197325|197337|197350|197358|197365|197366|197375|197410|197464|198400|205385|205386|212999|226589|226591|243021|258310|269766|272264|376870|376874|402610|403204|406276|407049|456069|496730|532114|647054|647055|653064|679712|805511|846653|846654|846655|846656|906081|915029|917003|917085|921473|928653|928654|938373|950445|972557", + "upstreamId": "21092|21093|21793|24432|33096|33097|33098|33099|44335|44351|44352|44353|44355|44356|44362|44431|44433|44434|44435|44436|44677|45087|45088|45089|45090|45091|45097|45098|45099|45100|45101|45134|45323|45324|45395|45401|45403|45406|45410|45417|45418|45420|54113|54182|54194|67645|67688|67792|78495|142592|175842|178650|188443|188452|188472|188668|188670|189253|189317|197104|197133|197134|197139|197142|197148|197150|197151|197158|197169|197174|197233|197253|197290|197294|197310|197313|197315|197325|197337|197350|197358|197365|197366|197375|197410|197464|198400|205385|205386|212999|226589|226591|243021|258310|269766|272264|376870|376874|402610|403204|406276|407049|456069|496730|532114|647054|647055|653064|679712|805511|846653|846654|846655|846656|906081|915029|917003|917085|921473|928653|928654|938373|950445|972557", "text": "Cardiac arrhythmia" }, { - "baseId": "21092|188755", + "upstreamId": "21092|188755", "text": "KCNE2-Related Disorders" }, { - "baseId": "21095|24415", + "upstreamId": "21095|24415", "text": "Long qt syndrome 3/6, digenic" }, { - "baseId": "21096|21097|21098|21099|21100|29068|49653|49654|49655|204476|204477|213146|213147|213148|222442|222443|222444|222445|242188|244939|324039|324052|324063|324064|324076|324077|333657|333661|333665|333667|333670|333671|333676|333679|333681|333683|333687|333693|333695|333702|333704|340438|340441|340443|340444|340450|340452|340460|340464|340466|340468|341817|341818|341834|341839|341846|341848|374598|400519|401091|401097|445487|465485|465606|465607|465712|529277|529320|529599|529600|537259|567581|567589|567593|569767|569856|569859|569860|573687|573688|625311|643811|643812|643813|643814|643815|643816|643817|643818|643819|643820|643821|684571|688521|688522|785111|820761|842979|842980|842981|842982|874603|874604|874605|874606|874607|874608|874609|874610|874611|874612|874613|874614|874615|874616|874617|874618|927530|927531|927532|940340|949134|957594|957595", + "upstreamId": "21096|21097|21098|21099|21100|29068|49653|49654|49655|204476|204477|213146|213147|213148|222442|222443|222444|222445|242188|244939|324039|324052|324063|324064|324076|324077|333657|333661|333665|333667|333670|333671|333676|333679|333681|333683|333687|333693|333695|333702|333704|340438|340441|340443|340444|340450|340452|340460|340464|340466|340468|341817|341818|341834|341839|341846|341848|374598|400519|401091|401097|445487|465485|465606|465607|465712|529277|529320|529599|529600|537259|567581|567589|567593|569767|569856|569859|569860|573687|573688|625311|643811|643812|643813|643814|643815|643816|643817|643818|643819|643820|643821|684571|688521|688522|785111|820761|842979|842980|842981|842982|874603|874604|874605|874606|874607|874608|874609|874610|874611|874612|874613|874614|874615|874616|874617|874618|927530|927531|927532|940340|949134|957594|957595", "text": "Charcot-Marie-Tooth disease, type 1C" }, { - "baseId": "21101|21102|21103|21104|21105|21106|21108|21115|21116|792772", + "upstreamId": "21101|21102|21103|21104|21105|21106|21108|21115|21116|792772", "text": "Rothmund-Thomson syndrome type 2" }, { - "baseId": "21102|21102|21105|138872|138883|138909|207535|227319|240254|240305|240306|240322|253085|273145|395934|395939|396036|396053|396068|396151|396205|396253|396290|396314|396345|396668|396734|396762|457586|458168|458182|458213|458223|458324|458533|523739|523748|523840|550605|550606|552121|562098|562135|562527|564840|654505", + "upstreamId": "21102|21102|21105|138872|138883|138909|207535|227319|240254|240305|240306|240322|253085|273145|395934|395939|396036|396053|396068|396151|396205|396253|396290|396314|396345|396668|396734|396762|457586|458168|458182|458213|458223|458324|458533|523739|523748|523840|550605|550606|552121|562098|562135|562527|564840|654505", "text": "Rothmund-Thomson syndrome" }, { - "baseId": 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7|834358|834359|834360|834361|834362|834363|834364|834365|834366|834367|834368|834369|834370|834371|834372|834373|834374|834375|834376|834377|834378|834379|834380|834381|834382|834383|834384|834385|834386|834387|834388|834389|834390|834391|834392|834393|834394|834395|834396|834397|834398|834399|834400|834401|834402|834403|834404|834405|834406|834407|834408|834409|834410|834411|834412|834413|834414|834415|834416|834417|834418|834419|834420|834421|834422|834423|834424|834425|834426|834427|834428|834429|834430|834431|834432|834433|834434|834435|834436|834437|834438|834439|834440|834441|834442|834443|834444|834445|834446|834447|834448|834449|834450|834451|834452|834453|834454|834455|834456|834457|834458|834459|834460|834461|834462|834463|834464|834465|834466|834467|834468|834469|834470|834471|834472|834473|834474|834475|834476|834477|834478|834479|834480|834481|834482|834483|834484|834485|834486|834487|834488|834489|834490|834491|834492|834493|834494|834495|834496|834497|834498|834499|834500|834501|834502|834503|834504|834505|834506|834507|834508|834509|834510|834511|834512|834513|834514|834515|834516|834517|834518|834519|834520|851187|851189|851191|851674|851676|851678|851680|852120|852122|852424|852425|852427|852431|852435|925079|925080|925081|925082|925083|925084|925085|925086|925087|925088|925089|925090|925091|925092|925093|925094|925095|925096|925097|925098|925099|925100|925101|925102|925103|925104|925105|925106|925107|925108|925109|925110|925111|925112|925113|925114|925115|925116|925117|925118|925119|925120|925121|925122|925123|925124|925125|925126|925127|925128|925129|925130|925131|925132|925133|925134|934166|934167|934168|934169|934170|934171|934172|934173|934174|934175|934176|934177|934178|934179|934180|934181|934182|934183|934184|934185|934186|934187|934188|934189|934190|934191|934192|934193|934194|934195|934196|934197|934198|934199|934200|934201|934202|934203|934204|934205|934206|934207|934208|934209|934210|934211|934212|934213|934214|934215|934216|934217|934218|934219|934220|934221|934222|934223|934224|934225|934226|934227|940093|940094|940095|940892|940893|940894|940895|940896|945929|945930|945931|945932|945933|945934|945935|945936|945937|945938|945939|945940|945941|945942|945943|945944|945945|945946|945947|945948|945949|945950|945951|945952|945953|945954|945955|945956|945957|945958|945959|945960|945961|945962|945963|945964|945965|945966|945967|945968|945969|945970|945971|945972|945973|945974|945975|945976|945977|945978|945979|945980|945981|945982|945983|945984|945985|945986|945987|945988|945989|945990|945991|945992|945993|945994|955345|955346|955347|955348|955349|955350|955351|955352|955353|955354|955355|955356|955357|955358|955359|955360|955361|955362|955363|955364|955365|955366|955367|955368|955369|955370|955371|955372|955373|955374|955375|959881|959882|959883|960646|960647|960648", "text": "Baller-Gerold syndrome" }, { - "baseId": "21102|21103|21105|21109|21110|21111|71037|71038|71040|71041|71042|71043|71044|71045|71046|71047|71048|71049|138872|138883|138909|138913|207535|227319|240251|240254|240305|240306|240322|273145|395934|395939|396036|396053|396068|396151|396205|396253|396290|396314|396345|396668|396734|396762|457586|458168|458182|458213|458223|458533|523739|523748|523840|562098|562135|562527|564840|792772", + "upstreamId": "21102|21103|21105|21109|21110|21111|71037|71038|71040|71041|71042|71043|71044|71045|71046|71047|71048|71049|138872|138883|138909|138913|207535|227319|240251|240254|240305|240306|240322|273145|395934|395939|396036|396053|396068|396151|396205|396253|396290|396314|396345|396668|396734|396762|457586|458168|458182|458213|458223|458533|523739|523748|523840|562098|562135|562527|564840|792772", "text": "Rapadilino syndrome" }, { - "baseId": "21105|151724|235216|240867|612018", + "upstreamId": "21105|151724|235216|240867|612018", "text": "B lymphoblastic leukemia lymphoma with t(12" }, { - "baseId": "21105|151724|235216|240867|612018", + "upstreamId": "21105|151724|235216|240867|612018", "text": "21)(p13" }, { - "baseId": "21105|151724|235216|240867|612018", + "upstreamId": "21105|151724|235216|240867|612018", "text": "q22)" }, { - "baseId": "21105|151724|235216|240867|612018", + "upstreamId": "21105|151724|235216|240867|612018", "text": " TEL-AML1 (ETV6-RUNX1)" }, { - "baseId": "21105", + "upstreamId": "21105", "text": "High grade surface osteosarcoma" }, { - "baseId": "21117|282312|284954|284978|294991|294993|294994|294999|295001|295003|295005|296735|296738|296739|296761|296766|296767|296780|300450|300451|300469|300471|300472|300482|300483|300484|300495|300496|300497|300501|300509|300518|300525|300540|300542|300543|300573|300574|709594|892659|892660|892661|892662|892663|892664|892665|892666|892667|892668|892669|892670|892671|892672|892673|892674|892675|892676|892677|892678|892679|892680|892681|892682|892683|892684|892685|892686|892687|892688|892689|896015|896016|896017|896018|896019", + "upstreamId": "21117|282312|284954|284978|294991|294993|294994|294999|295001|295003|295005|296735|296738|296739|296761|296766|296767|296780|300450|300451|300469|300471|300472|300482|300483|300484|300495|300496|300497|300501|300509|300518|300525|300540|300542|300543|300573|300574|709594|892659|892660|892661|892662|892663|892664|892665|892666|892667|892668|892669|892670|892671|892672|892673|892674|892675|892676|892677|892678|892679|892680|892681|892682|892683|892684|892685|892686|892687|892688|892689|896015|896016|896017|896018|896019", "text": "Parkinson Disease, Dominant/Recessive" }, { - "baseId": "21118|187180|272347", + "upstreamId": "21118|187180|272347", "text": "Amelogenesis imperfecta, hypomaturation type, IIA1" }, { - "baseId": "21119|21120|76004", + "upstreamId": "21119|21120|76004", "text": "Hyalinosis, Segmental Glomerular" }, { - "baseId": "21119|21119|21119|21120|76004|76004|76004|94312|94313|187048|224284|224551|254892|300480|300481|300486|300490|303316|303334|303337|303339|303341|303360|303367|303368|307806|307807|307827|307844|307849|307850|307851|307878|307879|307895|308000|308002|308025|308028|308030|308031|308033|308040|312031|312041|317704|323715|324424|335402|353794|514037|590302|801121|801163", + "upstreamId": "21119|21119|21119|21120|76004|76004|76004|94312|94313|187048|224284|224551|254892|300480|300481|300486|300490|303316|303334|303337|303339|303341|303360|303367|303368|307806|307807|307827|307844|307849|307850|307851|307878|307879|307895|308000|308002|308025|308028|308030|308031|308033|308040|312031|312041|317704|323715|324424|335402|353794|514037|590302|801121|801163", "text": "Focal segmental glomerulosclerosis" }, { - "baseId": "21119|76004", + "upstreamId": "21119|76004", "text": "Sickled erythrocytes" }, { - "baseId": "21119|76004|491214|918506|918507|918508|918510|918511|918514", + "upstreamId": "21119|76004|491214|918506|918507|918508|918510|918511|918514", "text": "Glomerulonephritis (disease)" }, { - "baseId": "21120|622786|622787", + "upstreamId": "21120|622786|622787", "text": "Focal segmental glomerulosclerosis 4, susceptibility to" }, { - "baseId": "21121|21122|21123|48137|48138|48139|48140|48141|48142|48143|48144|48145|48146|209356|256545|260198|260199|330521|330522|330523|330524|330530|330531|330535|330538|330547|340749|340751|340753|340755|340759|340763|340770|340771|340772|340780|340782|340784|340788|346360|346361|346363|346365|346366|346373|346376|346380|346383|346384|346388|346395|347725|347730|347731|347737|361028|376789|390231|410306|414711|414712|414714|431019|431020|612323|612324|620613|620892|622245|622246|622247|622248|622249|622250|622251|622252|622253|622254|622255|622256|622265|756261|756263|788917|791844|797623|860450|878790|878791|878792|878793|878794|878795|878796|878797|878798|878799|878800|878801|878802|878803|878804|880618|880619|880620|880621|880622|880623|919782|971098|971099|980961|983363|983364|983365|983366|983367|983368|983369|983370|983371|983372|983373|983374|983375|983376|983377|983378|983379|983380|983381|983382|983383|983384|983385|983386|983387|983388|983389|983390|983391|983392|983393|983394|983395|983396|983397|983398|983399|983400|983401|983402|983403|983404|983405|983406|983407|983408|983409|983410|983411|983412|983413|983414|983415|983416|983417|983418|983419|983420|983421|983422|983423|983424|983425|983426|983427|983428|983429|983430|983431|983432|983433|983434|983435|983436|983437|983438|983439|983440|983441|983442|983443|983444|983445|983446|983447|983448|983449|983450|983451|983452|983453", + "upstreamId": "21121|21122|21123|48137|48138|48139|48140|48141|48142|48143|48144|48145|48146|209356|256545|260198|260199|330521|330522|330523|330524|330530|330531|330535|330538|330547|340749|340751|340753|340755|340759|340763|340770|340771|340772|340780|340782|340784|340788|346360|346361|346363|346365|346366|346373|346376|346380|346383|346384|346388|346395|347725|347730|347731|347737|361028|376789|390231|410306|414711|414712|414714|431019|431020|612323|612324|620613|620892|622245|622246|622247|622248|622249|622250|622251|622252|622253|622254|622255|622256|622265|756261|756263|788917|791844|797623|860450|878790|878791|878792|878793|878794|878795|878796|878797|878798|878799|878800|878801|878802|878803|878804|880618|880619|880620|880621|880622|880623|919782|971098|971099|980961|983363|983364|983365|983366|983367|983368|983369|983370|983371|983372|983373|983374|983375|983376|983377|983378|983379|983380|983381|983382|983383|983384|983385|983386|983387|983388|983389|983390|983391|983392|983393|983394|983395|983396|983397|983398|983399|983400|983401|983402|983403|983404|983405|983406|983407|983408|983409|983410|983411|983412|983413|983414|983415|983416|983417|983418|983419|983420|983421|983422|983423|983424|983425|983426|983427|983428|983429|983430|983431|983432|983433|983434|983435|983436|983437|983438|983439|983440|983441|983442|983443|983444|983445|983446|983447|983448|983449|983450|983451|983452|983453", "text": "Autosomal recessive congenital ichthyosis 2" }, { - "baseId": 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+ "upstreamId": "21124|21125|21126|88393|141272|141273|141274|141275|141276|141277|141278|141279|141280|141281|141282|141283|141284|141285|141286|141287|191902|243831|243832|243833|243834|243835|244529|244530|244531|244532|244533|244534|244535|244536|253259|253260|253261|253262|253263|253264|253265|269477|306456|306458|306459|306461|306462|306463|306467|306476|306478|310576|310577|310578|310586|310589|310606|310611|310614|310622|310624|310631|310640|310642|310644|310645|310651|310664|315955|315968|315977|315983|315991|316011|316012|316017|316018|316019|316022|316025|316029|316030|316245|316268|316269|316271|316278|316286|316288|316297|316298|316299|316308|316309|316312|316313|316314|316319|316320|316321|316330|316342|316344|353849|357770|357771|357772|357773|357774|359749|369658|370160|370169|370442|370453|372073|372077|397013|407512|433642|458177|458185|458188|458189|458192|458682|458697|458703|458705|458708|458794|458795|458797|459186|459188|459191|459195|459201|487352|489170|490119|490954|492758|495243|502091|502095|502097|513585|523860|523861|523863|523864|523868|523884|523885|523887|524095|524142|524146|524160|524161|524162|524166|524167|524169|524432|524436|524470|524472|524475|524484|524485|524487|544613|544615|544616|544630|544633|544635|544636|544638|544639|544641|544650|544652|544655|544666|544668|544670|544672|544941|544942|544945|544962|544963|544965|544967|544968|544970|544972|544975|544986|544991|545056|545058|545061|545063|545069|545071|545073|545077|545079|545080|545091|545098|545100|545103|545104|545106|545171|545173|545175|545178|545180|545182|545204|562651|562653|562659|562664|562668|562670|562676|562678|563287|563288|563291|563292|563294|563324|563328|563332|563346|563351|565370|565376|565377|565385|565391|565397|568300|568348|568350|568351|568360|568374|568378|568379|637573|637574|637575|637576|637577|637578|637579|637580|637581|637582|637584|637586|637588|637589|637590|637592|637593|637595|637596|637599|651806|651866|651868|651890|655880|684032|684033|684034|684035|684036|685247|687333|687336|687338|687342|687344|687345|689929|692550|692552|692558|695406|711686|766978|766982|766987|775448|783215|783216|799560|805089|816430|835317|835320|835321|835324|835329|835333|835334|835340|835341|835343|835345|835347|835349|835351|851217|851219|900802|900803|900804|900805|900806|900807|900808|900809|900810|900811|900812|900813|900814|900815|900816|900817|900818|900819|900820|900821|900822|900823|900824|900825|900826|900827|900828|900829|900830|900831|900832|900833|900834|900835|900836|900837|900838|900839|903289|903290|903291|903292|903293|903294|940919|955623|955625|955628|955629|955634|955635|955640|960668|978509|978510|978511|978512|978513|978514|978516|978517|978518|978519|978520|978521|978522|978523|978524|978525|978526|978527|978528|978529|978530|978531|978532|978533|978534|978535|978536|978537|978538|978539|978540|978541|978542|978543|978544|978545|978546|978547|978548|978549|978550|978551|978552|978553|978554|978555|978556|978557|978558|978559|978560", "text": "Familial dysautonomia" }, { - "baseId": "21127|21128|614126", + "upstreamId": "21127|21128|614126", "text": "Neonatal ichthyosis-sclerosing cholangitis syndrome" }, { - "baseId": "21129|21130|21131|75587", + "upstreamId": "21129|21130|21131|75587", "text": "Hypoparathyroidism, familial isolated, 2" }, { - "baseId": "21132|21133|21134|21135|21137|21138|39337|39338|76401|76408|76409|76413|76414|190475|250739|268297|490057|518243|536075|536076|558472|560641|576694|630033|686213|695146|733495|826512|977193", + "upstreamId": "21132|21133|21134|21135|21137|21138|39337|39338|76401|76408|76409|76413|76414|190475|250739|268297|490057|518243|536075|536076|558472|560641|576694|630033|686213|695146|733495|826512|977193", "text": "Holoprosencephaly 2" }, { - "baseId": "21139", + "upstreamId": "21139", "text": "Bile acid synthesis defect, congenital, 3" }, { - "baseId": "21139|21140|21141|21142|21143|21144|21145|21146|40115|125786|125787|190457|221766|221767|227324|273222|305741|305751|305753|305756|305759|305760|309750|309761|309762|309764|314990|314991|315005|315008|315110|315111|315121|315131|431012|431013|492205|493946|513541|513599|578471|789123|789131|798602|899938|899939|899940|899941|899942|899943|899944|899945|899947|899948|899949", + "upstreamId": "21139|21140|21141|21142|21143|21144|21145|21146|40115|125786|125787|190457|221766|221767|227324|273222|305741|305751|305753|305756|305759|305760|309750|309761|309762|309764|314990|314991|315005|315008|315110|315111|315121|315131|431012|431013|492205|493946|513541|513599|578471|789123|789131|798602|899938|899939|899940|899941|899942|899943|899944|899945|899947|899948|899949", "text": "Hereditary spastic paraplegia 5A" }, { - "baseId": "21147|21148|21149|21150|21151|21152|21153|21154|21155|215317|297808|297813|299985|299988|299991|299992|304190|304201|304202|304203|304210|304214|304215|304523|304529|486372|578434|578435|795708|802158|858725|894476|894478|894479|894480|894481|894482|894483|894484|894485|894486|894487|894488|894489|894490|894491|894492|894493|894494|894495|894496|894497|894498|894499|894500|894501|894502|894503|894504|894505|894506|894507|894508|894509|894510|894511|894512|894513|894514|918971", + "upstreamId": "21147|21148|21149|21150|21151|21152|21153|21154|21155|215317|297808|297813|299985|299988|299991|299992|304190|304201|304202|304203|304210|304214|304215|304523|304529|486372|578434|578435|795708|802158|858725|894476|894478|894479|894480|894481|894482|894483|894484|894485|894486|894487|894488|894489|894490|894491|894492|894493|894494|894495|894496|894497|894498|894499|894500|894501|894502|894503|894504|894505|894506|894507|894508|894509|894510|894511|894512|894513|894514|918971", "text": "Molybdenum cofactor deficiency, complementation group B" }, { - "baseId": "21149|297736|297741|297765|297766|297767|297776|297779|297781|297798|297807|297809|299941|299950|299962|299970|299972|299986|300053|300054|300057|300059|300071|300076|302731|302743|302752|302760|302776|304133|304169|304176|304191|304201|304202|304203|304442|304451|304490|304493|304526|307121|307397|307412|307413|307425", + "upstreamId": "21149|297736|297741|297765|297766|297767|297776|297779|297781|297798|297807|297809|299941|299950|299962|299970|299972|299986|300053|300054|300057|300059|300071|300076|302731|302743|302752|302760|302776|304133|304169|304176|304191|304201|304202|304203|304442|304451|304490|304493|304526|307121|307397|307412|307413|307425", "text": "Combined molybdoflavoprotein enzyme deficiency" }, { - "baseId": "21152|21156|21157|21158|21159|21160|205013|205014|300050|300051|300056|300060|300061|300078|300086|300087|300088|300089|300094|300101|300107|300110|302722|302724|302725|302747|302748|302753|302754|302761|302764|302766|302773|302775|302777|302784|302786|302788|302799|302811|302818|302819|302837|302841|307063|307065|307068|307070|307075|307076|307079|307140|307143|307144|307154|307156|307159|307161|307162|307164|307165|307172|307173|307181|307218|307219|307220|307224|307225|307403|307404|307423|307426|307436|307437|307439|307450|307454|361592|464000|464445|521668|522060|522377|560732|581754|620787|634928|634929|634930|679750|679826|790626|795856|831935|831936|831937|895922|895923|895924|895925|895926|895927|895928|895929|895930|895931|895932|895933|895934|895935|895936|895937|895938|895939|895940|895941|895942|895943|895944|895945|895946|895947|895948|895949|895950|895951|895952|895953|895954|895955|895956|895957|895958|895959|895960|895961|895962|895963|895964|896240|896241|896242|933325|945022|954450|961773", + "upstreamId": "21152|21156|21157|21158|21159|21160|205013|205014|300050|300051|300056|300060|300061|300078|300086|300087|300088|300089|300094|300101|300107|300110|302722|302724|302725|302747|302748|302753|302754|302761|302764|302766|302773|302775|302777|302784|302786|302788|302799|302811|302818|302819|302837|302841|307063|307065|307068|307070|307075|307076|307079|307140|307143|307144|307154|307156|307159|307161|307162|307164|307165|307172|307173|307181|307218|307219|307220|307224|307225|307403|307404|307423|307426|307436|307437|307439|307450|307454|361592|464000|464445|521668|522060|522377|560732|581754|620787|634928|634929|634930|679750|679826|790626|795856|831935|831936|831937|895922|895923|895924|895925|895926|895927|895928|895929|895930|895931|895932|895933|895934|895935|895936|895937|895938|895939|895940|895941|895942|895943|895944|895945|895946|895947|895948|895949|895950|895951|895952|895953|895954|895955|895956|895957|895958|895959|895960|895961|895962|895963|895964|896240|896241|896242|933325|945022|954450|961773", "text": "Molybdenum cofactor deficiency, complementation group A" }, { - "baseId": "21161|21162|21163|21164|21165|94535|185740|185741|207984|318055|318056|325969|325970|332221|332224|333699|333700|333713|333717|333734|462342|641282|681809|870190|870191|870192|870193|870194|872271|872272|872273|917740|936194|936195|941035", + "upstreamId": "21161|21162|21163|21164|21165|94535|185740|185741|207984|318055|318056|325969|325970|332221|332224|333699|333700|333713|333717|333734|462342|641282|681809|870190|870191|870192|870193|870194|872271|872272|872273|917740|936194|936195|941035", "text": "Diamond-Blackfan anemia 10" }, { - "baseId": "21166|21167|21788|22607|22659|22663|24047|24048|24049|24050|24073|39054|39058|39059|39164|39166|48117|53089|53503|176733|223686|223689|232102|264298|354279|410730|457788|481486|510873|513664|513957|513958|532147|532159|533475|551706|578648|578649|581235|581236|581838|581843|590018|590155|590156|590157|613938|613973|614485|615875|834064|919129|919130|919902|919903|919904|919905|961635|965931|970535|980490|983678|983682", + "upstreamId": "21166|21167|21788|22607|22659|22663|24047|24048|24049|24050|24073|39054|39058|39059|39164|39166|48117|53089|53503|176733|223686|223689|232102|264298|354279|410730|457788|481486|510873|513664|513957|513958|532147|532159|533475|551706|578648|578649|581235|581236|581838|581843|590018|590155|590156|590157|613938|613973|614485|615875|834064|919129|919130|919902|919903|919904|919905|961635|965931|970535|980490|983678|983682", "text": "Tetralogy of Fallot" }, { - "baseId": "21166|21167|21169|48117|166432|166433|240219|240220|240221|252999|253002|253005|253006|395860|396119|396122|396256|396543|396544|457735|457742|457744|457765|457768|522965|523199|523204|523206|523429|523548|523568|523569|523580|551706|561886|567325|636533|636534|636535|636536|636537|636538|636539|683961|683962|683964|683965|687158|834032|834033|924979|934062|945821|945822|955273", + "upstreamId": "21166|21167|21169|48117|166432|166433|240219|240220|240221|252999|253002|253005|253006|395860|396119|396122|396256|396543|396544|457735|457742|457744|457765|457768|522965|523199|523204|523206|523429|523548|523568|523569|523580|551706|561886|567325|636533|636534|636535|636536|636537|636538|636539|683961|683962|683964|683965|687158|834032|834033|924979|934062|945821|945822|955273", "text": "46,XY sex reversal 9" }, { - "baseId": "21167|21169|21787|48116|48118|394846|513907", + "upstreamId": "21167|21169|21787|48116|48118|394846|513907", "text": "Double outlet right ventricle" }, { - "baseId": "21167|21168|21169|21170|621896|621897|970870|975859|975860", + "upstreamId": "21167|21168|21169|21170|621896|621897|970870|975859|975860", "text": "Diaphragmatic hernia 3" }, { - "baseId": "21167|21169|27833|27835|27836|27837|27838|27839|27840|27841|27842|27843|27844|27845|27846|39055|39058|48117|142240|213584|213585|240219|252999|253284|260482|359757|359757|396274|428907|428910|458740|502861|523825|562690|562691|637644|637645|637646|653876|687353|692569|788832|794210|794211|794212|794213|794214|794215|820046|835434|835435|934528|940126|946339|946340", + "upstreamId": "21167|21169|27833|27835|27836|27837|27838|27839|27840|27841|27842|27843|27844|27845|27846|39055|39058|48117|142240|213584|213585|240219|252999|253284|260482|359757|359757|396274|428907|428910|458740|502861|523825|562690|562691|637644|637645|637646|653876|687353|692569|788832|794210|794211|794212|794213|794214|794215|820046|835434|835435|934528|940126|946339|946340", "text": "46,XY sex reversal, type 3" }, { - "baseId": "21171|293065|406132", + "upstreamId": "21171|293065|406132", "text": "Spastic paraplegia 42, autosomal dominant" }, { - "baseId": "21172|21173|21174|21175|21176|21177|21179|21181|21182|34675|34676|34677|34678|34679|34680|34681|34682|34683|34684|34685|34686|34687|34688|34689|34690|34691|34692|34693|34695|34696|34697|34698|34699|34700|34701|34703|34704|34705|34706|34707|34708|34709|34710|34711|34712|34714|34715|34716|48674|57327|57329|57330|57331|57332|57333|57335|57338|57340|57342|57344|57345|57346|57350|57358|57359|57362|57363|57364|57365|57367|57369|57370|57371|57372|57373|57376|57383|57387|57389|57393|57394|57397|57398|57399|57400|57403|57404|57406|57410|57411|57412|57413|57414|57415|57417|57420|57421|57422|57423|57425|57426|57433|57437|57438|57439|57442|76681|76682|76683|76684|76685|76686|76687|76688|76689|76690|76691|76692|76693|76694|76695|76696|76697|76698|76699|76700|76701|76702|76704|76705|76706|76707|76708|76709|76710|76711|76712|76713|76714|76715|76716|76717|76718|76719|76720|76721|76722|76723|76724|137046|137047|173497|173500|173501|173502|173507|173513|173514|173515|173518|173524|173638|173641|173648|173649|173657|199783|204282|208369|228939|228946|228948|228953|228956|250703|250708|271841|273157|285699|285703|285714|285716|285720|285722|285723|285725|285736|285738|285746|285748|286394|286396|286397|286398|286400|286405|286406|286407|286417|286418|286419|286424|286425|286449|286453|286456|286457|286461|288721|288726|288727|288728|288734|288735|288737|288744|288754|288756|288760|289142|289143|289146|289148|289151|289153|289154|289158|289166|289168|289169|389219|389220|404759|439895|439896|439897|439898|496272|496274|496757|539468|553251|553252|553253|615786|615787|619934|620079|620080|620081|620745|620746|622323|622684|622685|622686|622687|622699|654264|795211|799295|884491|884492|884493|884494|884495|884496|884497|884498|884499|884500|884501|884502|884503|884504|884505|884506|884507|884508|884509|884510|884511|884512|884513|884514|884515|884516|884517|884518|884519|884520|884521|884522|884523|884524|884525|884526|884527|884528|884529|884530|884531|884532|884533|884534|884535|887339|887340|887341|887342|887343|904241|966050|969147|971293", + "upstreamId": "21172|21173|21174|21175|21176|21177|21179|21181|21182|34675|34676|34677|34678|34679|34680|34681|34682|34683|34684|34685|34686|34687|34688|34689|34690|34691|34692|34693|34695|34696|34697|34698|34699|34700|34701|34703|34704|34705|34706|34707|34708|34709|34710|34711|34712|34714|34715|34716|48674|57327|57329|57330|57331|57332|57333|57335|57338|57340|57342|57344|57345|57346|57350|57358|57359|57362|57363|57364|57365|57367|57369|57370|57371|57372|57373|57376|57383|57387|57389|57393|57394|57397|57398|57399|57400|57403|57404|57406|57410|57411|57412|57413|57414|57415|57417|57420|57421|57422|57423|57425|57426|57433|57437|57438|57439|57442|76681|76682|76683|76684|76685|76686|76687|76688|76689|76690|76691|76692|76693|76694|76695|76696|76697|76698|76699|76700|76701|76702|76704|76705|76706|76707|76708|76709|76710|76711|76712|76713|76714|76715|76716|76717|76718|76719|76720|76721|76722|76723|76724|137046|137047|173497|173500|173501|173502|173507|173513|173514|173515|173518|173524|173638|173641|173648|173649|173657|199783|204282|208369|228939|228946|228948|228953|228956|250703|250708|271841|273157|285699|285703|285714|285716|285720|285722|285723|285725|285736|285738|285746|285748|286394|286396|286397|286398|286400|286405|286406|286407|286417|286418|286419|286424|286425|286449|286453|286456|286457|286461|288721|288726|288727|288728|288734|288735|288737|288744|288754|288756|288760|289142|289143|289146|289148|289151|289153|289154|289158|289166|289168|289169|389219|389220|404759|439895|439896|439897|439898|496272|496274|496757|539468|553251|553252|553253|615786|615787|619934|620079|620080|620081|620745|620746|622323|622684|622685|622686|622687|622699|654264|795211|799295|884491|884492|884493|884494|884495|884496|884497|884498|884499|884500|884501|884502|884503|884504|884505|884506|884507|884508|884509|884510|884511|884512|884513|884514|884515|884516|884517|884518|884519|884520|884521|884522|884523|884524|884525|884526|884527|884528|884529|884530|884531|884532|884533|884534|884535|887339|887340|887341|887342|887343|904241|966050|969147|971293", "text": "Deafness, autosomal recessive 9" }, { - "baseId": "21175|21178|21179|21180|21181|21182", + "upstreamId": "21175|21178|21179|21180|21181|21182", "text": "Auditory neuropathy, autosomal recessive, 1" }, { - "baseId": "21185|23156|23157|23258|23259|31035|31036|31037", + "upstreamId": "21185|23156|23157|23258|23259|31035|31036|31037", "text": "Basal cell carcinoma, somatic" }, { - "baseId": "21187|247548|282900|283688|285208|481465|537369|576093|614233|792724|801574|905863|920164|970723", + "upstreamId": "21187|247548|282900|283688|285208|481465|537369|576093|614233|792724|801574|905863|920164|970723", "text": "Hypomyelination, global cerebral" }, { - "baseId": "21189|286931|286933|289232|289241|289242|289244|289245|289246|289604|289605|289620|289621|289622|359098|451004|451007|518219|518264|558458|560631|626128|679895|685132|686207|686209|826465|884812|931402|942916|942917|964120", + "upstreamId": "21189|286931|286933|289232|289241|289242|289244|289245|289246|289604|289605|289620|289621|289622|359098|451004|451007|518219|518264|558458|560631|626128|679895|685132|686207|686209|826465|884812|931402|942916|942917|964120", "text": "Diamond-Blackfan anemia 8" }, { - "baseId": "21190|21191|21192|21193|21194|21195|237728|253971|253973|253974|253975|253976|253977|253978|253979|253981|260794|260795|312027|312032|312038|312039|312043|312044|317683|317684|317699|317703|317707|317708|317711|317712|317713|323645|323647|323649|323650|323651|323656|323658|323671|323674|323686|323688|323689|323697|323698|323714|323723|323727|324394|324397|324405|324418|324425|324426|324434|324436|324438|324439|324440|324441|324443|324444|324446|324448|513087|513088|590300|620375|620828|623305|623306|752382|793376|818286|818287|818288|866769|866770|866771|866772|866773|866774|866775|866776|866777|866778|866779|866780|866781|866782|866783|866784|866785|866786|866787|866788|866789|866790|866791|866792|866793|866794|866795|868578|961006|962729|962730|964350|970926", + "upstreamId": "21190|21191|21192|21193|21194|21195|237728|253971|253973|253974|253975|253976|253977|253978|253979|253981|260794|260795|312027|312032|312038|312039|312043|312044|317683|317684|317699|317703|317707|317708|317711|317712|317713|323645|323647|323649|323650|323651|323656|323658|323671|323674|323686|323688|323689|323697|323698|323714|323723|323727|324394|324397|324405|324418|324425|324426|324434|324436|324438|324439|324440|324441|324443|324444|324446|324448|513087|513088|590300|620375|620828|623305|623306|752382|793376|818286|818287|818288|866769|866770|866771|866772|866773|866774|866775|866776|866777|866778|866779|866780|866781|866782|866783|866784|866785|866786|866787|866788|866789|866790|866791|866792|866793|866794|866795|868578|961006|962729|962730|964350|970926", "text": "Focal segmental glomerulosclerosis 2" }, { - "baseId": "21196|21197|21198|21199|21200|21201|391635|427940|516815|551524|551525|557725|622864|800350|800686", + "upstreamId": "21196|21197|21198|21199|21200|21201|391635|427940|516815|551524|551525|557725|622864|800350|800686", "text": "Bardet-Biedl syndrome 5" }, { - "baseId": "21202|21203|21204|21205|21206|21206|21207|21208|21208|21210|21212|21213|27338|140205|140206|140208|141471|141472|141473|141474|210767|210768|210770|210771|210777|266146|274559|284709|285379|285380|285385|287612|287613|287614|287849|287850|300864|300951|327316|327321|327328|327356|327357|327360|337177|337178|337181|337185|337187|343381|343392|343401|344971|344972|344976|345010|345013|345016|361172|366412|366991|541853|613536|654243|883749|883750", + "upstreamId": "21202|21203|21204|21205|21206|21206|21207|21208|21208|21210|21212|21213|27338|140205|140206|140208|141471|141472|141473|141474|210767|210768|210770|210771|210777|266146|274559|284709|285379|285380|285385|287612|287613|287614|287849|287850|300864|300951|327316|327321|327328|327356|327357|327360|337177|337178|337181|337185|337187|343381|343392|343401|344971|344972|344976|345010|345013|345016|361172|366412|366991|541853|613536|654243|883749|883750", "text": "Mitochondrial complex III deficiency, nuclear type 1" }, { - "baseId": "21203|21206|21206|21208|21208|21210|21213|71050|71051|71052|71053|140205|140206|140208|210767|210768|210769|210770|210777|210779|259729|274559|284709|285379|285380|285385|287612|287613|287614|287849|287850|357236|357237|357238|357239|357240|357241|357242|357243|357244|357245|366412|366991|541728|541730|541731|541744|541746|541759|541798|541800|541803|541805|541815|541817|541823|541827|541853|541857|541888|541892|541894|541896|541899|541900|541905|541910|654241|654243|658809|747291|762924|762925|762927|781173|790196|883749|883750", + "upstreamId": "21203|21206|21206|21208|21208|21210|21213|71050|71051|71052|71053|140205|140206|140208|210767|210768|210769|210770|210777|210779|259729|274559|284709|285379|285380|285385|287612|287613|287614|287849|287850|357236|357237|357238|357239|357240|357241|357242|357243|357244|357245|366412|366991|541728|541730|541731|541744|541746|541759|541798|541800|541803|541805|541815|541817|541823|541827|541853|541857|541888|541892|541894|541896|541899|541900|541905|541910|654241|654243|658809|747291|762924|762925|762927|781173|790196|883749|883750", "text": "GRACILE syndrome" }, { - "baseId": "21206|21208|21209|132021|210779", + "upstreamId": "21206|21208|21209|132021|210779", "text": "Pili torti-deafness syndrome" }, { - "baseId": "21208|71051|210777|210779|620061", + "upstreamId": "21208|71051|210777|210779|620061", "text": "BCS1L-Related Disorders" }, { - "baseId": "21210|21211", + "upstreamId": "21210|21211", "text": "Bjornstad syndrome with mild mitochondrial complex III deficiency" }, { - "baseId": "21214|48742|140717|140719|264384|487425|513311", + "upstreamId": "21214|48742|140717|140719|264384|487425|513311", "text": "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2" }, { - "baseId": "21216|21217|125785", + "upstreamId": "21216|21217|125785", "text": "Mitochondrial complex 4 deficiency, nuclear type 4" }, { - "baseId": "21218|21219|21221|21222|21223|106510|106511|238349|238350|238353|265986|281306|281307|281320|281324|281325|281966|281967|281969|283216|283217|283219|283234|283237|283239|283370|283372|283373|283377|391435|513510|626114|628282|679736|818405|864833|864834|864835|864836|864837|865212|865213|865214|865215|918522|969293|974937|975944", + "upstreamId": "21218|21219|21221|21222|21223|106510|106511|238349|238350|238353|265986|281306|281307|281320|281324|281325|281966|281967|281969|283216|283217|283219|283234|283237|283239|283370|283372|283373|283377|391435|513510|626114|628282|679736|818405|864833|864834|864835|864836|864837|865212|865213|865214|865215|918522|969293|974937|975944", "text": "Diamond-Blackfan anemia 6" }, { - "baseId": "21224|21225|21226|227297|239901|299909|299910|299911|299915|302548|302549|302550|302556|306937|306938|306946|307216|895848|895849|895850|895851|895852", + "upstreamId": "21224|21225|21226|227297|239901|299909|299910|299911|299915|302548|302549|302550|302556|306937|306938|306946|307216|895848|895849|895850|895851|895852", "text": "Diamond-Blackfan anemia 9" }, { - "baseId": "21227|21228|21229|185755|212086|212087|212088|221093|221094|244151|268997|273693|280370|280374|280375|280382|280383|280384|280396|280735|280738|280739|280744|280748|280749|280750|282094|282100|282105|282106|282125|282128|282156|282157|282158|282161|282189|282190|282191|282195|282197|282198|282208|282217|282218|282224|282226|282240|282241|282243|282244|282257|282266|365222|365229|390748|391317|442823|447785|447798|447801|447809|447974|447983|448083|448086|448106|448111|448115|515790|515796|515797|515811|515815|515819|515828|515832|515846|515904|556486|557025|557027|557029|557254|557295|557297|557299|557301|558477|558479|558481|609425|627755|627756|627757|627758|627759|627760|627761|627762|627763|627764|627765|627766|650745|685704|685705|685706|685707|685709|690583|695046|780672|818963|818964|823881|823882|823883|823884|823885|823886|823887|823888|823889|823890|823891|823892|823893|864298|864299|864300|864301|864302|864303|864304|864305|864306|864307|864308|864309|921989|921990|921991|921992|921993|921994|930466|930467|930468|930469|930470|930471|941915|941916|941917|952389|952390|952391|960429|970686", + "upstreamId": "21227|21228|21229|185755|212086|212087|212088|221093|221094|244151|268997|273693|280370|280374|280375|280382|280383|280384|280396|280735|280738|280739|280744|280748|280749|280750|282094|282100|282105|282106|282125|282128|282156|282157|282158|282161|282189|282190|282191|282195|282197|282198|282208|282217|282218|282224|282226|282240|282241|282243|282244|282257|282266|365222|365229|390748|391317|442823|447785|447798|447801|447809|447974|447983|448083|448086|448106|448111|448115|515790|515796|515797|515811|515815|515819|515828|515832|515846|515904|556486|557025|557027|557029|557254|557295|557297|557299|557301|558477|558479|558481|609425|627755|627756|627757|627758|627759|627760|627761|627762|627763|627764|627765|627766|650745|685704|685705|685706|685707|685709|690583|695046|780672|818963|818964|823881|823882|823883|823884|823885|823886|823887|823888|823889|823890|823891|823892|823893|864298|864299|864300|864301|864302|864303|864304|864305|864306|864307|864308|864309|921989|921990|921991|921992|921993|921994|930466|930467|930468|930469|930470|930471|941915|941916|941917|952389|952390|952391|960429|970686", "text": "Charcot-Marie-Tooth disease, dominant intermediate C" }, { - "baseId": "21232|24368|50242|137477|223027|223028|223029|223030|223031|223032|223033|223034|223035|223036|223037|223038|223039|223040|223041|223042|223043|223044|223045|223046|223047|223048|223049|223050|223051|223052|223053|223054|223055|223056|223057|223058|223059|223060|223061|223062|223063|223064|223065|223066|223067|223068|223069|223070|223071|223072|223073|223074|223075|223076|223077|223078|223079|223080|223081|223082|223083|223084|223085|223086|223087|223088|223089|223090|223091|223092|223093|223094|223095|223096|223097|223098|223099|223100|223101|223102|223103|223104|223105|223106|223107|223108|223109|223110|223111|223112|223113|223114|223115|223116|223117|223118|223119|223120|223121|223122|223123|223124|223125|223126|223127|223128|223129|223130|223131|223132|223133|223134|223135|223136|223137|223138|223139|223140|223141|223142|223143|223144|223145|223146|223147|223148|223149|223150|223151|223152|223153|223154|223155|223156|223157|223158|223159|223160|223161|223162|223163|223164|223165|223166|223167|223168|223169|223170|223171|223172|223173|223174|223175|223176|223177|223178|223179|223180|223181|223182|223183|223184|223185|223186|223187|223188|223189|223190|223191|223192|223193|223194|223195|223196|223197|223198|223199|223200|223201|223202|223203|223204|223205|223206|223207|223208|223209|223210|223211|223212|223213|223214|223215|223216|223217|223218|223219|223220|223221|223222|223223|223224|223225|223226|223227|223228|223229|223230|223231|223232|223233|223234|223235|223236|223237|223238|223239|223240|223241|223242|223243|223244|223245|223246|223247|223248|223249|223250|223251|223252|223253|223254|223255|223256|223257|223258|223259|223260|223261|223262|223263|223264|223265|223266|223267|223268|223269|223270|223271|223272|223273|223274|223275|223276|223277|223278|223279|223280", + "upstreamId": "21232|24368|50242|137477|223027|223028|223029|223030|223031|223032|223033|223034|223035|223036|223037|223038|223039|223040|223041|223042|223043|223044|223045|223046|223047|223048|223049|223050|223051|223052|223053|223054|223055|223056|223057|223058|223059|223060|223061|223062|223063|223064|223065|223066|223067|223068|223069|223070|223071|223072|223073|223074|223075|223076|223077|223078|223079|223080|223081|223082|223083|223084|223085|223086|223087|223088|223089|223090|223091|223092|223093|223094|223095|223096|223097|223098|223099|223100|223101|223102|223103|223104|223105|223106|223107|223108|223109|223110|223111|223112|223113|223114|223115|223116|223117|223118|223119|223120|223121|223122|223123|223124|223125|223126|223127|223128|223129|223130|223131|223132|223133|223134|223135|223136|223137|223138|223139|223140|223141|223142|223143|223144|223145|223146|223147|223148|223149|223150|223151|223152|223153|223154|223155|223156|223157|223158|223159|223160|223161|223162|223163|223164|223165|223166|223167|223168|223169|223170|223171|223172|223173|223174|223175|223176|223177|223178|223179|223180|223181|223182|223183|223184|223185|223186|223187|223188|223189|223190|223191|223192|223193|223194|223195|223196|223197|223198|223199|223200|223201|223202|223203|223204|223205|223206|223207|223208|223209|223210|223211|223212|223213|223214|223215|223216|223217|223218|223219|223220|223221|223222|223223|223224|223225|223226|223227|223228|223229|223230|223231|223232|223233|223234|223235|223236|223237|223238|223239|223240|223241|223242|223243|223244|223245|223246|223247|223248|223249|223250|223251|223252|223253|223254|223255|223256|223257|223258|223259|223260|223261|223262|223263|223264|223265|223266|223267|223268|223269|223270|223271|223272|223273|223274|223275|223276|223277|223278|223279|223280", "text": "Ductal breast carcinoma" }, { - "baseId": 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"text": "Squamous cell carcinoma of the head and neck" }, { - "baseId": "21234|21234|21236|21237|21240|21241|21241|21242|21243|39326|39327|169763|169767|169769|169774|169779|169787|169787|169794|169799|169802|169804|169805|169814|169816|169817|169818|169820|198645|208792|236944|260264|260265|338121|347754|347766|351608|352554|352555|352558|352560|352560|361274|389185|413616|415714|415714|420984|431022|431023|431023|438229|471123|471124|471581|471583|486308|486308|495587|513385|513669|513670|534798|534799|534807|538500|552230|552231|552267|571997|574136|575208|575509|577909|613193|622482|622483|622926|649497|649498|649499|649500|653620|653722|679833|689290|694739|694740|695877|695878|705931|758088|760983|773550|778653|786601|789132|792063|792064|792065|792066|792067|792068|792069|798770|801743|801744|821460|849340|849341|849342|849343|849344|849345|849346|904227|939315|939316|939317|951474", + "upstreamId": 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"21234|21237|21240|39327|169761|169764|169765|169766|169767|169768|169769|169770|169772|169774|169775|169776|169777|169778|169779|169780|169781|169783|169784|169785|169786|169787|169788|169789|169790|169791|169792|169793|169794|169795|169796|169797|169798|169799|169801|169803|169804|169807|169808|169809|169810|169811|169812|169813|169814|169815|169816|169819|169821|677270|677271|801085", + "upstreamId": "21234|21237|21240|39327|169761|169764|169765|169766|169767|169768|169769|169770|169772|169774|169775|169776|169777|169778|169779|169780|169781|169783|169784|169785|169786|169787|169788|169789|169790|169791|169792|169793|169794|169795|169796|169797|169798|169799|169801|169803|169804|169807|169808|169809|169810|169811|169812|169813|169814|169815|169816|169819|169821|677270|677271|801085", "text": "Iron accumulation in brain" }, { - "baseId": "21234|21235|21237|21240|21241|21241|21242|21243|169766|169780|169787|169796|208794|208795|236944|347766|352560|415714|430564|430565|431023|486308|612360|961898|962186|972802", + "upstreamId": "21234|21235|21237|21240|21241|21241|21242|21243|169766|169780|169787|169796|208794|208795|236944|347766|352560|415714|430564|430565|431023|486308|612360|961898|962186|972802", "text": "Neurodegeneration with brain iron accumulation 2b" }, { - "baseId": "21234|21241|21242|21243|21243|39323|39324|39325|39328|169787|236944|347766|352560|415714|431023|486308", + "upstreamId": "21234|21241|21242|21243|21243|39323|39324|39325|39328|169787|236944|347766|352560|415714|431023|486308", "text": "Parkinson disease 14" }, { - "baseId": "21234|39323|169763|169767|169768|169774|169776|169779|169782|169783|169787|169800|169802|169805|169806|169818|208792|236944|338113|338122|347750|347751|347753|347754|347755|347756|347758|347759|347766|347767|347770|351604|351607|351608|351610|352549|352550|352551|352552|352553|352554|352555|352556|352557|352558|352559|352560|352561|361345|415714|471583|486308|513670|577909|694738|694739|695877|849343|849345|891296|891297|891298|891299|891300|891301|891302|891303|891304|891305|891306|891307|891308|891309|891833|891834|891835|891836|891837|918470", + "upstreamId": "21234|39323|169763|169767|169768|169774|169776|169779|169782|169783|169787|169800|169802|169805|169806|169818|208792|236944|338113|338122|347750|347751|347753|347754|347755|347756|347758|347759|347766|347767|347770|351604|351607|351608|351610|352549|352550|352551|352552|352553|352554|352555|352556|352557|352558|352559|352560|352561|361345|415714|471583|486308|513670|577909|694738|694739|695877|849343|849345|891296|891297|891298|891299|891300|891301|891302|891303|891304|891305|891306|891307|891308|891309|891833|891834|891835|891836|891837|918470", "text": "PLA2G6-associated neurodegeneration" }, { - "baseId": 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"text": "Autistic disorder of childhood onset" }, { - "baseId": "21235|22501|22745|22745|24680|27809|34374|79331|181454|196365|207896|210585|213566|263234|263305|267991|268805|274788|299476|299490|301862|301890|301973|306312|306339|306415|306416|306417|306601|306602|359794|360812|360878|360906|360925|361043|361060|361062|362161|362161|384443|441283|461088|513942|514104|514152|514158|551427|551795|610516|613540|676964|677220|678943|678959|681597|681600|794276|800406|800407|800412|800956|800984|801165|801165|921254|921257|921260|962130|963089|963090", + "upstreamId": "21235|22501|22745|22745|24680|27809|34374|79331|181454|196365|207896|210585|213566|263234|263305|267991|268805|274788|299476|299490|301862|301890|301973|306312|306339|306415|306416|306417|306601|306602|359794|360812|360878|360906|360925|361043|361060|361062|362161|362161|384443|441283|461088|513942|514104|514152|514158|551427|551795|610516|613540|676964|677220|678943|678959|681597|681600|794276|800406|800407|800412|800956|800984|801165|801165|921254|921257|921260|962130|963089|963090", "text": "Cerebellar ataxia" }, { - "baseId": "21235|26867|153385|197521|358027|362152|513980|513981|514155|514159|514160|550330|590049|792692|801518|801519|806406|858765|858766|918497", + "upstreamId": "21235|26867|153385|197521|358027|362152|513980|513981|514155|514159|514160|550330|590049|792692|801518|801519|806406|858765|858766|918497", "text": "Developmental regression" }, { - "baseId": "21238", + "upstreamId": "21238", "text": "Karak syndrome" }, { - "baseId": 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+ "upstreamId": 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"text": "Lysinuric protein intolerance" }, { - "baseId": "21255|21256|21261|39322|101059|101064|101064|101066|101067|101069|101070|101071|101072|101073|101074|101075|101076|141778|169756|169757|169758|169759|169759|169760|172277|177170|177815|177816|190839|191678|191680|194401|194402|194403|208788|208789|257611|267775|271995|273963|337960|337964|337975|337976|337978|337984|337991|337994|347602|347611|347612|347614|347620|347621|347628|347630|347632|347642|347643|351481|351483|351484|351488|351489|351491|351493|351495|351498|351500|351501|351504|351505|351506|351508|351509|352487|352489|352490|352491|352492|352493|352494|352495|352496|378712|378789|379848|379850|415713|426374|470264|470267|470270|471113|471118|471121|471552|471555|471564|471568|471572|471951|471952|471961|471962|471965|508400|508407|534269|534280|534282|534408|534412|534419|534421|534424|534431|534777|571978|571986|571987|573232|573399|573399|573403|573404|573909|574124|574126|574128|577906|577907|649460|649461|649462|649463|649464|649465|649466|649467|649468|649469|649470|649471|653603|653698|694719|694720|694724|694727|694728|705904|705905|717416|742867|773533|821395|821459|849304|849305|849306|849307|849308|849309|849310|849311|849312|849313|849314|849315|891178|891179|891180|891181|891182|891183|891184|891185|891186|891187|891188|891189|891190|891191|891192|891193|891194|891195|891196|891197|891198|891199|891200|891821|891822|891823|891824|904221|929482|929483|939303|939304|939305|939306|939307|939308|951463|951464|959089|959090|959091", + "upstreamId": "21255|21256|21261|39322|101059|101064|101064|101066|101067|101069|101070|101071|101072|101073|101074|101075|101076|141778|169756|169757|169758|169759|169759|169760|172277|177170|177815|177816|190839|191678|191680|194401|194402|194403|208788|208789|257611|267775|271995|273963|337960|337964|337975|337976|337978|337984|337991|337994|347602|347611|347612|347614|347620|347621|347628|347630|347632|347642|347643|351481|351483|351484|351488|351489|351491|351493|351495|351498|351500|351501|351504|351505|351506|351508|351509|352487|352489|352490|352491|352492|352493|352494|352495|352496|378712|378789|379848|379850|415713|426374|470264|470267|470270|471113|471118|471121|471552|471555|471564|471568|471572|471951|471952|471961|471962|471965|508400|508407|534269|534280|534282|534408|534412|534419|534421|534424|534431|534777|571978|571986|571987|573232|573399|573399|573403|573404|573909|574124|574126|574128|577906|577907|649460|649461|649462|649463|649464|649465|649466|649467|649468|649469|649470|649471|653603|653698|694719|694720|694724|694727|694728|705904|705905|717416|742867|773533|821395|821459|849304|849305|849306|849307|849308|849309|849310|849311|849312|849313|849314|849315|891178|891179|891180|891181|891182|891183|891184|891185|891186|891187|891188|891189|891190|891191|891192|891193|891194|891195|891196|891197|891198|891199|891200|891821|891822|891823|891824|904221|929482|929483|939303|939304|939305|939306|939307|939308|951463|951464|959089|959090|959091", "text": "Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6" }, { - "baseId": "21257|21258|21259|21260|101059|101064|101064|101066|101067|101069|101070|101071|101072|101073|101074|101075|101076|141778|169756|169758|169759|169759|169760|177815|191680|208789|267775|271995|273963|337960|337964|337975|337976|337978|337984|337991|337994|347602|347611|347612|347614|347620|347621|347628|347630|347632|347642|347643|351481|351483|351484|351488|351489|351491|351493|351495|351498|351500|351501|351504|351505|351506|351508|351509|352487|352489|352490|352491|352492|352493|352494|352495|352496|379850|471568|486618|508400|534424|553159|573399|694727|891178|891179|891180|891181|891182|891183|891184|891185|891186|891187|891188|891189|891190|891191|891192|891193|891194|891195|891196|891197|891198|891199|891200|891821|891822|891823|891824", + "upstreamId": "21257|21258|21259|21260|101059|101064|101064|101066|101067|101069|101070|101071|101072|101073|101074|101075|101076|141778|169756|169758|169759|169759|169760|177815|191680|208789|267775|271995|273963|337960|337964|337975|337976|337978|337984|337991|337994|347602|347611|347612|347614|347620|347621|347628|347630|347632|347642|347643|351481|351483|351484|351488|351489|351491|351493|351495|351498|351500|351501|351504|351505|351506|351508|351509|352487|352489|352490|352491|352492|352493|352494|352495|352496|379850|471568|486618|508400|534424|553159|573399|694727|891178|891179|891180|891181|891182|891183|891184|891185|891186|891187|891188|891189|891190|891191|891192|891193|891194|891195|891196|891197|891198|891199|891200|891821|891822|891823|891824", "text": "Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6" }, { - "baseId": "21262|21263|21264|21265|21266|21267|21268|39319|39320|39321|99965|177017|177280|178106|191019|192647|192749|193179|193504|193506|194903|226533|227365|322135|322143|322146|322148|322154|322155|322159|322162|322164|322167|322174|322176|322180|331421|331424|331431|331432|331443|331453|331462|331469|331476|331479|331482|331484|331491|331492|338321|338325|338328|338332|338352|338353|338359|338361|338364|338367|338368|338369|338374|338384|338386|338389|338394|338403|340130|340131|340136|340140|340141|340142|340145|340146|340147|340153|340155|340156|340159|432312|432313|584920|612158|620506|620507|620508|620864|620865|620866|703109|703111|725987|725988|725989|725990|725991|725992|739534|770069|800364|800372|818309|842107|842117|842119|856805|873155|873156|873157|873158|873159|873160|873161|873162|873163|873164|873165|873166|873167|873168|873169|873170|873171|873172|873173|873174|873175|873176|873177|873178|873179|873180|873181|873182|873183|873184|873185|873186|873187|873188|873189|873190|873191|873192|873193|873194|873195|873196|873197|873198|873199|873200|876483|876484|876485|876486|876487|876488|919564|965742", + "upstreamId": "21262|21263|21264|21265|21266|21267|21268|39319|39320|39321|99965|177017|177280|178106|191019|192647|192749|193179|193504|193506|194903|226533|227365|322135|322143|322146|322148|322154|322155|322159|322162|322164|322167|322174|322176|322180|331421|331424|331431|331432|331443|331453|331462|331469|331476|331479|331482|331484|331491|331492|338321|338325|338328|338332|338352|338353|338359|338361|338364|338367|338368|338369|338374|338384|338386|338389|338394|338403|340130|340131|340136|340140|340141|340142|340145|340146|340147|340153|340155|340156|340159|432312|432313|584920|612158|620506|620507|620508|620864|620865|620866|703109|703111|725987|725988|725989|725990|725991|725992|739534|770069|800364|800372|818309|842107|842117|842119|856805|873155|873156|873157|873158|873159|873160|873161|873162|873163|873164|873165|873166|873167|873168|873169|873170|873171|873172|873173|873174|873175|873176|873177|873178|873179|873180|873181|873182|873183|873184|873185|873186|873187|873188|873189|873190|873191|873192|873193|873194|873195|873196|873197|873198|873199|873200|876483|876484|876485|876486|876487|876488|919564|965742", "text": "Congenital stationary night blindness, type 1C" }, { - "baseId": "21269", + "upstreamId": "21269", "text": "High density lipoprotein cholesterol level quantitative trait locus 8" }, { - "baseId": "21270|21271|21272|21273|21274|141974|141975|191579|231812|231813|244698|254369|254370|315506|315510|315511|315515|315519|315521|315529|315530|315534|315537|315542|315543|315544|315549|315550|315557|315559|315561|315562|315573|315581|322412|322418|322420|322422|328548|328553|328558|328562|328575|328579|328580|328596|328605|328611|329845|329846|329851|329852|329862|329863|372769|398790|398933|461740|462375|526597|540457|612295|672004|672005|672006|672007|788862|792785|868974|868975|868976|868977|868978|868979|868980|868981|868982|868983|868984|868985|868986|868987|868988|962983|980944|981760", + "upstreamId": "21270|21271|21272|21273|21274|141974|141975|191579|231812|231813|244698|254369|254370|315506|315510|315511|315515|315519|315521|315529|315530|315534|315537|315542|315543|315544|315549|315550|315557|315559|315561|315562|315573|315581|322412|322418|322420|322422|328548|328553|328558|328562|328575|328579|328580|328596|328605|328611|329845|329846|329851|329852|329862|329863|372769|398790|398933|461740|462375|526597|540457|612295|672004|672005|672006|672007|788862|792785|868974|868975|868976|868977|868978|868979|868980|868981|868982|868983|868984|868985|868986|868987|868988|962983|980944|981760", "text": "Charcot-Marie-Tooth disease, type 4B1" }, { - "baseId": "21275|21276|21278|21279|44695|53936|53937|53939|53940|174347|174484|174486|174487|174488|189814|189816|205147|229426|237601|239890|299095|299096|299100|299106|299107|299116|299118|299121|299127|299128|299129|299135|299136|299137|299149|301509|301524|301525|301534|301545|301549|301550|301551|301556|305877|305889|305906|305907|305909|305910|305921|306132|306134|306139|306142|306158|306171|306172|306197|306198|612088|691941|831571|895384|895385|895386|895387|895388|895389|895390|895391|895392|895393|895394|895395|895396|895397|895398|895399|895400|895401|895402|895403|895404|895405|895406|895407|895408|895409|895410|895411|895412|895413|895414|895415|895416|895417|895418|895419|896191|896192|905062|970821", + "upstreamId": "21275|21276|21278|21279|44695|53936|53937|53939|53940|174347|174484|174486|174487|174488|189814|189816|205147|229426|237601|239890|299095|299096|299100|299106|299107|299116|299118|299121|299127|299128|299129|299135|299136|299137|299149|301509|301524|301525|301534|301545|301549|301550|301551|301556|305877|305889|305906|305907|305909|305910|305921|306132|306134|306139|306142|306158|306171|306172|306197|306198|612088|691941|831571|895384|895385|895386|895387|895388|895389|895390|895391|895392|895393|895394|895395|895396|895397|895398|895399|895400|895401|895402|895403|895404|895405|895406|895407|895408|895409|895410|895411|895412|895413|895414|895415|895416|895417|895418|895419|896191|896192|905062|970821", "text": "Deafness, autosomal dominant 10" }, { - "baseId": "21277|44695|53936|53937|53938|53939|53940|174347|174482|174484|174486|174487|174488|189808|189809|189812|189814|189815|189816|189817|189818|229421|229426|239887|239888|239889|239890|239892|258434|299095|299096|299100|299106|299107|299116|299118|299121|299127|299128|299129|299135|299136|299137|299149|301509|301524|301525|301534|301545|301549|301550|301551|301556|305877|305889|305906|305907|305909|305910|305921|306132|306134|306139|306142|306158|306171|306172|306197|306198|395062|395207|395219|395222|395414|395683|395684|395685|455283|455286|455296|455383|455389|455756|455962|456140|456142|456148|456150|491559|509796|521437|521438|521440|521443|521725|521770|521774|521779|521784|522024|522027|560465|560467|560469|560600|560602|560604|563392|563393|563396|565435|565441|634621|634622|634623|634624|634625|634626|634627|634628|634629|634630|634631|634632|634633|634634|634635|634636|634637|634638|651590|685191|686802|686804|689812|689813|691941|699329|765503|819663|831562|831563|831564|831565|831566|831567|831568|831569|831570|831571|831572|831573|831574|831575|831576|851314|852243|895384|895385|895386|895387|895388|895389|895390|895391|895392|895393|895394|895395|895396|895397|895398|895399|895400|895401|895402|895403|895404|895405|895406|895407|895408|895409|895410|895411|895412|895413|895414|895415|895416|895417|895418|895419|896191|896192|924260|924261|924262|924263|924264|933181|940840|944888|944889|954372|954373", + "upstreamId": "21277|44695|53936|53937|53938|53939|53940|174347|174482|174484|174486|174487|174488|189808|189809|189812|189814|189815|189816|189817|189818|229421|229426|239887|239888|239889|239890|239892|258434|299095|299096|299100|299106|299107|299116|299118|299121|299127|299128|299129|299135|299136|299137|299149|301509|301524|301525|301534|301545|301549|301550|301551|301556|305877|305889|305906|305907|305909|305910|305921|306132|306134|306139|306142|306158|306171|306172|306197|306198|395062|395207|395219|395222|395414|395683|395684|395685|455283|455286|455296|455383|455389|455756|455962|456140|456142|456148|456150|491559|509796|521437|521438|521440|521443|521725|521770|521774|521779|521784|522024|522027|560465|560467|560469|560600|560602|560604|563392|563393|563396|565435|565441|634621|634622|634623|634624|634625|634626|634627|634628|634629|634630|634631|634632|634633|634634|634635|634636|634637|634638|651590|685191|686802|686804|689812|689813|691941|699329|765503|819663|831562|831563|831564|831565|831566|831567|831568|831569|831570|831571|831572|831573|831574|831575|831576|851314|852243|895384|895385|895386|895387|895388|895389|895390|895391|895392|895393|895394|895395|895396|895397|895398|895399|895400|895401|895402|895403|895404|895405|895406|895407|895408|895409|895410|895411|895412|895413|895414|895415|895416|895417|895418|895419|896191|896192|924260|924261|924262|924263|924264|933181|940840|944888|944889|954372|954373", "text": "Dilated cardiomyopathy 1J" }, { - "baseId": "21280|21281|21282|21283|21284|21285|21286|21287|21288|34275|34276|34277|34278|34279|54268|54271|54272|76796|76801|166117|172446|204593|204594|204595|204596|204597|204598|204599|204600|204601|204602|496165|576062|581958|613748|967260", + "upstreamId": "21280|21281|21282|21283|21284|21285|21286|21287|21288|34275|34276|34277|34278|34279|54268|54271|54272|76796|76801|166117|172446|204593|204594|204595|204596|204597|204598|204599|204600|204601|204602|496165|576062|581958|613748|967260", "text": "Autosomal dominant nonsyndromic deafness 2A" }, { - "baseId": "21289|21290|21291", + "upstreamId": "21289|21290|21291", "text": "Mucosa-associated lymphoma" }, { - "baseId": "21289|21304|21305", + "upstreamId": "21289|21304|21305", "text": "Male germ cell tumor, somatic" }, { - "baseId": "21292|21293|21294|21295|21296|21297", + "upstreamId": "21292|21293|21294|21295|21296|21297", "text": "Follicular lymphoma" }, { - "baseId": "21298|24552|24553|608935", + "upstreamId": "21298|24552|24553|608935", "text": "T-cell acute lymphoblastic leukemia" }, { - "baseId": "21299", + "upstreamId": "21299", "text": "Sezary syndrome" }, { - "baseId": "21306|76959|76960|76961|805099", + "upstreamId": "21306|76959|76960|76961|805099", "text": "Coronary artery disease, autosomal dominant 2" }, { - "baseId": "21307|21308|21309|21310|21311|21312|21313|21314|21315|21316|21317|21318|21331|48770|48771|48772|48773|48774|48775|254285|262637|362379|362380|791165|858277|858278", + "upstreamId": "21307|21308|21309|21310|21311|21312|21313|21314|21315|21316|21317|21318|21331|48770|48771|48772|48773|48774|48775|254285|262637|362379|362380|791165|858277|858278", "text": "Osteoporosis with pseudoglioma" }, { - "baseId": "21319|432371", + "upstreamId": "21319|432371", "text": "High bone mass" }, { - "baseId": "21320|21321|21322|21324|181388", + "upstreamId": "21320|21321|21322|21324|181388", "text": "Autosomal dominant osteopetrosis 1" }, { - "baseId": "21321|21322|21323", + "upstreamId": "21321|21322|21323", "text": "Worth disease" }, { - "baseId": "21321", + "upstreamId": "21321", "text": "Van Buchem disease type 2" }, { - "baseId": "21326|21327|21331", + "upstreamId": "21326|21327|21331", "text": "Exudative vitreoretinopathy 4, autosomal dominant" }, { - "baseId": "21326|195712|226403|226404|226404|226405|226407|237630|304917|304932|304933|309667|315366|315379|315387|315395|315415|315417|322226|328347|328353|329665|431719|431758|431759|434765|800563|800564|800574", + "upstreamId": "21326|195712|226403|226404|226404|226405|226407|237630|304917|304932|304933|309667|315366|315379|315387|315395|315415|315417|322226|328347|328353|329665|431719|431758|431759|434765|800563|800564|800574", "text": "Familial exudative vitreoretinopathy" }, { - "baseId": "21328|21329|21330|21333|21334", + "upstreamId": "21328|21329|21330|21333|21334", "text": "Exudative vitreoretinopathy 4, autosomal recessive" }, { - "baseId": "21332", + "upstreamId": "21332", "text": "Exudative vitreoretinopathy 4, digenic" }, { - "baseId": "21335|21336|21337|100280|106506|106507|106508|106509|237146|257368|335785|345492|345495|350111|351152|351153|351154|351155|351158|378134|422327|469419|469421|469428|470463|470468|471447|471448|471452|533578|533582|533625|533647|571306|571307|572845|572938|573576|573577|575117|575118|648767|648768|648769|648770|648771|648772|648773|648774|648775|653534|695847|780135|850634|850639|850641|850642|850643|850644|850645|850647|886278|886279|886280|886281|886282|886283|886284|887473|929223|939008|939009|940510|941254|951129", + "upstreamId": "21335|21336|21337|100280|106506|106507|106508|106509|237146|257368|335785|345492|345495|350111|351152|351153|351154|351155|351158|378134|422327|469419|469421|469428|470463|470468|471447|471448|471452|533578|533582|533625|533647|571306|571307|572845|572938|573576|573577|575117|575118|648767|648768|648769|648770|648771|648772|648773|648774|648775|653534|695847|780135|850634|850639|850641|850642|850643|850644|850645|850647|886278|886279|886280|886281|886282|886283|886284|887473|929223|939008|939009|940510|941254|951129", "text": "Congenital disorder of glycosylation type 1E" }, { - "baseId": "21338|204404|204404|271607", + "upstreamId": "21338|204404|204404|271607", "text": "Familial expansile osteolysis" }, { - "baseId": "21339|23147|23149|190424|198653|198654|204404|204405|247436|251872|251872|251873|251874|251874|251875|251876|251876|251877|251878|260472|266298|271607|271834|273902|297254|297255|299249|303455|332146|332149|332150|332151|332153|332154|342324|342325|342331|342332|342334|342338|342343|342349|347744|347745|347746|347752|347760|347763|349118|349128|349129|349134|349141|349144|368605|368616|406734|440879|440880|440880|440881|454867|454870|454871|454874|455001|455004|455006|455009|455013|455014|455474|455485|455486|455488|455490|455492|455723|495500|521095|521353|521355|521466|521476|521644|521649|560406|560408|560410|563086|563088|576805|633830|633831|633832|633833|633834|633835|633836|633837|633838|633839|633840|633841|633842|633843|633844|633845|633846|633847|651328|691836|691837|691838|691839|691840|699040|699043|699044|709848|716022|721414|721415|727766|741423|744221|749450|765071|777447|777539|777547|782265|819585|830757|830758|830759|830760|830761|830762|830763|830764|830765|830766|830767|830768|830769|830770|830771|830772|851907|879693|879694|879695|879696|879697|879698|879699|879700|879701|879702|879703|879704|879705|879706|879707|879708|879709|879710|879711|879712|879713|879714|879715|879716|879718|879719|879720|879721|879722|879723|879724|879725|879726|879727|879728|879729|879730|879731|879732|879733|879734|879735|879736|879737|879738|880672|880673|880674|880675|880676|894062|924020|924021|924022|924023|924024|924025|924026|944580|944581|944582|944583|944584|954148|954149|954150|959763", + "upstreamId": "21339|23147|23149|190424|198653|198654|204404|204405|247436|251872|251872|251873|251874|251874|251875|251876|251876|251877|251878|260472|266298|271607|271834|273902|297254|297255|299249|303455|332146|332149|332150|332151|332153|332154|342324|342325|342331|342332|342334|342338|342343|342349|347744|347745|347746|347752|347760|347763|349118|349128|349129|349134|349141|349144|368605|368616|406734|440879|440880|440880|440881|454867|454870|454871|454874|455001|455004|455006|455009|455013|455014|455474|455485|455486|455488|455490|455492|455723|495500|521095|521353|521355|521466|521476|521644|521649|560406|560408|560410|563086|563088|576805|633830|633831|633832|633833|633834|633835|633836|633837|633838|633839|633840|633841|633842|633843|633844|633845|633846|633847|651328|691836|691837|691838|691839|691840|699040|699043|699044|709848|716022|721414|721415|727766|741423|744221|749450|765071|777447|777539|777547|782265|819585|830757|830758|830759|830760|830761|830762|830763|830764|830765|830766|830767|830768|830769|830770|830771|830772|851907|879693|879694|879695|879696|879697|879698|879699|879700|879701|879702|879703|879704|879705|879706|879707|879708|879709|879710|879711|879712|879713|879714|879715|879716|879718|879719|879720|879721|879722|879723|879724|879725|879726|879727|879728|879729|879730|879731|879732|879733|879734|879735|879736|879737|879738|880672|880673|880674|880675|880676|894062|924020|924021|924022|924023|924024|924025|924026|944580|944581|944582|944583|944584|954148|954149|954150|959763", "text": "Paget disease of bone 2, early-onset" }, { - "baseId": "21340|21341|21342|21343|21344|190424|266298|271607|271834|273902|332146|332149|332150|332151|332153|332154|342324|342325|342331|342332|342334|342338|342343|342349|347744|347745|347746|347752|347760|347763|349118|349128|349129|349134|349141|349144|716022|727766|741423|879693|879694|879695|879696|879697|879698|879699|879700|879701|879702|879703|879704|879705|879706|879707|879708|879709|879710|879711|879712|879713|879714|879715|879716|879718|879719|879720|879721|879722|879723|879724|879725|879726|879727|879728|879729|879730|879731|879732|879733|879734|879735|879736|879737|879738|880672|880673|880674|880675|880676", + "upstreamId": "21340|21341|21342|21343|21344|190424|266298|271607|271834|273902|332146|332149|332150|332151|332153|332154|342324|342325|342331|342332|342334|342338|342343|342349|347744|347745|347746|347752|347760|347763|349118|349128|349129|349134|349141|349144|716022|727766|741423|879693|879694|879695|879696|879697|879698|879699|879700|879701|879702|879703|879704|879705|879706|879707|879708|879709|879710|879711|879712|879713|879714|879715|879716|879718|879719|879720|879721|879722|879723|879724|879725|879726|879727|879728|879729|879730|879731|879732|879733|879734|879735|879736|879737|879738|880672|880673|880674|880675|880676", "text": "Autosomal recessive osteopetrosis 7" }, { - "baseId": "21345|21346|76990|334431|344295|344304|349406|349409|349410|350418|620649|882549|882550|882551|882552|882553|882554|882555|882556|882557|882558|882559|882560|882561|882562|882563|882939|882940", + "upstreamId": "21345|21346|76990|334431|344295|344304|349406|349409|349410|350418|620649|882549|882550|882551|882552|882553|882554|882555|882556|882557|882558|882559|882560|882561|882562|882563|882939|882940", "text": "Infertility associated with multi-tailed spermatozoa and excessive DNA" }, { - "baseId": "21347|21349|21350|578378|965211", + "upstreamId": "21347|21349|21350|578378|965211", "text": "Mullerian aplasia and hyperandrogenism" }, { - "baseId": "21348|578378", + "upstreamId": "21348|578378", "text": "SERKAL syndrome" }, { - "baseId": "21351", + "upstreamId": "21351", "text": "Lumbar disc disease, susceptibility to" }, { - "baseId": "21352|21353|21354|21355|21356|21357|21359|94534|142630|208599|238353|243345|265986|333680|333685|333686|343684|349023|349028|349030|349032|349034|349917|349918|349920|349921|430219|430220|557386|578653|882094|882095|882096|882097|882098|882896|882897|882898|965627|965628", + "upstreamId": "21352|21353|21354|21355|21356|21357|21359|94534|142630|208599|238353|243345|265986|333680|333685|333686|343684|349023|349028|349030|349032|349034|349917|349918|349920|349921|430219|430220|557386|578653|882094|882095|882096|882097|882098|882896|882897|882898|965627|965628", "text": "Diamond-Blackfan anemia 1" }, { - "baseId": "21360|21361|21362|21363|21364|21365|21366|21367|21368|21369|21370|21371|21372|21373|21374|21375|21376|21377|21378|97542|98279|98280|98281|98282|98283|98284|98285|98286|98287|176996|177496|186781|186782|186783|186784|190535|190714|191131|191617|194259|195547|200164|200174|200175|200178|200179|200180|204411|227330|236999|252988|252989|253325|253328|253330|259915|260670|260671|260672|260673|271748|303680|303681|303690|303693|303697|303698|303699|303705|303706|303715|307052|307053|307059|307060|307064|307069|307072|307073|307074|307083|307084|307089|307090|307091|307111|307112|307115|307116|307119|307122|307124|307127|311160|311162|311163|311201|311210|311211|312042|312049|312060|312061|312065|312066|312067|312069|312077|312078|312080|312094|312111|312113|312131|312132|312144|316786|316789|316793|316794|316795|317203|317204|317206|317223|317229|357775|357776|357777|357778|357779|357780|357781|357782|357783|370425|370688|372324|415163|421714|425824|433368|458127|458419|458425|458888|458890|458934|458935|458938|487247|487354|502584|502694|502699|503002|503015|524074|524076|524366|524588|524631|524639|544680|544683|544687|544690|544701|544704|544992|544994|544996|544997|545001|545002|545004|545113|545115|545117|545125|545128|545131|545207|545208|545211|545216|545221|545226|545228|545233|545238|563560|565354|565571|565573|565575|568550|568555|612131|612283|620321|620809|621294|621295|637784|637785|637786|637787|637788|637789|651832|655902|655903|692594|692595|692596|695419|700836|723363|723365|736928|736929|751439|751440|751441|751442|751443|751444|775347|775488|783297|790765|790846|801663|801664|801665|801666|801667|801668|801669|801670|801671|801672|801673|820076|820077|835570|835571|835572|835573|835574|835575|835576|835577|835578|835579|852487|901185|901186|901187|901188|901189|901190|901191|903322|903323|903324|917471|925406|925407|925408|925409|934571|934572|934573|934574|940925|940926|946397|955708|955709|955710|955711|955712|955713|959913|961782|978569|978570|978571|980932|981663|981664|981665|981666|981667", + "upstreamId": "21360|21361|21362|21363|21364|21365|21366|21367|21368|21369|21370|21371|21372|21373|21374|21375|21376|21377|21378|97542|98279|98280|98281|98282|98283|98284|98285|98286|98287|176996|177496|186781|186782|186783|186784|190535|190714|191131|191617|194259|195547|200164|200174|200175|200178|200179|200180|204411|227330|236999|252988|252989|253325|253328|253330|259915|260670|260671|260672|260673|271748|303680|303681|303690|303693|303697|303698|303699|303705|303706|303715|307052|307053|307059|307060|307064|307069|307072|307073|307074|307083|307084|307089|307090|307091|307111|307112|307115|307116|307119|307122|307124|307127|311160|311162|311163|311201|311210|311211|312042|312049|312060|312061|312065|312066|312067|312069|312077|312078|312080|312094|312111|312113|312131|312132|312144|316786|316789|316793|316794|316795|317203|317204|317206|317223|317229|357775|357776|357777|357778|357779|357780|357781|357782|357783|370425|370688|372324|415163|421714|425824|433368|458127|458419|458425|458888|458890|458934|458935|458938|487247|487354|502584|502694|502699|503002|503015|524074|524076|524366|524588|524631|524639|544680|544683|544687|544690|544701|544704|544992|544994|544996|544997|545001|545002|545004|545113|545115|545117|545125|545128|545131|545207|545208|545211|545216|545221|545226|545228|545233|545238|563560|565354|565571|565573|565575|568550|568555|612131|612283|620321|620809|621294|621295|637784|637785|637786|637787|637788|637789|651832|655902|655903|692594|692595|692596|695419|700836|723363|723365|736928|736929|751439|751440|751441|751442|751443|751444|775347|775488|783297|790765|790846|801663|801664|801665|801666|801667|801668|801669|801670|801671|801672|801673|820076|820077|835570|835571|835572|835573|835574|835575|835576|835577|835578|835579|852487|901185|901186|901187|901188|901189|901190|901191|903322|903323|903324|917471|925406|925407|925408|925409|934571|934572|934573|934574|940925|940926|946397|955708|955709|955710|955711|955712|955713|959913|961782|978569|978570|978571|980932|981663|981664|981665|981666|981667", "text": "Citrullinemia type I" }, { - "baseId": "21373|98282|98286|99030|99032|191131|253327|311163|312111|312132|370688|421714|637783|835572", + "upstreamId": "21373|98282|98286|99030|99032|191131|253327|311163|312111|312132|370688|421714|637783|835572", "text": "Citrullinemia" }, { - "baseId": "21374|21375", + "upstreamId": "21374|21375", "text": "Citrullinemia, mild" }, { - "baseId": "21379|21380|21381|21382|21383|138087|138088|138090|138093|205168|207863|241077|241078|241080|241081|241084|247056|254127|254128|313736|313738|313753|313755|313760|313761|313763|313779|313785|319945|319946|319947|319949|319952|319955|319957|319961|319977|326147|326150|326155|326156|326157|326159|326161|327056|327060|327063|327066|327067|327070|327071|327089|327095|327096|327100|408323|429237|461117|564550|687747|796556|796557|867781|867782|867783|867784|867785|867786|867787|867788|867789|867790|867791|867792|867793|867794|867795|867796|867797|867798|867799|867800|917880|917882|917883|980465", + "upstreamId": "21379|21380|21381|21382|21383|138087|138088|138090|138093|205168|207863|241077|241078|241080|241081|241084|247056|254127|254128|313736|313738|313753|313755|313760|313761|313763|313779|313785|319945|319946|319947|319949|319952|319955|319957|319961|319977|326147|326150|326155|326156|326157|326159|326161|327056|327060|327063|327066|327067|327070|327071|327089|327095|327096|327100|408323|429237|461117|564550|687747|796556|796557|867781|867782|867783|867784|867785|867786|867787|867788|867789|867790|867791|867792|867793|867794|867795|867796|867797|867798|867799|867800|917880|917882|917883|980465", "text": "Fanconi anemia, complementation group F" }, { - "baseId": "21384|622682|622683", + "upstreamId": "21384|622682|622683", "text": "Familial advanced sleep phase syndrome 1" }, { - "baseId": 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"text": "Primary erythromelalgia" }, { - "baseId": "21389", + "upstreamId": "21389", "text": "Abnormality of pain sensation" }, { - "baseId": "21389|360927", + "upstreamId": "21389|360927", "text": "Acute episodes of neuropathic symptoms" }, { - "baseId": 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7|942388|942389|942390|942391|942392|942393|942394|942395|942396|952765|952766|952767|952768|952769|952770|952771|952772|952773|952774|952775|952776|952777|952778|952779|952780|959592|959593|959594|959595|960453", "text": "Generalized epilepsy with febrile seizures plus, type 7" }, { - "baseId": "21389", + "upstreamId": "21389", "text": "SCN9A-related peripheral neuropathies associated with increased pain" }, { - "baseId": 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+ "upstreamId": 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"text": "Indifference to pain, congenital, autosomal recessive" }, { - "baseId": 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+ "upstreamId": 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"text": "Paroxysmal extreme pain disorder" }, { - "baseId": "21406|27037|360928|792811", + "upstreamId": "21406|27037|360928|792811", "text": "Hypoglycemia" }, { - "baseId": "21407|21408", + "upstreamId": "21407|21408", "text": "Febrile seizures, familial, 3b" }, { - "baseId": "21409|34196|135701|135703|135712|135713|135717|167458|178055|178056|178057|178058|191370|191661|192753|192977|193181|238383|244319|250353|273736|275422|282547|282548|282552|282565|282571|282582|282589|282594|282597|282603|283189|283191|283192|283193|283205|283206|283227|283230|283231|283254|283258|283259|283267|283268|283293|283297|283306|283308|283322|283335|283336|284810|284813|284820|284821|284835|284837|284846|284848|284864|284867|284871|284874|285257|285260|285263|285267|285287|285291|285292|285305|285321|285329|285331|285333|285347|285355|285356|285364|285367|285390|285392|285393|285402", + "upstreamId": 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+ "upstreamId": 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"text": "Hermansky-Pudlak syndrome 2" }, { - "baseId": "21418|21419|21420|21421|21422|21423|21424|21425|21427|21428|176922|246855|298749|298751|298765|298772|301224|301225|301227|301230|301231|305601|305703|305705|305706|446858|511619|615922|620208|624850|626074|699260|721679|805460|816457|857385|895197|895198|896180", + "upstreamId": "21418|21419|21420|21421|21422|21423|21424|21425|21427|21428|176922|246855|298749|298751|298765|298772|301224|301225|301227|301230|301231|305601|305703|305705|305706|446858|511619|615922|620208|624850|626074|699260|721679|805460|816457|857385|895197|895198|896180", "text": "Progressive pseudorheumatoid dysplasia" }, { - "baseId": "21429", + "upstreamId": "21429", "text": "Pigmented nodular adrenocortical disease, primary, 3" }, { - "baseId": "21430|237517|237518|298056|298057|298060|298061|298066|298070|298071|300250|300254|300262|300264|300271|300273|300274|300292|300304|300317|300319|300320|300323|304477|304505|304506|304515|304517|304525|304531|304533|304536|304537|304538|304539|304543|304544|304550|304565|304567|304585|304599|304612|304613|304773|304774|304777|304804|304807|304813|304817|304818|304820|304826|304827|304830|304831|304832|304841|304845|304846|304894|304898|735198|735200|790564|894661|894662|894663|894664|894665|894666|894667|894668|894669|894670|894671|894672|894673|894674|894675|894676|894677|894678|894679|894680|894681|894682|894683|894684|896132|896133|918979|918980|920212|964261|964362", + "upstreamId": "21430|237517|237518|298056|298057|298060|298061|298066|298070|298071|300250|300254|300262|300264|300271|300273|300274|300292|300304|300317|300319|300320|300323|304477|304505|304506|304515|304517|304525|304531|304533|304536|304537|304538|304539|304543|304544|304550|304565|304567|304585|304599|304612|304613|304773|304774|304777|304804|304807|304813|304817|304818|304820|304826|304827|304830|304831|304832|304841|304845|304846|304894|304898|735198|735200|790564|894661|894662|894663|894664|894665|894666|894667|894668|894669|894670|894671|894672|894673|894674|894675|894676|894677|894678|894679|894680|894681|894682|894683|894684|896132|896133|918979|918980|920212|964261|964362", "text": "Striatal degeneration, autosomal dominant 1" }, { - "baseId": 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+ "upstreamId": 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"text": "Mental retardation, autosomal dominant 5" }, { - "baseId": "21434|21435|21436|21446|21447|34132|34149|199884|246954|270859|273662|495655|495659|550594|550595|578659|578660|578661|578664|578665|609238|609239|622083|795463|798536", + "upstreamId": "21434|21435|21436|21446|21447|34132|34149|199884|246954|270859|273662|495655|495659|550594|550595|578659|578660|578661|578664|578665|609238|609239|622083|795463|798536", "text": "Spondylocarpotarsal synostosis syndrome" }, { - "baseId": "21437|21438|21444|21445|34130|34131|34133|34135|34137|34139|34144|34148|193539|246954|251267|267835|268588|270886|270894|273662|310812|310813|310820|310829|310830|310831|310832|310842|310844|310848|310850|310852|310858|310859|310862|310864|310866|310868|310870|310878|310884|310887|310890|310892|310895|310899|310907|310918|310919|310928|310929|310930|310931|316068|316069|316072|316073|316074|316082|316090|316094|316099|316103|316111|316112|316114|316120|316133|316144|316148|316149|316156|316162|316169|316174|316175|316176|316177|316180|316181|316189|316190|316200|316201|316204|316205|316210|316220|316221|316223|316226|322169|322170|322172|322183|322185|322190|322191|322192|322196|322197|322199|322200|322212|322213|322218|322231|322232|322233|322236|322239|322240|322241|322242|322245|322246|322254|322260|322261|322266|322267|322274|322275|322276|322780|322783|322784|322785|322786|322789|322790|322801|322802|322803|322804|322806|322807|322808|322815|322816|322822|322831|322832|322845|322849|322876|322879|322880|322882|322887|322888|322890|322891|322892|322893|322894|322896|322900|513264|578424|682802|682815|790414|974887", + "upstreamId": "21437|21438|21444|21445|34130|34131|34133|34135|34137|34139|34144|34148|193539|246954|251267|267835|268588|270886|270894|273662|310812|310813|310820|310829|310830|310831|310832|310842|310844|310848|310850|310852|310858|310859|310862|310864|310866|310868|310870|310878|310884|310887|310890|310892|310895|310899|310907|310918|310919|310928|310929|310930|310931|316068|316069|316072|316073|316074|316082|316090|316094|316099|316103|316111|316112|316114|316120|316133|316144|316148|316149|316156|316162|316169|316174|316175|316176|316177|316180|316181|316189|316190|316200|316201|316204|316205|316210|316220|316221|316223|316226|322169|322170|322172|322183|322185|322190|322191|322192|322196|322197|322199|322200|322212|322213|322218|322231|322232|322233|322236|322239|322240|322241|322242|322245|322246|322254|322260|322261|322266|322267|322274|322275|322276|322780|322783|322784|322785|322786|322789|322790|322801|322802|322803|322804|322806|322807|322808|322815|322816|322822|322831|322832|322845|322849|322876|322879|322880|322882|322887|322888|322890|322891|322892|322893|322894|322896|322900|513264|578424|682802|682815|790414|974887", "text": "Larsen syndrome" }, { - "baseId": "21439|21440|34134|34136|34142|34143|34146|46907|131909|246954|259290|273662|291312", + "upstreamId": "21439|21440|34134|34136|34142|34143|34146|46907|131909|246954|259290|273662|291312", "text": "Atelosteogenesis type 1" }, { - "baseId": "21440|21441|34138|34140|34145|34147|246954|273662|291312|359580|903494|918851|918852|918853|918854|974887", + "upstreamId": "21440|21441|34138|34140|34145|34147|246954|273662|291312|359580|903494|918851|918852|918853|918854|974887", "text": "Atelosteogenesis type III" }, { - "baseId": "21442|21443|246954|273662|578424", + "upstreamId": "21442|21443|246954|273662|578424", "text": "Boomerang dysplasia" }, { - "baseId": 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+ "upstreamId": 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"text": "Renal carnitine transport defect" }, { - "baseId": "21469", + "upstreamId": "21469", "text": "THYROTROPIN RECEPTOR POLYMORPHISM" }, { - "baseId": "21469|21472|21475|21478|21481|21484|21487|21488|21489|21490|21491|21493|21496|139131|139133|139135|139137|139138|139139|139140|205285|215485|227361|227362|255092|255093|255095|321627|321628|321633|321634|321635|321636|330890|330891|330894|330904|330906|330908|330912|337547|337553|337556|337563|337564|337565|337571|337572|337585|337591|337607|337609|337613|339633|339636|339638|339642|339647|339648|339655|339657|339660|339661|339664|339665|429594|693609|739359|754183|791425|872794|872795|872796|872797|872798|872799|872800|872801|872802|872803|872804|872805|872806|872807|872808|872809|872810|872811|872812|872813|872814|872815|872816|872817|872818|872819|872820|872821|872822|872823|872824|872825|876459", + "upstreamId": "21469|21472|21475|21478|21481|21484|21487|21488|21489|21490|21491|21493|21496|139131|139133|139135|139137|139138|139139|139140|205285|215485|227361|227362|255092|255093|255095|321627|321628|321633|321634|321635|321636|330890|330891|330894|330904|330906|330908|330912|337547|337553|337556|337563|337564|337565|337571|337572|337585|337591|337607|337609|337613|339633|339636|339638|339642|339647|339648|339655|339657|339660|339661|339664|339665|429594|693609|739359|754183|791425|872794|872795|872796|872797|872798|872799|872800|872801|872802|872803|872804|872805|872806|872807|872808|872809|872810|872811|872812|872813|872814|872815|872816|872817|872818|872819|872820|872821|872822|872823|872824|872825|876459", "text": "Hyperthyroidism, nonautoimmune" }, { - "baseId": "21469|21473|21474|21477|21478|21479|21480|21481|21482|21483|21484|21486|21494|21495|21497|21498|21499|21500|139131|139133|139135|139137|139138|139139|139140|187122|205285|215485|227361|227362|255092|255093|255095|321627|321628|321633|321635|330890|330891|330894|330904|330906|330908|330912|337547|337553|337556|337563|337564|337565|337571|337572|337585|337591|337607|337609|337613|339633|339636|339638|339647|339648|339655|339657|339660|339661|339664|339665|429594|612305|693609|739359|754183|872794|872795|872796|872797|872798|872799|872800|872801|872802|872803|872804|872805|872806|872807|872808|872809|872810|872811|872812|872813|872814|872815|872816|872817|872818|872819|872820|872821|872822|872823|872824|872825|876459|906178|906181", + "upstreamId": "21469|21473|21474|21477|21478|21479|21480|21481|21482|21483|21484|21486|21494|21495|21497|21498|21499|21500|139131|139133|139135|139137|139138|139139|139140|187122|205285|215485|227361|227362|255092|255093|255095|321627|321628|321633|321635|330890|330891|330894|330904|330906|330908|330912|337547|337553|337556|337563|337564|337565|337571|337572|337585|337591|337607|337609|337613|339633|339636|339638|339647|339648|339655|339657|339660|339661|339664|339665|429594|612305|693609|739359|754183|872794|872795|872796|872797|872798|872799|872800|872801|872802|872803|872804|872805|872806|872807|872808|872809|872810|872811|872812|872813|872814|872815|872816|872817|872818|872819|872820|872821|872822|872823|872824|872825|876459|906178|906181", "text": "Hypothyroidism, congenital, nongoitrous, 1" }, { - "baseId": "21470|21471|21472|21485|21490", + "upstreamId": "21470|21471|21472|21485|21490", "text": "Thyroid adenoma, hyperfunctioning" }, { - "baseId": "21476", + "upstreamId": "21476", "text": "THYROID CARCINOMA WITH THYROTOXICOSIS, SOMATIC" }, { - "baseId": 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+ "upstreamId": 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"text": "Epilepsy" }, { - "baseId": "21481", + "upstreamId": "21481", "text": "autistic features" }, { - "baseId": "21481|39943|202625|264298|354285|354286|354286|354287|354287|354288|354290|354295|354296|354297|354298|354298|354300|354305|360822|360938|360965|361086|425202|425203|444751|538627|622148|623665|623666|623667|672066|792771|916788|970336|970340|970344|970520", + "upstreamId": "21481|39943|202625|264298|354285|354286|354286|354287|354287|354288|354290|354295|354296|354297|354298|354298|354300|354305|360822|360938|360965|361086|425202|425203|444751|538627|622148|623665|623666|623667|672066|792771|916788|970336|970340|970344|970520", "text": "Developmental delay" }, { - "baseId": "21492", + "upstreamId": "21492", "text": "Hyperthyroidism, familial gestational" }, { - "baseId": "21501|21502|190983|195270|253314|253315|268653|269663|269663|273264|306902|306911|306915|306920|306927|306929|311078|311084|311096|311101|316683|316685|316686|317048|317051|317080|317081|317086|317087|317088|317090|513613|692578|695413|695414|901142|901143|901144|901145|901146|901147|901148|901149|901150|901151|901152|901153|901154|901155|901156|901157|901158|901159|901160|901161|901162|901163|903318|903319|903320", + "upstreamId": "21501|21502|190983|195270|253314|253315|268653|269663|269663|273264|306902|306911|306915|306920|306927|306929|311078|311084|311096|311101|316683|316685|316686|317048|317051|317080|317081|317086|317087|317088|317090|513613|692578|695413|695414|901142|901143|901144|901145|901146|901147|901148|901149|901150|901151|901152|901153|901154|901155|901156|901157|901158|901159|901160|901161|901162|901163|903318|903319|903320", "text": "Lethal congenital contracture syndrome 1" }, { - "baseId": "21501|21502|21503|21504|190983|195270|253314|253315|268653|269663|269663|273264|306902|306911|306915|306920|306927|306929|311078|311084|311096|311101|316683|316685|316686|317048|317051|317080|317081|317085|317086|317087|317088|317090|610536|610537|610538|610539|692578|692579|692582|692583|695413|695414|901142|901143|901144|901145|901146|901147|901148|901149|901150|901151|901152|901153|901154|901155|901156|901157|901158|901159|901160|901161|901162|901163|903318|903319|903320|978561|978562|978563|978564|978565|978566|978567|978568", + "upstreamId": "21501|21502|21503|21504|190983|195270|253314|253315|268653|269663|269663|273264|306902|306911|306915|306920|306927|306929|311078|311084|311096|311101|316683|316685|316686|317048|317051|317080|317081|317085|317086|317087|317088|317090|610536|610537|610538|610539|692578|692579|692582|692583|695413|695414|901142|901143|901144|901145|901146|901147|901148|901149|901150|901151|901152|901153|901154|901155|901156|901157|901158|901159|901160|901161|901162|901163|903318|903319|903320|978561|978562|978563|978564|978565|978566|978567|978568", "text": "Lethal arthrogryposis with anterior horn cell disease" }, { - "baseId": "21501|21502|273264|444366|692580|695415|711770|736904", + "upstreamId": "21501|21502|273264|444366|692580|695415|711770|736904", "text": "Lethal congenital contractural syndrome Finnish type" }, { - "baseId": "21505|21506|193558|195974|195974|254173|254176|265404|267043|271125|314152|314158|314159|314163|314168|314170|320691|320692|320695|320695|320703|320706|320707|320708|326768|326782|326784|326787|326800|327727|327734|327737|327738|327740|490260|492179|587980|730769|802178|868019|868020|868021|868022|868023|868024|868025|868026|868027|868028|868029|868649|896571", + "upstreamId": "21505|21506|193558|195974|195974|254173|254176|265404|267043|271125|314152|314158|314159|314163|314168|314170|320691|320692|320695|320695|320703|320706|320707|320708|326768|326782|326784|326787|326800|327727|327734|327737|327738|327740|490260|492179|587980|730769|802178|868019|868020|868021|868022|868023|868024|868025|868026|868027|868028|868029|868649|896571", "text": "Peroxisome biogenesis disorder 8A" }, { - "baseId": "21507|21508|21509|286489|286492|286497|286503|286504|286509|286511|286519|286529|286532|286536|286552|286554|286559|286562|286565|286580|286581|286582|286583|287179|287180|287183|287184|287188|287190|287191|287199|287200|287211|287214|287228|287231|287243|287254|287271|287272|287273|287279|287280|287299|287300|287305|289527|289539|289541|289544|289558|289563|289578|289581|289584|289600|289601|289606|289607|289614|289619|289623|289625|289627|289637|289641|289981|289982|290010|290011|290012|290013|290014|290018|290022|290023|290024|290027|290028|290030|290032|290034|290035|290045|290046|290047|290049|290061|290065|290070|428060|885033|885034|885035|885036|885037|885038|885039|885040|885041|885042|885043|885044|885045|885046|885047|885048|885049|885050|885051|885052|885053|885054|885055|885056|885057|885058|885059|885060|885061|885062|885063|885064|885065|885066|885067|885068|885069|885070|885071|885072|887375|887376", + "upstreamId": "21507|21508|21509|286489|286492|286497|286503|286504|286509|286511|286519|286529|286532|286536|286552|286554|286559|286562|286565|286580|286581|286582|286583|287179|287180|287183|287184|287188|287190|287191|287199|287200|287211|287214|287228|287231|287243|287254|287271|287272|287273|287279|287280|287299|287300|287305|289527|289539|289541|289544|289558|289563|289578|289581|289584|289600|289601|289606|289607|289614|289619|289623|289625|289627|289637|289641|289981|289982|290010|290011|290012|290013|290014|290018|290022|290023|290024|290027|290028|290030|290032|290034|290035|290045|290046|290047|290049|290061|290065|290070|428060|885033|885034|885035|885036|885037|885038|885039|885040|885041|885042|885043|885044|885045|885046|885047|885048|885049|885050|885051|885052|885053|885054|885055|885056|885057|885058|885059|885060|885061|885062|885063|885064|885065|885066|885067|885068|885069|885070|885071|885072|887375|887376", "text": "Erythrocytosis, familial, 4" }, { - "baseId": "21510|21511|21512|294086|294097|294098|294101|294102|294109|294111|294115|294116|294123|294125|294129|294130|294136|294137|294138|294140|294141|294142|294145|294146|295551|295552|295555|295563|295567|295570|295579|295581|295583|295588|295591|295599|295600|295602|295603|295605|295607|295610|295615|295617|295632|295639|295641|295651|295652|295660|299349|299358|299360|299362|299363|299364|299367|299374|299378|299380|299382|299386|299387|299391|299392|299393|299394|299395|299396|299397|299401|299405|299406|299407|299408|299410|299412|299413|299414|299417|299418|299425|299426|299427|299430|299433|299447|299449|536190|698621|709444|721059|721061|721062|764610|779211|790483|790484|892153|892154|892155|892156|892157|892158|892159|892160|892161|892162|892163|892164|892165|892166|892167|892168|892169|892170|892171|892172|892173|892174|892175|892176|892177|892178|892179|892180|892181|892182|892183|892184|892185|892186|892187|892188|892189|892190|892191|892192|892193|892194|892195|892196|892197|892198|892199|892200|895992|895993|895994", + "upstreamId": "21510|21511|21512|294086|294097|294098|294101|294102|294109|294111|294115|294116|294123|294125|294129|294130|294136|294137|294138|294140|294141|294142|294145|294146|295551|295552|295555|295563|295567|295570|295579|295581|295583|295588|295591|295599|295600|295602|295603|295605|295607|295610|295615|295617|295632|295639|295641|295651|295652|295660|299349|299358|299360|299362|299363|299364|299367|299374|299378|299380|299382|299386|299387|299391|299392|299393|299394|299395|299396|299397|299401|299405|299406|299407|299408|299410|299412|299413|299414|299417|299418|299425|299426|299427|299430|299433|299447|299449|536190|698621|709444|721059|721061|721062|764610|779211|790483|790484|892153|892154|892155|892156|892157|892158|892159|892160|892161|892162|892163|892164|892165|892166|892167|892168|892169|892170|892171|892172|892173|892174|892175|892176|892177|892178|892179|892180|892181|892182|892183|892184|892185|892186|892187|892188|892189|892190|892191|892192|892193|892194|892195|892196|892197|892198|892199|892200|895992|895993|895994", "text": "Renal tubular acidosis, proximal, with ocular abnormalities and mental retardation" }, { - "baseId": "21513|21514|21515|45639|45640|45641|174062|174072|192740|195508|205155|205156|221681|221689|221695|229586|240035|240066|252675|252694|252721|252744|252752|252758|252770|259857|265859|273561|302431|310521|310767|395584|395617|395748|395901|395919|396216|446887|456552|456980|457024|457617|522535|523191|538394|561807|561840|564206|564207|566687|566706|620255|620256|620257|635993|683866|683877|687021|687030|792769|798584|800942|815839|833438|833467|857594|857595|857596|857597|857604|861606|897831|897832|897833|897834|897835|897836|897837|897838|897839|897840|897841|897842|897843|897844|897845|897846|897847|897848|897849|897850|897851|897852|897853|897854|897855|897856|897857|897858|897859|897860|897861|897862|897863|897864|897865|897866|897867|897868|897870|897871|900337|900338|900339|900340|900341|900342|900343|900344|919099|963147", + "upstreamId": "21513|21514|21515|45639|45640|45641|174062|174072|192740|195508|205155|205156|221681|221689|221695|229586|240035|240066|252675|252694|252721|252744|252752|252758|252770|259857|265859|273561|302431|310521|310767|395584|395617|395748|395901|395919|396216|446887|456552|456980|457024|457617|522535|523191|538394|561807|561840|564206|564207|566687|566706|620255|620256|620257|635993|683866|683877|687021|687030|792769|798584|800942|815839|833438|833467|857594|857595|857596|857597|857604|861606|897831|897832|897833|897834|897835|897836|897837|897838|897839|897840|897841|897842|897843|897844|897845|897846|897847|897848|897849|897850|897851|897852|897853|897854|897855|897856|897857|897858|897859|897860|897861|897862|897863|897864|897865|897866|897867|897868|897870|897871|900337|900338|900339|900340|900341|900342|900343|900344|919099|963147", "text": "Ciliary dyskinesia, primary, 7" }, { - "baseId": "21513", + "upstreamId": "21513", "text": "CILIARY DYSKINESIA, PRIMARY, 7, WITH SITUS INVERSUS" }, { - "baseId": 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+ "upstreamId": 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"text": "Ciliary dyskinesia, primary, 3" }, { - "baseId": "21521|21522|21523|21524|21528|21530|21532|55248|55249|55250|55252|55253|172439|172440|172441|172443|172579|172580|172581|273253|280399|280422|280427|280751|280752|280759|280761|280775|280800|282163|282164|282174|282176|282177|282178|282181|282187|282193|282201|282267|282268|282271|282276|282277|282278|282286|282297|282299|282311|282319|282320|282321|282327|282344|513242|707362|864310|864311|864312|864313|864314|864315|864316|864317|864318|864319|864320|864321|864322|864323|864324|864325|864326|864327|864328|864329|864330|864331|918634", + "upstreamId": "21521|21522|21523|21524|21528|21530|21532|55248|55249|55250|55252|55253|172439|172440|172441|172443|172579|172580|172581|273253|280399|280422|280427|280751|280752|280759|280761|280775|280800|282163|282164|282174|282176|282177|282178|282181|282187|282193|282201|282267|282268|282271|282276|282277|282278|282286|282297|282299|282311|282319|282320|282321|282327|282344|513242|707362|864310|864311|864312|864313|864314|864315|864316|864317|864318|864319|864320|864321|864322|864323|864324|864325|864326|864327|864328|864329|864330|864331|918634", "text": "Erythrokeratodermia variabilis et progressiva 1" }, { - "baseId": "21524|21525|273253", + "upstreamId": "21524|21525|273253", "text": "Deafness, autosomal dominant 2b" }, { - "baseId": "21529", + "upstreamId": "21529", "text": "Deafness, autosomal dominant, with peripheral neuropathy" }, { - "baseId": "21531|21532|32053", + "upstreamId": "21531|21532|32053", "text": "Deafness, digenic, GJB2/GJB3" }, { - "baseId": "21536|79362|257330|413913|413914|469332|470297|470856|470859|470861|533438|533493|533498|533522|534017|572865|648586|689185|689186|689187|694527|848232", + "upstreamId": "21536|79362|257330|413913|413914|469332|470297|470856|470859|470861|533438|533493|533498|533522|534017|572865|648586|689185|689186|689187|694527|848232", "text": "Cataract 33, multiple types" }, { - "baseId": "21537|21538|134877|281450|281454|281457|281461|281470|281474|281477|281478|281485|281494|281495|281505|281506|282103|282104|282108|282110|282111|282112|282114|282116|282117|282118|282120|282121|282132|282133|282134|282135|282136|282139|282140|282141|283429|283436|283451|283452|283456|283457|283465|283469|283479|283482|283483|283486|283492|283493|283494|283502|283576|283588|283601|283602|283605|283607|283608|283609|283622|283625|380188|380189|620731|880754|880755|880756|880757|880758|880759|880760|880761|880762|880763|880764|880765|880766|880767|880768|880769|880770|880771|880772|880773|880774|880775|880776|880777|880778|880779|880780|880781|880782|880783|880784|880785|880786|880787|880788|880789", + "upstreamId": "21537|21538|134877|281450|281454|281457|281461|281470|281474|281477|281478|281485|281494|281495|281505|281506|282103|282104|282108|282110|282111|282112|282114|282116|282117|282118|282120|282121|282132|282133|282134|282135|282136|282139|282140|282141|283429|283436|283451|283452|283456|283457|283465|283469|283479|283482|283483|283486|283492|283493|283494|283502|283576|283588|283601|283602|283605|283607|283608|283609|283622|283625|380188|380189|620731|880754|880755|880756|880757|880758|880759|880760|880761|880762|880763|880764|880765|880766|880767|880768|880769|880770|880771|880772|880773|880774|880775|880776|880777|880778|880779|880780|880781|880782|880783|880784|880785|880786|880787|880788|880789", "text": "Maturity-onset diabetes of the young type 7" }, { - "baseId": 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+ "upstreamId": 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"text": "Monogenic diabetes" }, { - "baseId": 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+ "upstreamId": 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"text": "Short-rib thoracic dysplasia 3 with or without polydactyly" }, { - "baseId": 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"text": "Jeune thoracic dystrophy" }, { - "baseId": "21542|99432|99433|99434|101405|190320|191512|193171|195492|196116|212830|212833|222014|222018|247750|247751|250474|263847|268859|268973|273447|274239|283786|283829|284409|284412|284415|284460|284474|286856|292809|292820|294154|297755|312091|312097|312112|312114|312115|312116|312118|312126|312136|312137|312146|312149|312153|312155|312157|312162|312167|317764|317765|317791|317793|317794|317803|317807|317821|317852|317856|317867|317869|317876|317880|317892|317893|317897|317898|317924|317933|323847|323852|323857|323882|323906|323913|323917|323925|323929|323932|323937|323941|323964|323982|323985|324560|324561|324562|324571|324577|324578|324584|324586|324603|324624|324625|324669|324703|324710|324714|324724|440064|481523|481524|486678|496106|496107|609190|609205|609305|609306|654623", + "upstreamId": "21542|99432|99433|99434|101405|190320|191512|193171|195492|196116|212830|212833|222014|222018|247750|247751|250474|263847|268859|268973|273447|274239|283786|283829|284409|284412|284415|284460|284474|286856|292809|292820|294154|297755|312091|312097|312112|312114|312115|312116|312118|312126|312136|312137|312146|312149|312153|312155|312157|312162|312167|317764|317765|317791|317793|317794|317803|317807|317821|317852|317856|317867|317869|317876|317880|317892|317893|317897|317898|317924|317933|323847|323852|323857|323882|323906|323913|323917|323925|323929|323932|323937|323941|323964|323982|323985|324560|324561|324562|324571|324577|324578|324584|324586|324603|324624|324625|324669|324703|324710|324714|324724|440064|481523|481524|486678|496106|496107|609190|609205|609305|609306|654623", "text": "Short Rib Polydactyly Syndrome" }, { - "baseId": "21542|360924", + "upstreamId": "21542|360924", "text": "Bowing of the long bones" }, { - "baseId": "21542|255586|360924|360944|514005|514055", + "upstreamId": "21542|255586|360924|360944|514005|514055", "text": "Narrow chest" }, { - "baseId": "21542|224877|263257|360924|550129|550226|801074", + "upstreamId": "21542|224877|263257|360924|550129|550226|801074", "text": "Intrauterine growth retardation" }, { - "baseId": "21542|549477|620379|620380|620381|620382", + "upstreamId": "21542|549477|620379|620380|620381|620382", "text": "DYNC2H1-Related Disorders" }, { - "baseId": "21545|21546|21547|48579|48581|196212|353902|359980|371024|397593|408032|408035|433515|440106|440107|440108|440109|440112|440113|440118|440119|440120|440121|440122|440123|440124|440128|440129|440130|440133|440134|440136|440138|440139|440141|440143|440144|440145|440147|440150|440153|440156|440157|440158|440159|440160|440161|440162|440163|440164|440165|440168|440169|440171|440172|440174|440176|440178|440181|440183|440184|440185|440190|440191|440192|440193|440194|440196|440197|440200|440201|440206|440207|440208|440211", + "upstreamId": "21545|21546|21547|48579|48581|196212|353902|359980|371024|397593|408032|408035|433515|440106|440107|440108|440109|440112|440113|440118|440119|440120|440121|440122|440123|440124|440128|440129|440130|440133|440134|440136|440138|440139|440141|440143|440144|440145|440147|440150|440153|440156|440157|440158|440159|440160|440161|440162|440163|440164|440165|440168|440169|440171|440172|440174|440176|440178|440181|440183|440184|440185|440190|440191|440192|440193|440194|440196|440197|440200|440201|440206|440207|440208|440211", "text": "Short-rib polydactyly syndrome type III" }, { - "baseId": "21554|71564|71565|210240|210241|210242|230444|230446|319588|334487|336196|336215|463630|528081|799740|981835|981836", + "upstreamId": "21554|71564|71565|210240|210241|210242|230444|230446|319588|334487|336196|336215|463630|528081|799740|981835|981836", "text": "Primary pulmonary hypertension 2" }, { - "baseId": "21555|21556|21557|207900|207908|225857|364272|429299|429311|551307|551308|611407|611755", + "upstreamId": "21555|21556|21557|207900|207908|225857|364272|429299|429311|551307|551308|611407|611755", "text": "Autism 17" }, { - "baseId": "21558|21559|21560|21561|71187|71188|71189|227428", + "upstreamId": "21558|21559|21560|21561|71187|71188|71189|227428", "text": "Cornea plana 2" }, { - "baseId": "21562|21563|21564|21565|135426|135427|135428|135429|142434|142435|142436|203472|203473|203474|203475|203476|203477|203478|203481|203485|203486|203488|203490|203491|203492|203493|224877|329015|329019|329020|329033|329035|329036|339028|339042|339044|339045|339049|339050|339053|339054|339055|339061|339066|339076|339077|345037|345045|345054|345061|345063|345064|345067|345069|346381|346382|346385|346387|346390|346391|346399|346400|353445|402121|402165|402168|422177|468353|494104|513137|531696|536941|571243|571246|571582|574506|580260|580351|584421|586651|614440|614441|646141|646142|646143|771607|845551|845552|845553|845554|845555|845556|845557|845558|845559|845560|845561|845562|877850|877851|877852|877853|877854|877855|877856|877857|877858|877859|877860|877861|877862|877863|877864|877865|877866|928359|938003|938004|938005|949995|958152|958153|964484", + "upstreamId": "21562|21563|21564|21565|135426|135427|135428|135429|142434|142435|142436|203472|203473|203474|203475|203476|203477|203478|203481|203485|203486|203488|203490|203491|203492|203493|224877|329015|329019|329020|329033|329035|329036|339028|339042|339044|339045|339049|339050|339053|339054|339055|339061|339066|339076|339077|345037|345045|345054|345061|345063|345064|345067|345069|346381|346382|346385|346387|346390|346391|346399|346400|353445|402121|402165|402168|422177|468353|494104|513137|531696|536941|571243|571246|571582|574506|580260|580351|584421|586651|614440|614441|646141|646142|646143|771607|845551|845552|845553|845554|845555|845556|845557|845558|845559|845560|845561|845562|877850|877851|877852|877853|877854|877855|877856|877857|877858|877859|877860|877861|877862|877863|877864|877865|877866|928359|938003|938004|938005|949995|958152|958153|964484", "text": "Pyridoxal phosphate-responsive seizures" }, { - "baseId": "21566|21567|21568|21569|21572|21573|21580|21589|39304|204424|204641|251054|251061|251063|268855|271227|289676|289677|289681|289691|289697|289699|289708|289709|290445|290446|290447|290448|290449|290457|290469|290477|290479|290480|290481|290482|290484|293524|293534|293535|293536|293537|293549|293550|293557|293558|293559|293560|293564|293565|294092|294093|294094|294095|294096|294099|294103|294107|294112|294113|294122|294127|294128|294131|294132|294133|294134|294143|452004|489133|585757|620762|623592|677313|697986|733957|744043|790371|790372|790373|888497|888498|888499|888500|888501|888502|888503|888504|888505|888506|888507|888508|888509|888510|888511|888512|888513|888514|888515|888516|888517|888518|888519|888520|888521|888522|888523|888524|888525", + "upstreamId": "21566|21567|21568|21569|21572|21573|21580|21589|39304|204424|204641|251054|251061|251063|268855|271227|289676|289677|289681|289691|289697|289699|289708|289709|290445|290446|290447|290448|290449|290457|290469|290477|290479|290480|290481|290482|290484|293524|293534|293535|293536|293537|293549|293550|293557|293558|293559|293560|293564|293565|294092|294093|294094|294095|294096|294099|294103|294107|294112|294113|294122|294127|294128|294131|294132|294133|294134|294143|452004|489133|585757|620762|623592|677313|697986|733957|744043|790371|790372|790373|888497|888498|888499|888500|888501|888502|888503|888504|888505|888506|888507|888508|888509|888510|888511|888512|888513|888514|888515|888516|888517|888518|888519|888520|888521|888522|888523|888524|888525", "text": "Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3" }, { - "baseId": "21566|21567|21572|21573|21575|21579|193526|204424|251054|251061|251063|264162|268855|271227|289676|289677|289681|289691|289693|289697|289699|289708|289709|289714|290445|290446|290447|290448|290449|290450|290457|290469|290472|290477|290479|290480|290481|290482|290484|290485|290486|293524|293534|293535|293536|293537|293545|293548|293549|293550|293557|293558|293559|293560|293564|293565|294092|294093|294094|294095|294096|294099|294103|294107|294112|294113|294122|294127|294128|294131|294132|294133|294134|294143|294144|353647|359504|367331|452004|452361|489133|519041|519219|559409|559411|561312|561322|562627|562628|562630|585757|620762|631112|631113|631114|631115|631116|631117|631118|631119|651044|697986|733957|744043|748148|827778|827779|888497|888498|888499|888500|888501|888502|888503|888504|888505|888506|888507|888508|888509|888510|888511|888512|888513|888514|888515|888516|888517|888518|888519|888520|888521|888522|888523|888524|888525|931856", + "upstreamId": "21566|21567|21572|21573|21575|21579|193526|204424|251054|251061|251063|264162|268855|271227|289676|289677|289681|289691|289693|289697|289699|289708|289709|289714|290445|290446|290447|290448|290449|290450|290457|290469|290472|290477|290479|290480|290481|290482|290484|290485|290486|293524|293534|293535|293536|293537|293545|293548|293549|293550|293557|293558|293559|293560|293564|293565|294092|294093|294094|294095|294096|294099|294103|294107|294112|294113|294122|294127|294128|294131|294132|294133|294134|294143|294144|353647|359504|367331|452004|452361|489133|519041|519219|559409|559411|561312|561322|562627|562628|562630|585757|620762|631112|631113|631114|631115|631116|631117|631118|631119|651044|697986|733957|744043|748148|827778|827779|888497|888498|888499|888500|888501|888502|888503|888504|888505|888506|888507|888508|888509|888510|888511|888512|888513|888514|888515|888516|888517|888518|888519|888520|888521|888522|888523|888524|888525|931856", "text": "TP63-Related Spectrum Disorders" }, { - "baseId": "21570|21571|21588|80708", + "upstreamId": "21570|21571|21588|80708", "text": "Split-hand/foot malformation 4" }, { - "baseId": "21572|21581|21582|21583|21584|21590|21592|798526", + "upstreamId": "21572|21581|21582|21583|21584|21590|21592|798526", "text": "Rapp-Hodgkin ectodermal dysplasia syndrome" }, { - "baseId": "21574|21575|21583", + "upstreamId": "21574|21575|21583", "text": "Hay-Wells syndrome of ectodermal dysplasia" }, { - "baseId": "21576|21579|21585|21586|21587|21589|21591|47571|47572|204361", + "upstreamId": "21576|21579|21585|21586|21587|21589|21591|47571|47572|204361", "text": "ADULT syndrome" }, { - "baseId": "21577|21578|918821", + "upstreamId": "21577|21578|918821", "text": "Limb-mammary syndrome" }, { - "baseId": "21586|251054|251061|251063|268855|271227|289676|289677|289681|289691|289697|289699|289708|289709|290445|290446|290447|290448|290449|290457|290469|290477|290479|290480|290481|290482|290484|293524|293534|293535|293536|293537|293549|293550|293557|293558|293559|293560|293564|293565|294092|294093|294094|294095|294096|294099|294103|294107|294112|294113|294122|294127|294128|294131|294132|294133|294134|294143|489133|576317|585757|620762|697986|733957|744043|888497|888498|888499|888500|888501|888502|888503|888504|888505|888506|888507|888508|888509|888510|888511|888512|888513|888514|888515|888516|888517|888518|888519|888520|888521|888522|888523|888524|888525", + "upstreamId": "21586|251054|251061|251063|268855|271227|289676|289677|289681|289691|289697|289699|289708|289709|290445|290446|290447|290448|290449|290457|290469|290477|290479|290480|290481|290482|290484|293524|293534|293535|293536|293537|293549|293550|293557|293558|293559|293560|293564|293565|294092|294093|294094|294095|294096|294099|294103|294107|294112|294113|294122|294127|294128|294131|294132|294133|294134|294143|489133|576317|585757|620762|697986|733957|744043|888497|888498|888499|888500|888501|888502|888503|888504|888505|888506|888507|888508|888509|888510|888511|888512|888513|888514|888515|888516|888517|888518|888519|888520|888521|888522|888523|888524|888525", "text": "Orofacial cleft 8" }, { - "baseId": "21592", + "upstreamId": "21592", "text": "Ankyloblepharon-ectodermal defects, cleft lip/palate" }, { - "baseId": 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"text": "Rhabdoid tumor predisposition syndrome 2" }, { - "baseId": "21594|21595|21597|23420|38568|49383|215305|268158|294669|294674|294679|296235|299981|299982|434595|434595|439689|454054|632528|632529|632530|632531|691640|698695|829538|892543", + "upstreamId": "21594|21595|21597|23420|38568|49383|215305|268158|294669|294674|294679|296235|299981|299982|434595|434595|439689|454054|632528|632529|632530|632531|691640|698695|829538|892543", "text": "Brachydactyly type A2" }, { - "baseId": "21596|213897|213898|213899|215305|268158|294669|294674|294679|296235|299981|299982|434595|439689|454054|632528|632529|632530|632531|677290|691640|698695|829538|892543", + "upstreamId": "21596|213897|213898|213899|215305|268158|294669|294674|294679|296235|299981|299982|434595|439689|454054|632528|632529|632530|632531|677290|691640|698695|829538|892543", "text": "Acromesomelic dysplasia, Demirhan type" }, { - "baseId": 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+ "upstreamId": "21598|21598|21599|21599|21600|21601|21602|21603|21605|21607|21608|21609|21610|21610|21611|21612|21613|21615|21616|21617|21618|21618|21619|21620|39293|39294|39295|39295|152837|152838|191634|205179|260084|260085|260086|260087|260087|260088|265406|265507|275332|275332|360154|360156|360232|374005|374017|374701|374707|375075|375082|375085|377100|377106|377108|377116|377120|390275|409463|409464|409466|415471|415472|422075|426774|426775|426776|426777|426778|426779|426780|426781|426782|426783|426784|426785|426786|426787|426788|426789|426790|426791|426792|426793|426794|426795|426796|426797|426798|426799|426800|426801|426802|426803|426804|426805|426806|426807|426808|426809|426810|426811|426812|426813|426814|426815|426816|426817|426818|426819|426820|426821|426822|426823|426824|426825|426826|426827|426828|426829|426830|426831|426832|426833|426834|426835|426836|426837|426838|426839|426840|426841|426842|426843|426844|426845|426846|426847|426848|426849|426851|426852|426853|426854|426855|426856|426857|426858|426859|426860|426861|426862|426863|426864|426865|426866|426867|426868|426869|426870|426871|426872|426873|426874|426875|426876|426877|426878|426879|426880|426881|426882|426883|426884|426885|426886|426887|426888|426889|426890|426891|426892|426893|426895|426896|426897|426898|426899|426900|426901|426902|426903|426904|426905|426907|426908|426909|426910|426911|426912|426913|426914|426915|426916|426917|426918|426919|426920|426921|426922|426923|426924|426925|426926|426927|426928|426929|426930|426931|426932|426933|426934|426935|426936|426937|426938|426939|426940|426941|426942|426943|426944|426945|426946|426947|426948|426949|426950|426951|426952|426953|426954|426955|426956|426957|426958|426959|426960|426961|426962|426963|426964|426965|426966|426967|426968|426969|426970|426971|426972|426973|426974|426975|426977|426978|426979|426980|426981|426982|426983|426984|426985|426986|426987|426988|426989|426990|426991|426992|426993|426994|426995|426996|426997|426998|426999|427000|427001|427002|427003|427004|427005|427006|427007|427008|427009|427010|427011|427012|427013|427014|427015|427016|427017|427018|427019|427020|427021|427022|427023|427024|427025|427026|427027|427028|427029|427030|427031|427032|427033|427034|427035|427036|427037|427038|427039|427040|427041|427042|427043|427044|427045|427046|427047|427048|427049|427050|427051|427052|427053|427054|427055|427056|427057|427058|427059|427060|427061|427062|427063|427064|427065|427066|427067|427068|427069|427070|427071|427072|427073|427074|427075|427076|427077|427078|427079|427080|427081|427082|427083|427085|427087|427088|427089|427090|427091|427092|427093|427094|427095|427096|427097|427098|427099|437673|569572|590735|626255|791526|791527|800599|800600|861061", "text": "Pseudoxanthoma elasticum" }, { - "baseId": "21598|21598|21599|21599|21603|21610|21613|21618|39293|39294|39295|39296|260087|275332|426970|427040|858595|919611|919612", + "upstreamId": "21598|21598|21599|21599|21603|21610|21613|21618|39293|39294|39295|39296|260087|275332|426970|427040|858595|919611|919612", "text": "Generalized arterial calcification of infancy 2" }, { - "baseId": "21598", + "upstreamId": "21598", "text": "Papule" }, { - "baseId": "21598|21599|21610|21618|39295|260087|275332|426954", + "upstreamId": "21598|21599|21610|21618|39295|260087|275332|426954", "text": "Pseudoxanthoma elasticum, forme fruste" }, { - "baseId": "21622|21623|250955|288822|288826|288836|288838|288839|288850|289598|289599|289602|289603|292587|292588|292590|292591|292593|292799|292800|292801|292802|292806|292811|452207|452324|620106|630957|630958|759103|827566|888018|888019|888020|888021|888022|888023|888024|888025|888026|888027|888028|891572", + "upstreamId": "21622|21623|250955|288822|288826|288836|288838|288839|288850|289598|289599|289602|289603|292587|292588|292590|292591|292593|292799|292800|292801|292802|292806|292811|452207|452324|620106|630957|630958|759103|827566|888018|888019|888020|888021|888022|888023|888024|888025|888026|888027|888028|891572", "text": "Cataract 12, multiple types" }, { - "baseId": "21624", + "upstreamId": "21624", "text": "Snowflake vitreoretinal degeneration" }, { - "baseId": "21625|21626|21627|71026|71027|71028|71029|71030|71031|71032|281844|281846|281847|281851|281852|281858|281859|281860|281866|281867|281872|281877|281878|281882|281883|281884|281888|281889|282500|282503|282506|282507|282508|282509|282510|282512|282513|282514|282521|282524|282525|284144|284145|284150|284151|284152|284154|284157|284158|284161|284162|284165|284166|284168|284181|284187|284357|284362|284368|284372|284373|284374|284375|284376|284379|284380|284384|284388|284389|284428|284435|620031|719256|719257|719258|732769|881066|881067|881068|881069|881070|881071|881072|881073|881074|881075|881076|881077|881078|881079|881080|881081|881082|881083|881084|881085|881086|881087|881088|881089|881090|881091|881092|881093|881094|881095|881096|881097|881098|881099|881100|881101|881102|881103|881104|881105|882797|882798|882799|882800|882801", + "upstreamId": "21625|21626|21627|71026|71027|71028|71029|71030|71031|71032|281844|281846|281847|281851|281852|281858|281859|281860|281866|281867|281872|281877|281878|281882|281883|281884|281888|281889|282500|282503|282506|282507|282508|282509|282510|282512|282513|282514|282521|282524|282525|284144|284145|284150|284151|284152|284154|284157|284158|284161|284162|284165|284166|284168|284181|284187|284357|284362|284368|284372|284373|284374|284375|284376|284379|284380|284384|284388|284389|284428|284435|620031|719256|719257|719258|732769|881066|881067|881068|881069|881070|881071|881072|881073|881074|881075|881076|881077|881078|881079|881080|881081|881082|881083|881084|881085|881086|881087|881088|881089|881090|881091|881092|881093|881094|881095|881096|881097|881098|881099|881100|881101|881102|881103|881104|881105|882797|882798|882799|882800|882801", "text": "Congenital lactase deficiency" }, { - "baseId": "21628|21629|21630|21631|21632|21633|21635|22310|190825|191377|191546|191667|191668|192005|192911|193125|194380|237083|250355|250356|250358|250361|250362|250363|250364|250366|250368|250369|250370|250371|266117|268530|268784|268874|268874|268960|270804|270936|272709|272792|272963|273360|273775|274050|274211|274318|274318|275088|275488|275527|282606|282611|282620|282625|282628|283360|283362|283363|283364|283365|283382|283385|283387|283407|284894|284906|284914|284915|284916|285408|285410|285412|285414|285416|285425|285432|285442|365697|365952|365959|366177|404753|405418|427939|489030|489226|491881|493332|494028|499135|499173|578392|585693|585991|586447|587291|587589|612260|614129|623130|707836|732908|732909|743837|762388|762393|762400|780940|780941|787109|790126|792722|851356|881406|881407|881408|881409|881410|881411|881412|881413|881414|881415|881416|881417|881418|881419|881420|881421|881422|881423|881424|881425|881426|881427|881428|881429|881430|882827|882828|882829|882830|977634|977635|977636|977637|977638|977639|977640|977641", + "upstreamId": "21628|21629|21630|21631|21632|21633|21635|22310|190825|191377|191546|191667|191668|192005|192911|193125|194380|237083|250355|250356|250358|250361|250362|250363|250364|250366|250368|250369|250370|250371|266117|268530|268784|268874|268874|268960|270804|270936|272709|272792|272963|273360|273775|274050|274211|274318|274318|275088|275488|275527|282606|282611|282620|282625|282628|283360|283362|283363|283364|283365|283382|283385|283387|283407|284894|284906|284914|284915|284916|285408|285410|285412|285414|285416|285425|285432|285442|365697|365952|365959|366177|404753|405418|427939|489030|489226|491881|493332|494028|499135|499173|578392|585693|585991|586447|587291|587589|612260|614129|623130|707836|732908|732909|743837|762388|762393|762400|780940|780941|787109|790126|792722|851356|881406|881407|881408|881409|881410|881411|881412|881413|881414|881415|881416|881417|881418|881419|881420|881421|881422|881423|881424|881425|881426|881427|881428|881429|881430|882827|882828|882829|882830|977634|977635|977636|977637|977638|977639|977640|977641", "text": "Progressive familial intrahepatic cholestasis 2" }, { - "baseId": "21629|21634|268874|270936|270936|272792|274318|404753|513515", + "upstreamId": "21629|21634|268874|270936|270936|272792|274318|404753|513515", "text": "Benign recurrent intrahepatic cholestasis type 2" }, { - "baseId": "21629|284897|284910|285433|331904|331926|331942|342158|347528|347530|347531|348905|348908|915059", + "upstreamId": "21629|284897|284910|285433|331904|331926|331942|342158|347528|347530|347531|348905|348908|915059", "text": "Progressive familial intrahepatic cholestasis" }, { - "baseId": 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"text": "Bare lymphocyte syndrome 2" }, { - "baseId": "21640|21641|21642|21643|39283|39284|39285|39286|135502|135503|190523|190525|192448|208397|328485|328487|328490|328491|328497|328498|328500|328504|328508|328510|338432|338440|338441|338443|338447|344512|344514|344515|344517|344519|344522|344526|344535|345916|345919|345920|345925|345927|345928|429966|877526|877527|877528|877529|877530|877531|877532|877533|877534|877535|877536|877537|877538|877539|877540|877541|877542|877543|877544|877545|877546|877547|877548|877549|877550|877551|877552|970241", + "upstreamId": 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+ "upstreamId": "21644|21645|21646|106808|106809|135423|135424|135425|181591|237315|243559|243560|243561|243563|243564|243565|243566|243566|243567|243568|243569|243570|243571|243572|265656|268458|268460|334694|334696|334697|334698|334700|334701|334704|334708|334712|334714|334717|334720|334727|344523|344524|344527|344529|344531|344534|349561|349562|349566|349567|349568|349571|349572|350567|350570|350573|350576|350580|350581|350582|350584|350585|353531|353532|360448|376886|377874|377887|377902|377907|377908|378159|378165|384524|403594|403637|403643|404125|404143|404148|410723|413493|415672|439254|442260|469306|469311|470260|470833|470835|471327|471329|471331|471333|471336|471338|507061|507067|507191|507192|508009|508016|533414|533415|533416|533442|533959|538490|571107|572825|572827|573425|573426|573428|573430|573431|573432|573434|575066|577829|577830|582313|620650|620651|648520|648521|648522|648523|648524|648525|653084|684855|684856|684858|684859|685466|685467|689162|689163|689164|689165|689166|689167|689169|689170|689171|689174|690233|694519|694520|694521|705334|731319|742205|772974|798760|848131|848132|848133|848134|848135|848136|848137|848138|848139|848140|848141|848142|848143|848144|848145|848146|848147|848148|848149|848150|848151|848152|848153|848154|848155|848156|848157|851836|852358|852359|852894|852994|882691|882695|882696|882697|882698|882699|882700|882701|882702|882703|882704|882705|882706|882707|882708|882709|882710|882711|882712|882713|882714|882715|882716|882717|882718|882719|882720|882721|882722|882723|882724|882725|882726|882727|882728|882964|882965|882966|882967|882968|882969|882970|929124|929125|929126|929127|929128|929129|938879|938880|938881|938882|938883|938884|938885|938886|938887|938888|938889|938890|938891|938892|938893|938894|950951|950952|950953|950954|950955|950956|950957|950958|950959|950960|950961|950962|950963|958758|958759|958760|958761|958762|958763|960304|960305|960306", "text": "Hereditary spastic paraplegia 39" }, { - "baseId": "21646|106806|181590|181591|181592|243566|538490", + "upstreamId": "21646|106806|181590|181591|181592|243566|538490", "text": "Trichomegaly-retina pigmentary degeneration-dwarfism syndrome" }, { - "baseId": "21646|181593|243566|538490", + "upstreamId": "21646|181593|243566|538490", "text": "Laurence-Moon syndrome" }, { - "baseId": "21646", + "upstreamId": "21646", "text": "PNPLA6-related disorders" }, { - "baseId": "21647|21648|21649|21650|21651|21652|21653|21654|21655|176083|194388|230518|230519|230520|230521|230522|230523|230524|230525|237616|266218|266380|320412|320413|329160|329162|329166|329169|335768|335769|335773|337582|337583|337584|491561|513618|802077|871774|871775|871776|871777|871778|871779|871780|871781|871782|871783|871784|871785|871786|871787|871788|871789|871790|871791", + "upstreamId": "21647|21648|21649|21650|21651|21652|21653|21654|21655|176083|194388|230518|230519|230520|230521|230522|230523|230524|230525|237616|266218|266380|320412|320413|329160|329162|329166|329169|335768|335769|335773|337582|337583|337584|491561|513618|802077|871774|871775|871776|871777|871778|871779|871780|871781|871782|871783|871784|871785|871786|871787|871788|871789|871790|871791", "text": "Deafness, autosomal dominant 9" }, { - "baseId": "21656|204349|204350|204351|204352|321265|321269|321271|321275|321276|321277|330470|330472|330473|330475|330476|330477|330479|336984|336985|336989|336996|337003|337005|337007|337015|338925|338930|338934|338935|338938|338940|338941|338946|338947|513623|620486|620487|620861|725791|784776|860122|872465|872466|872467|872468|872469|872470|872471|872472|872473|872474|872475|872476|872477|872478|872479|872480|872481|872482|872483|872484|872485|872486|872487|872488|872489|872490|872491|872492|872493|872494|872495|872496|872497|872498|872499|872500|872501|872502|872503|872504|872505|872506|872507|872508|872509|872510|872511|872512|872513|872514|872515|872516|872517|872518|872519|872520|872521|876438|876439|904110", + "upstreamId": "21656|204349|204350|204351|204352|321265|321269|321271|321275|321276|321277|330470|330472|330473|330475|330476|330477|330479|336984|336985|336989|336996|337003|337005|337007|337015|338925|338930|338934|338935|338938|338940|338941|338946|338947|513623|620486|620487|620861|725791|784776|860122|872465|872466|872467|872468|872469|872470|872471|872472|872473|872474|872475|872476|872477|872478|872479|872480|872481|872482|872483|872484|872485|872486|872487|872488|872489|872490|872491|872492|872493|872494|872495|872496|872497|872498|872499|872500|872501|872502|872503|872504|872505|872506|872507|872508|872509|872510|872511|872512|872513|872514|872515|872516|872517|872518|872519|872520|872521|876438|876439|904110", "text": "Methylmalonate semialdehyde dehydrogenase deficiency" }, { - "baseId": "21657|192358|252146|252150|273781|275516|299207|299214|299222|299224|299228|299230|299234|299235|301636|306038|306041|306043|306044|306045|306051|306052|306053|306066|306315|306316|306319|306322|306324|492855|619943|895479|895480|895481|895482|895483|895484|895485|895486|895487|895488|895489|895490|895491|895492|895493|895494|896200|961772", + "upstreamId": "21657|192358|252146|252150|273781|275516|299207|299214|299222|299224|299228|299230|299234|299235|301636|306038|306041|306043|306044|306045|306051|306052|306053|306066|306315|306316|306319|306322|306324|492855|619943|895479|895480|895481|895482|895483|895484|895485|895486|895487|895488|895489|895490|895491|895492|895493|895494|896200|961772", "text": "Peroxisome biogenesis disorder 10A" }, { - "baseId": "21659|590481", + "upstreamId": "21659|590481", "text": "Choanal atresia and lymphedema" }, { - "baseId": "21660|22017|22089|27617|27621|28696|29000|29006|29008|29010|29020|31648|31652|31848|34064|38760|38762|48817|53966|53978|54386|54403|54438|54447|54449|54464|133516|174230|205383|205384|311469|359646|359799|362828|362829|363583|363619|552584|575761|575763|575766|575769|575773|575779|615885|790727|790728|790729|790730|790731|790732|790733|790734|790735|790736|790737|971294", + "upstreamId": "21660|22017|22089|27617|27621|28696|29000|29006|29008|29010|29020|31648|31652|31848|34064|38760|38762|48817|53966|53978|54386|54403|54438|54447|54449|54464|133516|174230|205383|205384|311469|359646|359799|362828|362829|363583|363619|552584|575761|575763|575766|575769|575773|575779|615885|790727|790728|790729|790730|790731|790732|790733|790734|790735|790736|790737|971294", "text": "Lung carcinoma" }, { - "baseId": "21661|21662", + "upstreamId": "21661|21662", "text": "Anaphylotoxin inactivator deficiency" }, { - "baseId": "21663|21664|21665|21666|21667|21668|21669|21670|21671|133737|133739|207659|207660|253484|266583|307660|307661|307663|307664|307676|307685|307687|307689|307690|307694|307696|311906|311915|311924|311925|311932|311943|317485|317488|317498|317516|317517|317518|317521|317524|317544|317995|317996|318011|318012|318017|318018|318019|318024|318029|318031|318032|318039|359009|359010|359011|359012|359013|359014|359015|359016|359017|359018|359019|359027|361196|361197|380242|380246|492918|540478|540479|624154|723471|737029|788834|901548|901549|901550|901551|901552|901553|901554|901555|901556|901557|901558|901559|901560|901561|901562|901563|901564|901565|901566|901567|901568|901569|901570|901571|903355", + "upstreamId": "21663|21664|21665|21666|21667|21668|21669|21670|21671|133737|133739|207659|207660|253484|266583|307660|307661|307663|307664|307676|307685|307687|307689|307690|307694|307696|311906|311915|311924|311925|311932|311943|317485|317488|317498|317516|317517|317518|317521|317524|317544|317995|317996|318011|318012|318017|318018|318019|318024|318029|318031|318032|318039|359009|359010|359011|359012|359013|359014|359015|359016|359017|359018|359019|359027|361196|361197|380242|380246|492918|540478|540479|624154|723471|737029|788834|901548|901549|901550|901551|901552|901553|901554|901555|901556|901557|901558|901559|901560|901561|901562|901563|901564|901565|901566|901567|901568|901569|901570|901571|903355", "text": "Congenital generalized lipodystrophy type 1" }, { - "baseId": "21676|21677|21678|21679|21680|39254|76395|76396|76400|193608|199799|254874|254876|254878|384627|384628|384629|384631|429512|463710|463965|508882|536082|553157|566185|642065|642066|688185|693399|702755|702756|739106|739110|799753|799754|820592|841014|919501|919502|919503|926952|926953|948421|948422|957141|957142", + "upstreamId": "21676|21677|21678|21679|21680|39254|76395|76396|76400|193608|199799|254874|254876|254878|384627|384628|384629|384631|429512|463710|463965|508882|536082|553157|566185|642065|642066|688185|693399|702755|702756|739106|739110|799753|799754|820592|841014|919501|919502|919503|926952|926953|948421|948422|957141|957142", "text": "Holoprosencephaly 5" }, { - "baseId": "21682|21683|227305|433842|433846|433847|433848|433852|433853|537511|609638|612432|612766|699713|722207|903547", + "upstreamId": "21682|21683|227305|433842|433846|433847|433848|433852|433853|537511|609638|612432|612766|699713|722207|903547", "text": "Bone fragility with contractures, arterial rupture, and deafness" }, { - "baseId": "21684|21685|21686|44138|167558|167559|167560|167561|215228|273666|283016|283023|283027|283028|283029|283033|283035|283044|283045|283046|283047|283052|283065|283070|283080|283081|283102|283109|283110|283118|283119|283120|283129|283130|283137|283138|283140|283142|283846|283848|283849|283850|283852|283854|283865|283869|283870|283876|283878|283879|285508|285512|285526|285527|285528|285531|285533|285552|285559|285561|285563|285569|285581|285584|285587|285588|285606|285617|285907|285909|285914|285930|285931|285936|285937|285939|285942|285965|285979|285980|285983|285984|286012|286013|286028|286046|549542|707864|732965|746964|746966|746967|762437|762440|762441|780976|799243|881660|881661|881662|881663|881664|881665|881666|881667|881668|881669|881670|881671|881672|881673|881674|881675|881676|881677|881678|881679|881680|881681|881682|881683|881684|881685|881686|881687|881688|881689|881690|881691|881692|881693|881694|881695|881696|881697|881698|882858|981348", + "upstreamId": "21684|21685|21686|44138|167558|167559|167560|167561|215228|273666|283016|283023|283027|283028|283029|283033|283035|283044|283045|283046|283047|283052|283065|283070|283080|283081|283102|283109|283110|283118|283119|283120|283129|283130|283137|283138|283140|283142|283846|283848|283849|283850|283852|283854|283865|283869|283870|283876|283878|283879|285508|285512|285526|285527|285528|285531|285533|285552|285559|285561|285563|285569|285581|285584|285587|285588|285606|285617|285907|285909|285914|285930|285931|285936|285937|285939|285942|285965|285979|285980|285983|285984|286012|286013|286028|286046|549542|707864|732965|746964|746966|746967|762437|762440|762441|780976|799243|881660|881661|881662|881663|881664|881665|881666|881667|881668|881669|881670|881671|881672|881673|881674|881675|881676|881677|881678|881679|881680|881681|881682|881683|881684|881685|881686|881687|881688|881689|881690|881691|881692|881693|881694|881695|881696|881697|881698|882858|981348", "text": "Rhizomelic chondrodysplasia punctata type 3" }, { - "baseId": 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"text": "Endplate acetylcholinesterase deficiency" }, { - "baseId": "21697|21698", + "upstreamId": "21697|21698", "text": "Legionellosis" }, { - "baseId": "21697", + "upstreamId": "21697", "text": "Systemic lupus erythematosus, resistance to, 1" }, { - "baseId": "21697", + "upstreamId": "21697", "text": "Melioidosis, resistance to" }, { - "baseId": "21699|21700", + "upstreamId": "21699|21700", "text": "TLR4 POLYMORPHISM" }, { - "baseId": "21701|49908|486804|486805|486808|486809", + "upstreamId": "21701|49908|486804|486805|486808|486809", "text": "Herpes simplex encephalitis 2" }, { - "baseId": "21702|980453", + "upstreamId": "21702|980453", "text": "Leprosy 3" }, { - "baseId": "21704|21706|21707|21710|21712|21713|21714|21714|21715|21718|21721|21724|100162|100191|100191|100205|100248|192910|213808|259743|259744|267122|268491|437659|443289|518525|542336|608904|672039|677130|822324|931561|961663|971805|971806|971807|971808|971809|971810|971811|971812|971813|971814|971815|971816|971817|971818|971819|971820|971821|971822|971823|971824|971825|971826|971827|971828|971829|971830|971831|971832|971833|971834|971835|971836|971837|971838|971839|971840|971841|971842", + "upstreamId": "21704|21706|21707|21710|21712|21713|21714|21714|21715|21718|21721|21724|100162|100191|100191|100205|100248|192910|213808|259743|259744|267122|268491|437659|443289|518525|542336|608904|672039|677130|822324|931561|961663|971805|971806|971807|971808|971809|971810|971811|971812|971813|971814|971815|971816|971817|971818|971819|971820|971821|971822|971823|971824|971825|971826|971827|971828|971829|971830|971831|971832|971833|971834|971835|971836|971837|971838|971839|971840|971841|971842", "text": "Miyoshi muscular dystrophy 1" }, { - "baseId": "21705|21714|21715|100162|100186|100191|100205|100248|192910|213808|226470|259744|267122|268491|443289|492464|518525|542336|672039|802142|822324|931561|961663|971805|971806|971807|971808|971809|971810|971811|971812|971813|971814|971815|971816|971817|971818|971819|971820|971821|971822|971823|971824|971825|971826|971827|971828|971829|971830|971831|971832|971833|971834|971835|971836|971837|971838|971839|971840|971841|971842", + "upstreamId": "21705|21714|21715|100162|100186|100191|100205|100248|192910|213808|226470|259744|267122|268491|443289|492464|518525|542336|672039|802142|822324|931561|961663|971805|971806|971807|971808|971809|971810|971811|971812|971813|971814|971815|971816|971817|971818|971819|971820|971821|971822|971823|971824|971825|971826|971827|971828|971829|971830|971831|971832|971833|971834|971835|971836|971837|971838|971839|971840|971841|971842", "text": "Myopathy, distal, with anterior tibial onset" }, { - "baseId": 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+ "upstreamId": 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"text": "Qualitative or quantitative defects of dysferlin" }, { - "baseId": 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"text": "Autosomal recessive limb-girdle muscular dystrophy type 2B" }, { - "baseId": "21706|100178|272053|274332", + "upstreamId": "21706|100178|272053|274332", "text": "DYSF-Related Disorders" }, { - "baseId": "21725|21726|21727|48241|48242|48243|48244|48245|205163|267233|267602|271833|491702|525489|525577|564850|566551|566552|639260|639261|701456|701457|712499|712500|779510|837409|919301|947116|956263", + "upstreamId": "21725|21726|21727|48241|48242|48243|48244|48245|205163|267233|267602|271833|491702|525489|525577|564850|566551|566552|639260|639261|701456|701457|712499|712500|779510|837409|919301|947116|956263", "text": "Spondyloepimetaphyseal dysplasia, pakistani type" }, { - "baseId": 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"text": "Imerslund-Gr\u00e4sbeck syndrome" }, { - "baseId": 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+ "upstreamId": 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"text": "Imerslund-Gr\u00e4sbeck syndrome 1" }, { - "baseId": "21730|21731|21733|21734|21736|21738|21739|21742|362070|590326", + "upstreamId": "21730|21731|21733|21734|21736|21738|21739|21742|362070|590326", "text": "Symphalangism, proximal, 1A" }, { - "baseId": "21730|21735|21736|362070|362070", + "upstreamId": "21730|21735|21736|362070|362070", "text": "Tarsal-carpal coalition syndrome" }, { - "baseId": "21732|21740|21745|21746|39246|319166|319167|319210|327653|327662|327663|327688|333897|333898|333907|333929|333930|333940|333945|333973|335582|335592|335603|335621|335623|349927|362070|816042", + "upstreamId": "21732|21740|21745|21746|39246|319166|319167|319210|327653|327662|327663|327688|333897|333898|333907|333929|333930|333940|333945|333973|335582|335592|335603|335621|335623|349927|362070|816042", "text": "Symphalangism-brachydactyly syndrome" }, { - "baseId": "21741|21742|21747|362070", + "upstreamId": "21741|21742|21747|362070", "text": "Brachydactyly type B2" }, { - "baseId": "21742|21743|21744|362070|975714", + "upstreamId": "21742|21743|21744|362070|975714", "text": "Stapes ankylosis with broad thumb and toes" }, { - "baseId": "21748|21749|21750|210617|210618|277942|626098|961418", + "upstreamId": "21748|21749|21750|210617|210618|277942|626098|961418", "text": "Mitochondrial complex 1 deficiency, nuclear type 6" }, { - "baseId": "21751|21752|21753|21754|21755|21756|21757|21758|49648|138096|138097|138100|138104|138105|138106|138108|138109|139283|186096|212670|240614|240617|240618|240619|240621|253535|308258|308262|308266|308268|308269|312654|318554|318555|318558|318560|318570|318572|319060|319067|319075|319076|319080|396876|429014|438666|563228|563967|569012|578476|611355|612190|638231|836096|901976|901977|901978|901979|901980|901981|901982|901983|901984|901985|901986|901987|901988|901989|901990|901991|901992|903401|917990|917991|917992|917993|917994|917995|917996|917997|917998|917999|918001|918002|918003|918005|918006|918007|918008|918009|918010|918011|918012|918013|918014|918015|918016|918017|918018|918019|918021|918023|918024|918025|918026|918027|918028|918029|961956", + "upstreamId": "21751|21752|21753|21754|21755|21756|21757|21758|49648|138096|138097|138100|138104|138105|138106|138108|138109|139283|186096|212670|240614|240617|240618|240619|240621|253535|308258|308262|308266|308268|308269|312654|318554|318555|318558|318560|318570|318572|319060|319067|319075|319076|319080|396876|429014|438666|563228|563967|569012|578476|611355|612190|638231|836096|901976|901977|901978|901979|901980|901981|901982|901983|901984|901985|901986|901987|901988|901989|901990|901991|901992|903401|917990|917991|917992|917993|917994|917995|917996|917997|917998|917999|918001|918002|918003|918005|918006|918007|918008|918009|918010|918011|918012|918013|918014|918015|918016|918017|918018|918019|918021|918023|918024|918025|918026|918027|918028|918029|961956", "text": "Fanconi anemia, complementation group G" }, { - "baseId": "21751|21753|21754|21756|138096|138099|138100|138106|138108|138109|240614|240617|240618|240619|240621|253535|396874|396876|397463|438666|459458|460039|460042|563223|563965|638222|638226|638229|684097|684100|687493|689950|695438|836094|836098|978579", + "upstreamId": "21751|21753|21754|21756|138096|138099|138100|138106|138108|138109|240614|240617|240618|240619|240621|253535|396874|396876|397463|438666|459458|460039|460042|563223|563965|638222|638226|638229|684097|684100|687493|689950|695438|836094|836098|978579", "text": "Fanconi anemia group G" }, { - "baseId": "21760", + "upstreamId": "21760", "text": "Ventricular septal defect 2" }, { - "baseId": "21761|21762|792601", + "upstreamId": "21761|21762|792601", "text": "Atrial septal defect 8" }, { - "baseId": "21763", + "upstreamId": "21763", "text": "FAAH POLYMORPHISM" }, { - "baseId": "21764", + "upstreamId": "21764", "text": "Colorectal cancer 3" }, { - "baseId": "21765|21766|21767|21768|21769|21770|100016|100017|100018|132587|143047|143058|143059|168751|168752|168753|168754|189041|195318|196242|196242|202279|202287|202290|202297|202301|202320|202327|202328|202332|207613|264306|361912|362229|407533|407541|421698|428915|444351|458771|458775|481837|486612|488157|508833|513586|551300|552129|552130|552131|562736|581230|589818|611399|611714|613942|613943|790834|790835|790836|790837|790838|790839|790840|790841|798611|798612|800669|800915|801994|802049|802058|815840|858345|858346|858347|858591|859704|920585|961554|961612|962862|962869|964305|964306|964307|964308|964668|970408|970891|971377", + "upstreamId": 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"text": "Infantile epileptic dyskinetic encephalopathy" }, { - "baseId": "21769|168753|189041|195318|196242|202274|202282|202290|202297|202301|202306|202308|202311|202328|202332|259912|264301|264306|264460|369748|370220|372128|407533|407542|421588|444353|481837|495398|511783|536347|536759|961612|972835|972836|972849|972850|972945|972946|972947|972948|972949|972950|972951|972952|972953", + "upstreamId": "21769|168753|189041|195318|196242|202274|202282|202290|202297|202301|202306|202308|202311|202328|202332|259912|264301|264306|264460|369748|370220|372128|407533|407542|421588|444353|481837|495398|511783|536347|536759|961612|972835|972836|972849|972850|972945|972946|972947|972948|972949|972950|972951|972952|972953", "text": "Infantile epilepsy syndrome" }, { - "baseId": "21771", + "upstreamId": "21771", "text": "Glycerol release during exercise, defective" }, { - "baseId": "21772|21773|21774|21775|21776|21777|21778|21779|21780|21781|21782|21783|21784|335218|335220|335222|335228|335232|335240|335241|335243|335245|335250|335253|335256|335263|335271|335272|335273|345043|345044|345048|345049|345053|345056|345058|345060|345062|345066|345068|345075|345078|345086|345089|345091|345096|349857|349860|349861|349864|349865|349868|349870|349871|349872|349873|349879|349880|350872|350873|350876|350877|350880|350881|350884|350885|350888|350889|350892|350893|350896|350898|350899|410746|410747|446218|446219|470333|470335|470879|533486|533535|533540|533541|533542|533552|534058|575085|575086|575087|614473|648611|648612|648613|648614|648615|648616|648617|648620|648621|648623|648624|648626|648627|648628|648629|648630|653210|728599|742348|757446|757448|757452|760880|773069|788936|791978|800172|848287|848289|885982|885983|885984|885985|885986|885987|885988|885989|885990|885991|885992|885993|885994|885995|885996|885997|885998|885999|886000|886001|886002|886003|886004|886005|886006|886007|886008|886009|887450|887451|887452|887453", + "upstreamId": "21772|21773|21774|21775|21776|21777|21778|21779|21780|21781|21782|21783|21784|335218|335220|335222|335228|335232|335240|335241|335243|335245|335250|335253|335256|335263|335271|335272|335273|345043|345044|345048|345049|345053|345056|345058|345060|345062|345066|345068|345075|345078|345086|345089|345091|345096|349857|349860|349861|349864|349865|349868|349870|349871|349872|349873|349879|349880|350872|350873|350876|350877|350880|350881|350884|350885|350888|350889|350892|350893|350896|350898|350899|410746|410747|446218|446219|470333|470335|470879|533486|533535|533540|533541|533542|533552|534058|575085|575086|575087|614473|648611|648612|648613|648614|648615|648616|648617|648620|648621|648623|648624|648626|648627|648628|648629|648630|653210|728599|742348|757446|757448|757452|760880|773069|788936|791978|800172|848287|848289|885982|885983|885984|885985|885986|885987|885988|885989|885990|885991|885992|885993|885994|885995|885996|885997|885998|885999|886000|886001|886002|886003|886004|886005|886006|886007|886008|886009|887450|887451|887452|887453", "text": "Immunodeficiency-centromeric instability-facial anomalies syndrome 1" }, { - "baseId": "21773|243960|244090|609141|609142|672325|672326|672327|672328|672329|672330|672331|672332|729636|794150|794151|794152|794153|794154|798977|857360|980824|980825|980826|980827|980828|984051|984054|984055|984056|984058|984059|984060|984061", + "upstreamId": "21773|243960|244090|609141|609142|672325|672326|672327|672328|672329|672330|672331|672332|729636|794150|794151|794152|794153|794154|798977|857360|980824|980825|980826|980827|980828|984051|984054|984055|984056|984058|984059|984060|984061", "text": "Non-obstructive azoospermia" }, { - "baseId": "21785|79449", + "upstreamId": "21785|79449", "text": "Epileptic encephalopathy Lennox-Gastaut type" }, { - "baseId": "21786|513183|919845|965236", + "upstreamId": "21786|513183|919845|965236", "text": "Transposition of the great arteries, dextro-looped 3" }, { - "baseId": "21786|76323|513182", + "upstreamId": "21786|76323|513182", "text": "Bilateral right-sidedness sequence" }, { - "baseId": "21786|141158|181174|213449|222804|468595|469512|469947|469948|469951|469952|469955|469964|469965|470559|470562|470566|470567|513183|532788|532791|532796|532798|532862|532864|532866|532868|533229|533236|570619|572291|572298|572303|574919|574920|622454|647851|647852|647853|647854|647855|647856|647857|647858|647859|695816|704866|756849|756852|772534|772536|786119|789800|789801|789802|847455|847456|847457|847458|847459|852325|928900|928901|928902|938621|938622|938623|940478|950722|950723|950724|958580|958581", + "upstreamId": "21786|141158|181174|213449|222804|468595|469512|469947|469948|469951|469952|469955|469964|469965|470559|470562|470566|470567|513183|532788|532791|532796|532798|532862|532864|532866|532868|533229|533236|570619|572291|572298|572303|574919|574920|622454|647851|647852|647853|647854|647855|647856|647857|647858|647859|695816|704866|756849|756852|772534|772536|786119|789800|789801|789802|847455|847456|847457|847458|847459|852325|928900|928901|928902|938621|938622|938623|940478|950722|950723|950724|958580|958581", "text": "Epilepsy, progressive myoclonic 8" }, { - "baseId": "21788|70500|213449|222804|256844|256845|256846|259934|273238|280896|281031|290151|290162|290177|290178|290182|290211|290229|290231|290232|290955|290977|291011|291014|294038|294108|294180|294234|294266|294285|294286|294287|294288|294290|294576|294600|294624|315800|403213|403256|403257|403665|403706|468591|469493|469498|469505|470554|470557|532770|532771|532789|532858|532860|574918|647846|647847|647848|647849|647850|684784|847452|847453|847454|861285|950721|958579", + "upstreamId": "21788|70500|213449|222804|256844|256845|256846|259934|273238|280896|281031|290151|290162|290177|290178|290182|290211|290229|290231|290232|290955|290977|291011|291014|294038|294108|294180|294234|294266|294285|294286|294287|294288|294290|294576|294600|294624|315800|403213|403256|403257|403665|403706|468591|469493|469498|469505|470554|470557|532770|532771|532789|532858|532860|574918|647846|647847|647848|647849|647850|684784|847452|847453|847454|861285|950721|958579", "text": "Heterotaxia" }, { - "baseId": "21789|21790|21791|168536|168538|168539|207277|207280|214162|428464|508807|788783", + "upstreamId": "21789|21790|21791|168536|168538|168539|207277|207280|214162|428464|508807|788783", "text": "Pseudo-TORCH syndrome 1" }, { - "baseId": 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+ "upstreamId": "21793|21794|21795|21796|45341|45342|45343|45345|53747|54170|54171|54172|54173|54174|54175|54176|54177|54179|54180|54181|54182|54183|54185|54188|54190|54191|54192|54193|54195|54196|54197|54198|54199|54200|54202|54204|54205|54206|54207|54210|54214|54215|54216|54217|54218|54219|54220|54222|54223|54224|54227|54229|54230|54231|54232|54234|54235|54236|54237|54238|54239|54240|54241|54243|54244|54246|54247|54248|54250|54251|54252|54253|54254|54255|54256|54257|54259|54882|56311|56820|57054|89863|142394|142395|142396|142397|171150|171151|175721|175723|175724|175726|175728|175729|175730|175731|175861|175862|175863|175864|175866|175867|175869|175870|175871|177957|178655|186418|186421|186423|186425|186427|186430|186431|189909|189910|189911|193556|198383|198384|198385|198387|198389|198393|198398|198401|198402|198403|198406|198410|198414|198415|198416|198417|198418|198420|198421|198423|198425|198427|198430|198431|198433|198434|198436|198437|198438|198441|198442|198443|198445|198446|198448|198450|198451|198452|198454|198455|198458|222251|224448|230310|230312|230313|230314|230316|230317|230319|230320|230322|230323|241546|241547|241548|241549|241550|241551|248509|258751|260506|260508|260516|260528|260537|260539|260540|260542|260543|316928|316929|316934|316944|316945|316953|316954|324526|324551|324552|324554|324555|324556|324557|324563|324566|324569|324573|330718|330719|330727|330732|330743|330749|330750|330753|330767|330778|332116|332118|332121|332124|332128|332132|332141|332147|332167|332171|332175|361874|361875|372261|373007|373019|373215|373227|373229|373240|375083|390140|398511|398960|398962|398965|398966|398970|398978|398980|399126|399132|399138|399446|399448|399450|399453|399682|399684|399693|399694|399695|399698|399704|399705|399707|399709|399711|399712|408639|408642|408644|415332|425971|425973|437672|444980|444983|444988|461581|461784|462130|462133|462135|462137|462138|462139|462141|462386|462399|462402|462417|462424|462425|462430|462896|462901|462912|462913|462930|462931|462934|462937|463033|463039|463041|463043|463044|463048|482018|487338|487340|487343|487360|487365|497223|508872|508873|508874|508875|508876|510397|510398|510404|512854|512855|512931|512932|522209|522217|527107|527109|527114|527116|527117|527121|527124|527152|527154|527156|527369|527385|527386|527392|527393|527396|527400|527406|527612|527613|527616|565010|565428|565429|565434|565436|565438|565443|566286|566812|566814|566816|566823|566824|566827|567635|568001|568004|568005|568008|568010|568014|568020|568021|571154|571793|571809|571815|571818|571820|571822|571823|571826|571829|615047|615049|617900|617901|617904|617909|641079|641080|641081|641082|641083|641084|641085|641086|641087|641088|641089|641090|641091|641092|641093|641094|641095|641096|641097|641098|641099|641100|641101|641102|641103|652241|652381|652486|652645|676917|685379|687982|687983|687984|687985|695563|702297|738619|769098|784374|820494|820495|820496|820497|820498|820499|820500|820501|820502|839860|839861|839862|839863|839864|839865|839866|839867|839868|839869|839870|839871|839872|839873|839874|839875|839876|839877|839878|839879|869727|869728|869729|869730|869731|869732|869733|869734|869735|869736|869737|869738|869739|869740|872231|872232|911929|911931|911938|911947|911989|912006|912029|912034|912047|912060|912067|912076|919427|926611|926612|926613|926614|936095|936096|936097|936098|936099|936100|936101|936102|936103|936104|936105|936106|936107|936108|940264|940265|940266|947991|947992|947993|947994|947995|947996|947997|947998|947999|948000|956857|956858|956859|956860|956861|956862|960039|960040|960041|967197|967198|981791", "text": "Arrhythmogenic right ventricular dysplasia 9" }, { - "baseId": "21796|54194", + "upstreamId": "21796|54194", "text": "Arrhythmogenic ventricular cardiomyopathy" }, { - "baseId": "21796|176520|445196|569611|679869|858256", + "upstreamId": "21796|176520|445196|569611|679869|858256", "text": "Aborted sudden cardiac death" }, { - "baseId": "21797|21800|21801|21803|21804|21805|137503|137504|137506|137508|137511|137514|137516|137518|137521|226807|226808|242039|242040|242041|242042|255162|255166|255169|255170|400075|400082|400083|400084|400086|400090|400238|400242|400244|400250|400251|400563|400565|400570|400574|400578|400894|400896|400901|425300|429646|464178|464182|464183|464190|464191|464195|464202|464723|464726|464732|464734|464739|464740|464744|464745|464982|464987|464990|464994|464996|464997|465000|465001|465002|528731|528736|528742|528747|528761|528763|528804|528806|528809|528811|528816|529118|529125|529126|529130|529146|529147|529267|529268|529269|529272|529281|529282|529285|566996|567005|567007|568715|568717|568722|568730|568731|568736|568737|568738|568739|569202|569331|569332|569334|569337|569338|569346|569349|573222|573224|643127|643128|643129|643130|643131|643132|643133|643134|643135|643136|643137|643138|643139|643140|643141|643142|643143|643144|643145|643146|643147|643148|643149|643150|643151|643152|643153|643154|643155|652558|652728|688403|688404|688406|688410|688413|688414|690097|690098|693665|693666|693668|695638|695639|703149|703150|760157|778241|784900|784901|820690|842248|842249|842250|842251|842252|842253|842254|842255|842256|842257|842258|842259|842260|842261|842262|842263|842264|842265|842266|842267|842268|842269|842270|842271|842272|842273|842274|842275|842276|842277|842278|842279|842280|851607|851609|852035|927301|927302|927303|927304|927305|927306|927307|927308|936901|936902|936903|936904|936905|936906|936907|936908|936909|936910|936911|936912|936913|940326|941084|941085|948859|948860|948861|948862|948863|948864|948865|948866|948867|948868|957401|957402|957403|957404|960107", + "upstreamId": "21797|21800|21801|21803|21804|21805|137503|137504|137506|137508|137511|137514|137516|137518|137521|226807|226808|242039|242040|242041|242042|255162|255166|255169|255170|400075|400082|400083|400084|400086|400090|400238|400242|400244|400250|400251|400563|400565|400570|400574|400578|400894|400896|400901|425300|429646|464178|464182|464183|464190|464191|464195|464202|464723|464726|464732|464734|464739|464740|464744|464745|464982|464987|464990|464994|464996|464997|465000|465001|465002|528731|528736|528742|528747|528761|528763|528804|528806|528809|528811|528816|529118|529125|529126|529130|529146|529147|529267|529268|529269|529272|529281|529282|529285|566996|567005|567007|568715|568717|568722|568730|568731|568736|568737|568738|568739|569202|569331|569332|569334|569337|569338|569346|569349|573222|573224|643127|643128|643129|643130|643131|643132|643133|643134|643135|643136|643137|643138|643139|643140|643141|643142|643143|643144|643145|643146|643147|643148|643149|643150|643151|643152|643153|643154|643155|652558|652728|688403|688404|688406|688410|688413|688414|690097|690098|693665|693666|693668|695638|695639|703149|703150|760157|778241|784900|784901|820690|842248|842249|842250|842251|842252|842253|842254|842255|842256|842257|842258|842259|842260|842261|842262|842263|842264|842265|842266|842267|842268|842269|842270|842271|842272|842273|842274|842275|842276|842277|842278|842279|842280|851607|851609|852035|927301|927302|927303|927304|927305|927306|927307|927308|936901|936902|936903|936904|936905|936906|936907|936908|936909|936910|936911|936912|936913|940326|941084|941085|948859|948860|948861|948862|948863|948864|948865|948866|948867|948868|957401|957402|957403|957404|960107", "text": "Mosaic variegated aneuploidy syndrome" }, { - "baseId": "21797|21799|21800|21801|21802|21803|21804|21805|21806|21807|21808|39235|39648|137506|137516|137518|242041|242043|242044|400081|400088|400254|400579|400886|400891|400896|400898|429646|432425|528761|529267|791441|791442|791443", + "upstreamId": "21797|21799|21800|21801|21802|21803|21804|21805|21806|21807|21808|39235|39648|137506|137516|137518|242041|242043|242044|400081|400088|400254|400579|400886|400891|400896|400898|429646|432425|528761|529267|791441|791442|791443", "text": "Mosaic variegated aneuploidy syndrome 1" }, { - "baseId": "21799|21800|21801|21802|21803|21804|21805|21806|21807|21808|39235|137506|137516|137518|242041|400896|528761|529267", + "upstreamId": "21799|21800|21801|21802|21803|21804|21805|21806|21807|21808|39235|137506|137516|137518|242041|400896|528761|529267", "text": "Premature chromatid separation trait" }, { - "baseId": "21809|21811|21812|21813|21814|135329|135330|172123|172124|172125|172126|172126|194546|194546|194547|195048|249840|249841|249842|249843|249844|263985|268099|268558|271095|273980|280132|280133|280134|280137|280463|280466|280467|280469|280471|280473|280474|280479|280483|280485|280485|280503|281775|281776|281778|281780|281791|281804|281804|281805|281806|281810|281811|281812|281812|281924|281926|281935|281936|281940|281940|357074|489206|490261|491457|541019|541021|541033|541038|541040|541041|541123|541124|541126|541129|541140|541142|541143|541147|541149|541153|541156|541158|541160|541162|541164|541166|541171|541173|541178|541180|541183|549520|549522|589696|619995|696619|718838|823760|864157|864158|864159|864160|864161|864162|864163|864164|864165|864166|864167|864168|864169|864170|864171|864172|864173|864174|864175|864176|865165|865166|918623|962911", + "upstreamId": "21809|21811|21812|21813|21814|135329|135330|172123|172124|172125|172126|172126|194546|194546|194547|195048|249840|249841|249842|249843|249844|263985|268099|268558|271095|273980|280132|280133|280134|280137|280463|280466|280467|280469|280471|280473|280474|280479|280483|280485|280485|280503|281775|281776|281778|281780|281791|281804|281804|281805|281806|281810|281811|281812|281812|281924|281926|281935|281936|281940|281940|357074|489206|490261|491457|541019|541021|541033|541038|541040|541041|541123|541124|541126|541129|541140|541142|541143|541147|541149|541153|541156|541158|541160|541162|541164|541166|541171|541173|541178|541180|541183|549520|549522|589696|619995|696619|718838|823760|864157|864158|864159|864160|864161|864162|864163|864164|864165|864166|864167|864168|864169|864170|864171|864172|864173|864174|864175|864176|865165|865166|918623|962911", "text": "Peroxisome biogenesis disorder 6A" }, { - "baseId": "21809|21811|21813|172123|172124|172126|193749|194546|194547|195048|237148|249842|249843|268099|271095|273428|273980|280137|280483|280503|281791|281806|281810|281811|281812|489037|489206|489447|489532|490252|490261|490945|491457|492175|541021|541123|541160|549520|549522|585867|585868|589696|589789|696619|707248|718835|718838|746350|746353|746356|761802|761803|761804|774478|818947|818948|823757|823758|823759|823760|823761|823762|823763|823764|823765|823766|851291|864168|921941|921942|930418|930419|930420|941862|941863|941864|941865|941866|952354|952355|952356|952357|952358", + "upstreamId": "21809|21811|21813|172123|172124|172126|193749|194546|194547|195048|237148|249842|249843|268099|271095|273428|273980|280137|280483|280503|281791|281806|281810|281811|281812|489037|489206|489447|489532|490252|490261|490945|491457|492175|541021|541123|541160|549520|549522|585867|585868|589696|589789|696619|707248|718835|718838|746350|746353|746356|761802|761803|761804|774478|818947|818948|823757|823758|823759|823760|823761|823762|823763|823764|823765|823766|851291|864168|921941|921942|930418|930419|930420|941862|941863|941864|941865|941866|952354|952355|952356|952357|952358", "text": "Peroxisome biogenesis disorder, complementation group 7" }, { - "baseId": "21809|21810|21811|21811|21813|172122|172123|172123|172124|172124|172125|172125|172126|172126|194546|263985|280485|281791|281804|281812|281940|357074|442785|541019|541021|541033|541038|541040|541041|541123|541124|541126|541129|541140|541142|541143|541147|541149|541153|541156|541158|541160|541162|541164|541166|541171|541173|541178|541180|541183|858729", + "upstreamId": "21809|21810|21811|21811|21813|172122|172123|172123|172124|172124|172125|172125|172126|172126|194546|263985|280485|281791|281804|281812|281940|357074|442785|541019|541021|541033|541038|541040|541041|541123|541124|541126|541129|541140|541142|541143|541147|541149|541153|541156|541158|541160|541162|541164|541166|541171|541173|541178|541180|541183|858729", "text": "Peroxisome biogenesis disorder 6B" }, { - "baseId": "21809|21813|22556|28743|98687|98689|98690|98692|98693|98694|98696|98698|98745|99009|99015|99019|99021|135330|143213|177104|177929|186748|186749|186751|186754|186755|186758|190969|192238|194546|194547|214063|226048|249842|249843|252357|252359|252360|252362|252975|252976|252977|253177|266955|267046|268099|268900|269776|270590|270884|271095|271283|271736|271739|272493|272943|273434|274209|275181|280503|281791|281806|281810|303601|307373|307376|307381|307593|311974|315355|357588|357593|357597|357610|357615|357627|415115|438678|439298|439318|442785|489037|489369|489370|489384|489389|489456|489532|489595|489836|490252|490945|491365|491457|492065|493841|494170|495238|523378|544083|544355|544619|544684|544697|544713|544760|549520|549522|549610|561811|561815|584201|585811|585868|587344|587837|587950|588430|634934|636448|637406|696619|711640|718838|722721|722723|723187|735667|735669|736326|736327|736329|746350|746352|746353|746356|750076|761800|765687|766456|766457|766462|766892|774478|775422|823757|823758|823760|831971|831972|831973|831976|831977|831979|833935|833941|833943|833945|835054|835055|851291|898505|917462|924934|934028|934029|934030|934031|934032|934033|940088|940089|945788|945789|945790|945791|945792|945793|945794|955243|955244|955245|955246|955247|955248|955249|955250|955251|955252|955253|955254|959870|959871|977527|977528|977529|977530|978219|978220|978221|978222|978402|978403|978404|978405|978406|978477|978478", + "upstreamId": "21809|21813|22556|28743|98687|98689|98690|98692|98693|98694|98696|98698|98745|99009|99015|99019|99021|135330|143213|177104|177929|186748|186749|186751|186754|186755|186758|190969|192238|194546|194547|214063|226048|249842|249843|252357|252359|252360|252362|252975|252976|252977|253177|266955|267046|268099|268900|269776|270590|270884|271095|271283|271736|271739|272493|272943|273434|274209|275181|280503|281791|281806|281810|303601|307373|307376|307381|307593|311974|315355|357588|357593|357597|357610|357615|357627|415115|438678|439298|439318|442785|489037|489369|489370|489384|489389|489456|489532|489595|489836|490252|490945|491365|491457|492065|493841|494170|495238|523378|544083|544355|544619|544684|544697|544713|544760|549520|549522|549610|561811|561815|584201|585811|585868|587344|587837|587950|588430|634934|636448|637406|696619|711640|718838|722721|722723|723187|735667|735669|736326|736327|736329|746350|746352|746353|746356|750076|761800|765687|766456|766457|766462|766892|774478|775422|823757|823758|823760|831971|831972|831973|831976|831977|831979|833935|833941|833943|833945|835054|835055|851291|898505|917462|924934|934028|934029|934030|934031|934032|934033|940088|940089|945788|945789|945790|945791|945792|945793|945794|955243|955244|955245|955246|955247|955248|955249|955250|955251|955252|955253|955254|959870|959871|977527|977528|977529|977530|978219|978220|978221|978222|978402|978403|978404|978405|978406|978477|978478", "text": "Zellweger syndrome" }, { - "baseId": "21815|21816|21817|21818|21819|21820|21821|21822|21823|21824|21825|21826|21827|21828|21829|21830|21831|21833|21834|34124|34125|34126|34127|34128|34129|39234|99609|99610|99611|99612|99613|99614|99615|99616|99617|99618|99619|99620|99621|99622|99623|99624|99626|99627|99628|99629|177006|177453|177669|177670|177671|186840|186841|186842|186843|186844|194354|194886|194887|195292|195624|195932|195933|196225|245365|246241|254316|254317|260004|264564|265726|266505|268764|269745|270522|271600|272018|272430|273390|273738|274277|274816|315065|315066|315071|315072|315073|315075|315078|315079|315087|321891|321896|321897|321900|321903|321905|327941|327942|327946|327948|327949|327951|327952|327956|327963|327965|327970|327973|327984|329055|329056|329066|329068|329072|329073|329077|329078|329086|329090|329091|358065|358066|358067|358068|358069|358070|358071|358072|358073|358074|358075|358076|358077|358078|358079|371677|372666|384408|384409|408465|408466|421885|425943|433097|433098|438709|444884|461667|461979|481360|491417|492188|492787|493274|493276|504008|511941|511942|511943|527046|546305|546307|546315|546316|546320|546322|546324|546328|546329|546339|546343|546347|546357|546365|546367|546375|546379|546541|546545|546548|546550|546556|546558|546565|546567|546572|546580|546581|546586|546593|546678|546679|546680|546682|546683|546685|546706|546714|546717|546719|546953|546957|546958|546970|546972|546977|546979|546981|546984|546987|546990|546992|547001|579746|579753|580025|585825|586046|586149|586195|587912|609813|612484|620418|621366|621367|640438|640439|640440|652592|682818|687823|693110|693111|693112|693113|693114|695541|701965|701966|701967|701968|713125|724695|724696|724697|738262|768741|768742|768745|775783|784170|784172|799659|801702|801703|801704|801705|801706|801707|801708|801709|801710|820413|820414|820415|838974|838975|838976|838977|838978|838979|838980|838981|838982|838983|868738|868739|868740|868741|868742|868743|868744|868745|868746|868747|868748|868749|868750|868751|868752|868753|868754|868755|872134|917094|926381|935772|956656|960013|970537|970538|972111|972112|972113|972114|979139|979140|979141|979142|979143|979144|979145|979146|979147|981754|981755", + "upstreamId": "21815|21816|21817|21818|21819|21820|21821|21822|21823|21824|21825|21826|21827|21828|21829|21830|21831|21833|21834|34124|34125|34126|34127|34128|34129|39234|99609|99610|99611|99612|99613|99614|99615|99616|99617|99618|99619|99620|99621|99622|99623|99624|99626|99627|99628|99629|177006|177453|177669|177670|177671|186840|186841|186842|186843|186844|194354|194886|194887|195292|195624|195932|195933|196225|245365|246241|254316|254317|260004|264564|265726|266505|268764|269745|270522|271600|272018|272430|273390|273738|274277|274816|315065|315066|315071|315072|315073|315075|315078|315079|315087|321891|321896|321897|321900|321903|321905|327941|327942|327946|327948|327949|327951|327952|327956|327963|327965|327970|327973|327984|329055|329056|329066|329068|329072|329073|329077|329078|329086|329090|329091|358065|358066|358067|358068|358069|358070|358071|358072|358073|358074|358075|358076|358077|358078|358079|371677|372666|384408|384409|408465|408466|421885|425943|433097|433098|438709|444884|461667|461979|481360|491417|492188|492787|493274|493276|504008|511941|511942|511943|527046|546305|546307|546315|546316|546320|546322|546324|546328|546329|546339|546343|546347|546357|546365|546367|546375|546379|546541|546545|546548|546550|546556|546558|546565|546567|546572|546580|546581|546586|546593|546678|546679|546680|546682|546683|546685|546706|546714|546717|546719|546953|546957|546958|546970|546972|546977|546979|546981|546984|546987|546990|546992|547001|579746|579753|580025|585825|586046|586149|586195|587912|609813|612484|620418|621366|621367|640438|640439|640440|652592|682818|687823|693110|693111|693112|693113|693114|695541|701965|701966|701967|701968|713125|724695|724696|724697|738262|768741|768742|768745|775783|784170|784172|799659|801702|801703|801704|801705|801706|801707|801708|801709|801710|820413|820414|820415|838974|838975|838976|838977|838978|838979|838980|838981|838982|838983|868738|868739|868740|868741|868742|868743|868744|868745|868746|868747|868748|868749|868750|868751|868752|868753|868754|868755|872134|917094|926381|935772|956656|960013|970537|970538|972111|972112|972113|972114|979139|979140|979141|979142|979143|979144|979145|979146|979147|981754|981755", "text": "Smith-Lemli-Opitz syndrome" }, { - "baseId": "21836|21837|55471|55476|55477|55483|55485|55503|55513|55548|55571|106479|168546|168547|168555|168557|174306|174455|194148|195465|195827|229338|229349|229357|267749|269624|275060|275062|363866|415013|433350|495293|496403|496405|537464|589833|589834|589835", + "upstreamId": "21836|21837|55471|55476|55477|55483|55485|55503|55513|55548|55571|106479|168546|168547|168555|168557|174306|174455|194148|195465|195827|229338|229349|229357|267749|269624|275060|275062|363866|415013|433350|495293|496403|496405|537464|589833|589834|589835", "text": "Febrile seizures, familial, 4" }, { - "baseId": "21845|21846|21847|21848|45788|45789|45790|45791|45792|90045|171817|191224|213000|222254|222255|222256|241565|241566|241567|271562|318107|318110|318113|318115|318116|318117|318122|318126|326104|326106|326119|326120|326121|326123|326124|326134|326135|326136|326141|332266|332269|332270|332273|332277|333824|333831|333832|333843|333845|333846|333855|375383|399029|424371|504582|622416|641315|688034|870210|870211|870212|870213|870214|870215|870216|870217|870218|870219|870220|870221|870222|870223|870224|872274|872275|872276|872277|872278|872279|872280|962052|962981", + "upstreamId": "21845|21846|21847|21848|45788|45789|45790|45791|45792|90045|171817|191224|213000|222254|222255|222256|241565|241566|241567|271562|318107|318110|318113|318115|318116|318117|318122|318126|326104|326106|326119|326120|326121|326123|326124|326134|326135|326136|326141|332266|332269|332270|332273|332277|333824|333831|333832|333843|333845|333846|333855|375383|399029|424371|504582|622416|641315|688034|870210|870211|870212|870213|870214|870215|870216|870217|870218|870219|870220|870221|870222|870223|870224|872274|872275|872276|872277|872278|872279|872280|962052|962981", "text": "Hereditary spastic paraplegia 10" }, { - "baseId": 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+ "upstreamId": "21849|21850|21851|21852|21853|21854|21855|21856|21857|21858|21859|51184|135816|135817|142940|142942|142943|142944|142945|142946|142947|142948|142949|142951|142952|142953|142954|142955|142956|186292|195942|208318|211737|211739|211741|211742|211747|211749|211751|211755|211756|211761|211763|211764|211768|211769|211772|211774|211775|213227|213228|213229|213641|213915|213916|213917|213918|213919|222537|222538|222539|222540|242529|242530|248513|255958|255959|269605|326812|326821|326826|336676|336690|336696|336697|336700|336701|336703|336704|336707|342919|342921|342925|342929|342935|344561|344562|344563|344565|344572|344574|344576|344577|374766|377952|401362|401365|401370|401888|401895|402128|402129|402131|429892|441936|445680|445681|466101|466106|466843|466845|466849|466893|466894|467161|486615|497082|505670|513462|530390|530394|530501|530508|530706|530925|530928|567555|568462|568464|569409|570615|570617|570618|570622|570623|570627|570640|574210|574212|608910|612180|620566|645143|645144|645145|645146|645147|645148|645149|645150|645151|645152|653174|653317|684633|684635|688681|690151|690154|695710|785444|791658|798709|820914|820915|844498|844499|844500|844501|844502|844503|844504|844505|844506|851691|852135|860324|860325|876179|876180|876181|876182|876183|876184|876185|876186|876187|876188|876189|876190|876191|876192|876193|876194|876195|876196|876197|876198|876199|876200|876201|876202|876203|876736|876737|920366|928010|937663|937664|941153|949638|949639|949640|949641|957925|960185|964325|964463|969131|969132|971059", "text": "Hereditary spastic paraplegia 7" }, { - "baseId": "21855|540454|540462", + "upstreamId": "21855|540454|540462", "text": "Proximal spinal muscular atrophy" }, { - "baseId": "21860|49102|49103|49105|49107|49108|142807|142808|142810|142812|142813|174881|179140|179141|179142|179144|179148|221939|240748|309510|309511|309513|309515|314301|314305|314306|314307|314309|314312|314313|314315|314317|320243|320262|320263|320265|320266|320267|320712|320713|320724|320726|320730|320731|320732|320733|320740|320741|320742|320743|371571|487399|865432|865433|865434|865435|865436|865437|865438|865439|865440|865441|865442|865443|865444|868444|962146|964339", + "upstreamId": "21860|49102|49103|49105|49107|49108|142807|142808|142810|142812|142813|174881|179140|179141|179142|179144|179148|221939|240748|309510|309511|309513|309515|314301|314305|314306|314307|314309|314312|314313|314315|314317|320243|320262|320263|320265|320266|320267|320712|320713|320724|320726|320730|320731|320732|320733|320740|320741|320742|320743|371571|487399|865432|865433|865434|865435|865436|865437|865438|865439|865440|865441|865442|865443|865444|868444|962146|964339", "text": "Noonan syndrome-like disorder with loose anagen hair 1" }, { - "baseId": 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"text": "Noonan syndrome" }, { - "baseId": "21860", + "upstreamId": "21860", "text": "Noonan syndrome-like disorder with loose anagen hair" }, { - "baseId": 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0|958211|958212", "text": "Fanconi anemia, complementation group O" }, { - "baseId": "21863|21864|21864|40236|40237|133658|133658|133659|133659|133660|133662|133663|133664|133666|133666|133667|133667|133668|133668|136450|136469|139868|139868|139869|139874|142570|142572|142573|150513|150563|150627|150654|150919|151038|151246|151482|151482|151537|151800|151868|152167|152248|152476|152554|152554|152633|180903|180903|180908|180909|180912|180917|180917|185137|185139|185140|185147|185149|185150|185157|185160|185166|185168|185173|185182|186265|213341|213350|213352|213353|222692|236229|236233|236240|242836|242838|358950|358951|358952|358953|376262|376387|378546|402613|402623|410106|410106|418813|467076|479002|485192|485425|487902|539369|539370|539371|877959|962062|964691|970154|971086", + "upstreamId": "21863|21864|21864|40236|40237|133658|133658|133659|133659|133660|133662|133663|133664|133666|133666|133667|133667|133668|133668|136450|136469|139868|139868|139869|139874|142570|142572|142573|150513|150563|150627|150654|150919|151038|151246|151482|151482|151537|151800|151868|152167|152248|152476|152554|152554|152633|180903|180903|180908|180909|180912|180917|180917|185137|185139|185140|185147|185149|185150|185157|185160|185166|185168|185173|185182|186265|213341|213350|213352|213353|222692|236229|236233|236240|242836|242838|358950|358951|358952|358953|376262|376387|378546|402613|402623|410106|410106|418813|467076|479002|485192|485425|487902|539369|539370|539371|877959|962062|964691|970154|971086", "text": "Breast-ovarian cancer, familial 3" }, { - "baseId": "21865|21866|361961", + "upstreamId": "21865|21866|361961", "text": "46,XY sex reversal, type 5" }, { - "baseId": "21867|21868|21869|21870|21871|21872|21873|21874|49800|49801|49802|49803|257118|257120|257121|257122|257124|257125|257126|269520|271078|273929|343596|343598|343599|348886|348887|348888|348892|348894|348895|349840|349841|349842|377459|377467|446129|489138|490564|493096|506734|550639|584444|716437|728175|757014|772687|800134|800135|800136|800137|800138|800139|882012|882013|882014|882015|882016|882017|882018|882019|882020|882021|882022|882023|882024|882025|882026|882027|882028|882029|882030|882031|882032|882033|882034|882035|882036|882037|882886|882887|882888|982183|982184|982185", + "upstreamId": "21867|21868|21869|21870|21871|21872|21873|21874|49800|49801|49802|49803|257118|257120|257121|257122|257124|257125|257126|269520|271078|273929|343596|343598|343599|348886|348887|348888|348892|348894|348895|349840|349841|349842|377459|377467|446129|489138|490564|493096|506734|550639|584444|716437|728175|757014|772687|800134|800135|800136|800137|800138|800139|882012|882013|882014|882015|882016|882017|882018|882019|882020|882021|882022|882023|882024|882025|882026|882027|882028|882029|882030|882031|882032|882033|882034|882035|882036|882037|882886|882887|882888|982183|982184|982185", "text": "Spondylocostal dysostosis 1, autosomal recessive" }, { - "baseId": "21867|49802|513006|626275|971133", + "upstreamId": "21867|49802|513006|626275|971133", "text": "Leukodystrophy and acquired microcephaly with or without dystonia" }, { - "baseId": "21871|620639|620640", + "upstreamId": "21871|620639|620640", "text": "DLL3-Related Disorders" }, { - "baseId": "21875|102652|108186|626217", + "upstreamId": "21875|102652|108186|626217", "text": "Ectodermal dysplasia, 'pure' hair-nail type" }, { - "baseId": "21876|22540|22541|22648|22649|22650|22651|22652|22653|77443|317734|317735|317737|317739|317743|317751|317752|317759|317761|317769|317770|317773|317774|317779|325606|325607|325615|325618|325628|325645|325658|325660|325663|325664|325665|325671|325672|325673|325677|325680|325681|331857|331858|331860|331865|331866|331867|331869|331874|331881|331883|331886|331892|331900|331903|333345|333358|333362|333363|333364|333366|333367|333368|333373|333383|333391|333400|333406|333411|333422|333426|439458|552164|870085|870086|870087|870088|870089|870090|870091|870092|870093|870094|870095|870096|870097|870098|870099|870100|870101", + "upstreamId": "21876|22540|22541|22648|22649|22650|22651|22652|22653|77443|317734|317735|317737|317739|317743|317751|317752|317759|317761|317769|317770|317773|317774|317779|325606|325607|325615|325618|325628|325645|325658|325660|325663|325664|325665|325671|325672|325673|325677|325680|325681|331857|331858|331860|331865|331866|331867|331869|331874|331881|331883|331886|331892|331900|331903|333345|333358|333362|333363|333364|333366|333367|333368|333373|333383|333391|333400|333406|333411|333422|333426|439458|552164|870085|870086|870087|870088|870089|870090|870091|870092|870093|870094|870095|870096|870097|870098|870099|870100|870101", "text": "Beaded hair" }, { - "baseId": "21877|21878|21879", + "upstreamId": "21877|21878|21879", "text": "Fibrosis of extraocular muscles, congenital, 2" }, { - "baseId": "21880|21881|21882|21883|21884|44134|44135|44136|44137|206769|206770|249766|249767|249768|249769|279455|279456|279459|279460|279463|279465|279474|279476|279480|279484|279486|279487|279492|279732|279735|279737|279738|279739|279748|279749|279758|279760|281000|281012|281013|281024|281025|281026|281033|281034|281035|281059|281066|281161|281162|281163|281170|281173|498296|498407|498463|578380|654202|679852|718785|732261|863860|863861|863862|863863|863864|863865|863866|863867|863868|863869|863870|863871|863872|863873|863874|865135|981312", + "upstreamId": "21880|21881|21882|21883|21884|44134|44135|44136|44137|206769|206770|249766|249767|249768|249769|279455|279456|279459|279460|279463|279465|279474|279476|279480|279484|279486|279487|279492|279732|279735|279737|279738|279739|279748|279749|279758|279760|281000|281012|281013|281024|281025|281026|281033|281034|281035|281059|281066|281161|281162|281163|281170|281173|498296|498407|498463|578380|654202|679852|718785|732261|863860|863861|863862|863863|863864|863865|863866|863867|863868|863869|863870|863871|863872|863873|863874|865135|981312", "text": "Rhizomelic chondrodysplasia punctata type 2" }, { - "baseId": "21885|21886|21887|21888|21889|21892|21893|21894|21895|45357|45358|54849|54851|54852|54853|54854|54857|54862|54864|54867|54871|54874|54875|54876|54878|54882|54882|54886|54888|54892|54898|174047|179122|179133|224349|229564|252655|302196|302212|302215|302216|302224|305396|305405|305406|305426|305434|305440|305443|305444|305445|305447|310221|310227|310228|310229|310234|310323|310325|310327|310328|310329|310346|310347|310357|369358|432490|456504|456900|457592|509882|511090|622378|897682|897683|897684|897685|897686|897687|897688|897689|897690|897691|897692|897693|897694|897695|897696|897697|897698|897699|897700", + "upstreamId": "21885|21886|21887|21888|21889|21892|21893|21894|21895|45357|45358|54849|54851|54852|54853|54854|54857|54862|54864|54867|54871|54874|54875|54876|54878|54882|54882|54886|54888|54892|54898|174047|179122|179133|224349|229564|252655|302196|302212|302215|302216|302224|305396|305405|305406|305426|305434|305440|305443|305444|305445|305447|310221|310227|310228|310229|310234|310323|310325|310327|310328|310329|310346|310347|310357|369358|432490|456504|456900|457592|509882|511090|622378|897682|897683|897684|897685|897686|897687|897688|897689|897690|897691|897692|897693|897694|897695|897696|897697|897698|897699|897700", "text": "Familial hypertrophic cardiomyopathy 6" }, { - "baseId": 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+ "upstreamId": 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"text": "Glycogen storage disease of heart, lethal congenital" }, { - "baseId": "21890", + "upstreamId": "21890", "text": "Wolff-Parkinson-White syndrome, childhood-onset" }, { - "baseId": "21896", + "upstreamId": "21896", "text": "ALDH9A1*2 POLYMORPHISM" }, { - "baseId": "21897|21898|139993|139994|239192|239193|251100|251101|251102|251104|290147|290148|290149|290153|290155|290156|290157|290160|290168|290173|290176|290184|290185|290186|290193|290197|290198|290200|290201|290203|290208|290212|290215|290217|290225|290228|290233|290928|290931|290932|290933|290940|290943|290945|290948|290949|290957|290959|290960|290961|290963|290967|290970|290974|290975|290976|290985|290997|290998|290999|291000|291005|291006|291007|291009|291012|291015|291020|291023|294026|294027|294028|294029|294040|294046|294052|294053|294060|294066|294088|294089|294100|294104|294110|294168|294169|294170|294199|294201|294205|294215|294217|294235|294237|294239|294246|294248|294255|294258|294274|294276|294282|294284|294292|294555|294559|294563|294567|294573|294574|294575|294586|294587|294588|294597|294625|294626|294661|294662|294665|294670|294671|294672|294675|294676|294677|294681|294684|294690|294692|294694|294698|393944|452690|536043|536044|559455|561442|561446|631268|631269|631270|683572|763849|819397|827981|851043|888751|888752|888753|888754|888755|888756|888757|888758|888759|888760|888761|888762|888763|888764|888765|888766|888767|888768|888769|888770|888771|888772|888773|888774|888775|888776|888777|888778|888779|888780|888781|888782|888783|888784|888785|888786|888787|888788|888789|888790|888791|888792|888793|888794|888795|888796|888797|888798|888799|888800|888801|888802|888803|888804|888805|888806|888807|888808|888809|888810|888811|888812|888813|888814|888815|888816|888817|888818|888819|888820|888821|888822|888823|888824|888825|888826|888827|888828|888829|888830|888831|888832|888833|888834|888835|888836|891638|923158", + "upstreamId": "21897|21898|139993|139994|239192|239193|251100|251101|251102|251104|290147|290148|290149|290153|290155|290156|290157|290160|290168|290173|290176|290184|290185|290186|290193|290197|290198|290200|290201|290203|290208|290212|290215|290217|290225|290228|290233|290928|290931|290932|290933|290940|290943|290945|290948|290949|290957|290959|290960|290961|290963|290967|290970|290974|290975|290976|290985|290997|290998|290999|291000|291005|291006|291007|291009|291012|291015|291020|291023|294026|294027|294028|294029|294040|294046|294052|294053|294060|294066|294088|294089|294100|294104|294110|294168|294169|294170|294199|294201|294205|294215|294217|294235|294237|294239|294246|294248|294255|294258|294274|294276|294282|294284|294292|294555|294559|294563|294567|294573|294574|294575|294586|294587|294588|294597|294625|294626|294661|294662|294665|294670|294671|294672|294675|294676|294677|294681|294684|294690|294692|294694|294698|393944|452690|536043|536044|559455|561442|561446|631268|631269|631270|683572|763849|819397|827981|851043|888751|888752|888753|888754|888755|888756|888757|888758|888759|888760|888761|888762|888763|888764|888765|888766|888767|888768|888769|888770|888771|888772|888773|888774|888775|888776|888777|888778|888779|888780|888781|888782|888783|888784|888785|888786|888787|888788|888789|888790|888791|888792|888793|888794|888795|888796|888797|888798|888799|888800|888801|888802|888803|888804|888805|888806|888807|888808|888809|888810|888811|888812|888813|888814|888815|888816|888817|888818|888819|888820|888821|888822|888823|888824|888825|888826|888827|888828|888829|888830|888831|888832|888833|888834|888835|888836|891638|923158", "text": "Heterotaxy, visceral, 4, autosomal" }, { - "baseId": "21899|21900|21901|21902|21904|71503|76542|76543|481239|536017|536182|576355|614411|798694|815881", + "upstreamId": "21899|21900|21901|21902|21904|71503|76542|76543|481239|536017|536182|576355|614411|798694|815881", "text": "Autosomal recessive osteopetrosis 4" }, { - "baseId": "21902|21903|71503|432314|614411|857325", + "upstreamId": "21902|21903|71503|432314|614411|857325", "text": "Autosomal dominant osteopetrosis 2" }, { - "baseId": "21911|71095|71146|178740|178742|178744|178745|195679|227404|256857|256860|256861|256864|256865|256867|256868|256869|256870|256871|256872|256873|256874|256875|256878|256879|256880|256882|256883|256885|266609|274359|274817|333154|333158|333161|333167|333168|333170|333178|333184|333186|333189|343255|343256|343261|343265|343267|343271|343274|343277|343280|343281|343291|343294|343299|348596|348601|348603|348604|348605|348612|348614|348618|348619|348620|349673|349675|349676|349677|349680|349682|349684|349685|349689|349691|349694|376402|442195|549351|728133|728134|728136|728137|731272|731273|741813|741816|741820|756935|772603|772613|772617|786153|801193|801251|880314|880315|880316|880317|880318|880319|880320|880321|880322|880323|880324|880325|880326|880327|880328|880329|880330|880331|880332|880333|880334|880335|880336|880337|880338|880339|880340|880341|880342|880343|880344|880345|880346|880347|880348|880349|880350|880351|880352|880353|880730|880731|880732|880733", + "upstreamId": "21911|71095|71146|178740|178742|178744|178745|195679|227404|256857|256860|256861|256864|256865|256867|256868|256869|256870|256871|256872|256873|256874|256875|256878|256879|256880|256882|256883|256885|266609|274359|274817|333154|333158|333161|333167|333168|333170|333178|333184|333186|333189|343255|343256|343261|343265|343267|343271|343274|343277|343280|343281|343291|343294|343299|348596|348601|348603|348604|348605|348612|348614|348618|348619|348620|349673|349675|349676|349677|349680|349682|349684|349685|349689|349691|349694|376402|442195|549351|728133|728134|728136|728137|731272|731273|741813|741816|741820|756935|772603|772613|772617|786153|801193|801251|880314|880315|880316|880317|880318|880319|880320|880321|880322|880323|880324|880325|880326|880327|880328|880329|880330|880331|880332|880333|880334|880335|880336|880337|880338|880339|880340|880341|880342|880343|880344|880345|880346|880347|880348|880349|880350|880351|880352|880353|880730|880731|880732|880733", "text": "Congenital nephrotic syndrome" }, { - "baseId": "21915|21916|21917|21918|187665|193527|253107|253108|305231|305236|305237|305240|305241|305242|305246|309032|309051|309052|309053|309054|314239|314242|314244|314247|314248|314251|314252|314253|314254|314259|314269|314277|314278|369941|700586|736643|751132|834750|834753|834754|899513|899514|899515|899516|899517|899518|899519|899520|899521|899522|899523|899524|899525|899526|899527|899528|899529|899530|899531|899532|899533|899534|900488|900489|900490|900491|900492|903555", + "upstreamId": "21915|21916|21917|21918|187665|193527|253107|253108|305231|305236|305237|305240|305241|305242|305246|309032|309051|309052|309053|309054|314239|314242|314244|314247|314248|314251|314252|314253|314254|314259|314269|314277|314278|369941|700586|736643|751132|834750|834753|834754|899513|899514|899515|899516|899517|899518|899519|899520|899521|899522|899523|899524|899525|899526|899527|899528|899529|899530|899531|899532|899533|899534|900488|900489|900490|900491|900492|903555", "text": "Cone-rod dystrophy 9" }, { - "baseId": "21919|21921|21922|21923|21924|21925|39232|99638|99640|99642|99647|99648|137774|137778|137779|137780|137782|137785|137788|137795|137796|137804|141323|169822|169823|169824|169825|169826|169826|169829|169830|169831|169832|169834|169834|169835|169836|181577|191007|191199|192635|193836|193839|195293|205026|208797|208799|208800|208801|226604|227707|236858|245212|247753|247754|247755|247756|247757|247757|259242|265631|271024|271309|338245|338250|338256|338271|338276|347905|347913|347927|347955|351664|351674|351691|351692|352602|352602|360506|362398|379858|379858|380144|384415|431927|431928|431929|431929|432225|434511|434513|470316|470318|492538|493637|493638|534326|534478|534841|550374|550646|552232|572013|572016|572017|572022|573419|574141|574142|574143|649528|649529|649530|653288|653900|654141|677319|677464|705951|705953|705956|717474|729208|729209|729218|731426|731427|742927|742935|742936|773567|773568|773569|778625|800410|805121|815824|815825|815826|815827|815828|815829|815830|815831|815832|815833|815834|815835|821465|821466|849375|849376|849377|849378|904252|929496|941282|959101|960349|963188|964555|966019|966047|971162|971163|971164|975872|975873|983307", + "upstreamId": "21919|21921|21922|21923|21924|21925|39232|99638|99640|99642|99647|99648|137774|137778|137779|137780|137782|137785|137788|137795|137796|137804|141323|169822|169823|169824|169825|169826|169826|169829|169830|169831|169832|169834|169834|169835|169836|181577|191007|191199|192635|193836|193839|195293|205026|208797|208799|208800|208801|226604|227707|236858|245212|247753|247754|247755|247756|247757|247757|259242|265631|271024|271309|338245|338250|338256|338271|338276|347905|347913|347927|347955|351664|351674|351691|351692|352602|352602|360506|362398|379858|379858|380144|384415|431927|431928|431929|431929|432225|434511|434513|470316|470318|492538|493637|493638|534326|534478|534841|550374|550646|552232|572013|572016|572017|572022|573419|574141|574142|574143|649528|649529|649530|653288|653900|654141|677319|677464|705951|705953|705956|717474|729208|729209|729218|731426|731427|742927|742935|742936|773567|773568|773569|778625|800410|805121|815824|815825|815826|815827|815828|815829|815830|815831|815832|815833|815834|815835|821465|821466|849375|849376|849377|849378|904252|929496|941282|959101|960349|963188|964555|966019|966047|971162|971163|971164|975872|975873|983307", "text": "Rubinstein-Taybi syndrome 2" }, { - "baseId": 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+ "upstreamId": 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"text": "Paragangliomas 1" }, { - "baseId": 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+ "upstreamId": 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"text": "Carney-Stratakis syndrome" }, { - "baseId": 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+ "upstreamId": 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"text": "Cowden syndrome 3" }, { - "baseId": "21935|21943", + "upstreamId": "21935|21943", "text": "Paragangliomas 1 with sensorineural hearing loss" }, { - "baseId": 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"text": "Mitochondrial complex II deficiency" }, { - "baseId": 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+ "upstreamId": 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"text": "Cowden syndrome" }, { - "baseId": "21948", + "upstreamId": "21948", "text": "Carcinoid tumor of intestine" }, { - "baseId": "21950", + "upstreamId": "21950", "text": "Carotid body paraganglioma" }, { - "baseId": "21958", + "upstreamId": "21958", "text": "Lymphoma, somatic" }, { - "baseId": 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+ "upstreamId": 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"text": "Glucose-6-phosphate transport defect" }, { - "baseId": "21964|21965|21966|21967|21968|21973|211495|788846|816318", + "upstreamId": "21964|21965|21966|21967|21968|21973|211495|788846|816318", "text": "Phosphate transport defect" }, { - "baseId": "21967|79181|142889|142890|142898|211496|269769|312550|312552|312554|312555|312556|318519|318535|318538|318539|318540|318543|318547|324615|324617|324620|324631|324632|324638|324642|324643|325352|325353|325367|325369|325384|325389|325405|325408|328602|338546|344627|346020|346037|371269|425908|570368|867110|867111|867112|867113|867114|867115|867116|867117|867118|867119|868609", + "upstreamId": "21967|79181|142889|142890|142898|211496|269769|312550|312552|312554|312555|312556|318519|318535|318538|318539|318540|318543|318547|324615|324617|324620|324631|324632|324638|324642|324643|325352|325353|325367|325369|325384|325389|325405|325408|328602|338546|344627|346020|346037|371269|425908|570368|867110|867111|867112|867113|867114|867115|867116|867117|867118|867119|868609", "text": "Glycogen storage disease, type I" }, { - "baseId": "21976", + "upstreamId": "21976", "text": "ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES" }, { - "baseId": "21976|21978", + "upstreamId": "21976|21978", "text": "Cataract 11, posterior polar" }, { - "baseId": "21977|459553|459568|459812|564449|638655", + "upstreamId": "21977|459553|459568|459812|564449|638655", "text": "Cataract 11" }, { - "baseId": "21978", + "upstreamId": "21978", "text": "Cataract 11, posterior polar, with microphthalmia and neurodevelopmental abnormalities" }, { - "baseId": 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"text": "Microcephaly, normal intelligence and immunodeficiency" }, { - "baseId": 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"text": "Breast-ovarian cancer, familial 1" }, { - "baseId": "21979|181404|205017|429431|432212|514176|514178|577997", + "upstreamId": "21979|181404|205017|429431|432212|514176|514178|577997", "text": "Lissencephaly" }, { - "baseId": "21985|29927", + "upstreamId": "21985|29927", "text": "Leukemia, acute lymphoblastic, susceptibility to" }, { - "baseId": "21985|31311|31315|31317|132522|132527|133309|133320|133322|133328|133329|133330|133331|150860|152273|180277|180279|180298|182874|182897|188057|188069|188070|214777|221794|226498|226502|233702|357674|458623|458714|474812|578477|613429|614326", + "upstreamId": "21985|31311|31315|31317|132522|132527|133309|133320|133322|133328|133329|133330|133331|150860|152273|180277|180279|180298|182874|182897|188057|188069|188070|214777|221794|226498|226502|233702|357674|458623|458714|474812|578477|613429|614326", "text": "Acute lymphoid leukemia" }, { - "baseId": 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"21989|21990|21991|21992|21993|21994|21995|21996|21997|21998|21999|22000|22001|54906|54907|54908|54909|54910|54911|54912|54913|54915|54916|54917|54918|54919|54920|54923|54924|54925|54926|54927|54928|54929|54931|54932|54933|54934|54937|54938|54939|54940|54941|54942|175791|175792|175796|175797|175798|175932|175933|175936|176462|176466|176468|176471|176472|176475|176476|176480|176484|176597|176598|176599|176600|176601|176602|176605|176611|176616|176618|176622|176625|176627|192472|192473|192474|192476|193866|194652|196040|199805|199806|199807|215531|230680|230682|230683|230688|230689|230690|230691|230693|230695|230696|230698|230699|230701|230702|230703|230704|230706|230707|230708|230715|230716|230717|230718|230722|230729|230730|230737|230740|230742|230743|230744|230751|230754|230756|230759|237620|237621|237622|237623|237627|243882|243883|243884|243885|243886|243887|243888|243889|243890|256094|266315|270870|270906|271404|271671|271672|272122|273474|273537|273936|327520|327521|327526|327534|327536|327540|327547|327549|327553|327568|327569|327573|327577|327584|327585|327589|327595|327598|327603|327607|327609|327616|327617|327620|327624|327625|327629|327632|327635|337362|337369|337371|337372|337379|337384|337389|337390|337392|337393|337394|337400|337401|337421|337422|337428|337433|337436|337440|337444|337447|337451|337454|343643|343644|343645|343647|343651|343653|343654|343659|343660|343661|343663|343670|343671|343675|343677|343678|343682|343685|343687|343695|343696|343698|343702|343705|345134|345135|345138|345139|345142|345145|345150|345152|345155|345168|345169|345172|345173|362512|362514|362515|362516|362517|362518|362519|374869|389248|389249|389250|404827|404828|404829|404830|409848|429949|432332|433740|433746|445715|486171|490078|491485|491616|495663|497267|497482|497483|497486|497557|497559|497697|497701|497706|505999|506711|511041|513367|513642|550628|551793|553270|553271|585861|590324|610066|610067|612316|612317|614515|615819|615820|615821|615822|615823|615824|615825|615826|615843|615844|615845|620573|620574|620575|654813|654820|654829|679025|682318|727034|755678|771299|788906|788907|791683|791684|791685|791686|800008|802078|857687|857688|857689|857690|857691|857695|876921|876922|876923|876924|876925|876926|876927|876928|876929|876930|876931|876932|876933|876934|876935|876936|876937|876938|876939|876940|876941|876942|876943|876944|876945|876946|876947|876948|876949|876950|876951|876952|876953|876954|876955|876956|876957|876958|876959|876960|876961|876962|876963|876964|876965|876966|876967|876968|876969|876970|876971|876972|876973|876974|876975|876976|876977|876978|876979|876980|876981|876982|876983|876984|876985|876986|876987|876988|876989|876990|880480|880481|880482|880483|880484|880485|880486|903700|919714|961220|961804|972888|972889|972890|972891", "text": "Deafness, autosomal recessive 3" }, { - "baseId": "21995", + "upstreamId": "21995", "text": "Deafness, with smith-magenis syndrome" }, { - "baseId": "22002|22003|22004|22005|22006|169307|169309|217278|217279|217280|217281|226603|609009", + "upstreamId": "22002|22003|22004|22005|22006|169307|169309|217278|217279|217280|217281|226603|609009", "text": "Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement" }, { - "baseId": "22006|39228|39230|39231|169306|169307|169309|169309|169310|169311|169312|237806|260145|263006|361225|377988|432220|626163|919692|963822", + "upstreamId": "22006|39228|39230|39231|169306|169307|169309|169309|169310|169311|169312|237806|260145|263006|361225|377988|432220|626163|919692|963822", "text": "Cortical dysplasia, complex, with other brain malformations 1" }, { - "baseId": "22006", + "upstreamId": "22006", "text": "TUBB3-Releated Disorders" }, { - "baseId": "22007|22008|22009|22010|22011|193510|194906|205369|205370|253027|253028|253029|253030|265664|269519|304088|304092|304093|304097|304099|304106|307666|307668|307673|307678|307679|307680|307683|307700|312720|312721|312722|312723|312847|312848|312849|312854|312855|312861|700368|722816|766526|782986|790777|804849|898787|898788|898789|898790|898791|898792|898793|898794|898795|898796|898797|898798|898799|898800|898801|898802|898803|898804|898805", + "upstreamId": "22007|22008|22009|22010|22011|193510|194906|205369|205370|253027|253028|253029|253030|265664|269519|304088|304092|304093|304097|304099|304106|307666|307668|307673|307678|307679|307680|307683|307700|312720|312721|312722|312723|312847|312848|312849|312854|312855|312861|700368|722816|766526|782986|790777|804849|898787|898788|898789|898790|898791|898792|898793|898794|898795|898796|898797|898798|898799|898800|898801|898802|898803|898804|898805", "text": "Hyperphosphatasemia with bone disease" }, { - "baseId": "22012|22013|22014|190419|190420|190421|192363|272169|319880|319885|319888|319889|319890|319892|319894|328402|328403|328404|328405|328409|328415|328417|328418|328419|334847|334852|334853|334862|334865|334866|334868|336653|336655|336660|336665|336667|336673|336678|336679|489921|493082|725493|871352|871353|871354|871355|871356|871357|871358|871359|871360|871361|871362|871363|871364|871365|871366|871367|871368|871369|872337|872338", + "upstreamId": "22012|22013|22014|190419|190420|190421|192363|272169|319880|319885|319888|319889|319890|319892|319894|328402|328403|328404|328405|328409|328415|328417|328418|328419|334847|334852|334853|334862|334865|334866|334868|336653|336655|336660|336665|336667|336673|336678|336679|489921|493082|725493|871352|871353|871354|871355|871356|871357|871358|871359|871360|871361|871362|871363|871364|871365|871366|871367|871368|871369|872337|872338", "text": "Autosomal recessive osteopetrosis 2" }, { - "baseId": "22016", + "upstreamId": "22016", "text": "Rhabdomyosarcoma, somatic" }, { - "baseId": "22018|22019|22020|22021|22022|22023|76404|76412|76415|256653|256655|256656|256657|256658|331219|341498|346976|348241|532725|536083|653071|688913|694269|846827|879169|879170|879171|958460", + "upstreamId": "22018|22019|22020|22021|22022|22023|76404|76412|76415|256653|256655|256656|256657|256658|331219|341498|346976|348241|532725|536083|653071|688913|694269|846827|879169|879170|879171|958460", "text": "Holoprosencephaly 4" }, { - "baseId": "22024", + "upstreamId": "22024", "text": "Major depressive disorder, increased recurrence of depressive episodes in, susceptibility to" }, { - "baseId": "22024", + "upstreamId": "22024", "text": "Antidepressant drug treatment, accelerated response to" }, { - "baseId": "22025|22026|100996|100997|100998|204978|429030|512836|512915", + "upstreamId": "22025|22026|100996|100997|100998|204978|429030|512836|512915", "text": "Bamforth-Lazarus syndrome" }, { - "baseId": "22027", + "upstreamId": "22027", "text": "Hypothyroidism, thyroidal, with spiky hair and cleft palate" }, { - "baseId": "22028|22029|22030|22031|39226|99964|215480|320623|320625|320628|320629|320630|320634|329377|329381|329384|329387|329403|329405|335962|335964|335969|335971|335973|335975|335986|335994|335995|337946|337947|337948|337962|373093|373845|463235|528644|566447|568070|609060|609061|609062|609066|622903|622904|642457|642458|642459|693494|871869|871870|871871|871872|871873|871874|871875|871876|871877|871878|871879|871880|871881|871882|871883|871884|871885|871886|871887|871888|871889|871890|871891|871892|957222", + "upstreamId": "22028|22029|22030|22031|39226|99964|215480|320623|320625|320628|320629|320630|320634|329377|329381|329384|329387|329403|329405|335962|335964|335969|335971|335973|335975|335986|335994|335995|337946|337947|337948|337962|373093|373845|463235|528644|566447|568070|609060|609061|609062|609066|622903|622904|642457|642458|642459|693494|871869|871870|871871|871872|871873|871874|871875|871876|871877|871878|871879|871880|871881|871882|871883|871884|871885|871886|871887|871888|871889|871890|871891|871892|957222", "text": "Congenital disorder of glycosylation, type IIa" }, { - "baseId": "22035|76355|76356", + "upstreamId": "22035|76355|76356", "text": "Myocardial infarction 1" }, { - "baseId": "22036|22037", + "upstreamId": "22036|22037", "text": "Hypotrichosis 2" }, { - "baseId": "22038|252773|252774|270302|456628|456641|489129|610534|610535|636050|636051|710940|722463|736085|736086|736088|744380|782840|833499|924817|955129|970855", + "upstreamId": "22038|252773|252774|270302|456628|456641|489129|610534|610535|636050|636051|710940|722463|736085|736086|736088|744380|782840|833499|924817|955129|970855", "text": "Spondylocostal dysostosis 3, autosomal recessive" }, { - "baseId": 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+ "upstreamId": "22039|22040|22041|22042|22043|22044|22045|22046|22047|22048|22049|22050|22051|204428|253286|253288|253289|253293|253294|253295|253297|259911|306673|306675|306682|306684|306685|306686|306691|306693|306697|306699|306708|306710|306713|306724|306725|306731|306733|306737|306738|306740|306741|306743|306744|306748|306751|306763|306764|306769|306774|306776|306780|306786|306787|306790|306791|306795|306798|306799|310851|310853|310860|310865|310867|310869|310871|310875|310879|310880|310881|310882|310883|310889|310891|310893|310910|310911|310917|310920|310921|310922|310926|310940|316376|316385|316386|316387|316388|316392|316396|316397|316399|316400|316407|316410|316411|316426|316431|316434|316439|316442|316462|316483|316484|316485|316487|316496|316499|316502|316503|316504|316530|316610|316617|316618|316627|316630|316638|316643|316646|316649|316652|316653|316657|316659|316670|316682|316691|316698|316705|316708|316709|316712|316717|316722|316723|316729|316735|316736|316737|316740|316743|316753|316761|316763|316767|316768|316769|354169|417436|417439|432300|481835|490222|513077|578652|590733|623300|653877|682510|683220|730605|798608|798609|798610|815850|815851|815852|815853|815854|815855|818264|900996|900997|900998|900999|901000|901001|901002|901003|901004|901005|901006|901007|901008|901009|901010|901011|901012|901013|901014|901015|901016|901017|901018|901019|901020|901021|901022|901023|901024|901025|901026|901027|901028|901029|901030|901031|901032|901033|901034|901035|901036|901037|901038|901039|901040|901041|901042|901043|901044|901045|901046|901047|901048|901049|901050|901051|901052|903310|903311|903312|962164|964304|964837|970890|971377|983463", "text": "Nail-patella syndrome" }, { - "baseId": 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+ "upstreamId": "22053|22055|22056|22059|22060|22061|22062|22063|54481|54482|54484|54486|54489|54490|54491|54492|54496|54497|54498|54499|54501|54502|54503|54505|54506|54507|54508|54509|89105|175072|175073|175074|175075|175076|175081|175082|175082|175083|175085|175086|175090|175091|175348|175351|175352|175354|175359|175361|175366|227342|229977|229980|229983|229990|229993|229994|229999|230001|230004|237609|237610|237611|273542|312810|312811|312812|312818|312829|312830|312835|312839|312841|312846|312851|312852|312853|312857|318828|318835|318836|318859|318870|318882|318883|318889|318898|324933|324943|324948|324959|324960|324961|324966|324969|324970|324971|324978|324982|324992|325005|325006|325011|325783|325803|325813|325818|325819|325820|325823|325828|325856|325862|325864|325867|325869|325870|325874|325878|389963|404795|421833|489962|493527|536807|620387|654629|654630|654637|677281|677282|752490|857678|857679|859843|867348|867349|867350|867351|867352|867353|867354|867355|867356|867357|867358|867359|867360|867361|867362|867363|867364|867365|867366|867367|867368|867369|867370|867371|867372|867373|867374|867375|867376|867377|867378|867379|919328|919329|919330", "text": "Deafness, autosomal dominant 12" }, { - "baseId": "22054|22057|22058", + "upstreamId": "22054|22057|22058", "text": "Deafness, neurosensory autosomal recessive 21" }, { - "baseId": "22064|22065|29046|29049|29050|294660|519673|632527|651126|691638|698680|698681", + "upstreamId": "22064|22065|29046|29049|29050|294660|519673|632527|651126|691638|698680|698681", "text": "Lewy body dementia" }, { - "baseId": "22066|22067|22068|22069|22070|22071|22072|141994|141996|141997|141999|142000|142002|142003|142004|142005|142007|142008|142009|191659|200103|200104|200105|259828|298105|298109|298186|304681|304722|304723|304976|304981|304985|304986|368255|368260|368532|368547|368548|368554|368556|368719|369939|369945|369947|433709|455965|501261|513279|521604|538989|560494|565201|620784|634031|634034|634035|634036|651340|651355|655683|686764|691880|695303|699175|721540|735205|735206|735209|735213|744075|744253|749601|749602|749603|749604|749605|749606|759387|765216|765217|775052|775085|775195|782340|782343|782347|795723|819608|819609|819610|830965|830969|851038|851990|924115|932956|932957|932958|932959|932960|940012|944660|944661|944662|954198|954200|954201|954202|954203|959772|959773|978206|978207|978208|978210|978211|978213|978216", + "upstreamId": "22066|22067|22068|22069|22070|22071|22072|141994|141996|141997|141999|142000|142002|142003|142004|142005|142007|142008|142009|191659|200103|200104|200105|259828|298105|298109|298186|304681|304722|304723|304976|304981|304985|304986|368255|368260|368532|368547|368548|368554|368556|368719|369939|369945|369947|433709|455965|501261|513279|521604|538989|560494|565201|620784|634031|634034|634035|634036|651340|651355|655683|686764|691880|695303|699175|721540|735205|735206|735209|735213|744075|744253|749601|749602|749603|749604|749605|749606|759387|765216|765217|775052|775085|775195|782340|782343|782347|795723|819608|819609|819610|830965|830969|851038|851990|924115|932956|932957|932958|932959|932960|940012|944660|944661|944662|954198|954200|954201|954202|954203|959772|959773|978206|978207|978208|978210|978211|978213|978216", "text": "Homocystinuria-Megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type" }, { - "baseId": "22068|28672|141992", + "upstreamId": "22068|28672|141992", "text": "Neural tube defects, folate-sensitive, susceptibility to" }, { - "baseId": "22068", + "upstreamId": "22068", "text": "Down syndrome, susceptibility to" }, { - "baseId": "22068|227763|362505", + "upstreamId": "22068|227763|362505", "text": "methotrexate response - Toxicity/ADR" }, { - "baseId": "22073|22074|22075|22076|22077|22079|22080|22081|22082|22083|22084|22085|22086|22087|22089|22089|22090|22091|22092|22093|22094|49644|49645|49646|49647|59479|215779|239896|265741|267741|273419|299552|299558|299566|299567|299575|299576|299579|299582|299583|299589|299590|302087|302094|302095|302100|302101|302102|302104|302107|302111|302116|302128|302129|306507|306523|306524|306528|306531|306532|306546|306771|306772|306775|306783|306784|306785|306792|306808|306809|306811|306812|394996|394998|395072|395079|395080|395171|395226|395227|395228|395420|395426|395641|406849|413736|438347|455116|455265|455271|455272|455430|455450|455455|455534|455998|456260|456269|456276|521494|521887|550844|560399|560501|560506|560508|560654|560656|560658|560660|563258|563260|563480|563481|565508|565509|565522|634764|634766|634768|634771|634773|651540|651583|683770|683771|686815|798915|799032|819680|859497|895621|895622|895623|895624|895625|895626|895627|895628|895629|895630|895631|895632|895633|895634|895635|895636|895637|895638|895639|895640|895641|895642|895643|895644|895645|895646|895647|895648|895649|895650|895651|895652|895653|895654|895655|895656|895657|895658|895659|895660|895661|895662|895663|895664|896213|964910", + "upstreamId": "22073|22074|22075|22076|22077|22079|22080|22081|22082|22083|22084|22085|22086|22087|22089|22089|22090|22091|22092|22093|22094|49644|49645|49646|49647|59479|215779|239896|265741|267741|273419|299552|299558|299566|299567|299575|299576|299579|299582|299583|299589|299590|302087|302094|302095|302100|302101|302102|302104|302107|302111|302116|302128|302129|306507|306523|306524|306528|306531|306532|306546|306771|306772|306775|306783|306784|306785|306792|306808|306809|306811|306812|394996|394998|395072|395079|395080|395171|395226|395227|395228|395420|395426|395641|406849|413736|438347|455116|455265|455271|455272|455430|455450|455455|455534|455998|456260|456269|456276|521494|521887|550844|560399|560501|560506|560508|560654|560656|560658|560660|563258|563260|563480|563481|565508|565509|565522|634764|634766|634768|634771|634773|651540|651583|683770|683771|686815|798915|799032|819680|859497|895621|895622|895623|895624|895625|895626|895627|895628|895629|895630|895631|895632|895633|895634|895635|895636|895637|895638|895639|895640|895641|895642|895643|895644|895645|895646|895647|895648|895649|895650|895651|895652|895653|895654|895655|895656|895657|895658|895659|895660|895661|895662|895663|895664|896213|964910", "text": "Parkinson disease 2" }, { - "baseId": 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+ "upstreamId": "22088|23582|23584|27386|27388|27393|27394|27395|27397|27398|27403|27404|27405|27407|27408|27409|27422|27617|27641|27642|27645|27646|27650|27652|28691|28692|28694|28695|28698|28914|28915|28916|28939|28996|29000|29005|29006|29007|29009|29010|29011|29013|29022|30972|30973|31371|31648|31650|31967|31968|32616|32618|32619|32621|32622|32623|32625|32626|32627|32628|36171|36173|40609|44227|48304|48857|49030|50071|53970|53980|53985|54284|54289|54392|54406|70450|83949|133271|133272|133274|133276|139098|150515|150535|150855|151476|151595|151897|151955|152428|166215|171613|171614|174177|174254|176503|179419|180995|181000|181001|181005|185345|185350|185366|185367|185371|185375|185384|185394|186283|206650|213392|213398|213402|213943|214512|214513|224866|232035|236459|236461|236462|236463|236468|236469|236471|236477|236479|236481|239564|242978|242980|245074|260191|260192|263939|359197|360335|361709|362753|362759|362760|362761|362768|362770|362771|362772|362773|362774|362775|362822|362826|362859|362894|362895|362896|362904|362905|362912|362929|362952|362954|363011|363012|363013|363014|363015|363016|363017|363018|363036|363053|363067|363068|363110|363112|363113|363114|363121|363123|363165|363174|363179|363186|363194|363197|363201|363202|363210|363245|363246|363247|363248|363249|363250|363251|363253|363254|363255|363256|363257|363258|363259|363260|363264|363269|363270|363271|363272|363273|363293|363294|363295|363296|363297|363312|363321|363322|363323|363324|363325|363326|363327|363337|363338|363340|363341|363342|363343|363344|363345|363346|363347|363349|363350|363351|363352|363353|363354|363355|363356|363357|363360|363361|363362|363363|363367|363368|363369|363384|363385|363386|363393|363396|363397|363416|363417|363418|363419|363420|363421|363438|363439|363440|363441|363442|363443|363444|363445|363446|363447|363448|363449|363450|363451|363452|363453|363454|363455|363456|363457|363458|363459|363460|363461|363462|363463|363464|363465|363466|363467|363468|363469|363470|363471|363472|363473|363474|363475|363476|363477|363478|363479|363480|363481|363482|363483|363484|363485|363486|363487|363488|363489|363490|363491|363492|363493|363496|363497|363498|363499|363500|363501|363502|363503|363504|363505|363506|363507|363508|363512|363513|363514|363515|363516|363517|363518|363519|363520|363521|363522|363523|363524|363525|363526|363527|363528|363529|363530|363531|363532|363533|363534|363535|363536|363537|363538|363539|363540|363541|363542|363543|363544|363545|363546|363547|363548|363549|363550|363551|363552|363553|363554|363555|363556|363557|363558|363559|363560|363561|363562|363563|363564|363565|363566|363567|363568|363572|363573|363580|363587|424553|424554|424557|488234|550726|550727|550728", "text": "Lung adenocarcinoma" }, { - "baseId": "22089", + "upstreamId": "22089", "text": "Leprosy 2" }, { - "baseId": "22095|22096|22097|22098|22099|22100|22101|106635|106636|106637|106638|135507|135509|135510|135511|135512|135513|135514|135516|135517|135518|188929|206842|206843|281823|281824|281827|281834|282466|282467|282468|282472|282484|282486|284089|284095|284096|284100|284101|284102|284126|284127|284128|284131|284133|284134|284311|284313|284316|284317|284321|284335|284347|284348|284349|363693|365536|405294|427879|427880|440522|513246|535674|535675|535676|552048|552049|612346|612347|623129|697026|788741|789110|881040|881041|881042|881043|881044|881045|881046|881047|881048|881049|881050|881051|881052|881053|881054|881055|881056|881057|881058|881059|881060|881061|881062|881063|881064|881065|882796", + "upstreamId": "22095|22096|22097|22098|22099|22100|22101|106635|106636|106637|106638|135507|135509|135510|135511|135512|135513|135514|135516|135517|135518|188929|206842|206843|281823|281824|281827|281834|282466|282467|282468|282472|282484|282486|284089|284095|284096|284100|284101|284102|284126|284127|284128|284131|284133|284134|284311|284313|284316|284317|284321|284335|284347|284348|284349|363693|365536|405294|427879|427880|440522|513246|535674|535675|535676|552048|552049|612346|612347|623129|697026|788741|789110|881040|881041|881042|881043|881044|881045|881046|881047|881048|881049|881050|881051|881052|881053|881054|881055|881056|881057|881058|881059|881060|881061|881062|881063|881064|881065|882796", "text": "Warburg micro syndrome 1" }, { - "baseId": "22102|22103|22104|22105|22106|281251|281253|281869|281870|283115|283116|283121|283315|283316|283317|283318|283319|440521|448380|516087|556503|557376|557378|558597|628270|628271|650547|658097|690677|792720|794726|824426|864818|864819|864820|864821|864822|864823|865210|942104", + "upstreamId": "22102|22103|22104|22105|22106|281251|281253|281869|281870|283115|283116|283121|283315|283316|283317|283318|283319|440521|448380|516087|556503|557376|557378|558597|628270|628271|650547|658097|690677|792720|794726|824426|864818|864819|864820|864821|864822|864823|865210|942104", "text": "Parkinson disease 7" }, { - "baseId": "22109|22110|22111|22112|22113|22114|22115|22116|39224|45320|105689|168980|168981|168982|168983|168985|168986|168988|168989|168990|168992|168993|168994|168995|168996|168997|169004|169005|169007|169008|205017|205772|207972|207973|207976|213622|271629|359970|360041|360041|408686|425993|429430|429432|429435|432218|481496|553386|576155|581957|611416|611417|613819|621031|677055|788867|791253|855109|855110|855111|855112|861574|861575|964389|965453|965987|966890", + "upstreamId": "22109|22110|22111|22112|22113|22114|22115|22116|39224|45320|105689|168980|168981|168982|168983|168985|168986|168988|168989|168990|168992|168993|168994|168995|168996|168997|169004|169005|169007|169008|205017|205772|207972|207973|207976|213622|271629|359970|360041|360041|408686|425993|429430|429432|429435|432218|481496|553386|576155|581957|611416|611417|613819|621031|677055|788867|791253|855109|855110|855111|855112|861574|861575|964389|965453|965987|966890", "text": "Lissencephaly 3" }, { - "baseId": "22109|22110|22111|22112|22113|22114|22115|22116|39224|168980|168981|168982|168983|168985|168986|168988|168990|168992|168994|168996|168997|169004|169005|169007|188844|205017|205772|207972|207973|207976|213622|260021|260022|271629|359970|360041|372337|373114|373308|375180|408686|408687|408688|408689|408690|408691|415338|415339|415340|421929|421930|421931|425988|425989|425990|425992|425993|429430|429432|429435|431921|432218|445034|445035|445036|445037|481496|512020|512021|512022|512023|613776|613777|613778|613779|613780|613781|613782|613783|613784|613786|613787|613788|613789|613790|613792|613793|613795|613796|613797|613798|613801|613802|613803|613804|613807|613808|613809|613810|613811|613812|613813|613814|613815|613816|613817|613819|613820|613821|613822|613825", + "upstreamId": "22109|22110|22111|22112|22113|22114|22115|22116|39224|168980|168981|168982|168983|168985|168986|168988|168990|168992|168994|168996|168997|169004|169005|169007|188844|205017|205772|207972|207973|207976|213622|260021|260022|271629|359970|360041|372337|373114|373308|375180|408686|408687|408688|408689|408690|408691|415338|415339|415340|421929|421930|421931|425988|425989|425990|425992|425993|429430|429432|429435|431921|432218|445034|445035|445036|445037|481496|512020|512021|512022|512023|613776|613777|613778|613779|613780|613781|613782|613783|613784|613786|613787|613788|613789|613790|613792|613793|613795|613796|613797|613798|613801|613802|613803|613804|613807|613808|613809|613810|613811|613812|613813|613814|613815|613816|613817|613819|613820|613821|613822|613825", "text": "Tubulinopathies" }, { - "baseId": "22117|22118|22119|53746|53750|102599|107268|174271|174406|174407|229297|295774|297585|301477|301691|301693|301711|301716|301720|360866|537472|609580|861622|893196|893197|893198|893199|893200|893201|893202|961807|961808|961809|961810", + "upstreamId": "22117|22118|22119|53746|53750|102599|107268|174271|174406|174407|229297|295774|297585|301477|301691|301693|301711|301716|301720|360866|537472|609580|861622|893196|893197|893198|893199|893200|893201|893202|961807|961808|961809|961810", "text": "Deafness, autosomal dominant 15" }, { - "baseId": "22120", + "upstreamId": "22120", "text": "Low density lipoprotein cholesterol level quantitative trait locus 6" }, { - "baseId": "22121|22122", + "upstreamId": "22121|22122", "text": "Colorectal cancer with chromosomal instability, somatic" }, { - "baseId": "22123|22124", + "upstreamId": "22123|22124", "text": "PARAOXONASE 2 POLYMORPHISM" }, { - "baseId": "22125|22126|22127|22128|22129|237081|289457|289465|289466|289473|289474|289479|290230|290236|290239|290240|290245|293317|293320|293329|293333|293334|293346|293348|293349|293751|293757|293763|293767|353642|353645|451904|451912|451918|451921|452123|452280|452283|452287|452290|452360|452364|452366|452378|518953|518962|519126|519129|519136|519139|558832|559367|561241|561243|561245|562537|562541|576721|631025|631026|631027|631028|631029|651074|763724|781608|819347|819349|827656|827657|827658|827659|827660|827661|851546|888361|888362|888363|888364|888365|891617|891618|923081|923082|923083|923084|923085|923086|943396|943397|943398|953380|953381|964216", + "upstreamId": "22125|22126|22127|22128|22129|237081|289457|289465|289466|289473|289474|289479|290230|290236|290239|290240|290245|293317|293320|293329|293333|293334|293346|293348|293349|293751|293757|293763|293767|353642|353645|451904|451912|451918|451921|452123|452280|452283|452287|452290|452360|452364|452366|452378|518953|518962|519126|519129|519136|519139|558832|559367|561241|561243|561245|562537|562541|576721|631025|631026|631027|631028|631029|651074|763724|781608|819347|819349|827656|827657|827658|827659|827660|827661|851546|888361|888362|888363|888364|888365|891617|891618|923081|923082|923083|923084|923085|923086|943396|943397|943398|953380|953381|964216", "text": "Encephalopathy, familial, with neuroserpin inclusion bodies" }, { - "baseId": "22130", + "upstreamId": "22130", "text": "Tuberculosis, susceptibility to" }, { - "baseId": "22130|25399|25402|25406|25407|25411|25425|25428|404771|404772|404773|578461|816347", + "upstreamId": "22130|25399|25402|25406|25407|25411|25425|25428|404771|404772|404773|578461|816347", "text": "Susceptibility to malaria" }, { - "baseId": "22130", + "upstreamId": "22130", "text": "Bacteremia, susceptibility to, 2" }, { - "baseId": "22131|22132|22133|22134|255854|326089|326093|326094|326095|326097|335767|335771|335776|335777|335779|335782|335783|342106|342115|342117|342122|342127|342131|342133|342136|342142|342143|343633|343634|343638|343641|343649|343656|343658|343664|466544|466793|466795|466799|513361|570319|570321|570347|574099|576173|620880|875770|875771|875772|875773|875774|875775|875776|875777|875778|875779|875780|875781|875782|875783|875784|875785|875786|875787|875788|875789|876704|919671|937527", + "upstreamId": "22131|22132|22133|22134|255854|326089|326093|326094|326095|326097|335767|335771|335776|335777|335779|335782|335783|342106|342115|342117|342122|342127|342131|342133|342136|342142|342143|343633|343634|343638|343641|343649|343656|343658|343664|466544|466793|466795|466799|513361|570319|570321|570347|574099|576173|620880|875770|875771|875772|875773|875774|875775|875776|875777|875778|875779|875780|875781|875782|875783|875784|875785|875786|875787|875788|875789|876704|919671|937527", "text": "Cataract 5 multiple types" }, { - "baseId": "22135|22136|22137|22137|22138|101917|253708|253709|253710|260885|320645|321211|321213|321224|460629|525242|564400|564407|569552|569554|638772|638773|652314|692805|692807|692808|737406|820193|820194|820195|836694|851766|852234|934978|934979|946839|956006", + "upstreamId": "22135|22136|22137|22137|22138|101917|253708|253709|253710|260885|320645|321211|321213|321224|460629|525242|564400|564407|569552|569554|638772|638773|652314|692805|692807|692808|737406|820193|820194|820195|836694|851766|852234|934978|934979|946839|956006", "text": "Glaucoma 1, open angle, e" }, { - "baseId": "22137|22137|22138|22139|22140|22141|101916|101917|101917|195007|253708|253708|253709|253709|253710|260885|309724|309725|309726|309727|309732|309734|309739|309743|314575|314577|314579|314580|314581|314594|314622|314630|320644|320645|320645|320651|320654|320655|320656|320657|320658|320662|321180|321188|321189|321201|321211|321211|321213|321213|321216|321224|321224|321225|321235|321239|441368|460629|525242|564400|564407|569552|569554|620347|638772|638773|652314|692805|692805|692807|692808|737406|820193|820194|820195|836694|851766|852234|861365|861366|861367|861368|865595|865596|865597|865598|865599|865600|865601|865602|865603|865604|865605|865606|865607|865608|868457|934978|934979|946839|956006|980496", + "upstreamId": "22137|22137|22138|22139|22140|22141|101916|101917|101917|195007|253708|253708|253709|253709|253710|260885|309724|309725|309726|309727|309732|309734|309739|309743|314575|314577|314579|314580|314581|314594|314622|314630|320644|320645|320645|320651|320654|320655|320656|320657|320658|320662|321180|321188|321189|321201|321211|321211|321213|321213|321216|321224|321224|321225|321235|321239|441368|460629|525242|564400|564407|569552|569554|620347|638772|638773|652314|692805|692805|692807|692808|737406|820193|820194|820195|836694|851766|852234|861365|861366|861367|861368|865595|865596|865597|865598|865599|865600|865601|865602|865603|865604|865605|865606|865607|865608|868457|934978|934979|946839|956006|980496", "text": "Amyotrophic lateral sclerosis type 12" }, { - "baseId": "22137|22137|22138|22783|22988|101916|101917|101917|132463|132467|132468|132469|132470|132471|195007|226781|226782|226783|226784|226785|243828|251608|253708|253708|253709|253709|253710|260885|294835|294873|296586|296605|296614|296677|300278|300279|300299|300349|300353|300385|300410|309724|309725|309726|309727|309732|309734|309739|309743|314575|314577|314579|314580|314581|314594|314616|314619|314621|314622|314630|320644|320645|320645|320651|320654|320655|320656|320657|320658|320662|321180|321188|321189|321201|321211|321211|321213|321213|321216|321224|321224|321225|321235|321239|353123|353124|353675|441368|460629|525242|564400|564407|569552|569554|620347|638772|638773|652314|692805|692805|692807|692808|737406|790945|820193|820194|820195|836694|851766|852234|865595|865596|865597|865598|865599|865600|865601|865602|865603|865604|865605|865606|865607|865608|868457|919261|920282|934978|934979|946839|956006", + "upstreamId": "22137|22137|22138|22783|22988|101916|101917|101917|132463|132467|132468|132469|132470|132471|195007|226781|226782|226783|226784|226785|243828|251608|253708|253708|253709|253709|253710|260885|294835|294873|296586|296605|296614|296677|300278|300279|300299|300349|300353|300385|300410|309724|309725|309726|309727|309732|309734|309739|309743|314575|314577|314579|314580|314581|314594|314616|314619|314621|314622|314630|320644|320645|320645|320651|320654|320655|320656|320657|320658|320662|321180|321188|321189|321201|321211|321211|321213|321213|321216|321224|321224|321225|321235|321239|353123|353124|353675|441368|460629|525242|564400|564407|569552|569554|620347|638772|638773|652314|692805|692805|692807|692808|737406|790945|820193|820194|820195|836694|851766|852234|865595|865596|865597|865598|865599|865600|865601|865602|865603|865604|865605|865606|865607|865608|868457|919261|920282|934978|934979|946839|956006", "text": "Primary open angle glaucoma" }, { - "baseId": "22138|294184", + "upstreamId": "22138|294184", "text": "Glaucoma, normal tension, susceptibility to" }, { - "baseId": "22142|22143|226080|226081|226082|227265|291567|291568|291570|291575|291577|291581|291583|291591|291594|291597|291600|291604|291605|291609|291611|291615|291617|291621|291623|291625|291626|291629|291635|291640|291641|291646|291647|291648|291652|291653|292842|292843|292853|292854|292860|292861|292871|292894|292900|292908|292909|292918|292923|292930|292931|292934|292935|292936|292938|292940|292943|292945|292954|292956|292957|292958|292961|292977|296178|296180|296182|296200|296201|296202|296203|296205|296206|296208|296209|296210|296212|296215|296217|296218|296220|296221|296222|296225|296226|296229|296230|296238|296240|296242|296244|296249|296250|296251|296252|296254|296256|296257|296259|296268|296271|296272|296282|296283|296284|296295|296296|296297|508789|508790|889654|889655|889656|889657|889658|889659|889660|889661|889662|889663|889664|889665|889666|889667|889668|889669|889670|889671|889672|889673|889674|889675|889676|889677|889678|889679|889680|889681|889682|889683|889684|889685|889686|889687|889688|889689|889690|889691|889692|889693|889694|889695|889696|889697|889698|889699|889700|889701|889702|889703|918859", + "upstreamId": "22142|22143|226080|226081|226082|227265|291567|291568|291570|291575|291577|291581|291583|291591|291594|291597|291600|291604|291605|291609|291611|291615|291617|291621|291623|291625|291626|291629|291635|291640|291641|291646|291647|291648|291652|291653|292842|292843|292853|292854|292860|292861|292871|292894|292900|292908|292909|292918|292923|292930|292931|292934|292935|292936|292938|292940|292943|292945|292954|292956|292957|292958|292961|292977|296178|296180|296182|296200|296201|296202|296203|296205|296206|296208|296209|296210|296212|296215|296217|296218|296220|296221|296222|296225|296226|296229|296230|296238|296240|296242|296244|296249|296250|296251|296252|296254|296256|296257|296259|296268|296271|296272|296282|296283|296284|296295|296296|296297|508789|508790|889654|889655|889656|889657|889658|889659|889660|889661|889662|889663|889664|889665|889666|889667|889668|889669|889670|889671|889672|889673|889674|889675|889676|889677|889678|889679|889680|889681|889682|889683|889684|889685|889686|889687|889688|889689|889690|889691|889692|889693|889694|889695|889696|889697|889698|889699|889700|889701|889702|889703|918859", "text": "Vesicoureteral reflux 2" }, { - "baseId": "22142|22143|23410|23410|190824|216789|226070|226071|226072|226079|226081|226082|226085|226087|226092|226093|226094|237224|291575|299774|353877|491288|539162|553567|622098|622100|623434|672234|672235|672263|672264|692527|889672|983661|983662|983665|983666|983667|983668|983669|983670|983671|983736|983737|983744|983804|983805|983806", + "upstreamId": "22142|22143|23410|23410|190824|216789|226070|226071|226072|226079|226081|226082|226085|226087|226092|226093|226094|237224|291575|299774|353877|491288|539162|553567|622098|622100|623434|672234|672235|672263|672264|692527|889672|983661|983662|983665|983666|983667|983668|983669|983670|983671|983736|983737|983744|983804|983805|983806", "text": "Congenital anomalies of kidney and urinary tract" }, { - "baseId": "22144|205614", + "upstreamId": "22144|205614", "text": "Bronchiectasis with or without elevated sweat chloride 1, modifier of" }, { - "baseId": 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+ "upstreamId": "22144|22148|22150|22154|22154|22157|22159|22159|22161|22168|22170|22178|22183|22194|22203|22205|22229|22233|22237|23217|23219|26915|26916|26916|26917|26918|26919|26920|26921|26922|26923|26924|28799|28800|28801|28803|28804|28805|33858|38878|44485|44490|44497|44499|44501|44503|44506|44529|44540|44549|44557|45365|45366|45367|45439|45440|45441|45442|46925|46928|47058|47062|47333|47335|52745|57842|57850|57854|67842|67908|67925|68006|68128|68169|68229|68274|68413|68465|68552|68579|68674|68685|68703|77006|99060|136364|136364|136365|136366|136367|136368|136370|136371|136372|136374|136464|171710|171711|171712|171713|171714|171715|238139|238140|238141|238142|238143|238144|239767|239768|239769|239770|239771|239772|239773|239988|239989|249402|249403|249404|251795|251796|251797|252638|252639|252641|252642|262405|265410|276506|276507|276729|276735|276737|277288|277302|277306|277307|277314|277377|277378|277383|277389|295901|301628|301637|301696|301812|353064|389795|390793|390798|390806|390810|390817|394831|394832|395245|395425|395442|395446|395647|395650|395831|395909|396065|396091|396092|396101|421170|432973|432976|432977|432978|432979|432980|432981|432982|432983|432984|432985|433010|433013|433016|433046|433048|442477|447225|454062|455518|455523|456419|456421|456732|456732|456736|457002|457003|457446|487129|487199|487259|489825|489830|508821|508822|514864|515144|520159|521091|521300|522343|522608|522612|522615|523064|523078|537681|537775|556485|556653|556655|556657|556935|556937|556939|558116|558118|558120|558122|559831|561559|561562|561564|561570|561582|562906|562907|563843|564137|564140|564141|564881|566053|566504|566508|609347|609348|609351|609352|609581|609658|612280|621737|626854|626855|626856|626857|626858|626859|626860|626861|626862|626863|626864|626865|633552|635794|635795|635796|635797|635798|635799|635800|635801|635802|635803|635804|635805|650522|650529|650622|650665|651225|651606|651703|685565|685566|689857|690361|745711|766136|799107|799108|799109|799110|799111|799112|799113|799114|799115|799116|799117|799118|806444|806447|806449|808571|808976|808978|815210|818814|818815|819563|819828|819829|819830|819832|822755|822756|822757|822758|822759|822760|830426|830427|833226|833227|833228|833229|833230|833231|852341|862353|862354|862355|862356|862357|862358|864982|864983|893271|893272|893273|893274|923917|924717|924718|930044|930045|930046|930047|933718|933719|933720|933721|933722|941461|941462|941463|945490|945491|955074|959840|959841|961849|961851|981219|981220|981221|981222|981223|981224|981225|981226|981227|981228|981229|981592|981593", "text": "Hereditary pancreatitis" }, { - "baseId": "22144|22147|22148|22150|22155|22157|22159|22181|22198|22203|22221|22229|22237|22256|44529|44530|44531|44545|47338|57854|67993|68032|68093|68243|68269|68339|68353|68356|68382|68465|68673|193438|538601", + "upstreamId": "22144|22147|22148|22150|22155|22157|22159|22181|22198|22203|22221|22229|22237|22256|44529|44530|44531|44545|47338|57854|67993|68032|68093|68243|68269|68339|68353|68356|68382|68465|68673|193438|538601", "text": "ivacaftor response - Efficacy" }, { - "baseId": "22144", + "upstreamId": "22144", "text": "ivacaftor / lumacaftor response - Efficacy" }, { - "baseId": "22144", + "upstreamId": "22144", "text": "Duodenal stenosis" }, { - "baseId": "22144|46925", + "upstreamId": "22144|46925", "text": "Recurrent pancreatitis" }, { - "baseId": "22144|22145|22146|22147|22148|22148|22148|22149|22150|22150|22151|22152|22153|22154|22154|22155|22157|22157|22158|22159|22159|22161|22161|22162|22163|22166|22167|22168|22168|22173|22175|22176|22178|22178|22180|22182|22183|22183|22189|22194|22194|22197|22199|22201|22203|22204|22205|22207|22210|22211|22221|22224|22225|22226|22229|22229|22233|22233|22237|22237|22242|22247|22262|22270|22271|22279|33858|33858|44485|44485|44486|44487|44488|44495|44497|44497|44499|44500|44501|44502|44506|44510|44513|44514|44518|44521|44525|44528|44529|44530|44531|44532|44539|44554|44557|46824|47057|47058|47058|47059|47062|47062|47331|47333|47333|47335|47335|47338|47340|48115|57834|57842|57842|57843|57846|57847|57850|57850|57854|57854|57866|57870|67830|67835|67858|67864|67886|67897|67901|67905|67910|67913|67943|67985|67993|68006|68006|68020|68033|68042|68052|68071|68072|68085|68093|68108|68109|68128|68139|68148|68151|68155|68160|68171|68197|68220|68229|68243|68248|68269|68270|68272|68274|68274|68282|68295|68308|68320|68340|68348|68352|68353|68356|68358|68379|68465|68465|68472|68479|68508|68512|68513|68550|68579|68597|68614|68616|68629|68638|68641|68658|68674|68677|68679|68681|68685|68685|68693|68703|68703|68708|68722|68725|68736|68756|68764|77003|174036|186747|205614|247420|247421|247422|270918|357574|357574|357575|357582|396065|432617|432629|480439|485739|487199|487214|487243|487259|544223|544495|544513|544518|544530|587967|610320|610342|610349|679347|679348|679349|679350|679351|679352|789477|801646|801647|801648|801649", + "upstreamId": "22144|22145|22146|22147|22148|22148|22148|22149|22150|22150|22151|22152|22153|22154|22154|22155|22157|22157|22158|22159|22159|22161|22161|22162|22163|22166|22167|22168|22168|22173|22175|22176|22178|22178|22180|22182|22183|22183|22189|22194|22194|22197|22199|22201|22203|22204|22205|22207|22210|22211|22221|22224|22225|22226|22229|22229|22233|22233|22237|22237|22242|22247|22262|22270|22271|22279|33858|33858|44485|44485|44486|44487|44488|44495|44497|44497|44499|44500|44501|44502|44506|44510|44513|44514|44518|44521|44525|44528|44529|44530|44531|44532|44539|44554|44557|46824|47057|47058|47058|47059|47062|47062|47331|47333|47333|47335|47335|47338|47340|48115|57834|57842|57842|57843|57846|57847|57850|57850|57854|57854|57866|57870|67830|67835|67858|67864|67886|67897|67901|67905|67910|67913|67943|67985|67993|68006|68006|68020|68033|68042|68052|68071|68072|68085|68093|68108|68109|68128|68139|68148|68151|68155|68160|68171|68197|68220|68229|68243|68248|68269|68270|68272|68274|68274|68282|68295|68308|68320|68340|68348|68352|68353|68356|68358|68379|68465|68465|68472|68479|68508|68512|68513|68550|68579|68597|68614|68616|68629|68638|68641|68658|68674|68677|68679|68681|68685|68685|68693|68703|68703|68708|68722|68725|68736|68756|68764|77003|174036|186747|205614|247420|247421|247422|270918|357574|357574|357575|357582|396065|432617|432629|480439|485739|487199|487214|487243|487259|544223|544495|544513|544518|544530|587967|610320|610342|610349|679347|679348|679349|679350|679351|679352|789477|801646|801647|801648|801649", "text": "Congenital bilateral aplasia of vas deferens from CFTR mutation" }, { - "baseId": 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+ "upstreamId": 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"text": "CFTR-related disorders" }, { - "baseId": "22148|22150|22154|22157|22159|22161|22168|22178|22183|22194|22205|22229|22233|22237|23871|23877|23878|23879|23880|23881|23882|23883|33858|44485|44497|44499|44501|44506|44557|47058|47062|47333|47335|57842|57850|57854|68006|68229|68274|68465|68579|68674|68685|68703|176011|176012|176013|176014|176154|176156|176157|230632|230633|255672|324718|324720|324721|324723|324726|324727|324730|324735|334300|334301|334307|334317|334318|334319|334320|340948|340950|340954|340958|340959|340960|340968|340972|342413|342420|342424|342427|342429|342436|396065|487199|487259|874936|874937|874938|874939|874940|874941|874942|874943|874944|874945|874946|874947|874948|874949|874950|874951|874952|874953|874954|874955|876643|876644", + "upstreamId": "22148|22150|22154|22157|22159|22161|22168|22178|22183|22194|22205|22229|22233|22237|23871|23877|23878|23879|23880|23881|23882|23883|33858|44485|44497|44499|44501|44506|44557|47058|47062|47333|47335|57842|57850|57854|68006|68229|68274|68465|68579|68674|68685|68703|176011|176012|176013|176014|176154|176156|176157|230632|230633|255672|324718|324720|324721|324723|324726|324727|324730|324735|334300|334301|334307|334317|334318|334319|334320|340948|340950|340954|340958|340959|340960|340968|340972|342413|342420|342424|342427|342429|342436|396065|487199|487259|874936|874937|874938|874939|874940|874941|874942|874943|874944|874945|874946|874947|874948|874949|874950|874951|874952|874953|874954|874955|876643|876644", "text": "Bronchiectasis with or without elevated sweat chloride 1" }, { - "baseId": "22154|22168|362498", + "upstreamId": "22154|22168|362498", "text": "ataluren response - Efficacy" }, { - "baseId": "22204|44499", + "upstreamId": "22204|44499", "text": "Chronic sinusitis" }, { - "baseId": "22204|44499|44503|68754", + "upstreamId": "22204|44499|44503|68754", "text": "Lung disease, non-specific" }, { - "baseId": "22231", + "upstreamId": "22231", "text": "Ivacaftor response" }, { - "baseId": "22262", + "upstreamId": "22262", "text": "Sweat chloride elevation without cystic fibrosis" }, { - "baseId": "22268", + "upstreamId": "22268", "text": "Pancreatitis, idiopathic, susceptibility to" }, { - "baseId": "22268", + "upstreamId": "22268", "text": "Hypertrypsinemia, neonatal, susceptibility to" }, { - "baseId": "22268|52745", + "upstreamId": "22268|52745", "text": "Pancreatitis" }, { - "baseId": "22280|22280|22281|22281|22282|22283|50212|50214|50215|50215|138933|138934|151597|152618|171051|172491|181595|181596|181598|181599|181600|181600|181603|187698|195315|221084|232167|232168|238107|238158|238159|238160|238161|238162|238162|238163|238164|238164|238165|238166|238167|238168|238169|238169|277948|353066|358695|358695|358696|358697|358697|359203|390713|390714|390719|390847|390853|390856|390861|390863|390864|390864|390865|390866|390867|390868|390869|390871|390872|390873|390874|390874|390875|390879|390881|390883|390884|390885|390886|390887|390888|390889|390902|420733|420734|420736|432491|446908|446909|446921|446924|447261|447263|447265|447326|447330|447331|447335|447336|447378|447380|447384|447384|447388|447403|447405|447444|447448|447449|447454|447455|447458|472267|472269|472270|472275|514871|515238|515247|515248|515249|515251|515254|515255|515256|515266|515269|515271|515272|515275|515277|515343|515347|550200|556668|556670|556672|556672|556674|556676|556678|556680|556727|556729|556731|556863|556869|556870|557016|557018|557020|557022|557024|557026|557028|558204|558206|558208|558210|558212|558214|558216|627029|627030|627031|627032|627033|627034|627035|627036|627037|627038|627040|627041|627042|627043|627044|627045|627046|627047|627048|627049|627050|627051|627052|627053|627054|650532|650551|650557|650563|650642|683293|690403|690404|690405|690406|777040|780365|780366|787026|806455|806457|815211|818848|818851|818852|818853|818854|818855|818856|818857|818858|818859|818860|822945|822946|822947|822948|822949|822950|822951|822952|822953|822954|822955|822956|822957|822958|822959|822960|822961|822962|850742|851192|921722|921723|921724|921725|921726|930124|930125|930126|930127|930128|930129|930130|930131|939780|941549|941550|941551|941552|952126|952127|952128|952129|952130|952131|959527|959528|960411|966354", + "upstreamId": "22280|22280|22281|22281|22282|22283|50212|50214|50215|50215|138933|138934|151597|152618|171051|172491|181595|181596|181598|181599|181600|181600|181603|187698|195315|221084|232167|232168|238107|238158|238159|238160|238161|238162|238162|238163|238164|238164|238165|238166|238167|238168|238169|238169|277948|353066|358695|358695|358696|358697|358697|359203|390713|390714|390719|390847|390853|390856|390861|390863|390864|390864|390865|390866|390867|390868|390869|390871|390872|390873|390874|390874|390875|390879|390881|390883|390884|390885|390886|390887|390888|390889|390902|420733|420734|420736|432491|446908|446909|446921|446924|447261|447263|447265|447326|447330|447331|447335|447336|447378|447380|447384|447384|447388|447403|447405|447444|447448|447449|447454|447455|447458|472267|472269|472270|472275|514871|515238|515247|515248|515249|515251|515254|515255|515256|515266|515269|515271|515272|515275|515277|515343|515347|550200|556668|556670|556672|556672|556674|556676|556678|556680|556727|556729|556731|556863|556869|556870|557016|557018|557020|557022|557024|557026|557028|558204|558206|558208|558210|558212|558214|558216|627029|627030|627031|627032|627033|627034|627035|627036|627037|627038|627040|627041|627042|627043|627044|627045|627046|627047|627048|627049|627050|627051|627052|627053|627054|650532|650551|650557|650563|650642|683293|690403|690404|690405|690406|777040|780365|780366|787026|806455|806457|815211|818848|818851|818852|818853|818854|818855|818856|818857|818858|818859|818860|822945|822946|822947|822948|822949|822950|822951|822952|822953|822954|822955|822956|822957|822958|822959|822960|822961|822962|850742|851192|921722|921723|921724|921725|921726|930124|930125|930126|930127|930128|930129|930130|930131|939780|941549|941550|941551|941552|952126|952127|952128|952129|952130|952131|959527|959528|960411|966354", "text": "Paragangliomas 3" }, { - "baseId": "22283|152315|181616|187697|187698|187699", + "upstreamId": "22283|152315|181616|187697|187698|187699", "text": "Carney triad" }, { - "baseId": "22284|22285|22286|94533|240848|311240|311253|316666|322670|322671|322682|322683|322688|322695|322696|323397|323403|540530|685276|866348|866349|866350|866351|866352|868512|868513|961957", + "upstreamId": "22284|22285|22286|94533|240848|311240|311253|316666|322670|322671|322682|322683|322688|322695|322696|323397|323403|540530|685276|866348|866349|866350|866351|866352|868512|868513|961957", "text": "Diamond-Blackfan anemia 3" }, { - "baseId": "22287", + "upstreamId": "22287", "text": "BLEOMYCIN HYDROLASE POLYMORPHISM" }, { - "baseId": "22288|22289|22290|22291|22292|22293|22294|22295|22296|22298|22299|22300|538459|590466|590467|590468|590469|612133|679796|904912|975870|983466", + "upstreamId": "22288|22289|22290|22291|22292|22293|22294|22295|22296|22298|22299|22300|538459|590466|590467|590468|590469|612133|679796|904912|975870|983466", "text": "Distichiasis-lymphedema syndrome" }, { - "baseId": "22297", + "upstreamId": "22297", "text": "Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus" }, { - "baseId": "22301|22302|22303|22304|22305|22306|22308|22310|22312|22313|28736|131915|131916|192408|192844|193434|195693|214536|214537|217180|217181|217182|256685|256686|256687|256688|256689|256690|256691|256692|256693|256694|256695|256696|256698|256699|265376|266813|271041|271122|272947|273423|273794|275208|275489|331906|331907|331910|331916|331917|331921|331922|331924|331925|331935|331936|331944|331945|331946|331948|331949|342146|342149|342150|342152|342157|342161|342163|342165|342167|347495|347497|347498|347499|347508|347511|347515|347520|347524|347525|347533|347535|347538|347539|348880|348881|348883|348885|348889|348890|348896|348897|348899|348902|348912|348914|348915|348918|348919|369991|376934|376934|377123|379090|379097|489849|490899|492019|492177|584224|584239|585559|585567|586303|586666|586682|587741|620625|620900|620901|682855|790753|790754|790755|790756|790757|790758|791876|791877|791878|792813|792813|879471|879472|879473|879474|879475|879476|879477|879478|879479|879480|879481|879482|879483|879484|879485|879486|879487|879488|879489|879490|879491|879492|879493|879494|879495|879496|879497|879498|879499|879500|879501|879502|879503|879504|879505|879506|879507|879508|879509|879510|879511|879512|879513|879514|879515|879516|880667|880668|880669", + "upstreamId": "22301|22302|22303|22304|22305|22306|22308|22310|22312|22313|28736|131915|131916|192408|192844|193434|195693|214536|214537|217180|217181|217182|256685|256686|256687|256688|256689|256690|256691|256692|256693|256694|256695|256696|256698|256699|265376|266813|271041|271122|272947|273423|273794|275208|275489|331906|331907|331910|331916|331917|331921|331922|331924|331925|331935|331936|331944|331945|331946|331948|331949|342146|342149|342150|342152|342157|342161|342163|342165|342167|347495|347497|347498|347499|347508|347511|347515|347520|347524|347525|347533|347535|347538|347539|348880|348881|348883|348885|348889|348890|348896|348897|348899|348902|348912|348914|348915|348918|348919|369991|376934|376934|377123|379090|379097|489849|490899|492019|492177|584224|584239|585559|585567|586303|586666|586682|587741|620625|620900|620901|682855|790753|790754|790755|790756|790757|790758|791876|791877|791878|792813|792813|879471|879472|879473|879474|879475|879476|879477|879478|879479|879480|879481|879482|879483|879484|879485|879486|879487|879488|879489|879490|879491|879492|879493|879494|879495|879496|879497|879498|879499|879500|879501|879502|879503|879504|879505|879506|879507|879508|879509|879510|879511|879512|879513|879514|879515|879516|880667|880668|880669", "text": "Cholestasis, progressive familial intrahepatic 1" }, { - "baseId": "22306|22307|22309|22310|376934|489849", + "upstreamId": "22306|22307|22309|22310|376934|489849", "text": "Cholestasis, benign recurrent intrahepatic 1" }, { - "baseId": "22310|22311|376934|489849|792813", + "upstreamId": "22310|22311|376934|489849|792813", "text": "Cholestasis of pregnancy" }, { - "baseId": "22313|961887", + "upstreamId": "22313|961887", "text": "Familial intrahepatic cholestasis type 1" }, { - "baseId": "22314|141562|141563|141565|211711|211713|211715|211717|324910|324911|324922|324925|324929|324931|334519|334522|334524|334530|334534|334538|334559|341082|341084|341086|341093|341100|341101|341108|341112|342622|342623|342627|342629|342631|342632|359087|359088|375042|413437|481497|505551|875059|875060|875061|875062|875063|875064|875065|875066|875067|875068|875069|875070|875071|875072|876649", + "upstreamId": "22314|141562|141563|141565|211711|211713|211715|211717|324910|324911|324922|324925|324929|324931|334519|334522|334524|334530|334534|334538|334559|341082|341084|341086|341093|341100|341101|341108|341112|342622|342623|342627|342629|342631|342632|359087|359088|375042|413437|481497|505551|875059|875060|875061|875062|875063|875064|875065|875066|875067|875068|875069|875070|875071|875072|876649", "text": "Combined oxidative phosphorylation deficiency 4" }, { - "baseId": 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+ "upstreamId": "22315|22318|22319|22320|22321|22324|22326|137717|137718|137719|137720|140833|140834|169456|169457|169458|169459|169461|169464|169468|169470|169471|169472|192264|213426|213427|215729|222761|232067|232069|243082|245107|245108|245112|245114|245115|245116|245120|245121|256745|256746|256747|272211|332387|332392|332399|332401|332403|332406|332407|332409|332411|332413|332414|332418|332419|332430|342541|342541|342542|342549|342568|342570|342577|347936|347937|347944|347947|347949|347950|347954|347961|347964|347965|349249|349250|349252|349254|349257|349258|349262|349264|349266|349268|349273|349274|349276|361497|376113|377055|377223|377232|379186|402871|403339|403340|403343|403344|403369|410418|442037|442038|442040|442041|446021|468210|468215|468223|468225|468230|469096|469097|469101|469506|469513|469953|469962|469966|469970|469976|490018|506425|506445|506453|506454|506647|507078|507472|532411|532417|532426|532427|532428|532433|532435|532476|532477|532480|532486|532533|532542|532543|532546|532897|532902|553398|570345|570350|570353|570354|570359|570365|570366|570372|572055|572058|572059|572063|572064|572066|572072|572694|572746|572748|572750|572751|574808|574810|574812|574814|574816|574818|574820|577700|647450|647451|647452|647453|647454|647455|647456|647457|647458|647459|647460|647461|647462|647463|647464|647465|647466|647467|647468|647469|647470|647471|647472|647473|647474|647475|647476|647477|647478|647479|647480|647481|647482|652980|653100|653130|684769|684770|684771|688943|688944|688946|688947|688948|690198|690199|694300|694301|694302|694304|694305|695799|704729|756632|760733|772302|776819|778483|785998|793721|804747|821205|821206|821207|821208|821209|847066|847067|847068|847069|847070|847071|847072|847073|847074|847075|847076|847077|847078|847079|847080|847081|847082|847083|847084|847085|847086|847087|847088|847089|847090|847091|851783|851785|852830|852832|852944|879803|879804|879805|879806|879807|879808|879809|879810|879811|879812|879813|879814|879815|879816|879817|879818|879819|879820|879821|879822|879823|880687|919815|928786|928787|928788|928789|928790|928791|928792|928793|928794|938512|938513|938514|938515|938516|938517|938518|938519|938520|938521|938522|940462|950604|950605|950606|950607|950608|950609|950610|950611|950612|950613|958510|958511|960274", "text": "Charcot-Marie-Tooth disease, dominant intermediate B" }, { - "baseId": "22316|22317", + "upstreamId": "22316|22317", "text": "Charcot-Marie-Tooth disease, dominant intermediate b, with neutropenia" }, { - "baseId": "22318|22319|22320|22321|22324|29192|137717|137718|140833|140834|169456|169457|169459|169461|169464|169468|169470|169471|169472|192264|222761|243082|245114|245115|256745|256746|256747|332387|332392|332399|332401|332403|332406|332407|332409|332411|332413|332414|332418|332419|332430|342541|342541|342542|342549|342568|342570|342577|347936|347937|347944|347947|347949|347950|347954|347961|347964|347965|349249|349250|349252|349254|349257|349258|349262|349264|349266|349268|349273|349274|349276|403344|462747|532411|532480|552214|553398|610683|619849|622489|647454|647469|682853|690199|694300|778483|795486|858791|879803|879804|879805|879806|879807|879808|879809|879810|879811|879812|879813|879814|879815|879816|879817|879818|879819|879820|879821|879822|879823|880687|918863|918864|919815|919816|920393", + "upstreamId": "22318|22319|22320|22321|22324|29192|137717|137718|140833|140834|169456|169457|169459|169461|169464|169468|169470|169471|169472|192264|222761|243082|245114|245115|256745|256746|256747|332387|332392|332399|332401|332403|332406|332407|332409|332411|332413|332414|332418|332419|332430|342541|342541|342542|342549|342568|342570|342577|347936|347937|347944|347947|347949|347950|347954|347961|347964|347965|349249|349250|349252|349254|349257|349258|349262|349264|349266|349268|349273|349274|349276|403344|462747|532411|532480|552214|553398|610683|619849|622489|647454|647469|682853|690199|694300|778483|795486|858791|879803|879804|879805|879806|879807|879808|879809|879810|879811|879812|879813|879814|879815|879816|879817|879818|879819|879820|879821|879822|879823|880687|918863|918864|919815|919816|920393", "text": "Myopathy, centronuclear, 1" }, { - "baseId": "22318|22319|22320|22321|22324|169457|169458|169460|169461|169465|169466|169467|169469", + "upstreamId": "22318|22319|22320|22321|22324|169457|169458|169460|169461|169465|169466|169467|169469", "text": "Myopathy, centronuclear" }, { - "baseId": "22322|22323|22326", + "upstreamId": "22322|22323|22326", "text": "Charcot-Marie-Tooth disease, type 2M" }, { - "baseId": "22324|22325|26092|26093|26094|26095|26096|26097|26098|26099|26100|26101|98576|98584|98585|169954|169955|169956|169957|169959|169960|169961|169962|169963|169964|169966|169967|169968|169969|169970|169971|169972|169973|169974|169975|169976|169977|169978|169979|169980|169981|169982|169983|169984|169985|169986|169987|169988|169989|169990|169991|169992|169993|169994|169995|169996|169998|169999|170000|170001|170002|170003|170004|170005|170006|170007|170008|170010|170011|170012|170013|170014|170015|170016|170018|170019|170020|170021|170022|170023|170024|170025|170026|170027|170028|170029|170030|170031|170032|170033|170034|170035|170036|170037|170039|170040|170041|170042|170043|170044|170045|170046|170047|170048|170049|170050|170051|170052|170053|170054|170055|170056|170057|170058|170059|170060|170061|170062|170063|170064|170065|170066|170067|170069|170070|170071|170072|170073|170074|208896|208897|208899|208900|208901|208902|208903|208904|208905|208906|208907|208908|208909|208910|208911|208912|269331|353913|378938|430678|430679|430680|430681|470529|470530|471343|472074|472075|492309|507778|508352|534574|534575|534643|534847|535060|535062|572060|573616|573617|573626|574333|575276|575345|621917|621918|621919|621920|649746|649747|649748|649749|649750|649751|653281|653346|653728|653776|689370|694805|706131|717675|729453|743176|743178|743179|758325|758327|773833|773834|778700|786723|786726|786728|788367|792134|792135|821481|821482|821483|821484|849709|849710|849711|849712|849713|849714|849715|849716|851940|919980|920438|929591|929592|929593|929594|939462|951633|959180|959181|959182|960975|964700|972397|972398|972399|972400|972401|972402|972403|972404|980089", + "upstreamId": "22324|22325|26092|26093|26094|26095|26096|26097|26098|26099|26100|26101|98576|98584|98585|169954|169955|169956|169957|169959|169960|169961|169962|169963|169964|169966|169967|169968|169969|169970|169971|169972|169973|169974|169975|169976|169977|169978|169979|169980|169981|169982|169983|169984|169985|169986|169987|169988|169989|169990|169991|169992|169993|169994|169995|169996|169998|169999|170000|170001|170002|170003|170004|170005|170006|170007|170008|170010|170011|170012|170013|170014|170015|170016|170018|170019|170020|170021|170022|170023|170024|170025|170026|170027|170028|170029|170030|170031|170032|170033|170034|170035|170036|170037|170039|170040|170041|170042|170043|170044|170045|170046|170047|170048|170049|170050|170051|170052|170053|170054|170055|170056|170057|170058|170059|170060|170061|170062|170063|170064|170065|170066|170067|170069|170070|170071|170072|170073|170074|208896|208897|208899|208900|208901|208902|208903|208904|208905|208906|208907|208908|208909|208910|208911|208912|269331|353913|378938|430678|430679|430680|430681|470529|470530|471343|472074|472075|492309|507778|508352|534574|534575|534643|534847|535060|535062|572060|573616|573617|573626|574333|575276|575345|621917|621918|621919|621920|649746|649747|649748|649749|649750|649751|653281|653346|653728|653776|689370|694805|706131|717675|729453|743176|743178|743179|758325|758327|773833|773834|778700|786723|786726|786728|788367|792134|792135|821481|821482|821483|821484|849709|849710|849711|849712|849713|849714|849715|849716|851940|919980|920438|929591|929592|929593|929594|939462|951633|959180|959181|959182|960975|964700|972397|972398|972399|972400|972401|972402|972403|972404|980089", "text": "Severe X-linked myotubular myopathy" }, { - "baseId": "22327|31962|32992|980456", + "upstreamId": "22327|31962|32992|980456", "text": "Hepatitis b virus, susceptibility to" }, { - "baseId": "22328|22328|22329|22330|22331|22332|22335|22336|22336|22337|22338|22340|150118|150119|150119|150120|195631|254361|254363|254364|315448|315452|315457|315458|315458|315459|315460|315464|315465|315469|322293|322293|322295|322295|322314|322316|322327|322329|328430|328430|328442|328446|328450|328450|328460|328461|329760|329761|329762|329771|329771|390098|461487|461487|461489|461499|462344|526561|526565|526573|539185|564930|567569|571047|612294|640490|640491|640492|640493|640494|640494|640495|640496|640497|640498|640499|640500|640500|640501|640502|640503|652353|678052|724785|753012|768826|768827|775763|820420|839153|839154|839155|839156|839157|839158|839159|839160|839161|868924|868925|868926|868927|868927|868928|868929|868930|868931|868932|868933|868934|868935|868936|872150|872151|926413|935848|935849|935850|935851|947729", + "upstreamId": "22328|22328|22329|22330|22331|22332|22335|22336|22336|22337|22338|22340|150118|150119|150119|150120|195631|254361|254363|254364|315448|315452|315457|315458|315458|315459|315460|315464|315465|315469|322293|322293|322295|322295|322314|322316|322327|322329|328430|328430|328442|328446|328450|328450|328460|328461|329760|329761|329762|329771|329771|390098|461487|461487|461489|461499|462344|526561|526565|526573|539185|564930|567569|571047|612294|640490|640491|640492|640493|640494|640494|640495|640496|640497|640498|640499|640500|640500|640501|640502|640503|652353|678052|724785|753012|768826|768827|775763|820420|839153|839154|839155|839156|839157|839158|839159|839160|839161|868924|868925|868926|868927|868927|868928|868929|868930|868931|868932|868933|868934|868935|868936|872150|872151|926413|935848|935849|935850|935851|947729", "text": "Papillon-Lef\u00e8vre syndrome" }, { - "baseId": "22328|22336|22339|22340|150119|150120|315458|322293|322295|328430|328450|329771|390098|461487|461489|461499|462344|526561|526565|526573|539042|539185|564930|567569|571047|640490|640491|640492|640493|640494|640495|640496|640497|640498|640499|640500|640501|640502|640503|652353|724785|753012|768826|768827|775763|820420|839153|839154|839155|839156|839157|839158|839159|839160|839161|868927|926413|935848|935849|935850|935851|947729", + "upstreamId": "22328|22336|22339|22340|150119|150120|315458|322293|322295|328430|328450|329771|390098|461487|461489|461499|462344|526561|526565|526573|539042|539185|564930|567569|571047|640490|640491|640492|640493|640494|640495|640496|640497|640498|640499|640500|640501|640502|640503|652353|724785|753012|768826|768827|775763|820420|839153|839154|839155|839156|839157|839158|839159|839160|839161|868927|926413|935848|935849|935850|935851|947729", "text": "Periodontitis, aggressive, 1" }, { - "baseId": "22328|22333|22336|150119|195631|254361|254363|254364|315448|315452|315457|315458|315458|315459|315460|315464|315465|315469|322293|322293|322295|322295|322314|322316|322327|322329|328430|328430|328442|328446|328450|328450|328460|328461|329760|329761|329762|329771|329771|390098|461487|461487|461489|461499|462344|526561|526565|526573|539185|564930|567569|571047|640490|640491|640492|640493|640494|640494|640495|640496|640497|640498|640499|640500|640500|640501|640502|640503|652353|724785|753012|768826|768827|775763|820420|839153|839154|839155|839156|839157|839158|839159|839160|839161|868924|868925|868926|868927|868927|868928|868929|868930|868931|868932|868933|868934|868936|872150|872151|926413|935848|935849|935850|935851|947729", + "upstreamId": "22328|22333|22336|150119|195631|254361|254363|254364|315448|315452|315457|315458|315458|315459|315460|315464|315465|315469|322293|322293|322295|322295|322314|322316|322327|322329|328430|328430|328442|328446|328450|328450|328460|328461|329760|329761|329762|329771|329771|390098|461487|461487|461489|461499|462344|526561|526565|526573|539185|564930|567569|571047|640490|640491|640492|640493|640494|640494|640495|640496|640497|640498|640499|640500|640500|640501|640502|640503|652353|724785|753012|768826|768827|775763|820420|839153|839154|839155|839156|839157|839158|839159|839160|839161|868924|868925|868926|868927|868927|868928|868929|868930|868931|868932|868933|868934|868936|872150|872151|926413|935848|935849|935850|935851|947729", "text": "Haim-Munk syndrome" }, { - "baseId": "22341|34151|70560|70561|70563|134583|134584|141152|141153|141154|141155|141157|195295|202849|202852|202853|202854|202858|202859|202860|202861|202863|227722|227725|227728|227729|322635|322636|332157|332160|332161|332163|332168|339114|339115|339119|339120|340648|340649|340653|340654|340655|340656|374091|376452|464297|464299|464823|464832|464833|490059|504786|528901|529253|529255|529261|539059|567092|567094|568572|568859|569422|573319|573320|580005|614395|643282|643283|643284|643285|643286|643287|652567|688439|690106|820707|842414|842415|842416|842417|842418|842419|842420|842421|842422|842423|842424|842425|842426|852041|873656|873657|873658|873659|873660|873661|873662|873663|873664|873665|873666|873667|927342|936954|936955|941090|948908|948909|948910", + "upstreamId": "22341|34151|70560|70561|70563|134583|134584|141152|141153|141154|141155|141157|195295|202849|202852|202853|202854|202858|202859|202860|202861|202863|227722|227725|227728|227729|322635|322636|332157|332160|332161|332163|332168|339114|339115|339119|339120|340648|340649|340653|340654|340655|340656|374091|376452|464297|464299|464823|464832|464833|490059|504786|528901|529253|529255|529261|539059|567092|567094|568572|568859|569422|573319|573320|580005|614395|643282|643283|643284|643285|643286|643287|652567|688439|690106|820707|842414|842415|842416|842417|842418|842419|842420|842421|842422|842423|842424|842425|842426|852041|873656|873657|873658|873659|873660|873661|873662|873663|873664|873665|873666|873667|927342|936954|936955|941090|948908|948909|948910", "text": "Arginine:glycine amidinotransferase deficiency" }, { - "baseId": "22342", + "upstreamId": "22342", "text": "Narcolepsy 1" }, { - "baseId": "22343|22344|22345|22350|22351|22355|22356|168798|168799|168800|168801|168802|168803|168805|168806|168807|168808|168809|168810|168811|168812|190451|193554|195336|195337|196255|196256|265666|265732|266997|268846|268870|271564|271928|272374|273661|273667|274924|308858|308859|308866|308867|308871|308873|308874|308875|308887|308888|308892|308893|308898|313523|313540|313545|313549|313550|313553|313554|313555|313565|313566|313571|313573|319299|319314|319319|319327|319343|319346|319349|319350|319351|319353|319357|319358|319359|319924|319932|319934|319938|319939|319956|319958|491333|737233|902466|902467|902468|902469|902470|902471|902472|902473|902474|902475|902476|902477|902478|902479|902480|902481|902482|902483|902484|902485|902486|902487|902488|902489|902490|902491|902492|902493|902494|902495|902496|902497|902498|902499|902500|902501|902502|902503|903443", + "upstreamId": "22343|22344|22345|22350|22351|22355|22356|168798|168799|168800|168801|168802|168803|168805|168806|168807|168808|168809|168810|168811|168812|190451|193554|195336|195337|196255|196256|265666|265732|266997|268846|268870|271564|271928|272374|273661|273667|274924|308858|308859|308866|308867|308871|308873|308874|308875|308887|308888|308892|308893|308898|313523|313540|313545|313549|313550|313553|313554|313555|313565|313566|313571|313573|319299|319314|319319|319327|319343|319346|319349|319350|319351|319353|319357|319358|319359|319924|319932|319934|319938|319939|319956|319958|491333|737233|902466|902467|902468|902469|902470|902471|902472|902473|902474|902475|902476|902477|902478|902479|902480|902481|902482|902483|902484|902485|902486|902487|902488|902489|902490|902491|902492|902493|902494|902495|902496|902497|902498|902499|902500|902501|902502|902503|903443", "text": "Brachydactyly type B1" }, { - "baseId": 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"text": "Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals" }, { - "baseId": "22357", + "upstreamId": "22357", "text": "Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly" }, { - "baseId": "22361|22362|22363|22364|22365|22366|22367|45610|45611|439823|439824|439825|439826|610682|971576", + "upstreamId": "22361|22362|22363|22364|22365|22366|22367|45610|45611|439823|439824|439825|439826|610682|971576", "text": "Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2" }, { - "baseId": 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"text": "Idiopathic Pulmonary Fibrosis" }, { - "baseId": "22368", + "upstreamId": "22368", "text": "Obesity, late-onset" }, { - "baseId": "22368", + "upstreamId": "22368", "text": "Leanness, inherited" }, { - "baseId": 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+ "upstreamId": "22369|22370|22371|22379|304795|304803|304805|304809|304810|304812|304815|304816|304822|304825|304829|304834|304835|304836|304837|304842|304850|304851|304853|304854|304856|304862|308527|308530|308544|308548|308554|308555|308556|308557|308559|308564|308565|308568|308572|308573|308575|308585|308586|308587|313692|313694|313695|313696|313697|313698|313710|313711|313713|313714|313715|313716|313718|313719|313724|313726|313731|313732|313733|313734|313735|313737|313739|313740|313741|313743|313744|313745|313746|313747|313750|313751|313754|313759|313778|313780|313781|313783|313784|313792|313796|313797|313798|313836|313837|313850|313860|612353|700520|700521|736582|899264|899265|899266|899267|899268|899269|899270|899271|899272|899273|899274|899275|899276|899277|899278|899279|899280|899281|899282|899283|899284|899285|899286|899287|899288|899289|899290|899291|899292|899293|899294|899295|899296|899297|899298|899299|899300|899301|899302|899303|899304|899305|899306|899307|899308|899309|899310|899311|899312|899313|899314|899315|899316|899317|899318|899319|899320|899321|899322|899323|899324|899325|899326|899327|899328|899329|900465|900466|900467|900468", "text": "Alopecia universalis congenita" }, { - "baseId": 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+ "upstreamId": 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"text": "Atrichia with papular lesions" }, { - "baseId": "22380|22381|22382|22383|818633", + "upstreamId": "22380|22381|22382|22383|818633", "text": "Hypotrichosis 4" }, { - "baseId": "22384|22385|22386|22387|142565|142566|244408|269524|288615|288616|288620|288624|288628|288634|288637|288644|288645|288656|288658|288662|289365|289370|289371|289372|289373|289375|289386|289388|289391|292394|292396|292397|292403|292511|292525|292532|292548|292549|292550|367198|452185|452187|452188|518897|518922|518926|558820|650966|691299|787237|819321|827518|827519|827520|827521|851532|887874|887875|887876|887877|887878|887879|887880|887881|887882|887883|887884|887885|887886|887887|887888|887889|887890|887891|887892|887893|891559|931756|931757|943318", + "upstreamId": "22384|22385|22386|22387|142565|142566|244408|269524|288615|288616|288620|288624|288628|288634|288637|288644|288645|288656|288658|288662|289365|289370|289371|289372|289373|289375|289386|289388|289391|292394|292396|292397|292403|292511|292525|292532|292548|292549|292550|367198|452185|452187|452188|518897|518922|518926|558820|650966|691299|787237|819321|827518|827519|827520|827521|851532|887874|887875|887876|887877|887878|887879|887880|887881|887882|887883|887884|887885|887886|887887|887888|887889|887890|887891|887892|887893|891559|931756|931757|943318", "text": "Charcot-Marie-Tooth disease type 2B" }, { - "baseId": "22388|39220|133852|133853|181423|206566|207426|207428|207430|207434|207436|215351|264224|363707|369109|369110|369361|395251|428635|428641|444025|444026|456170|456174|456179|456182|456491|456862|513289|513571|522659|522660|552110|552111|561109|561163|561165|566164|635330|635331|635332|635333|683822|683823|683825|683826|683827|686920|686924|686925|722187|787488|792762|832621|832622|832623|924526|933545|954941|961608|970220", + "upstreamId": "22388|39220|133852|133853|181423|206566|207426|207428|207430|207434|207436|215351|264224|363707|369109|369110|369361|395251|428635|428641|444025|444026|456170|456174|456179|456182|456491|456862|513289|513571|522659|522660|552110|552111|561109|561163|561165|566164|635330|635331|635332|635333|683822|683823|683825|683826|683827|686920|686924|686925|722187|787488|792762|832621|832622|832623|924526|933545|954941|961608|970220", "text": "Spastic paraplegia 50, autosomal recessive" }, { - "baseId": "22389|22391|22392|101394|101395|101396|106460|192441|192442|253281|267710|272609|273091|273579|306568|306569|306571|306588|306590|306595|310775|310776|310777|310785|310786|310787|310798|310799|316171|316186|316187|316188|316191|316195|316510|316511|316514|316521|316523|316524|316525|370178|444336|444336|524469|622890|790832|802167|835419|900918|900919|900920|900921|900922|900923|900924|900925|900926|900927|900928|900929|900930|900931|900932|900933|900934|900935|900936|900937|900938|900939|900940|900941|900942", + "upstreamId": "22389|22391|22392|101394|101395|101396|106460|192441|192442|253281|267710|272609|273091|273579|306568|306569|306571|306588|306590|306595|310775|310776|310777|310785|310786|310787|310798|310799|316171|316186|316187|316188|316191|316195|316510|316511|316514|316521|316523|316524|316525|370178|444336|444336|524469|622890|790832|802167|835419|900918|900919|900920|900921|900922|900923|900924|900925|900926|900927|900928|900929|900930|900931|900932|900933|900934|900935|900936|900937|900938|900939|900940|900941|900942", "text": "Sarcotubular myopathy" }, { - "baseId": "22389|22390|22391|101394|101395|101396|106460|192441|192442|253281|267710|272609|273579|306568|306569|306571|306588|306590|306595|310775|310776|310777|310785|310786|310787|310798|310799|316171|316186|316187|316188|316191|316195|316510|316511|316514|316521|316523|316524|316525|370178|444336|444336|524469|835419|900918|900919|900920|900921|900922|900923|900924|900925|900926|900927|900928|900929|900930|900931|900932|900933|900934|900935|900936|900937|900938|900939|900940|900941|900942", + "upstreamId": "22389|22390|22391|101394|101395|101396|106460|192441|192442|253281|267710|272609|273579|306568|306569|306571|306588|306590|306595|310775|310776|310777|310785|310786|310787|310798|310799|316171|316186|316187|316188|316191|316195|316510|316511|316514|316521|316523|316524|316525|370178|444336|444336|524469|835419|900918|900919|900920|900921|900922|900923|900924|900925|900926|900927|900928|900929|900930|900931|900932|900933|900934|900935|900936|900937|900938|900939|900940|900941|900942", "text": "Bardet-Biedl syndrome 11" }, { - "baseId": "22393|22394|22395|312859|312860|312862|312863|312876|312878|312879|312881|312882|312883|312887|312888|312896|312898|312902|312903|312907|312912|312913|312922|312926|312927|312937|318900|318902|318904|318905|318907|318908|318917|318919|318922|318933|318935|318947|318948|318954|318958|318959|318962|325013|325034|325035|325037|325040|325041|325042|325046|325071|325074|325076|325079|325080|325081|325083|325086|325087|325089|325090|325882|325886|325887|325890|325894|325895|325897|325906|325909|325910|325929|325936|325943|325948|325949|325950|325953|325960|626203|665819|737820|799637|867380|867381|867382|867383|867384|867385|867386|867387|867388|867389|867390|867391|867392|867393|867394|867395|867396|867397|867398|867399|867400|867401|867402|867403|867404|867405|867406|867407|867408|867409|867410|867411|867412|867413|867414|867415|867416|867417|867418|867419|867420|867421|867422|867423|867424|867425|867426|867427|868612|904265|904266", + "upstreamId": "22393|22394|22395|312859|312860|312862|312863|312876|312878|312879|312881|312882|312883|312887|312888|312896|312898|312902|312903|312907|312912|312913|312922|312926|312927|312937|318900|318902|318904|318905|318907|318908|318917|318919|318922|318933|318935|318947|318948|318954|318958|318959|318962|325013|325034|325035|325037|325040|325041|325042|325046|325071|325074|325076|325079|325080|325081|325083|325086|325087|325089|325090|325882|325886|325887|325890|325894|325895|325897|325906|325909|325910|325929|325936|325943|325948|325949|325950|325953|325960|626203|665819|737820|799637|867380|867381|867382|867383|867384|867385|867386|867387|867388|867389|867390|867391|867392|867393|867394|867395|867396|867397|867398|867399|867400|867401|867402|867403|867404|867405|867406|867407|867408|867409|867410|867411|867412|867413|867414|867415|867416|867417|867418|867419|867420|867421|867422|867423|867424|867425|867426|867427|868612|904265|904266", "text": "Lathosterolosis" }, { - "baseId": "22396|22397|22398|22399|22400|22401|22402|22403|22404|105554|816462|920518", + "upstreamId": "22396|22397|22398|22399|22400|22401|22402|22403|22404|105554|816462|920518", "text": "Retinitis pigmentosa 14" }, { - "baseId": "22399|39216|39217|39218|39219|100027|100028|105550|105553|105554|105560|105564|193520|271102|271577|299937|299938|299942|302589|302593|302609|302611|302612|302613|302615|306990|306991|307242|307249|307250|307256|699561|710472|777634|816462|818245|831882|831890|856426|856434|895866|895867|895868|895869|895870|895871|895872|895873|895874|895875|895876|895877|896235|896236|919026|919027|919028|920229|966095|966096|966097|966098|966099|966100", + "upstreamId": "22399|39216|39217|39218|39219|100027|100028|105550|105553|105554|105560|105564|193520|271102|271577|299937|299938|299942|302589|302593|302609|302611|302612|302613|302615|306990|306991|307242|307249|307250|307256|699561|710472|777634|816462|818245|831882|831890|856426|856434|895866|895867|895868|895869|895870|895871|895872|895873|895874|895875|895876|895877|896235|896236|919026|919027|919028|920229|966095|966096|966097|966098|966099|966100", "text": "Leber congenital amaurosis 15" }, { - "baseId": "22406|22407|101056|495560|791393|966544", + "upstreamId": "22406|22407|101056|495560|791393|966544", "text": "Oculopharyngeal muscular dystrophy" }, { - "baseId": "22408|106448", + "upstreamId": "22408|106448", "text": "Retinitis pigmentosa 48" }, { - "baseId": "22409|22410|22411|22411|22412|22413|22414|99446|99447|99448|99449|99450|143105|143106|143107|143108|143109|143110|143112|143114|143115|143116|143118|169438|169439|169440|169441|169442|169443|169444|169445|169446|169447|169449|169451|169452|169453|177163|177295|177427|178096|178394|200996|203502|203505|203508|203518|205021|205790|208455|208456|208457|208458|208460|209339|213650|225863|237502|237503|266254|331713|331715|331717|331719|331720|331724|331725|331731|331737|331742|331747|331754|331759|331760|331761|331763|331766|341962|341963|341965|341971|341975|341976|341979|341983|341989|341993|341995|341998|342000|342002|342004|342009|342011|342016|342018|342020|342022|342024|342031|342036|342039|342041|342043|342047|342049|342054|342056|347351|347352|347355|347356|347359|347366|347367|347368|347375|347377|347382|347393|347397|347400|347401|347404|347410|347412|347413|347417|347424|347425|347428|348685|348686|348689|348690|348691|348692|348693|348697|348698|348699|348711|348714|348720|348728|348729|348734|348735|348739|348744|348747|348753|348754|348761|348764|361036|361037|362183|362449|377104|377112|379073|422225|424667|425225|426274|430066|430067|430070|430073|445989|468073|468078|468082|468083|468996|468997|469003|469004|469006|469009|469412|469413|469578|469825|469826|469828|469831|469840|482178|506356|506369|506983|506992|532342|532346|532777|532783|536070|538249|538250|538251|539083|551328|551794|552210|552211|552212|553397|570240|570243|571970|571976|571980|571982|572665|572666|572668|572671|574764|574765|574766|574767|574768|580316|580319|580542|611428|614614|647325|647326|647327|647328|647329|647330|647331|647332|647333|647334|652892|653096|653375|653895|653987|678075|683147|688917|688918|695794|704625|741408|772214|791868|791869|791870|791871|791872|798737|816346|816367|821192|821193|822142|822143|822144|822278|846929|846930|846931|846932|846933|846934|846935|846936|846937|846938|846939|846940|846941|851775|851777|852279|852936|879416|879417|879418|879419|879420|879421|879422|879423|879424|879425|879426|879427|879428|879429|879430|879431|879432|879433|879434|879435|879436|879437|879438|879439|879440|879441|879442|879443|879444|879445|879446|879447|879448|879449|879450|879451|879452|879453|879454|879455|879456|879457|879458|879459|879460|879461|879462|879463|879464|879465|879466|879467|879468|879469|879470|906145|919801|919802|920392|928734|928735|938465|938466|938467|938468|938469|950553|950554|950555|950556|950557|950558|950559|950560|950561|960271|964055|964733|966168|971104|971105", + "upstreamId": "22409|22410|22411|22411|22412|22413|22414|99446|99447|99448|99449|99450|143105|143106|143107|143108|143109|143110|143112|143114|143115|143116|143118|169438|169439|169440|169441|169442|169443|169444|169445|169446|169447|169449|169451|169452|169453|177163|177295|177427|178096|178394|200996|203502|203505|203508|203518|205021|205790|208455|208456|208457|208458|208460|209339|213650|225863|237502|237503|266254|331713|331715|331717|331719|331720|331724|331725|331731|331737|331742|331747|331754|331759|331760|331761|331763|331766|341962|341963|341965|341971|341975|341976|341979|341983|341989|341993|341995|341998|342000|342002|342004|342009|342011|342016|342018|342020|342022|342024|342031|342036|342039|342041|342043|342047|342049|342054|342056|347351|347352|347355|347356|347359|347366|347367|347368|347375|347377|347382|347393|347397|347400|347401|347404|347410|347412|347413|347417|347424|347425|347428|348685|348686|348689|348690|348691|348692|348693|348697|348698|348699|348711|348714|348720|348728|348729|348734|348735|348739|348744|348747|348753|348754|348761|348764|361036|361037|362183|362449|377104|377112|379073|422225|424667|425225|426274|430066|430067|430070|430073|445989|468073|468078|468082|468083|468996|468997|469003|469004|469006|469009|469412|469413|469578|469825|469826|469828|469831|469840|482178|506356|506369|506983|506992|532342|532346|532777|532783|536070|538249|538250|538251|539083|551328|551794|552210|552211|552212|553397|570240|570243|571970|571976|571980|571982|572665|572666|572668|572671|574764|574765|574766|574767|574768|580316|580319|580542|611428|614614|647325|647326|647327|647328|647329|647330|647331|647332|647333|647334|652892|653096|653375|653895|653987|678075|683147|688917|688918|695794|704625|741408|772214|791868|791869|791870|791871|791872|798737|816346|816367|821192|821193|822142|822143|822144|822278|846929|846930|846931|846932|846933|846934|846935|846936|846937|846938|846939|846940|846941|851775|851777|852279|852936|879416|879417|879418|879419|879420|879421|879422|879423|879424|879425|879426|879427|879428|879429|879430|879431|879432|879433|879434|879435|879436|879437|879438|879439|879440|879441|879442|879443|879444|879445|879446|879447|879448|879449|879450|879451|879452|879453|879454|879455|879456|879457|879458|879459|879460|879461|879462|879463|879464|879465|879466|879467|879468|879469|879470|906145|919801|919802|920392|928734|928735|938465|938466|938467|938468|938469|950553|950554|950555|950556|950557|950558|950559|950560|950561|960271|964055|964733|966168|971104|971105", "text": "Pitt-Hopkins syndrome" }, { - "baseId": "22409|202822|264918|354023|361128|361131|361133|361138|361143|361144|361151|361154", + "upstreamId": "22409|202822|264918|354023|361128|361131|361133|361138|361143|361144|361151|361154", "text": "Severe intellectual deficiency" }, { - "baseId": "22411|200754|539083|551329|553397|611428|816346", + "upstreamId": "22411|200754|539083|551329|553397|611428|816346", "text": "Corneal dystrophy, Fuchs endothelial, 3" }, { - "baseId": "22415|22416|22417|22418|39213|39214|39215|193573|201786|201793|201794|201795|263762|263763|263764|263765|263766|263767|263768|263769|263770|263771|263772|263773|406463|443637|446885|798547|980915", + "upstreamId": "22415|22416|22417|22418|39213|39214|39215|193573|201786|201793|201794|201795|263762|263763|263764|263765|263766|263767|263768|263769|263770|263771|263772|263773|406463|443637|446885|798547|980915", "text": "Epilepsy, progressive myoclonic 4, with or without renal failure" }, { - "baseId": "22419", + "upstreamId": "22419", "text": "Nephropathy with pretibial epidermolysis bullosa and deafness" }, { - "baseId": "22420|22421|22423|22424|22425|22426|22427|22429|22430|34607|34608|34609|34610|34611|34612|34613|34614|34615|34616|34618|34619|34620|34621|34622|34623|34624|34625|34626|34627|34628|34630|34631|34632|34633|34634|34635|34636|34638|34639|34639|34640|34641|34643|34644|34645|34646|34647|34648|34649|34650|34651|34652|34653|34654|34655|34656|34657|34660|34662|34663|34664|34666|34667|34668|47702|48359|48361|51284|125784|134783|134788|134789|191609|191609|203703|203724|203728|203729|203736|203783|203792|203794|203801|203802|208704|217258|217261|217263|227922|264761|266263|267975|353967|353968|353969|353970|353972|353973|353975|353980|353982|353985|353987|353989|353990|353991|353992|353993|353995|353997|353998|353999|354003|354018|354019|354024|354027|354028|354030|354032|354033|354034|354035|354036|354037|354038|354040|354043|361690|361908|410821|415696|424618|426351|446292|470987|481405|511018|533610|551748|614476|679939|791995|791996|791997|791998|791999|792000|792001|802031|802032|802034|802035|802037|806441|917741|964536|964537|964543|965428|965444|966804|983655", + "upstreamId": "22420|22421|22423|22424|22425|22426|22427|22429|22430|34607|34608|34609|34610|34611|34612|34613|34614|34615|34616|34618|34619|34620|34621|34622|34623|34624|34625|34626|34627|34628|34630|34631|34632|34633|34634|34635|34636|34638|34639|34639|34640|34641|34643|34644|34645|34646|34647|34648|34649|34650|34651|34652|34653|34654|34655|34656|34657|34660|34662|34663|34664|34666|34667|34668|47702|48359|48361|51284|125784|134783|134788|134789|191609|191609|203703|203724|203728|203729|203736|203783|203792|203794|203801|203802|208704|217258|217261|217263|227922|264761|266263|267975|353967|353968|353969|353970|353972|353973|353975|353980|353982|353985|353987|353989|353990|353991|353992|353993|353995|353997|353998|353999|354003|354018|354019|354024|354027|354028|354030|354032|354033|354034|354035|354036|354037|354038|354040|354043|361690|361908|410821|415696|424618|426351|446292|470987|481405|511018|533610|551748|614476|679939|791995|791996|791997|791998|791999|792000|792001|802031|802032|802034|802035|802037|806441|917741|964536|964537|964543|965428|965444|966804|983655", "text": "Benign familial neonatal seizures 1" }, { - "baseId": "22425|22430", + "upstreamId": "22425|22430", "text": "Seizures, benign familial neonatal, 1, and/or myokymia" }, { - "baseId": "22427|22428|22431|34261|34262|34263|34264|34265|34266|34267|34269|34659|134793|134794|134795|134796|141743|141752|141753|141754|141755|191041|191676|202143|202149|202151|202156|202158|202160|202165|202168|202170|202171|202173|202174|202181|207503|240232|304135|304149|304150|304163|304164|304178|304180|304181|304182|304186|304187|304188|304189|304194|304200|304205|304206|304211|304217|304218|304222|304226|304229|304230|304235|304242|304243|304244|304260|304261|304263|304264|304265|307750|307761|307788|307793|307795|307810|307824|307837|307838|307839|307852|307853|307854|307861|307862|307863|307864|307867|307871|307883|307884|307886|307887|307891|307898|307919|312763|312782|312806|312807|312809|312817|312819|312820|312821|312827|312837|312838|312850|312856|312870|312880|312889|312890|312891|312894|312895|312906|312908|312909|312910|312911|312914|312915|312918|312919|312920|312921|312923|312925|312928|312929|312935|312939|312940|312942|312944|312945|312946|312947|312948|312949|312952|312957|312958|312960|312974|312975|312978|312979|312980|312981|312984|312990|312998|313007|313009|313012|313013|313026|313027|313028|313040|359883|371534|407314|421658|444213|486747|564635|564638|614317|636596|636600|692350|722848|898823|898824|898825|898826|898827|898828|898829|898830|898831|898832|898833|898834|898835|898836|898837|898838|898839|898840|898841|898842|898843|898844|898845|898846|898847|898848|898849|898850|898851|898852|898853|898854|898855|898856|898857|898858|898859|898860|898861|898862|898863|898864|898865|898866|898867|898868|898869|898870|898871|898872|898873|898874|898875|898876|898877|898878|898879|898880|898881|898882|898883|898884|898885|898886|898887|898888|898889|898890|898891|898892|898893|898894|898895|898896|898897|898898|898899|898900|900439|900440|900441|919140|964298", + "upstreamId": "22427|22428|22431|34261|34262|34263|34264|34265|34266|34267|34269|34659|134793|134794|134795|134796|141743|141752|141753|141754|141755|191041|191676|202143|202149|202151|202156|202158|202160|202165|202168|202170|202171|202173|202174|202181|207503|240232|304135|304149|304150|304163|304164|304178|304180|304181|304182|304186|304187|304188|304189|304194|304200|304205|304206|304211|304217|304218|304222|304226|304229|304230|304235|304242|304243|304244|304260|304261|304263|304264|304265|307750|307761|307788|307793|307795|307810|307824|307837|307838|307839|307852|307853|307854|307861|307862|307863|307864|307867|307871|307883|307884|307886|307887|307891|307898|307919|312763|312782|312806|312807|312809|312817|312819|312820|312821|312827|312837|312838|312850|312856|312870|312880|312889|312890|312891|312894|312895|312906|312908|312909|312910|312911|312914|312915|312918|312919|312920|312921|312923|312925|312928|312929|312935|312939|312940|312942|312944|312945|312946|312947|312948|312949|312952|312957|312958|312960|312974|312975|312978|312979|312980|312981|312984|312990|312998|313007|313009|313012|313013|313026|313027|313028|313040|359883|371534|407314|421658|444213|486747|564635|564638|614317|636596|636600|692350|722848|898823|898824|898825|898826|898827|898828|898829|898830|898831|898832|898833|898834|898835|898836|898837|898838|898839|898840|898841|898842|898843|898844|898845|898846|898847|898848|898849|898850|898851|898852|898853|898854|898855|898856|898857|898858|898859|898860|898861|898862|898863|898864|898865|898866|898867|898868|898869|898870|898871|898872|898873|898874|898875|898876|898877|898878|898879|898880|898881|898882|898883|898884|898885|898886|898887|898888|898889|898890|898891|898892|898893|898894|898895|898896|898897|898898|898899|898900|900439|900440|900441|919140|964298", "text": "Benign familial neonatal seizures 2" }, { - "baseId": "22427|22428|22429|22430|22430|34611|34639|34644|34647|34661|48359|48359|48360|48361|125784|125784|134777|134789|141729|177432|191609|195052|195445|198642|203703|203721|203722|203723|203724|203724|203725|203726|203727|203728|203736|203759|203764|203771|203772|203788|203792|203794|203795|203798|208704|208705|213659|217256|217257|217258|217258|217259|217260|217262|260235|264902|265110|267975|271459|350374|353971|353976|353977|353978|353981|353983|353984|353986|353988|353994|353996|354000|354001|354002|354004|354005|354006|354007|354008|354009|354010|354011|354012|354013|354014|354015|354016|354017|354020|354021|354022|354023|354025|354026|354029|354031|361066|361235|361236|404202|422344|424618|424618|426351|426752|431924|446292|470987|481406|486771|486772|486773|486774|511019|533610|553187|571338|572967|608865|614476|624870|679811|788941|791995|798003|800409|802033|802036|802038|806441|858357|858380|919924|919925|919926|929248|964538|964539|964540|964541|964542|964695|964696|965428|966804|970531|971152", + "upstreamId": "22427|22428|22429|22430|22430|34611|34639|34644|34647|34661|48359|48359|48360|48361|125784|125784|134777|134789|141729|177432|191609|195052|195445|198642|203703|203721|203722|203723|203724|203724|203725|203726|203727|203728|203736|203759|203764|203771|203772|203788|203792|203794|203795|203798|208704|208705|213659|217256|217257|217258|217258|217259|217260|217262|260235|264902|265110|267975|271459|350374|353971|353976|353977|353978|353981|353983|353984|353986|353988|353994|353996|354000|354001|354002|354004|354005|354006|354007|354008|354009|354010|354011|354012|354013|354014|354015|354016|354017|354020|354021|354022|354023|354025|354026|354029|354031|361066|361235|361236|404202|422344|424618|424618|426351|426752|431924|446292|470987|481406|486771|486772|486773|486774|511019|533610|553187|571338|572967|608865|614476|624870|679811|788941|791995|798003|800409|802033|802036|802038|806441|858357|858380|919924|919925|919926|929248|964538|964539|964540|964541|964542|964695|964696|965428|966804|970531|971152", "text": "Early infantile epileptic encephalopathy 7" }, { - "baseId": "22432|22433|22434|22435|22440|22441|22443|22447|137040|231232|411012|495884|508964|535274|538261|538262|538263|538264|538265|538266|538267|538268|538269|538269|538270|538271|538272|538273|792588|805120|860727|919953|971160", + "upstreamId": "22432|22433|22434|22435|22440|22441|22443|22447|137040|231232|411012|495884|508964|535274|538261|538262|538263|538264|538265|538266|538267|538268|538269|538269|538270|538271|538272|538273|792588|805120|860727|919953|971160", "text": "Waardenburg syndrome type 4C" }, { - "baseId": "22436|22444|22445|22446|39210|39211|76394", + "upstreamId": "22436|22444|22445|22446|39210|39211|76394", "text": "Waardenburg syndrome type 2E, without neurologic involvement" }, { - "baseId": "22437|22438|22439|22442|22450|22451|137039|231226|231227|231228|231231|231235|347741|347742|347749|351585|351588|351589|351593|351594|351597|351600|351602|352543|352544|352545|352546|352547|352548|446415|508172|538269|694737|742898|805120|861057|891282|891283|891284|891285|891286|891287|891288|891289|891290|891291|891292|891293|891294|891295|903682|903690|964553|974884", + "upstreamId": "22437|22438|22439|22442|22450|22451|137039|231226|231227|231228|231231|231235|347741|347742|347749|351585|351588|351589|351593|351594|351597|351600|351602|352543|352544|352545|352546|352547|352548|446415|508172|538269|694737|742898|805120|861057|891282|891283|891284|891285|891286|891287|891288|891289|891290|891291|891292|891293|891294|891295|903682|903690|964553|974884", "text": "Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease" }, { - "baseId": "22441|22448|22449", + "upstreamId": "22441|22448|22449", "text": "Waardenburg syndrome type 2E, with neurologic involvement" }, { - "baseId": "22452|23717", + "upstreamId": "22452|23717", "text": "sulfonamides, urea derivatives response - Efficacy" }, { - "baseId": "22455|22456|22457|22460|22460|22461|22464|105481|105486|105486|105489|105493|105493|105494|105494|105496|105497|105497|105502|105506|105506|105507|105510|105513|188197|215730|238089|270141|271292|333928|333931|333934|333935|333938|333939|333943|333946|333950|333952|333970|333971|333974|333976|333986|333988|333989|333990|333994|333995|333998|334000|343880|343880|343881|343881|343884|343893|343895|343896|343898|343903|343904|343907|343908|343912|343917|343918|343925|343926|343928|343929|343931|343933|349187|349190|349193|349195|349199|349202|349205|349207|349208|349210|349211|349212|349215|349218|349221|349222|349224|349225|349226|350102|350103|350106|350108|350110|350114|350116|350118|350119|350123|350124|350126|350127|350130|350133|350138|350143|350146|350147|350150|350155|350160|350165|350166|350168|359518|410641|413526|626259|705132|742013|776742|791942|818340|821268|821269|821270|821271|821272|847784|847785|847786|847787|847788|847789|852339|860591|882225|882226|882227|882228|882229|882230|882231|882232|882232|882233|882234|882235|882236|882237|882238|882239|882240|882241|882242|882243|882244|882245|882246|882247|882248|882249|882250|882251|882252|882253|882254|882255|882256|882257|882258|882259|929002|929003|929004|938740|938741|938742|938743|938744|938745|950831|950832|950833|958671|958672|960295|960923|965936", + "upstreamId": "22455|22456|22457|22460|22460|22461|22464|105481|105486|105486|105489|105493|105493|105494|105494|105496|105497|105497|105502|105506|105506|105507|105510|105513|188197|215730|238089|270141|271292|333928|333931|333934|333935|333938|333939|333943|333946|333950|333952|333970|333971|333974|333976|333986|333988|333989|333990|333994|333995|333998|334000|343880|343880|343881|343881|343884|343893|343895|343896|343898|343903|343904|343907|343908|343912|343917|343918|343925|343926|343928|343929|343931|343933|349187|349190|349193|349195|349199|349202|349205|349207|349208|349210|349211|349212|349215|349218|349221|349222|349224|349225|349226|350102|350103|350106|350108|350110|350114|350116|350118|350119|350123|350124|350126|350127|350130|350133|350138|350143|350146|350147|350150|350155|350160|350165|350166|350168|359518|410641|413526|626259|705132|742013|776742|791942|818340|821268|821269|821270|821271|821272|847784|847785|847786|847787|847788|847789|852339|860591|882225|882226|882227|882228|882229|882230|882231|882232|882232|882233|882234|882235|882236|882237|882238|882239|882240|882241|882242|882243|882244|882245|882246|882247|882248|882249|882250|882251|882252|882253|882254|882255|882256|882257|882258|882259|929002|929003|929004|938740|938741|938742|938743|938744|938745|950831|950832|950833|958671|958672|960295|960923|965936", "text": "Cone-rod dystrophy 2" }, { - "baseId": "22458|22459|22460|22461|22461|76522|105481|105486|105486|105489|105493|105493|105494|105494|105496|105497|105497|105500|105502|105506|105506|105510|105513|189101|213655|215730|238089|270141|271292|333928|333931|333934|333935|333938|333939|333943|333946|333950|333952|333970|333971|333974|333976|333986|333988|333989|333990|333994|333995|333998|334000|343880|343880|343881|343881|343884|343893|343895|343896|343898|343903|343904|343907|343908|343912|343917|343918|343925|343926|343928|343929|343931|343933|349187|349190|349193|349195|349199|349202|349205|349207|349208|349210|349211|349212|349215|349218|349221|349222|349224|349225|349226|350102|350103|350106|350108|350110|350114|350116|350118|350119|350123|350124|350126|350127|350130|350133|350138|350143|350146|350147|350150|350155|350160|350165|350166|350168|410641|413526|590333|705132|742013|776742|791942|821268|821269|821270|821271|821272|847784|847785|847786|847787|847788|847789|852339|860591|882225|882226|882227|882228|882229|882230|882231|882232|882232|882233|882234|882235|882236|882237|882238|882239|882240|882241|882242|882243|882244|882245|882246|882247|882248|882249|882250|882251|882252|882253|882254|882255|882256|882257|882258|882259|904208|929002|929003|929004|938740|938741|938742|938743|938744|938745|950831|950832|950833|958671|958672|960295|960923|962229|962230|962231|962232|962233|962234|962235|962236|962237|962238", + "upstreamId": "22458|22459|22460|22461|22461|76522|105481|105486|105486|105489|105493|105493|105494|105494|105496|105497|105497|105500|105502|105506|105506|105510|105513|189101|213655|215730|238089|270141|271292|333928|333931|333934|333935|333938|333939|333943|333946|333950|333952|333970|333971|333974|333976|333986|333988|333989|333990|333994|333995|333998|334000|343880|343880|343881|343881|343884|343893|343895|343896|343898|343903|343904|343907|343908|343912|343917|343918|343925|343926|343928|343929|343931|343933|349187|349190|349193|349195|349199|349202|349205|349207|349208|349210|349211|349212|349215|349218|349221|349222|349224|349225|349226|350102|350103|350106|350108|350110|350114|350116|350118|350119|350123|350124|350126|350127|350130|350133|350138|350143|350146|350147|350150|350155|350160|350165|350166|350168|410641|413526|590333|705132|742013|776742|791942|821268|821269|821270|821271|821272|847784|847785|847786|847787|847788|847789|852339|860591|882225|882226|882227|882228|882229|882230|882231|882232|882232|882233|882234|882235|882236|882237|882238|882239|882240|882241|882242|882243|882244|882245|882246|882247|882248|882249|882250|882251|882252|882253|882254|882255|882256|882257|882258|882259|904208|929002|929003|929004|938740|938741|938742|938743|938744|938745|950831|950832|950833|958671|958672|960295|960923|962229|962230|962231|962232|962233|962234|962235|962236|962237|962238", "text": "Leber congenital amaurosis 7" }, { - "baseId": "22465|22466|22467|22468|22469|22470|22472|22473|22474|22475|22476|192348|204430|215517|216957|226088|226089|255786|255790|255796|255798|272359|325616|335246|335255|335258|335283|341726|341737|341772|343237|414718|513634|681810|703733|798700|818326|818327|818328|818329|919661|961625|962178|970546|971544", + "upstreamId": "22465|22466|22467|22468|22469|22470|22472|22473|22474|22475|22476|192348|204430|215517|216957|226088|226089|255786|255790|255796|255798|272359|325616|335246|335255|335258|335283|341726|341737|341772|343237|414718|513634|681810|703733|798700|818326|818327|818328|818329|919661|961625|962178|970546|971544", "text": "Townes-Brocks syndrome 1" }, { - "baseId": "22467|22473|192351|215517|215518|216957|237343|255791|255792|255793|255795|255796|255798|255800|255801|255802|266326|271828|272359|325638|335268|335283|343247|409645|415497|465770|466492|466495|529570|530025|530030|530032|530183|530347|574086|644745|644746|644747|693890|693892|843963|843964|927848|937484|937485", + "upstreamId": "22467|22473|192351|215517|215518|216957|237343|255791|255792|255793|255795|255796|255798|255800|255801|255802|266326|271828|272359|325638|335268|335283|343247|409645|415497|465770|466492|466495|529570|530025|530030|530032|530183|530347|574086|644745|644746|644747|693890|693892|843963|843964|927848|937484|937485", "text": "Townes syndrome" }, { - "baseId": "22471|22473", + "upstreamId": "22471|22473", "text": "Townes-Brocks-branchiootorenal-like syndrome" }, { - "baseId": 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"text": "Peutz-Jeghers syndrome" }, { - "baseId": "22487|39318|150842|151068|151912|181065|181068|222800|239444|239474|239498|394098|394101|394222|394336|394339|403225|453508|453809|453899|563999", + "upstreamId": "22487|39318|150842|151068|151912|181065|181068|222800|239444|239474|239498|394098|394101|394222|394336|394339|403225|453508|453809|453899|563999", "text": "Malignant tumor of testis" }, { - "baseId": "22489|22494|22495|22496", + "upstreamId": "22489|22494|22495|22496", "text": "Cutaneous malignant melanoma 1" }, { - "baseId": "22489|22875|22876|22877|24448|24451|27639|28695|28895|28899|28902|28904|28905|28938|28939|28940|29000|29005|29007|29008|29009|29011|29013|29346|31968|32617|32621|32625|32627|32628|38747|48247|48837|48858|48859|48938|48939|48940|48941|49070|49214|49216|49251|53979|53980|53982|53983|83949|85317|85318|87578|88528|97376|172332|174042|174177|174179|179094|198628|216786|224866|263939|359197|359643|362750|362751|362752|362753|362754|362755|362756|362773|362774|362783|362784|362785|362786|362787|362788|362789|362790|362791|362792|362793|362794|362795|362796|362797|362798|362800|362801|362802|362803|362806|362807|362809|362810|362811|362812|362818|362819|362820|362821|362822|362823|362824|362825|362826|362827|362834|362835|362836|362856|362857|362858|362859|362860|362861|362862|362863|362880|362881|362906|362907|362933|362936|362948|362949|362950|362951|362952|362953|363047|363048|363049|363050|363051|363052|363053|363054|363055|363056|363057|363058|363059|363060|363061|363062|363063|363064|363065|363099|363102|363103|363104|363105|363106|363108|363119|363135|363162|363163|363164|363165|363166|363167|363168|363169|363174|363236|363237|363241|407660|514029", + "upstreamId": "22489|22875|22876|22877|24448|24451|27639|28695|28895|28899|28902|28904|28905|28938|28939|28940|29000|29005|29007|29008|29009|29011|29013|29346|31968|32617|32621|32625|32627|32628|38747|48247|48837|48858|48859|48938|48939|48940|48941|49070|49214|49216|49251|53979|53980|53982|53983|83949|85317|85318|87578|88528|97376|172332|174042|174177|174179|179094|198628|216786|224866|263939|359197|359643|362750|362751|362752|362753|362754|362755|362756|362773|362774|362783|362784|362785|362786|362787|362788|362789|362790|362791|362792|362793|362794|362795|362796|362797|362798|362800|362801|362802|362803|362806|362807|362809|362810|362811|362812|362818|362819|362820|362821|362822|362823|362824|362825|362826|362827|362834|362835|362836|362856|362857|362858|362859|362860|362861|362862|362863|362880|362881|362906|362907|362933|362936|362948|362949|362950|362951|362952|362953|363047|363048|363049|363050|363051|363052|363053|363054|363055|363056|363057|363058|363059|363060|363061|363062|363063|363064|363065|363099|363102|363103|363104|363105|363106|363108|363119|363135|363162|363163|363164|363165|363166|363167|363168|363169|363174|363236|363237|363241|407660|514029", "text": "Melanoma" }, { - "baseId": "22501|22502|22503|22504|22505|22506|22507|22509|39207|39208|39209|49907|134762|134763|134764|141684|141685|192326|192326|201048|201049|201049|201051|201052|201053|201054|201055|201055|201057|201057|201058|201060|201061|201062|206727|238152|238153|266314|271776|276764|276765|276766|276771|276772|276775|276777|276778|276779|276780|276787|276788|277031|277033|277034|277037|277043|277044|277057|277064|277070|277071|277073|277614|277615|277617|277626|277643|277669|277676|277681|277683|277684|277687|277768|277769|277772|277774|277775|277778|277779|277782|364480|364538|364563|364622|390841|390845|390846|390848|427657|442645|447211|447215|447318|447394|498080|515169|515169|515172|515212|556707|556709|556711|558176|626984|626985|626986|626987|626988|626989|822879|822880|822881|822882|822883|822884|822885|822886|822887|862502|862503|862504|862505|862506|862507|862508|862509|862510|862511|862512|862513|862514|862515|862516|862517|862518|862519|862520|862521|862522|862523|862524|862525|862526|862527|862528|862529|862530|862531|862532|862533|862534|862535|921691|921692|921693|921694|921695|930099|930100|941518|941519|941520|941521|941522|952115|964133", + "upstreamId": "22501|22502|22503|22504|22505|22506|22507|22509|39207|39208|39209|49907|134762|134763|134764|141684|141685|192326|192326|201048|201049|201049|201051|201052|201053|201054|201055|201055|201057|201057|201058|201060|201061|201062|206727|238152|238153|266314|271776|276764|276765|276766|276771|276772|276775|276777|276778|276779|276780|276787|276788|277031|277033|277034|277037|277043|277044|277057|277064|277070|277071|277073|277614|277615|277617|277626|277643|277669|277676|277681|277683|277684|277687|277768|277769|277772|277774|277775|277778|277779|277782|364480|364538|364563|364622|390841|390845|390846|390848|427657|442645|447211|447215|447318|447394|498080|515169|515169|515172|515212|556707|556709|556711|558176|626984|626985|626986|626987|626988|626989|822879|822880|822881|822882|822883|822884|822885|822886|822887|862502|862503|862504|862505|862506|862507|862508|862509|862510|862511|862512|862513|862514|862515|862516|862517|862518|862519|862520|862521|862522|862523|862524|862525|862526|862527|862528|862529|862530|862531|862532|862533|862534|862535|921691|921692|921693|921694|921695|930099|930100|941518|941519|941520|941521|941522|952115|964133", "text": "EAST syndrome" }, { - "baseId": "22501|263305|440711|980561", + "upstreamId": "22501|263305|440711|980561", "text": "Spastic diplegia" }, { - "baseId": "22501|32043|32043|178258|263276|361233|362233|514116|622035|678050|966399|971381", + "upstreamId": "22501|32043|32043|178258|263276|361233|362233|514116|622035|678050|966399|971381", "text": "Bilateral sensorineural hearing impairment" }, { - "baseId": "22501", + "upstreamId": "22501", "text": "Renal tubular dysfunction" }, { - "baseId": "22509|206727", + "upstreamId": "22509|206727", "text": "KCNJ10-Related Disorders" }, { - "baseId": "22510|22511|22512|22514|22515|22516|224659|224660|224661|224662|224663|224664|578361|918554", + "upstreamId": "22510|22511|22512|22514|22515|22516|224659|224660|224661|224662|224663|224664|578361|918554", "text": "Lipid proteinosis" }, { - "baseId": "22517|22518|22519|22521|22522|22523|167391|190380|212614|212614|213813|213814|221739|240172|240173|244506|252932|252933|252934|303433|303434|306832|306834|311679|311681|369273|369610|369611|369980|371362|396034|396139|396419|396422|407258|425764|433611|441143|441144|441146|444162|456919|456922|456923|456925|457448|457451|457455|457590|457593|457917|457918|457923|495216|502159|513581|522263|522820|522826|522828|522834|523065|523269|523374|561763|562170|562179|564415|566151|566153|609669|636336|636337|636338|636339|636340|636341|636342|636343|655804|683935|687114|689885|722659|766403|775277|782931|819916|819917|833835|833836|833837|833838|833839|833840|833841|833842|833843|833844|833845|833846|851658|898405|898406|898407|898408|898409|898410|898411|898412|900402|904502|924904|924905|924906|924907|924908|933993|933994|933995|933996|933997|933998|933999|945758|945759|945760|945761|945762|955216|962980", + "upstreamId": "22517|22518|22519|22521|22522|22523|167391|190380|212614|212614|213813|213814|221739|240172|240173|244506|252932|252933|252934|303433|303434|306832|306834|311679|311681|369273|369610|369611|369980|371362|396034|396139|396419|396422|407258|425764|433611|441143|441144|441146|444162|456919|456922|456923|456925|457448|457451|457455|457590|457593|457917|457918|457923|495216|502159|513581|522263|522820|522826|522828|522834|523065|523269|523374|561763|562170|562179|564415|566151|566153|609669|636336|636337|636338|636339|636340|636341|636342|636343|655804|683935|687114|689885|722659|766403|775277|782931|819916|819917|833835|833836|833837|833838|833839|833840|833841|833842|833843|833844|833845|833846|851658|898405|898406|898407|898408|898409|898410|898411|898412|900402|904502|924904|924905|924906|924907|924908|933993|933994|933995|933996|933997|933998|933999|945758|945759|945760|945761|945762|955216|962980", "text": "Charcot-Marie-Tooth disease axonal type 2F" }, { - "baseId": "22517|22518|22519|22520|22522|22523|22524|190380|212614|212614|240172|252932|252933|252934|303433|303434|306832|306834|311679|311681|369610|371362|407258|441143|441144|522820|522828|540450|551460|551461|551462|655804|687114|898405|898406|898407|898408|898409|898410|898411|898412|900402|945761", + "upstreamId": "22517|22518|22519|22520|22522|22523|22524|190380|212614|212614|240172|252932|252933|252934|303433|303434|306832|306834|311679|311681|369610|371362|407258|441143|441144|522820|522828|540450|551460|551461|551462|655804|687114|898405|898406|898407|898408|898409|898410|898411|898412|900402|945761", "text": "Distal hereditary motor neuronopathy type 2B" }, { - "baseId": "22525", + "upstreamId": "22525", "text": "Age-related macular degeneration 7" }, { - "baseId": "22525", + "upstreamId": "22525", "text": "Susceptibility to neovascular type of age-related macular degeneration" }, { - "baseId": "22526|22527|22528|22529|34176|34177|34178|39200|165895|165896|165897|165898|165899|320969|550880|858653", + "upstreamId": "22526|22527|22528|22529|34176|34177|34178|39200|165895|165896|165897|165898|165899|320969|550880|858653", "text": "CARASIL" }, { - "baseId": "22526", + "upstreamId": "22526", "text": "HTRA1-related cerebral small vessel disease" }, { - "baseId": "22527|263239|514161|514195|514201|789341|789342|789343|802096|806288|904354", + "upstreamId": "22527|263239|514161|514195|514201|789341|789342|789343|802096|806288|904354", "text": "Cognitive impairment" }, { - "baseId": "22527", + "upstreamId": "22527", "text": "Personality changes" }, { - "baseId": "22527", + "upstreamId": "22527", "text": "Small vessel cerebrovascular disease" }, { - "baseId": "22527|222926|222927|222928|222929|514223|514224|514225|514226|514227|514228|514229|964340|965880", + "upstreamId": "22527|222926|222927|222928|222929|514223|514224|514225|514226|514227|514228|514229|964340|965880", "text": "Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2" }, { - "baseId": "22530|22531|22532|513210", + "upstreamId": "22530|22531|22532|513210", "text": "Spondylo-megaepiphyseal-metaphyseal dysplasia" }, { - "baseId": "22534|22535|45735|138608|138610|236946|452155|452531|519195|519196|519197|519333|519341|519344|559451|559453|631265|631266|631267|720421|730212|748220|827979|827980|918162|943503|943504|943505", + "upstreamId": "22534|22535|45735|138608|138610|236946|452155|452531|519195|519196|519197|519333|519341|519344|559451|559453|631265|631266|631267|720421|730212|748220|827979|827980|918162|943503|943504|943505", "text": "Myd88 deficiency" }, { - "baseId": "22536|39199|136176|136177|136178|194374|205776|205777|208144|215733|265482|270785|321956|321958|331256|338053|338054|373322|445266|463934|513639|528556|528946|528947|528950|610618|620501|626234|652631|789128|873027|873028|873029|873030|873031|873032|873033|873034|876469|876470|983844", + "upstreamId": "22536|39199|136176|136177|136178|194374|205776|205777|208144|215733|265482|270785|321956|321958|331256|338053|338054|373322|445266|463934|513639|528556|528946|528947|528950|610618|620501|626234|652631|789128|873027|873028|873029|873030|873031|873032|873033|873034|876469|876470|983844", "text": "Pontocerebellar hypoplasia type 1A" }, { - "baseId": "22536|48180|360506|621025|622148", + "upstreamId": "22536|48180|360506|621025|622148", "text": "Multiple congenital anomalies" }, { - "baseId": "22536|39199|136176|136178|191026|194374|205777|208144|215733|265482|268654|270785|321956|331256|338053|373322|409180|445264|445265|445266|464502|512107|528555|528952|566825|566833|566842|566850|566852|567774|568542|568545|569167|569178|569181|569183|573104|573106|610618|642970|642971|642972|642973|642974|642975|642976|642977|642978|642979|642980|642981|642982|652369|652569|652631|652900|693634|695634|714299|754258|820662|820663|842067|842068|842069|842070|842071|842072|842073|842074|842075|842076|842077|852025|852027|927247|927248|927249|927250|927251|936828|940320|941078|948775|948776|948777|948778|957361|957362|957363|957364|957365|960101|960816|979553|979554|979555|979556|979557|979558", + "upstreamId": "22536|39199|136176|136178|191026|194374|205777|208144|215733|265482|268654|270785|321956|331256|338053|373322|409180|445264|445265|445266|464502|512107|528555|528952|566825|566833|566842|566850|566852|567774|568542|568545|569167|569178|569181|569183|573104|573106|610618|642970|642971|642972|642973|642974|642975|642976|642977|642978|642979|642980|642981|642982|652369|652569|652631|652900|693634|695634|714299|754258|820662|820663|842067|842068|842069|842070|842071|842072|842073|842074|842075|842076|842077|852025|852027|927247|927248|927249|927250|927251|936828|940320|941078|948775|948776|948777|948778|957361|957362|957363|957364|957365|960101|960816|979553|979554|979555|979556|979557|979558", "text": "Pontocerebellar hypoplasia type 1" }, { - "baseId": "22536|70511|136139|136140|171752|194356|315006|440896|454067|487068|487069|521591|563203|564114|576821|576823|621743|621744|621745|622790|625212|633999|651260|788956|819603|861397|904360|916957|917447|974495", + "upstreamId": "22536|70511|136139|136140|171752|194356|315006|440896|454067|487068|487069|521591|563203|564114|576821|576823|621743|621744|621745|622790|625212|633999|651260|788956|819603|861397|904360|916957|917447|974495", "text": "Spinal muscular atrophy" }, { - "baseId": "22537|22538|22539|54162|54163|54164|54165|54166|54168|54169|175943|175944|175945|175946|175948|176086|176089|176092|190836|227360|230541|321447|321453|321456|321458|321464|330711|330712|330713|330714|330716|330717|330723|330724|330725|337342|337344|337351|337352|337356|337357|337377|339371|339379|339386|339389|339391|339392|339398|339399|339401|339407|389245|389246|625876|857685|860125|872698|872699|872700|872701|872702|872703|872704|872705|872706|872707|872708|872709|872710|872711|872712|872713|872714|872715|876453", + "upstreamId": "22537|22538|22539|54162|54163|54164|54165|54166|54168|54169|175943|175944|175945|175946|175948|176086|176089|176092|190836|227360|230541|321447|321453|321456|321458|321464|330711|330712|330713|330714|330716|330717|330723|330724|330725|337342|337344|337351|337352|337356|337357|337377|339371|339379|339386|339389|339391|339392|339398|339399|339401|339407|389245|389246|625876|857685|860125|872698|872699|872700|872701|872702|872703|872704|872705|872706|872707|872708|872709|872710|872711|872712|872713|872714|872715|876453", "text": "Deafness, autosomal recessive 35" }, { - "baseId": "22542", + "upstreamId": "22542", "text": "Waardenburg syndrome type 2D" }, { - "baseId": "22543|28882|28883|28884|28886|28887|28888|28889|28890|28900|28903|50038|50039|50040|50043|50045|138360|138368|171097|171098|221464|221466|221467|221469|221471|221472|221473|221474|227193|239444|239444|239458|239464|239467|239471|239474|239477|239482|239488|239491|239495|239497|239498|251500|251502|251504|251505|293581|293582|293587|293588|293595|293596|293612|295032|295038|295039|295040|298678|298679|298680|298681|298683|298688|298703|298704|298711|305476|305477|305481|309352|309358|309359|309361|314683|314684|314685|314686|314691|314692|314693|314697|314698|314703|380482|394068|394077|394098|394105|394222|394334|394336|394339|394469|394518|394541|453445|453508|453809|453899|520120|520401|562207|563999|723133|829329|890761|890762|890763|890764|890765|890766|890767|890768|890769|890770|890771|890772|890773|890774|890775|890776|890777|890778|890779|890780|890781|890782|890783|891800|899736|899737|899738|899739|899740|899741|899742|899743|899744|899745|899746|899747|899748|899749", + "upstreamId": "22543|28882|28883|28884|28886|28887|28888|28889|28890|28900|28903|50038|50039|50040|50043|50045|138360|138368|171097|171098|221464|221466|221467|221469|221471|221472|221473|221474|227193|239444|239444|239458|239464|239467|239471|239474|239477|239482|239488|239491|239495|239497|239498|251500|251502|251504|251505|293581|293582|293587|293588|293595|293596|293612|295032|295038|295039|295040|298678|298679|298680|298681|298683|298688|298703|298704|298711|305476|305477|305481|309352|309358|309359|309361|314683|314684|314685|314686|314691|314692|314693|314697|314698|314703|380482|394068|394077|394098|394105|394222|394334|394336|394339|394469|394518|394541|453445|453508|453809|453899|520120|520401|562207|563999|723133|829329|890761|890762|890763|890764|890765|890766|890767|890768|890769|890770|890771|890772|890773|890774|890775|890776|890777|890778|890779|890780|890781|890782|890783|891800|899736|899737|899738|899739|899740|899741|899742|899743|899744|899745|899746|899747|899748|899749", "text": "Partial albinism" }, { - "baseId": "22544|28028|39430|45846|255586|514055|918921|966695|966696|971020", + "upstreamId": "22544|28028|39430|45846|255586|514055|918921|966695|966696|971020", "text": "Clubfoot" }, { - "baseId": "22545|22546|22547|22548|22549|33483|187106|249570|249571|249572|277487|277488|277490|277495|277502|277503|277679|277680|277690|277697|277699|278575|278576|278580|278584|278585|278594|278598|278605|278612|278613|278625|278626|278627|278631|278659|278662|434564|789888|789889|789890|862853|862854|862855|862856|862857|862858|862859|862860|862861|862862|862863|862864|862865|862866|862867|862868|918581|964136", + "upstreamId": "22545|22546|22547|22548|22549|33483|187106|249570|249571|249572|277487|277488|277490|277495|277502|277503|277679|277680|277690|277697|277699|278575|278576|278580|278584|278585|278594|278598|278605|278612|278613|278625|278626|278627|278631|278659|278662|434564|789888|789889|789890|862853|862854|862855|862856|862857|862858|862859|862860|862861|862862|862863|862864|862865|862866|862867|862868|918581|964136", "text": "Short stature-pituitary and cerebellar defects-small sella turcica syndrome" }, { - "baseId": "22550|22551|22552|22553|48432|48433|48434|439278|905865", + "upstreamId": "22550|22551|22552|22553|48432|48433|48434|439278|905865", "text": "Mitochondrial complex 1 deficiency, nuclear type 2" }, { - "baseId": "22554|211110|211112|966197", + "upstreamId": "22554|211110|211112|966197", "text": "Mitochondrial complex 1 deficiency, nuclear type 13" }, { - "baseId": 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+ "upstreamId": "22555|22555|22555|22556|22556|22557|22558|22558|22558|22559|99009|99009|99011|99012|99013|99015|99016|99018|99019|101774|135328|135331|177929|177930|177936|186748|186748|186749|186750|186751|186751|186752|186753|186754|186754|186755|186755|186756|186757|186758|186758|186759|186760|191498|191766|191767|192238|194834|194835|194836|199789|199789|214067|214069|214069|226052|226052|237007|247025|252970|252971|252973|252974|252975|252976|252977|259881|259881|266955|267046|267626|268098|268900|269237|269239|270884|271229|271283|271739|272009|272261|272493|272694|272943|272958|275143|275486|275498|275801|276002|276868|276869|277804|277840|280468|281942|286884|286896|286909|289994|290437|299206|299218|299221|300174|300188|300204|301634|301635|303571|303581|303582|303594|303595|303600|303601|303608|303609|305891|305934|305935|307015|307021|307023|307030|307033|307057|307061|307062|307381|307383|307395|307601|307606|307616|309980|311933|311935|311936|311940|311960|311966|311973|311974|311975|311977|314174|315287|315317|315361|315362|315363|318465|318486|320714|320718|320719|326608|326788|326801|327733|327741|327742|332767|332829|332847|334420|334443|334498|334528|337502|337524|337540|344170|344173|344182|345578|345586|347084|347093|351119|351141|351148|353065|353190|353191|357586|357587|357588|357589|357590|357591|357592|357593|357593|357594|357595|357596|357597|357597|357598|357599|357600|357601|357602|357603|357604|357605|357606|357607|357608|357609|357610|357611|357612|357613|357614|357615|357616|357617|357618|357619|357620|357621|357622|357622|357623|357624|357625|357626|357627|357628|415115|434621|434621|481440|481442|486419|487227|489369|489389|489456|489595|489836|491365|492065|493742|494170|522268|538396|544081|544294|544295|544297|544298|544300|544307|544320|544331|544333|544341|544342|544344|544347|544355|544596|544603|544605|544608|544610|544611|544614|544617|544617|544619|544620|544621|544623|544626|544627|544628|544637|544642|544643|544644|544649|544656|544662|544664|544667|544669|544671|544675|544679|544682|544684|544691|544697|544699|544706|544711|544713|544715|544717|544723|544725|552119|564500|578463|582759|582791|585438|585607|585811|587108|587439|588430|589104|619942|619943|620279|621279|636446|636447|636448|636449|636450|636451|636452|651707|683139|711181|711182|722721|722723|736326|736327|736328|736329|750830|759661|766445|766446|766447|766448|766450|766453|766454|766455|766456|766457|766458|766459|766461|766462|766463|775279|775422|782946|782949|787566|791139|791274|791275|798917|798917|801650|801651|801652|801653|801654|801655|801656|818389|818403|819923|819924|833930|833931|833932|833933|833934|833935|833936|833937|833938|833939|833940|833941|833942|833943|833944|833945|852383|852388|852389|898497|898498|898499|898500|898501|898502|898503|898504|898505|898506|898507|898508|898509|898510|898511|898512|898513|898514|898515|898516|898517|898518|900413|900414|900415|900416|900417|900418|955250", "text": "Peroxisome biogenesis disorder 1A (Zellweger)" }, { - "baseId": "22555|22555|22555|22556|22558|22558|22558|99009|186748|186751|186754|186755|186758|194834|199789|199789|214069|226052|259881|266955|271033|271283|272958|357586|357587|357588|357589|357590|357591|357593|357593|357594|357595|357596|357597|357597|357598|357599|357600|357601|357602|357603|357604|357605|357606|357607|357608|357609|357610|357611|357612|357613|357614|357615|357616|357617|357618|357619|357620|357621|357622|357622|357623|357624|357625|357626|357627|357628|434621|486419|487227|489836|493742|538396|544617|578463|582791|626312|798917|801650|801651|801652|801653|801654|801655|801656|955250", + "upstreamId": "22555|22555|22555|22556|22558|22558|22558|99009|186748|186751|186754|186755|186758|194834|199789|199789|214069|226052|259881|266955|271033|271283|272958|357586|357587|357588|357589|357590|357591|357593|357593|357594|357595|357596|357597|357597|357598|357599|357600|357601|357602|357603|357604|357605|357606|357607|357608|357609|357610|357611|357612|357613|357614|357615|357616|357617|357618|357619|357620|357621|357622|357622|357623|357624|357625|357626|357627|357628|434621|486419|487227|489836|493742|538396|544617|578463|582791|626312|798917|801650|801651|801652|801653|801654|801655|801656|955250", "text": "Peroxisome biogenesis disorder 1B" }, { - "baseId": "22555|22555|22556|22558|22558|194834|199789|214067|214068|214069|214070|226052|226053|266955|272958|307030|357592|487227|489836|493742|538396|578463|955250", + "upstreamId": "22555|22555|22556|22558|22558|194834|199789|214067|214068|214069|214070|226052|226053|266955|272958|307030|357592|487227|489836|493742|538396|578463|955250", "text": "Deafness enamel hypoplasia nail defects" }, { - "baseId": "22555", + "upstreamId": "22555", "text": "Peroxisomal disorder" }, { - "baseId": "22555|22558|226047|281791|485898|623144|623176", + "upstreamId": "22555|22558|226047|281791|485898|623144|623176", "text": "Peroxisome biogenesis disorders" }, { - "baseId": "22560", + "upstreamId": "22560", "text": "Celiac disease 4" }, { - "baseId": "22561|22562|22563|22564|22565|22566", + "upstreamId": "22561|22562|22563|22564|22565|22566", "text": "Mitochondrial complex 4 deficiency, nuclear type 3" }, { - "baseId": 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+ "upstreamId": 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"text": "Deafness, autosomal dominant 1" }, { - "baseId": "22568|22569|22572|22573|22574|190447|273149|297678|297679|297687|299869|304055|304057|304410|353705|894419|894420", + "upstreamId": "22568|22569|22572|22573|22574|190447|273149|297678|297679|297687|299869|304055|304057|304410|353705|894419|894420", "text": "Congenital absence of salivary gland" }, { - "baseId": "22570|22571|22572|22573|28335|28336|28337|31393|304410|309577|314378|314379|320877|320916|320937|353705|535686|537787|537788|537789|537790|537791|537792|537793|537868|537869|576111|798979|918969", + "upstreamId": "22570|22571|22572|22573|28335|28336|28337|31393|304410|309577|314378|314379|320877|320916|320937|353705|535686|537787|537788|537789|537790|537791|537792|537793|537868|537869|576111|798979|918969", "text": "Levy-Hollister syndrome" }, { - "baseId": 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+ "upstreamId": 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"text": "Kabuki syndrome 1" }, { - "baseId": 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+ "upstreamId": 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"text": "Kabuki syndrome" }, { - "baseId": "22579|22580|22581|22582|22584|22585|76572|192330|192331|193502|195309|250474|250476|250477|267839|268065|272108|283834|284473|284474|284483|284484|284485|284487|284488|286485|490869|550897|584163|620047|719512|730097|747159|790149|883179|883180|883181|883182|883183|883184|883185|883186|883187|883188|883189|883190|883191|883192|883193|883194|883195|883196|883197|883198|883199|883200|883201|883202|883203|883204|883205|883206|887233", + "upstreamId": "22579|22580|22581|22582|22584|22585|76572|192330|192331|193502|195309|250474|250476|250477|267839|268065|272108|283834|284473|284474|284483|284484|284485|284487|284488|286485|490869|550897|584163|620047|719512|730097|747159|790149|883179|883180|883181|883182|883183|883184|883185|883186|883187|883188|883189|883190|883191|883192|883193|883194|883195|883196|883197|883198|883199|883200|883201|883202|883203|883204|883205|883206|887233", "text": "Multiple epiphyseal dysplasia type 5" }, { - "baseId": "22581|918728|918729", + "upstreamId": "22581|918728|918729", "text": "Osteoarthritis of distal interphalangeal joint" }, { - "baseId": "22583", + "upstreamId": "22583", "text": "Spondyloepimetaphyseal dysplasia Matrilin-3 related" }, { - "baseId": "22584|250474|283829|284474|300941|308567|308577|308607|336275|345986|350356|350371|353490|353554", + "upstreamId": "22584|250474|283829|284474|300941|308567|308577|308607|336275|345986|350356|350371|353490|353554", "text": "Multiple Epiphyseal Dysplasia, Dominant" }, { - "baseId": 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+ "upstreamId": 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"text": "Fibrous dysplasia of jaw" }, { - "baseId": 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+ "upstreamId": "22593|22594|22595|22596|22598|132462|132464|132467|132472|136585|255056|255057|255058|255059|255060|268435|321304|321305|321309|321311|321312|321313|321317|321319|321321|321323|321324|321327|321329|321332|321333|321334|321339|321340|321344|321346|330514|330515|330516|330526|330527|330533|330536|330537|330540|330541|330543|330544|330546|330558|330570|330573|330576|330579|330580|337092|337108|337127|337136|337139|337140|337149|337151|337157|337160|337165|337174|337176|337179|337190|337191|337197|337198|337201|337204|337205|337207|337212|339033|339035|339039|339052|339056|339059|339068|339072|339074|339075|339083|339089|339095|339099|339101|339108|339118|339121|339122|339133|480525|480526|586928|702982|702983|702985|702986|702988|714235|714236|714237|714238|714238|725801|725802|725805|725807|739312|739313|739319|739320|739328|744825|754151|760114|784787|816325|816325|872545|872546|872547|872548|872549|872550|872551|872552|872553|872554|872555|872556|872557|872558|872559|872560|872561|872562|872563|872564|872565|872566|872567|872568|872569|872570|872571|872572|872573|872574|872575|872576|872577|872578|872579|872580|872581|872582|872583|872584|872585|872586|872587|872588|872589|872590|872591|872592|872593|872594|872595|872596|872597|872598|872599|872600|872601|872602|872603|872604|872605|872606|872607|872608|872609|872610|872611|872612|872613|872614|872615|872616|872617|872618|872619|872620|872621|872622|876444|876445|876446|876447|876448", "text": "Glaucoma 3, primary congenital, d" }, { - "baseId": "22593|22597|40306|40307|40308|40309|480525|714238|816325|976016", + "upstreamId": "22593|22597|40306|40307|40308|40309|480525|714238|816325|976016", "text": "Microspherophakia" }, { - "baseId": "22600|200879|200880|200881|200882|200883|200884|237349|461336|461338|461340|461501|461856|462213|514285|514286|526393|526430|526685|526921|539036|564846|566044|566046|566047|570819|640321|640322|640323|640324|687811|687812|693084|693085|693086|693087|693089|695534|701884|752806|752808|777956|838755|838756|851449|851897|926342|935687|935688|956587|960004", + "upstreamId": "22600|200879|200880|200881|200882|200883|200884|237349|461336|461338|461340|461501|461856|462213|514285|514286|526393|526430|526685|526921|539036|564846|566044|566046|566047|570819|640321|640322|640323|640324|687811|687812|693084|693085|693086|693087|693089|695534|701884|752806|752808|777956|838755|838756|851449|851897|926342|935687|935688|956587|960004", "text": "Dental anomalies and short stature" }, { - "baseId": "22601|172300|205196|315159|315163|315211|315212|315213|315214|315218|321981|322027|322030|322032|322033|328076|328136|328148|328154|328155|329321|329332|329343|329394|329396|329408|329409|329411|329413|353203|372716|408474|614168|672084|738296|752966|788858|800955|868782|868798|868799|868800|868801|868802|872136|961788|963068", + "upstreamId": "22601|172300|205196|315159|315163|315211|315212|315213|315214|315218|321981|322027|322030|322032|322033|328076|328136|328148|328154|328155|329321|329332|329343|329394|329396|329408|329409|329411|329413|353203|372716|408474|614168|672084|738296|752966|788858|800955|868782|868798|868799|868800|868801|868802|872136|961788|963068", "text": "Deficiency of transaldolase" }, { - "baseId": "22602|22604", + "upstreamId": "22602|22604", "text": "Conotruncal anomaly face syndrome/velocardiofacial syndrome" }, { - "baseId": "22603|259105|259112|377376|379812|426368|469894|469895|470834|471340|481486|507476|510868|510870|510871|510873|510873|510874|510875|510876|510877|510878|534029|534065|534066|534153|551749|571661|571699|571700|573262|573917|573944|573946|577904|613890|613924|613925|613929|613983|613988|614043|614485|624092|624093|624094|624095|624096|649180|649181|649182|649183|649184|649185|649186|649187|649188|653267|653592|654002|684910|684911|684912|684913|684914|684915|685470|694669|694670|694671|694672|694673|694674|694675|694676|695865|717309|757953|786552|792018|793858|794079|801255|821386|821388|821389|821399|822206|822207|849036|849037|849038|849039|849040|849041|849042|849043|849044|849045|849046|849047|849048|849049|849050|849051|852420|904191|929397|929398|929399|929400|929401|929402|929403|929404|939194|939195|939196|939197|939198|940522|951330|951331|951332|951333|951334|951335|951336|951337|951338|951339|951340|951341|959024|959025|960958|961635|980490", + "upstreamId": "22603|259105|259112|377376|379812|426368|469894|469895|470834|471340|481486|507476|510868|510870|510871|510873|510873|510874|510875|510876|510877|510878|534029|534065|534066|534153|551749|571661|571699|571700|573262|573917|573944|573946|577904|613890|613924|613925|613929|613983|613988|614043|614485|624092|624093|624094|624095|624096|649180|649181|649182|649183|649184|649185|649186|649187|649188|653267|653592|654002|684910|684911|684912|684913|684914|684915|685470|694669|694670|694671|694672|694673|694674|694675|694676|695865|717309|757953|786552|792018|793858|794079|801255|821386|821388|821389|821399|822206|822207|849036|849037|849038|849039|849040|849041|849042|849043|849044|849045|849046|849047|849048|849049|849050|849051|852420|904191|929397|929398|929399|929400|929401|929402|929403|929404|939194|939195|939196|939197|939198|940522|951330|951331|951332|951333|951334|951335|951336|951337|951338|951339|951340|951341|959024|959025|960958|961635|980490", "text": "DiGeorge sequence" }, { - "baseId": "22605|22606|510873|614485|624092|624093|624094|624095|624096|654002|961635|980490", + "upstreamId": "22605|22606|510873|614485|624092|624093|624094|624095|624096|654002|961635|980490", "text": "Shprintzen syndrome" }, { - "baseId": "22614|377479|426375|471580|534298|571992|626321|649493|649494|649495|649496|653721|742891|773545|792061|792062|849338|849339|939314|951473|959095|961990", + "upstreamId": "22614|377479|426375|471580|534298|571992|626321|649493|649494|649495|649496|653721|742891|773545|792061|792062|849338|849339|939314|951473|959095|961990", "text": "Neutrophil immunodeficiency syndrome" }, { - "baseId": "22615", + "upstreamId": "22615", "text": "UCP3 POLYMORPHISM G/A" }, { - "baseId": "22615|22616|22618", + "upstreamId": "22615|22616|22618", "text": "Obesity, severe, and type II diabetes" }, { - "baseId": "22617", + "upstreamId": "22617", "text": "UCP3 POLYMORPHISM, EXON 6 SPLICE DONOR JUNCTION" }, { - "baseId": "22617|23169", + "upstreamId": "22617|23169", "text": "Morbid obesity" }, { - "baseId": "22619|22620|22622|22623|22624|22625|22626|22627", + "upstreamId": "22619|22620|22622|22623|22624|22625|22626|22627", "text": "Refsum disease, adult, 1" }, { - "baseId": "22619|22620|22621|22819|22826|22827|47476|101248|135337|177946|195353|195700|205162|252145|299171|299175|301593|301608|306284|309744|309747|309749|309753|309754|309772|314631|314632|314634|314641|314642|314643|320665|320666|320677|320694|320696|320699|321240|321243|321244|321247|321254|321262|321286|321296|421782|437850|489565|492277|545047|545386|545665|620348|865609|865610|865611|865612|865613|865614|865615|865616|865617|865618|868458", + "upstreamId": "22619|22620|22621|22819|22826|22827|47476|101248|135337|177946|195353|195700|205162|252145|299171|299175|301593|301608|306284|309744|309747|309749|309753|309754|309772|314631|314632|314634|314641|314642|314643|320665|320666|320677|320694|320696|320699|321240|321243|321244|321247|321254|321262|321286|321296|421782|437850|489565|492277|545047|545386|545665|620348|865609|865610|865611|865612|865613|865614|865615|865616|865617|865618|868458", "text": "Phytanic acid storage disease" }, { - "baseId": "22628|22629|538942|576424|578367|626095|718309", + "upstreamId": "22628|22629|538942|576424|578367|626095|718309", "text": "Bartter syndrome, type 4b" }, { - "baseId": "22630|22631|22632|22633|22634|22635|22636|213516|354158|440397|496605|513894|513895|576426|578367|626096|626097|789866|789867|789868|789869|789870|789871|792834|904205|918575|918576|918577|962664|962848|980299", + "upstreamId": "22630|22631|22632|22633|22634|22635|22636|213516|354158|440397|496605|513894|513895|576426|578367|626096|626097|789866|789867|789868|789869|789870|789871|792834|904205|918575|918576|918577|962664|962848|980299", "text": "Bartter syndrome type 3" }, { - "baseId": "22637|22640", + "upstreamId": "22637|22640", "text": "BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS" }, { - "baseId": "22638|22639", + "upstreamId": "22638|22639", "text": "Bartter syndrome, type 3, with hypocalciuria" }, { - "baseId": "22641|29966|29987|215789", + "upstreamId": "22641|29966|29987|215789", "text": "Clear cell carcinoma of kidney" }, { - "baseId": "22642|22643|22644|54043|54045|54130|140875|173997|174135|229489|245264|249662|249663|258459|278403|278404|278407|278408|278409|278415|278417|278418|278419|278425|278428|278431|278432|278434|278440|278442|278448|278450|278452|278475|278477|278481|278483|278484|278485|278487|278489|278497|278500|278501|278502|278505|278506|278507|278508|278509|278519|278520|278521|278522|278544|278554|278555|278558|278560|278563|279623|279624|279626|279628|279630|279631|279632|279633|279634|279641|279643|279663|279664|279667|279679|279681|279682|279691|279694|279697|279699|279700|279701|279712|279713|279722|279723|279725|279726|279729|279742|279745|279747|279750|279752|279759|279773|279785|279786|279788|279789|279790|279792|279793|279794|279802|279808|279819|279820|279825|279827|279828|301040|301063|301069|301070|304010|304029|304032|304033|304034|304045|308731|308785|308786|308822|308823|308824|353797|486661|620711|706988|800816|800817|800818|863266|863267|863268|863269|863270|863271|863272|863273|863274|863275|863276|863277|863278|863279|863280|863281|863282|863283|863284|863285|863286|863287|863288|863289|863290|863291|863292|863293|863294|863295|863296|863297|863298|863299|863300|863301|863302|863303|863304|863305|863306|865090", + "upstreamId": "22642|22643|22644|54043|54045|54130|140875|173997|174135|229489|245264|249662|249663|258459|278403|278404|278407|278408|278409|278415|278417|278418|278419|278425|278428|278431|278432|278434|278440|278442|278448|278450|278452|278475|278477|278481|278483|278484|278485|278487|278489|278497|278500|278501|278502|278505|278506|278507|278508|278509|278519|278520|278521|278522|278544|278554|278555|278558|278560|278563|279623|279624|279626|279628|279630|279631|279632|279633|279634|279641|279643|279663|279664|279667|279679|279681|279682|279691|279694|279697|279699|279700|279701|279712|279713|279722|279723|279725|279726|279729|279742|279745|279747|279750|279752|279759|279773|279785|279786|279788|279789|279790|279792|279793|279794|279802|279808|279819|279820|279825|279827|279828|301040|301063|301069|301070|304010|304029|304032|304033|304034|304045|308731|308785|308786|308822|308823|308824|353797|486661|620711|706988|800816|800817|800818|863266|863267|863268|863269|863270|863271|863272|863273|863274|863275|863276|863277|863278|863279|863280|863281|863282|863283|863284|863285|863286|863287|863288|863289|863290|863291|863292|863293|863294|863295|863296|863297|863298|863299|863300|863301|863302|863303|863304|863305|863306|865090", "text": "Epidermolysis bullosa simplex due to plakophilin deficiency" }, { - "baseId": 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+ "upstreamId": "22645|28764|28765|28766|28767|28770|28771|363959|389668|389738|389769|455495|455502|455503|455505|455510|455521|455522|455524|455529|455593|455594|455596|455597|455599|455621|455623|455626|455627|455636|455637|455641|455650|455652|456099|456101|456111|456116|456117|456119|456329|456331|456333|456345|456354|456357|456358|456369|456370|521541|521544|521551|521552|521562|521563|521565|521566|521568|521837|521838|521842|521854|521856|521859|521897|521902|521903|521905|521907|521912|521913|521918|521923|521926|521929|521931|522223|522224|522225|522240|522242|522257|522259|522267|522273|522278|522280|560680|560684|560686|560688|560758|560779|560781|560790|563506|563507|563514|563518|565544|565548|565555|565557|565558|565559|565562|565566|565579|565581|565584|565585|614305|614306|614523|624311|634806|634807|634808|634809|634810|634811|634812|634813|634814|634823|634824|634825|634826|634827|634828|634829|634830|634831|634832|634833|634834|634835|634836|634837|634838|651548|651551|651603|651648|651650|699539|699540|699541|699542|699551|710433|710434|710436|710437|710438|710449|721971|721972|721974|721975|721976|721986|721987|721988|735604|735605|735607|735608|735609|735617|750026|750028|750031|750032|750033|750038|750040|765633|765636|765644|765650|777715|777721|782512|782513|782521|816314|819683|831788|831789|831790|831791|831792|831793|831794|831795|831796|831797|831798|831799|831800|831801|831802|831803|831804|831805|831806|831807|831817|831818|831819|831820|831821|831822|831823|831824|831825|831826|831827|831828|831829|831830|831831|831832|831833|831834|831835|831836|831837|831838|831839|831840|831841|831842|831843|924319|924320|924321|924322|924323|924324|924325|924326|924328|924329|924330|924331|924332|933270|933271|933272|933273|933278|933279|933280|933281|933282|933283|933284|933285|933286|933287|933288|933289|933290|940035|940842|944963|944964|944973|944974|944975|944976|944977|944978|944979|954416|954417|954418|954419|954420|954421|954422|954423|954424", "text": "Bare lymphocyte syndrome type 1" }, { - "baseId": "22646", + "upstreamId": "22646", "text": "Epilepsy, juvenile myoclonic 6" }, { - "baseId": "22647|190285|190285|201269|361167|440540", + "upstreamId": "22647|190285|190285|201269|361167|440540", "text": "Epilepsy, idiopathic generalized 9" }, { - "baseId": "22647|134010|134011|134012|140354|140358|140359|190285|190285|191506|201269|201269|201270|282202|282203|282204|282210|282211|282215|282225|282228|282238|282249|282262|282263|282264|282275|282285|282287|282292|282867|282873|282889|282890|282897|282908|282909|282910|282911|282912|282915|282916|282937|282940|282941|282942|282946|282954|282983|282986|282988|282989|284475|284478|284479|284480|284481|284482|284492|284493|284498|284519|284520|284799|284801|284803|284815|284818|284819|284822|284851|284852|284875|284876|284882|284883|284884|284885|284889|284893|284898|284904|284921|284923|284924|284925|284934|440540|440542|559292|824976|881201|881202|881203|881204|881205|881206|881207|881208|881209|881210|881211|881212|881213|881214|881215|881216|881217|881218|881219|881220|881221|881222|881223|881224|881225|881226|881227|881228|881229|881230|881231|881232|881233|881234|881235|881236|881237|882814|882815|882816", + "upstreamId": "22647|134010|134011|134012|140354|140358|140359|190285|190285|191506|201269|201269|201270|282202|282203|282204|282210|282211|282215|282225|282228|282238|282249|282262|282263|282264|282275|282285|282287|282292|282867|282873|282889|282890|282897|282908|282909|282910|282911|282912|282915|282916|282937|282940|282941|282942|282946|282954|282983|282986|282988|282989|284475|284478|284479|284480|284481|284482|284492|284493|284498|284519|284520|284799|284801|284803|284815|284818|284819|284822|284851|284852|284875|284876|284882|284883|284884|284885|284889|284893|284898|284904|284921|284923|284924|284925|284934|440540|440542|559292|824976|881201|881202|881203|881204|881205|881206|881207|881208|881209|881210|881211|881212|881213|881214|881215|881216|881217|881218|881219|881220|881221|881222|881223|881224|881225|881226|881227|881228|881229|881230|881231|881232|881233|881234|881235|881236|881237|882814|882815|882816", "text": "Episodic ataxia, type 5" }, { - "baseId": "22654|22655|22656|22657|22658|22659|22659|22660|22662|22663|22664|22667|51644|51647|51649|51650|51653|152780|176733|177784|194284|210301|210309|210310|210319|210324|210325|210328|210330|210333|210334|210347|232095|232096|232100|232102|232102|232113|243574|245166|257314|257318|257324|259048|259057|260802|269659|271031|271482|271491|271733|272587|273271|273422|273424|273773|273836|274369|274616|275499|334804|334808|344693|344701|349662|349672|350661|350668|350671|354182|378180|378183|403597|403600|403647|403650|403653|403654|404136|404142|404145|404160|410730|410730|424902|469325|469327|469328|470292|470295|470846|470851|470854|471364|471365|489021|489156|489782|491402|491416|491752|491938|492111|492576|492962|493267|510818|513380|513664|533433|533434|533475|533475|533476|533490|533492|533514|533515|533517|534001|534002|534004|534012|534015|571131|571147|571149|571156|572850|572851|572857|573463|575076|575505|581951|584331|585450|585460|585521|587275|588302|589491|610482|613920|648573|648574|648575|648576|648577|648578|648579|648580|648581|648582|648583|648584|648585|653189|684865|689181|689184|694526|791970|791971|804908|804909|804910|818579|848209|848210|848211|848212|848213|848214|848215|848216|848217|848218|848219|848220|848221|848222|848223|848224|848225|848226|848227|848228|848229|848230|848231|851842|852367|885805|929141|929142|929143|929144|929145|929146|938908|938909|938910|938911|938912|938913|938914|941250|950986|950987|950988|950989|950990|950991|950992|950993|950994|950995|950996|950997|950998|950999|951000|951001|958779|958780|958781|958782|958783|958784|958785|958786|958787|958788|958789|960310|960933|960934|960935|962804|963076|964528|975665|980583|983469", + "upstreamId": "22654|22655|22656|22657|22658|22659|22659|22660|22662|22663|22664|22667|51644|51647|51649|51650|51653|152780|176733|177784|194284|210301|210309|210310|210319|210324|210325|210328|210330|210333|210334|210347|232095|232096|232100|232102|232102|232113|243574|245166|257314|257318|257324|259048|259057|260802|269659|271031|271482|271491|271733|272587|273271|273422|273424|273773|273836|274369|274616|275499|334804|334808|344693|344701|349662|349672|350661|350668|350671|354182|378180|378183|403597|403600|403647|403650|403653|403654|404136|404142|404145|404160|410730|410730|424902|469325|469327|469328|470292|470295|470846|470851|470854|471364|471365|489021|489156|489782|491402|491416|491752|491938|492111|492576|492962|493267|510818|513380|513664|533433|533434|533475|533475|533476|533490|533492|533514|533515|533517|534001|534002|534004|534012|534015|571131|571147|571149|571156|572850|572851|572857|573463|575076|575505|581951|584331|585450|585460|585521|587275|588302|589491|610482|613920|648573|648574|648575|648576|648577|648578|648579|648580|648581|648582|648583|648584|648585|653189|684865|689181|689184|694526|791970|791971|804908|804909|804910|818579|848209|848210|848211|848212|848213|848214|848215|848216|848217|848218|848219|848220|848221|848222|848223|848224|848225|848226|848227|848228|848229|848230|848231|851842|852367|885805|929141|929142|929143|929144|929145|929146|938908|938909|938910|938911|938912|938913|938914|941250|950986|950987|950988|950989|950990|950991|950992|950993|950994|950995|950996|950997|950998|950999|951000|951001|958779|958780|958781|958782|958783|958784|958785|958786|958787|958788|958789|960310|960933|960934|960935|962804|963076|964528|975665|980583|983469", "text": "Alagille syndrome 1" }, { - "baseId": "22659|22665|232102|410730|533475", + "upstreamId": "22659|22665|232102|410730|533475", "text": "Deafness, congenital heart defects, and posterior embryotoxon" }, { - "baseId": "22668|283984|283986|284744|284747|284753|287112|550211|550212|550213|550214|550215|550216|550217|550218|550219|550220|883349|883350|883351|883352|883353|883354|883355|887241", + "upstreamId": "22668|283984|283986|284744|284747|284753|287112|550211|550212|550213|550214|550215|550216|550217|550218|550219|550220|883349|883350|883351|883352|883353|883354|883355|887241", "text": "Orofacial cleft 10" }, { - "baseId": "22669|39193|513099|535382|590508|612296|622516|622517|622518|622519|625985", + "upstreamId": "22669|39193|513099|535382|590508|612296|622516|622517|622518|622519|625985", "text": "Split-hand/foot malformation 6" }, { - "baseId": "22670", + "upstreamId": "22670", "text": "Bone mineral density quantitative trait locus 12" }, { - "baseId": "22671|22672|22673|23676|251009|251010|289515|289517|289521|289522|289523|289532|289533|289535|289536|289537|290294|290297|290300|290308|290310|290311|293366|293369|293370|293372|293373|293376|293385|293388|293390|293393|293808|293825|481678|686362|686364|763730|888385|888386|888387|888388|888389|888390|888391|888392|888393|888394|888395|888396|888397|888398|888399|888400|888401|888402|888403|888404|888405|888406|888407|888408|888409|888410|888411|888412|888413|888414|888415|970760", + "upstreamId": "22671|22672|22673|23676|251009|251010|289515|289517|289521|289522|289523|289532|289533|289535|289536|289537|290294|290297|290300|290308|290310|290311|293366|293369|293370|293372|293373|293376|293385|293388|293390|293393|293808|293825|481678|686362|686364|763730|888385|888386|888387|888388|888389|888390|888391|888392|888393|888394|888395|888396|888397|888398|888399|888400|888401|888402|888403|888404|888405|888406|888407|888408|888409|888410|888411|888412|888413|888414|888415|970760", "text": "Short stature due to growth hormone secretagogue receptor deficiency" }, { - "baseId": "22674|22675|22676|22677|256700|256701|331951|331960|331963|331964|331970|331977|331978|331980|342169|342171|342190|342192|342194|342200|342201|342204|342206|347540|347545|347560|347561|347562|347563|347565|348920|348921|348923|348931|348934|348935|348937|348938|469854|488356|647366|694288|694289|695796|704638|704640|727759|778464|879517|879518|879519|879520|879521|879522|879523|879524|879525|879526|879527|879528|879529|879530|879531|879532|879533|879534|879535|879536|879537|879538|879539|879540|879541|879542|879543|879544|879545|879546|879547|879548|879549|879550|879551|879552|879553|879554|879555|938477|950572", + "upstreamId": "22674|22675|22676|22677|256700|256701|331951|331960|331963|331964|331970|331977|331978|331980|342169|342171|342190|342192|342194|342200|342201|342204|342206|347540|347545|347560|347561|347562|347563|347565|348920|348921|348923|348931|348934|348935|348937|348938|469854|488356|647366|694288|694289|695796|704638|704640|727759|778464|879517|879518|879519|879520|879521|879522|879523|879524|879525|879526|879527|879528|879529|879530|879531|879532|879533|879534|879535|879536|879537|879538|879539|879540|879541|879542|879543|879544|879545|879546|879547|879548|879549|879550|879551|879552|879553|879554|879555|938477|950572", "text": "Microphthalmia, isolated 3" }, { - "baseId": "22678|22679|141810|141811|141812|141813|141814|238213|249742|249743|249745|279376|279381|279383|279599|279600|279614|279622|280868|280885|280889|280893|280894|281008|281009|281022|281023|281029|390969|391062|391077|391082|447503|447651|515557|515561|515562|515590|627389|683303|683304|683305|685630|690500|780577|780578|818931|818932|823491|863788|863789|863790|863791|863792|863793|863794|863795|863796|863797|863798|865133|930331|930332|941771", + "upstreamId": "22678|22679|141810|141811|141812|141813|141814|238213|249742|249743|249745|279376|279381|279383|279599|279600|279614|279622|280868|280885|280889|280893|280894|281008|281009|281022|281023|281029|390969|391062|391077|391082|447503|447651|515557|515561|515562|515590|627389|683303|683304|683305|685630|690500|780577|780578|818931|818932|823491|863788|863789|863790|863791|863792|863793|863794|863795|863796|863797|863798|865133|930331|930332|941771", "text": "Left-right axis malformations" }, { - "baseId": "22680|22681|22682|49862|250976|250977|265475|289049|289050|289051|289052|289056|289057|289059|289065|289067|289785|289787|289788|289789|289790|289796|289797|292868|292869|292873|292877|292878|293106|293108|293114|293116|293123|293127|293131|293134|486339|536189|620112|708621|720232|720233|720235|720237|720238|763675|798523|888113|888114|888115|888116|888117|888118|888119|888120|888121|888122|888123|888124|888125|888126|888127|888128|888129|888130|888131|888132|888133|888134|888135|888136|888137|888138|888139|888140|888141|891586|918805|969603|969604", + "upstreamId": "22680|22681|22682|49862|250976|250977|265475|289049|289050|289051|289052|289056|289057|289059|289065|289067|289785|289787|289788|289789|289790|289796|289797|292868|292869|292873|292877|292878|293106|293108|293114|293116|293123|293127|293131|293134|486339|536189|620112|708621|720232|720233|720235|720237|720238|763675|798523|888113|888114|888115|888116|888117|888118|888119|888120|888121|888122|888123|888124|888125|888126|888127|888128|888129|888130|888131|888132|888133|888134|888135|888136|888137|888138|888139|888140|888141|891586|918805|969603|969604", "text": "Bruck syndrome 2" }, { - "baseId": "22683|22684|22685|22686", + "upstreamId": "22683|22684|22685|22686", "text": "Bare lymphocyte syndrome, type II, complementation group c" }, { - "baseId": "22687", + "upstreamId": "22687", "text": "Bare lymphocyte syndrome type 2, complementation group E" }, { - "baseId": "22688|22689|22690|22691", + "upstreamId": "22688|22689|22690|22691", "text": "Bare Lymphocyte Syndrome, Type II, Complementation Group D" }, { - "baseId": "22692|22693|22694|22694|22695|22695|22695|22696|22697|22698|141319|141320|141321|191869|191869|191869|192620|192620|195240|196178|196178|214785|227274|229214|229214|229216|229217|229218|229218|229219|229219|229219|229220|229220|229221|229221|229224|229225|229225|229226|229227|229227|229228|229228|229230|229230|229231|229231|229232|246970|246970|268006|268006|270865|294951|294952|294957|294959|294959|294966|294973|294975|294988|294989|296729|296732|296733|296734|300435|300436|300436|300448|300449|300475|300476|300476|300477|300478|357363|357364|357365|357366|357367|357368|357368|357369|357370|357371|357372|357373|357374|357375|357376|357377|357377|357378|357378|357379|357380|421509|433610|487165|487165|487165|491621|492308|492401|492856|495228|495228|496413|496414|496799|513551|543268|543271|543277|543279|543281|543288|543289|543554|543557|543559|543572|543576|543637|543638|543639|543643|543645|543647|543649|543651|543657|543663|543666|543666|543676|543727|543732|543734|543747|543748|543755|543759|543761|543762|543767|543770|543772|543776|549590|560084|585192|585192|585516|585516|585799|586552|586552|588063|612688|612688|621193|621735|621735|632868|632869|632869|632870|632870|660631|709582|721174|721175|721175|721176|749151|749151|749152|749153|764750|764750|774991|774991|775001|782099|782100|782101|782101|787397|790510|793067|801564|819524|829838|829839|829840|829841|851877|892646|892647|892648|892649|892650|892651|892652|892653|892654|892655|892656|892657|892658|896014|923724|923725|932577|932578|940791|953925|953926|963078|965427|978117|978118|978119", + "upstreamId": "22692|22693|22694|22694|22695|22695|22695|22696|22697|22698|141319|141320|141321|191869|191869|191869|192620|192620|195240|196178|196178|214785|227274|229214|229214|229216|229217|229218|229218|229219|229219|229219|229220|229220|229221|229221|229224|229225|229225|229226|229227|229227|229228|229228|229230|229230|229231|229231|229232|246970|246970|268006|268006|270865|294951|294952|294957|294959|294959|294966|294973|294975|294988|294989|296729|296732|296733|296734|300435|300436|300436|300448|300449|300475|300476|300476|300477|300478|357363|357364|357365|357366|357367|357368|357368|357369|357370|357371|357372|357373|357374|357375|357376|357377|357377|357378|357378|357379|357380|421509|433610|487165|487165|487165|491621|492308|492401|492856|495228|495228|496413|496414|496799|513551|543268|543271|543277|543279|543281|543288|543289|543554|543557|543559|543572|543576|543637|543638|543639|543643|543645|543647|543649|543651|543657|543663|543666|543666|543676|543727|543732|543734|543747|543748|543755|543759|543761|543762|543767|543770|543772|543776|549590|560084|585192|585192|585516|585516|585799|586552|586552|588063|612688|612688|621193|621735|621735|632868|632869|632869|632870|632870|660631|709582|721174|721175|721175|721176|749151|749151|749152|749153|764750|764750|774991|774991|775001|782099|782100|782101|782101|787397|790510|793067|801564|819524|829838|829839|829840|829841|851877|892646|892647|892648|892649|892650|892651|892652|892653|892654|892655|892656|892657|892658|896014|923724|923725|932577|932578|940791|953925|953926|963078|965427|978117|978118|978119", "text": "Bifunctional peroxisomal enzyme deficiency" }, { - "baseId": "22694|22695|70522|188976|191869|192620|196178|229214|229218|229219|229220|229221|229225|229227|229228|229230|229231|246970|268006|270865|294959|294989|296734|300436|300476|357368|357377|357378|433610|487165|491621|492308|492401|492856|543666|560084|585192|585516|586552|612688|621735|632868|632869|632870|709582|721174|721175|721176|749151|749152|749153|764750|774991|775001|782099|782100|782101|787397|819524|829838|829839|829840|829841|851877|923724|923725|932577|932578|940791|953925|953926", + "upstreamId": "22694|22695|70522|188976|191869|192620|196178|229214|229218|229219|229220|229221|229225|229227|229228|229230|229231|246970|268006|270865|294959|294989|296734|300436|300476|357368|357377|357378|433610|487165|491621|492308|492401|492856|543666|560084|585192|585516|586552|612688|621735|632868|632869|632870|709582|721174|721175|721176|749151|749152|749153|764750|774991|775001|782099|782100|782101|787397|819524|829838|829839|829840|829841|851877|923724|923725|932577|932578|940791|953925|953926", "text": "Perrault syndrome" }, { - "baseId": "22694", + "upstreamId": "22694", "text": "HSD17B4-Related Disorders" }, { - "baseId": "22694|22695|39184|141319|141320|141321|141322|191869|191869|192620|195240|196178|227274|229214|229217|229218|229219|229219|229220|229221|229224|229225|229226|229227|229228|229230|229231|229232|246970|268006|294951|294952|294957|294959|294966|294973|294975|294988|296729|296732|296733|300435|300436|300448|300449|300475|300476|300477|300478|487165|495228|513551|549590|585799|586552|588063|612688|626016|632870|660631|892646|892647|892648|892649|892650|892651|892652|892653|892654|892655|892656|892657|892658|896014", + "upstreamId": "22694|22695|39184|141319|141320|141321|141322|191869|191869|192620|195240|196178|227274|229214|229217|229218|229219|229219|229220|229221|229224|229225|229226|229227|229228|229230|229231|229232|246970|268006|294951|294952|294957|294959|294966|294973|294975|294988|296729|296732|296733|300435|300436|300448|300449|300475|300476|300477|300478|487165|495228|513551|549590|585799|586552|588063|612688|626016|632870|660631|892646|892647|892648|892649|892650|892651|892652|892653|892654|892655|892656|892657|892658|896014", "text": "Perrault syndrome 1" }, { - "baseId": "22699|22700|22701|22702|75560|75564|328525|328526|328537|328538|328549|328551|328566|328570|328573|338482|338490|338491|338493|338494|338495|338502|338507|338509|338511|338514|344552|344554|344558|344560|344564|344566|344567|344570|344571|344582|344589|344593|344595|344596|344603|344605|345959|345961|345962|345966|345970|345974|345975|345978|345980|345981|345983|345984|345994|362585|362586|362587|362588|485863|681811|740778|877565|877566|877567|877568|877569|877570|877571|877572|877573|877574|877575|877576|877577|877578|877579|877580|877581|877582|877583|877584|877585|877586|877587|877588|877589|877590|877591|877592|877593|877594|877595|877596|877597|877598|877599|877600|877601|877602|877603|877604|880520|880521|880522", + "upstreamId": "22699|22700|22701|22702|75560|75564|328525|328526|328537|328538|328549|328551|328566|328570|328573|338482|338490|338491|338493|338494|338495|338502|338507|338509|338511|338514|344552|344554|344558|344560|344564|344566|344567|344570|344571|344582|344589|344593|344595|344596|344603|344605|345959|345961|345962|345966|345970|345974|345975|345978|345980|345981|345983|345984|345994|362585|362586|362587|362588|485863|681811|740778|877565|877566|877567|877568|877569|877570|877571|877572|877573|877574|877575|877576|877577|877578|877579|877580|877581|877582|877583|877584|877585|877586|877587|877588|877589|877590|877591|877592|877593|877594|877595|877596|877597|877598|877599|877600|877601|877602|877603|877604|880520|880521|880522", "text": "Pseudohypoaldosteronism type 2B" }, { - "baseId": "22703|22704|22705|22706|22707|22708|22709|22710|256829|256830|256833|256834|332833|332855|332859|343022|343023|343024|343026|343028|343029|343040|343047|343052|348360|348363|348364|348365|348368|348370|348372|348378|348393|348396|348397|349535|349536|349539|349541|349543|349544|349545|349546|349547|349548|349552|349555|349556|349559|704852|704853|756829|778507|791915|880126|880127|880128|880129|880130|880131|880132|880133|880134|880135|880136|880137|880138|880139|880140|880141|880142|880143|880144|880145|880146|880147|880148|880149|880150|880151|880152|880153|880154|880155|880156|880157|880158|880159|880160|880714|880715|880716|880717|880718|880719|880720|906179|971345|971346", + "upstreamId": "22703|22704|22705|22706|22707|22708|22709|22710|256829|256830|256833|256834|332833|332855|332859|343022|343023|343024|343026|343028|343029|343040|343047|343052|348360|348363|348364|348365|348368|348370|348372|348378|348393|348396|348397|349535|349536|349539|349541|349543|349544|349545|349546|349547|349548|349552|349555|349556|349559|704852|704853|756829|778507|791915|880126|880127|880128|880129|880130|880131|880132|880133|880134|880135|880136|880137|880138|880139|880140|880141|880142|880143|880144|880145|880146|880147|880148|880149|880150|880151|880152|880153|880154|880155|880156|880157|880158|880159|880160|880714|880715|880716|880717|880718|880719|880720|906179|971345|971346", "text": "Thyroid dyshormonogenesis 1" }, { - "baseId": "22709|27730|27734|27745|187125|227362|249367|260069|264574|281632|282017|282053|284546|299299|301730|301834|301850|306209|306237|306293|306495|306599|313103|321634|321636|322630|332093|332137|339642|360201|578009|578010|578011|620519|672073|722860|816512|873649|976570|976571|976572|976573|976574|976575|976576|976577|976578|976579|976580|976581|976582", + "upstreamId": "22709|27730|27734|27745|187125|227362|249367|260069|264574|281632|282017|282053|284546|299299|301730|301834|301850|306209|306237|306293|306495|306599|313103|321634|321636|322630|332093|332137|339642|360201|578009|578010|578011|620519|672073|722860|816512|873649|976570|976571|976572|976573|976574|976575|976576|976577|976578|976579|976580|976581|976582", "text": "Congenital hypothyroidism" }, { - "baseId": "22711|22712|22712|22713|22714|22715|22716|22717|134928|208008|208009|208010|208012|208013|227174|264505|318850|318855|318858|318860|318861|318862|318866|318867|318871|318873|318877|318878|318879|318886|318887|327235|327243|327246|327249|327251|327256|327261|327265|327267|327268|333353|333354|333361|333369|333370|333378|333382|333384|333385|333386|333387|333388|333388|333389|333398|333403|333405|333409|333416|333417|333418|333419|335099|335103|335107|335108|335112|335113|335116|335127|335129|335130|353262|359989|384422|408785|426723|426724|429475|429476|429478|445109|463453|497022|512045|527458|527480|527483|527484|527493|528006|565859|567102|567161|567173|567180|568249|568252|568254|568256|572195|572195|572200|572204|614386|641538|641539|641540|641541|641542|641543|641544|641545|641546|641547|641548|641549|641550|641551|641552|641553|641554|641555|641556|652508|681829|684381|684382|688098|688099|688100|693323|769391|784519|816324|840515|840516|840517|840518|840519|840520|840521|840522|840523|840524|840525|840526|840527|840528|840529|840530|840531|840532|840533|840534|840535|840536|840537|840538|840539|870669|870670|870671|870672|870673|870674|870675|870676|870677|870678|870679|870680|870681|870682|870683|870684|926796|926797|926798|926799|926800|926801|926802|936330|936331|936332|936333|936334|948251|948252|948253|948254|948255|948256|948257|948258|957015|957016|957017|957018|957019|957020|961964|965988|966798", + "upstreamId": "22711|22712|22712|22713|22714|22715|22716|22717|134928|208008|208009|208010|208012|208013|227174|264505|318850|318855|318858|318860|318861|318862|318866|318867|318871|318873|318877|318878|318879|318886|318887|327235|327243|327246|327249|327251|327256|327261|327265|327267|327268|333353|333354|333361|333369|333370|333378|333382|333384|333385|333386|333387|333388|333388|333389|333398|333403|333405|333409|333416|333417|333418|333419|335099|335103|335107|335108|335112|335113|335116|335127|335129|335130|353262|359989|384422|408785|426723|426724|429475|429476|429478|445109|463453|497022|512045|527458|527480|527483|527484|527493|528006|565859|567102|567161|567173|567180|568249|568252|568254|568256|572195|572195|572200|572204|614386|641538|641539|641540|641541|641542|641543|641544|641545|641546|641547|641548|641549|641550|641551|641552|641553|641554|641555|641556|652508|681829|684381|684382|688098|688099|688100|693323|769391|784519|816324|840515|840516|840517|840518|840519|840520|840521|840522|840523|840524|840525|840526|840527|840528|840529|840530|840531|840532|840533|840534|840535|840536|840537|840538|840539|870669|870670|870671|870672|870673|870674|870675|870676|870677|870678|870679|870680|870681|870682|870683|870684|926796|926797|926798|926799|926800|926801|926802|936330|936331|936332|936333|936334|948251|948252|948253|948254|948255|948256|948257|948258|957015|957016|957017|957018|957019|957020|961964|965988|966798", "text": "Lig4 syndrome" }, { - "baseId": "22712|27386|27395|27397|27405|27408|27409|27641|27642|27645|27646|27650|27652|28375|28377|28378|28938|28939|28940|29000|29006|29007|29009|29010|29011|29013|29755|31370|31371|31382|31967|31968|44227|45735|48247|48857|48938|48939|48940|49030|53970|53980|54283|54284|54289|70450|83949|87578|150515|150855|166215|172332|174177|179419|180995|181000|181025|185350|213392|213398|216786|236459|236461|236462|236469|236479|242980|263939|333388|359197|359952|362753|362755|362768|362770|362771|362772|362822|362826|362842|362844|362867|362868|362912|362952|363174|363201|363247|363248|363249|363250|363251|363253|363254|363255|363256|363257|363321|363322|363323|363361|363362|363363|363443|363444|363445|363446|363447|363453|363454|363455|363456|363461|363462|363463|363464|363465|363466|363467|363468|363496|363497|363498|363499|363503|363504|363505|363506|363507|363508|363518|363519|363520|363521|363522|363523|363524|363525|363531|363534|363535|363552|363560|363561|363562|363563|363564|363565|572195|788676|788677|788678|788679|788680|788681|788682|788683|788684|788685|788686|788687|788688|788689|788690|788691|788692|788693|788694|788695|788696|788697|788698|788699|788700|788701|788702|788703|788704|788705|788706|788707|788708|788709|788710|788711|788712|788713|788714|788715|788716|788717|788718|788719|788720|788721", + "upstreamId": "22712|27386|27395|27397|27405|27408|27409|27641|27642|27645|27646|27650|27652|28375|28377|28378|28938|28939|28940|29000|29006|29007|29009|29010|29011|29013|29755|31370|31371|31382|31967|31968|44227|45735|48247|48857|48938|48939|48940|49030|53970|53980|54283|54284|54289|70450|83949|87578|150515|150855|166215|172332|174177|179419|180995|181000|181025|185350|213392|213398|216786|236459|236461|236462|236469|236479|242980|263939|333388|359197|359952|362753|362755|362768|362770|362771|362772|362822|362826|362842|362844|362867|362868|362912|362952|363174|363201|363247|363248|363249|363250|363251|363253|363254|363255|363256|363257|363321|363322|363323|363361|363362|363363|363443|363444|363445|363446|363447|363453|363454|363455|363456|363461|363462|363463|363464|363465|363466|363467|363468|363496|363497|363498|363499|363503|363504|363505|363506|363507|363508|363518|363519|363520|363521|363522|363523|363524|363525|363531|363534|363535|363552|363560|363561|363562|363563|363564|363565|572195|788676|788677|788678|788679|788680|788681|788682|788683|788684|788685|788686|788687|788688|788689|788690|788691|788692|788693|788694|788695|788696|788697|788698|788699|788700|788701|788702|788703|788704|788705|788706|788707|788708|788709|788710|788711|788712|788713|788714|788715|788716|788717|788718|788719|788720|788721", "text": "Multiple myeloma" }, { - "baseId": "22715|22716", + "upstreamId": "22715|22716", "text": "Multiple myeloma, resistance to" }, { - "baseId": "22720|22721|22722|677068", + "upstreamId": "22720|22721|22722|677068", "text": "Mitochondrial complex 1 deficiency, nuclear type 3" }, { - "baseId": "22723|312425|312426|312428|312431|312432|318307|318310|318316|318319|324451|325187|325188|325189|325192|724209|737748|867065|867066|867067", + "upstreamId": "22723|312425|312426|312428|312431|312432|318307|318310|318316|318319|324451|325187|325188|325189|325192|724209|737748|867065|867066|867067", "text": "Renal hypomagnesemia 2" }, { - "baseId": "22724|22725|22726|22727|22728|22729", + "upstreamId": "22724|22725|22726|22727|22728|22729", "text": "Lactase persistence" }, { - "baseId": "22730|22732|22733|22735|194383|194383|263003|267212|267212|291300|292374|295765|295766|295767|295779|354270|485730|485731|485732|485733|519880|588816|709001|790413|889472|889474|905052", + "upstreamId": "22730|22732|22733|22735|194383|194383|263003|267212|267212|291300|292374|295765|295766|295767|295779|354270|485730|485731|485732|485733|519880|588816|709001|790413|889472|889474|905052", "text": "Septo-optic dysplasia sequence" }, { - "baseId": "22731", + "upstreamId": "22731", "text": "Septooptic dysplasia, mild" }, { - "baseId": "22732|22738|194383|267212|519880|588816", + "upstreamId": "22732|22738|194383|267212|519880|588816", "text": "Growth hormone deficiency with pituitary anomalies" }, { - "baseId": "22734|22736|22737|22739", + "upstreamId": "22734|22736|22737|22739", "text": "Pituitary hormone deficiency, combined 5" }, { - "baseId": "22740|22741|101044|101045|101046|177934|177935|194925|195676|249330|249350|249354|249355|249357|270290|270940|275796|275797|275798|275800|275819|275820|275821|275822|275964|275965|275967|275969|275997|275999|276004|276009|493290|589315|706529|761035|780254|822471|861848|861849|861850|861851|861852|861853|861854|861855|861856|861857|861858|861859|861860|861861|864953|864954", + "upstreamId": "22740|22741|101044|101045|101046|177934|177935|194925|195676|249330|249350|249354|249355|249357|270290|270940|275796|275797|275798|275800|275819|275820|275821|275822|275964|275965|275967|275969|275997|275999|276004|276009|493290|589315|706529|761035|780254|822471|861848|861849|861850|861851|861852|861853|861854|861855|861856|861857|861858|861859|861860|861861|864953|864954", "text": "Peroxisome biogenesis disorder 13A" }, { - "baseId": "22742|39182|39183|190400|192335|193512|193513|193513|250754|273429|274056|275187|286887|286891|286893|286895|286900|286905|286908|287627|287628|287643|287648|287650|287662|287663|287679|287680|287681|287682|287687|287688|287691|287692|287693|287694|287695|287696|287698|289998|290025|290026|290029|290033|290051|290055|290059|290081|290083|290088|290089|290419|290420|290432|290433|290436|489973|490950|492063|492063|492294|492782|493270|493457|513256|558251|558624|560891|560892|561861|561873|584232|584336|585899|587774|588990|759275|826863|826864|826865|826866|826867|826868|826869|826870|858718|885252|885253|885254|885255|885256|885257|885258|885259|885260|885261|885262|885263|885264|885265|885266|885267|885268|885269|885270|885271|885272|885273|885274|885275|885276|885277|885278|885279|885280|885281|885282|885283|885284|885285|885286|885287|885288|885289|922890|931537|931538|943056|943057|943058|943059|943060|943061|943062|953155|953156|953157", + "upstreamId": "22742|39182|39183|190400|192335|193512|193513|193513|250754|273429|274056|275187|286887|286891|286893|286895|286900|286905|286908|287627|287628|287643|287648|287650|287662|287663|287679|287680|287681|287682|287687|287688|287691|287692|287693|287694|287695|287696|287698|289998|290025|290026|290029|290033|290051|290055|290059|290081|290083|290088|290089|290419|290420|290432|290433|290436|489973|490950|492063|492063|492294|492782|493270|493457|513256|558251|558624|560891|560892|561861|561873|584232|584336|585899|587774|588990|759275|826863|826864|826865|826866|826867|826868|826869|826870|858718|885252|885253|885254|885255|885256|885257|885258|885259|885260|885261|885262|885263|885264|885265|885266|885267|885268|885269|885270|885271|885272|885273|885274|885275|885276|885277|885278|885279|885280|885281|885282|885283|885284|885285|885286|885287|885288|885289|922890|931537|931538|943056|943057|943058|943059|943060|943061|943062|953155|953156|953157", "text": "Peroxisome biogenesis disorder 11A" }, { - "baseId": "22743|193513|362041|492063", + "upstreamId": "22743|193513|362041|492063", "text": "Peroxisome biogenesis disorder 11B" }, { - "baseId": "22744|76595|76596|283668|283669|283670|283671|283677|283678|284309|284310|284318|284320|284322|284341|284343|284350|284351|284353|286303|286328|286329|286330|286336|286345|286347|286619|286650|286651|286659|286674|286678|286683|286701|883073|883074|883075|883076|883077|883078|883079|883080|883081|883082|883083|883084|883085|883086|883087|883088|883089|887225", + "upstreamId": "22744|76595|76596|283668|283669|283670|283671|283677|283678|284309|284310|284318|284320|284322|284341|284343|284350|284351|284353|286303|286328|286329|286330|286336|286345|286347|286619|286650|286651|286659|286674|286678|286683|286701|883073|883074|883075|883076|883077|883078|883079|883080|883081|883082|883083|883084|883085|883086|883087|883088|883089|887225", "text": "Myostatin-related muscle hypertrophy" }, { - "baseId": "22745|22746|22747|22748|22749|22750|22751|22752|22753|22755|22756|22757|22758|22759|22760|22761|22762|22764|22765|22766|33995|33996|33997|39181|98707|98709|98710|98711|98714|135422|186951|186952|186953|186954|190245|194819|194820|195874|195875|227382|255943|260132|265315|269607|270096|270549|273389|274802|275109|326612|326617|326759|326761|326762|326769|326771|326773|326776|326777|326778|326779|336422|336552|336555|336558|336559|336574|336575|336582|336585|336588|336591|336592|336598|336603|336607|342659|342661|342662|342845|342846|342849|342851|342853|342856|342858|342862|342864|342866|344271|344479|344480|344482|344485|344487|344488|344489|344490|344491|344492|344493|344494|344497|344499|344501|344505|344509|358377|358378|358379|358380|358381|358382|358383|358384|358385|358386|358387|358388|404826|409752|413427|422115|439326|486815|487801|495633|512230|529859|530674|536476|547799|547801|547803|547808|547809|547811|547819|547828|547841|547844|547847|548087|548089|548091|548093|548098|548101|548105|548110|548120|548121|548543|548549|548557|548573|548584|548586|548588|548591|548594|548597|548601|548605|620565|621550|621551|621847|621848|645097|645098|645099|645100|645101|645102|645103|652487|652882|653070|653167|653169|653316|677326|682106|693952|740440|744878|755472|771135|771136|771137|776389|776393|788090|788092|788213|791648|806409|820892|820896|820897|820898|820901|820902|820903|820904|820905|820906|844457|844458|844459|844460|844461|844462|844463|876116|876117|876118|876119|876120|876121|876122|876123|876124|876125|876126|876127|876128|876129|876130|876131|876132|876133|876134|876135|876136|876137|876138|876139|876731|876732|876733|917222|917543|919680|927996|927997|927998|957907|957908|957909|960856|960857|972601|979810", + "upstreamId": "22745|22746|22747|22748|22749|22750|22751|22752|22753|22755|22756|22757|22758|22759|22760|22761|22762|22764|22765|22766|33995|33996|33997|39181|98707|98709|98710|98711|98714|135422|186951|186952|186953|186954|190245|194819|194820|195874|195875|227382|255943|260132|265315|269607|270096|270549|273389|274802|275109|326612|326617|326759|326761|326762|326769|326771|326773|326776|326777|326778|326779|336422|336552|336555|336558|336559|336574|336575|336582|336585|336588|336591|336592|336598|336603|336607|342659|342661|342662|342845|342846|342849|342851|342853|342856|342858|342862|342864|342866|344271|344479|344480|344482|344485|344487|344488|344489|344490|344491|344492|344493|344494|344497|344499|344501|344505|344509|358377|358378|358379|358380|358381|358382|358383|358384|358385|358386|358387|358388|404826|409752|413427|422115|439326|486815|487801|495633|512230|529859|530674|536476|547799|547801|547803|547808|547809|547811|547819|547828|547841|547844|547847|548087|548089|548091|548093|548098|548101|548105|548110|548120|548121|548543|548549|548557|548573|548584|548586|548588|548591|548594|548597|548601|548605|620565|621550|621551|621847|621848|645097|645098|645099|645100|645101|645102|645103|652487|652882|653070|653167|653169|653316|677326|682106|693952|740440|744878|755472|771135|771136|771137|776389|776393|788090|788092|788213|791648|806409|820892|820896|820897|820898|820901|820902|820903|820904|820905|820906|844457|844458|844459|844460|844461|844462|844463|876116|876117|876118|876119|876120|876121|876122|876123|876124|876125|876126|876127|876128|876129|876130|876131|876132|876133|876134|876135|876136|876137|876138|876139|876731|876732|876733|917222|917543|919680|927996|927997|927998|957907|957908|957909|960856|960857|972601|979810", "text": "Congenital disorder of glycosylation, type Ia" }, { - "baseId": "22767|22768|22769|22769|22770|22771|22772|22773|22774|22776|22776|22777|22778|22778|22779|22781|22782|22783|39179|39180|79358|79359|98344|98345|98346|102590|102591|102592|132472|176950|177657|177659|177660|177661|193369|227243|227244|266801|286180|286182|286193|286194|286198|286203|286222|286225|286936|286937|286940|286946|286948|286949|286950|286952|286953|286959|286962|286972|286981|286985|289251|289253|289257|289263|289265|289268|289275|289276|289286|289289|289290|289291|289624|289631|289634|289639|289655|289656|289660|289672|404760|451009|451194|451210|492426|514468|620087|691154|691155|691156|781326|788753|801602|801603|801604|884813|884814|884815|884816|884817|884818|884819|884820|884821|884822|884823|884824|884825|884826|884827|884828|884829|884830|884831|884832|884833|884834|884835|884836|884837|884838|884839|884840|884841|884842|884843|884844|884845|884846|884847|884848|884849|884850|884851|884852|884853|884854|884855|884856|884857|884858|884859|884860|884861|884862|884863|884864|962065|962068|964200", + "upstreamId": "22767|22768|22769|22769|22770|22771|22772|22773|22774|22776|22776|22777|22778|22778|22779|22781|22782|22783|39179|39180|79358|79359|98344|98345|98346|102590|102591|102592|132472|176950|177657|177659|177660|177661|193369|227243|227244|266801|286180|286182|286193|286194|286198|286203|286222|286225|286936|286937|286940|286946|286948|286949|286950|286952|286953|286959|286962|286972|286981|286985|289251|289253|289257|289263|289265|289268|289275|289276|289286|289289|289290|289291|289624|289631|289634|289639|289655|289656|289660|289672|404760|451009|451194|451210|492426|514468|620087|691154|691155|691156|781326|788753|801602|801603|801604|884813|884814|884815|884816|884817|884818|884819|884820|884821|884822|884823|884824|884825|884826|884827|884828|884829|884830|884831|884832|884833|884834|884835|884836|884837|884838|884839|884840|884841|884842|884843|884844|884845|884846|884847|884848|884849|884850|884851|884852|884853|884854|884855|884856|884857|884858|884859|884860|884861|884862|884863|884864|962065|962068|964200", "text": "Glaucoma 3, primary congenital, A" }, { - "baseId": "22769|22775|22776|22776", + "upstreamId": "22769|22775|22776|22776", "text": "Anterior segment dysgenesis 6" }, { - "baseId": "22769|22776|337201|919543", + "upstreamId": "22769|22776|337201|919543", "text": "Glaucoma 3, primary infantile, b" }, { - "baseId": "22769|22774|22776|22778|22783|98344|177659|259737|266801|451010|492426|514468|691154|691155|691156|697565|697566|781326|826466|826467|953089|953090|960477", + "upstreamId": "22769|22774|22776|22778|22783|98344|177659|259737|266801|451010|492426|514468|691154|691155|691156|697565|697566|781326|826466|826467|953089|953090|960477", "text": "Congenital glaucoma" }, { - "baseId": "22774|79358|79360|177660|263296|629993|654756|962067", + "upstreamId": "22774|79358|79360|177660|263296|629993|654756|962067", "text": "Glaucoma of childhood" }, { - "baseId": "22776|22778|79360|620747", + "upstreamId": "22776|22778|79360|620747", "text": "CYP1B1-Related Disorders" }, { - "baseId": "22776|23128|23133|23487|79358|79361|237249|237580|249980|267189|270847|272086|273530|362087|365343|414803|418809|448226|489784|492837|563473|609191|622992|628136|628137|628138|628141|690635|690636|690637|696788|746547|780725|824218|824219|824220|824221|824222|824223|824224|824225|824226|824227|824228|824229|826466|920589|920590|920591|920592|920593|920594|920595|920596|920597|922113|922114|930589|930590|930591|930592|930593|930594|930595|942025|942026|942027|942028|952463", + "upstreamId": "22776|23128|23133|23487|79358|79361|237249|237580|249980|267189|270847|272086|273530|362087|365343|414803|418809|448226|489784|492837|563473|609191|622992|628136|628137|628138|628141|690635|690636|690637|696788|746547|780725|824218|824219|824220|824221|824222|824223|824224|824225|824226|824227|824228|824229|826466|920589|920590|920591|920592|920593|920594|920595|920596|920597|922113|922114|930589|930590|930591|930592|930593|930594|930595|942025|942026|942027|942028|952463", "text": "Anterior segment dysgenesis" }, { - "baseId": "22778", + "upstreamId": "22778", "text": "Glaucoma, early-onset, digenic" }, { - "baseId": "22778|153828|153829|153830|153831|153832|184524|361481|626126|697345|788749|802132|802133|804988|804989|918741|918742", + "upstreamId": "22778|153828|153829|153830|153831|153832|184524|361481|626126|697345|788749|802132|802133|804988|804989|918741|918742", "text": "Myopathy, centronuclear, 5" }, { - "baseId": "22781|22782|39180", + "upstreamId": "22781|22782|39180", "text": "Glaucoma, primary open angle, juvenile-onset" }, { - "baseId": "22784|22785|22786|22787|22788|22789|22790|22791|22792|22793|22794|22795|22796|22797|22798|195700|259277|259278|317168|317177|317179|317180|317189|317192|317195|317197|317205|317210|317215|317216|317217|317231|317241|317242|317243|317246|317247|317248|317249|317253|317255|324900|324907|324918|324923|324924|324928|324940|324954|324955|324965|324974|331033|331037|331040|331058|331061|331062|331065|331070|331075|331077|331082|331088|331092|332564|332565|332570|332572|332573|332585|332589|332592|332593|332598|332599|332600|332607|332608|332613|332615|332617|332621|332626|332634|332654|622899|702318|713543|725107|738651|738652|769128|784390|839936|869846|869847|869848|869849|869850|869851|869852|869853|869854|869855|869856|869857|869858|869859|869860|869861|869862|869863|869864|869865|869866|869867|869868|869869|869870|869871|869872|869873|869874|869875|869876|869877|869878|869879|869880|869881|869882|869883|869884|869885|869886|869887|869888|869889|869890|872243|980347", + "upstreamId": "22784|22785|22786|22787|22788|22789|22790|22791|22792|22793|22794|22795|22796|22797|22798|195700|259277|259278|317168|317177|317179|317180|317189|317192|317195|317197|317205|317210|317215|317216|317217|317231|317241|317242|317243|317246|317247|317248|317249|317253|317255|324900|324907|324918|324923|324924|324928|324940|324954|324955|324965|324974|331033|331037|331040|331058|331061|331062|331065|331070|331075|331077|331082|331088|331092|332564|332565|332570|332572|332573|332585|332589|332592|332593|332598|332599|332600|332607|332608|332613|332615|332617|332621|332626|332634|332654|622899|702318|713543|725107|738651|738652|769128|784390|839936|869846|869847|869848|869849|869850|869851|869852|869853|869854|869855|869856|869857|869858|869859|869860|869861|869862|869863|869864|869865|869866|869867|869868|869869|869870|869871|869872|869873|869874|869875|869876|869877|869878|869879|869880|869881|869882|869883|869884|869885|869886|869887|869888|869889|869890|872243|980347", "text": "Vitamin D-dependent rickets, type 2" }, { - "baseId": "22799|22801|283918|283932|283934|283937|283939|283943|283944|284609|284610|284615|284618|284619|284623|284624|284626|284632|284637|284638|284641|286548|286549|286550|286551|286974|286980|286982|286983|287008|287011|287012|450412|517602|517606|517629|517633|517785|559037|559039|560532|614239|620048|629285|629286|629287|629288|629289|629290|650720|650909|707942|733071|762785|781107|790152|790153|819098|825566|825567|825568|825569|825570|883239|883240|883241|883242|883243|883244|883245|883246|883247|883248|883249|883250|883251|883252|883253|883254|883255|883256|883257|883258|883259|883260|887236|922511|922512|922513|931074|942553|942554|942555|942556|942557|952879|952880|952881|961929|961930|961931|961932", + "upstreamId": "22799|22801|283918|283932|283934|283937|283939|283943|283944|284609|284610|284615|284618|284619|284623|284624|284626|284632|284637|284638|284641|286548|286549|286550|286551|286974|286980|286982|286983|287008|287011|287012|450412|517602|517606|517629|517633|517785|559037|559039|560532|614239|620048|629285|629286|629287|629288|629289|629290|650720|650909|707942|733071|762785|781107|790152|790153|819098|825566|825567|825568|825569|825570|883239|883240|883241|883242|883243|883244|883245|883246|883247|883248|883249|883250|883251|883252|883253|883254|883255|883256|883257|883258|883259|883260|887236|922511|922512|922513|931074|942553|942554|942555|942556|942557|952879|952880|952881|961929|961930|961931|961932", "text": "Autoimmune lymphoproliferative syndrome type 2B" }, { - "baseId": "22801", + "upstreamId": "22801", "text": "Breast cancer, protection against" }, { - "baseId": "22802|32009", + "upstreamId": "22802|32009", "text": "Lung cancer, protection against" }, { - "baseId": "22803|22803|22808|34579|34579|34580|34580|283838|283842|283847|283853|283853|283858|283859|283866|283866|283867|283868|283868|283887|283888|283893|283895|283896|283900|283902|283909|283913|284489|284490|284499|284505|284505|284516|284516|284517|284517|284518|284521|284524|284525|284549|284550|284552|284561|284570|284571|284573|284574|284589|284601|284602|284607|286493|286493|286495|286499|286500|286500|286508|286510|286514|286517|286520|286522|286523|286534|286535|286544|286546|286547|286885|286885|286907|286907|286910|286918|286919|286922|286925|286926|286932|286934|286951|286954|286956|286965|286967|450370|450376|450409|517511|517593|517598|517601|517619|517622|517775|517780|517783|557861|557863|559033|559035|560509|560518|560518|560525|560527|560529|583046|614238|629276|629277|629278|629279|629279|629280|629281|629282|629283|629284|650714|707941|707941|719517|733068|733069|733069|733070|762782|774649|774654|790150|790151|819096|819097|825556|825557|825558|825559|825560|825561|825562|825563|825564|825565|851386|883207|883208|883208|883209|883210|883211|883212|883213|883214|883215|883216|883217|883218|883219|883220|883221|883222|883223|883224|883225|883226|883227|883228|883229|883230|883231|883232|883233|883234|883235|883236|883237|883238|887234|887235|922508|922509|922510|931071|931072|931073|940684|942546|942547|942548|942549|942550|942551|942552|952876|952877|952878|959620", + "upstreamId": "22803|22803|22808|34579|34579|34580|34580|283838|283842|283847|283853|283853|283858|283859|283866|283866|283867|283868|283868|283887|283888|283893|283895|283896|283900|283902|283909|283913|284489|284490|284499|284505|284505|284516|284516|284517|284517|284518|284521|284524|284525|284549|284550|284552|284561|284570|284571|284573|284574|284589|284601|284602|284607|286493|286493|286495|286499|286500|286500|286508|286510|286514|286517|286520|286522|286523|286534|286535|286544|286546|286547|286885|286885|286907|286907|286910|286918|286919|286922|286925|286926|286932|286934|286951|286954|286956|286965|286967|450370|450376|450409|517511|517593|517598|517601|517619|517622|517775|517780|517783|557861|557863|559033|559035|560509|560518|560518|560525|560527|560529|583046|614238|629276|629277|629278|629279|629279|629280|629281|629282|629283|629284|650714|707941|707941|719517|733068|733069|733069|733070|762782|774649|774654|790150|790151|819096|819097|825556|825557|825558|825559|825560|825561|825562|825563|825564|825565|851386|883207|883208|883208|883209|883210|883211|883212|883213|883214|883215|883216|883217|883218|883219|883220|883221|883222|883223|883224|883225|883226|883227|883228|883229|883230|883231|883232|883233|883234|883235|883236|883237|883238|887234|887235|922508|922509|922510|931071|931072|931073|940684|942546|942547|942548|942549|942550|942551|942552|952876|952877|952878|959620", "text": "Autoimmune lymphoproliferative syndrome, type 2A" }, { - "baseId": "22803|34579|34580|283853|283866|283868|284505|284516|284517|286493|286500|286885|286907|450370|450376|450409|517511|517593|517598|517601|517619|517622|517775|517780|517783|557861|557863|559033|559035|560509|560518|560525|560527|560529|583046|629276|629277|629278|629279|629280|629281|629282|629283|629284|650714|707941|733068|733069|733070|762782|774649|774654|790151|819096|819097|825556|825557|825558|825559|825560|825561|825562|825563|825564|825565|851386|883208|922508|922509|922510|931071|931072|931073|940684|942546|942547|942548|942549|942550|942551|942552|952876|952877|952878|959620", + "upstreamId": "22803|34579|34580|283853|283866|283868|284505|284516|284517|286493|286500|286885|286907|450370|450376|450409|517511|517593|517598|517601|517619|517622|517775|517780|517783|557861|557863|559033|559035|560509|560518|560525|560527|560529|583046|629276|629277|629278|629279|629280|629281|629282|629283|629284|650714|707941|733068|733069|733070|762782|774649|774654|790151|819096|819097|825556|825557|825558|825559|825560|825561|825562|825563|825564|825565|851386|883208|922508|922509|922510|931071|931072|931073|940684|942546|942547|942548|942549|942550|942551|942552|952876|952877|952878|959620", "text": "Autoimmune lymphoproliferative syndrome type 2" }, { - "baseId": "22807|31540|31542|31544|34064|34064|138110|138111|138112|138113|165620|165900|207798|253905|277420|277421|277424|277426|277426|277429|277431|277436|277449|277640|277641|277642|277647|277649|277654|277658|278496|278510|278512|278518|278523|278524|278525|278528|278530|278533|278535|278536|278537|278538|278539|278540|278567|278572|283863|283907|284569|286494|286518|286531|286533|286537|311582|311586|311592|311593|311595|311599|311600|311607|311609|311613|311618|311621|317170|317171|317172|317173|317183|317184|323201|323202|323203|323204|323211|323213|323777|323778|323779|323780|323784|323797|323799|323807|323808|447425|512842|512921|514003|515325|515332|515376|515377|515384|517780|525600|525604|525945|538943|558252|564039|564045|564911|564912|566611|569888|589803|627121|627122|627123|629283|639300|639301|639302|639303|652045|652155|652158|652160|652344|679773|724109|745848|752324|761337|774405|789879|789880|789881|789882|790150|790151|791011|791012|791013|791014|816317|818871|818872|820274|820276|823012|823013|823014|823015|823016|837459|837460|837461|837462|837463|837464|837465|837466|837467|837468|837469|837470|837471|837472|862823|862824|862825|862826|865037|866517|866518|866519|866520|866521|866522|866523|866524|866525|866526|866527|866528|866529|866530|866531|868529|868530|868531|868532|921757|925974|930169|930170|930171|935229|935230|941581|947129|947130", + "upstreamId": "22807|31540|31542|31544|34064|34064|138110|138111|138112|138113|165620|165900|207798|253905|277420|277421|277424|277426|277426|277429|277431|277436|277449|277640|277641|277642|277647|277649|277654|277658|278496|278510|278512|278518|278523|278524|278525|278528|278530|278533|278535|278536|278537|278538|278539|278540|278567|278572|283863|283907|284569|286494|286518|286531|286533|286537|311582|311586|311592|311593|311595|311599|311600|311607|311609|311613|311618|311621|317170|317171|317172|317173|317183|317184|323201|323202|323203|323204|323211|323213|323777|323778|323779|323780|323784|323797|323799|323807|323808|447425|512842|512921|514003|515325|515332|515376|515377|515384|517780|525600|525604|525945|538943|558252|564039|564045|564911|564912|566611|569888|589803|627121|627122|627123|629283|639300|639301|639302|639303|652045|652155|652158|652160|652344|679773|724109|745848|752324|761337|774405|789879|789880|789881|789882|790150|790151|791011|791012|791013|791014|816317|818871|818872|820274|820276|823012|823013|823014|823015|823016|837459|837460|837461|837462|837463|837464|837465|837466|837467|837468|837469|837470|837471|837472|862823|862824|862825|862826|865037|866517|866518|866519|866520|866521|866522|866523|866524|866525|866526|866527|866528|866529|866530|866531|868529|868530|868531|868532|921757|925974|930169|930170|930171|935229|935230|941581|947129|947130", "text": "Autoimmune lymphoproliferative syndrome" }, { - "baseId": "22809|22810|22811|22812|22813|22813|22814|22818|98680|98681|98682|98683|98684|177933|188880|188880|267626|269779|271584|328126|328138|328140|328141|328143|337985|337986|337990|337995|337999|338002|338007|338010|338014|338015|344172|344181|344184|344193|344194|344197|345581|345583|345587|345587|345588|345589|345592|345593|358425|358426|358427|362280|364154|430999|430999|445758|489029|493070|493070|494107|539070|539070|548051|548053|548056|548057|548058|548072|548074|548075|548075|548076|548079|548080|548080|548081|548082|548083|548088|548090|548092|548097|548108|548337|548337|548344|548348|548348|548350|548356|548359|548361|548807|548808|548810|548818|548819|548819|548821|585659|652809|704097|715384|740692|755787|755788|771443|785540|845235|845236|845237|845238|845239|845240|845241|845242|845243|877261|877262|877263|877264|877265|877266|877267|877268|877269|877270|877271|877272|877273|877274|906153|928236|928237|937894|937895|937896|937897|937898|937899|958087|958088|958089|958090|958091", + "upstreamId": "22809|22810|22811|22812|22813|22813|22814|22818|98680|98681|98682|98683|98684|177933|188880|188880|267626|269779|271584|328126|328138|328140|328141|328143|337985|337986|337990|337995|337999|338002|338007|338010|338014|338015|344172|344181|344184|344193|344194|344197|345581|345583|345587|345587|345588|345589|345592|345593|358425|358426|358427|362280|364154|430999|430999|445758|489029|493070|493070|494107|539070|539070|548051|548053|548056|548057|548058|548072|548074|548075|548075|548076|548079|548080|548080|548081|548082|548083|548088|548090|548092|548097|548108|548337|548337|548344|548348|548348|548350|548356|548359|548361|548807|548808|548810|548818|548819|548819|548821|585659|652809|704097|715384|740692|755787|755788|771443|785540|845235|845236|845237|845238|845239|845240|845241|845242|845243|877261|877262|877263|877264|877265|877266|877267|877268|877269|877270|877271|877272|877273|877274|906153|928236|928237|937894|937895|937896|937897|937898|937899|958087|958088|958089|958090|958091", "text": "Peroxisome biogenesis disorder 3A" }, { - "baseId": "22813|22814|22815|22816|22817|22818", + "upstreamId": "22813|22814|22815|22816|22817|22818", "text": "Peroxisomal biogenesis disorder 3b" }, { - "baseId": "22813|22818|98680|98683|98684|177933|188880|267626|345587|358425|358426|358427|364154|364154|430999|445758|493070|494107|539070|548051|548053|548056|548057|548058|548072|548074|548075|548076|548079|548080|548081|548082|548083|548088|548090|548092|548097|548108|548337|548344|548348|548350|548356|548359|548361|548807|548808|548810|548818|548819|548821|919725", + "upstreamId": "22813|22818|98680|98683|98684|177933|188880|267626|345587|358425|358426|358427|364154|364154|430999|445758|493070|494107|539070|548051|548053|548056|548057|548058|548072|548074|548075|548076|548079|548080|548081|548082|548083|548088|548090|548092|548097|548108|548337|548344|548348|548350|548356|548359|548361|548807|548808|548810|548818|548819|548821|919725", "text": "Infantile Refsum's disease" }, { - "baseId": "22819|22819|22819|22820|22821|22822|22823|22824|22825|22826|22827|22827|22829|47477|186699|186700|186701|186702|195227|227291|227291|252144|252145|252145|275145|275439|299176|299180|299188|299189|299194|301586|301589|301590|301591|301592|301612|305982|305983|305994|305997|306285|306298|306301|306302|306304|306305|306306|357420|357421|357422|357423|357424|357425|357426|357427|357428|357429|357430|357431|357432|357433|357434|428524|428525|428526|489565|492277|492277|501556|543621|543622|543623|543627|543934|543938|543940|543941|543942|543944|543946|543948|543950|543954|544035|544056|544060|544063|544069|544073|544074|584563|651523|777665|787464|790592|801609|801610|801611|801612|801613|801614|801615|806370|831609|895450|895451|895452|895453|895454|895455|895456|895457|895458|978217|978218", + "upstreamId": "22819|22819|22819|22820|22821|22822|22823|22824|22825|22826|22827|22827|22829|47477|186699|186700|186701|186702|195227|227291|227291|252144|252145|252145|275145|275439|299176|299180|299188|299189|299194|301586|301589|301590|301591|301592|301612|305982|305983|305994|305997|306285|306298|306301|306302|306304|306305|306306|357420|357421|357422|357423|357424|357425|357426|357427|357428|357429|357430|357431|357432|357433|357434|428524|428525|428526|489565|492277|492277|501556|543621|543622|543623|543627|543934|543938|543940|543941|543942|543944|543946|543948|543950|543954|544035|544056|544060|544063|544069|544073|544074|584563|651523|777665|787464|790592|801609|801610|801611|801612|801613|801614|801615|806370|831609|895450|895451|895452|895453|895454|895455|895456|895457|895458|978217|978218", "text": "Rhizomelic chondrodysplasia punctata type 1" }, { - "baseId": "22819|22824|22827", + "upstreamId": "22819|22824|22827", "text": "PEX7-Related Disorders" }, { - "baseId": "22819|22819|22819|22820|22821|22822|22823|22824|22825|22826|22827|22827|22829|186699|186700|195227|227291|227291|252144|252145|252145|275145|299176|299180|299188|299189|299194|301586|301589|301590|301591|301592|301612|305982|305983|305994|305997|306285|306298|306301|306302|306304|306305|306306|357420|357432|488872|489565|489565|492277|492277|543938|584563|588589|651523|651639|765504|765506|775204|782455|787313|787464|801613|819666|831608|831609|852012|895450|895451|895452|895453|895454|895455|895456|895457|895458|933190|944900|954381|959800|983862", + "upstreamId": "22819|22819|22819|22820|22821|22822|22823|22824|22825|22826|22827|22827|22829|186699|186700|195227|227291|227291|252144|252145|252145|275145|299176|299180|299188|299189|299194|301586|301589|301590|301591|301592|301612|305982|305983|305994|305997|306285|306298|306301|306302|306304|306305|306306|357420|357432|488872|489565|489565|492277|492277|543938|584563|588589|651523|651639|765504|765506|775204|782455|787313|787464|801613|819666|831608|831609|852012|895450|895451|895452|895453|895454|895455|895456|895457|895458|933190|944900|954381|959800|983862", "text": "Peroxisome biogenesis disorder 9B" }, { - "baseId": "22824|167559|167560|167561|188236|249769|252144|281169|281171|283053|283057|283059|283061|283073|283074|283075|283855|283856|283862|283864|283871|283877|285509|285536|285554|285555|285556|285580|285589|285927|285935|285947|285954|285955|285957|285995|299171|299175|301593|301608|305982|306284|489565|543938|707864|707865|719427|816407|816427|881660|977642|977643|977644|977645|977646|977647|977648|977649|977650|977651|977652|977653|977654|977655|977656", + "upstreamId": "22824|167559|167560|167561|188236|249769|252144|281169|281171|283053|283057|283059|283061|283073|283074|283075|283855|283856|283862|283864|283871|283877|285509|285536|285554|285555|285556|285580|285589|285927|285935|285947|285954|285955|285957|285995|299171|299175|301593|301608|305982|306284|489565|543938|707864|707865|719427|816407|816427|881660|977642|977643|977644|977645|977646|977647|977648|977649|977650|977651|977652|977653|977654|977655|977656", "text": "Rhizomelic chondrodysplasia punctata" }, { - "baseId": "22843|22844|22845|22846|281255|281256|281258|281259|281266|281267|281268|281871|281873|281875|281879|281880|281893|283124|283128|283131|283132|283136|283143|283159|283160|283163|283324|283325|283326|283330|283331|283333|283339|283340|353109|513903|550583|620016|654219|654220|789999|799226|799227|864824|864825|864826|864827|864828|864829|864830|864831|864832|865211|904066|918660", + "upstreamId": "22843|22844|22845|22846|281255|281256|281258|281259|281266|281267|281268|281871|281873|281875|281879|281880|281893|283124|283128|283131|283132|283136|283143|283159|283160|283163|283324|283325|283326|283330|283331|283333|283339|283340|353109|513903|550583|620016|654219|654220|789999|799226|799227|864824|864825|864826|864827|864828|864829|864830|864831|864832|865211|904066|918660", "text": "Glomuvenous malformations" }, { - "baseId": "22847|22848|39176|39177|39178|790561", + "upstreamId": "22847|22848|39176|39177|39178|790561", "text": "Primary localized cutaneous amyloidosis 1" }, { - "baseId": "22849|22850|538962|552289|626124|653851|653852|790193|790194", + "upstreamId": "22849|22850|538962|552289|626124|653851|653852|790193|790194", "text": "AICAR transformylase/IMP cyclohydrolase deficiency" }, { - "baseId": 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+ "upstreamId": 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"text": "Cowden syndrome 1" }, { - "baseId": 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"text": "PTEN hamartoma tumor syndrome" }, { - "baseId": 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"text": "Glioblastoma" }, { - "baseId": "22852|27617|27618|27619|27621|27622|27623|27632|28691|28692|28694|28914|28939|29000|29005|29006|29008|29010|29011|29022|29760|31648|31650|31651|31652|40609|48247|48304|48834|48905|48938|48939|49251|53968|53969|53970|53980|53982|53983|53984|54152|54153|54155|54156|54157|54159|54160|54282|54283|54284|54289|54290|54291|54292|54387|54391|54392|54400|54404|54406|54411|54415|54418|54419|54420|54424|54425|54427|54429|54430|54446|54450|54632|54634|83949|132039|137844|172332|173901|174177|174179|174235|174248|174254|175713|175715|175854|175855|175857|176493|176631|176758|214513|216786|224866|227763|263939|267231|362750|362753|362757|362775|362798|362841|362846|362847|362857|362917|362954|362955|362956|362957|362958|362960|362961|362962|363011|363012|363013|363014|363015|363016|363019|363021|363022|363023|363123|363154|363155|363156|363159|363160|363161|363215|363219|363221|363224|363225|363234|625984", + "upstreamId": 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"text": "Neoplasm of brain" }, { - "baseId": 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"text": "Adenocarcinoma of prostate" }, { - "baseId": 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+ "upstreamId": 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"text": "Adenocarcinoma of stomach" }, { - "baseId": "22868|23582|27407|27641|27642|27645|27646|27650|27652|28691|28692|28693|28694|28695|28696|28698|29022|30972|30973|32617|32618|32620|32625|36171|36173|40609|44227|48304|54633|80852|100947|133274|151732|166218|166563|171613|179419|181000|206650|213943|362773|362775|362777|362778|362837|362870|362871|362904|362905|362933|363008|363067|363068|363107|363108|363109|363113|363114|363123|363265|363266|363267|363280|363281|363282|363289|363290|363293|363294|363295|363296|363297|363298|363299|363300|363301|363302|363303|363304|363305|363306|363321|363322|363329|363336|363340|363341|363342|363343|363344|363345|363346|363347|363352|363353|363354|363355|363356|363357|363358|363359|363360|363361|363362|363363|363370|363371|363372|363373|363374|363375|363376|363377|363378|363388|363389|363420|363453|363454|363455|363456|363503|363504|363505|363506|363507|363508|363512|363513|363514|363536|363537", + "upstreamId": 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+ "upstreamId": 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"text": "Uterine Carcinosarcoma" }, { - "baseId": 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"text": "Malignant neoplasm of body of uterus" }, { - "baseId": 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+ "upstreamId": 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"text": "Squamous cell lung carcinoma" }, { - "baseId": "22868|27386|27395|27405|27407|27422|28117|28126|28694|28695|28698|29022|40609|132342|133271|133272|133276|133277|151595|151732|151955|171613|171614|185345|185366|185367|185375|185394|213402|213943|222738|232035|236461|236463|236469|236479|236481|242980|260192|360335|362775|362837|362894|362895|362896|363123|363209|363247|363248|363249|363250|363251|363352|363353|363354|363388|363469|363470|363471|363472|363478|363479|363480|363481|363484|363485|363486|363487|363488|363489|363490|363491|363492|363493|363531|363532|363533|363534|363535|363536|363537|363539|363540|363541|363545|363546|363547|363548|363553|363554|363555|363556|363557|363558|363559|363566|363567|363568|363569|363570|363571|462915|463279|463892|480540|568568", + "upstreamId": "22868|27386|27395|27405|27407|27422|28117|28126|28694|28695|28698|29022|40609|132342|133271|133272|133276|133277|151595|151732|151955|171613|171614|185345|185366|185367|185375|185394|213402|213943|222738|232035|236461|236463|236469|236479|236481|242980|260192|360335|362775|362837|362894|362895|362896|363123|363209|363247|363248|363249|363250|363251|363352|363353|363354|363388|363469|363470|363471|363472|363478|363479|363480|363481|363484|363485|363486|363487|363488|363489|363490|363491|363492|363493|363531|363532|363533|363534|363535|363536|363537|363539|363540|363541|363545|363546|363547|363548|363553|363554|363555|363556|363557|363558|363559|363566|363567|363568|363569|363570|363571|462915|463279|463892|480540|568568", "text": "Small cell lung carcinoma" }, { - "baseId": "22872|22882", + "upstreamId": "22872|22882", "text": "Proteus-like syndrome" }, { - "baseId": "22872|612150|612151|654622", + "upstreamId": "22872|612150|612151|654622", "text": "PTEN-related disorder" }, { - "baseId": "22879", + "upstreamId": "22879", "text": "Glioma susceptibility 2" }, { - "baseId": "22880", + "upstreamId": "22880", "text": "Vater association with macrocephaly and ventriculomegaly" }, { - "baseId": "22893|135209|214793|250439|283467|283472|283474|284153|284155|284156|284159|286058|286064|286079|286087|286090|286434|286437|286438|286440|286441|286442|539990|623251|883011|883012|883013|883014|883015|883016|883017|883018|883019|883020|883021|883022|883023|883024|883025|883026|883027|883028|883029|883030|883031|883032|883033|883034|883035|883036|883037|883038", + "upstreamId": "22893|135209|214793|250439|283467|283472|283474|284153|284155|284156|284159|286058|286064|286079|286087|286090|286434|286437|286438|286440|286441|286442|539990|623251|883011|883012|883013|883014|883015|883016|883017|883018|883019|883020|883021|883022|883023|883024|883025|883026|883027|883028|883029|883030|883031|883032|883033|883034|883035|883036|883037|883038", "text": "Maturity-onset diabetes of the young type 6" }, { - "baseId": "22894|22895|22896|256296|256297|256298|263862|329217|329218|329221|329223|329227|329228|329229|329230|339409|339413|339415|339417|339421|339422|339423|339424|339426|339430|339433|339434|339436|339437|339444|339446|339454|339456|339459|345222|345224|345229|345235|345241|345242|345244|345245|345251|345259|346630|346632|346633|346634|346635|346641|346642|346643|346648|346649|622042|625980|727329|788913|789310|789311|789312|794273|798719|801178|877992|877993|877994|877995|877996|877997|877998|877999|878000|878001|878002|878003|878004|878005|878006|880559|964488|970530", + "upstreamId": "22894|22895|22896|256296|256297|256298|263862|329217|329218|329221|329223|329227|329228|329229|329230|339409|339413|339415|339417|339421|339422|339423|339424|339426|339430|339433|339434|339436|339437|339444|339446|339454|339456|339459|345222|345224|345229|345235|345241|345242|345244|345245|345251|345259|346630|346632|346633|346634|346635|346641|346642|346643|346648|346649|622042|625980|727329|788913|789310|789311|789312|794273|798719|801178|877992|877993|877994|877995|877996|877997|877998|877999|878000|878001|878002|878003|878004|878005|878006|880559|964488|970530", "text": "Coxopodopatellar syndrome" }, { - "baseId": "22897|22898|22899|22900|22901|22902|39175|190855|191404|191688|257266|257267|257269|257270|257272|257273|257276|257277|257279|257282|257286|257287|257288|257293|270316|270572|272092|334731|334733|334735|334740|334741|344541|344546|344547|344548|344553|349574|349575|349578|349580|349582|349584|349585|350587|350590|350591|350594|404841|430277|470265|471339|471341|533421|533424|533450|533452|533455|533459|533460|533482|533489|533495|533499|533501|533961|533963|570291|572831|572832|572834|573435|575067|575068|578571|584124|584527|586257|648526|648527|648528|648529|648530|648531|648532|648533|648534|648535|648536|648537|648538|648539|648540|648541|648542|648543|648544|648545|716771|728488|728489|728490|728491|728492|742211|742212|742213|742214|742215|757340|757341|757344|757346|757347|760841|772975|772978|772980|772982|776642|776649|786315|786317|788229|821301|848158|848159|848160|848161|848162|848163|848164|848165|848166|848167|848168|848169|848170|848171|848172|848173|848174|848175|848176|848177|848178|848179|848180|848181|851838|852361|882729|882730|882731|882732|882733|882734|882735|882971|882972|882973|882974|882975|929130|929131|929132|929133|938895|940495|941249|950964|950965|950966|950967|958764|958765|958766|958767|958768|960307|960930|960931|960932|961984", + "upstreamId": "22897|22898|22899|22900|22901|22902|39175|190855|191404|191688|257266|257267|257269|257270|257272|257273|257276|257277|257279|257282|257286|257287|257288|257293|270316|270572|272092|334731|334733|334735|334740|334741|344541|344546|344547|344548|344553|349574|349575|349578|349580|349582|349584|349585|350587|350590|350591|350594|404841|430277|470265|471339|471341|533421|533424|533450|533452|533455|533459|533460|533482|533489|533495|533499|533501|533961|533963|570291|572831|572832|572834|573435|575067|575068|578571|584124|584527|586257|648526|648527|648528|648529|648530|648531|648532|648533|648534|648535|648536|648537|648538|648539|648540|648541|648542|648543|648544|648545|716771|728488|728489|728490|728491|728492|742211|742212|742213|742214|742215|757340|757341|757344|757346|757347|760841|772975|772978|772980|772982|776642|776649|786315|786317|788229|821301|848158|848159|848160|848161|848162|848163|848164|848165|848166|848167|848168|848169|848170|848171|848172|848173|848174|848175|848176|848177|848178|848179|848180|848181|851838|852361|882729|882730|882731|882732|882733|882734|882735|882971|882972|882973|882974|882975|929130|929131|929132|929133|938895|940495|941249|950964|950965|950966|950967|958764|958765|958766|958767|958768|960307|960930|960931|960932|961984", "text": "Hemophagocytic lymphohistiocytosis, familial, 5" }, { - "baseId": "22903|217245|576126|919089", + "upstreamId": "22903|217245|576126|919089", "text": "Essential hypertension" }, { - "baseId": "22904|429318", + "upstreamId": "22904|429318", "text": "Body mass index quantitative trait locus 4" }, { - "baseId": "22905|22912|227277", + "upstreamId": "22905|22912|227277", "text": "Groenouw corneal dystrophy type I" }, { - "baseId": "22906|578556|578557|972509", + "upstreamId": "22906|578556|578557|972509", "text": "Thiel-Behnke corneal dystrophy" }, { - "baseId": "22907", + "upstreamId": "22907", "text": "Lattice corneal dystrophy Type I" }, { - "baseId": "22908|22911", + "upstreamId": "22908|22911", "text": "Avellino corneal dystrophy" }, { - "baseId": "22909|22911|22915", + "upstreamId": "22909|22911|22915", "text": "Reis-Bucklers' corneal dystrophy" }, { - "baseId": "22910|22914|227277", + "upstreamId": "22910|22914|227277", "text": "Corneal dystrophy, lattice type 3A" }, { - "baseId": 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+ "upstreamId": 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"text": "Corneal dystrophy" }, { - "baseId": "22916|22917", + "upstreamId": "22916|22917", "text": "Corneal epithelial dystrophy" }, { - "baseId": "22918|22921|22921|22927|22927|22933|22933|22937|22937|22941|22942|22943|22944|22946|22948|22949|22950|98777|98777|104923|104959|104959|104972|104973|104997|105113|105173|105181|105183|105199|105200|105279|105292|105317|105320|105327|105394|152795|209342|237637|237682|259682|260778|260779|267810|361623|431632|513015|513016|513244|537088|578345|590238|623246|623247|623248|677405|677405|802124|818176|856058|905048", + "upstreamId": "22918|22921|22921|22927|22927|22933|22933|22937|22937|22941|22942|22943|22944|22946|22948|22949|22950|98777|98777|104923|104959|104959|104972|104973|104997|105113|105173|105181|105183|105199|105200|105279|105292|105317|105320|105327|105394|152795|209342|237637|237682|259682|260778|260779|267810|361623|431632|513015|513016|513244|537088|578345|590238|623246|623247|623248|677405|677405|802124|818176|856058|905048", "text": "Cone-rod dystrophy 3" }, { - "baseId": "22918|29068|29068|105002|137717|166347|172489|179185|196456|202392|244140|244158|244161|244165|250213|273116|354284|365691|384512|384515|384516|384522|384523|384524|384526|461251|461253|461443|461765|461772|461773|461779|461780|461782|462085|462090|462095|462097|462098|462104|526315|526316|526318|526350|526352|526354|526560|526568|526569|526834|526835|539127|551409|564792|565942|567386|567387|567392|567403|570761|570765|640231|640232|640233|640234|640235|693071|693072|693075|693076|804736|838673|838674|838675|838676|838677|838678|920542|926309|926310|935649|947549|947550|947551|956567", + "upstreamId": "22918|29068|29068|105002|137717|166347|172489|179185|196456|202392|244140|244158|244161|244165|250213|273116|354284|365691|384512|384515|384516|384522|384523|384524|384526|461251|461253|461443|461765|461772|461773|461779|461780|461782|462085|462090|462095|462097|462098|462104|526315|526316|526318|526350|526352|526354|526560|526568|526569|526834|526835|539127|551409|564792|565942|567386|567387|567392|567403|570761|570765|640231|640232|640233|640234|640235|693071|693072|693075|693076|804736|838673|838674|838675|838676|838677|838678|920542|926309|926310|935649|947549|947550|947551|956567", "text": "Peripheral neuropathy" }, { - "baseId": "22918|22921|22927|22933|22933|22937|22940|22943|22946|24628|98774|98777|98777|104923|104959|104972|104997|105002|105003|105042|105100|105102|105113|105113|105154|105162|105172|105173|105199|105218|105236|105240|105262|105279|105287|105292|105302|105308|105317|105317|105320|105394|237637|237639|237652|237674|237680|237699|259682|283423|360815|360816|360817|361623|488481|623954|918661|918662|918663|918664|918665", + "upstreamId": "22918|22921|22927|22933|22933|22937|22940|22943|22946|24628|98774|98777|98777|104923|104959|104972|104997|105002|105003|105042|105100|105102|105113|105113|105154|105162|105172|105173|105199|105218|105236|105240|105262|105279|105287|105292|105302|105308|105317|105317|105320|105394|237637|237639|237652|237674|237680|237699|259682|283423|360815|360816|360817|361623|488481|623954|918661|918662|918663|918664|918665", "text": "Age-related macular degeneration 2" }, { - "baseId": 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+ "upstreamId": 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"text": "Cone-Rod Dystrophy, Recessive" }, { - "baseId": 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+ "upstreamId": 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"text": "ABCA4-Related Disorders" }, { - "baseId": "22921|22927|22928|22933|22937|22943|22946|98777|104923|104959|104959|104972|104973|104995|104997|105113|105173|105181|105183|105192|105199|105292|105317|105320|105394|105394|237637|259682|267810|361623|677405", + "upstreamId": "22921|22927|22928|22933|22937|22943|22946|98777|104923|104959|104959|104972|104973|104995|104997|105113|105173|105181|105183|105192|105199|105292|105317|105320|105394|105394|237637|259682|267810|361623|677405", "text": "Retinitis pigmentosa 19" }, { - "baseId": "22924|22927|22943|22952", + "upstreamId": "22924|22927|22943|22952", "text": "MACULAR DEGENERATION, AGE-RELATED, 2, SUSCEPTIBILITY TO" }, { - "baseId": "22931|105317|176969|177101|177232|178143|178144|178145|178146|195331|195671|195955|195956|195957|195958|195959|195960|195961|195962|195963|252020|252021|252022|252023|252024|252025|252026|252027|252028|252029|252030|252031|252032|252033|252034|252035|252036|252037|252038|298213|298214|298218|298219|298229|298230|298232|298238|298239|298243|298244|298249|298250|298251|298252|298256|298258|298265|298266|298274|298275|298279|298284|298285|298290|298291|298294|298298|298299|298302|298303|298304|298305|298306|298310|300523|300528|300534|300536|300537|300546|300553|300555|300557|300559|300560|300564|300565|300570|300571|300584|300585|300587|300588|300596|300597|300618|300619|300620|300622|300623|300624|304783|304785|304787|304788|304790|304792|304793|304794|304796|304797|304798|304799|304800|304801|304808|304823|304824|304828|304838|304839|304844|304848|304858|304859|304861|304864|304865|304875|304881|304882|304885|304886|304893|304899|304902|304905|305051|305066|305070|305071|305072|305073|305077|305078|305083|305089|305094|305107|305109|305110|305115|305116|305117|305119|305120|305122|305123|489874|513968|536136|551408|623988|623990|735244|831182|831183|831184|831214|831225|831229|894774|894775|894776|894777|894778|894779|894780|894781|894782|894783|894784|894785|894786|894787|894788|894789|894790|894791|894792|894793|894794|894795|894796|894797|894798|894799|894800|894801|894802|894803|894804|894805|894806|894807|894808|894809|894810|894811|894812|894813|894814|894815|894816|894817|894818|894819|894820|894821|894822|894823|894824|894825|894826|894827|894828|894829|894830|894831|894832|894833|894834|896140|896141|896142", + "upstreamId": "22931|105317|176969|177101|177232|178143|178144|178145|178146|195331|195671|195955|195956|195957|195958|195959|195960|195961|195962|195963|252020|252021|252022|252023|252024|252025|252026|252027|252028|252029|252030|252031|252032|252033|252034|252035|252036|252037|252038|298213|298214|298218|298219|298229|298230|298232|298238|298239|298243|298244|298249|298250|298251|298252|298256|298258|298265|298266|298274|298275|298279|298284|298285|298290|298291|298294|298298|298299|298302|298303|298304|298305|298306|298310|300523|300528|300534|300536|300537|300546|300553|300555|300557|300559|300560|300564|300565|300570|300571|300584|300585|300587|300588|300596|300597|300618|300619|300620|300622|300623|300624|304783|304785|304787|304788|304790|304792|304793|304794|304796|304797|304798|304799|304800|304801|304808|304823|304824|304828|304838|304839|304844|304848|304858|304859|304861|304864|304865|304875|304881|304882|304885|304886|304893|304899|304902|304905|305051|305066|305070|305071|305072|305073|305077|305078|305083|305089|305094|305107|305109|305110|305115|305116|305117|305119|305120|305122|305123|489874|513968|536136|551408|623988|623990|735244|831182|831183|831184|831214|831225|831229|894774|894775|894776|894777|894778|894779|894780|894781|894782|894783|894784|894785|894786|894787|894788|894789|894790|894791|894792|894793|894794|894795|894796|894797|894798|894799|894800|894801|894802|894803|894804|894805|894806|894807|894808|894809|894810|894811|894812|894813|894814|894815|894816|894817|894818|894819|894820|894821|894822|894823|894824|894825|894826|894827|894828|894829|894830|894831|894832|894833|894834|896140|896141|896142", "text": "Vitreoretinopathy" }, { - "baseId": "22943", + "upstreamId": "22943", "text": "Mandibulofacial dysostosis with mental deficiency" }, { - "baseId": "22945|22946|209346|966073|966083|966086", + "upstreamId": "22945|22946|209346|966073|966083|966086", "text": "Retinal dystrophy, early-onset severe" }, { - "baseId": "22953|227300|481156|539002", + "upstreamId": "22953|227300|481156|539002", "text": "Platelet-activating factor acetylhydrolase deficiency" }, { - "baseId": "22954|22955", + "upstreamId": "22954|22955", "text": "Asthma and atopy, susceptibility to" }, { - "baseId": "22956", + "upstreamId": "22956", "text": "Cranioosteoarthropathy" }, { - "baseId": "22956|22957|22958|165835|165836|273624|292827|292832|292839|292840|292845|292849|292850|292856|292857|292865|292866|292870|292872|292876|292879|294230|294231|294232|294236|294243|294244|294245|294252|297628|297629|297630|297631|297632|297633|297647|297648|297652|297660|297664|297684|297685|297686|297706|297759|297760|297761|297764|297768|297769|297770|297792|353669|590273|698435|734522|781901|890456|890457|890458|890459|890460|890461|890462|890463|890464|890465|890466|890467|890468|890469|890470|890471|962033|962034", + "upstreamId": "22956|22957|22958|165835|165836|273624|292827|292832|292839|292840|292845|292849|292850|292856|292857|292865|292866|292870|292872|292876|292879|294230|294231|294232|294236|294243|294244|294245|294252|297628|297629|297630|297631|297632|297633|297647|297648|297652|297660|297664|297684|297685|297686|297706|297759|297760|297761|297764|297768|297769|297770|297792|353669|590273|698435|734522|781901|890456|890457|890458|890459|890460|890461|890462|890463|890464|890465|890466|890467|890468|890469|890470|890471|962033|962034", "text": "Hypertrophic osteoarthropathy, primary, autosomal recessive, 1" }, { - "baseId": "22958|22959|273624|292827|292832|292839|292840|292845|292849|292850|292856|292857|292865|292866|292870|292872|292876|292879|294230|294231|294232|294236|294243|294244|294245|294252|297628|297629|297630|297631|297632|297633|297647|297648|297652|297660|297664|297684|297685|297686|297706|297759|297760|297761|297764|297768|297769|297770|297792|353669|698435|734522|781901|890456|890457|890458|890459|890460|890461|890462|890463|890464|890465|890466|890467|890468|890469|890470|890471", + "upstreamId": "22958|22959|273624|292827|292832|292839|292840|292845|292849|292850|292856|292857|292865|292866|292870|292872|292876|292879|294230|294231|294232|294236|294243|294244|294245|294252|297628|297629|297630|297631|297632|297633|297647|297648|297652|297660|297664|297684|297685|297686|297706|297759|297760|297761|297764|297768|297769|297770|297792|353669|698435|734522|781901|890456|890457|890458|890459|890460|890461|890462|890463|890464|890465|890466|890467|890468|890469|890470|890471", "text": "Digital clubbing, isolated congenital" }, { - "baseId": "22960|22961|22962|22963|22964|22965|22966|249262", + "upstreamId": "22960|22961|22962|22963|22964|22965|22966|249262", "text": "Meesmann corneal dystrophy 1" }, { - "baseId": "22967|48345|48346|176954|192847|194604|291235|291343|623829|697706|799307|799308|802147|918784|918785|918786|918787", + "upstreamId": "22967|48345|48346|176954|192847|194604|291235|291343|623829|697706|799307|799308|802147|918784|918785|918786|918787", "text": "Retinitis pigmentosa 33" }, { - "baseId": "22968|22969|22972|22973|22974|22977|22978|22979|22980|22982|22984|23347|23347|57270|76604|76605|76606|174402|174539|191976|227325|227326|244016|305811|309843|309847|315085|315202|404778|421688|457953|457954|457957|458600|458603|513072|523521|524023|524284|524294|524296|551558|562319|562492|565208|568091|637384|637385|637386|687317|711627|783152|798604|800834|818258|818259|819982|819983|819984|835026|835027|835028|835029|851209|851702|851704|925258|934416|940912|946175|946176|962717|963360", + "upstreamId": "22968|22969|22972|22973|22974|22977|22978|22979|22980|22982|22984|23347|23347|57270|76604|76605|76606|174402|174539|191976|227325|227326|244016|305811|309843|309847|315085|315202|404778|421688|457953|457954|457957|458600|458603|513072|523521|524023|524284|524294|524296|551558|562319|562492|565208|568091|637384|637385|637386|687317|711627|783152|798604|800834|818258|818259|819982|819983|819984|835026|835027|835028|835029|851209|851702|851704|925258|934416|940912|946175|946176|962717|963360", "text": "Branchiootorenal Syndrome 1" }, { - "baseId": "22970|22971|22977|22982|22983|57264|57265|57269|57270|57271|57272|57273|174400|174402|174537|174538|174539|174540|191976|227326|229622|229623|305789|305793|305795|305799|305809|305811|305812|305813|305817|305820|305824|309803|309808|309827|309829|309835|309836|309837|309841|309843|309847|309855|309857|309858|309866|309868|309870|309884|309886|315036|315040|315043|315067|315069|315081|315083|315084|315085|315100|315101|315102|315105|315114|315194|315199|315201|315202|315204|315205|315206|315215|404778|493047|654755|677035|798603|899976|899977|899978|899979|899980|899981|899982|899983|899984|899985|899986|899987|899988|899989|899990|899991|899992|899993|899994|899995|899996|899997|899998|899999|900000|900513|900514|900515", + "upstreamId": "22970|22971|22977|22982|22983|57264|57265|57269|57270|57271|57272|57273|174400|174402|174537|174538|174539|174540|191976|227326|229622|229623|305789|305793|305795|305799|305809|305811|305812|305813|305817|305820|305824|309803|309808|309827|309829|309835|309836|309837|309841|309843|309847|309855|309857|309858|309866|309868|309870|309884|309886|315036|315040|315043|315067|315069|315081|315083|315084|315085|315100|315101|315102|315105|315114|315194|315199|315201|315202|315204|315205|315206|315215|404778|493047|654755|677035|798603|899976|899977|899978|899979|899980|899981|899982|899983|899984|899985|899986|899987|899988|899989|899990|899991|899992|899993|899994|899995|899996|899997|899998|899999|900000|900513|900514|900515", "text": "Branchiootic syndrome" }, { - "baseId": "22975", + "upstreamId": "22975", "text": "Anterior segment anomalies and cataract" }, { - "baseId": "22976", + "upstreamId": "22976", "text": "Anterior segment anomalies" }, { - "baseId": "22977", + "upstreamId": "22977", "text": "Branchiootorenal syndrome with cataract" }, { - "baseId": "22977|22981|57264|57265|57269|57270|57271|57272|57273|174400|174537|174538|174539|174540|191976|227326|229622|229623|305789|305793|305795|305799|305809|305811|305812|305813|305817|305820|305824|305825|305826|305827|309803|309808|309827|309829|309830|309831|309833|309835|309836|309837|309841|309843|309847|309855|309857|309858|309866|309868|309870|309884|309886|309891|309902|309906|315036|315040|315043|315067|315068|315069|315070|315081|315083|315084|315085|315100|315101|315102|315105|315114|315185|315187|315194|315199|315201|315202|315204|315205|315206|315215|353843|404778|493047|654522|899976|899977|899978|899979|899980|899981|899982|899983|899984|899985|899986|899987|899988|899989|899990|899991|899992|899993|899994|899995|899996|899997|899998|899999|900000|900513|900514|900515|919173|919174", + "upstreamId": "22977|22981|57264|57265|57269|57270|57271|57272|57273|174400|174537|174538|174539|174540|191976|227326|229622|229623|305789|305793|305795|305799|305809|305811|305812|305813|305817|305820|305824|305825|305826|305827|309803|309808|309827|309829|309830|309831|309833|309835|309836|309837|309841|309843|309847|309855|309857|309858|309866|309868|309870|309884|309886|309891|309902|309906|315036|315040|315043|315067|315068|315069|315070|315081|315083|315084|315085|315100|315101|315102|315105|315114|315185|315187|315194|315199|315201|315202|315204|315205|315206|315215|353843|404778|493047|654522|899976|899977|899978|899979|899980|899981|899982|899983|899984|899985|899986|899987|899988|899989|899990|899991|899992|899993|899994|899995|899996|899997|899998|899999|900000|900513|900514|900515|919173|919174", "text": "Otofaciocervical syndrome 1" }, { - "baseId": "22985|22986|22987|22988|22989|22990|22991|22992|22993|22994|22995|22997|22998|22999|23000|39161|190231|190232|193402|277404|277405|277408|277409|277410|277411|277612|277613|277616|277619|277620|277621|277632|277639|278472|278478|278479|278480|278492|278493|278495|278503|278517|614159|731877|862803|862804|862806|862807|862808|862809|862810|862811|862812|862813|862814|862815|862816|862817|862818|862819|862820|862821|862822", + "upstreamId": "22985|22986|22987|22988|22989|22990|22991|22992|22993|22994|22995|22997|22998|22999|23000|39161|190231|190232|193402|277404|277405|277408|277409|277410|277411|277612|277613|277616|277619|277620|277621|277632|277639|278472|278478|278479|278480|278492|278493|278495|278503|278517|614159|731877|862803|862804|862806|862807|862808|862809|862810|862811|862812|862813|862814|862815|862816|862817|862818|862819|862820|862821|862822", "text": "Glaucoma 1, open angle, A" }, { - "baseId": "22994", + "upstreamId": "22994", "text": "Glaucoma 1, open angle, a, autosomal recessive" }, { - "baseId": "22994|190231|193402|247362|277404|277405|277408|277409|277410|277411|277612|277613|277616|277619|277620|277621|277632|277639|278472|278478|278479|278480|278492|278493|278495|278503|278517|360918|360999|389344|731877|862803|862804|862805|862806|862807|862808|862809|862811|862812|862813|862814|862815|862816|862817|862818|862819|862820|862821|862822", + "upstreamId": "22994|190231|193402|247362|277404|277405|277408|277409|277410|277411|277612|277613|277616|277619|277620|277621|277632|277639|278472|278478|278479|278480|278492|278493|278495|278503|278517|360918|360999|389344|731877|862803|862804|862805|862806|862807|862808|862809|862811|862812|862813|862814|862815|862816|862817|862818|862819|862820|862821|862822", "text": "Glaucoma" }, { - "baseId": "22996", + "upstreamId": "22996", "text": "Glaucoma 1, open angle, a, digenic" }, { - "baseId": "22997", + "upstreamId": "22997", "text": "Glaucoma 3, primary congenital, a, digenic" }, { - "baseId": "22997|619971|619972|619973", + "upstreamId": "22997|619971|619972|619973", "text": "MYOC-Related Disorders" }, { - "baseId": "23001", + "upstreamId": "23001", "text": "Spinal muscular atrophy, modifier of" }, { - "baseId": "23001|24203|24204|24207|24208|24209|24211|24212|24215|24217|48111|48112|48113|424702|622775|622789|626372|858314", + "upstreamId": "23001|24203|24204|24207|24208|24209|24211|24212|24215|24217|48111|48112|48113|424702|622775|622789|626372|858314", "text": "Kugelberg-Welander disease" }, { - "baseId": "23002|23003|23004|23005|23006|23007|23008|23009|23010|23011|26848|26850|26857|26863|26872|39160|102150|102152|102153|102154|102156|102157|102158|102159|139891|139892|139893|139894|139895|139896|139897|139898|139899|139900|139901|139902|139903|139904|139905|139906|139907|139908|139909|139910|139911|139912|141585|141586|141587|141588|141589|141590|153060|153104|153122|153258|153570|165745|165746|165747|165748|165749|165750|165751|165752|165753|165754|165755|165756|165757|165758|165759|165760|165761|165762|165763|165764|165765|165766|165767|165768|165769|165770|165771|165772|165773|165774|165775|165776|165777|165778|165779|165780|165781|165782|165783|165784|165785|165786|165787|165788|165789|165790|165791|165792|165793|165794|165795|165796|165797|165798|165799|165800|165801|165802|165919|165920|165921|165922|165923|165924|165925|165926|165927|165928|165929|165930|165931|165932|165933|165934|165935|165936|165937|165938|165939|165940|165941|165942|165943|165944|165945|165946|165947|165948|166474|166478|166533|169077|169078|169079|169083|169084|169085|169086|169087|169088|169089|169090|169091|169092|169093|169094|169095|169096|169097|169098|169099|169100|169101|169102|169103|169104|169105|187486|193733|196435|196438|196439|205805|208160|208161|208162|208163|208164|208165|208169|213632|215013|215015|242023|264716|360214|361963|373993|400542|400846|404014|409190|409191|409195|429625|429627|429628|439324|463959|464538|464761|464765|464796|464802|491540|492278|512117|528617|528969|528974|528982|529041|550660|566886|568553|568557|568563|568615|568620|569188|569191|569216|569219|569220|569224|573133|573137|573140|573142|580004|614015|614017|614020|614021|614136|642994|642995|642996|642997|642998|642999|643000|643001|643002|680053|688393|693648|754325|770057|778228|788886|791432|791433|791434|791435|791436|802004|820665|820666|820669|842080|842081|842082|842083|842084|842085|842086|842087|842088|842089|842090|842091|842092|858691|906351|927258|927259|927260|936829|936830|936831|936832|940321|941079|948780|948781|948782|948783|948784|962873|962874|962875|969569|972727|973104|983697", + "upstreamId": "23002|23003|23004|23005|23006|23007|23008|23009|23010|23011|26848|26850|26857|26863|26872|39160|102150|102152|102153|102154|102156|102157|102158|102159|139891|139892|139893|139894|139895|139896|139897|139898|139899|139900|139901|139902|139903|139904|139905|139906|139907|139908|139909|139910|139911|139912|141585|141586|141587|141588|141589|141590|153060|153104|153122|153258|153570|165745|165746|165747|165748|165749|165750|165751|165752|165753|165754|165755|165756|165757|165758|165759|165760|165761|165762|165763|165764|165765|165766|165767|165768|165769|165770|165771|165772|165773|165774|165775|165776|165777|165778|165779|165780|165781|165782|165783|165784|165785|165786|165787|165788|165789|165790|165791|165792|165793|165794|165795|165796|165797|165798|165799|165800|165801|165802|165919|165920|165921|165922|165923|165924|165925|165926|165927|165928|165929|165930|165931|165932|165933|165934|165935|165936|165937|165938|165939|165940|165941|165942|165943|165944|165945|165946|165947|165948|166474|166478|166533|169077|169078|169079|169083|169084|169085|169086|169087|169088|169089|169090|169091|169092|169093|169094|169095|169096|169097|169098|169099|169100|169101|169102|169103|169104|169105|187486|193733|196435|196438|196439|205805|208160|208161|208162|208163|208164|208165|208169|213632|215013|215015|242023|264716|360214|361963|373993|400542|400846|404014|409190|409191|409195|429625|429627|429628|439324|463959|464538|464761|464765|464796|464802|491540|492278|512117|528617|528969|528974|528982|529041|550660|566886|568553|568557|568563|568615|568620|569188|569191|569216|569219|569220|569224|573133|573137|573140|573142|580004|614015|614017|614020|614021|614136|642994|642995|642996|642997|642998|642999|643000|643001|643002|680053|688393|693648|754325|770057|778228|788886|791432|791433|791434|791435|791436|802004|820665|820666|820669|842080|842081|842082|842083|842084|842085|842086|842087|842088|842089|842090|842091|842092|858691|906351|927258|927259|927260|936829|936830|936831|936832|940321|941079|948780|948781|948782|948783|948784|962873|962874|962875|969569|972727|973104|983697", "text": "Angelman syndrome" }, { - "baseId": "23012|23013|23014|23015|23016|23016|23017|23018|23019|23021|23023|28324|31379|138125|138127|138129|138131|139286|193378|193379|236942|236942|252665|253699|253700|253704|253706|268579|268591|309577|309579|309582|309583|309584|309585|309587|309588|309600|309606|309607|309608|314366|314367|314377|314378|314379|314389|314395|314396|314414|314416|314418|314419|314420|314421|314431|320436|320439|320440|320447|320448|320459|320461|320462|320467|320469|320470|320865|320874|320875|320877|320883|320884|320908|320909|320916|320920|320934|320936|320937|320942|320947|415094|415094|431983|456538|456820|456935|456940|457165|457597|457599|503156|522519|522755|522762|522825|522829|522830|523183|561759|561768|566649|566651|566659|566662|569547|635970|635971|635972|635973|635974|635975|635976|679249|682491|692201|692202|699993|701223|737381|790715|815986|833416|833417|865489|865490|865491|865492|865493|865494|865495|865496|865497|865498|865499|865500|865501|865502|865503|865504|865505|865506|865507|865508|865509|865510|865511|865512|865513|865514|868451|868452|868453|919097|924782|933812|933813|955106|955107|962161|969280|969281|969289", + "upstreamId": "23012|23013|23014|23015|23016|23016|23017|23018|23019|23021|23023|28324|31379|138125|138127|138129|138131|139286|193378|193379|236942|236942|252665|253699|253700|253704|253706|268579|268591|309577|309579|309582|309583|309584|309585|309587|309588|309600|309606|309607|309608|314366|314367|314377|314378|314379|314389|314395|314396|314414|314416|314418|314419|314420|314421|314431|320436|320439|320440|320447|320448|320459|320461|320462|320467|320469|320470|320865|320874|320875|320877|320883|320884|320908|320909|320916|320920|320934|320936|320937|320942|320947|415094|415094|431983|456538|456820|456935|456940|457165|457597|457599|503156|522519|522755|522762|522825|522829|522830|523183|561759|561768|566649|566651|566659|566662|569547|635970|635971|635972|635973|635974|635975|635976|679249|682491|692201|692202|699993|701223|737381|790715|815986|833416|833417|865489|865490|865491|865492|865493|865494|865495|865496|865497|865498|865499|865500|865501|865502|865503|865504|865505|865506|865507|865508|865509|865510|865511|865512|865513|865514|868451|868452|868453|919097|924782|933812|933813|955106|955107|962161|969280|969281|969289", "text": "Saethre-Chotzen syndrome" }, { - "baseId": "23016|23023|23024|23025|70565|70566|70567|236942|236942|252665|361136|415094|456538|456820|456935|456940|457597|457599|468850|469875|469877|470296|470299|470963|522519|522755|522762|522825|522829|522830|523183|533064|533066|533147|533175|561759|561768|566649|566651|566659|566662|570836|574986|635970|635971|635972|635973|635974|635975|635976|689088|689089|692201|692202|694439|694442|695828|699993|705042|741931|786211|790715|833416|833417|847754|924782|928988|928989|933812|933813|938718|938719|950815|955106|955107|958651|962161", + "upstreamId": "23016|23023|23024|23025|70565|70566|70567|236942|236942|252665|361136|415094|456538|456820|456935|456940|457597|457599|468850|469875|469877|470296|470299|470963|522519|522755|522762|522825|522829|522830|523183|533064|533066|533147|533175|561759|561768|566649|566651|566659|566662|570836|574986|635970|635971|635972|635973|635974|635975|635976|689088|689089|692201|692202|694439|694442|695828|699993|705042|741931|786211|790715|833416|833417|847754|924782|928988|928989|933812|933813|938718|938719|950815|955106|955107|958651|962161", "text": "Craniosynostosis 1" }, { - "baseId": "23020|23023|236942", + "upstreamId": "23020|23023|236942", "text": "Robinow-Sorauf syndrome" }, { - "baseId": "23022", + "upstreamId": "23022", "text": "Saethre-Chotzen syndrome with eyelid anomalies" }, { - "baseId": "23026|23027|23028|23029|40565|195350|254425|254427|266615|273010|316116|316117|316121|316123|316124|316126|316128|316129|316142|316145|316146|316147|316152|316154|316155|316157|316158|316160|316161|323363|323366|323367|323370|323374|323375|323377|323391|323392|323394|323395|323412|323416|323417|323428|323440|323441|323443|323444|329568|329569|329575|329587|329588|329594|329595|329596|329599|329601|329613|329616|329617|329631|329632|329633|329640|329644|329646|329647|329649|329658|330721|330728|330730|330731|330735|330740|330744|330752|330755|330757|330759|330761|330765|330768|330769|330770|330771|330777|330783|330793|330794|330798|330802|330806|330830|404621|490883|566344|581960|584835|702145|702146|724903|852437|869345|869346|869347|869348|869349|869350|869351|869352|869353|869354|869355|869356|869357|869358|869359|869360|869361|869362|869363|869364|869365|869366|869367|869368|869369|869370|919412|926470|960775", + "upstreamId": "23026|23027|23028|23029|40565|195350|254425|254427|266615|273010|316116|316117|316121|316123|316124|316126|316128|316129|316142|316145|316146|316147|316152|316154|316155|316157|316158|316160|316161|323363|323366|323367|323370|323374|323375|323377|323391|323392|323394|323395|323412|323416|323417|323428|323440|323441|323443|323444|329568|329569|329575|329587|329588|329594|329595|329596|329599|329601|329613|329616|329617|329631|329632|329633|329640|329644|329646|329647|329649|329658|330721|330728|330730|330731|330735|330740|330744|330752|330755|330757|330759|330761|330765|330768|330769|330770|330771|330777|330783|330793|330794|330798|330802|330806|330830|404621|490883|566344|581960|584835|702145|702146|724903|852437|869345|869346|869347|869348|869349|869350|869351|869352|869353|869354|869355|869356|869357|869358|869359|869360|869361|869362|869363|869364|869365|869366|869367|869368|869369|869370|919412|926470|960775", "text": "Ulnar-mammary syndrome" }, { - "baseId": 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+ "upstreamId": "23030|23031|23032|23033|23034|23035|23036|23037|23038|45761|143119|165589|178439|192196|194372|195854|209426|209429|209430|209431|209432|209434|209436|209439|209440|209441|209442|209444|210203|210214|210215|210216|224188|226714|237520|238210|249731|254419|254420|254421|257940|258718|260009|264579|273935|279092|280529|316066|316067|316071|316075|316077|316078|316080|316081|316107|316108|316113|316115|323314|323321|323332|323333|323334|323336|323338|323352|323354|323360|329524|329530|329531|329534|329536|329539|329540|329542|329548|329549|329556|329557|329564|329565|329567|330635|330639|330642|330645|330646|330652|330658|330659|330664|330671|330672|330673|330674|330675|330681|330690|330696|330698|330700|330704|330706|353903|361158|361746|364644|364755|364782|364894|390968|390985|391030|391044|391046|391063|391064|434565|442719|444920|447488|447491|447497|447499|447623|447624|447625|447630|447783|447790|447794|461851|481488|486712|498297|509132|510351|510353|510354|514885|515538|515541|515548|515571|515585|552355|556784|556786|556788|556856|557147|557149|557151|558345|566343|571281|614044|622152|622153|622154|622155|622156|622157|622158|622159|622160|622161|622162|622163|622164|622165|622166|622167|622168|622169|622170|622171|622172|622173|622174|622175|622176|622177|622178|622179|622180|622181|622182|622183|622184|622185|622186|622187|622188|622189|622190|622191|622192|622193|622194|622195|622196|622197|622198|622199|622200|622201|622202|622203|622204|622205|622206|627369|627370|627371|627372|627373|627374|627375|627376|627377|650543|650569|690019|791198|794581|818752|818926|818927|818928|818929|818930|823471|823472|823473|823474|823475|823476|823477|858254|869318|869319|869320|869321|869322|869323|869324|869325|869326|869327|869328|869329|869330|869331|869332|869333|869334|869335|869336|869337|869338|869339|869340|869341|869342|869343|869344|872192|917104|921845|921846|921847|930326|930327|941763|941764|941765|941766|941767|952300|952301|952302|960024", "text": "Holt-Oram syndrome" }, { - "baseId": "23032|23034|45781|45782|192196|195854|210203|210214|210215|210216|241240|242093|242094|242095|242096|242097|242098|242100|242101|254420|258715|258718|264579|329557|363991|398451|398833|398835|398842|398963|398968|400288|400289|400291|400294|400304|400307|400314|400316|400450|400453|400795|400797|400802|401078|404705|429714|444920|461633|461851|462123|462188|462426|462429|464428|464444|465055|465060|465062|465069|465070|465242|465246|465312|465323|465332|487554|487573|490889|510348|510353|510354|526687|526920|527252|528990|528992|529089|529584|565055|565056|566342|566343|567675|569043|571275|571277|571281|581908|622175|623399|640641|640642|640643|643477|643478|643479|643480|643481|643482|643483|643484|643485|643486|643487|643488|643489|643490|643491|643492|643493|643494|652165|652207|652365|687885|688465|688466|688470|693726|695550|703296|820445|839327|839328|839329|839330|839331|839332|839333|839334|839335|839336|842605|842606|842607|842608|842609|842610|842611|842612|842613|842614|842615|842616|842617|851476|852434|852608|926469|927399|927400|937024|937025|937026|937027|937028|947791|948981|948982|956749|956750|956751|957474|957475|957476|957477|960024", + "upstreamId": "23032|23034|45781|45782|192196|195854|210203|210214|210215|210216|241240|242093|242094|242095|242096|242097|242098|242100|242101|254420|258715|258718|264579|329557|363991|398451|398833|398835|398842|398963|398968|400288|400289|400291|400294|400304|400307|400314|400316|400450|400453|400795|400797|400802|401078|404705|429714|444920|461633|461851|462123|462188|462426|462429|464428|464444|465055|465060|465062|465069|465070|465242|465246|465312|465323|465332|487554|487573|490889|510348|510353|510354|526687|526920|527252|528990|528992|529089|529584|565055|565056|566342|566343|567675|569043|571275|571277|571281|581908|622175|623399|640641|640642|640643|643477|643478|643479|643480|643481|643482|643483|643484|643485|643486|643487|643488|643489|643490|643491|643492|643493|643494|652165|652207|652365|687885|688465|688466|688470|693726|695550|703296|820445|839327|839328|839329|839330|839331|839332|839333|839334|839335|839336|842605|842606|842607|842608|842609|842610|842611|842612|842613|842614|842615|842616|842617|851476|852434|852608|926469|927399|927400|937024|937025|937026|937027|937028|947791|948981|948982|956749|956750|956751|957474|957475|957476|957477|960024", "text": "Aortic valve disease 2" }, { - "baseId": "23039|23040|171809", + "upstreamId": "23039|23040|171809", "text": "Hypotrichosis-lymphedema-telangiectasia syndrome" }, { - "baseId": "23041|427113", + "upstreamId": "23041|427113", "text": "Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome" }, { - "baseId": "23042|23043|23044|23045|23046|23047|23048|23049|205171", + "upstreamId": "23042|23043|23044|23045|23046|23047|23048|23049|205171", "text": "Fundus albipunctatus, autosomal recessive" }, { - "baseId": "23042|23044|23045|28052|28059|28084|28136|98753|98754|104543|104548|104554|104561|104573|104592|104611|142607|142608|142609|142611|177987|194294|205171|252356|254632|254633|254634|264695|265976|268054|270098|300152|300154|300156|300157|300161|300164|300166|300167|300169|300173|302873|302878|302879|302880|302885|302916|302918|302926|302934|302935|302948|302949|302951|302953|302954|302960|302962|302963|307343|307353|307354|307355|307361|307363|307369|307552|307564|307565|307570|307575|307578|307579|307586|318026|318030|318034|318036|318037|323448|323451|323456|323458|323459|323460|323461|323472|323473|325932|325933|332162|332164|332165|332166|332169|333147|333149|333151|333153|333160|333162|333163|333663|339985|339987|339991|339993|339996|339999|341371|341373|341378|341381|341382|341384|341387|372463|373168|413340|489877|513938|585498|612436|622998|623998|699595|726328|800576|800577|800578|800597|818312|831963|870170|870171|870172|870173|870174|870175|870176|870177|870178|872268|874211|874212|874213|874214|874215|874216|874217|874218|874219|874220|874221|874222|874223|874224|876583|876584|876585|896283|896284|896285|896286|896287|896288|896289|896290|896291|896292|896293|896294|896295|896296|896297|896298|896299|896300|896301|896302|896303|896304|918798|919029|919030|919456", + "upstreamId": "23042|23044|23045|28052|28059|28084|28136|98753|98754|104543|104548|104554|104561|104573|104592|104611|142607|142608|142609|142611|177987|194294|205171|252356|254632|254633|254634|264695|265976|268054|270098|300152|300154|300156|300157|300161|300164|300166|300167|300169|300173|302873|302878|302879|302880|302885|302916|302918|302926|302934|302935|302948|302949|302951|302953|302954|302960|302962|302963|307343|307353|307354|307355|307361|307363|307369|307552|307564|307565|307570|307575|307578|307579|307586|318026|318030|318034|318036|318037|323448|323451|323456|323458|323459|323460|323461|323472|323473|325932|325933|332162|332164|332165|332166|332169|333147|333149|333151|333153|333160|333162|333163|333663|339985|339987|339991|339993|339996|339999|341371|341373|341378|341381|341382|341384|341387|372463|373168|413340|489877|513938|585498|612436|622998|623998|699595|726328|800576|800577|800578|800597|818312|831963|870170|870171|870172|870173|870174|870175|870176|870177|870178|872268|874211|874212|874213|874214|874215|874216|874217|874218|874219|874220|874221|874222|874223|874224|876583|876584|876585|896283|896284|896285|896286|896287|896288|896289|896290|896291|896292|896293|896294|896295|896296|896297|896298|896299|896300|896301|896302|896303|896304|918798|919029|919030|919456", "text": "Pigmentary retinal dystrophy" }, { - "baseId": "23050|23051|23052|23053|23054|23055|23056|94358|176002|176003|176005|176010|176145|176146|176147|176150|176152|176153|199803|230624|230625|230627|230628|230629|324640|324641|324644|324647|324648|324650|324651|324653|324655|324656|324659|324660|324661|324665|324666|324677|324679|324712|324715|324747|324750|324751|334180|334182|334184|334187|334190|334194|334196|334197|334202|334203|334207|334209|334215|334217|334226|334237|334240|334244|334245|334286|334287|334289|334292|334293|334294|334341|334342|334346|340870|340871|340873|340874|340875|340882|340883|340886|340890|340896|340897|340901|340903|340905|340906|340909|340911|340912|340929|340930|340933|340934|340937|340938|340941|340945|340974|342285|342290|342291|342295|342300|342303|342306|342321|342323|342328|342335|342339|342341|342342|342344|342347|342355|342390|342393|342394|342396|342398|342400|342405|342411|342453|342464|342467|439886|442562|497075|497474|497691|513355|588018|610685|623382|623383|623384|623385|654797|677037|677057|682734|714808|726505|755018|800405|804865|804866|804867|804884|858572|874851|874852|874853|874854|874855|874856|874857|874858|874859|874860|874861|874862|874863|874864|874865|874866|874867|874868|874869|874870|874871|874872|874873|874874|874875|874876|874877|874878|874879|874880|874881|874882|874883|874884|874885|874886|874887|874888|874889|874890|874891|874892|874893|874894|874895|874896|874897|874898|874899|874900|874901|874902|874903|874904|874908|874909|874910|874912|874927|874928|874929|874930|874931|874932|874933|874934|874935|876638|876639|876640|876641|876642|903609|921218|921219|921220|921223|961017|962172|962173|962174|962175|965231|965928|966782|969612|973040|975949|975950|980956|983798", + "upstreamId": "23050|23051|23052|23053|23054|23055|23056|94358|176002|176003|176005|176010|176145|176146|176147|176150|176152|176153|199803|230624|230625|230627|230628|230629|324640|324641|324644|324647|324648|324650|324651|324653|324655|324656|324659|324660|324661|324665|324666|324677|324679|324712|324715|324747|324750|324751|334180|334182|334184|334187|334190|334194|334196|334197|334202|334203|334207|334209|334215|334217|334226|334237|334240|334244|334245|334286|334287|334289|334292|334293|334294|334341|334342|334346|340870|340871|340873|340874|340875|340882|340883|340886|340890|340896|340897|340901|340903|340905|340906|340909|340911|340912|340929|340930|340933|340934|340937|340938|340941|340945|340974|342285|342290|342291|342295|342300|342303|342306|342321|342323|342328|342335|342339|342341|342342|342344|342347|342355|342390|342393|342394|342396|342398|342400|342405|342411|342453|342464|342467|439886|442562|497075|497474|497691|513355|588018|610685|623382|623383|623384|623385|654797|677037|677057|682734|714808|726505|755018|800405|804865|804866|804867|804884|858572|874851|874852|874853|874854|874855|874856|874857|874858|874859|874860|874861|874862|874863|874864|874865|874866|874867|874868|874869|874870|874871|874872|874873|874874|874875|874876|874877|874878|874879|874880|874881|874882|874883|874884|874885|874886|874887|874888|874889|874890|874891|874892|874893|874894|874895|874896|874897|874898|874899|874900|874901|874902|874903|874904|874908|874909|874910|874912|874927|874928|874929|874930|874931|874932|874933|874934|874935|876638|876639|876640|876641|876642|903609|921218|921219|921220|921223|961017|962172|962173|962174|962175|965231|965928|966782|969612|973040|975949|975950|980956|983798", "text": "Surfactant metabolism dysfunction, pulmonary, 3" }, { - "baseId": "23057|23058|207093|207094|207095|207095|209349|251310|291890|291891|291896|291898|291902|291906|293293|293297|293299|293300|293301|293306|296572|296582|296591|296595|296611|296612|296615|296621|296622|380212|380212|380213|452829|539993|539993|631856|631857|631858|631859|691490|691491|790429|790430|828651|828652|889845|889846|889847|889848|889849|889850|889851|889852|889853|889854|889855|889856|889857|889858|889859|889860|889861|891725|891726|891727|943736", + "upstreamId": "23057|23058|207093|207094|207095|207095|209349|251310|291890|291891|291896|291898|291902|291906|293293|293297|293299|293300|293301|293306|296572|296582|296591|296595|296611|296612|296615|296621|296622|380212|380212|380213|452829|539993|539993|631856|631857|631858|631859|691490|691491|790429|790430|828651|828652|889845|889846|889847|889848|889849|889850|889851|889852|889853|889854|889855|889856|889857|889858|889859|889860|889861|891725|891726|891727|943736", "text": "Deficiency of 3-hydroxyacyl-CoA dehydrogenase" }, { - "baseId": "23059|23060|48081|48082|48083|207093|207094|207095|207095|251310|291891|291896|291898|291902|293293|293297|293299|293301|293306|296572|296591|296595|296611|296612|296615|296621|296622|380212|380212|539993|539993|631858|889845|889846|889847|889848|889849|889850|889851|889852|889853|889854|889855|889856|889857|889858|889859|889860|889861|891725|891726|891727", + "upstreamId": "23059|23060|48081|48082|48083|207093|207094|207095|207095|251310|291891|291896|291898|291902|293293|293297|293299|293301|293306|296572|296591|296595|296611|296612|296615|296621|296622|380212|380212|539993|539993|631858|889845|889846|889847|889848|889849|889850|889851|889852|889853|889854|889855|889856|889857|889858|889859|889860|889861|891725|891726|891727", "text": "Hyperinsulinemic hypoglycemia, familial, 4" }, { - "baseId": "23061|23062", + "upstreamId": "23061|23062", "text": "Malignant rhabdoid tumor, somatic" }, { - "baseId": "23063|23064|23069|131900|138996|195650|243638|243639|243651|243652|337610|337611|337626|347199|347201|347202|351195|351197|351200|351201|351204|352216|352217|352219|379825|403784|403820|403825|403839|404300|404323|404331|469839|469843|469939|469954|469958|469960|469961|469974|469984|470849|470916|471303|471397|471803|534031|534083|534095|534169|534170|534182|534195|534615|571721|571724|571725|571744|571748|573289|573290|573292|573294|573966|573969|573971|575217|575218|683150|890931|890932|890933|890934|890935|890936|890937|890938|890939|891811", + "upstreamId": "23063|23064|23069|131900|138996|195650|243638|243639|243651|243652|337610|337611|337626|347199|347201|347202|351195|351197|351200|351201|351204|352216|352217|352219|379825|403784|403820|403825|403839|404300|404323|404331|469839|469843|469939|469954|469958|469960|469961|469974|469984|470849|470916|471303|471397|471803|534031|534083|534095|534169|534170|534182|534195|534615|571721|571724|571725|571744|571748|573289|573290|573292|573294|573966|573969|573971|575217|575218|683150|890931|890932|890933|890934|890935|890936|890937|890938|890939|891811", "text": "Rhabdoid tumor predisposition syndrome 1" }, { - "baseId": "23066", + "upstreamId": "23066", "text": "Schwannomatosis 1, somatic" }, { - "baseId": "23071|23072|23073|23074|23075|23076|23077|165691|236909|332860|332863|332864|332868|332869|332872|332886|332888|332889|332892|343055|343059|343064|343071|343072|343074|343076|348401|348402|348404|348405|348411|348413|348415|348416|348418|348419|349560|349563|349564|349565|349569|349570|349573|413501|469489|469490|469492|469928|470532|470534|512878|532761|532765|532784|532853|532855|532857|533216|533218|533224|570604|570608|570609|572287|572289|572978|572982|572983|572988|572990|572992|574911|574916|574917|647820|647821|647822|647823|647824|647825|647826|647827|647828|647829|647830|647831|647832|647833|647834|647835|647836|647837|647838|647839|647840|647841|647842|653610|704854|716291|716293|716294|728036|741712|741713|741714|741715|741717|741718|745385|791916|821244|847436|847437|847438|847439|847440|847441|847442|847443|847444|847445|851803|851805|852322|852966|880161|880162|880163|880164|880165|880166|880167|880168|880169|880170|880171|880172|880173|880174|880175|880176|880177|880178|880179|880180|880181|880182|880721|928896|928897|928898|928899|938616|938617|938618|938619|938620|940477|941227|941228|941229|950714|950715|950716|950717|950718|950719|950720|958572|958573|958574|958575|958576|958577", + "upstreamId": "23071|23072|23073|23074|23075|23076|23077|165691|236909|332860|332863|332864|332868|332869|332872|332886|332888|332889|332892|343055|343059|343064|343071|343072|343074|343076|348401|348402|348404|348405|348411|348413|348415|348416|348418|348419|349560|349563|349564|349565|349569|349570|349573|413501|469489|469490|469492|469928|470532|470534|512878|532761|532765|532784|532853|532855|532857|533216|533218|533224|570604|570608|570609|572287|572289|572978|572982|572983|572988|572990|572992|574911|574916|574917|647820|647821|647822|647823|647824|647825|647826|647827|647828|647829|647830|647831|647832|647833|647834|647835|647836|647837|647838|647839|647840|647841|647842|653610|704854|716291|716293|716294|728036|741712|741713|741714|741715|741717|741718|745385|791916|821244|847436|847437|847438|847439|847440|847441|847442|847443|847444|847445|851803|851805|852322|852966|880161|880162|880163|880164|880165|880166|880167|880168|880169|880170|880171|880172|880173|880174|880175|880176|880177|880178|880179|880180|880181|880182|880721|928896|928897|928898|928899|938616|938617|938618|938619|938620|940477|941227|941228|941229|950714|950715|950716|950717|950718|950719|950720|958572|958573|958574|958575|958576|958577", "text": "Immunodeficiency 30" }, { - "baseId": "23078|23079|23080|23081|23082|23083|34210|34211|34212|34213|300562|300569|300572|300577|300586|303402|303421|303428|303454|303517|308010|308011|308016|308094|308097|353795|360879|590168|590459", + "upstreamId": "23078|23079|23080|23081|23082|23083|34210|34211|34212|34213|300562|300569|300572|300577|300586|303402|303421|303428|303454|303517|308010|308011|308016|308094|308097|353795|360879|590168|590459", "text": "Char syndrome" }, { - "baseId": "23085|33384|33386|33387|33388|33389|33392|33394|33396|33397|33398|33399|33401|134200|134201|134202|134203|187128|194325|196197|207598|207599|244115|244116|256400|256405|266273|268552|329773|329776|329779|329781|329782|329784|340069|340071|340073|340075|340079|340083|345775|345776|345778|345779|345783|345788|346460|347169|347170|347173|347175|347178|347179|347186|468837|469078|481350|513646|532150|572244|574612|589390|612320|620605|694200|694201|741011|801686|801687|801691|878369|878370|878371|878372|878373|878374|878375|878376|878377|878378|878379|878380|878381|878382|878383|878384|880575|880576", + "upstreamId": "23085|33384|33386|33387|33388|33389|33392|33394|33396|33397|33398|33399|33401|134200|134201|134202|134203|187128|194325|196197|207598|207599|244115|244116|256400|256405|266273|268552|329773|329776|329779|329781|329782|329784|340069|340071|340073|340075|340079|340083|345775|345776|345778|345779|345783|345788|346460|347169|347170|347173|347175|347178|347179|347186|468837|469078|481350|513646|532150|572244|574612|589390|612320|620605|694200|694201|741011|801686|801687|801691|878369|878370|878371|878372|878373|878374|878375|878376|878377|878378|878379|878380|878381|878382|878383|878384|880575|880576", "text": "Congenital myasthenic syndrome 4C" }, { - "baseId": "23085|23085|23086|23087|23088|23089|23090|23090|23091|23092|23093|23094|23094|23095|23095|23096|135535|135536|135537|135538|188076|236991|236991|254190|254191|254191|254193|254194|254194|254196|254196|254197|254199|254199|259249|269662|272237|272237|314298|314302|314302|314303|314304|314310|314311|320894|320895|326952|326961|326961|326964|326964|326966|326966|326967|326967|326969|327989|327990|327992|327993|328006|328006|328008|328008|328017|328017|429242|441429|461171|461173|461192|461192|461196|461377|461384|461384|461702|461704|461705|462027|462028|503668|525851|526258|526259|526260|526291|526292|526294|526479|538423|546445|564725|564727|564728|564734|564737|565864|567327|567332|570703|620404|640135|640136|640137|640138|640139|640140|640141|640142|640143|640144|640145|640146|640147|640148|640149|677435|677436|677436|693055|693056|693057|693058|701788|701788|738012|738013|738014|738015|738016|738017|752698|768481|784019|784022|784023|791143|820380|820381|838547|838548|838549|838550|838551|838552|838553|838554|838555|851439|868105|868106|868107|868108|868109|868110|868111|868112|868659|868660|868660|926266|926267|926268|926269|935592|941000|947496|947497|947498|956525|956526|956527|956528|956529|956530", + "upstreamId": "23085|23085|23086|23087|23088|23089|23090|23090|23091|23092|23093|23094|23094|23095|23095|23096|135535|135536|135537|135538|188076|236991|236991|254190|254191|254191|254193|254194|254194|254196|254196|254197|254199|254199|259249|269662|272237|272237|314298|314302|314302|314303|314304|314310|314311|320894|320895|326952|326961|326961|326964|326964|326966|326966|326967|326967|326969|327989|327990|327992|327993|328006|328006|328008|328008|328017|328017|429242|441429|461171|461173|461192|461192|461196|461377|461384|461384|461702|461704|461705|462027|462028|503668|525851|526258|526259|526260|526291|526292|526294|526479|538423|546445|564725|564727|564728|564734|564737|565864|567327|567332|570703|620404|640135|640136|640137|640138|640139|640140|640141|640142|640143|640144|640145|640146|640147|640148|640149|677435|677436|677436|693055|693056|693057|693058|701788|701788|738012|738013|738014|738015|738016|738017|752698|768481|784019|784022|784023|791143|820380|820381|838547|838548|838549|838550|838551|838552|838553|838554|838555|851439|868105|868106|868107|868108|868109|868110|868111|868112|868659|868660|868660|926266|926267|926268|926269|935592|941000|947496|947497|947498|956525|956526|956527|956528|956529|956530", "text": "Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency" }, { - "baseId": "23096|23097|23098", + "upstreamId": "23096|23097|23098", "text": "Fetal akinesia deformation sequence 2" }, { - "baseId": "23099|44208|48633|48778|247414", + "upstreamId": "23099|44208|48633|48778|247414", "text": "Schinzel phocomelia syndrome" }, { - "baseId": "23100", + "upstreamId": "23100", "text": "Fuhrmann syndrome" }, { - "baseId": "23109", + "upstreamId": "23109", "text": "Pancreatitis, chronic, protection against" }, { - "baseId": "23110|207396|215332|512819|512820|512905|919019|919020", + "upstreamId": "23110|207396|215332|512819|512820|512905|919019|919020", "text": "Spinocerebellar ataxia type 1" }, { - "baseId": "23111", + "upstreamId": "23111", "text": "Malattia leventinese" }, { - "baseId": "23111|99387|104603|177692|189104|191177|250749|268069|286823|286824|286827|286833|286834|286838|286839|286840|286844|286848|286853|286860|286861|286871|287571|287574|287576|287578|287584|287585|287594|287595|287598|287606|287616|287618|289961|289962|289965|289966|289970|289978|289979|289980|289983|289985|289990|289992|290381|290391|290392|290399|290401|290402|826845|885225|885226|885227|885228|885229|885230|885231|885232|885233", + "upstreamId": "23111|99387|104603|177692|189104|191177|250749|268069|286823|286824|286827|286833|286834|286838|286839|286840|286844|286848|286853|286860|286861|286871|287571|287574|287576|287578|287584|287585|287594|287595|287598|287606|287616|287618|289961|289962|289965|289966|289970|289978|289979|289980|289983|289985|289990|289992|290381|290391|290392|290399|290401|290402|826845|885225|885226|885227|885228|885229|885230|885231|885232|885233", "text": "Doyne honeycomb retinal dystrophy" }, { - "baseId": "23112|23113|23114|23116|23117|23118|23120|23121|34027|34028|34029|34032|34033|34034|51341|51342|169332|169333|169334|169335|169336|169337|169338|169339|169340|169341|169342|169343|169344|169345|169346|169347|169348|169349|169351|169352|169353|169354|169355|169356|169357|169358|169360|169361|169362|169363|169364|169365|169366|169367|169368|169369|169370|169372|169373|169374|169375|169376|169377|169378|169379|169380|169381|169383|169384|169385|169386|169387|169388|169389|169390|169391|169392|169393|169394|169395|169396|169397|169398|169399|198639|205783|208372|208373|208374|208375|208377|208378|208379|208380|208381|208382|208383|208384|208385|208386|208387|208388|208389|374902|422153|429954|429955|429958|429959|486766|486767|536018|550371|552200|800675|919715|919716|920368|971073|971074", + "upstreamId": "23112|23113|23114|23116|23117|23118|23120|23121|34027|34028|34029|34032|34033|34034|51341|51342|169332|169333|169334|169335|169336|169337|169338|169339|169340|169341|169342|169343|169344|169345|169346|169347|169348|169349|169351|169352|169353|169354|169355|169356|169357|169358|169360|169361|169362|169363|169364|169365|169366|169367|169368|169369|169370|169372|169373|169374|169375|169376|169377|169378|169379|169380|169381|169383|169384|169385|169386|169387|169388|169389|169390|169391|169392|169393|169394|169395|169396|169397|169398|169399|198639|205783|208372|208373|208374|208375|208377|208378|208379|208380|208381|208382|208383|208384|208385|208386|208387|208388|208389|374902|422153|429954|429955|429958|429959|486766|486767|536018|550371|552200|800675|919715|919716|920368|971073|971074", "text": "Lissencephaly due to LIS1 mutation" }, { - "baseId": "23115|23119|23120", + "upstreamId": "23115|23119|23120", "text": "Subcortical band heterotopia" }, { - "baseId": "23122|23123|23124|23125|23126|23127|23131|23132|39153|177947|177947|181382|193745|195045|195045|223009|251311|251311|267620|267620|292026|292033|293465|296770|296774|296776|296778|296779|296782|296783|296786|362187|362188|362189|362190|362191|362192|362193|362194|362211|453264|453604|453633|550314|631860|631861|631862|651151|683185|819438|828670|828671|828672|889930|889931|889932|889933|889934|889935|889936|889937|889938|889939|889940|889941|889942|889943|889944|889945|889946|889947|889948|889949|889950|889951|889952|889953|889954|889955|889956|889957|889958|889959|889960|889961|889962|889963|889964|889965|889966|889967|889968|889969|889970|891736|891737|923382|932116", + "upstreamId": "23122|23123|23124|23125|23126|23127|23131|23132|39153|177947|177947|181382|193745|195045|195045|223009|251311|251311|267620|267620|292026|292033|293465|296770|296774|296776|296778|296779|296782|296783|296786|362187|362188|362189|362190|362191|362192|362193|362194|362211|453264|453604|453633|550314|631860|631861|631862|651151|683185|819438|828670|828671|828672|889930|889931|889932|889933|889934|889935|889936|889937|889938|889939|889940|889941|889942|889943|889944|889945|889946|889947|889948|889949|889950|889951|889952|889953|889954|889955|889956|889957|889958|889959|889960|889961|889962|889963|889964|889965|889966|889967|889968|889969|889970|891736|891737|923382|932116", "text": "Axenfeld-Rieger syndrome type 1" }, { - "baseId": "23128|23129|177947|193745|195045|195045|251311|267620|292026|292032|292033|293465|296771|296774|296776|296778|296779|296783|453264|453604|453633|550314|631860|631861|631862|651151|819438|828670|828671|828672|889930|889931|889932|889933|889934|889935|889936|889937|889938|889939|889940|889941|889942|889943|889944|889945|889946|889947|889948|889949|889950|889951|889952|889953|889954|889955|889956|889957|889958|889959|889960|889961|889962|889963|889964|889965|889966|889967|889968|889969|889970|891736|891737|923382|932116|976009", + "upstreamId": "23128|23129|177947|193745|195045|195045|251311|267620|292026|292032|292033|293465|296771|296774|296776|296778|296779|296783|453264|453604|453633|550314|631860|631861|631862|651151|819438|828670|828671|828672|889930|889931|889932|889933|889934|889935|889936|889937|889938|889939|889940|889941|889942|889943|889944|889945|889946|889947|889948|889949|889950|889951|889952|889953|889954|889955|889956|889957|889958|889959|889960|889961|889962|889963|889964|889965|889966|889967|889968|889969|889970|891736|891737|923382|932116|976009", "text": "Anterior segment dysgenesis 4" }, { - "baseId": "23130", + "upstreamId": "23130", "text": "ANTERIOR SEGMENT DYSGENESIS 4, PETERS ANOMALY SUBTYPE" }, { - "baseId": "23133|177947|181382|193745|195045|251311|267620|292026|292032|292033|293465|296770|296771|296774|296776|296778|296779|296782|296783|296786|550314|889930|889931|889932|889933|889934|889935|889936|889937|889938|889939|889940|889941|889942|889943|889944|889945|889946|889947|889948|889949|889950|889951|889952|889953|889954|889955|889956|889957|889958|889959|889960|889961|889962|889963|889964|889965|889966|889967|889968|889969|889970|891736|891737", + "upstreamId": "23133|177947|181382|193745|195045|251311|267620|292026|292032|292033|293465|296770|296771|296774|296776|296778|296779|296782|296783|296786|550314|889930|889931|889932|889933|889934|889935|889936|889937|889938|889939|889940|889941|889942|889943|889944|889945|889946|889947|889948|889949|889950|889951|889952|889953|889954|889955|889956|889957|889958|889959|889960|889961|889962|889963|889964|889965|889966|889967|889968|889969|889970|891736|891737", "text": "Ring dermoid of cornea" }, { - "baseId": "23134|23135|23136|23137|23139|23140|23141|23142|23143|23144|23145|23146|45360|171274|186696|186697|186698|190499|193593|193594|193595|270520|271138|271752|272474|297136|297140|299071|299077|299078|299079|299084|303311|303312|303456|303457|303459|303460|303477|357412|357413|357414|357415|357416|357417|411512|543400|543402|543405|543680|543682|543684|543687|543692|543743|543744|543851|543852|543858|620782|735033|735034|735035|749439|759395|765044|765047|880753|894006|894007|894008|894009|894010|894011|894012|978160|978161|978162|978163", + "upstreamId": "23134|23135|23136|23137|23139|23140|23141|23142|23143|23144|23145|23146|45360|171274|186696|186697|186698|190499|193593|193594|193595|270520|271138|271752|272474|297136|297140|299071|299077|299078|299079|299084|303311|303312|303456|303457|303459|303460|303477|357412|357413|357414|357415|357416|357417|411512|543400|543402|543405|543680|543682|543684|543687|543692|543743|543744|543851|543852|543858|620782|735033|735034|735035|749439|759395|765044|765047|880753|894006|894007|894008|894009|894010|894011|894012|978160|978161|978162|978163", "text": "Pituitary hormone deficiency, combined 2" }, { - "baseId": "23137|45355|45360|45362|45363|190536|264501|264513|307574|317872|655931|700889|723452|737004|751543|751546|767274|767277|775535|783348|783349|783350|901515", + "upstreamId": "23137|45355|45360|45362|45363|190536|264501|264513|307574|317872|655931|700889|723452|737004|751543|751546|767274|767277|775535|783348|783349|783350|901515", "text": "Pituitary hormone deficiency, combined" }, { - "baseId": "23147|23147|23148|23149|198651|198653|247436|251872|251873|251874|251875|251876|251877|251878|297248|297251|297252|297253|297254|297255|297258|297268|297271|297272|297273|297284|297289|299232|299241|299249|299252|299253|299254|299262|299267|299269|299303|303455|303458|303461|303472|303473|303667|303668|303669|303673|303676|303679|440880|440881|455009|455013|455485|455488|521095|521355|560408|563088|633839|633842|633843|691838|830771|830772|894059|894060|894061|894062|894063|894064|894065|894066|894067|894068|894069|894070|894071|894072|894073|894074|894075|894076|894077|894078|894079|894080|894081|896087|896088", + "upstreamId": "23147|23147|23148|23149|198651|198653|247436|251872|251873|251874|251875|251876|251877|251878|297248|297251|297252|297253|297254|297255|297258|297268|297271|297272|297273|297284|297289|299232|299241|299249|299252|299253|299254|299262|299267|299269|299303|303455|303458|303461|303472|303473|303667|303668|303669|303673|303676|303679|440880|440881|455009|455013|455485|455488|521095|521355|560408|563088|633839|633842|633843|691838|830771|830772|894059|894060|894061|894062|894063|894064|894065|894066|894067|894068|894069|894070|894071|894072|894073|894074|894075|894076|894077|894078|894079|894080|894081|896087|896088", "text": "Paget disease of bone 3" }, { - "baseId": "23147|23147|198652|198654|247436|964252|964254", + "upstreamId": "23147|23147|198652|198654|247436|964252|964254", "text": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 3" }, { - "baseId": "23147", + "upstreamId": "23147", "text": "Spastic paraplegia-Paget disease of bone syndrome" }, { - "baseId": "23147|23149|40108|181180|181181|198653|198654|247436|251872|251874|251876|251877|251878|260472|297254|297255|299249|303455|308075|308076|308078|308079|308104|312434|312437|312449|312464|312466|312470|312471|312472|318222|318223|318224|318227|318229|318239|318250|318251|318258|318312|318318|318327|318331|318747|318759|318761|318764|318767|318774|318781|318790|368605|368616|406734|440879|440880|440881|454867|454870|454871|454874|455001|455004|455006|455009|455013|455014|455474|455485|455486|455488|455490|455492|455723|495500|521095|521353|521355|521466|521476|521644|521649|560406|560408|560410|563086|563088|576805|633830|633831|633832|633833|633834|633835|633836|633837|633838|633839|633840|633841|633842|633843|633844|633845|633846|633847|651328|691836|691837|691838|691839|691840|699040|699043|699044|709848|721414|721415|744221|749450|765071|777447|777539|777547|782265|819585|830757|830758|830759|830760|830761|830762|830763|830764|830765|830766|830767|830768|830769|830770|830771|830772|851907|894062|901850|901851|901852|901853|901854|901855|901856|901857|901858|901859|901860|901861|901862|901863|901864|901865|901866|901867|901868|901869|901870|901871|901872|901873|901874|901875|901876|901877|901878|901879|901880|903384|924020|924021|924022|924023|924024|924025|924026|944580|944581|944582|944583|944584|954148|954149|954150|959763", + "upstreamId": "23147|23149|40108|181180|181181|198653|198654|247436|251872|251874|251876|251877|251878|260472|297254|297255|299249|303455|308075|308076|308078|308079|308104|312434|312437|312449|312464|312466|312470|312471|312472|318222|318223|318224|318227|318229|318239|318250|318251|318258|318312|318318|318327|318331|318747|318759|318761|318764|318767|318774|318781|318790|368605|368616|406734|440879|440880|440881|454867|454870|454871|454874|455001|455004|455006|455009|455013|455014|455474|455485|455486|455488|455490|455492|455723|495500|521095|521353|521355|521466|521476|521644|521649|560406|560408|560410|563086|563088|576805|633830|633831|633832|633833|633834|633835|633836|633837|633838|633839|633840|633841|633842|633843|633844|633845|633846|633847|651328|691836|691837|691838|691839|691840|699040|699043|699044|709848|721414|721415|744221|749450|765071|777447|777539|777547|782265|819585|830757|830758|830759|830760|830761|830762|830763|830764|830765|830766|830767|830768|830769|830770|830771|830772|851907|894062|901850|901851|901852|901853|901854|901855|901856|901857|901858|901859|901860|901861|901862|901863|901864|901865|901866|901867|901868|901869|901870|901871|901872|901873|901874|901875|901876|901877|901878|901879|901880|903384|924020|924021|924022|924023|924024|924025|924026|944580|944581|944582|944583|944584|954148|954149|954150|959763", "text": "Amyotrophic lateral sclerosis and/or frontotemporal dementia 1" }, { - "baseId": "23150|271706|815862", + "upstreamId": "23150|271706|815862", "text": "Frontonasal dysplasia 3" }, { - "baseId": "23151", + "upstreamId": "23151", "text": "Asthma-related traits, susceptibility to, 7" }, { - "baseId": "23153", + "upstreamId": "23153", "text": "Amyotrophic lateral sclerosis 13" }, { - "baseId": "23154|23155|318792|318794|318802|318810|327161|327170|327172|327177|327180|327181|327182|333285|333287|333291|333297|333304|333306|333307|333308|333313|335002|335013|335016|335017|335024|335038|335049|335050|335054|335055|441569|482339|550774|713807|861577|870628|870629|870630|870631|870632|870633|870634|870635|870636|870637|870638|870639|870640|870641|919477|919478|964913", + "upstreamId": "23154|23155|318792|318794|318802|318810|327161|327170|327172|327177|327180|327181|327182|333285|333287|333291|333297|333304|333306|333307|333308|333313|335002|335013|335016|335017|335024|335038|335049|335050|335054|335055|441569|482339|550774|713807|861577|870628|870629|870630|870631|870632|870633|870634|870635|870636|870637|870638|870639|870640|870641|919477|919478|964913", "text": "Spinocerebellar ataxia type 27" }, { - "baseId": "23158|23159|23160|23161|23162|23163|98685|98687|98689|98690|98691|98692|98693|98694|98695|98696|98698|177104|190241|190969|191328|195870|195870|195870|214063|214065|226048|226049|237362|252357|252358|252359|252360|252362|269776|272293|274317|300179|300182|300186|300189|300197|300199|300199|300203|302969|302972|307370|307373|307376|307590|307592|307593|307594|307602|307602|490533|491040|493841|494209|535310|543630|543632|543634|543634|543636|543641|543641|543648|543652|543654|543654|543656|543658|543661|543664|543665|543951|543955|543957|543958|543959|543960|543962|543964|543980|543982|543984|544076|544081|544083|544089|544091|544092|544093|544098|544100|544108|544114|544118|544120|544123|586251|587246|610615|620229|620230|765689|782548|790631|896305|896306|896307|896308|896309|896310|896311|896312|896313|896314|896315|896316|896317|896318|896319|900229|900230|906150|906150|919031|919032|961774|962189", + "upstreamId": "23158|23159|23160|23161|23162|23163|98685|98687|98689|98690|98691|98692|98693|98694|98695|98696|98698|177104|190241|190969|191328|195870|195870|195870|214063|214065|226048|226049|237362|252357|252358|252359|252360|252362|269776|272293|274317|300179|300182|300186|300189|300197|300199|300199|300203|302969|302972|307370|307373|307376|307590|307592|307593|307594|307602|307602|490533|491040|493841|494209|535310|543630|543632|543634|543634|543636|543641|543641|543648|543652|543654|543654|543656|543658|543661|543664|543665|543951|543955|543957|543958|543959|543960|543962|543964|543980|543982|543984|544076|544081|544083|544089|544091|544092|544093|544098|544100|544108|544114|544118|544120|544123|586251|587246|610615|620229|620230|765689|782548|790631|896305|896306|896307|896308|896309|896310|896311|896312|896313|896314|896315|896316|896317|896318|896319|900229|900230|906150|906150|919031|919032|961774|962189", "text": "Peroxisome biogenesis disorder 4a (zellweger)" }, { - "baseId": "23164|23165|39151|191328|191328|195870|195870|214063|214063|214065|226048|226049|252358|272293|300199|307602|485898|487200|490137|490533|535310|543630|543632|543634|543636|543641|543648|543652|543654|543656|543658|543661|543664|543665|543951|543955|543957|543958|543959|543960|543962|543964|543980|543982|543984|544076|544081|544083|544089|544091|544092|544093|544098|544100|544108|544114|544118|544120|544123|906150|961774", + "upstreamId": "23164|23165|39151|191328|191328|195870|195870|214063|214063|214065|226048|226049|252358|272293|300199|307602|485898|487200|490137|490533|535310|543630|543632|543634|543636|543641|543648|543652|543654|543656|543658|543661|543664|543665|543951|543955|543957|543958|543959|543960|543962|543964|543980|543982|543984|544076|544081|544083|544089|544091|544092|544093|544098|544100|544108|544114|544118|544120|544123|906150|961774", "text": "Peroxisome biogenesis disorder 4B" }, { - "baseId": "23166|23167|23168|324541|324550|324553|324558|324559|324568|334066|334073|334079|334085|334086|334091|334093|334095|334110|334111|334114|334119|334125|334126|334128|334129|334136|334137|334138|340798|340801|340804|340806|340809|340811|340812|340816|340817|340818|340819|340820|340822|340828|340829|342197|342202|342209|342212|342213|342214|342215|342216|342219|703533|714777|726471|754964|791529|874807|874808|874809|874810|874811|874812|874813|874814|874815|874816|874817|874818|874819|874820|874821|874822|874823|874824|964443", + "upstreamId": "23166|23167|23168|324541|324550|324553|324558|324559|324568|334066|334073|334079|334085|334086|334091|334093|334095|334110|334111|334114|334119|334125|334126|334128|334129|334136|334137|334138|340798|340801|340804|340806|340809|340811|340812|340816|340817|340818|340819|340820|340822|340828|340829|342197|342202|342209|342212|342213|342214|342215|342216|342219|703533|714777|726471|754964|791529|874807|874808|874809|874810|874811|874812|874813|874814|874815|874816|874817|874818|874819|874820|874821|874822|874823|874824|964443", "text": "Acid-labile subunit deficiency" }, { - "baseId": "23170", + "upstreamId": "23170", "text": "Diabetes mellitus, noninsulin-dependent, modifier of" }, { - "baseId": "23170", + "upstreamId": "23170", "text": "Obesity, modifier of" }, { - "baseId": "23170", + "upstreamId": "23170", "text": "Body mass index, modifier of" }, { - "baseId": "23170", + "upstreamId": "23170", "text": "Intimal medial thickness of internal carotid artery, modifier of" }, { - "baseId": "23175|23176|23178|23180|23181|23182|23183|135465|288404|288413|288431|288432|289177|292190|292296|292303|292305|292306|292310|354171|428113|428114|428116|428117|428118|428120|428124|428125|887759|887767|887768|887769|887770|964214|964215|970750", + "upstreamId": "23175|23176|23178|23180|23181|23182|23183|135465|288404|288413|288431|288432|289177|292190|292296|292303|292305|292306|292310|354171|428113|428114|428116|428117|428118|428120|428124|428125|887759|887767|887768|887769|887770|964214|964215|970750", "text": "Familial partial lipodystrophy 3" }, { - "baseId": "23175|23178|23179|135465|288404|288413|288431|288432|289177|292190|292296|292303|292305|292306|292310|428113|887759|887767|887768|887769|887770", + "upstreamId": "23175|23178|23179|135465|288404|288413|288431|288432|289177|292190|292296|292303|292305|292306|292310|428113|887759|887767|887768|887769|887770", "text": "Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension" }, { - "baseId": "23175|77785|77849|172489", + "upstreamId": "23175|77785|77849|172489", "text": "Lipodystrophy (disease)" }, { - "baseId": "23177", + "upstreamId": "23177", "text": "PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA POLYMORPHISM" }, { - "baseId": "23178|28917|48019", + "upstreamId": "23178|28917|48019", "text": "Glioma susceptibility 1" }, { - "baseId": "23179|23746", + "upstreamId": "23179|23746", "text": "Diabetes mellitus, type II, digenic" }, { - "baseId": "23184", + "upstreamId": "23184", "text": "Spermatogenic failure, susceptibility to" }, { - "baseId": "23185|23186|23187|23188|23189|23190|175740|228209|228210|228211|228212", + "upstreamId": "23185|23186|23187|23188|23189|23190|175740|228209|228210|228211|228212", "text": "Deafness, autosomal dominant 48" }, { - "baseId": "23199|75129|134162|192530|254938|320449|320455|320460|329222|329224|329226|329233|329236|329237|335822|335824|335835|335844|335849|337732|337734|337752|337753|337759|374238|463731|566411|567771|572600|642350|642351|642352|652860|754026|760301|769791|788881|820619|841362|871819|871820|871821|871822|871823|871824|871825|871826|871827|871828|871829|871830|871831|871832|871833|871834|871835|927026|948534|948535|957201|960088", + "upstreamId": "23199|75129|134162|192530|254938|320449|320455|320460|329222|329224|329226|329233|329236|329237|335822|335824|335835|335844|335849|337732|337734|337752|337753|337759|374238|463731|566411|567771|572600|642350|642351|642352|652860|754026|760301|769791|788881|820619|841362|871819|871820|871821|871822|871823|871824|871825|871826|871827|871828|871829|871830|871831|871832|871833|871834|871835|927026|948534|948535|957201|960088", "text": "Nemaline myopathy 7" }, { - "baseId": "23200|23201|40611|40612|44204|44205|44290|44291|44292|44293|44294|44295|44296|44297|44298|44299|44300|54547|54551|54552|54553|54555|54556|54557|54558|54559|54560|54562|54564|54565|54566|54567|54568|54569|54570|54572|54574|54576|54577|54578|54579|54582|54583|54586|54587|54589|54590|54591|175401|175402|175403|175404|175405|175406|175545|175547|175551|175552|175705|175710|175845|175846|175850|188840|189894|189898|189903|189905|198377|198378|198380|224439|230292|230293|230294|230295|230297|230300|230301|241531|241532|241533|241534|241535|241536|241537|266600|316674|316679|316681|324150|324151|324154|324155|324156|330171|330176|330194|331585|331595|360036|372903|372917|373130|373141|374951|398885|398886|398898|398902|399039|399048|399054|399057|399058|399060|399352|399356|399359|399360|399595|399600|399603|408617|415329|444960|444961|462067|462071|462073|462320|462324|462325|462332|462333|462335|462337|462803|462807|462914|462919|482272|503771|503790|503799|504060|504334|504349|504791|504818|510360|510363|511109|527033|527035|527037|527038|527040|527042|527047|527048|527051|527055|527257|527258|527264|527269|527271|527279|527281|527286|527558|536836|538429|565384|565386|566748|567949|567951|567954|571740|571745|571751|621375|641019|641020|641021|641022|641023|641024|641025|641026|641027|641028|641029|641030|652233|652235|652316|652472|652479|652696|684317|687955|687958|693175|693176|695557|713479|738595|744844|769047|778082|784360|784363|787771|788058|796733|820485|820486|820487|839777|839778|839779|839780|839781|839782|839783|839784|839785|839786|839787|839788|839789|839790|839791|839792|839793|839794|839795|839796|839797|839798|839799|839800|839801|839802|839803|839804|839805|839806|839807|839808|839809|851939|851941|852685|869669|869670|869671|869672|869673|869674|869675|872228|926588|926589|926590|926591|926592|926593|936074|936075|936076|936077|940261|940262|947959|947960|947961|947962|947963|947964|947965|947966|947967|947968|947969|947970|947971|947972|956844|956845|956846|956847|956848|960037|960038", + "upstreamId": "23200|23201|40611|40612|44204|44205|44290|44291|44292|44293|44294|44295|44296|44297|44298|44299|44300|54547|54551|54552|54553|54555|54556|54557|54558|54559|54560|54562|54564|54565|54566|54567|54568|54569|54570|54572|54574|54576|54577|54578|54579|54582|54583|54586|54587|54589|54590|54591|175401|175402|175403|175404|175405|175406|175545|175547|175551|175552|175705|175710|175845|175846|175850|188840|189894|189898|189903|189905|198377|198378|198380|224439|230292|230293|230294|230295|230297|230300|230301|241531|241532|241533|241534|241535|241536|241537|266600|316674|316679|316681|324150|324151|324154|324155|324156|330171|330176|330194|331585|331595|360036|372903|372917|373130|373141|374951|398885|398886|398898|398902|399039|399048|399054|399057|399058|399060|399352|399356|399359|399360|399595|399600|399603|408617|415329|444960|444961|462067|462071|462073|462320|462324|462325|462332|462333|462335|462337|462803|462807|462914|462919|482272|503771|503790|503799|504060|504334|504349|504791|504818|510360|510363|511109|527033|527035|527037|527038|527040|527042|527047|527048|527051|527055|527257|527258|527264|527269|527271|527279|527281|527286|527558|536836|538429|565384|565386|566748|567949|567951|567954|571740|571745|571751|621375|641019|641020|641021|641022|641023|641024|641025|641026|641027|641028|641029|641030|652233|652235|652316|652472|652479|652696|684317|687955|687958|693175|693176|695557|713479|738595|744844|769047|778082|784360|784363|787771|788058|796733|820485|820486|820487|839777|839778|839779|839780|839781|839782|839783|839784|839785|839786|839787|839788|839789|839790|839791|839792|839793|839794|839795|839796|839797|839798|839799|839800|839801|839802|839803|839804|839805|839806|839807|839808|839809|851939|851941|852685|869669|869670|869671|869672|869673|869674|869675|872228|926588|926589|926590|926591|926592|926593|936074|936075|936076|936077|940261|940262|947959|947960|947961|947962|947963|947964|947965|947966|947967|947968|947969|947970|947971|947972|956844|956845|956846|956847|956848|960037|960038", "text": "Dilated cardiomyopathy 1O" }, { - "baseId": "23202|23203|23204|23205|23206|23207|49933|98909|98910|98911|98913|98915|177098|177902|297614|297615|297617|297622|297639|297640|297642|297643|297644|299814|299815|299816|299822|299829|299831|299833|299844|303939|303940|303946|303955|303962|303966|303977|303979|304348|304352|304353|304361|304365|304372|304373|353704|560347|619845|651322|651352|709926|709927|721466|735119|749516|775026|779318|788779|790562|816455|830866|830867|851988|894370|894371|894372|894373|894374|894375|894376|894377|894378|894379|894380|894381|894382|894383|894384|894385|894386|896111|932919|932920|944631|944632|961771|961846", + "upstreamId": "23202|23203|23204|23205|23206|23207|49933|98909|98910|98911|98913|98915|177098|177902|297614|297615|297617|297622|297639|297640|297642|297643|297644|299814|299815|299816|299822|299829|299831|299833|299844|303939|303940|303946|303955|303962|303966|303977|303979|304348|304352|304353|304361|304365|304372|304373|353704|560347|619845|651322|651352|709926|709927|721466|735119|749516|775026|779318|788779|790562|816455|830866|830867|851988|894370|894371|894372|894373|894374|894375|894376|894377|894378|894379|894380|894381|894382|894383|894384|894385|894386|896111|932919|932920|944631|944632|961771|961846", "text": "Succinyl-CoA acetoacetate transferase deficiency" }, { - "baseId": "23208|23209|215519|433648|512866", + "upstreamId": "23208|23209|215519|433648|512866", "text": "Charcot-Marie-Tooth disease, recessive intermediate B" }, { - "baseId": "23210|23211|23211|23212|23213|23215|23216|45432|45433|52526|52526|52528|57279|57280|57281|57283|57284|57285|57285|57286|57287|142802|171101|174272|174274|174277|174278|174279|174279|174280|174411|174412|174413|174414|174415|174417|174417|189785|189787|193416|193417|193417|198172|198174|198175|198177|198178|229299|269009|269538|269702|270421|271690|272645|273483|302804|394836|394838|394838|395095|395434|395435|443734|454782|454829|454841|454842|455331|455635|455642|455645|520950|520955|521391|521394|521445|521448|521449|543365|543368|543370|543379|543397|543626|543653|543668|543670|543670|543672|543673|543731|543736|543737|543741|543815|543826|543827|543843|543845|559835|560231|560233|560235|560237|560346|560348|563005|564977|585031|588537|633666|633667|633668|633669|633670|633671|633672|651316|672402|683727|686712|819568|819640|830561|830562|830563|830564|923960|923961|923962|940811|944505|954099", + "upstreamId": "23210|23211|23211|23212|23213|23215|23216|45432|45433|52526|52526|52528|57279|57280|57281|57283|57284|57285|57285|57286|57287|142802|171101|174272|174274|174277|174278|174279|174279|174280|174411|174412|174413|174414|174415|174417|174417|189785|189787|193416|193417|193417|198172|198174|198175|198177|198178|229299|269009|269538|269702|270421|271690|272645|273483|302804|394836|394838|394838|395095|395434|395435|443734|454782|454829|454841|454842|455331|455635|455642|455645|520950|520955|521391|521394|521445|521448|521449|543365|543368|543370|543379|543397|543626|543653|543668|543670|543670|543672|543673|543731|543736|543737|543741|543815|543826|543827|543843|543845|559835|560231|560233|560235|560237|560346|560348|563005|564977|585031|588537|633666|633667|633668|633669|633670|633671|633672|651316|672402|683727|686712|819568|819640|830561|830562|830563|830564|923960|923961|923962|940811|944505|954099", "text": "Autosomal recessive limb-girdle muscular dystrophy type 2F" }, { - "baseId": "23211|23214|23215|52526|57283|57285|57287|174272|174274|174277|174278|174279|174280|174411|174412|174413|174414|174415|174417|189785|189787|193417|229299|271690|394838|521445|543365|543368|543370|543379|543397|543626|543653|543668|543670|543672|543673|543731|543736|543737|543741|543815|543826|543827|543843|543845", + "upstreamId": "23211|23214|23215|52526|57283|57285|57287|174272|174274|174277|174278|174279|174280|174411|174412|174413|174414|174415|174417|189785|189787|193417|229299|271690|394838|521445|543365|543368|543370|543379|543397|543626|543653|543668|543670|543672|543673|543731|543736|543737|543741|543815|543826|543827|543843|543845", "text": "Dilated cardiomyopathy 1L" }, { - "baseId": "23215", + "upstreamId": "23215", "text": "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 6, DIGENIC" }, { - "baseId": "23217|23218|23219|28799", + "upstreamId": "23217|23218|23219|28799", "text": "Pancreatitis, chronic, susceptibility to" }, { - "baseId": "23222|39133|101330|101331|136138|304661|444257|486702|538399|550854|579538|651813|834521|851193|934228|955376|962048", + "upstreamId": "23222|39133|101330|101331|136138|304661|444257|486702|538399|550854|579538|651813|834521|851193|934228|955376|962048", "text": "Mental retardation, autosomal recessive 7" }, { - "baseId": "23223|980452", + "upstreamId": "23223|980452", "text": "West nile virus, susceptibility to" }, { - "baseId": "23223", + "upstreamId": "23223", "text": "Resistance to hepatitis C virus" }, { - "baseId": "23223|24290", + "upstreamId": "23223|24290", "text": "Multiple sclerosis modifier of disease progression" }, { - "baseId": "23224", + "upstreamId": "23224", "text": "CCR5 POLYMORPHISM, ORIENTAL 1" }, { - "baseId": "23225", + "upstreamId": "23225", "text": "CCR5 POLYMORPHISM, ORIENTAL 2" }, { - "baseId": "23226", + "upstreamId": "23226", "text": "CCR5 POLYMORPHISM, AFRICAN-AMERICAN" }, { - "baseId": "23228", + "upstreamId": "23228", "text": "Acquired immunodeficiency syndrome, delayed progression to" }, { - "baseId": "23228", + "upstreamId": "23228", "text": "CCR5 PROMOTER POLYMORPHISM" }, { - "baseId": "23229", + "upstreamId": "23229", "text": "Human immunodeficiency virus type 1, increased perinatal transmission of" }, { - "baseId": "23232|23233|101257|101259|132607|190500|194437|214379|215262|237303|265737|287287|287288|290651|290915|290920|290922|290934|366794|366797|367943|451462|451464|451699|451703|451823|451906|451910|451914|451922|451926|500353|500355|518634|518636|518638|518640|518722|518820|518821|518823|518831|558301|558680|558682|558684|559186|559187|562070|562075|562078|562087|614252|630566|630567|630568|630569|630570|630571|630572|630573|630574|630575|630576|630577|630578|630579|630580|630581|630582|630583|630584|630585|630586|630587|630588|630589|630590|630591|630592|630593|747785|763441|798513|798514|819276|827053|827054|827055|827056|827057|827058|827059|827060|827061|827062|827063|827064|827065|827066|827067|827068|827069|827070|827071|827072|827073|922932|922933|922934|922935|931598|931599|931600|931601|931602|931603|931604|931605|939915|943135|943136|943137|953236|953237|953238|953239|953240|953241|953242|953243|953244|953245|963129", + "upstreamId": "23232|23233|101257|101259|132607|190500|194437|214379|215262|237303|265737|287287|287288|290651|290915|290920|290922|290934|366794|366797|367943|451462|451464|451699|451703|451823|451906|451910|451914|451922|451926|500353|500355|518634|518636|518638|518640|518722|518820|518821|518823|518831|558301|558680|558682|558684|559186|559187|562070|562075|562078|562087|614252|630566|630567|630568|630569|630570|630571|630572|630573|630574|630575|630576|630577|630578|630579|630580|630581|630582|630583|630584|630585|630586|630587|630588|630589|630590|630591|630592|630593|747785|763441|798513|798514|819276|827053|827054|827055|827056|827057|827058|827059|827060|827061|827062|827063|827064|827065|827066|827067|827068|827069|827070|827071|827072|827073|922932|922933|922934|922935|931598|931599|931600|931601|931602|931603|931604|931605|939915|943135|943136|943137|953236|953237|953238|953239|953240|953241|953242|953243|953244|953245|963129", "text": "Congenital disorder of glycosylation type 2B" }, { - "baseId": 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"text": "Polycystic kidney disease, adult type" }, { - "baseId": "23245|247541|553486|611980|612161|612179|799086|965650", + "upstreamId": "23245|247541|553486|611980|612161|612179|799086|965650", "text": "Polycystic kidney disease 3" }, { - "baseId": 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+ "upstreamId": 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"text": "Holoprosencephaly 7" }, { - "baseId": 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"text": "Holoprosencephaly sequence" }, { - "baseId": 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"text": "Generalized juvenile polyposis/juvenile polyposis coli" }, { - "baseId": "23276|50219|133359|150736|152313|182985|360921", + "upstreamId": "23276|50219|133359|150736|152313|182985|360921", "text": "Hereditary mixed polyposis syndrome 2" }, { - "baseId": "23277", + "upstreamId": "23277", "text": "Juvenile polyposis of infancy" }, { - "baseId": 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+ "upstreamId": "23278|23278|23279|39131|75104|75105|135076|135077|135077|135078|135078|135079|135079|135080|135080|135081|135082|135083|194417|194417|194418|194418|194419|194419|196271|196271|207598|207599|215099|215100|253268|253268|253271|253271|253273|253273|253276|253276|253279|253279|253280|253280|265645|265645|270310|270310|273473|273473|306482|306485|306486|306487|306494|310665|310665|310666|310670|310670|316033|316033|316039|316042|316043|316043|316056|316056|316060|316060|316061|316061|316356|316362|316362|316370|316370|316371|316372|316372|316375|316382|316383|359884|425810|425811|425812|428892|458118|458200|458202|458724|458728|458728|458730|458731|458813|458815|458818|458820|458820|458821|458823|458823|458824|459228|459231|459231|459233|459237|459241|459247|523905|524180|524180|524182|524185|524187|524190|524190|524464|524496|524500|524505|524513|524514|524519|562680|562686|563372|565317|565322|565420|565422|568401|568408|637618|637619|637619|637620|637621|637622|637622|637623|637624|637625|637626|637627|637628|637629|637630|637631|637631|637632|637633|637634|651963|651973|651974|652084|692561|692562|692563|692563|692566|695410|695411|711692|751303|767000|767001|767004|783220|835370|835371|835372|835373|835374|835375|835376|835377|835378|835379|835380|835381|835382|835383|835383|835384|835385|835386|835386|859691|900840|900841|900842|900843|900844|900845|900846|900847|900848|900849|900849|900850|900851|900851|903295|903296|903297|925333|925334|925335|925336|934506|934507|934508|934509|946307|946308|946309|946310|946311|946312|946313|946314|955653|955654|955655", "text": "Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency" }, { - "baseId": "23281|491667|493298", + "upstreamId": "23281|491667|493298", "text": "Bile acid malabsorption, primary" }, { - "baseId": 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+ "upstreamId": "23282|23283|23285|23286|23287|23288|23289|23290|23291|23292|23293|23295|23296|139995|139996|166129|166130|171152|171153|171155|194254|210221|210222|210224|210225|210226|210227|210228|210230|210231|210232|210233|210236|210238|222253|241561|241562|241563|254610|254611|254613|254614|254615|254616|269746|317691|317693|317694|317698|317700|317701|317709|317710|317715|317721|317725|317726|317729|317733|325567|325568|325592|325593|325594|325596|325605|331815|331817|331822|331823|331824|331825|331832|331843|331845|331851|331852|331856|333260|333261|333264|333270|333281|333295|333296|333298|333299|333309|333310|333318|333323|333330|333333|333343|333344|360045|360048|398802|399002|399003|399020|399157|399166|399167|399503|399504|399510|399512|399519|399520|399768|399769|399770|399779|399781|399783|399785|399787|408712|414382|414383|414384|414393|414394|414395|414399|414401|414406|414407|414411|421939|433105|433106|433107|433109|433111|433114|433115|433347|437741|461786|462305|462317|462319|462321|462326|462572|462575|462576|462580|462583|463035|463051|463054|463059|463060|463064|463183|463186|463189|486613|504330|514646|526620|526621|526622|526625|527243|527245|527247|527250|527253|527256|527259|527268|527479|527482|527486|527496|527498|527504|527505|527781|527783|538606|565580|565582|565591|565599|565601|565603|566902|566903|566914|566915|568116|568118|571902|571903|571907|571909|576353|585337|590609|609067|609837|609840|609847|614379|641235|641236|641237|641238|641239|641240|641241|641242|641243|641244|641245|641246|641247|641248|641249|641250|641251|641252|641253|641254|641255|641256|641257|652182|652332|652385|666850|683145|684334|684335|684336|688025|688026|688027|688028|688029|713572|738703|769204|791258|799690|799691|799692|799693|799694|799695|799696|799697|799698|799699|799700|799701|799702|799703|799704|799705|799706|799707|799708|799709|799710|801134|820506|820507|840053|840054|840055|840056|840057|840058|840059|840060|840061|840062|840063|840064|840065|840066|840067|840068|840069|840070|840071|840072|840073|840074|840075|840076|840077|840078|851513|851515|851953|852485|870060|870061|870062|870063|870064|870065|870066|870067|870068|870069|870070|870071|870072|870073|870074|870075|870076|870077|870078|870079|870080|870081|870082|870083|870084|872258|919454|919455|926668|926669|926670|926671|926672|926673|926674|926675|926676|936170|936171|936172|936173|936174|936175|936176|936177|936178|940269|948084|948085|948086|948087|948088|956900|956901|960789|970614|970615|970616|970617|970618|970619|970620|970621|970622|970623|970624|970625|970626|970627|970628|970629|970630|970631|981807|981808|981809|981810|981811|981812|981813|981814|981815|981816|981817|981818|981819|981820|981821", "text": "Telangiectasia, hereditary hemorrhagic, type 2" }, { - "baseId": "23282|23288|23289|23290|23291|23292|23293|23294|210238|360048|399783|414375|414376|414377|414378|414379|414380|414381|414382|414385|414386|414387|414388|414394|414395|414397|414398|414400|414401|414402|414403|414404|414409|414410|414411|414433", + "upstreamId": "23282|23288|23289|23290|23291|23292|23293|23294|210238|360048|399783|414375|414376|414377|414378|414379|414380|414381|414382|414385|414386|414387|414388|414394|414395|414397|414398|414400|414401|414402|414403|414404|414409|414410|414411|414433", "text": "Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia" }, { - "baseId": "23291|23835|23836|23840|23841|23844|23845|23847|23849|23851|96795|199803|209585|209588|210238|210238|224249|259914|264058|392288|392462|414075|414080|414084|414090|414096|414107|414110|414113|414117|414135|414136|414158|414159|414161|414165|414170|414182|414199|414206|414209|414221|414226|414229|414233|414234|414259|414263|414267|414295|414303|414306|414328|414366|414408|445123|590074|590075|590077|590078|641249|800996|800997|800998|800999|801000|801001|801002|801003|801004|801005|801006|801007|801008|801009|801010|801011|801012|801013|801014|801015|801016|801017|801018|801019|801020|801021|801022|801023|801024|801025|801026|801027|801028|801029|801030|801031|801032|801033|801034|801035|801036|801037|801038|801039|801040|801041|801042|801043|801044|801045|801046|801047|801048|801049|801050|801051|801052|801053|801054|801055|801056|801057|801058|801059|801060|801061|801065|801111|801112|801131|801132|801133|801134|801156|801172|801173|801174|801175|801176|801177|801178|801179|801233|801234|801235|801236|801237|801238|801239|801240|801241|801242|801243|801258|801259|801260|801261|801507|801508|801509|801510|801515", + "upstreamId": 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"text": "Pulmonary arterial hypertension" }, { - "baseId": 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"text": "Epidermolysis bullosa simplex with muscular dystrophy" }, { - "baseId": 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"text": "Epidermolysis bullosa simplex, Ogna type" }, { - "baseId": 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"text": "Epidermolysis bullosa simplex with pyloric atresia" }, { - "baseId": "23307|23308|23309|101778|101779|101780|240839|253804|253805|253806|310609|315791|315795|315796|315827|315828|315829|315831|315841|315843|315844|315845|321858|321859|321864|321867|321868|321872|321873|321874|322523|322549|322551|322555|322565|322566|322578|322581|397795|460101|536045|536046|536047|563898|564709|569410|639101|639102|684194|684195|687666|687668|692886|837161|837162|837163|837164|866072|866073|866074|866075|866076|866077|866078|866079|866080|866081|866082|866083|866084|925901|974490", + "upstreamId": "23307|23308|23309|101778|101779|101780|240839|253804|253805|253806|310609|315791|315795|315796|315827|315828|315829|315831|315841|315843|315844|315845|321858|321859|321864|321867|321868|321872|321873|321874|322523|322549|322551|322555|322565|322566|322578|322581|397795|460101|536045|536046|536047|563898|564709|569410|639101|639102|684194|684195|687666|687668|692886|837161|837162|837163|837164|866072|866073|866074|866075|866076|866077|866078|866079|866080|866081|866082|866083|866084|925901|974490", "text": "Visceral heterotaxy 5, autosomal" }, { - "baseId": "23308|407891", + "upstreamId": "23308|407891", "text": "heterotaxia syndrome" }, { - "baseId": "23311|23312|23313|23314|39126|49240|49259|49263|49278|49286|49294|49297|49305|55402|264952|265075|269358|363055|424697|919868", + "upstreamId": "23311|23312|23313|23314|39126|49240|49259|49263|49278|49286|49294|49297|49305|55402|264952|265075|269358|363055|424697|919868", "text": "Cardiofaciocutaneous syndrome 4" }, { - "baseId": "23311|23312|23313|23314|27625|27625|27626|27628|27629|28389|28390|28391|29000|29003|29003|29004|29004|29008|29012|29013|29014|29014|29016|29017|29018|29019|38762|48816|48817|48818|48821|48835|48836|48839|48840|48844|48850|48853|48854|48857|48857|48859|48860|49214|49217|49249|49251|49251|49283|49283|49884|53753|53754|53755|53972|53973|53974|53977|53978|53985|53987|53988|53997|53998|99984|174042|174043|174043|174175|174176|174178|175711|175716|175855|176031|176031|179450|224864|224865|224866|230308|301998|302001|309875|310013|316688|316706|316713|316714|316716|323126|323128|324168|324186|330211|330214|330268|331617|331620|331623|331632|331661|332754|332756|359643|362823|362825|363055|653970|653971|653972|653977|653983|653984|799020|969624", + "upstreamId": "23311|23312|23313|23314|27625|27625|27626|27628|27629|28389|28390|28391|29000|29003|29003|29004|29004|29008|29012|29013|29014|29014|29016|29017|29018|29019|38762|48816|48817|48818|48821|48835|48836|48839|48840|48844|48850|48853|48854|48857|48857|48859|48860|49214|49217|49249|49251|49251|49283|49283|49884|53753|53754|53755|53972|53973|53974|53977|53978|53985|53987|53988|53997|53998|99984|174042|174043|174043|174175|174176|174178|175711|175716|175855|176031|176031|179450|224864|224865|224866|230308|301998|302001|309875|310013|316688|316706|316713|316714|316716|323126|323128|324168|324186|330211|330214|330268|331617|331620|331623|331632|331661|332754|332756|359643|362823|362825|363055|653970|653971|653972|653977|653983|653984|799020|969624", "text": "Cardio-facio-cutaneous syndrome" }, { - "baseId": "23315|23316|23317|23318|23318|23319|23320|23321|23322|23323|23324|23325|23329|40376|40390|272349|918860|961601", + "upstreamId": "23315|23316|23317|23318|23318|23319|23320|23321|23322|23323|23324|23325|23329|40376|40390|272349|918860|961601", "text": "Rippling muscle disease 2" }, { - "baseId": "23317|40366|40367|40369|40374|40376|40377|40378|40380|40399|44468|101340|135129|135130|177852|179082|195708|195709|229569|252658|265307|267980|270697|272684|273196|291730|291733|293055|293056|293071|293074|293079|295480|295481|295485|295486|295488|296327|296330|296331|296333|296349|296387|296388|296389|296390|297261|297264|297267|297276|301110|301111|301112|301113|301114|301267|301277|302296|302299|302312|302320|305526|305535|305543|305551|305553|305555|310342|310348|310446|310468|310470|310481", + "upstreamId": "23317|40366|40367|40369|40374|40376|40377|40378|40380|40399|44468|101340|135129|135130|177852|179082|195708|195709|229569|252658|265307|267980|270697|272684|273196|291730|291733|293055|293056|293071|293074|293079|295480|295481|295485|295486|295488|296327|296330|296331|296333|296349|296387|296388|296389|296390|297261|297264|297267|297276|301110|301111|301112|301113|301114|301267|301277|302296|302299|302312|302320|305526|305535|305543|305551|305553|305555|310342|310348|310446|310468|310470|310481", "text": "Limb-Girdle Muscular Dystrophy, Dominant" }, { - "baseId": "23317|23318|23327|23332|40366|40367|40369|40371|40374|40376|40377|40378|40380|40399|44468|55699|55701|102134|140362|179082|179092|291730|291733|293055|293056|293071|293074|293079|296327|296330|296331|296333|296349|296387|296388|296389|296390|367735|889740|889741|889742|889743|889744|889745|889746|889747|889748|889749|889750|889751|889752|889753", + "upstreamId": "23317|23318|23327|23332|40366|40367|40369|40371|40374|40376|40377|40378|40380|40399|44468|55699|55701|102134|140362|179082|179092|291730|291733|293055|293056|293071|293074|293079|296327|296330|296331|296333|296349|296387|296388|296389|296390|367735|889740|889741|889742|889743|889744|889745|889746|889747|889748|889749|889750|889751|889752|889753", "text": "Caveolinopathy" }, { - "baseId": "23318|23322|23328|40376|272349|961601", + "upstreamId": "23318|23322|23328|40376|272349|961601", "text": "Distal myopathy, Tateyama type" }, { - "baseId": "23318|23330|23332|23333|23334|23335|272349|625794|857645|961601", + "upstreamId": "23318|23330|23332|23333|23334|23335|272349|625794|857645|961601", "text": "Long QT syndrome 9" }, { - "baseId": "23324", + "upstreamId": "23324", "text": "Rippling muscle disease 2, autosomal recessive" }, { - "baseId": "23331", + "upstreamId": "23331", "text": "Long QT syndrome 9, acquired, susceptibility to" }, { - "baseId": "23332|29482", + "upstreamId": "23332|29482", "text": "Long QT syndrome 2/9, digenic" }, { - "baseId": "23336|23337|23338|23339|167854|167855|167856|167857|167858|167860|167861|167862|167863|167864|167865|167866|167867|167868|167869|167870|167871|167872|191039|191444|206839|250143|250147|250149|250150|250152|268256|270551|270786|272294|272612|275116|281761|281768|281777|281779|281781|281782|281784|281789|282397|282398|282400|282403|282407|282410|282411|283952|283964|283965|283967|283977|283988|283989|284009|284017|284028|284030|284039|284183|284197|284199|284200|284201|284206|284207|284217|284220|353537|365344|365351|365352|365505|365509|365531|405289|405290|448561|448638|448644|448651|448653|448669|448671|448675|448677|448678|448683|448689|448691|448766|448768|498617|498644|516300|516308|516310|516312|516318|516321|516322|516325|516334|516363|516369|516371|516402|516403|516405|557494|557496|557498|557500|557502|557543|557545|557547|558629|558709|559196|559198|609084|609085|628424|628425|628426|628427|628428|628429|628430|628431|628432|650706|650861|690732|690736|690737|695071|697003|697004|707707|762168|762170|787187|819046|824725|824726|824727|824728|824729|824730|824731|824732|824733|824734|851331|880993|880994|880995|880996|880997|880998|880999|881000|881001|881002|881003|881004|881005|881006|881007|881008|882792|882793|882794|922231|922232|922233|930791|930792|930793|939843|942219|942220|942221|942222|942223|942224|942225|942226|952625|952626|952627|952628|952629", + "upstreamId": "23336|23337|23338|23339|167854|167855|167856|167857|167858|167860|167861|167862|167863|167864|167865|167866|167867|167868|167869|167870|167871|167872|191039|191444|206839|250143|250147|250149|250150|250152|268256|270551|270786|272294|272612|275116|281761|281768|281777|281779|281781|281782|281784|281789|282397|282398|282400|282403|282407|282410|282411|283952|283964|283965|283967|283977|283988|283989|284009|284017|284028|284030|284039|284183|284197|284199|284200|284201|284206|284207|284217|284220|353537|365344|365351|365352|365505|365509|365531|405289|405290|448561|448638|448644|448651|448653|448669|448671|448675|448677|448678|448683|448689|448691|448766|448768|498617|498644|516300|516308|516310|516312|516318|516321|516322|516325|516334|516363|516369|516371|516402|516403|516405|557494|557496|557498|557500|557502|557543|557545|557547|558629|558709|559196|559198|609084|609085|628424|628425|628426|628427|628428|628429|628430|628431|628432|650706|650861|690732|690736|690737|695071|697003|697004|707707|762168|762170|787187|819046|824725|824726|824727|824728|824729|824730|824731|824732|824733|824734|851331|880993|880994|880995|880996|880997|880998|880999|881000|881001|881002|881003|881004|881005|881006|881007|881008|882792|882793|882794|922231|922232|922233|930791|930792|930793|939843|942219|942220|942221|942222|942223|942224|942225|942226|952625|952626|952627|952628|952629", "text": "Autosomal recessive centronuclear myopathy" }, { - "baseId": "23340|23341|23342|23343|23344|33917|33918|33919|33920|134576|141136|141137|141138|141139|141140|142197|177428|192184|200993|203522|203525|203526|203529|203532|203533|203537|203540|203544|203548|203555|203558|227402|243311|273200|332705|342879|342881|342883|348219|348220|348222|348225|348226|349425|349427|349428|349431|379492|426291|439202|446066|470496|488043|506577|532739|532752|532755|533179|572273|614454|647775|647777|653605|683148|688968|798921|806381|851799|880005|880006|880007|880008|880009|880010|880011|880012|971120|979972", + "upstreamId": "23340|23341|23342|23343|23344|33917|33918|33919|33920|134576|141136|141137|141138|141139|141140|142197|177428|192184|200993|203522|203525|203526|203529|203532|203533|203537|203540|203544|203548|203555|203558|227402|243311|273200|332705|342879|342881|342883|348219|348220|348222|348225|348226|349425|349427|349428|349431|379492|426291|439202|446066|470496|488043|506577|532739|532752|532755|533179|572273|614454|647775|647777|653605|683148|688968|798921|806381|851799|880005|880006|880007|880008|880009|880010|880011|880012|971120|979972", "text": "Deficiency of guanidinoacetate methyltransferase" }, { - "baseId": "23341|23342|33917|141136|141137|141138|141139|177428|192184|203522|203523|203525|203526|203527|203528|203529|203530|203531|203532|203533|203537|203540|203543|203544|203546|203548|203555|203558|227402|243311|271551|273200|332705|342881|348220|348225|349431|377332|377532|377539|379492|403199|426289|426291|446063|446066|468531|469470|470496|470500|470507|470508|506560|507634|532739|532741|532745|532749|532750|532752|532755|532762|532812|532818|532821|532823|533179|570566|570570|570573|572273|572279|572281|572283|572965|574895|574896|574898|574900|580386|580509|647775|647776|647777|647778|647779|647780|647781|647782|647783|653016|653019|653491|653605|684781|688966|688968|694336|741614|776561|786085|821300|847388|847389|847390|847391|847392|847393|847394|847395|847396|847397|847398|847399|851799|852854|852856|852964|852965|928888|928889|938602|938603|938604|938605|940473|950700|958557|958558|958559|958560|958561|958562|958563|960286", + "upstreamId": "23341|23342|33917|141136|141137|141138|141139|177428|192184|203522|203523|203525|203526|203527|203528|203529|203530|203531|203532|203533|203537|203540|203543|203544|203546|203548|203555|203558|227402|243311|271551|273200|332705|342881|348220|348225|349431|377332|377532|377539|379492|403199|426289|426291|446063|446066|468531|469470|470496|470500|470507|470508|506560|507634|532739|532741|532745|532749|532750|532752|532755|532762|532812|532818|532821|532823|533179|570566|570570|570573|572273|572279|572281|572283|572965|574895|574896|574898|574900|580386|580509|647775|647776|647777|647778|647779|647780|647781|647782|647783|653016|653019|653491|653605|684781|688966|688968|694336|741614|776561|786085|821300|847388|847389|847390|847391|847392|847393|847394|847395|847396|847397|847398|847399|851799|852854|852856|852964|852965|928888|928889|938602|938603|938604|938605|940473|950700|958557|958558|958559|958560|958561|958562|958563|960286", "text": "Cerebral creatine deficiency syndrome" }, { - "baseId": "23345|44691|44692|44693|55575|55576|55577|55578|55579|55582|55583|55588|55589|55590|55591|55592|55593|55594|55595|55596|55597|176682|178732|189996|189999|190000|190004|198510|198512|198513|198515|224544|243060|258757|346985|361035|378985|402449|402739|402743|403273|403275|403278|403287|403302|415602|415603|463041|467983|469326|469753|469754|469758|469759|497295|508905|513598|515690|531246|532277|532379|563886|570152|570153|571926|571931|572634|612055|647207|647208|647209|647210|647211|647212|647213|684756|772126|776599|800088|846828|846829|928699|928700|938426|938427|938428|940455|940456|941209|950514|958461|966428|966451", + "upstreamId": "23345|44691|44692|44693|55575|55576|55577|55578|55579|55582|55583|55588|55589|55590|55591|55592|55593|55594|55595|55596|55597|176682|178732|189996|189999|190000|190004|198510|198512|198513|198515|224544|243060|258757|346985|361035|378985|402449|402739|402743|403273|403275|403278|403287|403302|415602|415603|463041|467983|469326|469753|469754|469758|469759|497295|508905|513598|515690|531246|532277|532379|563886|570152|570153|571926|571931|572634|612055|647207|647208|647209|647210|647211|647212|647213|684756|772126|776599|800088|846828|846829|928699|928700|938426|938427|938428|940455|940456|941209|950514|958461|966428|966451", "text": "Left ventricular noncompaction 1" }, { - "baseId": 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+ "upstreamId": 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"text": "Seckel syndrome 1" }, { - "baseId": "23347|23347|23348|23349|23350|187103|230534|230534|320763|320764|320765|320773|320777|320778|320779|320784|329651|329653|329656|329657|336219|336226|336236|336241|338134|338136|338141|338160|338163|338171|338172|338173|338177|338177|404817|437971|463856|464211|488884|622113|871983|871984|871985|871986|871987|871988|871989|871990|871991|871992|871993|871994|871995|871996|962987|970996", + "upstreamId": "23347|23347|23348|23349|23350|187103|230534|230534|320763|320764|320765|320773|320777|320778|320779|320784|329651|329653|329656|329657|336219|336226|336236|336241|338134|338136|338141|338160|338163|338171|338172|338173|338177|338177|404817|437971|463856|464211|488884|622113|871983|871984|871985|871986|871987|871988|871989|871990|871991|871992|871993|871994|871995|871996|962987|970996", "text": "Branchiootic syndrome 3" }, { - "baseId": "23347|23347|23349|204589|230534|230534|320763|320764|320765|320773|320777|320778|320779|320784|329651|329653|329656|329657|336219|336226|336236|336241|338134|338136|338141|338160|338163|338171|338172|338173|338177|338177|404817|437971|463856|464211|488884|622113|677283|871983|871984|871985|871986|871987|871988|871989|871990|871991|871992|871993|871994|871995|871996", + "upstreamId": "23347|23347|23349|204589|230534|230534|320763|320764|320765|320773|320777|320778|320779|320784|329651|329653|329656|329657|336219|336226|336236|336241|338134|338136|338141|338160|338163|338171|338172|338173|338177|338177|404817|437971|463856|464211|488884|622113|677283|871983|871984|871985|871986|871987|871988|871989|871990|871991|871992|871993|871994|871995|871996", "text": "Deafness, autosomal dominant 23" }, { - "baseId": 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+ "upstreamId": 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"text": "Hypocalciuric hypercalcemia, familial, type 1" }, { - "baseId": 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"text": "Familial hypocalciuric hypercalcemia" }, { - "baseId": 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"text": "Hypocalcemia, autosomal dominant 1" }, { - "baseId": "23352|23353|23355|23356|23357|23358|23368|23380|23384|23388|23390|44440|44451|190256|193423|195231|195232|239060|239061|239063|239064|239066|239067|239068|239071|250863|269518|288297|288298|288300|288305|288307|288311|288319|288320|289063|289064|289066|289101|289102|292030|292031|292035|292036|292042|292046|292048|292049|292050|292139|292147|292154|292170|292172|292174|292175|292176|292177|353611|393209|393641|425518|452021|519009|519035|621905|630758|747922|827396|887729|887730|887731|887732|887733|887734", + "upstreamId": "23352|23353|23355|23356|23357|23358|23368|23380|23384|23388|23390|44440|44451|190256|193423|195231|195232|239060|239061|239063|239064|239066|239067|239068|239071|250863|269518|288297|288298|288300|288305|288307|288311|288319|288320|289063|289064|289066|289101|289102|292030|292031|292035|292036|292042|292046|292048|292049|292050|292139|292147|292154|292170|292172|292174|292175|292176|292177|353611|393209|393641|425518|452021|519009|519035|621905|630758|747922|827396|887729|887730|887731|887732|887733|887734", "text": "Neonatal severe hyperparathyroidism" }, { - "baseId": "23382|23383|23385|75244", + "upstreamId": "23382|23383|23385|75244", "text": "Hypocalcemia, autosomal dominant 1, with bartter syndrome" }, { - "baseId": "23388", + "upstreamId": "23388", "text": "Serum calcium level" }, { - "baseId": "23388|28796|44440|44449|44458|190256|193423|195231|195232|239060|239061|239063|239064|239066|239067|239068|239071|250863|254060|254061|269518|288297|288298|288300|288305|288307|288311|288319|288320|289063|289064|289066|289101|289102|292030|292031|292035|292036|292042|292046|292048|292049|292050|292139|292147|292154|292170|292172|292174|292175|292176|292177|298696|298697|298698|298705|298706|298713|298715|298719|298720|298723|301135|301146|301148|301159|301160|301164|301172|301181|301198|305548|305552|305554|305556|305663|305666|305667|305673|305674|305678|305685|313368|313370|325603|325604|325608|326630|326641|353611|353741|393209|393641|425518|426716|519009|519035|630758|721633|721634|721635|735325|735326|747922|827396|867597|867598|867599|867600|887729|887730|887731|887732|887733|887734|895179|895180|895181|895182|895183|895184|895185|895186|895187|895188|895189|895190|895191|895192|896175|896176", + "upstreamId": "23388|28796|44440|44449|44458|190256|193423|195231|195232|239060|239061|239063|239064|239066|239067|239068|239071|250863|254060|254061|269518|288297|288298|288300|288305|288307|288311|288319|288320|289063|289064|289066|289101|289102|292030|292031|292035|292036|292042|292046|292048|292049|292050|292139|292147|292154|292170|292172|292174|292175|292176|292177|298696|298697|298698|298705|298706|298713|298715|298719|298720|298723|301135|301146|301148|301159|301160|301164|301172|301181|301198|305548|305552|305554|305556|305663|305666|305667|305673|305674|305678|305685|313368|313370|325603|325604|325608|326630|326641|353611|353741|393209|393641|425518|426716|519009|519035|630758|721633|721634|721635|735325|735326|747922|827396|867597|867598|867599|867600|887729|887730|887731|887732|887733|887734|895179|895180|895181|895182|895183|895184|895185|895186|895187|895188|895189|895190|895191|895192|896175|896176", "text": "Familial isolated hypoparathyroidism" }, { - "baseId": "23398|452021", + "upstreamId": "23398|452021", "text": "Epilepsy, idiopathic generalized 8" }, { - "baseId": "23399", + "upstreamId": "23399", "text": "Leprosy, protection against" }, { - "baseId": "23400", + "upstreamId": "23400", "text": "Leprosy 5" }, { - "baseId": "23401|45838|316422|316423|316425|316427|316433|316435|323909|323924|329953|329961|331327|869558|869559|869560|869561", + "upstreamId": "23401|45838|316422|316423|316425|316427|316433|316435|323909|323924|329953|329961|331327|869558|869559|869560|869561", "text": "Retinal cone dystrophy 3A" }, { - "baseId": 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"text": "Encephalopathy, acute, infection-induced, 3, suceptibility to" }, { - "baseId": "23408|23409|48508|247078|408628|576151|576152|613396|626314|791225|791226|791227|903590|980345|980346", + "upstreamId": "23408|23409|48508|247078|408628|576151|576152|613396|626314|791225|791226|791227|903590|980345|980346", "text": "Warsaw breakage syndrome" }, { - "baseId": "23410|23410|23411|23412|23412|23413|47804|253214|253214|253218|253218|270642|306085|306088|306098|306101|306102|306104|306111|306112|306118|306119|306119|310130|310138|310146|310149|310151|310157|310158|310158|310160|310160|310171|310176|310176|315453|315463|315466|315467|315488|315502|315503|315504|315638|315639|315644|315645|315656|315660|315664|315665|315666|315668|458107|692527|692527|692528|692528|700686|835158|835159|835160|835161|835162|835163|835164|835165|835166|900578|900579|900580|900581|900582|900583|900584|900585|900586|900587|900588|900589|900590|900591|900592|900593|900594|900595|900596|900597|900598|900599|900600|900601|900602|900603|900604|900605|900606|900607|900608|900609|900610|900611|900611|900612|900613|903278|934450|934451|946230|946231|946232|946233|946234|946235|955528|955529|955530", + "upstreamId": "23410|23410|23411|23412|23412|23413|47804|253214|253214|253218|253218|270642|306085|306088|306098|306101|306102|306104|306111|306112|306118|306119|306119|310130|310138|310146|310149|310151|310157|310158|310158|310160|310160|310171|310176|310176|315453|315463|315466|315467|315488|315502|315503|315504|315638|315639|315644|315645|315656|315660|315664|315665|315666|315668|458107|692527|692527|692528|692528|700686|835158|835159|835160|835161|835162|835163|835164|835165|835166|900578|900579|900580|900581|900582|900583|900584|900585|900586|900587|900588|900589|900590|900591|900592|900593|900594|900595|900596|900597|900598|900599|900600|900601|900602|900603|900604|900605|900606|900607|900608|900609|900610|900611|900611|900612|900613|903278|934450|934451|946230|946231|946232|946233|946234|946235|955528|955529|955530", "text": "Klippel-Feil syndrome 1, autosomal dominant" }, { - "baseId": "23410|23414|23415|253214|253218|270642|306119|310158|310160|310176|458107|692527|692528|700686|835158|835159|835160|835161|835162|835163|835164|835165|835166|900611|934450|934451|946230|946231|946232|946233|946234|946235|955528|955529|955530", + "upstreamId": "23410|23414|23415|253214|253218|270642|306119|310158|310160|310176|458107|692527|692528|700686|835158|835159|835160|835161|835162|835163|835164|835165|835166|900611|934450|934451|946230|946231|946232|946233|946234|946235|955528|955529|955530", "text": "Microphthalmia, isolated 4" }, { - "baseId": "23410|39115|75114|75115|253214|253218|270642|306119|310158|310160|310176|458107|692527|692528|700686|835158|835159|835160|835161|835162|835163|835164|835165|835166|900611|934450|934451|946230|946231|946232|946233|946234|946235|955528|955529|955530", + "upstreamId": "23410|39115|75114|75115|253214|253218|270642|306119|310158|310160|310176|458107|692527|692528|700686|835158|835159|835160|835161|835162|835163|835164|835165|835166|900611|934450|934451|946230|946231|946232|946233|946234|946235|955528|955529|955530", "text": "Leber congenital amaurosis 17" }, { - "baseId": "23410|23412|306108|310135|310152|310156|315489|315496|315648|315649|315657|353847|578582|622481", + "upstreamId": "23410|23412|306108|310135|310152|310156|315489|315496|315648|315649|315657|353847|578582|622481", "text": "Klippel Feil syndrome" }, { - "baseId": "23416|23429|190284|257355|257356|257358|268853|335334|335335|335336|345188|345191|345196|345197|349911|349916|349919|349924|349929|350933|350934|350935|350936|350937|350938|586217|805112|886045|886046|886047|886048|886049|886050|886051|886052|886053|886054|886055|886056|886057|887456", + "upstreamId": "23416|23429|190284|257355|257356|257358|268853|335334|335335|335336|345188|345191|345196|345197|349911|349916|349919|349924|349929|350933|350934|350935|350936|350937|350938|586217|805112|886045|886046|886047|886048|886049|886050|886051|886052|886053|886054|886055|886056|886057|887456", "text": "Acromesomelic dysplasia, Hunter-Thompson type" }, { - "baseId": "23417|23421|23423|23424|23430|260804", + "upstreamId": "23417|23421|23423|23424|23430|260804", "text": "Brachydactyly type C" }, { - "baseId": "23418|23419|23429|190284|257355|257356|257358|268853|335334|335335|335336|345188|345191|345196|345197|349911|349916|349919|349924|349929|350933|350934|350935|350936|350937|350938|586217|612333|816493|886045|886046|886047|886048|886049|886050|886051|886052|886053|886054|886055|886056|886057|887456", + "upstreamId": "23418|23419|23429|190284|257355|257356|257358|268853|335334|335335|335336|345188|345191|345196|345197|349911|349916|349919|349924|349929|350933|350934|350935|350936|350937|350938|586217|612333|816493|886045|886046|886047|886048|886049|886050|886051|886052|886053|886054|886055|886056|886057|887456", "text": "Grebe syndrome" }, { - "baseId": "23420|23426|23429|23432|23433|190284|257355|257356|257358|268853|335334|335335|335336|345188|345191|345196|345197|349911|349916|349919|349924|349927|349929|350933|350934|350935|350936|350937|350938|424259|439689|586217|886045|886046|886047|886048|886049|886050|886051|886052|886053|886054|886055|886056|886057|887456", + "upstreamId": "23420|23426|23429|23432|23433|190284|257355|257356|257358|268853|335334|335335|335336|345188|345191|345196|345197|349911|349916|349919|349924|349927|349929|350933|350934|350935|350936|350937|350938|424259|439689|586217|886045|886046|886047|886048|886049|886050|886051|886052|886053|886054|886055|886056|886057|887456", "text": "Fibular hypoplasia and complex brachydactyly" }, { - "baseId": "23425|23428|23431", + "upstreamId": "23425|23428|23431", "text": "Symphalangism, proximal, 1B" }, { - "baseId": "23425|23427|23429|190284|257355|257356|257358|268853|335334|335335|335336|345188|345191|345196|345197|349911|349916|349919|349924|349929|350933|350934|350935|350936|350937|350938|586217|886045|886046|886047|886048|886049|886050|886051|886052|886053|886054|886055|886056|886057|887456", + "upstreamId": "23425|23427|23429|190284|257355|257356|257358|268853|335334|335335|335336|345188|345191|345196|345197|349911|349916|349919|349924|349929|350933|350934|350935|350936|350937|350938|586217|886045|886046|886047|886048|886049|886050|886051|886052|886053|886054|886055|886056|886057|887456", "text": "Multiple synostoses syndrome 2" }, { - "baseId": "23429", + "upstreamId": "23429", "text": "Osteoarthritis of hip" }, { - "baseId": "23429|39217|190284|215305|257355|257356|257358|264298|268853|272112|284777|294668|294669|294673|294674|294679|294682|294683|294691|294695|294696|294702|294703|294708|294710|294714|294730|294732|294733|294735|296213|296214|296223|296224|296231|296234|296235|296236|296245|296260|296262|296265|296266|296267|296273|296274|296278|296290|296291|299980|299981|299982|299987|300002|300003|300004|300006|300008|300011|300012|300020|300021|300022|300023|300024|300025|300026|300027|300028|300030|300035|300037|300039|300040|300043|300045|300046|300047|300049|300052|300055|300074|300075|300092|313508|319315|335334|335335|335336|345188|345191|345196|345197|349911|349916|349919|349924|349927|349929|350933|350934|350935|350936|350937|350938|353559|359571|360870|360897|520289|550229|586217|625969|691640|886045|886046|886047|886048|886049|886050|886051|886052|886053|886054|886055|886056|886057|887456|892537|892538|892539|892540|892541|892542|892543|892544|892545|892546|892547|892548|892549|892550|892551|892552|892553|892554|892555|892556|892557|892558|892559|892560|892561|892562|892563|892564|892565|892566|892567|892568|892569|892570|892571|892572|892573|892574|892575|892576|892577|892578|892579|896008|896009", + "upstreamId": "23429|39217|190284|215305|257355|257356|257358|264298|268853|272112|284777|294668|294669|294673|294674|294679|294682|294683|294691|294695|294696|294702|294703|294708|294710|294714|294730|294732|294733|294735|296213|296214|296223|296224|296231|296234|296235|296236|296245|296260|296262|296265|296266|296267|296273|296274|296278|296290|296291|299980|299981|299982|299987|300002|300003|300004|300006|300008|300011|300012|300020|300021|300022|300023|300024|300025|300026|300027|300028|300030|300035|300037|300039|300040|300043|300045|300046|300047|300049|300052|300055|300074|300075|300092|313508|319315|335334|335335|335336|345188|345191|345196|345197|349911|349916|349919|349924|349927|349929|350933|350934|350935|350936|350937|350938|353559|359571|360870|360897|520289|550229|586217|625969|691640|886045|886046|886047|886048|886049|886050|886051|886052|886053|886054|886055|886056|886057|887456|892537|892538|892539|892540|892541|892542|892543|892544|892545|892546|892547|892548|892549|892550|892551|892552|892553|892554|892555|892556|892557|892558|892559|892560|892561|892562|892563|892564|892565|892566|892567|892568|892569|892570|892571|892572|892573|892574|892575|892576|892577|892578|892579|896008|896009", "text": "Brachydactyly" }, { - "baseId": "23434|23435|23436|23437|23438|23439|70595|70596|70597|70598|70599|70600|134306|140740|171260|171261|171262|171263|192177|203827|336905|336910|346610|346615|350776|350777|350782|350783|350786|351823|351826|351829|377303|425232|507584|573834|886890|886891|886892|886893|886894|886895|886896", + "upstreamId": "23434|23435|23436|23437|23438|23439|70595|70596|70597|70598|70599|70600|134306|140740|171260|171261|171262|171263|192177|203827|336905|336910|346610|346615|350776|350777|350782|350783|350786|351823|351826|351829|377303|425232|507584|573834|886890|886891|886892|886893|886894|886895|886896", "text": "Unverricht-Lundborg syndrome" }, { - "baseId": "23434", + "upstreamId": "23434", "text": "Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)" }, { - "baseId": "23434|263323|409653|801158|801161|921260", + "upstreamId": "23434|263323|409653|801158|801161|921260", "text": "Dyskinesia" }, { - "baseId": "23434|169841|214799|214800|214801|214802|384443|409653|535682|590047|590048|590085|801161|904239|904355", + "upstreamId": "23434|169841|214799|214800|214801|214802|384443|409653|535682|590047|590048|590085|801161|904239|904355", "text": "Chorea" }, { - "baseId": "23434", + "upstreamId": "23434", "text": "Cerebral dysmyelination" }, { - "baseId": "23434|217214|217215|217216|263352|263361|480624|481174|481175|623724|965446|971487", + "upstreamId": "23434|217214|217215|217216|263352|263361|480624|481174|481175|623724|965446|971487", "text": "Encephalopathy" }, { - "baseId": "23435|75270|79480|79508|94304|99578|101111|134635|135473|135564|135573|135707|140512|168758|178089|191900|192525|192753|194022|195130|196078|201357|201786|201798|201883|202050|202080|202085|202093|202151|202160|207655|243706|243712|259332|259344|259367|259368|259370|265480|265506|313525|313526|363657|375648|380289|401964|402113|404385|408656|413413|426647|426648|426649|426650|426651|426652|426653|426654|426655|426656|426657|426658|426659|426660|426661|426662|426663|426664|426665|426666|426667|426668|426669|426670|426671|426672|426673|426674|426675|426676|426677|426678|426679|426680|426681|426682|426683|426684|426685|426686|426687|426688|426689|426690|426691|426692|426693|426694|426695|426696|426697|426698|426699|426700|426701|426702|426703|426704|426705|426706|551739", + "upstreamId": "23435|75270|79480|79508|94304|99578|101111|134635|135473|135564|135573|135707|140512|168758|178089|191900|192525|192753|194022|195130|196078|201357|201786|201798|201883|202050|202080|202085|202093|202151|202160|207655|243706|243712|259332|259344|259367|259368|259370|265480|265506|313525|313526|363657|375648|380289|401964|402113|404385|408656|413413|426647|426648|426649|426650|426651|426652|426653|426654|426655|426656|426657|426658|426659|426660|426661|426662|426663|426664|426665|426666|426667|426668|426669|426670|426671|426672|426673|426674|426675|426676|426677|426678|426679|426680|426681|426682|426683|426684|426685|426686|426687|426688|426689|426690|426691|426692|426693|426694|426695|426696|426697|426698|426699|426700|426701|426702|426703|426704|426705|426706|551739", "text": "Rolandic epilepsy" }, { - "baseId": 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+ "upstreamId": 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"text": "Distal hereditary motor neuronopathy type 7B" }, { - "baseId": 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+ "upstreamId": 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"text": "Amyotrophic lateral sclerosis type 1" }, { - "baseId": 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+ "upstreamId": 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"text": "Perry syndrome" }, { - "baseId": "23441|23442|23443|23444|28745|28746|29074", + "upstreamId": "23441|23442|23443|23444|28745|28746|29074", "text": "Amyotrophic lateral sclerosis, susceptibility to" }, { - "baseId": "23447", + "upstreamId": "23447", "text": "Tolbutamide response" }, { - "baseId": "23447|23448", + "upstreamId": "23447|23448", "text": "Phenytoin response" }, { - "baseId": "23447", + "upstreamId": "23447", "text": "Glipizide response" }, { - "baseId": "23447", + "upstreamId": "23447", "text": "diclofenac response - Toxicity/ADR" }, { - "baseId": "23447", + "upstreamId": "23447", "text": "celecoxib response - Dosage" }, { - "baseId": "23447", + "upstreamId": "23447", "text": "Antiinflammatory agents, non-steroids response - Toxicity/ADR" }, { - "baseId": "23447", + "upstreamId": "23447", "text": "celecoxib response - Toxicity/ADR" }, { - "baseId": "23447", + "upstreamId": "23447", "text": "acenocoumarol response - Dosage, Toxicity/ADR" }, { - "baseId": "23447|227781", + "upstreamId": "23447|227781", "text": "acenocoumarol response - Toxicity/ADR" }, { - "baseId": "23447|227781", + "upstreamId": "23447|227781", "text": "warfarin response - Toxicity/ADR" }, { - "baseId": "23447|23448|227771|227774|269838|354244", + "upstreamId": "23447|23448|227771|227774|269838|354244", "text": "Flurbiprofen response" }, { - "baseId": "23447|23448|227771|227774|269838|354244", + "upstreamId": "23447|23448|227771|227774|269838|354244", "text": "Lesinurad response" }, { - "baseId": "23447|23448|227771|227774|269838|354244", + "upstreamId": "23447|23448|227771|227774|269838|354244", "text": "Piroxicam response" }, { - "baseId": "23448", + "upstreamId": "23448", "text": "warfarin response - Efficacy, Toxicity/ADR" }, { - "baseId": "23450", + "upstreamId": "23450", "text": "DRUG METABOLISM, ALTERED, CYP2C8-RELATED" }, { - "baseId": 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"text": "Dubin-Johnson syndrome" }, { - "baseId": "23459|23460|23461|23462|23463|23464|23465|267313|276389|276390|276391|276616|276619|276620|277128|277136|277137|277234|277235|277236|356980|356981|356982|356983|356984|356985|356986|356987|356988|356989|356990|356991|356992|356993|356994|356995|356996|540638|540640|540642|540644|540645|540646|540647|540651|540656|540657|540660|540661|540673|540674|540676|540678|612342|612343|626804|718194|729917|761188|789840|862253|862254|862255|862256|862257|862258|965348|970194|970195|977442", + "upstreamId": 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"text": "Charcot-Marie-Tooth disease, type I" }, { - "baseId": "23469|23470|23474|23476|23482|23484|23485|77741|249644|327314|327315|337130|337131|337134|337137|337141|337142|337143|337144|343368|343369|343372|343373|343376|343377|343380|344947|344960|344962|344963|344969|378084|401543|613851|613982|614029|614031|614033|625366|625370|625371|791676|876804|876805|876806|876807|876808|876809|876810|876811|876812|876813|876814|876815|876816|876817|876818|876819|876820|906321", + "upstreamId": "23469|23470|23474|23476|23482|23484|23485|77741|249644|327314|327315|337130|337131|337134|337137|337141|337142|337143|337144|343368|343369|343372|343373|343376|343377|343380|344947|344960|344962|344963|344969|378084|401543|613851|613982|614029|614031|614033|625366|625370|625371|791676|876804|876805|876806|876807|876808|876809|876810|876811|876812|876813|876814|876815|876816|876817|876818|876819|876820|906321", "text": "Hereditary liability to pressure palsies" }, { - "baseId": "23469", + "upstreamId": "23469", "text": "Polyneuropathy, inflammatory demyelinating" }, { - "baseId": "23470", + "upstreamId": "23470", "text": "Charcot-Marie-Tooth disease, type 1a, autosomal recessive" }, { - "baseId": "23471|23472|23473|23477|23478|29208|29209", + "upstreamId": "23471|23472|23473|23477|23478|29208|29209", "text": "Dejerine-Sottas syndrome, autosomal dominant" }, { - "baseId": "23475|23479|23480|23483|39114|204478|426772", + "upstreamId": "23475|23479|23480|23483|39114|204478|426772", "text": "Charcot-Marie-Tooth disease and deafness" }, { - "baseId": 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+ "upstreamId": 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"text": "Charcot-Marie-Tooth disease type 2E" }, { - "baseId": "23481", + "upstreamId": "23481", "text": "Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths" }, { - "baseId": "23483", + "upstreamId": "23483", "text": "PMP22-Related Disorders" }, { - "baseId": "23486|23487|39113|249980|267189|270847|272086|273530|359074|365343|414803|418809|418809|418810|448226|489784|492837|609191|628136|628137|628138|628138|628139|628140|628141|628142|654212|690635|690636|690637|696788|746547|780725|824218|824219|824220|824221|824222|824223|824224|824225|824226|824227|824228|824229|918642|922113|922114|930589|930590|930591|930592|930593|930594|930595|942025|942026|942027|942028|952463|971542", + "upstreamId": "23486|23487|39113|249980|267189|270847|272086|273530|359074|365343|414803|418809|418809|418810|448226|489784|492837|609191|628136|628137|628138|628138|628139|628140|628141|628142|654212|690635|690636|690637|696788|746547|780725|824218|824219|824220|824221|824222|824223|824224|824225|824226|824227|824228|824229|918642|922113|922114|930589|930590|930591|930592|930593|930594|930595|942025|942026|942027|942028|952463|971542", "text": "Congenital primary aphakia" }, { - "baseId": "23490|23491|23492|23495|23496|23498|39112|181384|456064|486790|962066|962069|980581", + "upstreamId": "23490|23491|23492|23495|23496|23498|39112|181384|456064|486790|962066|962069|980581", "text": "Anterior segment dysgenesis 3" }, { - "baseId": 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"23493|23494|23497|23499|23500|39112|106553|177717|177719|190372|259842|270898|362195|362196|362197|362198|362199|362200|362201|362202|362203|362204|362205|362206|362207|362208|362209|362210|415036|424244|455426|455532|455761|456064|456064|456254|456255|486789|521484|521490|521491|521792|521798|521801|521807|550782|560652|563468|563473|582906|634761|634762|634763|654128|691969|691970|721868|765582|831733|831734|831735|831736|831737|831738|831739|831740|831741|904270|919016|919017|933242|933243|980581", "text": "Axenfeld-Rieger syndrome type 3" }, { - "baseId": "23501|23502|23503|23504|230673|326503|326532|336303|336309|336327|336349|336352|342536|342543|342561|344160|344180|361003|551792|677038|677058|679795|740408|788963|788964|788965|788966|788967|788968|788969|788970|788971|788972|788973|788974|788975|788976|801561|805106|857705|857706|857707|857708|857709|904753|904754|962047|963335|963336|963337|963338|965232|965233|965626", + "upstreamId": "23501|23502|23503|23504|230673|326503|326532|336303|336309|336327|336349|336352|342536|342543|342561|344160|344180|361003|551792|677038|677058|679795|740408|788963|788964|788965|788966|788967|788968|788969|788970|788971|788972|788973|788974|788975|788976|801561|805106|857705|857706|857707|857708|857709|904753|904754|962047|963335|963336|963337|963338|965232|965233|965626", "text": "Persistent fetal circulation syndrome" }, { - "baseId": "23505|39111|165487|165488|165489|192098|194890|213217|213220|213221|222532|222533|242494|244988|244990|244999|267234|272210|326182|326184|326192|326194|326195|326197|326198|335862|335871|335876|335878|335882|335885|335888|335889|335893|335895|335897|335900|342247|342248|342252|342254|342256|342262|343797|343802|343808|343812|343816|343818|343825|343833|343834|343836|343842|343847|343848|343849|375578|377737|377740|445605|466646|505726|530520|540466|570422|620560|656385|677307|688633|688639|693916|799083|875884|875885|875886|875887|875888|875889|875890|875891|875892|875893|875894|875895|875896", + "upstreamId": "23505|39111|165487|165488|165489|192098|194890|213217|213220|213221|222532|222533|242494|244988|244990|244999|267234|272210|326182|326184|326192|326194|326195|326197|326198|335862|335871|335876|335878|335882|335885|335888|335889|335893|335895|335897|335900|342247|342248|342252|342254|342256|342262|343797|343802|343808|343812|343816|343818|343825|343833|343834|343836|343842|343847|343848|343849|375578|377737|377740|445605|466646|505726|530520|540466|570422|620560|656385|677307|688633|688639|693916|799083|875884|875885|875886|875887|875888|875889|875890|875891|875892|875893|875894|875895|875896", "text": "Charcot-Marie-Tooth disease, type 2N" }, { - "baseId": "23506|205252|205702", + "upstreamId": "23506|205252|205702", "text": "Lipodystrophy, congenital generalized, type 3" }, { - "baseId": 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"23507|23508|23509|23510|23511|23512|23513|191808|191919|213592|213592|214539|215001|253525|253526|253527|253532|264328|264531|267452|268539|268541|308235|308243|308244|308246|308247|308255|312609|312619|312628|312631|312632|312633|318524|318528|318529|318534|318546|319032|319044|319050|319056|444478|459539|459541|459547|524550|524557|524945|525101|525102|525108|563943|563947|565887|569010|584135|638217|638218|638219|638221|692665|861363|901964|901965|901966|901967|901968|901969|901970|901971|901972|901973|901974|901975|903395|903396|903397|903398|903399|903400|919228|964331", "text": "Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1" }, { - "baseId": "23507|23508|23512|23513|191808|191919|253525|253530|264531|267452|268539|271637|318534|319032|319044|459155|459541|460014|460015|492903|524547|524552|524559|525095|563957|585434|586972|588557|638220|692665|700987|723557|737120|759748|767391|779588|836083|836084|836085|836086|836087|851337|901972|925568|925569|934747|934748|934749|934750|946600|946601|946602|955811|955812", + "upstreamId": "23507|23508|23512|23513|191808|191919|253525|253530|264531|267452|268539|271637|318534|319032|319044|459155|459541|460014|460015|492903|524547|524552|524559|525095|563957|585434|586972|588557|638220|692665|700987|723557|737120|759748|767391|779588|836083|836084|836085|836086|836087|851337|901972|925568|925569|934747|934748|934749|934750|946600|946601|946602|955811|955812", "text": "Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia" }, { - "baseId": "23507|23507|23508|23508|23512|23512|23513|39108|39109|191808|191808|191919|191919|213592|214539|215001|253525|253525|253526|253527|253530|253532|264328|264328|264531|267452|267452|268539|268539|268541|271637|308235|308243|308244|308246|308247|308255|312609|312619|312628|312631|312632|312633|318524|318528|318529|318534|318534|318546|319032|319032|319044|319044|319050|319056|384436|444478|459155|459539|459541|459541|459547|460014|460015|492903|524547|524550|524552|524557|524559|524945|525095|525101|525102|525108|563943|563947|563957|565887|569010|584135|585434|586972|588557|638217|638218|638219|638220|638221|692665|692665|700987|723557|737120|759748|767391|779588|836083|836084|836085|836086|836087|851337|861362|901964|901965|901966|901967|901968|901969|901970|901971|901972|901972|901973|901974|901975|903395|903396|903397|903398|903399|903400|925568|925569|934747|934748|934749|934750|946600|946601|946602|955811|955812", + "upstreamId": "23507|23507|23508|23508|23512|23512|23513|39108|39109|191808|191808|191919|191919|213592|214539|215001|253525|253525|253526|253527|253530|253532|264328|264328|264531|267452|267452|268539|268539|268541|271637|308235|308243|308244|308246|308247|308255|312609|312619|312628|312631|312632|312633|318524|318528|318529|318534|318534|318546|319032|319032|319044|319044|319050|319056|384436|444478|459155|459539|459541|459541|459547|460014|460015|492903|524547|524550|524552|524557|524559|524945|525095|525101|525102|525108|563943|563947|563957|565887|569010|584135|585434|586972|588557|638217|638218|638219|638220|638221|692665|692665|700987|723557|737120|759748|767391|779588|836083|836084|836085|836086|836087|851337|861362|901964|901965|901966|901967|901968|901969|901970|901971|901972|901972|901973|901974|901975|903395|903396|903397|903398|903399|903400|925568|925569|934747|934748|934749|934750|946600|946601|946602|955811|955812", "text": "Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia" }, { - "baseId": "23515|142925|142927|186287|188710|188716|188722|188723|188726|188733|188734|188743|188744|189373|189376|189377|199810|213468|222853|243578|259046|259049|259050|259052|259054|259059|259063|335276|335279|335290|345097|345102|345105|345107|345111|345112|345116|349881|349882|349884|349885|350900|350901|350904|350907|350909|350911|350913|350918|376975|379690|424903|551796|609299|656631|800173|800174|886010|886011|886012|886013|886014|886015|886016|886017|886018|886019|886020|886021|886022|886023|887454", + "upstreamId": "23515|142925|142927|186287|188710|188716|188722|188723|188726|188733|188734|188743|188744|189373|189376|189377|199810|213468|222853|243578|259046|259049|259050|259052|259054|259059|259063|335276|335279|335290|345097|345102|345105|345107|345111|345112|345116|349881|349882|349884|349885|350900|350901|350904|350907|350909|350911|350913|350918|376975|379690|424903|551796|609299|656631|800173|800174|886010|886011|886012|886013|886014|886015|886016|886017|886018|886019|886020|886021|886022|886023|887454", "text": "Long QT syndrome 12" }, { - "baseId": "23516|23517|23518|23519|23521|23522|23524|23525|34307|34308|34309|34310|34311|106599|136651|181440|194949|244008|266785|274813|330513|339018|363908|547270|547276|547284|547290|547357|547359|547365|547849|547851|547867|642685|652325|714233|725798|820646|841724|841725|872544|903598|972198|972199|972200|972201|972202|979527|979528|979529|979530|979531", + "upstreamId": "23516|23517|23518|23519|23521|23522|23524|23525|34307|34308|34309|34310|34311|106599|136651|181440|194949|244008|266785|274813|330513|339018|363908|547270|547276|547284|547290|547357|547359|547365|547849|547851|547867|642685|652325|714233|725798|820646|841724|841725|872544|903598|972198|972199|972200|972201|972202|979527|979528|979529|979530|979531", "text": "Niemann-Pick disease, type C2" }, { - "baseId": "23526|23527|23528|23529|23536|23538|23542|23543|23544|23546|23549|23552|23559|79314|79317|79320|79324|79326|79327|79330|99466|134003|134004|134005|134009|193096|193096|208540|248801|256789|264732|376191|376243|376246|377390|410491|410492|422242|426285|430969|442048|442070|446057|446061|552215|577721|672109|919827|919828|919829|919830|919831|920400|920401|964508|980555|983696", + "upstreamId": "23526|23527|23528|23529|23536|23538|23542|23543|23544|23546|23549|23552|23559|79314|79317|79320|79324|79326|79327|79330|99466|134003|134004|134005|134009|193096|193096|208540|248801|256789|264732|376191|376243|376246|377390|410491|410492|422242|426285|430969|442048|442070|446057|446061|552215|577721|672109|919827|919828|919829|919830|919831|920400|920401|964508|980555|983696", "text": "Familial hemiplegic migraine type 1" }, { - "baseId": "23527", + "upstreamId": "23527", "text": "Migraine, sporadic hemiplegic, with progressive cerebellar ataxia" }, { - "baseId": 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"text": "Episodic ataxia type 2" }, { - "baseId": 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"text": "Epileptic encephalopathy, early infantile, 42" }, { - "baseId": "23527|23535|23544|23546|23549|79323|193096|208540|213651|248801|376191|376243|376243|377390|410491|410492|422242|426285|442048|442070|446057|446061|553275|578564|609334|626271|672109|964506", + "upstreamId": "23527|23535|23544|23546|23549|79323|193096|208540|213651|248801|376191|376243|376243|377390|410491|410492|422242|426285|442048|442070|446057|446061|553275|578564|609334|626271|672109|964506", "text": "Spinocerebellar ataxia type 6" }, { - "baseId": "23544", + "upstreamId": "23544", "text": "Migraine, sporadic hemiplegic" }, { - "baseId": "23548", + "upstreamId": "23548", "text": "Episodic ataxia, type 2, and epilepsy" }, { - "baseId": "23560|23562|23563", + "upstreamId": "23560|23562|23563", "text": "LEPTIN RECEPTOR POLYMORPHISM" }, { - "baseId": 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"23560|23561|23562|23563|45129|281113|281114|281120|281121|281124|281133|281139|281140|281144|281740|281741|281742|281750|281751|281752|281759|281762|281763|282919|282920|282921|282944|282947|282950|283218|283224|283238|283242|283245|380185|446902|480430|611351|654157|696844|707497|732564|732565|794002|864739|864740|864741|864742|864743|864744|864745|864746|864747|864748|864749|864750|864751|864752|864753|864754|864755|864756|864757|864758|864759|864760|864761|864762|864763|864764|864765|864766|864767|864768|864769|864770|865202|865203|865204|918645", "text": "Leptin receptor deficiency" }, { - "baseId": "23564|23565|23566|23567|23568|23569|23570|335314|335316|335318|335324|335327|335328|335331|345149|345160|345161|345164|345165|345167|345171|345184|345187|349905|349907|349909|350928|350931|350932|378007|469355|488009|507307|620657|648641|648642|689197|786361|848318|852373|886033|886034|886035|886036|886037|886038|886039|886040|886041|886042|886043|886044|929165|929166|938947|951046|958813", + "upstreamId": "23564|23565|23566|23567|23568|23569|23570|335314|335316|335318|335324|335327|335328|335331|345149|345160|345161|345164|345165|345167|345171|345184|345187|349905|349907|349909|350928|350931|350932|378007|469355|488009|507307|620657|648641|648642|689197|786361|848318|852373|886033|886034|886035|886036|886037|886038|886039|886040|886041|886042|886043|886044|929165|929166|938947|951046|958813", "text": "Gluthathione synthetase deficiency" }, { - "baseId": "23570", + "upstreamId": "23570", "text": "Glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to" }, { - "baseId": "23571|23572|23573|23574", + "upstreamId": "23571|23572|23573|23574", "text": "Prostate cancer/brain cancer susceptibility" }, { - "baseId": "23581", + "upstreamId": "23581", "text": "Juvenile polyposis of stomach" }, { - "baseId": 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+ "upstreamId": "23581|23582|23584|23586|23587|36139|36140|36152|36168|36169|36173|36174|36176|36178|36181|36191|36210|36211|36212|36213|36215|36216|36217|36219|36220|39106|39106|47345|50227|133407|136441|136493|139786|142921|142922|142923|151879|151967|151967|181036|181036|185427|185427|185428|185438|185443|236534|243064|243077|331636|331637|331639|331641|331643|331644|331645|331648|331650|331653|331656|331664|331698|331707|331711|341892|341894|341895|341897|341898|341903|341904|341916|341919|341922|341923|341928|341929|341937|341940|341949|341956|341957|341959|341961|347245|347248|347262|347263|347266|347267|347274|347278|347279|347284|347285|347288|347289|347292|347293|347295|347297|347313|347315|347320|347323|347325|347333|347337|347339|347340|348573|348574|348576|348581|348598|348600|348602|348609|348610|348611|348621|348622|348626|348628|348632|348633|348642|348644|348645|348652|348669|348680|361883|377048|377096|379055|403342|410379|468069|468948|468989|479334|479365|485542|539082|588885|618917|879352|879353|879354|879355|879356|879357|879358|879359|879360|879361|879362|879363|879364|879365|879366|879367|879368|879369|879370|879371|879372|879373|879374|879375|879376|879377|879378|879379|879380|879381|879382|879383|879384|879385|879386|879387|879388|879389|879390|879391|879392|879393|879394|879395|879396|879397|879398|879399|879400|879401|879402|879403|879404|879405|879406|879407|879408|879409|879410|879411|879412|879413|879414|879415|880666|970632", "text": "Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome" }, { - "baseId": "23582", + "upstreamId": "23582", "text": "JP, JP/HHT, and HHT" }, { - "baseId": "23582|23584|27386|27388|27393|27394|27395|27398|27403|27404|27405|27407|27408|27409|27641|27642|27652|28691|28692|28694|28695|28698|32616|32618|32622|32625|36171|36173|40609|48304|54418|66133|80852|133271|133272|133277|139098|150535|151476|151595|151955|152428|171613|171614|176503|181000|181001|181005|185345|185366|185367|185371|185375|185394|213392|213398|213402|213943|222738|232035|236459|236461|236463|236468|236469|236477|236479|236481|242978|242980|245074|260191|260192|360335|362773|362775|362844|362870|362871|362894|362895|362896|363110|363113|363114|363123|363179|363195|363264|363270|363271|363272|363280|363281|363282|363293|363294|363295|363296|363297|363302|363303|363304|363305|363310|363311|363337|363338|363352|363353|363354|363360|363398|363399|363400|363416|363417|363418|363419|363420|363438|363439|363440|363441|363442|363448|363449|363450|363451|363452|363453|363454|363455|363456|363457|363458|363459|363460|363461|363462|363463|363469|363470|363471|363472|363473|363474|363475|363476|363477|363478|363479|363480|363481|363482|363483|363484|363485|363486|363487|363488|363489|363490|363491|363492|363493|363494|363495|363496|363497|363498|363499|363500|363501|363502|363503|363504|363505|363506|363507|363508|363509|363510|363511|363515|363518|363519|363520|363521|363522|363523|363524|363525|363528|363529|363530|363531|363532|363533|363534|363535|363536|363537|363538|363539|363540|363541|363542|363543|363544|363545|363546|363547|363548|363549|363550|363551|363558|363559|363560|363561|363562|363563|363564|363565|363569|363570|363571", + "upstreamId": "23582|23584|27386|27388|27393|27394|27395|27398|27403|27404|27405|27407|27408|27409|27641|27642|27652|28691|28692|28694|28695|28698|32616|32618|32622|32625|36171|36173|40609|48304|54418|66133|80852|133271|133272|133277|139098|150535|151476|151595|151955|152428|171613|171614|176503|181000|181001|181005|185345|185366|185367|185371|185375|185394|213392|213398|213402|213943|222738|232035|236459|236461|236463|236468|236469|236477|236479|236481|242978|242980|245074|260191|260192|360335|362773|362775|362844|362870|362871|362894|362895|362896|363110|363113|363114|363123|363179|363195|363264|363270|363271|363272|363280|363281|363282|363293|363294|363295|363296|363297|363302|363303|363304|363305|363310|363311|363337|363338|363352|363353|363354|363360|363398|363399|363400|363416|363417|363418|363419|363420|363438|363439|363440|363441|363442|363448|363449|363450|363451|363452|363453|363454|363455|363456|363457|363458|363459|363460|363461|363462|363463|363469|363470|363471|363472|363473|363474|363475|363476|363477|363478|363479|363480|363481|363482|363483|363484|363485|363486|363487|363488|363489|363490|363491|363492|363493|363494|363495|363496|363497|363498|363499|363500|363501|363502|363503|363504|363505|363506|363507|363508|363509|363510|363511|363515|363518|363519|363520|363521|363522|363523|363524|363525|363528|363529|363530|363531|363532|363533|363534|363535|363536|363537|363538|363539|363540|363541|363542|363543|363544|363545|363546|363547|363548|363549|363550|363551|363558|363559|363560|363561|363562|363563|363564|363565|363569|363570|363571", "text": "Carcinoma of esophagus" }, { - "baseId": "23584|36164|36168|36171|36173|36177", + "upstreamId": "23584|36164|36168|36171|36173|36177", "text": "JP and JP/HHT" }, { - "baseId": "23588|23589|23590|23591|153864", + "upstreamId": "23588|23589|23590|23591|153864", "text": "Ehlers-Danlos syndrome, classic-like, 1" }, { - "baseId": 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+ "upstreamId": "23592|23593|23594|23595|23597|23598|23599|23600|23601|23602|23603|23604|23605|23606|23607|23608|23609|23610|23611|250580|250581|250582|251335|251336|251337|251338|251701|251704|251708|284888|284890|284891|284895|284896|284900|284901|284908|284917|284918|284919|284927|284928|284929|284931|284932|284933|284937|284944|284950|285544|285558|285564|285572|285574|285576|285577|285578|285579|285590|285593|285595|285596|285597|285598|285604|285612|287888|287890|287893|287895|287908|287920|287924|287926|287927|287928|287930|287931|287932|287933|287934|288133|288135|288136|288137|288146|288149|288151|288168|288169|288183|288184|288186|288198|288199|288200|288204|288206|292377|292379|292380|292400|292401|292411|292417|292419|292423|292425|292426|292433|292434|292435|292436|292442|292444|292445|292447|292448|292451|292452|292458|292460|292464|292465|292466|293818|293819|293821|293822|293851|293854|293855|293856|293857|293859|293863|293873|293874|293880|293882|293893|293895|293901|295398|295409|295423|295425|295426|295429|295430|295435|295438|295443|295445|295446|295447|295453|295456|295461|295469|295470|297127|297137|297138|297142|297149|297150|297153|297162|297166|297167|297168|297171|297175|297186|297192|297195|297198|297203|297204|297205|297206|297207|297208|297209|297211|297212|297214|297218|297226|297227|297228|297231|297234|297235|297236|297237|297240|297242|297243|297244|297246|297249|297250|297257|297259|297260|297262|297263|297265|297266|297270|297274|297275|297277|301006|301017|301019|301021|301034|301035|301046|301060|301067|301079|301082|301087|301091|301094|301097|301099|301103|301104|301107|301109|301124|301132|301133|301144|301145|301149|301158|301161|301170|301171|301173|301183|301185|301186|301187|301197|301211|301215|301216|301218|301226|301253|301264|336077|336082|336092|345793|345811|345812|350275|351296|353666|513049|550280|612144|612440|709185|720781|890188|890189|890190|890191|890192|890193|890194|890195|890196|890197|890198|890199|890200|890201|890202|890203|890204|890205|890206|890207|890208|890209|890210|890211|890212|890213|890214|890215|890216|890217|890218|890219|890220|890221|890222|890223|890224|890225|890226|890227|890228|890229|890230|891752|921209|977206", "text": "Autosomal dominant pseudohypoaldosteronism type 1" }, { - "baseId": "23596", + "upstreamId": "23596", "text": "Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy" }, { - "baseId": "23612|23613|23614|23615|195332|267197|272449|275013|294535|294536|294541|294545|294546|294548|294550|294551|294553|294557|296087|296090|296091|296092|296097|296101|296104|299760|299761|299765|299766|299770|299771|299780|299783|299784|299789|299853|299857|299863|299865|299866|299871|299873|491339|734757|892447|892448|892449|892450|892451|892452|892453|892454|892455|892456|892457|892458|892459|892460|892461|892462|892463|892464|892465|892466|892467|892468", + "upstreamId": "23612|23613|23614|23615|195332|267197|272449|275013|294535|294536|294541|294545|294546|294548|294550|294551|294553|294557|296087|296090|296091|296092|296097|296101|296104|299760|299761|299765|299766|299770|299771|299780|299783|299784|299789|299853|299857|299863|299865|299866|299871|299873|491339|734757|892447|892448|892449|892450|892451|892452|892453|892454|892455|892456|892457|892458|892459|892460|892461|892462|892463|892464|892465|892466|892467|892468", "text": "Autosomal recessive hypophosphatemic vitamin D refractory rickets" }, { - "baseId": 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+ "upstreamId": "23616|23619|23621|23622|54297|54298|54299|54300|54301|54303|54305|54307|54311|54318|54320|54321|54322|54325|54326|54327|54330|54331|54333|174003|174004|174012|174013|174014|174017|174141|174147|174149|229508|237602|252537|252538|301048|301058|301062|301064|301072|301077|301081|301083|301088|301089|301092|301100|301102|301106|304036|304046|304047|304050|304053|304054|304065|304068|304086|304096|304100|304103|304104|304105|304111|304112|304113|304114|308739|308766|308771|308776|308797|308798|308799|308809|308810|308815|308816|308832|308833|308835|308837|308838|308839|308840|308841|308844|308845|308850|308853|308854|308860|308862|308864|308868|308870|308877|308879|308880|308897|308899|308900|308903|308907|384404|389225|535237|788806|802074|896856|896857|896859|896860|896861|896863|896865|896866|896867|896868|896876|896877|896878|896879|896880|896881|896882|896883|896884|896885|896886|896887|896888|896889|896890|896891|896892|896893|896894|896895|896896|896897|896898|896899|896900|896901|896902|896903|896904|896905|896906|896907|896908|896909|896910|896911|896912|896913|896914|896915|896916|896917|896918|896919|896920|896921|896922|896923|896924|896925|896926|896927|896928|896929|896930|896931|896932|896933|900270|900272|900273|905843|966150", "text": "Deafness, autosomal dominant 22" }, { - "baseId": "23617|23618|23619|54297|54298|54299|54300|54301|54303|54305|54307|54311|54318|54320|54321|54322|54325|54326|54327|54330|54331|54333|174004|174012|174013|174017|174141|174147|174149|229508|252537|252538|301048|301058|301062|301064|301072|301077|301081|301083|301088|301089|301092|301100|301102|301106|304036|304046|304047|304050|304053|304054|304065|304068|304086|304096|304100|304103|304104|304105|304111|304112|304113|304114|308739|308766|308771|308776|308797|308798|308799|308809|308810|308815|308816|308832|308833|308835|308837|308838|308839|308840|308841|308844|308845|308850|308853|308854|308860|308862|308864|308868|308870|308877|308879|308880|308897|308899|308900|308903|308907|896856|896857|896859|896860|896861|896863|896865|896866|896867|896868|896876|896877|896878|896879|896880|896881|896882|896883|896884|896885|896886|896887|896888|896889|896890|896891|896892|896893|896894|896895|896896|896897|896898|896899|896900|896901|896902|896903|896904|896905|896906|896907|896908|896909|896910|896911|896912|896913|896914|896915|896916|896917|896918|896919|896920|896921|896922|896923|896924|896925|896926|896927|896928|896929|896930|896931|896932|896933|900270|900272|900273|919062", + "upstreamId": "23617|23618|23619|54297|54298|54299|54300|54301|54303|54305|54307|54311|54318|54320|54321|54322|54325|54326|54327|54330|54331|54333|174004|174012|174013|174017|174141|174147|174149|229508|252537|252538|301048|301058|301062|301064|301072|301077|301081|301083|301088|301089|301092|301100|301102|301106|304036|304046|304047|304050|304053|304054|304065|304068|304086|304096|304100|304103|304104|304105|304111|304112|304113|304114|308739|308766|308771|308776|308797|308798|308799|308809|308810|308815|308816|308832|308833|308835|308837|308838|308839|308840|308841|308844|308845|308850|308853|308854|308860|308862|308864|308868|308870|308877|308879|308880|308897|308899|308900|308903|308907|896856|896857|896859|896860|896861|896863|896865|896866|896867|896868|896876|896877|896878|896879|896880|896881|896882|896883|896884|896885|896886|896887|896888|896889|896890|896891|896892|896893|896894|896895|896896|896897|896898|896899|896900|896901|896902|896903|896904|896905|896906|896907|896908|896909|896910|896911|896912|896913|896914|896915|896916|896917|896918|896919|896920|896921|896922|896923|896924|896925|896926|896927|896928|896929|896930|896931|896932|896933|900270|900272|900273|919062", "text": "Deafness, autosomal recessive 37" }, { - "baseId": "23620", + "upstreamId": "23620", "text": "Sensorineural deafness with hypertrophic cardiomyopathy" }, { - "baseId": "23623|23624|23625|23626|23627|23628|23629|23630|23631|23632|23633|23634|23636|75381|75382|107257|205181|205781|227375|227376|227377|227378|255829|255830|255831|255833|255834|255835|255836|255837|255838|255839|255840|255841|255842|255843|255845|260484|263861|325847|325851|325852|325857|325858|325863|325865|325866|325868|325872|325877|325883|325884|325885|325892|325898|325899|325902|325911|325912|325913|325915|325919|335481|335482|335487|335490|335491|335494|335496|335498|335499|335501|335502|335503|335514|335515|335518|335520|335522|335532|335535|341925|341930|341933|341936|341943|341947|341951|341952|341955|341960|341966|341969|341972|341977|341981|341982|341986|341987|341988|341990|343451|343454|343455|343458|343461|343462|343464|343467|343468|343470|343477|343480|343481|343482|343483|343484|343485|343486|343487|343489|343492|343493|360256|375217|384423|390201|390646|404824|404825|430987|431547|431548|439088|441908|441909|441911|441912|441913|441915|441916|442544|480535|481463|490237|497693|497694|513133|513134|539066|553531|553632|577552|577557|608917|620550|620551|620552|620553|620554|620555|623340|623341|644767|644770|644771|644774|644775|652576|653041|703747|714981|714982|714983|714984|714985|726695|726696|726697|731074|731075|740265|740267|740268|740269|740270|744861|744964|744966|755260|755261|755265|755266|755267|770978|778315|780047|785313|785323|788039|788195|788202|791627|793637|793640|793642|802213|802214|818332|844026|844027|875531|875532|875533|875534|875535|875536|875537|875538|875539|875540|875541|875542|875543|875544|875545|875546|875547|875548|875549|875550|875551|875552|875553|875554|875555|875556|875557|875558|875559|875560|875561|875562|875563|875564|875565|875566|875567|875568|875569|875570|875571|875572|875573|875574|875575|875576|875577|875578|875579|875580|875581|875582|875583|876682|876683|876684|876685|962789|963375|964687|979805|979806|979807|980378|980379", + "upstreamId": "23623|23624|23625|23626|23627|23628|23629|23630|23631|23632|23633|23634|23636|75381|75382|107257|205181|205781|227375|227376|227377|227378|255829|255830|255831|255833|255834|255835|255836|255837|255838|255839|255840|255841|255842|255843|255845|260484|263861|325847|325851|325852|325857|325858|325863|325865|325866|325868|325872|325877|325883|325884|325885|325892|325898|325899|325902|325911|325912|325913|325915|325919|335481|335482|335487|335490|335491|335494|335496|335498|335499|335501|335502|335503|335514|335515|335518|335520|335522|335532|335535|341925|341930|341933|341936|341943|341947|341951|341952|341955|341960|341966|341969|341972|341977|341981|341982|341986|341987|341988|341990|343451|343454|343455|343458|343461|343462|343464|343467|343468|343470|343477|343480|343481|343482|343483|343484|343485|343486|343487|343489|343492|343493|360256|375217|384423|390201|390646|404824|404825|430987|431547|431548|439088|441908|441909|441911|441912|441913|441915|441916|442544|480535|481463|490237|497693|497694|513133|513134|539066|553531|553632|577552|577557|608917|620550|620551|620552|620553|620554|620555|623340|623341|644767|644770|644771|644774|644775|652576|653041|703747|714981|714982|714983|714984|714985|726695|726696|726697|731074|731075|740265|740267|740268|740269|740270|744861|744964|744966|755260|755261|755265|755266|755267|770978|778315|780047|785313|785323|788039|788195|788202|791627|793637|793640|793642|802213|802214|818332|844026|844027|875531|875532|875533|875534|875535|875536|875537|875538|875539|875540|875541|875542|875543|875544|875545|875546|875547|875548|875549|875550|875551|875552|875553|875554|875555|875556|875557|875558|875559|875560|875561|875562|875563|875564|875565|875566|875567|875568|875569|875570|875571|875572|875573|875574|875575|875576|875577|875578|875579|875580|875581|875582|875583|876682|876683|876684|876685|962789|963375|964687|979805|979806|979807|980378|980379", "text": "Familial hypokalemia-hypomagnesemia" }, { - "baseId": "23637|23638|23639|23640|226091|257151|818339", + "upstreamId": "23637|23638|23639|23640|226091|257151|818339", "text": "Branchiootorenal syndrome 2" }, { - "baseId": "23647|23654|45263|45264|45266|45266|45269|45272|45275|45276|51669|51676|51694|51706|51716|51719|51732|51735|51736|51737|51742|51746|51747|51747|51755|51769|51777|51778|51788|51796|51797|51808|51815|51817|51822|51823|51826|51828|51833|51841|51852|51857|51870|51873|51875|51876|51879|51881|51889|51906|51910|51914|51928|51930|51931|51937|51938|51942|51945|51949|51950|51956|51959|51962|51963|51974|51977|51980|51983|75576|75578|142020|165560|171136|171136|171139|171141|171142|171143|171144|171145|174731|174756|174776|174778|175139|175143|175168|175197|179171|179223|179232|179351|179373|186345|314276|320888|326913|326929|326930|326931|326940|326949|327964|327976|327977|371466|372203|372209|374122|404802|415274|419284|461980|462012|504238|526245|609787|617882|623594|623595|676914|676915|676916|868092|868093|868094|868095|868096|868097|868098|868099|868100|868101|868102|868103|868104|868656|868657|868658|947492|964365|966806|970937", + "upstreamId": "23647|23654|45263|45264|45266|45266|45269|45272|45275|45276|51669|51676|51694|51706|51716|51719|51732|51735|51736|51737|51742|51746|51747|51747|51755|51769|51777|51778|51788|51796|51797|51808|51815|51817|51822|51823|51826|51828|51833|51841|51852|51857|51870|51873|51875|51876|51879|51881|51889|51906|51910|51914|51928|51930|51931|51937|51938|51942|51945|51949|51950|51956|51959|51962|51963|51974|51977|51980|51983|75576|75578|142020|165560|171136|171136|171139|171141|171142|171143|171144|171145|174731|174756|174776|174778|175139|175143|175168|175197|179171|179223|179232|179351|179373|186345|314276|320888|326913|326929|326930|326931|326940|326949|327964|327976|327977|371466|372203|372209|374122|404802|415274|419284|461980|462012|504238|526245|609787|617882|623594|623595|676914|676915|676916|868092|868093|868094|868095|868096|868097|868098|868099|868100|868101|868102|868103|868104|868656|868657|868658|947492|964365|966806|970937", "text": "Left ventricular noncompaction 10" }, { - "baseId": "23659", + "upstreamId": "23659", "text": "Cardiomyopathy, familial hypertrophic, 4, susceptibility to" }, { - "baseId": "23661|23662|23663|23664", + "upstreamId": "23661|23662|23663|23664", "text": "Persistent mullerian duct syndrome, type I" }, { - "baseId": "23665|23666|23667|23668", + "upstreamId": "23665|23666|23667|23668", "text": "Persistent mullerian duct syndrome, type II" }, { - "baseId": "23669|416849", + "upstreamId": "23669|416849", "text": "Sleep-wake schedule disorder, delayed phase type" }, { - "baseId": "23670|23671|23672|23673|23674|23676|23676|23676|23678|23679|23680|23681|23682|23684|23687|23691|23692|23693|23694|23695|23696|23697|23698|23699|23701|23702|195212|195559|251969|251970|251971|265332|265333|265893|297646|297650|297653|297654|297655|297656|297663|297666|297670|297676|297677|299846|299851|299858|299860|299861|299864|299867|303980|303992|303993|303994|303996|304005|304007|304011|304012|304016|304017|304018|304027|304038|304048|304049|304376|304381|304382|304383|304390|304391|304397|304398|304400|304404|304407|384481|485736|485737|485738|585165|691861|721467|749517|798561|857407|894387|894388|894389|894390|894391|894392|894393|894394|894395|894396|894397|894398|894399|894400|894401|894402|894403|894404|894405|894406|894407|894408|894409|894410|894411|894412|894413|894414|894415|894416|894417|894418|896112|896113", + "upstreamId": "23670|23671|23672|23673|23674|23676|23676|23676|23678|23679|23680|23681|23682|23684|23687|23691|23692|23693|23694|23695|23696|23697|23698|23699|23701|23702|195212|195559|251969|251970|251971|265332|265333|265893|297646|297650|297653|297654|297655|297656|297663|297666|297670|297676|297677|299846|299851|299858|299860|299861|299864|299867|303980|303992|303993|303994|303996|304005|304007|304011|304012|304016|304017|304018|304027|304038|304048|304049|304376|304381|304382|304383|304390|304391|304397|304398|304400|304404|304407|384481|485736|485737|485738|585165|691861|721467|749517|798561|857407|894387|894388|894389|894390|894391|894392|894393|894394|894395|894396|894397|894398|894399|894400|894401|894402|894403|894404|894405|894406|894407|894408|894409|894410|894411|894412|894413|894414|894415|894416|894417|894418|896112|896113", "text": "Laron-type isolated somatotropin defect" }, { - "baseId": "23675|23676|23676|23676|23677|23685|23691|195559|227287|248683|265893|290296|293367|293823|353646|918966|918967", + "upstreamId": "23675|23676|23676|23676|23677|23685|23691|195559|227287|248683|265893|290296|293367|293823|353646|918966|918967", "text": "Short stature, idiopathic, autosomal" }, { - "baseId": "23683|23689", + "upstreamId": "23683|23689", "text": "Laron syndrome with elevated serum GH-binding protein" }, { - "baseId": "23686|23688|23690", + "upstreamId": "23686|23688|23690", "text": "Laron syndrome with undetectable serum GH-binding protein" }, { - "baseId": "23700", + "upstreamId": "23700", "text": "Increased responsiveness to growth hormone" }, { - "baseId": "23703|32152|32153|192304|791023", + "upstreamId": "23703|32152|32153|192304|791023", "text": "Preterm premature rupture of membranes" }, { - "baseId": "23704|23712|23713|23714|23716|23717|23722|23722|23723|23725|23725|45093|168861|168862|168863|168866|168867|168870|168871|168875|168876|207828|207829|207832|207833|207834|207835|207839|207840|207840|244019|254062|269280|272064|313371|313372|313374|313375|313377|313379|313383|313385|313386|313387|319461|319463|319464|319466|319467|319469|319470|319474|319475|319487|319489|319490|319491|325610|325613|325623|325624|325625|325626|326645|326649|326650|326654|326655|326656|326657|326666|429186|429187|429189|545817|545820|545824|545826|545832|545841|546115|546116|546118|546118|546120|546120|546122|546127|546130|546134|546170|546173|546178|546187|546188|546193|546194|546201|546452|546454|546456|546458|546460|682320|783918|867601|867602|867603|867604|867605|867606|867607|867608|867609|867610|867611|867612|867613|976872", + "upstreamId": "23704|23712|23713|23714|23716|23717|23722|23722|23723|23725|23725|45093|168861|168862|168863|168866|168867|168870|168871|168875|168876|207828|207829|207832|207833|207834|207835|207839|207840|207840|244019|254062|269280|272064|313371|313372|313374|313375|313377|313379|313383|313385|313386|313387|319461|319463|319464|319466|319467|319469|319470|319474|319475|319487|319489|319490|319491|325610|325613|325623|325624|325625|325626|326645|326649|326650|326654|326655|326656|326657|326666|429186|429187|429189|545817|545820|545824|545826|545832|545841|546115|546116|546118|546118|546120|546120|546122|546127|546130|546134|546170|546173|546178|546187|546188|546193|546194|546201|546452|546454|546456|546458|546460|682320|783918|867601|867602|867603|867604|867605|867606|867607|867608|867609|867610|867611|867612|867613|976872", "text": "Islet cell hyperplasia" }, { - "baseId": 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+ "upstreamId": "23705|23706|23707|23708|23709|23710|23711|23715|23717|23718|23719|23722|23724|23725|24127|24141|24142|24143|24144|24146|24147|24148|24150|28426|28427|28428|31180|33927|33928|33929|33930|33966|33967|33969|33970|33972|33974|33975|33976|34017|34018|34019|34020|34021|34022|34045|34046|34047|34048|34049|34050|34051|34052|34053|34054|34055|34056|34057|39080|44267|44269|44273|44274|44278|44282|44288|44864|44866|44870|44872|44877|44886|44899|44906|44907|76489|76495|76496|79618|79621|79622|79623|79624|79625|134590|134593|135501|167529|167530|167532|167533|167534|167535|167536|167537|167539|167540|167543|167545|167546|167547|167550|167551|167553|167554|167555|168861|168863|168866|168867|168870|168870|168871|168875|168875|186812|186816|186819|190275|192808|207485|207828|207839|207840|207840|207850|207852|207853|207853|207854|207862|227344|252883|252884|254064|254068|254069|259865|269280|272064|303069|303070|303071|303072|303073|303074|306341|306342|306345|306346|306347|306348|310058|311169|311170|311172|311173|311302|311303|311306|311310|311312|313377|313386|313388|313389|313393|313399|313403|313405|313413|313414|313416|313419|313421|315653|315654|319492|319496|319498|319499|319504|319505|319511|319514|319516|319517|319521|319522|319523|319524|319528|321111|325626|325627|325629|325632|325633|325634|325635|325636|325642|325643|325644|325650|325651|326665|326666|326668|326673|326677|326678|326698|326700|326703|353177|380248|380249|424956|424957|424958|424959|424960|428730|428735|428737|428738|429186|429199|429201|429203|429208|429208|441126|441408|487507|545817|545820|545824|545826|545832|545841|545867|546115|546116|546118|546118|546120|546120|546122|546127|546130|546134|546170|546173|546178|546187|546188|546193|546194|546201|546326|546452|546454|546456|546458|546460|546501|576978|577180|614519|620396|692972|737885|752574|759683|768328|783918|783925|783933|867614|867615|867616|867617|867618|867619|867620|867621|867622|867623|867624|867625|867626|867627|867628|867629|867630|867631|867632|867633|867634|867635|868624|868625|868626|868627|868628|868629|898116|898117|898118|898119|898120|898121|898122|898123|898124|898125|898126|898127|898128|898129|898130|898131|898132|898133|898134|900365|900366|900367|900368|920296|961285|978877|978878|978879|978880|978881|978882|978883|978884|978885|978886|978887|978888|978889|978890|978891", "text": "Permanent neonatal diabetes mellitus" }, { - "baseId": "23705|23715|23717|23720|23721|23722|23722|23725|45093|168861|168862|168863|168866|168867|168870|168871|168875|207828|207829|207832|207835|207839|207840|254062|269280|272064|313371|313372|313374|313375|313377|313379|313383|313385|313386|313387|319461|319463|319464|319466|319467|319469|319470|319474|319475|319487|319489|319490|319491|325610|325613|325623|325624|325625|325626|326645|326649|326650|326654|326655|326656|326657|326666|429186|545817|545820|545824|545826|545832|545841|546115|546116|546118|546120|546120|546122|546127|546130|546134|546170|546173|546178|546187|546188|546193|546194|546201|546452|546454|546456|546458|546460|783918|867601|867602|867603|867604|867605|867606|867607|867608|867609|867610|867611|867612|867613", + "upstreamId": "23705|23715|23717|23720|23721|23722|23722|23725|45093|168861|168862|168863|168866|168867|168870|168871|168875|207828|207829|207832|207835|207839|207840|254062|269280|272064|313371|313372|313374|313375|313377|313379|313383|313385|313386|313387|319461|319463|319464|319466|319467|319469|319470|319474|319475|319487|319489|319490|319491|325610|325613|325623|325624|325625|325626|326645|326649|326650|326654|326655|326656|326657|326666|429186|545817|545820|545824|545826|545832|545841|546115|546116|546118|546120|546120|546122|546127|546130|546134|546170|546173|546178|546187|546188|546193|546194|546201|546452|546454|546456|546458|546460|783918|867601|867602|867603|867604|867605|867606|867607|867608|867609|867610|867611|867612|867613", "text": "Transient neonatal diabetes mellitus 3" }, { - "baseId": "23705|23706|34056|168872|168873|168879", + "upstreamId": "23705|23706|34056|168872|168873|168879", "text": "Neonatal insulin-dependent diabetes mellitus" }, { - "baseId": "23705|23706|23707|23708|23709|23710|23711|23718|23719|23724|39091", + "upstreamId": "23705|23706|23707|23708|23709|23710|23711|23718|23719|23724|39091", "text": "Permanent neonatal diabetes mellitus 2" }, { - "baseId": "23715|23717|23722|23725|45093|168861|168862|168863|168866|168867|168869|168871|207829|207835|207839|254062|313371|313372|313374|313375|313377|313379|313383|313385|313386|313387|319461|319463|319464|319466|319467|319469|319470|319474|319475|319487|319489|319490|319491|325610|325613|325623|325624|325625|325626|326645|326649|326650|326654|326655|326656|326657|326666|429186|472261|546118|546120|609051|783918|867601|867602|867603|867604|867605|867606|867607|867608|867609|867610|867611|867612|867613", + "upstreamId": "23715|23717|23722|23725|45093|168861|168862|168863|168866|168867|168869|168871|207829|207835|207839|254062|313371|313372|313374|313375|313377|313379|313383|313385|313386|313387|319461|319463|319464|319466|319467|319469|319470|319474|319475|319487|319489|319490|319491|325610|325613|325623|325624|325625|325626|326645|326649|326650|326654|326655|326656|326657|326666|429186|472261|546118|546120|609051|783918|867601|867602|867603|867604|867605|867606|867607|867608|867609|867610|867611|867612|867613", "text": "Maturity-onset diabetes of the young, type 13" }, { - "baseId": "23717", + "upstreamId": "23717", "text": "Exercise stress response, impaired, association with" }, { - "baseId": "23717|167530|167546|167547|167553|167554|207839|313386|315653|315654|319521|325611|325626|326665|326666|353177", + "upstreamId": "23717|167530|167546|167547|167553|167554|207839|313386|315653|315654|319521|325611|325626|326665|326666|353177", "text": "Transient Neonatal Diabetes, Dominant" }, { - "baseId": "23717|167530|167546|167547|167553|167554|207839|291890|291906|293300|296582|313386|315653|315654|319521|325611|325626|326665|326666|353177", + "upstreamId": "23717|167530|167546|167547|167553|167554|207839|291890|291906|293300|296582|313386|315653|315654|319521|325611|325626|326665|326666|353177", "text": "Hyperinsulinism, Dominant/Recessive" }, { - "baseId": "23717|23898|28830|44907|44922|45013|45024|45028|45062|134685|134725|135320|135321|135322|135323|135324|167553|167554|207839|254105|254106|254108|260011|281440|281448|281466|281475|283468|283470|283487|283606|284160|284163|284164|284170|286078|286435|286436|301722|301723|301731|301737|301739|301740|301741|301753|301755|301757|301762|301763|301764|301774|301783|303948|303950|303951|303954|304936|304937|304938|304942|304943|306342|306348|307485|307487|307497|307498|307499|307637|309560|309561|309562|309563|309570|309571|309580|309581|309590|309591|309592|309685|309687|309705|309707|309738|309742|309746|309748|309758|309759|312503|312521|312557|312598|313386|313632|319828|325611|325626|325998|326005|326665|326666|326978|326979|326982|326983|329687|335448|335486|335509|335512|335513|335524|345258|345295|345298|349979|349993|350002|350003|350004|351012|351014|351015|351017|351019|351023|353805|425758|429380|444135|513905|613078|623485|623492|623543|790136|791984|800974|917106|961106|961107|961108|975843", + "upstreamId": "23717|23898|28830|44907|44922|45013|45024|45028|45062|134685|134725|135320|135321|135322|135323|135324|167553|167554|207839|254105|254106|254108|260011|281440|281448|281466|281475|283468|283470|283487|283606|284160|284163|284164|284170|286078|286435|286436|301722|301723|301731|301737|301739|301740|301741|301753|301755|301757|301762|301763|301764|301774|301783|303948|303950|303951|303954|304936|304937|304938|304942|304943|306342|306348|307485|307487|307497|307498|307499|307637|309560|309561|309562|309563|309570|309571|309580|309581|309590|309591|309592|309685|309687|309705|309707|309738|309742|309746|309748|309758|309759|312503|312521|312557|312598|313386|313632|319828|325611|325626|325998|326005|326665|326666|326978|326979|326982|326983|329687|335448|335486|335509|335512|335513|335524|345258|345295|345298|349979|349993|350002|350003|350004|351012|351014|351015|351017|351019|351023|353805|425758|429380|444135|513905|613078|623485|623492|623543|790136|791984|800974|917106|961106|961107|961108|975843", "text": "Maturity onset diabetes mellitus in young" }, { - "baseId": "23717", + "upstreamId": "23717", "text": "glibenclamide response - Efficacy" }, { - "baseId": "23717", + "upstreamId": "23717", "text": "gliclazide response - Efficacy" }, { - "baseId": "23717", + "upstreamId": "23717", "text": "glimepiride response - Efficacy" }, { - "baseId": "23717", + "upstreamId": "23717", "text": "glipizide response - Efficacy" }, { - "baseId": "23717", + "upstreamId": "23717", "text": "gliquidone response - Efficacy" }, { - "baseId": "23726|337705|347271|347273|347275|351269|351271|351274|352326|352327|352328|352329|352330|352331|410924|417542|417543|470923|471814|571755|575223|620685|649231|786566|891024|891025|891026|891027|891028|891029|891030|891031|891032|891033|891816|891817", + "upstreamId": "23726|337705|347271|347273|347275|351269|351271|351274|352326|352327|352328|352329|352330|352331|410924|417542|417543|470923|471814|571755|575223|620685|649231|786566|891024|891025|891026|891027|891028|891029|891030|891031|891032|891033|891816|891817", "text": "Cataract, congenital nuclear, autosomal recessive 3" }, { - "baseId": "23730|211701|211704|414710|550030|653889|653917|919613", + "upstreamId": "23730|211701|211704|414710|550030|653889|653917|919613", "text": "Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay" }, { - "baseId": "23731|23732|23733|23734|23735|23736|23738|23739|23743|187104|276880|276887|276890|277167|277169|277170|277173|277832|277833|277834|277835|277852|277854|277855|277862|277865|277866|277867|277892|277893|277895|277908|277910|277917|550200|612175|862578|862579|862580|862581|862582|862583|862584|862585|903502|964734", + "upstreamId": "23731|23732|23733|23734|23735|23736|23738|23739|23743|187104|276880|276887|276890|277167|277169|277170|277173|277832|277833|277834|277835|277852|277854|277855|277862|277865|277866|277867|277892|277893|277895|277908|277910|277917|550200|612175|862578|862579|862580|862581|862582|862583|862584|862585|903502|964734", "text": "Variegate porphyria" }, { - "baseId": "23737|23740|23741|23742|23743", + "upstreamId": "23737|23740|23741|23742|23743", "text": "Variegate porphyria, homozygous" }, { - "baseId": "23744|319152|319157|319162|319163|319165|319175|319176|319187|319191|319192|319196|319197|319199|319200|319206|319207|319208|319211|327614|327626|327645|327652|327654|327658|327667|327668|327686|327701|327703|327705|327706|327707|327709|333889|333908|333914|333915|333955|333958|333963|333968|333977|333997|334003|334007|335581|335583|335588|335593|335609|335612|335615|335617|335618|438515|870860|870861|870862|870863|870864|870865|870866|870867|870868|870869|870870|870871|870872|870873|870874|870875|870876|870877|870878|870879|870880|870881|870882|870883|870884|870885|870886|870887|872319", + "upstreamId": "23744|319152|319157|319162|319163|319165|319175|319176|319187|319191|319192|319196|319197|319199|319200|319206|319207|319208|319211|327614|327626|327645|327652|327654|327658|327667|327668|327686|327701|327703|327705|327706|327707|327709|333889|333908|333914|333915|333955|333958|333963|333968|333977|333997|334003|334007|335581|335583|335588|335593|335609|335612|335615|335617|335618|438515|870860|870861|870862|870863|870864|870865|870866|870867|870868|870869|870870|870871|870872|870873|870874|870875|870876|870877|870878|870879|870880|870881|870882|870883|870884|870885|870886|870887|872319", "text": "Multiple synostoses syndrome 3" }, { - "baseId": "23745|28354|28628|29976|38716", + "upstreamId": "23745|28354|28628|29976|38716", "text": "Insulin resistance, susceptibility to" }, { - "baseId": "23746", + "upstreamId": "23746", "text": "Insulin resistance, severe, digenic" }, { - "baseId": "23747", + "upstreamId": "23747", "text": "Glycemia variation" }, { - "baseId": "23748|23749|23750|138069|138070|138072|138073|138075|138077|138079|138080|138081|138082|138083|138084|207415|207416|221630|223359|239903|239904|252337|252339|299918|299920|299921|299922|299926|299928|299933|302569|302571|302575|302588|306947|306958|306960|306962|306963|306982|306986|306987|307217|307223|307226|307227|395115|395252|395253|395255|395259|395263|395267|395457|395461|395715|395729|395735|428630|455563|455569|455571|455576|455709|455719|455725|455731|455737|456143|456146|456154|456386|456388|456396|456398|456401|496868|521628|521629|521930|521934|521936|521975|521977|521991|522303|522305|522307|560702|560704|560706|560808|563545|563547|634870|634871|634872|634873|634874|634875|634876|634877|651552|685194|686837|790621|831869|831870|831871|831872|831873|831874|831875|831876|831877|831878|831879|895853|895854|895855|895856|895857|895858|895859|895860|895861|895862|895863|895864|895865|896232|896233|896234|904102|917888|917889|917892|917893|917897|917898|917900|924344|924345|924346|924347|933306|933307|933308|944992|944993|944994|944995|944996|944997|944998|960581", + "upstreamId": "23748|23749|23750|138069|138070|138072|138073|138075|138077|138079|138080|138081|138082|138083|138084|207415|207416|221630|223359|239903|239904|252337|252339|299918|299920|299921|299922|299926|299928|299933|302569|302571|302575|302588|306947|306958|306960|306962|306963|306982|306986|306987|307217|307223|307226|307227|395115|395252|395253|395255|395259|395263|395267|395457|395461|395715|395729|395735|428630|455563|455569|455571|455576|455709|455719|455725|455731|455737|456143|456146|456154|456386|456388|456396|456398|456401|496868|521628|521629|521930|521934|521936|521975|521977|521991|522303|522305|522307|560702|560704|560706|560808|563545|563547|634870|634871|634872|634873|634874|634875|634876|634877|651552|685194|686837|790621|831869|831870|831871|831872|831873|831874|831875|831876|831877|831878|831879|895853|895854|895855|895856|895857|895858|895859|895860|895861|895862|895863|895864|895865|896232|896233|896234|904102|917888|917889|917892|917893|917897|917898|917900|924344|924345|924346|924347|933306|933307|933308|944992|944993|944994|944995|944996|944997|944998|960581", "text": "Fanconi anemia, complementation group E" }, { - "baseId": "23751|23752|23753|23754|23755|23756|23757|23758|23759|51200|98566|98567|98568|98569|190229|251489|266358|266485|266486|267097|267280|267694|268373|268725|268739|269058|269397|269417|269986|270198|272142|272512|272523|273339|298590|298630|357354|357355|357356|357357|357358|357359|357360|406439|443616|452824|453224|453592|453595|453954|453958|453960|453976|453980|453986|489686|490406|490617|493575|500997|514497|519667|519948|519960|520213|520214|520217|543118|543120|543124|543126|543413|543418|543419|543421|543422|543424|543426|543428|543430|543432|543502|543508|559701|562028|563343|563741|563760|563765|587456|588486|632236|632237|632238|632239|632240|632241|632242|651157|651176|698542|698543|734657|748960|781965|787255|790476|790477|799361|802152|819484|829201|829202|829203|829204|829205|829206|829207|850988|932363|932364|932365|978098", + "upstreamId": "23751|23752|23753|23754|23755|23756|23757|23758|23759|51200|98566|98567|98568|98569|190229|251489|266358|266485|266486|267097|267280|267694|268373|268725|268739|269058|269397|269417|269986|270198|272142|272512|272523|273339|298590|298630|357354|357355|357356|357357|357358|357359|357360|406439|443616|452824|453224|453592|453595|453954|453958|453960|453976|453980|453986|489686|490406|490617|493575|500997|514497|519667|519948|519960|520213|520214|520217|543118|543120|543124|543126|543413|543418|543419|543421|543422|543424|543426|543428|543430|543432|543502|543508|559701|562028|563343|563741|563760|563765|587456|588486|632236|632237|632238|632239|632240|632241|632242|651157|651176|698542|698543|734657|748960|781965|787255|790476|790477|799361|802152|819484|829201|829202|829203|829204|829205|829206|829207|850988|932363|932364|932365|978098", "text": "Autosomal recessive limb-girdle muscular dystrophy type 2E" }, { - "baseId": "23760|23761|23762|23763|23764|23765|23766|79357|213977|213979|249384|276318|276319|276546|276547|277014|277022|277025|277112|277113|277114|277115|277116|277117|277120|353059|353060|417647|439651|447089|447177|556590|558106|558108|626786|626787|626788|626789|690358|696060|761170|818813|822676|822677|822678|822679|822680|822681|862183|862184|862185|862186|862187|862188|862189|862190|862191|862192|862193|862194|862195|864973|921624|930022|964127", + "upstreamId": "23760|23761|23762|23763|23764|23765|23766|79357|213977|213979|249384|276318|276319|276546|276547|277014|277022|277025|277112|277113|277114|277115|277116|277117|277120|353059|353060|417647|439651|447089|447177|556590|558106|558108|626786|626787|626788|626789|690358|696060|761170|818813|822676|822677|822678|822679|822680|822681|862183|862184|862185|862186|862187|862188|862189|862190|862191|862192|862193|862194|862195|864973|921624|930022|964127", "text": "Cataract 1" }, { - "baseId": 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+ "upstreamId": 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"text": "Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency" }, { - "baseId": "23767|285637|286351|286383|288678|288679|288705|289060|289091", + "upstreamId": "23767|285637|286351|286383|288678|288679|288705|289060|289091", "text": "LCHAD Deficiency" }, { - "baseId": "23767|23767|23768|23769|23770|23770|23771|23771|23772|23773|23774|23775|23775|23776|23776|29883|29884|29885|29886|29887|29888|98501|98503|98503|98504|98505|98507|98508|141234|141235|141236|186664|186665|186666|186668|188207|190727|191487|199996|199996|199998|199998|200001|200006|200007|200008|200009|227239|227240|237024|237465|237465|247460|285635|285637|285639|285645|285645|285653|285654|285655|285656|285661|285667|285685|285695|285696|286343|286349|286351|286352|286363|286363|286381|286381|286382|286383|286384|286385|286388|286389|288651|288661|288665|288666|288666|288674|288677|288678|288679|288705|288706|288713|288720|289054|289055|289060|289069|289070|289070|289074|289076|289076|289078|289078|289082|289090|289090|289091|289093|289111|289112|289113|289114|289128|289137|357251|357259|357262|367169|367169|405702|421380|425486|443224|443225|443227|443228|450665|450763|450766|486890|493318|499642|499645|499872|499872|499884|500072|500072|500095|500112|513524|518006|518053|518057|518137|538967|541963|542088|542232|557986|557986|558338|558340|560555|561248|561250|578402|590269|620078|629757|629758|629759|629760|629761|629762|629763|629763|629764|650766|650949|650999|676958|691112|691112|691113|691114|691116|691117|695138|719794|733384|733384|733386|733387|733388|733389|743934|747518|747519|747520|763133|763137|763139|763142|763142|774695|774725|774733|781274|781275|781279|781280|781282|790224|790225|790226|804738|819149|821879|826117|826118|826119|826120|826121|826122|826123|851170|851414|851416|858432|884467|884468|884469|884470|884471|884472|884473|884474|884475|884476|884477|884478|884479|884480|884482|884483|884484|884485|884486|884487|884488|884489|884490|887336|887337|887338|904870|904947|922678|922679|922680|922681|931264|940704|940705|942747|942748|953023|953024|960469|961233|961234|961235|966348|971793|971794|971795|971796|971797|971798|971799|971800|971801|971802|971803|971804", + "upstreamId": "23767|23767|23768|23769|23770|23770|23771|23771|23772|23773|23774|23775|23775|23776|23776|29883|29884|29885|29886|29887|29888|98501|98503|98503|98504|98505|98507|98508|141234|141235|141236|186664|186665|186666|186668|188207|190727|191487|199996|199996|199998|199998|200001|200006|200007|200008|200009|227239|227240|237024|237465|237465|247460|285635|285637|285639|285645|285645|285653|285654|285655|285656|285661|285667|285685|285695|285696|286343|286349|286351|286352|286363|286363|286381|286381|286382|286383|286384|286385|286388|286389|288651|288661|288665|288666|288666|288674|288677|288678|288679|288705|288706|288713|288720|289054|289055|289060|289069|289070|289070|289074|289076|289076|289078|289078|289082|289090|289090|289091|289093|289111|289112|289113|289114|289128|289137|357251|357259|357262|367169|367169|405702|421380|425486|443224|443225|443227|443228|450665|450763|450766|486890|493318|499642|499645|499872|499872|499884|500072|500072|500095|500112|513524|518006|518053|518057|518137|538967|541963|542088|542232|557986|557986|558338|558340|560555|561248|561250|578402|590269|620078|629757|629758|629759|629760|629761|629762|629763|629763|629764|650766|650949|650999|676958|691112|691112|691113|691114|691116|691117|695138|719794|733384|733384|733386|733387|733388|733389|743934|747518|747519|747520|763133|763137|763139|763142|763142|774695|774725|774733|781274|781275|781279|781280|781282|790224|790225|790226|804738|819149|821879|826117|826118|826119|826120|826121|826122|826123|851170|851414|851416|858432|884467|884468|884469|884470|884471|884472|884473|884474|884475|884476|884477|884478|884479|884480|884482|884483|884484|884485|884486|884487|884488|884489|884490|887336|887337|887338|904870|904947|922678|922679|922680|922681|931264|940704|940705|942747|942748|953023|953024|960469|961233|961234|961235|966348|971793|971794|971795|971796|971797|971798|971799|971800|971801|971802|971803|971804", "text": "Mitochondrial trifunctional protein deficiency" }, { - "baseId": "23767|186668|620077", + "upstreamId": "23767|186668|620077", "text": "HADHA-Related Disorders" }, { - "baseId": "23767|23770|98503|98504|186666|186667|186668|199996|199998|200001|237465|280428|289070|289076|366520|442783|443224|558338|609478|627626|629763|650949|691112|691114|695138|733384|733386|733389|747519|761784|761791|763133|763141|774733|781274|781282|821879|977710|977711", + "upstreamId": "23767|23770|98503|98504|186666|186667|186668|199996|199998|200001|237465|280428|289070|289076|366520|442783|443224|558338|609478|627626|629763|650949|691112|691114|695138|733384|733386|733389|747519|761784|761791|763133|763141|774733|781274|781282|821879|977710|977711", "text": "Deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase" }, { - "baseId": "23767", + "upstreamId": "23767", "text": "Lchad deficiency with maternal acute fatty liver of pregnancy" }, { - "baseId": "23777|247771|247772|247773|576119|699196|710050|790565", + "upstreamId": "23777|247771|247772|247773|576119|699196|710050|790565", "text": "Familial adenomatous polyposis 4" }, { - "baseId": "23778|23779|250019|250021|250022|250023|250024|250026|281292|281300|281927|281937|283195|283196|283214|283368|427867|448253|448256|448376|516131|516242|557380|557427|628276|628277|628278|628279|732642|732643|732644|743773|762094|777112|778922|787070|790000|790001|824431|824432|824433|824434|922165|922166|922167|922168|922169|930668|942107|952528|952529", + "upstreamId": "23778|23779|250019|250021|250022|250023|250024|250026|281292|281300|281927|281937|283195|283196|283214|283368|427867|448253|448256|448376|516131|516242|557380|557427|628276|628277|628278|628279|732642|732643|732644|743773|762094|777112|778922|787070|790000|790001|824431|824432|824433|824434|922165|922166|922167|922168|922169|930668|942107|952528|952529", "text": "Severe congenital neutropenia 2, autosomal dominant" }, { - "baseId": "23779", + "upstreamId": "23779", "text": "Neutropenia, nonimmune chronic idiopathic, of adults" }, { - "baseId": "23780|59460", + "upstreamId": "23780|59460", "text": "Advanced sleep phase syndrome, familial, 2" }, { - "baseId": 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"text": "Paragangliomas 5" }, { - "baseId": "23784|152315|170202|221618|226826|233454|233464|239799|239817|247308|247310|247314|358794|395181|395198|395510|434601|455549|455768|474379|474386|563125", + "upstreamId": "23784|152315|170202|221618|226826|233454|233464|239799|239817|247308|247310|247314|358794|395181|395198|395510|434601|455549|455768|474379|474386|563125", "text": "Dilated cardiomyopathy 1GG" }, { - "baseId": "23789|24120|24121|24122|538927", + "upstreamId": "23789|24120|24121|24122|538927", "text": "Platelet-type bleeding disorder 8" }, { - "baseId": "23790|227241|227242", + "upstreamId": "23790|227241|227242", "text": "Fasting plasma glucose level quantitative trait locus 5" }, { - "baseId": "23791|23792|23793|23794|23795|75371|213636|255250|255252|260798|260799|322699|322700|322703|322705|322715|322717|322721|332190|332194|332196|332200|332203|332204|332211|332212|332214|332215|332218|332219|332223|332226|332230|339166|339175|339176|339178|339180|339185|339186|339191|339194|339199|339202|339213|340664|340667|340668|340671|340674|340675|340677|340678|340681|340682|340688|340689|380138|380139|380140|380141|380142|438763|513630|577394|577397|612178|703235|714471|714472|726113|739654|770195|873668|873669|873670|873671|873672|873673|873674|873675|873676|873677|873678|873679|873680|873681|873682|873683|873684|873685|873686|873687|873688|873689|873690|873691|873692|873693|873694|873695|873696|873697|873698|873699|873700|873701|876528|876529|876530|876531|876532|919571|964421", + "upstreamId": "23791|23792|23793|23794|23795|75371|213636|255250|255252|260798|260799|322699|322700|322703|322705|322715|322717|322721|332190|332194|332196|332200|332203|332204|332211|332212|332214|332215|332218|332219|332223|332226|332230|339166|339175|339176|339178|339180|339185|339186|339191|339194|339199|339202|339213|340664|340667|340668|340671|340674|340675|340677|340678|340681|340682|340688|340689|380138|380139|380140|380141|380142|438763|513630|577394|577397|612178|703235|714471|714472|726113|739654|770195|873668|873669|873670|873671|873672|873673|873674|873675|873676|873677|873678|873679|873680|873681|873682|873683|873684|873685|873686|873687|873688|873689|873690|873691|873692|873693|873694|873695|873696|873697|873698|873699|873700|873701|876528|876529|876530|876531|876532|919571|964421", "text": "Bartter syndrome, type 1, antenatal" }, { - "baseId": "23796|327848|327851|327854|327857|327861|327864|337667|337669|337670|337678|337683|337686|337689|337692|337693|337694|337696|337699|343882|343886|343887|343889|343892|343897|343905|343910|343911|343915|343919|345342|345346|345349|345350|345351|345352|345355|345362|345363|374905|375811|375829|409857|409858|433583|466389|467375|467488|467494|467497|467499|530637|530641|530647|530809|530810|530900|530908|531172|568759|570821|570823|570825|570912|570913|574340|574341|584763|614433|614434|645402|645403|645404|645405|645406|645407|645408|645409|645410|645411|645412|645413|645414|645415|645416|645417|645418|645419|645420|645421|645422|645423|645424|645425|645426|645427|645428|704048|715320|740660|740661|771331|771332|815776|815777|815778|815779|820993|844803|844804|844805|844806|844807|844808|844809|844810|844811|844812|844813|844814|844815|844816|844817|844818|844819|844820|844821|844822|844823|844824|844825|844826|844827|844828|844829|857632|877066|877067|877068|877069|877070|877071|877072|877073|877074|877075|877076|877077|877078|877079|877080|877081|877082|877083|880488|880489|880490|928089|928090|937751|937752|937753|937754|949738|949739|949740|949741|949742|949743|949744|949745|949746|949747|958010|958011", + "upstreamId": "23796|327848|327851|327854|327857|327861|327864|337667|337669|337670|337678|337683|337686|337689|337692|337693|337694|337696|337699|343882|343886|343887|343889|343892|343897|343905|343910|343911|343915|343919|345342|345346|345349|345350|345351|345352|345355|345362|345363|374905|375811|375829|409857|409858|433583|466389|467375|467488|467494|467497|467499|530637|530641|530647|530809|530810|530900|530908|531172|568759|570821|570823|570825|570912|570913|574340|574341|584763|614433|614434|645402|645403|645404|645405|645406|645407|645408|645409|645410|645411|645412|645413|645414|645415|645416|645417|645418|645419|645420|645421|645422|645423|645424|645425|645426|645427|645428|704048|715320|740660|740661|771331|771332|815776|815777|815778|815779|820993|844803|844804|844805|844806|844807|844808|844809|844810|844811|844812|844813|844814|844815|844816|844817|844818|844819|844820|844821|844822|844823|844824|844825|844826|844827|844828|844829|857632|877066|877067|877068|877069|877070|877071|877072|877073|877074|877075|877076|877077|877078|877079|877080|877081|877082|877083|880488|880489|880490|928089|928090|937751|937752|937753|937754|949738|949739|949740|949741|949742|949743|949744|949745|949746|949747|958010|958011", "text": "T-cell immunodeficiency, congenital alopecia, and nail dystrophy" }, { - "baseId": "23796|409854|409857|645411|645419|815782", + "upstreamId": "23796|409854|409857|645411|645419|815782", "text": "T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant" }, { - "baseId": "23797|23798|23799|23800|174418|193441|297487|297489|297490|297492|297496|297498|297499|297504|297509|297511|297512|297517|299630|299632|299644|299645|299646|299648|299650|299651|299654|299660|299667|299669|299670|299671|303756|303764|303769|303770|304145|304146|304148|304151|304152|304153|304160|304161|304162|304170|304172|304173|304174|304175|304177|304198|654382|894265|894266|894267|894268|894269|894270|894271|894272|894273|894274|894275|894276|894277|894278|894279|894280|894281|894282|894283|894284|894285|894286|894287|894288|894289|894290|894291|894292|896107|918964|918965", + "upstreamId": "23797|23798|23799|23800|174418|193441|297487|297489|297490|297492|297496|297498|297499|297504|297509|297511|297512|297517|299630|299632|299644|299645|299646|299648|299650|299651|299654|299660|299667|299669|299670|299671|303756|303764|303769|303770|304145|304146|304148|304151|304152|304153|304160|304161|304162|304170|304172|304173|304174|304175|304177|304198|654382|894265|894266|894267|894268|894269|894270|894271|894272|894273|894274|894275|894276|894277|894278|894279|894280|894281|894282|894283|894284|894285|894286|894287|894288|894289|894290|894291|894292|896107|918964|918965", "text": "Hirschsprung disease 3" }, { - "baseId": "23797", + "upstreamId": "23797", "text": "Pheochromocytoma, modifier of" }, { - "baseId": "23802|101244|101245|101246|177925|191918|194429|213603|253915|253916|253917|253919|253920|253921|253922|253923|253924|269507|311682|311689|311693|311696|311707|311708|311713|317261|317262|317267|317268|317273|317276|317288|317289|317290|323308|323311|323312|323313|323317|323318|323319|323326|323327|323330|323331|323335|323880|323890|323892|323893|323894|323911|323919|512922|512923|590299|791016|818284|818285|866560|866561|866562|866563|866564|866565|866566|866567|866568|866569|866570|866571|866572|866573|866574|866575|866576|866577|866578|866579|866580|868535|868536|868537", + "upstreamId": "23802|101244|101245|101246|177925|191918|194429|213603|253915|253916|253917|253919|253920|253921|253922|253923|253924|269507|311682|311689|311693|311696|311707|311708|311713|317261|317262|317267|317268|317273|317276|317288|317289|317290|323308|323311|323312|323313|323317|323318|323319|323326|323327|323330|323331|323335|323880|323890|323892|323893|323894|323911|323919|512922|512923|590299|791016|818284|818285|866560|866561|866562|866563|866564|866565|866566|866567|866568|866569|866570|866571|866572|866573|866574|866575|866576|866577|866578|866579|866580|868535|868536|868537", "text": "Cone dystrophy 4" }, { - "baseId": "23802|23803|23804|23805|23806|23807|23808|23809|23810|23811|23812|23813|23814|480776", + "upstreamId": "23802|23803|23804|23805|23806|23807|23808|23809|23810|23811|23812|23813|23814|480776", "text": "Achromatopsia 5" }, { - "baseId": "23815|23815|23817|23819|23819|23820|44630|53854|53855|53859|53861|53862|53863|53864|53868|140738|175694|175695|175696|175833|198355|198362|212924|214487|222136|224418|230188|241067|241068|241069|241070|313522|313528|372325|372330|374012|398120|398435|398524|398528|408316|415260|444770|460954|460959|461038|461041|461045|461046|461356|461756|497391|503561|510265|510268|511104|526013|526090|526092|526159|526162|526163|526516|526520|564529|564531|564533|564534|564536|567118|567119|639852|639853|639854|639855|639856|687728|752612|768382|820346|838174|838175|838176|838177|838178|838179|838180|838181|838182|838183|838184|838185|852335|926167|926168|935455|947381|947382|947383|947384|947385|956440", + "upstreamId": "23815|23815|23817|23819|23819|23820|44630|53854|53855|53859|53861|53862|53863|53864|53868|140738|175694|175695|175696|175833|198355|198362|212924|214487|222136|224418|230188|241067|241068|241069|241070|313522|313528|372325|372330|374012|398120|398435|398524|398528|408316|415260|444770|460954|460959|461038|461041|461045|461046|461356|461756|497391|503561|510265|510268|511104|526013|526090|526092|526159|526162|526163|526516|526520|564529|564531|564533|564534|564536|567118|567119|639852|639853|639854|639855|639856|687728|752612|768382|820346|838174|838175|838176|838177|838178|838179|838180|838181|838182|838183|838184|838185|852335|926167|926168|935455|947381|947382|947383|947384|947385|956440", "text": "Dilated cardiomyopathy 1M" }, { - "baseId": "23815|23815|23816|23817|23817|23819|23820|23820|44630|53854|53855|53855|53859|53859|53861|53861|53862|53862|53863|53863|53864|53868|140738|140738|140739|175694|175695|175696|175833|175833|175836|187656|198355|198360|198362|212924|214487|222136|224418|230188|241067|241068|241069|241070|313522|313522|313524|313528|313528|313532|319728|319730|319741|319744|319748|325855|325859|325860|325861|325891|326871|372325|372330|374012|398120|398435|398524|398528|408316|415260|444770|460954|460959|461038|461041|461045|461046|461356|461756|497391|503561|510265|510268|511104|526013|526090|526092|526159|526162|526163|526516|526520|564529|564531|564533|564534|564536|567118|567119|639852|639853|639854|639855|639856|687728|752612|768382|820346|838174|838175|838176|838177|838178|838179|838180|838181|838182|838183|838184|838185|852335|867722|867723|867724|867725|867726|867727|868636|920297|926167|926168|935455|947381|947382|947383|947384|947385|956440", + "upstreamId": "23815|23815|23816|23817|23817|23819|23820|23820|44630|53854|53855|53855|53859|53859|53861|53861|53862|53862|53863|53863|53864|53868|140738|140738|140739|175694|175695|175696|175833|175833|175836|187656|198355|198360|198362|212924|214487|222136|224418|230188|241067|241068|241069|241070|313522|313522|313524|313528|313528|313532|319728|319730|319741|319744|319748|325855|325859|325860|325861|325891|326871|372325|372330|374012|398120|398435|398524|398528|408316|415260|444770|460954|460959|461038|461041|461045|461046|461356|461756|497391|503561|510265|510268|511104|526013|526090|526092|526159|526162|526163|526516|526520|564529|564531|564533|564534|564536|567118|567119|639852|639853|639854|639855|639856|687728|752612|768382|820346|838174|838175|838176|838177|838178|838179|838180|838181|838182|838183|838184|838185|852335|867722|867723|867724|867725|867726|867727|868636|920297|926167|926168|935455|947381|947382|947383|947384|947385|956440", "text": "Familial hypertrophic cardiomyopathy 12" }, { - "baseId": "23815|25777|28516|29534|45092|52938|54084|57454|78832|171118|172475|174916|175600|186429|189951|197176|397203|398923|404169|509824|564702|679866|798993|799007|799013|799015|858255|965296|965301|965305|965309", + "upstreamId": "23815|25777|28516|29534|45092|52938|54084|57454|78832|171118|172475|174916|175600|186429|189951|197176|397203|398923|404169|509824|564702|679866|798993|799007|799013|799015|858255|965296|965301|965305|965309", "text": "Sudden unexplained death" }, { - "baseId": "23821|23822|23823|23824|23825|75216|132531|132532|132536|132543|132544|133426|133427|133432|133433|133436|133437|133440|133444|135068|135069|150490|150523|150560|150643|150655|150660|150667|150739|150771|151063|151206|151247|151258|151556|151709|151867|152047|152139|152141|152190|152192|152225|152237|152256|152303|178875|180539|180540|180541|180542|180544|180545|180546|180547|183486|183500|183503|183511|183516|183518|183519|183522|183523|183526|183529|183530|183539|183544|183549|183551|183557|183559|183564|183578|183585|191047|212961|222170|222173|222174|222176|222191|225571|234448|234449|234464|234478|234496|234505|234513|234521|234531|234547|234566|241208|315480|315481|315484|315485|315491|315493|315494|315498|315500|315501|322335|322336|322348|322349|322357|322374|322375|322381|322382|322385|322391|322397|322400|322401|322402|322407|322408|328471|328477|328484|328489|328495|328516|328517|328527|328528|328534|328535|328536|328539|329791|329792|329797|329800|329808|329809|329812|329816|329817|329838|329839|329840|329842|358842|398386|398472|460748|461510|461512|461515|461522|461530|461695|461701|461707|462029|462033|462346|476038|476044|476068|476069|476127|476133|476518|476534|476648|476652|476675|476737|525682|526514|526517|526526|526527|526575|526581|526583|526798|526801|527078|527087|527092|527094|539305|564932|564934|566208|566211|566733|567572|567573|614367|626385|788861|798647|798648|868948|868949|868950|868951|868952|868953|868954|868955|868956|868957|868958|868959|868960|868961|868962|868963|868964|868965|868966|868967|868968|868969|868970|868971|868972|868973|872152|872153|961301|964908", + "upstreamId": "23821|23822|23823|23824|23825|75216|132531|132532|132536|132543|132544|133426|133427|133432|133433|133436|133437|133440|133444|135068|135069|150490|150523|150560|150643|150655|150660|150667|150739|150771|151063|151206|151247|151258|151556|151709|151867|152047|152139|152141|152190|152192|152225|152237|152256|152303|178875|180539|180540|180541|180542|180544|180545|180546|180547|183486|183500|183503|183511|183516|183518|183519|183522|183523|183526|183529|183530|183539|183544|183549|183551|183557|183559|183564|183578|183585|191047|212961|222170|222173|222174|222176|222191|225571|234448|234449|234464|234478|234496|234505|234513|234521|234531|234547|234566|241208|315480|315481|315484|315485|315491|315493|315494|315498|315500|315501|322335|322336|322348|322349|322357|322374|322375|322381|322382|322385|322391|322397|322400|322401|322402|322407|322408|328471|328477|328484|328489|328495|328516|328517|328527|328528|328534|328535|328536|328539|329791|329792|329797|329800|329808|329809|329812|329816|329817|329838|329839|329840|329842|358842|398386|398472|460748|461510|461512|461515|461522|461530|461695|461701|461707|462029|462033|462346|476038|476044|476068|476069|476127|476133|476518|476534|476648|476652|476675|476737|525682|526514|526517|526526|526527|526575|526581|526583|526798|526801|527078|527087|527092|527094|539305|564932|564934|566208|566211|566733|567572|567573|614367|626385|788861|798647|798648|868948|868949|868950|868951|868952|868953|868954|868955|868956|868957|868958|868959|868960|868961|868962|868963|868964|868965|868966|868967|868968|868969|868970|868971|868972|868973|872152|872153|961301|964908", "text": "Ataxia-telangiectasia-like disorder 1" }, { - "baseId": 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+ "upstreamId": 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"text": "Ataxia-telangiectasia-like disorder" }, { - "baseId": "23826|23827|23828|23829|137700|314256|314264|314265|314270|314272|314273|314275|320885|326895|326899|326904|326905|326907|326909|326910|326912|327896|327903|327904|685286|701782|868081|868082|868083|868084|868085|868086|868087|868088|868089|868090|868091|868655", + "upstreamId": "23826|23827|23828|23829|137700|314256|314264|314265|314270|314272|314273|314275|320885|326895|326899|326904|326905|326907|326909|326910|326912|327896|327903|327904|685286|701782|868081|868082|868083|868084|868085|868086|868087|868088|868089|868090|868091|868655", "text": "Xeroderma pigmentosum, group E" }, { - "baseId": 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+ "upstreamId": 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"text": "Junctional epidermolysis bullosa gravis of Herlitz" }, { - "baseId": 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+ "upstreamId": 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"text": "Junctional epidermolysis bullosa, non-Herlitz type" }, { - "baseId": 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"text": "Pulmonary Hypertension, Primary, 1" }, { - "baseId": "23835|392288|414244|414318|654767", + "upstreamId": "23835|392288|414244|414318|654767", "text": "Pulmonary venoocclusive disease 1, autosomal dominant" }, { - "baseId": "23851|414114|414309", + "upstreamId": "23851|414114|414309", "text": "Pulmonary hypertension, primary, dexfenfluramine-associated" }, { - "baseId": "23852", + "upstreamId": "23852", "text": "Pulmonary hypertension, primary, fenfluramine-associated" }, { - "baseId": "23853|23854|23855|48021|48022", + "upstreamId": "23853|23854|23855|48021|48022", "text": "Pulmonary venoocclusive disease 1" }, { - "baseId": "23858", + "upstreamId": "23858", "text": "Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia" }, { - "baseId": "23859|23860", + "upstreamId": "23859|23860", "text": "DIABETES, TYPE II, SUSCEPTIBILITY TO" }, { - "baseId": 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+ "upstreamId": 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"text": "Multiple endocrine neoplasia, type 4" }, { - "baseId": "23863|23867|23868|176006|176007|176008|176009|176148|176149|176151|270922|324670|324671|324672|324673|324680|324681|324689|324692|324700|324701|324705|334228|334229|334235|334246|334251|334264|334265|334266|334267|334268|334269|334280|340914|340917|340920|340928|342356|342369|342370|342372|342375|342379|342381|342382|342383|342389|445537|552269|556460|556461|792799|797285|874905|874906|874907|874911|874913|874914|874915|874916|874917|874918|874919|874920|874921|874922|874923|874924|874925|874926", + "upstreamId": "23863|23867|23868|176006|176007|176008|176009|176148|176149|176151|270922|324670|324671|324672|324673|324680|324681|324689|324692|324700|324701|324705|334228|334229|334235|334246|334251|334264|334265|334266|334267|334268|334269|334280|340914|340917|340920|340928|342356|342369|342370|342372|342375|342379|342381|342382|342383|342389|445537|552269|556460|556461|792799|797285|874905|874906|874907|874911|874913|874914|874915|874916|874917|874918|874919|874920|874921|874922|874923|874924|874925|874926", "text": "Liddle syndrome 2" }, { - "baseId": "23864|23865|23866|23867|23868|23871|23883|24302|24303|24304|24305|24306|24308|175749|175889|176006|176007|176008|176009|176011|176012|176013|176014|176148|176149|176151|176154|176156|176157|191353|193465|193466|230335|230337|230338|230632|230633|255672|270922|318243|318246|318248|318249|318254|318256|318260|318268|318271|318273|318280|318282|318283|318284|318285|318287|324670|324671|324672|324673|324680|324681|324689|324692|324693|324700|324701|324705|324718|324720|324721|324723|324726|324727|324730|324735|326232|326237|326241|326243|326249|326253|326259|326263|332506|332508|332511|332523|332532|332536|332540|332543|332548|332550|332551|334108|334117|334121|334122|334123|334124|334131|334139|334143|334146|334150|334151|334153|334155|334228|334229|334235|334246|334251|334264|334265|334266|334267|334268|334269|334280|334300|334301|334307|334317|334318|334319|334320|340914|340917|340920|340928|340948|340950|340954|340958|340959|340960|340968|340972|342356|342369|342370|342372|342375|342379|342381|342382|342383|342387|342389|342413|342420|342424|342427|342429|342436|445537|481263|578502|578503|582711|620454|713693|725223|753541|753543|791270|791271|791559|792799|797285|804853|870271|870272|870273|870274|870275|870276|870277|870278|870279|870280|870281|870282|870283|870284|870285|870286|870287|870288|870289|872282|872283|874905|874906|874907|874911|874913|874914|874915|874916|874917|874918|874919|874920|874921|874922|874923|874924|874925|874926|874936|874937|874938|874939|874940|874941|874942|874943|874944|874945|874946|874947|874948|874949|874950|874951|874952|874953|874954|874955|876643|876644|980348", + "upstreamId": "23864|23865|23866|23867|23868|23871|23883|24302|24303|24304|24305|24306|24308|175749|175889|176006|176007|176008|176009|176011|176012|176013|176014|176148|176149|176151|176154|176156|176157|191353|193465|193466|230335|230337|230338|230632|230633|255672|270922|318243|318246|318248|318249|318254|318256|318260|318268|318271|318273|318280|318282|318283|318284|318285|318287|324670|324671|324672|324673|324680|324681|324689|324692|324693|324700|324701|324705|324718|324720|324721|324723|324726|324727|324730|324735|326232|326237|326241|326243|326249|326253|326259|326263|332506|332508|332511|332523|332532|332536|332540|332543|332548|332550|332551|334108|334117|334121|334122|334123|334124|334131|334139|334143|334146|334150|334151|334153|334155|334228|334229|334235|334246|334251|334264|334265|334266|334267|334268|334269|334280|334300|334301|334307|334317|334318|334319|334320|340914|340917|340920|340928|340948|340950|340954|340958|340959|340960|340968|340972|342356|342369|342370|342372|342375|342379|342381|342382|342383|342387|342389|342413|342420|342424|342427|342429|342436|445537|481263|578502|578503|582711|620454|713693|725223|753541|753543|791270|791271|791559|792799|797285|804853|870271|870272|870273|870274|870275|870276|870277|870278|870279|870280|870281|870282|870283|870284|870285|870286|870287|870288|870289|872282|872283|874905|874906|874907|874911|874913|874914|874915|874916|874917|874918|874919|874920|874921|874922|874923|874924|874925|874926|874936|874937|874938|874939|874940|874941|874942|874943|874944|874945|874946|874947|874948|874949|874950|874951|874952|874953|874954|874955|876643|876644|980348", "text": "Autosomal recessive pseudohypoaldosteronism type 1" }, { - "baseId": "23867|23868|324680|445537|792799", + "upstreamId": "23867|23868|324680|445537|792799", "text": "Bronchiectasis with or without elevated sweat chloride 3" }, { - "baseId": "23869|23870|23871|23872|23873|23874|23875|23876|23883|176011|176012|176013|176014|176154|176156|176157|230632|230633|255672|324693|324718|324720|324721|324723|324726|324727|324730|324735|334300|334301|334307|334317|334318|334319|334320|340948|340950|340954|340958|340959|340960|340968|340972|342387|342413|342420|342424|342427|342429|342436|623386|874936|874937|874938|874939|874940|874941|874942|874943|874944|874945|874946|874947|874948|874949|874950|874951|874952|874953|874954|874955|876643|876644|962176|977274", + "upstreamId": "23869|23870|23871|23872|23873|23874|23875|23876|23883|176011|176012|176013|176014|176154|176156|176157|230632|230633|255672|324693|324718|324720|324721|324723|324726|324727|324730|324735|334300|334301|334307|334317|334318|334319|334320|340948|340950|340954|340958|340959|340960|340968|340972|342387|342413|342420|342424|342427|342429|342436|623386|874936|874937|874938|874939|874940|874941|874942|874943|874944|874945|874946|874947|874948|874949|874950|874951|874952|874953|874954|874955|876643|876644|962176|977274", "text": "Liddle syndrome 1" }, { - "baseId": "23884|23885|23886|23887|23888|23889|23890|23891|23892|32903|32909|46863|46864|103887|178440|189388|189390|249746|249747|249748|249749|249750|249751|249752|249753|279384|279385|279389|279393|279394|279399|279627|279635|279636|279637|279638|279639|279642|280901|280903|280906|280914|280915|280916|281046|281047|281053|281056|281057|281058|281061|440487|447749|514880|515466|515563|515564|515594|556792|558349|627390|627391|627392|683306|683307|690502|690506|696513|718702|746190|823492|863799|863800|863801|863802|863803|863804|863805|863806|863807|863808|863809|863810|863811|863812|863813|921853|952304", + "upstreamId": "23884|23885|23886|23887|23888|23889|23890|23891|23892|32903|32909|46863|46864|103887|178440|189388|189390|249746|249747|249748|249749|249750|249751|249752|249753|279384|279385|279389|279393|279394|279399|279627|279635|279636|279637|279638|279639|279642|280901|280903|280906|280914|280915|280916|281046|281047|281053|281056|281057|281058|281061|440487|447749|514880|515466|515563|515564|515594|556792|558349|627390|627391|627392|683306|683307|690502|690506|696513|718702|746190|823492|863799|863800|863801|863802|863803|863804|863805|863806|863807|863808|863809|863810|863811|863812|863813|921853|952304", "text": "Alzheimer disease, type 4" }, { - "baseId": "23891|103887|178440|189388|189390|249746|249747|249748|249749|249750|249751|249752|249753|279384|279385|279389|279393|279394|279399|279627|279635|279636|279637|279638|279639|279642|280901|280903|280906|280914|280915|280916|281046|281047|281053|281056|281057|281058|281061|440487|515466|515563|690502|690506|718702|746190|863799|863800|863801|863802|863803|863804|863805|863806|863807|863808|863809|863810|863811|863812|863813", + "upstreamId": "23891|103887|178440|189388|189390|249746|249747|249748|249749|249750|249751|249752|249753|279384|279385|279389|279393|279394|279399|279627|279635|279636|279637|279638|279639|279642|280901|280903|280906|280914|280915|280916|281046|281047|281053|281056|281057|281058|281061|440487|515466|515563|690502|690506|718702|746190|863799|863800|863801|863802|863803|863804|863805|863806|863807|863808|863809|863810|863811|863812|863813", "text": "Dilated cardiomyopathy 1V" }, { - "baseId": "23893|23894|353955|353956|353957|463878|463881|527985|528042|528500|567867|572744|642196|642197|642199|642200|642202|642203|642204|970991", + "upstreamId": "23893|23894|353955|353956|353957|463878|463881|527985|528042|528500|567867|572744|642196|642197|642199|642200|642202|642203|642204|970991", "text": "Specific granule deficiency 1" }, { - "baseId": "23895|551781|857650", + "upstreamId": "23895|551781|857650", "text": "Long QT syndrome 13" }, { - "baseId": "23895|23957|23958|23958|23959|23960|23961|23962|23962|23962|23963|23964|23965|23967|39075|39076|39077|39077|39081|45097|45097|78456|78461|78462|78463|78464|78464|78465|78465|78470|78471|78477|78479|78481|78481|78484|78487|78487|78490|141686|141687|141689|141690|141691|141691|171189|171189|188650|188656|188659|188661|188662|188662|188664|188665|188666|188666|188667|204359|204360|222732|224521|224521|224522|259015|259021|259021|265838|269767|329615|329619|329620|329624|329625|329625|329628|329635|329636|329637|329638|329639|329641|329643|329645|329648|329650|329654|329655|329660|329663|329664|329666|329669|329672|329675|329677|339907|339908|339911|339911|339912|339916|339921|339922|339923|339925|339927|339929|339930|339933|339934|339941|345630|345631|345634|345635|345638|345640|345641|345645|345648|345649|345652|345653|345659|345662|345663|345667|345669|345672|345676|345677|345679|345681|345682|346986|346987|346989|346993|347000|347010|347015|347017|347021|347026|347038|347042|347043|375673|376609|376617|376617|376618|378738|402503|402505|402975|403114|403117|403123|439887|442013|445876|467401|467407|467416|468303|468306|468769|468771|468771|468772|469005|469008|507126|510757|510758|532098|569686|569694|571569|625822|625823|625823|626260|646634|646635|646636|646637|646638|646639|646640|646641|646642|646643|672444|672444|677457|688820|688821|688822|694171|694172|694173|694173|694175|740993|771784|846135|846136|846137|846138|846139|878290|878291|878292|878292|878293|878294|878295|878296|878297|878298|878299|878300|878301|878302|878303|878304|878305|878306|878307|878308|878309|878310|878311|878312|878313|878314|878315|878316|878317|878318|878319|878320|878321|878322|878323|878324|878325|919766|928519|928520|928521|938204|938205|941158|950259|950260|958288|958289|967210|969522", + "upstreamId": "23895|23957|23958|23958|23959|23960|23961|23962|23962|23962|23963|23964|23965|23967|39075|39076|39077|39077|39081|45097|45097|78456|78461|78462|78463|78464|78464|78465|78465|78470|78471|78477|78479|78481|78481|78484|78487|78487|78490|141686|141687|141689|141690|141691|141691|171189|171189|188650|188656|188659|188661|188662|188662|188664|188665|188666|188666|188667|204359|204360|222732|224521|224521|224522|259015|259021|259021|265838|269767|329615|329619|329620|329624|329625|329625|329628|329635|329636|329637|329638|329639|329641|329643|329645|329648|329650|329654|329655|329660|329663|329664|329666|329669|329672|329675|329677|339907|339908|339911|339911|339912|339916|339921|339922|339923|339925|339927|339929|339930|339933|339934|339941|345630|345631|345634|345635|345638|345640|345641|345645|345648|345649|345652|345653|345659|345662|345663|345667|345669|345672|345676|345677|345679|345681|345682|346986|346987|346989|346993|347000|347010|347015|347017|347021|347026|347038|347042|347043|375673|376609|376617|376617|376618|378738|402503|402505|402975|403114|403117|403123|439887|442013|445876|467401|467407|467416|468303|468306|468769|468771|468771|468772|469005|469008|507126|510757|510758|532098|569686|569694|571569|625822|625823|625823|626260|646634|646635|646636|646637|646638|646639|646640|646641|646642|646643|672444|672444|677457|688820|688821|688822|694171|694172|694173|694173|694175|740993|771784|846135|846136|846137|846138|846139|878290|878291|878292|878292|878293|878294|878295|878296|878297|878298|878299|878300|878301|878302|878303|878304|878305|878306|878307|878308|878309|878310|878311|878312|878313|878314|878315|878316|878317|878318|878319|878320|878321|878322|878323|878324|878325|919766|928519|928520|928521|938204|938205|941158|950259|950260|958288|958289|967210|969522", "text": "Andersen Tawil syndrome" }, { - "baseId": "23895|39081|97393|139391|139392|139393|141693|141694|141695|141696|141697|141698|186151|212923|313268|313294|313298|313299|313300|313301|313305|313306|313309|313312|313313|313314|319394|319399|319400|319401|319402|319417|319418|319435|319441|319442|319443|325531|325539|325545|325549|325562|325570|325578|325579|326523|326529|326535|326539|326540|326541|326545|326565|326566|326575|326583|326584|326586|684239|867560|867561|867562|867563|867564|867565|867566|867567|867568|867569|867570|867571|867572|867573|867574|867575|867576|867577|867578|867579|919340", + "upstreamId": "23895|39081|97393|139391|139392|139393|141693|141694|141695|141696|141697|141698|186151|212923|313268|313294|313298|313299|313300|313301|313305|313306|313309|313312|313313|313314|319394|319399|319400|319401|319402|319417|319418|319435|319441|319442|319443|325531|325539|325545|325549|325562|325570|325578|325579|326523|326529|326535|326539|326540|326541|326545|326565|326566|326575|326583|326584|326586|684239|867560|867561|867562|867563|867564|867565|867566|867567|867568|867569|867570|867571|867572|867573|867574|867575|867576|867577|867578|867579|919340", "text": "Familial hyperaldosteronism type 3" }, { - "baseId": "23896|23903|23904|33976|39080|39080|429487", + "upstreamId": "23896|23903|23904|33976|39080|39080|429487", "text": "Pancreatic agenesis 1" }, { - "baseId": "23896|23898|23902|33976|33976|39080|45065|45066|45067|45069|45070|45071|45072|45074|45075|45076|45077|135327|429487", + "upstreamId": "23896|23898|23902|33976|33976|39080|45065|45066|45067|45069|45070|45071|45072|45074|45075|45076|45077|135327|429487", "text": "Maturity-onset diabetes of the young type 4" }, { - "baseId": "23905|23906|23907|23908|23911|23912|23913|23914|23915|265457|269321|271728|271980|284771|284778|284789|284790|285429|285440|285441|285452|285463|287653|287655|287670|287672|287684|287685|287686|287907|287921|287922|287941|287943|287949|287963|287965|733174|747307|822332|822333|822336|857347|883778|883779|883780|883781|883782|883783|883784|883785|883786|883787|883788|883789|883790|883791|883792|883793|883794|883795|883796|883797|883798|883799|883800|883801|887276|918030|918739", + "upstreamId": "23905|23906|23907|23908|23911|23912|23913|23914|23915|265457|269321|271728|271980|284771|284778|284789|284790|285429|285440|285441|285452|285463|287653|287655|287670|287672|287684|287685|287686|287907|287921|287922|287941|287943|287949|287963|287965|733174|747307|822332|822333|822336|857347|883778|883779|883780|883781|883782|883783|883784|883785|883786|883787|883788|883789|883790|883791|883792|883793|883794|883795|883796|883797|883798|883799|883800|883801|887276|918030|918739", "text": "Type A1 brachydactyly" }, { - "baseId": "23909|23910|788747|788748", + "upstreamId": "23909|23910|788747|788748", "text": "Acrocapitofemoral dysplasia" }, { - "baseId": "23916|23917|23918|23919|23920|23921|23922|23923|23924|23925|23926|23927|23928|23930|23932|23934|23935|76732|76754|76757|76761|76762|76768|76780|76784|76785|76787|76791|76792|76795|76800|76812|76819|76820|193391|361187|424484|456902|457594|486746|522502|536077|536078|536079|536081|635957|651714|677292|699961|699962|699963|710892|710893|710894|736042|750536|945539|964288|964832|970853|970854|977228", + "upstreamId": "23916|23917|23918|23919|23920|23921|23922|23923|23924|23925|23926|23927|23928|23930|23932|23934|23935|76732|76754|76757|76761|76762|76768|76780|76784|76785|76787|76791|76792|76795|76800|76812|76819|76820|193391|361187|424484|456902|457594|486746|522502|536077|536078|536079|536081|635957|651714|677292|699961|699962|699963|710892|710893|710894|736042|750536|945539|964288|964832|970853|970854|977228", "text": "Holoprosencephaly 3" }, { - "baseId": "23925|23926|24558|24559|24560|24561|39337|39338|39339|490057|918773|919095", + "upstreamId": "23925|23926|24558|24559|24560|24561|39337|39338|39339|490057|918773|919095", "text": "SCHIZENCEPHALY" }, { - "baseId": "23925|23931|653874", + "upstreamId": "23925|23931|653874", "text": "Microphthalmia, isolated, with coloboma 5" }, { - "baseId": "23925|23929|23933|23934|39338|536080", + "upstreamId": "23925|23929|23933|23934|39338|536080", "text": "Solitary median maxillary central incisor syndrome" }, { - "baseId": "23936|23937|99599|99601|177611|191655|193026|206565|237094|255853|325986|326000|326048|335697|335733|335736|342070|343570|354176|431798|486149|799959|799960|799961|905053|905056|919667|919668|971052", + "upstreamId": "23936|23937|99599|99601|177611|191655|193026|206565|237094|255853|325986|326000|326048|335697|335733|335736|342070|343570|354176|431798|486149|799959|799960|799961|905053|905056|919667|919668|971052", "text": "Retinitis pigmentosa 45" }, { - "baseId": "23938|23939|23940|23941|23942|23943|23944|23945|23946|23947|70781|70782|70783|70813|70814|70815|70816|70817|70818|70819|70820|70821|70822|70823|70824|70825|70826|70827|70828|70829|70830|70831|70832|70833|70834|70835|70836|70837|70838|70839|70840|70841|70842|70843|70844|70845|70846|70847|70848|70849|70850|70851|70852|70853|70854|70855|70856|70857|70858|70859|135467|135468|135469|142496|142499|186623|193410|195574|196169|200995|201106|201107|201109|201110|201111|201112|201113|201114|201115|201116|201117|201119|201123|227214|237963|237964|237965|237966|238280|264002|280434|280436|280445|280449|280451|280455|280458|280459|280460|280472|280801|280811|280814|280829|280844|280857|280858|282205|282206|282207|282209|282212|282213|282219|282220|282221|282222|282345|282366|282371|282374|282405|282406|282423|282430|357075|357076|357077|357078|357079|357080|357081|357082|357083|357084|365267|391214|391215|391343|391344|442835|447887|447890|448107|448110|448113|448114|448174|448186|448188|485997|498657|498671|514895|515852|515855|515856|515881|515899|515905|515906|515977|541042|541052|541054|541058|541144|541145|541150|541155|541181|541184|541186|541191|541194|541196|541198|541205|557051|557313|557315|558501|558503|558505|558507|558509|578791|622862|627826|627827|627828|627829|627830|627831|650666|653849|653988|683327|685730|746470|759011|761911|774499|780684|818966|823950|823951|823952|823953|823954|823955|823956|823957|823958|823959|850711|850780|864332|864333|864334|864335|864336|864337|864338|864339|864340|864341|864342|864343|864344|864345|864346|922011|922012|922013|922014|930483|930484|940633|941935|941936|941937|941938|952409|952410|952411|965935|977535|977536|977537|977538", + "upstreamId": "23938|23939|23940|23941|23942|23943|23944|23945|23946|23947|70781|70782|70783|70813|70814|70815|70816|70817|70818|70819|70820|70821|70822|70823|70824|70825|70826|70827|70828|70829|70830|70831|70832|70833|70834|70835|70836|70837|70838|70839|70840|70841|70842|70843|70844|70845|70846|70847|70848|70849|70850|70851|70852|70853|70854|70855|70856|70857|70858|70859|135467|135468|135469|142496|142499|186623|193410|195574|196169|200995|201106|201107|201109|201110|201111|201112|201113|201114|201115|201116|201117|201119|201123|227214|237963|237964|237965|237966|238280|264002|280434|280436|280445|280449|280451|280455|280458|280459|280460|280472|280801|280811|280814|280829|280844|280857|280858|282205|282206|282207|282209|282212|282213|282219|282220|282221|282222|282345|282366|282371|282374|282405|282406|282423|282430|357075|357076|357077|357078|357079|357080|357081|357082|357083|357084|365267|391214|391215|391343|391344|442835|447887|447890|448107|448110|448113|448114|448174|448186|448188|485997|498657|498671|514895|515852|515855|515856|515881|515899|515905|515906|515977|541042|541052|541054|541058|541144|541145|541150|541155|541181|541184|541186|541191|541194|541196|541198|541205|557051|557313|557315|558501|558503|558505|558507|558509|578791|622862|627826|627827|627828|627829|627830|627831|650666|653849|653988|683327|685730|746470|759011|761911|774499|780684|818966|823950|823951|823952|823953|823954|823955|823956|823957|823958|823959|850711|850780|864332|864333|864334|864335|864336|864337|864338|864339|864340|864341|864342|864343|864344|864345|864346|922011|922012|922013|922014|930483|930484|940633|941935|941936|941937|941938|952409|952410|952411|965935|977535|977536|977537|977538", "text": "Neuronal ceroid lipofuscinosis 1" }, { - "baseId": "23943|140827|193688|194825|202608|203812|203814|203815|203817|203818|280429|280430|280812|280826|282370|282413|292242|292244|296979|314712|314713|321380|321392|321432|321436|323238|323239|327543|327555|328606|328626|332905|336299|336301|336304|336307|336310|336312|336318|336320|336322|336324|336325|336328|336329|336335|336336|336345|336348|336351|336357|336358|336368|336369|336371|336372|336378|336379|336383|339799|341232|341236|341237|346019|346022|346023|346027|346031|346032|346034|346035|346039|346045|346049|346051|346057|346063|346066|346068|346083|346085|346091|346092|346093|346098|346102|346115|350380|350381|350384|350385|350388|350389|350392|350393|350396|350397|350400|350401|350404|350405|350407|350408|350413|350414|350419|350420|350423|350424|350427|350428|350430|350431|350434|351417|351418|351421|351424|351425|351427|351430|351431|351434|351435|351438|351439|351442|351443|351446|351447|351450|351451|351454|351455|351457|351460|351461|351464|351465|351467|351470|353327|353328", + "upstreamId": "23943|140827|193688|194825|202608|203812|203814|203815|203817|203818|280429|280430|280812|280826|282370|282413|292242|292244|296979|314712|314713|321380|321392|321432|321436|323238|323239|327543|327555|328606|328626|332905|336299|336301|336304|336307|336310|336312|336318|336320|336322|336324|336325|336328|336329|336335|336336|336345|336348|336351|336357|336358|336368|336369|336371|336372|336378|336379|336383|339799|341232|341236|341237|346019|346022|346023|346027|346031|346032|346034|346035|346039|346045|346049|346051|346057|346063|346066|346068|346083|346085|346091|346092|346093|346098|346102|346115|350380|350381|350384|350385|350388|350389|350392|350393|350396|350397|350400|350401|350404|350405|350407|350408|350413|350414|350419|350420|350423|350424|350427|350428|350430|350431|350434|351417|351418|351421|351424|351425|351427|351430|351431|351434|351435|351438|351439|351442|351443|351446|351447|351450|351451|351454|351455|351457|351460|351461|351464|351465|351467|351470|353327|353328", "text": "Neuronal Ceroid-Lipofuscinosis, Recessive" }, { - "baseId": "23948|23949", + "upstreamId": "23948|23949", "text": "Diabetes mellitus, insulin-dependent, susceptibility to" }, { - "baseId": "23948|31960|31961", + "upstreamId": "23948|31960|31961", "text": "Hashimoto thyroiditis, susceptibility to" }, { - "baseId": "23948", + "upstreamId": "23948", "text": "Addison disease, susceptibility to" }, { - "baseId": "23948|31961", + "upstreamId": "23948|31961", "text": "chronic fatigue syndrome with infection-triggered onset" }, { - "baseId": "23951|139369|192849|202713|274242|372394|408707|429438|571890|614378|677439|677440|798657|857655|861576|983305", + "upstreamId": "23951|139369|192849|202713|274242|372394|408707|429438|571890|614378|677439|677440|798657|857655|861576|983305", "text": "Cognitive impairment with or without cerebellar ataxia" }, { - "baseId": "23952|40534|421846|619826", + "upstreamId": "23952|40534|421846|619826", "text": "Arthrogryposis, distal, type 2b2" }, { - "baseId": "23952|40534", + "upstreamId": "23952|40534", "text": "Arthyrgryposis, distal, type 2B" }, { - "baseId": "23953|23954", + "upstreamId": "23953|23954", "text": "Erythrocyte lactate transporter defect" }, { - "baseId": "23955|23956|135762|170214|249364|249365|275923|275925|275928|275929|275930|275931|275933|276014|276017|276033|276034|276048|276049|276062|276065|276067|276090|276094|276106|276121|276122|276125|276135|276167|276171|276172|276182|276191|276200|276274|276277|276278|276279|276291|276292|276293|276294|276295|276296|276297|276333|276334|276338|427621|731588|789822|815975|861961|861962|861963|861964|861965|861966|861967|861968|861969|861970|861971|861972|861973|861974|861975|861976|861977|861978|861979", + "upstreamId": "23955|23956|135762|170214|249364|249365|275923|275925|275928|275929|275930|275931|275933|276014|276017|276033|276034|276048|276049|276062|276065|276067|276090|276094|276106|276121|276122|276125|276135|276167|276171|276172|276182|276191|276200|276274|276277|276278|276279|276291|276292|276293|276294|276295|276296|276297|276333|276334|276338|427621|731588|789822|815975|861961|861962|861963|861964|861965|861966|861967|861968|861969|861970|861971|861972|861973|861974|861975|861976|861977|861978|861979", "text": "Exercise-induced hyperinsulinism" }, { - "baseId": "23958|23962|23962|23966|39077|39077|45097|45097|78456|78461|78462|78464|78465|78470|78471|78481|78487|78490|141686|141687|141689|141690|141691|141691|171189|188650|188656|188659|188661|188662|188664|188665|188666|188666|188667|224521|224522|259015|259021|265838|269767|329615|329619|329624|329625|329625|329628|329635|329637|329638|329639|329641|329645|329648|329655|329664|329666|329669|329677|339907|339911|339911|339912|339916|339922|339923|339925|339933|339934|339941|345630|345631|345634|345635|345638|345640|345641|345645|345648|345649|345652|345659|345662|345663|345667|345669|345679|345681|345682|346986|346987|346989|346993|347010|347015|347017|347038|347042|347043|375673|376609|376617|376617|376618|378738|402503|402505|402975|403114|403117|442013|445876|467401|467407|467416|468306|468769|468771|468771|468772|469005|469008|507126|510757|510758|532098|569686|569694|571569|625823|646634|646635|646636|646637|646638|646639|646640|646641|646642|646643|672444|677457|688820|688821|688822|694171|694172|694173|694173|694175|740993|771784|846135|846136|846137|846138|846139|878290|878291|878292|878292|878293|878294|878295|878296|878297|878298|878299|878300|878301|878302|878303|878304|878305|878306|878307|878308|878309|878310|878311|878312|878313|878314|878315|878316|878317|878318|878319|878320|878321|878322|878323|878324|878325|928519|928520|928521|938204|938205|941158|950259|950260|958288|958289", + "upstreamId": "23958|23962|23962|23966|39077|39077|45097|45097|78456|78461|78462|78464|78465|78470|78471|78481|78487|78490|141686|141687|141689|141690|141691|141691|171189|188650|188656|188659|188661|188662|188664|188665|188666|188666|188667|224521|224522|259015|259021|265838|269767|329615|329619|329624|329625|329625|329628|329635|329637|329638|329639|329641|329645|329648|329655|329664|329666|329669|329677|339907|339911|339911|339912|339916|339922|339923|339925|339933|339934|339941|345630|345631|345634|345635|345638|345640|345641|345645|345648|345649|345652|345659|345662|345663|345667|345669|345679|345681|345682|346986|346987|346989|346993|347010|347015|347017|347038|347042|347043|375673|376609|376617|376617|376618|378738|402503|402505|402975|403114|403117|442013|445876|467401|467407|467416|468306|468769|468771|468771|468772|469005|469008|507126|510757|510758|532098|569686|569694|571569|625823|646634|646635|646636|646637|646638|646639|646640|646641|646642|646643|672444|677457|688820|688821|688822|694171|694172|694173|694173|694175|740993|771784|846135|846136|846137|846138|846139|878290|878291|878292|878292|878293|878294|878295|878296|878297|878298|878299|878300|878301|878302|878303|878304|878305|878306|878307|878308|878309|878310|878311|878312|878313|878314|878315|878316|878317|878318|878319|878320|878321|878322|878323|878324|878325|928519|928520|928521|938204|938205|941158|950259|950260|958288|958289", "text": "Short QT syndrome 3" }, { - "baseId": "23962|39077|45097|141691|188666|329615|329619|329624|329625|329628|329635|329637|329638|329639|329641|329645|329648|329655|329664|329666|329669|329677|339907|339911|339912|339916|339922|339923|339925|339933|339934|339941|345630|345631|345634|345635|345638|345640|345641|345645|345648|345649|345652|345659|345662|345663|345667|345669|345679|345681|345682|346986|346987|346989|346993|347010|347015|347017|347038|347042|347043|375673|376617|468771|677457|694173|878290|878291|878292|878293|878294|878295|878296|878297|878298|878299|878300|878301|878302|878303|878304|878305|878306|878307|878308|878309|878310|878311|878312|878313|878314|878315|878316|878317|878318|878319|878320|878321|878322|878323|878324|878325", + "upstreamId": "23962|39077|45097|141691|188666|329615|329619|329624|329625|329628|329635|329637|329638|329639|329641|329645|329648|329655|329664|329666|329669|329677|339907|339911|339912|339916|339922|339923|339925|339933|339934|339941|345630|345631|345634|345635|345638|345640|345641|345645|345648|345649|345652|345659|345662|345663|345667|345669|345679|345681|345682|346986|346987|346989|346993|347010|347015|347017|347038|347042|347043|375673|376617|468771|677457|694173|878290|878291|878292|878293|878294|878295|878296|878297|878298|878299|878300|878301|878302|878303|878304|878305|878306|878307|878308|878309|878310|878311|878312|878313|878314|878315|878316|878317|878318|878319|878320|878321|878322|878323|878324|878325", "text": "Atrial fibrillation, familial, 9" }, { - "baseId": 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+ "upstreamId": 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"text": "Hereditary nonpolyposis colorectal cancer type 5" }, { - "baseId": "23970|95014", + "upstreamId": "23970|95014", "text": "Colorectal / endometrial cancer" }, { - "baseId": "23983", + "upstreamId": "23983", "text": "Cutaneous malignant melanoma 6" }, { - "baseId": "23985|799597", + "upstreamId": "23985|799597", "text": "Cocoon syndrome" }, { - "baseId": "23986|48699|48700|48701|48702|99963|141906|168540|168541|168543|194368|195642|201906|201910|201919|205746|207288|215010|225866|300680|368274|368590|425650|432211|454426|455075|455087|455740|455745|455748|455995|455997|481413|521266|560500|560502|563254|563256|589802|611389|634465|634466|634467|672063|672064|686769|749644|782384|815982|819631|819632|821924|831248|831249|831250|920214|924189|924190|924191|924192|924193|924194|933063|933064|933065|940828|944769|962879|964118|964262|964263|970815|970816", + "upstreamId": "23986|48699|48700|48701|48702|99963|141906|168540|168541|168543|194368|195642|201906|201910|201919|205746|207288|215010|225866|300680|368274|368590|425650|432211|454426|455075|455087|455740|455745|455748|455995|455997|481413|521266|560500|560502|563254|563256|589802|611389|634465|634466|634467|672063|672064|686769|749644|782384|815982|819631|819632|821924|831248|831249|831250|920214|924189|924190|924191|924192|924193|924194|933063|933064|933065|940828|944769|962879|964118|964262|964263|970815|970816", "text": "Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations" }, { - "baseId": "23987", + "upstreamId": "23987", "text": "Coronary artery disease, autosomal dominant, 1" }, { - "baseId": "23988|23989|23990", + "upstreamId": "23988|23989|23990", "text": "Coronary artery disease/myocardial infarction" }, { - "baseId": "23991|23992|23992|23992|23993|23993|23994|23995|23996|23997|23997|23997|23998|24003|24007|24007|39073|98339|98342|98342|136314|140731|177194|177327|186625|186626|186627|186627|199958|199958|199960|357113|357114|357115|357116|357117|357118|357119|357120|357121|357122|357123|357123|357124|357125|357126|357127|359268|361851|361852|363677|363677|440518|440518|448103|448103|486906|516115|516120|516124|541187|541188|541190|541192|541199|541201|541203|541204|541207|541211|541213|541214|541215|541217|541220|541223|541226|541231|541233|541302|541304|541306|541308|541309|541310|541311|541313|541315|541316|541317|541318|541319|541320|541321|541322|541323|541332|612257|621084|788739|906231", + "upstreamId": "23991|23992|23992|23992|23993|23993|23994|23995|23996|23997|23997|23997|23998|24003|24007|24007|39073|98339|98342|98342|136314|140731|177194|177327|186625|186626|186627|186627|199958|199958|199960|357113|357114|357115|357116|357117|357118|357119|357120|357121|357122|357123|357123|357124|357125|357126|357127|359268|361851|361852|363677|363677|440518|440518|448103|448103|486906|516115|516120|516124|541187|541188|541190|541192|541199|541201|541203|541204|541207|541211|541213|541214|541215|541217|541220|541223|541226|541231|541233|541302|541304|541306|541308|541309|541310|541311|541313|541315|541316|541317|541318|541319|541320|541321|541322|541323|541332|612257|621084|788739|906231", "text": "Carnitine palmitoyltransferase II deficiency, infantile" }, { - "baseId": 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+ "upstreamId": 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"text": "Carnitine palmitoyltransferase II deficiency" }, { - "baseId": "23991|23992|23992|23993|23993|23994|23995|23997|23997|23998|24005|24006|24007|24007|186627|199958|357113|357114|357115|357116|357117|357118|357119|357120|357121|357122|357123|357123|357124|357125|357126|357127|363677|440518|448103|516115|516120|516124|541207|608939", + "upstreamId": "23991|23992|23992|23993|23993|23994|23995|23997|23997|23998|24005|24006|24007|24007|186627|199958|357113|357114|357115|357116|357117|357118|357119|357120|357121|357122|357123|357123|357124|357125|357126|357127|363677|440518|448103|516115|516120|516124|541207|608939", "text": "Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced" }, { - "baseId": "23992|23992|23992|23993|23997|23997|23997|23998|24000|24001|24002|24003|24004|24007|24007|39073|98342|186627|199958|199958|357113|357114|357115|357116|357117|357118|357119|357120|357121|357122|357123|357123|357124|357125|357126|357127|363677|440518|448103|513901|516115|516120|516124|621084|818384|818385|906342|962668|962669", + "upstreamId": "23992|23992|23992|23993|23997|23997|23997|23998|24000|24001|24002|24003|24004|24007|24007|39073|98342|186627|199958|199958|357113|357114|357115|357116|357117|357118|357119|357120|357121|357122|357123|357123|357124|357125|357126|357127|363677|440518|448103|513901|516115|516120|516124|621084|818384|818385|906342|962668|962669", "text": "Carnitine palmitoyltransferase II deficiency, lethal neonatal" }, { - "baseId": "23992|23993|23997|24007|186627|357123|363677|440518|448103|516115|516120|516124|964158", + "upstreamId": "23992|23993|23997|24007|186627|357123|363677|440518|448103|516115|516120|516124|964158", "text": "Encephalopathy, acute, infection-induced, 4, susceptibility to" }, { - "baseId": "23997|45840|263356|801166", + "upstreamId": "23997|45840|263356|801166", "text": "Abnormality of the nervous system" }, { - "baseId": "24008|24009|24010|215426|712647|724249|724251|724252|724253|737806|744596|752482|752483|752484|760038|768262|787624|791116|867219|867220|867221|867222|867223|867224|867225|867226|867227|867228|867229|867230|867231|867232|867233|867234|867235|867236|867237|867238|867239|867240|867241|867242|867243|867244|867245|867246|867247|867248|867249|867250|867251|867252|867253|867254|867255|867256|867257|867258|867259|867260|867261|867262|867263|867264|867265|867266|867267|867268|867269|867270|867271|867272|867273|867274|867275|867276|867277|867278|867279|867280|867281|867282|867283|867284|867285|867286|867287|867288|867289|867290|867291|867292|867293|867294|867295|867296|867297|867298|867299|867300|867301|867302|867303|867304|867305|867306|867307|867308|867309|867310|867311|867312|867313|867314|867315|867316|867317|867318|867319|867320|867321|867322|867323|867324|867325|867326|867327|867328|867329|867330|867331|867332|867333|867334|867335|867336|867337|867338|867339|867340|867341|867342|867343|867344|867345|867346|867347", + "upstreamId": "24008|24009|24010|215426|712647|724249|724251|724252|724253|737806|744596|752482|752483|752484|760038|768262|787624|791116|867219|867220|867221|867222|867223|867224|867225|867226|867227|867228|867229|867230|867231|867232|867233|867234|867235|867236|867237|867238|867239|867240|867241|867242|867243|867244|867245|867246|867247|867248|867249|867250|867251|867252|867253|867254|867255|867256|867257|867258|867259|867260|867261|867262|867263|867264|867265|867266|867267|867268|867269|867270|867271|867272|867273|867274|867275|867276|867277|867278|867279|867280|867281|867282|867283|867284|867285|867286|867287|867288|867289|867290|867291|867292|867293|867294|867295|867296|867297|867298|867299|867300|867301|867302|867303|867304|867305|867306|867307|867308|867309|867310|867311|867312|867313|867314|867315|867316|867317|867318|867319|867320|867321|867322|867323|867324|867325|867326|867327|867328|867329|867330|867331|867332|867333|867334|867335|867336|867337|867338|867339|867340|867341|867342|867343|867344|867345|867346|867347", "text": "Cleft lip/palate-ectodermal dysplasia syndrome" }, { - "baseId": "24008", + "upstreamId": "24008", "text": "Orofacial cleft 7" }, { - "baseId": "24011|24012|24013|24014|24017|24018|24019|204977|320483|320485|320487|320501|320502|320505|320509|320510|320514|329261|329267|329270|329287|329288|329289|329293|335865|335867|335868|335869|335875|337793|337796|337814|337820|337824|337827|486614|623390|677446|684482|798675|871845|871846|871847|871848|871849|871850|973054", + "upstreamId": "24011|24012|24013|24014|24017|24018|24019|204977|320483|320485|320487|320501|320502|320505|320509|320510|320514|329261|329267|329270|329287|329288|329289|329293|335865|335867|335868|335869|335875|337793|337796|337814|337820|337824|337827|486614|623390|677446|684482|798675|871845|871846|871847|871848|871849|871850|973054", "text": "Benign hereditary chorea" }, { - "baseId": "24015|24016|24017|24018|24020|24021|204977|214542|320483|320485|320487|320501|320502|320505|320509|320510|320514|329261|329267|329270|329287|329288|329289|329293|335865|335867|335868|335869|335875|337793|337796|337814|337820|337824|337827|429557|552175|623380|623381|623390|625814|677056|677446|684480|684482|791400|791401|791402|791403|871845|871846|871847|871848|871849|871850|921217|980949", + "upstreamId": "24015|24016|24017|24018|24020|24021|204977|214542|320483|320485|320487|320501|320502|320505|320509|320510|320514|329261|329267|329270|329287|329288|329289|329293|335865|335867|335868|335869|335875|337793|337796|337814|337820|337824|337827|429557|552175|623380|623381|623390|625814|677056|677446|684480|684482|791400|791401|791402|791403|871845|871846|871847|871848|871849|871850|921217|980949", "text": "Choreoathetosis, hypothyroidism, and neonatal respiratory distress" }, { - "baseId": 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"text": "Acute myeloid leukemia" }, { - "baseId": "24026|24027|24028|24029|24030|24031|24032|24034|24035|24036|44226|45443|305147|305163|305171|305173|305174|305176|305178|305179|305181|305189|305191|308906|308937|308947|308948|314123|314140|314147|314150|314153|314155|314156|314157|314167|314171|357632|441232|544411|544413|544414|544416|544418|544420|544709|544714|544721|544722|544724|544739|544761|544762|544764|544771|544778|544780|544803|544805|544809|544814|577060|620299|637195|700584|723078|723079|736640|744360|766798|766799|899435|899436|899437|899438|899439|899440|899441|899442|899443|899444|899445|899446|899447|899448|899449|899450|899451|899452|899453|899454|899455|899456|899457|900482|900483|900484|978470", + "upstreamId": "24026|24027|24028|24029|24030|24031|24032|24034|24035|24036|44226|45443|305147|305163|305171|305173|305174|305176|305178|305179|305181|305189|305191|308906|308937|308947|308948|314123|314140|314147|314150|314153|314155|314156|314157|314167|314171|357632|441232|544411|544413|544414|544416|544418|544420|544709|544714|544721|544722|544724|544739|544761|544762|544764|544771|544778|544780|544803|544805|544809|544814|577060|620299|637195|700584|723078|723079|736640|744360|766798|766799|899435|899436|899437|899438|899439|899440|899441|899442|899443|899444|899445|899446|899447|899448|899449|899450|899451|899452|899453|899454|899455|899456|899457|900482|900483|900484|978470", "text": "Cholesterol monooxygenase (side-chain cleaving) deficiency" }, { - "baseId": "24038|24039|24040|24041|33486|48576|48577|48578|71504|71505|106658|106659|247752|509056|791895|919821", + "upstreamId": "24038|24039|24040|24041|33486|48576|48577|48578|71504|71505|106658|106659|247752|509056|791895|919821", "text": "BLOOD GROUP--LUTHERAN INHIBITOR" }, { - "baseId": "24042", + "upstreamId": "24042", "text": "HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN, KLF1-RELATED" }, { - "baseId": "24043|24044|24045|24047|24048|24050|24051|24052|24053|24054|24055|24056|24057|39067|39068|39070|45318|45319|45320|142228|165957|165958|165959|165960|168105|168106|188421|188423|188426|188427|188428|207174|239513|239785|239786|244012|248630|251845|267964|368552|369770|394846|395125|395128|395137|395449|395449|454836|454838|454839|454950|455433|455674|455675|455681|509755|509756|509758|509759|509760|509762|511588|513956|521075|521307|521309|521311|521315|521319|521427|521431|521550|521558|559837|560382|560384|563059|563061|565017|565019|633754|633755|633756|633757|633758|633759|651419|679965|749426|765029|765030|765031|819573|819574|830659|830660|830661|830662|830663|830664|830665|830666|830667|830668|830669|830670|830671|924000|924001|932848|932849|932850|932851|932852|932853|932854|932855|944543", + "upstreamId": "24043|24044|24045|24047|24048|24050|24051|24052|24053|24054|24055|24056|24057|39067|39068|39070|45318|45319|45320|142228|165957|165958|165959|165960|168105|168106|188421|188423|188426|188427|188428|207174|239513|239785|239786|244012|248630|251845|267964|368552|369770|394846|395125|395128|395137|395449|395449|454836|454838|454839|454950|455433|455674|455675|455681|509755|509756|509758|509759|509760|509762|511588|513956|521075|521307|521309|521311|521315|521319|521427|521431|521550|521558|559837|560382|560384|563059|563061|565017|565019|633754|633755|633756|633757|633758|633759|651419|679965|749426|765029|765030|765031|819573|819574|830659|830660|830661|830662|830663|830664|830665|830666|830667|830668|830669|830670|830671|924000|924001|932848|932849|932850|932851|932852|932853|932854|932855|944543", "text": "Atrial septal defect 7 with or without atrioventricular conduction defects" }, { - "baseId": "24047|24057|24058", + "upstreamId": "24047|24057|24058", "text": "Hypothyroidism, congenital, nongoitrous, 5" }, { - "baseId": "24047", + "upstreamId": "24047", "text": "Interrupted aortic arch" }, { - "baseId": "24047", + "upstreamId": "24047", "text": "Truncus arteriosus" }, { - "baseId": "24047", + "upstreamId": "24047", "text": "Hypoplastic left heart syndrome 2" }, { - "baseId": "24047|24048|143220|143221|171115|217183|217184|217185|217186|217187|217188|217247|217248|217249|217250|217251|217252|217253|217254|361695|361696|426523|426524|426525|426526|426527|426528|426529|426530|426531|426532|426533|426534", + "upstreamId": "24047|24048|143220|143221|171115|217183|217184|217185|217186|217187|217188|217247|217248|217249|217250|217251|217252|217253|217254|361695|361696|426523|426524|426525|426526|426527|426528|426529|426530|426531|426532|426533|426534", "text": "Congenital heart disease" }, { - "baseId": "24053|24059", + "upstreamId": "24053|24059", "text": "Atrioventricular septal defect, somatic" }, { - "baseId": "24060|24061|24062|24063|24064|24065|24066|24067|24068|190536|195372|264501|264513|266822|307559|307562|307571|307572|307573|307574|307576|307577|311792|311793|311796|311798|311805|311809|311810|311823|311824|311832|311835|317388|317389|317393|317394|317396|317408|317860|317862|317863|317872|317873|444422|502756|502885|583104|723452|767274|767276|775535|901490|901491|901492|901493|901494|901495|901496|901497|901498|901499|901500|901501|901502|901503|901504|901505|901506|901507|901508|901509|901510|901511|901512|901513|901514|901515|901516", + "upstreamId": "24060|24061|24062|24063|24064|24065|24066|24067|24068|190536|195372|264501|264513|266822|307559|307562|307571|307572|307573|307574|307576|307577|311792|311793|311796|311798|311805|311809|311810|311823|311824|311832|311835|317388|317389|317393|317394|317396|317408|317860|317862|317863|317872|317873|444422|502756|502885|583104|723452|767274|767276|775535|901490|901491|901492|901493|901494|901495|901496|901497|901498|901499|901500|901501|901502|901503|901504|901505|901506|901507|901508|901509|901510|901511|901512|901513|901514|901515|901516", "text": "Non-acquired combined pituitary hormone deficiency with spine abnormalities" }, { - "baseId": "24069|24070|24071|24072|24073|39053|39058|39063|39064|53503|457788|536163|858639|920249", + "upstreamId": "24069|24070|24071|24072|24073|39053|39058|39063|39064|53503|457788|536163|858639|920249", "text": "Atrial septal defect 2" }, { - "baseId": "24073|360984", + "upstreamId": "24073|360984", "text": "Tricuspid regurgitation" }, { - "baseId": "24073|48909|49142|181461|188524|485762|980660", + "upstreamId": "24073|48909|49142|181461|188524|485762|980660", "text": "Pulmonic stenosis (disease)" }, { - "baseId": "24073", + "upstreamId": "24073", "text": "Pulmonary valve atresia" }, { - "baseId": 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+ "upstreamId": 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"text": "Atrioventricular septal defect 4" }, { - "baseId": "24074|24077", + "upstreamId": "24074|24077", "text": "Epilepsy, juvenile myoclonic 8" }, { - "baseId": "24074|24075|24076|24077|24077|24078|106501|106502|106503|106504|214419|214420|214421|214422|214423|214424|214425|214426|214427|214428|214429|214430|214431|214432|214433|214434|214435|214436|214437|214438|214439|214440|214441|214442|214443|214444|214445|214446|214447|214448|801547", + "upstreamId": "24074|24075|24076|24077|24077|24078|106501|106502|106503|106504|214419|214420|214421|214422|214423|214424|214425|214426|214427|214428|214429|214430|214431|214432|214433|214434|214435|214436|214437|214438|214439|214440|214441|214442|214443|214444|214445|214446|214447|214448|801547", "text": "Leukoencephalopathy with ataxia" }, { - "baseId": "24075|24077|24077|24078|214448|589827", + "upstreamId": "24075|24077|24077|24078|214448|589827", "text": "Epilepsy with grand mal seizures on awakening" }, { - "baseId": "24076", + "upstreamId": "24076", "text": "Epilepsy, juvenile absence 2" }, { - "baseId": "24077|414926|434792|434793|434794|434795|434796|550235|550239", + "upstreamId": "24077|414926|434792|434793|434794|434795|434796|550235|550239", "text": "Hyperaldosteronism, familial, type II" }, { - "baseId": 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+ "upstreamId": 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"text": "Pitt-Hopkins-like syndrome 2" }, { - "baseId": 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+ "upstreamId": "24082|24085|24086|39038|39039|39040|153737|165689|165690|170197|246906|246906|283683|283685|283690|283692|283696|283702|283703|283703|283706|283706|283707|283707|283708|283708|284355|284356|284358|284361|284370|284378|284378|284382|284382|284383|284385|284386|286348|286350|286354|286356|286358|286359|286359|286360|286362|286366|286368|286368|286371|286372|286372|286373|286373|286374|286374|286378|286379|286380|286703|286705|286708|286711|286712|286714|286714|286717|286717|286719|286719|286724|286729|286729|286732|286732|286734|286734|286741|286742|286750|286751|286752|405526|414861|450165|450165|450340|450469|517473|517475|517560|517561|517596|517597|517597|517751|517762|557800|557802|559021|559510|559512|620045|629241|629242|629243|629244|629245|629246|629247|629248|629249|629250|629251|650934|650935|719485|743858|743869|762743|778989|781101|815887|819094|825519|825520|825521|825522|825523|825524|825525|825526|825527|825528|825529|825530|825531|825532|825533|825534|850870|883090|883091|883092|883093|883094|883095|883096|883097|883098|883099|883100|883101|883102|883103|883104|883105|883106|883107|883108|883109|883110|883111|883112|883113|883114|883115|883116|883117|883118|883119|883120|887226|887227|922499|922500|922501|931065|942534|942535|942536|952869|952870|952871|952872|952873|959617|960460", "text": "Immunodeficiency 31a" }, { - "baseId": "24083|24084|24087|39037|39038|39039|39040|153737|170197|246906|269730|283703|283706|283707|283708|284378|284382|286359|286368|286372|286372|286373|286374|286714|286717|286719|286729|286732|286734|405526|414861|414861|450165|450340|450469|517473|517475|517560|517561|517596|517597|517751|517762|557800|557802|559021|559510|559512|629241|629242|629243|629244|629245|629246|629247|629248|629249|629250|629251|650934|650935|743858|743869|762743|778989|781101|790141|815887|819094|825519|825520|825521|825522|825523|825524|825525|825526|825527|825528|825529|825530|825531|825532|825533|825534|850870|918724|922499|922500|922501|931065|942534|942535|942536|952869|952870|952871|952872|952873|959617|960460", + "upstreamId": "24083|24084|24087|39037|39038|39039|39040|153737|170197|246906|269730|283703|283706|283707|283708|284378|284382|286359|286368|286372|286372|286373|286374|286714|286717|286719|286729|286732|286734|405526|414861|414861|450165|450340|450469|517473|517475|517560|517561|517596|517597|517751|517762|557800|557802|559021|559510|559512|629241|629242|629243|629244|629245|629246|629247|629248|629249|629250|629251|650934|650935|743858|743869|762743|778989|781101|790141|815887|819094|825519|825520|825521|825522|825523|825524|825525|825526|825527|825528|825529|825530|825531|825532|825533|825534|850870|918724|922499|922500|922501|931065|942534|942535|942536|952869|952870|952871|952872|952873|959617|960460", "text": "Mycobacterial and viral infections, susceptibility to, autosomal recessive" }, { - "baseId": "24088|24089|24090|99934|99935|99936|99938|99940|99941|99942|99943|99944|99949|134737|134738|134739|134740|134741|134742|134743|172245|190387|190801|191207|191208|191209|191368|191894|194900|195308|195639|196234|207981|207982|226475|247082|254625|254627|254629|254630|254631|268241|270576|271650|271654|272143|317998|318002|318003|318016|325918|325926|332158|333611|333612|333649|333652|360105|372450|373162|373384|375337|408717|426004|426006|429442|429443|445055|461788|462329|462334|462339|462586|462591|462597|462599|462604|462605|462612|462613|462617|463070|463073|463075|463192|463197|463201|463204|463206|490984|504972|513579|527260|527270|527272|527274|527276|527280|527284|527285|527289|527290|527515|527517|527521|527523|527526|527527|527531|527537|527548|527549|527550|527793|527797|527807|527809|527811|527812|527815|565607|565608|565614|565619|565620|565624|565626|566917|566931|566932|566948|566950|566951|566956|566959|566960|568122|568126|568129|568131|568133|571910|571920|571924|571930|571933|578501|620447|626218|641258|641259|641260|641261|641262|641263|641264|641265|641266|641267|641268|641269|641270|641271|641272|641273|641274|641275|641276|641277|641278|652252|652713|672088|688031|693240|693241|693244|693245|695573|695575|713630|760023|769218|776071|778026|778223|784430|784431|820508|840080|840081|840082|840083|840084|840085|840086|840087|840088|840089|840090|840091|840092|840093|840094|840095|840096|840097|840098|840099|840100|840101|840102|840103|840104|840105|852493|926678|926679|926680|926681|936179|936180|936181|936182|936183|936184|936185|936186|936187|936188|940270|940271|940272|948089|948090|948091|948092|948093|948094|948095|948096|948097|948098|948099|956902|956903|956904|960047|960048|961306", + "upstreamId": "24088|24089|24090|99934|99935|99936|99938|99940|99941|99942|99943|99944|99949|134737|134738|134739|134740|134741|134742|134743|172245|190387|190801|191207|191208|191209|191368|191894|194900|195308|195639|196234|207981|207982|226475|247082|254625|254627|254629|254630|254631|268241|270576|271650|271654|272143|317998|318002|318003|318016|325918|325926|332158|333611|333612|333649|333652|360105|372450|373162|373384|375337|408717|426004|426006|429442|429443|445055|461788|462329|462334|462339|462586|462591|462597|462599|462604|462605|462612|462613|462617|463070|463073|463075|463192|463197|463201|463204|463206|490984|504972|513579|527260|527270|527272|527274|527276|527280|527284|527285|527289|527290|527515|527517|527521|527523|527526|527527|527531|527537|527548|527549|527550|527793|527797|527807|527809|527811|527812|527815|565607|565608|565614|565619|565620|565624|565626|566917|566931|566932|566948|566950|566951|566956|566959|566960|568122|568126|568129|568131|568133|571910|571920|571924|571930|571933|578501|620447|626218|641258|641259|641260|641261|641262|641263|641264|641265|641266|641267|641268|641269|641270|641271|641272|641273|641274|641275|641276|641277|641278|652252|652713|672088|688031|693240|693241|693244|693245|695573|695575|713630|760023|769218|776071|778026|778223|784430|784431|820508|840080|840081|840082|840083|840084|840085|840086|840087|840088|840089|840090|840091|840092|840093|840094|840095|840096|840097|840098|840099|840100|840101|840102|840103|840104|840105|852493|926678|926679|926680|926681|936179|936180|936181|936182|936183|936184|936185|936186|936187|936188|940270|940271|940272|948089|948090|948091|948092|948093|948094|948095|948096|948097|948098|948099|956902|956903|956904|960047|960048|961306", "text": "Muscular dystrophy, congenital, due to integrin alpha-7 deficiency" }, { - "baseId": "24093|24598|24610|24618|33220", + "upstreamId": "24093|24598|24610|24618|33220", "text": "Parkinson disease, mitochondrial" }, { - "baseId": "24093|135149|264825|608862", + "upstreamId": "24093|135149|264825|608862", "text": "Mitochondrial complex 1 deficiency, nuclear type 7" }, { - "baseId": "24095|24096|24097|24098|24099|24628|39034|39035|39036|133969|140175|140176|140177|204412|211400|211402|211404|211406|211407|211408|253581|308856|313494|313499|319282|319291|319293|319298|319923|373084|438413|503456|524673|524908|525195|525198|538409|538410|611362|638393|652055|767501|767502|820168|836280|836281|836282|902461|902462|902463|902464|902465|903441|903442|925634|934826|934827|940157|946680|955899|961798", + "upstreamId": "24095|24096|24097|24098|24099|24628|39034|39035|39036|133969|140175|140176|140177|204412|211400|211402|211404|211406|211407|211408|253581|308856|313494|313499|319282|319291|319293|319298|319923|373084|438413|503456|524673|524908|525195|525198|538409|538410|611362|638393|652055|767501|767502|820168|836280|836281|836282|902461|902462|902463|902464|902465|903441|903442|925634|934826|934827|940157|946680|955899|961798", "text": "3-Methylglutaconic aciduria type 1" }, { - "baseId": "24100|24101|24102|24103|24104|24105|24106|24107|24108|24109|24110|76436|76547|76548|76549|76550|76551|76552|76553|76554|76555|76556|76557|76559|76560|76561|76562|76563|76564|76565|76566|76567|76569|76570|99873|99874|99880|140730|186839|191998|200218|200219|200220|200221|267167|268011|271352|271750|358051|358052|358053|358054|358055|358056|358057|358058|358059|358060|358061|358062|358063|358064|371654|372369|372371|372374|372375|372388|372616|374261|374262|374266|433458|461435|461592|461594|461935|462260|503413|503748|503753|503987|504343|504352|504358|526994|526997|546287|546289|546297|546298|546300|546302|546534|546536|546538|546671|546672|546676|546929|546933|546942|546945|546947|546949|564873|564875|566120|609810|623178|640392|640393|640394|640395|640396|693102|693103|693104|693105|693106|695540|701949|701951|713110|738244|738246|738247|752925|752926|752927|768709|768711|768712|768714|768715|768716|768717|768718|768720|784161|784162|791166|838923|838924|838925|838926|838927|838928|838929|838930|838931|838932|851913|919388|919389|919390|935757|935758|935759|940235|941013|947640|947641|956640|956641|956642|956643|956644|956645|956646|956647|956648|956649", + "upstreamId": "24100|24101|24102|24103|24104|24105|24106|24107|24108|24109|24110|76436|76547|76548|76549|76550|76551|76552|76553|76554|76555|76556|76557|76559|76560|76561|76562|76563|76564|76565|76566|76567|76569|76570|99873|99874|99880|140730|186839|191998|200218|200219|200220|200221|267167|268011|271352|271750|358051|358052|358053|358054|358055|358056|358057|358058|358059|358060|358061|358062|358063|358064|371654|372369|372371|372374|372375|372388|372616|374261|374262|374266|433458|461435|461592|461594|461935|462260|503413|503748|503753|503987|504343|504352|504358|526994|526997|546287|546289|546297|546298|546300|546302|546534|546536|546538|546671|546672|546676|546929|546933|546942|546945|546947|546949|564873|564875|566120|609810|623178|640392|640393|640394|640395|640396|693102|693103|693104|693105|693106|695540|701949|701951|713110|738244|738246|738247|752925|752926|752927|768709|768711|768712|768714|768715|768716|768717|768718|768720|784161|784162|791166|838923|838924|838925|838926|838927|838928|838929|838930|838931|838932|851913|919388|919389|919390|935757|935758|935759|940235|941013|947640|947641|956640|956641|956642|956643|956644|956645|956646|956647|956648|956649", "text": "Carnitine palmitoyltransferase 1A deficiency" }, { - "baseId": "24111|24112|423255|423257|788912", + "upstreamId": "24111|24112|423255|423257|788912", "text": "Tricho-dento-osseous syndrome" }, { - "baseId": "24112|190465|193568|256264|256265|274094|274987|329075|329080|329082|329084|329085|329087|329089|329093|329097|339182|339188|339190|339197|339200|339203|339205|339209|339212|339220|339227|339229|345103|345108|345121|345123|345124|346471|346474|346477|346485|346487|346489|346494|361021|423255|423257|877887|877888|877889|877890|877891|877892|877893|877894|877895|877896|877897|877898|877899|877900|877901|877902|877903|877904|877905|877906|877907|877908|877909|877910|880546", + "upstreamId": "24112|190465|193568|256264|256265|274094|274987|329075|329080|329082|329084|329085|329087|329089|329093|329097|339182|339188|339190|339197|339200|339203|339205|339209|339212|339220|339227|339229|345103|345108|345121|345123|345124|346471|346474|346477|346485|346487|346489|346494|361021|423255|423257|877887|877888|877889|877890|877891|877892|877893|877894|877895|877896|877897|877898|877899|877900|877901|877902|877903|877904|877905|877906|877907|877908|877909|877910|880546", "text": "Amelogenesis imperfecta, type IV" }, { - "baseId": 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"24113|24114|24115|24116|24117|317568|317569|317570|317578|317582|317585|317588|317589|317590|317600|317602|325394|325395|325396|325400|325401|325404|325407|325414|325415|325416|325426|325437|325438|325439|325445|325455|325456|331638|331654|331663|331667|331670|331671|331673|331678|331680|331681|331682|331691|333137|333138|333144|333148|333150|333156|333157|333164|333165|333169|333172|333175|333177|353247|353248|626216|769181|788868|870035|870036|870037|870038|870039|870040|870041|870042|870043|870044|870045|870046|870047|870048|870049|870050|870051|870052|870053|870054|870055|870056|870057|870058|870059|872253|872254|872255|872256|872257", "text": "Anemia, hypochromic microcytic, with iron overload 1" }, { - "baseId": "24118|24119|613440|613441|798461", + "upstreamId": "24118|24119|613440|613441|798461", "text": "Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder" }, { - "baseId": 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"text": "Norman-Roberts syndrome" }, { - "baseId": 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+ "upstreamId": 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"text": "Hyperinsulinemic hypoglycemia, familial, 1" }, { - "baseId": 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hyperinsulinism" }, { - "baseId": "24127|24144|24145|44267|44269|44273|44276|44278|44282|167529|167532|167533|167534|167535|167536|167537|167539|167540|167543|167545|167550|167551|167553|167554|167555|186812|186816|186819|192808|207846|207850|207852|207853|207853|207854|227344|254064|254068|254069|313388|313389|313393|313399|313403|313405|313413|313414|313416|313419|313421|319492|319496|319498|319499|319504|319505|319511|319514|319516|319517|319522|319523|319524|319528|325627|325629|325632|325633|325634|325635|325636|325642|325643|325644|325650|325651|326668|326673|326677|326678|326698|326700|326703|380248|380249|429199|429208|429208|441402|441408|487507|545867|546326|546501|577180|620396|692972|768328|783925|783933|867614|867615|867616|867617|867618|867619|867620|867621|867622|867623|867624|867625|867626|867627|867628|867629|867630|867631|867632|867633|867634|867635|868624|868625|868626|868627|868628|868629", + "upstreamId": "24127|24144|24145|44267|44269|44273|44276|44278|44282|167529|167532|167533|167534|167535|167536|167537|167539|167540|167543|167545|167550|167551|167553|167554|167555|186812|186816|186819|192808|207846|207850|207852|207853|207853|207854|227344|254064|254068|254069|313388|313389|313393|313399|313403|313405|313413|313414|313416|313419|313421|319492|319496|319498|319499|319504|319505|319511|319514|319516|319517|319522|319523|319524|319528|325627|325629|325632|325633|325634|325635|325636|325642|325643|325644|325650|325651|326668|326673|326677|326678|326698|326700|326703|380248|380249|429199|429208|429208|441402|441408|487507|545867|546326|546501|577180|620396|692972|768328|783925|783933|867614|867615|867616|867617|867618|867619|867620|867621|867622|867623|867624|867625|867626|867627|867628|867629|867630|867631|867632|867633|867634|867635|868624|868625|868626|868627|868628|868629", "text": "Transient neonatal diabetes mellitus 2" }, { - "baseId": 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"24137|44278|44282|186816|207853|429199|429208|487507|546326|964358", + "upstreamId": "24137|44278|44282|186816|207853|429199|429208|487507|546326|964358", "text": "Leucine-induced hypoglycemia" }, { - "baseId": "24141|24142|24143|24146|24147|24148|24149|24150|44281", + "upstreamId": "24141|24142|24143|24146|24147|24148|24149|24150|44281", "text": "Permanent neonatal diabetes mellitus 3" }, { - "baseId": 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"24151|24151|24152|24153|24153|24154|24155|24156|24157|24157|24158|24159|89550|141271|141271|171902|171902|171903|171903|191017|191367|191367|191531|191532|191533|191657|191657|191658|191658|192323|195304|195305|195306|195306|195307|195938|195938|200699|214088|214088|214089|214089|214090|214090|215437|215437|230227|231804|231804|231805|231806|231806|231807|231807|231808|231809|231811|231811|237047|237047|237453|244162|244163|244671|244674|244675|244676|244678|244679|244680|244681|244681|244684|244684|244686|244687|244688|244689|244689|244690|244690|244691|244691|244692|244694|244694|244695|244696|244696|254287|254288|254290|254290|254291|254291|254292|254293|254294|254297|254297|254298|254300|254300|254301|254301|254302|254302|254303|254304|254306|254307|254307|254308|254308|254309|254309|254310|254310|254311|268601|268601|268886|268886|270553|272214|272215|272216|272216|273263|273263|314998|315002|315007|315009|315009|315010|315010|315020|315023|315027|315030|315037|321790|321790|321791|321791|321792|321792|321796|321807|321807|321808|321808|321812|321812|321813|321813|321814|321822|321824|321826|321827|327853|327853|327855|327855|327856|327856|327865|327867|327868|327868|327871|327874|327874|327875|327875|327878|327881|327884|328930|328933|328933|328934|328937|328938|328938|328939|328961|328961|328963|328972|328976|328978|328978|328983|328984|328985|328989|328995|329016|329017|359908|359908|360933|360933|372404|372408|372412|372412|372633|372636|372637|372643|372650|372653|374281|374289|374289|413321|415301|425942|426718|426719|433633|433636|433636|441485|441485|441486|441486|444880|444881|461439|461442|461444|461449|461601|461606|461614|461617|461617|461619|461628|461629|461638|461646|461654|461936|461941|461945|461948|461948|461950|461952|462264|462272|462274|462275|462278|462282|462289|480537|482001|482002|488174|488175|488181|488769|492298|503421|503427|503767|503767|503996|504001|504005|504390|511936|511937|512853|514295|526437|526458|526464|526465|526468|526469|526470|526472|526473|526473|526478|526488|526490|526492|526507|526509|526511|526753|526755|526761|526764|526767|527003|527007|527013|527019|527026|527031|527032|527034|527039|527039|527041|552154|552154|564877|564879|564887|564892|564895|564897|564899|564901|566123|566127|566131|566138|566141|566141|566142|566147|566156|566157|566158|567491|567492|567498|567501|567508|567510|567511|567511|567514|567516|569959|570922|570926|570936|570939|570947|570964|570972|570974|570976|570977|608961|611754|625209|625212|625226|625231|625232|625232|625251|625254|625255|625257|640397|640398|640399|640400|640401|640402|640403|640404|640405|640406|640407|640408|640409|640410|640411|640412|640413|640414|640415|640416|640417|640418|640419|640420|640421|640422|640423|640424|640425|640426|640427|640428|640429|640430|640431|640432|640433|640434|640434|654687|683036|693108|693109|693109|701953|730799|744748|768722|768723|768724|768727|784164|784165|815846|838933|838934|838935|838936|838937|838938|838939|838940|838941|838942|838943|838944|838945|838946|838947|838948|838949|838950|838950|838951|838952|838953|838954|838955|838956|838957|838958|838959|838960|838961|838962|838963|838964|838965|838966|838967|838968|838969|838970|838971|838972|852398|868714|868715|868716|868717|868718|868719|868720|868721|868722|868723|868724|868725|868726|868727|868728|868729|868730|868731|868732|868733|868734|868735|868736|868737|905286|926370|926371|926372|926373|926374|926375|926376|926377|926378|926379|935760|935761|935762|935763|935764|935765|935766|935767|935768|935769|941014|947642|947643|947644|947645|947646|947647|947648|947649|947650|956650|956651|956652|956653|956654|956655|960012|960762|970148", "text": "Spinal muscular atrophy, distal, autosomal recessive, 1" }, { - "baseId": 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+ "upstreamId": 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"text": "Charcot-Marie-Tooth disease, axonal, type 2S" }, { - "baseId": "24160|24161|24162|24163|24164|24165|150303|150304|215409|236854|429031|590112|970917", + "upstreamId": "24160|24161|24162|24163|24164|24165|150303|150304|215409|236854|429031|590112|970917", "text": "Hypogonadotropic hypogonadism 6 with or without anosmia" }, { - "baseId": "24165|40253|40254|250134|254031|676956|790036|790934", + "upstreamId": "24165|40253|40254|250134|254031|676956|790036|790934", "text": "Holoprosencephaly 1" }, { - "baseId": "24166|415882|480767|970912", + "upstreamId": "24166|415882|480767|970912", "text": "Obesity, hyperphagia, and developmental delay" }, { - "baseId": "24167|24168|24169|227289|252041|298465|305182|305325|305328|455122|455762|563277|565260|689803|819646|819647|831350", + "upstreamId": "24167|24168|24169|227289|252041|298465|305182|305325|305328|455122|455762|563277|565260|689803|819646|819647|831350", "text": "Cataract 13 with adult i phenotype" }, { - "baseId": "24170|24171", + "upstreamId": "24170|24171", "text": "ADULT i BLOOD GROUP PHENOTYPE" }, { - "baseId": "24172|904212", + "upstreamId": "24172|904212", "text": "Hirschsprung disease, cardiac defects, and autonomic dysfunction" }, { - "baseId": "24173|24174|31043|33104|33107|33108", + "upstreamId": "24173|24174|31043|33104|33107|33108", "text": "Hypertension, essential, susceptibility to" }, { - "baseId": "24175|24178|24179|24180|24181|186762", + "upstreamId": "24175|24178|24179|24180|24181|186762", "text": "Ataxia, Friedreich-like, with isolated vitamin E deficiency" }, { - "baseId": "24175|24176|24178|24179|24180|76497|76498|76499|76500|76503|76504|76505|76506|98779|186762|186763|205158|262263|262264|273731|305702|305704|305711|305713|305723|309719|309722|309723|309728|309729|309730|309733|314935|314938|314944|314946|314949|314950|314953|314955|314956|314963|314964|314968|315033|315035|315041|315076|315077|315080|357633|357634|357635|357636|357637|357638|361111|441239|441241|544455|544457|544461|544746|544751|544756|544798|544799|544852|544853|577065|621284|736729|736732|766871|766873|790813|793287|899902|899903|899904|899905|899906|899907|899908|899909|899910|899911|899912|899913|899914|899915|899916|899917|899918|899919|899920|899921|899922|899923|900510|978472|978473|978474|978475|978476", + "upstreamId": "24175|24176|24178|24179|24180|76497|76498|76499|76500|76503|76504|76505|76506|98779|186762|186763|205158|262263|262264|273731|305702|305704|305711|305713|305723|309719|309722|309723|309728|309729|309730|309733|314935|314938|314944|314946|314949|314950|314953|314955|314956|314963|314964|314968|315033|315035|315041|315076|315077|315080|357633|357634|357635|357636|357637|357638|361111|441239|441241|544455|544457|544461|544746|544751|544756|544798|544799|544852|544853|577065|621284|736729|736732|766871|766873|790813|793287|899902|899903|899904|899905|899906|899907|899908|899909|899910|899911|899912|899913|899914|899915|899916|899917|899918|899919|899920|899921|899922|899923|900510|978472|978473|978474|978475|978476", "text": "Familial isolated deficiency of vitamin E" }, { - "baseId": "24176", + "upstreamId": "24176", "text": "Ataxia and retinitis pigmentosa with isolated vitamin E deficiency" }, { - "baseId": "24182|99484|177941|177942|191518|191777|191777|237062|237123|254715|265975|268050|271271|273778|274070|318444|318456|318472|326590|326599|326608|334477|439240|445085|489752|489752|490942|492197|492198|492687|568171|572034|584575|584615|585129|588040|588243|588871|589317|611777|702506|713741|713742|738864|738865|738866|753604|753608|760252|778118|820436|840260|840261|840262|840263|840264|840265|840266|840267|840268|840269|870428|936258|936259|936260|936261|940274|948153|948154|948155|948156|948157|948158|956935|956936|956937|956938|956939|960058|961789", + "upstreamId": "24182|99484|177941|177942|191518|191777|191777|237062|237123|254715|265975|268050|271271|273778|274070|318444|318456|318472|326590|326599|326608|334477|439240|445085|489752|489752|490942|492197|492198|492687|568171|572034|584575|584615|585129|588040|588243|588871|589317|611777|702506|713741|713742|738864|738865|738866|753604|753608|760252|778118|820436|840260|840261|840262|840263|840264|840265|840266|840267|840268|840269|870428|936258|936259|936260|936261|940274|948153|948154|948155|948156|948157|948158|956935|956936|956937|956938|956939|960058|961789", "text": "Neonatal adrenoleucodystrophy" }, { - "baseId": "24182|24183|191518|191777|191777|237062|237123|254715|254716|254718|268050|271271|273778|274070|318412|318414|318420|318421|318422|318440|318444|318456|318468|318472|318474|318475|318480|318483|326572|326590|326590|326599|326605|326609|326622|326623|326624|326626|326628|332771|332777|332778|332789|332831|332839|332840|332844|332845|332853|332856|332861|332865|332866|334419|334421|334425|334446|334466|334477|334479|334485|334489|334493|334513|334516|334526|334535|334536|445085|489752|490774|568171|588243|702506|713741|738865|870408|870409|870410|870411|870412|870413|870414|870415|870419|870420|870428|870429|870430|870431|870432|870433|870434|870435|870436|870437|870438|870439|870440|870441|870442|870443|870444|872289|872292|872293|961789", + "upstreamId": "24182|24183|191518|191777|191777|237062|237123|254715|254716|254718|268050|271271|273778|274070|318412|318414|318420|318421|318422|318440|318444|318456|318468|318472|318474|318475|318480|318483|326572|326590|326590|326599|326605|326609|326622|326623|326624|326626|326628|332771|332777|332778|332789|332831|332839|332840|332844|332845|332853|332856|332861|332865|332866|334419|334421|334425|334446|334466|334477|334479|334485|334489|334493|334513|334516|334526|334535|334536|445085|489752|490774|568171|588243|702506|713741|738865|870408|870409|870410|870411|870412|870413|870414|870415|870419|870420|870428|870429|870430|870431|870432|870433|870434|870435|870436|870437|870438|870439|870440|870441|870442|870443|870444|872289|872292|872293|961789", "text": "Peroxisome biogenesis disorder 2A (Zellweger)" }, { - "baseId": "24184|24185|24186|24187|34586|34587|90780|152879|190635|190636|193731|194525|214078|238076|255346|255348|255356|323310|323320|323323|323325|323328|323337|323339|323346|332989|332991|332995|339852|339853|339855|339856|339859|339861|341271|341275|341278|341280|384491|400478|429716|620528|622428|672023|690116|788890|842667|874074|874075|874076|874077|874078|874079|874080|874081|874082|874083|874084|874085|874086|874087|874088|874089|874090|876565|919594", + "upstreamId": "24184|24185|24186|24187|34586|34587|90780|152879|190635|190636|193731|194525|214078|238076|255346|255348|255356|323310|323320|323323|323325|323328|323337|323339|323346|332989|332991|332995|339852|339853|339855|339856|339859|339861|341271|341275|341278|341280|384491|400478|429716|620528|622428|672023|690116|788890|842667|874074|874075|874076|874077|874078|874079|874080|874081|874082|874083|874084|874085|874086|874087|874088|874089|874090|876565|919594", "text": "Bardet-Biedl syndrome 4" }, { - "baseId": "24188|142851|211657|318776|318777|318779|318780|318782|318783|327125|327126|327128|327137|333233|333244|333255|333257|333258|333259|334960|334965|334966|334967|504138|870601|870602|870603|870604|870605|870606|870607|870608|870609|870610|870611|919474|965592|965594", + "upstreamId": "24188|142851|211657|318776|318777|318779|318780|318782|318783|327125|327126|327128|327137|333233|333244|333255|333257|333258|333259|334960|334965|334966|334967|504138|870601|870602|870603|870604|870605|870606|870607|870608|870609|870610|870611|919474|965592|965594", "text": "Mitochondrial phosphate carrier deficiency" }, { - "baseId": "24189|24190|24191|152880|177235|177758|193428|195239|227146|227147|252354|254464|300123|300125|302849|302851|302852|302854|302855|302858|307228|307229|307231|307237|307238|307241|307470|307471|307480|316421|316461|323958|323963|324015|329992|330003|331332|331346|331361|331368|353771|353775|446828|612638|790627|818246|831944|856439|895972|895973|895974|896255|896256|896257|896258|896259|896260|896261|896262|896263|896264|896265|900228|945027|963226|963227|963228|963229|963230|963231|963232|963233|963234|963235", + "upstreamId": "24189|24190|24191|152880|177235|177758|193428|195239|227146|227147|252354|254464|300123|300125|302849|302851|302852|302854|302855|302858|307228|307229|307231|307237|307238|307241|307470|307471|307480|316421|316461|323958|323963|324015|329992|330003|331332|331346|331361|331368|353771|353775|446828|612638|790627|818246|831944|856439|895972|895973|895974|896255|896256|896257|896258|896259|896260|896261|896262|896263|896264|896265|900228|945027|963226|963227|963228|963229|963230|963231|963232|963233|963234|963235", "text": "Cone dystrophy 3" }, { - "baseId": "24192|24193|24194|24195|24196|24197|24198|24199|24200|24201|75357|227343|313239|313244|313252|313253|313256|319364|319377|319381|319382|319387|325500|325501|325502|325506|326449|326462|326469|326470|326471|360797|441396|441397|514623|620393|620394|682321|752538|838116|858565|858566|859846|867547|867548|867549|867550|867551|867552|867553|867554|867555|867556|867557|867558|867559|969607|976530", + "upstreamId": "24192|24193|24194|24195|24196|24197|24198|24199|24200|24201|75357|227343|313239|313244|313252|313253|313256|319364|319377|319381|319382|319387|325500|325501|325502|325506|326449|326462|326469|326470|326471|360797|441396|441397|514623|620393|620394|682321|752538|838116|858565|858566|859846|867547|867548|867549|867550|867551|867552|867553|867554|867555|867556|867557|867558|867559|969607|976530", "text": "Bartter syndrome, type 2, antenatal" }, { - "baseId": "24202|24205|24206|24210|24216|24218|24219|424702|576822|576823|621743|622775|622776|679853|917787|917788|961847|971379|971380", + "upstreamId": "24202|24205|24206|24210|24216|24218|24219|424702|576822|576823|621743|622775|622776|679853|917787|917788|961847|971379|971380", "text": "Werdnig-Hoffmann disease" }, { - "baseId": "24203|24207|24208|24212|24214|24216|424702|622772|622775|622780", + "upstreamId": "24203|24207|24208|24212|24214|24216|424702|622772|622775|622780", "text": "Spinal muscular atrophy, type II" }, { - "baseId": "24220|24221|178015|919298", + "upstreamId": "24220|24221|178015|919298", "text": "Retinitis pigmentosa 44" }, { - "baseId": "24222|24223|24224|24225|24227|24230|24231|24232|24233|24234|24235|44146|49409|49410|49412|49413|49414|49415|49416|49417|49418|49419|194788|256835|256836|256840|256841|256842|332896|332899|332902|332903|332904|332908|332910|332913|332926|332927|332933|343078|343080|343082|343086|348422|348423|348428|348435|348438|348440|348444|349576|349577|349579|349581|349583|353490|423253|432471|489146|704863|704864|741733|791918|791919|791920|791921|798742|806428|806429|806430|806431|806432|880184|880186|880187|880188|880189|880190|880191|880193|880194|880195|880196|880197|880198|880199|880200|880201|880202|880203|880204|880722|880723|880724|880725", + "upstreamId": "24222|24223|24224|24225|24227|24230|24231|24232|24233|24234|24235|44146|49409|49410|49412|49413|49414|49415|49416|49417|49418|49419|194788|256835|256836|256840|256841|256842|332896|332899|332902|332903|332904|332908|332910|332913|332926|332927|332933|343078|343080|343082|343086|348422|348423|348428|348435|348438|348440|348444|349576|349577|349579|349581|349583|353490|423253|432471|489146|704863|704864|741733|791918|791919|791920|791921|798742|806428|806429|806430|806431|806432|880184|880186|880187|880188|880189|880190|880191|880193|880194|880195|880196|880197|880198|880199|880200|880201|880202|880203|880204|880722|880723|880724|880725", "text": "Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome" }, { - "baseId": "24226|24229", + "upstreamId": "24226|24229", "text": "Epiphyseal dysplasia, multiple, 1, severe" }, { - "baseId": "24228|24232|24236|24237|49409|49416|49417|76461|76462|76463|76464|76465|194788|256835|256836|256840|256841|256842|332896|332899|332902|332903|332904|332908|332910|332913|332926|332927|332933|343078|343080|343082|343086|348422|348423|348428|348435|348438|348440|348444|349576|349577|349579|349581|349583|423253|432471|489146|612108|623352|679807|679808|679809|704863|704864|741733|798743|880184|880186|880187|880188|880189|880190|880191|880193|880194|880195|880196|880197|880198|880199|880200|880201|880202|880203|880204|880722|880723|880724|880725|977292|980388", + "upstreamId": "24228|24232|24236|24237|49409|49416|49417|76461|76462|76463|76464|76465|194788|256835|256836|256840|256841|256842|332896|332899|332902|332903|332904|332908|332910|332913|332926|332927|332933|343078|343080|343082|343086|348422|348423|348428|348435|348438|348440|348444|349576|349577|349579|349581|349583|423253|432471|489146|612108|623352|679807|679808|679809|704863|704864|741733|798743|880184|880186|880187|880188|880189|880190|880191|880193|880194|880195|880196|880197|880198|880199|880200|880201|880202|880203|880204|880722|880723|880724|880725|977292|980388", "text": "Multiple epiphyseal dysplasia 1" }, { - "baseId": "24233", + "upstreamId": "24233", "text": "Pseudoachondroplasia, severe" }, { - "baseId": "24237|983299", + "upstreamId": "24237|983299", "text": "CARPAL TUNNEL SYNDROME 2" }, { - "baseId": "24238|24239|24241|24242|199792|265414|309641|309642|309644|309646|309647|309649|309653|309655|309656|309659|309661|309665|309669|309670|309671|309677|309678|309682|309686|309689|309691|314449|314454|314462|314472|314474|314481|314482|314485|314486|314487|314488|314489|314492|314493|314494|314495|314502|314514|314520|314526|314529|314530|314534|314538|314545|314546|320498|320504|320513|320516|320517|320520|320526|320527|320530|320532|320535|320536|320545|320547|320555|320556|320557|320559|320561|320565|320582|320589|320590|320600|320601|320603|320605|320612|321002|321010|321011|321012|321014|321017|321019|321025|321052|321057|321058|321061|321065|321066|321074|321076|321077|321083|321084|321085|321087|321092|321101|321106|321114|321118|353122|364182|444567|459709|460622|525010|525215|563608|566105|566199|569551|620346|620818|638762|638763|638764|638765|638766|638767|638768|638769|692795|692796|723825|737390|790943|836687|836688|836689|836690|861586|865534|865535|865536|865537|865538|865539|865540|865541|865542|865543|865544|865545|865546|865547|865548|865549|865550|865551|865552|865553|865554|865555|865556|865557|865558|865559|865560|865561|865562|865563|865564|865565|865566|865567|865568|865569|868455|925761", + "upstreamId": "24238|24239|24241|24242|199792|265414|309641|309642|309644|309646|309647|309649|309653|309655|309656|309659|309661|309665|309669|309670|309671|309677|309678|309682|309686|309689|309691|314449|314454|314462|314472|314474|314481|314482|314485|314486|314487|314488|314489|314492|314493|314494|314495|314502|314514|314520|314526|314529|314530|314534|314538|314545|314546|320498|320504|320513|320516|320517|320520|320526|320527|320530|320532|320535|320536|320545|320547|320555|320556|320557|320559|320561|320565|320582|320589|320590|320600|320601|320603|320605|320612|321002|321010|321011|321012|321014|321017|321019|321025|321052|321057|321058|321061|321065|321066|321074|321076|321077|321083|321084|321085|321087|321092|321101|321106|321114|321118|353122|364182|444567|459709|460622|525010|525215|563608|566105|566199|569551|620346|620818|638762|638763|638764|638765|638766|638767|638768|638769|692795|692796|723825|737390|790943|836687|836688|836689|836690|861586|865534|865535|865536|865537|865538|865539|865540|865541|865542|865543|865544|865545|865546|865547|865548|865549|865550|865551|865552|865553|865554|865555|865556|865557|865558|865559|865560|865561|865562|865563|865564|865565|865566|865567|865568|865569|868455|925761", "text": "Deficiency of 2-methylbutyryl-CoA dehydrogenase" }, { - "baseId": "24243|24245|24247|24248|141142|141142|141143|141144|141145|141146|141147|141147|186076|191530|205754|212578|213574|221697|221699|244499|245262|252786|252786|252788|252790|252795|252795|302780|302781|302785|302795|302796|302798|306103|306109|306110|306131|306135|306149|306154|310897|310901|310902|310903|310904|310905|310906|310908|310909|311055|311072|311080|311081|311082|311085|311086|311087|311089|311090|395627|395871|407124|425751|434618|457340|636133|683004|800399|833570|897972|897973|897974|897975|897976|897977|897978|897979|897980|897981|897982|897983|900352|973006", + "upstreamId": "24243|24245|24247|24248|141142|141142|141143|141144|141145|141146|141147|141147|186076|191530|205754|212578|213574|221697|221699|244499|245262|252786|252786|252788|252790|252795|252795|302780|302781|302785|302795|302796|302798|306103|306109|306110|306131|306135|306149|306154|310897|310901|310902|310903|310904|310905|310906|310908|310909|311055|311072|311080|311081|311082|311085|311086|311087|311089|311090|395627|395871|407124|425751|434618|457340|636133|683004|800399|833570|897972|897973|897974|897975|897976|897977|897978|897979|897980|897981|897982|897983|900352|973006", "text": "Charcot-Marie-Tooth disease type 2D" }, { - "baseId": "24249|24250|24251|24253|24254|24255|45006|45007|45008|45009|45009|45010|45011|45012|45014|45015|45016|45017|45018|45019|45020|45021|45022|45023|45024|45025|45026|45027|45028|45030|134684|134686|165951|165951|208662|208663|335452|335454|335461|335462|335465|335467|335470|335479|335495|335497|335506|335507|335519|335521|335523|345257|345263|345264|345266|345268|345270|345275|345281|345285|345287|345289|345293|345301|345302|345305|345307|349981|349986|349987|349989|349990|349992|349994|349995|349999|350000|350006|350009|350985|350987|350988|350991|350992|350995|350998|350999|351002|351003|351004|351007|351010|351021|351024|384504|424389|430313|430314|431538|486284|507169|507770|577852|577863|578356|609055|609056|609057|620658|622122|654702|760954|793843|886111|886112|886113|886114|886115|886116|886117|886118|886119|886120|886121|886122|886123|886124|886125|886126|886127|886128|886129|886130|886131|886132|886133|886134|886135|886136|886137|886138|886139|886140|886141|886142|886143|886144|886145|886146|887460|961137|961138|961139", + "upstreamId": "24249|24250|24251|24253|24254|24255|45006|45007|45008|45009|45009|45010|45011|45012|45014|45015|45016|45017|45018|45019|45020|45021|45022|45023|45024|45025|45026|45027|45028|45030|134684|134686|165951|165951|208662|208663|335452|335454|335461|335462|335465|335467|335470|335479|335495|335497|335506|335507|335519|335521|335523|345257|345263|345264|345266|345268|345270|345275|345281|345285|345287|345289|345293|345301|345302|345305|345307|349981|349986|349987|349989|349990|349992|349994|349995|349999|350000|350006|350009|350985|350987|350988|350991|350992|350995|350998|350999|351002|351003|351004|351007|351010|351021|351024|384504|424389|430313|430314|431538|486284|507169|507770|577852|577863|578356|609055|609056|609057|620658|622122|654702|760954|793843|886111|886112|886113|886114|886115|886116|886117|886118|886119|886120|886121|886122|886123|886124|886125|886126|886127|886128|886129|886130|886131|886132|886133|886134|886135|886136|886137|886138|886139|886140|886141|886142|886143|886144|886145|886146|887460|961137|961138|961139", "text": "Maturity-onset diabetes of the young, type 1" }, { - "baseId": "24256|39017|249475|265897|266270|268287|272011|272608|275265|276854|276855|276856|276857|276858|276861|276863|276877|276878|277144|277145|277150|277152|277156|277157|277161|277163|277711|277712|277714|277725|277726|277728|277760|277762|277763|277801|277803|277805|277826|277829|277830|277831|277837|277841|277842|277843|277844|277848|277864|277874|277876|277886|489566|490681|490821|491361|492180|556715|586959|587020|588362|620706|822906|822907|822908|822909|862560|862561|862562|862563|862564|862565|862566|862567|862568|862569|862570|862571|862572|862573|862574|862575|862576|862577|865019|930109|941532|941533|941534", + "upstreamId": "24256|39017|249475|265897|266270|268287|272011|272608|275265|276854|276855|276856|276857|276858|276861|276863|276877|276878|277144|277145|277150|277152|277156|277157|277161|277163|277711|277712|277714|277725|277726|277728|277760|277762|277763|277801|277803|277805|277826|277829|277830|277831|277837|277841|277842|277843|277844|277848|277864|277874|277876|277886|489566|490681|490821|491361|492180|556715|586959|587020|588362|620706|822906|822907|822908|822909|862560|862561|862562|862563|862564|862565|862566|862567|862568|862569|862570|862571|862572|862573|862574|862575|862576|862577|865019|930109|941532|941533|941534", "text": "Peroxisome biogenesis disorder 12A" }, { - "baseId": "24257|24258|24259|24260|24261|24262|24263|24264|24265|24266|24267|106815|106815|205022|213652|214545|256790|256791|256792|256793|256794|256795|256796|256797|256798|256799|256800|256801|256803|256804|256805|256806|256808|256810|256811|256812|256813|256814|256816|256817|256819|256820|256821|256822|256823|256824|256825|256826|332706|332715|332717|332719|332721|332724|332725|332726|332731|332741|332746|332748|332751|332763|332764|332766|342885|342887|342889|342890|342893|342898|342900|342902|342904|342914|342916|342918|342922|342924|342926|342928|348234|348239|348243|348244|348248|348249|348253|348256|348257|348261|348262|348266|348268|348270|349434|349437|349438|349439|349441|349442|349445|349448|349453|349455|349456|349458|349460|349462|349463|349465|349466|349468|349469|349472|361523|413498|442090|442091|442092|442096|442109|442110|442116|442131|442136|442138|442147|442152|442156|442159|442166|442168|442168|442171|442177|442180|442184|442186|442187|513142|513143|536981|536981|537323|577758|620630|677047|694339|694345|694347|716233|716234|727962|727968|741654|786098|791908|791909|791910|791911|793750|793758|793763|793764|793769|797760|797761|799024|799025|799026|799027|799028|858383|861655|880013|880014|880015|880016|880017|880018|880019|880020|880021|880022|880023|880024|880025|880026|880027|880028|880029|880030|880031|880032|880033|880034|880035|880036|880037|880038|880039|880040|880041|880042|880043|880044|880045|880046|880047|880048|880049|880050|880051|880052|880053|880054|880055|880056|880057|880058|880059|880060|880061|880062|880063|880064|880065|880066|880067|880704|880705|880706|880707|880708|919834|919835|919836|919837|919838|919839|920402|920403|961018|964513|964514|964515|964516|971121", + "upstreamId": "24257|24258|24259|24260|24261|24262|24263|24264|24265|24266|24267|106815|106815|205022|213652|214545|256790|256791|256792|256793|256794|256795|256796|256797|256798|256799|256800|256801|256803|256804|256805|256806|256808|256810|256811|256812|256813|256814|256816|256817|256819|256820|256821|256822|256823|256824|256825|256826|332706|332715|332717|332719|332721|332724|332725|332726|332731|332741|332746|332748|332751|332763|332764|332766|342885|342887|342889|342890|342893|342898|342900|342902|342904|342914|342916|342918|342922|342924|342926|342928|348234|348239|348243|348244|348248|348249|348253|348256|348257|348261|348262|348266|348268|348270|349434|349437|349438|349439|349441|349442|349445|349448|349453|349455|349456|349458|349460|349462|349463|349465|349466|349468|349469|349472|361523|413498|442090|442091|442092|442096|442109|442110|442116|442131|442136|442138|442147|442152|442156|442159|442166|442168|442168|442171|442177|442180|442184|442186|442187|513142|513143|536981|536981|537323|577758|620630|677047|694339|694345|694347|716233|716234|727962|727968|741654|786098|791908|791909|791910|791911|793750|793758|793763|793764|793769|797760|797761|799024|799025|799026|799027|799028|858383|861655|880013|880014|880015|880016|880017|880018|880019|880020|880021|880022|880023|880024|880025|880026|880027|880028|880029|880030|880031|880032|880033|880034|880035|880036|880037|880038|880039|880040|880041|880042|880043|880044|880045|880046|880047|880048|880049|880050|880051|880052|880053|880054|880055|880056|880057|880058|880059|880060|880061|880062|880063|880064|880065|880066|880067|880704|880705|880706|880707|880708|919834|919835|919836|919837|919838|919839|920402|920403|961018|964513|964514|964515|964516|971121", "text": "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy type 1" }, { - "baseId": "24258", + "upstreamId": "24258", "text": "Migraine without aura" }, { - "baseId": "24264", + "upstreamId": "24264", "text": "Recurrent subcortical infarcts" }, { - "baseId": "24268|24269|138704|275435|590450|623235|672207|672208|800389|818155|818156|918548|977167", + "upstreamId": "24268|24269|138704|275435|590450|623235|672207|672208|800389|818155|818156|918548|977167", "text": "Alagille syndrome 2" }, { - "baseId": "24270", + "upstreamId": "24270", "text": "Hypotrichosis and recurrent skin vesicles" }, { - "baseId": "24271", + "upstreamId": "24271", "text": "Mycobacterium tuberculosis, susceptibility to infection by" }, { - "baseId": "24272", + "upstreamId": "24272", "text": "Buruli ulcer, susceptibility to" }, { - "baseId": "24273|24274|24276|24283|24284|24288|96770|96771|96791|96805|96813|190109", + "upstreamId": "24273|24274|24276|24283|24284|24288|96770|96771|96791|96805|96813|190109", "text": "MISMATCH REPAIR CANCER SYNDROME 4" }, { - "baseId": "24273|24276|24279|24281|24282|24283|24284|24284|45346|45348|45349|45350|45350|45351|45352|45353|45354|50140|50141|50142|50143|50144|50145|50146|50147|50148|50148|50152|50153|50153|50154|50155|50156|50157|50160|50161|96752|96754|96766|96773|96774|96779|96781|96786|96790|96792|96793|96796|96798|96799|96802|96804|96805|96806|96808|96809|96812|96815|96818|96825|96830|96836|96841|96841|96843|96850|96851|96852|96857|96857|99143|133208|133209|133218|133219|133220|133227|133227|133230|133234|133237|133237|133243|133245|133248|133248|133249|133249|133250|133251|133252|133252|133253|133253|133255|133255|133259|136478|138804|138805|138808|138809|139651|139651|139653|139655|142401|142403|142404|142406|142409|150545|150594|150877|151108|151237|151369|151374|151378|151397|151546|151780|151971|152135|152275|152290|152291|152291|152349|152385|152385|152479|152589|152673|152674|180259|180263|180265|180267|180268|180273|180273|182687|182691|182697|182710|182723|182725|182727|182738|182738|182748|182751|182761|182763|182764|182770|182771|182772|182774|182777|182782|182786|182793|182795|182798|182807|182807|182808|182811|182812|182817|182820|182823|182824|186085|190025|195590|212589|212598|212599|212609|212611|212612|215365|215366|221705|221705|221713|221713|221723|221725|221733|221735|221736|231655|231678|231688|231692|231698|233490|233494|233515|233525|233527|233528|233547|233549|233550|233555|233555|233557|233568|233589|233597|240109|240126|240130|240145|240146|240147|303242|306557|311471|311622|311623|358801|358802|358803|395732|395935|395978|396076|396106|396349|396360|407182|407204|409030|432648|432650|456778|456783|457251|457842|457889|474555|474569|474600|474639|482711|483958|483975|484009|484132|484145|523007|523324|539261|539262|539263|539264|539265|539266|539267|539268|539269|539270|539271|561683|575783|576260|623314|636292|790739|790740|790741|790742|790743|790744|790745|790746|790747|790748|898280|898281|900383|900384|967150|967186|970862", + "upstreamId": "24273|24276|24279|24281|24282|24283|24284|24284|45346|45348|45349|45350|45350|45351|45352|45353|45354|50140|50141|50142|50143|50144|50145|50146|50147|50148|50148|50152|50153|50153|50154|50155|50156|50157|50160|50161|96752|96754|96766|96773|96774|96779|96781|96786|96790|96792|96793|96796|96798|96799|96802|96804|96805|96806|96808|96809|96812|96815|96818|96825|96830|96836|96841|96841|96843|96850|96851|96852|96857|96857|99143|133208|133209|133218|133219|133220|133227|133227|133230|133234|133237|133237|133243|133245|133248|133248|133249|133249|133250|133251|133252|133252|133253|133253|133255|133255|133259|136478|138804|138805|138808|138809|139651|139651|139653|139655|142401|142403|142404|142406|142409|150545|150594|150877|151108|151237|151369|151374|151378|151397|151546|151780|151971|152135|152275|152290|152291|152291|152349|152385|152385|152479|152589|152673|152674|180259|180263|180265|180267|180268|180273|180273|182687|182691|182697|182710|182723|182725|182727|182738|182738|182748|182751|182761|182763|182764|182770|182771|182772|182774|182777|182782|182786|182793|182795|182798|182807|182807|182808|182811|182812|182817|182820|182823|182824|186085|190025|195590|212589|212598|212599|212609|212611|212612|215365|215366|221705|221705|221713|221713|221723|221725|221733|221735|221736|231655|231678|231688|231692|231698|233490|233494|233515|233525|233527|233528|233547|233549|233550|233555|233555|233557|233568|233589|233597|240109|240126|240130|240145|240146|240147|303242|306557|311471|311622|311623|358801|358802|358803|395732|395935|395978|396076|396106|396349|396360|407182|407204|409030|432648|432650|456778|456783|457251|457842|457889|474555|474569|474600|474639|482711|483958|483975|484009|484132|484145|523007|523324|539261|539262|539263|539264|539265|539266|539267|539268|539269|539270|539271|561683|575783|576260|623314|636292|790739|790740|790741|790742|790743|790744|790745|790746|790747|790748|898280|898281|900383|900384|967150|967186|970862", "text": "Hereditary nonpolyposis colorectal cancer type 4" }, { - "baseId": "24284|46484", + "upstreamId": "24284|46484", "text": "Pituitary carcinoma" }, { - "baseId": "24290", + "upstreamId": "24290", "text": "Systemic lupus erythematosus, association wit 2" }, { - "baseId": "24291|24291|24292|27922|27923|27924|27925|27926|27930|27931|75309|79394|79406|79454|79474|79478|79482|79484|79517|79520|79534|79540|79545|79552|79556|79557|79558|99386|135657|142693|142696|142698|142705|178737|188676|188677|188682|188684|188693|188702|256855|256856|333128|333131|343244|348589|349668|349669|507247|572346|574937|587697|611431|614064|626118|682721|802062|805109|880288|880289|880290|880291|880292|880293|880294|880295|880296|880297|880298|880299|880300|880301|880302|880303|880304|880305|880306|880307|880729|904067|964521", + "upstreamId": "24291|24291|24292|27922|27923|27924|27925|27926|27930|27931|75309|79394|79406|79454|79474|79478|79482|79484|79517|79520|79534|79540|79545|79552|79556|79557|79558|99386|135657|142693|142696|142698|142705|178737|188676|188677|188682|188684|188693|188702|256855|256856|333128|333131|343244|348589|349668|349669|507247|572346|574937|587697|611431|614064|626118|682721|802062|805109|880288|880289|880290|880291|880292|880293|880294|880295|880296|880297|880298|880299|880300|880301|880302|880303|880304|880305|880306|880307|880729|904067|964521", "text": "Generalized epilepsy with febrile seizures plus, type 1" }, { - "baseId": "24291|45413|45414|178058|191370|273736|282565|282594|283206|283227|283258|283267|283293|283322|284810|285355|285356|296799|298652|302896|906365|906366|906367|906368|906369|906370|906371|906372", + "upstreamId": "24291|45413|45414|178058|191370|273736|282565|282594|283206|283227|283258|283267|283293|283322|284810|285355|285356|296799|298652|302896|906365|906366|906367|906368|906369|906370|906371|906372", "text": "Generalized epilepsy with febrile seizures plus" }, { - "baseId": "24291|24291|75309|75309|75310|188677|188682|188693|574937|611431", + "upstreamId": "24291|24291|75309|75309|75310|188677|188682|188693|574937|611431", "text": "Atrial fibrillation, familial, 13" }, { - "baseId": "24291|24291|24293|45417|75309|75309|99386|135657|142693|142695|142696|142698|142699|142700|142701|142702|142703|142705|142708|178737|178738|188675|188676|188677|188677|188681|188682|188682|188683|188684|188685|188686|188688|188689|188690|188692|188693|188694|188695|188696|188697|188702|188703|188704|188707|188708|243330|243331|256855|256856|266971|268778|333128|333131|343244|348589|349668|349669|377372|377574|377579|377590|403241|403285|403289|403290|403733|403735|403741|403752|430178|442194|468632|468634|468637|468638|469629|469632|469636|469644|469647|469648|470044|470620|482189|495524|507247|532844|532849|532926|532928|533298|572346|572712|573032|574937|574937|574938|587697|611431|611431|624878|647936|647937|647938|647939|647940|647941|684785|694375|694376|695818|741775|805109|847532|847533|847534|847535|847536|847537|847538|847539|847540|847541|847542|847543|851809|852862|880288|880289|880290|880291|880292|880293|880294|880295|880296|880297|880298|880299|880300|880301|880302|880303|880304|880305|880306|880307|880729|928928|938644|938645|938646|938647|938648|938649|938650|940480|950749|950750|958597|958598|971125", + "upstreamId": "24291|24291|24293|45417|75309|75309|99386|135657|142693|142695|142696|142698|142699|142700|142701|142702|142703|142705|142708|178737|178738|188675|188676|188677|188677|188681|188682|188682|188683|188684|188685|188686|188688|188689|188690|188692|188693|188694|188695|188696|188697|188702|188703|188704|188707|188708|243330|243331|256855|256856|266971|268778|333128|333131|343244|348589|349668|349669|377372|377574|377579|377590|403241|403285|403289|403290|403733|403735|403741|403752|430178|442194|468632|468634|468637|468638|469629|469632|469636|469644|469647|469648|470044|470620|482189|495524|507247|532844|532849|532926|532928|533298|572346|572712|573032|574937|574937|574938|587697|611431|611431|624878|647936|647937|647938|647939|647940|647941|684785|694375|694376|695818|741775|805109|847532|847533|847534|847535|847536|847537|847538|847539|847540|847541|847542|847543|851809|852862|880288|880289|880290|880291|880292|880293|880294|880295|880296|880297|880298|880299|880300|880301|880302|880303|880304|880305|880306|880307|880729|928928|938644|938645|938646|938647|938648|938649|938650|940480|950749|950750|958597|958598|971125", "text": "Brugada syndrome 5" }, { - "baseId": "24291|75309|188677|188682|188693|362555|362556|574937|611431|682721|682722", + "upstreamId": "24291|75309|188677|188682|188693|362555|362556|574937|611431|682721|682722", "text": "Epileptic encephalopathy, early infantile, 52" }, { - "baseId": "24294|24295|24425|24434|24437|78668|78824|78831|78924|78928|224179|224386|224557", + "upstreamId": "24294|24295|24425|24434|24437|78668|78824|78831|78924|78928|224179|224386|224557", "text": "Cardiac conduction defect, nonspecific" }, { - "baseId": "24296|24297|24298|24299|24300|24301|199940|199941|199942|276193|276194|276207|276208|276210|276211|276213|276455|276465|276469|276471|276472|276840|276843|276847|276859|276923|276926|276928|276932|276933|276942|276948|353052|364392|414725|442601|447166|481400|481401|556607|556895|558008|581744|587944|609346|626728|626729|626730|626731|626732|626733|650519|650617|718145|815883|818844|822619|822620|822621|822622|822623|850710|858543|858544|862111|862112|862113|862114|862115|862116|862118|862121|862122|862123|862124|862125|862126|864968|864969|903500|921610|940599|941407|941408|941409|941410|941411|952038", + "upstreamId": "24296|24297|24298|24299|24300|24301|199940|199941|199942|276193|276194|276207|276208|276210|276211|276213|276455|276465|276469|276471|276472|276840|276843|276847|276859|276923|276926|276928|276932|276933|276942|276948|353052|364392|414725|442601|447166|481400|481401|556607|556895|558008|581744|587944|609346|626728|626729|626730|626731|626732|626733|650519|650617|718145|815883|818844|822619|822620|822621|822622|822623|850710|858543|858544|862111|862112|862113|862114|862115|862116|862118|862121|862122|862123|862124|862125|862126|864968|864969|903500|921610|940599|941407|941408|941409|941410|941411|952038", "text": "mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency" }, { - "baseId": "24307|24308|24309|175749|175889|191353|193465|193466|230335|230338|318246|318248|318254|318256|318260|318268|318271|318273|318280|318282|318283|318284|318285|326232|326237|326241|326243|326249|326253|326259|326263|332508|332511|332523|332532|332536|332540|332543|332548|332550|334121|334122|334123|334124|334131|334139|334143|334146|334150|334151|334153|578502|578503|582711|620454|713693|725223|753541|753543|870271|870272|870273|870274|870275|870276|870277|870278|870279|870280|870281|870282|870283|870284|870285|870286|870287|870288|870289|872282|872283", + "upstreamId": "24307|24308|24309|175749|175889|191353|193465|193466|230335|230338|318246|318248|318254|318256|318260|318268|318271|318273|318280|318282|318283|318284|318285|326232|326237|326241|326243|326249|326253|326259|326263|332508|332511|332523|332532|332536|332540|332543|332548|332550|334121|334122|334123|334124|334131|334139|334143|334146|334150|334151|334153|578502|578503|582711|620454|713693|725223|753541|753543|870271|870272|870273|870274|870275|870276|870277|870278|870279|870280|870281|870282|870283|870284|870285|870286|870287|870288|870289|872282|872283", "text": "Bronchiectasis with or without elevated sweat chloride 2" }, { - "baseId": "24310|24311|24312|24313|24314|24315|24316|24317|24318|24321|24322|24322|24323|24324|24327|24328|24330|171166|171167|171167|254991|254992|260057|260057|320705|320709|320715|320716|320717|320722|320723|320723|320725|320725|320735|320736|329510|329511|329514|329519|329520|329523|329532|329537|329538|329538|329541|329558|329560|336147|336154|336160|336161|336166|336167|336168|336182|336185|338039|338042|338045|338046|338050|338051|338056|338061|338066|338067|338071|338071|338072|338096|373875|437970|463824|463831|463831|463836|463966|464163|464169|464175|464177|464321|482050|513447|527839|528216|528574|528680|528685|566501|568125|568138|568944|568946|568949|572820|572826|577351|612989|642511|642512|642513|642514|642515|642516|642517|642518|642519|652312|652318|652355|688314|702900|702900|801551|820629|820630|841559|841560|851561|852001|852747|871942|871943|871944|871945|871946|871947|871948|871949|871950|871951|871952|871953|871954|871955|871956|871957|871958|871959|927103|927104|936638|936639|936640|948589|957238|957239|983819", + "upstreamId": "24310|24311|24312|24313|24314|24315|24316|24317|24318|24321|24322|24322|24323|24324|24327|24328|24330|171166|171167|171167|254991|254992|260057|260057|320705|320709|320715|320716|320717|320722|320723|320723|320725|320725|320735|320736|329510|329511|329514|329519|329520|329523|329532|329537|329538|329538|329541|329558|329560|336147|336154|336160|336161|336166|336167|336168|336182|336185|338039|338042|338045|338046|338050|338051|338056|338061|338066|338067|338071|338071|338072|338096|373875|437970|463824|463831|463831|463836|463966|464163|464169|464175|464177|464321|482050|513447|527839|528216|528574|528680|528685|566501|568125|568138|568944|568946|568949|572820|572826|577351|612989|642511|642512|642513|642514|642515|642516|642517|642518|642519|652312|652318|652355|688314|702900|702900|801551|820629|820630|841559|841560|851561|852001|852747|871942|871943|871944|871945|871946|871947|871948|871949|871950|871951|871952|871953|871954|871955|871956|871957|871958|871959|927103|927104|936638|936639|936640|948589|957238|957239|983819", "text": "Dystonia 5" }, { - "baseId": "24319|24320|24321|24322|24325|24331|27363|27364|27365|27366|27367|27368|27369|27370|27371|27372|27373|34718|45062|186821|205167|241071|241073|241074|241076|254105|254106|254108|254109|254110|254114|254115|254116|313632|313633|313637|313638|313640|313641|313643|313646|313647|313649|313653|319828|319830|319843|319846|319847|319849|325998|325999|326005|326006|326007|326010|326011|326018|326978|326982|326983|326984|326992|326993|357963|357964|357965|357966|357967|357968|357969|357970|357971|361307|361308|361618|372119|398449|398531|398540|413302|415263|437882|441420|444773|461058|461767|489308|526025|526532|545991|545996|545998|546000|546003|546011|546016|546019|546020|546022|546031|546032|546268|546270|546273|546278|546303|546310|546312|546314|546411|546412|546415|546418|546421|546422|546424|546429|546430|546432|546443|546444|546627|546630|546631|546638|546639|546643|546644|546646|546650|546652|546653|565602|567130|567131|570432|570440|577191|581766|639861|639862|639864|639865|639866|639869|639870|639873|639874|639875|652173|652528|684240|684241|684242|684243|684244|684245|684246|685283|687729|687730|687731|687734|687735|687736|687738|687742|701704|701705|712765|724363|724364|724366|737917|737919|768392|791123|791124|796550|798640|838186|838187|838192|838196|838199|838200|867735|867736|867737|867738|867739|867740|867741|867742|867743|867744|867745|867746|867747|867748|919350|956446|978968|978969|978970|978971|978972|978973|978974|978975|978976|978977|978978|978979|978980|978981|978982|978983|978984", + "upstreamId": "24319|24320|24321|24322|24325|24331|27363|27364|27365|27366|27367|27368|27369|27370|27371|27372|27373|34718|45062|186821|205167|241071|241073|241074|241076|254105|254106|254108|254109|254110|254114|254115|254116|313632|313633|313637|313638|313640|313641|313643|313646|313647|313649|313653|319828|319830|319843|319846|319847|319849|325998|325999|326005|326006|326007|326010|326011|326018|326978|326982|326983|326984|326992|326993|357963|357964|357965|357966|357967|357968|357969|357970|357971|361307|361308|361618|372119|398449|398531|398540|413302|415263|437882|441420|444773|461058|461767|489308|526025|526532|545991|545996|545998|546000|546003|546011|546016|546019|546020|546022|546031|546032|546268|546270|546273|546278|546303|546310|546312|546314|546411|546412|546415|546418|546421|546422|546424|546429|546430|546432|546443|546444|546627|546630|546631|546638|546639|546643|546644|546646|546650|546652|546653|565602|567130|567131|570432|570440|577191|581766|639861|639862|639864|639865|639866|639869|639870|639873|639874|639875|652173|652528|684240|684241|684242|684243|684244|684245|684246|685283|687729|687730|687731|687734|687735|687736|687738|687742|701704|701705|712765|724363|724364|724366|737917|737919|768392|791123|791124|796550|798640|838186|838187|838192|838196|838199|838200|867735|867736|867737|867738|867739|867740|867741|867742|867743|867744|867745|867746|867747|867748|919350|956446|978968|978969|978970|978971|978972|978973|978974|978975|978976|978977|978978|978979|978980|978981|978982|978983|978984", "text": "Autosomal recessive DOPA responsive dystonia" }, { - "baseId": "24321|24322|24322|24326|24329|171166|171167|171167|254991|254992|260057|320705|320709|320711|320715|320716|320717|320722|320723|320723|320725|320725|320735|320736|329510|329511|329513|329514|329519|329520|329523|329532|329537|329538|329538|329541|329558|329560|329573|336147|336154|336160|336161|336164|336166|336167|336168|336174|336182|336185|338039|338040|338042|338045|338046|338050|338051|338056|338061|338066|338067|338071|338071|338072|338096|353302|373875|437970|463824|463831|463831|463836|463966|464163|464169|464321|482050|527839|528216|528574|528680|528685|566501|568125|568138|568944|568946|568949|572820|572826|577351|612989|622846|642511|642512|642513|642514|642515|642516|642517|642518|642519|652312|652318|652355|688314|702900|702900|791413|791414|820629|820630|841559|841560|851561|852001|852747|871942|871943|871944|871945|871946|871947|871948|871949|871950|871951|871952|871953|871954|871955|871956|871957|871958|871959|927103|927104|936638|936639|936640|948589|957238|957239", + "upstreamId": "24321|24322|24322|24326|24329|171166|171167|171167|254991|254992|260057|320705|320709|320711|320715|320716|320717|320722|320723|320723|320725|320725|320735|320736|329510|329511|329513|329514|329519|329520|329523|329532|329537|329538|329538|329541|329558|329560|329573|336147|336154|336160|336161|336164|336166|336167|336168|336174|336182|336185|338039|338040|338042|338045|338046|338050|338051|338056|338061|338066|338067|338071|338071|338072|338096|353302|373875|437970|463824|463831|463831|463836|463966|464163|464169|464321|482050|527839|528216|528574|528680|528685|566501|568125|568138|568944|568946|568949|572820|572826|577351|612989|622846|642511|642512|642513|642514|642515|642516|642517|642518|642519|652312|652318|652355|688314|702900|702900|791413|791414|820629|820630|841559|841560|851561|852001|852747|871942|871943|871944|871945|871946|871947|871948|871949|871950|871951|871952|871953|871954|871955|871956|871957|871958|871959|927103|927104|936638|936639|936640|948589|957238|957239", "text": "GTP cyclohydrolase I deficiency" }, { - "baseId": "24332|24333|39008|39009|308007|308036|308037|308039|308041|308045|308046|308060|308061|312343|312346|312365|312372|312374|312376|312387|312388|312389|312391|312392|312396|312397|312398|312402|312404|312405|312409|312411|312412|312420|318050|318070|318104|318120|318124|318140|318148|318153|318154|318166|318176|318179|318195|318198|318202|318207|318220|318221|318622|318623|318624|318647|318652|318654|318658|318666|318667|318671|318674|318681|318684|318685|318689|318695|318696|318697|318715|318716|318727|318732|508837|552141|609731|620328|723540|901795|901796|901797|901798|901799|901816|901819|901824|901831|901833|901834|901835|901836|901837|901838|901839|901840|901841|901842|901843|901844|903378|903379|903381|903382|905822", + "upstreamId": "24332|24333|39008|39009|308007|308036|308037|308039|308041|308045|308046|308060|308061|312343|312346|312365|312372|312374|312376|312387|312388|312389|312391|312392|312396|312397|312398|312402|312404|312405|312409|312411|312412|312420|318050|318070|318104|318120|318124|318140|318148|318153|318154|318166|318176|318179|318195|318198|318202|318207|318220|318221|318622|318623|318624|318647|318652|318654|318658|318666|318667|318671|318674|318681|318684|318685|318689|318695|318696|318697|318715|318716|318727|318732|508837|552141|609731|620328|723540|901795|901796|901797|901798|901799|901816|901819|901824|901831|901833|901834|901835|901836|901837|901838|901839|901840|901841|901842|901843|901844|903378|903379|903381|903382|905822", "text": "Multiple cutaneous and mucosal venous malformations" }, { - "baseId": "24334|24335|24337|24338|24341|24342|24343|24344|24345|24346|76533|76534|193462|204425|252379|300384|300386|300387|300389|300390|300392|300396|300397|300402|300404|300405|300411|300413|300424|300426|300430|300438|300440|303224|303245|303246|303250|303256|303257|303258|303262|303263|303270|303272|303281|303283|303289|303291|303296|307741|307742|307744|307745|307747|307755|307756|307758|307759|307760|307762|307769|307779|307781|307782|307783|307786|307907|307922|307932|307935|307937|307938|307941|307944|307946|307947|307959|307969|307971|368950|431555|538998|538999|539000|622371|682807|790635|816464|818248|896498|896499|896500|896501|896502|896503|896504|896505|896506|896507|896508|896509|896510|896511|896512|896513|896514|896515|896516|896517|896518|896519|896520|896521|896522|896523|896524|896525|896526|896527|896528|896529|896530|896531|896532|905032|905033|905034|905035|905036|905037|905038|905039|916966|964280|966619", + "upstreamId": "24334|24335|24337|24338|24341|24342|24343|24344|24345|24346|76533|76534|193462|204425|252379|300384|300386|300387|300389|300390|300392|300396|300397|300402|300404|300405|300411|300413|300424|300426|300430|300438|300440|303224|303245|303246|303250|303256|303257|303258|303262|303263|303270|303272|303281|303283|303289|303291|303296|307741|307742|307744|307745|307747|307755|307756|307758|307759|307760|307762|307769|307779|307781|307782|307783|307786|307907|307922|307932|307935|307937|307938|307941|307944|307946|307947|307959|307969|307971|368950|431555|538998|538999|539000|622371|682807|790635|816464|818248|896498|896499|896500|896501|896502|896503|896504|896505|896506|896507|896508|896509|896510|896511|896512|896513|896514|896515|896516|896517|896518|896519|896520|896521|896522|896523|896524|896525|896526|896527|896528|896529|896530|896531|896532|905032|905033|905034|905035|905036|905037|905038|905039|916966|964280|966619", "text": "Cleidocranial dysostosis" }, { - "baseId": "24336", + "upstreamId": "24336", "text": "Cleidocranial dysplasia, forme fruste, with brachydactyly" }, { - "baseId": "24339", + "upstreamId": "24339", "text": "Cleidocranial dysplasia, forme fruste" }, { - "baseId": "24340", + "upstreamId": "24340", "text": "Cleidocranial dysplasia, severe, with osteoporosis and scoliosis" }, { - "baseId": "24343", + "upstreamId": "24343", "text": "Cleidocranial dysplasia, forme fruste, dental anomalies only" }, { - "baseId": "24347", + "upstreamId": "24347", "text": "Skin/hair/eye pigmentation, variation in, 9" }, { - "baseId": "24348|24349|24350|24351|24352|24353|24354|24355|317818|317822|317827|317831|317836|317842|317844|317848|317850|317854|317855|317857|317861|325701|325702|325703|325704|325711|325716|325717|325722|325732|325738|331929|331930|331932|331933|331939|331940|331950|331953|331955|331956|331965|331969|331972|331979|331984|331987|331988|331989|333461|333462|333473|333478|333484|333485|333489|333491|353250|713592|725164|870119|870120|870121|870122|870123|870124|870125|870126|870127|870128|870129|870130|870131|870132|870133|870134|870135|872260|872261", + "upstreamId": "24348|24349|24350|24351|24352|24353|24354|24355|317818|317822|317827|317831|317836|317842|317844|317848|317850|317854|317855|317857|317861|325701|325702|325703|325704|325711|325716|325717|325722|325732|325738|331929|331930|331932|331933|331939|331940|331950|331953|331955|331956|331965|331969|331972|331979|331984|331987|331988|331989|333461|333462|333473|333478|333484|333485|333489|333491|353250|713592|725164|870119|870120|870121|870122|870123|870124|870125|870126|870127|870128|870129|870130|870131|870132|870133|870134|870135|872260|872261", "text": "Ichthyosis bullosa of Siemens" }, { - "baseId": "24349", + "upstreamId": "24349", "text": "Ichthyosis exfoliativa" }, { - "baseId": 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"text": "Breast-ovarian cancer, familial 2" }, { - "baseId": "24364", + "upstreamId": "24364", "text": "Pancreatic cancer 2" }, { - "baseId": 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+ "upstreamId": 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"text": "Fanconi anemia, complementation group D1" }, { - "baseId": "24364|24379|46287|46310|46796|66620", + "upstreamId": "24364|24379|46287|46310|46796|66620", "text": "BRCA2-Related Disorders" }, { - "baseId": "24381|24385", + "upstreamId": "24381|24385", "text": "Glioma susceptibility 3" }, { - "baseId": 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+ "upstreamId": "24394|24394|24396|24396|24398|38391|104431|104432|104433|104433|104436|104440|104441|104447|104448|104456|104456|104471|104480|104492|152779|152779|191486|191862|192077|192078|192193|194278|194279|194279|195216|195217|256531|256534|267852|267852|361027|374152|410300|438037|468444|469027|469027|469226|489189|489189|493639|551585|569886|569892|570726|578553|584376|610116|623351|626263|646841|646842|646914|694210|694219|704421|704423|704424|704425|704426|704427|704428|715777|715781|731182|756205|756208|756209|771892|771893|771894|771918|778416|785781|791837|791839|791839|791840|791840|791841|791842|846355|846356|846357|846358|846359|846360|846365|846366|846367|846369|846370|846435|846436|846437|846438|846439|846440|846441|846442|846443|846444|846445|846446|846447|846448|846449|851759|903674|938267|938268|938269|938270|938271|938272|938273|938274|938277|938278|938279|938297|938298|938299|938300|938301|938302|938303|938304|950343|950344|950345|950348|950349|950350|950351|950368|950369|950370|950371|950372|950373|950374|950375|958342|958343|958344|958346|958347|958348|958373|958374|958375|958376|958377|960253|962029", "text": "Cone-rod dystrophy 6" }, { - "baseId": "24394|104456|104471|267852|361027|438038|578553|609333|626263|919774|919781|920383", + "upstreamId": "24394|104456|104471|267852|361027|438038|578553|609333|626263|919774|919781|920383", "text": "Choroidal dystrophy, central areolar 1" }, { - "baseId": "24396|28222|57649|57709|105317|331368|431634|431838|438037|576244|623968|623984|623986", + "upstreamId": "24396|28222|57649|57709|105317|331368|431634|431838|438037|576244|623968|623984|623986", "text": "Progressive cone dystrophy (without rod involvement)" }, { - "baseId": 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+ "upstreamId": "24399|24400|24401|24402|24403|24404|24405|45080|45081|45082|45085|91911|138304|138305|138308|138310|138311|138312|138314|138318|138319|138323|141299|141300|141302|141303|141304|188906|247160|332795|332803|332805|332806|332810|332811|332813|332817|332826|332828|332830|332832|342963|342964|342967|342968|342975|342976|342979|342984|342988|343000|343008|343009|343016|343018|343021|348311|348314|348315|348316|348320|348322|348324|348327|348329|348333|348338|348339|348343|348352|348358|348359|349510|349511|349513|349515|349516|349517|349520|349521|349524|349525|349527|349528|349531|349532|349533|349534|360407|362993|376383|377343|377347|379510|410548|410549|468562|469484|469485|470525|470527|532753|532778|532779|532780|532782|532843|532848|532852|533187|533209|570590|570592|570597|570599|572974|572977|574906|574907|574908|574909|574910|614457|624654|647796|647797|647798|647799|647800|647801|647802|647803|647804|647805|647806|647807|647808|647809|647810|647811|647812|647813|647814|647815|647816|647817|647818|647819|656521|694358|694359|695815|704851|741704|741707|741708|760833|772521|776569|778504|779992|791912|791913|791914|847413|847414|847415|847416|847417|847418|847419|847420|847421|847422|847423|847424|847425|847426|847427|847428|847429|847430|847431|847432|847433|847434|847435|852319|880087|880088|880089|880090|880091|880092|880093|880094|880095|880096|880097|880098|880099|880100|880101|880102|880103|880104|880105|880106|880107|880108|880109|880110|880111|880112|880113|880114|880115|880116|880117|880118|880119|880120|880121|880122|880123|880124|880125|880710|880711|880712|880713|928892|928893|928894|928895|938613|938614|938615|950712|950713|958568|958569|958570|958571|964517", "text": "Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative" }, { - "baseId": "24406", + "upstreamId": "24406", "text": "GIL BLOOD GROUP" }, { - "baseId": "24408|24409|24413|24414|24415|24416|24421|24423|24426|24427|24428|24431|24432|24435|24438|24439|24440|24445|38447|45419|45421|45422|45423|45424|45426|45427|45428|48043|57443|57444|57446|57448|57448|57448|57450|57450|57450|57451|57453|57455|57456|57457|57458|57459|57460|57461|57464|57467|57470|57474|57476|57478|57478|57479|57481|78547|78555|78567|78578|78586|78588|78607|78607|78627|78629|78664|78665|78666|78667|78683|78697|78729|78731|78750|78797|78825|78826|78829|78831|78842|78870|78872|78877|78902|78906|78912|78914|78916|78917|78919|78924|78926|78945|142746|142747|142750|142754|142755|142756|142757|142764|142769|173784|173789|173792|173917|173920|173921|173926|173928|196826|196826|196863|196864|196868|196890|196904|196928|196929|196995|196998|204196|229045|239196|239203|246944|258319|290247|290248|290251|290261|290262|290267|290268|290269|290272|290275|290282|291024|291043|291051|291052|291054|291055|291056|291061|291079|291083|291086|291098|291099|291100|294304|294321|294323|294324|294336|294340|294343|294369|294382|294387|294400|294414|294719|294723|294725|294748|294749|367203|367473|367482|367499|367523|393593|404765|439876|452218|452452|452553|500768|509585|509600|511073|519397|551763|551765|551766|551767|558918|559467|559471|578417|616892|616902|616906|625791|625792|680043|680044|691385|818225|858552|888837|888838|888839|888840|888841|888842|888843|888844|888845|888846|888847|888848|888849|888850|888851|888852|888853|888854|888855|888856|888857|888858|888859|888860|888861|888862|888863|888864|888865|888866|888867|888868|888869|888870|888871|888872|891639|960995|966792|967149|967180", + "upstreamId": "24408|24409|24413|24414|24415|24416|24421|24423|24426|24427|24428|24431|24432|24435|24438|24439|24440|24445|38447|45419|45421|45422|45423|45424|45426|45427|45428|48043|57443|57444|57446|57448|57448|57448|57450|57450|57450|57451|57453|57455|57456|57457|57458|57459|57460|57461|57464|57467|57470|57474|57476|57478|57478|57479|57481|78547|78555|78567|78578|78586|78588|78607|78607|78627|78629|78664|78665|78666|78667|78683|78697|78729|78731|78750|78797|78825|78826|78829|78831|78842|78870|78872|78877|78902|78906|78912|78914|78916|78917|78919|78924|78926|78945|142746|142747|142750|142754|142755|142756|142757|142764|142769|173784|173789|173792|173917|173920|173921|173926|173928|196826|196826|196863|196864|196868|196890|196904|196928|196929|196995|196998|204196|229045|239196|239203|246944|258319|290247|290248|290251|290261|290262|290267|290268|290269|290272|290275|290282|291024|291043|291051|291052|291054|291055|291056|291061|291079|291083|291086|291098|291099|291100|294304|294321|294323|294324|294336|294340|294343|294369|294382|294387|294400|294414|294719|294723|294725|294748|294749|367203|367473|367482|367499|367523|393593|404765|439876|452218|452452|452553|500768|509585|509600|511073|519397|551763|551765|551766|551767|558918|559467|559471|578417|616892|616902|616906|625791|625792|680043|680044|691385|818225|858552|888837|888838|888839|888840|888841|888842|888843|888844|888845|888846|888847|888848|888849|888850|888851|888852|888853|888854|888855|888856|888857|888858|888859|888860|888861|888862|888863|888864|888865|888866|888867|888868|888869|888870|888871|888872|891639|960995|966792|967149|967180", "text": "Long QT syndrome 3" }, { - "baseId": 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+ "upstreamId": 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"text": "Brugada syndrome 1" }, { - "baseId": "24413|24426|24431|24432|24433|24434|24435|24438|38447|45419|45421|45422|45423|45424|45426|45427|45428|57443|57444|57446|57448|57450|57451|57453|57456|57457|57459|57460|57461|57464|57467|57470|57474|57476|57478|57479|57481|78552|78555|78578|78607|78626|78664|78665|78666|78667|78683|78697|78714|78729|78750|78817|78842|78857|78870|78877|78880|78902|78906|78912|78914|78916|78917|78926|142746|142747|142750|142754|142755|142756|142757|142764|142769|173784|173789|173792|173917|173920|173921|173926|173928|196826|196849|196863|196890|196928|196929|196995|229045|239196|239203|258319|290247|290248|290251|290261|290262|290267|290268|290269|290272|290275|290282|291024|291043|291051|291052|291054|291055|291056|291061|291079|291083|291086|291098|291099|291100|294304|294321|294323|294324|294336|294340|294343|294369|294382|294387|294400|294414|294719|294723|294725|294748|294749|367203|367473|367499|367523|393593|452218|452553|500768|509585|509600|511073|513944|519397|558918|559471|616892|616902|616906|631317|691385|858552|888837|888838|888839|888840|888841|888842|888843|888844|888845|888846|888847|888848|888849|888850|888851|888852|888853|888854|888855|888856|888857|888858|888859|888860|888861|888862|888863|888864|888865|888866|888867|888868|888869|888870|888871|888872|891639|915654|918829", + "upstreamId": "24413|24426|24431|24432|24433|24434|24435|24438|38447|45419|45421|45422|45423|45424|45426|45427|45428|57443|57444|57446|57448|57450|57451|57453|57456|57457|57459|57460|57461|57464|57467|57470|57474|57476|57478|57479|57481|78552|78555|78578|78607|78626|78664|78665|78666|78667|78683|78697|78714|78729|78750|78817|78842|78857|78870|78877|78880|78902|78906|78912|78914|78916|78917|78926|142746|142747|142750|142754|142755|142756|142757|142764|142769|173784|173789|173792|173917|173920|173921|173926|173928|196826|196849|196863|196890|196928|196929|196995|229045|239196|239203|258319|290247|290248|290251|290261|290262|290267|290268|290269|290272|290275|290282|291024|291043|291051|291052|291054|291055|291056|291061|291079|291083|291086|291098|291099|291100|294304|294321|294323|294324|294336|294340|294343|294369|294382|294387|294400|294414|294719|294723|294725|294748|294749|367203|367473|367499|367523|393593|452218|452553|500768|509585|509600|511073|513944|519397|558918|559471|616892|616902|616906|631317|691385|858552|888837|888838|888839|888840|888841|888842|888843|888844|888845|888846|888847|888848|888849|888850|888851|888852|888853|888854|888855|888856|888857|888858|888859|888860|888861|888862|888863|888864|888865|888866|888867|888868|888869|888870|888871|888872|891639|915654|918829", "text": "Sick sinus syndrome 1, autosomal recessive" }, { - "baseId": "24416|173788|189359", + "upstreamId": "24416|173788|189359", "text": "Sinus node disease" }, { - "baseId": "24417|24424|24426|24431|24432|24438|38447|44159|44160|45419|45421|45422|45423|45424|45426|45427|45428|57443|57444|57446|57448|57450|57451|57453|57456|57457|57459|57460|57461|57464|57467|57470|57474|57476|57478|57479|57481|78552|78555|78578|78607|78664|78665|78666|78667|78683|78697|78714|78750|78842|78870|78877|78880|78902|78906|78912|78914|78916|78917|78926|142746|142747|142750|142754|142755|142756|142757|142764|142769|173784|173789|173792|173917|173920|173921|173926|173928|196826|196863|196890|196928|196929|196995|229045|239196|239203|258319|290247|290248|290251|290261|290262|290267|290268|290269|290272|290275|290282|291024|291043|291051|291052|291054|291055|291056|291061|291079|291083|291086|291098|291099|291100|294304|294321|294323|294324|294336|294340|294343|294369|294382|294387|294400|294414|294719|294723|294725|294748|294749|367203|367473|367499|367523|393593|452218|452553|500768|509585|509600|511073|519397|558918|559471|616892|616902|616906|691385|858552|888837|888838|888839|888840|888841|888842|888843|888844|888845|888846|888847|888848|888849|888850|888851|888852|888853|888854|888855|888856|888857|888858|888859|888860|888861|888862|888863|888864|888865|888866|888867|888868|888869|888870|888871|888872|891639", + "upstreamId": "24417|24424|24426|24431|24432|24438|38447|44159|44160|45419|45421|45422|45423|45424|45426|45427|45428|57443|57444|57446|57448|57450|57451|57453|57456|57457|57459|57460|57461|57464|57467|57470|57474|57476|57478|57479|57481|78552|78555|78578|78607|78664|78665|78666|78667|78683|78697|78714|78750|78842|78870|78877|78880|78902|78906|78912|78914|78916|78917|78926|142746|142747|142750|142754|142755|142756|142757|142764|142769|173784|173789|173792|173917|173920|173921|173926|173928|196826|196863|196890|196928|196929|196995|229045|239196|239203|258319|290247|290248|290251|290261|290262|290267|290268|290269|290272|290275|290282|291024|291043|291051|291052|291054|291055|291056|291061|291079|291083|291086|291098|291099|291100|294304|294321|294323|294324|294336|294340|294343|294369|294382|294387|294400|294414|294719|294723|294725|294748|294749|367203|367473|367499|367523|393593|452218|452553|500768|509585|509600|511073|519397|558918|559471|616892|616902|616906|691385|858552|888837|888838|888839|888840|888841|888842|888843|888844|888845|888846|888847|888848|888849|888850|888851|888852|888853|888854|888855|888856|888857|888858|888859|888860|888861|888862|888863|888864|888865|888866|888867|888868|888869|888870|888871|888872|891639", "text": "Progressive familial heart block, type 1A" }, { - "baseId": "24418", + "upstreamId": "24418", "text": "Heart block, nonprogressive" }, { - "baseId": "24422|24426|24431|24432|24438|38447|45400|45419|45421|45422|45423|45424|45426|45427|45428|52126|53160|56054|57443|57444|57446|57448|57450|57451|57453|57456|57457|57459|57460|57461|57464|57467|57470|57474|57476|57478|57479|57481|78552|78555|78578|78607|78664|78665|78666|78667|78683|78697|78714|78750|78842|78870|78877|78880|78902|78906|78912|78914|78916|78917|78926|142746|142747|142750|142754|142755|142756|142757|142764|142769|165527|165553|173784|173789|173792|173917|173920|173921|173926|173928|176814|178465|178571|178579|178607|178629|178655|178718|178754|196826|196863|196890|196928|196929|196995|229045|239196|239203|258319|290247|290248|290251|290261|290262|290267|290268|290269|290272|290275|290282|291024|291043|291051|291052|291054|291055|291056|291061|291079|291083|291086|291098|291099|291100|294304|294321|294323|294324|294336|294340|294343|294369|294382|294387|294400|294414|294719|294723|294725|294748|294749|367203|367473|367499|367523|393593|452218|452553|500768|509585|509600|511073|519397|558918|559471|578456|616892|616902|616906|691385|858552|888837|888838|888839|888840|888841|888842|888843|888844|888845|888846|888847|888848|888849|888850|888851|888852|888853|888854|888855|888856|888857|888858|888859|888860|888861|888862|888863|888864|888865|888866|888867|888868|888869|888870|888871|888872|891639", + "upstreamId": "24422|24426|24431|24432|24438|38447|45400|45419|45421|45422|45423|45424|45426|45427|45428|52126|53160|56054|57443|57444|57446|57448|57450|57451|57453|57456|57457|57459|57460|57461|57464|57467|57470|57474|57476|57478|57479|57481|78552|78555|78578|78607|78664|78665|78666|78667|78683|78697|78714|78750|78842|78870|78877|78880|78902|78906|78912|78914|78916|78917|78926|142746|142747|142750|142754|142755|142756|142757|142764|142769|165527|165553|173784|173789|173792|173917|173920|173921|173926|173928|176814|178465|178571|178579|178607|178629|178655|178718|178754|196826|196863|196890|196928|196929|196995|229045|239196|239203|258319|290247|290248|290251|290261|290262|290267|290268|290269|290272|290275|290282|291024|291043|291051|291052|291054|291055|291056|291061|291079|291083|291086|291098|291099|291100|294304|294321|294323|294324|294336|294340|294343|294369|294382|294387|294400|294414|294719|294723|294725|294748|294749|367203|367473|367499|367523|393593|452218|452553|500768|509585|509600|511073|519397|558918|559471|578456|616892|616902|616906|691385|858552|888837|888838|888839|888840|888841|888842|888843|888844|888845|888846|888847|888848|888849|888850|888851|888852|888853|888854|888855|888856|888857|888858|888859|888860|888861|888862|888863|888864|888865|888866|888867|888868|888869|888870|888871|888872|891639", "text": "Paroxysmal familial ventricular fibrillation 1" }, { - "baseId": "24424|24426", + "upstreamId": "24424|24426", "text": "Atrioventricular block" }, { - "baseId": "24425", + "upstreamId": "24425", "text": "Cardiac conduction defect, nonprogressive" }, { - "baseId": "24426|29188|45778|45780|54093|241801|514099", + "upstreamId": "24426|29188|45778|45780|54093|241801|514099", "text": "Hemiplegia" }, { - "baseId": "24426|29188|54093|193096|241801|359762|513896|514011|514092|970990", + "upstreamId": "24426|29188|54093|193096|241801|359762|513896|514011|514092|970990", "text": "Migraine" }, { - "baseId": "24426|24431|24432|24435|24440|24445|38447|45419|45421|45422|45423|45424|45426|45427|45428|48043|48044|57443|57444|57446|57448|57450|57451|57453|57456|57457|57459|57460|57461|57464|57467|57470|57474|57476|57478|57479|57481|78552|78555|78578|78607|78626|78664|78665|78666|78667|78683|78697|78714|78750|78842|78870|78877|78880|78902|78906|78912|78914|78916|78917|78925|78926|142746|142747|142750|142754|142755|142756|142757|142764|142769|173784|173789|173792|173917|173920|173921|173926|173928|196826|196863|196890|196928|196929|196943|196995|229045|239196|239203|258319|290247|290248|290251|290261|290262|290267|290268|290269|290272|290275|290282|291024|291043|291051|291052|291054|291055|291056|291061|291079|291083|291086|291098|291099|291100|294304|294321|294323|294324|294336|294340|294343|294369|294382|294387|294400|294414|294719|294723|294725|294748|294749|367203|367473|367499|367523|393593|452218|452553|500768|509585|509600|511073|519397|558918|559471|578417|616892|616902|616906|691385|827994|858552|888837|888838|888839|888840|888841|888842|888843|888844|888845|888846|888847|888848|888849|888850|888851|888852|888853|888854|888855|888856|888857|888858|888859|888860|888861|888862|888863|888864|888865|888866|888867|888868|888869|888870|888871|888872|891639", + "upstreamId": "24426|24431|24432|24435|24440|24445|38447|45419|45421|45422|45423|45424|45426|45427|45428|48043|48044|57443|57444|57446|57448|57450|57451|57453|57456|57457|57459|57460|57461|57464|57467|57470|57474|57476|57478|57479|57481|78552|78555|78578|78607|78626|78664|78665|78666|78667|78683|78697|78714|78750|78842|78870|78877|78880|78902|78906|78912|78914|78916|78917|78925|78926|142746|142747|142750|142754|142755|142756|142757|142764|142769|173784|173789|173792|173917|173920|173921|173926|173928|196826|196863|196890|196928|196929|196943|196995|229045|239196|239203|258319|290247|290248|290251|290261|290262|290267|290268|290269|290272|290275|290282|291024|291043|291051|291052|291054|291055|291056|291061|291079|291083|291086|291098|291099|291100|294304|294321|294323|294324|294336|294340|294343|294369|294382|294387|294400|294414|294719|294723|294725|294748|294749|367203|367473|367499|367523|393593|452218|452553|500768|509585|509600|511073|519397|558918|559471|578417|616892|616902|616906|691385|827994|858552|888837|888838|888839|888840|888841|888842|888843|888844|888845|888846|888847|888848|888849|888850|888851|888852|888853|888854|888855|888856|888857|888858|888859|888860|888861|888862|888863|888864|888865|888866|888867|888868|888869|888870|888871|888872|891639", "text": "Dilated cardiomyopathy 1E" }, { - "baseId": "24431|24432", + "upstreamId": "24431|24432", "text": "Long qt syndrome 3, acquired, susceptibility to" }, { - "baseId": 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+ "upstreamId": 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"text": "Romano-Ward syndrome" }, { - "baseId": "24432|29166|45135|51881|51992|52111|52138|53649|54357|57209|136674|141245|172435|174890|175138|175197|175452|175457|175645|175998|176098|178182|178256|179675|189962|205199|205200|205201|205202|205203|205204|205205|390140|398720|439513|463912|464185|467858|481117|499142|511101|624835|635277|672427|672440", + "upstreamId": "24432|29166|45135|51881|51992|52111|52138|53649|54357|57209|136674|141245|172435|174890|175138|175197|175452|175457|175645|175998|176098|178182|178256|179675|189962|205199|205200|205201|205202|205203|205204|205205|390140|398720|439513|463912|464185|467858|481117|499142|511101|624835|635277|672427|672440", "text": "Left ventricular noncompaction" }, { - "baseId": "24433|57463|142741|173790|173931|178523|188736|224269|224275|290242|290243|290244|290254|290271|290276|291029|291030|291039|291040|291049|291066|291078|291087|291088|291095|294310|294320|294337|294342|294384|294386|294391|294399|294413|294701|294707|294717|294718|294722|294738", + "upstreamId": "24433|57463|142741|173790|173931|178523|188736|224269|224275|290242|290243|290244|290254|290271|290276|291029|291030|291039|291040|291049|291066|291078|291087|291088|291095|294310|294320|294337|294342|294384|294386|294391|294399|294413|294701|294707|294717|294718|294722|294738", "text": "Sick sinus syndrome" }, { - "baseId": "24435|178658", + "upstreamId": "24435|178658", "text": "AV junctional rhythm" }, { - "baseId": "24435|24438|78524|78817|196833|578417", + "upstreamId": "24435|24438|78524|78817|196833|578417", "text": "SCN5A-Related Disorders" }, { - "baseId": "24439|24440|39000|39001|39002|39003|39004|578417", + "upstreamId": "24439|24440|39000|39001|39002|39003|39004|578417", "text": "Atrial fibrillation, familial, 10" }, { - "baseId": "24440|78922", + "upstreamId": "24440|78922", "text": "Atrial standstill 1, digenic" }, { - "baseId": "24441|29481", + "upstreamId": "24441|29481", "text": "Long QT syndrome 2/3, digenic" }, { - "baseId": "24446|38448", + "upstreamId": "24446|38448", "text": "Brugada syndrome, lidocaine-induced" }, { - "baseId": "24447|24448|24449|24450|24451|24452|24453|24454|24454|24456|24459|24460|24461|24462|24463|24464|24465|38998|38999|50012|132983|139539|150825|180312|180325|212668|240597|397415|459102|459956|474923|475124|575787|575788|575789|575791", + "upstreamId": "24447|24448|24449|24450|24451|24452|24453|24454|24454|24456|24459|24460|24461|24462|24463|24464|24465|38998|38999|50012|132983|139539|150825|180312|180325|212668|240597|397415|459102|459956|474923|475124|575787|575788|575789|575791", "text": "Cutaneous malignant melanoma 2" }, { - "baseId": "24448|27386|27390|27395|27398|27413|27640|27641|27651|28691|40609|44227|50038|133269|139098|151478|151858|152480|179419|181011|232035|236455|237595|247391|247392|362912|362970|362976|363182|363352|363553|363555|403675|420985|423861|424253|424257|424258|424558|467518|479357|610691|610692|965896|965897|965898|965899|965900", + "upstreamId": "24448|27386|27390|27395|27398|27413|27640|27641|27651|28691|40609|44227|50038|133269|139098|151478|151858|152480|179419|181011|232035|236455|237595|247391|247392|362912|362970|362976|363182|363352|363553|363555|403675|420985|423861|424253|424257|424258|424558|467518|479357|610691|610692|965896|965897|965898|965899|965900", "text": "Lip and oral cavity carcinoma" }, { - "baseId": "24449|24451|24454|24454|24459|24462|45669|50012|50016|50017|50018|50019|132979|132980|132981|132983|133657|137619|137620|137621|137623|139538|140420|150825|150959|151314|180312|180315|180325|180325|180326|182929|212661|212662|212668|221816|221819|221820|221826|233746|233753|244545|244548|244550|244553|259924|358804|358805|358806|358807|358808|358809|358810|358811|358812|358813|358814|358815|358816|358817|371197|397415|397433|459097|459102|459420|459452|475122|539273|539274|539275|539276|575787|575789|790887|790888|790889|790890|790891|790892|790893|790894|790895|790896|790897|790898|790899|790900", + "upstreamId": "24449|24451|24454|24454|24459|24462|45669|50012|50016|50017|50018|50019|132979|132980|132981|132983|133657|137619|137620|137621|137623|139538|140420|150825|150959|151314|180312|180315|180325|180325|180326|182929|212661|212662|212668|221816|221819|221820|221826|233746|233753|244545|244548|244550|244553|259924|358804|358805|358806|358807|358808|358809|358810|358811|358812|358813|358814|358815|358816|358817|371197|397415|397433|459097|459102|459420|459452|475122|539273|539274|539275|539276|575787|575789|790887|790888|790889|790890|790891|790892|790893|790894|790895|790896|790897|790898|790899|790900", "text": "Melanoma-pancreatic cancer syndrome" }, { - "baseId": 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+ "upstreamId": 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"text": "Hereditary melanoma" }, { - "baseId": "24454|24458|150825|180312|180325", + "upstreamId": "24454|24458|150825|180312|180325", "text": "Melanoma and neural system tumor syndrome" }, { - "baseId": 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+ "upstreamId": 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"text": "Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy" }, { - "baseId": 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+ "upstreamId": "24467|24468|24469|24470|24471|24472|24473|38997|99648|100923|100932|100935|100936|100937|100946|100947|100956|137774|137778|169207|169208|169210|169211|169212|169213|169215|169216|169218|169219|169220|169221|169223|169226|169227|169228|169229|169230|169231|169233|169234|169235|169236|169237|169238|169239|169240|169242|169243|169244|169245|169246|169247|169248|169250|169251|169252|169253|169254|169255|169256|169258|169259|169260|169261|169263|169264|169265|169266|169267|169268|169269|169270|169271|169272|177285|191888|192379|193041|205026|205780|208240|208259|208260|208261|208262|208263|208264|208265|208267|208268|208269|208270|208271|208272|208273|208276|208277|208278|208279|208281|225888|263005|263759|264634|338281|338285|338289|338298|338300|338310|338323|338324|347913|347924|347930|347960|347966|347967|351703|351706|351710|351711|351714|351718|352602|352603|352608|352613|352614|360999|361586|362447|424990|429809|429810|431385|465732|465735|465745|465750|466446|466450|466463|466468|481223|511035|513131|513132|529241|529568|529980|529982|530098|530105|530307|530519|530522|530525|530527|536101|536103|536106|536108|536109|537256|539065|539104|550625|551791|567500|567504|568136|568137|570193|573660|574058|574060|574066|576341|578530|578531|583125|610645|611421|653890|677299|682825|682826|682835|682865|682866|682867|682868|682869|682870|682871|682872|682873|682874|682875|682876|682877|682878|682879|682880|682881|682882|682883|682884|682885|682886|682887|682888|682889|682890|682891|682892|682893|682894|682895|682896|682897|682898|682899|682900|682901|682902|682903|682904|682905|682906|682907|682908|682909|682910|682911|682912|682913|682914|682915|682916|682917|682918|682919|682920|682921|682922|682923|682924|682925|682926|682927|682928|682929|682930|682931|682932|682933|682934|682935|682936|682937|682938|682939|682940|682941|682942|682943|682944|682945|682946|682947|682948|682949|791615|791616|791617|791618|791619|792072|792074|792075|792076|792077|792078|792079|816004|857658|919648|919649|919650|919651|919652|919653|919654|919655|919656|961535|961536|961623|961624|963804|964049|964454|964455|964755|966029|966030|966031|969862|969880|971048|973041|975670|977275|977276", "text": "Rubinstein-Taybi syndrome 1" }, { - "baseId": "24474|24475|24476|24477|24478|24479|45812|98212|135740|135741|168982|177027|177421|178065|186981|186982|194255|194256|194779|195192|195193|195194|213838|256270|265385|265523|265625|266096|266691|266748|267101|267355|267685|268237|268922|268945|269182|270055|270168|270250|270286|272832|273682|274010|274031|274128|274525|274759|274862|274955|329109|329113|358446|358447|358448|358449|358450|358451|358452|358453|358454|358455|358456|360257|378444|410065|410066|429989|445804|445806|466980|466985|467925|468175|468180|468374|468380|468383|468385|488497|488527|488615|488807|489091|489266|489699|491369|491436|491596|495843|531233|531400|531482|537290|548203|548208|548219|548227|548233|548240|548242|548244|548249|548534|548541|548542|548544|548545|548546|548552|548962|548966|548974|548975|548976|548977|548979|548985|569247|571259|571260|571626|574512|574513|574514|585149|587065|588618|608911|610086|646177|646178|646179|646180|646181|646182|646183|646184|652816|653480|681858|694115|694117|694118|695756|704210|740858|755933|776354|785638|788135|800046|802221|845601|845602|845603|845604|845605|845606|845607|845608|852760|852881|919740|928365|928366|928367|928368|938023|950026|958180|958181|958182|958183|958184|958185|958186|966167|966351", + "upstreamId": "24474|24475|24476|24477|24478|24479|45812|98212|135740|135741|168982|177027|177421|178065|186981|186982|194255|194256|194779|195192|195193|195194|213838|256270|265385|265523|265625|266096|266691|266748|267101|267355|267685|268237|268922|268945|269182|270055|270168|270250|270286|272832|273682|274010|274031|274128|274525|274759|274862|274955|329109|329113|358446|358447|358448|358449|358450|358451|358452|358453|358454|358455|358456|360257|378444|410065|410066|429989|445804|445806|466980|466985|467925|468175|468180|468374|468380|468383|468385|488497|488527|488615|488807|489091|489266|489699|491369|491436|491596|495843|531233|531400|531482|537290|548203|548208|548219|548227|548233|548240|548242|548244|548249|548534|548541|548542|548544|548545|548546|548552|548962|548966|548974|548975|548976|548977|548979|548985|569247|571259|571260|571626|574512|574513|574514|585149|587065|588618|608911|610086|646177|646178|646179|646180|646181|646182|646183|646184|652816|653480|681858|694115|694117|694118|695756|704210|740858|755933|776354|785638|788135|800046|802221|845601|845602|845603|845604|845605|845606|845607|845608|852760|852881|919740|928365|928366|928367|928368|938023|950026|958180|958181|958182|958183|958184|958185|958186|966167|966351", "text": "Autosomal recessive limb-girdle muscular dystrophy type 2D" }, { - "baseId": "24476|24478|98214|98559|98560|98561|98562|98564|135740|135741|135742|177027|177421|194779|195193|195194|254830|256270|266748|267685|268922|269182|269367|270070|270168|272508|272665|274010|274946|275451|319224|327710|327711|327722|327724|329101|329103|329104|329108|329109|329114|334008|334010|334017|334022|335624|335632|339230|345125|345126|345131|345132|346500|346505|346506|346510|504463|539048|652816|679459|693327|760608|870888|870889|870890|870891|870892|870893|870894|870895|870896|870897|870898|870899|870900|870901|870902|877911|877912|877913|877914|877915", + "upstreamId": "24476|24478|98214|98559|98560|98561|98562|98564|135740|135741|135742|177027|177421|194779|195193|195194|254830|256270|266748|267685|268922|269182|269367|270070|270168|272508|272665|274010|274946|275451|319224|327710|327711|327722|327724|329101|329103|329104|329108|329109|329114|334008|334010|334017|334022|335624|335632|339230|345125|345126|345131|345132|346500|346505|346506|346510|504463|539048|652816|679459|693327|760608|870888|870889|870890|870891|870892|870893|870894|870895|870896|870897|870898|870899|870900|870901|870902|877911|877912|877913|877914|877915", "text": "Sarcoglycanopathy" }, { - "baseId": "24478|71221|265264|858952", + "upstreamId": "24478|71221|265264|858952", "text": "Limb-girdle muscular dystrophy, autosomal recessive" }, { - "baseId": "24480|24481|135773|192372|244074|297370|297382|297394|297395|297405|297409|297413|297415|297421|299377|299379|299389|299398|299411|299419|299422|299423|299424|299428|299434|299438|299455|299471|299477|299478|299479|299484|303592|303602|303604|303606|303630|303631|303637|303641|303642|303910|303913|303915|303916|303922|303924|303929|303932|303936|303941|303942|415004|709902|749482|749485|793085|795697|795698|894180|894181|894182|894183|894184|894185|894186|894187|894188|894189|894190|894191|894192|894193|894194|894195|894196|894197|894198|894199|894200|896095|896096", + "upstreamId": "24480|24481|135773|192372|244074|297370|297382|297394|297395|297405|297409|297413|297415|297421|299377|299379|299389|299398|299411|299419|299422|299423|299424|299428|299434|299438|299455|299471|299477|299478|299479|299484|303592|303602|303604|303606|303630|303631|303637|303641|303642|303910|303913|303915|303916|303922|303924|303929|303932|303936|303941|303942|415004|709902|749482|749485|793085|795697|795698|894180|894181|894182|894183|894184|894185|894186|894187|894188|894189|894190|894191|894192|894193|894194|894195|894196|894197|894198|894199|894200|896095|896096", "text": "Episodic ataxia, type 6" }, { - "baseId": "24482|193507|312076|312081|312083|312085|312088|317728|317747|317748|317749|317755|323771|323789|323792|323793|323795|323796|323804|323809|323818|323831|323837|323843|324482|324490|324493|324496|324502|324525|324539|324545|324546|324547|551955|724175|866823|866824|866825|866826|866827|866828|866829|866830|866831|866832|866833|866834|866835|866836|868581|868582|964351", + "upstreamId": "24482|193507|312076|312081|312083|312085|312088|317728|317747|317748|317749|317755|323771|323789|323792|323793|323795|323796|323804|323809|323818|323831|323837|323843|324482|324490|324493|324496|324502|324525|324539|324545|324546|324547|551955|724175|866823|866824|866825|866826|866827|866828|866829|866830|866831|866832|866833|866834|866835|866836|868581|868582|964351", "text": "Spondyloepimetaphyseal dysplasia, Missouri type" }, { - "baseId": "24483|24484", + "upstreamId": "24483|24484", "text": "Metaphyseal anadysplasia 1, autosomal dominant" }, { - "baseId": "24485|181586|181587|324493|324539|539031|919313", + "upstreamId": "24485|181586|181587|324493|324539|539031|919313", "text": "Metaphyseal chondrodysplasia, Spahr type" }, { - "baseId": "24486|615263|615264", + "upstreamId": "24486|615263|615264", "text": "Noonan syndrome 12" }, { - "baseId": 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+ "upstreamId": 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"text": "Donnai-Barrow syndrome" }, { - "baseId": "24497|24498|24499|24500|24501|24502|24503|24504|24505|24506|24508|24509|24510|24511|106628|336911|350787|350794", + "upstreamId": "24497|24498|24499|24500|24501|24502|24503|24504|24505|24506|24508|24509|24510|24511|106628|336911|350787|350794", "text": "Leukocyte adhesion deficiency" }, { - "baseId": 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+ "upstreamId": 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"text": "Leukocyte adhesion deficiency 1" }, { - "baseId": "24512|24513|24514|24515|24516|24517|24518|24519|24520|24521|85648|166115|195931|205138|238008|250820|250822|268269|268388|269508|272579|273132|275245|287781|287782|287783|287785|287787|287792|287794|287797|288447|288449|288463|288467|288469|288471|288481|288483|291338|291346|291347|291355|291360|291361|291364|291365|291376|291392|291402|291414|291490|291504|291511|291512|291513|291514|291515|291522|291524|361607|363947|413546|488680|490192|551526|589204|590440|677413|720023|733648|747843|788757|788758|788759|800351|800482|818219|818220|827188|827202|856226|885756|885757|885758|885759|885760|885761|885762|885763|885764|885765|885766|885767|885768|885769|885770|885771|885772|885773|885774|885775|885776|885777|885778|885779|885780|885781|885782|887421|887422|887423|976714|976715|976716|976717|977194", + "upstreamId": "24512|24513|24514|24515|24516|24517|24518|24519|24520|24521|85648|166115|195931|205138|238008|250820|250822|268269|268388|269508|272579|273132|275245|287781|287782|287783|287785|287787|287792|287794|287797|288447|288449|288463|288467|288469|288471|288481|288483|291338|291346|291347|291355|291360|291361|291364|291365|291376|291392|291402|291414|291490|291504|291511|291512|291513|291514|291515|291522|291524|361607|363947|413546|488680|490192|551526|589204|590440|677413|720023|733648|747843|788757|788758|788759|800351|800482|818219|818220|827188|827202|856226|885756|885757|885758|885759|885760|885761|885762|885763|885764|885765|885766|885767|885768|885769|885770|885771|885772|885773|885774|885775|885776|885777|885778|885779|885780|885781|885782|887421|887422|887423|976714|976715|976716|976717|977194", "text": "Achromatopsia 2" }, { - "baseId": "24513|24517", + "upstreamId": "24513|24517", "text": "Monochromacy" }, { - "baseId": "24520", + "upstreamId": "24520", "text": "Photophobia" }, { - "baseId": "24520|188865|513965|514039", + "upstreamId": "24520|188865|513965|514039", "text": "Abnormality of color vision" }, { - "baseId": "24522|24523|24524|24526|24527|24528|24529|24531|24532|24533|24534|24535|24537|24538|24542|24544|24545|32963|227328|306295|306296|306303|306308|306310|306318|306320|306321|306326|306329|306343|306344|306353|306354|306357|306358|306363|306364|306367|306368|306369|306373|306375|306376|306383|306386|306387|306388|306398|306400|306401|306402|310412|310418|310419|310421|310423|310425|310427|310430|310433|310442|310443|310444|310448|310453|310454|310462|310465|310471|310472|310475|310477|310490|310491|310492|310493|310494|310510|310512|310525|310526|310527|310528|310532|310533|310534|310537|310542|310543|310546|310555|315754|315756|315758|315759|315760|315767|315768|315769|315770|315772|315773|315787|315802|315803|315810|315817|315818|315819|315830|315832|315834|315839|315840|315846|315847|315848|315849|315864|315865|315868|315869|315870|315871|315879|315880|315883|315884|315885|315886|315889|315897|315910|315911|315912|315914|315918|315919|315922|315933|315940|315945|315952|315958|315959|315961|315962|315964|315965|315966|315970|315973|315974|315985|315994|315996|315997|315998|316002|316005|316008|316013|316020|316024|316037|316038|316083|316087|316091|316093|316106|316109|316110|316122|316130|316131|316134|316137|316138|316139|316140|316141|316143|353848|361192|487348|487351|487359|539017|620314|900690|900691|900692|900693|900694|900695|900696|900697|900698|900699|900700|900701|900702|900703|900704|900705|900706|900707|900708|900709|900710|900711|900712|900713|900714|900715|900716|900717|900718|900719|900720|900721|900722|900723|900724|900725|900726|900727|900728|900729|900730|900731|900732|900733|900734|900735|900736|900737|900738|900739|900740|900741|900742|900743|900744|900745|900746|900747|900748|900749|900750|900751|900752|900753|900754|900755|900756|900757|900758|900759|900760|900761|900762|903280|903281|903282|903283|903284|903285|903286|903287", + "upstreamId": "24522|24523|24524|24526|24527|24528|24529|24531|24532|24533|24534|24535|24537|24538|24542|24544|24545|32963|227328|306295|306296|306303|306308|306310|306318|306320|306321|306326|306329|306343|306344|306353|306354|306357|306358|306363|306364|306367|306368|306369|306373|306375|306376|306383|306386|306387|306388|306398|306400|306401|306402|310412|310418|310419|310421|310423|310425|310427|310430|310433|310442|310443|310444|310448|310453|310454|310462|310465|310471|310472|310475|310477|310490|310491|310492|310493|310494|310510|310512|310525|310526|310527|310528|310532|310533|310534|310537|310542|310543|310546|310555|315754|315756|315758|315759|315760|315767|315768|315769|315770|315772|315773|315787|315802|315803|315810|315817|315818|315819|315830|315832|315834|315839|315840|315846|315847|315848|315849|315864|315865|315868|315869|315870|315871|315879|315880|315883|315884|315885|315886|315889|315897|315910|315911|315912|315914|315918|315919|315922|315933|315940|315945|315952|315958|315959|315961|315962|315964|315965|315966|315970|315973|315974|315985|315994|315996|315997|315998|316002|316005|316008|316013|316020|316024|316037|316038|316083|316087|316091|316093|316106|316109|316110|316122|316130|316131|316134|316137|316138|316139|316140|316141|316143|353848|361192|487348|487351|487359|539017|620314|900690|900691|900692|900693|900694|900695|900696|900697|900698|900699|900700|900701|900702|900703|900704|900705|900706|900707|900708|900709|900710|900711|900712|900713|900714|900715|900716|900717|900718|900719|900720|900721|900722|900723|900724|900725|900726|900727|900728|900729|900730|900731|900732|900733|900734|900735|900736|900737|900738|900739|900740|900741|900742|900743|900744|900745|900746|900747|900748|900749|900750|900751|900752|900753|900754|900755|900756|900757|900758|900759|900760|900761|900762|903280|903281|903282|903283|903284|903285|903286|903287", "text": "Tangier disease" }, { - "baseId": "24525|24540|24541|24542|24543|24545|227328|306296|306303|306308|306310|306318|306320|306321|306329|306343|306344|306353|306357|306358|306363|306367|306368|306373|306375|306376|306383|306386|306387|306388|306398|306400|306401|306402|310412|310419|310421|310423|310425|310427|310430|310433|310443|310444|310453|310454|310462|310471|310472|310475|310477|310490|310491|310492|310493|310494|310510|310512|310525|310526|310527|310528|310532|310533|310534|310537|310542|310543|310546|312407|312417|312421|312422|312424|315754|315756|315758|315759|315760|315767|315769|315770|315772|315773|315787|315802|315810|315817|315818|315819|315830|315832|315834|315839|315840|315846|315847|315848|315849|315864|315865|315868|315869|315870|315871|315879|315880|315883|315884|315885|315886|315889|315897|315910|315911|315912|315914|315918|315919|315933|315940|315945|315952|315958|315959|315961|315962|315964|315966|315970|315973|315974|315985|315994|315996|315997|315998|316002|316005|316008|316013|316020|316024|316037|316038|316083|316087|316091|316093|316106|316110|316122|316130|316131|316134|316137|316139|316140|316141|318297|318298|324450|325163|325164|325168|325178|487348|487351|487359|495696|620314|621343|867058|867059|867060|867061|867062|867063|867064|900690|900691|900692|900693|900694|900695|900696|900697|900698|900699|900700|900701|900702|900703|900704|900705|900706|900707|900708|900709|900710|900711|900712|900713|900714|900715|900716|900717|900718|900719|900720|900721|900722|900723|900724|900725|900726|900727|900728|900729|900730|900731|900732|900733|900734|900735|900736|900737|900738|900739|900740|900741|900742|900743|900744|900745|900746|900747|900748|900749|900750|900751|900752|900753|900754|900755|900756|900757|900758|900759|900760|900761|900762|903280|903281|903282|903283|903284|903285|903286|903287", + "upstreamId": "24525|24540|24541|24542|24543|24545|227328|306296|306303|306308|306310|306318|306320|306321|306329|306343|306344|306353|306357|306358|306363|306367|306368|306373|306375|306376|306383|306386|306387|306388|306398|306400|306401|306402|310412|310419|310421|310423|310425|310427|310430|310433|310443|310444|310453|310454|310462|310471|310472|310475|310477|310490|310491|310492|310493|310494|310510|310512|310525|310526|310527|310528|310532|310533|310534|310537|310542|310543|310546|312407|312417|312421|312422|312424|315754|315756|315758|315759|315760|315767|315769|315770|315772|315773|315787|315802|315810|315817|315818|315819|315830|315832|315834|315839|315840|315846|315847|315848|315849|315864|315865|315868|315869|315870|315871|315879|315880|315883|315884|315885|315886|315889|315897|315910|315911|315912|315914|315918|315919|315933|315940|315945|315952|315958|315959|315961|315962|315964|315966|315970|315973|315974|315985|315994|315996|315997|315998|316002|316005|316008|316013|316020|316024|316037|316038|316083|316087|316091|316093|316106|316110|316122|316130|316131|316134|316137|316139|316140|316141|318297|318298|324450|325163|325164|325168|325178|487348|487351|487359|495696|620314|621343|867058|867059|867060|867061|867062|867063|867064|900690|900691|900692|900693|900694|900695|900696|900697|900698|900699|900700|900701|900702|900703|900704|900705|900706|900707|900708|900709|900710|900711|900712|900713|900714|900715|900716|900717|900718|900719|900720|900721|900722|900723|900724|900725|900726|900727|900728|900729|900730|900731|900732|900733|900734|900735|900736|900737|900738|900739|900740|900741|900742|900743|900744|900745|900746|900747|900748|900749|900750|900751|900752|900753|900754|900755|900756|900757|900758|900759|900760|900761|900762|903280|903281|903282|903283|903284|903285|903286|903287", "text": "Familial hypoalphalipoproteinemia" }, { - "baseId": "24529|310464|620315", + "upstreamId": "24529|310464|620315", "text": "ABCA1-Related Disorders" }, { - "baseId": "24539", + "upstreamId": "24539", "text": "Tangier disease, variant" }, { - "baseId": "24545", + "upstreamId": "24545", "text": "Coronary heart disease in familial hypercholesterolemia, protection against" }, { - "baseId": "24546", + "upstreamId": "24546", "text": "ABCA1 polymorphism" }, { - "baseId": "24547|24548|24549|29201|29202|39402|102915|138566|138574|138577|138578|139303|194832|204470|204470|206802|238283|238284|249937|249938|251049|251050|271109|280611|280612|280613|280618|280620|280621|280626|280633|281072|281085|281098|281111|281129|281130|281131|281132|281134|281135|281136|281137|281138|282362|282363|282382|282383|282387|282391|282396|282399|282408|282416|282417|282418|282610|282612|282613|282614|282636|282657|282661|282675|282676|289675|290421|290423|290426|290431|290438|290439|293516|293520|293523|294064|294090|294091|391248|448099|448140|448238|489136|493110|515914|516009|557065|557282|558519|611368|620123|733942|763773|788762|861070|888486|888487|888488|888489|888490|888491|888492|888493|888494|888495|888496|891629|918818|964106", + "upstreamId": "24547|24548|24549|29201|29202|39402|102915|138566|138574|138577|138578|139303|194832|204470|204470|206802|238283|238284|249937|249938|251049|251050|271109|280611|280612|280613|280618|280620|280621|280626|280633|281072|281085|281098|281111|281129|281130|281131|281132|281134|281135|281136|281137|281138|282362|282363|282382|282383|282387|282391|282396|282399|282408|282416|282417|282418|282610|282612|282613|282614|282636|282657|282661|282675|282676|289675|290421|290423|290426|290431|290438|290439|293516|293520|293523|294064|294090|294091|391248|448099|448140|448238|489136|493110|515914|516009|557065|557282|558519|611368|620123|733942|763773|788762|861070|888486|888487|888488|888489|888490|888491|888492|888493|888494|888495|888496|891629|918818|964106", "text": "Thrombocythemia 1" }, { - "baseId": "24554|24555|24556|24557|38979|38980|38981|38982|38983|188073|188074|188075|273103|273131|329582|329583|329584|329585|329586|336193|336206|336207|338097|338104|338106|491931|535705|552178|654138|791415|800363|871960|871961|871962|871963|871964|871965|871966|871970", + "upstreamId": "24554|24555|24556|24557|38979|38980|38981|38982|38983|188073|188074|188075|273103|273131|329582|329583|329584|329585|329586|336193|336206|336207|338097|338104|338106|491931|535705|552178|654138|791415|800363|871960|871961|871962|871963|871964|871965|871966|871970", "text": "Syndromic microphthalmia type 5" }, { - "baseId": "24562|24563|24564|24565|84382|278463|278465|278473|278474|278476|278482|278488|278490|278491|278494|278498|278499|278504|278511|278571|278573|278581|278582|278583|278596|278597|278599|278602|278603|278604|278606|278608|278628|278637|279755|279756|279757|279766|279768|279776|279777|279843|279861|279870|279895|279904|279905|279919|279923|279924|279927|279932|279933|279934|279940|279941|447437|447562|549510|549513|549514|549515|549517|619984|620712|620713|696400|707004|707005|718544|718546|718547|863312|863313|863314|863315|863316|863317|863318|863319|863320|863321|863322|863323|863324|863325|863326|863327|863328|863329|863330|865095|865096|952217", + "upstreamId": "24562|24563|24564|24565|84382|278463|278465|278473|278474|278476|278482|278488|278490|278491|278494|278498|278499|278504|278511|278571|278573|278581|278582|278583|278596|278597|278599|278602|278603|278604|278606|278608|278628|278637|279755|279756|279757|279766|279768|279776|279777|279843|279861|279870|279895|279904|279905|279919|279923|279924|279927|279932|279933|279934|279940|279941|447437|447562|549510|549513|549514|549515|549517|619984|620712|620713|696400|707004|707005|718544|718546|718547|863312|863313|863314|863315|863316|863317|863318|863319|863320|863321|863322|863323|863324|863325|863326|863327|863328|863329|863330|865095|865096|952217", "text": "Chitotriosidase deficiency" }, { - "baseId": "24566|24567|24568|24569|24570|24571|106762|106764|353887|414768|920138", + "upstreamId": "24566|24567|24568|24569|24570|24571|106762|106764|353887|414768|920138", "text": "Pelger-Hu\u00ebt anomaly" }, { - "baseId": "24566|414768|536125|536126|536127|536128", + "upstreamId": "24566|414768|536125|536126|536127|536128", "text": "Regressive spondylometaphyseal dysplasia" }, { - "baseId": "24568|24572|106762|106763|106764|106765|215191|226718|226719|237384|249738|249740|249741|279344|279348|279353|279356|279357|279363|279368|279371|279372|279375|279551|279553|279559|279560|279561|279576|279578|279583|279584|279585|279587|279588|279589|279591|279594|279595|279596|280852|280853|280856|280859|280861|280862|280864|280865|280867|280959|280960|280994|280995|280996|281003|281007|414768|576522|718690|718691|732185|732188|743720|746178|758868|758871|758875|863760|863761|863762|863763|863764|863765|863766|863767|863768|863769|863770|863771|863772|863773|863774|863775|863776|863777|863778|863779|863780|863781|863782|863783|863784|863785|863786|863787|865131|865132", + "upstreamId": "24568|24572|106762|106763|106764|106765|215191|226718|226719|237384|249738|249740|249741|279344|279348|279353|279356|279357|279363|279368|279371|279372|279375|279551|279553|279559|279560|279561|279576|279578|279583|279584|279585|279587|279588|279589|279591|279594|279595|279596|280852|280853|280856|280859|280861|280862|280864|280865|280867|280959|280960|280994|280995|280996|281003|281007|414768|576522|718690|718691|732185|732188|743720|746178|758868|758871|758875|863760|863761|863762|863763|863764|863765|863766|863767|863768|863769|863770|863771|863772|863773|863774|863775|863776|863777|863778|863779|863780|863781|863782|863783|863784|863785|863786|863787|865131|865132", "text": "Greenberg dysplasia" }, { - "baseId": "24572|414768", + "upstreamId": "24572|414768", "text": "Reynolds syndrome" }, { - "baseId": "24576", + "upstreamId": "24576", "text": "Neurofibrosarcoma" }, { - "baseId": "24577", + "upstreamId": "24577", "text": "Opioid dependence 1" }, { - "baseId": "24577", + "upstreamId": "24577", "text": "naloxone response - Efficacy" }, { - "baseId": "24577", + "upstreamId": "24577", "text": "alfentanil response - Dosage, Efficacy, Metabolism/PK" }, { - "baseId": "24577", + "upstreamId": "24577", "text": "buprenorphine response - Dosage, Efficacy, Metabolism/PK" }, { - "baseId": "24577", + "upstreamId": "24577", "text": "Drugs used in opioid dependence response - Dosage, Efficacy, Metabolism/PK" }, { - "baseId": "24577", + "upstreamId": "24577", "text": "fentanyl response - Dosage, Efficacy, Metabolism/PK" }, { - "baseId": "24577", + "upstreamId": "24577", "text": "heroin response - Dosage, Efficacy, Metabolism/PK" }, { - "baseId": "24577", + "upstreamId": "24577", "text": "morphine response - Dosage, Efficacy, Metabolism/PK" }, { - "baseId": "24577", + "upstreamId": "24577", "text": "opioids response - Dosage, Efficacy, Metabolism/PK" }, { - "baseId": "24577", + "upstreamId": "24577", "text": "tramadol response - Dosage, Efficacy, Metabolism/PK" }, { - 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"text": "Tramadol response" }, { - "baseId": "24578|134241|134242|134243|134244|134245|134246|207948|254503|254506|254508|254511|254513|254514|372263|372283|408647|408648|408650|415333|429414|429415|441540|444994|462151|462152|462156|462158|462401|462439|462444|462940|462946|463053|463061|463065|463072|463079|463081|463086|504415|527138|527144|527146|527167|527415|527628|527630|527634|527655|527657|565447|565457|565463|566829|566830|566832|568041|571844|571850|641112|641113|641114|641115|641116|641117|641118|641119|641120|641121|641122|641123|641124|641125|641126|652247|652709|693204|693205|693206|693207|693208|693209|695568|702306|702308|702310|738634|738635|753355|769113|784384|791233|820503|839887|839888|839889|839890|839891|839892|839893|839894|839895|839896|839897|839898|839899|839900|839901|839902|839903|926616|926617|926618|926619|926620|926621|926622|936112|948005|948006|948007|948008|948009|948010|948011|948012|956863|956864|956865|956866|956867", + "upstreamId": "24578|134241|134242|134243|134244|134245|134246|207948|254503|254506|254508|254511|254513|254514|372263|372283|408647|408648|408650|415333|429414|429415|441540|444994|462151|462152|462156|462158|462401|462439|462444|462940|462946|463053|463061|463065|463072|463079|463081|463086|504415|527138|527144|527146|527167|527415|527628|527630|527634|527655|527657|565447|565457|565463|566829|566830|566832|568041|571844|571850|641112|641113|641114|641115|641116|641117|641118|641119|641120|641121|641122|641123|641124|641125|641126|652247|652709|693204|693205|693206|693207|693208|693209|695568|702306|702308|702310|738634|738635|753355|769113|784384|791233|820503|839887|839888|839889|839890|839891|839892|839893|839894|839895|839896|839897|839898|839899|839900|839901|839902|839903|926616|926617|926618|926619|926620|926621|926622|936112|948005|948006|948007|948008|948009|948010|948011|948012|956863|956864|956865|956866|956867", "text": "Myopathy, congenital, compton-north" }, { - "baseId": "24579|24580|24581|24582|24583|24584", + "upstreamId": "24579|24580|24581|24582|24583|24584", "text": "Bare lymphocyte syndrome type 2, complementation group A" }, { - "baseId": 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+ "upstreamId": "24586|140349|140350|140351|140352|166021|171118|171119|171120|171121|171122|171123|178613|178614|188478|188483|188484|188485|188486|188487|188488|188489|188490|188492|189313|189314|189317|189319|195796|212762|212763|221941|224385|240754|240755|240757|240758|253715|253716|253717|258637|258639|258640|309994|315000|315012|315013|321050|321601|321602|321615|362738|389940|397186|397187|397192|397410|397576|397579|397589|397744|397748|397751|404786|407836|407843|425869|459742|459744|459745|459920|460191|460631|460636|510159|512837|512838|512839|525047|525049|525055|525237|525244|525245|525248|525251|525253|525256|525258|525353|525366|525368|525374|525548|525550|525552|525553|551709|563648|563650|563655|564535|566221|566224|566235|569585|569593|638822|638823|638824|638825|638826|638827|653950|684166|687612|687613|687614|689977|689978|692821|767689|783579|820200|836745|836746|836747|836748|836749|836750|836751|836752|836753|836754|836755|852239|925779|925780|935003|935004|940953|946850|946851|946852|946853|956025|956026|956027|956028|956029|961005", "text": "Brugada syndrome 4" }, { - "baseId": "24587", + "upstreamId": "24587", "text": "Ataxia, progressive seizures, mental deterioration, and hearing loss" }, { - "baseId": 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+ "upstreamId": 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"text": "Juvenile myopathy, encephalopathy, lactic acidosis AND stroke" }, { - "baseId": "24588|45818|181416|181420|181426|181450|679707|679709", + "upstreamId": "24588|45818|181416|181420|181426|181450|679707|679709", "text": "Neonatal death" }, { - "baseId": "24589", + "upstreamId": "24589", "text": "Exercise intolerance and complex III deficiency, somatic" }, { - "baseId": "24590|24591|24638|424215", + "upstreamId": "24590|24591|24638|424215", "text": "Kearns Sayre syndrome" }, { - "baseId": "24592", + "upstreamId": "24592", "text": "Focal segmental glomerulosclerosis and dilated cardiomyopathy" }, { - "baseId": "24593|24594|38960|354305|550203|550204|980879", + "upstreamId": "24593|24594|38960|354305|550203|550204|980879", "text": "Mitochondrial encephalopathy" }, { - "baseId": "24595|24617|24626|24656|24664|33288|142556|142557|142560|142561|142562|152778|172075|172076|211588|217217|229075|354293|503924|612469|679205|738547", + "upstreamId": "24595|24617|24626|24656|24664|33288|142556|142557|142560|142561|142562|152778|172075|172076|211588|217217|229075|354293|503924|612469|679205|738547", "text": "Mitochondrial myopathy" }, { - "baseId": "24596", + "upstreamId": "24596", "text": "Neurogastrointestinal syndrome, mitochondrial" }, { - "baseId": "24597", + "upstreamId": "24597", "text": "Encephalocardiomyopathy, mitochondrial" }, { - "baseId": "24599", + "upstreamId": "24599", "text": "Cerebellar ataxia, cataract, and diabetes mellitus" }, { - "baseId": "24599|54805|54812|54826|54839|54842|55037|55056|55057|55078|55102|55120|55143|55167|55193|55205|55236|55237|55245|55653|55658|172769|174544|175230|175287|175289|247044|253830|278929|278958|279100|280392|280397|280424|289918|293005|293389|293396|293404|293405|295655|310529|310535|310662|310741|310742|310745|315636|315674|315906|315931|315967|315972|316006|316010|316044|316047|316048|316100|316153|321656|322088|322101|322102|322105|322106|322108|322109|322395|322646|322651|322653|322702|322713|322714|322725|322726|325652|328178|329416|329796|336966|340100|340101|347193|353204|353205|353453|790978|790979", + "upstreamId": "24599|54805|54812|54826|54839|54842|55037|55056|55057|55078|55102|55120|55143|55167|55193|55205|55236|55237|55245|55653|55658|172769|174544|175230|175287|175289|247044|253830|278929|278958|279100|280392|280397|280424|289918|293005|293389|293396|293404|293405|295655|310529|310535|310662|310741|310742|310745|315636|315674|315906|315931|315967|315972|316006|316010|316044|316047|316048|316100|316153|321656|322088|322101|322102|322105|322106|322108|322109|322395|322646|322651|322653|322702|322713|322714|322725|322726|325652|328178|329416|329796|336966|340100|340101|347193|353204|353205|353453|790978|790979", "text": "Retinitis pigmentosa-deafness syndrome" }, { - "baseId": "24600|24601|24619|24628|24649", + "upstreamId": "24600|24601|24619|24628|24649", "text": "MERRF/MELAS overlap syndrome" }, { - "baseId": "24601|51396", + "upstreamId": "24601|51396", "text": "Mitochondrial cytochrome c oxidase deficiency" }, { - "baseId": "24602|32054|32066|32076|243935|487604", + "upstreamId": "24602|32054|32066|32076|243935|487604", "text": "Palmoplantar keratoderma-deafness syndrome" }, { - "baseId": "24602|24604|24605|24607|24642|24667|24667|24669|24670|24671|24672|24673|24702|38953|38959|48657|49378|51396|143262|619823|619824", + "upstreamId": "24602|24604|24605|24607|24642|24667|24667|24669|24670|24671|24672|24673|24702|38953|38959|48657|49378|51396|143262|619823|619824", "text": "Deafness, nonsyndromic sensorineural, mitochondrial" }, { - "baseId": "24608", + "upstreamId": "24608", "text": "Exercise intolerance, muscle pain, and lactic acidemia" }, { - "baseId": "24611", + "upstreamId": "24611", "text": "MERFF syndrome" }, { - "baseId": "24613|24618|24619|24620|24624|24628|24629|24630|24742", + "upstreamId": "24613|24618|24619|24620|24624|24628|24629|24630|24742", "text": "MERRF syndrome" }, { - "baseId": "24614", + "upstreamId": "24614", "text": "Myopathy, mitochondrial, late-onset" }, { - "baseId": "24615|24616", + "upstreamId": "24615|24616", "text": "Epilepsy, mitochondrial" }, { - "baseId": "24620", + "upstreamId": "24620", "text": "Cardiomyopathy and Deafness" }, { - "baseId": "24621", + "upstreamId": "24621", "text": "Progressive external ophthalmoplegia with myoclonus" }, { - "baseId": "24622|28542|28544|31692|31693|31694|31695|31696|31697|31698|31699|31700|31701|31702|31703|31704|31705|136139|136140|141573|141574|141575|141576|141579|141581|141582|141583|142784|142785|142787|142788|142789|142791|203044|211973|211976|211980|211983|211984|211989|211990|211991|224729|224731|224732|224733|224736|224738|224739|224740|224742|224743|224744|224745|224746|224747|224748|224749|224750|224751|224754|224755|224756|224757|224758|224761|224763|224764|224765|224766|224768|224769|224771|224773|224774|224775|224776|224777|224778|224779|224780|224781|224782|224783|224787|224788|224789|224790|224792|224793|224794|224795|224796|224797|224798|224799|224800|224801|224802|224803|224804|224805|224806|224808|224810|224811|224812|224813|257713|338584|338585|338593|338597|338599|338601|338602|348160|348167|348174|348175|348177|351827|351828|351830|351831|351832|351834|351835|351838|351840|352680|352681|352682|352683|352684|352685|434129|434130|508218|549170|549172|620930|682368|816497|891503|891504|891505|891506|891507|891508|891509", + "upstreamId": "24622|28542|28544|31692|31693|31694|31695|31696|31697|31698|31699|31700|31701|31702|31703|31704|31705|136139|136140|141573|141574|141575|141576|141579|141581|141582|141583|142784|142785|142787|142788|142789|142791|203044|211973|211976|211980|211983|211984|211989|211990|211991|224729|224731|224732|224733|224736|224738|224739|224740|224742|224743|224744|224745|224746|224747|224748|224749|224750|224751|224754|224755|224756|224757|224758|224761|224763|224764|224765|224766|224768|224769|224771|224773|224774|224775|224776|224777|224778|224779|224780|224781|224782|224783|224787|224788|224789|224790|224792|224793|224794|224795|224796|224797|224798|224799|224800|224801|224802|224803|224804|224805|224806|224808|224810|224811|224812|224813|257713|338584|338585|338593|338597|338599|338601|338602|348160|348167|348174|348175|348177|351827|351828|351830|351831|351832|351834|351835|351838|351840|352680|352681|352682|352683|352684|352685|434129|434130|508218|549170|549172|620930|682368|816497|891503|891504|891505|891506|891507|891508|891509", "text": "Mitochondrial DNA depletion syndrome 1 (MNGIE type)" }, { - "baseId": "24623|24628|24656|262350", + "upstreamId": "24623|24628|24656|262350", "text": "Diabetes-deafness syndrome maternally transmitted" }, { - "baseId": "24625|24633|24662|24719|38955|38962|48423|48430|76995", + "upstreamId": "24625|24633|24662|24719|38955|38962|48423|48430|76995", "text": "Mitochondrial encephalomyopathy" }, { - "baseId": "24627|550141|550142|550143|550144|550145|550146|550147", + "upstreamId": "24627|550141|550142|550143|550144|550145|550146|550147", "text": "Cardiomyopathy, mitochondrial" }, { - "baseId": "24628", + "upstreamId": "24628", "text": "Muscle stiffness, painful" }, { - "baseId": "24628", + "upstreamId": "24628", "text": "Cyclical vomiting syndrome" }, { - "baseId": "24628|32059|176723|186432|236877|263185|263248|354294|359177|359178|360876|361080|437859|508754|508758|513902|513971|550163|551445|578007|581736|612033|614154|623104|623105|623106|623107|623607|679341|682750|682755|682761|682863|857409|857412|857413|857415|859391|961221|961433|965405", + "upstreamId": "24628|32059|176723|186432|236877|263185|263248|354294|359177|359178|360876|361080|437859|508754|508758|513902|513971|550163|551445|578007|581736|612033|614154|623104|623105|623106|623107|623607|679341|682750|682755|682761|682863|857409|857412|857413|857415|859391|961221|961433|965405", "text": "Sensorineural hearing loss" }, { - "baseId": "24628", + "upstreamId": "24628", "text": "Glucose intolerance" }, { - "baseId": "24630", + "upstreamId": "24630", "text": "Diabetes mellitus, noninsulin-dependent, maternally transmitted" }, { - "baseId": "24631|24635", + "upstreamId": "24631|24635", "text": "Cardiomyopathy with or without skeletal myopathy" }, { - "baseId": "24632", + "upstreamId": "24632", "text": "Skeletal myopathy, responsive to riboflavin" }, { - "baseId": "24634", + "upstreamId": "24634", "text": "Progressive external ophthalmoplegia, proximal myopathy, and sudden death" }, { - "baseId": "24637", + "upstreamId": "24637", "text": "Neuropsychiatric disorder and early-onset cataract" }, { - "baseId": "24639|27386|27395|27641|27642|27652|28938|28940|29755|38666|38677|39943|48247|48938|48939|48940|166215|172332|205216|216786|216787|236469|239104|242980|362755|362759|362760|362761|362768|362770|362771|362772|362866|362867|362868|362903|362904|362905|363412|363531|393498|393500|393746|428133|452262|539096|539097|578573|919910|964095|976556", + "upstreamId": "24639|27386|27395|27641|27642|27652|28938|28940|29755|38666|38677|39943|48247|48938|48939|48940|166215|172332|205216|216786|216787|236469|239104|242980|362755|362759|362760|362761|362768|362770|362771|362772|362866|362867|362868|362903|362904|362905|363412|363531|393498|393500|393746|428133|452262|539096|539097|578573|919910|964095|976556", "text": "Myelodysplastic syndrome" }, { - "baseId": "24640", + "upstreamId": "24640", "text": "Cardiomyopathy, fatal infantile" }, { - "baseId": "24641", + "upstreamId": "24641", "text": "Cardiomyopathy, fatal" }, { - "baseId": "24643|24722", + "upstreamId": "24643|24722", "text": "Multisystem disorder" }, { - "baseId": "24644", + "upstreamId": "24644", "text": "Encephalopathy, familial progressive necrotizing" }, { - "baseId": "24645|45304|51954|179175|963070|963071", + "upstreamId": "24645|45304|51954|179175|963070|963071", "text": "Asymmetric septal hypertrophy" }, { - "baseId": "24646", + "upstreamId": "24646", "text": "Hypertension, hypercholesterolemia, and hypomagnesemia, mitochondrial" }, { - "baseId": "24647", + "upstreamId": "24647", "text": "Cardiomyopathy, idiopathic dilated, mitochondrial" }, { - "baseId": "24647", + "upstreamId": "24647", "text": "Cardiomyopathy, hypertrophic, mitochondrial" }, { - "baseId": "24648", + "upstreamId": "24648", "text": "Pigmentary retinopathy and sensorineural deafness" }, { - "baseId": "24651|24717|24718|24720|24721", + "upstreamId": "24651|24717|24718|24720|24721", "text": "Exercise intolerance" }, { - "baseId": "24652|259847|354290|515677", + "upstreamId": "24652|259847|354290|515677", "text": "Sudden death" }, { - "baseId": "24654", + "upstreamId": "24654", "text": "Sensorineural deafness and migraine" }, { - "baseId": "24656", + "upstreamId": "24656", "text": "Myopathy, mitochondrial, with diabetes mellitus" }, { - "baseId": "24657|24696|24717|24718|24720|24722|38958|680328|680382|680897|680908|681121|681160|681253|681497", + "upstreamId": "24657|24696|24717|24718|24720|24722|38958|680328|680382|680897|680908|681121|681160|681253|681497", "text": "Mitochondrial myopathy, infantile, transient" }, { - "baseId": "24658", + "upstreamId": "24658", "text": "Mitochondrial myopathy, isolated" }, { - "baseId": "24659|24660", + "upstreamId": "24659|24660", "text": "Ophthalmoplegia, isolated" }, { - "baseId": "24661", + "upstreamId": "24661", "text": "MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2" }, { - "baseId": "24663", + "upstreamId": "24663", "text": "Myotonic dystrophy-like myopathy" }, { - "baseId": "24665|24666", + "upstreamId": "24665|24666", "text": "Chloramphenicol resistance" }, { - "baseId": "24667|24667|24668|24670|24671|24673|24702", + "upstreamId": "24667|24667|24668|24670|24671|24673|24702", "text": "Aminoglycoside-induced deafness" }, { - "baseId": "24667|27463|27463|27465|44675|44676|52080|52190|53659|54077|54949|99318|100371|172503|175451|175624|175645|176070|176073|176208|176214|178557|178683|178685|178749|258510|403833|438509|457357|535269|540432|540433|609028|679387|679431|679432|679472|828189", + "upstreamId": "24667|27463|27463|27465|44675|44676|52080|52190|53659|54077|54949|99318|100371|172503|175451|175624|175645|176070|176073|176208|176214|178557|178683|178685|178749|258510|403833|438509|457357|535269|540432|540433|609028|679387|679431|679432|679472|828189", "text": "Restrictive cardiomyopathy" }, { - "baseId": "24667|24670|24671", + "upstreamId": "24667|24670|24671", "text": "aminoglycoside antibacterials response - Toxicity/ADR" }, { - "baseId": "24667|24670|24671", + "upstreamId": "24667|24670|24671", "text": "amikacin response - Toxicity/ADR" }, { - "baseId": "24667|24670|24671", + "upstreamId": "24667|24670|24671", "text": "gentamicin response - Toxicity/ADR" }, { - "baseId": "24667|24670|24671", + "upstreamId": "24667|24670|24671", "text": "kanamycin response - Toxicity/ADR" }, { - "baseId": "24667|24670|24671", + "upstreamId": "24667|24670|24671", "text": "neomycin response - Toxicity/ADR" }, { - "baseId": "24667|24670|24671", + "upstreamId": "24667|24670|24671", "text": "streptomycin response - Toxicity/ADR" }, { - "baseId": "24667|24670|24671", + "upstreamId": "24667|24670|24671", "text": "tobramycin response - Toxicity/ADR" }, { - "baseId": "24667|24671|24673", + "upstreamId": "24667|24671|24673", "text": "Gentamicin response" }, { - "baseId": "24670", + "upstreamId": "24670", "text": "Auditory neuropathy" }, { - "baseId": "24677", + "upstreamId": "24677", "text": "Brain pseudoatrophy, reversible, valproate-induced, susceptibility to" }, { - "baseId": "24678", + "upstreamId": "24678", "text": "Cardiomyopathy, apical hypertrophic, and neuropathy" }, { - "baseId": "24679", + "upstreamId": "24679", "text": "Cardiomyopathy, infantile hypertrophic" }, { - "baseId": "24679|24723|188131|248609", + "upstreamId": "24679|24723|188131|248609", "text": "Histiocytoid cardiomyopathy" }, { - "baseId": "24680|24681|24687|576199|681583", + "upstreamId": "24680|24681|24687|576199|681583", "text": "NARP syndrome" }, { - "baseId": "24680|24681|24683|24686|24689", + "upstreamId": "24680|24681|24683|24686|24689", "text": "Mitochondrial complex v (atp synthase) deficiency, mitochondrial type 1" }, { - "baseId": "24681", + "upstreamId": "24681", "text": "Ataxia and polyneuropathy, adult-onset" }, { - "baseId": "24682|24690|24691|24702|24713|24714|24727|24728|24729|24730|24732|24735|24736|24739|24742|24743|24746|24747|24749|24750|24755|24756|24757|24761|24762|24763|24764|24766|24771|24772|24775|38954|76416|76417|76418|76419|76420|76421|76422|76423|76424|76425|76426|76427|76428|76829|237206|354298|424207|513236|514149|576199|677958|980887|983838", + "upstreamId": "24682|24690|24691|24702|24713|24714|24727|24728|24729|24730|24732|24735|24736|24739|24742|24743|24746|24747|24749|24750|24755|24756|24757|24761|24762|24763|24764|24766|24771|24772|24775|38954|76416|76417|76418|76419|76420|76421|76422|76423|76424|76425|76426|76427|76428|76829|237206|354298|424207|513236|514149|576199|677958|980887|983838", "text": "Leber's optic atrophy" }, { - "baseId": "24683|24684", + "upstreamId": "24683|24684", "text": "Striatonigral degeneration, infantile, mitochondrial" }, { - "baseId": "24685", + "upstreamId": "24685", "text": "Seizures and lactic acidosis" }, { - "baseId": "24693", + "upstreamId": "24693", "text": "Mitochondrial complex IV deficiency with recurrent myoglobinuria" }, { - "baseId": "24703|24704", + "upstreamId": "24703|24704", "text": "Sideroblastic anemia, acquired idiopathic" }, { - "baseId": "24708", + "upstreamId": "24708", "text": "Myoglobinuria, recurrent" }, { - "baseId": "24709|24710", + "upstreamId": "24709|24710", "text": "Cytochrome c oxidase i deficiency" }, { - "baseId": "24724", + "upstreamId": "24724", "text": "Exercise intolerance, cardiomyopathy, and septooptic dysplasia" }, { - "baseId": "24725", + "upstreamId": "24725", "text": "Parkinsonism/MELAS overlap syndrome" }, { - "baseId": "24728|24729|24749|24754|24772", + "upstreamId": "24728|24729|24749|24754|24772", "text": "Leber optic atrophy and dystonia" }, { - "baseId": "24728|24733|24737|24739|24740|24741|24742|24760", + "upstreamId": "24728|24733|24737|24739|24740|24741|24742|24760", "text": "Leigh syndrome due to mitochondrial complex I deficiency" }, { - "baseId": "24733", + "upstreamId": "24733", "text": "Striatal necrosis, bilateral, with dystonia" }, { - "baseId": "24751|24753|24754", + "upstreamId": "24751|24753|24754", "text": "Mitochondrial complex 1 deficiency, mitochondrial type 1" }, { - "baseId": "24752", + "upstreamId": "24752", "text": "Parkinson disease, resistance to" }, { - "baseId": "24761|24770", + "upstreamId": "24761|24770", "text": "MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 3" }, { - "baseId": "24769", + "upstreamId": "24769", "text": "Dystonia, adult-onset" }, { - "baseId": "24776|24777|24778|24779|24780|24781|24782|24783|24784|24785|24786|24787|24788|24789|24790|24791|24792|24793|24794|24795|380292|430955|472023|472025|485860|485861|535003|535213|650304|650305|694972|774283|929847", + "upstreamId": "24776|24777|24778|24779|24780|24781|24782|24783|24784|24785|24786|24787|24788|24789|24790|24791|24792|24793|24794|24795|380292|430955|472023|472025|485860|485861|535003|535213|650304|650305|694972|774283|929847", "text": "46,XY sex reversal, type 1" }, { - "baseId": "24780", + "upstreamId": "24780", "text": "46,XY true hermaphroditism, SRY-related" }, { - "baseId": "24796", + "upstreamId": "24796", "text": "Spermatogenic failure, Y-linked 2" }, { - "baseId": "24797", + "upstreamId": "24797", "text": "Hypospermatogenesis, nonobstructive, Y-linked" }, { - "baseId": "24798", + "upstreamId": "24798", "text": "Mental retardation, X-linked 45" }, { - "baseId": "24801|24802|136291|136294|136295|209310|339622|339624|339626|339627|339629|349116|349119|352460|352461|352462|352463|352970|352971|352972|352973|352974|352975|404662|404663|446797|486665|513696|583141|903255|903256|903257|903258|903259|903260|903261|903262|920073|964637", + "upstreamId": "24801|24802|136291|136294|136295|209310|339622|339624|339626|339627|339629|349116|349119|352460|352461|352462|352463|352970|352971|352972|352973|352974|352975|404662|404663|446797|486665|513696|583141|903255|903256|903257|903258|903259|903260|903261|903262|920073|964637", "text": "ZNF711-Related X-linked Mental Retardation" }, { - "baseId": "24803|24804|24805|24806|24807|24808|24809|24810", + "upstreamId": "24803|24804|24805|24806|24807|24808|24809|24810", "text": "McLeod neuroacanthocytosis syndrome" }, { - "baseId": "24811|24812|24813|24814|24815|24816|24817|38951|38952|134820|209093|248653|361245|362394|384427|424348|424677|446693|511020|513397|550656|583139|611453|611454|611455|622946|626322|653905|653906|678951|802237|804852|857381|861663|961360|961638|969302|971215|971216", + "upstreamId": "24811|24812|24813|24814|24815|24816|24817|38951|38952|134820|209093|248653|361245|362394|384427|424348|424677|446693|511020|513397|550656|583139|611453|611454|611455|622946|626322|653905|653906|678951|802237|804852|857381|861663|961360|961638|969302|971215|971216", "text": "Mental retardation, syndromic, Claes-Jensen type, X-linked" }, { - "baseId": "24818", + "upstreamId": "24818", "text": "X inactivation, familial skewed, 1" }, { - "baseId": "24819|24820|24821|339239|339251|339252|339255|339257|348762|348763|348766|348768|348774|348775|348776|348779|348780|352251|352252|352253|352254|352255|352256|352868|352869|352870|353866|470830|471559|471561|471884|471885|471889|472156|472157|492757|508273|508286|508580|508582|508674|508675|534820|534870|534883|534971|534973|534980|534981|534990|534998|535171|535172|535173|535174|535175|539114|572497|572500|574734|574736|575416|575417|650059|650060|650061|650062|650063|650064|650065|650066|650067|650068|650069|650070|650071|650072|650073|650074|653457|656779|689512|694888|694889|694890|694891|694893|694895|694897|706239|717794|743340|758506|758508|758510|760866|774062|774064|774065|774067|778703|786839|822225|850070|850071|850072|850073|850074|850075|850076|850077|850078|850079|852518|903063|903064|903065|903066|903067|903068|903475|903476|903477|920028|920029|929736|929737|929738|929739|929740|939601|939602|939603|939604|939605|951808|951809|959307|959308", + "upstreamId": "24819|24820|24821|339239|339251|339252|339255|339257|348762|348763|348766|348768|348774|348775|348776|348779|348780|352251|352252|352253|352254|352255|352256|352868|352869|352870|353866|470830|471559|471561|471884|471885|471889|472156|472157|492757|508273|508286|508580|508582|508674|508675|534820|534870|534883|534971|534973|534980|534981|534990|534998|535171|535172|535173|535174|535175|539114|572497|572500|574734|574736|575416|575417|650059|650060|650061|650062|650063|650064|650065|650066|650067|650068|650069|650070|650071|650072|650073|650074|653457|656779|689512|694888|694889|694890|694891|694893|694895|694897|706239|717794|743340|758506|758508|758510|760866|774062|774064|774065|774067|778703|786839|822225|850070|850071|850072|850073|850074|850075|850076|850077|850078|850079|852518|903063|903064|903065|903066|903067|903068|903475|903476|903477|920028|920029|929736|929737|929738|929739|929740|939601|939602|939603|939604|939605|951808|951809|959307|959308", "text": "Spinal muscular atrophy, X-linked 2" }, { - "baseId": "24822|24827|24828|24830|24832|24833|24834|24835|24836|24837|24838|24839|24840", + "upstreamId": "24822|24827|24828|24830|24832|24833|24834|24835|24836|24837|24838|24839|24840", "text": "Thyroxine-binding globulin quantitative trait locus" }, { - "baseId": "24823", + "upstreamId": "24823", "text": "Thyroxine-binding globulin, variant A" }, { - "baseId": "24823", + "upstreamId": "24823", "text": "Thyroxine-binding globulin deficiency" }, { - "baseId": "24824", + "upstreamId": "24824", "text": "Thyroxine-binding globulin, variant P" }, { - "baseId": "24825", + "upstreamId": "24825", "text": "Thyroxine-binding globulin, slow" }, { - "baseId": "24826|24829", + "upstreamId": "24826|24829", "text": "Thyroxine-binding globulin deficiency, partial" }, { - "baseId": "24831", + "upstreamId": "24831", "text": "Thyroxine-binding globulin, Chicago" }, { - "baseId": "24841|24842|24843|24843|24844|24845|24845|24846|24846|24847|24850|24852|24853|24854|24855|24858|24859|24862|24862|24864|24865|24866|24868|24868|24869|24869|24871|24876|24877|24878|24881|24887|24889|24889|24891|24892|24893|24895|24896|24897|24898|165510|165511|165512|165513|209141|213671|257865|260337|263527|265111|265114|265116|265118|265118|361102|390492|411438|411442|430877|430878|430883|430886|430887|442482|470430|470905|470914|470914|471654|471664|471928|471931|471937|471938|471939|471940|471942|471946|471947|471953|471954|471955|472174|472177|472178|472179|472181|472182|472183|472184|472185|485828|485829|485830|485831|485832|485833|485834|485835|485836|485837|485838|485839|485840|485841|485842|485843|485844|485845|485846|485847|485848|485849|485850|485850|485851|485852|485853|485854|485854|485855|485856|485857|485858|513400|534907|535186|535187|535188|538629|573952|573957|573960|574823|574825|575439|578598|578599|626300|650144|650145|650146|650147|650148|650149|650150|650151|650152|650153|650154|650155|650156|650157|653466|792488|792489|792592|850210|850211|850212|850213|850214|850215|850216|850217|850218|903655|929792|929793|929794|929795|939658|939659|939660|951861|951862|951863|959331|963207|967241|971226|975668|977309", + "upstreamId": "24841|24842|24843|24843|24844|24845|24845|24846|24846|24847|24850|24852|24853|24854|24855|24858|24859|24862|24862|24864|24865|24866|24868|24868|24869|24869|24871|24876|24877|24878|24881|24887|24889|24889|24891|24892|24893|24895|24896|24897|24898|165510|165511|165512|165513|209141|213671|257865|260337|263527|265111|265114|265116|265118|265118|361102|390492|411438|411442|430877|430878|430883|430886|430887|442482|470430|470905|470914|470914|471654|471664|471928|471931|471937|471938|471939|471940|471942|471946|471947|471953|471954|471955|472174|472177|472178|472179|472181|472182|472183|472184|472185|485828|485829|485830|485831|485832|485833|485834|485835|485836|485837|485838|485839|485840|485841|485842|485843|485844|485845|485846|485847|485848|485849|485850|485850|485851|485852|485853|485854|485854|485855|485856|485857|485858|513400|534907|535186|535187|535188|538629|573952|573957|573960|574823|574825|575439|578598|578599|626300|650144|650145|650146|650147|650148|650149|650150|650151|650152|650153|650154|650155|650156|650157|653466|792488|792489|792592|850210|850211|850212|850213|850214|850215|850216|850217|850218|903655|929792|929793|929794|929795|939658|939659|939660|951861|951862|951863|959331|963207|967241|971226|975668|977309", "text": "Androgen resistance syndrome" }, { - "baseId": "24843|24845|24846|24852|24857|24859|24862|24868|24869|24889|209141|260337|265114|265118|390492|404864|404865|404866|404867|411438|411442|430877|430878|430883|470430|470905|470914|471654|471664|471928|471937|471938|471939|471940|471942|471947|471953|471954|471955|472174|472178|472179|472181|472184|472185|485850|485854|534907|535186|535187|535188|573952|573957|573960|574823|574825|575439|650144|650145|650146|650147|650148|650149|650150|650151|650152|650153|650154|650155|650156|650157|653466|850210|850211|850212|850213|850214|850215|850216|850217|850218|929792|929793|929794|929795|939658|939659|939660|951861|951862|951863|959331", + "upstreamId": "24843|24845|24846|24852|24857|24859|24862|24868|24869|24889|209141|260337|265114|265118|390492|404864|404865|404866|404867|411438|411442|430877|430878|430883|470430|470905|470914|471654|471664|471928|471937|471938|471939|471940|471942|471947|471953|471954|471955|472174|472178|472179|472181|472184|472185|485850|485854|534907|535186|535187|535188|573952|573957|573960|574823|574825|575439|650144|650145|650146|650147|650148|650149|650150|650151|650152|650153|650154|650155|650156|650157|653466|850210|850211|850212|850213|850214|850215|850216|850217|850218|929792|929793|929794|929795|939658|939659|939660|951861|951862|951863|959331", "text": "Kennedy disease" }, { - "baseId": "24845|24863|24879|213671|390492|578598", + "upstreamId": "24845|24863|24879|213671|390492|578598", "text": "Hypospadias 1, X-linked" }, { - "baseId": "24845|24849|24852|24859|24861|24862|24868|24869|24880|24883|24884|24885|24886|24890|24896|24899|24900|213671|265055|390492|442482", + "upstreamId": "24845|24849|24852|24859|24861|24862|24868|24869|24880|24883|24884|24885|24886|24890|24896|24899|24900|213671|265055|390492|442482", "text": "Partial androgen insensitivity syndrome" }, { - "baseId": "24867|578598", + "upstreamId": "24867|578598", "text": "Androgen insensitivity, partial, with breast cancer" }, { - "baseId": "24888|133488", + "upstreamId": "24888|133488", "text": "Prostate cancer susceptibility" }, { - "baseId": "24900|430423|653825|653826|653827|653828|653829", + "upstreamId": "24900|430423|653825|653826|653827|653828|653829", "text": "TAFRO syndrome" }, { - "baseId": "24901|33863|404853", + "upstreamId": "24901|33863|404853", "text": "X-linked dystonia-parkinsonism" }, { - "baseId": "24902|24903|24904|24905|971210", + "upstreamId": "24902|24903|24904|24905|971210", "text": "Mental retardation, X-linked 96" }, { - "baseId": "24906|50325|50326|50327|102257|135832|135833|143086|143087|191103|191292|196342|204011|204012|204013|204016|204020|204022|204027|204029|204031|209054|209058|247196|415788|470837|470838|470840|470844|470848|470858|471566|471570|471574|471578|471595|471598|471600|471602|471891|472158|472159|486787|488164|490839|534439|534823|534889|534938|534999|572502|573885|574220|575418|575419|575420|650075|650076|650077|685013|689513|689514|758516|758517|774073|800411|816013|850080|850081|850082|850083|850084|850085|850086|850087|850088|851972|920030|920452|920453|921222|929741|929742|929743|929744|929745|939606|939607|939608|940563|951810|951811|951812|959309|960384|960385|960987|963980", + "upstreamId": "24906|50325|50326|50327|102257|135832|135833|143086|143087|191103|191292|196342|204011|204012|204013|204016|204020|204022|204027|204029|204031|209054|209058|247196|415788|470837|470838|470840|470844|470848|470858|471566|471570|471574|471578|471595|471598|471600|471602|471891|472158|472159|486787|488164|490839|534439|534823|534889|534938|534999|572502|573885|574220|575418|575419|575420|650075|650076|650077|685013|689513|689514|758516|758517|774073|800411|816013|850080|850081|850082|850083|850084|850085|850086|850087|850088|851972|920030|920452|920453|921222|929741|929742|929743|929744|929745|939606|939607|939608|940563|951810|951811|951812|959309|960384|960385|960987|963980", "text": "Epilepsy, X-linked, with variable learning disabilities and behavior disorders" }, { - "baseId": "24907", + "upstreamId": "24907", "text": "Mental retardation, X-linked, with isolated growth hormone deficiency" }, { - "baseId": "24908|24909|919979", + "upstreamId": "24908|24909|919979", "text": "Panhypopituitarism, X-linked" }, { - "baseId": "24911|45434|45435|45436|45437|76989|99002|189164|189165|189166|260556|260557|260558|260559|260560|260809|361265|384509|488077|623372|792518|921525|971233|980406|980407", + "upstreamId": "24911|45434|45435|45436|45437|76989|99002|189164|189165|189166|260556|260557|260558|260559|260560|260809|361265|384509|488077|623372|792518|921525|971233|980406|980407", "text": "Short stature, idiopathic, X-linked" }, { - "baseId": "24912|24913|24914|24915|24916|24917|24918|24921|24922|24923|38949|38950|76989|550853", + "upstreamId": "24912|24913|24914|24915|24916|24917|24918|24921|24922|24923|38949|38950|76989|550853", "text": "Leri-Weill dyschondrosteosis" }, { - "baseId": "24913|24918|24919|24920|24923|38949", + "upstreamId": "24913|24918|24919|24920|24923|38949", "text": "Langer mesomelic dysplasia syndrome" }, { - "baseId": "24924", + "upstreamId": "24924", "text": "SEROTONIN 5-HT-2C RECEPTOR POLYMORPHISM" }, { - "baseId": "24925|24926|24927|24928|24929|24930|24931|24932|24933|24934|24935|78963|104800|104813|104850|104869|104880|104887|104896|358692|358693|360557|537556|717750|729532|758416|758417|758418|773945|776904|786770|801469|851952|919998|919999|980974", + "upstreamId": "24925|24926|24927|24928|24929|24930|24931|24932|24933|24934|24935|78963|104800|104813|104850|104869|104880|104887|104896|358692|358693|360557|537556|717750|729532|758416|758417|758418|773945|776904|786770|801469|851952|919998|919999|980974", "text": "Juvenile retinoschisis" }, { - "baseId": "24934|104827|104828|104846|104849|104872|104884|800628", + "upstreamId": "24934|104827|104828|104846|104849|104872|104884|800628", "text": "Retinoschisis" }, { - "baseId": "24936|24937|24938|24939|24940|24941|24942|24943|24944|24945|24946|24947|24948|24949|24950|24959|24960|96865|104699|181395|192431|213666|265159|339211|339226|348750|348755|348757|352861|352864|418830|431819|431821|513165|551593|551595|551597|551599|551600|611982|611983|614094|792434|792457|792458|792459|800629|800631|800639|801477|802234|816012|856981|856982|856984|856985|856986|856987|856988|856989|856990|856991|856992|856993|856994|856995|856996|856997|856998|856999|857000|857001|857003|857004|857005|857006|857007|857008|857009|857010|857011|857012|857013|857014|857015|857016|857017|857018|857019|857021|857022|857023|857024|857025|857026|857027|857028|857029|857030|857031|857032|857033|857034|857035|857036|857037|857038|857061|860850|860857|920014|920015|920016|920450|920606|963400|963401|963402|963403|963404|963405|963406|963407|963408|963409|963410|963411|963412|963413|963414|963415|963416|963417|963418|963419|963420|963421|963422|963423|963424|963425|963426|963427|963428|963429|963430|963431|963432|963433|963434|964704|977317|977318|977319", + "upstreamId": "24936|24937|24938|24939|24940|24941|24942|24943|24944|24945|24946|24947|24948|24949|24950|24959|24960|96865|104699|181395|192431|213666|265159|339211|339226|348750|348755|348757|352861|352864|418830|431819|431821|513165|551593|551595|551597|551599|551600|611982|611983|614094|792434|792457|792458|792459|800629|800631|800639|801477|802234|816012|856981|856982|856984|856985|856986|856987|856988|856989|856990|856991|856992|856993|856994|856995|856996|856997|856998|856999|857000|857001|857003|857004|857005|857006|857007|857008|857009|857010|857011|857012|857013|857014|857015|857016|857017|857018|857019|857021|857022|857023|857024|857025|857026|857027|857028|857029|857030|857031|857032|857033|857034|857035|857036|857037|857038|857061|860850|860857|920014|920015|920016|920450|920606|963400|963401|963402|963403|963404|963405|963406|963407|963408|963409|963410|963411|963412|963413|963414|963415|963416|963417|963418|963419|963420|963421|963422|963423|963424|963425|963426|963427|963428|963429|963430|963431|963432|963433|963434|964704|977317|977318|977319", "text": "Retinitis pigmentosa 15" }, { - "baseId": "24949|24950|24953|24956|24957|104677|213666", + "upstreamId": "24949|24950|24953|24956|24957|104677|213666", "text": "Cone-rod dystrophy, X-linked 1" }, { - "baseId": "24951", + "upstreamId": "24951", "text": "Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness" }, { - "baseId": "24952|213666", + "upstreamId": "24952|213666", "text": "Macular degeneration, X-linked atrophic" }, { - "baseId": "24954|24955|24958", + "upstreamId": "24954|24955|24958", "text": "Retinitis pigmentosa, X-linked, and sinorespiratory infections, with deafness" }, { - "baseId": "24961|38947|38948|430634|550375|580755|614102|792115|903701|903702|903703|903704|903705|964916", + "upstreamId": "24961|38947|38948|430634|550375|580755|614102|792115|903701|903702|903703|903704|903705|964916", "text": "Syndromic mental retardation, Nascimento type, X-linked" }, { - "baseId": "24962|24963|24964|24965|24966|257876|257880|339534|339538|339539|339541|349016|349017|349020|349021|349022|352423|352424|352427|352428|352429|352430|352431|352432|352441|352444|352445|352944|380120|426491|471723|508649|508697|573998|575448|614096|622498|650199|650200|650201|653543|821798|850258|850259|903177|903178|903179|903180|903181|903182|903183|903184|903185|903186|903187|903188|903189|903190|903191|903192|903193|903194|903195|903196|903197|903198|903199|903200|903201|903202|903203|903482|903656|920064|920065|929809|939677|951877|966352|971229", + "upstreamId": "24962|24963|24964|24965|24966|257876|257880|339534|339538|339539|339541|349016|349017|349020|349021|349022|352423|352424|352427|352428|352429|352430|352431|352432|352441|352444|352445|352944|380120|426491|471723|508649|508697|573998|575448|614096|622498|650199|650200|650201|653543|821798|850258|850259|903177|903178|903179|903180|903181|903182|903183|903184|903185|903186|903187|903188|903189|903190|903191|903192|903193|903194|903195|903196|903197|903198|903199|903200|903201|903202|903203|903482|903656|920064|920065|929809|939677|951877|966352|971229", "text": "Glycogen storage disease IXd" }, { - "baseId": "24967|24968|24969|24970|24971|24972|34175|99985|176313|338683|348278|348281|351934|351935|351938|351939|351942|351943|352709|352710|352711|439510|689320|792106|798778|902688|902689|902690|902691|902692|902693|902694|902695|902696", + "upstreamId": "24967|24968|24969|24970|24971|24972|34175|99985|176313|338683|348278|348281|351934|351935|351938|351939|351942|351943|352709|352710|352711|439510|689320|792106|798778|902688|902689|902690|902691|902692|902693|902694|902695|902696", "text": "Phosphoribosylpyrophosphate synthetase superactivity" }, { - "baseId": "24973|24974|106633|150246|150247|224828", + "upstreamId": "24973|24974|106633|150246|150247|224828", "text": "Charcot-Marie-Tooth disease, X-linked recessive, type 5" }, { - "baseId": "24974|25470|25471|25472|25474|25476|25477|25480|25481|25489|33933|33934|33936|33938|33939|34175|99985|140023|140025|140026|140027|140028|140029|165478|165480|167382|172155|176313|186290|186291|192187|211999|212000|212001|213497|213498|213499|213500|213501|213502|213890|213891|213892|213893|213894|222886|222887|231240|232146|232157|232161|243728|243739|243822|244166|245177|245178|245179|245180|245182|245184|245185|245187|245188|245189|338837|351935|352058|352942|360628|361105|377677|378903|379916|380117|404289|404290|404292|404296|404304|404306|404309|404439|404484|404594|404595|411470|411471|411472|411473|422511|433590|438582|442441|442442|442443|442446|442447|442450|442453|442454|442455|470975|470976|470989|470992|470996|470998|471000|471001|471256|471693|471708|471721|472031|472053|472198|472199|472200|472201|472202|507839|508250|508492|512743|534492|534507|534509|534600|534929|534951|534952|534953|534954|534956|534994|535064|535067|535069|535192|535193|535194|535195|537587|572564|572565|572569|572570|572572|572574|572576|572580|573989|573997|574881|574883|574885|575282|575325|575444|575445|575446|577977|585859|625455|625457|625474|625484|625488|625498|625499|625500|625501|625522|625531|625541|625542|625584|625598|625611|625648|625654|625681|625685|625704|649625|649669|649670|649671|649672|649673|649674|649675|649676|649677|649678|649679|649680|650193|650194|650195|650196|650197|653679|653735|653773|654959|656797|684944|685031|685032|689320|689321|689335|689550|690250|694766|694767|694768|717644|758294|760818|774195|774196|793893|800412|849543|849544|849603|849604|849605|849606|849607|849608|849609|849610|849611|849612|850241|850242|850243|850244|850245|850246|850247|850248|850249|850250|850251|850252|850253|850254|850255|850256|850257|902774|905514|929561|929562|929563|929802|929803|929804|929805|929806|929807|929808|939395|939423|939424|939425|939426|939672|939673|939674|939675|951590|951591|951592|951876|959163|959164|959165|959342|959343|959344", + "upstreamId": "24974|25470|25471|25472|25474|25476|25477|25480|25481|25489|33933|33934|33936|33938|33939|34175|99985|140023|140025|140026|140027|140028|140029|165478|165480|167382|172155|176313|186290|186291|192187|211999|212000|212001|213497|213498|213499|213500|213501|213502|213890|213891|213892|213893|213894|222886|222887|231240|232146|232157|232161|243728|243739|243822|244166|245177|245178|245179|245180|245182|245184|245185|245187|245188|245189|338837|351935|352058|352942|360628|361105|377677|378903|379916|380117|404289|404290|404292|404296|404304|404306|404309|404439|404484|404594|404595|411470|411471|411472|411473|422511|433590|438582|442441|442442|442443|442446|442447|442450|442453|442454|442455|470975|470976|470989|470992|470996|470998|471000|471001|471256|471693|471708|471721|472031|472053|472198|472199|472200|472201|472202|507839|508250|508492|512743|534492|534507|534509|534600|534929|534951|534952|534953|534954|534956|534994|535064|535067|535069|535192|535193|535194|535195|537587|572564|572565|572569|572570|572572|572574|572576|572580|573989|573997|574881|574883|574885|575282|575325|575444|575445|575446|577977|585859|625455|625457|625474|625484|625488|625498|625499|625500|625501|625522|625531|625541|625542|625584|625598|625611|625648|625654|625681|625685|625704|649625|649669|649670|649671|649672|649673|649674|649675|649676|649677|649678|649679|649680|650193|650194|650195|650196|650197|653679|653735|653773|654959|656797|684944|685031|685032|689320|689321|689335|689550|690250|694766|694767|694768|717644|758294|760818|774195|774196|793893|800412|849543|849544|849603|849604|849605|849606|849607|849608|849609|849610|849611|849612|850241|850242|850243|850244|850245|850246|850247|850248|850249|850250|850251|850252|850253|850254|850255|850256|850257|902774|905514|929561|929562|929563|929802|929803|929804|929805|929806|929807|929808|939395|939423|939424|939425|939426|939672|939673|939674|939675|951590|951591|951592|951876|959163|959164|959165|959342|959343|959344", "text": "Charcot-Marie-Tooth Neuropathy X" }, { - "baseId": "24975|24976|34173|34175|38944|99985|176313|224827|338683|348278|348281|351934|351935|351938|351939|351942|351943|352709|352710|352711|689320|789136|902688|902689|902690|902691|902692|902693|902694|902695|902696", + "upstreamId": "24975|24976|34173|34175|38944|99985|176313|224827|338683|348278|348281|351934|351935|351938|351939|351942|351943|352709|352710|352711|689320|789136|902688|902689|902690|902691|902692|902693|902694|902695|902696", "text": "Arts syndrome" }, { - "baseId": "24977|24978|24979|24980|34175|99985|150245|150246|176313|224827|338683|348278|348281|351935|351938|351939|351942|352709|352710|352711|689320|902688|902689|902690|902691|902692|902693|902694|902695|902696", + "upstreamId": "24977|24978|24979|24980|34175|99985|150245|150246|176313|224827|338683|348278|348281|351935|351938|351939|351942|352709|352710|352711|689320|902688|902689|902690|902691|902692|902693|902694|902695|902696", "text": "Deafness, X-linked 1" }, { - "baseId": "24981|24982|24983|24985|24986|24987|24988|24989|24990|24991|24992|24993|24994|24995|446789|486498|538518|792510|800322|961795", + "upstreamId": "24981|24982|24983|24985|24986|24987|24988|24989|24990|24991|24992|24993|24994|24995|446789|486498|538518|792510|800322|961795", "text": "Phosphoglycerate kinase 1 deficiency" }, { - "baseId": "24984", + "upstreamId": "24984", "text": "Phosphoglycerate kinase electrophoretic variant PGK II" }, { - "baseId": "24996|24997|24998|24999|25000|25001|25002|25003|25004|25005|49824|426413|471783|539098|961636", + "upstreamId": "24996|24997|24998|24999|25000|25001|25002|25003|25004|25005|49824|426413|471783|539098|961636", "text": "Paroxysmal nocturnal hemoglobinuria 1" }, { - "baseId": "25006|143124|195862|204578|204579|424619|430793|572493|573876|650053|650054|731470|743324|743325|743327|778524", + "upstreamId": "25006|143124|195862|204578|204579|424619|430793|572493|573876|650053|650054|731470|743324|743325|743327|778524", "text": "Brunner syndrome" }, { - "baseId": "25007", + "upstreamId": "25007", "text": "Antisocial behavior, susceptibility to" }, { - "baseId": "25007|361149", + "upstreamId": "25007|361149", "text": "Autism, severe" }, { - "baseId": "25008|25009|25010|25011|38942|99925|134550|181487|181492|208890|244025|438466|612431|792128|792129|961583|961584|961585", + "upstreamId": "25008|25009|25010|25011|38942|99925|134550|181487|181492|208890|244025|438466|612431|792128|792129|961583|961584|961585", "text": "Fragile X syndrome" }, { - "baseId": "25011|612430", + "upstreamId": "25011|612430", "text": "Fragile X tremor/ataxia syndrome" }, { - "baseId": "25011|166439|166440|166441|178175|612430", + "upstreamId": "25011|166439|166440|166441|178175|612430", "text": "Premature ovarian failure 1" }, { - "baseId": "25012|25013|25014|25015|25016|25017|25018|25019|25020|25021|25021|25022|25023|45103|45103|45104|53124|53582|53583|53590|53593|53594|53596|53597|53599|53600|53601|53603|53604|53605|53606|53609|53612|54739|141774|141775|176316|176318|176318|176319|176320|176322|176439|176440|176441|176443|176444|176734|178207|178762|179882|179884|179892|179893|179894|179894|179895|179899|179901|179906|179907|179911|231237|231245|231248|231249|243737|243738|259133|259136|259142|262413|338700|338709|338710|338713|338717|338721|338722|338724|338727|338736|338740|338742|338749|338751|348302|348304|348317|348321|348323|348325|348331|348332|348334|348335|348337|348341|348348|348349|348351|348353|348354|351976|351981|351982|351990|351991|351992|351993|351994|351995|351996|351997|352000|352001|352003|352005|352018|352019|352021|352717|352718|352719|352720|352721|352722|352723|352724|378857|378866|378957|379903|379904|404054|404057|404062|404085|404088|404092|404435|404436|404437|422409|446481|446483|446484|470451|470454|472048|472049|507816|510894|534395|534453|534456|534495|534515|535005|552241|572178|572180|573523|573527|574250|574251|574262|574264|574266|575322|623111|649649|649650|649651|649652|649653|649654|649655|649656|649657|653487|690249|695888|773724|773727|786689|821548|821549|849577|849578|849579|849580|849581|849582|849583|852459|852462|902707|902708|902709|902710|902711|902712|902713|902714|902715|902716|902717|902718|902719|902720|902721|902722|902723|902724|902725|902726|902727|902728|902729|902730|902731|902732|920434|929549|929550|929551|929552|929553|939410|939411|939412|939413|939414|939415|951580|951581|951582|959156|959157|959158|960358|960359", + "upstreamId": "25012|25013|25014|25015|25016|25017|25018|25019|25020|25021|25021|25022|25023|45103|45103|45104|53124|53582|53583|53590|53593|53594|53596|53597|53599|53600|53601|53603|53604|53605|53606|53609|53612|54739|141774|141775|176316|176318|176318|176319|176320|176322|176439|176440|176441|176443|176444|176734|178207|178762|179882|179884|179892|179893|179894|179894|179895|179899|179901|179906|179907|179911|231237|231245|231248|231249|243737|243738|259133|259136|259142|262413|338700|338709|338710|338713|338717|338721|338722|338724|338727|338736|338740|338742|338749|338751|348302|348304|348317|348321|348323|348325|348331|348332|348334|348335|348337|348341|348348|348349|348351|348353|348354|351976|351981|351982|351990|351991|351992|351993|351994|351995|351996|351997|352000|352001|352003|352005|352018|352019|352021|352717|352718|352719|352720|352721|352722|352723|352724|378857|378866|378957|379903|379904|404054|404057|404062|404085|404088|404092|404435|404436|404437|422409|446481|446483|446484|470451|470454|472048|472049|507816|510894|534395|534453|534456|534495|534515|535005|552241|572178|572180|573523|573527|574250|574251|574262|574264|574266|575322|623111|649649|649650|649651|649652|649653|649654|649655|649656|649657|653487|690249|695888|773724|773727|786689|821548|821549|849577|849578|849579|849580|849581|849582|849583|852459|852462|902707|902708|902709|902710|902711|902712|902713|902714|902715|902716|902717|902718|902719|902720|902721|902722|902723|902724|902725|902726|902727|902728|902729|902730|902731|902732|920434|929549|929550|929551|929552|929553|939410|939411|939412|939413|939414|939415|951580|951581|951582|959156|959157|959158|960358|960359", "text": "Danon disease" }, { - "baseId": "25024|25025|25026|25029|25030|25032|25034|25040|38941|195889|208929|227923|263869|411165|426418|553161|677467|792151|792152|792153|792154|792155|792156|816043|964901|970135|976680", + "upstreamId": "25024|25025|25026|25029|25030|25032|25034|25040|38941|195889|208929|227923|263869|411165|426418|553161|677467|792151|792152|792153|792154|792155|792156|816043|964901|970135|976680", "text": "X-linked hydrocephalus syndrome" }, { - "baseId": "25027|25028|25031|25032|25033|25034|538504|677467|969591|971188|976680|984267", + "upstreamId": "25027|25028|25031|25032|25033|25034|538504|677467|969591|971188|976680|984267", "text": "MASA syndrome" }, { - "baseId": "25029|170086|170088|208928|208929|430694", + "upstreamId": "25029|170086|170088|208928|208929|430694", "text": "Hydrocephalus due to aqueductal stenosis" }, { - "baseId": "25032|26446|70633|169564|421861|553412|578035|622834|964259|966700|966709|966710|966711|966720|966726|966727|966728|966729|966730|966731|966732|966736|976826", + "upstreamId": "25032|26446|70633|169564|421861|553412|578035|622834|964259|966700|966709|966710|966711|966720|966726|966727|966728|966729|966730|966731|966732|966736|976826", "text": "Hydrops fetalis" }, { - "baseId": "25035|25037|25038", + "upstreamId": "25035|25037|25038", "text": "Hydrocephalus, X-linked, with hirschsprung disease" }, { - "baseId": "25039", + "upstreamId": "25039", "text": "Hydrocephalus, X-linked, with congenital idiopathic intestinal pseudoobstruction" }, { - "baseId": "25040|208929|432227|677467|976680", + "upstreamId": "25040|208929|432227|677467|976680", "text": "Corpus callosum, partial agenesis of, X-linked" }, { - "baseId": "25041|25042|25043|25044|25045|25046|25047|25048|25049|25050|25051|25052|25053|25054|94235|150305|181584|226096|226097|227424|260344|362185|378676|380293|380294|417445|424680|430951|432348|471204|471776|471782|471784|472020|482267|508265|508443|508670|535108|550801|612201|653482|653796|678083|679937|679938|694953|694958|694960|694969|821801|821802|964638|964639", + "upstreamId": "25041|25042|25043|25044|25045|25046|25047|25048|25049|25050|25051|25052|25053|25054|94235|150305|181584|226096|226097|227424|260344|362185|378676|380293|380294|417445|424680|430951|432348|471204|471776|471782|471784|472020|482267|508265|508443|508670|535108|550801|612201|653482|653796|678083|679937|679938|694953|694958|694960|694969|821801|821802|964638|964639", "text": "Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)" }, { - "baseId": "25055|25056|25057|25058|25059|25060|25061|25062|25063|25064|25065|25067|45047|45048|45049|45050|45051|45052|227109|227110|227110|227111|244011|260341|264921|339520|349013|352389|352390|352409|352937|352938|352939|360655|379370|379505|411458|446742|470931|470934|470940|471671|471672|471963|471964|472030|472189|495906|534940|534946|535057|535189|535190|574877|574879|575442|575443|610408|613425|621696|621697|650166|650167|650168|650169|650170|650171|650172|653470|729694|731485|743454|743455|758630|758631|758632|774184|774186|774187|774188|774189|786893|786894|786895|786897|786898|786899|788377|792494|806254|822234|850225|850226|850227|850228|850229|903169|929797|929798|939662|939663|939664|939665|939666|941315|951867|951868|951869|951870|951871|959334|959335|959336|959337|960989|969202|980110|980492", + "upstreamId": "25055|25056|25057|25058|25059|25060|25061|25062|25063|25064|25065|25067|45047|45048|45049|45050|45051|45052|227109|227110|227110|227111|244011|260341|264921|339520|349013|352389|352390|352409|352937|352938|352939|360655|379370|379505|411458|446742|470931|470934|470940|471671|471672|471963|471964|472030|472189|495906|534940|534946|535057|535189|535190|574877|574879|575442|575443|610408|613425|621696|621697|650166|650167|650168|650169|650170|650171|650172|653470|729694|731485|743454|743455|758630|758631|758632|774184|774186|774187|774188|774189|786893|786894|786895|786897|786898|786899|788377|792494|806254|822234|850225|850226|850227|850228|850229|903169|929797|929798|939662|939663|939664|939665|939666|941315|951867|951868|951869|951870|951871|959334|959335|959336|959337|960989|969202|980110|980492", "text": "X-linked severe combined immunodeficiency" }, { - "baseId": "25062|25066|227110|227110|227111|379505|411458|980492", + "upstreamId": "25062|25066|227110|227110|227111|379505|411458|980492", "text": "Combined immunodeficiency, X-linked" }, { - "baseId": "25068|25069|25070|25077|25080|25081|25085|25086|25098|25099|25103|25112|25113|25114|25115|25118|25120|25123|38940|38940|177770|266922|534373|534530|574292|649709|649710|649711|653299|653438|653634|821558|849663|849664|851938|853027|951616", + "upstreamId": "25068|25069|25070|25077|25080|25081|25085|25086|25098|25099|25103|25112|25113|25114|25115|25118|25120|25123|38940|38940|177770|266922|534373|534530|574292|649709|649710|649711|653299|653438|653634|821558|849663|849664|851938|853027|951616", "text": "Partial hypoxanthine-guanine phosphoribosyltransferase deficiency" }, { - "baseId": "25068", + "upstreamId": "25068", "text": "HPRT ANN ARBOR" }, { - "baseId": "25069", + "upstreamId": "25069", "text": "HPRT ARLINGTON" }, { - "baseId": "25070", + "upstreamId": "25070", "text": "HPRT ASHVILLE" }, { - "baseId": "25071|25072|25073|25074|25075|25076|25078|25079|25082|25083|25084|25085|25085|25086|25086|25087|25088|25089|25090|25091|25092|25093|25094|25095|25096|25097|25099|25099|25101|25102|25104|25105|25106|25107|25108|25109|25110|25111|25116|25117|25119|25121|25122|38940|177770|177770|192197|266922|424675|534373|534530|551342|574292|649709|649710|649711|653299|653438|653634|792123|821558|849663|849664|851938|853027|951616", + "upstreamId": "25071|25072|25073|25074|25075|25076|25078|25079|25082|25083|25084|25085|25085|25086|25086|25087|25088|25089|25090|25091|25092|25093|25094|25095|25096|25097|25099|25099|25101|25102|25104|25105|25106|25107|25108|25109|25110|25111|25116|25117|25119|25121|25122|38940|177770|177770|192197|266922|424675|534373|534530|551342|574292|649709|649710|649711|653299|653438|653634|792123|821558|849663|849664|851938|853027|951616", "text": "Lesch-Nyhan syndrome" }, { - "baseId": "25071", + "upstreamId": "25071", "text": "HPRT CHICAGO" }, { - "baseId": "25072", + "upstreamId": "25072", "text": "HPRT CONNERSVILLE" }, { - "baseId": "25073", + "upstreamId": "25073", "text": "HPRT DETROIT" }, { - "baseId": "25074", + "upstreamId": "25074", "text": "HPRT EVANSVILLE" }, { - "baseId": "25075", + "upstreamId": "25075", "text": "HPRT FLINT" }, { - "baseId": "25077", + "upstreamId": "25077", "text": "HPRT LONDON" }, { - "baseId": "25078", + "upstreamId": "25078", "text": "HPRT MICHIGAN" }, { - "baseId": "25079", + "upstreamId": "25079", "text": "HPRT MIDLAND" }, { - "baseId": "25080", + "upstreamId": "25080", "text": "HPRT MILWAUKEE" }, { - "baseId": "25081", + "upstreamId": "25081", "text": "HPRT MUNICH" }, { - "baseId": "25082", + "upstreamId": "25082", "text": "HPRT NEW BRITON" }, { - "baseId": "25083", + "upstreamId": "25083", "text": "HPRT NEW HAVEN" }, { - "baseId": "25084", + "upstreamId": "25084", "text": "HPRT YALE" }, { - "baseId": "25098", + "upstreamId": "25098", "text": "HPRT TORONTO" }, { - "baseId": "25099", + "upstreamId": "25099", "text": "HPRT FUJIMI" }, { - "baseId": "25100|38940", + "upstreamId": "25100|38940", "text": "Lesch-nyhan syndrome, neurologic variant" }, { - "baseId": "25100", + "upstreamId": "25100", "text": "HPRT MONTREAL" }, { - "baseId": "25113", + "upstreamId": "25113", "text": "HPRT URANGAN" }, { - "baseId": "25114", + "upstreamId": "25114", "text": "HPRT TOOWONG" }, { - "baseId": "25115", + "upstreamId": "25115", "text": "HPRT SWAN" }, { - "baseId": "25116", + "upstreamId": "25116", "text": "HPRT CHERMSIDE" }, { - "baseId": "25117", + "upstreamId": "25117", "text": "HPRT COORPAROO" }, { - "baseId": "25118", + "upstreamId": "25118", "text": "HPRT EDINBURGH" }, { - "baseId": "25119", + "upstreamId": "25119", "text": "HPRT TOKYO" }, { - "baseId": "25120", + "upstreamId": "25120", "text": "HPRT MOOSE JAW" }, { - "baseId": "25121", + "upstreamId": "25121", "text": "HPRT PARIS" }, { - "baseId": 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+ "upstreamId": "25124|25125|25126|25127|25128|25129|25130|25131|25132|25133|25134|25135|25136|25137|25138|25139|25140|25141|25142|25144|25145|25146|25147|25148|25149|25150|25151|25152|25153|25154|25155|25156|25157|25158|25160|25161|25162|25163|25164|25165|25166|25167|25168|25169|25170|25171|25172|25173|25174|25175|25176|25177|25178|25179|25180|25181|25182|25183|25184|25185|25186|25187|25188|25189|25190|25191|25192|25193|25194|25195|25196|25197|25198|25199|25200|25201|25202|25203|25204|25205|25206|25207|25208|25209|25210|25211|25212|25213|25214|25215|25216|25217|25218|25219|25220|25221|25222|25223|25224|25225|25226|25227|25228|25229|25230|25231|25232|25233|25234|25235|25236|25237|25238|25239|25240|25241|25242|25243|25244|25245|25246|25247|25248|25249|25250|25251|25252|25253|25254|25255|25256|25257|25258|25259|25260|25261|25262|25263|25264|25265|25266|25267|25268|25269|25270|25271|25272|25273|25274|25275|25276|25277|25278|25279|25280|25281|25282|25283|25284|25285|25286|25287|25288|25289|25290|25291|25292|25293|25294|25295|25296|25297|25298|25299|25300|25301|25302|25303|25304|25305|25306|25307|25308|25309|25310|25311|25312|25313|25314|25315|25316|25317|25318|25319|25320|25321|25322|25323|25324|25325|25326|25327|25328|25329|25330|25331|25332|25333|25334|25335|25336|25337|25338|25339|25340|25341|25342|25343|25344|25345|25346|25347|25348|25349|25350|25351|25352|25353|25354|25355|25356|25357|25358|25359|25360|25361|25362|25363|25364|25365|25366|25367|25368|25369|25370|25371|25372|25373|25374|25375|25376|25377|25378|25379|25380|25381|25382|25383|25384|25385|25386|25387|25388|25389|25390|25391|25392|25612|25624|25641|25646|25650|25652|49420|49421|49422|49423|93036|213664|227420|257788|260943|339078|339079|339081|339082|339084|339085|348615|348617|348625|348627|352165|352166|352167|352168|352169|352803|352804|352805|352806|352807|352808|353915|353916|389210|433316|433317|433321|433322|433324|438478|481379|583136|610215|610226|610234|615663|615665|615667|615668|615669|615670|615672|615673|615674|615682|615699|615756|615757|615758|615759|615851|654965|689446|689448|788955|792174|792175|792176|792177|792178|792179|792180|792181|792182|800268|800269|800270|800271|800272|800273|800274|800275|800276|800277|800278|800279|800280|800281|800282|800283|800284|800285|800286|800287|800288|800289|800290|800291|800292|800293|800294|800295|800296|800297|800298|800299|800300|800301|800302|801223|860815|861047|902903|902904|902905|902906|902907|902908|902909|902910|902911|902912|902913|902914|902915|902916|902917|902918|902919|902920|902921|902922|902923|902924|902925|902926|902927|902928|902929|902930|902931|902932|902933|902934|918476|919994|962090|962091|962092|962093|962094|962095|962096|962097|962098|962099|962100|962101|962102|962103|962104|962105|962106|962109|962110|962111|967240|982302|982303|982304|982305|982306|982307|982308|982309|982310|982311|982312|982313|982314|982315|982316|982317|982318|982319|982320|982321|982322|982323|982324|982325|982326|982327|982328|982329|982330|982331|982332|982333|982334", "text": "Hereditary factor VIII deficiency disease" }, { - "baseId": 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+ "upstreamId": "25137|25150|25165|25216|25235|25256|25261|25271|25275|25284|25285|25292|25320|25354|25358|25366|25371|25603|25604|25605|25606|25607|25608|25609|25610|25611|25611|25612|25613|25614|25615|25616|25617|25618|25618|25619|25620|25621|25622|25623|25624|25625|25626|25626|25627|25628|25629|25631|25632|25634|25635|25636|25637|25638|25639|25639|25640|25641|25641|25642|25643|25644|25645|25646|25646|25647|25648|25649|25650|25651|25652|25653|25654|25654|25655|25656|25657|25658|25659|25660|25661|25662|25663|25664|25665|25666|25667|25668|25669|25670|25671|25672|25673|25674|25675|25676|25677|25678|25679|25680|25680|25681|25682|25686|25687|25688|25689|25690|25691|25693|25694|25695|25696|25697|25699|25701|25702|25703|25704|25705|25706|25707|97615|97615|213664|227419|227419|272487|272487|338968|338968|338973|338973|338978|338978|338980|338982|348532|348532|348533|348533|348544|348544|348545|348546|348547|348550|352093|352093|352094|352095|352777|352778|362218|362219|362220|433314|471322|471759|534874|573610|575339|610215|610226|615676|615677|615679|615681|615682|615683|615684|615685|615686|615687|615688|615690|615691|615692|615693|615694|615695|615696|615697|615698|615699|615700|615701|615702|615703|615704|615705|615706|615707|615708|615709|615710|615711|615712|615713|615762|615858|615859|649734|649735|653304|653623|653690|684952|684953|684955|684956|684957|684957|685484|689350|689351|689351|689353|689354|689356|689356|689357|694795|773781|773782|773783|786710|786712|792126|800214|800220|801219|801220|821564|849692|849693|849694|849695|852471|902830|902831|902832|902833|902834|939457|951629|962083|962084|962085|962086|962087|962088|962089|962108|980084|980085|980086|980087", "text": "Hereditary factor IX deficiency disease" }, { - "baseId": "25143|25159", + "upstreamId": "25143|25159", "text": "FACTOR VIII POLYMORPHISM" }, { - "baseId": "25150", + "upstreamId": "25150", "text": "FACTOR VIII (OKAYAMA)" }, { - "baseId": "25153", + "upstreamId": "25153", "text": "FACTOR VIII (EAST HARTFORD)" }, { - "baseId": "25393|25394|176763|178250|178251|178254|190850|231306|231307|231342|231343|472233|472235|535216|535217|535219|535220|535221|535222|575464|575467|575469|575470|575471|575472|575475|623389|650287|650288|650289|650290|650291|650292|650293|650294|650295|650296|650297|650298|650299|650300|650301|650302|650303|717883|729745|729746|729747|743507|761007|774281|776976|780238|850350|850351|850352|850353|850354|850355|850356|850357|850358|850359|853066|853067|929842|929843|929844|929845|929846|939704|939705|939706|939707|939708|939709|951915|951916|951917|951918|951919|951920|959380|959381|959382|960992", + "upstreamId": "25393|25394|176763|178250|178251|178254|190850|231306|231307|231342|231343|472233|472235|535216|535217|535219|535220|535221|535222|575464|575467|575469|575470|575471|575472|575475|623389|650287|650288|650289|650290|650291|650292|650293|650294|650295|650296|650297|650298|650299|650300|650301|650302|650303|717883|729745|729746|729747|743507|761007|774281|776976|780238|850350|850351|850352|850353|850354|850355|850356|850357|850358|850359|853066|853067|929842|929843|929844|929845|929846|939704|939705|939706|939707|939708|939709|951915|951916|951917|951918|951919|951920|959380|959381|959382|960992", "text": "Surfactant metabolism dysfunction, pulmonary, 4" }, { - "baseId": "25395|25396|25397|25398|132679|195912|215613|225821|225850|377731|415737|424674|552242|552243|552244|626290|788948|792118|971175", + "upstreamId": "25395|25396|25397|25398|132679|195912|215613|225821|225850|377731|415737|424674|552242|552243|552244|626290|788948|792118|971175", "text": "Mental retardation, X-linked, syndromic, wu type" }, { - "baseId": "25399", + "upstreamId": "25399", "text": "G6PD A+" }, { - "baseId": "25399|25399|25399|25400|25400|25402|25402|25403|25406|25406|25407|25407|25409|25410|25411|25411|25419|25420|25421|25422|25425|25425|25427|25428|25428|25429|25430|25432|25433|25435|25436|25437|25438|25439|25440|25441|25442|25443|25444|25445|25446|25449|25450|25451|25453|25455|25456|25458|25461|26571|26572|26573|26573|26574|26575|99398|99400|99401|99404|190992|352163|352802|425278|430790|471838|472107|535115|572365|649893|649894|653781|694844|694845|729516|729517|773925|780232|786758|792172|792173|800262|849841|849842|849843|929633|951688|959209", + "upstreamId": "25399|25399|25399|25400|25400|25402|25402|25403|25406|25406|25407|25407|25409|25410|25411|25411|25419|25420|25421|25422|25425|25425|25427|25428|25428|25429|25430|25432|25433|25435|25436|25437|25438|25439|25440|25441|25442|25443|25444|25445|25446|25449|25450|25451|25453|25455|25456|25458|25461|26571|26572|26573|26573|26574|26575|99398|99400|99401|99404|190992|352163|352802|425278|430790|471838|472107|535115|572365|649893|649894|653781|694844|694845|729516|729517|773925|780232|786758|792172|792173|800262|849841|849842|849843|929633|951688|959209", "text": "Anemia, nonspherocytic hemolytic, due to G6PD deficiency" }, { - "baseId": "25399|25399|25400|25400|25401|25404|25405|25407|25411|25413|25419|25425|25426|25427|25428|25434|25461|99394|99398|99399|99401|99404|190992|339060|339062|339069|339073|352161|352162|352163|352798|352799|352800|352801|352802|786758|902892|902893|902894|902895|902896|902897|902898|902899|902900|902901|902902|903463|903464|903465|903466", + "upstreamId": "25399|25399|25400|25400|25401|25404|25405|25407|25411|25413|25419|25425|25426|25427|25428|25434|25461|99394|99398|99399|99401|99404|190992|339060|339062|339069|339073|352161|352162|352163|352798|352799|352800|352801|352802|786758|902892|902893|902894|902895|902896|902897|902898|902899|902900|902901|902902|903463|903464|903465|903466", "text": "Glucose 6 phosphate dehydrogenase deficiency" }, { - "baseId": "25399|94283|94284|94285|205806|424966|614100|792114|964897", + "upstreamId": "25399|94283|94284|94285|205806|424966|614100|792114|964897", "text": "Bone mineral density quantitative trait locus 18" }, { - "baseId": "25400", + "upstreamId": "25400", "text": "G6PD ASAHI" }, { - "baseId": "25400", + "upstreamId": "25400", "text": "chlorproguanil and dapsone response - Toxicity/ADR" }, { - "baseId": "25400|94337|204007", + "upstreamId": "25400|94337|204007", "text": "Parkinsonism with spasticity, X-linked" }, { - "baseId": "25402", + "upstreamId": "25402", "text": "G6PD CHATHAM" }, { - "baseId": "25403", + "upstreamId": "25403", "text": "G6PD ILESHA" }, { - "baseId": "25406", + "upstreamId": "25406", "text": "G6PD MAHIDOL" }, { - "baseId": "25407", + "upstreamId": "25407", "text": "G6PD MEDITERRANEAN" }, { - "baseId": "25407", + "upstreamId": "25407", "text": "G6PD SASSARI" }, { - "baseId": "25407", + "upstreamId": "25407", "text": "G6PD CAGLIARI" }, { - "baseId": "25407|26606", + "upstreamId": "25407|26606", "text": "Angioedema induced by ACE inhibitors, susceptibility to" }, { - "baseId": "25407|25425", + "upstreamId": "25407|25425", "text": "G6PD deficient hemolytic anemia" }, { - "baseId": "25407", + "upstreamId": "25407", "text": "Hemolytic anemia, G6PD deficient (favism)" }, { - "baseId": "25408", + "upstreamId": "25408", "text": "G6PD METAPONTO" }, { - "baseId": "25409", + "upstreamId": "25409", "text": "G6PD PORTICI" }, { - "baseId": "25409", + "upstreamId": "25409", "text": "G6PD NASHVILLE" }, { - "baseId": "25409", + "upstreamId": "25409", "text": "G6PD ANAHEIM" }, { - "baseId": "25410", + "upstreamId": "25410", "text": "G6PD SANTIAGO DE CUBA" }, { - "baseId": "25411", + "upstreamId": "25411", "text": "G6PD SEATTLE-LIKE" }, { - "baseId": "25411", + "upstreamId": "25411", "text": "G6PD MODENA" }, { - "baseId": "25412", + "upstreamId": "25412", "text": "G6PD HARILAOU" }, { - "baseId": "25414", + "upstreamId": "25414", "text": "G6PD IOWA" }, { - "baseId": "25414", + "upstreamId": "25414", "text": "G6PD IOWA CITY" }, { - "baseId": "25414", + "upstreamId": "25414", "text": "G6PD SPRINGFIELD" }, { - "baseId": "25414", + "upstreamId": "25414", "text": "G6PD WALTER REED" }, { - "baseId": "25415", + "upstreamId": "25415", "text": "G6PD BEVERLY HILLS" }, { - "baseId": "25416", + "upstreamId": "25416", "text": "G6PD TOMAH" }, { - "baseId": "25417", + "upstreamId": "25417", "text": "G6PD RIVERSIDE" }, { - "baseId": "25418", + "upstreamId": "25418", "text": "G6PD ANDALUS" }, { - "baseId": "25419", + "upstreamId": "25419", "text": "G6PD CANTON" }, { - "baseId": "25419", + "upstreamId": "25419", "text": "G6PD GIFU" }, { - "baseId": "25419", + "upstreamId": "25419", "text": "G6PD AGRIGENTO" }, { - "baseId": "25419", + "upstreamId": "25419", "text": "G6PD TAIWAN-HAKKA" }, { - "baseId": "25420", + "upstreamId": "25420", "text": "G6PD PUERTO LIMON" }, { - "baseId": "25421", + "upstreamId": "25421", "text": "G6PD MALAGA" }, { - "baseId": "25422", + "upstreamId": "25422", "text": "G6PD GASTONIA" }, { - "baseId": "25422", + "upstreamId": "25422", "text": "G6PD MARION" }, { - "baseId": "25422", + "upstreamId": "25422", "text": "G6PD MINNESOTA" }, { - "baseId": "25424", + "upstreamId": "25424", "text": "G6PD IERAPETRA" }, { - "baseId": "25425", + "upstreamId": "25425", "text": "G6PD VIANGCHAN" }, { - "baseId": "25425", + "upstreamId": "25425", "text": "G6PD JAMMU" }, { - "baseId": "25428", + "upstreamId": "25428", "text": "G6PD KAIPING" }, { - "baseId": "25428", + "upstreamId": "25428", "text": "G6PD ANANT" }, { - "baseId": "25428", + "upstreamId": "25428", "text": "G6PD DHON" }, { - "baseId": "25428", + "upstreamId": "25428", "text": "G6PD PETRICH-LIKE" }, { - "baseId": "25428", + "upstreamId": "25428", "text": "G6PD SAPPORO-LIKE" }, { - "baseId": "25429", + "upstreamId": "25429", "text": "G6PD LOMA LINDA" }, { - "baseId": "25430", + "upstreamId": "25430", "text": "G6PD COIMBRA" }, { - "baseId": "25432", + "upstreamId": "25432", "text": "G6PD TAIWAN-HAKKA 2" }, { - "baseId": "25433", + "upstreamId": "25433", "text": "G6PD SANTIAGO" }, { - "baseId": "25434", + "upstreamId": "25434", "text": "G6PD MEXICO CITY" }, { - "baseId": "25435", + "upstreamId": "25435", "text": "G6PD GUADALAJARA" }, { - "baseId": "25436", + "upstreamId": "25436", "text": "G6PD ALHAMBRA" }, { - "baseId": "25437", + "upstreamId": "25437", "text": "G6PD JAPAN" }, { - "baseId": "25438", + "upstreamId": "25438", "text": "G6PD PAWNEE" }, { - "baseId": "25439", + "upstreamId": "25439", "text": "G6PD SUNDERLAND" }, { - "baseId": "25440", + "upstreamId": "25440", "text": "G6PD KERALA-KALYAN" }, { - "baseId": "25440", + "upstreamId": "25440", "text": "G6PD KERALA" }, { - "baseId": "25440", + "upstreamId": "25440", "text": "G6PD KALYAN" }, { - "baseId": "25441", + "upstreamId": "25441", "text": "G6PD AURES" }, { - "baseId": "25442", + "upstreamId": "25442", "text": "G6PD GAOHE" }, { - "baseId": "25443", + "upstreamId": "25443", "text": "G6PD QUING YUAN" }, { - "baseId": "25444", + "upstreamId": "25444", "text": "G6PD MAHIDOL-LIKE" }, { - "baseId": "25445", + "upstreamId": "25445", "text": "G6PD ORISSA" }, { - "baseId": "25446", + "upstreamId": "25446", "text": "G6PD NANKANG" }, { - "baseId": "25448", + "upstreamId": "25448", "text": "G6PD NEAPOLIS" }, { - "baseId": "25449", + "upstreamId": "25449", "text": "G6PD SERRES" }, { - "baseId": "25451", + "upstreamId": "25451", "text": "G6PD AVEIRO" }, { - "baseId": "25453", + "upstreamId": "25453", "text": "G6PD REHOVOT" }, { - "baseId": "25454", + "upstreamId": "25454", "text": "G6PD SPLIT" }, { - "baseId": "25455", + "upstreamId": "25455", "text": "G6PD NAMORU" }, { - "baseId": "25456", + "upstreamId": "25456", "text": "G6PD NILGIRI" }, { - "baseId": "25459", + "upstreamId": "25459", "text": "G6PD ZURICH" }, { - "baseId": "25460", + "upstreamId": "25460", "text": "G6PD VARNSDORF" }, { - "baseId": "25461", + "upstreamId": "25461", "text": "G6PD COSENZA" }, { - "baseId": "25462|25466", + "upstreamId": "25462|25466", "text": "Dyserythropoietic anemia with thrombocytopenia" }, { - "baseId": "25462|25463|25464|25466|40607|166050|166051|166053|166054|166055|404581|471606|471610|472161|535011|535177|535178|575425|575426", + "upstreamId": "25462|25463|25464|25466|40607|166050|166051|166053|166054|166055|404581|471606|471610|472161|535011|535177|535178|575425|575426", "text": "GATA-1-related thrombocytopenia with dyserythropoiesis" }, { - "baseId": "25463|25464", + "upstreamId": "25463|25464", "text": "Thrombocytopenia, X-linked, without dyserythropoietic anemia" }, { - "baseId": "25465", + "upstreamId": "25465", "text": "Leukemia, megakaryoblastic, of Down syndrome" }, { - "baseId": "25467|40608|471610", + "upstreamId": "25467|40608|471610", "text": "Thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis" }, { - "baseId": "25468|138312|138319|183028|215048|215049|215050|215051|215052|215053|215054|215055|362916|362992|362993|362994|362995|581224|611996", + "upstreamId": "25468|138312|138319|183028|215048|215049|215050|215051|215052|215053|215054|215055|362916|362992|362993|362994|362995|581224|611996", "text": "Acute megakaryoblastic leukemia" }, { - "baseId": 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"25470|25471|25472|25473|25474|25475|25476|25477|25478|25479|25480|25481|25482|25483|25484|25485|25486|25487|25488|25489|25490|33931|33932|33933|33934|33935|33936|33937|33938|33939|102962|165478|165479|165480|165481|186291|192187|213498|213502|213890|213891|213892|213893|213894|222886|244167|245177|339521|339522|352410|352422|352940|352941|352942|361106|404289|442441|470992|512742|534929|573997|609158|609184|625477|625569|625656|679697|792497|798821|903170|903171|903172|903173|903174|903175|903176|961022|964631", "text": "Charcot-Marie-Tooth Neuropathy X Type 1" }, { - "baseId": 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"text": "Alport syndrome 1, X-linked recessive" }, { - "baseId": 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+ "upstreamId": "25505|32448|32523|32531|189115|190092|215249|227237|250583|250584|250586|250587|250588|250589|250590|250591|250592|250594|250595|250596|250597|250599|250600|250601|250602|250603|250605|250606|250607|250608|250609|250610|250611|250613|250614|250616|250617|250618|250619|250620|250621|250622|250624|250625|250626|250627|250628|250629|250631|250632|250635|250636|250637|250638|250639|250640|250641|250642|250643|250644|250646|250647|250648|250649|250650|250651|250652|250654|272152|284955|284956|284962|284964|284980|284986|284991|284993|284998|285000|285004|285008|285010|285015|285018|285019|285021|285027|285030|285031|285033|285034|285035|285037|285051|285052|285057|285058|285060|285061|285063|285064|285070|285071|285076|285079|285080|285088|285089|285094|285097|285102|285103|285112|285115|285116|285124|285125|285126|285135|285136|285613|285614|285619|285620|285623|285634|285636|285665|285669|285670|285671|285672|285680|285681|285682|285686|285687|285688|285690|285694|285697|285698|285700|285710|285711|285713|285717|285718|285719|285721|285726|285727|285728|285730|285731|285743|285744|285745|285749|285750|285751|285763|285764|285772|285775|287958|287960|287961|287962|287966|287968|287969|287970|287975|287982|287994|287995|287996|287999|288001|288002|288003|288024|288025|288027|288028|288029|288036|288037|288041|288043|288048|288050|288056|288057|288058|288062|288064|288066|288072|288077|288078|288083|288084|288093|288102|288110|288112|288207|288223|288225|288226|288227|288239|288240|288241|288243|288244|288267|288268|288280|288281|288296|288299|288301|288304|288308|288309|288352|288365|288374|288375|288386|288403|288408|288409|288410|288411|288412|288414|288415|288420|288421|288424|288426|288446|288450|288457|288459|288460|288461|288464|288474|288475|288476|288479|288480|288484|288488|288490|288491|405643|405646|424890|440657|440670|440671|440673|440678|443176|443177|443179|443181|486961|490915|491213|491479|493402|493610|496225|496718|499552|499554|499804|499806|499956|536626|541884|541903|541925|541970|542004|542014|542034|553611|553629|576647|578248|584708|584926|586060|590241|622521|622948|654245|654246|654248|654249|654253|654259|654261|655429|658694|658695|697370|697371|719679|719682|719683|733227|733228|733229|733230|733233|733234|733237|733239|743891|743897|743902|747383|747385|747387|759153|762981|762990|762995|762996|762998|763001|763005|763011|763012|763014|774686|774710|774711|774745|774761|781196|781198|781199|781203|781204|781206|781207|781211|781218|781221|787098|787195|792967|795183|804846|818208|818211|821877|825794|825797|825810|883942|883943|883944|883945|883946|883947|883948|883949|883950|883951|883952|883953|883954|883955|883956|883957|883958|883959|883960|883961|883962|883963|883964|883965|883966|883967|883968|883969|883970|883971|883972|883973|883974|883975|883976|883977|883978|883979|883980|883981|883982|883983|883984|883985|883986|883987|883988|883989|883990|883991|883992|883993|883994|883995|883996|883997|883998|883999|884000|884001|884002|884003|884004|884005|884006|884007|884008|884009|884010|884011|884012|884013|884014|884015|884016|884017|884018|884019|884020|884021|884022|884023|884024|884025|884026|884027|884028|884029|884030|884031|884032|884033|884034|884035|884036|884037|884038|884039|884040|884041|884042|884043|884044|884045|884046|884047|884048|884049|884050|884051|884052|884053|884054|884055|884056|887284|887285|887286|887287|887288|887289|887290|887291|887292|887293|887294|887295|887296|887297|887298|887299|887300|887301|887302|887303|887304|887305|918504|918505|918509|918518|918519|918520|977688|977689|977690|977691|977692|977693|977694|977695|977696|977697|977698|977699|977700|977701|977702|977703|977704|977705", "text": "Alport syndrome" }, { - "baseId": "25507|25508|25509|25510|25514|25515|25516|25517|25518|25519|25520|25523|25524|49400|140054|140056|140057|140061|212022|212025|212026|212027|212028|212030|290283|290284|290285|291116|291118|291128|291136|291141|294419|294428|294431|294437|294438|294758|294768|294793|294827|294831|339502|339508|348990|348992|348994|348996|348999|349002|352379|352929|352930|352931|353648|434515|508348|903153|903154|903155|903156|903157|903158|903481", + "upstreamId": "25507|25508|25509|25510|25514|25515|25516|25517|25518|25519|25520|25523|25524|49400|140054|140056|140057|140061|212022|212025|212026|212027|212028|212030|290283|290284|290285|291116|291118|291128|291136|291141|294419|294428|294431|294437|294438|294758|294768|294793|294827|294831|339502|339508|348990|348992|348994|348996|348999|349002|352379|352929|352930|352931|353648|434515|508348|903153|903154|903155|903156|903157|903158|903481", "text": "Anemia, sideroblastic, 1" }, { - "baseId": "25511|25512", + "upstreamId": "25511|25512", "text": "Sideroblastic anemia 1, late-onset" }, { - "baseId": "25513", + "upstreamId": "25513", "text": "Anemia, hereditary sideroblastic 1, pyridoxine refractory" }, { - "baseId": "25521|25522|49400|75248|75249", + "upstreamId": "25521|25522|49400|75248|75249", "text": "Protoporphyria, erythropoietic, X-linked" }, { - "baseId": "25525|25526|25527|25528|25529|25530|25531|25532|25533|25534|25535|25536|25537|25540|98525|98526|98527|98530|192198|193394|195566|196156|222898|222900|222901|222902|222903|222904|222905|222906|222907|222908|222909|222910|222911|222912|222913|222914|222915|222916|222917|222918|222919|222920|222921|223658|223659|223660|223661|223662|223663|223664|223665|223666|223667|269097|271132|378928|413848|431004|431005|470358|470524|471335|471342|472073|513390|534493|534568|534573|534641|574329|574331|575344|580665|580668|580802|580807|580814|580816|580959|586929|613229|621679|621680|621681|625891|625892|625893|625894|625895|625896|625897|625898|625899|649743|649744|649745|653344|653624|653625|653691|689368|689369|694802|694804|706122|706123|706125|706126|706127|717673|717674|729447|729448|729449|743169|743170|743171|743172|758319|758320|758321|773826|773827|773830|773831|776857|778647|778699|792131|792132|800627|805047|821480|849703|849704|849705|849706|849707|849708|853030|857696|857697|929587|929588|929589|929590|939461|951632|959176|959177|959178|959179|965355|980088", + "upstreamId": "25525|25526|25527|25528|25529|25530|25531|25532|25533|25534|25535|25536|25537|25540|98525|98526|98527|98530|192198|193394|195566|196156|222898|222900|222901|222902|222903|222904|222905|222906|222907|222908|222909|222910|222911|222912|222913|222914|222915|222916|222917|222918|222919|222920|222921|223658|223659|223660|223661|223662|223663|223664|223665|223666|223667|269097|271132|378928|413848|431004|431005|470358|470524|471335|471342|472073|513390|534493|534568|534573|534641|574329|574331|575344|580665|580668|580802|580807|580814|580816|580959|586929|613229|621679|621680|621681|625891|625892|625893|625894|625895|625896|625897|625898|625899|649743|649744|649745|653344|653624|653625|653691|689368|689369|694802|694804|706122|706123|706125|706126|706127|717673|717674|729447|729448|729449|743169|743170|743171|743172|758319|758320|758321|773826|773827|773830|773831|776857|778647|778699|792131|792132|800627|805047|821480|849703|849704|849705|849706|849707|849708|853030|857696|857697|929587|929588|929589|929590|939461|951632|959176|959177|959178|959179|965355|980088", "text": "Mucopolysaccharidosis, MPS-II" }, { - "baseId": "25536|25538", + "upstreamId": "25536|25538", "text": "Mucopolysaccharidosis, type II, mild form" }, { - "baseId": "25537|25539", + "upstreamId": "25537|25539", "text": "Mucopolysaccharidosis, type II, severe form" }, { - "baseId": "25542|25544|25546|25547|442545", + "upstreamId": "25542|25544|25546|25547|442545", "text": "Cone monochromatism" }, { - "baseId": "25543", + "upstreamId": "25543", "text": "RED CONE POLYMORPHISM" }, { - "baseId": "25545", + "upstreamId": "25545", "text": "Protan defect" }, { - "baseId": "25547|25548|25549|25551|919984", + "upstreamId": "25547|25548|25549|25551|919984", "text": "Deuteranopia" }, { - "baseId": "25552", + "upstreamId": "25552", "text": "Cone dystrophy 5, X-linked" }, { - "baseId": "25553|25554|25555|25556|25557|25558|25559|25560|25562|38939|104522|171764|904074", + "upstreamId": "25553|25554|25555|25556|25557|25558|25559|25560|25562|38939|104522|171764|904074", "text": "Ocular albinism, type I" }, { - "baseId": "25561|25563|25564|611358|920075", + "upstreamId": "25561|25563|25564|611358|920075", "text": "Nystagmus 6, congenital, X-linked" }, { - "baseId": "25565|33006|38938|99929|133732|191365|217196|265456|426411|614105|792130|920437|963397|971183", + "upstreamId": "25565|33006|38938|99929|133732|191365|217196|265456|426411|614105|792130|920437|963397|971183", "text": "FRAXE" }, { - "baseId": "25566|25567|25568|25569|25570|25571|25572|25573|25574|25577|195873|205027|205339|205340|257794|257797|257798|257800|257801|257803|257804|257805|378058|378078|378089|379165|380013|439241|481444|492427|492524|508130|508133|508501|513163|513392|534696|534769|534775|534785|535123|573764|573768|574442|575285|575377|575378|575379|575380|584146|622490|626294|649913|649914|649915|649916|649917|649918|649919|649920|649921|649922|682741|682742|682743|682744|682745|682746|706185|729536|758422|792195|792196|792197|792198|792199|792200|798810|821579|849876|849877|849878|849879|851954|852486|852489|860822|920001|920002|929641|929642|929643|939518|939519|939520|940549|940550|951702|960979|961550|964703", + "upstreamId": "25566|25567|25568|25569|25570|25571|25572|25573|25574|25577|195873|205027|205339|205340|257794|257797|257798|257800|257801|257803|257804|257805|378058|378078|378089|379165|380013|439241|481444|492427|492524|508130|508133|508501|513163|513392|534696|534769|534775|534785|535123|573764|573768|574442|575285|575377|575378|575379|575380|584146|622490|626294|649913|649914|649915|649916|649917|649918|649919|649920|649921|649922|682741|682742|682743|682744|682745|682746|706185|729536|758422|792195|792196|792197|792198|792199|792200|798810|821579|849876|849877|849878|849879|851954|852486|852489|860822|920001|920002|929641|929642|929643|939518|939519|939520|940549|940550|951702|960979|961550|964703", "text": "Glycogen storage disease type IXa1" }, { - "baseId": "25572|25574|25575|25576|25577|25578|25579|25580", + "upstreamId": "25572|25574|25575|25576|25577|25578|25579|25580", "text": "Glycogen storage disease IXa2" }, { - "baseId": "25581|25582|192587|339086|339092|339097|339100|339103|348636|348637|348640|348643|348646|348654|352172|352177|352178|352179|352809|352810|352812|430743|902935|902936|902937|902938|902939|902940|902941|919995|919996", + "upstreamId": "25581|25582|192587|339086|339092|339097|339100|339103|348636|348637|348640|348643|348646|348654|352172|352177|352178|352179|352809|352810|352812|430743|902935|902936|902937|902938|902939|902940|902941|919995|919996", "text": "Mental retardation, X-linked 72" }, { - "baseId": "25583|25584|25585|25586|25587|25588|25589|25590|193605|578350|623367|800318|850066", + "upstreamId": "25583|25584|25585|25586|25587|25588|25589|25590|193605|578350|623367|800318|850066", "text": "Retinitis pigmentosa 2" }, { - "baseId": "25591|25592|25593|25594|25595|25596|185939|185940|185941|185942|613946|613986|613987|614160|626302|920460", + "upstreamId": "25591|25592|25593|25594|25595|25596|185939|185940|185941|185942|613946|613986|613987|614160|626302|920460", "text": "X-linked ichthyosis with steryl-sulfatase deficiency" }, { - "baseId": "25597|25598|25599|25600|25683|25684|25685", + "upstreamId": "25597|25598|25599|25600|25683|25684|25685", "text": "Hemophilia B Leyden" }, { - "baseId": "25601|25602|25680", + "upstreamId": "25601|25602|25680", "text": "FACTOR IX POLYMORPHISM" }, { - "baseId": "25611|25618|25626|25639|25641|25646|25654|25680|25707|97615|227419|272487|338968|338973|338978|348532|348533|348544|352093|471759|534874|573610|575339|649734|649735|653304|653623|653690|684952|684953|684955|684956|684957|685484|689350|689351|689353|689354|689356|689357|773781|773782|773783|786710|786712|816498|821564|849692|849693|849694|849695|852471|939457|951629", + "upstreamId": "25611|25618|25626|25639|25641|25646|25654|25680|25707|97615|227419|272487|338968|338973|338978|348532|348533|348544|352093|471759|534874|573610|575339|649734|649735|653304|653623|653690|684952|684953|684955|684956|684957|685484|689350|689351|689353|689354|689356|689357|773781|773782|773783|786710|786712|816498|821564|849692|849693|849694|849695|852471|939457|951629", "text": "Thrombophilia, X-linked, due to factor IX defect" }, { - "baseId": "25627", + "upstreamId": "25627", "text": "Deep venous thrombosis, protection against" }, { - "baseId": "25630|25633", + "upstreamId": "25630|25633", "text": "Hemophilia b(m)" }, { - "baseId": "25639", + "upstreamId": "25639", "text": "FACTOR IX, DNA POLYMORPHISM" }, { - "baseId": "25692", + "upstreamId": "25692", "text": "Hemophilia B Brandenburg" }, { - "baseId": "25698|25700", + "upstreamId": "25698|25700", "text": "Warfarin sensitivity, x-linked" }, { - "baseId": "25710|25711|25712|25713|25714", + "upstreamId": "25710|25711|25712|25713|25714", "text": "Syndactyly-telecanthus-anogenital and renal malformations syndrome" }, { - "baseId": "25715|25716|25717|102098|213670|227423|265043|361247|362599|362600|362601|362602|362603|362604|362605|362606|362607|362608|362609|362610|362611|362612|362613|362614|362615|379463|411426|512712|538515|552263|608875|615772|622496|678078|792480|798819|800321|816503|850200|858586|964625|964626|971218|971219|971220|971221", + "upstreamId": "25715|25716|25717|102098|213670|227423|265043|361247|362599|362600|362601|362602|362603|362604|362605|362606|362607|362608|362609|362610|362611|362612|362613|362614|362615|379463|411426|512712|538515|552263|608875|615772|622496|678078|792480|798819|800321|816503|850200|858586|964625|964626|971218|971219|971220|971221", "text": "Syndromic X-linked intellectual disability Turner type" }, { - "baseId": "25718|25719|25720|25721|25722|25724|25725|25726|25728|25729|25731|25732|25735|25736|25737|25738|177444|226404|237630|361098|800649", + "upstreamId": "25718|25719|25720|25721|25722|25724|25725|25726|25728|25729|25731|25732|25735|25736|25737|25738|177444|226404|237630|361098|800649", "text": "Atrophia bulborum hereditaria" }, { - "baseId": "25723|25727|25733|25734|513687", + "upstreamId": "25723|25727|25733|25734|513687", "text": "Familial exudative vitreoretinopathy, X-linked" }, { - "baseId": "25730", + "upstreamId": "25730", "text": "Exudative vitreoretinopathy, X-linked" }, { - "baseId": "25739|25740|25741|25742|244003|361152|480818|480819|679815|682677|802236|816511|972737|975661|983863", + "upstreamId": "25739|25740|25741|25742|244003|361152|480818|480819|679815|682677|802236|816511|972737|975661|983863", "text": "Focal dermal hypoplasia" }, { - "baseId": "25743|25744|25745|25746|25747|38934|45731|45732|137226|137240|432372|624063|717839|729670|792486|920049|963239|963240|963241|964073|964074", + "upstreamId": "25743|25744|25745|25746|25747|38934|45731|45732|137226|137240|432372|624063|717839|729670|792486|920049|963239|963240|963241|964073|964074", "text": "Osteopathia striata with cranial sclerosis" }, { - "baseId": "25748|25749|25750|25751|193633|225835|421144|470473|471250|471251|471686|471687|471688|471689|472051|472052|534472|534482|534485|534504|534598|535014|572196|574270|574272|574274|611441|649668|758284|758285|821475|822214|822215|849602|861156|919974|919975|929560|939421|939422|951589|959160|959161|959162|960362", + "upstreamId": "25748|25749|25750|25751|193633|225835|421144|470473|471250|471251|471686|471687|471688|471689|472051|472052|534472|534482|534485|534504|534598|535014|572196|574270|574272|574274|611441|649668|758284|758285|821475|822214|822215|849602|861156|919974|919975|929560|939421|939422|951589|959160|959161|959162|960362", "text": "Mental retardation, X-linked, syndromic, Raymond type" }, { - "baseId": "25752|25753|25754|25755|25756|25757|25758|25759|25761|25762|25763|25764|25765|25766|25767|25768|25769|25769|25770|25771|25772|25773|25774|25775|25776|25777|25778|25779|25780|25781|25782|25783|25784|25785|25786|25787|25788|25789|25791|25792|25793|25794|25795|25797|25798|25799|25800|25801|25804|25805|25806|25807|25807|25808|25809|25810|25813|38452|44944|51619|51621|51622|51623|51624|51625|51626|51627|51628|51629|51630|51634|51635|51636|98447|98450|98469|98472|98474|98477|98478|98482|165573|176805|176806|176808|177041|177172|177304|177748|178194|178194|178269|178286|178294|178306|179863|179865|179867|179868|179870|179872|179881|190221|192190|193387|194799|194800|195214|195560|195561|195562|195563|214012|214013|214014|214015|214016|214017|214018|214019|214020|214021|214022|214023|214024|214025|214026|214027|214028|214029|214030|214031|214032|214033|214034|214035|214036|214037|214038|214039|214040|214041|214042|214043|214044|214045|214046|214047|214048|214049|214050|214051|214052|214053|214054|215608|223790|223792|223795|223802|223804|223819|223822|223829|223834|223839|223842|223845|223862|223885|223886|223889|223894|223896|223898|223900|223927|223932|223935|223936|223938|223939|223944|223945|223952|223955|223998|224000|224036|224049|224054|224055|224083|224087|224089|224096|224099|224102|224112|224114|224119|224122|224123|224124|224135|224143|224147|224163|224164|224578|224579|236819|243726|243727|245172|245173|264797|265210|265915|268722|269807|271086|272545|274105|351933|358691|360625|377660|377668|378802|404055|404423|404424|404463|404465|439341|446453|446454|446455|471217|471218|471220|471225|471668|471670|472044|487981|488021|488025|488028|488029|488068|488069|488070|507744|508242|513676|514788|534430|534433|534463|534466|534984|534985|537031|549816|553425|572155|572157|573516|574245|575315|576191|576192|585239|587645|588605|619046|621661|621662|621663|621664|621665|621666|621667|621668|621669|621670|621671|621672|649616|649617|649618|649619|649620|653373|685475|694760|758203|792103|821542|849521|849522|849523|849524|849525|849526|849527|852957|858448|860761|905969|906113|906114|914974|914975|914976|914977|914978|914979|914980|914981|914982|914983|914984|914985|914986|914987|914988|914989|914990|914991|914992|914993|914994|914995|914996|914997|914998|914999|915000|915001|915002|916114|916694|916696|917335|917337|917338|917339|917340|917341|917342|917343|917344|917345|917346|917348|917351|917352|917353|917354|917571|921498|929531|929532|929533|929534|939389|939390|939391|941283|951562|951563|959148|963115|965870|969199|969200|970124|970127|972612|975850|977362|980204|980205|980206|980207|980398|980399|984009", + "upstreamId": "25752|25753|25754|25755|25756|25757|25758|25759|25761|25762|25763|25764|25765|25766|25767|25768|25769|25769|25770|25771|25772|25773|25774|25775|25776|25777|25778|25779|25780|25781|25782|25783|25784|25785|25786|25787|25788|25789|25791|25792|25793|25794|25795|25797|25798|25799|25800|25801|25804|25805|25806|25807|25807|25808|25809|25810|25813|38452|44944|51619|51621|51622|51623|51624|51625|51626|51627|51628|51629|51630|51634|51635|51636|98447|98450|98469|98472|98474|98477|98478|98482|165573|176805|176806|176808|177041|177172|177304|177748|178194|178194|178269|178286|178294|178306|179863|179865|179867|179868|179870|179872|179881|190221|192190|193387|194799|194800|195214|195560|195561|195562|195563|214012|214013|214014|214015|214016|214017|214018|214019|214020|214021|214022|214023|214024|214025|214026|214027|214028|214029|214030|214031|214032|214033|214034|214035|214036|214037|214038|214039|214040|214041|214042|214043|214044|214045|214046|214047|214048|214049|214050|214051|214052|214053|214054|215608|223790|223792|223795|223802|223804|223819|223822|223829|223834|223839|223842|223845|223862|223885|223886|223889|223894|223896|223898|223900|223927|223932|223935|223936|223938|223939|223944|223945|223952|223955|223998|224000|224036|224049|224054|224055|224083|224087|224089|224096|224099|224102|224112|224114|224119|224122|224123|224124|224135|224143|224147|224163|224164|224578|224579|236819|243726|243727|245172|245173|264797|265210|265915|268722|269807|271086|272545|274105|351933|358691|360625|377660|377668|378802|404055|404423|404424|404463|404465|439341|446453|446454|446455|471217|471218|471220|471225|471668|471670|472044|487981|488021|488025|488028|488029|488068|488069|488070|507744|508242|513676|514788|534430|534433|534463|534466|534984|534985|537031|549816|553425|572155|572157|573516|574245|575315|576191|576192|585239|587645|588605|619046|621661|621662|621663|621664|621665|621666|621667|621668|621669|621670|621671|621672|649616|649617|649618|649619|649620|653373|685475|694760|758203|792103|821542|849521|849522|849523|849524|849525|849526|849527|852957|858448|860761|905969|906113|906114|914974|914975|914976|914977|914978|914979|914980|914981|914982|914983|914984|914985|914986|914987|914988|914989|914990|914991|914992|914993|914994|914995|914996|914997|914998|914999|915000|915001|915002|916114|916694|916696|917335|917337|917338|917339|917340|917341|917342|917343|917344|917345|917346|917348|917351|917352|917353|917354|917571|921498|929531|929532|929533|929534|939389|939390|939391|941283|951562|951563|959148|963115|965870|969199|969200|970124|970127|972612|975850|977362|980204|980205|980206|980207|980398|980399|984009", "text": "Fabry disease" }, { - "baseId": "25754|25756|25760|25802|25803|25807", + "upstreamId": "25754|25756|25760|25802|25803|25807", "text": "Fabry disease, cardiac variant" }, { - "baseId": "25814|25815|101499|101500|135821|143026|143029|195723|196018|196290|203959|203960|203962|203965|203969|203973|203975|203977|208824|268445|377656|378782|404051|404052|404398|404420|470439|470442|471659|471663|472040|472041|534427|534567|534577|573507|575313|575314|580710|580733|583134|649589|649590|684925|776871|792098|821539|849506|849507|849508|903648|929526|929527|939381|939382|939383|959146", + "upstreamId": "25814|25815|101499|101500|135821|143026|143029|195723|196018|196290|203959|203960|203962|203965|203969|203973|203975|203977|208824|268445|377656|378782|404051|404052|404398|404420|470439|470442|471659|471663|472040|472041|534427|534567|534577|573507|575313|575314|580710|580733|583134|649589|649590|684925|776871|792098|821539|849506|849507|849508|903648|929526|929527|939381|939382|939383|959146", "text": "Rolandic epilepsy with mental retardation and speech dyspraxia, X-linked" }, { - "baseId": "25816|25817|25818|25819|25820|150141|384444|430637|430748|917754|961021|976520", + "upstreamId": "25816|25817|25818|25819|25820|150141|384444|430637|430748|917754|961021|976520", "text": "Pettigrew syndrome" }, { - "baseId": "25821|25822|25823|25824|25825|25826|25827|25828|25829|38931|38932|38933|190088|257750|257751|257752|257753|257754|338847|338848|338853|338863|338868|338876|338878|338882|348463|348466|348468|352061|352062|352063|352751|352752|352753|614104|729410|729411|745459|902778|902779|902780|902781|902782|902783|902784|902785|902786|902787|902788|902789|902790|903457|903458|964698", + "upstreamId": "25821|25822|25823|25824|25825|25826|25827|25828|25829|38931|38932|38933|190088|257750|257751|257752|257753|257754|338847|338848|338853|338863|338868|338876|338878|338882|348463|348466|348468|352061|352062|352063|352751|352752|352753|614104|729410|729411|745459|902778|902779|902780|902781|902782|902783|902784|902785|902786|902787|902788|902789|902790|903457|903458|964698", "text": "Infantile nystagmus, X-linked" }, { - "baseId": "25830|25831|25832|48172|48173|470465|649659|717622|849585|861669|939416|939417", + "upstreamId": "25830|25831|25832|48172|48173|470465|649659|717622|849585|861669|939416|939417", "text": "Polyagglutinable erythrocyte syndrome" }, { - "baseId": "25833|339629|339630|339631|339632|339634|349119|349120|349122|349124|349126|349130|349131|349133|349137|352464|352465|352466|352467|352468|352469|352470|352471|352472|352473|352975|352976|352977|352978|352979|352980|352981|352982|352983|352984|352985|352986|352987|620700|729725|745198|745426|903263|903264|903265|903266|903267|903268|903269|903270|903271|903272|903273|903274|903275", + "upstreamId": "25833|339629|339630|339631|339632|339634|349119|349120|349122|349124|349126|349130|349131|349133|349137|352464|352465|352466|352467|352468|352469|352470|352471|352472|352473|352975|352976|352977|352978|352979|352980|352981|352982|352983|352984|352985|352986|352987|620700|729725|745198|745426|903263|903264|903265|903266|903267|903268|903269|903270|903271|903272|903273|903274|903275", "text": "Premature ovarian failure 2b" }, { - "baseId": "25833|76339|133458|151128|152554|233445|238964|360884|360884|452897|486603|486604|486605|610437|610438|610439|610440|610441|610442|610443|610444|610445|610446|610447|610448|610449|610450|610451|610452|610453|610454|610455|610456|610457|610458|610459|610460|610461|610462|610463|610464|610465|610466|610467|610468|610469|610470|610471|610472|610473|610474|610475|610476|614158|798951|857360|857412|857413|857415|966618|969329", + "upstreamId": "25833|76339|133458|151128|152554|233445|238964|360884|360884|452897|486603|486604|486605|610437|610438|610439|610440|610441|610442|610443|610444|610445|610446|610447|610448|610449|610450|610451|610452|610453|610454|610455|610456|610457|610458|610459|610460|610461|610462|610463|610464|610465|610466|610467|610468|610469|610470|610471|610472|610473|610474|610475|610476|614158|798951|857360|857412|857413|857415|966618|969329", "text": "Premature ovarian insufficiency" }, { - "baseId": "25834|194486|404640|413833|508962|578596|622494|623368|626299|920039|971214|980404", + "upstreamId": "25834|194486|404640|413833|508962|578596|622494|623368|626299|920039|971214|980404", "text": "X-linked intellectual disability, Stocco dos Santos type" }, { - "baseId": "25836|25837|25838|25839|209132|361248|434695|539115|653919|920045|920046|972739", + "upstreamId": "25836|25837|25838|25839|209132|361248|434695|539115|653919|920045|920046|972739", "text": "Syndromic X-linked intellectual disability Siderius type" }, { - "baseId": "25840|101210|133935|133936|140166|140168|196272|204005|204006|204007|204007|204008|362040|380057|470799|470803|471558|534508|534816|774031|821791|850047|850048|850049|850050|857586|951790|959297", + "upstreamId": "25840|101210|133935|133936|140166|140168|196272|204005|204006|204007|204007|204008|362040|380057|470799|470803|471558|534508|534816|774031|821791|850047|850048|850049|850050|857586|951790|959297", "text": "Mental retardation, X-linked, syndromic, Hedera type" }, { - "baseId": "25841|25842|25843|102412|133980|192585|196081|209301|209307|213673|247209|339571|339572|339575|339580|339584|339591|339593|339599|339600|339601|339603|339611|349050|349051|349056|349057|349059|349062|349065|349067|349071|349072|349075|349082|349093|349101|349104|352448|352449|352450|352451|352452|352453|352454|352455|352456|352952|352953|352955|352956|352957|352958|352959|352960|352961|352962|352963|361256|553163|612340|614613|789392|792512|792513|805062|903216|903217|903218|903219|903220|903221|903222|903223|903224|903225|903226|903227|903228|903229|903230|903231|903232|903233|903234|903235|903236|903237|903238|903239|903240|903241|903242|903243|903244|903245|903246|903247|903248|903249|903487|903488|903489|903490|903491|903492|971232|976691", + "upstreamId": "25841|25842|25843|102412|133980|192585|196081|209301|209307|213673|247209|339571|339572|339575|339580|339584|339591|339593|339599|339600|339601|339603|339611|349050|349051|349056|349057|349059|349062|349065|349067|349071|349072|349075|349082|349093|349101|349104|352448|352449|352450|352451|352452|352453|352454|352455|352456|352952|352953|352955|352956|352957|352958|352959|352960|352961|352962|352963|361256|553163|612340|614613|789392|792512|792513|805062|903216|903217|903218|903219|903220|903221|903222|903223|903224|903225|903226|903227|903228|903229|903230|903231|903232|903233|903234|903235|903236|903237|903238|903239|903240|903241|903242|903243|903244|903245|903246|903247|903248|903249|903487|903488|903489|903490|903491|903492|971232|976691", "text": "Mental retardation, X-linked 93" }, { - "baseId": "25844|25845|25846|25847|25848|25849|25850|25851|38930|98783|98785|512558|513679|514789|538275|538276|538277|538278|538279|538280|538281|538282|538283|609027|677320|861662|961548|969760|977298", + "upstreamId": "25844|25845|25846|25847|25848|25849|25850|25851|38930|98783|98785|512558|513679|514789|538275|538276|538277|538278|538279|538280|538281|538282|538283|609027|677320|861662|961548|969760|977298", "text": "Opitz GBBB syndrome, type I" }, { - "baseId": "25852|25853|25854|25855|25856|25858|25859|25860|25861|25862|45334|45335|45336|45337|45338|45339|45340|192813|227421|227925|257806|264847|264860|264878|264990|264997|264998|265002|265078|265081|265088|265148|265152|265153|266010|271082|339116|339117|339123|339126|339127|348663|348667|348668|348671|352181|352182|352183|352184|352185|352186|352187|352813|352814|352815|352816|352817|352818|352819|352820|352821|352822|360620|378102|379204|411267|415766|422451|426451|426452|432106|432107|432108|432109|432110|432111|432112|432113|432114|432115|432116|432117|432118|432119|432120|432121|432122|432123|432124|432125|432126|432127|432128|432129|432130|432131|432132|432133|432134|432135|432136|432137|432138|432139|432140|432141|432142|432143|432144|432145|432146|432147|432148|432149|432150|432151|432152|432153|432154|432155|432156|432157|432158|432159|432160|432161|432162|432163|432164|432165|432166|432167|432168|432169|432170|432171|432172|432173|432174|432175|432176|432177|432179|432180|432181|432182|432183|432184|432185|432186|432187|432188|432189|432190|432191|432192|432193|432194|432195|432196|432197|432198|432199|442408|446613|490880|513164|576345|612170|612171|677468|731464|758434|786784|792205|792206|792207|792208|792209|792210|792211|792212|792213|792214|792215|792216|792217|792218|792219|792220|792221|792222|792223|792224|792225|792226|792227|792228|792229|792230|792231|792232|792233|792234|792235|792236|792237|792238|792239|792240|792241|792242|792243|792244|792245|792246|792247|792248|792249|818370|818371|818372|818373|818374|902986|902987|902988|902989|902990|902991|902992|902993|903468|903469|929646|965438|977390", + "upstreamId": "25852|25853|25854|25855|25856|25858|25859|25860|25861|25862|45334|45335|45336|45337|45338|45339|45340|192813|227421|227925|257806|264847|264860|264878|264990|264997|264998|265002|265078|265081|265088|265148|265152|265153|266010|271082|339116|339117|339123|339126|339127|348663|348667|348668|348671|352181|352182|352183|352184|352185|352186|352187|352813|352814|352815|352816|352817|352818|352819|352820|352821|352822|360620|378102|379204|411267|415766|422451|426451|426452|432106|432107|432108|432109|432110|432111|432112|432113|432114|432115|432116|432117|432118|432119|432120|432121|432122|432123|432124|432125|432126|432127|432128|432129|432130|432131|432132|432133|432134|432135|432136|432137|432138|432139|432140|432141|432142|432143|432144|432145|432146|432147|432148|432149|432150|432151|432152|432153|432154|432155|432156|432157|432158|432159|432160|432161|432162|432163|432164|432165|432166|432167|432168|432169|432170|432171|432172|432173|432174|432175|432176|432177|432179|432180|432181|432182|432183|432184|432185|432186|432187|432188|432189|432190|432191|432192|432193|432194|432195|432196|432197|432198|432199|442408|446613|490880|513164|576345|612170|612171|677468|731464|758434|786784|792205|792206|792207|792208|792209|792210|792211|792212|792213|792214|792215|792216|792217|792218|792219|792220|792221|792222|792223|792224|792225|792226|792227|792228|792229|792230|792231|792232|792233|792234|792235|792236|792237|792238|792239|792240|792241|792242|792243|792244|792245|792246|792247|792248|792249|818370|818371|818372|818373|818374|902986|902987|902988|902989|902990|902991|902992|902993|903468|903469|929646|965438|977390", "text": "Familial X-linked hypophosphatemic vitamin D refractory rickets" }, { - "baseId": "25863|25864|25865|25866|25867|25869|25870|25871|25872|25873|38929|100992|193550|226436|361249|481077|538315|538316|538317|538319|538320|538321|538516|682837|682838|792481|792482|792483|792484|798361|857660|920047|920456|971222", + "upstreamId": "25863|25864|25865|25866|25867|25869|25870|25871|25872|25873|38929|100992|193550|226436|361249|481077|538315|538316|538317|538319|538320|538321|538516|682837|682838|792481|792482|792483|792484|798361|857660|920047|920456|971222", "text": "Aarskog syndrome" }, { - "baseId": "25867", + "upstreamId": "25867", "text": "Syndromic X-linked mental retardation 16" }, { - "baseId": "25874|25875|25876|25877|25878|25879|25880|25881|25882|25883|25884|25885|25886|25887|25888|25889|25890|25891|25892|200712|257777|257778|257778|257779|257780|257781|257782|262272|263865|339043|339048|348595|348597|348599|348606|348607|352130|352132|352133|352146|352147|352792|352793|352794|361239|411518|432347|434690|438979|512609|729494|743213|743214|743215|743219|773877|792157|792158|792159|902871|902872|902873|902874|902875|902876|902877|902878|902879|902880|902881|902882|902883|902884|962818|963387|963388|969619|983816", + "upstreamId": "25874|25875|25876|25877|25878|25879|25880|25881|25882|25883|25884|25885|25886|25887|25888|25889|25890|25891|25892|200712|257777|257778|257778|257779|257780|257781|257782|262272|263865|339043|339048|348595|348597|348599|348606|348607|352130|352132|352133|352146|352147|352792|352793|352794|361239|411518|432347|434690|438979|512609|729494|743213|743214|743215|743219|773877|792157|792158|792159|902871|902872|902873|902874|902875|902876|902877|902878|902879|902880|902881|902882|902883|902884|962818|963387|963388|969619|983816", "text": "Nephrogenic diabetes insipidus, X-linked" }, { - "baseId": "25877|25892|32867|32869|32871|44358|44359|44360|44361|44401|44402|44403|44404|44405|44406|44407|44408|44409|44410|44411|44412|44413|254604|317493|331609|333087|441560|738689|738690|738691|753440|769168|769174|775850|979288", + "upstreamId": "25877|25892|32867|32869|32871|44358|44359|44360|44361|44401|44402|44403|44404|44405|44406|44407|44408|44409|44410|44411|44412|44413|254604|317493|331609|333087|441560|738689|738690|738691|753440|769168|769174|775850|979288", "text": "Nephrogenic diabetes insipidus" }, { - "baseId": "25893|25894|257778|434690", + "upstreamId": "25893|25894|257778|434690", "text": "Nephrogenic syndrome of inappropriate antidiuresis" }, { - "baseId": "25895|25896|25897|25898|25900|79587|79589|79590|79591|79592|79593|79594|79595|79596|79597|79598|79599|79600|79601|79602|79603|79605|79606|79607|79608|79609|79610|79611|79612|79613|79614|79615|79616|79617|98632|135296|135297|204258|204259|204260|204261|204262|204264|204278|204281|208866|265010|354269|470469|472050|492129|512586|534591|572191|572192|574268|575324|580763|585211|649663|649664|649665|649666|649667|653492|653687|653733|654142|677064|677065|717637|743141|773748|792121|818368|849600|849601|853026|861601|904883|929559|960361|972775", + "upstreamId": "25895|25896|25897|25898|25900|79587|79589|79590|79591|79592|79593|79594|79595|79596|79597|79598|79599|79600|79601|79602|79603|79605|79606|79607|79608|79609|79610|79611|79612|79613|79614|79615|79616|79617|98632|135296|135297|204258|204259|204260|204261|204262|204264|204278|204281|208866|265010|354269|470469|472050|492129|512586|534591|572191|572192|574268|575324|580763|585211|649663|649664|649665|649666|649667|653492|653687|653733|654142|677064|677065|717637|743141|773748|792121|818368|849600|849601|853026|861601|904883|929559|960361|972775", "text": "Lowe syndrome" }, { - "baseId": "25899|25900|38926|38927|38928|79588|79604|204279|204280|265010|539123|539165|649667|921248|963313|971177|971178", + "upstreamId": "25899|25900|38926|38927|38928|79588|79604|204279|204280|265010|539123|539165|649667|921248|963313|971177|971178", "text": "Dent disease type 2" }, { - "baseId": "25901|25903|25904|99463|131947|131948|131949|133666|134726|134728|134730|190332|191645|194880|205419|209101|209108|227679|264909|264918|273833|378441|378451|378452|378457|378466|378477|379317|379321|379449|379456|380077|380078|380082|380083|380084|380086|380087|384428|389192|411409|411411|411421|430836|430837|446696|446697|446698|446701|470880|471625|471626|471629|471633|471634|471637|471900|471903|471905|471908|471910|471913|472164|472165|495828|508598|508683|512701|513689|534387|534851|534852|534855|534856|534872|534881|534904|534905|534910|534911|534915|535032|535034|535036|535038|535040|535045|535046|535181|535182|535713|573913|573915|573921|573922|573923|574751|574803|574805|575431|575432|590809|590810|590811|611456|611471|611472|612123|650110|650111|650112|650113|650114|650115|650116|650117|650118|650119|650120|650121|650122|653790|677312|677473|694906|694907|706274|706275|717833|743393|745395|758559|758560|774111|774112|774113|774120|778527|786869|786873|792472|792473|792474|798346|800320|805131|805132|822229|822230|850168|850169|850170|850171|850172|850173|850174|850175|850176|850177|850178|850179|850180|850181|850182|850183|850184|850185|850186|850187|903653|904734|920040|920041|920042|929774|929775|929776|929777|929778|929779|929780|929781|939640|939641|939642|939643|939644|939645|939646|951852|951853|951854|959323|959324|959325|959326|959327|960390|963986|963987|964621|964622|967284|971217|972738|983656", + "upstreamId": "25901|25903|25904|99463|131947|131948|131949|133666|134726|134728|134730|190332|191645|194880|205419|209101|209108|227679|264909|264918|273833|378441|378451|378452|378457|378466|378477|379317|379321|379449|379456|380077|380078|380082|380083|380084|380086|380087|384428|389192|411409|411411|411421|430836|430837|446696|446697|446698|446701|470880|471625|471626|471629|471633|471634|471637|471900|471903|471905|471908|471910|471913|472164|472165|495828|508598|508683|512701|513689|534387|534851|534852|534855|534856|534872|534881|534904|534905|534910|534911|534915|535032|535034|535036|535038|535040|535045|535046|535181|535182|535713|573913|573915|573921|573922|573923|574751|574803|574805|575431|575432|590809|590810|590811|611456|611471|611472|612123|650110|650111|650112|650113|650114|650115|650116|650117|650118|650119|650120|650121|650122|653790|677312|677473|694906|694907|706274|706275|717833|743393|745395|758559|758560|774111|774112|774113|774120|778527|786869|786873|792472|792473|792474|798346|800320|805131|805132|822229|822230|850168|850169|850170|850171|850172|850173|850174|850175|850176|850177|850178|850179|850180|850181|850182|850183|850184|850185|850186|850187|903653|904734|920040|920041|920042|929774|929775|929776|929777|929778|929779|929780|929781|939640|939641|939642|939643|939644|939645|939646|951852|951853|951854|959323|959324|959325|959326|959327|960390|963986|963987|964621|964622|967284|971217|972738|983656", "text": "Mental retardation, X-linked 1" }, { - "baseId": "25902", + "upstreamId": "25902", "text": "Mental retardation, X-linked 18" }, { - "baseId": "25905|25906|25907|25908|25909|45729|45730|99372|194866|195603|245218|245222|257770|338984|338985|338987|338992|338998|339001|339005|348561|348562|348579|352098|352099|352102|352780|352781|352782|352783|352784|352785|352786|404139|404461|470515|471328|534596|553573|575340|678981|678982|678983|678985|678988|678989|678990|678991|678992|678993|678994|678996|678997|678998|678999|679000|679002|684959|902835|902836|902837|902838|902839|902840|902841|902842|902843|902844|902845|971182", + "upstreamId": "25905|25906|25907|25908|25909|45729|45730|99372|194866|195603|245218|245222|257770|338984|338985|338987|338992|338998|339001|339005|348561|348562|348579|352098|352099|352102|352780|352781|352782|352783|352784|352785|352786|404139|404461|470515|471328|534596|553573|575340|678981|678982|678983|678985|678988|678989|678990|678991|678992|678993|678994|678996|678997|678998|678999|679000|679002|684959|902835|902836|902837|902838|902839|902840|902841|902842|902843|902844|902845|971182", "text": "Fanconi anemia, complementation group B" }, { - "baseId": "25910|25911|25912|25913|25914|25915|25916|25917|25918|25919|25920|25921|25922|25923|25924|25925|25926|25927|25928|25929|25930|25932|98677|98678|98679|142349|142367|198647|205341|208994|212003|212004|212009|212010|212014|212015|212016|212019|212020|269240|361087|361241|361266|363794|379176|379177|379181|379278|411240|411241|424351|426447|439032|481436|481437|481438|481439|508137|508510|508511|508641|534786|535124|552254|552255|552256|552257|574444|581767|581779|581780|590462|624873|649923|649924|649925|649926|649927|649928|677311|729539|743274|745466|773951|773953|773954|773956|776966|786776|786777|786778|792201|792202|798811|805128|816501|821496|849880|849881|849882|849883|858658|902942|902943|902944|902945|902946|902947|902948|902949|902950|902951|902952|902953|902954|902955|902956|902957|902958|902959|902960|902961|902962|902963|902964|902965|902966|902967|902968|902969|902970|902971|902972|902973|902974|902975|902976|902977|902978|902979|902980|902981|902982|903467|920003|920443|920444|939521|951703|964591|971198|973048|975876|980752", + "upstreamId": "25910|25911|25912|25913|25914|25915|25916|25917|25918|25919|25920|25921|25922|25923|25924|25925|25926|25927|25928|25929|25930|25932|98677|98678|98679|142349|142367|198647|205341|208994|212003|212004|212009|212010|212014|212015|212016|212019|212020|269240|361087|361241|361266|363794|379176|379177|379181|379278|411240|411241|424351|426447|439032|481436|481437|481438|481439|508137|508510|508511|508641|534786|535124|552254|552255|552256|552257|574444|581767|581779|581780|590462|624873|649923|649924|649925|649926|649927|649928|677311|729539|743274|745466|773951|773953|773954|773956|776966|786776|786777|786778|792201|792202|798811|805128|816501|821496|849880|849881|849882|849883|858658|902942|902943|902944|902945|902946|902947|902948|902949|902950|902951|902952|902953|902954|902955|902956|902957|902958|902959|902960|902961|902962|902963|902964|902965|902966|902967|902968|902969|902970|902971|902972|902973|902974|902975|902976|902977|902978|902979|902980|902981|902982|903467|920003|920443|920444|939521|951703|964591|971198|973048|975876|980752", "text": "Pyruvate dehydrogenase E1-alpha deficiency" }, { - "baseId": "25924|98679|140795|140797|140798|140799|140800|140801|140803|140804|140805|140806|142351|200131|200139|200140|211018|212002|292521|292526|295908|295924|295936|301480|301484|301488|301489|301493|301494|301500|301501|301503|301504|304711|304712|304731|304734|304735|304737|304738|304739|304740|304742|304743|304744|304760|309367|309368|309370|309371|309499|309501|309502|309504|309505|320296|327354|353651|353804|368842|488040|501526|514795|566277|615914|649923|734259|743274|743962|765983|786778|849883|897233|897234|897235|897236|897237|897238|897239|897240|897241|897242|897243|897244|897245|897246|897247|897248|897249|897250|897251|897252|897253|897254|897255|953582|977983|977984|977985|977986|977987|977988|977989|977990|977991|977992|980097|980098|980099", + "upstreamId": "25924|98679|140795|140797|140798|140799|140800|140801|140803|140804|140805|140806|142351|200131|200139|200140|211018|212002|292521|292526|295908|295924|295936|301480|301484|301488|301489|301493|301494|301500|301501|301503|301504|304711|304712|304731|304734|304735|304737|304738|304739|304740|304742|304743|304744|304760|309367|309368|309370|309371|309499|309501|309502|309504|309505|320296|327354|353651|353804|368842|488040|501526|514795|566277|615914|649923|734259|743274|743962|765983|786778|849883|897233|897234|897235|897236|897237|897238|897239|897240|897241|897242|897243|897244|897245|897246|897247|897248|897249|897250|897251|897252|897253|897254|897255|953582|977983|977984|977985|977986|977987|977988|977989|977990|977991|977992|980097|980098|980099", "text": "Pyruvate dehydrogenase complex deficiency" }, { - "baseId": "25933|25934|25935|25936|424906|963981", + "upstreamId": "25933|25934|25935|25936|424906|963981", "text": "Mental retardation 9, X-linked" }, { - "baseId": "25937|25938|25939|25940|25941|25942|25943|25944|25945|25946|25947|25948|25949|76322|271618|338825|338827|338831|338832|348436|348446|348451|348452|348453|352051|352052|352053|352055|352056|352057|352744|352745|352746|352747|352748|534501|538284|538285|538286|539418|574193|575284|760829|849599|852961|902766|902767|902768|902769|902770|902771|902772|902773|929556|929557|929558|951587|951588|960972", + "upstreamId": "25937|25938|25939|25940|25941|25942|25943|25944|25945|25946|25947|25948|25949|76322|271618|338825|338827|338831|338832|348436|348446|348451|348452|348453|352051|352052|352053|352055|352056|352057|352744|352745|352746|352747|352748|534501|538284|538285|538286|539418|574193|575284|760829|849599|852961|902766|902767|902768|902769|902770|902771|902772|902773|929556|929557|929558|951587|951588|960972", "text": "Lymphoproliferative syndrome 1, X-linked" }, { - "baseId": "25937|621676", + "upstreamId": "25937|621676", "text": "X-Linked Lymphoproliferative Syndrome" }, { - "baseId": "25950|25951|25952|25953|25954|25956|25957|25958|101661|101662|101663|101664|101665|101669|133972|137418|137424|137425|137430|137432|137433|137434|177520|177521|178422|178423|178424|191264|196044|209036|209037|209040|213667|243725|243815|257836|269266|271259|364216|404451|404579|411329|430780|431933|446645|470789|470791|471551|471556|471877|471878|471880|472148|472149|472150|472151|493731|513396|534811|534861|534863|534864|534866|534968|572483|572490|573860|574728|575411|575412|582122|612138|650040|650041|650042|650043|650044|650045|650046|650047|650048|653421|684995|684999|685000|685001|685003|685008|685009|685012|689497|689500|689501|689507|689509|717788|729582|786823|786824|786825|816502|821790|850039|850040|850041|850042|850043|850044|850045|850046|920018|920019|920020|929726|939592|951785|951786|951787|951788|951789|959296|964607|964608", + "upstreamId": "25950|25951|25952|25953|25954|25956|25957|25958|101661|101662|101663|101664|101665|101669|133972|137418|137424|137425|137430|137432|137433|137434|177520|177521|178422|178423|178424|191264|196044|209036|209037|209040|213667|243725|243815|257836|269266|271259|364216|404451|404579|411329|430780|431933|446645|470789|470791|471551|471556|471877|471878|471880|472148|472149|472150|472151|493731|513396|534811|534861|534863|534864|534866|534968|572483|572490|573860|574728|575411|575412|582122|612138|650040|650041|650042|650043|650044|650045|650046|650047|650048|653421|684995|684999|685000|685001|685003|685008|685009|685012|689497|689500|689501|689507|689509|717788|729582|786823|786824|786825|816502|821790|850039|850040|850041|850042|850043|850044|850045|850046|920018|920019|920020|929726|939592|951785|951786|951787|951788|951789|959296|964607|964608", "text": "Oculofaciocardiodental syndrome" }, { - "baseId": "25959|25960|25963|25964|25965|25971|25975", + "upstreamId": "25959|25960|25963|25964|25965|25971|25975", "text": "Granulomatous disease, chronic, X-linked, variant" }, { - "baseId": "25961|25962|25965|25966|25967|25968|25969|25970|25972|25973|25976|25977|25978|25979|44631|44632|44633|44634|44635|44636|44637|44638|44639|44640|79259|79263|79276|79277|79282|79303|79306|205028|260316|265008|360631|413820|470778|488042|534791|534794|534858|534859|534950|535161|535162|572471|573846|573852|574724|574726|612122|614507|614507|621692|650029|650030|650031|650032|650033|650034|650035|653677|653784|717787|729577|729578|743305|743306|743307|758475|771138|774012|774013|774015|774016|774018|774019|774020|786818|788371|792433|818401|821779|821780|821781|821782|821783|850017|850018|850019|850020|850021|850022|850023|850024|850025|850026|850027|851968|852515|917368|929719|929720|929721|929722|939584|939585|939586|951773|951774|951775|951776|951777|951778|951779|959284|959285|959286|959287|959288", + "upstreamId": "25961|25962|25965|25966|25967|25968|25969|25970|25972|25973|25976|25977|25978|25979|44631|44632|44633|44634|44635|44636|44637|44638|44639|44640|79259|79263|79276|79277|79282|79303|79306|205028|260316|265008|360631|413820|470778|488042|534791|534794|534858|534859|534950|535161|535162|572471|573846|573852|574724|574726|612122|614507|614507|621692|650029|650030|650031|650032|650033|650034|650035|653677|653784|717787|729577|729578|743305|743306|743307|758475|771138|774012|774013|774015|774016|774018|774019|774020|786818|788371|792433|818401|821779|821780|821781|821782|821783|850017|850018|850019|850020|850021|850022|850023|850024|850025|850026|850027|851968|852515|917368|929719|929720|929721|929722|939584|939585|939586|951773|951774|951775|951776|951777|951778|951779|959284|959285|959286|959287|959288", "text": "Chronic granulomatous disease, X-linked" }, { - "baseId": "25980|25981|25982|25983|25984|25985|25986|25987", + "upstreamId": "25980|25981|25982|25983|25984|25985|25986|25987", "text": "Deficiency of glycerol kinase" }, { - "baseId": "25988|25989|25990|25991|25992|25993|25994|25995|25996|25997|25998|25999|26000|26002|26003|26004|26005|26006|26007|26008|26009|26010|26011|26012|26013|26014|26015|26016|45325|45326|70525|227422|227422|247501|390700|422461|422461|437712|437713|437714|437715|437716|437717|437718|437719|437720|437721|437722|437723|437724|437725|437726|437727|437728|437729|437730|437731|437732|437733|437734|471455|471847|472119|485815|485816|485817|485818|485818|485819|485820|485821|485822|485823|573780|578591|581824|581824|612339|694856|706207|821614|849921|849922|849923|951734|966573|969543|976813", + "upstreamId": "25988|25989|25990|25991|25992|25993|25994|25995|25996|25997|25998|25999|26000|26002|26003|26004|26005|26006|26007|26008|26009|26010|26011|26012|26013|26014|26015|26016|45325|45326|70525|227422|227422|247501|390700|422461|422461|437712|437713|437714|437715|437716|437717|437718|437719|437720|437721|437722|437723|437724|437725|437726|437727|437728|437729|437730|437731|437732|437733|437734|471455|471847|472119|485815|485816|485817|485818|485818|485819|485820|485821|485822|485823|573780|578591|581824|581824|612339|694856|706207|821614|849921|849922|849923|951734|966573|969543|976813", "text": "Congenital adrenal hypoplasia, X-linked" }, { - "baseId": "26001|227422|422461|471455|471847|472119|485818|573780|581824|694856|706207|821614|849921|849922|849923|951734", + "upstreamId": "26001|227422|422461|471455|471847|472119|485818|573780|581824|694856|706207|821614|849921|849922|849923|951734", "text": "46,XY sex reversal, type 2" }, { - "baseId": "26017", + "upstreamId": "26017", "text": "Mineralocorticoid deficiency, isolated" }, { - "baseId": "26018|26019|26020|26021|26022|26023|26024|101208|101209|339343|339345|348882|535359|538314|552259|798816|805049|903069|903070|903071|903072|903478|920032|920033|965889|966028|971208|976688", + "upstreamId": "26018|26019|26020|26021|26022|26023|26024|101208|101209|339343|339345|348882|535359|538314|552259|798816|805049|903069|903070|903071|903072|903478|920032|920033|965889|966028|971208|976688", "text": "Renpenning syndrome 1" }, { - "baseId": "26019|79446|137063|137063|137064|137064|137065|137065|153138|165849|166182|166183|166184|166185|166186|166187|166188|166189|166190|166191|166192|178411|178412|178415|248477|263202|263224|263249|263280|263289|263363|263393|263410|264749|322495|360857|360877|360939|360957|362170|426751|439633|439634|439635|513964|514016|514079|514090|514099|514170|514173|514201|514214|536013|536014|550129|550226|610430|610540|610541|610542|623596|623599|623600|623601|623602|678050|679483|801216|802096|805068|858271|861048|861284|965459|984026|984027|984028|984029|984030|984031|984032|984033|984034|984035", + "upstreamId": "26019|79446|137063|137063|137064|137064|137065|137065|153138|165849|166182|166183|166184|166185|166186|166187|166188|166189|166190|166191|166192|178411|178412|178415|248477|263202|263224|263249|263280|263289|263363|263393|263410|264749|322495|360857|360877|360939|360957|362170|426751|439633|439634|439635|513964|514016|514079|514090|514099|514170|514173|514201|514214|536013|536014|550129|550226|610430|610540|610541|610542|623596|623599|623600|623601|623602|678050|679483|801216|802096|805068|858271|861048|861284|965459|984026|984027|984028|984029|984030|984031|984032|984033|984034|984035", "text": "Delayed speech and language development" }, { - "baseId": "26019|263289|360889|360996", + "upstreamId": "26019|263289|360889|360996", "text": "Hyperactivity" }, { - "baseId": "26025|26026|26027|26028|26029|26030|26031|26032|26033|26035|26037|26038|26039|26040|26041|26042|26045|26046|26047|26048|26049|26050|26051|26052|26053|99127|99130|102992|102996|102999|103004|103006|103009|103010|103014|103028|103044|103050|103051|103054|103066|103067|103082|103084|103088|103090|103108|103119|103120|103129|103144|103147|103159|103162|103166|103167|103176|103191|103194|103205|103225|103229|103242|103257|103258|103263|103264|135313|171249|200389|213950|237753|257833|257835|339172|339179|348725|348727|352221|352224|352226|352227|379267|424256|446640|446643|480410|480413|480414|480415|480416|480536|488051|508255|508256|512654|514136|534860|534957|534965|535165|572127|572472|572475|573855|575304|580777|612172|650039|670077|694876|743309|743310|758478|774025|788361|792446|792447|792448|792449|821501|821787|821788|821789|850033|850034|850035|850036|850037|850038|853041|858480|858481|858482|858483|858487|858488|858489|858490|858491|858492|858493|858494|858495|858496|858497|858498|858772|903034|903035|903036|903474|903697|903698|903699|917369|920017|921447|921529|929724|929725|939587|939588|939589|939590|939591|951781|951782|951783|951784|959292|959293|959294|959295", + "upstreamId": "26025|26026|26027|26028|26029|26030|26031|26032|26033|26035|26037|26038|26039|26040|26041|26042|26045|26046|26047|26048|26049|26050|26051|26052|26053|99127|99130|102992|102996|102999|103004|103006|103009|103010|103014|103028|103044|103050|103051|103054|103066|103067|103082|103084|103088|103090|103108|103119|103120|103129|103144|103147|103159|103162|103166|103167|103176|103191|103194|103205|103225|103229|103242|103257|103258|103263|103264|135313|171249|200389|213950|237753|257833|257835|339172|339179|348725|348727|352221|352224|352226|352227|379267|424256|446640|446643|480410|480413|480414|480415|480416|480536|488051|508255|508256|512654|514136|534860|534957|534965|535165|572127|572472|572475|573855|575304|580777|612172|650039|670077|694876|743309|743310|758478|774025|788361|792446|792447|792448|792449|821501|821787|821788|821789|850033|850034|850035|850036|850037|850038|853041|858480|858481|858482|858483|858487|858488|858489|858490|858491|858492|858493|858494|858495|858496|858497|858498|858772|903034|903035|903036|903474|903697|903698|903699|917369|920017|921447|921529|929724|929725|939587|939588|939589|939590|939591|951781|951782|951783|951784|959292|959293|959294|959295", "text": "Ornithine carbamoyltransferase deficiency" }, { - "baseId": "26033", + "upstreamId": "26033", "text": "ORNITHINE TRANSCARBAMYLASE POLYMORPHISM" }, { - "baseId": "26055|26056|26057|26058|26059|26060|26061|99573|99574|99575|99576|99577|99578|99579|99581|99582|99583|142293|142294|142296|142299|142300|142301|142303|142304|169839|169840|169841|169842|169843|169844|169845|169846|169847|177303|190356|190361|190362|195290|203869|203872|203874|203875|203876|203879|203880|203886|203887|203891|203892|203897|203902|203905|203907|203911|203912|203913|203915|203917|203919|203921|203922|203923|203925|203926|203932|203939|203950|208821|208822|213663|271364|271785|361419|377638|377640|377645|378778|378882|404007|404010|404011|404037|404042|404418|404419|404452|404458|411060|413846|415727|438970|439889|442357|442358|446438|446440|446441|446447|470389|470436|470437|471206|471207|471208|471210|471655|471657|472032|472033|472034|472035|472036|472037|472038|472039|495779|507637|507726|508457|534371|534405|534410|534414|534418|534422|534441|534444|534450|534451|534560|534561|534565|534955|534960|534963|538624|552236|552237|572128|572130|572133|572135|572137|572148|572149|573488|573492|573497|573500|574221|574230|574231|575306|575307|575308|575309|575310|575311|575312|580592|580706|580711|580724|580730|580852|580855|610524|611437|614495|614496|623168|625826|649562|649563|649564|649565|649566|649567|649568|649569|649570|649571|649572|649573|649574|649575|649576|649577|649578|649578|649579|649580|649581|649582|649583|649584|649585|649586|649587|649588|653428|653429|653485|653632|653734|653771|680059|684924|689296|689300|689301|694757|694759|758195|773651|773655|789135|792085|792086|792087|792088|792089|792090|792091|792092|792093|792094|792095|792096|792097|794343|794344|794345|794346|794348|794349|794351|794352|802039|802040|802041|806145|821534|821535|821536|821537|821538|849469|849470|849471|849472|849473|849474|849475|849476|849477|849478|849479|849480|849481|849482|849483|849484|849485|849486|849487|849488|849489|849490|849491|849492|849493|849494|849495|849496|849497|849498|849499|849500|849501|849502|849503|849504|849505|852951|852952|852953|858358|858359|858360|858361|858362|858363|858364|858365|858515|917737|919963|919964|929514|929515|929516|929517|929518|929519|929520|929521|929522|929523|929524|929525|939369|939370|939371|939372|939373|939374|939375|939376|939377|939378|939379|939380|951538|951539|951540|951541|951542|951543|951544|951545|951546|951547|951548|951549|951550|951551|951552|951553|951554|951555|951556|951557|959138|959139|959140|959141|959142|959143|959144|959145|962866|963942|964559|964560|964561|964562|964563|965747|969568|971167", + "upstreamId": "26055|26056|26057|26058|26059|26060|26061|99573|99574|99575|99576|99577|99578|99579|99581|99582|99583|142293|142294|142296|142299|142300|142301|142303|142304|169839|169840|169841|169842|169843|169844|169845|169846|169847|177303|190356|190361|190362|195290|203869|203872|203874|203875|203876|203879|203880|203886|203887|203891|203892|203897|203902|203905|203907|203911|203912|203913|203915|203917|203919|203921|203922|203923|203925|203926|203932|203939|203950|208821|208822|213663|271364|271785|361419|377638|377640|377645|378778|378882|404007|404010|404011|404037|404042|404418|404419|404452|404458|411060|413846|415727|438970|439889|442357|442358|446438|446440|446441|446447|470389|470436|470437|471206|471207|471208|471210|471655|471657|472032|472033|472034|472035|472036|472037|472038|472039|495779|507637|507726|508457|534371|534405|534410|534414|534418|534422|534441|534444|534450|534451|534560|534561|534565|534955|534960|534963|538624|552236|552237|572128|572130|572133|572135|572137|572148|572149|573488|573492|573497|573500|574221|574230|574231|575306|575307|575308|575309|575310|575311|575312|580592|580706|580711|580724|580730|580852|580855|610524|611437|614495|614496|623168|625826|649562|649563|649564|649565|649566|649567|649568|649569|649570|649571|649572|649573|649574|649575|649576|649577|649578|649578|649579|649580|649581|649582|649583|649584|649585|649586|649587|649588|653428|653429|653485|653632|653734|653771|680059|684924|689296|689300|689301|694757|694759|758195|773651|773655|789135|792085|792086|792087|792088|792089|792090|792091|792092|792093|792094|792095|792096|792097|794343|794344|794345|794346|794348|794349|794351|794352|802039|802040|802041|806145|821534|821535|821536|821537|821538|849469|849470|849471|849472|849473|849474|849475|849476|849477|849478|849479|849480|849481|849482|849483|849484|849485|849486|849487|849488|849489|849490|849491|849492|849493|849494|849495|849496|849497|849498|849499|849500|849501|849502|849503|849504|849505|852951|852952|852953|858358|858359|858360|858361|858362|858363|858364|858365|858515|917737|919963|919964|929514|929515|929516|929517|929518|929519|929520|929521|929522|929523|929524|929525|939369|939370|939371|939372|939373|939374|939375|939376|939377|939378|939379|939380|951538|951539|951540|951541|951542|951543|951544|951545|951546|951547|951548|951549|951550|951551|951552|951553|951554|951555|951556|951557|959138|959139|959140|959141|959142|959143|959144|959145|962866|963942|964559|964560|964561|964562|964563|965747|969568|971167", "text": "Early infantile epileptic encephalopathy 9" }, { - "baseId": "26062|26063|26064|26065|26066|26067|102525|102527|102528|102531|102532|102533|102538|135215|135219|135220|135221|135223|177176|177308|188072|193759|195450|195455|208983|208987|227708|362596|430751|430753|470640|470642|470647|471426|471608|472111|534359|534679|534771|572367|573752|575279|575375|580756|580885|611936|649895|706184|729529|743266|758409|792183|821571|849847|849848|849849|849850|959215", + "upstreamId": "26062|26063|26064|26065|26066|26067|102525|102527|102528|102531|102532|102533|102538|135215|135219|135220|135221|135223|177176|177308|188072|193759|195450|195455|208983|208987|227708|362596|430751|430753|470640|470642|470647|471426|471608|472111|534359|534679|534771|572367|573752|575279|575375|580756|580885|611936|649895|706184|729529|743266|758409|792183|821571|849847|849848|849849|849850|959215", "text": "Nance-Horan syndrome" }, { - "baseId": "26068|26069|177308|208983|919997", + "upstreamId": "26068|26069|177308|208983|919997", "text": "Cataract 40" }, { - "baseId": "26070|26070|26071|26072|26073|26074|26074|26075|26076|26077|26078|26079|26080|26081|26082|26085|26086|26087|40564|48190|53352|53354|53355|53357|53358|53359|53360|53361|53362|53363|53364|53365|53366|53367|53369|53370|53371|53372|53376|53377|53378|53380|53382|53383|176310|176311|176312|176324|176325|176327|176328|176330|176432|176433|176434|176435|176445|176446|176447|176448|176450|176451|176452|231286|231287|231289|231291|231292|231292|231293|231294|231296|247465|247466|247467|257866|260338|260340|379504|380105|411448|422942|446737|470380|470433|470922|470927|471201|471669|471956|471957|471958|471959|471960|472186|472187|534391|534513|534909|534912|534933|534936|534942|535048|535053|535054|535055|573965|573970|574827|574868|574869|574870|574871|574874|574875|575440|575441|610258|612124|650159|650160|650161|650162|650163|650164|650165|653369|653372|653469|653539|653678|653718|653770|679215|689535|689536|694917|706295|706296|706297|706298|758620|774175|774177|792491|792492|798820|821794|821795|850219|850220|850221|850222|850223|853044|853045|929796|939661|941314|951864|951865|951866|959333|980108|980109", + "upstreamId": "26070|26070|26071|26072|26073|26074|26074|26075|26076|26077|26078|26079|26080|26081|26082|26085|26086|26087|40564|48190|53352|53354|53355|53357|53358|53359|53360|53361|53362|53363|53364|53365|53366|53367|53369|53370|53371|53372|53376|53377|53378|53380|53382|53383|176310|176311|176312|176324|176325|176327|176328|176330|176432|176433|176434|176435|176445|176446|176447|176448|176450|176451|176452|231286|231287|231289|231291|231292|231292|231293|231294|231296|247465|247466|247467|257866|260338|260340|379504|380105|411448|422942|446737|470380|470433|470922|470927|471201|471669|471956|471957|471958|471959|471960|472186|472187|534391|534513|534909|534912|534933|534936|534942|535048|535053|535054|535055|573965|573970|574827|574868|574869|574870|574871|574874|574875|575440|575441|610258|612124|650159|650160|650161|650162|650163|650164|650165|653369|653372|653469|653539|653678|653718|653770|679215|689535|689536|694917|706295|706296|706297|706298|758620|774175|774177|792491|792492|798820|821794|821795|850219|850220|850221|850222|850223|853044|853045|929796|939661|941314|951864|951865|951866|959333|980108|980109", "text": "Hypohidrotic X-linked ectodermal dysplasia" }, { - "baseId": "26070|26074|26083|26084|26087|132579|231292|247464|247465|247466|613835", + "upstreamId": "26070|26074|26083|26084|26087|132579|231292|247464|247465|247466|613835", "text": "Tooth agenesis, selective, X-linked, 1" }, { - "baseId": "26088|38923|133899|133900|226995|269241|271358|378527|379337|379342|379350|379477|379488|424678|426483|430872|446726|470882|470894|471649|471651|471652|472168|472169|472170|486788|492992|508686|534887|534888|534890|534924|535714|572553|573940|573941|573945|574815|574817|575435|575436|575437|581020|581102|650132|650133|650134|650135|650136|650137|650138|650139|650140|653792|653907|689533|690277|743428|743429|792485|792611|802053|802067|822232|822233|850202|850203|850204|850205|850206|850207|920048|929788|929789|929790|939654|939655|940567|941313|959329|963193|964628|976689|980510", + "upstreamId": "26088|38923|133899|133900|226995|269241|271358|378527|379337|379342|379350|379477|379488|424678|426483|430872|446726|470882|470894|471649|471651|471652|472168|472169|472170|486788|492992|508686|534887|534888|534890|534924|535714|572553|573940|573941|573945|574815|574817|575435|575436|575437|581020|581102|650132|650133|650134|650135|650136|650137|650138|650139|650140|653792|653907|689533|690277|743428|743429|792485|792611|802053|802067|822232|822233|850202|850203|850204|850205|850206|850207|920048|929788|929789|929790|939654|939655|940567|941313|959329|963193|964628|976689|980510", "text": "Early infantile epileptic encephalopathy 8" }, { - "baseId": "26089|268952", + "upstreamId": "26089|268952", "text": "Asperger syndrome X-linked 2" }, { - "baseId": "26089|26090|26091|101876|268952|361250|552264|818377|964627", + "upstreamId": "26089|26090|26091|101876|268952|361250|552264|818377|964627", "text": "Autism, susceptibility to, X-linked 2" }, { - "baseId": "26090|26091|166020|208879|338922|339091|339605|339609|339610|339629|348476|348494|348655|348674|348817|348863|349099|349107|349108|349119|349120|351947|352171|352188|352269|352272|352278|352459|352464|352714|352758|352761|352762|352811|352823|352824|352856|352881|352954|352964|352967|352968|352969|352975|352976|352978|352979|353861|353865|353868|430619|486700|970102|972842|973005", + "upstreamId": "26090|26091|166020|208879|338922|339091|339605|339609|339610|339629|348476|348494|348655|348674|348817|348863|349099|349107|349108|349119|349120|351947|352171|352188|352269|352272|352278|352459|352464|352714|352758|352761|352762|352811|352823|352824|352856|352881|352954|352964|352967|352968|352969|352975|352976|352978|352979|353861|353865|353868|430619|486700|970102|972842|973005", "text": "Non-syndromic X-linked intellectual disability" }, { - "baseId": "26102|26103|26104|26105|26106|26107|26108|26109|26110|26111|102115|135332|135333|138770|143192|215102|244000|361966|431931|481264|481443|585634|612169|792589|849662|920436|951615|964699|971180", + "upstreamId": "26102|26103|26104|26105|26106|26107|26108|26109|26110|26111|102115|135332|135333|138770|143192|215102|244000|361966|431931|481264|481443|585634|612169|792589|849662|920436|951615|964699|971180", "text": "Borjeson-Forssman-Lehmann syndrome" }, { - "baseId": "26112|26113|26114|26115|26116|26117|26118|26119|26120|26121|26125|26132|26133|26135|26138|205797|208829|222879|384416|404041|425233|488162|495615|535711|538274|552238|552239|552240|612344|614612|623125|792104|792105|804833|804911|804912|804913|919966|919967", + "upstreamId": "26112|26113|26114|26115|26116|26117|26118|26119|26120|26121|26125|26132|26133|26135|26138|205797|208829|222879|384416|404041|425233|488162|495615|535711|538274|552238|552239|552240|612344|614612|623125|792104|792105|804833|804911|804912|804913|919966|919967", "text": "Pelizaeus-Merzbacher disease" }, { - "baseId": "26122|26130", + "upstreamId": "26122|26130", "text": "Pelizaeus-Merzbacher disease, connatal" }, { - "baseId": "26123|26124|26128|26129|26131|26137|99139|99142|135421|222879|222880|262412|274662|404041|404041|404425|404473|424601|471675|471677|481448|534374|534434|534442|552238|552240|572164|573518|649623|649624|653272|653727|653772|679570|679572|806147|821474|849542|929538|939393|939394|941284|960354", + "upstreamId": "26123|26124|26128|26129|26131|26137|99139|99142|135421|222879|222880|262412|274662|404041|404041|404425|404473|424601|471675|471677|481448|534374|534434|534442|552238|552240|572164|573518|649623|649624|653272|653727|653772|679570|679572|806147|821474|849542|929538|939393|939394|941284|960354", "text": "Hereditary spastic paraplegia 2" }, { - "baseId": "26126|26127", + "upstreamId": "26126|26127", "text": "Pelizaeus-Merzbacher disease, mild" }, { - "baseId": "26129|26136", + "upstreamId": "26129|26136", "text": "Pelizaeus-Merzbacher disease, atypical" }, { - "baseId": "26139|26140|26141|26142|26143|26144|26145|26146|26147|26148|26149|26150|26151|44181|45455|51424|51425|51426|51427|51429|51431|51434|51435|51440|143091|143093|176309|176911|178190|178191|178197|178206|198557|198559|198560|198561|222884|224586|232152|243780|243781|243782|339057|348271|352158|352159|352160|352795|352796|352797|404498|404531|411200|415753|424452|424569|427120|446585|470627|471415|472106|481484|508958|508959|534659|534750|534757|534759|551752|573735|574373|575372|575373|649883|649884|649885|649886|649887|649888|649889|649890|649891|649892|653360|653450|653507|653703|679552|684977|689437|694843|798809|849833|849834|849835|849836|849837|849838|849839|849840|852477|852480|852971|853033|902885|902886|902887|902888|902889|902890|902891|903462|929630|929631|929632|941290|951686|951687|960370|980973", + "upstreamId": "26139|26140|26141|26142|26143|26144|26145|26146|26147|26148|26149|26150|26151|44181|45455|51424|51425|51426|51427|51429|51431|51434|51435|51440|143091|143093|176309|176911|178190|178191|178197|178206|198557|198559|198560|198561|222884|224586|232152|243780|243781|243782|339057|348271|352158|352159|352160|352795|352796|352797|404498|404531|411200|415753|424452|424569|427120|446585|470627|471415|472106|481484|508958|508959|534659|534750|534757|534759|551752|573735|574373|575372|575373|649883|649884|649885|649886|649887|649888|649889|649890|649891|649892|653360|653450|653507|653703|679552|684977|689437|694843|798809|849833|849834|849835|849836|849837|849838|849839|849840|852477|852480|852971|853033|902885|902886|902887|902888|902889|902890|902891|903462|929630|929631|929632|941290|951686|951687|960370|980973", "text": "3-Methylglutaconic aciduria type 2" }, { - "baseId": "26152|26153|26154|26154|26158|26159|26160|26162|26163|26167|26168|26169|26170|26171|26171|26172|26173|26174|38922|45569|45570|45571|45572|45572|45573|45574|139149|139150|139152|139153|139153|193420|209070|257843|257844|260329|272093|360647|360647|380065|380066|411388|411388|438442|446680|471605|487893|487984|488052|488054|488054|534824|534891|535002|535004|535176|539188|572504|572507|572514|573887|573889|574738|574741|575421|575422|575423|575424|621694|626360|626361|626362|626363|650078|650079|650080|650081|650082|650083|650084|650085|650086|650087|653787|653788|653789|685015|685016|689515|689516|689517|689518|743358|786849|821506|821507|821509|822226|822334|822335|850091|850092|850093|850094|850095|850096|850097|850098|850099|850100|850101|850102|850103|850104|858661|917576|929746|929747|929748|929749|929750|929751|929752|939609|939610|939611|951813|951814|951815|959310|959311|965873", + "upstreamId": "26152|26153|26154|26154|26158|26159|26160|26162|26163|26167|26168|26169|26170|26171|26171|26172|26173|26174|38922|45569|45570|45571|45572|45572|45573|45574|139149|139150|139152|139153|139153|193420|209070|257843|257844|260329|272093|360647|360647|380065|380066|411388|411388|438442|446680|471605|487893|487984|488052|488054|488054|534824|534891|535002|535004|535176|539188|572504|572507|572514|573887|573889|574738|574741|575421|575422|575423|575424|621694|626360|626361|626362|626363|650078|650079|650080|650081|650082|650083|650084|650085|650086|650087|653787|653788|653789|685015|685016|689515|689516|689517|689518|743358|786849|821506|821507|821509|822226|822334|822335|850091|850092|850093|850094|850095|850096|850097|850098|850099|850100|850101|850102|850103|850104|858661|917576|929746|929747|929748|929749|929750|929751|929752|939609|939610|939611|951813|951814|951815|959310|959311|965873", "text": "Wiskott-Aldrich syndrome" }, { - "baseId": "26154|26162|26164|26171|38921|38922|38922|45569|45570|45572|45573|139149|139150|139152|139152|139153|193420|209070|231093|257843|257844|260329|272093|360647|380066|411388|438442|446680|446681|471605|488054|534824|534891|535002|535004|535176|572504|572507|572514|573887|573889|574738|574741|575421|575422|575423|575424|650078|650079|650080|650081|650082|650083|650084|650085|650086|650087|653787|653788|653789|685015|685016|689515|689516|689517|689518|743358|786849|792462|792463|821506|821507|821509|822226|850091|850092|850093|850094|850095|850096|850097|850098|850099|850100|850101|850102|850103|850104|929746|929747|929748|929749|929750|929751|929752|939609|939610|939611|951813|951814|951815|959310|959311|971207|980208", + "upstreamId": "26154|26162|26164|26171|38921|38922|38922|45569|45570|45572|45573|139149|139150|139152|139152|139153|193420|209070|231093|257843|257844|260329|272093|360647|380066|411388|438442|446680|446681|471605|488054|534824|534891|535002|535004|535176|572504|572507|572514|573887|573889|574738|574741|575421|575422|575423|575424|650078|650079|650080|650081|650082|650083|650084|650085|650086|650087|653787|653788|653789|685015|685016|689515|689516|689517|689518|743358|786849|792462|792463|821506|821507|821509|822226|850091|850092|850093|850094|850095|850096|850097|850098|850099|850100|850101|850102|850103|850104|929746|929747|929748|929749|929750|929751|929752|939609|939610|939611|951813|951814|951815|959310|959311|971207|980208", "text": "X-linked severe congenital neutropenia" }, { - "baseId": "26154|26155|26156|26157|26162|26162|26168|26171|38922|45569|45570|45572|45573|45573|139149|139150|139152|139153|193420|209070|257843|257844|260329|260329|272093|360647|380066|411388|438442|446680|471605|487890|488054|488054|534824|534891|535002|535004|535176|572504|572507|572514|573887|573889|574738|574741|575421|575422|575423|575424|650078|650079|650080|650081|650082|650083|650084|650085|650086|650087|653787|653788|653789|685015|685016|689515|689516|689517|689518|743358|786849|818375|821506|821507|821509|822226|850091|850092|850093|850094|850095|850096|850097|850098|850099|850100|850101|850102|850103|850104|929746|929747|929748|929749|929750|929751|929752|939609|939610|939611|951813|951814|951815|959310|959311", + "upstreamId": "26154|26155|26156|26157|26162|26162|26168|26171|38922|45569|45570|45572|45573|45573|139149|139150|139152|139153|193420|209070|257843|257844|260329|260329|272093|360647|380066|411388|438442|446680|471605|487890|488054|488054|534824|534891|535002|535004|535176|572504|572507|572514|573887|573889|574738|574741|575421|575422|575423|575424|650078|650079|650080|650081|650082|650083|650084|650085|650086|650087|653787|653788|653789|685015|685016|689515|689516|689517|689518|743358|786849|818375|821506|821507|821509|822226|850091|850092|850093|850094|850095|850096|850097|850098|850099|850100|850101|850102|850103|850104|929746|929747|929748|929749|929750|929751|929752|939609|939610|939611|951813|951814|951815|959310|959311", "text": "X-linked thrombocytopenia with normal platelets" }, { - "baseId": "26161", + "upstreamId": "26161", "text": "Wiskott-Aldrich syndrome, attenuated" }, { - "baseId": "26165|26166", + "upstreamId": "26165|26166", "text": "Thrombocytopenia, X-linked, intermittent" }, { - "baseId": "26175|26176|26177|26178|26179|26180|26181|26182|26183|26184|26185", + "upstreamId": "26175|26176|26177|26178|26179|26180|26181|26182|26183|26184|26185", "text": "Amelogenesis imperfecta, type 1E" }, { - "baseId": "26186", + "upstreamId": "26186", "text": "Choroideremia, Salla type" }, { - "baseId": "26187|26188|26189|26190|26191|26192|26193|26195|48408|70863|104603|152796|187074|195885|265129|269993|274635|354188|358694|380133|434442|446803|623370|623371|623779|689584|689585|694963|694964|694966|694968|695913|695914|717876|786939|792514|792515|792516|792517|800325|800661|800662|800663|800709|801497|801498|801499|801500|801501|850345|920074|959378|980122|980123|980124|980125", + "upstreamId": "26187|26188|26189|26190|26191|26192|26193|26195|48408|70863|104603|152796|187074|195885|265129|269993|274635|354188|358694|380133|434442|446803|623370|623371|623779|689584|689585|694963|694964|694966|694968|695913|695914|717876|786939|792514|792515|792516|792517|800325|800661|800662|800663|800709|801497|801498|801499|801500|801501|850345|920074|959378|980122|980123|980124|980125", "text": "Choroideremia" }, { - "baseId": "26196|26198|26199|26200|26201|26202|26203|26204|26205|26206|26207|26208|26209|44475|44476|44477|44478|271617|378901|424451|433402|472066|508948|508949|534547|534636|534871|535049|573597|574313|574314|574317|574319|621678|621878|624712|649724|649725|649726|649727|649728|653301|653378|653494|729427|743160|758303|758305|773777|786708|818400|821561|849675|849676|849677|849678|849679|849680|849681|849682|849683|939451|939452|939453|951623|951624|951625|964569|972613", + "upstreamId": "26196|26198|26199|26200|26201|26202|26203|26204|26205|26206|26207|26208|26209|44475|44476|44477|44478|271617|378901|424451|433402|472066|508948|508949|534547|534636|534871|535049|573597|574313|574314|574317|574319|621678|621878|624712|649724|649725|649726|649727|649728|653301|653378|653494|729427|743160|758303|758305|773777|786708|818400|821561|849675|849676|849677|849678|849679|849680|849681|849682|849683|939451|939452|939453|951623|951624|951625|964569|972613", "text": "Hyper-IgM syndrome type 1" }, { - "baseId": "26210|26211|26212|26213|26214|26215|26216|26217|26218|26219|44694|51441|51442|51443|51444|51446|51448|98350|176796|178262|178291|195204|198541|198543|198545|198546|198549|198550|198551|224585|231344|231345|236821|236822|243723|243778|243779|264819|265324|269284|269369|270689|273723|274394|274742|274863|377994|379996|404179|404492|411198|415752|426729|426731|426732|426734|426737|438475|442404|471411|471836|472104|472105|489682|490413|492103|534655|534658|534737|534740|534763|535110|535112|535113|573442|573733|574371|575278|608976|609159|621689|649878|649879|649880|649881|649882|653353|653729|653731|656755|684976|689435|689436|694842|758387|758388|773911|773913|773914|786753|786754|792171|821488|821493|849825|849826|849827|849828|849829|849830|849831|849832|852474|853032|929628|929629|939502|939503|939504|951684|951685|959205|959206|959207|959208|963192", + "upstreamId": "26210|26211|26212|26213|26214|26215|26216|26217|26218|26219|44694|51441|51442|51443|51444|51446|51448|98350|176796|178262|178291|195204|198541|198543|198545|198546|198549|198550|198551|224585|231344|231345|236821|236822|243723|243778|243779|264819|265324|269284|269369|270689|273723|274394|274742|274863|377994|379996|404179|404492|411198|415752|426729|426731|426732|426734|426737|438475|442404|471411|471836|472104|472105|489682|490413|492103|534655|534658|534737|534740|534763|535110|535112|535113|573442|573733|574371|575278|608976|609159|621689|649878|649879|649880|649881|649882|653353|653729|653731|656755|684976|689435|689436|694842|758387|758388|773911|773913|773914|786753|786754|792171|821488|821493|849825|849826|849827|849828|849829|849830|849831|849832|852474|853032|929628|929629|939502|939503|939504|951684|951685|959205|959206|959207|959208|963192", "text": "Emery-Dreifuss muscular dystrophy 1, X-linked" }, { - "baseId": "26220|26222|26223|961991", + "upstreamId": "26220|26222|26223|961991", "text": "Properdin deficiency, X-linked" }, { - "baseId": "26221", + "upstreamId": "26221", "text": "Properdin deficiency, type II" }, { - "baseId": "26224", + "upstreamId": "26224", "text": "Properdin deficiency, type III" }, { - "baseId": "26225|26229|26231|26232|26233|26234|26236|26244|102349|167588|167589|167592|167594|167596|167604|167607|167613|209010|209011|209012|209013|209014|209017|209018|209022|209024|209026|209312|232150|271260|430771|573774|676972|983472", + "upstreamId": "26225|26229|26231|26232|26233|26234|26236|26244|102349|167588|167589|167592|167594|167596|167604|167607|167613|209010|209011|209012|209013|209014|209017|209018|209022|209024|209026|209312|232150|271260|430771|573774|676972|983472", "text": "Lissencephaly 2, X-linked" }, { - "baseId": "26225|26226|26226|26233|26237|26238|26238|102345|102347|102348|102348|102349|102350|140124|166526|167591|167601|167602|167603|167606|167608|167610|192561|192562|192564|194533|209009|209021|209024|209028|225842|232150|237434|243787|272619|364009|378138|379290|379292|404176|404510|404513|404534|404534|404535|411306|430770|470657|470658|471843|471844|472116|472117|472118|508145|508522|512648|534398|534701|534706|534707|534789|534792|534801|534806|535127|535128|572392|572394|573773|573774|573774|573776|574494|574525|575383|575384|580902|580943|586384|609301|614670|649936|649937|649938|649939|649940|649941|649942|649943|649944|649945|649946|653385|653637|689455|689457|689459|690269|773967|806383|806383|822223|849914|849915|849916|849917|849918|860837|917753|929675|929676|929677|929678|929679|929680|929681|939544|939545|939546|951723|951724|951725|951726|951727|951728|951729|951730|951731|951732|951733|959236|959237|977301", + "upstreamId": "26225|26226|26226|26233|26237|26238|26238|102345|102347|102348|102348|102349|102350|140124|166526|167591|167601|167602|167603|167606|167608|167610|192561|192562|192564|194533|209009|209021|209024|209028|225842|232150|237434|243787|272619|364009|378138|379290|379292|404176|404510|404513|404534|404534|404535|411306|430770|470657|470658|471843|471844|472116|472117|472118|508145|508522|512648|534398|534701|534706|534707|534789|534792|534801|534806|535127|535128|572392|572394|573773|573774|573774|573776|574494|574525|575383|575384|580902|580943|586384|609301|614670|649936|649937|649938|649939|649940|649941|649942|649943|649944|649945|649946|653385|653637|689455|689457|689459|690269|773967|806383|806383|822223|849914|849915|849916|849917|849918|860837|917753|929675|929676|929677|929678|929679|929680|929681|939544|939545|939546|951723|951724|951725|951726|951727|951728|951729|951730|951731|951732|951733|959236|959237|977301", "text": "Mental retardation, with or without seizures, ARX-related, X-linked" }, { - "baseId": "26226|232150|573774|806383", + "upstreamId": "26226|232150|573774|806383", "text": "Partington syndrome" }, { - "baseId": "26239|232150|573774|806383", + "upstreamId": "26239|232150|573774|806383", "text": "Corpus callosum agenesis-abnormal genitalia syndrome" }, { - "baseId": "26240|430769", + "upstreamId": "26240|430769", "text": "Hydranencephaly with abnormal genitalia" }, { - "baseId": 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"text": "Duchenne muscular dystrophy" }, { - "baseId": "26247|26330|488359", + "upstreamId": "26247|26330|488359", "text": "Becker muscular dystrophy, atypical" }, { - "baseId": "26252|26265|26266|26269|26276|26280|26287|26308|26315|26316|26319|26322|26325|26327|38917|100328|100376|100476|100484|100641|100657|100663|100676|100683|100705|100761|100763|140808|140808|140809|140820|171247|171248|172184|175867|177179|190826|192114|193039|198573|227452|243790|259052|266735|268525|273828|361092|361267|361273|361890|361891|404548|434711|470740|470754|471519|485824|485825|485826|485827|488725|492088|511143|513395|535156|550770|550778|574640|588159|611449|613947|649954|743300|792329|792336|801559|816418|816419|816420|816432|939579|961398|964604|972405|972406|972407|972408|972409|972410|972411|972412|972413|972414|972415|972416|972417|972418|972419|972420|972421|972422|972423|972424|972425|972426|972427|972428|972429|972430|972431|972432|972433|972434|972435|972436|972437|972438", + "upstreamId": 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+ "upstreamId": "26270|26306|26307|26308|26318|26320|26321|26324|26327|38917|100296|100319|100322|100328|100333|100336|100346|100353|100361|100367|100371|100373|100376|100382|100387|100394|100395|100410|100413|100416|100424|100428|100439|100448|100454|100476|100487|100500|100503|100504|100515|100516|100517|100518|100532|100537|100542|100548|100556|100557|100558|100574|100575|100579|100583|100602|100603|100641|100642|100647|100656|100657|100657|100665|100667|100671|100676|100683|100684|100705|100709|100716|100744|100754|171247|172184|175867|177179|177586|189047|190826|191904|192008|192114|192653|193039|193288|195522|198564|198572|198573|198582|198589|198591|198593|227852|231251|243790|243791|243795|243801|257810|259052|259180|266198|266626|266724|266740|268949|268969|269184|269255|269456|269576|269952|270216|273824|273828|274569|274769|339148|339149|339150|339152|339153|339159|339160|339164|339167|348271|348676|348677|348683|348684|348687|348688|348694|348695|348701|348702|348704|348706|348708|348709|348710|348715|348716|348717|348718|348724|352198|352199|352200|352201|352202|352203|352204|352205|352206|352207|352209|352218|352220|352831|352832|352833|352834|352835|352836|352837|352838|352839|352840|352841|352842|352843|352844|352845|361092|361095|361096|361890|361891|378257|378274|404223|404247|404548|470740|470754|471508|471854|508085|508551|510939|510940|511143|514135|534733|534880|538509|550778|572451|574640|611449|649974|649978|677126|689472|689476|689483|694861|694871|706211|758468|902999|903000|903001|903002|903003|903004|903005|903006|903007|903008|903009|903010|903011|903012|903013|903014|903015|903016|903017|903018|903019|903020|903021|903022|903023|903024|903025|903026|903027|903028|903029|903030|903031|903032|903033|903472|903473|920009|920010|920011|920012|920013|920448|920449", "text": "Dilated cardiomyopathy 3B" }, { - "baseId": "26275", + "upstreamId": "26275", "text": "Duchenne muscular dystrophy, mental retardation, and absence of erg b-wave" }, { - "baseId": "26277|26285|26313", + "upstreamId": "26277|26285|26313", "text": "Intermediate muscular dystrophy" }, { - "baseId": "26312", + "upstreamId": "26312", "text": "X-linked DMD-related dystrophinopathy" }, { - "baseId": 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+ "upstreamId": 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"text": "Adrenoleukodystrophy" }, { - "baseId": "26349|26350", + "upstreamId": "26349|26350", "text": "Addison's disease" }, { - "baseId": "26357|26358|26359|26360|26361|26362|26363|26364|26365|34245|34246|792099|918496", + "upstreamId": "26357|26358|26359|26360|26361|26362|26363|26364|26365|34245|34246|792099|918496", "text": "Deafness dystonia syndrome" }, { - "baseId": "26366", + "upstreamId": "26366", "text": "Asperger syndrome X-linked 1" }, { - "baseId": "26366|920459", + "upstreamId": "26366|920459", "text": "Autism, susceptibility to, X-linked 1" }, { - "baseId": "26367|26368|26369|26370|26371|26372|26373|26374|26375", + "upstreamId": "26367|26368|26369|26370|26371|26372|26373|26374|26375", "text": "Cleft palate with ankyloglossia" }, { - "baseId": "26376|339549|339550|339552|339558|339559|339561|349035|349041|349045|349047|352446|352447|352947|352948|352949|352950|352951|439183|717870|729719|743485|792511|903209|903210|903211|903212|903213|903214|903215|903484|903485|903486", + "upstreamId": "26376|339549|339550|339552|339558|339559|339561|349035|349041|349045|349047|352446|352447|352947|352948|352949|352950|352951|439183|717870|729719|743485|792511|903209|903210|903211|903212|903213|903214|903215|903484|903485|903486", "text": "Cleft palate with or without ankyloglossia, X-linked" }, { - "baseId": "26377|26378|26379|191793|205357|205358|362397|411119|415736|439626|470456|470461|471241|495790|508486|514278|535007|535008|615948|649658|653901|729380|792117|849584|858584|951583|964567|976677", + "upstreamId": "26377|26378|26379|191793|205357|205358|362397|411119|415736|439626|470456|470461|471241|495790|508486|514278|535007|535008|615948|649658|653901|729380|792117|849584|858584|951583|964567|976677", "text": "Syndromic X-linked mental retardation, Cabezas type" }, { - "baseId": "26378|39226|49024|178380|181426|181431|181448|181453|203766|226235|226236|263192|263224|263257|263264|263284|263332|263344|263346|263360|263364|263405|263996|264749|360870|360912|361101|408757|513978|514048|514112|514124|514176|514199|514211|551271|551272|576328|590545|609036|609079|610516|610519|622034|622207|622834|623603|678949|905852|905853|905854|961035|971289|971411", + "upstreamId": "26378|39226|49024|178380|181426|181431|181448|181453|203766|226235|226236|263192|263224|263257|263264|263284|263332|263344|263346|263360|263364|263405|263996|264749|360870|360912|361101|408757|513978|514048|514112|514124|514176|514199|514211|551271|551272|576328|590545|609036|609079|610516|610519|622034|622207|622834|623603|678949|905852|905853|905854|961035|971289|971411", "text": "Abnormal facial shape" }, { - "baseId": "26381|26382|26383|26384|26385|26387|26388|26390|26391|26392|26393|26394|26395|26396|26397|26398|26399|26400|26401|26402|26403|26404|26405|26405|26406|26407|26408|26409|26411|26412|26413|26414|26415|26416|26417|26418|26419|26421|26422|26423|26424|26425|26426|26427|26428|26429|26430|26431|26432|26433|26434|26435|26436|44421|44422|44423|44424|44425|44426|44427|44428|44429|44430|192073|237392|237392|257719|265134|270564|338671|338673|338675|338677|348274|348276|351929|351930|351932|352708|485806|485808|487874|488019|488067|553416|610420|621657|621658|621659|621660|621875|649592|758201|792100|792101|792102|902683|902684|902685|902686|902687|917331|917332|917333|961900", + "upstreamId": "26381|26382|26383|26384|26385|26387|26388|26390|26391|26392|26393|26394|26395|26396|26397|26398|26399|26400|26401|26402|26403|26404|26405|26405|26406|26407|26408|26409|26411|26412|26413|26414|26415|26416|26417|26418|26419|26421|26422|26423|26424|26425|26426|26427|26428|26429|26430|26431|26432|26433|26434|26435|26436|44421|44422|44423|44424|44425|44426|44427|44428|44429|44430|192073|237392|237392|257719|265134|270564|338671|338673|338675|338677|348274|348276|351929|351930|351932|352708|485806|485808|487874|488019|488067|553416|610420|621657|621658|621659|621660|621875|649592|758201|792100|792101|792102|902683|902684|902685|902686|902687|917331|917332|917333|961900", "text": "X-linked agammaglobulinemia" }, { - "baseId": "26381|26387|26402|26416|26422|29848|29849|29851|29852|166058|416155|433631|433632|485798|485799|485800|485801|485802|485803|485804|485805|485806|485807|485808|485809|485810|578566|799759|799760|961903", + "upstreamId": "26381|26387|26402|26416|26422|29848|29849|29851|29852|166058|416155|433631|433632|485798|485799|485800|485801|485802|485803|485804|485805|485806|485807|485808|485809|485810|578566|799759|799760|961903", "text": "Autosomal recessive agammaglobulinemia 1" }, { - "baseId": "26381|26386|26387|26397|26402|26405|26410|26415|26416|26417|26420|26422|44425|44426|192073|237392|237392|257719|265134|270564|338671|338673|338675|338677|348276|351929|351930|351932|352708|363082|363083|378894|446452|470443|470445|472042|472043|485801|485806|534429|534455|534459|534978|572151|573508|573515|574234|574235|574236|574241|574243|621657|621660|621875|624703|649591|649592|649593|649594|649595|649596|649597|649598|649599|649600|649601|649602|649603|649604|649605|649606|649607|649608|649609|649610|649611|649612|649613|649614|649615|653432|653680|729328|743061|743062|758201|821540|821541|849509|849510|849511|849512|849513|849514|849515|849516|849517|849518|849519|849520|852450|852533|852954|852955|902683|902684|902685|902686|902687|917333|920432|929528|929529|929530|939384|939385|939386|939387|939388|940538|940539|940540|940541|951558|951559|951560|951561|959147|960353|960970", + "upstreamId": "26381|26386|26387|26397|26402|26405|26410|26415|26416|26417|26420|26422|44425|44426|192073|237392|237392|257719|265134|270564|338671|338673|338675|338677|348276|351929|351930|351932|352708|363082|363083|378894|446452|470443|470445|472042|472043|485801|485806|534429|534455|534459|534978|572151|573508|573515|574234|574235|574236|574241|574243|621657|621660|621875|624703|649591|649592|649593|649594|649595|649596|649597|649598|649599|649600|649601|649602|649603|649604|649605|649606|649607|649608|649609|649610|649611|649612|649613|649614|649615|653432|653680|729328|743061|743062|758201|821540|821541|849509|849510|849511|849512|849513|849514|849515|849516|849517|849518|849519|849520|852450|852533|852954|852955|902683|902684|902685|902686|902687|917333|920432|929528|929529|929530|939384|939385|939386|939387|939388|940538|940539|940540|940541|951558|951559|951560|951561|959147|960353|960970", "text": "X-linked agammaglobulinemia with growth hormone deficiency" }, { - "baseId": "26384|28188|29043|33344|39043|45898|76319|94255|125897|153737|205148|226599|359705|409927|424449|472216|549127|557045|570568|620059|621659|624766|650944|791014|799281|801876|815884|815885|815886|815887|815888|815889|815890|815891|815892|815893|815894|815895|815898|815901|815903|815904|815905|815906|815907|815908|815909|815910|815911|815912|815913|815914|815915|815916|815917|815919|815921|815922|815923|815924|815928|815929|815930|815931|815932|815933|815934|815935|815936|815937|815938|815939|815940|815941|815942|815944|815945|815947|815948|815949|815950|815951|815952|815953|815954", + "upstreamId": "26384|28188|29043|33344|39043|45898|76319|94255|125897|153737|205148|226599|359705|409927|424449|472216|549127|557045|570568|620059|621659|624766|650944|791014|799281|801876|815884|815885|815886|815887|815888|815889|815890|815891|815892|815893|815894|815895|815898|815901|815903|815904|815905|815906|815907|815908|815909|815910|815911|815912|815913|815914|815915|815916|815917|815919|815921|815922|815923|815924|815928|815929|815930|815931|815932|815933|815934|815935|815936|815937|815938|815939|815940|815941|815942|815944|815945|815947|815948|815949|815950|815951|815952|815953|815954", "text": "Inherited Immunodeficiency Diseases" }, { - "baseId": "26389", + "upstreamId": "26389", "text": "Hypogammaglobulinemia, X-linked" }, { - "baseId": "26438|26439|26440|195769|208853|208854|411112|481502|538503|575321|689331|792116|798802|905860|976676", + "upstreamId": "26438|26439|26440|195769|208853|208854|411112|481502|538503|575321|689331|792116|798802|905860|976676", "text": "Mental retardation, syndromic 14, X-linked" }, { - "baseId": "26441|26442|26443|26444|26445|132417|513685|581217|920006|920007|920547|920548|920549", + "upstreamId": "26441|26442|26443|26444|26445|132417|513685|581217|920006|920007|920547|920548|920549", "text": "IFAP syndrome with or without BRESHECK syndrome" }, { - "baseId": "26446|26447|26448|26449|26450|26451|26452|26453|26454|26455|26456|26457|26458|134557|209083|209084|430820|430821|430822|470878|534837|534899|535026|540039|572527|572529|573903|573904|574750|614509|650102|650103|650104|650105|650106|654154|679834|706261|717811|717812|729636|743383|786860|822228|850160|850161|850162|850163|850164|850165|851974|929764|929765|929766|929767|929768|929769|929770|939637|939638|941312|951848|951849|951850|951851|980491", + "upstreamId": "26446|26447|26448|26449|26450|26451|26452|26453|26454|26455|26456|26457|26458|134557|209083|209084|430820|430821|430822|470878|534837|534899|535026|540039|572527|572529|573903|573904|574750|614509|650102|650103|650104|650105|650106|654154|679834|706261|717811|717812|729636|743383|786860|822228|850160|850161|850162|850163|850164|850165|851974|929764|929765|929766|929767|929768|929769|929770|939637|939638|941312|951848|951849|951850|951851|980491", "text": "Insulin-dependent diabetes mellitus secretory diarrhea syndrome" }, { - "baseId": "26459|26460|26461|26462|26463|26464|192535|339181|339183|339192|339195|339198|339204|348731|352228|352230|352846|352847|352848|352849|352850|352851|587381|774037|903037|903038|903039|903040|903041|903042|903043|903044|903045|903046|903047|920026", + "upstreamId": "26459|26460|26461|26462|26463|26464|192535|339181|339183|339192|339195|339198|339204|348731|352228|352230|352846|352847|352848|352849|352850|352851|587381|774037|903037|903038|903039|903040|903041|903042|903043|903044|903045|903046|903047|920026", "text": "Congenital stationary night blindness, type 1A" }, { - "baseId": "26465|26466|26467|26468|26469|26470|34117|34119|170077|170078|170079|170081|170082|170085|208917|788950|792136", + "upstreamId": "26465|26466|26467|26468|26469|26470|34117|34119|170077|170078|170079|170081|170082|170085|208917|788950|792136", "text": "Child syndrome" }, { - "baseId": "26471|133896|208881|446508", + "upstreamId": "26471|133896|208881|446508", "text": "Mental retardation 46, X-linked" }, { - "baseId": "26472|26473|26475|26476|26477|26478|26479|26480|141661|141662|187961|213507|243722|257760|263864|338963|338964|348520|348522|348525|348530|348531|352091|352092|352774|352775|352776|404133|471742|471745|535052|535056|536053|536054|536055|536056|536057|572245|573607|573609|574323|649730|649731|805125|849690|849691|902817|902818|902819|902820|902821|902822|902823|902824|902825|902826|902827|902828|902829|929580|939455|951626|951627", + "upstreamId": "26472|26473|26475|26476|26477|26478|26479|26480|141661|141662|187961|213507|243722|257760|263864|338963|338964|348520|348522|348525|348530|348531|352091|352092|352774|352775|352776|404133|471742|471745|535052|535056|536053|536054|536055|536056|536057|572245|573607|573609|574323|649730|649731|805125|849690|849691|902817|902818|902819|902820|902821|902822|902823|902824|902825|902826|902827|902828|902829|929580|939455|951626|951627", "text": "Heterotaxy, visceral, 1, X-linked" }, { - "baseId": "26474|26478", + "upstreamId": "26474|26478", "text": "Congenital heart defects, multiple types, 1, X-linked" }, { - "baseId": "26478|38910|99372|187961|194866|195603|205672|245218|245222|257770|338963|338964|338984|338985|338987|338992|338998|339001|339005|348520|348522|348525|348530|348531|348561|348562|348579|352091|352092|352098|352099|352102|352774|352775|352776|352780|352781|352782|352783|352784|352785|352786|404139|404461|470515|471328|534596|575340|684959|902817|902818|902819|902820|902821|902822|902823|902824|902825|902826|902827|902828|902829|902835|902836|902837|902838|902839|902840|902841|902842|902843|902844|902845", + "upstreamId": "26478|38910|99372|187961|194866|195603|205672|245218|245222|257770|338963|338964|338984|338985|338987|338992|338998|339001|339005|348520|348522|348525|348530|348531|348561|348562|348579|352091|352092|352098|352099|352102|352774|352775|352776|352780|352781|352782|352783|352784|352785|352786|404139|404461|470515|471328|534596|575340|684959|902817|902818|902819|902820|902821|902822|902823|902824|902825|902826|902827|902828|902829|902835|902836|902837|902838|902839|902840|902841|902842|902843|902844|902845", "text": "VACTERL association, X-linked, with or without hydrocephalus" }, { - "baseId": "26478|187961|338963|338964|348520|348522|348525|348530|348531|352091|352092|352774|352775|352776", + "upstreamId": "26478|187961|338963|338964|348520|348522|348525|348530|348531|352091|352092|352774|352775|352776", "text": "Congenital heart defects 1, nonsyndromic, 1" }, { - "baseId": "26481|26482|26483|26484|26485|101001|153772|199813|248741|265040|430846|578597|801552|961794|964624", + "upstreamId": "26481|26482|26483|26484|26485|101001|153772|199813|248741|265040|430846|578597|801552|961794|964624", "text": "HSD10 disease" }, { - "baseId": "26486|26487|26488|26489|26490|26491|26496|26497|360602|446591|610414|614505|905011|905015|919992|963310", + "upstreamId": "26486|26487|26488|26489|26490|26491|26496|26497|360602|446591|610414|614505|905011|905015|919992|963310", "text": "Incontinentia pigmenti syndrome" }, { - "baseId": "26489|26496|446591|905011|905015", + "upstreamId": "26489|26496|446591|905011|905015", "text": "ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED" }, { - "baseId": "26492|26493|26495|26498|26499|26500|26501|26502|26505|45041|45042|45043|45044|45045|45046|79130|360602|424453|614505", + "upstreamId": "26492|26493|26495|26498|26499|26500|26501|26502|26505|45041|45042|45043|45044|45045|45046|79130|360602|424453|614505", "text": "Ectodermal dysplasia and immunodeficiency 1" }, { - "baseId": "26503|614505", + "upstreamId": "26503|614505", "text": "Immunodeficiency without anhidrotic ectodermal dysplasia" }, { - "baseId": "26504|26506|26507|26508|79125|79126|614505|905009|905010|905014", + "upstreamId": "26504|26506|26507|26508|79125|79126|614505|905009|905010|905014", "text": "Familial atypical mycobacteriosis, type 1, X-linked" }, { - "baseId": "26509|26510|26511|26513|140225|140226|257851|257853|257854|257855|339425|352342|352343|352916|620699|903111|903112|903113|903114|961490|961491|961492", + "upstreamId": "26509|26510|26511|26513|140225|140226|257851|257853|257854|257855|339425|352342|352343|352916|620699|903111|903112|903113|903114|961490|961491|961492", "text": "Ovarian dysgenesis 2" }, { - "baseId": "26510|26511|26512|26513", + "upstreamId": "26510|26511|26512|26513", "text": "Premature ovarian failure 4" }, { - "baseId": "26515|26516|26517|26518|38904|97547|101275|142903|142904|142906|142907|142909|142910|142911|142912|142913|142914|169937|169938|169939|169940|169941|169942|203981|203985|203986|203988|245213|362395|377787|404120|404453|411132|426407|471285|471288|471722|471733|471736|472064|472065|508507|534533|572224|573553|575333|580775|613522|615978|649712|649713|649714|649715|649716|758301|773769|792124|792125|794082|798807|802043|821559|849665|849666|929573|929574|929575|929576|939442|939443|939444|951617|951618|951619|960973|976678|976679", + "upstreamId": "26515|26516|26517|26518|38904|97547|101275|142903|142904|142906|142907|142909|142910|142911|142912|142913|142914|169937|169938|169939|169940|169941|169942|203981|203985|203986|203988|245213|362395|377787|404120|404453|411132|426407|471285|471288|471722|471733|471736|472064|472065|508507|534533|572224|573553|575333|580775|613522|615978|649712|649713|649714|649715|649716|758301|773769|792124|792125|794082|798807|802043|821559|849665|849666|929573|929574|929575|929576|939442|939443|939444|951617|951618|951619|960973|976678|976679", "text": "Christianson syndrome" }, { - "baseId": "26519|26520|26521|38899|209030|265258|339130|339135|339137|339138|339141|348672|352192|352194|352196|352825|352826|352827|352828|352829|352830|583205|611448|611470|792253|801566|902994|902995|902996|902997|902998|903470|903471|964603|971202", + "upstreamId": "26519|26520|26521|38899|209030|265258|339130|339135|339137|339138|339141|348672|352192|352194|352196|352825|352826|352827|352828|352829|352830|583205|611448|611470|792253|801566|902994|902995|902996|902997|902998|903470|903471|964603|971202", "text": "Intellectual disability, X-linked 21" }, { - "baseId": "26522|26523|26524|26525|26526|26527|26528|26529|26530|26531|170113|170114|170115|170116|170117|170118|170119|170120|170121|170122|170123|170124|170125|170126|170127|170128|170129|170130|170131|170132|170133|170134|170135|170136|209064|209065|209066|209067|209068|209069|792460|792461|798815|977305", + "upstreamId": "26522|26523|26524|26525|26526|26527|26528|26529|26530|26531|170113|170114|170115|170116|170117|170118|170119|170120|170121|170122|170123|170124|170125|170126|170127|170128|170129|170130|170131|170132|170133|170134|170135|170136|209064|209065|209066|209067|209068|209069|792460|792461|798815|977305", "text": "Chondrodysplasia punctata 2 X-linked dominant" }, { - "baseId": "26532|170113|205599|205600", + "upstreamId": "26532|170113|205599|205600", "text": "MEND syndrome" }, { - "baseId": 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+ "upstreamId": 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"text": "Early infantile epileptic encephalopathy 2" }, { - "baseId": "26535|26536|26539|26541|26871|26872|153502|153506|153511|153512|153513|153514|153515|153517|153519|153526|153529|153533|153541|153544|153549|153550|153555|153561|153566|165870|165873|165878|165884|166445|187437|187438|187442|187444|187450|187574|187576|187587|187589|187596|187599|187601|187603|187604|187606|187610|187612|187613|187614|187615|187617|187619|187620|187628|187629", + "upstreamId": "26535|26536|26539|26541|26871|26872|153502|153506|153511|153512|153513|153514|153515|153517|153519|153526|153529|153533|153541|153544|153549|153550|153555|153561|153566|165870|165873|165878|165884|166445|187437|187438|187442|187444|187450|187574|187576|187587|187589|187596|187599|187601|187603|187604|187606|187610|187612|187613|187614|187615|187617|187619|187620|187628|187629", "text": "Atypical Rett syndrome" }, { - "baseId": 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"text": "Angelman syndrome-like" }, { - "baseId": 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"text": "Rett syndrome" }, { - "baseId": "26546|26547|26548|26549|26551|26552|26553|26554|26555|26556|132622|209358|338927|338931|338945|338956|338958|338959|338962|348509|348514|348518|352071|352076|352077|352078|352087|352089|352765|352766|352767|352768|352770|352771|352772|352773|612433|612434|682673|792690|902791|902792|902793|902794|902795|902796|902797|902798|902799|902800|902801|902802|902803|902804|902805|902806|902807|902808|902809|902810|902811|902812|902813|902814|902815|902816|903459|903460|919978", + "upstreamId": "26546|26547|26548|26549|26551|26552|26553|26554|26555|26556|132622|209358|338927|338931|338945|338956|338958|338959|338962|348509|348514|348518|352071|352076|352077|352078|352087|352089|352765|352766|352767|352768|352770|352771|352772|352773|612433|612434|682673|792690|902791|902792|902793|902794|902795|902796|902797|902798|902799|902800|902801|902802|902803|902804|902805|902806|902807|902808|902809|902810|902811|902812|902813|902814|902815|902816|903459|903460|919978", "text": "Spondyloepiphyseal dysplasia tarda" }, { - "baseId": "26557|26558|38897|38898|132677|132678|193667|217197|225825|259238|920055", + "upstreamId": "26557|26558|38897|38898|132677|132678|193667|217197|225825|259238|920055", "text": "X-Linked mental retardation 90" }, { - "baseId": 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+ "upstreamId": "26559|26559|76591|101147|101153|101154|101155|101156|135035|135036|135039|138375|138376|138377|177599|177600|177601|177829|177830|177831|193566|194170|194628|194649|209154|209160|209161|209163|210545|210547|210548|210550|210550|210551|210555|210556|210565|210566|210567|210573|210576|210578|222885|227160|243820|243821|247364|247365|247366|247367|259189|259197|259200|378579|378595|378596|378607|379377|379378|379380|379508|379520|379521|380112|404002|404270|404284|404288|404584|404586|404587|404588|404590|404591|404593|411464|411468|411469|415814|424621|430907|438808|470946|470954|470967|470969|471683|471690|471692|471698|471699|471705|471966|471967|471969|471970|471972|471973|472190|472191|472192|472193|472194|472195|472196|472197|485859|490092|490095|508629|508644|508647|510970|510978|510979|534913|534917|534927|534948|535059|535061|535191|551347|572556|572558|572560|573972|573974|573980|573985|581033|610411|611457|611458|650173|650174|650175|650176|650177|650178|650179|650180|650181|650182|650183|650184|650185|650186|650187|650188|650189|650190|650191|650192|653474|653476|653793|653908|656792|685026|685029|689538|689544|689546|694918|694920|694921|694923|694924|694926|788314|792495|792496|821796|821797|850230|850231|850232|850233|850234|850235|850236|850237|850238|850239|850240|852526|906118|929799|929800|929801|939667|939668|939669|939670|939671|951872|951873|951874|951875|959338|959339|959340|959341|960990|961640", "text": "FG syndrome 1" }, { - "baseId": "26559|26560|135035|210548|210550|210555|210565|210573|424621|551347|611457|611458|920056|920057|920458|961640|964630|971227|971228", + "upstreamId": "26559|26560|135035|210548|210550|210555|210565|210573|424621|551347|611457|611458|920056|920057|920458|961640|964630|971227|971228", "text": "X-linked mental retardation with marfanoid habitus syndrome" }, { - "baseId": "26559|59420|59421|59422|210548|210550|210555|210573|415813|424621|510982|513401|513692|551347|611457|611458|961640|963999|964000", + "upstreamId": "26559|59420|59421|59422|210548|210550|210555|210573|415813|424621|510982|513401|513692|551347|611457|611458|961640|963999|964000", "text": "Ohdo syndrome, X-linked" }, { - "baseId": "26561|26562|26563|26564|26565|26566|26567|26568|33883|33884|33885|167577|167580|167582|167585|237173|471446|508531|508961|513393|538508|649947|653313|694852|694853|695903|706197|706199|706201|778660|800303|800304|805129|821613|849919|849920|964602", + "upstreamId": "26561|26562|26563|26564|26565|26566|26567|26568|33883|33884|33885|167577|167580|167582|167585|237173|471446|508531|508961|513393|538508|649947|653313|694852|694853|695903|706197|706199|706201|778660|800303|800304|805129|821613|849919|849920|964602", "text": "X-linked chondrodysplasia punctata 1" }, { - "baseId": "26569|26570|26573|26575|38892|38894|38895|38896|167912|167913|167914|167916|167917|167918|167921|167924|167929|167932|167935|167937|167938|178395|192361|209041|209042|209046|213668|248723|361732|411363|424699|426464|427111|430786|430788|430790|430790|439692|439693|439694|495820|514314|575414|583138|610525|621037|621040|621041|626295|677470|792453|792454|792455|792456|802050|802235|816533|964613|964614|966026|966027|966048", + "upstreamId": "26569|26570|26573|26575|38892|38894|38895|38896|167912|167913|167914|167916|167917|167918|167921|167924|167929|167932|167935|167937|167938|178395|192361|209041|209042|209046|213668|248723|361732|411363|424699|426464|427111|430786|430788|430790|430790|439692|439693|439694|495820|514314|575414|583138|610525|621037|621040|621041|626295|677470|792453|792454|792455|792456|802050|802235|816533|964613|964614|966026|966027|966048", "text": "Mental retardation and microcephaly with pontine and cerebellar hypoplasia" }, { - "baseId": "26571|26572|26573|26573|26574|26575|38892|38893|430790|610525|677470|798307|920027|920451|964612", + "upstreamId": "26571|26572|26573|26573|26574|26575|38892|38893|430790|610525|677470|798307|920027|920451|964612", "text": "FG syndrome 4" }, { - "baseId": "26575|100274|100275|100277|100278|167915|167920|177311|177550|191214|191797|192004|209045|209047|226991|265958|266612|266797|268085|271800|272071|363745|379413|411370|430787|439692|470809|470810|470816|470820|471881|472152|472153|508575|534818|534868|534869|534970|535166|535167|535169|572491|573865|573868|573870|574730|574732|575413|575414|580907|587633|650051|650052|653422|706228|729593|758495|786830|821792|821793|822224|822286|850060|850061|850062|929729|929730|929731|929732|929733|939597|940561|940562|951799|951800|951801|959301|959302", + "upstreamId": "26575|100274|100275|100277|100278|167915|167920|177311|177550|191214|191797|192004|209045|209047|226991|265958|266612|266797|268085|271800|272071|363745|379413|411370|430787|439692|470809|470810|470816|470820|471881|472152|472153|508575|534818|534868|534869|534970|535166|535167|535169|572491|573865|573868|573870|574730|574732|575413|575414|580907|587633|650051|650052|653422|706228|729593|758495|786830|821792|821793|822224|822286|850060|850061|850062|929729|929730|929731|929732|929733|939597|940561|940562|951799|951800|951801|959301|959302", "text": "Mental retardation, CASK-related, X-linked" }, { - "baseId": "26576|26577|26579|26580|26582|44158|49472|49473|49474|49475|49476|49477|49478|49479|49480|49481|49482|49483|49484|49485|49486|49487|49488|49489|49490|49491|49492|49494|49495|49496|49497|49498|49499|49500|49501|49502|49503|49504|49505|49506|49507|49508|49510|49510|49511|49512|49513|49515|49516|49517|49518|49519|49520|49521|49522|49523|49524|49525|49525|49526|49529|49530|49531|49533|49534|49535|49536|49537|49538|49539|49539|49539|49540|49541|49542|49544|49545|49546|49547|49548|49549|49550|49551|49552|49553|49554|49555|49556|49557|49558|49559|49560|49562|49563|49564|49564|49565|49566|49567|49568|49570|49571|49572|49573|49574|49575|49576|49577|49578|49579|169943|169944|169945|169946|169948|169949|169950|169951|169953|186289|186295|190824|191794|191795|205331|208884|208885|213495|222882|243721|243764|260733|260734|260735|260736|260737|260738|260739|260740|260741|260742|260743|260745|260746|363655|404091|404096|404098|404102|404456|404459|404499|470391|470506|470513|471310|471312|471748|471751|471755|471990|472067|472068|472069|472070|508343|508512|511036|534556|534569|534570|535050|535051|535051|539966|550647|550648|550650|550651|550652|552268|572243|572252|573606|574322|574322|575335|575336|575337|575338|649729|649732|649733|653635|670734|677466|694789|694790|788949|816011|818369|821563|849684|849685|849686|849687|849688|849689|904072|929581|939454|939456|951628|959173|959174", + "upstreamId": "26576|26577|26579|26580|26582|44158|49472|49473|49474|49475|49476|49477|49478|49479|49480|49481|49482|49483|49484|49485|49486|49487|49488|49489|49490|49491|49492|49494|49495|49496|49497|49498|49499|49500|49501|49502|49503|49504|49505|49506|49507|49508|49510|49510|49511|49512|49513|49515|49516|49517|49518|49519|49520|49521|49522|49523|49524|49525|49525|49526|49529|49530|49531|49533|49534|49535|49536|49537|49538|49539|49539|49539|49540|49541|49542|49544|49545|49546|49547|49548|49549|49550|49551|49552|49553|49554|49555|49556|49557|49558|49559|49560|49562|49563|49564|49564|49565|49566|49567|49568|49570|49571|49572|49573|49574|49575|49576|49577|49578|49579|169943|169944|169945|169946|169948|169949|169950|169951|169953|186289|186295|190824|191794|191795|205331|208884|208885|213495|222882|243721|243764|260733|260734|260735|260736|260737|260738|260739|260740|260741|260742|260743|260745|260746|363655|404091|404096|404098|404102|404456|404459|404499|470391|470506|470513|471310|471312|471748|471751|471755|471990|472067|472068|472069|472070|508343|508512|511036|534556|534569|534570|535050|535051|535051|539966|550647|550648|550650|550651|550652|552268|572243|572252|573606|574322|574322|575335|575336|575337|575338|649729|649732|649733|653635|670734|677466|694789|694790|788949|816011|818369|821563|849684|849685|849686|849687|849688|849689|904072|929581|939454|939456|951628|959173|959174", "text": "Orofaciodigital syndrome I" }, { - "baseId": "26582|49539|535051|574322|677466|917752|980854", + "upstreamId": "26582|49539|535051|574322|677466|917752|980854", "text": "Simpson-Golabi-Behmel syndrome, type 2" }, { - "baseId": "26583|26584|44158|49539|49539|214374|214375|214376|535051|574322|677466|964709|966185|971181", + "upstreamId": "26583|26584|44158|49539|49539|214374|214375|214376|535051|574322|677466|964709|966185|971181", "text": "Joubert syndrome 10" }, { - "baseId": "26585|140023|140025|140026|140027|140028|140029|211999|212000|338837|338838|348454|348459|348460|352058|352059|352060|352749|352750|354190|379916|438582|534492|745478|745479|745483|849610|902774|902775|902776|902777|903454|903455|903456|971179", + "upstreamId": "26585|140023|140025|140026|140027|140028|140029|211999|212000|338837|338838|348454|348459|348460|352058|352059|352060|352749|352750|354190|379916|438582|534492|745478|745479|745483|849610|902774|902775|902776|902777|903454|903455|903456|971179", "text": "Combined oxidative phosphorylation deficiency 6" }, { - "baseId": "26586|26588|195627|677465|805046", + "upstreamId": "26586|26588|195627|677465|805046", "text": "Scapuloperoneal myopathy, X-linked dominant" }, { - "baseId": "26587|26588|26598|26599|195626|195627|195628|224581|224582|243720|243755|243756|243757|243758|243759|243761|243762|268750|269311|270721|270731|272418|272737|273324|377803|377815|378900|379010|404090|404128|404494|470504|471295|471304|471740|489247|491519|508330|508339|534531|534536|534539|534542|534544|534552|534554|534634|535037|535039|535041|535042|535044|537037|538956|539109|572226|572242|573554|573556|573564|573572|573578|573584|573588|573593|574293|574307|574309|574312|575334|589441|649717|649718|649719|649720|649721|649722|649723|653737|653775|671033|677465|689346|773773|798172|821560|849667|849668|849669|849670|849671|849672|849673|849674|852468|853028|853029|929577|929578|929579|939445|939446|939447|939448|939449|939450|951620|951621|951622|960974", + "upstreamId": "26587|26588|26598|26599|195626|195627|195628|224581|224582|243720|243755|243756|243757|243758|243759|243761|243762|268750|269311|270721|270731|272418|272737|273324|377803|377815|378900|379010|404090|404128|404494|470504|471295|471304|471740|489247|491519|508330|508339|534531|534536|534539|534542|534544|534552|534554|534634|535037|535039|535041|535042|535044|537037|538956|539109|572226|572242|573554|573556|573564|573572|573578|573584|573588|573593|574293|574307|574309|574312|575334|589441|649717|649718|649719|649720|649721|649722|649723|653737|653775|671033|677465|689346|773773|798172|821560|849667|849668|849669|849670|849671|849672|849673|849674|852468|853028|853029|929577|929578|929579|939445|939446|939447|939448|939449|939450|951620|951621|951622|960974", "text": "Myopathy with postural muscle atrophy, X-linked" }, { - "baseId": "26589|26590|26593|26600|26601|677465", + "upstreamId": "26589|26590|26593|26600|26601|677465", "text": "Myopathy, reducing body, X-linked, early-onset, severe" }, { - "baseId": "26591|26592|26594|26602|677465", + "upstreamId": "26591|26592|26594|26602|677465", "text": "Myopathy, reducing body, X-linked, childhood-onset" }, { - "baseId": "26595|26596|26597", + "upstreamId": "26595|26596|26597", "text": "Emery-Dreifuss muscular dystrophy 6" }, { - "baseId": "26603|26604|26605|512562|919971|963943|971172", + "upstreamId": "26603|26604|26605|512562|919971|963943|971172", "text": "Mental retardation 63, X-linked" }, { - "baseId": "26607|26608|26609|26610|26611|135319|208840|348285|351945|351946|351948|352712|352713|425237|430622|431930|513387|622037|677288|677310|773704|902697|902698|902699|902700|902701|902702|902703|902704|902705|902706|969136", + "upstreamId": "26607|26608|26609|26610|26611|135319|208840|348285|351945|351946|351948|352712|352713|425237|430622|431930|513387|622037|677288|677310|773704|902697|902698|902699|902700|902701|902702|902703|902704|902705|902706|969136", "text": "Mental retardation 30, X-linked" }, { - "baseId": "26612", + "upstreamId": "26612", "text": "Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia" }, { - "baseId": "26613|26614|26615|131981|139946|139947|349025|352945|352946|360664|802239|903204|903205|903206|903207|903208|903483|964707", + "upstreamId": "26613|26614|26615|131981|139946|139947|349025|352945|352946|360664|802239|903204|903205|903206|903207|903208|903483|964707", "text": "X-linked sideroblastic anemia with ataxia" }, { - "baseId": "26616|26617|26618|26619|26620|38889|170165|170169|170171|170172|209144|225828|431006|431007|624064|792490|800679|964629|980975|983698|983699", + "upstreamId": "26616|26617|26618|26619|26620|38889|170165|170169|170171|170172|209144|225828|431006|431007|624064|792490|800679|964629|980975|983698|983699", "text": "Mental retardation X-linked with cerebellar hypoplasia and distinctive facial appearance" }, { - "baseId": "26621|26622|26623|26624|26625|26626|26627|26629|26630|26631|26632|26633|26634|26635|47534|47535|47536|47537|47538|47539|47540|47541|47542|47543|47544|47545|47546|47547|47548|47549|47550|47551|47552|47553|47554|47555|47556|47557|47558|47559|47560|47561|47562|79307|79308|177673|208981|243783|379257|418962|430742|439831|904964|919993", + "upstreamId": "26621|26622|26623|26624|26625|26626|26627|26629|26630|26631|26632|26633|26634|26635|47534|47535|47536|47537|47538|47539|47540|47541|47542|47543|47544|47545|47546|47547|47548|47549|47550|47551|47552|47553|47554|47555|47556|47557|47558|47559|47560|47561|47562|79307|79308|177673|208981|243783|379257|418962|430742|439831|904964|919993", "text": "Dyskeratosis congenita, X-linked" }, { - "baseId": "26631|26632|447064|447144|514982|514986|515020|515026|515027|515047|515052|556556|556558|556589|556591|556851|556984|556986|626651|626652|626653|626654|626655|626656|706589|822564|822565|822566|822567|822568|822569|822570|822571|822572|822573|822574|921591|921592|921593|921594|921595|921596|921597|929978|929979|929980|929981|929982|941394|941395|952024|952025", + "upstreamId": "26631|26632|447064|447144|514982|514986|515020|515026|515027|515047|515052|556556|556558|556589|556591|556851|556984|556986|626651|626652|626653|626654|626655|626656|706589|822564|822565|822566|822567|822568|822569|822570|822571|822572|822573|822574|921591|921592|921593|921594|921595|921596|921597|929978|929979|929980|929981|929982|941394|941395|952024|952025", "text": "Hoyeraal-Hreidarsson syndrome" }, { - "baseId": "26636|26637|26638|26640|26641|26642|26648|26649|169852|169882|430630|430631|432226|486779|611440|789137|800677|962872", + "upstreamId": "26636|26637|26638|26640|26641|26642|26648|26649|169852|169882|430630|430631|432226|486779|611440|789137|800677|962872", "text": "Lissencephaly, X-linked" }, { - "baseId": "26636|26637|26638|26639|26640|26641|26642|26643|26645|26646|26647|26648|26649|430629|430630|430632", + "upstreamId": "26636|26637|26638|26639|26640|26641|26642|26643|26645|26646|26647|26648|26649|430629|430630|430632", "text": "Subcortical laminar heterotopia, X-linked" }, { - "baseId": "26637|26648|92943|169848|169849|169850|169851|169852|169853|169854|169855|169856|169857|169858|169859|169860|169861|169862|169863|169864|169865|169866|169867|169868|169869|169870|169871|169872|169873|169875|169876|169877|169878|169879|169880|169881|169882|169883|169884|169885|169886|169887|169888|169889|169890|169891|169892|169893|169894|169895|169896|169897|169898|169899|169900|169901|169902|169903|169905|169906|169907|169908|169909|169910|169911|169912|169913|169914|169915|169916|169917|169918|169919|169920|169921|169922|169923|169924|169925|169926|169927|169928|169929|169930|169931|169932|169933|169934|169935|169936|513940|514033", + "upstreamId": "26637|26648|92943|169848|169849|169850|169851|169852|169853|169854|169855|169856|169857|169858|169859|169860|169861|169862|169863|169864|169865|169866|169867|169868|169869|169870|169871|169872|169873|169875|169876|169877|169878|169879|169880|169881|169882|169883|169884|169885|169886|169887|169888|169889|169890|169891|169892|169893|169894|169895|169896|169897|169898|169899|169900|169901|169902|169903|169905|169906|169907|169908|169909|169910|169911|169912|169913|169914|169915|169916|169917|169918|169919|169920|169921|169922|169923|169924|169925|169926|169927|169928|169929|169930|169931|169932|169933|169934|169935|169936|513940|514033", "text": "Heterotopia" }, { - "baseId": "26650|26651|26652|424963|792133|971184", + "upstreamId": "26650|26651|26652|424963|792133|971184", "text": "Hypospadias 2, X-linked" }, { - "baseId": "26653|26654|26655|26656|26657|34295|257849|260333|267625|361099|390505|424183|578351|578595|800656|857093|920035|920036|971211|976724|976725|976726|976727|976728|976729", + "upstreamId": "26653|26654|26655|26656|26657|34295|257849|260333|267625|361099|390505|424183|578351|578595|800656|857093|920035|920036|971211|976724|976725|976726|976727|976728|976729", "text": "Congenital stationary night blindness, type 2A" }, { - "baseId": "26658", + "upstreamId": "26658", "text": "Congenital stationary night blindness, type 2A, severe" }, { - "baseId": "26659|214083|214084|354187|424183|578595", + "upstreamId": "26659|214083|214084|354187|424183|578595", "text": "X-linked cone-rod dystrophy 3" }, { - "baseId": "26660|192398|260333|413831|578595|589379|623878|624016", + "upstreamId": "26660|192398|260333|413831|578595|589379|623878|624016", "text": "Ocular albinism, type II" }, { - "baseId": "26661|717879", + "upstreamId": "26661|717879", "text": "Premature ovarian failure 2a" }, { - "baseId": "26662|26663|26664|76584|76585|76587|94346|190838|615269|788951|804834|815959|903651|904253|920008|961816", + "upstreamId": "26662|26663|26664|76584|76585|76587|94346|190838|615269|788951|804834|815959|903651|904253|920008|961816", "text": "Syndromic X-linked intellectual disability Snyder type" }, { - "baseId": "26665|26666|26667|38888|411202|963955|964584|964585", + "upstreamId": "26665|26666|26667|38888|411202|963955|964584|964585", "text": "X-Linked Mental Retardation 41" }, { - "baseId": "26668|26669|26670", + "upstreamId": "26668|26669|26670", "text": "Mental retardation 58, X-linked" }, { - "baseId": "26671|26672|26673|26674|26675|26676|26677|26678|26679|26680|26681|34312|34313|34314|34315|51276|170179|170180|170181|170182|170183|170184|209177|209178|209179|209181|209182|430913|430916|488315|513694|550658|626303|653909|682858|792500|792501|802238|903657|917761|971230", + "upstreamId": "26671|26672|26673|26674|26675|26676|26677|26678|26679|26680|26681|34312|34313|34314|34315|51276|170179|170180|170181|170182|170183|170184|209177|209178|209179|209181|209182|430913|430916|488315|513694|550658|626303|653909|682858|792500|792501|802238|903657|917761|971230", "text": "Allan-Herndon-Dudley syndrome" }, { - "baseId": "26682|26683|141316|426736|430797|614095|677471|964615|965591|974506", + "upstreamId": "26682|26683|141316|426736|430797|614095|677471|964615|965591|974506", "text": "TARP syndrome" }, { - "baseId": "26684|26685|26686|45837|227418|257745|271618|271618|338753|338757|338764|338766|338769|338771|338779|338780|338787|338791|338798|338805|338806|338809|338823|348369|348371|348376|348377|348379|348381|348383|348387|348389|348395|348406|348407|348410|348412|348417|348424|348432|348434|352022|352023|352025|352026|352028|352029|352030|352032|352033|352036|352037|352038|352039|352725|352726|352727|352728|352729|352730|352731|352732|352733|352734|352735|352736|352741|440026|440027|440028|471245|471246|471249|495793|514119|534457|534461|534464|534496|534498|535009|535013|572186|573530|574191|575283|575323|613424|614103|649661|649662|653434|653683|717625|758260|786695|792119|792120|821550|821551|821552|821553|821554|849586|849587|849588|849589|849590|849591|849592|849593|849594|849595|849596|849597|849598|902733|902734|902735|902736|902737|902738|902739|902740|902741|902742|902743|902744|902745|902746|902747|902748|902749|902750|902751|902752|902753|902754|902755|902756|902757|902758|902759|902760|902761|902762|902763|902764|902765|929555|939418|939419|939420|941286|951584|951585|951586|959159", + "upstreamId": "26684|26685|26686|45837|227418|257745|271618|271618|338753|338757|338764|338766|338769|338771|338779|338780|338787|338791|338798|338805|338806|338809|338823|348369|348371|348376|348377|348379|348381|348383|348387|348389|348395|348406|348407|348410|348412|348417|348424|348432|348434|352022|352023|352025|352026|352028|352029|352030|352032|352033|352036|352037|352038|352039|352725|352726|352727|352728|352729|352730|352731|352732|352733|352734|352735|352736|352741|440026|440027|440028|471245|471246|471249|495793|514119|534457|534461|534464|534496|534498|535009|535013|572186|573530|574191|575283|575323|613424|614103|649661|649662|653434|653683|717625|758260|786695|792119|792120|821550|821551|821552|821553|821554|849586|849587|849588|849589|849590|849591|849592|849593|849594|849595|849596|849597|849598|902733|902734|902735|902736|902737|902738|902739|902740|902741|902742|902743|902744|902745|902746|902747|902748|902749|902750|902751|902752|902753|902754|902755|902756|902757|902758|902759|902760|902761|902762|902763|902764|902765|929555|939418|939419|939420|941286|951584|951585|951586|959159", "text": "Lymphoproliferative syndrome 2, X-linked" }, { - "baseId": "26687|26688|45630|969255", + "upstreamId": "26687|26688|45630|969255", "text": "Mitochondrial complex 1 deficiency, nuclear type 12" }, { - "baseId": "26689|26690|26691|26692|26693|26694|26695|26696|26697|26699|26700|26701|26702|26703|26704|26705|26706|26707|101050|135609|188130|208995|208996|208999|227426|227426|361088|415762|431932|471437|481327|493724|513482|538304|538305|538306|538307|538308|538309|538310|538311|538507|550654|572389|573769|574446|574448|575381|611444|623170|624874|649929|649930|706190|792203|792204|821580|849884|853034|941294|959223|962244|963311|963960", + "upstreamId": "26689|26690|26691|26692|26693|26694|26695|26696|26697|26699|26700|26701|26702|26703|26704|26705|26706|26707|101050|135609|188130|208995|208996|208999|227426|227426|361088|415762|431932|471437|481327|493724|513482|538304|538305|538306|538307|538308|538309|538310|538311|538507|550654|572389|573769|574446|574448|575381|611444|623170|624874|649929|649930|706190|792203|792204|821580|849884|853034|941294|959223|962244|963311|963960", "text": "Coffin-Lowry syndrome" }, { - "baseId": "26698|38886|38887|135609|208995|208996|208997|208999|227426|471437|493724|538304|538507|572389|573769|574446|574448|575381|611444|649929|649930|706190|821580|849884|853034|920445|920446|941294|959223|964592", + "upstreamId": "26698|38886|38887|135609|208995|208996|208997|208999|227426|471437|493724|538304|538507|572389|573769|574446|574448|575381|611444|649929|649930|706190|821580|849884|853034|920445|920446|941294|959223|964592", "text": "Mental retardation, X-linked 19" }, { - "baseId": "26708|26709|26710|34296|188131|513680|626296|975875", + "upstreamId": "26708|26709|26710|34296|188131|513680|626296|975875", "text": "Linear skin defects with multiple congenital anomalies 1" }, { - "baseId": 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+ "upstreamId": "26711|26712|26713|26714|38884|38885|101264|101265|101266|170138|170139|170140|170141|170142|170143|170145|170146|170147|170148|170149|170150|170151|170152|170153|170154|170155|170156|170157|170158|170159|170160|170161|170162|170163|170164|178084|178384|178385|190501|196000|205197|205198|205800|209110|209112|209113|209114|268274|339427|339429|339440|339445|339448|339455|339463|339469|339474|339475|339483|339484|339490|339492|339497|348970|348972|348976|348980|348982|348985|348989|352349|352355|352369|352375|352378|352917|352918|352920|352921|352922|352923|352924|352925|352926|352927|352928|361246|362235|362430|378478|424492|430841|430843|430973|442434|471644|471914|471917|472166|472167|512703|513833|513834|513835|513836|513837|513838|513839|513840|534882|534886|534918|534921|535047|535183|535184|538514|572540|572552|573925|573930|573933|573938|574189|574807|574809|574811|574813|575280|575433|575434|610425|650123|650124|650125|650126|650127|650128|650129|650130|653294|653465|653537|758566|774126|774127|774130|774132|774133|776891|788302|792475|792476|792477|792478|792479|798817|798818|800678|821511|821512|821513|822231|850188|850189|850190|850191|850192|850193|850194|850195|850196|850197|850198|850199|852523|903115|903116|903117|903118|903119|903120|903121|903122|903123|903124|903125|903126|903127|903128|903129|903130|903131|903132|903133|903134|903135|903136|903137|903138|903139|903140|903141|903142|903143|903144|903145|903146|903147|903148|903149|903150|903151|903152|903480|903654|917774|920043|920044|929782|929783|929784|929785|939647|939648|939649|939650|939651|951855|951856|960988|961639|964623|964921|966358|973112|977306|977307|977308", "text": "Congenital muscular hypertrophy-cerebral syndrome" }, { - "baseId": "26724|26725|26726|26727|26728|26731|26732|26733|26734|226397|260942|534603|553160|609300|611457|614104", + "upstreamId": "26724|26725|26726|26727|26728|26731|26732|26733|26734|226397|260942|534603|553160|609300|611457|614104", "text": "Simpson-Golabi-Behmel syndrome type 1" }, { - "baseId": 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+ "upstreamId": "26735|26736|26737|26738|26739|26740|26741|26742|26743|34300|76600|76601|135802|208919|208921|208923|208924|208925|208926|215616|237230|243765|260285|271846|377852|377853|377855|377857|377859|377861|378959|378961|378963|378965|378966|378980|378981|378991|378994|379047|379048|379056|379061|379071|379075|379945|379948|379949|379951|379952|404104|404106|404114|404152|404156|404157|404162|404164|404462|404464|404502|404503|404504|404505|430685|430686|430687|430688|442390|446526|470536|470538|471348|471788|471789|471790|472078|472079|472080|472081|507792|507813|507914|508369|508529|508532|508537|508539|534583|534584|534586|534616|534662|535072|535074|552247|572253|572259|572263|572268|573645|573650|574334|574335|575351|575352|575353|580962|621994|623366|649762|649763|649764|649765|649766|649767|649768|649769|649770|654143|654152|656740|678963|684960|684961|684962|684964|689377|689378|689380|689381|689382|689383|690256|694814|695897|695898|706144|729478|758350|773852|773854|773855|773857|786734|792139|792140|799022|806382|806415|815874|821485|821567|822218|849725|849726|849727|849728|849729|849730|920439|929598|929599|939466|939467|939468|939469|939470|951639|951640|959184|959185|959186|959187|960364|960976|962880|963189|964571|964712|964713|971185|971599|972804|976710|976711", "text": "Creatine transporter deficiency" }, { - "baseId": "26745|26746|26747|26748|26749|26750|26751|26752|26753|26754|106499|106500|361727|361728|361729|361730|361731|430892|430893|430894|430895|550657|622497|679254|800957|906117|917775|969276|969287|969288", + "upstreamId": "26745|26746|26747|26748|26749|26750|26751|26752|26753|26754|106499|106500|361727|361728|361729|361730|361731|430892|430893|430894|430895|550657|622497|679254|800957|906117|917775|969276|969287|969288", "text": "Craniofrontonasal syndrome" }, { - "baseId": "26755", + "upstreamId": "26755", "text": "X-Linked Mental Retardation 88" }, { - "baseId": 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"text": "Alpha thalassemia-X-linked intellectual disability syndrome" }, { - "baseId": "26763|27404|558396|612017", + "upstreamId": "26763|27404|558396|612017", "text": "Atypical teratoid/rhabdoid tumor" }, { - "baseId": "26763|27403|27404", + "upstreamId": "26763|27403|27404", "text": "Astrocytoma, anaplastic" }, { - "baseId": "26767|48495|48495|59193|181453|202291|214480|223771|263192|263996|514043|613536|613537|653986|676955|676971|794110|800332|904877|921253|965616|983725|983747", + "upstreamId": "26767|48495|48495|59193|181453|202291|214480|223771|263192|263996|514043|613536|613537|653986|676955|676971|794110|800332|904877|921253|965616|983725|983747", "text": "Intellectual disability, severe" }, { - "baseId": "26767|263244|434101|805085|969548", + "upstreamId": "26767|263244|434101|805085|969548", "text": "Ambiguous genitalia" }, { - "baseId": "26770|26771|26776|26781|26782|26783|26784|26785", + "upstreamId": "26770|26771|26776|26781|26782|26783|26784|26785", "text": "Mental retardation-hypotonic facies syndrome, X-linked" }, { - "baseId": "26770|26773|26774|26774|26781|99048|225841|263756|390648|411489|434706|471050|512762|512763|574915|583140|622930|622931|677476|677477|964003|964632|964634|964917|969733|976690", + "upstreamId": "26770|26773|26774|26774|26781|99048|225841|263756|390648|411489|434706|471050|512762|512763|574915|583140|622930|622931|677476|677477|964003|964632|964634|964917|969733|976690", "text": "X-linked intellectual disability-hypotonic face syndrome" }, { - "baseId": "26774|26779|26780|411489|471050|512762|512763|574915|976690", + "upstreamId": "26774|26779|26780|411489|471050|512762|512763|574915|976690", "text": "Acquired hemoglobin H disease" }, { - "baseId": "26774", + "upstreamId": "26774", "text": "Renier-Gabreels-Jasper syndrome" }, { - "baseId": 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"text": "Periventricular nodular heterotopia 1" }, { - "baseId": "26794|26805|26811|481224|976681", + "upstreamId": "26794|26805|26811|481224|976681", "text": "Oto-palato-digital syndrome, type I" }, { - "baseId": "26794|264749", + "upstreamId": "26794|264749", "text": "Conductive hearing impairment" }, { - "baseId": 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"text": "Oto-palato-digital syndrome, type II" }, { - "baseId": 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"text": "Frontometaphyseal dysplasia 1" }, { - "baseId": 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"text": "Melnick-Needles syndrome" }, { - "baseId": "26799", + "upstreamId": "26799", "text": "Heterotopia, periventricular, with frontometaphyseal dysplasia" }, { - "baseId": "26801|26807", + "upstreamId": "26801|26807", "text": "Otopalatodigital spectrum disorder" }, { - "baseId": "26809|26815|26816|26817|26818|205799|430731|539110|623788|623789|860809|919985|919986|919987|919988|919989|920441", + "upstreamId": "26809|26815|26816|26817|26818|205799|430731|539110|623788|623789|860809|919985|919986|919987|919988|919989|920441", "text": "Cardiac valvular dysplasia, X-linked" }, { - "baseId": "26810|481079|481083", + "upstreamId": "26810|481079|481083", "text": "Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked" }, { - "baseId": 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"text": "Frontometaphyseal dysplasia" }, { - "baseId": "26813|471830|539110|578589|805127|966023|966024", + "upstreamId": "26813|471830|539110|578589|805127|966023|966024", "text": "FG syndrome 2" }, { - "baseId": "26814|539110", + "upstreamId": "26814|539110", "text": "Terminal osseous dysplasia" }, { - "baseId": "26819", + "upstreamId": "26819", "text": "Menkes disease, mild" }, { - "baseId": 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+ "upstreamId": 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"text": "Cutis laxa, X-linked" }, { - "baseId": 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+ "upstreamId": 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"text": "Menkes kinky-hair syndrome" }, { - "baseId": "26828", + "upstreamId": "26828", "text": "Menkes disease, copper-replacement responsive" }, { - "baseId": 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+ "upstreamId": "26832|26833|26834|26834|98292|98293|98296|177054|196147|209207|209208|209218|209220|209229|209241|209250|209253|209261|209264|209277|209291|232158|232163|245190|245194|245197|245199|245200|245201|245202|245203|268459|268461|270367|271496|360693|361659|378665|378675|379450|379452|379459|379462|379470|379546|379550|380130|411498|422518|422519|446780|446782|470384|471061|471063|471064|471066|471070|471073|471757|471758|471765|471766|471769|471771|472011|472012|472013|472015|472016|472017|472019|472217|472218|472219|472220|472222|472223|508243|508247|508254|508701|512772|534393|534979|534983|534986|534987|534988|534989|534991|534992|534993|534995|535001|535091|535093|535095|535100|535101|535102|535104|535106|535212|540473|572609|574032|574035|574038|574043|574994|575082|575083|575460|575461|575462|580995|581008|581157|650261|650262|650263|650264|650265|650266|650267|650268|650269|650270|650271|650272|650273|650274|650275|650276|650277|650278|650279|650280|650281|650282|650283|650284|650285|653477|653720|653795|656804|656805|694940|694943|694944|694945|694946|694947|694948|694949|694950|694951|694952|706324|706325|729712|743480|743481|758669|758670|758671|774241|774242|774243|774247|778708|786927|786928|786929|821518|821519|821520|821521|850326|850327|850328|850329|850330|850331|850332|850333|850334|850335|850336|850337|850338|850339|853048|917785|929833|929834|929835|929836|929837|929838|929839|939694|939695|940569|941316|951903|951904|951905|951906|951907|951908|959366|959367|959368|959369|959370|959371|959372|959373|959374|959375", "text": "Distal spinal muscular atrophy, X-linked 3" }, { - "baseId": "26835|26836|26837|26838|26841|26846|26847|33490|49402|49403|49404|49405|49406|49407|49408|204263|204265|204266|204267|204268|204269|204270|204271|204272|204273|204274|204275|204276|339380|339382|339385|339394|339402|339406|339408|339414|339418|348898|348900|348904|348925|348926|348929|348933|348936|348941|348943|348954|348969|352291|352292|352294|352296|352297|352300|352301|352304|352305|352318|352320|352321|352323|352324|352338|352339|352902|352903|352905|352906|352907|352909|352911|352912|352913|352915|384508|432424|481351|482259|552262|578029|620931|792471|818376|850166|903073|903074|903075|903076|903077|903078|903079|903080|903081|903082|903083|903084|903085|903086|903087|903088|903089|903091|903092|903093|903094|903095|903096|903097|903098|903099|903101|903102|903103|903104|903105|903106|903107|903108|903109|903110|903479|918534|921032|921244|921246|921247|921249|962131|963389|963390|963391|964620|971212|971213|980403", + "upstreamId": "26835|26836|26837|26838|26841|26846|26847|33490|49402|49403|49404|49405|49406|49407|49408|204263|204265|204266|204267|204268|204269|204270|204271|204272|204273|204274|204275|204276|339380|339382|339385|339394|339402|339406|339408|339414|339418|348898|348900|348904|348925|348926|348929|348933|348936|348941|348943|348954|348969|352291|352292|352294|352296|352297|352300|352301|352304|352305|352318|352320|352321|352323|352324|352338|352339|352902|352903|352905|352906|352907|352909|352911|352912|352913|352915|384508|432424|481351|482259|552262|578029|620931|792471|818376|850166|903073|903074|903075|903076|903077|903078|903079|903080|903081|903082|903083|903084|903085|903086|903087|903088|903089|903091|903092|903093|903094|903095|903096|903097|903098|903099|903101|903102|903103|903104|903105|903106|903107|903108|903109|903110|903479|918534|921032|921244|921246|921247|921249|962131|963389|963390|963391|964620|971212|971213|980403", "text": "Dent disease type 1" }, { - "baseId": "26835|26842|26843|26844|962188", + "upstreamId": "26835|26842|26843|26844|962188", "text": "Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis" }, { - "baseId": "26839|26840|26845", + "upstreamId": "26839|26840|26845", "text": "Nephrolithiasis, X-linked recessive" }, { - "baseId": "26839|920038", + "upstreamId": "26839|920038", "text": "X-linked recessive nephrolithiasis with renal failure" }, { - "baseId": "26841|204277|576346", + "upstreamId": "26841|204277|576346", "text": "Hypophosphatemic rickets, X-linked recessive" }, { - "baseId": "26848|26859|26861|26883", + "upstreamId": "26848|26859|26861|26883", "text": "Rett syndrome, zappella variant" }, { - "baseId": "26848|26850|26854|26856|26858|26862|26862|26864|26868|26868|26869|26880|26882|26883|26883|45152|45153|45157|45158|101102|101102|141890|153060|153074|153076|153101|153111|153115|153127|153138|153138|153170|153173|153190|153200|153206|153335|153338|153340|153388|153432|153432|153444|153481|165851|165866|166488|166490|166510|166511|186595|187470|187478|187495|187564|187570|187572|187573|187647|362434|404014|534722|614500", + "upstreamId": "26848|26850|26854|26856|26858|26862|26862|26864|26868|26868|26869|26880|26882|26883|26883|45152|45153|45157|45158|101102|101102|141890|153060|153074|153076|153101|153111|153115|153127|153138|153138|153170|153173|153190|153200|153206|153335|153338|153340|153388|153432|153432|153444|153481|165851|165866|166488|166490|166510|166511|186595|187470|187478|187495|187564|187570|187572|187573|187647|362434|404014|534722|614500", "text": "Mental retardation, X-linked, syndromic 13" }, { - "baseId": "26848|26850|26850|26851|26853|26854|26854|26858|26858|26862|26862|26863|26864|26867|26868|26868|26870|26872|26881|26883|26883|26885|45151|45152|45153|45154|45158|99461|101083|101084|101085|101086|101087|101088|101089|101091|101092|101093|101094|101095|101096|101097|101098|101101|101102|101102|101104|101105|141889|141890|141891|141892|141893|141894|141896|141897|141898|141899|141900|153036|153041|153046|153053|153057|153072|153073|153076|153098|153101|153104|153115|153125|153128|153135|153136|153138|153138|153144|153162|153165|153169|153170|153172|153173|153178|153181|153182|153189|153190|153195|153197|153207|153215|153217|153228|153233|153237|153241|153284|153285|153294|153306|153310|153311|153317|153333|153335|153336|153340|153341|153358|153359|153360|153366|153370|153376|153383|153385|153389|153391|153393|153396|153411|153412|153413|153418|153420|153432|153432|153434|153438|153441|153443|153446|153448|153459|153467|153468|153470|153481|153482|153490|153496|165851|165864|165865|166485|166486|166488|166488|166490|166490|166511|166521|166524|170093|186595|187495|187555|187559|187561|187566|187569|187570|190328|208948|208952|208955|237856|264950|265144|377892|377900|379123|404117|404466|404467|404468|404512|404514|413850|422439|426424|426425|470373|471357|472092|486780|507865|508424|508560|513391|534343|534503|534610|534613|534618|534620|534623|534661|534715|534722|534723|535084|535085|535087|538290|538506|572069|572070|572078|572331|572333|572335|572336|572338|573437|573439|573673|573675|574161|574162|574349|575277|575362|614500|649810|649811|649812|649813|649814|649815|649816|649817|649818|649819|649820|649821|649822|653287|653351|653699|653730|653732|689401|689404|689406|689408|717721|729506|773887|776964|800255|821486|821489|821490|822219|822220|849778|849779|849780|849781|849782|849783|849784|849785|849786|849787|849788|849789|849790|849791|849792|849793|851944|851946|929611|929612|929613|929614|929615|939480|939481|939482|939483|939484|939485|939486|940545|951658|951659|951660|951661|951662|951663|959198|959199|960368|964581", + "upstreamId": "26848|26850|26850|26851|26853|26854|26854|26858|26858|26862|26862|26863|26864|26867|26868|26868|26870|26872|26881|26883|26883|26885|45151|45152|45153|45154|45158|99461|101083|101084|101085|101086|101087|101088|101089|101091|101092|101093|101094|101095|101096|101097|101098|101101|101102|101102|101104|101105|141889|141890|141891|141892|141893|141894|141896|141897|141898|141899|141900|153036|153041|153046|153053|153057|153072|153073|153076|153098|153101|153104|153115|153125|153128|153135|153136|153138|153138|153144|153162|153165|153169|153170|153172|153173|153178|153181|153182|153189|153190|153195|153197|153207|153215|153217|153228|153233|153237|153241|153284|153285|153294|153306|153310|153311|153317|153333|153335|153336|153340|153341|153358|153359|153360|153366|153370|153376|153383|153385|153389|153391|153393|153396|153411|153412|153413|153418|153420|153432|153432|153434|153438|153441|153443|153446|153448|153459|153467|153468|153470|153481|153482|153490|153496|165851|165864|165865|166485|166486|166488|166488|166490|166490|166511|166521|166524|170093|186595|187495|187555|187559|187561|187566|187569|187570|190328|208948|208952|208955|237856|264950|265144|377892|377900|379123|404117|404466|404467|404468|404512|404514|413850|422439|426424|426425|470373|471357|472092|486780|507865|508424|508560|513391|534343|534503|534610|534613|534618|534620|534623|534661|534715|534722|534723|535084|535085|535087|538290|538506|572069|572070|572078|572331|572333|572335|572336|572338|573437|573439|573673|573675|574161|574162|574349|575277|575362|614500|649810|649811|649812|649813|649814|649815|649816|649817|649818|649819|649820|649821|649822|653287|653351|653699|653730|653732|689401|689404|689406|689408|717721|729506|773887|776964|800255|821486|821489|821490|822219|822220|849778|849779|849780|849781|849782|849783|849784|849785|849786|849787|849788|849789|849790|849791|849792|849793|851944|851946|929611|929612|929613|929614|929615|939480|939481|939482|939483|939484|939485|939486|940545|951658|951659|951660|951661|951662|951663|959198|959199|960368|964581", "text": "Severe neonatal-onset encephalopathy with microcephaly" }, { - "baseId": "26850|26850|26853|26854|26854|26858|26858|26859|26862|26862|26868|26883|45156|137081|152984|152986|152987|152988|152989|152990|152991|152996|152999|153007|153008|153010|153013|153022|153068|153101|153138|153138|153190|153325|153340|153348|153370|153432|153481|165843|165847|165855|166488|166490|186595|187569|422439|614500|919982|919983", + "upstreamId": "26850|26850|26853|26854|26854|26858|26858|26859|26862|26862|26868|26883|45156|137081|152984|152986|152987|152988|152989|152990|152991|152996|152999|153007|153008|153010|153013|153022|153068|153101|153138|153138|153190|153325|153340|153348|153370|153432|153481|165843|165847|165855|166488|166490|186595|187569|422439|614500|919982|919983", "text": "Autism, susceptibility to, X-linked 3" }, { - "baseId": "26850|26854|26858|26862|26868|26877|26883|101102|153138|153340|153432|166488|166490|186595|187495|243965|243966|613957|614500|614620|963190", + "upstreamId": "26850|26854|26858|26862|26868|26877|26883|101102|153138|153340|153432|166488|166490|186595|187495|243965|243966|613957|614500|614620|963190", "text": "Syndromic X-linked intellectual disability Lubs type" }, { - "baseId": "26854|153171|170092", + "upstreamId": "26854|153171|170092", "text": "Encephalopathy, neonatal severeMental retardation, X-linked, syndromic 13Rett syndrome" }, { - "baseId": "26862|244018|263218|263234|263346|263378|512868|513946|513964|513983|514017|514111|514327|550126|626018|626019|800980|801184|905852|905853|905854|984026|984027|984028|984030|984031|984032|984033|984034|984035", + "upstreamId": "26862|244018|263218|263234|263346|263378|512868|513946|513964|513983|514017|514111|514327|550126|626018|626019|800980|801184|905852|905853|905854|984026|984027|984028|984030|984031|984032|984033|984034|984035", "text": "Behavioral abnormality" }, { - "baseId": 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+ "upstreamId": "26886|26887|26888|26889|26890|26891|26895|26897|26898|26899|26900|38879|52304|52309|52311|52312|52320|52323|52332|52334|52339|52340|52346|52347|52350|52354|52357|52358|52362|52365|52373|52375|52376|52384|52388|52390|52391|52392|52395|52401|52403|52411|52412|52414|52418|52422|52426|52427|52428|52430|52435|52437|52439|52441|52444|52448|52452|52455|52458|52463|52464|52466|52472|52473|52474|52477|52479|52483|52487|52489|52493|52494|52495|52498|52499|52505|52508|52513|52514|52515|174811|174815|174817|174819|174820|175221|175225|175226|175227|175230|175231|175232|175236|175238|176897|178187|178237|178242|191866|193401|194096|230245|230249|230250|231384|231419|231423|231424|231425|236904|266350|269755|272763|315230|322075|322076|328159|328161|328165|328171|328181|329420|329437|374343|415310|425944|486060|489321|497000|497399|497818|497875|497895|508743|508747|511946|538427|546726|552405|612931|654690|654694|654696|654699|656096|656097|666262|713192|724746|724747|738301|738302|738304|738305|752982|752984|752988|752990|752991|760047|760097|768771|768774|768779|768784|768785|768787|768788|768793|768795|768798|768803|768805|768806|775791|784187|784192|784195|784200|784205|784208|784211|784216|784222|787785|787833|791180|796659|822055|822056|839027|839030|839032|839039|839040|839046|839048|839049|839051|839055|839062|839067|839073|839074|839077|839083|839084|839085|852400|852407|868809|868817|868834|918366|956687|956689|956697|979148|979149|979150|979151|979152|979153|979154|979155|979156|979157|979158|979159|979160|979161|979162|979163|979164|979165|979166|979167|979168|979169|979170|979171|979172|979173|979174|979175|979176|979177|979178|979179|979180|979181|979182|979183|979184|979185|979186|979187|979188|979189|979190|979191|979192|979193|979194|979195|979196|979197|979198|979199|979200|979201|979202|979203|979204|979205|979206|979207|979208|979209|979210", "text": "Usher syndrome, type 1B" }, { - "baseId": 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+ "upstreamId": "26887|26889|26891|26892|26894|26895|26898|26899|26903|38881|52303|52304|52304|52305|52305|52306|52308|52309|52311|52312|52313|52315|52319|52320|52321|52323|52326|52328|52330|52331|52332|52333|52334|52336|52338|52339|52339|52340|52343|52345|52346|52346|52347|52348|52349|52350|52351|52352|52353|52354|52355|52356|52357|52358|52359|52360|52361|52362|52363|52364|52365|52367|52369|52370|52371|52373|52373|52376|52377|52378|52378|52378|52383|52385|52385|52388|52388|52390|52392|52393|52394|52394|52395|52396|52397|52399|52400|52401|52403|52404|52407|52407|52411|52411|52412|52414|52414|52416|52417|52418|52421|52422|52424|52425|52426|52427|52428|52430|52431|52432|52434|52435|52437|52438|52439|52440|52441|52442|52444|52446|52448|52449|52452|52453|52456|52457|52458|52458|52460|52461|52462|52463|52464|52465|52466|52467|52468|52469|52472|52473|52474|52475|52475|52477|52479|52483|52486|52487|52488|52492|52493|52494|52495|52496|52497|52497|52498|52499|52501|52504|52505|52508|52509|52513|52514|52515|53126|53126|129781|174810|174811|174812|174813|174814|174818|174819|174820|175221|175222|175225|175226|175227|175233|175236|175238|175238|175379|175519|175522|176872|176872|176880|176881|176882|176890|176894|176897|178183|178185|178187|178187|178237|178238|178239|178240|178241|178242|178245|178248|178280|178282|178299|178300|178301|178301|188830|188830|188830|193260|194566|194658|230238|230244|230245|230245|230249|230250|231364|231364|231366|231368|231369|231384|231384|231385|231387|231417|231417|231419|231420|231420|231421|231423|231424|231425|231426|231427|237612|237613|237614|237614|237614|238052|268060|269755|272763|275242|315220|315224|315230|315231|315242|315243|315244|315250|315250|315252|315256|315257|315258|315259|322038|322039|322043|322044|322052|322054|322055|322071|322072|322075|322076|322080|322082|322083|322084|322085|322086|322091|322094|322095|328157|328159|328161|328164|328165|328171|328172|328177|328181|328182|328183|328184|329415|329417|329419|329420|329422|329423|329424|329425|329427|329429|329431|329432|329437|329438|329439|329446|329447|329453|358080|358081|359920|360049|360049|361501|361502|374343|384410|389240|389241|389242|389242|389243|389244|408476|425944|431762|431763|431763|431766|431767|440019|444891|482004|488902|491741|493338|497208|497209|497399|497625|497811|497812|497820|497822|497860|508737|508743|514401|546382|546385|546387|546394|546395|546399|546403|546404|546408|546413|546417|546423|546425|546426|546428|546431|546436|546438|546440|546446|546457|546461|546463|546466|546469|546494|546496|546508|546520|546526|546527|546530|546599|546607|546607|546611|546612|546614|546625|546628|546637|546642|546645|546659|546664|546673|546674|546687|546688|546688|546691|546693|546694|546696|546696|546698|546700|546702|546705|546708|546709|546710|546716|546718|546720|546721|546723|546725|546726|546727|546731|546733|546734|546742|546742|546744|546746|546747|546754|546755|546756|546758|546761|546763|546766|546767|546780|546784|546790|546793|546803|546811|546814|546815|546824|546826|546828|546836|546838|546845|546856|546866|546867|546870|546873|547003|547006|547013|547015|547021|547031|547033|547034|547035|547038|547041|547042|547045|547046|547052|547055|547058|547060|547072|547079|547079|552405|553265|553266|553267|553268|615816|615841|615842|654690|713192|738305|760047|768788|768806|784189|784220|791171|791172|791173|791174|791175|791176|791177|791178|791179|791180|791181|839045|839075|857681|857682|868803|868804|868805|868806|868807|868808|868809|868810|868811|868812|868813|868814|868815|868816|868817|868818|868819|868820|868821|868822|868823|868824|868825|868826|868827|868828|868829|868830|868831|868832|868833|868834|868835|868836|868837|868838|868839|868840|868841|868842|872137|872138|872139|872140|872141|872142|872143|872144", "text": "Deafness, autosomal recessive 2" }, { - "baseId": 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+ "upstreamId": 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"text": "Deafness, autosomal dominant 11" }, { - "baseId": "26904|26905|26906|26907|26908|26909|26910|26911|26912|26913|26914|33906|33908|33909|33910|98353|98354|98355|177701|177702|186942|186943|186944|186945|193377|255375|265241|271735|272580|274348|275085|275312|275338|323422|323425|323426|323436|323438|323439|323442|333122|333127|333130|333132|333134|333136|333145|333146|339949|339956|339957|339962|339973|339976|339980|339984|341363|341364|341366|341367|358325|358326|358327|358328|358329|358330|358331|358332|358333|358334|358335|358336|358337|358338|358339|360304|373697|373702|373707|373710|374352|374355|374358|374364|374757|374758|389205|422048|431016|465199|465319|488353|489448|492386|493494|504988|505409|547593|547595|547598|547599|547601|547606|547607|547611|547615|547616|547617|547619|547631|547861|547864|547869|547873|547874|547876|548265|548268|548270|548275|548278|567290|567293|585874|589134|623379|643564|643565|652760|653068|656310|656311|688494|693747|703366|754708|754709|754711|770367|770368|785039|787965|788173|791486|791487|791488|791489|801725|801726|801727|801728|820739|820758|842736|842737|842738|842739|851631|852784|874200|874201|874202|874203|874204|874205|874206|874207|874208|874209|874210|876579|876580|876581|876582|917211|917537|927430|927431|927432|937082|940331|949030|949031|957518|957519|957520|957521|957522|972223|972224|972225|972226|972227|977272|979681|979682|979683|979684|979685|979686|979687|979688|979689", + "upstreamId": "26904|26905|26906|26907|26908|26909|26910|26911|26912|26913|26914|33906|33908|33909|33910|98353|98354|98355|177701|177702|186942|186943|186944|186945|193377|255375|265241|271735|272580|274348|275085|275312|275338|323422|323425|323426|323436|323438|323439|323442|333122|333127|333130|333132|333134|333136|333145|333146|339949|339956|339957|339962|339973|339976|339980|339984|341363|341364|341366|341367|358325|358326|358327|358328|358329|358330|358331|358332|358333|358334|358335|358336|358337|358338|358339|360304|373697|373702|373707|373710|374352|374355|374358|374364|374757|374758|389205|422048|431016|465199|465319|488353|489448|492386|493494|504988|505409|547593|547595|547598|547599|547601|547606|547607|547611|547615|547616|547617|547619|547631|547861|547864|547869|547873|547874|547876|548265|548268|548270|548275|548278|567290|567293|585874|589134|623379|643564|643565|652760|653068|656310|656311|688494|693747|703366|754708|754709|754711|770367|770368|785039|787965|788173|791486|791487|791488|791489|801725|801726|801727|801728|820739|820758|842736|842737|842738|842739|851631|852784|874200|874201|874202|874203|874204|874205|874206|874207|874208|874209|874210|876579|876580|876581|876582|917211|917537|927430|927431|927432|937082|940331|949030|949031|957518|957519|957520|957521|957522|972223|972224|972225|972226|972227|977272|979681|979682|979683|979684|979685|979686|979687|979688|979689", "text": "Tyrosinemia type I" }, { - "baseId": "26907", + "upstreamId": "26907", "text": "Fumarylacetoacetase pseudodeficiency" }, { - "baseId": "26916|456732|970844", + "upstreamId": "26916|456732|970844", "text": "Trypsinogen deficiency" }, { - "baseId": "26925|26926|26927|26928", + "upstreamId": "26925|26926|26927|26928", "text": "Ghosal hematodiaphyseal syndrome" }, { - "baseId": "26928|425733|490070|614310|614524", + "upstreamId": "26928|425733|490070|614310|614524", "text": "Ghosal hematodiaphyseal dysplasia" }, { - "baseId": 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+ "upstreamId": "26929|26930|26931|26932|26933|26934|26935|26936|26937|26938|26939|26940|26941|26942|26943|26944|79070|79077|79078|79079|79080|79082|79083|79086|79087|79088|79095|186680|186681|186682|186683|186684|186685|186686|186687|186688|186689|186690|186691|186692|186693|186694|251429|251430|251431|251433|251434|264191|269616|271336|275318|293049|293050|293057|293060|293064|293066|293075|293076|293078|293080|293084|293094|294451|294453|294454|294455|294467|297921|297924|297925|297937|297939|297947|297998|298000|298009|298010|298031|298032|298035|298036|357337|357338|357339|357340|357341|357342|357343|357344|357345|357346|357347|357348|357349|357350|357351|357352|357353|367624|421485|443610|481715|543100|543101|543102|543104|543105|543107|543113|543115|543376|543378|543381|543385|543391|543394|543395|543396|543398|543399|543401|543403|543404|543406|543407|543408|543410|543411|543412|543416|543420|543444|543447|543452|543453|543455|543458|543462|543464|543467|543471|543482|543484|543486|543487|543489|543497|543499|615394|615395|615396|615397|615398|615399|615400|615401|615402|615403|615404|615405|615406|615407|615408|615409|615410|615411|615724|620160|698456|709277|720882|734564|748857|764415|775064|801505|861592|890577|890578|890579|890580|890581|890582|890583|890584|890585|890586|890587|890588|890589|890590|890591|890592|890593|890594|890595|890596|890597|890598|890599|890600|890601|890602|891781|891782|891783|891784|891785|961269", "text": "Hereditary factor XI deficiency disease" }, { - "baseId": "26930|26931|26940|186682|264191|271336|293060|293064|298010|367624|443610|615400|698456|720882|734563|734564|748856|748857|764412|764415|764416|774895|775064|890580|891781|978069|978070|978071|978072|978073|978074|978075|978076|978077|978078|978079|978080|978081|978082|978083|978084", + "upstreamId": "26930|26931|26940|186682|264191|271336|293060|293064|298010|367624|443610|615400|698456|720882|734563|734564|748856|748857|764412|764415|764416|774895|775064|890580|891781|978069|978070|978071|978072|978073|978074|978075|978076|978077|978078|978079|978080|978081|978082|978083|978084", "text": "Plasma factor XI deficiency" }, { - "baseId": "26931", + "upstreamId": "26931", "text": "Factor XI" }, { - "baseId": "26946|106001|106002|106003|106004|106006|250889|250890|288437|288439|288442|288448|288453|288454|288456|288458|288465|288466|288468|288472|288477|288478|288482|288487|288489|288492|288494|288495|288496|288499|288501|288505|288507|288513|288514|288517|288519|288524|288529|288532|288533|289179|289181|289190|289191|289193|289195|289197|289198|289199|289219|289233|289234|289237|289239|289248|289249|289250|289256|289260|289261|289262|289264|289267|289269|289279|289280|289281|289282|292182|292183|292185|292186|292187|292188|292192|292193|292194|292200|292205|292206|292210|292212|292213|292214|292215|292216|292218|292221|292227|292234|292236|292239|292245|292246|292250|292258|292311|292312|292314|292316|292326|292328|292333|292335|292336|292337|292340|292342|292343|292344|292347|292349|292350|292351|292358|292362|292363|292364|292366|292368|292369|292370|292383|292385|292387|292388|292389|292399|292402|513528|620100|708516|708518|733735|887771|887772|887773|887774|887775|887776|887777|887778|887779|887780|887781|887782|887783|887784|887785|887786|887787|887788|887789|887790|887791|887792|887793|887794|887795|887796|887797|887798|887799|887800|887801|887802|887803|887804|887805|887806|887807|887808|887809|887810|887811|887812|887813|887814|887815|887816|887817|887818|887819|891557", + "upstreamId": "26946|106001|106002|106003|106004|106006|250889|250890|288437|288439|288442|288448|288453|288454|288456|288458|288465|288466|288468|288472|288477|288478|288482|288487|288489|288492|288494|288495|288496|288499|288501|288505|288507|288513|288514|288517|288519|288524|288529|288532|288533|289179|289181|289190|289191|289193|289195|289197|289198|289199|289219|289233|289234|289237|289239|289248|289249|289250|289256|289260|289261|289262|289264|289267|289269|289279|289280|289281|289282|292182|292183|292185|292186|292187|292188|292192|292193|292194|292200|292205|292206|292210|292212|292213|292214|292215|292216|292218|292221|292227|292234|292236|292239|292245|292246|292250|292258|292311|292312|292314|292316|292326|292328|292333|292335|292336|292337|292340|292342|292343|292344|292347|292349|292350|292351|292358|292362|292363|292364|292366|292368|292369|292370|292383|292385|292387|292388|292389|292399|292402|513528|620100|708516|708518|733735|887771|887772|887773|887774|887775|887776|887777|887778|887779|887780|887781|887782|887783|887784|887785|887786|887787|887788|887789|887790|887791|887792|887793|887794|887795|887796|887797|887798|887799|887800|887801|887802|887803|887804|887805|887806|887807|887808|887809|887810|887811|887812|887813|887814|887815|887816|887817|887818|887819|891557", "text": "Orotic aciduria" }, { - "baseId": 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+ "upstreamId": 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"text": "Hurler syndrome" }, { - "baseId": 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+ "upstreamId": "26947|26948|26949|26950|26956|26958|26959|26960|26961|26962|26964|26966|75541|98531|98532|98533|98534|98535|98537|98539|98543|98544|98545|98546|98547|98548|98549|98550|98552|98553|98554|98556|98557|98558|177221|177778|190226|190227|192200|192201|192202|193396|195857|224714|224715|224716|224717|224718|224719|224720|251307|251309|259780|265213|265229|265308|267722|270479|291836|291845|293202|293212|293213|293214|293215|296312|296502|296521|296527|296538|296558|300068|300111|300112|300121|359596|414951|421459|421460|438266|453187|453618|453630|487045|488258|488285|493667|519674|519934|519935|519946|520291|520527|520568|536655|543021|543037|543039|543176|543182|543201|543203|543213|543234|543265|543282|543283|543284|543305|543306|543319|543325|543328|543364|543540|549563|559551|559553|559821|563355|621165|625880|625881|625882|625915|631842|631843|631844|631845|632532|632533|632534|632535|651143|651265|709085|709086|709087|720677|720678|720679|720680|721122|721123|721124|734339|734340|734343|734344|734345|734346|734347|734776|748582|748585|748587|748588|748589|748591|749112|759258|759380|764212|764219|764221|764222|764224|764226|764227|764650|764651|774866|779003|779171|781828|781829|781832|781833|781835|781836|781838|787190|828629|828630|828631|828632|828633|828634|828636|828637|828638|828639|828640|828641|828642|828643|828644|829539|829540|829541|891863|891864|891865|891866|891867|891868|891869|891870|891871|891872|891873|891874|895975|895976|895977|895978|895979|896010|906010|916917|916918|916919|916920|916934|923375|923376|932106|932107|932476|932477|939953|940770|940771|943733|943734|943735|944148|953610|953611|953612|953613|953614|953615|953616|953617|953618|953619|953868|960526|961843|963262|975779|978003|978004|978005|978006|978007|978008|978009|978010|978011|978108|978109", "text": "Mucopolysaccharidosis type 1" }, { - "baseId": "26947|26948|26948|26949|26957|224715|623136", + "upstreamId": "26947|26948|26948|26949|26957|224715|623136", "text": "Mucopolysaccharidosis, MPS-I-S" }, { - "baseId": "26947|26947|26948|26948|26949|26958|26959|26961|26963|26964|26966|543265|828632|918912|971847|971848|971849|971850|971851", + "upstreamId": "26947|26947|26948|26948|26949|26958|26959|26961|26963|26964|26966|543265|828632|918912|971847|971848|971849|971850|971851", "text": "Mucopolysaccharidosis, MPS-I-H/S" }, { - "baseId": "26962", + "upstreamId": "26962", "text": "IDUA pseudodeficiency" }, { - "baseId": "26967|26968|26968|26969|26969|26970|26970|26971|26971|26971|26972|26973|26973|26974|48325|48326|94405|94405|102137|103452|103456|103461|103463|103464|103466|103470|103470|103473|103478|103487|103491|103491|103493|103512|103512|103523|103524|103524|103525|103526|135084|135085|135085|135086|142016|142016|142017|142017|190748|190748|200230|231816|231816|231819|231819|231821|244709|244711|244712|244712|254395|254396|254397|315956|315957|315960|315963|323148|323150|323152|323152|323159|323188|323199|323220|329210|329211|329231|329232|329248|329248|329262|329265|330383|330386|330389|330396|330408|330408|330430|330432|444905|462167|481424|526895|527212|537210|565034|566309|571185|571186|571187|624452|640599|640600|640601|640602|640602|640603|640604|640605|652649|775896|779494|779494|784267|799664|800361|839260|839261|839262|839263|839264|839265|839266|839267|839267|839268|839269|869216|869217|869218|869219|869220|869221|869222|869223|869224|869225|869226|869227|935901|935902|935903|935904|935905|940240|940241|941020|947775|956742|956743|960021|960772", + "upstreamId": "26967|26968|26968|26969|26969|26970|26970|26971|26971|26971|26972|26973|26973|26974|48325|48326|94405|94405|102137|103452|103456|103461|103463|103464|103466|103470|103470|103473|103478|103487|103491|103491|103493|103512|103512|103523|103524|103524|103525|103526|135084|135085|135085|135086|142016|142016|142017|142017|190748|190748|200230|231816|231816|231819|231819|231821|244709|244711|244712|244712|254395|254396|254397|315956|315957|315960|315963|323148|323150|323152|323152|323159|323188|323199|323220|329210|329211|329231|329232|329248|329248|329262|329265|330383|330386|330389|330396|330408|330408|330430|330432|444905|462167|481424|526895|527212|537210|565034|566309|571185|571186|571187|624452|640599|640600|640601|640602|640602|640603|640604|640605|652649|775896|779494|779494|784267|799664|800361|839260|839261|839262|839263|839264|839265|839266|839267|839267|839268|839269|869216|869217|869218|869219|869220|869221|869222|869223|869224|869225|869226|869227|935901|935902|935903|935904|935905|940240|940241|941020|947775|956742|956743|960021|960772", "text": "Mevalonic aciduria" }, { - "baseId": "26968|26968|26968|26969|26969|26970|26970|26971|26971|26971|26972|26972|26973|26973|26974|48324|48325|48326|94405|94405|94406|102137|103450|103451|103452|103452|103453|103454|103455|103456|103456|103457|103458|103459|103460|103461|103461|103462|103463|103463|103464|103464|103465|103466|103466|103468|103469|103470|103470|103471|103472|103473|103473|103474|103475|103476|103477|103478|103478|103479|103481|103483|103484|103485|103486|103487|103487|103488|103489|103490|103491|103491|103492|103493|103493|103494|103495|103496|103497|103498|103499|103500|103501|103502|103503|103504|103505|103507|103508|103509|103510|103511|103512|103512|103513|103514|103515|103516|103517|103518|103519|103520|103521|103522|103523|103523|103524|103524|103525|103526|103526|103527|103528|103529|103530|103531|103532|103533|103785|135084|135085|135085|135086|142016|142016|142017|142017|190748|190748|200230|231816|231816|231819|231819|231821|244709|244711|244712|244712|254395|254396|254397|315956|315957|315960|315963|323148|323150|323152|323152|323159|323188|323199|323220|329210|329211|329231|329232|329248|329248|329262|329265|330383|330386|330389|330396|330408|330408|330430|330432|444905|462167|526895|527212|537210|565034|566309|571185|571186|571187|624452|640599|640600|640601|640602|640602|640603|640604|640605|652649|775896|779494|779494|784267|791192|799664|800362|839260|839261|839262|839263|839264|839265|839266|839267|839267|839268|839269|869216|869217|869218|869219|869220|869221|869222|869223|869224|869225|869226|869227|935901|935902|935903|935904|935905|940240|940241|941020|947775|956742|956743|960021|960772|961963", + "upstreamId": "26968|26968|26968|26969|26969|26970|26970|26971|26971|26971|26972|26972|26973|26973|26974|48324|48325|48326|94405|94405|94406|102137|103450|103451|103452|103452|103453|103454|103455|103456|103456|103457|103458|103459|103460|103461|103461|103462|103463|103463|103464|103464|103465|103466|103466|103468|103469|103470|103470|103471|103472|103473|103473|103474|103475|103476|103477|103478|103478|103479|103481|103483|103484|103485|103486|103487|103487|103488|103489|103490|103491|103491|103492|103493|103493|103494|103495|103496|103497|103498|103499|103500|103501|103502|103503|103504|103505|103507|103508|103509|103510|103511|103512|103512|103513|103514|103515|103516|103517|103518|103519|103520|103521|103522|103523|103523|103524|103524|103525|103526|103526|103527|103528|103529|103530|103531|103532|103533|103785|135084|135085|135085|135086|142016|142016|142017|142017|190748|190748|200230|231816|231816|231819|231819|231821|244709|244711|244712|244712|254395|254396|254397|315956|315957|315960|315963|323148|323150|323152|323152|323159|323188|323199|323220|329210|329211|329231|329232|329248|329248|329262|329265|330383|330386|330389|330396|330408|330408|330430|330432|444905|462167|526895|527212|537210|565034|566309|571185|571186|571187|624452|640599|640600|640601|640602|640602|640603|640604|640605|652649|775896|779494|779494|784267|791192|799664|800362|839260|839261|839262|839263|839264|839265|839266|839267|839267|839268|839269|869216|869217|869218|869219|869220|869221|869222|869223|869224|869225|869226|869227|935901|935902|935903|935904|935905|940240|940241|941020|947775|956742|956743|960021|960772|961963", "text": "Hyperimmunoglobulin D with periodic fever" }, { - "baseId": "26968|103471|323176", + "upstreamId": "26968|103471|323176", "text": "MVK-Related Disorders" }, { - "baseId": "26976|26977|26978|26979|26980|102511", + "upstreamId": "26976|26977|26978|26979|26980|102511", "text": "MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB" }, { - "baseId": "26976|76679|102455|102492|102501|102508|102511|102514|186721|207423|308960|357521|369081|487098|699678|710620|710621|765879|765888|782671|832583|916978|978358|978359|978360|978361|978362|978363|978364|978365", + "upstreamId": "26976|76679|102455|102492|102501|102508|102511|102514|186721|207423|308960|357521|369081|487098|699678|710620|710621|765879|765888|782671|832583|916978|978358|978359|978360|978361|978362|978363|978364|978365", "text": "Maple syrup urine disease type 1B" }, { - "baseId": "26981|26984|26989|26990|26992|99919|623123|623124", + "upstreamId": "26981|26984|26989|26990|26992|99919|623123|623124", "text": "Maple syrup urine disease type 2" }, { - "baseId": "26982|26983|26991", + "upstreamId": "26982|26983|26991", "text": "Maple syrup urine disease, thiamine-responsive, type II" }, { - "baseId": "26985|26986|26987|26988", + "upstreamId": "26985|26986|26987|26988", "text": "Intermediate maple syrup urine disease type 2" }, { - "baseId": "26993|26994|26995|26996|26997|40041|98510|176929|192195|280088|280089|280093|280413|280414|280416|280428|280432|281738|281739|281744|281746|281765|281891|281892|281916|281919|353100|364921|365136|365141|365143|425351|442782|442783|498531|498538|511253|511254|513508|515792|540999|541002|541004|541006|541008|541015|541016|541113|541117|541118|541120|541121|541128|541130|541131|541133|541134|541136|541137|541139|541151|541157|557253|619994|627622|627623|627624|627625|627626|627627|690556|690557|690558|696612|746339|746340|758889|761784|761785|761788|761789|761790|761791|780630|789953|818946|823753|823754|850767|850768|864138|864139|864140|864141|864142|864143|864144|864145|864146|920145|921938|921939|921940|930416|930417|941860|952351|952352|952353|960426|971669|971670|971671|971672|971673|977520|977521|977522|977523|977524|977525|977526", + "upstreamId": "26993|26994|26995|26996|26997|40041|98510|176929|192195|280088|280089|280093|280413|280414|280416|280428|280432|281738|281739|281744|281746|281765|281891|281892|281916|281919|353100|364921|365136|365141|365143|425351|442782|442783|498531|498538|511253|511254|513508|515792|540999|541002|541004|541006|541008|541015|541016|541113|541117|541118|541120|541121|541128|541130|541131|541133|541134|541136|541137|541139|541151|541157|557253|619994|627622|627623|627624|627625|627626|627627|690556|690557|690558|696612|746339|746340|758889|761784|761785|761788|761789|761790|761791|780630|789953|818946|823753|823754|850767|850768|864138|864139|864140|864141|864142|864143|864144|864145|864146|920145|921938|921939|921940|930416|930417|941860|952351|952352|952353|960426|971669|971670|971671|971672|971673|977520|977521|977522|977523|977524|977525|977526", "text": "Deficiency of hydroxymethylglutaryl-CoA lyase" }, { - "baseId": 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"26998|26999|27000|27001|27002|39892|39894|101491|101492|101494|101495|101497|101498|176995|191571|196017|212656|221803|240439|240440|243908|253247|271349|273772|274111|306203|306204|306205|306206|310311|310312|310318|310319|315566|315567|315603|315610|315755|315757|315761|315763|315765|315782|315789|389212|396782|488264|491021|492066|523842|584405|584568|587816|620312|620808|626183|678068|678069|687328|900614|900615|900616|900617|900618|900619|900620|900621|900622|900623|900624|900625|900626|900627|900628|900629|900630|900631|906254|962720", "text": "Infantile nephronophthisis" }, { - "baseId": 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+ "upstreamId": 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"text": "Maple syrup urine disease, type 3" }, { - "baseId": "27005|27010|357558|620248", + "upstreamId": "27005|27010|357558|620248", "text": "DLD-Related Disorders" }, { - "baseId": 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"text": "Non-ketotic hyperglycinemia" }, { - "baseId": "27024|48278|79399|79402|79404|79418|203022|384510", + "upstreamId": "27024|48278|79399|79402|79404|79418|203022|384510", "text": "Generalized epilepsy" }, { - "baseId": "27031|27032|27033|27034|27035|34179|34180|34181|34182|34183|34184|34185|34186|34187|34188|34189|34190|34191|38457|187131|190401|190402|190807|191790|191898|254969|254970|254971|254972|254977|254979|254981|254982|254983|254984|254988|254990|320672|320675|320676|320687|320689|320690|329492|329493|329495|329496|329499|336071|336078|336081|336089|337998|338004|338005|490554|513344|528204|539053|566499|568106|568112|568121|572811|572813|620483|620484|620485|642497|642498|642499|642500|642501|642502|642503|652350|652469|714151|714152|725683|744805|754070|779629|779633|791412|816002|820628|841549|841550|851557|852745|871920|871921|871922|871923|871924|871925|871926|871927|871928|871929|871930|872368|872369|872370|872371|920335|927096|927097|936635|936636|948584|948585", + "upstreamId": "27031|27032|27033|27034|27035|34179|34180|34181|34182|34183|34184|34185|34186|34187|34188|34189|34190|34191|38457|187131|190401|190402|190807|191790|191898|254969|254970|254971|254972|254977|254979|254981|254982|254983|254984|254988|254990|320672|320675|320676|320687|320689|320690|329492|329493|329495|329496|329499|336071|336078|336081|336089|337998|338004|338005|490554|513344|528204|539053|566499|568106|568112|568121|572811|572813|620483|620484|620485|642497|642498|642499|642500|642501|642502|642503|652350|652469|714151|714152|725683|744805|754070|779629|779633|791412|816002|820628|841549|841550|851557|852745|871920|871921|871922|871923|871924|871925|871926|871927|871928|871929|871930|872368|872369|872370|872371|920335|927096|927097|936635|936636|948584|948585", "text": "Glycogen storage disease, type VI" }, { - "baseId": 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+ "upstreamId": 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"text": "Glycogen storage disease due to glucose-6-phosphatase deficiency type IA" }, { - "baseId": 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+ "upstreamId": 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"text": "Propionic acidemia" }, { - "baseId": "27065|27066|27067|27068|27069|40255", + "upstreamId": "27065|27066|27067|27068|27069|40255", "text": "Glutaric acidemia IIC" }, { - "baseId": "27070|27071|285755|285760|285761|285766|285768|285779|285785|285791|285792|285799|285800|285813|285815|285821|286464|286465|286466|286468|286501|286505|286506|286507|286515|286527|286538|286539|286540|288764|288766|288773|288774|288778|288785|288789|288790|288791|288794|289173|289183|289185|289186|289187|289188|289194|289203|289210|353569|719800|884536|884537|884538|884539|884540|884541|884542|884543|884544|884545|884546|884547|884548|884549|884550|884551|884552|884553|884554|884555|884556|884557|884558|884559|884560|884561|884562|887344|887345|887346", + "upstreamId": "27070|27071|285755|285760|285761|285766|285768|285779|285785|285791|285792|285799|285800|285813|285815|285821|286464|286465|286466|286468|286501|286505|286506|286507|286515|286527|286538|286539|286540|288764|288766|288773|288774|288778|288785|288789|288790|288791|288794|289173|289183|289185|289186|289187|289188|289194|289203|289210|353569|719800|884536|884537|884538|884539|884540|884541|884542|884543|884544|884545|884546|884547|884548|884549|884550|884551|884552|884553|884554|884555|884556|884557|884558|884559|884560|884561|884562|887344|887345|887346", "text": "Fructosuria, essential" }, { - "baseId": "27072|27073|27074|27075|27076|227267", + "upstreamId": "27072|27073|27074|27075|27076|227267", "text": "Prekallikrein deficiency" }, { - "baseId": "27077|27078|27079|27080|27081|138049|138050|138051|138052|138053|138054|138057|138058|138059|138063|138066|138067|215265|226494|239035|239036|239038|239039|250824|250831|250832|250836|250837|250838|250841|250845|250847|287808|287811|287815|287822|287823|287834|287837|287839|287841|287845|288498|288502|288503|288504|288506|288508|288509|288510|288512|288515|291416|291421|291422|291427|291434|291439|291440|291441|291450|291451|291452|291456|291526|291533|291534|291535|291537|291541|291542|291549|291552|291562|291563|291571|291578|291579|291587|291588|291596|291624|393135|393150|393152|393163|393334|393516|428109|428112|433549|451859|451899|452037|452041|452051|452068|508784|518661|559237|559239|559249|561059|612082|630672|654309|683524|689723|790306|790311|801068|801069|816308|887568|887569|887570|887571|887572|887573|887574|887575|887576|887577|887578|887579|887580|887581|887582|887583|887584|887585|887586|887587|891550|891551|891552|917960|917961|917962|917963|917964|917965|917966|917967|917968|917969|917970|917971|917972|917973|917974|917975|917976|917977|917978|917980|917981|917982|917983|917984|917986|917987|917988|917989|922967", + "upstreamId": "27077|27078|27079|27080|27081|138049|138050|138051|138052|138053|138054|138057|138058|138059|138063|138066|138067|215265|226494|239035|239036|239038|239039|250824|250831|250832|250836|250837|250838|250841|250845|250847|287808|287811|287815|287822|287823|287834|287837|287839|287841|287845|288498|288502|288503|288504|288506|288508|288509|288510|288512|288515|291416|291421|291422|291427|291434|291439|291440|291441|291450|291451|291452|291456|291526|291533|291534|291535|291537|291541|291542|291549|291552|291562|291563|291571|291578|291579|291587|291588|291596|291624|393135|393150|393152|393163|393334|393516|428109|428112|433549|451859|451899|452037|452041|452051|452068|508784|518661|559237|559239|559249|561059|612082|630672|654309|683524|689723|790306|790311|801068|801069|816308|887568|887569|887570|887571|887572|887573|887574|887575|887576|887577|887578|887579|887580|887581|887582|887583|887584|887585|887586|887587|891550|891551|891552|917960|917961|917962|917963|917964|917965|917966|917967|917968|917969|917970|917971|917972|917973|917974|917975|917976|917977|917978|917980|917981|917982|917983|917984|917986|917987|917988|917989|922967", "text": "Fanconi anemia, complementation group D2" }, { - "baseId": "27082|27083|27084|27085|27086|27086|27087|27088|27089|27090|27091|132985|132989|132991|132994|132995|132997|132998|132999|133000|133001|133004|133005|133007|138035|138036|138037|138040|138041|138043|138044|138046|140978|140979|140980|140983|140987|140988|140989|140990|180329|180331|180332|180333|180336|180337|180338|180339|180343|180344|180345|180347|180354|180355|180357|180358|180359|180364|186792|186793|186794|207730|207731|212673|212675|212683|212684|212685|212687|212689|215407|221834|221835|221838|221839|221843|221844|221846|221848|221849|221855|221856|221863|231721|231724|231728|231738|237216|240627|240629|240631|240634|240635|240638|240639|253595|253598|259928|308920|308922|308923|308924|308928|308939|308940|308944|308946|308952|313630|313634|313635|313636|313639|313644|313648|313652|313654|313658|313666|313678|313684|313685|319424|319426|319430|319431|319436|319437|319989|319990|319991|320001|320005|320027|320038|320045|320046|320050|320054|320058|357819|357820|357821|357822|357823|357824|357825|357826|357827|357828|357829|357830|357831|357832|357833|357834|357835|357836|357837|357838|357839|371006|371027|371034|371048|371373|371380|373207|396906|397128|397131|397149|397317|404784|407732|407735|407738|407740|407749|407750|407751|407753|407759|407763|407767|407768|407772|444541|444542|444544|459317|459325|459712|459720|460225|460242|474954|474961|475126|502987|503210|513303|524696|524702|524941|536781|544964|544971|544976|544977|544981|544982|544984|544987|544988|545271|545274|545275|545277|545278|545282|545284|545286|545288|545290|545360|545363|545369|545371|545374|545378|545380|545632|545638|545639|545643|563337|575792|575793|575794|575795|575796|575797|575798|620339|621309|638432|638436|638437|638439|638442|692713|695454|801681|801682|801683|801684|801685|809444|809450|809455|809466|809479|809485|809490|809494|809506|836331|836337|836341|902527|902528|902529|902530|902531|902532|902533|902534|902535|902536|902537|902538|902539|902540|902541|902542|902543|902544|902545|902546|902547|902548|902549|902550|902551|902552|902553|902554|902555|902556|902557|902558|903445|918116|918117|918118|918119|918123|918126|918128|918133|918134|918135|918136|918137|918138|921274|946693|972069|972070|972071|972072|972073|972074|972075|972076|978614", + "upstreamId": "27082|27083|27084|27085|27086|27086|27087|27088|27089|27090|27091|132985|132989|132991|132994|132995|132997|132998|132999|133000|133001|133004|133005|133007|138035|138036|138037|138040|138041|138043|138044|138046|140978|140979|140980|140983|140987|140988|140989|140990|180329|180331|180332|180333|180336|180337|180338|180339|180343|180344|180345|180347|180354|180355|180357|180358|180359|180364|186792|186793|186794|207730|207731|212673|212675|212683|212684|212685|212687|212689|215407|221834|221835|221838|221839|221843|221844|221846|221848|221849|221855|221856|221863|231721|231724|231728|231738|237216|240627|240629|240631|240634|240635|240638|240639|253595|253598|259928|308920|308922|308923|308924|308928|308939|308940|308944|308946|308952|313630|313634|313635|313636|313639|313644|313648|313652|313654|313658|313666|313678|313684|313685|319424|319426|319430|319431|319436|319437|319989|319990|319991|320001|320005|320027|320038|320045|320046|320050|320054|320058|357819|357820|357821|357822|357823|357824|357825|357826|357827|357828|357829|357830|357831|357832|357833|357834|357835|357836|357837|357838|357839|371006|371027|371034|371048|371373|371380|373207|396906|397128|397131|397149|397317|404784|407732|407735|407738|407740|407749|407750|407751|407753|407759|407763|407767|407768|407772|444541|444542|444544|459317|459325|459712|459720|460225|460242|474954|474961|475126|502987|503210|513303|524696|524702|524941|536781|544964|544971|544976|544977|544981|544982|544984|544987|544988|545271|545274|545275|545277|545278|545282|545284|545286|545288|545290|545360|545363|545369|545371|545374|545378|545380|545632|545638|545639|545643|563337|575792|575793|575794|575795|575796|575797|575798|620339|621309|638432|638436|638437|638439|638442|692713|695454|801681|801682|801683|801684|801685|809444|809450|809455|809466|809479|809485|809490|809494|809506|836331|836337|836341|902527|902528|902529|902530|902531|902532|902533|902534|902535|902536|902537|902538|902539|902540|902541|902542|902543|902544|902545|902546|902547|902548|902549|902550|902551|902552|902553|902554|902555|902556|902557|902558|903445|918116|918117|918118|918119|918123|918126|918128|918133|918134|918135|918136|918137|918138|921274|946693|972069|972070|972071|972072|972073|972074|972075|972076|978614", "text": "Fanconi anemia, complementation group C" }, { - "baseId": "27092|27093|27094|27095|27096|27097|27098|27099|27100|27101|27102|27103|27104|27119|40038|254820|319057|319065|319068|319069|319070|319078|319081|327504|327505|327512|327513|327515|327522|327523|327524|327532|333719|333751|333753|333757|333762|335397|335426|335433|335438|335441|611370|615536|615537|615538|615539|615540|615541|615542|615543|615544|615545|615546|615860|620466|725397|725398|730904|870784|870785|870786|870787|870788|870789|870790|870791|870792|870793|870794|872318", + "upstreamId": "27092|27093|27094|27095|27096|27097|27098|27099|27100|27101|27102|27103|27104|27119|40038|254820|319057|319065|319068|319069|319070|319078|319081|327504|327505|327512|327513|327515|327522|327523|327524|327532|333719|333751|333753|333757|333762|335397|335426|335433|335438|335441|611370|615536|615537|615538|615539|615540|615541|615542|615543|615544|615545|615546|615860|620466|725397|725398|730904|870784|870785|870786|870787|870788|870789|870790|870791|870792|870793|870794|872318", "text": "Factor X deficiency" }, { - "baseId": "27105", + "upstreamId": "27105", "text": "Factor x deficiency, autosomal dominant" }, { - "baseId": "27106", + "upstreamId": "27106", "text": "Factor VII Padua" }, { - "baseId": "27107|27108|27109|27110|27111|27112|27113|27114|27115|27116|27117|27119|27120|27121|27122|27123|27124|27125|27126|27127|27128|27129|254815|254816|254818|260038|319040|319051|319052|319057|319059|319064|319065|319066|319068|327482|327483|327484|327490|327496|327499|327501|327502|327504|327505|327509|327510|327511|327512|333696|333697|333714|333715|333716|333719|333723|333737|333743|333748|333749|333751|333753|333756|335367|335370|335376|335380|335381|335390|335397|335403|335410|335412|335426|335428|361209|390088|408803|408804|504461|615520|615521|615522|615523|615524|615525|615527|615528|615530|615531|615533|615535|615739|615740|615741|615742|615743|615744|620857|725395|725396|738970|796911|870757|870758|870759|870760|870761|870762|870763|870764|870765|870766|870767|870768|870769|870770|870771|870772|870773|870774|870775|870776|870777|870778|870779|870780|870781|870782|870783|872317", + "upstreamId": "27107|27108|27109|27110|27111|27112|27113|27114|27115|27116|27117|27119|27120|27121|27122|27123|27124|27125|27126|27127|27128|27129|254815|254816|254818|260038|319040|319051|319052|319057|319059|319064|319065|319066|319068|327482|327483|327484|327490|327496|327499|327501|327502|327504|327505|327509|327510|327511|327512|333696|333697|333714|333715|333716|333719|333723|333737|333743|333748|333749|333751|333753|333756|335367|335370|335376|335380|335381|335390|335397|335403|335410|335412|335426|335428|361209|390088|408803|408804|504461|615520|615521|615522|615523|615524|615525|615527|615528|615530|615531|615533|615535|615739|615740|615741|615742|615743|615744|620857|725395|725396|738970|796911|870757|870758|870759|870760|870761|870762|870763|870764|870765|870766|870767|870768|870769|870770|870771|870772|870773|870774|870775|870776|870777|870778|870779|870780|870781|870782|870783|872317", "text": "Factor VII deficiency" }, { - "baseId": "27118|27119", + "upstreamId": "27118|27119", "text": "Myocardial infarction, decreased susceptibility to" }, { - "baseId": "27130|27131|961561|961562", + "upstreamId": "27130|27131|961561|961562", "text": "Deficiency of bisphosphoglycerate mutase" }, { - "baseId": "27132|27133|27134|27135|27136|27137|27139|27140|27141|40087|40088|40089|45032|432331|441918|612312|612313|788900|962790|962791", + "upstreamId": "27132|27133|27134|27135|27136|27137|27139|27140|27141|40087|40088|40089|45032|432331|441918|612312|612313|788900|962790|962791", "text": "Apparent mineralocorticoid excess" }, { - "baseId": "27138|27139", + "upstreamId": "27138|27139", "text": "Apparent mineralocorticoid excess, mild" }, { - "baseId": "27142|27143|27144|27145|27146|27147|27148|27149|27150|27151|227286|623284|623285", + "upstreamId": "27142|27143|27144|27145|27146|27147|27148|27149|27150|27151|227286|623284|623285", "text": "Complement component 7 deficiency" }, { - "baseId": "27144", + "upstreamId": "27144", "text": "C7 and C6 deficiency, combined subtotal" }, { - "baseId": "27153", + "upstreamId": "27153", "text": "C6 deficiency, subtotal" }, { - "baseId": "27154|27155|27156|32077|38877|44259|205146|496803|788778", + "upstreamId": "27154|27155|27156|32077|38877|44259|205146|496803|788778", "text": "Complement component 6 deficiency" }, { - "baseId": "27157|27158|27159|27163|551236|614273", + "upstreamId": "27157|27158|27159|27163|551236|614273", "text": "Afibrinogenemia" }, { - "baseId": "27160|27161|27162|27164|27165|76488|76922|246959|291907|291908|291909|291914|291916|291922|291924|293307|293312|293318|293319|293323|293324|293325|293326|293327|296608|296616|296620|296626|296631|296632|296633|296634|296635|296637|296641|296642|296643|296644|296645|296649|296651|296654|296656|353663|406381|432292|513048|590272|614273|620139|623277|623278|730254|818228|818229|818230|818231|818232|889862|889863|889864|889865|889866|889867|889868|889869|889870|889871|889872|889873|891728|891729", + "upstreamId": "27160|27161|27162|27164|27165|76488|76922|246959|291907|291908|291909|291914|291916|291922|291924|293307|293312|293318|293319|293323|293324|293325|293326|293327|296608|296616|296620|296626|296631|296632|296633|296634|296635|296637|296641|296642|296643|296644|296645|296649|296651|296654|296656|353663|406381|432292|513048|590272|614273|620139|623277|623278|730254|818228|818229|818230|818231|818232|889862|889863|889864|889865|889866|889867|889868|889869|889870|889871|889872|889873|891728|891729", "text": "Atypical hemolytic-uremic syndrome 3" }, { - "baseId": "27166", + "upstreamId": "27166", "text": "C2 deficiency, type I" }, { - "baseId": "27167|27168", + "upstreamId": "27167|27168", "text": "C2 deficiency, type II" }, { - "baseId": "27169|27170|31114|31116|299764|299775|299776|299781|299782|299786|299793|302370|302371|302372|302382|302387|302388|302389|306761|306762|306777|306778|307086|307087|307088|307092|307093|307097|307101|353749|614299|895757|895758|895759|895760|895761|895762|895763|895764|895765|895766|895767|895768|895769|895770|895771|895772|895773|895774|895775|895776|895777|895778|895779|895780|895781|896217|896218|980457|980458", + "upstreamId": "27169|27170|31114|31116|299764|299775|299776|299781|299782|299786|299793|302370|302371|302372|302382|302387|302388|302389|306761|306762|306777|306778|307086|307087|307088|307092|307093|307097|307101|353749|614299|895757|895758|895759|895760|895761|895762|895763|895764|895765|895766|895767|895768|895769|895770|895771|895772|895773|895774|895775|895776|895777|895778|895779|895780|895781|896217|896218|980457|980458", "text": "Age-related macular degeneration 14" }, { - "baseId": "27169|31114|31115|31116|59668|227292|227293|299764|299768|299775|299776|299781|299782|299786|299793|299798|299801|299802|299810|299817|299818|302370|302371|302372|302382|302387|302388|302389|302401|302405|302413|306761|306762|306777|306778|306818|306825|307086|307087|307088|307092|307093|307097|307101|307117|353749|614299|895757|895758|895759|895760|895761|895762|895763|895764|895765|895766|895767|895768|895769|895770|895771|895772|895773|895774|895775|895776|895777|895778|895779|895780|895781|896217|896218|903543|961950|980457", + "upstreamId": "27169|31114|31115|31116|59668|227292|227293|299764|299768|299775|299776|299781|299782|299786|299793|299798|299801|299802|299810|299817|299818|302370|302371|302372|302382|302387|302388|302389|302401|302405|302413|306761|306762|306777|306778|306818|306825|307086|307087|307088|307092|307093|307097|307101|307117|353749|614299|895757|895758|895759|895760|895761|895762|895763|895764|895765|895766|895767|895768|895769|895770|895771|895772|895773|895774|895775|895776|895777|895778|895779|895780|895781|896217|896218|903543|961950|980457", "text": "Complement component 2 deficiency" }, { - "baseId": "27171|27172|27173|27174|27175|27176|27177|132031|132032|200052|237052|291025|291026|291034|291036|291044|291046|291048|291050|291062|291984|291990|291991|291992|295346|295347|295349|295572|295573|295577|295578|295582|295584|367614|452802|452806|519377|536282|559548|561640|578421|623134|631499|631500|631501|631502|631503|631504|631505|818386|828255|828256|889328|889329|889330|889331|889332|889333|889334|889335|889336|889337|889338|889339|889340|891684|920487|920488|923242|931994|931995|939946|953514|960515", + "upstreamId": "27171|27172|27173|27174|27175|27176|27177|132031|132032|200052|237052|291025|291026|291034|291036|291044|291046|291048|291050|291062|291984|291990|291991|291992|295346|295347|295349|295572|295573|295577|295578|295582|295584|367614|452802|452806|519377|536282|559548|561640|578421|623134|631499|631500|631501|631502|631503|631504|631505|818386|828255|828256|889328|889329|889330|889331|889332|889333|889334|889335|889336|889337|889338|889339|889340|891684|920487|920488|923242|931994|931995|939946|953514|960515", "text": "Carnitine acylcarnitine translocase deficiency" }, { - "baseId": "27178|27181", + "upstreamId": "27178|27181", "text": "Bombay phenotype" }, { - "baseId": "27179|27180|223368", + "upstreamId": "27179|27180|223368", "text": "Para-Bombay phenotype" }, { - "baseId": "27181|27986", + "upstreamId": "27181|27986", "text": "BOMBAY PHENOTYPE, DIGENIC" }, { - "baseId": "27189|27190|27191|27192|27193|27194|27195|27196|27197|27198|27199|27200|27201|27203|27207|27208|27209|27210|27211|27213|27214|27215|27216|27217|27218|27222|33491|76512|76514|76516|76517|76518|76519|186703|187078|187079|187080|187081|187082|187083|187084|187085|190758|193439|227294|227295|252234|260863|424373|439126|442474|442475|442476|576926|587370|612435|612438|612439|788798|789173|789174|789175|789176|789177|789178|789179|789180|789181|789182|789183|789184|789185|789186|789187|789188|789189|789190|789191|789192|789193|789194|789195|789196|789197|789198|789199|789200|789201|789202|789203|789204|789205|789206|789207|789208|789209|789210|789211|789212|789213|789214|789215|789216|789217|789218|789219|789220|789221|789222|789223|789224|789225|789226|789227|789228|789229|789230|789231|789232|789233|789234|789235|790612|790613", + "upstreamId": "27189|27190|27191|27192|27193|27194|27195|27196|27197|27198|27199|27200|27201|27203|27207|27208|27209|27210|27211|27213|27214|27215|27216|27217|27218|27222|33491|76512|76514|76516|76517|76518|76519|186703|187078|187079|187080|187081|187082|187083|187084|187085|190758|193439|227294|227295|252234|260863|424373|439126|442474|442475|442476|576926|587370|612435|612438|612439|788798|789173|789174|789175|789176|789177|789178|789179|789180|789181|789182|789183|789184|789185|789186|789187|789188|789189|789190|789191|789192|789193|789194|789195|789196|789197|789198|789199|789200|789201|789202|789203|789204|789205|789206|789207|789208|789209|789210|789211|789212|789213|789214|789215|789216|789217|789218|789219|789220|789221|789222|789223|789224|789225|789226|789227|789228|789229|789230|789231|789232|789233|789234|789235|790612|790613", "text": "Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency" }, { - "baseId": "27190", + "upstreamId": "27190", "text": "Adenoma, cortisol-producing" }, { - "baseId": "27190", + "upstreamId": "27190", "text": "Carcinoma, adrenocortical, androgen-secreting" }, { - "baseId": "27193|27201|27202", + "upstreamId": "27193|27201|27202", "text": "21-HYDROXYLASE POLYMORPHISM" }, { - "baseId": "27194", + "upstreamId": "27194", "text": "Adrenal hyperplasia" }, { - "baseId": "27219|27220", + "upstreamId": "27219|27220", "text": "Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency" }, { - "baseId": "27223|27224|27226|27227|27228|27229|27230|27231|27232|27233|45033|276147|276149|276150|276152|276153|276154|276411|276412|276419|276741|276743|276745|276748|276750|276751|276754|276756|276801|276802|276803|276808|496564|718138|718139|731629|731631|745607|758839|761115|780288|862092|862093|862094|862095|862096|864964|977422|977423|977424|977425", + "upstreamId": "27223|27224|27226|27227|27228|27229|27230|27231|27232|27233|45033|276147|276149|276150|276152|276153|276154|276411|276412|276419|276741|276743|276745|276748|276750|276751|276754|276756|276801|276802|276803|276808|496564|718138|718139|731629|731631|745607|758839|761115|780288|862092|862093|862094|862095|862096|864964|977422|977423|977424|977425", "text": "3 beta-Hydroxysteroid dehydrogenase deficiency" }, { - "baseId": "27234", + "upstreamId": "27234", "text": "Major affective disorder 7, susceptibility to" }, { - "baseId": "27235|27236|27237|45557|45558|45559|54741|54743|54745|54746|54747|54748|54749|54750|54751|54753|54754|54755|54758|54759|54760|54761|54762|54764|54765|54765|54766|54767|54768|54769|54769|54770|54771|54772|54774|54775|54777|54778|54779|54781|54782|54783|54785|54786|54787|54788|54789|141603|141604|141605|175011|175015|175016|175019|175290|175291|175292|175293|175294|188808|189863|189864|189865|189866|189866|189867|189868|189869|189870|198286|198287|198291|198292|198293|198294|198295|198296|198297|198298|198299|198300|198304|198305|198306|224402|224403|229915|240842|240843|240844|240846|240847|258656|258661|311013|311015|311016|311017|311021|311029|311040|316341|316341|316350|316353|316354|316357|316360|316364|316373|316374|322416|322417|322421|322430|322431|322432|322439|322444|322459|323004|323006|323010|323012|323028|323040|323054|323064|323068|323069|323070|323085|323087|370882|371415|371431|371448|371797|397404|397405|397413|397414|397418|397420|397575|397578|397580|397799|397801|397805|397818|397930|397931|397940|397953|397958|404791|404791|407909|407910|407911|460136|460140|460141|460147|460154|460254|460257|460262|460263|460274|460509|460512|460526|460532|460941|460948|460949|460957|460960|460963|460965|480705|481133|497171|503433|503731|510220|514271|525378|525381|525384|525385|525386|525398|525458|525460|525462|525465|525481|525483|525487|525495|525497|525505|525573|525574|525576|525587|525588|525786|525787|550787|563937|563948|563949|564735|564742|564744|566481|566483|566488|566502|614990|639145|639146|639147|639148|639149|639150|639151|639152|639153|639154|639155|639156|639157|639158|639159|652009|652042|652260|656014|687672|692888|752262|752263|752264|767974|767976|796456|820240|820241|837278|837279|837280|837281|837282|837283|837284|837285|837286|837287|837288|837289|837290|837291|837292|837293|837294|837295|837296|837297|837298|837299|837300|837301|837302|837303|837304|837305|837306|851385|866256|866257|866258|866259|866260|866261|866262|866263|866264|866265|866266|866267|866268|866269|866270|866271|866272|866273|866274|868501|925921|925922|925923|925924|925925|925926|925927|925928|935171|935172|935173|935174|935175|935176|940965|940966|940967|947064|947065|947066|947067|947068|947069|947070|947071|947072|956203|956204|956205|956206|956207|956208|956209|959944|959945", + "upstreamId": "27235|27236|27237|45557|45558|45559|54741|54743|54745|54746|54747|54748|54749|54750|54751|54753|54754|54755|54758|54759|54760|54761|54762|54764|54765|54765|54766|54767|54768|54769|54769|54770|54771|54772|54774|54775|54777|54778|54779|54781|54782|54783|54785|54786|54787|54788|54789|141603|141604|141605|175011|175015|175016|175019|175290|175291|175292|175293|175294|188808|189863|189864|189865|189866|189866|189867|189868|189869|189870|198286|198287|198291|198292|198293|198294|198295|198296|198297|198298|198299|198300|198304|198305|198306|224402|224403|229915|240842|240843|240844|240846|240847|258656|258661|311013|311015|311016|311017|311021|311029|311040|316341|316341|316350|316353|316354|316357|316360|316364|316373|316374|322416|322417|322421|322430|322431|322432|322439|322444|322459|323004|323006|323010|323012|323028|323040|323054|323064|323068|323069|323070|323085|323087|370882|371415|371431|371448|371797|397404|397405|397413|397414|397418|397420|397575|397578|397580|397799|397801|397805|397818|397930|397931|397940|397953|397958|404791|404791|407909|407910|407911|460136|460140|460141|460147|460154|460254|460257|460262|460263|460274|460509|460512|460526|460532|460941|460948|460949|460957|460960|460963|460965|480705|481133|497171|503433|503731|510220|514271|525378|525381|525384|525385|525386|525398|525458|525460|525462|525465|525481|525483|525487|525495|525497|525505|525573|525574|525576|525587|525588|525786|525787|550787|563937|563948|563949|564735|564742|564744|566481|566483|566488|566502|614990|639145|639146|639147|639148|639149|639150|639151|639152|639153|639154|639155|639156|639157|639158|639159|652009|652042|652260|656014|687672|692888|752262|752263|752264|767974|767976|796456|820240|820241|837278|837279|837280|837281|837282|837283|837284|837285|837286|837287|837288|837289|837290|837291|837292|837293|837294|837295|837296|837297|837298|837299|837300|837301|837302|837303|837304|837305|837306|851385|866256|866257|866258|866259|866260|866261|866262|866263|866264|866265|866266|866267|866268|866269|866270|866271|866272|866273|866274|868501|925921|925922|925923|925924|925925|925926|925927|925928|935171|935172|935173|935174|935175|935176|940965|940966|940967|947064|947065|947066|947067|947068|947069|947070|947071|947072|956203|956204|956205|956206|956207|956208|956209|959944|959945", "text": "Dilated cardiomyopathy 1W" }, { - "baseId": "27236|27237|54765|54769|189866|198305|214108|316341|404791|481133|550787", + "upstreamId": "27236|27237|54765|54769|189866|198305|214108|316341|404791|481133|550787", "text": "Familial hypertrophic cardiomyopathy 15" }, { - "baseId": "27238|213984|413946|459741|460188|525347|687609|692818|692819|701274|712294|919263|925778|946848|946849", + "upstreamId": "27238|213984|413946|459741|460188|525347|687609|692818|692819|701274|712294|919263|925778|946848|946849", "text": "Cataract 30" }, { - "baseId": "27239|27240|27241|34233|70506|75338|136147|136149|136150|136151|136152|136153|136154|136155|136156|136158|136159|136160|136161|191375|207711|207713|207714|207717|207719|307964|307970|307975|307981|307987|307989|307990|307992|307993|307997|312309|312311|312323|312326|312327|312337|312339|312342|317994|318001|318007|318020|318033|318035|318559|318563|318566|318574|318586|318591|318598|370356|370860|425841|428998|429004|622893|767370|802170|901760|901761|901762|901763|901764|901765|901766|901767|901768|901769|901770|901771|901772|901773|901774|901775|901776|901777|901778|901779|901780|901781|901782|901783|901784|901785|901786|901787|901788|901789|901790|901791|901792|901793|901794|903375|903376|903377", + "upstreamId": "27239|27240|27241|34233|70506|75338|136147|136149|136150|136151|136152|136153|136154|136155|136156|136158|136159|136160|136161|191375|207711|207713|207714|207717|207719|307964|307970|307975|307981|307987|307989|307990|307992|307993|307997|312309|312311|312323|312326|312327|312337|312339|312342|317994|318001|318007|318020|318033|318035|318559|318563|318566|318574|318586|318591|318598|370356|370860|425841|428998|429004|622893|767370|802170|901760|901761|901762|901763|901764|901765|901766|901767|901768|901769|901770|901771|901772|901773|901774|901775|901776|901777|901778|901779|901780|901781|901782|901783|901784|901785|901786|901787|901788|901789|901790|901791|901792|901793|901794|903375|903376|903377", "text": "Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1" }, { - "baseId": "27240|27241", + "upstreamId": "27240|27241", "text": "Cerebellar ataxia and mental retardation with quadrupedal locomotion 1" }, { - "baseId": "27243|27244|27245|27246|27247|27248|27249|27250|27251|27252|27253|27254|27255|27256|27257|27259|27260|27261|354183|964529", + "upstreamId": "27243|27244|27245|27246|27247|27248|27249|27250|27251|27252|27253|27254|27255|27256|27257|27259|27260|27261|354183|964529", "text": "Neurohypophyseal diabetes insipidus" }, { - "baseId": "27258", + "upstreamId": "27258", "text": "Diabetes insipidus, neurohypophyseal, autosomal recessive" }, { - "baseId": "27262", + "upstreamId": "27262", "text": "Microvascular complications of diabetes 1" }, { - "baseId": "27263|29485", + "upstreamId": "27263|29485", "text": "Atherosclerosis, susceptibility to" }, { - "baseId": 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"27264|27265|27266|27267|27268|27269|53387|53388|53389|53390|53392|53393|53394|53395|53396|53397|53398|176751|176754|176755|178235|178236|178267|231305|231334|231335|231336|231337|231338|231395|231400|231401|264108|287114|287115|287121|287124|287125|287136|287137|287846|287851|287852|287867|290346|290347|290365|290382|290383|290389|290395|353575|511434|511435|542147|542315|542317|542319|620091|623271|626131|655472|697633|733544|733545|759186|763384|781427|790289|885396|885397|885398|885399|885400|885401|885402|885403|887388|887389|963356|977739|977740|977741|977742|977743|977744|977745|977746", "text": "Renal tubular acidosis with progressive nerve deafness" }, { - "baseId": 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"text": "Hereditary diffuse gastric cancer" }, { - "baseId": "27273|27289|231973", + "upstreamId": "27273|27289|231973", "text": "Breast cancer, lobular" }, { - "baseId": "27287|166264", + "upstreamId": "27287|166264", "text": "Gastric cancer, familial diffuse, and cleft lip with or without cleft palate" }, { - "baseId": "27293|27294|27295|27296|27297|27298|27299|27300|27301|27302|27303|48017|75598|100029|193523|195653|247416|275222|384414|431549|434935|439514|481500|553578|553592|791530|906184|962741|980352|980353|984043|984044", + "upstreamId": "27293|27294|27295|27296|27297|27298|27299|27300|27301|27302|27303|48017|75598|100029|193523|195653|247416|275222|384414|431549|434935|439514|481500|553578|553592|791530|906184|962741|980352|980353|984043|984044", "text": "Familial juvenile gout" }, { - "baseId": "27304|29054", + "upstreamId": "27304|29054", "text": "Alzheimer disease, late-onset, susceptibility to" }, { - "baseId": "27305|27306|27307|27308|27310|27311|27312|27314|27315|27316|27317|27318|27320|27322|168046|206952|206952|260860|271236|489783", + "upstreamId": "27305|27306|27307|27308|27310|27311|27312|27314|27315|27316|27317|27318|27320|27322|168046|206952|206952|260860|271236|489783", "text": "Crigler-Najjar syndrome type 1" }, { - "baseId": "27308|27313|27314|27314|27319|27320|27320|27325|27327|27328|40587|168042|168046|168047|168048|168053|194308|206952|206952|254471|271236|273839|274119|274667|285391|286034|288354|288356|288357|288358|288359|288775|288783|489783|491568|583212|585621|586242|587512|588639|733280|798981|798982|798983|798984|884201|884202|884203|884204|884205|884206|884207|884208|884209|884210|884211|884212|884213|884214|884215|884216|884217", + "upstreamId": "27308|27313|27314|27314|27319|27320|27320|27325|27327|27328|40587|168042|168046|168047|168048|168053|194308|206952|206952|254471|271236|273839|274119|274667|285391|286034|288354|288356|288357|288358|288359|288775|288783|489783|491568|583212|585621|586242|587512|588639|733280|798981|798982|798983|798984|884201|884202|884203|884204|884205|884206|884207|884208|884209|884210|884211|884212|884213|884214|884215|884216|884217", "text": "Gilbert's syndrome" }, { - "baseId": "27309|27313|27314|27314|27319|27320|27320|27323|27324|27325|27326|206952|271236|489463|489783", + "upstreamId": "27309|27313|27314|27314|27319|27320|27320|27323|27324|27325|27326|206952|271236|489463|489783", "text": "Crigler-Najjar syndrome, type II" }, { - "baseId": "27314|27314|27319|27320|27320|27321|168042|168046|168047|168048|168053|194308|206952|271236|273839|274119|274667|285391|286034|288354|288356|288357|288358|288359|288775|288783|489783|491568|585621|586242|587512|588639|733280|884201|884202|884203|884204|884205|884206|884207|884208|884209|884210|884211|884212|884213|884214|884215|884216|884217", + "upstreamId": "27314|27314|27319|27320|27320|27321|168042|168046|168047|168048|168053|194308|206952|271236|273839|274119|274667|285391|286034|288354|288356|288357|288358|288359|288775|288783|489783|491568|585621|586242|587512|588639|733280|884201|884202|884203|884204|884205|884206|884207|884208|884209|884210|884211|884212|884213|884214|884215|884216|884217", "text": "Lucey-Driscoll syndrome" }, { - "baseId": "27314|27314|27319|27320|27328|206952|271236|489783", + "upstreamId": "27314|27314|27319|27320|27328|206952|271236|489783", "text": "Bilirubin, serum level of, quantitative trait locus 1" }, { - "baseId": "27314|27319|540561|540562|540563", + "upstreamId": "27314|27319|540561|540562|540563", "text": "Irinotecan response" }, { - "baseId": "27319", + "upstreamId": "27319", "text": "irinotecan response - Other" }, { - "baseId": "27319|227745|227835", + "upstreamId": "27319|227745|227835", "text": "SN-38 response - Other" }, { - "baseId": "27325|620072", + "upstreamId": "27325|620072", "text": "UGT1A1-Related Disorders" }, { - "baseId": "27327", + "upstreamId": "27327", "text": "Gilbert syndrome, susceptibility to" }, { - "baseId": 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"27329|27330|27331|27332|45554|45555|45556|315876|315877|315878|323016|323018|323023|323024|323026|323034|323036|323043|323044|329045|329053|329054|329058|329059|329061|329083|329092|329094|329096|329107|329111|330261|330262|330263|330267|330272|330276|330283|330291|330299|434025|461582|461584|462161|526630|526638|565032|571181|571184|640589|640590|640591|640592|640593|652201|652258|713314|724868|753070|768873|768874|820441|839253|869166|869167|869168|869169|869170|869171|869172|869173|869174|869175|869176|869177|869178|869179|872185|926451|926452|926453|926454|926455|947771|947772|947773|947774|956739|960020", "text": "Hyper-IgM syndrome type 5" }, { - "baseId": "27335|27335|45580|48372|48373|76381|76382|76382|76383|99631|99633|177396|177396|214748|312567|312568|312571|312573|312573|312574|318549|318551|324674|324675|324687|324691|324691|324708|324709|324717|324717|325434|325442|353169|371272|371272|372014|372014|372221|372225|373916|373916|460915|461727|461729|504107|511902|525958|525958|526018|526021|526436|538419|565535|567071|570370|570371|622399|639793|639794|639795|639796|639797|639798|639799|652499|652510|692941|692943|701604|737801|737801|737802|744485|768251|788847|791114|791115|798638|820431|838059|838059|838060|838061|838062|838063|838064|838065|851822|867129|867130|867131|867132|867133|867134|926145|935411|935412|935413|935414|940205|947340|956418", + "upstreamId": "27335|27335|45580|48372|48373|76381|76382|76382|76383|99631|99633|177396|177396|214748|312567|312568|312571|312573|312573|312574|318549|318551|324674|324675|324687|324691|324691|324708|324709|324717|324717|325434|325442|353169|371272|371272|372014|372014|372221|372225|373916|373916|460915|461727|461729|504107|511902|525958|525958|526018|526021|526436|538419|565535|567071|570370|570371|622399|639793|639794|639795|639796|639797|639798|639799|652499|652510|692941|692943|701604|737801|737801|737802|744485|768251|788847|791114|791115|798638|820431|838059|838059|838060|838061|838062|838063|838064|838065|851822|867129|867130|867131|867132|867133|867134|926145|935411|935412|935413|935414|940205|947340|956418", "text": "DPAGT1-CDG" }, { - "baseId": "27335|45579|45580|45580|45581|45582|45583|76382|177396|312573|324691|324717|371272|372014|372221|372225|373916|460915|461727|461729|504107|511902|525958|526018|526021|526436|538419|565535|567071|570370|570371|622399|639793|639794|639795|639796|639797|639798|639799|652499|652510|692941|692943|701604|737801|737802|744485|768251|820431|838059|838060|838061|838062|838063|838064|838065|851822|926145|935411|935412|935413|935414|940205|947340|956418", + "upstreamId": "27335|45579|45580|45580|45581|45582|45583|76382|177396|312573|324691|324717|371272|372014|372221|372225|373916|460915|461727|461729|504107|511902|525958|526018|526021|526436|538419|565535|567071|570370|570371|622399|639793|639794|639795|639796|639797|639798|639799|652499|652510|692941|692943|701604|737801|737802|744485|768251|820431|838059|838060|838061|838062|838063|838064|838065|851822|926145|935411|935412|935413|935414|940205|947340|956418", "text": "Congenital myasthenic syndrome 13" }, { - "baseId": "27336|27337|246966|293414|293418|294806|294808|294817|298441|298445|298446|298447|298451|298505|298506|298512|298513|362490|698518|744105|890654|890655|890656|890657|890658|890659|890660|890661|890662|890663|890664|891793|891794", + "upstreamId": "27336|27337|246966|293414|293418|294806|294808|294817|298441|298445|298446|298447|298451|298505|298506|298512|298513|362490|698518|744105|890654|890655|890656|890657|890658|890659|890660|890661|890662|890663|890664|891793|891794", "text": "Parkinson disease 5" }, { - "baseId": 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+ "upstreamId": "27340|27341|27342|27343|27344|27345|27347|27348|27349|27350|27351|34157|34158|34159|34160|38397|38875|76399|142267|142269|171278|171279|188794|190294|191639|195272|205720|205721|231444|231445|237215|244241|244242|244243|244244|244246|244247|273732|276636|276637|276638|276640|276641|276643|276644|276646|276648|276902|276904|276910|276911|276916|276917|276919|276920|276921|276922|277483|277484|277501|277508|277513|277516|277517|277580|277581|277582|277584|277585|277599|364457|364459|364512|364518|364521|364531|364555|364603|364611|364613|404958|442643|442643|442644|447164|447165|447167|447171|447172|447241|447242|447246|447267|447271|447272|447320|447328|447333|447334|447334|447340|447347|498079|498148|498156|498161|515127|515132|515134|515140|515141|515142|515146|515147|515151|515154|515155|515156|515158|515168|515173|515175|515179|515180|515185|515186|515188|515192|515194|515286|515289|515292|515296|515297|515301|540663|540665|540666|540669|540680|556626|556628|556630|556632|556634|556636|556640|556685|556687|556689|556691|556693|556695|556697|556971|556973|556975|556977|556979|556981|558150|558152|558154|558156|558158|558160|558162|558164|575640|575643|575644|575645|575647|575648|575649|575650|575652|575653|611494|624974|624990|625727|625730|626932|626933|626934|626935|626936|626937|626938|626939|626940|626941|626942|626943|626944|626945|626946|626947|626948|626949|626950|626951|626952|626953|626954|626955|626956|626957|626958|626959|626960|626961|626962|626963|626964|626965|626966|650638|683291|690379|690380|690381|690382|690383|690384|690385|690386|690387|690388|690389|690390|695008|695009|696163|696164|696165|696166|696167|696168|706742|718284|731782|743691|743695|745751|745753|745755|745756|758809|758873|761261|761262|761265|761266|761267|761268|761270|761274|774396|780350|780355|789857|789858|789859|789860|789861|798913|799129|822830|822831|822832|822833|822834|822835|822836|822837|822838|822839|822840|822841|822842|822843|822844|822845|822846|822847|822848|822849|822850|822851|822852|822853|822854|822855|822856|822857|822858|822859|822860|850707|850731|862438|862439|862440|862441|862442|862443|862444|862445|862446|862447|862448|862449|862450|862451|864997|864998|864999|865000|865001|865002|865003|918569|921676|921677|921678|921679|921680|921681|921682|930078|930079|930080|930081|930082|930083|930084|930085|930086|930087|930088|939773|940601|940602|941511|941512|941513|952096|952097|952098|952099|952100|952101|952102|952103|952104|952105|952106|952107|952108|952109|952110|952111|966784|977450|977451|977452|977453|977454|977455|977456|977457|977458|977459|977460|977461|977462|977463|977464|977465|977466", "text": "Hereditary insensitivity to pain with anhidrosis" }, { - "baseId": "27347|28950|28953|28968|28970|28972|28972|28974|28975|28977|28980|28982|28983|28985|28985|28989|28990|36273|36309|38397|47216|231445|244246|244247|276643|276910|277501|442643|447167|447334|575639|575640|575641|575642|575644|575645|575646|575647|575648|575649|575650|575651|575652|575653|575653|966784", + "upstreamId": "27347|28950|28953|28968|28970|28972|28972|28974|28975|28977|28980|28982|28983|28985|28985|28989|28990|36273|36309|38397|47216|231445|244246|244247|276643|276910|277501|442643|447167|447334|575639|575640|575641|575642|575644|575645|575646|575647|575648|575649|575650|575651|575652|575653|575653|966784", "text": "Familial medullary thyroid carcinoma" }, { - "baseId": "27352|27353|27354|27355|75297|194943|195999|249490|249491|249492|249496|277049|277050|277053|277303|277304|277308|278038|278049|278065|278068|278078|278080|278117|278119|278131|278132|493083|578368|578369|619960|619961|619962|718343|731830|743675|799144|862640|862641|862642|862643|862644|862645|862646|862647|862648|862649|862650|862651|862652|862653|862654|862655|862656|865022|865023|865024|865025|904209", + "upstreamId": "27352|27353|27354|27355|75297|194943|195999|249490|249491|249492|249496|277049|277050|277053|277303|277304|277308|278038|278049|278065|278068|278078|278080|278117|278119|278131|278132|493083|578368|578369|619960|619961|619962|718343|731830|743675|799144|862640|862641|862642|862643|862644|862645|862646|862647|862648|862649|862650|862651|862652|862653|862654|862655|862656|865022|865023|865024|865025|904209", "text": "Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome" }, { - "baseId": "27358|27359|27360|27361|27362|133974|133975|133976|133977|133978|207496|253009|253010|253011|253017|303953|303997|304004|304006|304008|304026|304028|304030|304039|307501|307512|307514|307589|307591|307596|307598|307634|307635|307636|312558|312599|312601|312634|312642|312649|312666|312669|312671|312713|312714|312715|312725|312758|312762|312774|312775|312777|312780|540010|610600|610604|610608|730531|898749|898750|898751|898752|898753|898754|898755|898756|898757|898758|898759|898760|898761|898762|898763|898764|898765|898766|898767|898768|898769|898770|898771|898772|898773|900430|900431|900432|900433|900434", + "upstreamId": "27358|27359|27360|27361|27362|133974|133975|133976|133977|133978|207496|253009|253010|253011|253017|303953|303997|304004|304006|304008|304026|304028|304030|304039|307501|307512|307514|307589|307591|307596|307598|307634|307635|307636|312558|312599|312601|312634|312642|312649|312666|312669|312671|312713|312714|312715|312725|312758|312762|312774|312775|312777|312780|540010|610600|610604|610608|730531|898749|898750|898751|898752|898753|898754|898755|898756|898757|898758|898759|898760|898761|898762|898763|898764|898765|898766|898767|898768|898769|898770|898771|898772|898773|900430|900431|900432|900433|900434", "text": "Maturity-onset diabetes of the young, type 11" }, { - "baseId": "27374|27375|27376|27377|27378|27379|27380|27381|27382|27383|27384|27385|45724|103313|103314|103315|103316|103534|103535|103536|103537|103538|103539|103540|103541|103542|103543|103544|103545|103546|103547|103548|103549|103550|103551|103552|103553|103554|103555|103556|103557|103558|103559|103560|103561|103562|103563|103564|103565|103566|103567|103568|103569|103570|103571|103572|103573|103574|103575|103576|103577|103578|103579|103580|103581|103582|103583|103584|103585|103586|103587|103588|103589|103590|103591|103592|103593|103594|103595|103596|103597|103598|103599|103600|103601|103602|103603|103604|141383|141384|213624|213624|231847|231850|231851|231853|244834|244835|244836|254704|254705|318219|318226|318234|318235|318242|318243|326226|332465|332481|332496|332498|332500|334096|334100|334104|334105|334106|334108|334117|373236|375407|445071|462419|514272|527315|527632|527859|527863|537182|565674|565676|566999|567000|568162|571974|641347|641348|641349|641350|641351|652498|690049|695581|713691|725222|738810|753540|769258|769260|769261|784453|799723|799725|840190|840191|840192|840193|840194|840195|840196|840197|840198|840199|840200|840201|870260|870261|870262|870263|870264|870265|870266|870267|870268|870269|870270|872281|926709|926710|926711|926712|936225|936226|936227|936228|948133|960790", + "upstreamId": 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"text": "TNF receptor-associated periodic fever syndrome (TRAPS)" }, { - "baseId": 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"text": "Li-Fraumeni syndrome 1" }, { - "baseId": "27386|27393|27395|27405|27645|28939|29003|29005|29011|44227|45735|49881|53980|53985|54284|80852|83949|150855|171614|175540|179419|180995|181000|185366|185367|213392|213398|236461|236463|236468|236469|236481|242980|245074|263939|359197|362753|362826|362887|362912|363083|363092|363093|363094|363165|363201|363293|363294|363295|363296|363297|363302|363303|363304|363305|363322|363323|363390|363409|363410|363411|363412|363413|363414|363415|363453|363454|363455|363456|363457|363458|363459|363460|363461|363462|363463|363464|363465|363466|363467|363468|363484|363491|363492|363493|363494|363495|363496|363497|363498|363499|363500|363501|363502|363509|363510|363511|363528|363531|363534|363535|363574|363575|363576", + "upstreamId": 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"27386|27388|27394|27395|27398|27404|27405|28691|28692|28694|28695|28698|29000|38549|48304|133271|152428|166215|176503|181001|185366|185367|185375|185394|213402|213526|213943|226759|232035|236461|236469|236481|242980|245074|260191|362768|362770|362771|362772|362775|362865|362866|362895|362896|362928|363089|363242|363243|363278|363279|363308|363309|363313|363314|363315|363316|363317|363318|363355|363356|363360|363482|363483|363491|363492|363493|363515|363528|363531|363534|363535|363542|363543|363544|363545|363546|363547|363548|363558|363559", "text": "Brainstem glioma" }, { - "baseId": 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+ "upstreamId": 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"text": "Ovarian Serous Cystadenocarcinoma" }, { - "baseId": 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+ "upstreamId": 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"text": "Transitional cell carcinoma of the bladder" }, { - "baseId": "27386|27395|27397|27398|27403|27407|27641|27642|27645|27652|29009|29010|29013|44227|53970|87211|88528|133272|139098|150535|150855|151595|151897|151955|171613|171614|176503|179419|180995|181005|185345|185350|185394|213402|233761|236459|236462|236463|236469|236477|236479|242978|242980|362894|362912|363067|363068|363186|363197|363202|363241|363252|363258|363259|363260|363261|363262|363263|363268|363320|363391|363392|363464|363465|363466|363467|363468|363469|363470|363471|363472|363473|363474|363475|363476|363477|363484|363485|363486|363487|363488|363489|363490|363521|363522|363523|363524|363525|363529|363530|363531|363532|363533|363536|363537|363538|363542|363543|363544|363545|363546|363549|363550|363551|363552|363572|363573", + "upstreamId": "27386|27395|27397|27398|27403|27407|27641|27642|27645|27652|29009|29010|29013|44227|53970|87211|88528|133272|139098|150535|150855|151595|151897|151955|171613|171614|176503|179419|180995|181005|185345|185350|185394|213402|233761|236459|236462|236463|236469|236477|236479|242978|242980|362894|362912|363067|363068|363186|363197|363202|363241|363252|363258|363259|363260|363261|363262|363263|363268|363320|363391|363392|363464|363465|363466|363467|363468|363469|363470|363471|363472|363473|363474|363475|363476|363477|363484|363485|363486|363487|363488|363489|363490|363521|363522|363523|363524|363525|363529|363530|363531|363532|363533|363536|363537|363538|363542|363543|363544|363545|363546|363549|363550|363551|363552|363572|363573", "text": "Squamous cell carcinoma of the skin" }, { - "baseId": "27386|27423|432401|432410|432411", + "upstreamId": "27386|27423|432401|432410|432411", "text": "Choroid plexus carcinoma" }, { - "baseId": "27390", + "upstreamId": "27390", "text": "CODON 72 POLYMORPHISM" }, { - "baseId": "27390", + "upstreamId": "27390", "text": "paclitaxel response - Efficacy, Toxicity/ADR" }, { - "baseId": "27390", + "upstreamId": "27390", "text": "cyclophosphamide response - Efficacy, Toxicity/ADR" }, { - "baseId": "27390", + "upstreamId": "27390", "text": "antineoplastic agents response - Efficacy, Toxicity/ADR" }, { - "baseId": "27390", + "upstreamId": "27390", "text": "fluorouracil response - Efficacy, Toxicity/ADR" }, { - "baseId": "27390|227808", + "upstreamId": "27390|227808", "text": "cisplatin response - Efficacy, Toxicity/ADR" }, { - "baseId": "27391|31371|31378|920202", + "upstreamId": "27391|31371|31378|920202", "text": "Carcinoma of cervix" }, { - "baseId": "27393|27402|27403|27404|27411|181025", + "upstreamId": "27393|27402|27403|27404|27411|181025", "text": "Li-Fraumeni-like syndrome" }, { - "baseId": "27395|28694|96094|136706|136707|136708|136715|136717|136719|136720|136722|136723|137021|137022|137023|151642|550724", + "upstreamId": "27395|28694|96094|136706|136707|136708|136715|136717|136719|136720|136722|136723|137021|137022|137023|151642|550724", "text": "Sarcoma" }, { - "baseId": "27395|28372|45735|87659|87660|96841|363096|363097|363098|626059|626060|626061|626062|626063", + "upstreamId": "27395|28372|45735|87659|87660|96841|363096|363097|363098|626059|626060|626061|626062|626063", "text": "Lymphoma" }, { - "baseId": "27398|27422|27641|27642|27652|28694|28695|28698|28916|29000|31378|31381|40609|70450|133276|166563|174177|176503|185366|185367|213943|236481|362775|362914|363008|363016|363123|363222|363245|363246|363255|363264|363283|363298|363299|363300|363301|363336|363352|363353|363354|363394|363395|363491|363492|363493|363542|363543|363544|363566|363567|363568", + "upstreamId": "27398|27422|27641|27642|27652|28694|28695|28698|28916|29000|31378|31381|40609|70450|133276|166563|174177|176503|185366|185367|213943|236481|362775|362914|363008|363016|363123|363222|363245|363246|363255|363264|363283|363298|363299|363300|363301|363336|363352|363353|363354|363394|363395|363491|363492|363493|363542|363543|363544|363566|363567|363568", "text": "Papillary renal cell carcinoma, sporadic" }, { - "baseId": "27398|28694|28695|28698|133272|176503|213943|245074|362775|362873|363289|363290|363485|363486|363487|363488|363489|363490|363528|363542|363543|363544", + "upstreamId": "27398|28694|28695|28698|133272|176503|213943|245074|362775|362873|363289|363290|363485|363486|363487|363488|363489|363490|363528|363542|363543|363544", "text": "Carcinoma of gallbladder" }, { - "baseId": "27403|389215", + "upstreamId": "27403|389215", "text": "Pleomorphic xanthoastrocytoma" }, { - "baseId": "27404", + "upstreamId": "27404", "text": "Adenocarcinoma" }, { - "baseId": "27405", + "upstreamId": "27405", "text": "Thyroid gland undifferentiated (anaplastic) carcinoma" }, { - "baseId": "27407", + "upstreamId": "27407", "text": "Nasopharyngeal carcinoma" }, { - "baseId": "27407|27641|27642|27652|28694|28695|28698|28939|83949|139098|171613|213943|236477|245074|263939|359197|361709|362753|362775|363036|363194|363312|363528|363529|363530|363536|363537", + "upstreamId": "27407|27641|27642|27652|28694|28695|28698|28939|83949|139098|171613|213943|236477|245074|263939|359197|361709|362753|362775|363036|363194|363312|363528|363529|363530|363536|363537", "text": "Nasopharyngeal Neoplasms" }, { - "baseId": "27408|27409|27618|27641|27642|27652|40610|100947|139098|166215|173901|236477|260213|362768|362770|362771|362772|362929|363265|363266|363267|363293|363294|363295|363296|363297|363310|363348|363364|363365|363366|363367|363368|363369|363413|363414|363415|363518|363519|363520|363529|363530|473578|486679|486680|486681|486682|486683|486684|486685|486686|486687|486688|486689|486690|486691|486692|486693|486694", + "upstreamId": "27408|27409|27618|27641|27642|27652|40610|100947|139098|166215|173901|236477|260213|362768|362770|362771|362772|362929|363265|363266|363267|363293|363294|363295|363296|363297|363310|363348|363364|363365|363366|363367|363368|363369|363413|363414|363415|363518|363519|363520|363529|363530|473578|486679|486680|486681|486682|486683|486684|486685|486686|486687|486688|486689|486690|486691|486692|486693|486694", "text": "Adenoid cystic carcinoma" }, { - "baseId": "27413|27542|27558|209594|242512|258306|361860|363496|374588|389564|393403|401340|426686|443412|487074|508886|536912|550710|561355|570483|570491|614429|622642|792801|918826|973093|976548", + "upstreamId": "27413|27542|27558|209594|242512|258306|361860|363496|374588|389564|393403|401340|426686|443412|487074|508886|536912|550710|561355|570483|570491|614429|622642|792801|918826|973093|976548", "text": "Malignant tumor of esophagus" }, { - "baseId": "27418|27423", + "upstreamId": "27418|27423", "text": "Adrenocortical carcinoma, pediatric" }, { - "baseId": "27419", + "upstreamId": "27419", "text": "Choroid plexus papilloma" }, { - "baseId": "27424|27425", + "upstreamId": "27424|27425", "text": "TNF receptor binding, altered" }, { - "baseId": "27426|27427|28575|28576|29700", + "upstreamId": "27426|27427|28575|28576|29700", "text": "Malaria, cerebral, susceptibility to" }, { - "baseId": "27427", + "upstreamId": "27427", "text": "Septic shock, susceptibility to" }, { - "baseId": "27427", + "upstreamId": "27427", "text": "Human immunodeficiency virus dementia, susceptibility to" }, { - "baseId": "27427", + "upstreamId": "27427", "text": "Migraine without aura, susceptibility to" }, { - "baseId": "27428", + "upstreamId": "27428", "text": "Vascular dementia, susceptibility to" }, { - "baseId": "27429|45806", + "upstreamId": "27429|45806", "text": "Alzheimer disease, protection against" }, { - "baseId": 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"text": "Tuberous sclerosis 2" }, { - "baseId": 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"text": "Familial hypertrophic cardiomyopathy 2" }, { - "baseId": 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"text": "Left ventricular noncompaction 6" }, { - "baseId": 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+ "upstreamId": 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"text": "Familial restrictive cardiomyopathy 3" }, { - "baseId": 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+ "upstreamId": 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"text": "Costello syndrome" }, { - "baseId": "27453|576344", + "upstreamId": "27453|576344", "text": "Familial isolated dilated cardiomyopathy" }, { - "baseId": "27458|27459|27460|27461|27462|27471|27472|27473|45542|52532|52533|52534|52536|52537|52541|52542|52547|52548|52554|52558|52559|52561|52565|141388|141390|171245|176074|176215|176339|179836|186575|186585|186586|231083|257237|344272|349397|861652|882545|882546|882547|882548|882937|882938|980392", + "upstreamId": "27458|27459|27460|27461|27462|27471|27472|27473|45542|52532|52533|52534|52536|52537|52541|52542|52547|52548|52554|52558|52559|52561|52565|141388|141390|171245|176074|176215|176339|179836|186575|186585|186586|231083|257237|344272|349397|861652|882545|882546|882547|882548|882937|882938|980392", "text": "Familial hypertrophic cardiomyopathy 7" }, { - "baseId": 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"27460|40515|40525|45542|52531|52532|52533|52534|52536|52537|52541|52542|52547|52548|52561|54894|54903|136049|141388|141390|176339|179136|186575|186585|186586|231083|257237|257238|257239|257242|257243|257246|257247|257248|257251|257252|257253|302201|302204|302207|302210|302214|302217|302218|302225|305395|305441|305446|305448|305449|305450|305452|310209|310230|310235|310322|310359|334391|334413|344272|344273|349397|350406|350409|353523|353524|353525|882545|882546|882547|882548|882937|882938", "text": "Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome" }, { - "baseId": "27460|40515|40525|52531|52532|52534|52541|136049|141390|172233|257238|257239|257242|257243|257246|257247|257248|257251|257252|257253|306405|306413|310567|315937|315939|316166|334391|334413|344273|350406|350409|353523|353524|353525|447176|447181|447183|447187|447190|447198|447204|447206|447207|447209|447210|447247|447251|447256|447264|447273|447276|447281|447282|447284|447285|447287|447291|447297|447298|447300|447304|447308|447310|447312|447313|447354|447355|447358|447360|447363|447364|447370|447372|447374|447386|447389|447392|447393|515160|515163|515165|515167|515177|515183|515184|515187|515189|515191|515193|515196|515197|515199|515201|515205|515207|515209|515303|515304|515308|556642|556644|556699|556701|556703|556705|556983|556985|556987|556995|556996|558148|558166|558168|558170|558172|558174|626967|626968|626969|626970|626971|626972|626973|626974|626975|626976|626977|626978|626979|626980|626981|650545|690392|690393|690395|690396|690397|690398|695010|696162|696173|696176|706749|718285|729927|761279|777037|818847|822829|822861|822862|822863|822864|822865|822866|822867|822868|822869|822870|822871|822872|822873|822874|822875|822876|822877|822878|850736|851106|921683|921684|921685|921686|921687|921688|921689|921690|930089|930090|930091|930092|930093|930094|930095|930096|930097|939774|939775|941514|941515|941516|941517|952112|952113", + "upstreamId": "27460|40515|40525|52531|52532|52534|52541|136049|141390|172233|257238|257239|257242|257243|257246|257247|257248|257251|257252|257253|306405|306413|310567|315937|315939|316166|334391|334413|344273|350406|350409|353523|353524|353525|447176|447181|447183|447187|447190|447198|447204|447206|447207|447209|447210|447247|447251|447256|447264|447273|447276|447281|447282|447284|447285|447287|447291|447297|447298|447300|447304|447308|447310|447312|447313|447354|447355|447358|447360|447363|447364|447370|447372|447374|447386|447389|447392|447393|515160|515163|515165|515167|515177|515183|515184|515187|515189|515191|515193|515196|515197|515199|515201|515205|515207|515209|515303|515304|515308|556642|556644|556699|556701|556703|556705|556983|556985|556987|556995|556996|558148|558166|558168|558170|558172|558174|626967|626968|626969|626970|626971|626972|626973|626974|626975|626976|626977|626978|626979|626980|626981|650545|690392|690393|690395|690396|690397|690398|695010|696162|696173|696176|706749|718285|729927|761279|777037|818847|822829|822861|822862|822863|822864|822865|822866|822867|822868|822869|822870|822871|822872|822873|822874|822875|822876|822877|822878|850736|851106|921683|921684|921685|921686|921687|921688|921689|921690|930089|930090|930091|930092|930093|930094|930095|930096|930097|939774|939775|941514|941515|941516|941517|952112|952113", "text": "Dilated Cardiomyopathy, Recessive" }, { - "baseId": "27460|28456|28456|28457|28458|28459|28460|28461|28462|28463|28465|28465|28466|28467|28468|28469|28471|28473|28474|28475|28476|28477|28478|28479|28480|28481|28482|28483|28484|28485|28486|28487|28489|28490|28491|28492|28492|28493|28494|28495|28496|28497|28498|28499|28500|28502|28505|28507|45550|45551|45552|51713|52623|52624|52625|52626|141551|176542|176680|176681|179802|179804|179805|179806|179808|179808|179811|179812|179813|179816|189469|194297|198436|229100|230872|230873|245091|245092|245093|268248|331216|331218|346968|346970|346974|346975|348237|348238|376813|376815|402722|402791|442026|467969|469742|487972|488022|506936|516875|532239|532250|532260|532263|536022|570116|570118|570120|570121|571911|571914|571917|574739|574740|620897|647184|647185|647186|647187|647188|647189|647190|647191|653085|760730|760731|785892|791854|791855|791856|797668|821188|821200|846806|846807|846808|846809|846810|846811|846812|846813|851773|879163|879164|879165|879166|879167|879168|919795|920390|928690|928691|938416|938417|938418|938419|950501|950502|950503|958458", + "upstreamId": 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"text": "Amyloidogenic transthyretin amyloidosis" }, { - "baseId": "27460|45542|52532|52533|52534|52536|52537|52541|52542|52547|52548|52554|52559|52561|52567|141388|141390|176218|176339|186575|186585|186586|231083|257237|259051|344272|349397|882545|882546|882547|882548|882937|882938", + "upstreamId": "27460|45542|52532|52533|52534|52536|52537|52541|52542|52547|52548|52554|52559|52561|52567|141388|141390|176218|176339|186575|186585|186586|231083|257237|259051|344272|349397|882545|882546|882547|882548|882937|882938", "text": "Dilated cardiomyopathy 2A" }, { - "baseId": "27460|27462|27463|27464|27465|27467|27468|29101|45542|52532|52533|52534|52536|52537|52541|52542|52547|52548|52554|52559|52561|141388|141390|176073|176215|176339|186575|186585|186586|231083|257237|260536|260545|344272|349397|536005|882545|882546|882547|882548|882937|882938", + "upstreamId": "27460|27462|27463|27464|27465|27467|27468|29101|45542|52532|52533|52534|52536|52537|52541|52542|52547|52548|52554|52559|52561|141388|141390|176073|176215|176339|186575|186585|186586|231083|257237|260536|260545|344272|349397|536005|882545|882546|882547|882548|882937|882938", "text": "Familial restrictive cardiomyopathy 1" }, { - "baseId": "27469|27470|52554|52559|52559|176215|681872", + "upstreamId": "27469|27470|52554|52559|52559|176215|681872", "text": "Dilated cardiomyopathy 1FF" }, { - "baseId": "27474|27475|27478|29184|40531|40532|100020|135094|135095|135096|135097|135098|135099|135100|135101|135102|135103|135104|135105|135106|135107|135108|135109|135110|135111|135112|135113|207861|208344|208345|208349|254091|254100|254104|256047|256051|256054|256055|256056|256057|256058|256059|256060|256061|256062|256063|256064|256069|256070|256075|265977|313520|319735|319756|325800|325923|326878|326880|326881|327185|327186|327187|327192|327199|327200|327201|327202|327209|327210|327215|327216|327221|327228|327231|327245|327248|327252|327253|327254|327255|337030|337031|337032|337035|337043|337049|337053|337054|337057|337065|337071|337078|337082|337084|337085|337086|343251|343263|343264|343268|343270|343275|343278|343279|343283|343284|343289|343290|343292|343295|343302|343304|343305|343306|343310|343312|344858|344860|344863|344864|344865|344866|344867|344869|344872|344873|344875|344876|504193|513366|539022|578537|578665|679765|681917|694024|694026|694027|694031|694032|694033|694038|694041|695727|703943|867709|867728|867729|867730|867731|867733|868633|868635|868639|876409|876410|876411|876412|876413|876414|876415|876416|876417|876418|876419|876420|876421|876422|876423|876424|876425|876426|876427|876428|876429|876430|876431|876752|876753|876754|876755|876756|876757|876758|876759|876760|876761|876762|876763|876764|876765|880462|964359", + "upstreamId": "27474|27475|27478|29184|40531|40532|100020|135094|135095|135096|135097|135098|135099|135100|135101|135102|135103|135104|135105|135106|135107|135108|135109|135110|135111|135112|135113|207861|208344|208345|208349|254091|254100|254104|256047|256051|256054|256055|256056|256057|256058|256059|256060|256061|256062|256063|256064|256069|256070|256075|265977|313520|319735|319756|325800|325923|326878|326880|326881|327185|327186|327187|327192|327199|327200|327201|327202|327209|327210|327215|327216|327221|327228|327231|327245|327248|327252|327253|327254|327255|337030|337031|337032|337035|337043|337049|337053|337054|337057|337065|337071|337078|337082|337084|337085|337086|343251|343263|343264|343268|343270|343275|343278|343279|343283|343284|343289|343290|343292|343295|343302|343304|343305|343306|343310|343312|344858|344860|344863|344864|344865|344866|344867|344869|344872|344873|344875|344876|504193|513366|539022|578537|578665|679765|681917|694024|694026|694027|694031|694032|694033|694038|694041|695727|703943|867709|867728|867729|867730|867731|867733|868633|868635|868639|876409|876410|876411|876412|876413|876414|876415|876416|876417|876418|876419|876420|876421|876422|876423|876424|876425|876426|876427|876428|876429|876430|876431|876752|876753|876754|876755|876756|876757|876758|876759|876760|876761|876762|876763|876764|876765|880462|964359", "text": "Distal arthrogryposis type 2B" }, { - "baseId": "27475|208347|237493|247055|322600|322680|330009|330036|480565|514015|514096|514097|905018|905019|905020|905021|983306", + "upstreamId": "27475|208347|237493|247055|322600|322680|330009|330036|480565|514015|514096|514097|905018|905019|905020|905021|983306", "text": "Distal arthrogryposis" }, { - "baseId": "27475|480565|480566|480567", + "upstreamId": "27475|480565|480566|480567", "text": "Ulnar deviation of the wrist" }, { - "baseId": "27475", + "upstreamId": "27475", "text": "Calcaneovalgus deformity" }, { - "baseId": "27475", + "upstreamId": "27475", "text": "Congenital finger flexion contractures" }, { - "baseId": 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"27479|40515|40516|40517|40523|40525|103512|136048|136049|191025|257229|257235|334388|334390|344270|349393|349396|350399|350402|376864|376867|377843|430268|469272|469277|470781|470782|470786|471289|471291|488431|507573|532393|533388|533410|533449|533456|533948|533950|570286|571088|573413|575056|575057|575058|613976|648488|648489|648490|648491|648492|648493|648494|648495|653074|653472|653586|653636|694515|772907|778657|792815|848078|848079|848080|848081|851832|851834|858788|858789|882541|882542|882543|882544|882936|929114|929115|929116|938852|938853|938854|938855|941247|950921|950922|950923|950924|958738", "text": "Nemaline myopathy 5" }, { - "baseId": "27480|27481|27482|27484|53844|53844|53845|53846|53846|53848|53849|173801|173802|173943|173943|179069|179071|179073|179075|179077|179079|179080|221423|221424|229105|239289|260530|291189|291190|292148|292151|292151|295592|295721|367337|367338|368738|393757|393762|393766|393961|393963|394176|394179|453086|453105|453108|453121|453436|481126|481126|487102|495462|500616|519612|519615|519623|519872|559122|559124|559126|559128|559130|559132|563270|631741|631742|631743|651121|686457|686457|689745|691475|775027|819413|828508|828509|828510|923323|923324|932067|940762|943686|960524", + "upstreamId": "27480|27481|27482|27484|53844|53844|53845|53846|53846|53848|53849|173801|173802|173943|173943|179069|179071|179073|179075|179077|179079|179080|221423|221424|229105|239289|260530|291189|291190|292148|292151|292151|295592|295721|367337|367338|368738|393757|393762|393766|393961|393963|394176|394179|453086|453105|453108|453121|453436|481126|481126|487102|495462|500616|519612|519615|519623|519872|559122|559124|559126|559128|559130|559132|563270|631741|631742|631743|651121|686457|686457|689745|691475|775027|819413|828508|828509|828510|923323|923324|932067|940762|943686|960524", "text": "Dilated cardiomyopathy 1Z" }, { - "baseId": "27481|27481|27482|27482|27483|27484|27484|48431|53844|53844|53845|53846|53846|53848|53849|173801|173802|173943|173943|179069|179071|179073|179075|179077|179079|179080|221423|221424|229105|239289|260530|291189|291190|292148|292151|292151|295592|295721|367337|367338|368738|393757|393762|393766|393961|393963|394176|394179|453086|453105|453108|453121|453436|481126|481126|487102|495462|500616|519612|519615|519623|519872|559122|559124|559126|559128|559130|559132|563270|631741|631742|631743|651121|686457|686457|689745|691475|775027|819413|828508|828509|828510|923323|923324|932067|940762|943686|960524", + "upstreamId": "27481|27481|27482|27482|27483|27484|27484|48431|53844|53844|53845|53846|53846|53848|53849|173801|173802|173943|173943|179069|179071|179073|179075|179077|179079|179080|221423|221424|229105|239289|260530|291189|291190|292148|292151|292151|295592|295721|367337|367338|368738|393757|393762|393766|393961|393963|394176|394179|453086|453105|453108|453121|453436|481126|481126|487102|495462|500616|519612|519615|519623|519872|559122|559124|559126|559128|559130|559132|563270|631741|631742|631743|651121|686457|686457|689745|691475|775027|819413|828508|828509|828510|923323|923324|932067|940762|943686|960524", "text": "Familial hypertrophic cardiomyopathy 13" }, { - "baseId": 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+ "upstreamId": "27485|27486|27486|27487|27487|27488|27489|27489|27490|27492|27493|51279|150176|206725|206725|236875|236876|276423|276424|276425|276466|276470|276474|276477|276484|276490|276495|276498|276499|276500|276651|276653|276662|276663|276664|276666|276667|276677|276678|276685|276693|276703|276704|276710|277182|277187|277213|277218|277230|277231|277232|277237|277266|277269|277271|277275|277276|277276|277291|277293|277297|277318|277319|277329|277330|277333|277344|277366|277375|430975|447137|447221|447294|498039|515083|515208|515220|515222|552032|556489|556651|556651|612471|626844|626845|626846|761219|789847|789848|822748|850727|862275|862276|862277|862278|862279|862280|862281|862282|862283|862284|862285|862287|862288|862289|862291|862293|862294|862295|862296|862298|862299|862300|862302|862304|862305|862306|862308|862309|862310|862311|862312|862313|862314|862315|862316|862317|862318|862319|862320|862321|862322|862323|862324|862325|862326|862327|862328|862329|862330|862331|862332|862333|862334|862335|862336|862337|862338|862339|862340|862341|862342|862343|862344|862345|864981|921645|921646|921647|921648|952072|960406|963116|964129", "text": "Nemaline myopathy 1" }, { - "baseId": "27489|27493", + "upstreamId": "27489|27493", "text": "Cap myopathy 1" }, { - "baseId": "27494|27495|27496|40542|40544|40548|40549|52580|52591|52592|52619|141400|175996|176137|179749|323022|332635|332637|332642|339583|340975|340977|340980|340984|340985|615125|693707|802205|802206|873933|873934|873935|873936|873937|873938|873939|873940|876550|966357|971026", + "upstreamId": "27494|27495|27496|40542|40544|40548|40549|52580|52591|52592|52619|141400|175996|176137|179749|323022|332635|332637|332642|339583|340975|340977|340980|340984|340985|615125|693707|802205|802206|873933|873934|873935|873936|873937|873938|873939|873940|876550|966357|971026", "text": "Familial hypertrophic cardiomyopathy 3" }, { - "baseId": "27495|27497|27498|40544|40548|40549|52580|52590|52591|52592|52619|141400|175996|176137|248636|323022|332635|332637|332642|339583|340975|340977|340980|340984|340985|693707|873933|873934|873935|873936|873937|873938|873939|873940|876550|919585|919586|919587|980512", + "upstreamId": "27495|27497|27498|40544|40548|40549|52580|52590|52591|52592|52619|141400|175996|176137|248636|323022|332635|332637|332642|339583|340975|340977|340980|340984|340985|693707|873933|873934|873935|873936|873937|873938|873939|873940|876550|919585|919586|919587|980512", "text": "Dilated cardiomyopathy 1Y" }, { - "baseId": "27499|27501|27503|27504|100021|100022|100024|100025|150164|150174|178104|193519|194912|253550|274163|308279|308282|308294|312682|312683|312684|312692|319124|319129|319130|439464|444491|459224|459526|459528|460065|460073|460075|460082|502950|524620|524852|524985|525138|539022|552203|563259|565912|569071|578536|578537|622438|638296|638297|655964|655965|655966|692670|692671|775415|805017|805018|820139|836143|836144|836145|836146|836147|902009|902010|902011|902012|902013|902014|902015|902016|934772|965429", + "upstreamId": "27499|27501|27503|27504|100021|100022|100024|100025|150164|150174|178104|193519|194912|253550|274163|308279|308282|308294|312682|312683|312684|312692|319124|319129|319130|439464|444491|459224|459526|459528|460065|460073|460075|460082|502950|524620|524852|524985|525138|539022|552203|563259|565912|569071|578536|578537|622438|638296|638297|655964|655965|655966|692670|692671|775415|805017|805018|820139|836143|836144|836145|836146|836147|902009|902010|902011|902012|902013|902014|902015|902016|934772|965429", "text": "Distal arthrogryposis type 1A" }, { - "baseId": "27500|27501|27503|27504|100021|100022|150164|150174|226473|308279|308282|308294|312683|312684|312692|319124|319129|319130|460075|539022|608956|655964|655965|655966|902009|902010|902011|902012|902013|902014|902015|902016|965429", + "upstreamId": "27500|27501|27503|27504|100021|100022|150164|150174|226473|308279|308282|308294|312683|312684|312692|319124|319129|319130|460075|539022|608956|655964|655965|655966|902009|902010|902011|902012|902013|902014|902015|902016|965429", "text": "Nemaline myopathy 4" }, { - "baseId": "27502|619842|619843", + "upstreamId": "27502|619842|619843", "text": "ARTHROGRYPOSIS, DISTAL, TYPE 2B4" }, { - "baseId": "27504|27505|27506", + "upstreamId": "27504|27505|27506", "text": "Cap myopathy 2" }, { - "baseId": "27507|27509|27510|27511|27512|139884|139885|318369|318370|318372|318373|318374|318380|326497|326499|326508|326525|326526|326542|332747|334368|334374|334376|334381|334382|353255|353256|609859|615918|622418|725256|725257|799727|870376|870377|870378|870379|870380|870381|870382|870383|870384|870385|870386|870387|870388|870389|870390|872288|981826", + "upstreamId": "27507|27509|27510|27511|27512|139884|139885|318369|318370|318372|318373|318374|318380|326497|326499|326508|326525|326526|326542|332747|334368|334374|334376|334381|334382|353255|353256|609859|615918|622418|725256|725257|799727|870376|870377|870378|870379|870380|870381|870382|870383|870384|870385|870386|870387|870388|870389|870390|872288|981826", "text": "Triosephosphate isomerase deficiency" }, { - "baseId": "27508", + "upstreamId": "27508", "text": "Triosephosphate isomerase manchester" }, { - "baseId": "27513|27514|44673|45263|51676|53486|136111|171193|177252|186334|189960|193881|193925|193983|196533|196600|199336|227842|331167|398965|399928|522213|568296|622688|622689|624863|629097|966466|966485|966505", + "upstreamId": "27513|27514|44673|45263|51676|53486|136111|171193|177252|186334|189960|193881|193925|193983|196533|196600|199336|227842|331167|398965|399928|522213|568296|622688|622689|624863|629097|966466|966485|966505", "text": "Arrhythmogenic right ventricular dysplasia, familial 1" }, { - "baseId": "27513|45760|45761|45763|143119|153683|165589|189960|189961|189962|199890|209425|209426|209427|209429|209431|209432|209434|209442|224475|226713|226714|226715|226720|226721|228353|241889|241890|241891|241893|241894|241895|241896|241897|279021|279029|279031|279036|279038|279052|279057|279060|279076|279092|279098|279099|279114|279116|279117|279120|279124|279129|279132|279190|279191|279201|279217|279315|279317|279319|279322|279328|279331|279332|280476|280477|280478|280480|280481|280491|280500|280510|280511|280528|280529|280533|280534|280535|280537|280542|280548|280552|280553|280568|280570|280571|280572|280573|280574|280576|280579|280580|280581|280584|280609|280610|280614|280624|280625|280627|280629|330677|337312|339325|339326|361158|361850|364644|364755|364894|373181|374363|376206|376215|376217|391046|399744|399746|399925|399928|399933|399935|399946|399950|400296|400297|400537|400541|400543|400547|400548|405051|415404|445251|463499|463501|463508|463511|464101|464105|464107|464112|464114|464116|464123|464127|464134|464397|464498|464504|464505|464509|464516|464519|464522|480527|486712|504866|510506|510510|510513|510514|510517|512797|528301|528305|528309|528381|528760|528762|528768|528845|536167|537682|556784|566629|566631|566633|568286|568296|568297|569031|569032|569035|569037|572926|572928|572929|609899|611984|642729|642730|642731|642732|642733|642734|642735|642736|642737|642738|652883|652886|655064|684527|688371|784792|797070|799165|820650|841825|841826|841827|841828|841829|841830|841831|841832|841833|841834|851587|852015|863592|863593|863594|863595|863596|863597|863598|863599|863618|863619|863621|863622|863623|863624|863625|863626|863627|863628|863629|863630|863631|863632|863633|863634|863635|863636|863637|863638|863639|865116|865117|865118|927177|927178|927179|927180|936748|941067|948698|948699", + "upstreamId": "27513|45760|45761|45763|143119|153683|165589|189960|189961|189962|199890|209425|209426|209427|209429|209431|209432|209434|209442|224475|226713|226714|226715|226720|226721|228353|241889|241890|241891|241893|241894|241895|241896|241897|279021|279029|279031|279036|279038|279052|279057|279060|279076|279092|279098|279099|279114|279116|279117|279120|279124|279129|279132|279190|279191|279201|279217|279315|279317|279319|279322|279328|279331|279332|280476|280477|280478|280480|280481|280491|280500|280510|280511|280528|280529|280533|280534|280535|280537|280542|280548|280552|280553|280568|280570|280571|280572|280573|280574|280576|280579|280580|280581|280584|280609|280610|280614|280624|280625|280627|280629|330677|337312|339325|339326|361158|361850|364644|364755|364894|373181|374363|376206|376215|376217|391046|399744|399746|399925|399928|399933|399935|399946|399950|400296|400297|400537|400541|400543|400547|400548|405051|415404|445251|463499|463501|463508|463511|464101|464105|464107|464112|464114|464116|464123|464127|464134|464397|464498|464504|464505|464509|464516|464519|464522|480527|486712|504866|510506|510510|510513|510514|510517|512797|528301|528305|528309|528381|528760|528762|528768|528845|536167|537682|556784|566629|566631|566633|568286|568296|568297|569031|569032|569035|569037|572926|572928|572929|609899|611984|642729|642730|642731|642732|642733|642734|642735|642736|642737|642738|652883|652886|655064|684527|688371|784792|797070|799165|820650|841825|841826|841827|841828|841829|841830|841831|841832|841833|841834|851587|852015|863592|863593|863594|863595|863596|863597|863598|863599|863618|863619|863621|863622|863623|863624|863625|863626|863627|863628|863629|863630|863631|863632|863633|863634|863635|863636|863637|863638|863639|865116|865117|865118|927177|927178|927179|927180|936748|941067|948698|948699", "text": "Loeys-Dietz syndrome 4" }, { - "baseId": "27515|27516|138646|138660|138660|165578|178594|178757|213589|221811|223687|223688|224369|258556|258559|258583|258591|258594|258610|265345|270378|270379|270418|272323|361195|363225|370210|370282|370782|370791|396986|396996|397124|397338|397391|444444|459315|459333|459370|459780|465312|480522|510047|510064|510103|524714|563079|568846|581893|581894|581895|581896|581897|581898|581899|581900|581901|581902|581903|581904|581905|581906|581907|581908|581909|581910|614340|623396|672076|919208|919209|961613|964321|965624", + "upstreamId": "27515|27516|138646|138660|138660|165578|178594|178757|213589|221811|223687|223688|224369|258556|258559|258583|258591|258594|258610|265345|270378|270379|270418|272323|361195|363225|370210|370282|370782|370791|396986|396996|397124|397338|397391|444444|459315|459333|459370|459780|465312|480522|510047|510064|510103|524714|563079|568846|581893|581894|581895|581896|581897|581898|581899|581900|581901|581902|581903|581904|581905|581906|581907|581908|581909|581910|614340|623396|672076|919208|919209|961613|964321|965624", "text": "Aortic valve disorder" }, { - "baseId": "27517|27518|27519|27520|27521|27522|27523|27524|27525|27526|27527|27528|27529|27530|27531|27532|27533|27534|27535|27536|27537|27538|27539|47521|48121|48122|48123|48124|48125|48126|48127|48128|48129|48130|48131|48132|48133|48134|48135|48136|213952|227357|237394|244096|254935|254936|260054|260055|264584|264686|264694|264796|320400|320403|320404|320405|320406|320410|329095|329100|329105|329106|329124|329126|329128|329134|329135|335710|335711|335729|335747|335757|335758|335760|337546|337550|337554|337557|337558|337566|337573|337576|337578|360047|360057|360090|360147|360189|360191|360193|409111|414713|445218|445221|547123|547125|547129|547133|547137|547138|547147|547149|547150|547155|547156|547274|547280|547289|547292|547293|547301|547304|547306|547310|547314|547316|547317|547323|547436|547439|547444|547446|547449|547454|547455|547457|547459|547461|547465|547797|547800|547806|547810|547813|547814|547816|547818|547821|547822|547823|622234|622235|622236|622237|622238|622239|622240|622241|622242|622243|622263|622264|682508|702841|714090|714091|714093|725637|725638|725639|725643|725644|725645|730934|739183|739184|739185|739186|739187|744801|744812|754001|754002|754003|754004|754006|754007|754010|754011|760298|769757|769758|769759|769760|769761|769762|769765|769766|769773|769774|769775|775930|776263|778054|784705|802085|841350|871757|871758|871759|871760|871761|871762|871763|871764|871765|871766|871767|871768|871769|871770|871771|871772|871773|872366|979476|979477|979478|979479|979480|979481|979482|979483|979484|979485|979486|979487|979488|979489|979490|979491|979492|979493|979494|979495|979496|979497|979498|979499|979500|979501|979502|979503|979504|979505|979506|979507|979508|979509", + "upstreamId": "27517|27518|27519|27520|27521|27522|27523|27524|27525|27526|27527|27528|27529|27530|27531|27532|27533|27534|27535|27536|27537|27538|27539|47521|48121|48122|48123|48124|48125|48126|48127|48128|48129|48130|48131|48132|48133|48134|48135|48136|213952|227357|237394|244096|254935|254936|260054|260055|264584|264686|264694|264796|320400|320403|320404|320405|320406|320410|329095|329100|329105|329106|329124|329126|329128|329134|329135|335710|335711|335729|335747|335757|335758|335760|337546|337550|337554|337557|337558|337566|337573|337576|337578|360047|360057|360090|360147|360189|360191|360193|409111|414713|445218|445221|547123|547125|547129|547133|547137|547138|547147|547149|547150|547155|547156|547274|547280|547289|547292|547293|547301|547304|547306|547310|547314|547316|547317|547323|547436|547439|547444|547446|547449|547454|547455|547457|547459|547461|547465|547797|547800|547806|547810|547813|547814|547816|547818|547821|547822|547823|622234|622235|622236|622237|622238|622239|622240|622241|622242|622243|622263|622264|682508|702841|714090|714091|714093|725637|725638|725639|725643|725644|725645|730934|739183|739184|739185|739186|739187|744801|744812|754001|754002|754003|754004|754006|754007|754010|754011|760298|769757|769758|769759|769760|769761|769762|769765|769766|769773|769774|769775|775930|776263|778054|784705|802085|841350|871757|871758|871759|871760|871761|871762|871763|871764|871765|871766|871767|871768|871769|871770|871771|871772|871773|872366|979476|979477|979478|979479|979480|979481|979482|979483|979484|979485|979486|979487|979488|979489|979490|979491|979492|979493|979494|979495|979496|979497|979498|979499|979500|979501|979502|979503|979504|979505|979506|979507|979508|979509", "text": "Autosomal recessive congenital ichthyosis 1" }, { - "baseId": "27520|48145|213952|213955|360090|360854|361028|361275|513891|514093|514094|536019|609204|609271|801514", + "upstreamId": "27520|48145|213952|213955|360090|360854|361028|361275|513891|514093|514094|536019|609204|609271|801514", "text": "Ichthyosis (disease)" }, { - "baseId": "27540|27541|27550|27558|53818|209594|258306|361860|389564|393403|443412|561355|614261|614262", + "upstreamId": "27540|27541|27550|27558|53818|209594|258306|361860|389564|393403|443412|561355|614261|614262", "text": "Hereditary nonpolyposis colorectal cancer type 6" }, { - "baseId": 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+ "upstreamId": 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"text": "Loeys-Dietz syndrome" }, { - "baseId": 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"text": "Marfan syndrome" }, { - "baseId": 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+ "upstreamId": "27541|27543|27544|27545|27546|27547|27548|27549|27550|27551|27552|27553|27554|27555|27556|27557|27558|27558|27746|45526|45528|45535|45536|45537|45538|53818|53818|53819|53825|53828|53829|53830|53833|53837|53838|53839|53840|53841|53842|53843|141338|171083|173913|175752|175753|175756|175893|175894|175895|175896|175897|175898|178514|178659|178660|189917|189921|189922|189923|198463|198465|198466|198467|198468|209594|209628|209632|213550|230432|239131|241613|241614|251089|258306|289903|289914|289915|289924|289927|289944|290674|290679|290685|290688|290690|290692|290693|290694|290696|293827|293828|293829|293833|293839|293842|293843|293870|293876|294355|294356|294362|294364|294367|294373|294376|294377|318742|318743|333225|334943|361860|372598|375478|380155|389564|389564|393403|399090|399598|399601|399859|399862|419286|443412|445104|445106|462539|462541|462543|462819|462823|462828|462831|463297|463408|463409|504127|504690|505103|510406|527425|527429|527708|527711|527958|527968|527970|552072|561355|562661|565775|565779|565781|567093|567096|567097|567098|568207|572154|614261|614262|641506|641507|641508|641509|641510|641511|684378|769367|784499|840474|840475|840476|840477|840478|840479|840480|840481|840482|840483|840484|888650|888651|888652|888653|888654|888655|888656|888657|888658|888659|888660|888661|888662|891634|926789|926790|936319|936320|936321|936322|948244|948245|957010|957011|957012|967179", "text": "Loeys-Dietz syndrome 2" }, { - "baseId": 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+ "upstreamId": 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"text": "Epilepsy, familial temporal lobe, 7" }, { - "baseId": 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+ "upstreamId": 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"text": "Loeys-Dietz syndrome 1" }, { - "baseId": "27565|38870|38871|38872|38873|210166", + "upstreamId": "27565|38870|38871|38872|38873|210166", "text": "Multiple self-healing squamous epithelioma" }, { - "baseId": "27567|27568|27569|27570|27571|27572|27573|47494|47495|47500|47501|47503|47504|47505|47506|47908|622462|791931|791932", + "upstreamId": "27567|27568|27569|27570|27571|27572|27573|47494|47495|47500|47501|47503|47504|47505|47506|47908|622462|791931|791932", "text": "Diaphyseal dysplasia" }, { - "baseId": "27573", + "upstreamId": "27573", "text": "Breast cancer, invasive, susceptibility to" }, { - "baseId": "27574|27575|27576|27578|27581|27582|27584|27585|27586|27588|27589|27590|27591|27592|27593|27596|27597|27598|27602|27603|27604|27605|27606|27607|27609|195583|251085|251086|289816|289819|289824|289828|289829|289832|289834|289836|289841|289847|289851|289865|289866|289869|289872|289877|289879|289884|289886|289892|289901|290576|290580|290581|290590|290591|290593|290597|290605|290610|290611|290617|290618|290619|290623|290629|290637|290643|290658|290661|290662|290664|290669|293658|293671|293674|293678|293679|293680|293684|293702|293707|293712|293713|293714|293719|293743|293745|293766|293769|293782|293783|293799|293802|293803|293804|293807|293810|293812|293817|294221|294222|294223|294226|294233|294278|294279|294308|294309|294311|294316|294325|294326|294327|294334|294345|294346|294354|362074|384479|420977|428167|432550|432553|432557|485711|485712|485713|485714|485715|485716|485717|485718|485719|485720|485721|485722|485723|485724|485725|485726|485727|485728|485729|536152|538610|698010|790381|888592|888593|888594|888595|888596|888597|888598|888599|888600|888601|888602|888603|888604|888605|888606|888607|888608|888609|888610|888611|888612|888613|888614|888615|888616|888617|888618|888619|888620|888621|888622|888623|888624|888625|888626|888627|888628|888629|888630|888631|888632|888633|888634|888635|888636|888637|888638|888639|888640|888641|888642|888643|888644|888645|888646|888647|888648|888649|891633", + "upstreamId": "27574|27575|27576|27578|27581|27582|27584|27585|27586|27588|27589|27590|27591|27592|27593|27596|27597|27598|27602|27603|27604|27605|27606|27607|27609|195583|251085|251086|289816|289819|289824|289828|289829|289832|289834|289836|289841|289847|289851|289865|289866|289869|289872|289877|289879|289884|289886|289892|289901|290576|290580|290581|290590|290591|290593|290597|290605|290610|290611|290617|290618|290619|290623|290629|290637|290643|290658|290661|290662|290664|290669|293658|293671|293674|293678|293679|293680|293684|293702|293707|293712|293713|293714|293719|293743|293745|293766|293769|293782|293783|293799|293802|293803|293804|293807|293810|293812|293817|294221|294222|294223|294226|294233|294278|294279|294308|294309|294311|294316|294325|294326|294327|294334|294345|294346|294354|362074|384479|420977|428167|432550|432553|432557|485711|485712|485713|485714|485715|485716|485717|485718|485719|485720|485721|485722|485723|485724|485725|485726|485727|485728|485729|536152|538610|698010|790381|888592|888593|888594|888595|888596|888597|888598|888599|888600|888601|888602|888603|888604|888605|888606|888607|888608|888609|888610|888611|888612|888613|888614|888615|888616|888617|888618|888619|888620|888621|888622|888623|888624|888625|888626|888627|888628|888629|888630|888631|888632|888633|888634|888635|888636|888637|888638|888639|888640|888641|888642|888643|888644|888645|888646|888647|888648|888649|891633", "text": "Thyroid hormone resistance, generalized, autosomal dominant" }, { - "baseId": "27577|27578|485726", + "upstreamId": "27577|27578|485726", "text": "Thyroid hormone resistance, generalized, autosomal recessive" }, { - "baseId": "27579|27580|27583|27587|27599|27600", + "upstreamId": "27579|27580|27583|27587|27599|27600", "text": "Thyroid hormone resistance, generalized" }, { - "baseId": "27593|289842|289852|289859|289870|290582|290583|290584|290596|290598|290604|290639|290642|293687|293688|293689|293690|293691|293692|293815|293816|294247|294249|294330|294332|294344|294352|428167", + "upstreamId": "27593|289842|289852|289859|289870|290582|290583|290584|290596|290598|290604|290639|290642|293687|293688|293689|293690|293691|293692|293815|293816|294247|294249|294330|294332|294344|294352|428167", "text": "Thyroid hormone resistance syndrome" }, { - "baseId": "27594|27595|27597|27601|27608|27610", + "upstreamId": "27594|27595|27597|27601|27608|27610", "text": "Thyroid hormone resistance, selective pituitary" }, { - "baseId": "27611|622415|788869|966797", + "upstreamId": "27611|622415|788869|966797", "text": "Lethal congenital contracture syndrome 2" }, { - "baseId": "27612", + "upstreamId": "27612", "text": "Colon cancer, advanced" }, { - "baseId": "27613|27614|27615|27616|96841", + "upstreamId": "27613|27614|27615|27616|96841", "text": "Burkitt lymphoma" }, { - "baseId": "27617|27618|27619|27621|27622|27623|27632|27639|27641|27642|27645|27652|28957|28958|29005|29022|44227|53985|54282|54283|54284|54291|166218|170209|173901|175715|263939|359197|362753|362840|362841|362845|362847|362912|363165|363197|363201|363323|363364|363365|363366", + "upstreamId": "27617|27618|27619|27621|27622|27623|27632|27639|27641|27642|27645|27652|28957|28958|29005|29022|44227|53985|54282|54283|54284|54291|166218|170209|173901|175715|263939|359197|362753|362840|362841|362845|362847|362912|363165|363197|363201|363323|363364|363365|363366", "text": "Neoplasm of the thyroid gland" }, { - "baseId": "27618|27639|28116|28126|31378|31387|50139|57897|57909|57914|57923|57933|57958|57966|57970|57973|57983|57985|58014|58018|58027|58039|58047|58118|58143|58146|58168|58173|58183|58186|58206|58207|58213|58221|58238|58242|75214|75215|75216|75217|75218|75219|75220|75221|75222|75223|75224|75225|75226|75227|75228|75229|75230|75231|75232|75233|75234|75235|75247|75627|75648|75707|132342|462915|463279|463892|568568", + "upstreamId": "27618|27639|28116|28126|31378|31387|50139|57897|57909|57914|57923|57933|57958|57966|57970|57973|57983|57985|58014|58018|58027|58039|58047|58118|58143|58146|58168|58173|58183|58186|58206|58207|58213|58221|58238|58242|75214|75215|75216|75217|75218|75219|75220|75221|75222|75223|75224|75225|75226|75227|75228|75229|75230|75231|75232|75233|75234|75235|75247|75627|75648|75707|132342|462915|463279|463892|568568", "text": "Urinary bladder cancer" }, { - "baseId": "27619|27621|27629|28940|48930|54290|614370", + "upstreamId": "27619|27621|27629|28940|48930|54290|614370", "text": "RAS-associated autoimmune leukoproliferative disorder" }, { - "baseId": "27619|194404|214479|362841", + "upstreamId": "27619|194404|214479|362841", "text": "OCULOECTODERMAL SYNDROME, SOMATIC" }, { - "baseId": "27620", + "upstreamId": "27620", "text": "Bladder cancer, transitional cell, somatic" }, { - "baseId": "27621|27639|27652|28695|28939|31366|31371|31398|44227|48246|48247|360854|827717", + "upstreamId": "27621|27639|27652|28695|28939|31366|31371|31398|44227|48246|48247|360854|827717", "text": "Epidermal nevus" }, { - "baseId": "27621|27622|27641|27651|27652|44227", + "upstreamId": "27621|27622|27641|27651|27652|44227", "text": "Nevus sebaceous" }, { - "baseId": "27621|28939|44227|170209|363204|614370", + "upstreamId": "27621|28939|44227|170209|363204|614370", "text": "Epidermal nevus syndrome" }, { - "baseId": "27621|27622|29000|178328|452274|513906|513959|514053|535365|535366|535367|535368|535369|535370|535371|535372|535373|535374|535375|535376|677974", + "upstreamId": "27621|27622|29000|178328|452274|513906|513959|514053|535365|535366|535367|535368|535369|535370|535371|535372|535373|535374|535375|535376|677974", "text": "Cerebral arteriovenous malformation" }, { - "baseId": "27621|83949|170209|363202|539145|539146|539147", + "upstreamId": "27621|83949|170209|363202|539145|539146|539147", "text": "Vascular Tumors Including Pyogenic Granuloma" }, { - "baseId": "27621|682729", + "upstreamId": "27621|682729", "text": "Primary low grade serous adenocarcinoma of ovary" }, { - "baseId": "27625|27626|27629|27629|27633|27634|40605|40606|48922|48930|614370", + "upstreamId": "27625|27626|27629|27629|27633|27634|40605|40606|48922|48930|614370", "text": "Cardiofaciocutaneous syndrome 2" }, { - "baseId": "27626|27627|27628|27629|27630|27635|27636|27640|28364|28366|28372|28379|28383|48922|48922|48930|48930|48934|48958|48964|48965|48969|48970|48977|48983|48998|49036|49153|49171|53782|55703|175394|363197|424626|432423|487033|537879|614370|624857|872157|972725|972731", + "upstreamId": "27626|27627|27628|27629|27630|27635|27636|27640|28364|28366|28372|28379|28383|48922|48922|48930|48930|48934|48958|48964|48965|48969|48970|48977|48983|48998|49036|49153|49171|53782|55703|175394|363197|424626|432423|487033|537879|614370|624857|872157|972725|972731", "text": "Noonan syndrome 3" }, { - "baseId": "27638|512968|512969|512970", + "upstreamId": "27638|512968|512969|512970", "text": "Dermatofibrosarcoma protuberans" }, { - "baseId": "27639|27641|27647|27648", + "upstreamId": "27639|27641|27647|27648", "text": "Myopathy, congenital, with excess of muscle spindles" }, { - "baseId": "27640|31370", + "upstreamId": "27640|31370", "text": "Spermatocytic seminoma" }, { - "baseId": "27641", + "upstreamId": "27641", "text": "Epidermal nevus with urothelial cancer, somatic" }, { - "baseId": "27641", + "upstreamId": "27641", "text": "Nevus, woolly hair" }, { - "baseId": "27651", + "upstreamId": "27651", "text": "Costello syndrome, severe" }, { - "baseId": "27652|31372|31378|31381|31387|31398|363127", + "upstreamId": "27652|31372|31378|31381|31387|31398|363127", "text": "Bladder carcinoma" }, { - "baseId": "27653", + "upstreamId": "27653", "text": "Transferrin variant d1" }, { - "baseId": "27654", + "upstreamId": "27654", "text": "Transferrin variant chi" }, { - "baseId": "27654|27655|27656|27658|27659|27660|27661|27662|214927|288854|288855|288865|288885|288893|288895|288903|288905|288909|289608|289609|289610|289611|289616|292594|292595|292596|292598|292600|292601|292608|292612|292613|292615|292618|292812|292813|292818|292822|292823|292824|292825|292828|620107|682854|708585|733806|759351|763639|888029|888030|888031|888032|888033|888034|888035|888036|888037|888038|888039|888040|888041|888042|888043|891573|891574", + "upstreamId": "27654|27655|27656|27658|27659|27660|27661|27662|214927|288854|288855|288865|288885|288893|288895|288903|288905|288909|289608|289609|289610|289611|289616|292594|292595|292596|292598|292600|292601|292608|292612|292613|292615|292618|292812|292813|292818|292822|292823|292824|292825|292828|620107|682854|708585|733806|759351|763639|888029|888030|888031|888032|888033|888034|888035|888036|888037|888038|888039|888040|888041|888042|888043|891573|891574", "text": "Atransferrinemia" }, { - "baseId": "27655", + "upstreamId": "27655", "text": "Transferrin variant b2" }, { - "baseId": "27656", + "upstreamId": "27656", "text": "Transferrin variant c1/c2" }, { - "baseId": "27657", + "upstreamId": "27657", "text": "Transferrin variant bv" }, { - "baseId": "27661", + "upstreamId": "27661", "text": "Iron deficiency anemia" }, { - "baseId": "27663|27664|27665|27666", + "upstreamId": "27663|27664|27665|27666", "text": "Leukemia, Philadelphia chromosome-positive, resistant to imatinib" }, { - "baseId": "27663|27666|138312|138319|226760|226887|362830|362831|362832|362833|362882|362909|362977|362978|363229|363307", + "upstreamId": "27663|27666|138312|138319|226760|226887|362830|362831|362832|362833|362882|362909|362977|362978|363229|363307", "text": "Lymphoblastic leukemia, acute, with lymphomatous features" }, { - "baseId": "27669|512925|791117|801269|972520", + "upstreamId": "27669|512925|791117|801269|972520", "text": "Sveinsson chorioretinal atrophy" }, { - "baseId": "27670|27671", + "upstreamId": "27670|27671", "text": "Posterior polymorphous corneal dystrophy 3" }, { - "baseId": "27672|27673", + "upstreamId": "27672|27673", "text": "Corneal dystrophy, Fuchs endothelial, 6" }, { - "baseId": 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"text": "Renal cysts and diabetes syndrome" }, { - "baseId": "27688|56736|56888|102219|172610|173163|198881|199203|199212|199237|199738|227229|266764|360828|481230|587151|818179|818635|970724|970727|970728|980305|983701", + "upstreamId": "27688|56736|56888|102219|172610|173163|198881|199203|199212|199237|199738|227229|266764|360828|481230|587151|818179|818635|970724|970727|970728|980305|983701", "text": "Familial hypertrophic cardiomyopathy 9" }, { - "baseId": 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"text": "Dilated cardiomyopathy 1G" }, { - "baseId": 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"text": "Tibial muscular dystrophy" }, { - "baseId": 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"text": "Limb-girdle muscular dystrophy, type 2J" }, { - "baseId": 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"text": "Myopathy, myofibrillar, 9, with early respiratory failure" }, { - "baseId": 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"text": "Myopathy, early-onset, with fatal cardiomyopathy" }, { - "baseId": 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+ "upstreamId": 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"text": "Carney complex, type 1" }, { - "baseId": "27704|426726", + "upstreamId": "27704|426726", "text": "Familial atrial myxoma" }, { - "baseId": "27709|27710|27714|426726", + "upstreamId": "27709|27710|27714|426726", "text": "Pigmented nodular adrenocortical disease, primary, 1" }, { - "baseId": "27712|30942|30943", + "upstreamId": "27712|30942|30943", "text": "Adrenocortical tumor, somatic" }, { - "baseId": "27713|27714|49468|49469|49815|176495|329605|339854|339860|339863|339865|339867|339871|339887|339895|339904|345597|346936|346948|346960|346961|346964|353452|376530", + "upstreamId": "27713|27714|49468|49469|49815|176495|329605|339854|339860|339863|339865|339867|339871|339887|339895|339904|345597|346936|346948|346960|346961|346964|353452|376530", "text": "Carney complex" }, { - "baseId": "27715|27716|27717|27718|27719|257609|273658|337914|337916|337917|337918|337923|337924|337927|337930|337934|337939|337943|337945|337955|337956|337957|337958|347527|347532|347536|347541|347543|347544|347548|347549|347552|347554|347570|347577|347581|347585|347589|347590|347595|347596|351429|351432|351433|351436|351437|351440|351441|351444|351445|351448|351449|351452|351453|351458|351459|351462|351463|351468|351469|351472|351473|351476|351480|352436|352437|352438|352439|352440|352442|352443|352474|352475|352478|352479|352480|352481|352482|352483|352484|352485|891149|891150|891151|891152|891153|891154|891155|891156|891157|891158|891159|891160|891161|891162|891163|891164|891165|891166|891167|891168|891169|891170|891171|891172|891173|891174|891175|891176|891177|919950", + "upstreamId": "27715|27716|27717|27718|27719|257609|273658|337914|337916|337917|337918|337923|337924|337927|337930|337934|337939|337943|337945|337955|337956|337957|337958|347527|347532|347536|347541|347543|347544|347548|347549|347552|347554|347570|347577|347581|347585|347589|347590|347595|347596|351429|351432|351433|351436|351437|351440|351441|351444|351445|351448|351449|351452|351453|351458|351459|351462|351463|351468|351469|351472|351473|351476|351480|352436|352437|352438|352439|352440|352442|352443|352474|352475|352478|352479|352480|352481|352482|352483|352484|352485|891149|891150|891151|891152|891153|891154|891155|891156|891157|891158|891159|891160|891161|891162|891163|891164|891165|891166|891167|891168|891169|891170|891171|891172|891173|891174|891175|891176|891177|919950", "text": "Sorsby fundus dystrophy" }, { - "baseId": "27720|27721|676987|676988", + "upstreamId": "27720|27721|676987|676988", "text": "Hypothyroidism, congenital, nongoitrous, 7" }, { - "baseId": "27723|27724|27725|27726|27727|249367|275959|276298|427630|761093|862011|964125", + "upstreamId": "27723|27724|27725|27726|27727|249367|275959|276298|427630|761093|862011|964125", "text": "Secondary hypothyroidism" }, { - "baseId": 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+ "upstreamId": "27728|27729|27730|27731|27732|27733|27734|27735|27736|27737|27738|27739|27740|27741|27742|27743|27744|27745|205157|214869|227318|253043|253045|253046|253048|253050|253051|253052|253053|253054|253055|253056|253057|253058|253059|270639|304276|304281|304284|304294|304295|304296|304298|304299|304300|304305|304306|304307|304308|304313|304318|304319|304320|304321|304326|304329|304330|304340|304342|304343|304350|304357|304358|307931|307933|307934|307939|307945|307956|307962|307968|307978|307979|307980|307983|307984|307994|307995|308005|308006|308054|308055|308056|308068|308098|308103|308105|308107|308108|313044|313055|313056|313057|313059|313061|313062|313063|313064|313065|313066|313070|313073|313087|313091|313092|313093|313095|313096|313097|313098|313101|313103|313104|313105|313106|313107|313111|313112|313118|313121|313127|313129|313130|313132|313134|313144|313162|313169|313170|313175|313177|313185|313186|313187|313188|363816|428763|428764|428764|428765|428766|428767|536111|620287|620288|620289|620290|620291|620292|620293|700398|700399|700400|700402|700403|700404|700406|700408|700409|700410|711289|711290|711291|711292|711293|711294|711295|711298|722852|722854|722855|722856|722859|722861|736436|736439|736443|736447|736448|736449|736452|736455|736459|736461|744441|744449|750912|750914|750920|750927|766550|775390|779392|790781|790782|790783|796123|898914|898915|898916|898917|898918|898919|898920|898921|898922|898923|898924|898925|898926|898927|898928|898929|898930|898931|898932|898933|898934|898935|898936|898937|898938|898939|898940|898941|898942|898943|898944|898945|898946|898947|898948|898949|898950|898951|898952|898953|898954|898955|898956|898957|898958|898959|898960|898961|898962|898963|898964|898965|898966|898967|898968|898969|898970|898971|898972|898973|898974|898975|898976|898977|898978|898979|898980|898981|898982|898983|898984|898985|898986|898987|898988|898989|900444|900445|900446|900447|900448|900449|900450|900451|903695|906175", "text": "Iodotyrosyl coupling defect" }, { - "baseId": "27729|240392|488076|610456|708658|739193|800373|800374|800375|800376|800379|800381|800385", + "upstreamId": "27729|240392|488076|610456|708658|739193|800373|800374|800375|800376|800379|800381|800385", "text": "Primary Ovarian Insufficiency" }, { - "baseId": "27746|53829|189921|227349|404811|512859", + "upstreamId": "27746|53829|189921|227349|404811|512859", "text": "Dilated cardiomyopathy 1T" }, { - "baseId": 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"27751|38860|48189", "text": "Platelet-type bleeding disorder 13, susceptibility to" }, { - "baseId": "27752|32176", + "upstreamId": "27752|32176", "text": "Lumbar disc herniation, susceptibility to" }, { - "baseId": "27753|27754|27755|27756|38858|143163|614472", + "upstreamId": "27753|27754|27755|27756|38858|143163|614472", "text": "Thrombophilia due to thrombomodulin defect" }, { - "baseId": "27753|27757|27758|27759|143163|334888|334892|334895|334897|334901|334904|334910|334913|334918|334922|334925|344760|344762|344763|344766|344773|344778|344780|344782|344783|344784|349720|349723|349724|349725|349726|349727|349730|349733|349734|349737|349739|350715|350718|350719|350722|350723|350727|350729|350732|350734|350736|350738|350740|350741|350743|350745|432342|614472|742296|797961|885868|885869|885870|885871|885872|885873|885874|885875|885876|885877|885878|885879|885880|885881|885882|885883|885884|885885|885886|885887|885888|885889|885890|885891|885892|885893", + "upstreamId": 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"text": "Dyskeratosis congenita, autosomal dominant, 2" }, { - "baseId": "27769|38855|38856|47714", + "upstreamId": "27769|38855|38856|47714", "text": "Dyskeratosis congenita, autosomal recessive, 4" }, { - "baseId": "27773|28774|28775|38716", + "upstreamId": "27773|28774|28775|38716", "text": "Coronary artery disease, susceptibility to" }, { - "baseId": "27778", + "upstreamId": "27778", "text": "Human immunodeficiency virus type 1, delayed disease progression with infection by" }, { - "baseId": "27779", + "upstreamId": "27779", "text": "Human immunodeficiency virus type 1, rapid disease progression with infection by" }, { - "baseId": "27780|75336|75337|296627|296628|296629|296636|296639|296640|296650|296652|296653|296655|296657|296662|296664|296669|296672|296679|296680|298492|298493|298494|298495|298496|298498|298499|298500|298507|298515|298517|298519|298534|298535|302632|302643|302648|302649|302661|302668|302671|302919|302920|302921|302928|302929|302942|302955|302964|454785|454786|512816|520959|520963|521396|521452|521465|521467|560239|560350|560352|563007|563009|564978|633673|633674|633675|633676|633677|633678|633679|633680|633681|633682|633683|651405|651435|709784|721351|734985|744211|749393|749394|764991|764994|774995|782234|830565|830566|830567|830568|830569|830570|830571|830572|830573|830574|830575|851272|852194|893710|893711|893712|893713|893714|893715|893716|893717|893718|893719|893720|893721|893722|893723|893724|893725|893726|893727|893728|893729|893730|893731|893732|893733|893734|893735|893736|893737|893738|896068|896069|896070|896071|896072|923963|923964|923965|923966|923967|923968|932807|932808|932809|932810|932811|932812|932813|932814|932815|944506|944507|961945", + "upstreamId": "27780|75336|75337|296627|296628|296629|296636|296639|296640|296650|296652|296653|296655|296657|296662|296664|296669|296672|296679|296680|298492|298493|298494|298495|298496|298498|298499|298500|298507|298515|298517|298519|298534|298535|302632|302643|302648|302649|302661|302668|302671|302919|302920|302921|302928|302929|302942|302955|302964|454785|454786|512816|520959|520963|521396|521452|521465|521467|560239|560350|560352|563007|563009|564978|633673|633674|633675|633676|633677|633678|633679|633680|633681|633682|633683|651405|651435|709784|721351|734985|744211|749393|749394|764991|764994|774995|782234|830565|830566|830567|830568|830569|830570|830571|830572|830573|830574|830575|851272|852194|893710|893711|893712|893713|893714|893715|893716|893717|893718|893719|893720|893721|893722|893723|893724|893725|893726|893727|893728|893729|893730|893731|893732|893733|893734|893735|893736|893737|893738|896068|896069|896070|896071|896072|923963|923964|923965|923966|923967|923968|932807|932808|932809|932810|932811|932812|932813|932814|932815|944506|944507|961945", "text": "Lymphoproliferative syndrome 1" }, { - "baseId": "27781|47516|47517|451480|451483|451749|451829|451833|518649|518743|518846|560995|614254|614255|630609|630610|630611|630612|630613|651010|719997|759157|763453|763454|774789|819280|819281|827095|827096|827097|827098|827099|827100|827101|827102|827103|827104|827105|922943|922944|922945|931614|931615|943144|943145|943146|943147|943148|953250|953251|959659|980448", + "upstreamId": "27781|47516|47517|451480|451483|451749|451829|451833|518649|518743|518846|560995|614254|614255|630609|630610|630611|630612|630613|651010|719997|759157|763453|763454|774789|819280|819281|827095|827096|827097|827098|827099|827100|827101|827102|827103|827104|827105|922943|922944|922945|931614|931615|943144|943145|943146|943147|943148|953250|953251|959659|980448", "text": "Cd8 deficiency, familial" }, { - "baseId": "27782|614354|799641|980466", + "upstreamId": "27782|614354|799641|980466", "text": "Common variable immunodeficiency 6" }, { - "baseId": "27783|27784|44470|44471|140393|312516|312519|318476|318478|318493|324593|324594|324596|325307|325314|325317|325319|325320|460900|487495|526014|526423|564448|570331|639739|639740|639741|639742|759838|759842|768222|783875|838023|838024|838025|838026|838027|838028|838029|838030|851427|867085|867086|867087|867088|867089|867090|867091|867092|867093|867094|867095|867096|867097|868606|868607|926136|956399", + "upstreamId": "27783|27784|44470|44471|140393|312516|312519|318476|318478|318493|324593|324594|324596|325307|325314|325317|325319|325320|460900|487495|526014|526423|564448|570331|639739|639740|639741|639742|759838|759842|768222|783875|838023|838024|838025|838026|838027|838028|838029|838030|851427|867085|867086|867087|867088|867089|867090|867091|867092|867093|867094|867095|867096|867097|868606|868607|926136|956399", "text": "Immunodeficiency 18" }, { - "baseId": "27785", + "upstreamId": "27785", "text": "Immunodeficiency 18, severe combined immunodeficiency variant" }, { - "baseId": "27786|27787|44469|178842|312522|318496|318499|324597|324598|325321|325323|325325|408277|461235|525950|526017|526425|526428|639743|639744|639745|639746|639747|639748|759916|768227|768228|768229|820428|838031|838032|838033|838034|838035|838036|838037|867098|867099|868608|926137|935405|947336|956400", + "upstreamId": "27786|27787|44469|178842|312522|318496|318499|324597|324598|325321|325323|325325|408277|461235|525950|526017|526425|526428|639743|639744|639745|639746|639747|639748|759916|768227|768228|768229|820428|838031|838032|838033|838034|838035|838036|838037|867098|867099|868608|926137|935405|947336|956400", "text": "Immunodeficiency 19" }, { - "baseId": "27788|27789|27790|27791|171727|404974|447345|447352|447361|447362|447366|447408|447464|515270|515300|515305|515349|556735|557030|558218|614188|627056|627057|650689|690407|695014|695015|731840|761311|761312|786983|822974|822975|850935|921729|921730|921731|921732|921733|921734|921735|930143|930144|930145|930146|930147|959530|980438", + "upstreamId": "27788|27789|27790|27791|171727|404974|447345|447352|447361|447362|447366|447408|447464|515270|515300|515305|515349|556735|557030|558218|614188|627056|627057|650689|690407|695014|695015|731840|761311|761312|786983|822974|822975|850935|921729|921730|921731|921732|921733|921734|921735|930143|930144|930145|930146|930147|959530|980438", "text": "Immunodeficiency due to defect in cd3-zeta" }, { - "baseId": "27792|27793|106498|312540|312541|312548|312549|318503|318516|324602|324608|324614|325331|325336|325344|325348|460902|460944|461237|525953|525954|526091|526094|564450|565528|567054|639749|639750|639751|639752|639753|639754|639755|787621|838038|838039|852332|867100|867101|867102|867103|867104|867105|867106|867107|867108|867109|926138|935406|940989|956401", + "upstreamId": "27792|27793|106498|312540|312541|312548|312549|318503|318516|324602|324608|324614|325331|325336|325344|325348|460902|460944|461237|525953|525954|526091|526094|564450|565528|567054|639749|639750|639751|639752|639753|639754|639755|787621|838038|838039|852332|867100|867101|867102|867103|867104|867105|867106|867107|867108|867109|926138|935406|940989|956401", "text": "Immunodeficiency 17" }, { - "baseId": "27794|27795", + "upstreamId": "27794|27795", "text": "Obesity, association with" }, { - "baseId": "27809", + "upstreamId": "27809", "text": "Leigh syndrome due to mitochondrial complex IV deficiency" }, { - "baseId": "27809|211361|211368|214997|214999|539019|539184", + "upstreamId": "27809|211361|211368|214997|214999|539019|539184", "text": "Charcot-Marie-Tooth disease, type 4k" }, { - "baseId": "27809|226957|359794|553143", + "upstreamId": "27809|226957|359794|553143", "text": "Abnormal pyramidal signs" }, { - "baseId": "27809|51184|205801|263335|359794|360846|361043|361060|361061|361062|361062|402131|539978|568036|801183|801191|801192", + "upstreamId": "27809|51184|205801|263335|359794|360846|361043|361060|361061|361062|361062|402131|539978|568036|801183|801191|801192", "text": "Dysarthria" }, { - "baseId": "27809|32660|32660|191616|205181|260246|265299|359794|360807|360821|360837|360838|360892|360956|361025|361025|361047|439927|513930|514049|514063|623675|624121|677222|677251|682759|972894", + "upstreamId": "27809|32660|32660|191616|205181|260246|265299|359794|360807|360821|360837|360838|360892|360956|361025|361025|361047|439927|513930|514049|514063|623675|624121|677222|677251|682759|972894", "text": "Muscle weakness" }, { - "baseId": "27810|27811|27812|27813|48740|139739|167463|167463|167464|221191|238787|238788|289810|481373|789114|790237|790238|790239|790240|790241|790242|790243|790244|961837|961838", + "upstreamId": "27810|27811|27812|27813|48740|139739|167463|167463|167464|221191|238787|238788|289810|481373|789114|790237|790238|790239|790240|790241|790242|790243|790244|961837|961838", "text": "Diarrhea 5, with tufting enteropathy, congenital" }, { - "baseId": "27814|27815|139739|167463|238782|238787|250741|250742|961261", + "upstreamId": "27814|27815|139739|167463|238782|238787|250741|250742|961261", "text": "Hereditary nonpolyposis colorectal cancer type 8" }, { - "baseId": "27816", + "upstreamId": "27816", "text": "Superoxide dismutase, elevated extracellular" }, { - "baseId": 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+ "upstreamId": "27817|27817|27817|27818|27818|27820|27820|27821|27821|27822|27822|27823|27824|27826|27830|27830|27831|27831|33493|33493|33494|33495|38851|38851|38851|45429|45429|45430|45430|48183|50209|50210|53809|53809|53813|138931|150487|150487|151825|152351|152351|152351|152367|152477|152477|152478|152541|152741|171052|171053|171053|172353|172492|172493|181604|181605|181606|181607|181608|181608|181609|181609|181610|181611|181613|181614|181616|181616|181617|181618|181619|181620|181621|181622|181622|181623|181623|181624|181624|181624|181625|181627|181628|194371|196493|196494|221085|225740|232173|232175|232175|232175|232176|232176|232181|232183|232187|238108|238109|238170|238171|238173|238174|238175|238176|238177|238178|238179|238180|238181|238181|238182|238183|238184|238185|238186|238187|238188|238189|238190|238191|238192|238193|238194|248478|249530|277358|278420|358698|358698|358699|358699|358700|358701|358701|358701|390718|390721|390733|390870|390876|390877|390878|390880|390882|390890|390891|390892|390893|390894|390895|390898|390899|390900|390901|390903|390904|390905|390906|390907|390907|390908|390909|390910|390911|390912|390913|390914|390914|390915|390916|390917|390918|390919|390919|390920|390921|390922|390923|390924|390925|390926|390926|390927|390928|390929|390930|390931|390932|390934|390935|390936|390939|390940|390942|404976|404979|404981|404981|420737|420743|420745|420746|420746|420748|420750|420754|420755|432026|432028|432034|432038|432042|432988|442662|442663|442664|442665|446920|446940|447286|447290|447293|447295|447296|447301|447305|447306|447371|447377|447379|447381|447383|447387|447390|447391|447397|447400|447409|447417|447440|447451|447452|447456|447457|447473|447483|447485|447487|447489|447490|447492|447493|447494|447501|447502|447504|447505|447508|447510|447512|447515|447517|447518|447529|447530|472265|472268|472271|472272|472273|472274|472276|472277|472278|472279|472280|472283|472284|472318|472323|472339|513743|514854|514882|515267|515268|515273|515281|515283|515285|515287|515290|515291|515294|515295|515298|515302|515307|515310|515313|515314|515316|515322|515324|515328|515333|515334|515353|515355|515356|515357|515359|515362|515363|515364|515366|515369|515371|515372|515373|515375|539201|556488|556492|556517|556519|556521|556690|556692|556694|556696|556698|556700|556743|556745|556747|556749|556871|557040|557042|557044|557046|557048|557050|557052|557054|557056|557058|558236|558240|558242|558244|558246|558248|558250|575654|627077|627078|627079|627080|627081|627082|627083|627084|627085|627086|627087|627088|627089|627090|627091|627092|627093|627094|627095|627096|627097|627098|627099|627100|627101|627102|627103|627104|627105|627106|627107|627108|627109|627110|627111|627112|627113|627114|627115|627116|627117|627118|627119|627120|650537|650539|650564|650566|650595|650596|650644|650646|650649|650650|657158|690417|690420|690421|731863|745840|745844|758851|761325|761328|761331|761333|806488|806490|806491|806492|806494|806495|806501|818863|818864|818865|818866|818867|818868|818869|818870|822993|822994|822995|822996|822997|822998|822999|823000|823001|823002|823003|823004|823005|823006|823007|823008|823009|823010|823011|850733|850735|850937|858441|921742|921743|921744|921745|921746|921747|921748|921749|921750|921751|921752|921753|921754|921755|921756|930156|930157|930158|930159|930160|930161|930162|930163|930164|930165|930166|930167|930168|940607|940608|940609|941573|941574|941575|941576|941577|941578|941579|941580|952140|952141|952142|952143|952144|952145|952146|959531|959532", "text": "Paragangliomas 4" }, { - "baseId": "27832", + "upstreamId": "27832", "text": "Coronary heart disease 6" }, { - "baseId": "27834|27835", + "upstreamId": "27834|27835", "text": "ADRENAL INSUFFICIENCY, NR5A1-RELATED" }, { - "baseId": "27835|260482|562691", + "upstreamId": "27835|260482|562691", "text": "46,XX sex reversal 4" }, { - "baseId": "27843|27844|27845|27846|27847", + "upstreamId": "27843|27844|27845|27846|27847", "text": "Premature ovarian failure 7" }, { - "baseId": "27849|481458|576086|789989|965357", + "upstreamId": "27849|481458|576086|789989|965357", "text": "Leukoencephalopathy with dystonia and motor neuropathy" }, { - "baseId": "27850|27851", + "upstreamId": "27850|27851", "text": "Skin/hair/eye pigmentation, variation in, 7" }, { - "baseId": "27852|181300|181301", + "upstreamId": "27852|181300|181301", "text": "Familial progressive hyperpigmentation with or without hypopigmentation" }, { - "baseId": "27853|27854|27855|27856|27857|27858|27859|27860|27861|27862|27863|27866|27867|38845|38846|48403|48404|100004|100005|190415|439068|451536|452328|452484|519025|519193|559399|561296|562611|562617|562619|590520|651042|827756|827757|918813|923105|943434|964117|974903|974904|974905|974906|974907|974908|974909|974910|974911|974912|974913|974914|974915|974916|974917|974918|974919|974920|974921|974922|974923|974924|974925|974926|974927|974928|976006", + "upstreamId": "27853|27854|27855|27856|27857|27858|27859|27860|27861|27862|27863|27866|27867|38845|38846|48403|48404|100004|100005|190415|439068|451536|452328|452484|519025|519193|559399|561296|562611|562617|562619|590520|651042|827756|827757|918813|923105|943434|964117|974903|974904|974905|974906|974907|974908|974909|974910|974911|974912|974913|974914|974915|974916|974917|974918|974919|974920|974921|974922|974923|974924|974925|974926|974927|974928|976006", "text": "Anophthalmia/microphthalmia-esophageal atresia syndrome" }, { - "baseId": "27864|27865", + "upstreamId": "27864|27865", "text": "Optic nerve hypoplasia and abnormalities of the central nervous system" }, { - "baseId": "27870|27871|27872|27873|27875|27876|27879|857684", + "upstreamId": "27870|27871|27872|27873|27875|27876|27879|857684", "text": "Elliptocytosis 3" }, { - "baseId": "27874|27876|27877|27878|27880|27881|27882|27890|187086|227359|511038|535255|535256|535257|535258|535259|535260|788957|799777|858569|970998", + "upstreamId": "27874|27876|27877|27878|27880|27881|27882|27890|187086|227359|511038|535255|535256|535257|535258|535259|535260|788957|799777|858569|970998", "text": "Spherocytosis type 2" }, { - "baseId": 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+ "upstreamId": 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"text": "Hereditary pyropoikilocytosis" }, { - "baseId": "27878", + "upstreamId": "27878", "text": "ANEMIA, PERINATAL HEMOLYTIC, FATAL OR NEAR-FATAL" }, { - "baseId": 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+ "upstreamId": 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"text": "Elliptocytosis 2" }, { - "baseId": "27885", + "upstreamId": "27885", "text": "Spherocytosis, type 3, autosomal recessive" }, { - "baseId": 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+ "upstreamId": 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"text": "Spherocytosis type 3" }, { - "baseId": "27895|623741", + "upstreamId": "27895|623741", "text": "Prenatal anemia" }, { - "baseId": "27900", + "upstreamId": "27900", "text": "Pyropoikilocytosis" }, { - "baseId": "27906|44156|142972|143003|143019|168759|168761|168762|168763|168764|168765|168768|168770|168771|168772|168776|168777|168779|168780|168784|168787|168788|168790|168792|168794|194022|202393|202433|202442|202454|370632|372248|421712|428923|428926|442553|459394|486750|563532|565554|612845|613759|614336|621028|625806|626184|653813|789348|790845|917796|919185|919186|919187|920262|946388|964310|964311|964312|964313|964314|964315|964316|970895|970896|975942|976518|983776", + "upstreamId": "27906|44156|142972|143003|143019|168759|168761|168762|168763|168764|168765|168768|168770|168771|168772|168776|168777|168779|168780|168784|168787|168788|168790|168792|168794|194022|202393|202433|202442|202454|370632|372248|421712|428923|428926|442553|459394|486750|563532|565554|612845|613759|614336|621028|625806|626184|653813|789348|790845|917796|919185|919186|919187|920262|946388|964310|964311|964312|964313|964314|964315|964316|970895|970896|975942|976518|983776", "text": "Early infantile epileptic encephalopathy 5" }, { - "baseId": 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+ "upstreamId": 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"text": "Gingival fibromatosis 1" }, { - "baseId": 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+ "upstreamId": "27908|27908|27909|27910|27910|27911|27911|27912|49111|49113|49125|49132|49134|49135|49142|49148|49153|49154|49162|49167|49169|49172|49176|49178|49186|49192|49196|49199|54510|54515|54517|54520|54524|54529|54541|54548|125843|142932|142939|173525|173668|173668|179037|179038|228963|228965|264097|265889|286235|286237|286238|286245|286265|286272|286277|286285|286289|286291|286291|286296|286297|286298|286986|286987|286991|286992|286993|286997|286998|286999|287014|287020|287031|287051|289312|289322|289323|289327|289329|289330|289331|289335|289354|289356|289673|289686|289687|289689|289700|289706|289730|289731|289732|289733|289735|392656|437668|442511|442519|451196|518215|518329|552535|583086|624847|818215|884865|884866|884867|884868|884869|884870|884871|884872|884873|884874|884875|884876|884877|884878|884879|884880|884881|884882|884883|884884|884885|884886|884887|884888|884889|884890|884891|884892|884893|884894|884895|884896|884897|884898|884899|884900|884901|884902|884903|884904|884905|884906|884907|884908|884909|884910|884911|884912|884913|884914|884915|884916|884917|884918|887363|921224|964201|975856|980315|980446|983791", "text": "Noonan syndrome 4" }, { - "baseId": "27909|27911|28363|28363|28363|28364|28364|28365|28365|28365|28365|28366|28366|28366|28367|28367|28368|28368|28369|28370|28370|28371|28372|28372|28372|28373|28373|28374|28379|28379|28380|28381|28382|28383|28384|28385|28388|28390|28941|28942|28996|29008|29020|38760|38760|38761|38762|38763|45369|45370|48246|48817|48955|48957|48957|48959|48959|48963|48965|48972|48973|48976|48978|48982|48983|48983|48986|48988|48989|48991|48992|48994|48995|48996|48997|48998|48998|49006|49010|49012|49019|49020|49022|49023|49024|49028|49028|49029|49029|49032|49032|49032|49036|49040|49055|49116|49142|49153|49156|53765|53766|53775|53966|53978|54515|70453|75093|138851|142546|142548|166118|174176|175395|175398|175540|179157|179456|181507|181513|224691|224692|225823|226150|230599|264459|264875|316040|316041|316046|316051|316057|316064|316065|323294|323298|323300|323304|323305|323306|323307|329404|329406|329458|329467|329470|329471|329472|329473|329475|329476|329477|329478|329485|329521|330584|330589|330590|330591|330595|330611|330625|330626|330628|330630|330634|354275|359646|359799|429364|481135|481136|481137|487580|494957|550169|552584|556612|569565|582588|624074|682796|682797|790236|792557|792700|798651|869289|869290|869291|869292|869293|869294|869295|869296|869297|869298|869299|869300|869301|869302|869303|869304|869305|869306|869307|869308|869309|869310|869311|869312|869313|869314|869315|869316|869317|970539|970540|975717|980344", + "upstreamId": "27909|27911|28363|28363|28363|28364|28364|28365|28365|28365|28365|28366|28366|28366|28367|28367|28368|28368|28369|28370|28370|28371|28372|28372|28372|28373|28373|28374|28379|28379|28380|28381|28382|28383|28384|28385|28388|28390|28941|28942|28996|29008|29020|38760|38760|38761|38762|38763|45369|45370|48246|48817|48955|48957|48957|48959|48959|48963|48965|48972|48973|48976|48978|48982|48983|48983|48986|48988|48989|48991|48992|48994|48995|48996|48997|48998|48998|49006|49010|49012|49019|49020|49022|49023|49024|49028|49028|49029|49029|49032|49032|49032|49036|49040|49055|49116|49142|49153|49156|53765|53766|53775|53966|53978|54515|70453|75093|138851|142546|142548|166118|174176|175395|175398|175540|179157|179456|181507|181513|224691|224692|225823|226150|230599|264459|264875|316040|316041|316046|316051|316057|316064|316065|323294|323298|323300|323304|323305|323306|323307|329404|329406|329458|329467|329470|329471|329472|329473|329475|329476|329477|329478|329485|329521|330584|330589|330590|330591|330595|330611|330625|330626|330628|330630|330634|354275|359646|359799|429364|481135|481136|481137|487580|494957|550169|552584|556612|569565|582588|624074|682796|682797|790236|792557|792700|798651|869289|869290|869291|869292|869293|869294|869295|869296|869297|869298|869299|869300|869301|869302|869303|869304|869305|869306|869307|869308|869309|869310|869311|869312|869313|869314|869315|869316|869317|970539|970540|975717|980344", "text": "Noonan syndrome 1" }, { - "baseId": "27911|48817|48818|48819|48955|49054|49134|49151|49154|49203|49288|53997|54540|70449|179102|359443|462420|533045|624073|624074", + "upstreamId": "27911|48817|48818|48819|48955|49054|49134|49151|49154|49203|49288|53997|54540|70449|179102|359443|462420|533045|624073|624074", "text": "Noonan syndrome and Noonan-related syndrome" }, { - "baseId": "27913", + "upstreamId": "27913", "text": "Somatostatin analog, resistance to" }, { - "baseId": 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+ "upstreamId": 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"text": "Seizures, benign familial infantile, 3" }, { - "baseId": 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"text": "Early infantile epileptic encephalopathy 11" }, { - "baseId": 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+ "upstreamId": 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"text": "Complex neurodevelopmental disorder" }, { - "baseId": 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+ "upstreamId": 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"text": "Generalized epilepsy with febrile seizures plus, type 2" }, { - "baseId": 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"text": "Severe myoclonic epilepsy in infancy" }, { - "baseId": "27921|99543|201449|206884|362597|486877|486898|621100|916835", + "upstreamId": "27921|99543|201449|206884|362597|486877|486898|621100|916835", "text": "Autosomal dominant epilepsy" }, { - "baseId": 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"text": "Familial hemiplegic migraine type 3" }, { - "baseId": "27935|27936", + "upstreamId": "27935|27936", "text": "Febrile seizures, familial, 3a" }, { - "baseId": "27936|31643|31644", + "upstreamId": "27936|31643|31644", "text": "carbamazepine response - Dosage" }, { - "baseId": "27936", + "upstreamId": "27936", "text": "phenytoin response - Dosage" }, { - "baseId": "27936", + "upstreamId": "27936", "text": "carbamazepine response - Efficacy" }, { - "baseId": "27936", + "upstreamId": "27936", "text": "antiepileptics response - Efficacy" }, { - "baseId": 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"text": "Dystonia 12" }, { - "baseId": "27948|27954|27954|45777|45777|45778|45778|45779|45780|45780|143209|166024|167771|167772|167773|170966|170967|170968|170969|170970|170971|170972|170973|170974|170975|170976|170977|170978|170979|170980|170981|170982|170983|170984|170985|170986|170987|170988|170991|170993|170994|170995|170997|170998|170999|171000|171001|208600|265739|333688|333691|333694|333698|333701|333703|333705|333706|333707|333709|333710|333720|333722|333725|343686|343688|343690|343692|343697|343699|343701|343703|343704|349037|349038|349040|349042|349044|349046|349048|349049|349922|349923|349925|349926|349928|349930|349931|349933|349934|349935|349938|353910|360446|376590|403265|413523|413523|430223|438113|469867|470945|486226|614461|614462|648160|677461|684829|689074|802025|802026|802027|802029|882099|882100|882101|882102|882103|882104|882105|882106|882107|882899|882900|882901|882902|882903|917793|969246", + "upstreamId": 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"27954|45777|45778|45780|166024|170985|213654|413523|424669|424670|614461|614462|677461|798753|964892", + "upstreamId": "27954|45777|45778|45780|166024|170985|213654|413523|424669|424670|614461|614462|677461|798753|964892", "text": "Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome" }, { - "baseId": 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"text": "Familial hemiplegic migraine type 2" }, { - "baseId": 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"text": "Familial hemiplegic migraine" }, { - "baseId": "27965", + "upstreamId": "27965", "text": "Migraine, familial basilar" }, { - "baseId": "27970|27971|236725|246984|297087|297089|297090|297091|297095|297100|297102|297103|297104|297110|297112|297116|299000|299015|299016|299019|299020|299021|299028|299029|299030|299039|299040|303238|303241|303247|303249|303255|303259|303260|303427|303429|303432|303435|303436|303438|427112|432294|779099|893979|893980|893981|893982|893983|893984|893985|893986|893987|893988|893989|893990|893991|893992|893993|893994|893995|893996|896079", + "upstreamId": "27970|27971|236725|246984|297087|297089|297090|297091|297095|297100|297102|297103|297104|297110|297112|297116|299000|299015|299016|299019|299020|299021|299028|299029|299030|299039|299040|303238|303241|303247|303249|303255|303259|303260|303427|303429|303432|303435|303436|303438|427112|432294|779099|893979|893980|893981|893982|893983|893984|893985|893986|893987|893988|893989|893990|893991|893992|893993|893994|893995|893996|896079", "text": "Nephrolithiasis/osteoporosis, hypophosphatemic, 1" }, { - "baseId": "27972|971577", + "upstreamId": "27972|971577", "text": "Fanconi renotubular syndrome 2" }, { - "baseId": "27973", + "upstreamId": "27973", "text": "Serotonin transporter activity, increased/decreased" }, { - "baseId": "27974|27976", + "upstreamId": "27974|27976", "text": "Obsessive-compulsive disorder, susceptibility to" }, { - "baseId": "27974|327923|327925|327926|327928|327929|327930|327937|327939|327940|327944|327950|327953|337750|337755|337756|337763|337764|337768|337771|337772|337774|337779|337783|337788|337789|337791|337792|337794|337797|343965|343973|343977|343982|343984|343985|343986|343987|343990|343996|343997|343999|344002|344003|344004|344005|345421|345427|345430|345434|345435|715351|727091|877117|877118|877119|877120|877121|877122|877123|877124|877125|877126|877127|877128|877129|877130|877131|877132|877133|877134|877135|877136|877137|877138|877139|877140|877141|877142|877143|877144|877145|877146|877147|877148|877149|877150|877151|877152|877153|877154|877155|877156|877157|877158|877159|877160|877161|877162|877163|877164|877165|877166|877167|877168|877169|877170|877172|877173|877174|877175|880493|880494", + "upstreamId": "27974|327923|327925|327926|327928|327929|327930|327937|327939|327940|327944|327950|327953|337750|337755|337756|337763|337764|337768|337771|337772|337774|337779|337783|337788|337789|337791|337792|337794|337797|343965|343973|343977|343982|343984|343985|343986|343987|343990|343996|343997|343999|344002|344003|344004|344005|345421|345427|345430|345434|345435|715351|727091|877117|877118|877119|877120|877121|877122|877123|877124|877125|877126|877127|877128|877129|877130|877131|877132|877133|877134|877135|877136|877137|877138|877139|877140|877141|877142|877143|877144|877145|877146|877147|877148|877149|877150|877151|877152|877153|877154|877155|877156|877157|877158|877159|877160|877161|877162|877163|877164|877165|877166|877167|877168|877169|877170|877172|877173|877174|877175|880493|880494", "text": "Behavior disorder" }, { - "baseId": "27978|27979|27980|27981|27982|27983|40573|48468|225853|237232|238970|287177|287197|287201|287203|287916|290475|290476|290498|290502|290504|290786|393235|451410|513525|581750|622872|630476|653853|798511|826972|885437|885438|885439|885440|885441|885442|885443|885444|885445|885446|885447|885448|887396|887397|887398|918780|918781", + "upstreamId": "27978|27979|27980|27981|27982|27983|40573|48468|225853|237232|238970|287177|287197|287201|287203|287916|290475|290476|290498|290502|290504|290786|393235|451410|513525|581750|622872|630476|653853|798511|826972|885437|885438|885439|885440|885441|885442|885443|885444|885445|885446|885447|885448|887396|887397|887398|918780|918781", "text": "Dopa-responsive dystonia due to sepiapterin reductase deficiency" }, { - "baseId": "27984", + "upstreamId": "27984", "text": "SECRETOR/NONSECRETOR POLYMORPHISM" }, { - "baseId": "27984|227407", + "upstreamId": "27984|227407", "text": "Vitamin b12 plasma level quantitative trait locus 1" }, { - "baseId": "27985", + "upstreamId": "27985", "text": "SECRETOR/NONSECRETOR POLYMORPHISM, JAPANESE TYPE" }, { - "baseId": "27987|27988|27989|34204|34205|34206|34207|34208|34209|97320|99994|99995|99997|167999|168000|168001|168002|168003|168004|168005|168007|168008|168009|168010|168011|168012|168013|168016|168017|168018|168019|168020|191372|191791|206824|214880|226883|237128|266987|274275|280753|280754|280755|280756|280766|280767|280770|280774|281235|281250|281260|281261|281262|281263|281269|282518|282519|282520|282533|282534|282538|282539|282790|282794|282805|282816|282820|282826|282827|282835|427840|442864|493551|536594|620004|746538|758927|789988|864541|864542|864543|864544|864545|864546|864547|864548|864549|864550|864551|864552|864553|864554|864555|864556|864557|864558|864559|864560|864561|864562|864563|864564|864565|865190|965356|970693", + "upstreamId": 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"27990|50332|50334|50335|108164|152802|177079|178038|178040|190978|191768|191769|285376|285381|285382|285383|285384|285386|285387|286007|286017|286022|288345|288347|288353|288768|288769|288770|288772|550168|626221|697415|708112|708113|719716|719718|719719|790212|799283|799284|825972|825976|884189|884190|884191|884192|884193|884194|884195|884196|884197|884198|884199|884200|887319|887320|977377", + "upstreamId": "27990|50332|50334|50335|108164|152802|177079|178038|178040|190978|191768|191769|285376|285381|285382|285383|285384|285386|285387|286007|286017|286022|288345|288347|288353|288768|288769|288770|288772|550168|626221|697415|708112|708113|719716|719718|719719|790212|799283|799284|825972|825976|884189|884190|884191|884192|884193|884194|884195|884196|884197|884198|884199|884200|887319|887320|977377", "text": "Oguchi's disease" }, { - "baseId": "27990|799284", + "upstreamId": "27990|799284", "text": "Retinitis pigmentosa 47" }, { - "baseId": "27990", + "upstreamId": "27990", "text": "SAG-Related Disorders" }, { - "baseId": "27991|27992|215583|215584|237265|335294|335299|335304|335311|345120|345127|345128|345146|345147|349888|349889|349890|349893|349894|349897|349898|349900|349901|350921|350923|470348|470350|470360|533553|573491|620656|620919|648633|716912|716913|728604|731338|742357|757465|821317|848306|848307|848308|886024|886025|886026|886027|886028|886029|886030|886031|886032|887455|938942|938943|951042", + "upstreamId": "27991|27992|215583|215584|237265|335294|335299|335304|335311|345120|345127|345128|345146|345147|349888|349889|349890|349893|349894|349897|349898|349900|349901|350921|350923|470348|470350|470360|533553|573491|620656|620919|648633|716912|716913|728604|731338|742357|757465|821317|848306|848307|848308|886024|886025|886026|886027|886028|886029|886030|886031|886032|887455|938942|938943|951042", "text": "Hypermethioninemia with s-adenosylhomocysteine hydrolase deficiency" }, { - "baseId": 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"text": "Catecholaminergic polymorphic ventricular tachycardia type 1" }, { - "baseId": 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"text": "Catecholaminergic polymorphic ventricular tachycardia" }, { - "baseId": 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+ "upstreamId": 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"text": "Arrhythmogenic right ventricular dysplasia, familial, 2" }, { - "baseId": 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+ "upstreamId": 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"text": "Malignant hyperthermia, susceptibility to, 1" }, { - "baseId": 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"text": "RYR1-Related Disorders" }, { - "baseId": "28003|28009|28010|28016|99151|99159|99173|99176|99182|99211|99212|136760|136777|136845|136922|136949|169560|169580|171238|196375|196500|198030|208594|227189|227190|249603|249620|249659|256909|256920|256925|256944|256948|256958|256987|257000|257032|257035|271556|278345|278362|278378|278397|278422|278461|279471|279503|279514|279524|279597|279598|279605|279676|279688|333301|333320|333371|333375|333410|333413|333414|333420|333435|333442|333452|333453|343386|343389|343390|343420|343425|343432|343435|343440|343453|343475|343476|343479|348713|348737|348738|348740|348758|348765|348777|349738|349753|349756|349757|349764|349779|353071|917293", + "upstreamId": "28003|28009|28010|28016|99151|99159|99173|99176|99182|99211|99212|136760|136777|136845|136922|136949|169560|169580|171238|196375|196500|198030|208594|227189|227190|249603|249620|249659|256909|256920|256925|256944|256948|256958|256987|257000|257032|257035|271556|278345|278362|278378|278397|278422|278461|279471|279503|279514|279524|279597|279598|279605|279676|279688|333301|333320|333371|333375|333410|333413|333414|333420|333435|333442|333452|333453|343386|343389|343390|343420|343425|343432|343435|343440|343453|343475|343476|343479|348713|348737|348738|348740|348758|348765|348777|349738|349753|349756|349757|349764|349779|353071|917293", "text": "Malignant hyperthermia susceptibility" }, { - "baseId": "28003|28004|28005|28006|28007|28008|28009|28010|28011|28012|28013|28014|28015|28017|28018|28021|28023|28032|76887|76888|136743|136775|136776|136793|136820|136822|136848|136850|136853|136911|136921|136927|136929|136930|136936|136940|136949|136953|136954|136985|275550|557106|623096|623101|623102|623103", + "upstreamId": "28003|28004|28005|28006|28007|28008|28009|28010|28011|28012|28013|28014|28015|28017|28018|28021|28023|28032|76887|76888|136743|136775|136776|136793|136820|136822|136848|136850|136853|136911|136921|136927|136929|136930|136936|136940|136949|136953|136954|136985|275550|557106|623096|623101|623102|623103", "text": "desflurane response - Toxicity/ADR" }, { - "baseId": "28003|28004|28005|28006|28007|28008|28009|28010|28011|28012|28013|28014|28015|28017|28018|28021|28023|28032|76887|76888|136743|136775|136776|136793|136820|136822|136848|136850|136853|136911|136921|136927|136929|136930|136936|136940|136949|136953|136954|136985|275550|557106|623096|623101|623102|623103", + "upstreamId": "28003|28004|28005|28006|28007|28008|28009|28010|28011|28012|28013|28014|28015|28017|28018|28021|28023|28032|76887|76888|136743|136775|136776|136793|136820|136822|136848|136850|136853|136911|136921|136927|136929|136930|136936|136940|136949|136953|136954|136985|275550|557106|623096|623101|623102|623103", "text": "enflurane response - Toxicity/ADR" }, { - "baseId": "28003|28004|28005|28006|28007|28008|28009|28010|28011|28012|28013|28014|28015|28017|28018|28021|28023|28032|76887|76888|136743|136775|136776|136793|136820|136822|136848|136850|136853|136911|136921|136927|136929|136930|136936|136940|136949|136953|136954|136985|275550|557106|623096|623101|623102|623103", + "upstreamId": "28003|28004|28005|28006|28007|28008|28009|28010|28011|28012|28013|28014|28015|28017|28018|28021|28023|28032|76887|76888|136743|136775|136776|136793|136820|136822|136848|136850|136853|136911|136921|136927|136929|136930|136936|136940|136949|136953|136954|136985|275550|557106|623096|623101|623102|623103", "text": "halothane response - Toxicity/ADR" }, { - "baseId": "28003|28004|28005|28006|28007|28008|28009|28010|28011|28012|28013|28014|28015|28017|28018|28021|28023|28032|76887|76888|136743|136775|136776|136793|136820|136822|136848|136850|136853|136911|136921|136927|136929|136930|136936|136940|136949|136953|136954|136985|275550|557106|623096|623101|623102|623103", + "upstreamId": "28003|28004|28005|28006|28007|28008|28009|28010|28011|28012|28013|28014|28015|28017|28018|28021|28023|28032|76887|76888|136743|136775|136776|136793|136820|136822|136848|136850|136853|136911|136921|136927|136929|136930|136936|136940|136949|136953|136954|136985|275550|557106|623096|623101|623102|623103", "text": "isoflurane response - Toxicity/ADR" }, { - "baseId": "28003|28004|28005|28006|28007|28008|28009|28010|28011|28012|28013|28014|28015|28017|28018|28021|28023|28032|76887|76888|136743|136775|136776|136793|136820|136822|136848|136850|136853|136911|136921|136927|136929|136930|136936|136940|136949|136953|136954|136985|275550|557106|623096|623101|623102|623103", + "upstreamId": "28003|28004|28005|28006|28007|28008|28009|28010|28011|28012|28013|28014|28015|28017|28018|28021|28023|28032|76887|76888|136743|136775|136776|136793|136820|136822|136848|136850|136853|136911|136921|136927|136929|136930|136936|136940|136949|136953|136954|136985|275550|557106|623096|623101|623102|623103", "text": "methoxyflurane response - Toxicity/ADR" }, { - "baseId": "28003|28004|28005|28006|28007|28008|28009|28010|28011|28012|28013|28014|28015|28017|28018|28021|28023|28032|76887|76888|136743|136775|136776|136793|136820|136822|136848|136850|136853|136911|136921|136927|136929|136930|136936|136940|136949|136953|136954|136985|275550|557106|623096|623101|623102|623103", + "upstreamId": "28003|28004|28005|28006|28007|28008|28009|28010|28011|28012|28013|28014|28015|28017|28018|28021|28023|28032|76887|76888|136743|136775|136776|136793|136820|136822|136848|136850|136853|136911|136921|136927|136929|136930|136936|136940|136949|136953|136954|136985|275550|557106|623096|623101|623102|623103", "text": "sevoflurane response - Toxicity/ADR" }, { - "baseId": "28003|28004|28005|28006|28007|28008|28009|28010|28011|28012|28013|28014|28015|28017|28018|28021|28023|28032|76887|76888|136743|136775|136776|136793|136820|136822|136848|136850|136853|136911|136921|136927|136929|136930|136936|136940|136949|136953|136954|136985|275550|557106|623096|623101|623102|623103", + "upstreamId": "28003|28004|28005|28006|28007|28008|28009|28010|28011|28012|28013|28014|28015|28017|28018|28021|28023|28032|76887|76888|136743|136775|136776|136793|136820|136822|136848|136850|136853|136911|136921|136927|136929|136930|136936|136940|136949|136953|136954|136985|275550|557106|623096|623101|623102|623103", "text": "succinylcholine response - Toxicity/ADR" }, { - "baseId": 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"text": "Central core myopathy" }, { - "baseId": 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"text": "Minicore myopathy with external ophthalmoplegia" }, { - "baseId": "28016", + "upstreamId": "28016", "text": "History of neonatal hypotonia" }, { - "baseId": "28016|48983|49142|360837|360838|361092|581713|623603|800785|801079", + "upstreamId": "28016|48983|49142|360837|360838|361092|581713|623603|800785|801079", "text": "Ptosis" }, { - "baseId": "28016", + "upstreamId": "28016", "text": "Sacral agenesis" }, { - "baseId": 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+ "upstreamId": 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"text": "Neuromuscular disease, congenital, with uniform type 1 fiber" }, { - "baseId": "28022|28023|136794|581590", + "upstreamId": "28022|28023|136794|581590", "text": "Central core disease, autosomal recessive" }, { - "baseId": "28023|136775|136776|136985", + "upstreamId": "28023|136775|136776|136985", "text": "volatile anesthetics response - Toxicity/ADR" }, { - "baseId": "28028|39430|99791|360798|360799|360810|360882|513914", + "upstreamId": "28028|39430|99791|360798|360799|360810|360882|513914", "text": "EMG abnormality" }, { - "baseId": "28036|28037|28204", + "upstreamId": "28036|28037|28204", "text": "Retinitis pigmentosa 7, digenic" }, { - "baseId": "28037|28201|28203|28211|28217|28218|28219|28220|104587|192225", + "upstreamId": "28037|28201|28203|28211|28217|28218|28219|28220|104587|192225", "text": "Retinitis pigmentosa 7" }, { - "baseId": "28038|28039|94532|106497", + "upstreamId": "28038|28039|94532|106497", "text": "Diamond-Blackfan anemia 4" }, { - "baseId": "28040|28041|28042|289809|290574|290575|293655|294198|294202|294207|294208|451802|519049|559413|559415|562637|651033|798527|819361|819362|851554|888590|888591|931873", + "upstreamId": "28040|28041|28042|289809|290574|290575|293655|294198|294202|294207|294208|451802|519049|559413|559415|562637|651033|798527|819361|819362|851554|888590|888591|931873", "text": "Diamond-Blackfan anemia 5" }, { - "baseId": 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"text": "Prostate cancer, hereditary, 1" }, { - "baseId": "28046|28047|287533|287536|287537|287539|288295|288302|288303|288313|288314|291093|291094|291261|291267|291268|291269|291271|622953|885651|885652|885653|885654|885655|885656|885657|885658|885659|885660|885661|885662|885663|885664|885665|885666|916884|917429|964654", + "upstreamId": "28046|28047|287533|287536|287537|287539|288295|288302|288303|288313|288314|291093|291094|291261|291267|291268|291269|291271|622953|885651|885652|885653|885654|885655|885656|885657|885658|885659|885660|885661|885662|885663|885664|885665|885666|916884|917429|964654", "text": "Deficiency of ribose-5-phosphate isomerase" }, { - "baseId": "28048|28049|28050|28051|50332|512938|623880|858596|858597|858598|858599|858600|858601|858602|858603|858604|858605|858606|858607|858608|858609|858610|858611|972477", + "upstreamId": "28048|28049|28050|28051|50332|512938|623880|858596|858597|858598|858599|858600|858601|858602|858603|858604|858605|858606|858607|858608|858609|858610|858611|972477", "text": "Oguchi disease 2" }, { - "baseId": "28052|28052|28053|28054|28055|28056|28057|28058|28059|28060|28061|28062|28063|28064|28065|28066|28067|28068|28069|28070|28071|28072|28073|28074|28076|28077|28078|28079|28081|28082|28085|28086|28087|28088|28089|28090|28091|28092|28094|28095|152797|193443|404762|431666|486336|585498|613629|613630|613631|613632|613633|613634|613635|613636|613637|613638|622873|623273|623832|790329|790330|790331|790332|790333|799312|799313|800488|815978|827534|827535|851025|856279|856280|856283|856284|856288|856289|856293|943326|970753|970754|972851|972852|972853|972854|972855|972856|972857|972859|972860|972861|972862|972863|972864|972865|972866|972867|972868|972870|972871|972872|972873|972874", + "upstreamId": "28052|28052|28053|28054|28055|28056|28057|28058|28059|28060|28061|28062|28063|28064|28065|28066|28067|28068|28069|28070|28071|28072|28073|28074|28076|28077|28078|28079|28081|28082|28085|28086|28087|28088|28089|28090|28091|28092|28094|28095|152797|193443|404762|431666|486336|585498|613629|613630|613631|613632|613633|613634|613635|613636|613637|613638|622873|623273|623832|790329|790330|790331|790332|790333|799312|799313|800488|815978|827534|827535|851025|856279|856280|856283|856284|856288|856289|856293|943326|970753|970754|972851|972852|972853|972854|972855|972856|972857|972859|972860|972861|972862|972863|972864|972865|972866|972867|972868|972870|972871|972872|972873|972874", "text": "Retinitis pigmentosa 4" }, { - "baseId": 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- "baseId": "28067|28136|28138|28139|28140|189092|623000|800526|800579", + "upstreamId": "28067|28136|28138|28139|28140|189092|623000|800526|800579", "text": "Retinitis punctata albescens" }, { - "baseId": "28075|28085|38830", + "upstreamId": "28075|28085|38830", "text": "Retinitis pigmentosa 4, autosomal recessive" }, { - "baseId": "28096|28097|28099|28100|28101|28103|28104|28105", + "upstreamId": "28096|28097|28099|28100|28101|28103|28104|28105", "text": "Rh-null, regulator type" }, { - "baseId": "28098|28102", + "upstreamId": "28098|28102", "text": "Rh mod blood group phenotype" }, { - "baseId": "28106|28107|49861|919305|920289|964845", + "upstreamId": "28106|28107|49861|919305|920289|964845", "text": "Retinal dystrophy, iris coloboma, and comedogenic acne syndrome" }, { - "baseId": 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"text": "Retinoblastoma" }, { - "baseId": "28126|185345", + "upstreamId": "28126|185345", "text": "Vulvar adenocarcinoma of mammary gland type" }, { - "baseId": "28129", + "upstreamId": "28129", "text": "Retinoblastoma, trilateral" }, { - "baseId": "28137|28138|98754|194294|265976|268054|323448|323451|323456|323458|323459|323460|323461|323472|323473|333147|333149|333151|333153|333160|333162|333163|339985|339987|339991|339993|339996|339999|341371|341373|341378|341381|341382|341384|341387|726328|874211|874212|874213|874214|874215|874216|874217|874218|874219|874220|874221|874222|874223|874224|876583|876584|876585", + "upstreamId": "28137|28138|98754|194294|265976|268054|323448|323451|323456|323458|323459|323460|323461|323472|323473|333147|333149|333151|333153|333160|333162|333163|339985|339987|339991|339993|339996|339999|341371|341373|341378|341381|341382|341384|341387|726328|874211|874212|874213|874214|874215|874216|874217|874218|874219|874220|874221|874222|874223|874224|876583|876584|876585", "text": "Newfoundland rod-cone dystrophy" }, { - "baseId": "28139|189092", + "upstreamId": "28139|189092", "text": "Bothnia retinal dystrophy" }, { - "baseId": "28139|28140|495363", + "upstreamId": "28139|28140|495363", "text": "RLBP1-Related Disorders" }, { - "baseId": "28141", + "upstreamId": "28141", "text": "Retinitis pigmentosa 57" }, { - "baseId": "28142|28143|28144|28145|28147|28148|177924|214454|226524|226525|227273|293979|367986|431675|513054|513951|551536|551537|551538|551539|551540|551541|623839|672057|918902|918903|920204|974513|974514", + "upstreamId": "28142|28143|28144|28145|28147|28148|177924|214454|226524|226525|227273|293979|367986|431675|513054|513951|551536|551537|551538|551539|551540|551541|623839|672057|918902|918903|920204|974513|974514", "text": "Retinitis pigmentosa 40" }, { - "baseId": "28146|98674|98675|98676|106440|142341|142342|142343|142347|177922|190238|190239|192618|194288|194815|260350|266047|266049|271310|272984|293969|293970|293971|293978|293979|293980|293981|293985|293986|295264|295265|295273|295274|295279|295342|295348|295374|295375|295378|295379|295380|295386|295392|295395|295399|295400|295401|295404|295406|295407|295408|295416|299055|299091|299092|299102|299103|299104|299112|299115|299117|299125|299139|299140|299141|299144|299145|299151|299152|299153|299156|299164|299172|299173|299186|299187|299192|299193|299198|299199|299202|299205|299208|299210|299231|299233|367986|734694|764606|829437|829458|829459|851826|891998|891999|892000|892001|892002|892003|892004|892005|892051|892052|892053|892054|892055|892056|892057|892058|892059|892060|892061|892062|892063|892064|892065|892066|892067|892068|895986|895987|895988|895989|895990", + "upstreamId": "28146|98674|98675|98676|106440|142341|142342|142343|142347|177922|190238|190239|192618|194288|194815|260350|266047|266049|271310|272984|293969|293970|293971|293978|293979|293980|293981|293985|293986|295264|295265|295273|295274|295279|295342|295348|295374|295375|295378|295379|295380|295386|295392|295395|295399|295400|295401|295404|295406|295407|295408|295416|299055|299091|299092|299102|299103|299104|299112|299115|299117|299125|299139|299140|299141|299144|299145|299151|299152|299153|299156|299164|299172|299173|299186|299187|299192|299193|299198|299199|299202|299205|299208|299210|299231|299233|367986|734694|764606|829437|829458|829459|851826|891998|891999|892000|892001|892002|892003|892004|892005|892051|892052|892053|892054|892055|892056|892057|892058|892059|892060|892061|892062|892063|892064|892065|892066|892067|892068|895986|895987|895988|895989|895990", "text": "Congenital stationary night blindness, autosomal dominant 2" }, { - "baseId": "28149|28150|28151|38829|98917|106433|142336|227005|269281|296300|302411|433782|799401|799402|799403|920207", + "upstreamId": "28149|28150|28151|38829|98917|106433|142336|227005|269281|296300|302411|433782|799401|799402|799403|920207", "text": "Retinitis pigmentosa 43" }, { - "baseId": "28153|28153|28154|28154|28156|28156|28157|28157|28158|28158|28159|28159|38825|38825|38827|38828|38828|98766|98766|98767|98767|104710|104711|104715|104715|104718|104718|104720|104720|104724|104724|104726|104726|104727|104727|104730|104730|104731|104733|104735|104736|104736|104738|104739|104747|104748|104750|104750|104753|104756|104756|104757|104757|104759|104759|104760|104761|104761|104763|104763|104764|104770|104775|104776|104778|104778|104779|104779|104782|104783|104789|104789|104790|104792|104793|104793|104794|104794|193415|195577|281145|281146|281151|281153|281156|281764|281767|281769|282957|282958|282960|282960|282963|282966|283247|283248|283248|359276|360814|361383|418817|431611|448228|448228|448230|448370|513509|541288|541292|550246|550249|550249|551518|558585|587734|587734|612345|628252|628253|628253|628254|696860|696860|696861|696862|696863|696864|696864|707502|707503|707504|707504|719065|719065|719066|719066|719067|732571|732572|732573|746631|746632|746632|758920|758920|759059|759059|761008|762067|762071|762071|777151|777160|780761|780762|780763|789992|789993|789994|789995|789995|799224|818174|818992|824390|824391|824392|824393|824394|824394|824395|824396|824397|824398|824398|824399|824400|824401|824402|824403|856026|858499|858499|858500|858500|858501|858502|858502|858503|864771|864772|864773|864774|864775|864776|864777|864778|864779|864780|864781|864782|864783|864784|864785|864785|864786|864787|864788|864789|864790|864791|864792|864793|864794|865205|865206|865207|922156|930654|930655|930656|930657|939825|939826|939827|940648|940648|942093|942094|942095|942096|942097|942097|952510|952511|952512|952513|952514|952515|952516|952517|952518|952519|952520|952521|959569|962249|962250|962251|962252|962253|962254|962255|962256|962257|962258|962259|962260|962261|962262|962263|962264|962265|962266", + "upstreamId": "28153|28153|28154|28154|28156|28156|28157|28157|28158|28158|28159|28159|38825|38825|38827|38828|38828|98766|98766|98767|98767|104710|104711|104715|104715|104718|104718|104720|104720|104724|104724|104726|104726|104727|104727|104730|104730|104731|104733|104735|104736|104736|104738|104739|104747|104748|104750|104750|104753|104756|104756|104757|104757|104759|104759|104760|104761|104761|104763|104763|104764|104770|104775|104776|104778|104778|104779|104779|104782|104783|104789|104789|104790|104792|104793|104793|104794|104794|193415|195577|281145|281146|281151|281153|281156|281764|281767|281769|282957|282958|282960|282960|282963|282966|283247|283248|283248|359276|360814|361383|418817|431611|448228|448228|448230|448370|513509|541288|541292|550246|550249|550249|551518|558585|587734|587734|612345|628252|628253|628253|628254|696860|696860|696861|696862|696863|696864|696864|707502|707503|707504|707504|719065|719065|719066|719066|719067|732571|732572|732573|746631|746632|746632|758920|758920|759059|759059|761008|762067|762071|762071|777151|777160|780761|780762|780763|789992|789993|789994|789995|789995|799224|818174|818992|824390|824391|824392|824393|824394|824394|824395|824396|824397|824398|824398|824399|824400|824401|824402|824403|856026|858499|858499|858500|858500|858501|858502|858502|858503|864771|864772|864773|864774|864775|864776|864777|864778|864779|864780|864781|864782|864783|864784|864785|864785|864786|864787|864788|864789|864790|864791|864792|864793|864794|865205|865206|865207|922156|930654|930655|930656|930657|939825|939826|939827|940648|940648|942093|942094|942095|942096|942097|942097|952510|952511|952512|952513|952514|952515|952516|952517|952518|952519|952520|952521|959569|962249|962250|962251|962252|962253|962254|962255|962256|962257|962258|962259|962260|962261|962262|962263|962264|962265|962266", "text": "Leber congenital amaurosis 2" }, { - "baseId": "28153|28154|28154|28154|28155|28156|28156|28157|28157|28158|28158|28159|28159|38825|38825|38828|98766|98767|104715|104715|104718|104720|104724|104726|104727|104730|104731|104736|104739|104747|104750|104753|104756|104757|104759|104761|104763|104763|104775|104776|104778|104779|104789|104792|104793|104794|193415|195577|281153|281153|282960|283248|359276|360814|360814|361383|418817|448228|448230|448370|541288|541292|550246|550249|558585|587734|628252|628253|628254|696860|696861|696862|696863|696864|707502|707503|707504|719065|719066|719067|732571|732572|732573|746631|746632|758920|759059|761008|762067|762071|777151|777160|780761|780762|780763|789995|818174|818174|818992|824390|824391|824392|824393|824394|824395|824396|824397|824398|824399|824400|824401|824402|824403|858499|858500|858502|864785|922156|930654|930655|930656|930657|939825|939826|939827|940648|942093|942094|942095|942096|942097|952510|952511|952512|952513|952514|952515|952516|952517|952518|952519|952520|952521|959569", + "upstreamId": "28153|28154|28154|28154|28155|28156|28156|28157|28157|28158|28158|28159|28159|38825|38825|38828|98766|98767|104715|104715|104718|104720|104724|104726|104727|104730|104731|104736|104739|104747|104750|104753|104756|104757|104759|104761|104763|104763|104775|104776|104778|104779|104789|104792|104793|104794|193415|195577|281153|281153|282960|283248|359276|360814|360814|361383|418817|448228|448230|448370|541288|541292|550246|550249|558585|587734|628252|628253|628254|696860|696861|696862|696863|696864|707502|707503|707504|719065|719066|719067|732571|732572|732573|746631|746632|758920|759059|761008|762067|762071|777151|777160|780761|780762|780763|789995|818174|818174|818992|824390|824391|824392|824393|824394|824395|824396|824397|824398|824399|824400|824401|824402|824403|858499|858500|858502|864785|922156|930654|930655|930656|930657|939825|939826|939827|940648|942093|942094|942095|942096|942097|952510|952511|952512|952513|952514|952515|952516|952517|952518|952519|952520|952521|959569", "text": "Retinitis pigmentosa 20" }, { - "baseId": "28154|38825|104753|104763|361383|761008", + "upstreamId": "28154|38825|104753|104763|361383|761008", "text": "RPE65-Related Disorders" }, { - "baseId": "28160|177189|187661|187662|187663|187664|268145|278727|278730|278738|278740|278744|278746|278750|278759|278761|278766|278771|278774|278775|278776|278784|278792|278794|278922|278923|278930|278933|278936|278937|278943|278945|278960|278961|278962|278964|280091|280094|280097|280099|280102|280108|280109|280128|280129|280130|280131|280135|280145|280146|280147|280176|280178|280181|280182|280187|280194|280199|280200|280215|280216|280217|280220|280221|280222|280226|280229|280249|280250|280261|280269|280271|280272|280273|438752|447772|690482|690483|690484|690485|690486|690487|696441|696442|732081|799153|823311|823312|823313|823314|823315|863443|863444|863445|863446|863447|863448|863449|863450|863451|863452|863453|863454|863455|863456|863457|863458|863459|863460|863461|863462|863463|863464|863465|863466|863467|863468|863469|863470|863471|863472|930268|930269|941689", + "upstreamId": "28160|177189|187661|187662|187663|187664|268145|278727|278730|278738|278740|278744|278746|278750|278759|278761|278766|278771|278774|278775|278776|278784|278792|278794|278922|278923|278930|278933|278936|278937|278943|278945|278960|278961|278962|278964|280091|280094|280097|280099|280102|280108|280109|280128|280129|280130|280131|280135|280145|280146|280147|280176|280178|280181|280182|280187|280194|280199|280200|280215|280216|280217|280220|280221|280222|280226|280229|280249|280250|280261|280269|280271|280272|280273|438752|447772|690482|690483|690484|690485|690486|690487|696441|696442|732081|799153|823311|823312|823313|823314|823315|863443|863444|863445|863446|863447|863448|863449|863450|863451|863452|863453|863454|863455|863456|863457|863458|863459|863460|863461|863462|863463|863464|863465|863466|863467|863468|863469|863470|863471|863472|930268|930269|941689", "text": "Leber congenital amaurosis 12" }, { - "baseId": "28161", + "upstreamId": "28161", "text": "Hyperproreninemia, familial" }, { - "baseId": 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+ "upstreamId": "28162|28163|33102|33103|33104|33105|33106|33107|33109|33110|33111|59366|59367|59368|59369|59370|59371|205185|237023|249673|249765|250978|250979|256303|256304|256305|256306|256308|256309|256310|256311|256312|256313|256314|278513|278514|278515|278516|278526|278527|278638|278639|278640|279426|279427|279430|279431|279435|279437|279438|279439|279450|279720|279727|279728|279730|279780|279784|279795|279944|279945|279946|279952|280966|280968|280970|280971|280974|280975|280980|280981|280982|280986|280989|280990|280999|281110|281112|281115|281116|281117|281119|281126|281128|281150|281157|281158|281159|281160|289068|289071|289072|289073|289075|289798|289807|289814|289833|289837|292880|292889|292891|292892|292893|292896|292898|292901|293137|293152|293156|293158|293167|293168|293169|329278|329282|329283|329284|329291|329294|329295|329304|329306|329311|329312|329313|329318|329319|329322|329323|329325|329326|329330|329331|339518|339519|339523|339525|339532|339535|339536|339540|339542|339546|339547|339548|339554|339555|339556|339557|339568|339570|339574|339581|339588|339596|345299|345300|345304|345306|345308|345311|345314|345315|345320|345321|345322|345323|345327|345334|345337|345338|345343|345344|345345|346688|346691|346692|346694|346696|346697|346700|346702|346705|346706|346707|346710|346714|346715|346718|346720|346722|346725|346726|346729|346730|346736|353097|353635|362071|362152|376493|550631|620598|620599|697877|704275|704276|704278|704279|707192|715613|715614|718781|720245|727337|727338|732254|732255|733866|733867|740930|746264|774432|778382|778409|785682|863331|863332|863333|863334|863335|863336|863337|863338|863339|863340|863836|863837|863838|863839|863840|863841|863842|863843|863844|863845|863846|863847|863848|863849|863850|863851|863852|863853|863854|863855|863856|863857|863858|863859|878041|878042|878043|878044|878045|878046|878047|878048|878049|878050|878051|878052|878053|878054|878055|878056|878057|878058|878059|878060|878061|878062|878063|878064|878065|878066|878067|878068|878069|878070|878071|878072|878073|878074|878075|878076|878077|878078|878079|878080|878081|878082|878083|878084|878085|878086|878087|878088|878089|878090|878091|878092|878093|878094|878095|878096|878097|878098|878099|878100|878101|878102|878103|878104|880561|880562|880563|880564|888142|888143|888144|888145|888146|888147|888148|888149|888150|888151|888152|888153|888154|888155|888156|888157|888158|888159|888160|891587|891588|906230|906270|918592|962795|962796|962797|962798", "text": "Renal dysplasia" }, { - "baseId": "28162|28164|28165|249673|278513|278514|278515|278516|278526|278527|278638|278639|278640|279780|279784|279795|279944|279945|279946|279952|432278|774432|863331|863332|863333|863334|863335|863336|863337|863338|863339|863340|962666", + "upstreamId": "28162|28164|28165|249673|278513|278514|278515|278516|278526|278527|278638|278639|278640|279780|279784|279795|279944|279945|279946|279952|432278|774432|863331|863332|863333|863334|863335|863336|863337|863338|863339|863340|962666", "text": "Hyperuricemic nephropathy, familial juvenile, 2" }, { - "baseId": "28166|38823|38824|185687|185688|472236|791447", + "upstreamId": "28166|38823|38824|185687|185688|472236|791447", "text": "Mirror movements 2" }, { - "baseId": "28167", + "upstreamId": "28167", "text": "Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers" }, { - "baseId": "28168|28169|28173|28174|28175|28178|28179|28180|28187|28192|28200", + "upstreamId": "28168|28169|28173|28174|28175|28178|28179|28180|28187|28192|28200", "text": "Severe combined immunodeficiency, B cell-negative" }, { - "baseId": "28168|28169|28170|28171|28174|28175|28176|28177|45377|45378|45379|45381|142590|408345|408346|415267|433888|481991|488103|488104|488105|488106|488107|488108|488109|488110|488111|488112|488113|488114|488115|488116|488117|488118|488119", + "upstreamId": "28168|28169|28170|28171|28174|28175|28176|28177|45377|45378|45379|45381|142590|408345|408346|415267|433888|481991|488103|488104|488105|488106|488107|488108|488109|488110|488111|488112|488113|488114|488115|488116|488117|488118|488119", "text": "Recombinase activating gene 2 deficiency" }, { - "baseId": "28168|28169|28170|28171|28174|28175|28176|28177|45377|45378|45379|45381|142590|408345|408346|415267|433888|481991|488103|488104|488105|488106|488107|488108|488109|488110|488111|488112|488113|488114|488115|488116|488117|488118|488119|589847|589848|589849|589850|589851", + "upstreamId": "28168|28169|28170|28171|28174|28175|28176|28177|45377|45378|45379|45381|142590|408345|408346|415267|433888|481991|488103|488104|488105|488106|488107|488108|488109|488110|488111|488112|488113|488114|488115|488116|488117|488118|488119|589847|589848|589849|589850|589851", "text": "Primary immunodeficiency" }, { - "baseId": "28169|28172|28172|28174|28176|28176|28177|28177|28177|28185|28193|28195|28197|28198|28198|28199|28200|38822|45371|45371|45372|45373|45374|45375|45376|45377|45380|45381|79572|79572|79574|79575|79576|79581|79582|142585|142586|142587|142588|142589|142590|142590|254148|254151|269282|313990|313992|320387|320393|320401|326382|326384|326430|326434|326435|326435|327380|327381|327462|327462|327474|327480|359878|359938|359941|371408|408342|415266|425922|433888|433888|444800|461092|461100|461295|461298|461300|461304|461574|461576|461890|461904|461907|481990|488104|488105|488113|488118|488119|491899|526182|526185|526190|526194|526666|526667|526671|526676|526679|526682|564612|564613|567235|567235|567239|567241|567241|567244|567245|567249|570614|570620|570629|612909|614356|614356|614357|624428|640003|640004|640005|640006|640007|640008|640009|640010|640011|640012|640013|640014|640015|640016|640017|640018|640019|640020|640021|640022|640023|640024|640025|640026|640027|640028|687777|687778|693020|693021|701752|712815|737962|768438|768440|768442|783988|783989|783990|791133|791134|820362|838357|838358|838359|838360|838361|838362|838363|838364|838365|838366|838367|838368|838369|838370|838371|838372|838373|838374|838375|838376|838377|838378|838379|838380|838381|838382|838383|838384|838385|838386|838387|838388|838389|838390|838391|838392|838393|838394|838395|838396|838397|838398|838399|838400|838401|838402|926215|926216|926217|926218|926219|926220|926221|926222|926223|926224|926225|935514|935515|935516|935517|935518|935519|935520|935521|947432|947433|947434|947435|947436|947437|947438|947439|947440|947441|947442|947443|947444|947445|956477|956478|956479|956480|956481|956482|956483|956484|956485|956486|956487|956488|956489|956490|956491|956492|956493|964363", + "upstreamId": "28169|28172|28172|28174|28176|28176|28177|28177|28177|28185|28193|28195|28197|28198|28198|28199|28200|38822|45371|45371|45372|45373|45374|45375|45376|45377|45380|45381|79572|79572|79574|79575|79576|79581|79582|142585|142586|142587|142588|142589|142590|142590|254148|254151|269282|313990|313992|320387|320393|320401|326382|326384|326430|326434|326435|326435|327380|327381|327462|327462|327474|327480|359878|359938|359941|371408|408342|415266|425922|433888|433888|444800|461092|461100|461295|461298|461300|461304|461574|461576|461890|461904|461907|481990|488104|488105|488113|488118|488119|491899|526182|526185|526190|526194|526666|526667|526671|526676|526679|526682|564612|564613|567235|567235|567239|567241|567241|567244|567245|567249|570614|570620|570629|612909|614356|614356|614357|624428|640003|640004|640005|640006|640007|640008|640009|640010|640011|640012|640013|640014|640015|640016|640017|640018|640019|640020|640021|640022|640023|640024|640025|640026|640027|640028|687777|687778|693020|693021|701752|712815|737962|768438|768440|768442|783988|783989|783990|791133|791134|820362|838357|838358|838359|838360|838361|838362|838363|838364|838365|838366|838367|838368|838369|838370|838371|838372|838373|838374|838375|838376|838377|838378|838379|838380|838381|838382|838383|838384|838385|838386|838387|838388|838389|838390|838391|838392|838393|838394|838395|838396|838397|838398|838399|838400|838401|838402|926215|926216|926217|926218|926219|926220|926221|926222|926223|926224|926225|935514|935515|935516|935517|935518|935519|935520|935521|947432|947433|947434|947435|947436|947437|947438|947439|947440|947441|947442|947443|947444|947445|956477|956478|956479|956480|956481|956482|956483|956484|956485|956486|956487|956488|956489|956490|956491|956492|956493|964363", "text": "Combined cellular and humoral immune defects with granulomas" }, { - "baseId": "28177|76319|467467|467469|467471|468332|531769|531844|531851|531892|569725|569734|571589|624272|646691|646692|646693|646694|646695|715703|727425|760655|815896|815899|815900|815902|815903|815905|815925|815943|815946|816028|816029|846193|846194|846195|846196|846197|846198|852907", + "upstreamId": "28177|76319|467467|467469|467471|468332|531769|531844|531851|531892|569725|569734|571589|624272|646691|646692|646693|646694|646695|715703|727425|760655|815896|815899|815900|815902|815903|815905|815925|815943|815946|816028|816029|846193|846194|846195|846196|846197|846198|852907", "text": "Common variable immunodeficiency" }, { - "baseId": "28181", + "upstreamId": "28181", "text": "RECOMBINATION ACTIVATING GENE 1 POLYMORPHISM" }, { - "baseId": "28190|28192|28193|28194|79572|567235|567241|614356|614357|964364", + "upstreamId": "28190|28192|28193|28194|79572|567235|567241|614356|614357|964364", "text": "Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity" }, { - "baseId": "28203|28206|28209|28212|28218|28222|104543|104548|104554|104556|104570|104582|104585|104588|104601|104603|104611|152788|190248|270098|431694|456531|612147|623972|672067|691988|691989|699595|710519|735665|790628|800516|801389|819689|831954|831955|831956|831957|831958|831959|831960|831961|831962|831963|831964|831965|831966|831967|856459|856464|856466|933329|933330|933331|933332|933333|933334|933335|933336|933337|933338|933339|940037|940038|945031|945032|945033|945034|945035|945036|945037|954454|954455|954456|954457|954458|954459|954460|959805|959806|960584", + "upstreamId": "28203|28206|28209|28212|28218|28222|104543|104548|104554|104556|104570|104582|104585|104588|104601|104603|104611|152788|190248|270098|431694|456531|612147|623972|672067|691988|691989|699595|710519|735665|790628|800516|801389|819689|831954|831955|831956|831957|831958|831959|831960|831961|831962|831963|831964|831965|831966|831967|856459|856464|856466|933329|933330|933331|933332|933333|933334|933335|933336|933337|933338|933339|940037|940038|945031|945032|945033|945034|945035|945036|945037|954454|954455|954456|954457|954458|954459|954460|959805|959806|960584", "text": "PRPH2-Related Disorders" }, { - "baseId": "28203|28204|28206|28209|28212|28218|28222|104556|104588|104593|104603|104611|190248|307578|612147|801389|831959|831960|856446|856454|856461|856464|933335|945036|962012|962018|962019|962021", + "upstreamId": "28203|28204|28206|28209|28212|28218|28222|104556|104588|104593|104603|104611|190248|307578|612147|801389|831959|831960|856446|856454|856461|856464|933335|945036|962012|962018|962019|962021", "text": "Patterned dystrophy of the retinal pigment epithelium" }, { - "baseId": "28204|104581", + "upstreamId": "28204|104581", "text": "Leber congenital amaurosis 18" }, { - "baseId": "28204|28208|28210|28213|28217|28218|98753|104543|104548|104554|104556|104580|104581|104592|104611|142607|142608|142609|142611|177987|252356|270098|300152|300154|300156|300157|300161|300164|300166|300167|300169|300173|302873|302878|302879|302880|302885|302916|302918|302926|302934|302935|302948|302949|302951|302953|302954|302960|302962|302963|307343|307353|307354|307355|307361|307363|307369|307552|307564|307565|307570|307575|307578|307579|307586|431694|489877|612147|614544|699595|790628|790629|790630|800517|831963|896283|896284|896285|896286|896287|896288|896289|896290|896291|896292|896293|896294|896295|896296|896297|896298|896299|896300|896301|896302|896303|896304", + "upstreamId": "28204|28208|28210|28213|28217|28218|98753|104543|104548|104554|104556|104580|104581|104592|104611|142607|142608|142609|142611|177987|252356|270098|300152|300154|300156|300157|300161|300164|300166|300167|300169|300173|302873|302878|302879|302880|302885|302916|302918|302926|302934|302935|302948|302949|302951|302953|302954|302960|302962|302963|307343|307353|307354|307355|307361|307363|307369|307552|307564|307565|307570|307575|307578|307579|307586|431694|489877|612147|614544|699595|790628|790629|790630|800517|831963|896283|896284|896285|896286|896287|896288|896289|896290|896291|896292|896293|896294|896295|896296|896297|896298|896299|896300|896301|896302|896303|896304", "text": "Macular dystrophy, patterned, 1" }, { - "baseId": "28205", + "upstreamId": "28205", "text": "Retinitis punctata albescens, autosomal dominant" }, { - "baseId": "28206|28209|28221|28222|98753|104543|104548|104554|104592|104611|142607|142608|142609|142611|177987|252356|270098|300152|300154|300156|300157|300161|300164|300166|300167|300169|302873|302878|302879|302880|302885|302916|302918|302926|302934|302935|302948|302949|302951|302953|302954|302960|302962|302963|307343|307353|307354|307355|307552|307564|307565|307570|307575|307579|307586|489877|699595|831963|896283|896284|896285|896286|896287|896288|896289|896290|896291|896292|896293|896294|896295|896296|896297|896298|896299|896300|896301|896302|896303|896304", + "upstreamId": "28206|28209|28221|28222|98753|104543|104548|104554|104592|104611|142607|142608|142609|142611|177987|252356|270098|300152|300154|300156|300157|300161|300164|300166|300167|300169|302873|302878|302879|302880|302885|302916|302918|302926|302934|302935|302948|302949|302951|302953|302954|302960|302962|302963|307343|307353|307354|307355|307552|307564|307565|307570|307575|307579|307586|489877|699595|831963|896283|896284|896285|896286|896287|896288|896289|896290|896291|896292|896293|896294|896295|896296|896297|896298|896299|896300|896301|896302|896303|896304", "text": "Choroidal dystrophy, central areolar 2" }, { - "baseId": "28207|28212|28214|28215|28216|98753|104543|104548|104554|104556|104592|104607|104611|142607|142608|142609|142611|177987|252356|270098|300152|300154|300156|300157|300161|300164|300166|300167|300169|302873|302878|302879|302880|302885|302916|302918|302926|302934|302935|302948|302949|302951|302953|302954|302960|302962|302963|307343|307353|307354|307355|307552|307564|307565|307570|307575|307579|307586|432296|489877|590281|699595|818247|831963|896283|896284|896285|896286|896287|896288|896289|896290|896291|896292|896293|896294|896295|896296|896297|896298|896299|896300|896301|896302|896303|896304|964279|980328", + "upstreamId": "28207|28212|28214|28215|28216|98753|104543|104548|104554|104556|104592|104607|104611|142607|142608|142609|142611|177987|252356|270098|300152|300154|300156|300157|300161|300164|300166|300167|300169|302873|302878|302879|302880|302885|302916|302918|302926|302934|302935|302948|302949|302951|302953|302954|302960|302962|302963|307343|307353|307354|307355|307552|307564|307565|307570|307575|307579|307586|432296|489877|590281|699595|818247|831963|896283|896284|896285|896286|896287|896288|896289|896290|896291|896292|896293|896294|896295|896296|896297|896298|896299|896300|896301|896302|896303|896304|964279|980328", "text": "Macular dystrophy, vitelliform, adult-onset" }, { - "baseId": "28209|28222|104558|105193|105240|105308|105488|611528|800451|800470|800478|800532|800557|800568|800616", + "upstreamId": "28209|28222|104558|105193|105240|105308|105488|611528|800451|800470|800478|800532|800557|800568|800616", "text": "maculopathy" }, { - "baseId": "28223|28224|28225|28226|53803|53805|175340|312276|312277|312305|312306|312308|312310|318114|318136|318145|318147|318155|318159|318170|318171|318178|318181|318182|318183|318185|318186|318187|324141|324144|324148|324173|324185|324197|324198|324200|324213|324218|324223|324241|324254|324256|324263|324980|324986|324990|324994|324998|493016|620383|620384|625873|866987|866988|866989|866990|866991|866992|866993|866994|866995|866996|866997|866998|866999|867000|867001|867002|867003|867004|867005|867006|867007|867008|867009|867010|867011|867012|867013|867014|867015|867016|867017|867018|868602|868603|970560", + "upstreamId": "28223|28224|28225|28226|53803|53805|175340|312276|312277|312305|312306|312308|312310|318114|318136|318145|318147|318155|318159|318170|318171|318178|318181|318182|318183|318185|318186|318187|324141|324144|324148|324173|324185|324197|324198|324200|324213|324218|324223|324241|324254|324256|324263|324980|324986|324990|324994|324998|493016|620383|620384|625873|866987|866988|866989|866990|866991|866992|866993|866994|866995|866996|866997|866998|866999|867000|867001|867002|867003|867004|867005|867006|867007|867008|867009|867010|867011|867012|867013|867014|867015|867016|867017|867018|868602|868603|970560", "text": "Deafness, autosomal recessive 24" }, { - "baseId": "28227|28228|135326|142351|142352|142353|142355|142356|211018|211020|291384|292522|292523|292524|292526|292528|292540|292541|295904|295906|295916|295924|295925|295935|295938|367370|500371|626138|651138|660046|709006|734258|734259|743962|781793|828531|889544|889545|889546|889547|889548|889549|889550|889551|889552|889553|891701|923335|932075|953582|966668|966669|966670|966671|966672|966673|966675|966676", + "upstreamId": "28227|28228|135326|142351|142352|142353|142355|142356|211018|211020|291384|292522|292523|292524|292526|292528|292540|292541|295904|295906|295916|295924|295925|295935|295938|367370|500371|626138|651138|660046|709006|734258|734259|743962|781793|828531|889544|889545|889546|889547|889548|889549|889550|889551|889552|889553|891701|923335|932075|953582|966668|966669|966670|966671|966672|966673|966675|966676", "text": "Pyruvate dehydrogenase E1-beta deficiency" }, { - "baseId": "28229|28230|28231|28233|28234|28235|28236|266502|445922|481324|481325|682831|682832|682842|788918|816005|961629|963177|964882|983768|983769", + "upstreamId": "28229|28230|28231|28233|28234|28235|28236|266502|445922|481324|481325|682831|682832|682842|788918|816005|961629|963177|964882|983768|983769", "text": "Autosomal recessive cutis laxa type 2B" }, { - "baseId": "28236|28237|38818|38819|38820|266502|961629", + "upstreamId": "28236|28237|38818|38819|38820|266502|961629", "text": "Autosomal recessive cutis laxa type 3B" }, { - "baseId": "28240|28241|28242|28243|28244|173534|173535|173536|173537|173673|173674|173675|196087|228968|228969|287417|287421|287423|287424|287426|287427|287428|287429|288203|288208|288217|288218|288219|290870|290871|290873|290875|290882|290885|290890|291121|291122|291126|291127|291138|291145|291148|291149|291150|291152|291153|578406|578527|584248|588015|610681|620097|708393|719985|719986|774794|885569|885570|885571|885572|885573|885574|885575|885576|885577|885578|885579|885580|885581|885582|885583|885584|885585|885586|887407|887408|961003|965621|966788", + "upstreamId": "28240|28241|28242|28243|28244|173534|173535|173536|173537|173673|173674|173675|196087|228968|228969|287417|287421|287423|287424|287426|287427|287428|287429|288203|288208|288217|288218|288219|290870|290871|290873|290875|290882|290885|290890|291121|291122|291126|291127|291138|291145|291148|291149|291150|291152|291153|578406|578527|584248|588015|610681|620097|708393|719985|719986|774794|885569|885570|885571|885572|885573|885574|885575|885576|885577|885578|885579|885580|885581|885582|885583|885584|885585|885586|887407|887408|961003|965621|966788", "text": "Surfactant metabolism dysfunction, pulmonary, 1" }, { - "baseId": "28245|39082", + "upstreamId": "28245|39082", "text": "Pulmonary fibrosis, idiopathic, susceptibility to" }, { - "baseId": "28246|28247|28248|28249|28250|28251|28252|28253|174394|174395|174533|174534|227321|304867|304873|304874|304876|304877|304883|304888|304889|308589|308599|308600|313748|313749|313769|313772|313774|313788|313801|313802|313803|313804|313805|313806|313861|313864|313868|313869|681808|899330|899331|899332|899333|899334|899335|899336|966598", + "upstreamId": "28246|28247|28248|28249|28250|28251|28252|28253|174394|174395|174533|174534|227321|304867|304873|304874|304876|304877|304883|304888|304889|308589|308599|308600|313748|313749|313769|313772|313774|313788|313801|313802|313803|313804|313805|313806|313861|313864|313868|313869|681808|899330|899331|899332|899333|899334|899335|899336|966598", "text": "Surfactant metabolism dysfunction, pulmonary, 2" }, { - "baseId": "28254|28268|28269", + "upstreamId": "28254|28268|28269", "text": "Postanesthetic apnea" }, { - "baseId": "28254|28255|28257|28258|28259|28264|28265|28266|28267|209042|227254|227255|251000|289421|289427|289428|289430|289431|290196|290199|290202|290204|290205|290206|290219|293286|293294|293295|293302|293720|293723|293724|293725|293729|293732|293733|357302|357303|357304|357305|357306|357307|357308|357309|357310|357311|357312|357313|357314|357315|357316|357317|357318|357319|357320|357321|357322|357323|542900|542901|542903|542910|542913|542916|542918|543063|543066|543067|543072|543078|543084|543088|543089|543134|543149|543151|543153|543155|543159|543163|543166|543171|543172|543183|543189|543191|620118|620119|620120|888340|888341|888342|888343|888344|888345|888346|888347|888348|888349|888350|888351|888352|888353|888354|888355|888356|888357|891615", + "upstreamId": "28254|28255|28257|28258|28259|28264|28265|28266|28267|209042|227254|227255|251000|289421|289427|289428|289430|289431|290196|290199|290202|290204|290205|290206|290219|293286|293294|293295|293302|293720|293723|293724|293725|293729|293732|293733|357302|357303|357304|357305|357306|357307|357308|357309|357310|357311|357312|357313|357314|357315|357316|357317|357318|357319|357320|357321|357322|357323|542900|542901|542903|542910|542913|542916|542918|543063|543066|543067|543072|543078|543084|543088|543089|543134|543149|543151|543153|543155|543159|543163|543166|543171|543172|543183|543189|543191|620118|620119|620120|888340|888341|888342|888343|888344|888345|888346|888347|888348|888349|888350|888351|888352|888353|888354|888355|888356|888357|891615", "text": "Deficiency of butyrylcholine esterase" }, { - "baseId": "28256", + "upstreamId": "28256", "text": "Bche, h variant" }, { - "baseId": "28257", + "upstreamId": "28257", "text": "BCHE, flouride 1" }, { - "baseId": "28258", + "upstreamId": "28258", "text": "BCHE, fluoride 2" }, { - "baseId": "28259", + "upstreamId": "28259", "text": "Butyrylcholinesterase activity" }, { - "baseId": "28260", + "upstreamId": "28260", "text": "Bche, j variant" }, { - "baseId": "28261", + "upstreamId": "28261", "text": "BCHE Newfoundland" }, { - "baseId": "28262", + "upstreamId": "28262", "text": "BCHE Cynthiana" }, { - "baseId": "28263", + "upstreamId": "28263", "text": "BCHE Johannesburg" }, { - "baseId": "28265", + "upstreamId": "28265", "text": "Butyrylcholinesterase deficiency, fluoride-resistant, japanese type" }, { - "baseId": "28270|28271|188064|188065|255889|466018|466721|466723|467002|467005|530361|530563|530778|570496|645006|652665|693934|791647|820885|844360|919679|927962|949589|949590", + "upstreamId": "28270|28271|188064|188065|255889|466018|466721|466723|467002|467005|530361|530563|530778|570496|645006|652665|693934|791647|820885|844360|919679|927962|949589|949590", "text": "Cataract 21, multiple types" }, { - "baseId": "28272|28273|28274|28275|28276|136382|136383|136384|136385|136386|136387|255217|255218|255219|255220|255221|255222|255223|255224|255226|255227|322539|322543|322545|331908|331923|331931|331941|331943|331947|331952|338926|338928|338936|338942|338943|340540|340541|340543|340547|340548|340550|340555|620513|797135|799797|799798|799799|799800|873526|873527|873528|873529|873530|873531|873532|873533|876509|876510|876511", + "upstreamId": "28272|28273|28274|28275|28276|136382|136383|136384|136385|136386|136387|255217|255218|255219|255220|255221|255222|255223|255224|255226|255227|322539|322543|322545|331908|331923|331931|331941|331943|331947|331952|338926|338928|338936|338942|338943|340540|340541|340543|340547|340548|340550|340555|620513|797135|799797|799798|799799|799800|873526|873527|873528|873529|873530|873531|873532|873533|876509|876510|876511", "text": "Spherocytosis type 5" }, { - "baseId": "28277|28278|28279|28280|28281|28282|99979|99980|99981|99983|172094|172095|172096|178062|181391|194447|226998|227011|256760|256762|256763|256764|256765|267798|298565|298577|298596|298597|298614|298615|298622|298628|298633|298636|298637|300894|300937|300956|300960|300967|300990|300997|301001|301005|301009|301016|301025|301027|301033|301036|301038|305288|305322|305349|305358|305398|305401|305404|305437|305479|305500|305509|305549|305550|305584|332518|332520|332524|332526|332527|332534|332541|342734|342735|342737|342738|342739|342741|342746|342750|342752|342754|342757|342759|342762|342764|344622|344626|344630|348088|348092|348094|348099|348100|348101|348104|348105|348109|348110|348113|349359|349360|349363|349364|350622|350625|353740|360973|427500|485920|512818|513954|514058|620904|756701|879886|879887|879888|879889|879890|879891|879892|879893|879894|879895|879896|879897|879898|879899|879900|879901|879902|879903|879904|879905|879906|880691|880692|971112|980385|980386", + "upstreamId": "28277|28278|28279|28280|28281|28282|99979|99980|99981|99983|172094|172095|172096|178062|181391|194447|226998|227011|256760|256762|256763|256764|256765|267798|298565|298577|298596|298597|298614|298615|298622|298628|298633|298636|298637|300894|300937|300956|300960|300967|300990|300997|301001|301005|301009|301016|301025|301027|301033|301036|301038|305288|305322|305349|305358|305398|305401|305404|305437|305479|305500|305509|305549|305550|305584|332518|332520|332524|332526|332527|332534|332541|342734|342735|342737|342738|342739|342741|342746|342750|342752|342754|342757|342759|342762|342764|344622|344626|344630|348088|348092|348094|348099|348100|348101|348104|348105|348109|348110|348113|349359|349360|349363|349364|350622|350625|353740|360973|427500|485920|512818|513954|514058|620904|756701|879886|879887|879888|879889|879890|879891|879892|879893|879894|879895|879896|879897|879898|879899|879900|879901|879902|879903|879904|879905|879906|880691|880692|971112|980385|980386", "text": "Polycystic liver disease 1" }, { - "baseId": "28283|28284|28285|28286|28287|28288|28289|28290|28291|38812|38813|51295|51298|51306|51311|51314|51323|51327|51329|51330|51331|51332|51333|51335|51336|51337|51340|135482|135483|191541|208622|334232|334239|334241|344149|344151|344157|344158|344161|344162|344164|344168|344169|344176|344177|344179|344183|344185|349341|349346|349348|350342|350343|350346|350347|350350|350351|350355|350358|430264|442255|508930|508931|608915|791950|791951|791952|860608|882447|882448|882449|882450|882451|882452|882453|882454|882455|882456|882457|882458|882924|882925|882926|882927|882928|915095|915096|915097|915098|920545|966400", + "upstreamId": "28283|28284|28285|28286|28287|28288|28289|28290|28291|38812|38813|51295|51298|51306|51311|51314|51323|51327|51329|51330|51331|51332|51333|51335|51336|51337|51340|135482|135483|191541|208622|334232|334239|334241|344149|344151|344157|344158|344161|344162|344164|344168|344169|344176|344177|344179|344183|344185|349341|349346|349348|350342|350343|350346|350347|350350|350351|350355|350358|430264|442255|508930|508931|608915|791950|791951|791952|860608|882447|882448|882449|882450|882451|882452|882453|882454|882455|882456|882457|882458|882924|882925|882926|882927|882928|915095|915096|915097|915098|920545|966400", "text": "Spinocerebellar ataxia type 14" }, { - "baseId": "28292|28294|28295|28296|47515|49461|141642|141643|141644|287750|287756|287757|287763|287765|287773|287775|287779|288441|288443|288444|288445|291317|291327|291332|291333|291334|291336|291473|291479|291480|291481|291483|367104|451516|451793|451991|451991|559213|624252|630656|630661|691240|691241|720016|850925|885745|885746|885747|885748|885749|885750|885751|885752|885753|885754|885755|887417|887418|887419|887420", + "upstreamId": "28292|28294|28295|28296|47515|49461|141642|141643|141644|287750|287756|287757|287763|287765|287773|287775|287779|288441|288443|288444|288445|291317|291327|291332|291333|291334|291336|291473|291479|291480|291481|291483|367104|451516|451793|451991|451991|559213|624252|630656|630661|691240|691241|720016|850925|885745|885746|885747|885748|885749|885750|885751|885752|885753|885754|885755|887417|887418|887419|887420", "text": "Combined immunodeficiency due to ZAP70 deficiency" }, { - "baseId": "28297|28298|28299|28300|28301|249476|249477|249478|249479|249481|249482|249483|249484|249485|249486|249487|249488|263955|276914|276927|276930|276931|276947|276959|276960|276963|276964|276966|276968|276974|276979|276980|277020|277027|277032|277196|277202|277204|277205|277208|277209|277210|277223|277226|277228|277229|277287|277289|277290|277298|277300|277900|277903|277905|277915|277927|277945|277946|278002|278003|278004|278005|278009|278011|278012|278019|278031|278032|278033|278035|278037|278052|278055|278102|278104|278110|278111|278114|447339|447343|447375|515257|515278|515288|515344|556733|619959|622306|626100|627020|627039|627055|650555|650685|685583|718330|729934|822930|822963|862589|862590|862591|862592|862593|862594|862605|862606|862607|862608|862609|862610|862611|862612|862613|862614|862615|862631|862632|862633|862634|862635|862636|862637|862638|862639|865020|921727|941553", + "upstreamId": "28297|28298|28299|28300|28301|249476|249477|249478|249479|249481|249482|249483|249484|249485|249486|249487|249488|263955|276914|276927|276930|276931|276947|276959|276960|276963|276964|276966|276968|276974|276979|276980|277020|277027|277032|277196|277202|277204|277205|277208|277209|277210|277223|277226|277228|277229|277287|277289|277290|277298|277300|277900|277903|277905|277915|277927|277945|277946|278002|278003|278004|278005|278009|278011|278012|278019|278031|278032|278033|278035|278037|278052|278055|278102|278104|278110|278111|278114|447339|447343|447375|515257|515278|515288|515344|556733|619959|622306|626100|627020|627039|627055|650555|650685|685583|718330|729934|822930|822963|862589|862590|862591|862592|862593|862594|862605|862606|862607|862608|862609|862610|862611|862612|862613|862614|862615|862631|862632|862633|862634|862635|862636|862637|862638|862639|865020|921727|941553", "text": "Cataract 6, multiple types" }, { - "baseId": "28301", + "upstreamId": "28301", "text": "Cataract 6, age-related cortical" }, { - "baseId": "28301", + "upstreamId": "28301", "text": "Cortical senile cataract" }, { - "baseId": "28302|28303|28304|28305|28306|28307|28308|28309|28310|28314|28315|28321|28322|28323|28328|28329|28334|28338|28338|38808|138125|138127|138129|138131|139286|193378|193379|253699|253700|253704|253706|259933|268579|268591|309577|309579|309582|309583|309584|309585|309587|309588|309600|309606|309607|309608|314366|314367|314377|314378|314379|314389|314395|314396|314414|314416|314418|314419|314420|314421|314431|320436|320439|320440|320447|320448|320459|320461|320462|320467|320469|320470|320865|320874|320875|320877|320883|320884|320908|320909|320916|320920|320934|320936|320937|320942|320947|361709|361711|361713|361714|361715|361717|361718|361719|361721|406667|503156|539974|563601|569547|701223|737381|865489|865490|865491|865492|865493|865494|865495|865496|865497|865498|865499|865500|865501|865502|865503|865504|865505|865506|865507|865508|865509|865510|865511|865512|865513|865514|868451|868452|868453|969285", + "upstreamId": "28302|28303|28304|28305|28306|28307|28308|28309|28310|28314|28315|28321|28322|28323|28328|28329|28334|28338|28338|38808|138125|138127|138129|138131|139286|193378|193379|253699|253700|253704|253706|259933|268579|268591|309577|309579|309582|309583|309584|309585|309587|309588|309600|309606|309607|309608|314366|314367|314377|314378|314379|314389|314395|314396|314414|314416|314418|314419|314420|314421|314431|320436|320439|320440|320447|320448|320459|320461|320462|320467|320469|320470|320865|320874|320875|320877|320883|320884|320908|320909|320916|320920|320934|320936|320937|320942|320947|361709|361711|361713|361714|361715|361717|361718|361719|361721|406667|503156|539974|563601|569547|701223|737381|865489|865490|865491|865492|865493|865494|865495|865496|865497|865498|865499|865500|865501|865502|865503|865504|865505|865506|865507|865508|865509|865510|865511|865512|865513|865514|868451|868452|868453|969285", "text": "Crouzon syndrome" }, { - "baseId": "28302|28305|28306|28313|28315|28320|28325|28327|28329|28330|28331|28332|28333|28338|28338|28339|31318|31318|191949|192053|193672|193673|193674|248739|259933|305216|308951|308989|308993|308994|309577|314200|314213|314217|314378|314379|320877|320916|320937|361706|361707|361712|361716|361720|371850|425793|458465|458466|458898|458901|493549|513216|523562|523565|523567|524155|562414|562416|637202|651969|684009|687290|689920|819961|834738|834739|851694|925198|925199|925200|934303|934304|946062|946063", + "upstreamId": "28302|28305|28306|28313|28315|28320|28325|28327|28329|28330|28331|28332|28333|28338|28338|28339|31318|31318|191949|192053|193672|193673|193674|248739|259933|305216|308951|308989|308993|308994|309577|314200|314213|314217|314378|314379|320877|320916|320937|361706|361707|361712|361716|361720|371850|425793|458465|458466|458898|458901|493549|513216|523562|523565|523567|524155|562414|562416|637202|651969|684009|687290|689920|819961|834738|834739|851694|925198|925199|925200|934303|934304|946062|946063", "text": "Pfeiffer syndrome" }, { - "baseId": "28302|28303|28304|28305|28306|28307|28309|28310|28311|28312|28313|28314|28315|28316|28322|28325|28329|28330|28332|138125|138127|138129|138131|193378|193379|253700|253706|259933|265819|268579|268591|314395|314396|320884|361710|361711|361716|361721|444565|444566|459906|459911|459913|460155|460158|460619|491711|503164|524995|525006|525008|525009|525525|563599|563601|566187|566190|566194|569547|638760|638761|652256|692793|759899|818138|836683|836684|836685|836686|925760|959929", + "upstreamId": "28302|28303|28304|28305|28306|28307|28309|28310|28311|28312|28313|28314|28315|28316|28322|28325|28329|28330|28332|138125|138127|138129|138131|193378|193379|253700|253706|259933|265819|268579|268591|314395|314396|320884|361710|361711|361716|361721|444565|444566|459906|459911|459913|460155|460158|460619|491711|503164|524995|525006|525008|525009|525525|563599|563601|566187|566190|566194|569547|638760|638761|652256|692793|759899|818138|836683|836684|836685|836686|925760|959929", "text": "FGFR2 related craniosynostosis" }, { - "baseId": "28302|28305|28306|28312|28325|919259|919260", + "upstreamId": "28302|28305|28306|28312|28325|919259|919260", "text": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis" }, { - "baseId": "28305|28306|28308|28315|31318|309577|314378|314379|320877|320916|320937|361710|361711", + "upstreamId": "28305|28306|28308|28315|31318|309577|314378|314379|320877|320916|320937|361710|361711", "text": "Jackson-Weiss syndrome" }, { - "baseId": "28307", + "upstreamId": "28307", "text": "Craniosynostosis, nonclassifiable autosomal dominant" }, { - "baseId": "28307", + "upstreamId": "28307", "text": "Scaphocephaly and axenfeld-rieger anomaly" }, { - "baseId": "28307|28333|31366|31367|31368|31371|31376|31377|31378|31379|31381|31386|31387|31394|76470|76763|138125|138127|138129|138131|138137|138138|138143|138147|138148|138149|139286|191137|191949|192053|193378|193379|193380|193381|193672|193674|194790|194791|195205|207114|209687|224372|251372|251373|251380|251381|251385|251388|251392|251393|251394|251397|253699|253700|253704|253706|268579|268591|271219|271513|272118|296994|298886|305196|305197|305206|305210|305211|305213|305216|305217|305227|305229|308949|308950|308951|308954|308955|308965|308966|308967|308968|308969|308987|308988|308989|308990|308991|308992|308993|308994|308995|309017|309019|309020|309577|309579|309582|309583|309584|309585|309587|309588|309600|309606|309607|309608|314169|314172|314173|314175|314176|314177|314180|314181|314182|314183|314185|314186|314189|314193|314194|314195|314196|314199|314200|314201|314204|314205|314206|314207|314209|314210|314212|314213|314217|314219|314220|314222|314223|314228|314231|314237|314238|314366|314367|314377|314378|314379|314389|314395|314396|314414|314416|314418|314419|314420|314421|314431|320436|320439|320440|320447|320448|320459|320461|320462|320467|320469|320470|320865|320874|320875|320877|320883|320884|320908|320909|320916|320920|320934|320936|320937|320942|320947|359618|360913|360914|363628|363629|369068|370233|371850|389089|389090|389091|428292|453055|453061|453062|453066|453069|453353|453434|453444|453446|453448|453833|453835|453843|488869|501129|503156|513216|519821|519822|519828|519844|519848|520148|523886|559637|559792|559794|559796|563605|569547|577061|632094|632095|632096|679248|679250|679251|679252|679253|679658|679659|679660|679661|679663|679664|679665|679666|679667|679668|679671|687284|687287|689918|691532|691533|695221|695222|695223|698441|701223|709242|709244|720842|720846|737381|748819|748823|764389|764391|787369|828965|828966|828967|828968|828969|865489|865490|865491|865492|865493|865494|865495|865496|865497|865498|865499|865500|865501|865502|865503|865504|865505|865506|865507|865508|865509|865510|865511|865512|865513|865514|868451|868452|868453|899458|899459|899460|899461|899462|899463|899464|899465|899466|899467|899468|899469|899470|899471|899472|899473|899474|899475|899476|899477|899478|899479|899480|899481|899482|899483|899484|899485|899486|899487|899488|899489|899490|899491|899492|899493|899494|899495|899496|899497|899498|899499|899500|899501|899502|899503|899504|899505|899506|899507|899508|899509|899510|899511|899512|900485|900486|900487|923468|923469|943907", + "upstreamId": "28307|28333|31366|31367|31368|31371|31376|31377|31378|31379|31381|31386|31387|31394|76470|76763|138125|138127|138129|138131|138137|138138|138143|138147|138148|138149|139286|191137|191949|192053|193378|193379|193380|193381|193672|193674|194790|194791|195205|207114|209687|224372|251372|251373|251380|251381|251385|251388|251392|251393|251394|251397|253699|253700|253704|253706|268579|268591|271219|271513|272118|296994|298886|305196|305197|305206|305210|305211|305213|305216|305217|305227|305229|308949|308950|308951|308954|308955|308965|308966|308967|308968|308969|308987|308988|308989|308990|308991|308992|308993|308994|308995|309017|309019|309020|309577|309579|309582|309583|309584|309585|309587|309588|309600|309606|309607|309608|314169|314172|314173|314175|314176|314177|314180|314181|314182|314183|314185|314186|314189|314193|314194|314195|314196|314199|314200|314201|314204|314205|314206|314207|314209|314210|314212|314213|314217|314219|314220|314222|314223|314228|314231|314237|314238|314366|314367|314377|314378|314379|314389|314395|314396|314414|314416|314418|314419|314420|314421|314431|320436|320439|320440|320447|320448|320459|320461|320462|320467|320469|320470|320865|320874|320875|320877|320883|320884|320908|320909|320916|320920|320934|320936|320937|320942|320947|359618|360913|360914|363628|363629|369068|370233|371850|389089|389090|389091|428292|453055|453061|453062|453066|453069|453353|453434|453444|453446|453448|453833|453835|453843|488869|501129|503156|513216|519821|519822|519828|519844|519848|520148|523886|559637|559792|559794|559796|563605|569547|577061|632094|632095|632096|679248|679250|679251|679252|679253|679658|679659|679660|679661|679663|679664|679665|679666|679667|679668|679671|687284|687287|689918|691532|691533|695221|695222|695223|698441|701223|709242|709244|720842|720846|737381|748819|748823|764389|764391|787369|828965|828966|828967|828968|828969|865489|865490|865491|865492|865493|865494|865495|865496|865497|865498|865499|865500|865501|865502|865503|865504|865505|865506|865507|865508|865509|865510|865511|865512|865513|865514|868451|868452|868453|899458|899459|899460|899461|899462|899463|899464|899465|899466|899467|899468|899469|899470|899471|899472|899473|899474|899475|899476|899477|899478|899479|899480|899481|899482|899483|899484|899485|899486|899487|899488|899489|899490|899491|899492|899493|899494|899495|899496|899497|899498|899499|899500|899501|899502|899503|899504|899505|899506|899507|899508|899509|899510|899511|899512|900485|900486|900487|923468|923469|943907", "text": "Craniosynostosis syndrome" }, { - "baseId": "28311|28312|28318|28326|28338|70518|309577|314378|314379|320877|320916|320937|818138", + "upstreamId": "28311|28312|28318|28326|28338|70518|309577|314378|314379|320877|320916|320937|818138", "text": "Acrocephalosyndactyly type I" }, { - "baseId": "28311|29022|361707|361709|363031|363032|363033|363034|363035|363036|363037|363038|363039|363040|363041|363042|363043|363044", + "upstreamId": "28311|29022|361707|361709|363031|363032|363033|363034|363035|363036|363037|363038|363039|363040|363041|363042|363043|363044", "text": "Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation" }, { - "baseId": "28311", + "upstreamId": "28311", "text": "Acrocephalosyndactyly" }, { - "baseId": "28311|28316|28317|32616|363107|363109|363194|363195|363196|363235|363312|363604|363605|363606", + "upstreamId": "28311|28316|28317|32616|363107|363109|363194|363195|363196|363235|363312|363604|363605|363606", "text": "Endometrial neoplasm" }, { - "baseId": "28312|151858|362775|362960|363090|363091", + "upstreamId": "28312|151858|362775|362960|363090|363091", "text": "Head and Neck Neoplasms" }, { - "baseId": "28316|28317|38807|138125|138127|138129|138131|139286|193378|193379|253699|253700|253704|253706|268579|268591|309577|309579|309582|309583|309584|309585|309587|309588|309600|309606|309607|309608|314366|314367|314377|314378|314379|314389|314395|314396|314414|314416|314418|314419|314420|314421|314431|320436|320439|320440|320447|320448|320459|320461|320462|320467|320469|320470|320865|320874|320875|320877|320883|320884|320908|320909|320916|320920|320934|320936|320937|320942|320947|503156|569547|701223|737381|865489|865490|865491|865492|865493|865494|865495|865496|865497|865498|865499|865500|865501|865502|865503|865504|865505|865506|865507|865508|865509|865510|865511|865512|865513|865514|868451|868452|868453", + "upstreamId": "28316|28317|38807|138125|138127|138129|138131|139286|193378|193379|253699|253700|253704|253706|268579|268591|309577|309579|309582|309583|309584|309585|309587|309588|309600|309606|309607|309608|314366|314367|314377|314378|314379|314389|314395|314396|314414|314416|314418|314419|314420|314421|314431|320436|320439|320440|320447|320448|320459|320461|320462|320467|320469|320470|320865|320874|320875|320877|320883|320884|320908|320909|320916|320920|320934|320936|320937|320942|320947|503156|569547|701223|737381|865489|865490|865491|865492|865493|865494|865495|865496|865497|865498|865499|865500|865501|865502|865503|865504|865505|865506|865507|865508|865509|865510|865511|865512|865513|865514|868451|868452|868453", "text": "Beare-Stevenson cutis gyrata syndrome" }, { - "baseId": "28319", + "upstreamId": "28319", "text": "Pfeiffer syndrome variant" }, { - "baseId": "28325", + "upstreamId": "28325", "text": "Pfeiffer syndrome, type III" }, { - "baseId": "28328", + "upstreamId": "28328", "text": "Craniosynostosis, nonsyndromic unicoronal" }, { - "baseId": "28332", + "upstreamId": "28332", "text": "Craniofacial-skeletal-dermatologic dysplasia" }, { - "baseId": "28334", + "upstreamId": "28334", "text": "Scaphocephaly, maxillary retrusion, and mental retardation" }, { - "baseId": "28341", + "upstreamId": "28341", "text": "PROTHROMBIN TYPE 3" }, { - "baseId": "28341|28348|28349|38806|254180|254181|254182|254183|254184|254185|314178|314179|314187|314188|314190|314191|320729|320749|320751|320758|320767|320768|326803|326804|326811|327768|327769|327773|712845|724459|752685|768463|868030|868031|868032|868033|868034|868035|868650|868651|868652", + "upstreamId": "28341|28348|28349|38806|254180|254181|254182|254183|254184|254185|314178|314179|314187|314188|314190|314191|320729|320749|320751|320758|320767|320768|326803|326804|326811|327768|327769|327773|712845|724459|752685|768463|868030|868031|868032|868033|868034|868035|868650|868651|868652", "text": "Prothrombin deficiency, congenital" }, { - "baseId": "28342|28343|28344|28345|28346|28349|28350|28351|28352|28353|327765", + "upstreamId": "28342|28343|28344|28345|28346|28349|28350|28351|28352|28353|327765", "text": "Hereditary factor II deficiency disease" }, { - "baseId": "28347", + "upstreamId": "28347", "text": "DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II" }, { - "baseId": "28349", + "upstreamId": "28349", "text": "Pregnancy loss, recurrent, susceptibility to, 2" }, { - "baseId": "28349", + "upstreamId": "28349", "text": "Venous thromboembolism" }, { - "baseId": "28355", + "upstreamId": "28355", "text": "Protein S Heerlen" }, { - "baseId": "28355|28357|38801|38802|38803|38804|171086|171089|171093|171096|212337|212338|212339|212340|212341|221425|221426|251293|291738|293097|293103|293105|296397|393153|393805|393807|439356|451897|453148|453197|453200|453563|495151|519613|519665|559528|559529|559531|559533|559684|559686|561822|615353|631800|631801|631802|651145|683599|683600|686466|759373|819422|819423|828582|828583|828584|828585|828586|828587|851095|851096|851473|851475|858404|923363|923364|932088|932089|932090|940766|943706|943707|943708|953596|959708", + "upstreamId": "28355|28357|38801|38802|38803|38804|171086|171089|171093|171096|212337|212338|212339|212340|212341|221425|221426|251293|291738|293097|293103|293105|296397|393153|393805|393807|439356|451897|453148|453197|453200|453563|495151|519613|519665|559528|559529|559531|559533|559684|559686|561822|615353|631800|631801|631802|651145|683599|683600|686466|759373|819422|819423|828582|828583|828584|828585|828586|828587|851095|851096|851473|851475|858404|923363|923364|932088|932089|932090|940766|943706|943707|943708|953596|959708", "text": "Thrombophilia due to protein S deficiency, autosomal recessive" }, { - "baseId": "28355|28356|28357|28358|28359|28360|28361|28362|38801|171085|171086|171087|171088|171089|171090|171091|171092|171093|171094|171095|171096|172172|212341|221425|251293|291735|291737|291738|291740|291741|291748|291749|293081|293083|293085|293086|293087|293090|293091|293097|293103|293104|293105|293109|296350|296359|296371|296372|296373|296375|296376|296379|296385|296391|296395|296396|296397|296399|296401|296406|296407|519665|683599|790423|800394|889754|889755|889756|889757|889758|889759|889760|889761|889762|889763|889764|889765|889766|889767|889768|889769|889770|889771|889772|889773|889774|889775|889776|889777|889778|889779|889780|889781|889782|891711|891712|891713|970779", + "upstreamId": "28355|28356|28357|28358|28359|28360|28361|28362|38801|171085|171086|171087|171088|171089|171090|171091|171092|171093|171094|171095|171096|172172|212341|221425|251293|291735|291737|291738|291740|291741|291748|291749|293081|293083|293085|293086|293087|293090|293091|293097|293103|293104|293105|293109|296350|296359|296371|296372|296373|296375|296376|296379|296385|296391|296395|296396|296397|296399|296401|296406|296407|519665|683599|790423|800394|889754|889755|889756|889757|889758|889759|889760|889761|889762|889763|889764|889765|889766|889767|889768|889769|889770|889771|889772|889773|889774|889775|889776|889777|889778|889779|889780|889781|889782|891711|891712|891713|970779", "text": "Thrombophilia due to protein S deficiency, autosomal dominant" }, { - "baseId": "28362|171093|171096|212340|212341|293105|495151|559686|615349|615350|615351|615352|615353|615354|615355|615356|615357|615358|615359|615360|615362|615363|615364|615365|615366|615367|615368|615370|615372|615373|615722|615866|801511", + "upstreamId": "28362|171093|171096|212340|212341|293105|495151|559686|615349|615350|615351|615352|615353|615354|615355|615356|615357|615358|615359|615360|615362|615363|615364|615365|615366|615367|615368|615370|615372|615373|615722|615866|801511", "text": "Reduced protein S activity" }, { - "baseId": "28363|28363|28364|28365|28365|28365|28365|28366|28366|28366|28367|28367|28368|28369|28370|28370|28372|28372|28373|28379|28381|28382|28383|28384|45369|45370|48957|48959|48965|48972|48983|48986|48992|48994|48997|48998|49006|49010|49012|49023|49024|49028|49029|49031|49032|49032|49033|49036|49040|53765|53766|53775|70453|76574|138851|142546|142548|175395|175398|230259|316040|316041|316046|316051|316057|316064|316065|323294|323298|323300|323304|323305|323306|323307|329404|329406|329458|329467|329470|329471|329472|329473|329475|329476|329477|329478|329485|329521|330584|330589|330590|330591|330595|330611|330625|330626|330628|330630|330634|429364|481135|481136|481137|487580|582588|869289|869290|869291|869292|869293|869294|869295|869296|869297|869298|869299|869300|869301|869302|869303|869304|869305|869306|869307|869308|869309|869310|869311|869312|869313|869314|869315|869316|869317|919411|920310|964372", + "upstreamId": "28363|28363|28364|28365|28365|28365|28365|28366|28366|28366|28367|28367|28368|28369|28370|28370|28372|28372|28373|28379|28381|28382|28383|28384|45369|45370|48957|48959|48965|48972|48983|48986|48992|48994|48997|48998|49006|49010|49012|49023|49024|49028|49029|49031|49032|49032|49033|49036|49040|53765|53766|53775|70453|76574|138851|142546|142548|175395|175398|230259|316040|316041|316046|316051|316057|316064|316065|323294|323298|323300|323304|323305|323306|323307|329404|329406|329458|329467|329470|329471|329472|329473|329475|329476|329477|329478|329485|329521|330584|330589|330590|330591|330595|330611|330625|330626|330628|330630|330634|429364|481135|481136|481137|487580|582588|869289|869290|869291|869292|869293|869294|869295|869296|869297|869298|869299|869300|869301|869302|869303|869304|869305|869306|869307|869308|869309|869310|869311|869312|869313|869314|869315|869316|869317|919411|920310|964372", "text": "LEOPARD syndrome 1" }, { - "baseId": "28363|28364|28365|28365|28366|28367|28368|28370|28372|28372|28373|28379|28386|28387|28388|40225|40226|40227|40228|40229|40230|40231|40232|40233|45369|45370|48957|48959|48972|48983|48984|48986|48992|48994|48997|48998|49006|49010|49012|49028|49029|49032|49032|49040|49040|53765|53766|53766|53775|53778|138851|142546|142548|175395|175398|316040|316041|316045|316046|316051|316054|316057|316064|316065|323294|323298|323300|323301|323302|323303|323304|323305|323306|323307|329404|329406|329407|329458|329467|329470|329471|329472|329473|329475|329476|329477|329478|329485|329521|330584|330589|330590|330591|330595|330605|330607|330611|330625|330626|330628|330630|330634|429364|481135|481136|481137|487580|582588|791197|818296|869289|869290|869291|869292|869293|869294|869295|869296|869297|869298|869299|869300|869301|869302|869303|869304|869305|869306|869307|869308|869309|869310|869311|869312|869313|869314|869315|869316|869317|969669", + "upstreamId": "28363|28364|28365|28365|28366|28367|28368|28370|28372|28372|28373|28379|28386|28387|28388|40225|40226|40227|40228|40229|40230|40231|40232|40233|45369|45370|48957|48959|48972|48983|48984|48986|48992|48994|48997|48998|49006|49010|49012|49028|49029|49032|49032|49040|49040|53765|53766|53766|53775|53778|138851|142546|142548|175395|175398|316040|316041|316045|316046|316051|316054|316057|316064|316065|323294|323298|323300|323301|323302|323303|323304|323305|323306|323307|329404|329406|329407|329458|329467|329470|329471|329472|329473|329475|329476|329477|329478|329485|329521|330584|330589|330590|330591|330595|330605|330607|330611|330625|330626|330628|330630|330634|429364|481135|481136|481137|487580|582588|791197|818296|869289|869290|869291|869292|869293|869294|869295|869296|869297|869298|869299|869300|869301|869302|869303|869304|869305|869306|869307|869308|869309|869310|869311|869312|869313|869314|869315|869316|869317|969669", "text": "Metachondromatosis" }, { - "baseId": "28366|48993", + "upstreamId": "28366|48993", "text": "PTPN11 Related Disorders" }, { - "baseId": "28367|28367|28370|28381|28382|28383|28383|28996|28996|28999|28999|34193|34194|38762|48818|48988|48995|49016|49023|49024|49033|49036|49043|49288|53792|53987|53988|173750|179051|289310|292323|301998|302001|309875|310013|316045|316054|323301|323302|323303|329407|330605|330607|497522|653974", + "upstreamId": "28367|28367|28370|28381|28382|28383|28383|28996|28996|28999|28999|34193|34194|38762|48818|48988|48995|49016|49023|49024|49033|49036|49043|49288|53792|53987|53988|173750|179051|289310|292323|301998|302001|309875|310013|316045|316054|323301|323302|323303|329407|330605|330607|497522|653974", "text": "Noonan syndrome with multiple lentigines" }, { - "baseId": "28367|28846|28847|28848|28849|48871|48878|48882|48888|48889|48891|48894|48897|54364|54365|54368|54369|54370|54372|54375|54376|54378|70452|125841|125841|125842|137546|137547|137551|137552|140366|140367|140368|175068|175346|179156|179160|179163|179164|264601|312586|312604|312607|312608|312610|312611|312612|312616|312618|312620|312629|312630|312637|312639|312650|312655|312660|312663|312664|312665|312672|312681|312685|312688|312696|312697|312698|312705|312719|312728|312732|312733|312734|312738|312740|312741|312742|318571|318577|318588|318589|318593|318601|318603|318608|318609|318625|318626|318644|318648|318664|318686|318688|318699|318705|318706|318711|318712|318713|318718|318722|318724|318726|318729|318734|318735|318739|324722|324734|324736|324737|324739|324753|324763|324766|324771|324782|324784|324786|324789|324790|324794|324795|324800|324801|324805|324806|324808|324816|324817|324822|324824|324826|324828|324830|324831|325444|325446|325448|325477|325479|325481|325482|325483|325490|325508|325515|325527|325533|325535|325542|325546|325564|325571|325572|325573|325575|325576|325577|325581|325583|325586|325600|325614|325619|325630|325637|325655|325656|325659|325668|325692|325694|325696|361723|361724|361725|460920|460955|481134|494968|504109|514315|526034|538420|552646|567080|677434|680062|867135|867136|867137|867138|867139|867140|867141|867142|867143|867144|867145|867146|867147|867148|867149|867150|867151|867152|867153|867154|867155|867156|867157|867158|867159|867160|867161|867162|867163|867164|867165|867166|867167|867168|867169|867170|867171|867172|867173|867174|867175|867176|867177|867178|867179|867180|867181|867182|867183|867184|867185|867186|867187|867188|867189|867190|867191|867192|867193|867194|867195|867196|867197|867198|867199|919324|919325|919326|919327|964107", + "upstreamId": "28367|28846|28847|28848|28849|48871|48878|48882|48888|48889|48891|48894|48897|54364|54365|54368|54369|54370|54372|54375|54376|54378|70452|125841|125841|125842|137546|137547|137551|137552|140366|140367|140368|175068|175346|179156|179160|179163|179164|264601|312586|312604|312607|312608|312610|312611|312612|312616|312618|312620|312629|312630|312637|312639|312650|312655|312660|312663|312664|312665|312672|312681|312685|312688|312696|312697|312698|312705|312719|312728|312732|312733|312734|312738|312740|312741|312742|318571|318577|318588|318589|318593|318601|318603|318608|318609|318625|318626|318644|318648|318664|318686|318688|318699|318705|318706|318711|318712|318713|318718|318722|318724|318726|318729|318734|318735|318739|324722|324734|324736|324737|324739|324753|324763|324766|324771|324782|324784|324786|324789|324790|324794|324795|324800|324801|324805|324806|324808|324816|324817|324822|324824|324826|324828|324830|324831|325444|325446|325448|325477|325479|325481|325482|325483|325490|325508|325515|325527|325533|325535|325542|325546|325564|325571|325572|325573|325575|325576|325577|325581|325583|325586|325600|325614|325619|325630|325637|325655|325656|325659|325668|325692|325694|325696|361723|361724|361725|460920|460955|481134|494968|504109|514315|526034|538420|552646|567080|677434|680062|867135|867136|867137|867138|867139|867140|867141|867142|867143|867144|867145|867146|867147|867148|867149|867150|867151|867152|867153|867154|867155|867156|867157|867158|867159|867160|867161|867162|867163|867164|867165|867166|867167|867168|867169|867170|867171|867172|867173|867174|867175|867176|867177|867178|867179|867180|867181|867182|867183|867184|867185|867186|867187|867188|867189|867190|867191|867192|867193|867194|867195|867196|867197|867198|867199|919324|919325|919326|919327|964107", "text": "Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia" }, { - "baseId": "28370|48992", + "upstreamId": "28370|48992", "text": "PTPN11-related disorder" }, { - "baseId": "28372|152318", + "upstreamId": "28372|152318", "text": "B lymphoblastic leukemia lymphoma, no ICD-O subtype" }, { - "baseId": "28374|204572|204573|204574", + "upstreamId": "28374|204572|204573|204574", "text": "Early T cell progenitor acute lymphoblastic leukemia" }, { - "baseId": "28375|28377|28378|133499|152038|166215|226759|226760|362770|362772|363307|363308|363309|363314|427762|488237|495045|495046|495913|513987", + "upstreamId": "28375|28377|28378|133499|152038|166215|226759|226760|362770|362772|363307|363308|363309|363314|427762|488237|495045|495046|495913|513987", "text": "Astrocytoma" }, { - "baseId": "28375|29000|965412|965413", + "upstreamId": "28375|29000|965412|965413", "text": "Cancer" }, { - "baseId": "28389|28390|28390|28391|49212|49213|49251|188202|230599|264875|264875|362860|569565|624057|822305|857582", + "upstreamId": "28389|28390|28390|28391|49212|49213|49251|188202|230599|264875|264875|362860|569565|624057|822305|857582", "text": "Cardiofaciocutaneous syndrome 3" }, { - "baseId": "28390", + "upstreamId": "28390", "text": "Melorheostosis" }, { - "baseId": "28392|28393|28394|28395|28396|28397|28398|206996|285610|285611|285622|285624|285631|286339|286340|288641|288642|289041|289047|289053|428043|443218|485896|654118|654119|719787|719788|884457|884458|884459|884460|884461|884462|884463|884464|884465|884466", + "upstreamId": "28392|28393|28394|28395|28396|28397|28398|206996|285610|285611|285622|285624|285631|286339|286340|288641|288642|289041|289047|289053|428043|443218|485896|654118|654119|719787|719788|884457|884458|884459|884460|884461|884462|884463|884464|884465|884466", "text": "Proopiomelanocortin deficiency" }, { - "baseId": "28395", + "upstreamId": "28395", "text": "Obesity, early-onset, susceptibility to" }, { - "baseId": "28400|28401|28402|28405|28406|28413|28414|99987|253829|253830|253834|253835|253836|267598|310748|310749|310750|310752|310754|310757|310768|310771|310773|310774|310779|310781|310792|310793|310803|310804|316048|316049|316050|316052|316053|316055|316058|316059|316062|322105|322106|322113|322114|322116|322118|322124|322126|322147|322152|322727|322728|322729|322732|322761|322766|322775|322777|322778|322779|407907|432427|437863|437864|438867|553410|553411|563935|566479|639143|639144|712458|712459|712460|724053|724054|730706|737588|737589|737590|737591|752247|752248|752249|752250|752251|752252|752253|752254|767959|767960|767962|767963|767964|767965|767970|775547|775552|783729|783733|783735|783736|787867|802173|820239|822047|837276|837277|866168|866169|866170|866171|866172|866173|866174|866175|866176|866177|866178|866179|866180|866181|866182|868499|935168|956199|960728", + "upstreamId": "28400|28401|28402|28405|28406|28413|28414|99987|253829|253830|253834|253835|253836|267598|310748|310749|310750|310752|310754|310757|310768|310771|310773|310774|310779|310781|310792|310793|310803|310804|316048|316049|316050|316052|316053|316055|316058|316059|316062|322105|322106|322113|322114|322116|322118|322124|322126|322147|322152|322727|322728|322729|322732|322761|322766|322775|322777|322778|322779|407907|432427|437863|437864|438867|553410|553411|563935|566479|639143|639144|712458|712459|712460|724053|724054|730706|737588|737589|737590|737591|752247|752248|752249|752250|752251|752252|752253|752254|767959|767960|767962|767963|767964|767965|767970|775547|775552|783729|783733|783735|783736|787867|802173|820239|822047|837276|837277|866168|866169|866170|866171|866172|866173|866174|866175|866176|866177|866178|866179|866180|866181|866182|868499|935168|956199|960728", "text": "Sphingolipid activator protein 1 deficiency" }, { - "baseId": "28402|28404|28407|28412|55236|55237|55239|55244|55245|55246|55247|99987|137043|175007|175287|175289|253829|253830|253834|253835|253836|310742|310745|310748|310749|310750|310752|310754|310757|310768|310771|310773|310774|310779|310781|310792|310793|310803|310804|310806|310808|310811|316006|316010|316044|316047|316048|316049|316050|316052|316053|316055|316058|316059|316062|316063|322088|322102|322105|322106|322108|322109|322113|322114|322116|322118|322124|322126|322147|322152|322165|322166|322713|322714|322725|322726|322727|322728|322729|322732|322738|322761|322766|322775|322776|322777|322778|322779|353137|353139|353147|353148|353153|432427|767962|866168|866169|866170|866171|866172|866173|866174|866175|866176|866177|866178|866179|866180|866181|866182|868499", + "upstreamId": "28402|28404|28407|28412|55236|55237|55239|55244|55245|55246|55247|99987|137043|175007|175287|175289|253829|253830|253834|253835|253836|310742|310745|310748|310749|310750|310752|310754|310757|310768|310771|310773|310774|310779|310781|310792|310793|310803|310804|310806|310808|310811|316006|316010|316044|316047|316048|316049|316050|316052|316053|316055|316058|316059|316062|316063|322088|322102|322105|322106|322108|322109|322113|322114|322116|322118|322124|322126|322147|322152|322165|322166|322713|322714|322725|322726|322727|322728|322729|322732|322738|322761|322766|322775|322776|322777|322778|322779|353137|353139|353147|353148|353153|432427|767962|866168|866169|866170|866171|866172|866173|866174|866175|866176|866177|866178|866179|866180|866181|866182|868499", "text": "Combined saposin deficiency" }, { - "baseId": "28403|28404|28409|28410|28411|99987|253829|253830|253834|253835|253836|310748|310749|310750|310752|310754|310757|310768|310771|310773|310774|310779|310781|310792|310793|310803|310804|316048|316049|316050|316052|316053|316055|316058|316059|316062|322105|322106|322113|322114|322116|322118|322124|322126|322147|322152|322727|322728|322729|322732|322761|322766|322775|322777|322778|322779|432427|767962|866168|866169|866170|866171|866172|866173|866174|866175|866176|866177|866178|866179|866180|866181|866182|868499", + "upstreamId": "28403|28404|28409|28410|28411|99987|253829|253830|253834|253835|253836|310748|310749|310750|310752|310754|310757|310768|310771|310773|310774|310779|310781|310792|310793|310803|310804|316048|316049|316050|316052|316053|316055|316058|316059|316062|322105|322106|322113|322114|322116|322118|322124|322126|322147|322152|322727|322728|322729|322732|322761|322766|322775|322777|322778|322779|432427|767962|866168|866169|866170|866171|866172|866173|866174|866175|866176|866177|866178|866179|866180|866181|866182|868499", "text": "Gaucher disease, atypical, due to saposin C deficiency" }, { - "baseId": "28408|99987|253829|253830|253834|253835|253836|310748|310749|310750|310752|310754|310757|310768|310771|310773|310774|310779|310781|310792|310793|310803|310804|316048|316049|316050|316052|316053|316055|316058|316059|316062|322105|322106|322113|322114|322116|322118|322124|322126|322147|322152|322727|322728|322729|322732|322761|322766|322775|322777|322778|322779|432427|767962|866168|866169|866170|866171|866172|866173|866174|866175|866176|866177|866178|866179|866180|866181|866182|868499", + "upstreamId": "28408|99987|253829|253830|253834|253835|253836|310748|310749|310750|310752|310754|310757|310768|310771|310773|310774|310779|310781|310792|310793|310803|310804|316048|316049|316050|316052|316053|316055|316058|316059|316062|322105|322106|322113|322114|322116|322118|322124|322126|322147|322152|322727|322728|322729|322732|322761|322766|322775|322777|322778|322779|432427|767962|866168|866169|866170|866171|866172|866173|866174|866175|866176|866177|866178|866179|866180|866181|866182|868499", "text": "Krabbe disease, atypical, due to saposin A deficiency" }, { - "baseId": "28415", + "upstreamId": "28415", "text": "Skeletal defects, genital hypoplasia, and mental retardation" }, { - "baseId": "28416|28417|28418|28419|28420|28421|28422", + "upstreamId": "28416|28417|28418|28419|28420|28421|28422", "text": "Hyperproinsulinemia" }, { - "baseId": "28426|28427|28428|33966|33969|33974|263780", + "upstreamId": "28426|28427|28428|33966|33969|33974|263780", "text": "Permanent neonatal diabetes mellitus 4" }, { - "baseId": "28429|28430|45062|79619|134725|247779|254105|254106|313620|313624|319803|319804|319810|319823|319825|319828|325998|326977|326978|609052|737916|867734|868641|919349", + "upstreamId": "28429|28430|45062|79619|134725|247779|254105|254106|313620|313624|319803|319804|319810|319823|319825|319828|325998|326977|326978|609052|737916|867734|868641|919349", "text": "Maturity-onset diabetes of the young, type 10" }, { - "baseId": "28431|33974", + "upstreamId": "28431|33974", "text": "Diabetes mellitus, insulin-dependent, 2" }, { - "baseId": "28433|28436|28437|28442|28444|28445|28450|94480", + "upstreamId": "28433|28436|28437|28442|28444|28445|28450|94480", "text": "Jakob-Creutzfeldt disease" }, { - "baseId": "28433|28434|28435|28440|28441|28443|28449|28451|28453|28454|94479|94484", + "upstreamId": "28433|28434|28435|28440|28441|28443|28449|28451|28453|28454|94479|94484", "text": "Gerstmann-Straussler-Scheinker syndrome" }, { - "baseId": "28433|28434|28436|28437|28438|28440|28442|28444|28445|28447|28448|76402|215591|335703|345428|345429|345431|345433|351099|351103|534134|573567|705521|705522|848464", + "upstreamId": "28433|28434|28436|28437|28438|28440|28442|28444|28445|28447|28448|76402|215591|335703|345428|345429|345431|345433|351099|351103|534134|573567|705521|705522|848464", "text": "Huntington disease-like 1" }, { - "baseId": "28433|28434|28435|28436|28437|28438|28440|28441|28442|28443|28444|28445|28446|28447|28448|28450|28451|28452|28454|33999|34000|76402|215591|335689|335690|335703|335704|335706|335707|345414|345418|345420|345422|345428|345429|345431|345433|345446|345448|345450|345451|345453|345455|350066|350068|350069|350070|350073|350074|350075|350076|351099|351103|351107|351108|351109|351110|351113|351114|351116|351117|886222|886223|886224|886225|886226|886227|886228|886229|886230|886231|886232", + "upstreamId": "28433|28434|28435|28436|28437|28438|28440|28441|28442|28443|28444|28445|28446|28447|28448|28450|28451|28452|28454|33999|34000|76402|215591|335689|335690|335703|335704|335706|335707|345414|345418|345420|345422|345428|345429|345431|345433|345446|345448|345450|345451|345453|345455|350066|350068|350069|350070|350073|350074|350075|350076|351099|351103|351107|351108|351109|351110|351113|351114|351116|351117|886222|886223|886224|886225|886226|886227|886228|886229|886230|886231|886232", "text": "Genetic prion disease" }, { - "baseId": "28436", + "upstreamId": "28436", "text": "Prion disease, susceptibility to" }, { - "baseId": "28436", + "upstreamId": "28436", "text": "Alzheimer disease, early-onset, susceptibility to" }, { - "baseId": "28436", + "upstreamId": "28436", "text": "Aphasia, primary progressive, susceptibility to" }, { - "baseId": "28437", + "upstreamId": "28437", "text": "Fatal familial insomnia" }, { - "baseId": "28446|28447|28451|28452|446895|446896", + "upstreamId": "28446|28447|28451|28452|446895|446896", "text": "Spongiform encephalopathy with neuropsychiatric features" }, { - "baseId": "28448", + "upstreamId": "28448", "text": "Protection against Creutzfeldt-Jakob disease" }, { - "baseId": "28455", + "upstreamId": "28455", "text": "Kuru, protection against" }, { - "baseId": "28456|28465|28470|28492|28493|179808", + "upstreamId": "28456|28465|28470|28492|28493|179808", "text": "Dystransthyretinemic euthyroidal hyperthyroxinemia" }, { - "baseId": "28456|28465|28492|179808|245092", + "upstreamId": "28456|28465|28492|179808|245092", "text": "Carpal tunnel syndrome" }, { - "baseId": "28464|28491", + "upstreamId": "28464|28491", "text": "TRANSTHYRETIN POLYMORPHISM" }, { - "baseId": "28465", + "upstreamId": "28465", "text": "Amyloid Cardiomyopathy, Transthyretin-related" }, { - "baseId": "28465|378413|615637", + "upstreamId": "28465|378413|615637", "text": "Pancytopenia" }, { - "baseId": "28465|226418|378413|590067|590098|966329|966331", + "upstreamId": "28465|226418|378413|590067|590098|966329|966331", "text": "Bone marrow hypocellularity" }, { - "baseId": "28465|30100|30200|30372|30694|360899|378413|513937|800975|800982|801226|801230|801247|857396", + "upstreamId": "28465|30100|30200|30372|30694|360899|378413|513937|800975|800982|801226|801230|801247|857396", "text": "Anemia" }, { - "baseId": "28465", + "upstreamId": "28465", "text": "ATTRV122I amyloidosis" }, { - "baseId": "28465", + "upstreamId": "28465", "text": "Postural tremor" }, { - "baseId": "28466|33195|40479|53708|54876|55760|55779|56325|56349|56354|56601|101339|172615|189264|265307|460115|488925|509961|520740|679409", + "upstreamId": "28466|33195|40479|53708|54876|55760|55779|56325|56349|56354|56601|101339|172615|189264|265307|460115|488925|509961|520740|679409", "text": "Heart failure" }, { - "baseId": "28473", + "upstreamId": "28473", "text": "AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED, MODIFIER OF" }, { - "baseId": "28488", + "upstreamId": "28488", "text": "Carpal tunnel syndrome, familial" }, { - "baseId": "28500|28501|28502|28504|28505|28506", + "upstreamId": "28500|28501|28502|28504|28505|28506", "text": "AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED" }, { - "baseId": "28508|28509|28510|28511|132634|132635|189345|189346|189348|189349|189350|189351|189352|189353|189354|189356|189357|254607|317548|317549|317551|317552|317562|325380|325381|325387|331616|331621|331622|331625|333126|333129|333133|333135|360948|462262|462270|462276|462280|462286|462292|462511|462519|462525|462528|462538|462540|462542|462545|463008|463016|463140|463145|463149|463153|463156|463158|463166|463167|514020|527200|527207|527208|527210|527211|527216|527217|527454|527456|527460|527461|527756|527767|565534|565541|566861|566866|566871|566872|566879|568088|568090|571881|587516|641186|641187|641188|641189|641190|641191|641192|641193|641194|641195|684330|688004|688005|688006|688007|688011|688012|725141|738695|738696|769179|769180|840004|840005|840006|840007|840008|840009|840010|840011|840012|840013|840014|840015|840016|840017|840018|840019|840020|840021|870021|870022|870023|870024|870025|870026|870027|870028|870029|870030|870031|870032|870033|870034|919448|919449|926657|926658|926659|936148|936149|948059|948060|948061|948062|948063|948064|948065|956896|956897", + "upstreamId": "28508|28509|28510|28511|132634|132635|189345|189346|189348|189349|189350|189351|189352|189353|189354|189356|189357|254607|317548|317549|317551|317552|317562|325380|325381|325387|331616|331621|331622|331625|333126|333129|333133|333135|360948|462262|462270|462276|462280|462286|462292|462511|462519|462525|462528|462538|462540|462542|462545|463008|463016|463140|463145|463149|463153|463156|463158|463166|463167|514020|527200|527207|527208|527210|527211|527216|527217|527454|527456|527460|527461|527756|527767|565534|565541|566861|566866|566871|566872|566879|568088|568090|571881|587516|641186|641187|641188|641189|641190|641191|641192|641193|641194|641195|684330|688004|688005|688006|688007|688011|688012|725141|738695|738696|769179|769180|840004|840005|840006|840007|840008|840009|840010|840011|840012|840013|840014|840015|840016|840017|840018|840019|840020|840021|870021|870022|870023|870024|870025|870026|870027|870028|870029|870030|870031|870032|870033|870034|919448|919449|926657|926658|926659|936148|936149|948059|948060|948061|948062|948063|948064|948065|956896|956897", "text": "Atrial fibrillation, familial, 7" }, { - "baseId": "28512|28513|190461|205316|245205|272412|272421|442245|512879|512880|513379|577817|791944|791945|964525", + "upstreamId": "28512|28513|190461|205316|245205|272412|272421|442245|512879|512880|513379|577817|791944|791945|964525", "text": "Spinocerebellar ataxia type 13" }, { - "baseId": "28514|28515|28516|28518|136399|136421|136425|136427|136431|176235|176358|231116|336618|336619|336622|336628|336632|336636|336638|336641|336648|336656|336659|336663|336668|336670|336674|346327|346329|346330|346335|346336|346337|346339|346340|346343|346344|346347|346349|346350|346351|346352|346354|350566|350568|350569|350571|350572|350574|350575|350577|350578|350583|350586|350589|350592|350593|351609|351612|351613|351616|351619|351620|351623|351628|351636|351637|351639|351640|351644|351645|351647|351648|351650|497529|507490|537651|537652|537653|848735|886695|886696|886697|886698|886699|886700|886701|886702|886703|886704|886705|886706|886707|886708|886709|886710|886711|886712|886713|886714|886715", + "upstreamId": "28514|28515|28516|28518|136399|136421|136425|136427|136431|176235|176358|231116|336618|336619|336622|336628|336632|336636|336638|336641|336648|336656|336659|336663|336668|336670|336674|346327|346329|346330|346335|346336|346337|346339|346340|346343|346344|346347|346349|346350|346351|346352|346354|350566|350568|350569|350571|350572|350574|350575|350577|350578|350583|350586|350589|350592|350593|351609|351612|351613|351616|351619|351620|351623|351628|351636|351637|351639|351640|351644|351645|351647|351648|351650|497529|507490|537651|537652|537653|848735|886695|886696|886697|886698|886699|886700|886701|886702|886703|886704|886705|886706|886707|886708|886709|886710|886711|886712|886713|886714|886715", "text": "Jervell and Lange-Nielsen syndrome 2" }, { - "baseId": "28516|28517|28518|136399|136418|136421|136424|136426|136427|176235|176358|231116|336618|336619|336622|336628|336632|336636|336638|336641|336648|336656|336659|336663|336668|336670|336674|346327|346329|346330|346335|346336|346337|346339|346340|346343|346344|346347|346349|346350|346351|346352|346354|350566|350568|350569|350571|350572|350574|350575|350577|350578|350583|350586|350589|350592|350593|351609|351612|351613|351616|351619|351620|351623|351628|351636|351637|351639|351640|351644|351645|351647|351648|351650|497529|507490|589845|680057|848735|886695|886696|886697|886698|886699|886700|886701|886702|886703|886704|886705|886706|886707|886708|886709|886710|886711|886712|886713|886714|886715", + "upstreamId": "28516|28517|28518|136399|136418|136421|136424|136426|136427|176235|176358|231116|336618|336619|336622|336628|336632|336636|336638|336641|336648|336656|336659|336663|336668|336670|336674|346327|346329|346330|346335|346336|346337|346339|346340|346343|346344|346347|346349|346350|346351|346352|346354|350566|350568|350569|350571|350572|350574|350575|350577|350578|350583|350586|350589|350592|350593|351609|351612|351613|351616|351619|351620|351623|351628|351636|351637|351639|351640|351644|351645|351647|351648|351650|497529|507490|589845|680057|848735|886695|886696|886697|886698|886699|886700|886701|886702|886703|886704|886705|886706|886707|886708|886709|886710|886711|886712|886713|886714|886715", "text": "Long QT syndrome 5" }, { - "baseId": "28516|51661|67638|67718|67740|77926|141708|187117|197424|313787|313794|313799|313800|313812|313813|313817|319980|319984|319986|319987|319988|320021|320022|320025|326169|326170|326178|326190|326206|326214|327120|327127|327130|336624|336627|336647|346356|350579|350595|350597|351633|351642|353590", + "upstreamId": "28516|51661|67638|67718|67740|77926|141708|187117|197424|313787|313794|313799|313800|313812|313813|313817|319980|319984|319986|319987|319988|320021|320022|320025|326169|326170|326178|326190|326206|326214|327120|327127|327130|336624|336627|336647|346356|350579|350595|350597|351633|351642|353590", "text": "Jervell and Lange-Nielsen syndrome" }, { - "baseId": "28518", + "upstreamId": "28518", "text": "Long QT syndrome 5, acquired, susceptibility to" }, { - "baseId": "28518|29479", + "upstreamId": "28518|29479", "text": "Long QT syndrome 2/5" }, { - "baseId": 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+ "upstreamId": "28519|28520|28521|28522|28523|28524|28525|28526|28527|28530|28531|33979|33980|33982|134759|192204|192205|192206|192207|274919|317386|317387|317395|317398|317401|317404|317407|317412|317415|317416|317418|317428|317433|317435|317451|317452|317456|317458|317463|317465|317470|325231|325232|325236|325238|325240|325255|325260|325265|325267|325271|325273|325279|325285|325287|325288|325294|325295|325296|325316|325326|331460|331461|331463|331468|331474|331475|331487|331488|331489|331495|331500|331501|331511|331539|331540|331542|331561|331563|331564|331565|331579|331582|331598|331600|332852|332867|332877|332887|332891|332895|332906|332918|332919|332921|332922|332923|332925|332931|332944|332947|332950|332955|332959|332969|332977|332979|332986|332996|332998|333005|333012|333013|333026|333027|333033|361311|424900|441551|441552|441553|445033|462249|462252|462258|462259|462503|462504|462507|527204|565532|566859|571880|577273|577277|641181|641182|641183|641184|641185|693223|702340|702342|713555|738681|820504|839993|839994|839995|839996|839997|839998|839999|869931|869932|869933|869934|869935|869936|869937|869938|869939|869940|869941|869942|869943|869944|869945|869946|869947|869948|869949|869950|869951|869952|869953|869954|869955|869956|869957|869958|869959|869960|869961|869962|869963|869964|869965|869966|869967|869968|869969|869970|869971|869972|869973|869974|869975|869976|869977|869978|869979|926653|926654|926655|926656|936146|936147|948051|948052|948053|948054|948055|948056|948057|956894|956895", "text": "Episodic ataxia type 1" }, { - "baseId": "28528|28529|28532", + "upstreamId": "28528|28529|28532", "text": "Myokymia 1" }, { - "baseId": "28533", + "upstreamId": "28533", "text": "Myokymia 1 with hypomagnesemia" }, { - "baseId": "28534|28535|28541|28541|28547|28548|28552|28553|76573|142453|142463|190806|193515|202922|202990|203013|203030|203044|203050|242144|445459|539063|576169|610742|614404|677036|682353|682358", + "upstreamId": "28534|28535|28541|28541|28547|28548|28552|28553|76573|142453|142463|190806|193515|202922|202990|203013|203030|203044|203050|242144|445459|539063|576169|610742|614404|677036|682353|682358", "text": "Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1" }, { - "baseId": "28535|28536|28537|28541|28541|28542|28544|28551|28552|28552|76573|142453|142463|190806|193515|202922|202990|203013|203028|203030|203050|242144|264639|576169|614404|972490", + "upstreamId": "28535|28536|28537|28541|28541|28542|28544|28551|28552|28552|76573|142453|142463|190806|193515|202922|202990|203013|203028|203030|203050|242144|264639|576169|614404|972490", "text": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1" }, { - "baseId": "28535|28546|28549", + "upstreamId": "28535|28546|28549", "text": "Myoclonic epilepsy myopathy sensory ataxia" }, { - "baseId": "28535|28540|28541|28542|28546|28548|28552|34162|34163|34164|34168|34170|34172|76573|135435|135436|135437|135438|135439|135440|135443|135445|142446|142447|142448|142449|142450|142451|142453|142455|142456|142457|142458|142459|142463|142469|142472|142475|142478|142479|142480|142482|177972|191896|192343|192648|193515|195312|202902|202928|202938|202940|202951|202955|202973|202975|202976|202978|202990|202996|203006|203013|203019|203024|203034|203036|203045|203048|203069|255389|264890|323491|323492|323499|323502|323507|323510|323514|323515|323523|323524|333243|333247|333252|333256|333262|333263|333274|340022|340026|340029|340031|340032|340034|340038|340039|341436|341440|341442|341443|341446|341447|341448|341451|341453|341454|373804|376794|400903|409375|445463|529683|569200|584698|610721|610779|610783|874251|874252|874253|874255|874256|874257|874258|874259|874260|874261|874262|874263|874264|874265|874266|874267", + "upstreamId": "28535|28540|28541|28542|28546|28548|28552|34162|34163|34164|34168|34170|34172|76573|135435|135436|135437|135438|135439|135440|135443|135445|142446|142447|142448|142449|142450|142451|142453|142455|142456|142457|142458|142459|142463|142469|142472|142475|142478|142479|142480|142482|177972|191896|192343|192648|193515|195312|202902|202928|202938|202940|202951|202955|202973|202975|202976|202978|202990|202996|203006|203013|203019|203024|203034|203036|203045|203048|203069|255389|264890|323491|323492|323499|323502|323507|323510|323514|323515|323523|323524|333243|333247|333252|333256|333262|333263|333274|340022|340026|340029|340031|340032|340034|340038|340039|341436|341440|341442|341443|341446|341447|341448|341451|341453|341454|373804|376794|400903|409375|445463|529683|569200|584698|610721|610779|610783|874251|874252|874253|874255|874256|874257|874258|874259|874260|874261|874262|874263|874264|874265|874266|874267", "text": "POLG-Related Spectrum Disorders" }, { - "baseId": "28535", + "upstreamId": "28535", "text": "POLG- Related Disorders" }, { - "baseId": "28535", + "upstreamId": "28535", "text": "POLG-related condition" }, { - "baseId": "28535|193515|202940|376748|426135|441759|610770", + "upstreamId": "28535|193515|202940|376748|426135|441759|610770", "text": "POLG-related disorders" }, { - "baseId": "28541", + "upstreamId": "28541", "text": "POLG- Related Disorder" }, { - "baseId": "28554", + "upstreamId": "28554", "text": "Abnormality of corpus callosum" }, { - "baseId": 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+ "upstreamId": "28556|28557|28558|28559|28560|28561|28562|28563|28564|48615|48616|98699|98702|98703|98705|190244|221477|221478|221479|221480|239510|251600|251601|251602|251603|251605|263858|264213|271631|273640|294560|294561|294562|294569|294581|294583|294584|294585|294592|294595|294603|294609|294611|294615|294623|294627|296105|296114|296117|296118|296119|296121|296123|296124|296126|296129|296131|296134|299796|299806|299826|299827|299828|299834|299837|299842|299843|299884|299885|299886|299887|299891|299898|299902|299905|299907|360862|384403|384480|390696|394265|424508|424583|427228|432293|432993|432994|432996|432998|440852|440855|440858|443643|453845|454040|513057|513058|513954|514499|520284|520287|520555|520561|550230|553432|553480|590274|590275|590276|609555|609560|613481|622101|623279|623280|623281|624283|624285|624290|625831|672059|683647|790487|793065|799373|799374|799375|799376|799377|799378|799379|799380|799381|799382|799383|799384|799385|799386|799387|815963|815964|818235|818236|861458|861459|861460|861461|861462|861463|861464|861465|861466|861467|892469|892470|892471|892472|892473|892474|892475|892476|892477|892478|892479|892480|892481|892482|892483|892484|892485|892486|892487|892488|892489|892490|892491|892492|892493|892494|892495|892496|892497|892498|892499|892500|892501|892502|892503|892504|892505|892506|918906|918907|918908|918909|918910|918911|960998|960999|962704|962705|962832|963392|980322|980918", "text": "Polycystic kidney disease 2" }, { - "baseId": "28557|28561|98699|98702|98703|98705|190113|190244|221476|221477|221478|221479|221480|226951|239510|251600|251601|251603|251605|255505|255507|255510|255511|255512|255514|255515|255518|255532|255533|255535|255541|255545|255546|255547|255548|255550|255553|255558|255563|255566|255570|255571|255575|255578|255582|255585|255589|255592|255596|255604|255611|255613|255616|255617|255621|255623|255631|255634|255635|255637|255640|255642|255645|255647|255648|255655|255662|255668|271631|273640|294581|294594|294621|296114|296119|299840|299898|299900|299908|360989|394265|424508|427226|427228|427445|427499|427508|427512|432293|432996|433156|433157|433161|433175|433181|433187|433188|433189|433190|433193|433214|433221|433223|440850|440852|440858|441850|441874|441886|453259|453591|453593|453845|453855|454029|454039|454040|495789|520284|520287|520555|520561|550558|553446|553486|553502|559706|559819|562284|564100|581288|581291|581294|610008|610012|610020|622101|624552|632517|632518|632519|632520|632521|632522|632523|632524|632525|632526|683647|683650|686563|764638|793613|793617|799381|819502|829513|829514|829515|829516|829517|829518|829519|860228|892486|932462|932463|944140|944141|953860|953861|953862|961208|964928|964929|964930|964931|964932|964933|964934|964935|964936|964937|964938|964939|964940|964941|964942|964943|964944|964945|964946|964947|964948|964949|964950|964951|964952|964953|964954|964955|964956|964957|964958|964959|964960|964961|964962|964963|964964|964965|964966|964967|964968|964969|964970|964971|964972|964973|964974|964975|964976|966192", + "upstreamId": "28557|28561|98699|98702|98703|98705|190113|190244|221476|221477|221478|221479|221480|226951|239510|251600|251601|251603|251605|255505|255507|255510|255511|255512|255514|255515|255518|255532|255533|255535|255541|255545|255546|255547|255548|255550|255553|255558|255563|255566|255570|255571|255575|255578|255582|255585|255589|255592|255596|255604|255611|255613|255616|255617|255621|255623|255631|255634|255635|255637|255640|255642|255645|255647|255648|255655|255662|255668|271631|273640|294581|294594|294621|296114|296119|299840|299898|299900|299908|360989|394265|424508|427226|427228|427445|427499|427508|427512|432293|432996|433156|433157|433161|433175|433181|433187|433188|433189|433190|433193|433214|433221|433223|440850|440852|440858|441850|441874|441886|453259|453591|453593|453845|453855|454029|454039|454040|495789|520284|520287|520555|520561|550558|553446|553486|553502|559706|559819|562284|564100|581288|581291|581294|610008|610012|610020|622101|624552|632517|632518|632519|632520|632521|632522|632523|632524|632525|632526|683647|683650|686563|764638|793613|793617|799381|819502|829513|829514|829515|829516|829517|829518|829519|860228|892486|932462|932463|944140|944141|953860|953861|953862|961208|964928|964929|964930|964931|964932|964933|964934|964935|964936|964937|964938|964939|964940|964941|964942|964943|964944|964945|964946|964947|964948|964949|964950|964951|964952|964953|964954|964955|964956|964957|964958|964959|964960|964961|964962|964963|964964|964965|964966|964967|964968|964969|964970|964971|964972|964973|964974|964975|964976|966192", "text": "Autosomal dominant polycystic kidney disease" }, { - "baseId": "28565", + "upstreamId": "28565", "text": "Berger disease" }, { - "baseId": "28566|28567", + "upstreamId": "28566|28567", "text": "SELECTIN P POLYMORPHISM" }, { - "baseId": "28568|28569|28570|28571|28572|28573", + "upstreamId": "28568|28569|28570|28571|28572|28573", "text": "Bernard-Soulier syndrome type C" }, { - "baseId": "28568|28572|193388|250908|250909|288697|289405|289406|289407|289408|292421|292427|292440|292610|292611|353614|404833|429986|514274|576180|615646|615649|620752|720140|733766|887910|887911|887912|887913|887914|887915|887916|887917|887918|887919|891562|980909", + "upstreamId": "28568|28572|193388|250908|250909|288697|289405|289406|289407|289408|292421|292427|292440|292610|292611|353614|404833|429986|514274|576180|615646|615649|620752|720140|733766|887910|887911|887912|887913|887914|887915|887916|887917|887918|887919|891562|980909", "text": "Bernard Soulier syndrome" }, { - "baseId": "28574|28575|28576|28577|28578|28579|28580|227310|227311|303443|303446|303448|303452|303453|306836|306837|306842|306843|306844|306845|306846|306850|306857|306869|311683|311685|311691|311697|311698|311699|311701|311703|311717|311718|311757|311759|311770|311772|311784|311791|311794|311795|311801|404771|404771|404772|404773|404773|620270|620271|620272|620273|620274|620275|620799|620800|620801|620802|679757|679758|711137|730513|736286|796071|861594|898413|898414|898415|898416|898417|898418|898419|898420|898421|898422|898423|898424|898425|898426|898427|898428|898429|898430|898431|898432|898433|898434|898435|898436|898437|898438|898439|898440|898441|898442|898443|898444|898445|898446|900403|900404|900405|900406|900407|961852|975889", + "upstreamId": "28574|28575|28576|28577|28578|28579|28580|227310|227311|303443|303446|303448|303452|303453|306836|306837|306842|306843|306844|306845|306846|306850|306857|306869|311683|311685|311691|311697|311698|311699|311701|311703|311717|311718|311757|311759|311770|311772|311784|311791|311794|311795|311801|404771|404771|404772|404773|404773|620270|620271|620272|620273|620274|620275|620799|620800|620801|620802|679757|679758|711137|730513|736286|796071|861594|898413|898414|898415|898416|898417|898418|898419|898420|898421|898422|898423|898424|898425|898426|898427|898428|898429|898430|898431|898432|898433|898434|898435|898436|898437|898438|898439|898440|898441|898442|898443|898444|898445|898446|900403|900404|900405|900406|900407|961852|975889", "text": "Platelet glycoprotein IV deficiency" }, { - "baseId": "28574|404848|615436", + "upstreamId": "28574|404848|615436", "text": "Inherited bleeding disorder, platelet-type" }, { - "baseId": "28577|32792", + "upstreamId": "28577|32792", "text": "Malaria, cerebral, resistance to" }, { - "baseId": "28585|28590|28591|453597|623608|623609", + "upstreamId": "28585|28590|28591|453597|623608|623609", "text": "Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal" }, { - "baseId": "28589", + "upstreamId": "28589", "text": "Hypereosinophilic syndrome, idiopathic, resistant to imatinib" }, { - "baseId": "28596", + "upstreamId": "28596", "text": "PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM" }, { - "baseId": "28597", + "upstreamId": "28597", "text": "PL(A1)/(A2) ALLOANTIGEN POLYMORPHISM" }, { - "baseId": "28598", + "upstreamId": "28598", "text": "Mo ALLOANTIGEN POLYMORPHISM" }, { - "baseId": "28600", + "upstreamId": "28600", "text": "Ca/Tu ALLOANTIGEN POLYMORPHISM" }, { - "baseId": "28610|28612|301272|301273|301278|301279|301281|301282|301284|301289|304466|304467|304468|304476|304483|304486|309077|309079|309081|309082|309170|309171|309173|309175|309176|309180|309193|309196|309200|309202|309203|309205|309211|309217|309218|309221|309223|309225|480748|480749|550804|722204|777786|897054|897055|897056|897057|897058|897059|897060|897061|897062|897063|897064|897065|897066|897067|897068|897069|897070|897071|897072|897073|897074|897075|897076|897077|897078|897079|897080|897081|897082|897083|897084|900285|900286|900287", + "upstreamId": "28610|28612|301272|301273|301278|301279|301281|301282|301284|301289|304466|304467|304468|304476|304483|304486|309077|309079|309081|309082|309170|309171|309173|309175|309176|309180|309193|309196|309200|309202|309203|309205|309211|309217|309218|309221|309223|309225|480748|480749|550804|722204|777786|897054|897055|897056|897057|897058|897059|897060|897061|897062|897063|897064|897065|897066|897067|897068|897069|897070|897071|897072|897073|897074|897075|897076|897077|897078|897079|897080|897081|897082|897083|897084|900285|900286|900287", "text": "Congenital plasminogen activator inhibitor type 1 deficiency" }, { - "baseId": "28611", + "upstreamId": "28611", "text": "Transcription level of plasminogen activator inhibitor 1" }, { - "baseId": "28613|28614|28615|28619", + "upstreamId": "28613|28614|28615|28619", "text": "Dysplasminogenemia" }, { - "baseId": "28613|28616|28617|28618|28620|28621|28622|87115|615413|615414|615725|818636|919015", + "upstreamId": "28613|28616|28617|28618|28620|28621|28622|87115|615413|615414|615725|818636|919015", "text": "Plasminogen deficiency, type I" }, { - "baseId": "28622|213961|213962|241599|373488|373500|608923|608924|608925|608926|608927|608929|614671|614672|614673|614674|614675|614676|614677|679943|679944|679945|679946|685389", + "upstreamId": "28622|213961|213962|241599|373488|373500|608923|608924|608925|608926|608927|608929|614671|614672|614673|614674|614675|614676|614677|679943|679944|679945|679946|685389", "text": "Otitis media, susceptibility to" }, { - "baseId": "28624|28625|28626|28627|28628|28629|28630|28631|28633|28636|28637|38797|38798|38799|170937|170938|190498|190851|192018|193046|266324|269091|270014|298997|299002|299009|299010|299013|299017|299018|299023|299027|299032|299033|299034|299038|299056|299057|299062|299065|299068|299072|299076|299085|299088|299089|299090|301411|301415|301416|301417|301432|301433|301438|301440|301441|301456|301459|301460|301463|301464|301465|301466|301467|301468|301469|301470|301476|301486|301487|301490|301491|301492|301502|305802|305803|305804|305805|305806|305807|305808|305814|305815|305821|305829|305832|305834|305835|305841|305843|305844|305848|305850|305853|305854|305856|305863|305868|305871|305872|305873|305875|306028|306031|306033|306046|306048|306054|306055|306059|306068|306070|306071|306074|306076|306080|306081|306089|306091|306092|306096|306100|306105|306106|306107|306113|306114|306115|306116|306117|306122|306125|306128|306129|353743|428520|538382|538383|538383|552092|552093|587222|622833|710176|735417|735419|788792|798568|858556|858557|895327|895328|895329|895330|895331|895332|895333|895334|895335|895336|895337|895338|895339|895340|895341|895342|895343|895344|895345|895346|895347|895348|895349|895350|895351|895352|895353|895354|895355|895356|895357|895358|895359|895360|895361|895362|895363|895364|895365|895366|895367|895368|895369|895370|895371|895372|895373|895374|895375|895376|895377|895378|895379|895380|895381|895382|895383|896186|896187|896188|896189|896190|976532", + "upstreamId": "28624|28625|28626|28627|28628|28629|28630|28631|28633|28636|28637|38797|38798|38799|170937|170938|190498|190851|192018|193046|266324|269091|270014|298997|299002|299009|299010|299013|299017|299018|299023|299027|299032|299033|299034|299038|299056|299057|299062|299065|299068|299072|299076|299085|299088|299089|299090|301411|301415|301416|301417|301432|301433|301438|301440|301441|301456|301459|301460|301463|301464|301465|301466|301467|301468|301469|301470|301476|301486|301487|301490|301491|301492|301502|305802|305803|305804|305805|305806|305807|305808|305814|305815|305821|305829|305832|305834|305835|305841|305843|305844|305848|305850|305853|305854|305856|305863|305868|305871|305872|305873|305875|306028|306031|306033|306046|306048|306054|306055|306059|306068|306070|306071|306074|306076|306080|306081|306089|306091|306092|306096|306100|306105|306106|306107|306113|306114|306115|306116|306117|306122|306125|306128|306129|353743|428520|538382|538383|538383|552092|552093|587222|622833|710176|735417|735419|788792|798568|858556|858557|895327|895328|895329|895330|895331|895332|895333|895334|895335|895336|895337|895338|895339|895340|895341|895342|895343|895344|895345|895346|895347|895348|895349|895350|895351|895352|895353|895354|895355|895356|895357|895358|895359|895360|895361|895362|895363|895364|895365|895366|895367|895368|895369|895370|895371|895372|895373|895374|895375|895376|895377|895378|895379|895380|895381|895382|895383|896186|896187|896188|896189|896190|976532", "text": "Arterial calcification, generalized, of infancy, 1" }, { - "baseId": "28625|28628|28629|28632|28633|28634|28635|38797|170937|170938|190498|190851|192018|193046|269091|270014|299009|299013|299017|299018|299027|299032|299033|299034|299056|299057|299062|299065|299068|299072|299076|299085|299088|299089|299090|301411|301415|301416|301417|301432|301433|301438|301440|301441|301456|301459|301460|301463|301464|301465|301466|301467|301468|301469|301470|301476|301486|301487|301491|301492|301502|305802|305805|305806|305808|305814|305815|305821|305829|305832|305841|305843|305844|305848|305853|305854|305863|305871|305872|305873|305875|306028|306048|306054|306055|306059|306068|306070|306071|306074|306076|306080|306089|306091|306092|306096|306105|306106|306107|306113|306114|306115|306116|306117|306122|306125|306128|306129|428520|437699|538382|538383|538383|587222|710176|735417|735419|895327|895328|895329|895330|895331|895332|895333|895334|895335|895336|895337|895338|895339|895340|895341|895342|895343|895344|895345|895346|895347|895348|895349|895350|895351|895352|895353|895354|895355|895356|895357|895358|895359|895360|895361|895362|895363|895364|895365|895366|895367|895368|895369|895370|895371|895372|895373|895374|895375|895376|895377|895378|895379|895380|895381|895382|895383|896186|896187|896188|896189|896190|920221", + "upstreamId": "28625|28628|28629|28632|28633|28634|28635|38797|170937|170938|190498|190851|192018|193046|269091|270014|299009|299013|299017|299018|299027|299032|299033|299034|299056|299057|299062|299065|299068|299072|299076|299085|299088|299089|299090|301411|301415|301416|301417|301432|301433|301438|301440|301441|301456|301459|301460|301463|301464|301465|301466|301467|301468|301469|301470|301476|301486|301487|301491|301492|301502|305802|305805|305806|305808|305814|305815|305821|305829|305832|305841|305843|305844|305848|305853|305854|305863|305871|305872|305873|305875|306028|306048|306054|306055|306059|306068|306070|306071|306074|306076|306080|306089|306091|306092|306096|306105|306106|306107|306113|306114|306115|306116|306117|306122|306125|306128|306129|428520|437699|538382|538383|538383|587222|710176|735417|735419|895327|895328|895329|895330|895331|895332|895333|895334|895335|895336|895337|895338|895339|895340|895341|895342|895343|895344|895345|895346|895347|895348|895349|895350|895351|895352|895353|895354|895355|895356|895357|895358|895359|895360|895361|895362|895363|895364|895365|895366|895367|895368|895369|895370|895371|895372|895373|895374|895375|895376|895377|895378|895379|895380|895381|895382|895383|896186|896187|896188|896189|896190|920221", "text": "Hypophosphatemic rickets, autosomal recessive, 2" }, { - "baseId": "28630|679748", + "upstreamId": "28630|679748", "text": "Coronary sclerosis, medial, of infancy" }, { - "baseId": 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+ "upstreamId": 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"text": "Naxos disease" }, { - "baseId": 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+ "upstreamId": 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"text": "Arrhythmogenic right ventricular cardiomyopathy, type 12" }, { - "baseId": "28640|496458", + "upstreamId": "28640|496458", "text": "Deafness, autosomal recessive 91" }, { - "baseId": "28641|28642|28643|28644|28645|28646|28647|28648|28649|28650|28651|28652|28653|28654|28655|132061|171270|195230|248654|248655|263003|291712|291719|291720|291722|291725|291729|293048|293052|293053|293054|296315|296322|296380|296386|406365|485692|485693|485730|485731|485732|485733|485743|485744|500971|576108|589049|889738|889739|891710", + "upstreamId": "28641|28642|28643|28644|28645|28646|28647|28648|28649|28650|28651|28652|28653|28654|28655|132061|171270|195230|248654|248655|263003|291712|291719|291720|291722|291725|291729|293048|293052|293053|293054|296315|296322|296380|296386|406365|485692|485693|485730|485731|485732|485733|485743|485744|500971|576108|589049|889738|889739|891710", "text": "Pituitary hormone deficiency, combined, 1" }, { - "baseId": 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"upstreamId": "28656|28657|28658|28659|28661|191630|195228|195229|255746|255747|255748|255749|255750|255753|255754|255755|265364|273730|325429|325430|325431|325447|325449|325450|325453|325454|325459|325460|325461|325465|325470|335076|335083|335093|335095|335106|335109|335110|335111|335119|335120|341526|341527|341530|341533|341534|341538|341539|341542|341544|341546|341548|341558|341559|341565|341568|341570|341571|341574|343041|343043|343044|343045|343046|343049|343051|343053|343054|374380|374384|377569|466456|466709|505400|513358|530118|530311|549733|567507|570300|570305|586789|589208|611824|620543|620544|620877|644688|644689|644690|644691|714925|714926|740203|822294|843875|843876|843877|843878|843879|875319|875320|875321|875322|875323|875324|875325|875326|875327|875328|875329|875330|875331|875332|875333|875334|875335|875336|875337|875338|875339|875340|875341|875342|875343|875344|875345|875346|875347|875348|875349|875350|875351|875352|876672|876673|927820|927821|937455|949405|949406|957766|971050", "text": "Glycogen storage disease IXb" }, { - "baseId": "28662|28663|187135|303227|303228|303230|303235|303239|303240|306521|306522|306526|306527|306530|306533|306534|306535|306537|306549|306550|306556|311386|311402|311403|311407|311415|311425|311426|311427|311430|311441|311549|311550|311552|311555|311556|311564|311567|311570|311583|311584|311585|311587|311594|311605|311610|311611|311612|311616|311620|369167|898258|898259|898260|898261|898262|898263|898264|898265|898266|898267|898268|898269|898270|898271|898272|898273|898274|898275|898276|898277|898278|898279|900382|924878|980926", + "upstreamId": "28662|28663|187135|303227|303228|303230|303235|303239|303240|306521|306522|306526|306527|306530|306533|306534|306535|306537|306549|306550|306556|311386|311402|311403|311407|311415|311425|311426|311427|311430|311441|311549|311550|311552|311555|311556|311564|311567|311570|311583|311584|311585|311587|311594|311605|311610|311611|311612|311616|311620|369167|898258|898259|898260|898261|898262|898263|898264|898265|898266|898267|898268|898269|898270|898271|898272|898273|898274|898275|898276|898277|898278|898279|900382|924878|980926", "text": "Deficiency of phosphoserine phosphatase" }, { - "baseId": "28664|28665|28666|28667|28668|28669|28670|255683|255684|255686|255687|255688|325084|325085|325088|334738|334745|334747|334751|341225|341228|341229|342736|342747|342749|375409|377545|466384|529996|530000|530422|530429|568095|570108|570252|570254|574030|612310|644597|644598|644599|644600|682739|682740|714876|791583|791584|843756|843757|875097|875098|875099|875100|875101|875102|875103|875104|875105|875106|876651|876652|927778|927779|927780|927781|937415|940358|949368|949369|957733", + "upstreamId": "28664|28665|28666|28667|28668|28669|28670|255683|255684|255686|255687|255688|325084|325085|325088|334738|334745|334747|334751|341225|341228|341229|342736|342747|342749|375409|377545|466384|529996|530000|530422|530429|568095|570108|570252|570254|574030|612310|644597|644598|644599|644600|682739|682740|714876|791583|791584|843756|843757|875097|875098|875099|875100|875101|875102|875103|875104|875105|875106|876651|876652|927778|927779|927780|927781|937415|940358|949368|949369|957733", "text": "Glycogen storage disease IXc" }, { - "baseId": "28671", + "upstreamId": "28671", "text": "Spina bifida, folate-sensitive, susceptibility to" }, { - "baseId": "28673", + "upstreamId": "28673", "text": "High density lipoprotein cholesterol level quantitative trait locus 9" }, { - "baseId": "28675|28676|38793|53745|53747|53749|198179|198180|221624|231648|239866|239867|239878|298816|298825|298827|298834|301293|301295|301306|301307|301316|301322|305675|305677|305680|305681|305682|305798|305800|395049|395050|455100|455310|455816|455820|521709|560550|614922|651458|651563|686792|831471|895241|895242|895243|895244|895245|895246|895247|895248|895249|895250|895251|895252|924233|933148", + "upstreamId": "28675|28676|38793|53745|53747|53749|198179|198180|221624|231648|239866|239867|239878|298816|298825|298827|298834|301293|301295|301306|301307|301316|301322|305675|305677|305680|305681|305682|305798|305800|395049|395050|455100|455310|455816|455820|521709|560550|614922|651458|651563|686792|831471|895241|895242|895243|895244|895245|895246|895247|895248|895249|895250|895251|895252|924233|933148", "text": "Dilated cardiomyopathy 1P" }, { - "baseId": "28676|38791|38792|53747|198626", + "upstreamId": "28676|38791|38792|53747|198626", "text": "Familial hypertrophic cardiomyopathy 18" }, { - "baseId": "28676|29190|52833|52938|55985|78119|78291|78555|78664|78844|178515|178537|178589|188540|188633|224352|224388|224414|224445|224464|224533|224556|243380|360883|372261|406276|419266|419289|485934|911626|984272", + "upstreamId": "28676|29190|52833|52938|55985|78119|78291|78555|78664|78844|178515|178537|178589|188540|188633|224352|224388|224414|224445|224464|224533|224556|243380|360883|372261|406276|419266|419289|485934|911626|984272", "text": "Sudden cardiac death" }, { - "baseId": "28676|51881|53163|53484|55325|55985|78578|178463|178534|178550|178554|178582|178585|178592|178613|178614|178665|189989|224197|224265|224279|224285|224288|224292|224293|224322|224335|224353|224356|224362|224387|224402|224437|224510|224527|224538|224555", + "upstreamId": "28676|51881|53163|53484|55325|55985|78578|178463|178534|178550|178554|178582|178585|178592|178613|178614|178665|189989|224197|224265|224279|224285|224288|224292|224293|224322|224335|224353|224356|224362|224387|224402|224437|224510|224527|224538|224555", "text": "Cardiac arrest" }, { - "baseId": "28678|28679|28680|28681|28682|28685|28686|28687|256854|433597|497509|800131|800132|982176|982177|982178|982179", + "upstreamId": "28678|28679|28680|28681|28682|28685|28686|28687|256854|433597|497509|800131|800132|982176|982177|982178|982179", "text": "Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency" }, { - "baseId": "28683|28684", + "upstreamId": "28683|28684", "text": "Hemolytic anemia, nonspherocytic, and neurologic deficits, due to glucose phosphate isomerase deficiency" }, { - "baseId": "28689|28690|48370|48371|137025|137026|137027|137028|137029|195644|246889|281017|281018|281027|281028|281030|281032|281038|281039|281042|281614|281615|281618|281621|281628|281633|281634|281638|282807|282808|282821|282823|282824|282825|282828|282829|282860|282862|283126|283134|283135|283139|283146|283147|365168|365345|365446|448401|490997|498786|557354|628208|628209|628210|628211|690657|746615|787021|788740|824351|824352|824353|864702|864703|864704|864706|864707|864708|864710|864711|864712|864714|864715|864717|864718|865199|865200|920152|922146|930643|952500|952501|964159", + "upstreamId": "28689|28690|48370|48371|137025|137026|137027|137028|137029|195644|246889|281017|281018|281027|281028|281030|281032|281038|281039|281042|281614|281615|281618|281621|281628|281633|281634|281638|282807|282808|282821|282823|282824|282825|282828|282829|282860|282862|283126|283134|283135|283139|283146|283147|365168|365345|365446|448401|490997|498786|557354|628208|628209|628210|628211|690657|746615|787021|788740|824351|824352|824353|864702|864703|864704|864706|864707|864708|864710|864711|864712|864714|864715|864717|864718|865199|865200|920152|922146|930643|952500|952501|964159", "text": "Congenital disorder of glycosylation type 1t" }, { - "baseId": "28691|28694|28696", + "upstreamId": "28691|28694|28696", "text": "OVARIAN CANCER, EPITHELIAL, SOMATIC" }, { - "baseId": "28691|28694|31371|31378", + "upstreamId": "28691|28694|31371|31378", "text": "Seborrheic keratosis" }, { - "baseId": "28691|28692|28694|40609|40610|54631", + "upstreamId": "28691|28692|28694|40609|40610|54631", "text": "Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi" }, { - "baseId": "28691|28692|28694|28696|40610|48303|173901|213941|213942|213943|578414|983285|983286|983287", + "upstreamId": "28691|28692|28694|28696|40610|48303|173901|213941|213942|213943|578414|983285|983286|983287", "text": "PIK3CA related overgrowth spectrum" }, { - "baseId": "28691|226759|411524|411525", + "upstreamId": "28691|226759|411524|411525", "text": "Rosette-forming glioneuronal tumor" }, { - "baseId": "28691|576074", + "upstreamId": "28691|576074", "text": "MACRODACTYLY, SOMATIC" }, { - "baseId": "28692", + "upstreamId": "28692", "text": "Macrodactyly of toe" }, { - "baseId": "28692|40609|40610|576074|576075|970762", + "upstreamId": "28692|40609|40610|576074|576075|970762", "text": "Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth" }, { - "baseId": "28692|28694|48302|48303|48304|48305|48407|48414|214867|363349|827717|855106", + "upstreamId": "28692|28694|48302|48303|48304|48305|48407|48414|214867|363349|827717|855106", "text": "Megalencephaly-capillary malformation-polymicrogyria syndrome" }, { - "baseId": "28699", + "upstreamId": "28699", "text": "ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-1 POLYMORPHISM" }, { - "baseId": "28700", + "upstreamId": "28700", "text": "ALKALINE PHOSPHATASE, PLACENTAL, ALLELE-3 POLYMORPHISM" }, { - "baseId": "28701|28702|28703|28704|28705|28706|28707|28708|28709|28709|28710|28710|28711|28711|28712|28713|28714|28715|28716|28717|28718|28720|28721|28722|28722|28723|186615|186616|186616|186617|186618|186619|186620|186621|186622|249724|357053|357054|357055|357056|357057|357058|357059|357060|357062|357063|357064|357065|357066|357067|357068|357069|357070|357071|357072|364747|421205|439921|486846|495070|508966|511220|535284|540714|540716|540720|540723|540745|540774|540783|540788|540789|540797|540799|540802|540807|540808|540810|540812|540817|540818|540822|540824|540833|540839|540861|540863|540865|540867|540868|540870|540877|540879|540880|540881|540884|540888|540890|540894|540896|540900|540900|540902|540939|540943|540945|540947|540957|540957|540959|540986|540990|541001|541009|541011|612078|623243|941693|952240|966785", + "upstreamId": "28701|28702|28703|28704|28705|28706|28707|28708|28709|28709|28710|28710|28711|28711|28712|28713|28714|28715|28716|28717|28718|28720|28721|28722|28722|28723|186615|186616|186616|186617|186618|186619|186620|186621|186622|249724|357053|357054|357055|357056|357057|357058|357059|357060|357062|357063|357064|357065|357066|357067|357068|357069|357070|357071|357072|364747|421205|439921|486846|495070|508966|511220|535284|540714|540716|540720|540723|540745|540774|540783|540788|540789|540797|540799|540802|540807|540808|540810|540812|540817|540818|540822|540824|540833|540839|540861|540863|540865|540867|540868|540870|540877|540879|540880|540881|540884|540888|540890|540894|540896|540900|540900|540902|540939|540943|540945|540947|540957|540957|540959|540986|540990|541001|541009|541011|612078|623243|941693|952240|966785", "text": "Infantile hypophosphatasia" }, { - "baseId": "28703|28709|28709|28710|28711|28714|28715|28716|28721|28722|28722|28723|186616|540900|540957|621069", + "upstreamId": "28703|28709|28709|28710|28711|28714|28715|28716|28721|28722|28722|28723|186616|540900|540957|621069", "text": "Childhood hypophosphatasia" }, { - "baseId": "28703|28709|28709|28710|28710|28711|28711|28712|28714|28716|28718|28722|186616|186617|540900|540957|621068|621069|818168|918599|918600|918605|920132|941693|964143|964144|964145|964146|964147|964148|964645|980301", + "upstreamId": "28703|28709|28709|28710|28710|28711|28711|28712|28714|28716|28718|28722|186616|186617|540900|540957|621068|621069|818168|918599|918600|918605|920132|941693|964143|964144|964145|964146|964147|964148|964645|980301", "text": "Adult hypophosphatasia" }, { - "baseId": "28703|28706|28709|28710|28711|28712|28713|28714|28716|28718|28722|186619|191159|194838|194840|195584|249721|249722|249723|249727|272484|273374|274268|278888|278891|278892|278895|278903|278904|278909|278910|278914|278915|278918|278919|278920|279040|279041|279048|279050|279053|279054|279055|279066|280337|280339|280343|280349|280352|280353|280354|280356|280362|280378|280385|280390|280393|280395|357053|357058|357070|364857|417652|421205|442712|486846|540880|540890|540957|576481|621068|621069|621070|732099|732100|746101|761575|780524|780528|799156|823326|863513|863514|863515|863516|863517|863518|863519|863520|863521|863522|863523|863524|863525|863526|863527|863528|863529|916813|963248|964143|972538|977477|977478|977488|977491|977493|977494|977495|983942", + "upstreamId": "28703|28706|28709|28710|28711|28712|28713|28714|28716|28718|28722|186619|191159|194838|194840|195584|249721|249722|249723|249727|272484|273374|274268|278888|278891|278892|278895|278903|278904|278909|278910|278914|278915|278918|278919|278920|279040|279041|279048|279050|279053|279054|279055|279066|280337|280339|280343|280349|280352|280353|280354|280356|280362|280378|280385|280390|280393|280395|357053|357058|357070|364857|417652|421205|442712|486846|540880|540890|540957|576481|621068|621069|621070|732099|732100|746101|761575|780524|780528|799156|823326|863513|863514|863515|863516|863517|863518|863519|863520|863521|863522|863523|863524|863525|863526|863527|863528|863529|916813|963248|964143|972538|977477|977478|977488|977491|977493|977494|977495|983942", "text": "Hypophosphatasia" }, { - "baseId": "28709|28716|28719|28721", + "upstreamId": "28709|28716|28719|28721", "text": "Odontohypophosphatasia" }, { - "baseId": "28717|28718", + "upstreamId": "28717|28718", "text": "Hypophosphatasia, perinatal lethal" }, { - "baseId": "28724", + "upstreamId": "28724", "text": "ACID PHOSPHATASE 1, SOLUBLE, A/B POLYMORPHISM OF" }, { - "baseId": "28725|28726|28727|28729|28730|28733|28734|28736|189023|191497|192083|193434|195243|252953|252954|252955|252956|252957|252958|252959|265375|265376|267188|303476|303483|303485|303486|306890|306891|306901|306903|306906|311786|311788|311789|311817|311825|311827|311828|361407|369290|369987|369991|371396|493027|578462|584498|585376|588060|589154|589239|623143|898447|898448|898449|898450|898451|898452|898453|898454|898455|898456|898458|898460|898461|898462|898463|898464|898465|898466|898467|900408|900409|970221", + "upstreamId": "28725|28726|28727|28729|28730|28733|28734|28736|189023|191497|192083|193434|195243|252953|252954|252955|252956|252957|252958|252959|265375|265376|267188|303476|303483|303485|303486|306890|306891|306901|306903|306906|311786|311788|311789|311817|311825|311827|311828|361407|369290|369987|369991|371396|493027|578462|584498|585376|588060|589154|589239|623143|898447|898448|898449|898450|898451|898452|898453|898454|898455|898456|898458|898460|898461|898462|898463|898464|898465|898466|898467|900408|900409|970221", "text": "Progressive familial intrahepatic cholestasis 3" }, { - "baseId": "28726|28729|28730|28731|28732|28736|48440|193434|194305|361407|578462|590360", + "upstreamId": "28726|28729|28730|28731|28732|28736|48440|193434|194305|361407|578462|590360", "text": "Low phospholipid associated cholelithiasis" }, { - "baseId": "28736", + "upstreamId": "28736", "text": "ABCB4-related disorders" }, { - "baseId": "28737", + "upstreamId": "28737", "text": "Colchicine resistance" }, { - "baseId": "28740", + "upstreamId": "28740", "text": "Hyperapobetalipoproteinemia, susceptibility to" }, { - "baseId": "28741|28742", + "upstreamId": "28741|28742", "text": "Zellweger syndrome 2" }, { - "baseId": "28743|98744|98745|98745|135331|143213|143214|177124|253177|266584|271736|272407|272932|275181|275390|305885|305892|305893|305894|305899|305900|305911|305913|305914|305915|305919|305922|305925|305926|305927|305931|309956|309959|309971|309973|309975|309977|309979|309981|309982|309983|315236|315237|315239|315240|315241|315249|315251|315255|315261|315272|315277|315278|315282|315282|315286|315303|315304|315305|315314|315318|315325|315328|315343|315355|315357|315360|357639|487406|489384|492146|492372|494110|544462|544464|544469|544757|544760|544760|544763|544802|544857|544860|544862|544864|544868|544868|563082|584201|586608|587303|587303|589226|637402|637403|637404|637405|637406|711640|723187|751248|766891|766892|766893|766894|783156|835051|835052|835053|835054|835055|900052|900053|900054|900055|900056|900057|900058|900059|900060|900061|900062|900063|900064|900065|900066|900067|900068|900069|900070|900071|900072|900073|900074|900075|900076|900077|900078|900079|900080|900081|900082|900083|900084|900085|900086|934420|934421|946183|955500|955501|955502|955503", + "upstreamId": "28743|98744|98745|98745|135331|143213|143214|177124|253177|266584|271736|272407|272932|275181|275390|305885|305892|305893|305894|305899|305900|305911|305913|305914|305915|305919|305922|305925|305926|305927|305931|309956|309959|309971|309973|309975|309977|309979|309981|309982|309983|315236|315237|315239|315240|315241|315249|315251|315255|315261|315272|315277|315278|315282|315282|315286|315303|315304|315305|315314|315318|315325|315328|315343|315355|315357|315360|357639|487406|489384|492146|492372|494110|544462|544464|544469|544757|544760|544760|544763|544802|544857|544860|544862|544864|544868|544868|563082|584201|586608|587303|587303|589226|637402|637403|637404|637405|637406|711640|723187|751248|766891|766892|766893|766894|783156|835051|835052|835053|835054|835055|900052|900053|900054|900055|900056|900057|900058|900059|900060|900061|900062|900063|900064|900065|900066|900067|900068|900069|900070|900071|900072|900073|900074|900075|900076|900077|900078|900079|900080|900081|900082|900083|900084|900085|900086|934420|934421|946183|955500|955501|955502|955503", "text": "Peroxisome biogenesis disorder 5a (zellweger)" }, { - "baseId": "28743|28744|98745|143215|172169|271736|315282|357639|544462|544464|544469|544757|544760|544763|544802|544857|544860|544862|544864|544868|587303", + "upstreamId": "28743|28744|98745|143215|172169|271736|315282|357639|544462|544464|544469|544757|544760|544763|544802|544857|544860|544862|544864|544868|587303", "text": "Peroxisome biogenesis disorder 5B" }, { - "baseId": "28747|28748|28749|28750|28751|28752|28753|28754|28755|28756|28757|28759|28760|28761|28762|213598|253807|253808|253809|253810|253811|253813|253814|253815|264466|265681|310610|310612|310613|310615|310617|310618|310619|310623|315850|315853|315856|315857|315859|315860|321876|321886|321888|321894|321895|321898|321901|322582|322585|322593|322594|322595|384626|429125|460114|460116|460124|460126|460226|460230|460232|460248|460250|460482|460486|460488|460498|460504|460936|493972|511872|513595|525338|525342|525343|525345|525349|525349|525442|525444|525518|525531|525536|525775|525779|525781|539416|552144|563901|563907|563908|563922|564712|564716|564729|566441|569751|569754|569765|589284|612289|612290|639103|639104|639105|639106|639107|639108|639109|639110|639111|639112|639113|639114|639115|639116|639117|639118|639119|639120|639121|639122|639123|639123|639124|712449|712450|712451|712452|712453|712454|724044|724045|737568|737569|737570|767882|767883|767884|767885|783669|790973|790974|790975|790976|820232|837165|837166|837167|837168|837169|837170|837171|837172|837173|837174|837175|837176|837177|837178|837179|837180|866085|866086|866087|866088|866089|866090|866091|866092|866093|866094|866095|866096|866097|866098|866099|868486|903569|917790|925902|925903|925904|925905|925906|925907|925908|925909|935142|935143|935144|935145|935146|947017|947018|947019|947020|947021|947022|947023|947024|947025|947026|956146|956147|956148|956149|961861|964344", + "upstreamId": "28747|28748|28749|28750|28751|28752|28753|28754|28755|28756|28757|28759|28760|28761|28762|213598|253807|253808|253809|253810|253811|253813|253814|253815|264466|265681|310610|310612|310613|310615|310617|310618|310619|310623|315850|315853|315856|315857|315859|315860|321876|321886|321888|321894|321895|321898|321901|322582|322585|322593|322594|322595|384626|429125|460114|460116|460124|460126|460226|460230|460232|460248|460250|460482|460486|460488|460498|460504|460936|493972|511872|513595|525338|525342|525343|525345|525349|525349|525442|525444|525518|525531|525536|525775|525779|525781|539416|552144|563901|563907|563908|563922|564712|564716|564729|566441|569751|569754|569765|589284|612289|612290|639103|639104|639105|639106|639107|639108|639109|639110|639111|639112|639113|639114|639115|639116|639117|639118|639119|639120|639121|639122|639123|639123|639124|712449|712450|712451|712452|712453|712454|724044|724045|737568|737569|737570|767882|767883|767884|767885|783669|790973|790974|790975|790976|820232|837165|837166|837167|837168|837169|837170|837171|837172|837173|837174|837175|837176|837177|837178|837179|837180|866085|866086|866087|866088|866089|866090|866091|866092|866093|866094|866095|866096|866097|866098|866099|868486|903569|917790|925902|925903|925904|925905|925906|925907|925908|925909|935142|935143|935144|935145|935146|947017|947018|947019|947020|947021|947022|947023|947024|947025|947026|956146|956147|956148|956149|961861|964344", "text": "Familial hemophagocytic lymphohistiocytosis 2" }, { - "baseId": "28757", + "upstreamId": "28757", "text": "Hemophagocytic lymphohistiocytosis, familial, 2, susceptibility to" }, { - "baseId": "28763|28764|28765", + "upstreamId": "28763|28764|28765", "text": "PEPTIDE TRANSPORTER PSF2 POLYMORPHISM" }, { - "baseId": "28768|28769", + "upstreamId": "28768|28769", "text": "PEPTIDE TRANSPORTER PSF1 POLYMORPHISM" }, { - "baseId": "28770", + "upstreamId": "28770", "text": "TAP1 deficiency, somatic" }, { - "baseId": "28772", + "upstreamId": "28772", "text": "PRB3S(CYS)" }, { - "baseId": "28773", + "upstreamId": "28773", "text": "PRB3M(NULL)" }, { - "baseId": "28774", + "upstreamId": "28774", "text": "Coronary artery spasm 2, susceptibility to" }, { - "baseId": "28774|28775|28776", + "upstreamId": "28774|28775|28776", "text": "Enzyme activity finding" }, { - "baseId": "28775", + "upstreamId": "28775", "text": "Microvascular complications of diabetes 5" }, { - "baseId": "28777|28778|28779|28780", + "upstreamId": "28777|28778|28779|28780", "text": "Brachydactyly type E2" }, { - "baseId": "28781|28782|28786|28787|75363|265484|290731|290738|290748|290753|290757|290758|290763|290766|291668|291673|291687|291689|294874|294878|294882|294883|294894|294895|294898|294901|294912|295258|295260|295270|295275|295276|295277|744066|748295|889129|889130|889131|889132|889133|889134|889135|889136|889137|889138|889139|889140|889141|889142|891663|959509", + "upstreamId": "28781|28782|28786|28787|75363|265484|290731|290738|290748|290753|290757|290758|290763|290766|291668|291673|291687|291689|294874|294878|294882|294883|294894|294895|294898|294901|294912|295258|295260|295270|295275|295276|295277|744066|748295|889129|889130|889131|889132|889133|889134|889135|889136|889137|889138|889139|889140|889141|889142|891663|959509", "text": "Metaphyseal chondrodysplasia, Jansen type" }, { - "baseId": "28783|28784|28785|28789|28790|75363|265484|290731|290738|290748|290753|290757|290758|290763|290766|291668|291673|291687|291689|294874|294878|294882|294883|294894|294895|294898|294901|294912|295258|295260|295270|295275|295276|295277|744066|748295|889129|889130|889131|889132|889133|889134|889135|889136|889137|889138|889139|889140|889141|889142|891663", + "upstreamId": "28783|28784|28785|28789|28790|75363|265484|290731|290738|290748|290753|290757|290758|290763|290766|291668|291673|291687|291689|294874|294878|294882|294883|294894|294895|294898|294901|294912|295258|295260|295270|295275|295276|295277|744066|748295|889129|889130|889131|889132|889133|889134|889135|889136|889137|889138|889139|889140|889141|889142|891663", "text": "Chondrodysplasia Blomstrand type" }, { - "baseId": "28788|536213|619847", + "upstreamId": "28788|536213|619847", "text": "Eiken skeletal dysplasia" }, { - "baseId": "28791|28792|28793|513537|583090", + "upstreamId": "28791|28792|28793|513537|583090", "text": "Failure of tooth eruption, primary" }, { - "baseId": "28794", + "upstreamId": "28794", "text": "VON HIPPEL-LINDAU SYNDROME, MODIFIER OF" }, { - "baseId": "28794", + "upstreamId": "28794", "text": "Multiple myeloma, translocation 11,14 type" }, { - "baseId": "28795|28797", + "upstreamId": "28795|28797", "text": "Hypoparathyroidism, familial isolated 1" }, { - "baseId": "28798|50291|213769|213770|213771|213772", + "upstreamId": "28798|50291|213769|213770|213771|213772", "text": "Primary hyperparathyroidism" }, { - "baseId": "28802|45439|136364", + "upstreamId": "28802|45439|136364", "text": "Tropical calcific pancreatitis" }, { - "baseId": "28806|28807|28808|28809|28810|28811|28812|28813|28814|28815|28816|28817|28818|28819|28820|165743|254940|320515|320518|320519|320521|320522|320523|320534|329297|329298|329316|329317|329324|329327|329328|329335|329337|329338|329342|335880|335881|335898|335903|335905|335917|335921|337835|337837|337838|337839|337844|337871|337877|337880|362221|424223|464201|653888|871851|871852|871853|871854|871855|871856|871857|871858|871859|871860|871861|871862|871863|871864|871865|871866|871867|871868|964075", + "upstreamId": "28806|28807|28808|28809|28810|28811|28812|28813|28814|28815|28816|28817|28818|28819|28820|165743|254940|320515|320518|320519|320521|320522|320523|320534|329297|329298|329316|329317|329324|329327|329328|329335|329337|329338|329342|335880|335881|335898|335903|335905|335917|335921|337835|337837|337838|337839|337844|337871|337877|337880|362221|424223|464201|653888|871851|871852|871853|871854|871855|871856|871857|871858|871859|871860|871861|871862|871863|871864|871865|871866|871867|871868|964075", "text": "Tooth agenesis, selective, 3" }, { - "baseId": "28809|28814|53352|231292|320523|329317|335905|528503|568867|642356|642357|642358|754034|841371|927031|948538", + "upstreamId": "28809|28814|53352|231292|320523|329317|335905|528503|568867|642356|642357|642358|754034|841371|927031|948538", "text": "Partial congenital absence of teeth" }, { - "baseId": "28821", + "upstreamId": "28821", "text": "PAX8 POLYMORPHISM" }, { - "baseId": "28821|28822|28823|28824|28825|28826|28827|28828|177196|250091|281649|281651|281655|281656|281664|281665|281670|281672|281677|281678|282303|282304|282305|282306|282309|282310|282324|282325|282326|282328|282329|282330|282332|283714|283718|283719|283723|283725|283726|283729|283730|283731|283927|283928|283929|283945|283946|283955|283968|283973|283974|283980|283981|283983|283992|284003|427874|685834|690708|690709|690710|690712|695070|719196|732722|762164|790032|790033|790034|790035|861076|880884|880885|880886|880887|880888|880889|880890|880891|880892|880893|880894|880895|880896|880897|880898|880899|880900|880901|880902|880903|880904|880905|880906|880907|880908|880909|880910|880911|880912|880913|880914|880915|880916|882786|882787|903693|903694", + "upstreamId": "28821|28822|28823|28824|28825|28826|28827|28828|177196|250091|281649|281651|281655|281656|281664|281665|281670|281672|281677|281678|282303|282304|282305|282306|282309|282310|282324|282325|282326|282328|282329|282330|282332|283714|283718|283719|283723|283725|283726|283729|283730|283731|283927|283928|283929|283945|283946|283955|283968|283973|283974|283980|283981|283983|283992|284003|427874|685834|690708|690709|690710|690712|695070|719196|732722|762164|790032|790033|790034|790035|861076|880884|880885|880886|880887|880888|880889|880890|880891|880892|880893|880894|880895|880896|880897|880898|880899|880900|880901|880902|880903|880904|880905|880906|880907|880908|880909|880910|880911|880912|880913|880914|880915|880916|882786|882787|903693|903694", "text": "Hypothyroidism, congenital, nongoitrous, 2" }, { - "baseId": "28830|28831", + "upstreamId": "28830|28831", "text": "Diabetes mellitus, ketosis-prone, susceptibility to" }, { - "baseId": "28832|28833|432299", + "upstreamId": "28832|28833|432299", "text": "Maturity-onset diabetes of the young type 9" }, { - "baseId": "28834|28836|28837|28838|28839|28840|28841|28842|100286|100287|166076|166077|166077|166080|166081|167527|167528|460453|524875|525106|569426|623301|650386|650387|695464|836511|836512|836512|852537|903495|962724|962725|962726|962727|962833", + "upstreamId": "28834|28836|28837|28838|28839|28840|28841|28842|100286|100287|166076|166077|166077|166080|166081|167527|167528|460453|524875|525106|569426|623301|650386|650387|695464|836511|836512|836512|852537|903495|962724|962725|962726|962727|962833", "text": "Renal coloboma syndrome" }, { - "baseId": "28844", + "upstreamId": "28844", "text": "Papillorenal syndrome with macular abnormalities" }, { - "baseId": "28845", + "upstreamId": "28845", "text": "Colonic adenoma recurrence, reduced risk of" }, { - "baseId": "28850|38776|38777|38778|38779|54363", + "upstreamId": "28850|38776|38777|38778|38779|54363", "text": "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia" }, { - "baseId": "28850|28891|28899|28902|28905|29203|38777|171928|171929|171930|363045|363149|363150|363151|363152|363582|615782|615783", + "upstreamId": "28850|28891|28899|28902|28905|29203|38777|171928|171929|171930|363045|363149|363150|363151|363152|363582|615782|615783", "text": "Hematologic neoplasm" }, { - "baseId": "28851", + "upstreamId": "28851", "text": "Tetraamelia, autosomal recessive" }, { - "baseId": 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+ "upstreamId": "28852|28860|28860|28861|28863|28865|28865|28867|28867|28869|28870|28870|28871|28872|46890|141188|141189|191624|191624|191625|191625|191626|191626|207479|207480|236899|236899|252842|252844|252845|252845|252846|252847|252847|252848|252848|252849|252849|252850|252850|252854|252854|252855|252856|252856|252858|252860|252860|252864|252864|252866|252866|252868|252872|252873|252874|252875|252876|252876|252880|252881|259861|259861|259864|259864|266255|267367|267367|267807|267829|268321|268762|269149|269149|272005|272221|272371|272807|273308|273308|302938|302939|302940|302941|302943|302944|302947|302952|302961|302966|302968|302970|302973|302977|302978|302982|302983|302990|302992|302994|303006|303006|303007|303011|303011|303020|303020|303022|303022|303024|303026|303029|303029|303033|303034|303040|303041|303046|303046|303047|303048|303049|303049|303053|306259|306260|306264|306265|306266|306267|306268|306269|306271|306272|306273|306274|306275|306275|306276|306287|306290|306290|306294|310985|310988|310989|311012|311032|311033|311042|311058|311061|311068|311070|311071|311099|311107|311108|311109|311112|311114|311133|311135|311142|311143|311146|311148|311149|311149|311156|311157|311157|311164|311245|311246|311248|311252|311257|311259|311260|311261|311262|311264|311265|311266|311267|311268|311269|311272|311274|311277|311278|311279|311279|311280|311280|311282|311283|311284|311285|311286|311286|311287|311288|311288|311289|311290|311295|353817|353818|362226|363692|363692|369448|428713|428715|428717|456714|456720|456727|456728|456731|456734|457358|457360|457364|457781|502039|508730|514283|522675|522678|522680|522683|522925|522929|523100|523102|523306|523316|561052|561611|561615|561618|561623|561953|564313|566860|566863|566874|587106|615920|636154|636155|636156|636157|636158|636159|636160|636161|636162|636163|636164|636165|682808|692237|692238|692239|700063|700067|700070|700071|722524|750640|750642|750647|766287|766289|782863|782867|790721|790722|802088|821941|821942|821943|821944|821945|821946|821947|833602|833603|833604|833605|833606|833607|833608|833609|833610|833611|833612|833613|833614|833615|852088|852090|898063|898064|898065|898066|898067|898068|898069|898070|898071|898072|898073|898074|898075|898076|898077|898078|898079|898080|898081|898082|898083|898084|898085|898086|898087|898088|898089|898090|898091|898092|898093|898094|898094|898095|898096|898097|898098|898099|898100|898101|898102|898103|898104|898105|898106|898107|900361|900362|900363|900364|924851|924852|924853|924854|924855|933889|933890|945636|955159|961002|965968|965969|966059", "text": "Greig cephalopolysyndactyly syndrome" }, { - "baseId": 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+ "upstreamId": "28853|28854|28857|28859|28860|28860|28862|28865|28867|28868|28870|46866|46867|46868|46869|46870|46871|46872|46873|46874|46875|46876|46877|46878|46879|46880|46881|46882|46883|46884|46885|46886|46887|46888|46889|46890|46890|141188|141189|191624|191624|191625|191625|191626|191626|207479|207480|236899|236899|252842|252844|252845|252845|252846|252847|252847|252848|252848|252849|252849|252850|252850|252854|252854|252855|252856|252856|252858|252860|252860|252864|252864|252866|252866|252868|252872|252873|252874|252875|252876|252876|252880|252881|259861|259861|259864|259864|266255|267367|267367|267807|267829|268321|268762|269149|269149|272005|272221|272371|272807|273308|273308|302938|302939|302940|302941|302943|302944|302947|302952|302961|302966|302968|302970|302973|302977|302978|302982|302983|302990|302992|302994|303006|303006|303007|303011|303011|303020|303020|303022|303022|303024|303026|303029|303029|303033|303034|303040|303041|303046|303046|303047|303048|303049|303049|303053|306259|306260|306264|306265|306266|306267|306268|306269|306271|306272|306273|306274|306275|306275|306276|306287|306290|306290|306294|310985|310988|310989|311012|311032|311033|311042|311058|311061|311068|311070|311071|311099|311107|311108|311109|311112|311114|311133|311135|311142|311143|311146|311148|311149|311149|311156|311157|311157|311164|311245|311246|311248|311252|311257|311259|311260|311261|311262|311264|311265|311266|311267|311268|311269|311272|311274|311277|311278|311279|311279|311280|311280|311282|311283|311284|311285|311286|311286|311287|311288|311288|311289|311290|311295|353817|353818|363692|369448|428713|428715|456714|456720|456727|456728|456731|456734|457358|457360|457364|457781|502039|522675|522678|522680|522683|522925|522929|523100|523102|523306|523316|561052|561611|561615|561618|561623|561953|564313|566860|566863|566874|587106|615920|636154|636155|636156|636157|636158|636159|636160|636161|636162|636163|636164|636165|692237|692238|692239|700063|700067|700070|700071|722524|750640|750642|750647|766287|766289|782863|782867|821941|821942|821943|821944|821945|821946|821947|833602|833603|833604|833605|833606|833607|833608|833609|833610|833611|833612|833613|833614|833615|852088|852090|898070|898076|898079|898083|898085|898087|898089|898094|898099|898102|898103|898104|898106|900362|900363|919105|919106|924851|924852|924853|924854|924855|933889|933890|945636|955159", "text": "Pallister-Hall syndrome" }, { - "baseId": "28856|28865|259861|259864|428715", + "upstreamId": "28856|28865|259861|259864|428715", "text": "Preaxial polydactyly 4" }, { - "baseId": "28858|28859|28860|48110", + "upstreamId": "28858|28859|28860|48110", "text": "Postaxial polydactyly, type A1/B" }, { - "baseId": "28864", + "upstreamId": "28864", "text": "Greig cephalopolysyndactyly syndrome, severe" }, { - "baseId": "28866", + "upstreamId": "28866", "text": "Postaxial polydactyly B" }, { - "baseId": "28873|28874|28875|45756|45756|45757|45758|45759|45759|101169|101170|101171|101172|101173|101173|190474|191228|191228|191383|191383|191385|191386|191386|191387|191387|191388|191390|191390|191391|191391|191392|191392|191393|191393|191394|191394|195689|195690|195977|195977|223606|223606|237012|250110|250111|250117|250117|250118|250119|250120|250120|250130|250130|250131|250131|250132|250133|250133|250135|250138|250138|266450|266450|266537|266537|266975|269631|269632|271804|271804|281725|281730|281733|281734|281736|281743|281745|281748|281760|282376|282377|282377|282378|282379|282380|282381|282381|282384|282384|282385|282386|282388|282390|282392|283816|283817|283817|283821|283821|283827|283837|283844|283844|283857|283860|283861|283872|283873|283873|283880|283883|283892|283894|283916|283938|283940|283949|284074|284081|284081|284084|284087|284088|284088|284092|284116|284117|284118|284120|284123|284132|284138|284143|284174|284176|361163|361164|361165|405286|442913|448555|448555|448667|448763|489506|511313|516361|558707|559192|559194|587219|587220|589597|628420|628420|628421|628422|628423|690714|690715|690717|690718|690719|690722|690724|690725|690728|690728|690729|696993|696994|696995|696997|696997|707697|707699|707702|719215|719216|719218|746754|778849|780822|801784|824722|824723|824724|880961|880962|880963|880964|880965|880966|880967|880968|880969|880970|880971|880972|880973|880974|880975|880976|880977|880978|880979|880980|880981|880982|880983|880984|880985|880986|880987|880988|880989|880990|880991|880992|882791|918668|918669|922230|942218|962151", + "upstreamId": "28873|28874|28875|45756|45756|45757|45758|45759|45759|101169|101170|101171|101172|101173|101173|190474|191228|191228|191383|191383|191385|191386|191386|191387|191387|191388|191390|191390|191391|191391|191392|191392|191393|191393|191394|191394|195689|195690|195977|195977|223606|223606|237012|250110|250111|250117|250117|250118|250119|250120|250120|250130|250130|250131|250131|250132|250133|250133|250135|250138|250138|266450|266450|266537|266537|266975|269631|269632|271804|271804|281725|281730|281733|281734|281736|281743|281745|281748|281760|282376|282377|282377|282378|282379|282380|282381|282381|282384|282384|282385|282386|282388|282390|282392|283816|283817|283817|283821|283821|283827|283837|283844|283844|283857|283860|283861|283872|283873|283873|283880|283883|283892|283894|283916|283938|283940|283949|284074|284081|284081|284084|284087|284088|284088|284092|284116|284117|284118|284120|284123|284132|284138|284143|284174|284176|361163|361164|361165|405286|442913|448555|448555|448667|448763|489506|511313|516361|558707|559192|559194|587219|587220|589597|628420|628420|628421|628422|628423|690714|690715|690717|690718|690719|690722|690724|690725|690728|690728|690729|696993|696994|696995|696997|696997|707697|707699|707702|719215|719216|719218|746754|778849|780822|801784|824722|824723|824724|880961|880962|880963|880964|880965|880966|880967|880968|880969|880970|880971|880972|880973|880974|880975|880976|880977|880978|880979|880980|880981|880982|880983|880984|880985|880986|880987|880988|880989|880990|880991|880992|882791|918668|918669|922230|942218|962151", "text": "Holoprosencephaly 9" }, { - "baseId": "28876|28877|28878|28879|28880|28881|38771|38772|38773|46945|46946|46947|404807|415302|615814", + "upstreamId": "28876|28877|28878|28879|28880|28881|38771|38772|38773|46945|46946|46947|404807|415302|615814", "text": "Deafness with labyrinthine aplasia microtia and microdontia (LAMM)" }, { - "baseId": "28891", + "upstreamId": "28891", "text": "Mast cell leukemia" }, { - "baseId": "28891|28902|45973|432379|432380", + "upstreamId": "28891|28902|45973|432379|432380", "text": "Dysgerminoma" }, { - "baseId": "28891", + "upstreamId": "28891", "text": "MAST CELL LEUKEMIA, SOMATIC" }, { - "baseId": "28891", + "upstreamId": "28891", "text": "MASTOCYTOSIS WITH ASSOCIATED HEMATOLOGIC DISORDER, SOMATIC" }, { - "baseId": "28891|28892", + "upstreamId": "28891|28892", "text": "MASTOCYTOSIS, SYSTEMIC, SOMATIC" }, { - "baseId": "28891|28904|536139|536140", + "upstreamId": "28891|28904|536139|536140", "text": "Cutaneous mastocytosis" }, { - "baseId": "28897", + "upstreamId": "28897", "text": "Piebaldism with sensorineural deafness" }, { - "baseId": "28899", + "upstreamId": "28899", "text": "MASTOCYTOSIS, CUTANEOUS AND SYSTEMIC, SOMATIC" }, { - "baseId": "28901|50038|50039|50040|50043|50045|138360|138368|171098|221466|221467|221469|221471|221472|221473|221474|227193|239444|239444|239458|239464|239467|239471|239474|239477|239482|239488|239491|239495|239497|239498|251500|251502|251504|251505|293581|293582|293587|293588|293595|293596|293612|295032|295038|295039|295040|298678|298679|298680|298681|298683|298688|298703|298704|298711|394068|394077|394098|394105|394222|394301|394334|394336|394339|394469|394518|394541|453445|453508|453809|453899|520120|520401|562207|563999|829329|890761|890762|890763|890764|890765|890766|890767|890768|890769|890770|890771|890772|890773|890774|890775|890776|890777|890778|890779|890780|890781|890782|890783|891800", + "upstreamId": "28901|50038|50039|50040|50043|50045|138360|138368|171098|221466|221467|221469|221471|221472|221473|221474|227193|239444|239444|239458|239464|239467|239471|239474|239477|239482|239488|239491|239495|239497|239498|251500|251502|251504|251505|293581|293582|293587|293588|293595|293596|293612|295032|295038|295039|295040|298678|298679|298680|298681|298683|298688|298703|298704|298711|394068|394077|394098|394105|394222|394301|394334|394336|394339|394469|394518|394541|453445|453508|453809|453899|520120|520401|562207|563999|829329|890761|890762|890763|890764|890765|890766|890767|890768|890769|890770|890771|890772|890773|890774|890775|890776|890777|890778|890779|890780|890781|890782|890783|891800", "text": "Mastocytosis" }, { - "baseId": "28902", + "upstreamId": "28902", "text": "Germ cell tumor of testis" }, { - "baseId": "28904|28905|50043|227193|362792", + "upstreamId": "28904|28905|50043|227193|362792", "text": "Gastrointestinal stromal tumor, familial" }, { - "baseId": "28904|179419|362782|362786|362788|362792|362798|362799|362804|362808", + "upstreamId": "28904|179419|362782|362786|362788|362792|362798|362799|362804|362808", "text": "Thymoma" }, { - "baseId": "28906|28907|28908|28909|28910|28911|38770|101163|101164|101167|101168|141091|141092|141093|141094|141095|169046|169048|169049|169050|169051|169052|169053|169054|169055|169056|169057|169058|169059|169060|169061|169062|177146|177278|177721|187399|187400|187401|187402|187403|187404|187405|187407|187408|187409|187410|187411|187412|187413|187415|190470|190472|202797|202800|202803|202809|202813|202817|202819|202825|202836|202839|202840|202841|202843|208087|225868|247389|265619|353907|354156|360091|360196|364043|373077|373079|373082|374207|374216|376029|376043|409114|413374|414698|414699|414700|429553|429554|431922|445223|446889|462969|463705|463706|463720|463723|463725|463729|464033|464186|464197|486756|486757|486758|504533|505050|528142|528144|528484|528486|528489|538022|538023|552174|566406|567998|568018|568019|568854|568860|572775|611419|642342|642343|642344|642345|642346|642347|642348|693473|693475|784711|784712|784713|791397|791398|798673|798674|820618|822095|822096|822097|822098|841351|841352|841353|841354|841355|841356|841357|841358|841359|841360|860100|861579|904256|917786|919524|919525|927020|927021|927022|927023|927024|927025|936596|936597|948530|948531|948532|948533|957200|961317|961620|964414|965993|965994|967280|971516|976663|983762", + "upstreamId": "28906|28907|28908|28909|28910|28911|38770|101163|101164|101167|101168|141091|141092|141093|141094|141095|169046|169048|169049|169050|169051|169052|169053|169054|169055|169056|169057|169058|169059|169060|169061|169062|177146|177278|177721|187399|187400|187401|187402|187403|187404|187405|187407|187408|187409|187410|187411|187412|187413|187415|190470|190472|202797|202800|202803|202809|202813|202817|202819|202825|202836|202839|202840|202841|202843|208087|225868|247389|265619|353907|354156|360091|360196|364043|373077|373079|373082|374207|374216|376029|376043|409114|413374|414698|414699|414700|429553|429554|431922|445223|446889|462969|463705|463706|463720|463723|463725|463729|464033|464186|464197|486756|486757|486758|504533|505050|528142|528144|528484|528486|528489|538022|538023|552174|566406|567998|568018|568019|568854|568860|572775|611419|642342|642343|642344|642345|642346|642347|642348|693473|693475|784711|784712|784713|791397|791398|798673|798674|820618|822095|822096|822097|822098|841351|841352|841353|841354|841355|841356|841357|841358|841359|841360|860100|861579|904256|917786|919524|919525|927020|927021|927022|927023|927024|927025|936596|936597|948530|948531|948532|948533|957200|961317|961620|964414|965993|965994|967280|971516|976663|983762", "text": "Rett syndrome, congenital variant" }, { - "baseId": "28912|28913", + "upstreamId": "28912|28913", "text": "ERBB2 POLYMORPHISM" }, { - "baseId": "28919", + "upstreamId": "28919", "text": "Ovarian Adenocarcinoma" }, { - "baseId": "28923|28924|31368|31370|31371|31372|31378|31381|50063|182676|192091|363005|363079|363127|363577|363607|363608", + "upstreamId": "28923|28924|31368|31370|31371|31372|31378|31381|50063|182676|192091|363005|363079|363127|363577|363607|363608", "text": "Carcinoma" }, { - "baseId": "28924|28926|192091|362947|363005|363006|363007|363008|363009", + "upstreamId": "28924|28926|192091|362947|363005|363006|363007|363008|363009", "text": "Kidney Carcinoma" }, { - "baseId": "28927|28928|28929", + "upstreamId": "28927|28928|28929", "text": "Childhood hepatocellular carcinoma" }, { - "baseId": "28930", + "upstreamId": "28930", "text": "Autism 9" }, { - "baseId": "28931|28932|28933|28934|28935|28936|28937|426707|426708|426709|426710|426711|426712|536234|683222|683223|805247|818178|963502|965958", + "upstreamId": "28931|28932|28933|28934|28935|28936|28937|426707|426708|426709|426710|426711|426712|536234|683222|683223|805247|818178|963502|965958", "text": "Feingold syndrome 1" }, { - "baseId": "28938|28939|83949", + "upstreamId": "28938|28939|83949", "text": "Large congenital melanocytic nevus" }, { - "baseId": "28939|83949", + "upstreamId": "28939|83949", "text": "Neurocutaneous melanocytosis" }, { - "baseId": "28940|28941|28942|48946|142241|142242|172330|172331|206711|275941|275948|275949|275955|275957|276087|276092|276093|276107|276109|276116|276117|276118|276130|276241|276242|276250|276258|276259|276265|276267|276282|276283|276286|276346|276347|276358|276367|276380|276403|276416|276418|276428|276429|276440|364371|404885|861980|861981|861982|861983|861984|861985|861986|861987|861988|861989|861990|861991|861992|861993|861994|861995|861996|861997|861998|861999|862000|862001|862002|862003|862004|862005|862006|862007|862008|862009|862010|864961", + "upstreamId": "28940|28941|28942|48946|142241|142242|172330|172331|206711|275941|275948|275949|275955|275957|276087|276092|276093|276107|276109|276116|276117|276118|276130|276241|276242|276250|276258|276259|276265|276267|276282|276283|276286|276346|276347|276358|276367|276380|276403|276416|276418|276428|276429|276440|364371|404885|861980|861981|861982|861983|861984|861985|861986|861987|861988|861989|861990|861991|861992|861993|861994|861995|861996|861997|861998|861999|862000|862001|862002|862003|862004|862005|862006|862007|862008|862009|862010|864961", "text": "Noonan syndrome 6" }, { - "baseId": "28943|462454|462456|463311|527341|840232|840233|840234|926723|926724|936243|936244|956924|956925|956926", + "upstreamId": "28943|462454|462456|463311|527341|840232|840233|840234|926723|926724|936243|936244|956924|956925|956926", "text": "Accelerated tumor formation, susceptibility to" }, { - "baseId": "28944|28947|28948|28949|28950|28952|28953|28954|28955|28956|28957|28958|28967|28968|28969|28970|28971|28972|28972|28974|28975|28977|28978|28981|28984|28985|28987|28988|28990|28993|36221|36222|36223|36224|36228|36230|36235|36242|36246|36247|36249|36255|36260|36261|36267|36269|36273|36275|36278|36279|36280|36284|36286|36288|36289|36291|36292|36293|36296|36298|36304|36310|38399|45382|45383|45384|45388|47198|47200|47215|47216|47217|47230|47233|50280|50281|50282|50283|50284|50285|136461|136475|136510|138916|138917|138918|138919|138920|138926|138928|139806|139807|139808|139809|139812|139813|139814|139816|139820|139822|139823|139825|139827|139828|139830|139832|139834|139835|151134|151385|171124|171125|182944|182945|182950|182955|182958|186115|186117|186118|197378|197386|212764|212766|212767|212768|212769|212772|212775|212776|212785|212787|212790|212792|212793|212794|212795|221949|221950|221952|221961|221962|221967|221969|221970|221971|221972|221976|221977|240783|240788|240790|240791|240792|240793|240795|240796|240806|240811|253762|310292|321368|321384|321388|358819|358820|358821|358822|358823|358824|358825|358826|358827|358828|358829|358830|358831|358832|359964|397244|397271|397281|397282|397451|397456|397793|397813|459825|460013|460278|460727|475257|525176|525320|525390|525471|539277|539278|539279|539280|539281|539282|539283|539284|539285|539286|539287|540534|540540|540543|540546|540550|563727|569655|575800|575801|575802|575803|575804|575805|790958|790959|967151", + "upstreamId": "28944|28947|28948|28949|28950|28952|28953|28954|28955|28956|28957|28958|28967|28968|28969|28970|28971|28972|28972|28974|28975|28977|28978|28981|28984|28985|28987|28988|28990|28993|36221|36222|36223|36224|36228|36230|36235|36242|36246|36247|36249|36255|36260|36261|36267|36269|36273|36275|36278|36279|36280|36284|36286|36288|36289|36291|36292|36293|36296|36298|36304|36310|38399|45382|45383|45384|45388|47198|47200|47215|47216|47217|47230|47233|50280|50281|50282|50283|50284|50285|136461|136475|136510|138916|138917|138918|138919|138920|138926|138928|139806|139807|139808|139809|139812|139813|139814|139816|139820|139822|139823|139825|139827|139828|139830|139832|139834|139835|151134|151385|171124|171125|182944|182945|182950|182955|182958|186115|186117|186118|197378|197386|212764|212766|212767|212768|212769|212772|212775|212776|212785|212787|212790|212792|212793|212794|212795|221949|221950|221952|221961|221962|221967|221969|221970|221971|221972|221976|221977|240783|240788|240790|240791|240792|240793|240795|240796|240806|240811|253762|310292|321368|321384|321388|358819|358820|358821|358822|358823|358824|358825|358826|358827|358828|358829|358830|358831|358832|359964|397244|397271|397281|397282|397451|397456|397793|397813|459825|460013|460278|460727|475257|525176|525320|525390|525471|539277|539278|539279|539280|539281|539282|539283|539284|539285|539286|539287|540534|540540|540543|540546|540550|563727|569655|575800|575801|575802|575803|575804|575805|790958|790959|967151", "text": "Multiple endocrine neoplasia, type 2a" }, { - "baseId": 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"text": "Multiple endocrine neoplasia, type 2" }, { - "baseId": 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"text": "Multiple endocrine neoplasia, type 1" }, { - "baseId": "28948|28949|28955|28956|28957|28958|28967|28968|28970|28972|28975|28977|28986|28987|28990|36221|36224|36228|36242|36249|36261|36280|36284|36293|36296|36298|38399|47198|47215|47217|47233|50281|50282|50283|136461|136475|138916|138917|138919|138920|138926|138928|139806|139808|139809|139812|139822|139823|139828|139830|139832|139834|139835|171124|171125|182944|182945|182950|182955|182958|186115|186117|212766|212775|212787|221950|221952|221961|221967|221970|221972|221977|240788|240791|240795|240811|321368|358819|358820|358821|358822|358823|358824|358825|358826|358827|358828|358829|358830|358831|358832|525640|919267|919268|919269|967151|974878", + "upstreamId": "28948|28949|28955|28956|28957|28958|28967|28968|28970|28972|28975|28977|28986|28987|28990|36221|36224|36228|36242|36249|36261|36280|36284|36293|36296|36298|38399|47198|47215|47217|47233|50281|50282|50283|136461|136475|138916|138917|138919|138920|138926|138928|139806|139808|139809|139812|139822|139823|139828|139830|139832|139834|139835|171124|171125|182944|182945|182950|182955|182958|186115|186117|212766|212775|212787|221950|221952|221961|221967|221970|221972|221977|240788|240791|240795|240811|321368|358819|358820|358821|358822|358823|358824|358825|358826|358827|358828|358829|358830|358831|358832|525640|919267|919268|919269|967151|974878", "text": "Multiple endocrine neoplasia, type 2b" }, { - "baseId": "28948|28955|28956|28957|28958|28968|28970|28972|28975|28990|36222|36224|36242|36249|36257|36272|36284|36301|47217|47233|54283|363191|363192|363193", + "upstreamId": "28948|28955|28956|28957|28958|28968|28970|28972|28975|28990|36222|36224|36242|36249|36257|36272|36284|36301|47217|47233|54283|363191|363192|363193", "text": "Medullary thyroid carcinoma" }, { - "baseId": "28954|28954|28955|28962|28975|28977|28983|28987|28991|36237|36246|36288|45384|50284|54761|101892|101893|133398|138927|171124|171125|171126|231108|514269|551710|590752|590753|590754|590755|590756|590757|590759|590760|590761|590966|590967|590968|590969|590970|590971|610667|672082|679030|679039|679042|679045|679054|679058|679061|679070|679071|679075|679080|679083|679085|679089|679092|679096|679097|679098|679099|679102|679105|679113|679121|679129|679130|679132|679133|679140|679160|679171|679172|679771|682630|683144|858654|858655", + "upstreamId": "28954|28954|28955|28962|28975|28977|28983|28987|28991|36237|36246|36288|45384|50284|54761|101892|101893|133398|138927|171124|171125|171126|231108|514269|551710|590752|590753|590754|590755|590756|590757|590759|590760|590761|590966|590967|590968|590969|590970|590971|610667|672082|679030|679039|679042|679045|679054|679058|679061|679070|679071|679075|679080|679083|679085|679089|679092|679096|679097|679098|679099|679102|679105|679113|679121|679129|679130|679132|679133|679140|679160|679171|679172|679771|682630|683144|858654|858655", "text": "Hirschsprung disease" }, { - "baseId": "28956", + "upstreamId": "28956", "text": "Thyroid carcinoma" }, { - "baseId": "28958", + "upstreamId": "28958", "text": "Thyroid carcinoma, sporadic medullary" }, { - "baseId": "28969", + "upstreamId": "28969", "text": "MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA" }, { - "baseId": "28972|28973", + "upstreamId": "28972|28973", "text": "MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITH HIRSCHSPRUNG DISEASE" }, { - "baseId": "28975|28977|28985|28986|28993|28994|36221|36228|36230|36269|36275|36287|36305|45384|50278|50282|50284|50285|50293|101890|101891|101892|136461|136472|138916|138926|139807|139815|139817|139819|139827|139828|139830|139833|139835|171125|182944|182948|182956|182958|186117|186118|212767|212783|212784|212794|212930|213771|221946|240788|240790|240797|240802|271973|310269|310270|310276|310292|310293|310301|310303|310308|310309|310315|310324|310330|310333|310334|310337|314528|314532|314540|314552|315391|315392|315393|315394|315397|315398|315399|315400|315401|315409|315411|315412|315418|315419|316327|316346|321246|321368|321369|321370|321384|321385|321388|321398|321411|321412|321414|321415|321417|321419|321420|321423|322063|322066|322067|322068|322098|322103|322120|322121|322125|322128|322139|322140|322141|322142|322151|322153|322160|322161|322168|323758|327388|327389|327400|328439|331128|353127|353128|353220|358824|358829|397269|397444|397680|397699|459817|460008|460025|460251|460316|460325|460677|460686|475107|525176|539281|569630|569655|836830|865863|865864|865865|865866|865867|865868|865869|865870|865871|865872|865873|865874|865875|865876|865877|865878|865879|865880|865881|865882|868471|868472", + "upstreamId": "28975|28977|28985|28986|28993|28994|36221|36228|36230|36269|36275|36287|36305|45384|50278|50282|50284|50285|50293|101890|101891|101892|136461|136472|138916|138926|139807|139815|139817|139819|139827|139828|139830|139833|139835|171125|182944|182948|182956|182958|186117|186118|212767|212783|212784|212794|212930|213771|221946|240788|240790|240797|240802|271973|310269|310270|310276|310292|310293|310301|310303|310308|310309|310315|310324|310330|310333|310334|310337|314528|314532|314540|314552|315391|315392|315393|315394|315397|315398|315399|315400|315401|315409|315411|315412|315418|315419|316327|316346|321246|321368|321369|321370|321384|321385|321388|321398|321411|321412|321414|321415|321417|321419|321420|321423|322063|322066|322067|322068|322098|322103|322120|322121|322125|322128|322139|322140|322141|322142|322151|322153|322160|322161|322168|323758|327388|327389|327400|328439|331128|353127|353128|353220|358824|358829|397269|397444|397680|397699|459817|460008|460025|460251|460316|460325|460677|460686|475107|525176|539281|569630|569655|836830|865863|865864|865865|865866|865867|865868|865869|865870|865871|865872|865873|865874|865875|865876|865877|865878|865879|865880|865881|865882|868471|868472", "text": "Multiple endocrine neoplasia" }, { - "baseId": "28984", + "upstreamId": "28984", "text": "MEN2 phenotype: Unclassified" }, { - "baseId": "28987", + "upstreamId": "28987", "text": "Central hypoventilation syndrome, congenital, with hirschsprung disease" }, { - "baseId": "28988", + "upstreamId": "28988", "text": "MEN2 phenotype: Unknown" }, { - "baseId": "28993", + "upstreamId": "28993", "text": "Hirschsprung disease, protection against" }, { - "baseId": "28996|28996|28997|28998|28999|49044|49045|49046|49047|49048|49055|49056|49064|49072|49075|49076|49079|49081|49084|49089|49091|49095|49096|49097|49098|49100|49101|53790|53797|125840|173746|173883|173889|179046|221364|259750|288551|288552|288556|288557|289314|289320|289321|289324|289332|292325|292338|292352|292354|292462|292470|292475|425523|442524|451825|452141|487033|500278|500494|816448|887836|887837|887838|887839|887840|887841|887842|887843|887844|887845|887846|887847|887848|887849|887850|887851|887852|887853|887854|887855|966789", + "upstreamId": "28996|28996|28997|28998|28999|49044|49045|49046|49047|49048|49055|49056|49064|49072|49075|49076|49079|49081|49084|49089|49091|49095|49096|49097|49098|49100|49101|53790|53797|125840|173746|173883|173889|179046|221364|259750|288551|288552|288556|288557|289314|289320|289321|289324|289332|292325|292338|292352|292354|292462|292470|292475|425523|442524|451825|452141|487033|500278|500494|816448|887836|887837|887838|887839|887840|887841|887842|887843|887844|887845|887846|887847|887848|887849|887850|887851|887852|887853|887854|887855|966789", "text": "Noonan syndrome 5" }, { - "baseId": "28996|28996|28999|49044|49045|49046|49047|49048|49055|49056|49075|49079|49081|49083|49091|49095|49096|49097|49098|49100|49101|53790|53797|53800|173746|173883|173889|179046|179055|221364|259750|288551|288552|288556|288557|289314|289320|289321|289324|289332|292325|292338|292352|292354|292462|292470|292475|425523|442524|451825|452141|487033|500278|500494|790324|887836|887837|887838|887839|887840|887841|887842|887843|887844|887845|887846|887847|887848|887849|887850|887851|887852|887853|887854|887855|918797|966789", + "upstreamId": "28996|28996|28999|49044|49045|49046|49047|49048|49055|49056|49075|49079|49081|49083|49091|49095|49096|49097|49098|49100|49101|53790|53797|53800|173746|173883|173889|179046|179055|221364|259750|288551|288552|288556|288557|289314|289320|289321|289324|289332|292325|292338|292352|292354|292462|292470|292475|425523|442524|451825|452141|487033|500278|500494|790324|887836|887837|887838|887839|887840|887841|887842|887843|887844|887845|887846|887847|887848|887849|887850|887851|887852|887853|887854|887855|918797|966789", "text": "LEOPARD syndrome 2" }, { - "baseId": "28996|49075|152010|152012|152013|179044|179046|425523|487033", + "upstreamId": "28996|49075|152010|152012|152013|179044|179046|425523|487033", "text": "Cardiomyopathy, dilated, 1NN" }, { - "baseId": "29000|235242|243608|612016", + "upstreamId": "29000|235242|243608|612016", "text": "Papillary thyroid carcinoma" }, { - "baseId": "29000", + "upstreamId": "29000", "text": "Astrocytoma, low-grade, somatic" }, { - "baseId": "29000", + "upstreamId": "29000", "text": "Germ cell tumor, nonseminomatous" }, { - "baseId": "29000|236444|362948|363046", + "upstreamId": "29000|236444|362948|363046", "text": "Colonic neoplasm" }, { - "baseId": "29000", + "upstreamId": "29000", "text": "Cystic epithelial invagination containing papillae lined by columnar epithelium" }, { - "baseId": "29000|362820", + "upstreamId": "29000|362820", "text": "Trametinib-Dabrafenib Response" }, { - "baseId": "29000|362820", + "upstreamId": "29000|362820", "text": "Vemurafenib-Cobimetinib Response" }, { - "baseId": "29004|29012|29012|29013|29014|29015|29016|29017|29018|29019|29020|29020|38760|38762|38762|38762|48807|48817|48842|48843|48849|48854|48857|49239|53966|53978|53985|174176|175716|198628|264307|359646|359799|363168|537817|552584|790700|790701|790702|790703|790704|790705|919082|919083|919084|920237|964283|965456", + "upstreamId": "29004|29012|29012|29013|29014|29015|29016|29017|29018|29019|29020|29020|38760|38762|38762|38762|48807|48817|48842|48843|48849|48854|48857|49239|53966|53978|53985|174176|175716|198628|264307|359646|359799|363168|537817|552584|790700|790701|790702|790703|790704|790705|919082|919083|919084|920237|964283|965456", "text": "Cardiofaciocutaneous syndrome 1" }, { - "baseId": "29008|29012|29012|29020|38760|38760|38761|38762|38762|38763|48803|48805|48807|48817|48830|48832|48833|48861|48869|49883|49885|53955|53966|53966|53976|53978|53992|53994|137459|140239|174040|301991|302003|309876|310006|310007|359646|359799|395820|494963|496489|501861|552584|578455|654129|897546|897547|897548|897549|897550|897551|897552|897553|897554|897555|897556|897557", + "upstreamId": "29008|29012|29012|29020|38760|38760|38761|38762|38762|38763|48803|48805|48807|48817|48830|48832|48833|48861|48869|49883|49885|53955|53966|53966|53976|53978|53992|53994|137459|140239|174040|301991|302003|309876|310006|310007|359646|359799|395820|494963|496489|501861|552584|578455|654129|897546|897547|897548|897549|897550|897551|897552|897553|897554|897555|897556|897557", "text": "Noonan syndrome 7" }, { - "baseId": "29012|29020|38760|38762|38762|38762|48803|48805|48807|48817|48817|48830|48832|48833|48861|48869|49883|49885|53955|53966|53976|53978|53992|53994|137459|140239|174040|301991|302003|309876|310006|310007|359646|359799|395820|494963|496489|501861|552584|897546|897547|897548|897549|897550|897551|897552|897553|897554|897555|897556|897557", + "upstreamId": "29012|29020|38760|38762|38762|38762|48803|48805|48807|48817|48817|48830|48832|48833|48861|48869|49883|49885|53955|53966|53976|53978|53992|53994|137459|140239|174040|301991|302003|309876|310006|310007|359646|359799|395820|494963|496489|501861|552584|897546|897547|897548|897549|897550|897551|897552|897553|897554|897555|897556|897557", "text": "LEOPARD syndrome 3" }, { - "baseId": "29017", + "upstreamId": "29017", "text": "Familial cardiofaciocutaneous syndrome" }, { - "baseId": "29019|360041|621022|621029|621030", + "upstreamId": "29019|360041|621022|621029|621030", "text": "Genetic syndrome with a Dandy-Walker malformation as major feature" }, { - "baseId": "29019", + "upstreamId": "29019", "text": "Tethered cord" }, { - "baseId": "29019", + "upstreamId": "29019", "text": "PHACE syndrome" }, { - "baseId": "29019|181451|249186|360041|362521|419008|419011|538282|590021|621019|621022|621029|621030|621032|965915|980695|980696", + "upstreamId": "29019|181451|249186|360041|362521|419008|419011|538282|590021|621019|621022|621029|621030|621032|965915|980695|980696", "text": "Dandy-Walker syndrome" }, { - "baseId": "29022|789168", + "upstreamId": "29022|789168", "text": "Proteus syndrome" }, { - "baseId": "29022", + "upstreamId": "29022", "text": "Meningeal Neoplasms" }, { - "baseId": "29022|152509|362957|363226|363232", + "upstreamId": "29022|152509|362957|363226|363232", "text": "Prostate neoplasm" }, { - "baseId": "29022|48662|48663|137193|137194|222360|222361|222362|241781|241782|241783|241784|241785|241786|241787|241788|241789|241790|241791|241792|241793|241794|399550|399555|399560|399561|399660|399666|399671|399672|399674|399676|399678|399680|399685|399688|399692|399701|399703|400089|400091|400268|400269|400272|400276|400279|463114|463116|463565|463568|463569|463574|463575|463578|463863|463866|463869|463872|464062|464068|464070|464078|464079|464083|464090|464091|490094|504954|527961|528007|528011|528012|528018|528020|528027|528028|528352|528354|528357|528366|528368|528467|528469|528474|528480|528481|528488|528490|567840|567841|567852|567855|572691|572696|572705|572715|572717|572718|572722|572735|575930|575931|575932|642178|642179|642180|642181|642182|642183|642184|642185|642186|642187|642188|652581|652901|652902|652907|684465|685394|688245|688246|688247|688248|688249|688252|688253|690076|693447|693449|693450|695612|702779|725583|769700|791384|820598|841139|841140|841141|841142|841143|841144|841145|841146|841147|841148|841149|841150|841151|841152|841153|851985|926975|926976|926977|926978|936535|936536|936537|940298|940299|941056|948453|948454|948455|948456|948457|948458|948459|960078", + "upstreamId": "29022|48662|48663|137193|137194|222360|222361|222362|241781|241782|241783|241784|241785|241786|241787|241788|241789|241790|241791|241792|241793|241794|399550|399555|399560|399561|399660|399666|399671|399672|399674|399676|399678|399680|399685|399688|399692|399701|399703|400089|400091|400268|400269|400272|400276|400279|463114|463116|463565|463568|463569|463574|463575|463578|463863|463866|463869|463872|464062|464068|464070|464078|464079|464083|464090|464091|490094|504954|527961|528007|528011|528012|528018|528020|528027|528028|528352|528354|528357|528366|528368|528467|528469|528474|528480|528481|528488|528490|567840|567841|567852|567855|572691|572696|572705|572715|572717|572718|572722|572735|575930|575931|575932|642178|642179|642180|642181|642182|642183|642184|642185|642186|642187|642188|652581|652901|652902|652907|684465|685394|688245|688246|688247|688248|688249|688252|688253|690076|693447|693449|693450|695612|702779|725583|769700|791384|820598|841139|841140|841141|841142|841143|841144|841145|841146|841147|841148|841149|841150|841151|841152|841153|851985|926975|926976|926977|926978|936535|936536|936537|940298|940299|941056|948453|948454|948455|948456|948457|948458|948459|960078", "text": "Cowden syndrome 6" }, { - "baseId": "29023|29024|29757", + "upstreamId": "29023|29024|29757", "text": "Diabetes mellitus, type 1, susceptibility to" }, { - "baseId": "29025|29026|301785|301796|301797|301798|301799|301801|301802|301808|301809|301813|301816|301817|301818|301824|301825|304949|304950|304951|304954|304956|304970|304978|309593|309599|309601|309602|309603|309604|309629|309630|309638|309639|309640|309645|309654|309657|309658|309780|309781|309784|309785|309786|309790|442478|735933|897356|897357|897358|897359|897360|897361|897363|897365|897367|897368|897369|897370|897371|897372|897373|897374|897376|897377|897379|897380|897382|897384|897387|897388|897389|897391|897392|897394", + "upstreamId": "29025|29026|301785|301796|301797|301798|301799|301801|301802|301808|301809|301813|301816|301817|301818|301824|301825|304949|304950|304951|304954|304956|304970|304978|309593|309599|309601|309602|309603|309604|309629|309630|309638|309639|309640|309645|309654|309657|309658|309780|309781|309784|309785|309786|309790|442478|735933|897356|897357|897358|897359|897360|897361|897363|897365|897367|897368|897369|897370|897371|897372|897373|897374|897376|897377|897379|897380|897382|897384|897387|897388|897389|897391|897392|897394", "text": "Leptin deficiency or dysfunction" }, { - "baseId": "29027|29028|29029|29030|29031|29032|29033|29034|29035|29036|142432|142433|320249|320254|320258|320261|320264|320270|320271|328777|328781|328783|328786|328796|328798|328800|328812|328814|328815|328829|328837|328851|335434|335442|335444|335445|335459|337295|337304|337308|337310|337311|337315|337318|337323|337324|337325|373716|375911|421973|439296|445186|463876|497661|513342|528033|528374|528494|528495|566289|567860|567862|567863|568732|572739|624472|642189|642190|642191|642192|642193|739159|769715|841154|841155|841156|841157|841158|841159|871672|871673|871674|871675|871676|871677|871678|871679|871680|871681|871682|871683|871684|871685|872356|872357|926979|936538|936539|948460", + "upstreamId": "29027|29028|29029|29030|29031|29032|29033|29034|29035|29036|142432|142433|320249|320254|320258|320261|320264|320270|320271|328777|328781|328783|328786|328796|328798|328800|328812|328814|328815|328829|328837|328851|335434|335442|335444|335445|335459|337295|337304|337308|337310|337311|337315|337318|337323|337324|337325|373716|375911|421973|439296|445186|463876|497661|513342|528033|528374|528494|528495|566289|567860|567862|567863|568732|572739|624472|642189|642190|642191|642192|642193|739159|769715|841154|841155|841156|841157|841158|841159|871672|871673|871674|871675|871676|871677|871678|871679|871680|871681|871682|871683|871684|871685|872356|872357|926979|936538|936539|948460", "text": "Purine-nucleoside phosphorylase deficiency" }, { - "baseId": "29031", + "upstreamId": "29031", "text": "NUCLEOSIDE PHOSPHORYLASE POLYMORPHISM" }, { - "baseId": "29037|216786|216787|216788", + "upstreamId": "29037|216786|216787|216788", "text": "Myelodysplastic syndrome progressed to acute myeloid leukemia" }, { - "baseId": "29041|132071|132072|132073|251790|251792|295574|295575|295576|295580|295587|295608|295609|295611|295621|295624|295629|295631|295634|295636|295640|295645|297367|297373|297380|297383|297384|297391|297393|297396|297397|297398|297402|297403|297408|297410|297414|297416|297417|297418|297420|297422|297430|301196|301243|301247|301250|301251|301252|301254|301257|301258|301259|301271|301290|301296|301297|301431|301434|301435|301437|301448|301458|301461|301462|301471|301473|301474|301475|301478|301481|301482|301483|454639|454644|454646|454706|454707|455446|455449|520789|520793|521041|521219|560163|560165|560167|562858|562861|564791|564799|564804|633476|633477|633478|633479|633480|633481|633482|633483|691755|695276|698818|698819|698821|709651|734871|734872|734873|749252|749253|749254|764913|777511|782185|830352|830353|830354|830357|830358|830359|830360|830361|830362|893089|893090|893091|893092|893093|893094|893095|893096|893097|893098|893099|893100|893101|893102|893103|893104|893105|893106|893107|893108|932729|932730|944417|954052|960554", + "upstreamId": "29041|132071|132072|132073|251790|251792|295574|295575|295576|295580|295587|295608|295609|295611|295621|295624|295629|295631|295634|295636|295640|295645|297367|297373|297380|297383|297384|297391|297393|297396|297397|297398|297402|297403|297408|297410|297414|297416|297417|297418|297420|297422|297430|301196|301243|301247|301250|301251|301252|301254|301257|301258|301259|301271|301290|301296|301297|301431|301434|301435|301437|301448|301458|301461|301462|301471|301473|301474|301475|301478|301481|301482|301483|454639|454644|454646|454706|454707|455446|455449|520789|520793|521041|521219|560163|560165|560167|562858|562861|564791|564799|564804|633476|633477|633478|633479|633480|633481|633482|633483|691755|695276|698818|698819|698821|709651|734871|734872|734873|749252|749253|749254|764913|777511|782185|830352|830353|830354|830357|830358|830359|830360|830361|830362|893089|893090|893091|893092|893093|893094|893095|893096|893097|893098|893099|893100|893101|893102|893103|893104|893105|893106|893107|893108|932729|932730|944417|954052|960554", "text": "Amyotrophic lateral sclerosis 21" }, { - "baseId": "29042|29043|29044|320464|320465|320466|320468|320471|320475|320482|329238|329242|329255|329256|329257|329260|335859|335860|335861|335863|335864|337761|337777|337780|337782|337786|463733|464036|528122|528157|528492|528497|528629|568024|568029|568031|568865|572781|581247|581248|581249|581250|581251|581252|642353|642354|642355|652343|702862|739201|754028|754029|754031|784716|784717|841363|841364|841365|841366|841367|841368|841369|841370|871836|871837|871838|871839|871840|871841|871842|871843|871844|927027|927028|927029|927030|936598|936599|948536|957202", + "upstreamId": "29042|29043|29044|320464|320465|320466|320468|320471|320475|320482|329238|329242|329255|329256|329257|329260|335859|335860|335861|335863|335864|337761|337777|337780|337782|337786|463733|464036|528122|528157|528492|528497|528629|568024|568029|568031|568865|572781|581247|581248|581249|581250|581251|581252|642353|642354|642355|652343|702862|739201|754028|754029|754031|784716|784717|841363|841364|841365|841366|841367|841368|841369|841370|871836|871837|871838|871839|871840|871841|871842|871843|871844|927027|927028|927029|927030|936598|936599|948536|957202", "text": "Ectodermal dysplasia and immunodeficiency 2" }, { - "baseId": "29045|325808|325809|325811|325817|325821|335429|335436|341880|341881", + "upstreamId": "29045|325808|325809|325811|325817|325821|335429|335436|341880|341881", "text": "Orthostatic intolerance" }, { - "baseId": "29046|29046|29047|29050|102896|171811|294660|519673|632527|651126|691638|698680|698681", + "upstreamId": "29046|29046|29047|29050|102896|171811|294660|519673|632527|651126|691638|698680|698681", "text": "Parkinson disease 1" }, { - "baseId": "29048", + "upstreamId": "29048", "text": "Parkinson disease 4" }, { - "baseId": "29051", + "upstreamId": "29051", "text": "Pyloric stenosis, infantile hypertrophic 1" }, { - "baseId": "29053|32105", + "upstreamId": "29053|32105", "text": "Malaria, severe, resistance to" }, { - "baseId": "29054|29055", + "upstreamId": "29054|29055", "text": "Coronary artery spasm 1, susceptibility to" }, { - "baseId": "29054", + "upstreamId": "29054", "text": "Hypertension, pregnancy-induced, susceptibility to" }, { - "baseId": "29054", + "upstreamId": "29054", "text": "Hypertension resistant to conventional therapy" }, { - "baseId": "29054", + "upstreamId": "29054", "text": "Ischemic heart disease, susceptibility to" }, { - "baseId": "29056|29057|29058", + "upstreamId": "29056|29057|29058", "text": "Glaucoma 1, open angle, O" }, { - "baseId": "29056|132600|132601|512663|538511|553406|583137|611450|805130|920021|920022|961359|971205|976685", + "upstreamId": "29056|132600|132601|512663|538511|553406|583137|611450|805130|920021|920022|961359|971205|976685", "text": "Mental retardation, X-linked 99" }, { - "baseId": "29059|29060|29061|29062|250163|359373|427881|516338|516339|516353|559204|612558|628443|628444|628445|628446|628447|650782|707732|719261|732771|746776|762184|780829|794771|819047|824755|824756|824757|824758|922238|930799|942229|961927", + "upstreamId": "29059|29060|29061|29062|250163|359373|427881|516338|516339|516353|559204|612558|628443|628444|628445|628446|628447|650782|707732|719261|732771|746776|762184|780829|794771|819047|824755|824756|824757|824758|922238|930799|942229|961927", "text": "Warts, hypogammaglobulinemia, infections, and myelokathexis" }, { - "baseId": "29059", + "upstreamId": "29059", "text": "Myelokathexis, isolated" }, { - "baseId": "29063", + "upstreamId": "29063", "text": "NEUROPEPTIDE Y POLYMORPHISM" }, { - "baseId": "29064|29065|76986|76987|181582|291881|291882|291883|293276|293277|293279|293285|293291|296542|296545|296546|296567|296568|296569|296596|296599|296600|367744|406379|428249|438891|443537|500660|500982|576771|620770|720701|734383|806427|889835|889836|889837|889838|889839|889840|889841|889842|889843|889844", + "upstreamId": "29064|29065|76986|76987|181582|291881|291882|291883|293276|293277|293279|293285|293291|296542|296545|296546|296567|296568|296569|296596|296599|296600|367744|406379|428249|438891|443537|500660|500982|576771|620770|720701|734383|806427|889835|889836|889837|889838|889839|889840|889841|889842|889843|889844", "text": "Hypogonadotropic hypogonadism 11 with or without anosmia" }, { - "baseId": "29066", + "upstreamId": "29066", "text": "Hypogonadotropic hypogonadism 10 without anosmia" }, { - "baseId": "29068", + "upstreamId": "29068", "text": "Peripheral demyelination" }, { - "baseId": "29068|361106", + "upstreamId": "29068|361106", "text": "Hand muscle atrophy" }, { - "baseId": "29068|29215|213789|270687|275542|360799|361080|361106|514010", + "upstreamId": "29068|29215|213789|270687|275542|360799|361080|361106|514010", "text": "Distal muscle weakness" }, { - "baseId": "29068|29215|361106", + "upstreamId": "29068|29215|361106", "text": "Decreased nerve conduction velocity" }, { - "baseId": "29068|29215|360953|361106|361106|969265|972893", + "upstreamId": "29068|29215|360953|361106|361106|969265|972893", "text": "Pes cavus" }, { - "baseId": "29068|39536|360954|361106|513931|677219", + "upstreamId": "29068|39536|360954|361106|513931|677219", "text": "Distal lower limb muscle weakness" }, { - "baseId": "29068|29069|29073|38758|49660|49660|49661|49662|49663|77570|77573|77578|77583|77590|77592|212633|221757|231697|304959|304983|304984|305007|308667|308670|308671|308698|308700|308702|308708|313844|313846|313921|313922|313923|313931|313938|662832|676963|899361|899362|899364|899365|899366|899367|899368|899369|899370|899371|899372|899373|899374|899375|899376|899377|899378|899379|919147|919148", + "upstreamId": "29068|29069|29073|38758|49660|49660|49661|49662|49663|77570|77573|77578|77583|77590|77592|212633|221757|231697|304959|304983|304984|305007|308667|308670|308671|308698|308700|308702|308708|313844|313846|313921|313922|313923|313931|313938|662832|676963|899361|899362|899364|899365|899366|899367|899368|899369|899370|899371|899372|899373|899374|899375|899376|899377|899378|899379|919147|919148", "text": "Charcot-Marie-Tooth disease, demyelinating, type 1f" }, { - "baseId": "29075|29076|29077|29078|29080|298389|298390|298394|298395|298401|298402|298403|298407|298408|298415|298417|298418|300698|300699|300709|300710|300711|300726|300728|300729|300730|300733|300735|300740|300741|300742|300750|300756|305090|305097|305100|305102|305104|305111|305113|305114|305127|305129|305130|305136|305138|305139|305140|305239|305243|305244|305251|305252|305253|305264|305265|425653|428471|721598|790570|798563|798564|894996|894997|894998|894999|895000|895001|895002|895005|895006|895007|895008|895009|895012|895013|895015|895017|895018|895019|895020|895021|895022|895023|895024|895025|895026|895027|895028|895029|895030|895032|896162|896163|983657", + "upstreamId": "29075|29076|29077|29078|29080|298389|298390|298394|298395|298401|298402|298403|298407|298408|298415|298417|298418|300698|300699|300709|300710|300711|300726|300728|300729|300730|300733|300735|300740|300741|300742|300750|300756|305090|305097|305100|305102|305104|305111|305113|305114|305127|305129|305130|305136|305138|305139|305140|305239|305243|305244|305251|305252|305253|305264|305265|425653|428471|721598|790570|798563|798564|894996|894997|894998|894999|895000|895001|895002|895005|895006|895007|895008|895009|895012|895013|895015|895017|895018|895019|895020|895021|895022|895023|895024|895025|895026|895027|895028|895029|895030|895032|896162|896163|983657", "text": "Proprotein convertase 1/3 deficiency" }, { - "baseId": "29079", + "upstreamId": "29079", "text": "Body mass index quantitative trait locus 12" }, { - "baseId": "29081|48109|177889|551571|612304", + "upstreamId": "29081|48109|177889|551571|612304", "text": "Retinitis pigmentosa 27" }, { - "baseId": "29082|29083", + "upstreamId": "29082|29083", "text": "Retinal degeneration, autosomal recessive, clumped pigment type" }, { - "baseId": "29084|38757|244182|244183|244184|275970|275971|276175|276184|276303|276306|276307|276443|276444|276445|364307|364372|446990|446993|447079|447084|447092|447096|447097|447150|447168|447175|447178|447184|514984|514989|514991|514992|514993|515032|515036|515040|515057|556560|556593|556857|556988|624883|626662|626663|626664|626665|626666|626667|626668|626669|626670|626671|626672|626673|690348|761095|761096|761097|780278|792667|822577|822578|822579|822580|822581|822582|822583|822584|862012|862013|862014|921599|929983|929984|929985|941396|952026|952027", + "upstreamId": "29084|38757|244182|244183|244184|275970|275971|276175|276184|276303|276306|276307|276443|276444|276445|364307|364372|446990|446993|447079|447084|447092|447096|447097|447150|447168|447175|447178|447184|514984|514989|514991|514992|514993|515032|515036|515040|515057|556560|556593|556857|556988|624883|626662|626663|626664|626665|626666|626667|626668|626669|626670|626671|626672|626673|690348|761095|761096|761097|780278|792667|822577|822578|822579|822580|822581|822582|822583|822584|862012|862013|862014|921599|929983|929984|929985|941396|952026|952027", "text": "Congenital sensory neuropathy with selective loss of small myelinated fibers" }, { - "baseId": 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"text": "Nemaline myopathy 2" }, { - "baseId": "29092|29093|181494|296719|296720|296723|296724|296725|296737|298589|298593|298595|298602|298603|302717|302718|302727|302744|302778|302790|303018|303032|303035|303036|454853|455342|520965|520966|520976|521190|521192|521195|521196|521398|521468|521473|560241|560243|560354|564979|564981|620193|633684|633685|633686|633687|633688|698995|709789|734987|734988|744131|830576|830577|830578|830579|830580|830581|893762|893763|893764|893765|893766|893767|893768|893769|893770|893771|893772|893773|893774|893775|893776|893777|893778|893779|923969|932816|932817|939998|944508|944509|944510|954100", + "upstreamId": "29092|29093|181494|296719|296720|296723|296724|296725|296737|298589|298593|298595|298602|298603|302717|302718|302727|302744|302778|302790|303018|303032|303035|303036|454853|455342|520965|520966|520976|521190|521192|521195|521196|521398|521468|521473|560241|560243|560354|564979|564981|620193|633684|633685|633686|633687|633688|698995|709789|734987|734988|744131|830576|830577|830578|830579|830580|830581|893762|893763|893764|893765|893766|893767|893768|893769|893770|893771|893772|893773|893774|893775|893776|893777|893778|893779|923969|932816|932817|939998|944508|944509|944510|954100", "text": "Immunodeficiency 29" }, { - "baseId": "29094", + "upstreamId": "29094", "text": "Asthma, severe, susceptibility to" }, { - "baseId": "29095|29096|29098|314909|359994|626209|788853|964848", + "upstreamId": "29095|29096|29098|314909|359994|626209|788853|964848", "text": "Mitochondrial complex 1 deficiency, nuclear type 4" }, { - "baseId": "29100|29101|29102|40437|40440|52289|52291|52299|52300|173797|173798|173800|179061|229099|291667|294871|295253|295255|295257|576329|889125|889126|889127|889128", + "upstreamId": "29100|29101|29102|40437|40440|52289|52291|52299|52300|173797|173798|173800|179061|229099|291667|294871|295253|295255|295257|576329|889125|889126|889127|889128", "text": "Familial hypertrophic cardiomyopathy 8" }, { - "baseId": 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"29103|29104|29105|29106|29107|40426|40428|40431|40432|45305|45307|45308|45309|52627|52628|52630|52633|52634|52636|52638|52639|52640|52641|52642|52643|52644|52645|52646|52647|52648|52650|136725|142102|165570|175387|175390|175392|175532|175537|175538|179423|179424|179425|179426|179427|179430|179432|179433|179436|179437|179438|179439|189892|214121|215442|224436|241238|258711|258712|316034|316035|316036|329386|329400|329402|330565|372551|374583|389976|390072|398419|398437|398525|398830|398957|408523|415321|424565|438508|461609|461616|462181|462187|462412|462414|462418|508870|526673|526675|526680|526684|526918|527233|527238|527248|565053|566320|567664|567667|615035|615039|617889|617890|640634|640635|640636|640637|640638|652398|666512|685303|687879|791194|791195|799665|839314|839315|839316|839317|839318|839319|839320|839321|852655|869283|869284|869285|869286|869287|869288|872191|911909|926465|926466|935918|935919|956747|960774", "text": "Familial hypertrophic cardiomyopathy 10" }, { - "baseId": "29103", + "upstreamId": "29103", "text": "MYL2-Related Disorders" }, { - "baseId": "29104|75310|78586", + "upstreamId": "29104|75310|78586", "text": "Death in early adulthood" }, { - "baseId": "29108|29109|255284|552183|583124|791476", + "upstreamId": "29108|29109|255284|552183|583124|791476", "text": "Griscelli syndrome type 1" }, { - "baseId": "29111|29112|29113|29114|29115|29116|29117|29118|29119|29120|29121|29122|29123|29124|29125|47567|47568|47569|47570|53729|53734|176268|176270|176394|176408|201017|351526|432343|434682|497536|513148|590338|590339|623356|818346|818347|818348|919951|921221", + "upstreamId": "29111|29112|29113|29114|29115|29116|29117|29118|29119|29120|29121|29122|29123|29124|29125|47567|47568|47569|47570|53729|53734|176268|176270|176394|176408|201017|351526|432343|434682|497536|513148|590338|590339|623356|818346|818347|818348|919951|921221", "text": "Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss" }, { - "baseId": 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+ "upstreamId": "29111|29112|29113|29114|29117|29120|29121|29122|47569|47570|53715|53716|53717|53718|53719|53720|53721|53722|53723|53724|53725|53726|53727|53728|53729|53730|53732|53733|53734|53736|53737|53738|53739|53740|176254|176256|176257|176259|176260|176265|176267|176268|176269|176271|176272|176273|176277|176282|176286|176372|176380|176386|176388|176392|176395|176396|176401|176402|176404|176408|201017|231139|231148|231149|231155|231161|231162|231165|231168|231169|231170|231171|257619|257621|257641|257647|257658|274300|338000|338001|338003|338006|338008|338013|338018|338019|338024|338026|338028|338030|338034|338041|338057|338058|338060|338062|338063|338064|338068|347647|347648|347652|347653|347654|347658|347663|347670|347671|347672|347674|347676|347678|347681|347682|347683|347685|347686|347690|347691|347692|347697|347698|347707|351511|351512|351513|351515|351518|351523|351524|351526|351527|351529|351531|351534|351535|351536|351541|351551|351553|351555|352497|352498|352499|352500|352501|352502|352503|352504|352505|352506|352507|352508|352509|352510|352511|352512|352513|352514|352515|352516|352517|352518|353606|353607|363895|379851|497760|497763|514108|612057|612058|612059|612060|612061|612062|612063|612064|612065|612066|612067|612068|612069|612070|612071|612072|612073|612074|615654|615655|615657|615659|615662|620688|672115|760982|818346|891201|891202|891203|891204|891205|891206|891207|891208|891209|891210|891211|891212|891213|891214|891215|891216|891217|891218|891219|891220|891221|891222|891223|891224|891225|891226|891227|891228|891229|891230|891231|891232|891233|891234|891235|891236|891237|891238|891239|891240|891825|891826|891827|891828|891829|891830", "text": "MYH9-related disorder" }, { - "baseId": "29118|29122|47570|53715|53716|53717|53718|53719|53720|53721|53722|53723|53724|53725|53726|53727|53728|53729|53730|53732|53733|53734|53736|53737|53739|53740|176254|176256|176257|176259|176260|176265|176267|176268|176269|176271|176272|176273|176277|176282|176286|176372|176380|176386|176388|176392|176394|176395|176396|176401|176402|176404|176408|176408|231139|231148|231149|231155|231161|231162|231165|231168|231169|231170|231171|257619|257621|257641|257647|257658|274300|338000|338001|338003|338006|338008|338013|338018|338019|338024|338026|338028|338030|338034|338041|338057|338058|338060|338062|338063|338064|338068|347647|347652|347653|347654|347658|347663|347670|347671|347672|347674|347676|347678|347681|347682|347683|347685|347686|347690|347691|347692|347697|347698|351511|351512|351513|351518|351523|351524|351526|351527|351529|351531|351534|351535|351536|351541|351551|351553|352497|352498|352499|352500|352501|352502|352503|352504|352505|352506|352508|352509|352511|352512|352513|352515|352516|352518|379851|497536|497760|497763|513667|615654|654931|760982|818346|891201|891202|891203|891204|891205|891206|891207|891208|891209|891210|891211|891212|891213|891214|891215|891216|891217|891218|891219|891220|891221|891222|891223|891224|891225|891226|891227|891228|891229|891230|891231|891232|891233|891234|891235|891236|891237|891238|891239|891240|891825|891826|891827|891828|891829|891830", + "upstreamId": "29118|29122|47570|53715|53716|53717|53718|53719|53720|53721|53722|53723|53724|53725|53726|53727|53728|53729|53730|53732|53733|53734|53736|53737|53739|53740|176254|176256|176257|176259|176260|176265|176267|176268|176269|176271|176272|176273|176277|176282|176286|176372|176380|176386|176388|176392|176394|176395|176396|176401|176402|176404|176408|176408|231139|231148|231149|231155|231161|231162|231165|231168|231169|231170|231171|257619|257621|257641|257647|257658|274300|338000|338001|338003|338006|338008|338013|338018|338019|338024|338026|338028|338030|338034|338041|338057|338058|338060|338062|338063|338064|338068|347647|347652|347653|347654|347658|347663|347670|347671|347672|347674|347676|347678|347681|347682|347683|347685|347686|347690|347691|347692|347697|347698|351511|351512|351513|351518|351523|351524|351526|351527|351529|351531|351534|351535|351536|351541|351551|351553|352497|352498|352499|352500|352501|352502|352503|352504|352505|352506|352508|352509|352511|352512|352513|352515|352516|352518|379851|497536|497760|497763|513667|615654|654931|760982|818346|891201|891202|891203|891204|891205|891206|891207|891208|891209|891210|891211|891212|891213|891214|891215|891216|891217|891218|891219|891220|891221|891222|891223|891224|891225|891226|891227|891228|891229|891230|891231|891232|891233|891234|891235|891236|891237|891238|891239|891240|891825|891826|891827|891828|891829|891830", "text": "Autosomal dominant nonsyndromic deafness 17" }, { - "baseId": "29153|29156|29162|45303|45929|51986|51987|51989|51991|51993|51999|52023|52033|52034|52038|52039|52043|52056|52064|52066|52070|52101|52108|52111|52112|52114|52115|52116|52119|52122|52123|52126|52127|52140|52147|52150|52151|52153|52165|52168|52171|52177|52182|52194|52197|52202|52207|52208|52226|52242|52243|52252|52254|52261|52262|52273|52286|52287|142081|142083|142090|142091|142094|175443|175446|175448|175452|175513|175516|175586|175588|175606|178672|179466|179471|179522|179525|179526|179598|179680|179712|186460|186481|189951|213631|224471|254932|258801|258803|258808|320364|320370|320374|320376|320377|320379|320380|328973|328975|328980|328987|328990|328992|328994|328997|329003|335627|335628|335630|335631|335634|335643|335644|335647|335648|335649|337446|337452|337457|337458|337463|337467|337469|337478|337484|337486|353295|400159|463977|504491|528125|528424|624478|656238|688269|841243|841286|851989|871732|871733|871734|871735|871736|871737|871738|871739|872363|872364|872365|964412|964413|974522", + "upstreamId": "29153|29156|29162|45303|45929|51986|51987|51989|51991|51993|51999|52023|52033|52034|52038|52039|52043|52056|52064|52066|52070|52101|52108|52111|52112|52114|52115|52116|52119|52122|52123|52126|52127|52140|52147|52150|52151|52153|52165|52168|52171|52177|52182|52194|52197|52202|52207|52208|52226|52242|52243|52252|52254|52261|52262|52273|52286|52287|142081|142083|142090|142091|142094|175443|175446|175448|175452|175513|175516|175586|175588|175606|178672|179466|179471|179522|179525|179526|179598|179680|179712|186460|186481|189951|213631|224471|254932|258801|258803|258808|320364|320370|320374|320376|320377|320379|320380|328973|328975|328980|328987|328990|328992|328994|328997|329003|335627|335628|335630|335631|335634|335643|335644|335647|335648|335649|337446|337452|337457|337458|337463|337467|337469|337478|337484|337486|353295|400159|463977|504491|528125|528424|624478|656238|688269|841243|841286|851989|871732|871733|871734|871735|871736|871737|871738|871739|872363|872364|872365|964412|964413|974522", "text": "Myosin storage myopathy" }, { - "baseId": "29153|175452|179576|213631", + "upstreamId": "29153|175452|179576|213631", "text": "MYH7-related late-onset scapuloperoneal muscular dystrophy" }, { - "baseId": "29154|29161|45303|45929|51262|51986|51987|51989|51991|51993|51999|52023|52033|52034|52038|52039|52043|52056|52064|52066|52070|52101|52108|52111|52112|52114|52115|52116|52119|52122|52123|52126|52127|52140|52147|52150|52151|52153|52165|52168|52171|52177|52182|52190|52193|52194|52197|52202|52207|52208|52226|52239|52242|52243|52252|52254|52258|52258|52261|52262|52273|52286|52287|142081|142083|142090|142091|142094|152927|152928|152929|152930|152931|152932|152933|152934|152935|152936|152936|152937|171164|175443|175446|175448|175513|175516|175586|175588|175606|175630|178672|179466|179471|179522|179525|179576|179598|179680|179712|186460|186481|188227|188229|188230|188231|188232|188233|188234|188235|189951|213631|224471|254932|258801|258803|258808|320364|320370|320374|320376|320377|320379|320380|328973|328975|328980|328987|328990|328992|328994|328997|329003|335627|335628|335630|335631|335634|335643|335644|335647|335648|335649|337446|337452|337457|337458|337463|337467|337469|337478|337484|337486|353295|400159|463977|504491|528424|553353|624478|656238|688269|802192|841243|841286|851989|871732|871733|871734|871735|871736|871737|871738|871739|872363|872364|872365", + "upstreamId": 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"text": "Myopathy, distal, 1" }, { - "baseId": "29159|514040", + "upstreamId": "29159|514040", "text": "Chest pain" }, { - "baseId": "29160|175443|175588|179477|179680", + "upstreamId": "29160|175443|175588|179477|179680", "text": "Myopathy, myosin storage, autosomal recessive" }, { - "baseId": "29162|29165|29166|29167|76983|76984", + "upstreamId": "29162|29165|29166|29167|76983|76984", "text": "Left ventricular noncompaction 5" }, { - "baseId": 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+ "upstreamId": 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"text": "Cardiomyopathy, left ventricular noncompaction" }, { - "baseId": 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+ "upstreamId": 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"text": "Aortic aneurysm, familial thoracic 4" }, { - "baseId": "29175|227384|384618|622438|919699|919700", + "upstreamId": "29175|227384|384618|622438|919699|919700", "text": "Carney complex variant" }, { - "baseId": 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+ "upstreamId": 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"text": "Myopathy, proximal, and ophthalmoplegia" }, { - "baseId": 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+ "upstreamId": 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"text": "Freeman-Sheldon syndrome" }, { - "baseId": "29179|29181|29182|29183|29184|327216|578660|619825|682259|682260|816488|919701|919702|919703|962181|971065", + "upstreamId": "29179|29181|29182|29183|29184|327216|578660|619825|682259|682260|816488|919701|919702|919703|962181|971065", "text": "Arthrogryposis, distal, type 2b3" }, { - "baseId": "29184|199883|199884|237491|495655|578537|578659|578660|578660|578661|578664|578665|578665|622708|622709|622710", + "upstreamId": "29184|199883|199884|237491|495655|578537|578659|578660|578660|578661|578664|578665|578665|622708|622709|622710", "text": "Contractures, pterygia, and variable skeletal fusions syndrome 1A" }, { - "baseId": "29185", + "upstreamId": "29185", "text": "Myosin, cardiac, heavy chain variant" }, { - "baseId": 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+ "upstreamId": "29186|29188|29190|29190|29191|38754|45289|45290|45291|45296|53613|53615|53616|53617|53620|53625|53626|53627|53628|53634|53636|53636|53637|53638|53639|53640|53641|53641|53642|53643|53644|53646|53648|53649|53651|53653|53654|53655|53656|53659|53660|53661|53663|53664|53666|53667|53669|53672|53673|53676|53678|53679|53680|53680|53682|53683|53684|53686|53687|53688|53689|53690|53691|53692|53696|53700|53702|53703|53704|53708|53709|53712|53713|165563|175410|175411|175412|175413|175414|175415|175416|175417|175419|175420|175424|175426|175429|175430|175433|175434|175436|175554|175557|175559|175560|175562|175563|175565|175565|175569|175571|175572|175573|175574|175575|175577|175581|175582|178666|178667|178668|189930|189930|189931|189932|189933|189935|189937|189938|189939|189944|189947|189947|193334|194136|222364|222365|224451|224452|224454|224455|224456|230458|230459|230461|230462|230463|230470|230474|230480|230481|230482|241796|241797|241798|241799|241800|241801|241802|241803|241804|241805|241806|241807|241808|241809|241810|241811|241811|241812|241813|241814|254914|258754|258757|258758|258759|258761|258764|258766|258772|258773|258774|258778|258779|258784|258788|260540|320333|320339|320340|320362|328940|328957|335565|335571|335573|335590|335595|335601|335616|335619|337427|337435|337435|360038|360038|373004|373724|373732|375945|375962|375975|399564|399570|399577|399579|399581|399588|399589|399594|399706|399713|399720|399725|399727|399729|399732|399735|399739|399741|399742|399748|400097|400098|400108|400118|400126|400282|400290|400298|400299|400308|400309|400311|409082|409088|409091|421976|424895|426052|426054|426055|426055|426056|463121|463124|463125|463132|463134|463141|463143|463144|463146|463148|463150|463580|463582|463583|463585|463590|463594|463602|463603|463607|463609|463618|463622|463635|463638|463714|463884|463893|463895|463900|463909|463911|463912|463918|463919|463921|463927|463935|464102|464104|464110|464118|464119|464121|464124|464128|464131|464136|480712|487619|487731|497662|504457|504712|504977|504980|510414|510416|510419|510420|510429|510430|510432|510436|510438|510440|510444|510449|510452|510455|510457|511013|511111|514040|527996|528000|528002|528008|528009|528015|528019|528021|528023|528044|528049|528051|528054|528055|528056|528062|528063|528066|528068|528375|528377|528379|528384|528386|528395|528396|528396|528405|528416|528501|528502|528508|528510|528514|528516|528519|528524|528528|528532|528534|528540|528541|566319|566322|566323|566327|566334|566335|566341|566352|567870|567875|567879|567883|568757|568768|568778|568781|568782|568788|572745|572747|572753|572755|572756|572757|572759|615062|615063|615066|642205|642206|642207|642208|642209|642210|642211|642212|642213|642214|642215|642216|642217|642218|642219|642220|642221|642222|642223|642224|642225|642226|642227|642228|642229|642230|642231|642232|642233|642234|642235|642236|642237|642238|642239|642240|642241|642242|642243|642244|642245|642246|642247|642248|642249|642250|642251|642252|642253|642254|642255|652457|652588|652909|684466|684467|684468|685397|688257|688259|690078|693459|702820|739172|753988|778051|784684|796997|797002|820616|841200|841201|841202|841203|841204|841205|841206|841207|841208|841209|841210|841211|841212|841213|841214|841215|841216|841217|841218|841219|841220|841221|841222|841223|841224|841225|841226|841227|841228|841229|841230|841231|841232|841233|841234|841235|841236|841237|841238|841239|841240|841241|841242|904588|917184|919516|919517|926987|926988|926989|926990|926991|926992|926993|926994|926995|936555|936556|936557|936558|936559|936560|936561|936562|936563|936564|936565|936566|936567|936568|941057|948484|948485|948486|948487|948488|948489|948490|948491|948492|948493|948494|948495|957179|957180|957181|957182|957183|957184|957185|957186|960084|960085|960801", "text": "Familial hypertrophic cardiomyopathy 14" }, { - "baseId": "29187|53636|53640|53641|53680|175414|175565|189930|189947|241811|337435|360038|426055|528384|528396|680051", + "upstreamId": "29187|53636|53640|53641|53680|175414|175565|189930|189947|241811|337435|360038|426055|528384|528396|680051", "text": "Atrial septal defect 3" }, { - "baseId": "29189|29190|29191|53636|53640|53641|53680|175565|189930|189947|241811|258757|337435|360038|426055|528396", + "upstreamId": "29189|29190|29191|53636|53640|53641|53680|175565|189930|189947|241811|258757|337435|360038|426055|528396", "text": "Dilated cardiomyopathy 1EE" }, { - "baseId": "29192|429455|462474|462477|462478|462483|462739|462747|463216|463222|527345|565729|566276|572067|641394|840295|840296|840297|840298|936270|936271|936272", + "upstreamId": "29192|429455|462474|462477|462478|462483|462739|462747|463216|463222|527345|565729|566276|572067|641394|840295|840296|840297|840298|936270|936271|936272", "text": "Myopathy, centronuclear, 3" }, { - "baseId": "29193|29194|29195|29195|29196|29197|29197|29198|29199|29200|29201|29201|29203|138560|138561|138561|138564|138564|138566|138566|138567|138568|138568|138571|138571|138573|138573|138574|138574|138576|138576|138577|138577|138578|138578|139302|139302|139302|139303|139303|206802|206802|238283|238284|249935|249935|249937|249937|249938|249938|259670|259671|259671|280611|280612|280612|280613|280618|280620|280620|280621|280626|280633|281072|281085|281098|281111|281111|281129|281130|281131|281132|281134|281135|281136|281137|281138|282362|282363|282382|282383|282383|282387|282387|282391|282396|282399|282408|282416|282417|282418|282610|282612|282613|282614|282636|282657|282661|282675|282676|357085|357085|359248|391248|391248|427820|427821|427822|448099|448140|448238|515914|515914|516006|516006|516009|557065|557280|557282|558519|620001|621709|621709|627882|627882|627883|627884|627885|627886|650583|650664|683330|683330|683331|683331|685737|685737|685738|685738|685739|685740|685740|685741|685741|690606|696751|732458|761935|800986|800987|823992|823993|823993|823994|823995|823996|850971|861590|864454|864455|864456|864457|864458|864459|864460|864461|864462|864463|864464|864465|864466|864467|864468|864469|864470|864471|864473|864474|864475|906002|922030|922031|922032|922033|930495|941951|941951|971674|971675|971676|971677|971678|971679|971680|971681|971682|971683|971684|971685|977539|977540|977541|977542", + "upstreamId": "29193|29194|29195|29195|29196|29197|29197|29198|29199|29200|29201|29201|29203|138560|138561|138561|138564|138564|138566|138566|138567|138568|138568|138571|138571|138573|138573|138574|138574|138576|138576|138577|138577|138578|138578|139302|139302|139302|139303|139303|206802|206802|238283|238284|249935|249935|249937|249937|249938|249938|259670|259671|259671|280611|280612|280612|280613|280618|280620|280620|280621|280626|280633|281072|281085|281098|281111|281111|281129|281130|281131|281132|281134|281135|281136|281137|281138|282362|282363|282382|282383|282383|282387|282387|282391|282396|282399|282408|282416|282417|282418|282610|282612|282613|282614|282636|282657|282661|282675|282676|357085|357085|359248|391248|391248|427820|427821|427822|448099|448140|448238|515914|515914|516006|516006|516009|557065|557280|557282|558519|620001|621709|621709|627882|627882|627883|627884|627885|627886|650583|650664|683330|683330|683331|683331|685737|685737|685738|685738|685739|685740|685740|685741|685741|690606|696751|732458|761935|800986|800987|823992|823993|823993|823994|823995|823996|850971|861590|864454|864455|864456|864457|864458|864459|864460|864461|864462|864463|864464|864465|864466|864467|864468|864469|864470|864471|864473|864474|864475|906002|922030|922031|922032|922033|930495|941951|941951|971674|971675|971676|971677|971678|971679|971680|971681|971682|971683|971684|971685|977539|977540|977541|977542", "text": "Congenital amegakaryocytic thrombocytopenia" }, { - "baseId": "29195|29197|29201|138561|138564|138566|138567|138568|138571|138573|138574|138576|138577|138578|139302|139303|206802|249935|249937|249938|259670|259671|280612|280620|281111|282383|282387|357085|359248|427820|516006|557280|620001|621709|627882|627883|627884|627885|627886|650583|650664|683330|683331|685737|685738|685739|685740|685741|690606|732458|761935|823992|823993|823994|823995|823996|850971|922030|922031|922032|922033|930495|941951", + "upstreamId": "29195|29197|29201|138561|138564|138566|138567|138568|138571|138573|138574|138576|138577|138578|139302|139303|206802|249935|249937|249938|259670|259671|280612|280620|281111|282383|282387|357085|359248|427820|516006|557280|620001|621709|627882|627883|627884|627885|627886|650583|650664|683330|683331|685737|685738|685739|685740|685741|690606|732458|761935|823992|823993|823994|823995|823996|850971|922030|922031|922032|922033|930495|941951", "text": "essential thrombocytemia" }, { - "baseId": "29201|29202|139302|961925", + "upstreamId": "29201|29202|139302|961925", "text": "Thrombocytosis, benign familial microcytic" }, { - "baseId": "29202|362908|362916|362935", + "upstreamId": "29202|362908|362916|362935", "text": "Myeloproliferative Neoplasm" }, { - "baseId": "29202|29701|29701|39401|102915|139302|204470|227504|493110", + "upstreamId": "29202|29701|29701|39401|102915|139302|204470|227504|493110", "text": "Myelofibrosis" }, { - "baseId": "29203|29204", + "upstreamId": "29203|29204", "text": "Myelofibrosis with myeloid metaplasia" }, { - "baseId": "29203", + "upstreamId": "29203", "text": "Thrombocythemia 2, somatic" }, { - "baseId": "29205|29206|29210|29211|29212|29213|29214|29215|29216|29218|29220|29223|29224|29225|29226|29227|29230|29237|29239|29240|49436|49437|49438|49439|49440|49441|49442|49443|49444|49445|49446|49447|49448|49449|49450|135065|135065|141945|141945|204407|204408|204409|204479|213792|213793|238157|244139|244141|244171|244249|244251|244254|276934|276937|276938|276943|276944|277211|277215|277907|277912|277913|277914|278013|278014|278015|278027|390840|440400|515330|550200|862595|862596|862597|862598|862599|862600|862601|862602|862603|862604", + "upstreamId": "29205|29206|29210|29211|29212|29213|29214|29215|29216|29218|29220|29223|29224|29225|29226|29227|29230|29237|29239|29240|49436|49437|49438|49439|49440|49441|49442|49443|49444|49445|49446|49447|49448|49449|49450|135065|135065|141945|141945|204407|204408|204409|204479|213792|213793|238157|244139|244141|244171|244249|244251|244254|276934|276937|276938|276943|276944|277211|277215|277907|277912|277913|277914|278013|278014|278015|278027|390840|440400|515330|550200|862595|862596|862597|862598|862599|862600|862601|862602|862603|862604", "text": "Charcot-Marie-Tooth disease, demyelinating, type 1b" }, { - "baseId": "29215|213789|360953|514181", + "upstreamId": "29215|213789|360953|514181", "text": "Distal lower limb amyotrophy" }, { - "baseId": "29217|29231|29235|135065|141945|238157|244249|276934|276937|276938|276943|276944|277211|277215|277907|277912|277913|277914|278013|278014|278015|278027|515330|581855|626099|862595|862596|862597|862598|862599|862600|862601|862602|862603|862604", + "upstreamId": "29217|29231|29235|135065|141945|238157|244249|276934|276937|276938|276943|276944|277211|277215|277907|277912|277913|277914|278013|278014|278015|278027|515330|581855|626099|862595|862596|862597|862598|862599|862600|862601|862602|862603|862604", "text": "Congenital hypomyelinating neuropathy 2" }, { - "baseId": "29220|29223|29234|29238|135065|141945|440400", + "upstreamId": "29220|29223|29234|29238|135065|141945|440400", "text": "Charcot-Marie-Tooth disease type 2J" }, { - "baseId": "29220|29222|135065|141945|238157|244249|276934|276937|276938|276943|276944|277211|277215|277907|277912|277913|277914|278013|278014|278015|278027|515330|540438|624045|862595|862596|862597|862598|862599|862600|862601|862602|862603|862604|920598|964134", + "upstreamId": "29220|29222|135065|141945|238157|244249|276934|276937|276938|276943|276944|277211|277215|277907|277912|277913|277914|278013|278014|278015|278027|515330|540438|624045|862595|862596|862597|862598|862599|862600|862601|862602|862603|862604|920598|964134", "text": "Charcot-Marie-Tooth disease dominant intermediate d" }, { - "baseId": "29224|29232|29233|135065|141945|447442", + "upstreamId": "29224|29232|29233|135065|141945|447442", "text": "Charcot-Marie-Tooth disease type 2I" }, { - "baseId": "29227|29228", + "upstreamId": "29227|29228", "text": "Charcot-Marie-Tooth disease, type 1b, with focally folded myelin sheaths" }, { - "baseId": "29243", + "upstreamId": "29243", "text": "Asthma, protection against" }, { - "baseId": "29246", + "upstreamId": "29246", "text": "Spina bifida, susceptibility to" }, { - "baseId": "29246", + "upstreamId": "29246", "text": "Coronary artery disease, modifier of" }, { - "baseId": "29246", + "upstreamId": "29246", "text": "Coronary artery disease, development of, in hiv" }, { - "baseId": "29247|29247|29248|29249|29250|29251|29252|29253|29254|29258|29260|29261|29262|142624|142626|142627|187075|187075|264540|371271|373048|407700|415191|415192|415192|459199|459210|459520|480497|480498|502940|524974|524979|524984|525130|525133|544752|544755|544758|544759|544765|544769|544770|544773|544776|544785|544788|544790|544793|544796|544797|544801|544807|544808|544812|544815|544818|544823|544827|544831|544844|544848|544850|544851|544854|544861|544869|545022|545034|545041|545044|545049|545051|545053|545057|545060|545065|545068|545078|545083|545089|545090|545093|545095|545110|545112|545120|545123|545126|545129|545132|545134|545165|545176|545184|545185|545189|545190|545195|545196|545198|545202|545214|545220|545224|545225|545227|545229|545231|545234|545236|545239|545240|545248|545255|545308|545314|545318|545325|545326|545329|545335|545340|545343|545345|545347|545349|545351|545354|545355|545358|545361|545362|545364|545367|545384|545385|545390|545395|545398|545401|545402|545407|545408|545409|545414|545419|563255|565906|565908|621307|621308|621789|621790|621791|621792|621793|621794|638279|638282|638284|638286|638288|638289|638292|638293|638294|651905|651933|651944|652179|652183|652194|687494|695439|767403|767404|836133|836134|836137|836142|851343|851738|905987|905988|915083|915084|917040|917041|917477|917478|917479|963272|963273|963274|963275|972575|972576|978580|978581|978582|978583|978584", + "upstreamId": "29247|29247|29248|29249|29250|29251|29252|29253|29254|29258|29260|29261|29262|142624|142626|142627|187075|187075|264540|371271|373048|407700|415191|415192|415192|459199|459210|459520|480497|480498|502940|524974|524979|524984|525130|525133|544752|544755|544758|544759|544765|544769|544770|544773|544776|544785|544788|544790|544793|544796|544797|544801|544807|544808|544812|544815|544818|544823|544827|544831|544844|544848|544850|544851|544854|544861|544869|545022|545034|545041|545044|545049|545051|545053|545057|545060|545065|545068|545078|545083|545089|545090|545093|545095|545110|545112|545120|545123|545126|545129|545132|545134|545165|545176|545184|545185|545189|545190|545195|545196|545198|545202|545214|545220|545224|545225|545227|545229|545231|545234|545236|545239|545240|545248|545255|545308|545314|545318|545325|545326|545329|545335|545340|545343|545345|545347|545349|545351|545354|545355|545358|545361|545362|545364|545367|545384|545385|545390|545395|545398|545401|545402|545407|545408|545409|545414|545419|563255|565906|565908|621307|621308|621789|621790|621791|621792|621793|621794|638279|638282|638284|638286|638288|638289|638292|638293|638294|651905|651933|651944|652179|652183|652194|687494|695439|767403|767404|836133|836134|836137|836142|851343|851738|905987|905988|915083|915084|917040|917041|917477|917478|917479|963272|963273|963274|963275|972575|972576|978580|978581|978582|978583|978584", "text": "Metaphyseal chondrodysplasia, McKusick type" }, { - "baseId": "29247|29247|29255|29256|29257|29258|29259|187075|415192", + "upstreamId": "29247|29247|29255|29256|29257|29258|29259|187075|415192", "text": "Metaphyseal dysplasia without hypotrichosis" }, { - "baseId": "29247|29248|29249|29250|29253|29262|142623|142624|187075|264540|371271|373048|373049|373054|415192|433892|459199|459208|459210|459212|459219|459511|459518|459520|459594|459598|460060|460063|480497|480498|502940|524598|524609|524612|524618|524843|524850|524851|524973|524974|524979|524983|524984|525130|525133|525137|544785|544793|544796|544801|544808|544823|544851|545112|545120|545129|545185|545214|545224|545225|545240|545248|545329|545340|545354|545355|545358|545362|545385|545390|545409|563247|563253|563255|563257|564016|564023|564024|564037|565906|565907|565908|565910|569070|621308|621791|621792|621793|638279|638280|638281|638282|638283|638284|638285|638286|638287|638288|638289|638290|638291|638292|638293|638294|638295|651902|651903|651905|651911|651913|651918|651930|651933|651939|651944|651945|652021|652179|652183|652194|652197|652204|687494|689951|689952|695439|695440|695441|711963|767403|767404|820138|836131|836132|836133|836134|836135|836136|836137|836138|836139|836140|836141|836142|851341|851343|851738|852184|852508|852512|852514|852519|852520|905987|917477|925588|925589|925590|925591|925592|934764|934765|934766|934767|934768|934769|934770|934771|940148|940150|940938|940939|946631|946632|946633|946634|946635|955827|955828|955829|955830|955831|955832|955833|955834|955835|955836|955837|955838|955839|955840|955841|955842|955843|955844|955845|955846|955847|960686|960687|960688|960689|960690|960691|960692|960693|960694|960695|960696|960697|960698|960699|960700|960701|960702|960704", + "upstreamId": "29247|29248|29249|29250|29253|29262|142623|142624|187075|264540|371271|373048|373049|373054|415192|433892|459199|459208|459210|459212|459219|459511|459518|459520|459594|459598|460060|460063|480497|480498|502940|524598|524609|524612|524618|524843|524850|524851|524973|524974|524979|524983|524984|525130|525133|525137|544785|544793|544796|544801|544808|544823|544851|545112|545120|545129|545185|545214|545224|545225|545240|545248|545329|545340|545354|545355|545358|545362|545385|545390|545409|563247|563253|563255|563257|564016|564023|564024|564037|565906|565907|565908|565910|569070|621308|621791|621792|621793|638279|638280|638281|638282|638283|638284|638285|638286|638287|638288|638289|638290|638291|638292|638293|638294|638295|651902|651903|651905|651911|651913|651918|651930|651933|651939|651944|651945|652021|652179|652183|652194|652197|652204|687494|689951|689952|695439|695440|695441|711963|767403|767404|820138|836131|836132|836133|836134|836135|836136|836137|836138|836139|836140|836141|836142|851341|851343|851738|852184|852508|852512|852514|852519|852520|905987|917477|925588|925589|925590|925591|925592|934764|934765|934766|934767|934768|934769|934770|934771|940148|940150|940938|940939|946631|946632|946633|946634|946635|955827|955828|955829|955830|955831|955832|955833|955834|955835|955836|955837|955838|955839|955840|955841|955842|955843|955844|955845|955846|955847|960686|960687|960688|960689|960690|960691|960692|960693|960694|960695|960696|960697|960698|960699|960700|960701|960702|960704", "text": "Anauxetic dysplasia" }, { - "baseId": "29247|29264|29265|29266|29267|29268|187075|415192", + "upstreamId": "29247|29264|29265|29266|29267|29268|187075|415192", "text": "Anauxetic dysplasia 1" }, { - "baseId": "29269|29270|29271|29272|40569|65581|65582|65583|142182|142183|210748|265866|421356|425460|619933|620738|679334|788745|788746|861127|905017|918730", + "upstreamId": "29269|29270|29271|29272|40569|65581|65582|65583|142182|142183|210748|265866|421356|425460|619933|620738|679334|788745|788746|861127|905017|918730", "text": "Mitochondrial complex 1 deficiency, nuclear type 5" }, { - "baseId": "29273|29274|29275|29276|29277|29278|29279|29280|29281|29282|135071|135072|135073|135074|135075|194285|194809|267430|268464|269525|273699|294755|294756|294757|294764|294765|294769|294771|294774|294778|294779|294784|294786|294790|294800|294801|294802|296351|296352|296353|296358|296368|296370|296384|296394|296398|296404|296411|296412|300104|300106|300115|300117|300118|300119|300124|300136|300138|300139|300151|300153|300155|300160|300162|300163|300165|300172|300178|300180|300191|300198|300200|300214|300215|300222|300224|300225|413670|428330|487115|492548|508798|512899|543264|615975|615976|621179|651181|721136|721137|734783|734784|764653|764660|764661|764662|764664|782065|787394|829544|829545|829547|829554|829555|829559|890823|890824|890825|890826|890827|890828|890829|890830|890831|890832|890833|890834|890835|890836|890837|890838|890839|890840|890841|890842|890843|890844|890845|890846|890847|890848|891802|891803|891804|944153|971853|971854|971855|971856|971857|971858|971859|971860|971861|971862|971863|971864|971865|971866|971867|971868|971869|978110|978111|978112|978113|978114|978115|978116", + "upstreamId": "29273|29274|29275|29276|29277|29278|29279|29280|29281|29282|135071|135072|135073|135074|135075|194285|194809|267430|268464|269525|273699|294755|294756|294757|294764|294765|294769|294771|294774|294778|294779|294784|294786|294790|294800|294801|294802|296351|296352|296353|296358|296368|296370|296384|296394|296398|296404|296411|296412|300104|300106|300115|300117|300118|300119|300124|300136|300138|300139|300151|300153|300155|300160|300162|300163|300165|300172|300178|300180|300191|300198|300200|300214|300215|300222|300224|300225|413670|428330|487115|492548|508798|512899|543264|615975|615976|621179|651181|721136|721137|734783|734784|764653|764660|764661|764662|764664|782065|787394|829544|829545|829547|829554|829555|829559|890823|890824|890825|890826|890827|890828|890829|890830|890831|890832|890833|890834|890835|890836|890837|890838|890839|890840|890841|890842|890843|890844|890845|890846|890847|890848|891802|891803|891804|944153|971853|971854|971855|971856|971857|971858|971859|971860|971861|971862|971863|971864|971865|971866|971867|971868|971869|978110|978111|978112|978113|978114|978115|978116", "text": "Abetalipoproteinaemia" }, { - "baseId": "29281", + "upstreamId": "29281", "text": "Metabolic syndrome, protection against" }, { - "baseId": "29283", + "upstreamId": "29283", "text": "Prostate cancer, hereditary, 13" }, { - "baseId": "29284|29284|29285|29286|29286|29287|29290|29291|29292|29292|29293|29295|29296|29297|29300|29301|29305|29307|31050|33162|33163|33164|33166|33170|33175|33182|33184|33184|33187|33194|33195|33196|33880|46864|79017|103896|103907|103914|103918|103940|103945|103957|103986|104001|104044|104089|104095|104097|104100|104103|104105|104109|104111|104113|104114|104114|104117|104123|195230|199866|199867|199868|199869|199870|199871|217270|227392|255044|256221|275813|275835|275846|275852|275853|275859|275867|275874|275875|275885|275924|275994|276114|291699|291712|291719|291720|291722|293045|293046|296286|296298|296308|296311|296313|296319|296362|296363|296366|300690|328688|328797|330240|336729|338670|338744|338789|338792|344740|353027|360942|418804|418805|422174|467806|468102|468117|468120|531369|531370|531431|531670|531674|539073|568253|569009|569205|571537|577364|577367|590946|590947|590954|590956|590958|590959|590960|590961|590962|590963|590964|608810|614153|626253|642667|642668|642669|642670|642671|642672|642673|642674|646108|646109|646110|646111|646112|646113|677120|684679|685434|693591|694092|695745|695747|695749|739304|745294|755909|778505|789819|791784|798717|841713|841714|841715|841716|841717|841718|845515|858702|858704|858705|858707|858711|858712|936704|948648|949982|949983|949984|949985|957292|957293|958147|958148|960223|970503", + "upstreamId": "29284|29284|29285|29286|29286|29287|29290|29291|29292|29292|29293|29295|29296|29297|29300|29301|29305|29307|31050|33162|33163|33164|33166|33170|33175|33182|33184|33184|33187|33194|33195|33196|33880|46864|79017|103896|103907|103914|103918|103940|103945|103957|103986|104001|104044|104089|104095|104097|104100|104103|104105|104109|104111|104113|104114|104114|104117|104123|195230|199866|199867|199868|199869|199870|199871|217270|227392|255044|256221|275813|275835|275846|275852|275853|275859|275867|275874|275875|275885|275924|275994|276114|291699|291712|291719|291720|291722|293045|293046|296286|296298|296308|296311|296313|296319|296362|296363|296366|300690|328688|328797|330240|336729|338670|338744|338789|338792|344740|353027|360942|418804|418805|422174|467806|468102|468117|468120|531369|531370|531431|531670|531674|539073|568253|569009|569205|571537|577364|577367|590946|590947|590954|590956|590958|590959|590960|590961|590962|590963|590964|608810|614153|626253|642667|642668|642669|642670|642671|642672|642673|642674|646108|646109|646110|646111|646112|646113|677120|684679|685434|693591|694092|695745|695747|695749|739304|745294|755909|778505|789819|791784|798717|841713|841714|841715|841716|841717|841718|845515|858702|858704|858705|858707|858711|858712|936704|948648|949982|949983|949984|949985|957292|957293|958147|958148|960223|970503", "text": "Frontotemporal dementia" }, { - "baseId": "29284|29284|29286|29292|29302|29306|29308|227392|422174|539073|626253", + "upstreamId": "29284|29284|29286|29292|29302|29306|29308|227392|422174|539073|626253", "text": "Progressive supranuclear ophthalmoplegia" }, { - "baseId": "29284|29286|29292|104135|422174", + "upstreamId": "29284|29286|29292|104135|422174", "text": "Parkinson-dementia syndrome" }, { - "baseId": "29284|29286|29292|29294|29298|29299|29301|33162|33163|33164|33166|33170|33175|33182|33184|33187|33188|33194|33195|33196|33880|46864|103896|103907|103914|103918|103940|103945|103957|103986|104001|227392|255044|330240|336729|338744|422174|539073|568253|569009|577364|577367|626253|642667|642668|642669|642670|642671|642672|642673|642674|693591|739304|841713|841714|841715|841716|841717|841718|936704|948648|957292|957293", + "upstreamId": "29284|29286|29292|29294|29298|29299|29301|33162|33163|33164|33166|33170|33175|33182|33184|33187|33188|33194|33195|33196|33880|46864|103896|103907|103914|103918|103940|103945|103957|103986|104001|227392|255044|330240|336729|338744|422174|539073|568253|569009|577364|577367|626253|642667|642668|642669|642670|642671|642672|642673|642674|693591|739304|841713|841714|841715|841716|841717|841718|936704|948648|957292|957293", "text": "Pick's disease" }, { - "baseId": "29300|104096|104097|104099|104100|104101|104103|104108|256217|256219|328788|328789|328791|328792|328797|328802|328805|328808|328813|328817|328823|328825|328826|328828|328833|328835|328838|328839|328840|328844|328846|328847|328848|328853|328870|328876|328887|328892|328893|338763|338774|338782|338789|338792|338793|338794|338801|338804|338812|338814|338815|338817|338819|338821|338828|338829|338833|338841|338843|338846|338849|338852|338854|338857|338859|338860|338864|338872|338877|338879|338885|338887|344826|344829|344836|344837|344842|344845|344847|344848|344854|344855|344856|344859|344862|344868|344871|344877|344882|344884|344886|344887|344893|344897|344898|344902|344904|344906|344907|344911|344915|344922|344930|344933|346212|346213|346214|346215|346222|346223|346224|346225|346226|346228|346229|346233|346234|346236|346239|346240|346244|346251|346252|346253|346256|346265|346267|346268|346272|413472|531674|577644|646110|877785|877786|877787|877788|877789|877790|877791|877792|877793|877794|877795|877796|877797|877798|877799|877800|877801|877802|877803|877804|877805|877806|877807|877808|877809|877810|877811|877812|877813|877814|877815|877816|877817|877818|877819|877820|877821|880543", + "upstreamId": "29300|104096|104097|104099|104100|104101|104103|104108|256217|256219|328788|328789|328791|328792|328797|328802|328805|328808|328813|328817|328823|328825|328826|328828|328833|328835|328838|328839|328840|328844|328846|328847|328848|328853|328870|328876|328887|328892|328893|338763|338774|338782|338789|338792|338793|338794|338801|338804|338812|338814|338815|338817|338819|338821|338828|338829|338833|338841|338843|338846|338849|338852|338854|338857|338859|338860|338864|338872|338877|338879|338885|338887|344826|344829|344836|344837|344842|344845|344847|344848|344854|344855|344856|344859|344862|344868|344871|344877|344882|344884|344886|344887|344893|344897|344898|344902|344904|344906|344907|344911|344915|344922|344930|344933|346212|346213|346214|346215|346222|346223|346224|346225|346226|346228|346229|346233|346234|346236|346239|346240|346244|346251|346252|346253|346256|346265|346267|346268|346272|413472|531674|577644|646110|877785|877786|877787|877788|877789|877790|877791|877792|877793|877794|877795|877796|877797|877798|877799|877800|877801|877802|877803|877804|877805|877806|877807|877808|877809|877810|877811|877812|877813|877814|877815|877816|877817|877818|877819|877820|877821|880543", "text": "MAPT-Related Spectrum Disorders" }, { - "baseId": "29309|29310|29311|29312|29313|29315|29316|31677|38747|229145|229145|229146|229149|229149|229152|229153|229154|229155|237600|291435|291442|291443|291446|291448|291449|291454|291458|291463|291464|291468|291469|291475|291477|291484|292693|292694|292697|292698|292701|292705|292707|292708|292709|292713|292714|292716|292717|292722|295984|295987|295988|295989|295997|295999|296003|296010|296017|296031|296032|296043|296051|296058|296069|359493|361916|361917|361918|367718|443510|481055|481056|481057|481058|481059|495149|535279|535280|535381|535701|537754|537755|537756|537757|537758|537759|537760|631792|655579|734287|748510|793044|802068|828567|851093|889613|889614|889615|889616|889617|889618|889619|889620|889621|889622|889623|889624|889625|889626|889627|889628|889629|889630|889631|889632|889633|889634|889635|889636|889637|889638|889639|889640|889641|889642|889643|889644|889645|889646|889647|889648|889649|889650|889651|889652|889653|891702|891703|891704|891705|891706|964225|965737|983613|983614|983623|983624|983625|983626|983627|983628|983629", + "upstreamId": "29309|29310|29311|29312|29313|29315|29316|31677|38747|229145|229145|229146|229149|229149|229152|229153|229154|229155|237600|291435|291442|291443|291446|291448|291449|291454|291458|291463|291464|291468|291469|291475|291477|291484|292693|292694|292697|292698|292701|292705|292707|292708|292709|292713|292714|292716|292717|292722|295984|295987|295988|295989|295997|295999|296003|296010|296017|296031|296032|296043|296051|296058|296069|359493|361916|361917|361918|367718|443510|481055|481056|481057|481058|481059|495149|535279|535280|535381|535701|537754|537755|537756|537757|537758|537759|537760|631792|655579|734287|748510|793044|802068|828567|851093|889613|889614|889615|889616|889617|889618|889619|889620|889621|889622|889623|889624|889625|889626|889627|889628|889629|889630|889631|889632|889633|889634|889635|889636|889637|889638|889639|889640|889641|889642|889643|889644|889645|889646|889647|889648|889649|889650|889651|889652|889653|891702|891703|891704|891705|891706|964225|965737|983613|983614|983623|983624|983625|983626|983627|983628|983629", "text": "Waardenburg syndrome type 2A" }, { - "baseId": "29311|29314|38747|229145|229145|229146|229149|229149|229153|229154|229155|291435|291442|291443|291446|291448|291449|291454|291455|291457|291458|291463|291464|291468|291469|291475|291477|291484|292693|292694|292697|292698|292701|292705|292707|292708|292709|292713|292714|292716|292717|292718|292722|295984|295987|295988|295989|295997|295999|296003|296010|296017|296031|296032|296043|296046|296047|296048|296051|296058|296060|296069|443510|535381|535701|631792|655579|734287|748510|790415|793044|828567|851093|889613|889614|889615|889616|889617|889618|889619|889620|889621|889622|889623|889624|889625|889626|889627|889628|889629|889630|889631|889632|889633|889634|889635|889636|889637|889638|889639|889640|889641|889642|889643|889644|889645|889646|889647|889648|889649|889650|889651|889652|889653|891702|891703|891704|891705|891706|918856|918857", + "upstreamId": "29311|29314|38747|229145|229145|229146|229149|229149|229153|229154|229155|291435|291442|291443|291446|291448|291449|291454|291455|291457|291458|291463|291464|291468|291469|291475|291477|291484|292693|292694|292697|292698|292701|292705|292707|292708|292709|292713|292714|292716|292717|292718|292722|295984|295987|295988|295989|295997|295999|296003|296010|296017|296031|296032|296043|296046|296047|296048|296051|296058|296060|296069|443510|535381|535701|631792|655579|734287|748510|790415|793044|828567|851093|889613|889614|889615|889616|889617|889618|889619|889620|889621|889622|889623|889624|889625|889626|889627|889628|889629|889630|889631|889632|889633|889634|889635|889636|889637|889638|889639|889640|889641|889642|889643|889644|889645|889646|889647|889648|889649|889650|889651|889652|889653|891702|891703|891704|891705|891706|918856|918857", "text": "Tietz syndrome" }, { - "baseId": "29311|361916|361917|361918", + "upstreamId": "29311|361916|361917|361918", "text": "Coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness" }, { - "baseId": "29311|192593|215772|228526|228928|228929|228930|228931|228932|228936|228937|228938|230449|231226|231227|231228|231231|231235|284872|284880|284881|284886|285534|285535|287842|287843|287860|287879|287881|287886|288118|288125|288126|288127|288130|291455|291457|292718|296046|296047|296048|296060|335064|336129|337038|345839|347741|347742|347749|350281|350282|350287|351585|351588|351589|351593|351594|351597|351600|351602|352543|352544|352545|352546|352547|352548|360856|446415|496263|496265|496686|508172|694737|742898|747372|747374|883882|883883|883884|883885|883886|883887|883888|883889|883890|883891|883892|891282|891283|891284|891285|891286|891287|891288|891289|891290|891291|891292|891293|891294|891295", + "upstreamId": "29311|192593|215772|228526|228928|228929|228930|228931|228932|228936|228937|228938|230449|231226|231227|231228|231231|231235|284872|284880|284881|284886|285534|285535|287842|287843|287860|287879|287881|287886|288118|288125|288126|288127|288130|291455|291457|292718|296046|296047|296048|296060|335064|336129|337038|345839|347741|347742|347749|350281|350282|350287|351585|351588|351589|351593|351594|351597|351600|351602|352543|352544|352545|352546|352547|352548|360856|446415|496263|496265|496686|508172|694737|742898|747372|747374|883882|883883|883884|883885|883886|883887|883888|883889|883890|883891|883892|891282|891283|891284|891285|891286|891287|891288|891289|891290|891291|891292|891293|891294|891295", "text": "Waardenburg syndrome" }, { - "baseId": "29315", + "upstreamId": "29315", "text": "Poliosis" }, { - "baseId": "29315", + "upstreamId": "29315", "text": "Heterochromia iridis" }, { - "baseId": "29315|424972", + "upstreamId": "29315|424972", "text": "Prelingual sensorineural hearing impairment" }, { - "baseId": "29317|29318|29319|29320|29321|29322|29323|29325|29326|29327|141985|196160|199943|279787|279799|279810|279813|280114|280122|280140|281420|281427|281428|281437|281438|281439|281568|281576|281581|281635|364964|364968|425347|498246|498341|514894|515573|515577|515647|515652|515703|557168|558389|558389|627531|627532|627533|627534|627535|627536|627537|627538|627539|627540|650623|650717|707239|729984|746311|774474|789948|789949|823634|823635|823636|823637|823638|823639|823640|850760|864030|920142|920143|921899|921900|921901|930384|941817|941818|941819|952330|952331|960425|961749|961801|961802", + "upstreamId": "29317|29318|29319|29320|29321|29322|29323|29325|29326|29327|141985|196160|199943|279787|279799|279810|279813|280114|280122|280140|281420|281427|281428|281437|281438|281439|281568|281576|281581|281635|364964|364968|425347|498246|498341|514894|515573|515577|515647|515652|515703|557168|558389|558389|627531|627532|627533|627534|627535|627536|627537|627538|627539|627540|650623|650717|707239|729984|746311|774474|789948|789949|823634|823635|823636|823637|823638|823639|823640|850760|864030|920142|920143|921899|921900|921901|930384|941817|941818|941819|952330|952331|960425|961749|961801|961802", "text": "Methylcobalamin deficiency type cblG" }, { - "baseId": "29317|360996|405676", + "upstreamId": "29317|360996|405676", "text": "Intellectual disability, profound" }, { - "baseId": "29317|79480|181418|818745", + "upstreamId": "29317|79480|181418|818745", "text": "Seizure disorder" }, { - "baseId": "29317|800981", + "upstreamId": "29317|800981", "text": "Decreased methionine synthase activity" }, 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+ "upstreamId": 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"text": "Merosin deficient congenital muscular dystrophy" }, { - "baseId": 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"text": "Laminin alpha 2-related dystrophy" }, { - "baseId": "29335|75098|98863|172224|172224|193821|194098|268652|272150|301389|305943|306020|359716|425666|425668|428505|428511|428512|428513|440910|440912|440919|443870|455876|456094|521746|543600|543769|543871|563386|576066|576067|576068|620210|624851|634596|677124|677159|795750|965273|971887|971888|971889|971890|971891|971892|971893|971894|971895|971896|971897|971898|971899|971900|971901|971902|971903|971904|971905|971906|971907|971908|971909|971910|971911|971912|971913|971914|971915|971916|971917|971918|971919|971920|971921|971922|971923|971924|971925|971926|971927|971928|971929|971930|971931|971932|971933|971934|971935|971936|971937|971938|971939|971940|971941|971942|971943|971944|971945|971946|971947|971948|971949|971950|971951|971952", + "upstreamId": "29335|75098|98863|172224|172224|193821|194098|268652|272150|301389|305943|306020|359716|425666|425668|428505|428511|428512|428513|440910|440912|440919|443870|455876|456094|521746|543600|543769|543871|563386|576066|576067|576068|620210|624851|634596|677124|677159|795750|965273|971887|971888|971889|971890|971891|971892|971893|971894|971895|971896|971897|971898|971899|971900|971901|971902|971903|971904|971905|971906|971907|971908|971909|971910|971911|971912|971913|971914|971915|971916|971917|971918|971919|971920|971921|971922|971923|971924|971925|971926|971927|971928|971929|971930|971931|971932|971933|971934|971935|971936|971937|971938|971939|971940|971941|971942|971943|971944|971945|971946|971947|971948|971949|971950|971951|971952", "text": "Muscular dystrophy, limb-girdle, autosomal recessive 23" }, { - "baseId": 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+ "upstreamId": 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"text": "Congenital muscular dystrophy due to partial LAMA2 deficiency" }, { - "baseId": "29343|437665|964427", + "upstreamId": "29343|437665|964427", "text": "Spondyloepiphyseal dysplasia, kimberley type" }, { - "baseId": "29344|610397|610398|788892|816526|816527", + "upstreamId": "29344|610397|610398|788892|816526|816527", "text": "Spondyloepimetaphyseal dysplasia, aggrecan type" }, { - "baseId": "29345|247337|434369|434370|434371|434372|434373|434374|434375|434376|434377|434378|437665|439352|623319|791493|791494|791495|861580|964425|964426|964428|964429|964430", + "upstreamId": "29345|247337|434369|434370|434371|434372|434373|434374|434375|434376|434377|434378|437665|439352|623319|791493|791494|791495|861580|964425|964426|964428|964429|964430", "text": "Osteochondritis dissecans" }, { - "baseId": "29346|29347|29349|29351", + "upstreamId": "29346|29347|29349|29351", "text": "Skin/hair/eye pigmentation 2, red hair/fair skin" }, { - "baseId": "29346|343069|445685|539156|539157|539158", + "upstreamId": "29346|343069|445685|539156|539157|539158", "text": "Skin and Hair Hypopigmentation" }, { - "baseId": 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+ "upstreamId": 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"text": "Cutaneous malignant melanoma 5" }, { - "baseId": "29347|29350", + "upstreamId": "29347|29350", "text": "Skin/hair/eye pigmentation 2, blond hair/fair skin" }, { - "baseId": "29349|29351|242569|401431|422134|445685|467249|467261", + "upstreamId": "29349|29351|242569|401431|422134|445685|467249|467261", "text": "Increased analgesia from kappa-opioid receptor agonist, female-specific" }, { - "baseId": "29349|29351|32633", + "upstreamId": "29349|29351|32633", "text": "OCULOCUTANEOUS ALBINISM, TYPE II, MODIFIER OF" }, { - "baseId": "29352|29353|29354", + "upstreamId": "29352|29353|29354", "text": "Uv-induced skin damage, susceptibility to" }, { - "baseId": "29355|29356|29358|29359|29360|29361|29362|29363|29364|29365|29366|29367|29368|29369|29370|29371|29372|29373|29374|29375|29377|186255|430075|490974|553540|964500|964501", + "upstreamId": "29355|29356|29358|29359|29360|29361|29362|29363|29364|29365|29366|29367|29368|29369|29370|29371|29372|29373|29374|29375|29377|186255|430075|490974|553540|964500|964501", "text": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20" }, { - "baseId": "29357|153362|190849|207488|226431|226432|226433|226434|226435|481029|535227|535398|535399|535401|535403|535404|535405|535406|535407|535408|535409|535410|535411|535412|535413|535414|535415|535416|535419|535422|535425|535426|535428|535430|535431|535432|535433|535434|535435|535436|535439|535440|535441|535442|535444|535446|535447|535448|535450|535451|535452|535453|535454|535455|535456|535458|535460|535461|535464|535466|535467|535468|535469|535470|535471|535472|535473|535475|535476|535477|535478|535479|535484|535488|535489|535491|535494|535495|535498|535501|535504|535505|535506|535507|535510|535511|535512|535513|535514|535515|535516|535517|535518|535519|535520|535521|535522|535523|535524|535525|535526|535527|535531|535532|535533|535534|535536|535537|535538|535539|535541|535543|535544|535545|535547|535548|535553|535554|535555|535556|535558|535559|535560|535561|535562|535564|535565|535566|535570|535571|535573|535574|535575|535576|535577|535578|535581|535582|535583|535584|535586|535588|535589|535590|535591|535592|535593|535594|535595|535596|535597|535598|535600|535601|535602|535603|535604|535608|535610|535611|535613|535615|535616|535617|535618|535619|535620|535621|535622|535623|535626|535627|535629|535630|535632|535633|535634|535635|535637|535639|535640|535641|535642|535644|535645|535646|535648|535649|535653|535654|535655|535656|576146|904233|904234|904237|904238|967239|970337", + "upstreamId": "29357|153362|190849|207488|226431|226432|226433|226434|226435|481029|535227|535398|535399|535401|535403|535404|535405|535406|535407|535408|535409|535410|535411|535412|535413|535414|535415|535416|535419|535422|535425|535426|535428|535430|535431|535432|535433|535434|535435|535436|535439|535440|535441|535442|535444|535446|535447|535448|535450|535451|535452|535453|535454|535455|535456|535458|535460|535461|535464|535466|535467|535468|535469|535470|535471|535472|535473|535475|535476|535477|535478|535479|535484|535488|535489|535491|535494|535495|535498|535501|535504|535505|535506|535507|535510|535511|535512|535513|535514|535515|535516|535517|535518|535519|535520|535521|535522|535523|535524|535525|535526|535527|535531|535532|535533|535534|535536|535537|535538|535539|535541|535543|535544|535545|535547|535548|535553|535554|535555|535556|535558|535559|535560|535561|535562|535564|535565|535566|535570|535571|535573|535574|535575|535576|535577|535578|535581|535582|535583|535584|535586|535588|535589|535590|535591|535592|535593|535594|535595|535596|535597|535598|535600|535601|535602|535603|535604|535608|535610|535611|535613|535615|535616|535617|535618|535619|535620|535621|535622|535623|535626|535627|535629|535630|535632|535633|535634|535635|535637|535639|535640|535641|535642|535644|535645|535646|535648|535649|535653|535654|535655|535656|576146|904233|904234|904237|904238|967239|970337", "text": "Schizophrenia" }, { - "baseId": "29378|29379", + "upstreamId": "29378|29379", "text": "Body mass index quantitative trait locus 9" }, { - "baseId": "29380|29381|29382|29383|190292|265911|268606|270529|316418|316419|323886|323888|323889|323901|323902|323903|323907|323908|329942|329943|329944|329952|331244|331251|331254|331267|331287|331288|331303|331321|331322|738573|869553|869554|869555|869556|869557", + "upstreamId": "29380|29381|29382|29383|190292|265911|268606|270529|316418|316419|323886|323888|323889|323901|323902|323903|323907|323908|329942|329943|329944|329952|331244|331251|331254|331267|331287|331288|331303|331321|331322|738573|869553|869554|869555|869556|869557", "text": "Keutel syndrome" }, { - "baseId": "29384|29385|29386|29387|29388|99967|99968|99969|99970|99971|99972|99973|99974|177841|186941|193509|214749|214750|267163|323389|333058|333059|333061|333064|333065|333067|339899|339900|339903|341308|341310|341315|358317|358318|358319|358320|358321|358322|358323|358324|374745|374746|422045|445420|465180|465426|492216|504950|505805|547571|547575|547577|547581|547586|547589|547592|547603|547609|547835|547840|547843|547850|547854|547855|547856|547858|548259|548262|569151|576168|643546|643547|693741|693742|693743|693744|703338|739777|739778|754675|770342|770343|770344|785015|785016|785017|785018|785019|788159|788165|791484|842706|842707|842708|852071|874169|874170|874171|874172|874173|874174|874175|874176|874177|874178|874179|874180|874181|874182|874183|874184|874185|874186|876573|876574|927425|937075|957511|957512|979661|979662|979663|979664|979665|979666|979667|979668|979669", + "upstreamId": "29384|29385|29386|29387|29388|99967|99968|99969|99970|99971|99972|99973|99974|177841|186941|193509|214749|214750|267163|323389|333058|333059|333061|333064|333065|333067|339899|339900|339903|341308|341310|341315|358317|358318|358319|358320|358321|358322|358323|358324|374745|374746|422045|445420|465180|465426|492216|504950|505805|547571|547575|547577|547581|547586|547589|547592|547603|547609|547835|547840|547843|547850|547854|547855|547856|547858|548259|548262|569151|576168|643546|643547|693741|693742|693743|693744|703338|739777|739778|754675|770342|770343|770344|785015|785016|785017|785018|785019|788159|788165|791484|842706|842707|842708|852071|874169|874170|874171|874172|874173|874174|874175|874176|874177|874178|874179|874180|874181|874182|874183|874184|874185|874186|876573|876574|927425|937075|957511|957512|979661|979662|979663|979664|979665|979666|979667|979668|979669", "text": "MPI-CDG" }, { - "baseId": "29389|29390|29391|310466|310469|310476|310478|310484|310485|310487|310488|310496|310497|310502|310504|315585|315586|315587|315589|315592|315593|315594|315601|315602|315605|315607|315618|315620|315631|321597|321599|321600|321603|321607|321610|321616|321625|321629|321630|321631|321640|321641|322346|322355|322358|322359|322360|322365|322366|322370|322383|322384|353129|389887|620365|752131|865955|865956|865957|865958|865959|865960|865961|865962|865963|865964|865965|865966|865967|865968|865969|865970|865971|865972|865973|865974|865975|865976|865977|865978|865979|865980|865981|865982|865983|865984|868478", + "upstreamId": "29389|29390|29391|310466|310469|310476|310478|310484|310485|310487|310488|310496|310497|310502|310504|315585|315586|315587|315589|315592|315593|315594|315601|315602|315605|315607|315618|315620|315631|321597|321599|321600|321603|321607|321610|321616|321625|321629|321630|321631|321640|321641|322346|322355|322358|322359|322360|322365|322366|322370|322383|322384|353129|389887|620365|752131|865955|865956|865957|865958|865959|865960|865961|865962|865963|865964|865965|865966|865967|865968|865969|865970|865971|865972|865973|865974|865975|865976|865977|865978|865979|865980|865981|865982|865983|865984|868478", "text": "Mannose-binding protein deficiency" }, { - "baseId": "29392", + "upstreamId": "29392", "text": "Epilepsy, idiopathic generalized, susceptibility to" }, { - "baseId": "29393|29394|65630|254635|318061|318063|318068|318077|318080|325987|325989|325990|325992|325994|325995|326001|326004|326021|326027|332239|333739|333742|333744|333746|333750|364277|462367|462368|462635|463083|571950|693248|870195|870196|870197|870198|870199|870200|870201|870202|870203|870204|870205|870206|870207|870208|870209|941036|964396", + "upstreamId": "29393|29394|65630|254635|318061|318063|318068|318077|318080|325987|325989|325990|325992|325994|325995|326001|326004|326021|326027|332239|333739|333742|333744|333746|333750|364277|462367|462368|462635|463083|571950|693248|870195|870196|870197|870198|870199|870200|870201|870202|870203|870204|870205|870206|870207|870208|870209|941036|964396", "text": "Cataract 15, multiple types" }, { - "baseId": "29395|226063|334178|344055|344056|344062|344063|349298|349299|349300|349301|349304|350297|350300|350301|471277|533870|613458|689156|694512|694513|882402|882403|882404|882405|882406|882407|882408|882409|882410|882411|882412|882413|882414|882415|882416|882417|882418|882419|882923", + "upstreamId": "29395|226063|334178|344055|344056|344062|344063|349298|349299|349300|349301|349304|350297|350300|350301|471277|533870|613458|689156|694512|694513|882402|882403|882404|882405|882406|882407|882408|882409|882410|882411|882412|882413|882414|882415|882416|882417|882418|882419|882923", "text": "Cataract 19, multiple types" }, { - "baseId": "29398|29757", + "upstreamId": "29398|29757", "text": "Rheumatoid arthritis, systemic juvenile, susceptibility to" }, { - "baseId": "29399|29400|29401", + "upstreamId": "29399|29400|29401", "text": "Exfoliation syndrome, susceptibility to" }, { - "baseId": "29402", + "upstreamId": "29402", "text": "LYSYL OXIDASE POLYMORPHISM" }, { - "baseId": 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+ "upstreamId": "29403|29404|29405|29406|29407|29408|29409|29410|29411|29412|193408|215017|249371|249372|249373|249375|249376|257908|257910|257912|257913|257914|257916|257919|257920|257921|257923|257924|257927|257935|259623|269140|272765|276139|276146|276155|276156|276157|276159|276160|276162|276163|276187|276190|276195|276206|276420|276426|276427|276431|276432|276433|276438|276448|276456|276464|276734|276736|276781|276783|276797|276813|276815|276817|276818|276820|276831|276832|276836|276837|276841|276860|276912|276913|276924|276925|276929|276951|359198|364317|364389|364398|364410|364414|364417|414724|425304|433837|433838|433839|433840|433841|442596|442597|446906|446916|447022|447025|447028|447033|447036|447037|447039|447044|447045|447058|447060|447062|447118|447119|447124|447125|447128|447136|447143|447146|447147|447151|447152|447153|447155|447157|447158|447160|447162|447195|447199|447205|447208|447212|447214|447219|447220|447222|447224|490197|497983|497984|498020|498022|498024|509088|509089|509090|509091|509092|509097|509098|513487|514996|514999|515001|515003|515004|515006|515009|515010|515011|515012|515019|515023|515025|515065|515066|515068|515072|515084|515087|515090|515101|515104|536561|538940|538941|552030|552031|556514|556566|556568|556599|556601|556603|556605|556882|556883|556885|556887|556889|556891|556893|557123|557160|558005|614549|619946|619947|622298|626695|626696|626697|626698|626699|626700|626701|626702|626703|626704|626705|626706|626707|626708|626709|626710|626711|626712|626713|626714|626715|626717|626723|626724|626725|626726|626727|650524|650525|650612|690349|695000|745608|745610|774359|776986|777009|789827|794389|799104|799105|799106|818841|822599|822600|822602|822603|822604|822605|822606|822607|822608|822609|822610|822611|822612|822613|822617|822618|850718|862097|862098|862099|862100|862117|862119|862120|864965|918547|921605|921606|921607|921608|921609|929997|929998|929999|930000|930001|939769|940598|941399|941400|941401|941402|941403|941404|941405|941406|952034|952035|959520|980432|981216|981217", "text": "Ehlers-Danlos syndrome, hydroxylysine-deficient" }, { - "baseId": "29413|29414|29415|29416|29417|31447|31448|31449|31452|31459|32962|32966|32967|32972|32973|40563|237254|292513|293931|293932|293933|297256|297269|297293|297303|297304|297305|297307|297313|297314|297315|297334|297337|297349|297350|297353|312407|312417|312419|312421|312422|312424|318297|318298|318381|318383|318385|318387|318391|318400|318407|318409|318410|324450|325163|325164|325168|325178|326549|326552|326557|326561|326562|326563|332752|332753|332755|332758|332761|334385|334393|334397|334400|334403|334405|334407|620458|621343|624419|681806|709203|709204|790442|790443|867058|867059|867060|867061|867062|867063|867064|870391|870392|870393|870394|870395|870396|870397|870398|870399|870400|870401|870402|870403|870404|870405|870406|870407|890261|890262|890263|890264|890265|890266|890267|891754|921210|963004", + "upstreamId": "29413|29414|29415|29416|29417|31447|31448|31449|31452|31459|32962|32966|32967|32972|32973|40563|237254|292513|293931|293932|293933|297256|297269|297293|297303|297304|297305|297307|297313|297314|297315|297334|297337|297349|297350|297353|312407|312417|312419|312421|312422|312424|318297|318298|318381|318383|318385|318387|318391|318400|318407|318409|318410|324450|325163|325164|325168|325178|326549|326552|326557|326561|326562|326563|332752|332753|332755|332758|332761|334385|334393|334397|334400|334403|334405|334407|620458|621343|624419|681806|709203|709204|790442|790443|867058|867059|867060|867061|867062|867063|867064|870391|870392|870393|870394|870395|870396|870397|870398|870399|870400|870401|870402|870403|870404|870405|870406|870407|890261|890262|890263|890264|890265|890266|890267|891754|921210|963004", "text": "Familial visceral amyloidosis, Ostertag type" }, { - "baseId": "29420", + "upstreamId": "29420", "text": "Leprosy, early-onset, susceptibility to" }, { - "baseId": "29423|29423|29424|29428|29429|29433|29436|29441|29445|29446|29447|29451|45131|45132|45133|85537|141819|250744|250745|250746|286691|286693|286694|286696|286697|286699|286700|286702|287404|287405|287406|287407|287408|287411|287412|287413|289835|289853|289854|289855|289856|289857|289858|289860|290209|290210|290213|290214|290216|428064|719898|719900|733508|816019|885125|885126|885127|885128|885129|885130|885131|885132|885133|885134|885135|885136|885137|885138|885139|885140|885141|885142|885143|885144|885145|887378|887379", + "upstreamId": "29423|29423|29424|29428|29429|29433|29436|29441|29445|29446|29447|29451|45131|45132|45133|85537|141819|250744|250745|250746|286691|286693|286694|286696|286697|286699|286700|286702|287404|287405|287406|287407|287408|287411|287412|287413|289835|289853|289854|289855|289856|289857|289858|289860|290209|290210|290213|290214|290216|428064|719898|719900|733508|816019|885125|885126|885127|885128|885129|885130|885131|885132|885133|885134|885135|885136|885137|885138|885139|885140|885141|885142|885143|885144|885145|887378|887379", "text": "Gonadotropin-independent familial sexual precocity" }, { - "baseId": "29423|29433", + "upstreamId": "29423|29433", "text": "Precocious puberty in males" }, { - "baseId": "29423|29426|29427|29430|29431|29437|29438|29444|29448|29449|29450|45132|85537|141819|250744|250745|250746|286691|286693|286694|286696|286697|286699|286700|286702|287404|287405|287406|287407|287408|287411|287412|287413|289835|289853|289854|289855|289856|289857|289858|289860|290209|290210|290213|290214|290216|428064|485708|485710|536161|614511|719898|719900|733508|816019|816020|885125|885126|885127|885128|885129|885130|885131|885132|885133|885134|885135|885136|885137|885138|885139|885140|885141|885142|885143|885144|885145|887378|887379", + "upstreamId": "29423|29426|29427|29430|29431|29437|29438|29444|29448|29449|29450|45132|85537|141819|250744|250745|250746|286691|286693|286694|286696|286697|286699|286700|286702|287404|287405|287406|287407|287408|287411|287412|287413|289835|289853|289854|289855|289856|289857|289858|289860|290209|290210|290213|290214|290216|428064|485708|485710|536161|614511|719898|719900|733508|816019|816020|885125|885126|885127|885128|885129|885130|885131|885132|885133|885134|885135|885136|885137|885138|885139|885140|885141|885142|885143|885144|885145|887378|887379", "text": "Leydig cell hypoplasia, type 1" }, { - "baseId": "29427|29431|29437|29438", + "upstreamId": "29427|29431|29437|29438", "text": "Luteinizing hormone resistance, female" }, { - "baseId": "29432", + "upstreamId": "29432", "text": "Leydig hypoplasia, type I" }, { - "baseId": "29435|29439|29443", + "upstreamId": "29435|29439|29443", "text": "Leydig cell hypoplasia, type II" }, { - "baseId": "29440", + "upstreamId": "29440", "text": "Luteinizing hormone/choriogonadotropin receptor, lq variant" }, { - "baseId": "29442", + "upstreamId": "29442", "text": "Leydig cell adenoma, somatic, with male-limited precocious puberty" }, { - "baseId": "29452|29455|187176|187177|187178|187179|508926|508927|508928|508929|806424", + "upstreamId": "29452|29455|187176|187177|187178|187179|508926|508927|508928|508929|806424", "text": "Isolated lutropin deficiency" }, { - "baseId": "29454|29566|32737|38625|38658|38809|38859|39652|39948|40116|44157|44192|45804|45808|45834|45835|48062|48174|48183|48307|48398|48485|48486|48496|48715|48730|49899|51199|57803|59494|65577|65629|70494|70495|71447|71448|75073|75313|75315|75605|76378|76957|76958|76967|76968|79736", + "upstreamId": "29454|29566|32737|38625|38658|38809|38859|39652|39948|40116|44157|44192|45804|45808|45834|45835|48062|48174|48183|48307|48398|48485|48486|48496|48715|48730|49899|51199|57803|59494|65577|65629|70494|70495|71447|71448|75073|75313|75315|75605|76378|76957|76958|76967|76968|79736", "text": "Variant of unknown significance" }, { - "baseId": "29456|305012|308710|308720|313849|313851|313858|313859|313939|313941|711467|736598|899380|899381|899382|899383|899384|899385", + "upstreamId": "29456|305012|308710|308720|313849|313851|313858|313859|313939|313941|711467|736598|899380|899381|899382|899383|899384|899385", "text": "Hypogonadotropic hypogonadism 12 with or without anosmia" }, { - "baseId": "29457|29458|578364", + "upstreamId": "29457|29458|578364", "text": "Vohwinkel syndrome, variant form" }, { - "baseId": "29469", + "upstreamId": "29469", "text": "Long QT syndrome, bradycardia-induced" }, { - "baseId": "29472", + "upstreamId": "29472", "text": "Long QT syndrome 2, acquired, susceptibility to" }, { - "baseId": "29475|29476|78157|78188|78211|78325|78334|78393|78402|78405|78408|78431|78443|197230|197324|197333|302179|361864|361865|369621|389774|395489|395490|396190|456848|818254|833312|919088", + "upstreamId": "29475|29476|78157|78188|78211|78325|78334|78393|78402|78405|78408|78431|78443|197230|197324|197333|302179|361864|361865|369621|389774|395489|395490|396190|456848|818254|833312|919088", "text": "Short QT syndrome 1" }, { - "baseId": "29484", + "upstreamId": "29484", "text": "Thalassemia, gamma-delta-beta" }, { - "baseId": "29485", + "upstreamId": "29485", "text": "Asthma, diminished response to antileukotriene treatment in" }, { - "baseId": "29486", + "upstreamId": "29486", "text": "APOLIPOPROTEIN(a), TYPE C POLYMORPHISM" }, { - "baseId": "29487", + "upstreamId": "29487", "text": "APOLIPOPROTEIN(a), TYPE D POLYMORPHISM" }, { - "baseId": "29488|29489", + "upstreamId": "29488|29489", "text": "Lipoprotein(a) deficiency, congenital" }, { - "baseId": "29490|29491|38731|323001|323007|323011|323013|323017|323020|332614|332619|332620|332624|332633|339537|339544|339553|339560|339564|339566|339577|339578|339582|340947|340951|340955|340956|340963|340965|340966|340970|620524|714509|754560|873915|873916|873917|873918|873919|873920|873921|873922|873923|873924|873925|873926|873927|873928|873929|873930|873931|873932|876546|876547|876548|876549|919584", + "upstreamId": "29490|29491|38731|323001|323007|323011|323013|323017|323020|332614|332619|332620|332624|332633|339537|339544|339553|339560|339564|339566|339577|339578|339582|340947|340951|340955|340956|340963|340965|340966|340970|620524|714509|754560|873915|873916|873917|873918|873919|873920|873921|873922|873923|873924|873925|873926|873927|873928|873929|873930|873931|873932|876546|876547|876548|876549|919584", "text": "Hepatic lipase deficiency" }, { - "baseId": "29492|29493|29494", + "upstreamId": "29492|29493|29494", "text": "High density lipoprotein cholesterol level quantitative trait locus 12" }, { - "baseId": "29495|29670|70804|70805|70806|70807|70808|70809|77430", + "upstreamId": "29495|29670|70804|70805|70806|70807|70808|70809|77430", "text": "Susceptibility to hepatitis C virus" }, { - "baseId": 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+ "upstreamId": 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"text": "Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive" }, { - "baseId": 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+ "upstreamId": 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"text": "St\u00fcve-Wiedemann syndrome" }, { - "baseId": 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+ "upstreamId": "29502|29503|29504|29505|29506|29507|29508|29509|29510|208712|208713|243602|243603|243604|243605|243606|243607|243608|243609|243610|243611|243612|243613|243614|243615|243616|243617|243618|243619|243620|243621|248535|257451|257452|257453|257454|257456|257457|257458|336677|336681|336682|336686|336689|336692|336695|336699|336702|336711|336713|336716|336717|336719|336720|336722|336724|336726|336734|336736|336737|336738|336740|336742|336744|336745|346357|346369|346370|346371|346372|346375|346377|346378|346386|346389|346393|346394|346396|346401|346402|346405|346411|346412|346415|350599|350602|350603|350606|350608|350609|350611|350612|350614|350615|350616|350619|350620|350623|350624|350626|350627|350628|350631|350632|350633|350636|350638|350641|351653|351655|351657|351658|351661|351662|351663|351666|351667|351669|351670|351673|351675|351677|351679|351681|351683|351686|351688|351690|351693|351694|351696|362897|362900|362901|379769|403702|403712|403721|403726|403728|403732|403736|403737|403738|403739|403746|403749|404215|404217|404219|404220|404227|404236|404241|404246|404251|404254|404260|404263|404266|404269|404271|404272|404275|404847|404848|422354|430417|430419|430419|430421|430422|430423|469587|469592|469593|469595|469604|469605|469611|470630|470633|470637|470639|470641|470646|470648|470649|470656|471077|471146|471147|471155|471166|471170|471173|471175|471177|471184|471187|471189|471192|471193|471194|471612|471618|471620|471620|471623|471627|471631|471632|471635|471636|471638|533770|533817|533823|533827|533830|533838|533839|533840|533841|533842|533843|533844|533846|533847|533848|533849|533850|533851|533853|533854|533856|533857|533858|533859|533861|533863|533865|533867|533871|533873|533875|533879|534402|534403|534409|534413|534420|536024|552357|552362|552368|552369|552374|552379|552387|571518|571520|571527|571531|571541|571551|571553|573083|573084|573090|573093|573095|573099|573105|573108|573118|573126|573128|573767|573771|573772|573777|573782|575153|575154|575155|575156|575157|575158|575159|575160|575161|575162|575163|610162|615635|648949|648950|648951|648952|648953|648954|648955|648956|648957|648958|648959|648960|648961|648962|648963|648964|648965|648966|648967|648968|648969|648970|648971|648972|648973|648974|648975|648976|648977|648978|648979|648980|648981|648982|648983|653572|653660|653667|653830|653831|684901|684902|684903|689244|689246|689247|689248|694628|694629|695858|695859|705670|705671|745331|757788|757789|773310|773312|773317|776718|776947|821364|821365|821366|821367|821368|821369|848737|848738|848739|848740|848741|848742|848743|848744|848745|848746|848747|848748|848749|848750|848751|848752|848753|848754|848755|848756|848757|848758|848759|848760|848761|848762|848763|848764|848765|848766|848767|848768|848769|848770|848771|848772|848773|848774|848775|848776|848777|848778|848779|848780|848781|848782|848783|848784|848785|852399|852401|853004|853005|853006|857421|857422|857423|857424|886716|886717|886718|886719|886720|886721|886722|886723|886724|886725|886726|886727|886728|886729|886730|886731|886732|886733|886734|886735|886736|886737|886738|886739|886740|886741|886742|886743|886744|886745|886746|886747|886748|886749|886750|887503|919934|929308|929309|929310|929311|929312|929313|929314|929315|929316|929317|929318|939092|939093|939094|939095|939096|939097|939098|939099|939100|939101|939102|939103|939104|939105|939106|939107|939108|939109|939110|939111|939112|940516|940517|941260|951217|951218|951219|951220|951221|951222|951223|951224|951225|951226|951227|951228|951229|951230|951231|951232|951233|958945|958946|958947|958948|958949|958950|958951|958952|958953|958954|958955|960326|966896", "text": "Familial platelet disorder with associated myeloid malignancy" }, { - "baseId": "29508", + "upstreamId": "29508", "text": "Transient myeloproliferative disorder of Down syndrome" }, { - "baseId": "29508", + "upstreamId": "29508", "text": "Leukemia, acute myeloid, m0 subtype" }, { - "baseId": "29513|29514|77643|205534|964520", + "upstreamId": "29513|29514|77643|205534|964520", "text": "Acquired partial lipodystrophy" }, { - "baseId": "29513|29513|77643|205535|430166|430167|430168|468600|469514|469515|469516|469524|469526|469527|469977|469987|469989|469991|469992|469994|470001|470569|470579|470583|470590|532795|532797|532801|532803|532804|532807|532809|532813|532815|532816|532817|532824|532825|532828|532834|532870|532877|532879|533249|533253|533256|570621|570625|570632|572311|572318|572319|572321|572994|572996|572997|572999|574924|574925|574926|574927|574928|647869|647870|647871|647872|647873|647874|647875|647876|647877|647878|647879|647880|647881|647882|647883|647884|647885|647886|647887|647888|647889|647890|647891|647892|704887|704888|704889|704890|704891|716334|728079|728080|728081|745066|745228|756882|756883|756884|756885|756886|772556|772561|772563|776690|786126|793776|821246|847468|847469|847470|847471|847472|847473|847474|847475|847476|847477|847478|847479|847480|847481|847482|847483|928906|928907|928908|928909|928910|938624|938625|950726|950727|950728|950729|950730|950731|958584|958585|958586|958587|958588|958589", + "upstreamId": "29513|29513|77643|205535|430166|430167|430168|468600|469514|469515|469516|469524|469526|469527|469977|469987|469989|469991|469992|469994|470001|470569|470579|470583|470590|532795|532797|532801|532803|532804|532807|532809|532813|532815|532816|532817|532824|532825|532828|532834|532870|532877|532879|533249|533253|533256|570621|570625|570632|572311|572318|572319|572321|572994|572996|572997|572999|574924|574925|574926|574927|574928|647869|647870|647871|647872|647873|647874|647875|647876|647877|647878|647879|647880|647881|647882|647883|647884|647885|647886|647887|647888|647889|647890|647891|647892|704887|704888|704889|704890|704891|716334|728079|728080|728081|745066|745228|756882|756883|756884|756885|756886|772556|772561|772563|776690|786126|793776|821246|847468|847469|847470|847471|847472|847473|847474|847475|847476|847477|847478|847479|847480|847481|847482|847483|928906|928907|928908|928909|928910|938624|938625|950726|950727|950728|950729|950730|950731|958584|958585|958586|958587|958588|958589", "text": "Epilepsy, progressive myoclonic, 9" }, { - "baseId": "29513|77643|430166|430167|430168|468600|469514|469515|469516|469524|469526|469527|469977|469987|469989|469991|469992|469994|470001|470569|470579|470583|470590|532795|532797|532801|532803|532804|532807|532809|532813|532815|532816|532817|532824|532825|532828|532834|532870|532877|532879|533249|533253|533256|570621|570625|570632|572311|572318|572319|572321|572994|572996|572997|572999|574924|574925|574926|574927|574928|647869|647870|647871|647872|647873|647874|647875|647876|647877|647878|647879|647880|647881|647882|647883|647884|647885|647886|647887|647888|647889|647890|647891|647892|704887|704888|704889|704890|704891|716334|728079|728080|728081|745066|745228|756882|756883|756884|756885|756886|772556|772561|772563|776690|786126|793776|821246|847468|847469|847470|847471|847472|847473|847474|847475|847476|847477|847478|847479|847480|847481|847482|847483|928906|928907|928908|928909|928910|938624|938625|950726|950727|950728|950729|950730|950731|958584|958585|958586|958587|958588|958589", + "upstreamId": "29513|77643|430166|430167|430168|468600|469514|469515|469516|469524|469526|469527|469977|469987|469989|469991|469992|469994|470001|470569|470579|470583|470590|532795|532797|532801|532803|532804|532807|532809|532813|532815|532816|532817|532824|532825|532828|532834|532870|532877|532879|533249|533253|533256|570621|570625|570632|572311|572318|572319|572321|572994|572996|572997|572999|574924|574925|574926|574927|574928|647869|647870|647871|647872|647873|647874|647875|647876|647877|647878|647879|647880|647881|647882|647883|647884|647885|647886|647887|647888|647889|647890|647891|647892|704887|704888|704889|704890|704891|716334|728079|728080|728081|745066|745228|756882|756883|756884|756885|756886|772556|772561|772563|776690|786126|793776|821246|847468|847469|847470|847471|847472|847473|847474|847475|847476|847477|847478|847479|847480|847481|847482|847483|928906|928907|928908|928909|928910|938624|938625|950726|950727|950728|950729|950730|950731|958584|958585|958586|958587|958588|958589", "text": "Lipodystrophy, partial, acquired, susceptibility to" }, { - "baseId": "29515|77509|77510|77511|77512|134932|295100|295102|295107|296929|296930|296931|296937|296938|296939|296940|300561|300563|300566|300682|300700|300701|300702|300704|300706|300712|300718|892733|892734|892735|892736|892737|892738|892739|892740|892741|892742|892743|892744|892745|892746|892747|892748|896022|918915", + "upstreamId": "29515|77509|77510|77511|77512|134932|295100|295102|295107|296929|296930|296931|296937|296938|296939|296940|300561|300563|300566|300682|300700|300701|300702|300704|300706|300712|300718|892733|892734|892735|892736|892737|892738|892739|892740|892741|892742|892743|892744|892745|892746|892747|892748|896022|918915", "text": "Leukodystrophy, adult-onset, autosomal dominant" }, { - "baseId": "29516|29517|29520|29521|29529|29530|29531|29534|29547|29550|29553|29563|29564|45141|45142|49658|57201|57207|57208|57212|57226|57227|57235|57242|57250|57252|77677|77746|77751|77815|77822|77828|172488|172489|196270|196461|196463|205007|213515|224183|226437|237758|238151|244232|276591|276609|276614|276876|277432|277441|277446|277453|277461|277537|481410|509122|556620|576413|609160|626918|672030|685575|822799|862419|862420|862421|862422|862423|864995", + "upstreamId": "29516|29517|29520|29521|29529|29530|29531|29534|29547|29550|29553|29563|29564|45141|45142|49658|57201|57207|57208|57212|57226|57227|57235|57242|57250|57252|77677|77746|77751|77815|77822|77828|172488|172489|196270|196461|196463|205007|213515|224183|226437|237758|238151|244232|276591|276609|276614|276876|277432|277441|277446|277453|277461|277537|481410|509122|556620|576413|609160|626918|672030|685575|822799|862419|862420|862421|862422|862423|864995", "text": "Emery-Dreifuss muscular dystrophy 2, autosomal dominant" }, { - "baseId": "29517|57238|77759|213515|964644", + "upstreamId": "29517|57238|77759|213515|964644", "text": "Limb-girdle muscular dystrophy, type 1B" }, { - "baseId": "29518|29520|29525|29527|29528|29529|29532|29533|29556|29557|29558|45141|45142|57201|57207|57208|57212|57226|57227|57235|57242|57250|57252|57256|77659|77677|77726|77730|77747|77765|77775|77785|172488|172489|196270|196461|196463|224183|226437|238151|244232|276591|276609|276614|276876|277432|277441|277446|277453|277461|277537|509122|556620|576413|626918|685575|862419|862420|862421|862422|862423|864995", + "upstreamId": "29518|29520|29525|29527|29528|29529|29532|29533|29556|29557|29558|45141|45142|57201|57207|57208|57212|57226|57227|57235|57242|57250|57252|57256|77659|77677|77726|77730|77747|77765|77775|77785|172488|172489|196270|196461|196463|224183|226437|238151|244232|276591|276609|276614|276876|277432|277441|277446|277453|277461|277537|509122|556620|576413|626918|685575|862419|862420|862421|862422|862423|864995", "text": "Familial partial lipodystrophy 2" }, { - "baseId": "29525|45135|57241|172880|196467|228276", + "upstreamId": "29525|45135|57241|172880|196467|228276", "text": "Laminopathy" }, { - "baseId": "29525|29531|49658", + "upstreamId": "29525|29531|49658", "text": "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" }, { - "baseId": "29526|29529|29538|29548|29552|29561|45141|45142|57201|57207|57208|57212|57226|57227|57235|57242|57250|57252|77677|106555|172488|172489|196270|196461|196463|224183|226437|238151|244232|276591|276609|276614|276876|277432|277441|277446|277453|277461|277537|509122|556620|576413|626918|685575|862419|862420|862421|862422|862423|864995", + "upstreamId": "29526|29529|29538|29548|29552|29561|45141|45142|57201|57207|57208|57212|57226|57227|57235|57242|57250|57252|77677|106555|172488|172489|196270|196461|196463|224183|226437|238151|244232|276591|276609|276614|276876|277432|277441|277446|277453|277461|277537|509122|556620|576413|626918|685575|862419|862420|862421|862422|862423|864995", "text": "Mandibuloacral dysplasia with type A lipodystrophy" }, { - "baseId": "29526|29529|29537|29539|29539|29540|29541|29555|31619|45141|45142|57201|57207|57208|57212|57226|57227|57235|57242|57250|57252|77677|77699|77746|77755|77766|77776|137877|137889|172110|172111|172112|172113|172114|172115|172116|172117|172118|172488|172489|189381|196270|196461|196463|205007|224183|226437|238151|244232|276591|276601|276609|276610|276614|276876|277430|277432|277433|277434|277441|277445|277446|277447|277453|277456|277461|277537|353062|509122|552036|556620|576413|613483|626918|672030|685575|789856|862419|862420|862421|862422|862423|864995", + "upstreamId": "29526|29529|29537|29539|29539|29540|29541|29555|31619|45141|45142|57201|57207|57208|57212|57226|57227|57235|57242|57250|57252|77677|77699|77746|77755|77766|77776|137877|137889|172110|172111|172112|172113|172114|172115|172116|172117|172118|172488|172489|189381|196270|196461|196463|205007|224183|226437|238151|244232|276591|276601|276609|276610|276614|276876|277430|277432|277433|277434|277441|277445|277446|277447|277453|277456|277461|277537|353062|509122|552036|556620|576413|613483|626918|672030|685575|789856|862419|862420|862421|862422|862423|864995", "text": "Hutchinson-Gilford syndrome" }, { - "baseId": "29527|29546|181469", + "upstreamId": "29527|29546|181469", "text": "Hutchinson-Gilford progeria syndrome, childhood-onset" }, { - "baseId": "29528|29556|276601|276610|277430|277433|277434|277445|277447|277456|353062", + "upstreamId": "29528|29556|276601|276610|277430|277433|277434|277445|277447|277456|353062", "text": "Familial partial lipodystrophy" }, { - "baseId": "29529|45141|45142|57201|57207|57208|57212|57226|57227|57235|57242|57250|57252|77677|172488|172489|196270|196461|196463|224183|226437|238151|244232|276591|276601|276609|276610|276614|276876|277430|277432|277433|277434|277441|277445|277446|277447|277453|277456|277461|277537|353062|509122|556620|576413|626918|685575|862419|862420|862421|862422|862423|864995", + "upstreamId": "29529|45141|45142|57201|57207|57208|57212|57226|57227|57235|57242|57250|57252|77677|172488|172489|196270|196461|196463|224183|226437|238151|244232|276591|276601|276609|276610|276614|276876|277430|277432|277433|277434|277441|277445|277446|277447|277453|277456|277461|277537|353062|509122|556620|576413|626918|685575|862419|862420|862421|862422|862423|864995", "text": "Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardiomyopathy, and Leukomelanodermic Papules" }, { - "baseId": "29529|29537|45141|45142|57201|57207|57208|57212|57226|57227|57235|57242|57250|57252|77677|77828|172488|172489|196270|196461|196463|224183|226437|238151|244232|276591|276609|276614|276876|277432|277441|277446|277453|277461|277537|509122|556620|576413|626918|626927|672030|685575|862419|862420|862421|862422|862423|864995", + "upstreamId": "29529|29537|45141|45142|57201|57207|57208|57212|57226|57227|57235|57242|57250|57252|77677|77828|172488|172489|196270|196461|196463|224183|226437|238151|244232|276591|276609|276614|276876|277432|277441|277446|277453|277461|277537|509122|556620|576413|626918|626927|672030|685575|862419|862420|862421|862422|862423|864995", "text": "Charcot-Marie-Tooth disease type 2B1" }, { - "baseId": 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+ "upstreamId": 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"text": "Emery-Dreifuss muscular dystrophy" }, { - "baseId": "29529|29549|29562|29563|29564|45137|45141|45142|57201|57207|57208|57212|57226|57227|57235|57242|57250|57252|77677|77759|77857|172488|172489|196270|196461|196463|213515|215103|224183|226437|238151|244232|269995|276591|276601|276609|276610|276614|276876|277430|277432|277433|277434|277441|277445|277446|277447|277453|277456|277461|277537|353062|447227|509122|513494|552035|552036|556620|576413|578366|626918|672030|685575|792654|862419|862420|862421|862422|862423|864995", + "upstreamId": "29529|29549|29562|29563|29564|45137|45141|45142|57201|57207|57208|57212|57226|57227|57235|57242|57250|57252|77677|77759|77857|172488|172489|196270|196461|196463|213515|215103|224183|226437|238151|244232|269995|276591|276601|276609|276610|276614|276876|277430|277432|277433|277434|277441|277445|277446|277447|277453|277456|277461|277537|353062|447227|509122|513494|552035|552036|556620|576413|578366|626918|672030|685575|792654|862419|862420|862421|862422|862423|864995", "text": "Congenital muscular dystrophy, LMNA-related" }, { - "baseId": "29537|540444|540463", + "upstreamId": "29537|540444|540463", "text": "Autosomal recessive axonal hereditary motor and sensory neuropathy" }, { - "baseId": "29538|29542|29556|29559", + "upstreamId": "29538|29542|29556|29559", "text": "Mandibuloacral dysplasia with type A lipodystrophy, atypical" }, { - "baseId": "29538|276601|276610|277430|277433|277434|277445|277447|277456|280484|280486|280881|280882|282234|282235|282236|282440|353062", + "upstreamId": "29538|276601|276610|277430|277433|277434|277445|277447|277456|280484|280486|280881|280882|282234|282235|282236|282440|353062", "text": "Mandibuloacral dysplasia" }, { - "baseId": "29541|172113|172117|214091", + "upstreamId": "29541|172113|172117|214091", "text": "Hutchinson-Gilford progeria syndrome, atypical" }, { - "baseId": "29545|33496", + "upstreamId": "29545|33496", "text": "Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome" }, { - "baseId": 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+ "upstreamId": 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"text": "Pierson syndrome" }, { - "baseId": 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+ "upstreamId": 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"text": "Nephrotic syndrome, type 5, with or without ocular abnormalities" }, { - "baseId": "29578|29580|178844|178845|178846|359226|380444|380445|540778", + "upstreamId": "29578|29580|178844|178845|178846|359226|380444|380445|540778", "text": "Amelogenesis imperfecta, type IA" }, { - "baseId": 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+ "upstreamId": "29578|29598|33855|192407|192764|249573|249574|249575|249576|249577|249578|249579|249580|249679|249680|249681|249682|249683|249684|249685|249688|249689|249691|249694|249695|259645|267151|267281|271754|274805|274810|274811|274812|277638|277645|277650|277651|277652|277667|277671|277672|277673|277674|277675|277685|277686|277693|277696|277707|277720|277723|277724|277742|277744|277747|277748|277781|277785|277786|277792|277793|277794|277795|277802|277808|277809|277811|277812|277814|277818|277819|277824|277827|277828|277836|277838|277839|278632|278634|278635|278636|278641|278642|278647|278649|278650|278654|278655|278660|278661|278663|278667|278669|278670|278671|278674|278675|278677|278681|278682|278683|278685|278688|278689|278691|278706|278713|278715|278717|278728|278729|278732|278737|278751|278753|278760|278762|278763|278764|278765|278768|278769|278777|278778|278781|278782|278783|278785|278787|278790|278791|278793|278795|278796|278797|278798|278800|278802|278803|278805|278810|278811|278812|278815|278816|278817|278819|278822|278823|278824|278827|278828|278829|278832|278833|278834|278839|278840|278847|278872|278874|278875|278876|278878|278881|279961|279968|279970|279974|279975|279986|279987|279994|279995|280018|280028|280029|280031|280033|280034|280035|280036|280037|280038|280040|280041|280042|280043|280065|280073|280082|280084|280098|280100|280101|280104|280106|280116|280139|280143|280144|280149|280155|280157|280158|309388|314061|320009|320493|320507|330874|330883|346751|353088|353089|357035|357037|357051|405022|497058|540686|540748|540776|620709|621706|654177|696310|696430|707057|707058|718592|731907|731912|732073|745880|745883|746041|746043|746048|761372|761376|761504|761508|761510|761511|761518|761520|761527|780466|862909|862910|862911|862912|862913|862914|862915|862916|862917|862918|862919|862920|862921|862922|862923|862924|862925|862926|862927|862928|862929|862930|862931|862932|862933|862934|862935|862936|862937|862938|862939|862940|862941|862942|862943|863390|863391|863392|863393|863394|863395|863396|863397|863398|863399|863400|863401|863402|863403|863404|863405|863406|863407|863408|863409|863410|863411|863412|863413|863414|863415|863416|863417|863418|863419|863420|863421|865044|865045|865046|865102|865103|865104|865105|961860", "text": "Junctional epidermolysis bullosa" }, { - "baseId": "29601|29602|29603|29604|316663|316669|316672|324147|330140|330141|330143|330146|330147|330150|330161|330162|331552|331554|331555|331566|331567|331580|620439|869660|869661|869662|869663|869664|869665|869666|869667|869668|872226|872227", + "upstreamId": "29601|29602|29603|29604|316663|316669|316672|324147|330140|330141|330143|330146|330147|330150|330161|330162|331552|331554|331555|331566|331567|331580|620439|869660|869661|869662|869663|869664|869665|869666|869667|869668|872226|872227", "text": "Lactate dehydrogenase B deficiency" }, { - "baseId": "29605|29606|313482|313484|313490|313498|313501|313504|313512|313513|313517|319675|319681|319682|319684|319686|319720|319721|319724|325801|325802|325814|325834|325846|325848|325850|326868|326870|372321|374007|374008|461354|526157|549649|620397|851835|867701|867702|867703|867704|867705|867706|867707|867710|867711|867712|867713|867714|867715|867716|867717|867718|867719|867720|867721|868634|935454|964911", + "upstreamId": "29605|29606|313482|313484|313490|313498|313501|313504|313512|313513|313517|319675|319681|319682|319684|319686|319720|319721|319724|325801|325802|325814|325834|325846|325848|325850|326868|326870|372321|374007|374008|461354|526157|549649|620397|851835|867701|867702|867703|867704|867705|867706|867707|867710|867711|867712|867713|867714|867715|867716|867717|867718|867719|867720|867721|868634|935454|964911", "text": "Glycogen storage disease XI" }, { - "baseId": "29607|29608|29609|29610|29611|29612|29613|29614|29615|29615|29616|29617|29618|30946|30947|30948|30952|30953|30954|38719|38720|38721|77056|77518|77520|77556|77561|317865|317866|317877|317878|317884|317886|317888|317890|317901|317902|325742|325744|325757|325760|331990|331994|331999|332000|332003|332006|332018|332032|332034|333500|333506|333512|333518|360854|870136|870137|870138|870139|870140|870141|870142|870143|872262", + "upstreamId": "29607|29608|29609|29610|29611|29612|29613|29614|29615|29615|29616|29617|29618|30946|30947|30948|30952|30953|30954|38719|38720|38721|77056|77518|77520|77556|77561|317865|317866|317877|317878|317884|317886|317888|317890|317901|317902|325742|325744|325757|325760|331990|331994|331999|332000|332003|332006|332018|332032|332034|333500|333506|333512|333518|360854|870136|870137|870138|870139|870140|870141|870142|870143|872262", "text": "Bullous ichthyosiform erythroderma" }, { - "baseId": "29615|29619|30950|30951|977257", + "upstreamId": "29615|29619|30950|30951|977257", "text": "Ichthyosis, cyclic, with epidermolytic hyperkeratosis" }, { - "baseId": "29615|29620|29621|29622|29623|539150", + "upstreamId": "29615|29620|29621|29622|29623|539150", "text": "Erythroderma, ichthyosiform, congenital reticular" }, { - "baseId": "29624|29669|29670", + "upstreamId": "29624|29669|29670", "text": "Cirrhosis, cryptogenic" }, { - "baseId": "29624|29669", + "upstreamId": "29624|29669", "text": "Cirrhosis, noncryptogenic, susceptibility to" }, { - "baseId": "29625|29626|29627|29629|29630|29631|29632|29633|29634|29635|29637|29638|260166|508877", + "upstreamId": "29625|29626|29627|29629|29630|29631|29632|29633|29634|29635|29637|29638|260166|508877", "text": "Pachyonychia congenita 2" }, { - "baseId": "29626", + "upstreamId": "29626", "text": "Pachyonychia congenita syndrome" }, { - "baseId": "29628|29629|29630", + "upstreamId": "29628|29629|29630", "text": "Steatocystoma multiplex" }, { - "baseId": "29639|29640|29641|29641|29642|29643|29644|29645|29646|29647|29648|77505|165833|213644|578544", + "upstreamId": "29639|29640|29641|29641|29642|29643|29644|29645|29646|29647|29648|77505|165833|213644|578544", "text": "Pachyonychia congenita 1" }, { - "baseId": "29640|29641|29641|29649|77863|132049", + "upstreamId": "29640|29641|29641|29649|77863|132049", "text": "Palmoplantar keratoderma, nonepidermolytic, focal" }, { - "baseId": "29650|29656|29678|29680|29682|29685|29691|77110|259239|259240|259241|354282|432310", + "upstreamId": "29650|29656|29678|29680|29682|29685|29691|77110|259239|259240|259241|354282|432310", "text": "Epidermolysis bullosa simplex, Koebner type" }, { - "baseId": "29651|29652|29658|29660|29661|29662|29667|29677|29684|29689|34026|260024", + "upstreamId": "29651|29652|29658|29660|29661|29662|29667|29677|29684|29689|34026|260024", "text": "Epidermolysis bullosa simplex Dowling-Meara type" }, { - "baseId": "29651|77095|77110|77120|77121|77131|77161|77172|77174|77179|77180|236895|254617|254618|254619|254620|317780|317783|317788|317792|317796|317797|317799|317801|317804|317805|317806|317814|317816|317817|325682|325688|325689|325698|331905|331909|331911|331912|331913|331914|331927|331928|333432|333436|333437|333440|333443|333444|333449|333456|333460|612096|713585|870102|870103|870104|870105|870106|870107|870108|870109|870110|870111|870112|870113|870114|870115|870116|870117|870118|872259", + "upstreamId": "29651|77095|77110|77120|77121|77131|77161|77172|77174|77179|77180|236895|254617|254618|254619|254620|317780|317783|317788|317792|317796|317797|317799|317801|317804|317805|317806|317814|317816|317817|325682|325688|325689|325698|331905|331909|331911|331912|331913|331914|331927|331928|333432|333436|333437|333440|333443|333444|333449|333456|333460|612096|713585|870102|870103|870104|870105|870106|870107|870108|870109|870110|870111|870112|870113|870114|870115|870116|870117|870118|872259", "text": "Epidermolysis bullosa simplex" }, { - "baseId": "29653|29655|29659|29696|29697|77234|77266|77278|77282", + "upstreamId": "29653|29655|29659|29696|29697|77234|77266|77278|77282", "text": "Epidermolysis bullosa simplex, autosomal recessive" }, { - "baseId": "29659|29679|29680|29681|29683|29690|29696|29780|34026|77123|77195|77198|227396|329900|919771", + "upstreamId": "29659|29679|29680|29681|29683|29690|29696|29780|34026|77123|77195|77198|227396|329900|919771", "text": "Localized epidermolysis bullosa simplex" }, { - "baseId": "29665", + "upstreamId": "29665", "text": "Dermatopathia pigmentosa reticularis" }, { - "baseId": "29668|77648|328354|328355|328356|328358|328361|328364|328365|328369|328372|328374|328375|338262|338266|338278|338280|338282|338283|338291|338294|338301|338305|338307|338308|344363|344366|344368|344369|344370|344378|344379|344382|345799|345802|345803|345804|345807|345813|345815|345816|877404|877405|877406|877407|877408|877409|877410|877411|877412|877413|877414|877415|877416|877417|877418|877419", + "upstreamId": "29668|77648|328354|328355|328356|328358|328361|328364|328365|328369|328372|328374|328375|338262|338266|338278|338280|338282|338283|338291|338294|338301|338305|338307|338308|344363|344366|344368|344369|344370|344378|344379|344382|345799|345802|345803|345804|345807|345813|345815|345816|877404|877405|877406|877407|877408|877409|877410|877411|877412|877413|877414|877415|877416|877417|877418|877419", "text": "White sponge nevus 2" }, { - "baseId": "29671|77645|77646", + "upstreamId": "29671|77645|77646", "text": "Meesmann corneal dystrophy 2" }, { - "baseId": "29672|791259|804902", + "upstreamId": "29672|791259|804902", "text": "Pachyonychia congenita 4" }, { - "baseId": "29673|29674|29675|29676|77473|77482|77483|77485|77486|77488|165831|816294|920318", + "upstreamId": "29673|29674|29675|29676|77473|77482|77483|77485|77486|77488|165831|816294|920318", "text": "Pachyonychia congenita 3" }, { - "baseId": "29686|77132|970970", + "upstreamId": "29686|77132|970970", "text": "Dowling-Degos disease 1" }, { - "baseId": "29687|34026", + "upstreamId": "29687|34026", "text": "Epidermolysis bullosa simplex with mottled pigmentation" }, { - "baseId": "29692", + "upstreamId": "29692", "text": "Epidermolysis bullosa simplex, Dowling-Meara type, with severe palmoplantar keratoderma" }, { - "baseId": "29693", + "upstreamId": "29693", "text": "Epidermolysis bullosa simplex, generalized, with severe palmoplantar keratosis" }, { - "baseId": "29694", + "upstreamId": "29694", "text": "Epidermolysis bullosa simplex with migratory circinate erythema" }, { - "baseId": "29698", + "upstreamId": "29698", "text": "Kallikrein, decreased urinary activity of" }, { - "baseId": "29699", + "upstreamId": "29699", "text": "Soluble interleukin-6 receptor, serum level of, quantitative trait locus" }, { - "baseId": "29699", + "upstreamId": "29699", "text": "Interleukin 6, serum level of, quantitative trait locus" }, { - "baseId": "29701|362909|576133", + "upstreamId": "29701|362909|576133", "text": "Polycythemia vera" }, { - "baseId": "29701", + "upstreamId": "29701", "text": "Budd-Chiari syndrome, susceptibility to, somatic" }, { - "baseId": "29701|38718|138296|576133", + "upstreamId": "29701|38718|138296|576133", "text": "Thrombocythemia 3" }, { - "baseId": "29701|31634|31635|31636|31637|31638|31639|31640|39403|263756|263757|263758|332494|332495|332497|332499|332503|332504|332505|332510|332512|342718|342720|342721|342723|342728|342731|342732|348066|348067|348074|348076|348085|348086|349347|349349|349350|349351|349352|349355|349356|493110|611368|727892|879869|879870|879871|879872|879873|879874|879875|879876|879877|879878|879879|879880|879881|879882|879883|879884|879885|880689|880690", + "upstreamId": "29701|31634|31635|31636|31637|31638|31639|31640|39403|263756|263757|263758|332494|332495|332497|332499|332503|332504|332505|332510|332512|342718|342720|342721|342723|342728|342731|342732|348066|348067|348074|348076|348085|348086|349347|349349|349350|349351|349352|349355|349356|493110|611368|727892|879869|879870|879871|879872|879873|879874|879875|879876|879877|879878|879879|879880|879881|879882|879883|879884|879885|880689|880690", "text": "Primary familial polycythemia due to EPO receptor mutation" }, { - "baseId": "29701|31381|362830|363045|363095|363584|363585|801063|857631", + "upstreamId": "29701|31381|362830|363045|363095|363584|363585|801063|857631", "text": "Myeloproliferative disorder" }, { - "baseId": "29701", + "upstreamId": "29701", "text": "Subacute lymphoid leukemia" }, { - "baseId": "29701|171079", + "upstreamId": "29701|171079", "text": "Polycythemia (disease)" }, { - "baseId": "29703", + "upstreamId": "29703", "text": "ERYTHROCYTOSIS, JAK2-RELATED, SOMATIC" }, { - "baseId": "29704", + "upstreamId": "29704", "text": "Atopy, susceptibility to" }, { - "baseId": "29705|29706", + "upstreamId": "29705|29706", "text": "Atopy, resistance to" }, { - "baseId": "29705", + "upstreamId": "29705", "text": "Acquired immunodeficiency syndrome, slow progression to" }, { - "baseId": "29707|199915|199916|199917|199918|266233|266237|310549|310556|310559|310573|310579|310580|310592|310594|315708|315709|315710|315719|315720|315721|315722|315725|315726|315731|321766|321771|321772|321786|321793|321794|321801|321805|321806|321809|321815|321817|321820|321821|321833|321834|321841|321842|321846|322449|322461|322463|322466|322467|322468|322475|322478|322479|322480|322483|322497|322499|322503|322504|322505|353130|425881|459939|460364|525187|525193|525376|564622|566349|569683|569689|614349|614349|620822|638977|638978|638979|638980|638981|638982|638983|638984|652140|652142|723992|723997|737543|759979|767836|783648|790969|820224|836986|836987|836988|836989|836990|866011|866012|866013|866014|866015|866016|866017|866018|866019|866020|866021|866022|866023|866024|866025|866026|866027|866028|866029|866030|866031|866032|866033|866034|866035|866036|866037|868481|868482|868483|925838|925839|925840|946952|946953|956112|956113", + "upstreamId": "29707|199915|199916|199917|199918|266233|266237|310549|310556|310559|310573|310579|310580|310592|310594|315708|315709|315710|315719|315720|315721|315722|315725|315726|315731|321766|321771|321772|321786|321793|321794|321801|321805|321806|321809|321815|321817|321820|321821|321833|321834|321841|321842|321846|322449|322461|322463|322466|322467|322468|322475|322478|322479|322480|322483|322497|322499|322503|322504|322505|353130|425881|459939|460364|525187|525193|525376|564622|566349|569683|569689|614349|614349|620822|638977|638978|638979|638980|638981|638982|638983|638984|652140|652142|723992|723997|737543|759979|767836|783648|790969|820224|836986|836987|836988|836989|836990|866011|866012|866013|866014|866015|866016|866017|866018|866019|866020|866021|866022|866023|866024|866025|866026|866027|866028|866029|866030|866031|866032|866033|866034|866035|866036|866037|868481|868482|868483|925838|925839|925840|946952|946953|956112|956113", "text": "Interleukin 2 receptor, alpha, deficiency of" }, { - "baseId": "29708", + "upstreamId": "29708", "text": "TYPE 1 DIABETES MELLITUS, INSULIN-DEPENDENT, 10" }, { - "baseId": "29709|614349", + "upstreamId": "29709|614349", "text": "Diabetes mellitus, insulin-dependent, 10" }, { - "baseId": "29710|29713", + "upstreamId": "29710|29713", "text": "Gastric cancer susceptibility after h. pylori infection" }, { - "baseId": "29712", + "upstreamId": "29712", "text": "Allergic rhinitis, susceptibility to" }, { - "baseId": "29713", + "upstreamId": "29713", "text": "Microvascular complications of diabetes 4" }, { - "baseId": "29714|29715|29716|29717|281612|281619|281620|281623|281625|281629|281631|282290|282294|282295|282296|282300|282302|283641|283643|283652|283653|283658|283664|283679|283680|283681|283682|283695|283700|283709|283712|283874|283875|283884|283906|283922|283926|448759|516305|516313|516317|516358|516359|550254|557490|557492|558703|558705|559188|628416|628417|628418|628419|732721|746742|762163|774568|780809|798957|816305|819044|824720|824721|880876|880877|880878|880879|880880|880881|880882|880883|882784|882785|922228|922229|942214|942215|942216|942217", + "upstreamId": "29714|29715|29716|29717|281612|281619|281620|281623|281625|281629|281631|282290|282294|282295|282296|282300|282302|283641|283643|283652|283653|283658|283664|283679|283680|283681|283682|283695|283700|283709|283712|283874|283875|283884|283906|283922|283926|448759|516305|516313|516317|516358|516359|550254|557490|557492|558703|558705|559188|628416|628417|628418|628419|732721|746742|762163|774568|780809|798957|816305|819044|824720|824721|880876|880877|880878|880879|880880|880881|880882|880883|882784|882785|922228|922229|942214|942215|942216|942217", "text": "Osteomyelitis, sterile multifocal, with periostitis and pustulosis" }, { - "baseId": 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+ "upstreamId": 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"text": "Insulin-resistant diabetes mellitus AND acanthosis nigricans" }, { - "baseId": "29719|29720|29721|29725|29728|29732|29738|29740|29741|29742|29744|29745|29746|29749|29750|29753|190228|190728|191864|191865|192203|195858|208629|208630|208634|208636|208637|208639|208640|266492|273448|334529|334531|334532|334533|334537|334540|334542|334544|334546|334548|334556|334557|334558|334561|334574|334575|334577|334580|334582|334585|334587|334591|334593|334595|334603|334604|334608|334611|334614|334616|334631|334632|334648|334652|334655|334664|334665|334666|344387|344388|344391|344402|344403|344404|344415|344416|344419|344427|344429|344436|344438|344443|344445|344450|344451|344455|344457|344461|344463|344466|344468|344470|344472|344473|344474|344475|344483|344484|344486|344495|344496|344498|344500|344502|344504|344506|349475|349476|349478|349480|349481|349483|349484|349486|349487|349488|349490|349492|349493|349496|349499|349500|349502|349503|349504|349506|349509|349512|349514|349519|349522|349523|349526|349529|349530|349537|349538|349540|350477|350479|350480|350483|350484|350487|350489|350491|350493|350495|350496|350497|350502|350506|350507|350511|350514|350517|350519|350520|350523|350526|350531|350536|350539|350540|350543|350544|350546|350547|350549|350550|353528|353529|430269|430271|430272|430276|493723|495914|495915|540035|540035|583525|584427|619930|619931|716760|745301|757309|757316|757317|757318|786303|882612|882613|882614|882615|882616|882617|882618|882619|882620|882621|882622|882623|882624|882625|882626|882627|882628|882629|882630|882631|882632|882633|882634|882635|882636|882637|882638|882639|882640|882641|882642|882643|882644|882645|882646|882647|882648|882649|882650|882651|882652|882653|882654|882655|882656|882657|882658|882659|882660|882661|882662|882663|882664|882665|882666|882667|882668|882669|882670|882671|882672|882673|882674|882675|882676|882677|882678|882954|882955|904884", + "upstreamId": "29719|29720|29721|29725|29728|29732|29738|29740|29741|29742|29744|29745|29746|29749|29750|29753|190228|190728|191864|191865|192203|195858|208629|208630|208634|208636|208637|208639|208640|266492|273448|334529|334531|334532|334533|334537|334540|334542|334544|334546|334548|334556|334557|334558|334561|334574|334575|334577|334580|334582|334585|334587|334591|334593|334595|334603|334604|334608|334611|334614|334616|334631|334632|334648|334652|334655|334664|334665|334666|344387|344388|344391|344402|344403|344404|344415|344416|344419|344427|344429|344436|344438|344443|344445|344450|344451|344455|344457|344461|344463|344466|344468|344470|344472|344473|344474|344475|344483|344484|344486|344495|344496|344498|344500|344502|344504|344506|349475|349476|349478|349480|349481|349483|349484|349486|349487|349488|349490|349492|349493|349496|349499|349500|349502|349503|349504|349506|349509|349512|349514|349519|349522|349523|349526|349529|349530|349537|349538|349540|350477|350479|350480|350483|350484|350487|350489|350491|350493|350495|350496|350497|350502|350506|350507|350511|350514|350517|350519|350520|350523|350526|350531|350536|350539|350540|350543|350544|350546|350547|350549|350550|353528|353529|430269|430271|430272|430276|493723|495914|495915|540035|540035|583525|584427|619930|619931|716760|745301|757309|757316|757317|757318|786303|882612|882613|882614|882615|882616|882617|882618|882619|882620|882621|882622|882623|882624|882625|882626|882627|882628|882629|882630|882631|882632|882633|882634|882635|882636|882637|882638|882639|882640|882641|882642|882643|882644|882645|882646|882647|882648|882649|882650|882651|882652|882653|882654|882655|882656|882657|882658|882659|882660|882661|882662|882663|882664|882665|882666|882667|882668|882669|882670|882671|882672|882673|882674|882675|882676|882677|882678|882954|882955|904884", "text": "Leprechaunism syndrome" }, { - "baseId": "29726|29748|263347|553407|553409", + "upstreamId": "29726|29748|263347|553407|553409", "text": "Insulin resistance" }, { - "baseId": "29729", + "upstreamId": "29729", "text": "Insulin-resistant diabetes mellitus" }, { - "baseId": "29730|29731|29746|29751|29752|190228|190728|191864|191865|192203|195858|205413|208629|208630|208634|208636|208637|208639|208640|266492|273448|334529|334531|334532|334533|334537|334540|334542|334544|334546|334548|334556|334557|334558|334561|334574|334575|334577|334580|334582|334585|334587|334591|334593|334595|334603|334604|334608|334611|334614|334616|334631|334632|334648|334652|334655|334664|334665|334666|344387|344388|344391|344402|344403|344404|344415|344416|344419|344427|344429|344436|344438|344443|344445|344450|344451|344455|344457|344461|344463|344466|344468|344470|344472|344473|344474|344475|344483|344484|344486|344495|344496|344498|344500|344502|344504|344506|349475|349476|349478|349480|349481|349483|349484|349486|349487|349488|349490|349492|349493|349496|349499|349500|349502|349503|349504|349506|349509|349512|349514|349519|349522|349523|349526|349529|349530|349537|349538|349540|350477|350479|350480|350483|350484|350487|350489|350491|350493|350495|350496|350497|350502|350506|350507|350511|350514|350517|350519|350520|350523|350526|350531|350536|350539|350540|350543|350544|350546|350547|350549|350550|353528|353529|423235|430269|430271|430272|430276|493723|540035|540035|583525|619930|716760|745301|757309|757316|757317|757318|786303|882612|882613|882614|882615|882616|882617|882618|882619|882620|882621|882622|882623|882624|882625|882626|882627|882628|882629|882630|882631|882632|882633|882634|882635|882636|882637|882638|882639|882640|882641|882642|882643|882644|882645|882646|882647|882648|882649|882650|882651|882652|882653|882654|882655|882656|882657|882658|882659|882660|882661|882662|882663|882664|882665|882666|882667|882668|882669|882670|882671|882672|882673|882674|882675|882676|882677|882678|882954|882955", + "upstreamId": 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"text": "Pineal hyperplasia AND diabetes mellitus syndrome" }, { - "baseId": "29746|94325|252632|254638|254639|254641|254642|254643|254645|413341|413342|462372|462373|463084|463089|513322|527296|527299|527302|527304|527581|527586|550572|566965|566973|568139|568140|571952|571958|641296|641297|641298|641299|641300|641301|641302|652259|678969|693249|693250|693251|695576|769240|778103|820509|840125|840126|840127|840128|840129|840130|840131|840132|840133|840134|840135|840136|840137|840138|851517|926686|926687|926688|941037|948112|948113|948114|948115|956910", + "upstreamId": "29746|94325|252632|254638|254639|254641|254642|254643|254645|413341|413342|462372|462373|463084|463089|513322|527296|527299|527302|527304|527581|527586|550572|566965|566973|568139|568140|571952|571958|641296|641297|641298|641299|641300|641301|641302|652259|678969|693249|693250|693251|695576|769240|778103|820509|840125|840126|840127|840128|840129|840130|840131|840132|840133|840134|840135|840136|840137|840138|851517|926686|926687|926688|941037|948112|948113|948114|948115|956910", "text": "Bailey-Bloch congenital myopathy" }, { - "baseId": "29747|208635|266492|430269|493723|540035", + "upstreamId": "29747|208635|266492|430269|493723|540035", "text": "Hyperinsulinemic hypoglycemia familial 5" }, { - "baseId": "29755|29756|169178|169179|169181|169182|169184|208230|208231|208232|208233|429747|550029|643629|643630|643631|714686|714687|726342|726343|739875|770416|776102|779729|816480|842801|842802|920348|927460|927461|937116|949058", + "upstreamId": 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"Hepatitis C virus infection, response to therapy of" }, { - "baseId": "29765|29766|29767|45039|45859|116913|116928|116929|116932|116941|116942|438866|469579|469583|471138|471141|533796|533806|533822|533836|534328|571512|573068|573070|573074|573763|624690|648936|648937|648938|648939|648940|648941|653244|728865|728866|742595|757752|757753|848727|848728|848729|848730|853003|929306|929307|939088|939089|939090|951213|975708|975724", + "upstreamId": "29765|29766|29767|45039|45859|116913|116928|116929|116932|116941|116942|438866|469579|469583|471138|471141|533796|533806|533822|533836|534328|571512|573068|573070|573074|573763|624690|648936|648937|648938|648939|648940|648941|653244|728865|728866|742595|757752|757753|848727|848728|848729|848730|853003|929306|929307|939088|939089|939090|951213|975708|975724", "text": "Immunodeficiency 28" }, { - "baseId": 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"text": "Epidermolysis bullosa junctionalis with pyloric atresia" }, { - "baseId": "29785|29786|214743|214744|214745|410739|425229|439174|469334|470313|470321|470322|470329|470331|470868|470871|470873|471377|533431|533473|533474|533479|533519|533521|533526|533528|533529|533530|533531|533537|534039|534043|534046|534056|571173|571174|572870|572874|573477|573482|573484|648602|648603|648604|648605|648606|653090|653207|653540|653644|653645|716897|716898|742314|773029|773031|780041|791974|791975|848278|848279|848280|848281|848282|851845|929152|938930|938931|940500|951030|951031|951032", + "upstreamId": 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"text": "INSULIN-LIKE GROWTH FACTOR II POLYMORPHISM" }, { - "baseId": "29790", + "upstreamId": "29790", "text": "SUPEROXIDE DISMUTASE 2 POLYMORPHISM" }, { - "baseId": "29790", + "upstreamId": "29790", "text": "Microvascular complications of diabetes 6" }, { - "baseId": "29790|339355", + "upstreamId": "29790|339355", "text": "cyclophosphamide response - Efficacy" }, { - "baseId": "29791|29800|29823|34335|194306|196284|260865|260866|260867|260868|260869|260870|260871|260872|260873|260874|260875|260876|260877|260878|260879|260880|260881|260882|260883|260884|260885|260886|260887|260888|260889|260890|260891|260892|260893|260894|260895|540449", + "upstreamId": "29791|29800|29823|34335|194306|196284|260865|260866|260867|260868|260869|260870|260871|260872|260873|260874|260875|260876|260877|260878|260879|260880|260881|260882|260883|260884|260885|260886|260887|260888|260889|260890|260891|260892|260893|260894|260895|540449", "text": "Motor neuron disease" }, { - "baseId": "29805|29806|29822", + "upstreamId": "29805|29806|29822", "text": "Amyotrophic lateral sclerosis 1, autosomal recessive" }, { - "baseId": "29805|101563|138100|138105|138106|138109|253530|253535|257862|275813|275835|275846|275852|275853|275859|275867|275874|275875|275885|275924|275994|276114|301223|307148|308234|311342|312615|312633|316839|316886|317274|318533|318542|319067|325125|325141|334817|335933|335979|336000|339510|339513|339516|341312|342768|342779|342814|342820|345642|345650|345651|345654|345735|345740|345745|345747|349006|349009|349010|350179|350191|350195|350203|350220|351241|351252|351255|351273|351279|352384|352385|352933|352934|352935|352936|353027|353589", + "upstreamId": 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"text": "Growth delay due to insulin-like growth factor type 1 deficiency" }, { - "baseId": 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"text": "Growth delay due to insulin-like growth factor I resistance" }, { - "baseId": "29839|29840|225849|259766|440803|508732|511499|550873|793021|970770", + "upstreamId": "29839|29840|225849|259766|440803|508732|511499|550873|793021|970770", "text": "Spinocerebellar Ataxia Type 15" }, { - "baseId": "29841|29842|137577|467196|468149|531447|531451|569477|572001|574566|614442|646384|646385|646386|646387|646388|704283|727343|731174|740938|756022|760470|779824|845847|845848|845849|928438|938117|950134|958237", + "upstreamId": "29841|29842|137577|467196|468149|531447|531451|569477|572001|574566|614442|646384|646385|646386|646387|646388|704283|727343|731174|740938|756022|760470|779824|845847|845848|845849|928438|938117|950134|958237", "text": "Agammaglobulinemia 6, autosomal recessive" }, { - "baseId": "29843", + "upstreamId": "29843", "text": "IMMUNOGLOBULIN KAPPA LIGHT CHAIN POLYMORPHISM Inv1" }, { - "baseId": "29844", + "upstreamId": "29844", "text": "IMMUNOGLOBULIN KAPPA LIGHT CHAIN POLYMORPHISM Inv2" }, { - "baseId": "29845", + "upstreamId": "29845", "text": "IMMUNOGLOBULIN KAPPA LIGHT CHAIN POLYMORPHISM Inv3" }, { - "baseId": "29846", + "upstreamId": "29846", "text": "Atopic asthma, susceptibility to" }, { - "baseId": "29847", + "upstreamId": "29847", "text": "Immunoglobulin IgG2 deficiency" }, { - "baseId": 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+ "upstreamId": 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"text": "Inflammatory bowel disease 28, autosomal recessive" }, { - "baseId": 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+ "upstreamId": 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"text": "Symmetrical dyschromatosis of extremities" }, { - "baseId": "29862", + "upstreamId": "29862", "text": "Lupus nephritis, susceptibility to" }, { - "baseId": "29862", + "upstreamId": "29862", "text": "Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis" }, { - "baseId": "29862", + "upstreamId": "29862", "text": "Malaria, severe, susceptibility to" }, { - "baseId": "29862|227742", + "upstreamId": "29862|227742", "text": "trastuzumab response - Efficacy" }, { - "baseId": "29863|29864|237583|433637|433638|433639|433640|433641|469908|469910|469911|469912|469913|470911|471373|534061|534063|534071|534073|534078|534080|534156|534158|538496|571711|571712|571714|571715|571717|573201|573275|573278|573953|573954|575201|575216|610168|649202|649203|649204|649205|649206|649207|649208|653596|705819|705820|717349|717350|717351|729059|729060|729061|729062|729063|742784|757986|757987|773451|849078|849079|849080|849081|849082|849083|929408|929409|939210|951359|959035|959036|959037", + "upstreamId": "29863|29864|237583|433637|433638|433639|433640|433641|469908|469910|469911|469912|469913|470911|471373|534061|534063|534071|534073|534078|534080|534156|534158|538496|571711|571712|571714|571715|571717|573201|573275|573278|573953|573954|575201|575216|610168|649202|649203|649204|649205|649206|649207|649208|653596|705819|705820|717349|717350|717351|729059|729060|729061|729062|729063|742784|757986|757987|773451|849078|849079|849080|849081|849082|849083|929408|929409|939210|951359|959035|959036|959037", "text": "Agammaglobulinemia 2, autosomal recessive" }, { - "baseId": "29865", + "upstreamId": "29865", "text": "IGG receptor I, phagocytic, familial deficiency of" }, { - "baseId": "29867|614187", + "upstreamId": "29867|614187", "text": "Immunodeficiency 20" }, { - "baseId": "29872", + "upstreamId": "29872", "text": "Impdh2 enzyme activity, variation in" }, { - "baseId": "29873|29874|29875|190982|248646|551553|818253", + "upstreamId": "29873|29874|29875|190982|248646|551553|818253", "text": "Retinitis pigmentosa 10" }, { - "baseId": "29876|29877|190982|190982|191349|191774|194330|301832|301833|301839|301840|301844|301845|304990|304997|305010|305021|305023|309672|309673|309674|309675|309676|309681|309683|309793|309795|309815|309818|309819|309821|309824|309845|360887|444052|551553|623976|692130|699814|699816|722294|735938|777623|777625|801405|832961|832967|897395|897396|897397|897398|897399|897400|897401|897402|897403|897404|897405|897406|897407|897408|897409|897410|897411|897412|897413|897414|897415|897416|897417|897418|897419|897420|897421|900309|900310|900311|900312|919072|919073|919074", + "upstreamId": "29876|29877|190982|190982|191349|191774|194330|301832|301833|301839|301840|301844|301845|304990|304997|305010|305021|305023|309672|309673|309674|309675|309676|309681|309683|309793|309795|309815|309818|309819|309821|309824|309845|360887|444052|551553|623976|692130|699814|699816|722294|735938|777623|777625|801405|832961|832967|897395|897396|897397|897398|897399|897400|897401|897402|897403|897404|897405|897406|897407|897408|897409|897410|897411|897412|897413|897414|897415|897416|897417|897418|897419|897420|897421|900309|900310|900311|900312|919072|919073|919074", "text": "Leber congenital amaurosis 11" }, { - "baseId": "29889|29890|29891|29892|29893|29894|29895|29896|29897|29898|226665|428696", + "upstreamId": "29889|29890|29891|29892|29893|29894|29895|29896|29897|29898|226665|428696", "text": "Currarino triad" }, { - "baseId": "29899|29900", + "upstreamId": "29899|29900", "text": "Microphthalmia, cataracts, and iris abnormalities" }, { - "baseId": "29900|29901|29902|177410|178152|190674|195056|195057|265563|269268|274085|321288|321289|321293|321295|321297|321299|330480|330482|330483|330485|330487|330488|330491|330493|330500|330506|337020|337037|337040|337046|337048|337059|337060|337063|337068|337070|337072|337073|338954|338961|338966|338970|338971|338972|338976|338981|338996|338997|339002|339003|339007|339009|463476|464354|464355|464476|490994|528796|528803|569013|584936|642679|652424|693593|693594|693595|693596|693597|714230|739309|754144|754145|754146|769901|769902|769903|784779|841719|841720|872522|872523|872524|872525|872526|872527|872528|872529|872530|872531|872532|872533|872534|872535|872536|872537|872538|872539|872540|872541|876440|876441|876442|876443|936706|936707|957294|957295", + "upstreamId": "29900|29901|29902|177410|178152|190674|195056|195057|265563|269268|274085|321288|321289|321293|321295|321297|321299|330480|330482|330483|330485|330487|330488|330491|330493|330500|330506|337020|337037|337040|337046|337048|337059|337060|337063|337068|337070|337072|337073|338954|338961|338966|338970|338971|338972|338976|338981|338996|338997|339002|339003|339007|339009|463476|464354|464355|464476|490994|528796|528803|569013|584936|642679|652424|693593|693594|693595|693596|693597|714230|739309|754144|754145|754146|769901|769902|769903|784779|841719|841720|872522|872523|872524|872525|872526|872527|872528|872529|872530|872531|872532|872533|872534|872535|872536|872537|872538|872539|872540|872541|876440|876441|876442|876443|936706|936707|957294|957295", "text": "Microphthalmia, isolated 2" }, { - "baseId": "29901|29903|78970|177410|178152|195056|195057|269268|321288|321289|321293|321295|321297|321299|330480|330482|330483|330485|330487|330488|330491|330493|330500|330506|337020|337037|337040|337046|337048|337059|337060|337063|337068|337070|337072|337073|338954|338961|338966|338970|338971|338972|338976|338981|338996|338997|339002|339003|339007|339009|464355|464476|693593|693594|693595|754144|872522|872523|872524|872525|872526|872527|872528|872529|872530|872531|872532|872533|872534|872535|872536|872537|872538|872539|872540|872541|876440|876441|876442|876443", + "upstreamId": "29901|29903|78970|177410|178152|195056|195057|269268|321288|321289|321293|321295|321297|321299|330480|330482|330483|330485|330487|330488|330491|330493|330500|330506|337020|337037|337040|337046|337048|337059|337060|337063|337068|337070|337072|337073|338954|338961|338966|338970|338971|338972|338976|338981|338996|338997|339002|339003|339007|339009|464355|464476|693593|693594|693595|754144|872522|872523|872524|872525|872526|872527|872528|872529|872530|872531|872532|872533|872534|872535|872536|872537|872538|872539|872540|872541|876440|876441|876442|876443", "text": "Microphthalmia, isolated, with coloboma 3" }, { - "baseId": "29901|171866|177410|190674|263187|265563|321288|330485|337020|338972|424443|424444|464355|528803|625774|693593|693594|693596|754144|754145|754146|769902|769903|822308|957295|979522|979523|979524|979525|979526", + "upstreamId": "29901|171866|177410|190674|263187|265563|321288|330485|337020|338972|424443|424444|464355|528803|625774|693593|693594|693596|754144|754145|754146|769902|769903|822308|957295|979522|979523|979524|979525|979526", "text": "Microphthalmia" }, { - "baseId": "29901|313870|320062|320088|320089|320100|320112|320165|320174|320199|327204|327217|327218|327272|424445|802092|802093|802094", + "upstreamId": "29901|313870|320062|320088|320089|320100|320112|320165|320174|320199|327204|327217|327218|327272|424445|802092|802093|802094", "text": "Anophthalmia" }, { - "baseId": "29904|190108", + "upstreamId": "29904|190108", "text": "Oculoauricular syndrome" }, { - "baseId": "29906|29907|29910|29911|29915|227486|227487|227488|227489|227490|227492|360827|550229|677408|904414|918699", + "upstreamId": "29906|29907|29910|29911|29915|227486|227487|227488|227489|227490|227492|360827|550229|677408|904414|918699", "text": "Synpolydactyly 1" }, { - "baseId": "29908|29909|244065|677408", + "upstreamId": "29908|29909|244065|677408", "text": "Brachydactyly type E1" }, { - "baseId": "29908|29909|677408", + "upstreamId": "29908|29909|677408", "text": "Brachydactyly type D" }, { - "baseId": "29912|29913|677408|818241", + "upstreamId": "29912|29913|677408|818241", "text": "Syndactyly, type V" }, { - "baseId": "29914|360827", + "upstreamId": "29914|360827", "text": "Brachydactyly-syndactyly syndrome" }, { - "baseId": "29916", + "upstreamId": "29916", "text": "VACTERL association" }, { - "baseId": "29917|263231|282990|282991|282999|283000|283005|283006|283014|283836|283839|283840|283841|283843|283845|285472|285473|285477|285499|285504|285506|285507|285866|285875|285876|285877|285881|285883|285884|285885|285886|285887|285895|881651|881652|881653|881654|881655|881656|881657|881658|881659|918700", + "upstreamId": "29917|263231|282990|282991|282999|283000|283005|283006|283014|283836|283839|283840|283841|283843|283845|285472|285473|285477|285499|285504|285506|285507|285866|285875|285876|285877|285881|285883|285884|285885|285886|285887|285895|881651|881652|881653|881654|881655|881656|881657|881658|881659|918700", "text": "Vertical talus, congenital" }, { - "baseId": "29918|29919|29920|29925|29926|132730|227271", + "upstreamId": "29918|29919|29920|29925|29926|132730|227271", "text": "Selective tooth agenesis 1" }, { - "baseId": "29921|227271|453202|453457|453560|453935|453940|453942|453944|520201|559850|563721|632230|691569|698533|781960|781961|790475|829191|829192|918896|923522|970794", + "upstreamId": "29921|227271|453202|453457|453560|453935|453940|453942|453944|520201|559850|563721|632230|691569|698533|781960|781961|790475|829191|829192|918896|923522|970794", "text": "Hypoplastic enamel-onycholysis-hypohidrosis syndrome" }, { - "baseId": "29922|29923|29924|227271", + "upstreamId": "29922|29923|29924|227271", "text": "Orofacial cleft 5" }, { - "baseId": "29928|29929|29930|29931|29933|29934|29935", + "upstreamId": "29928|29929|29930|29931|29933|29934|29935", "text": "Hand-foot-genital syndrome" }, { - "baseId": "29932", + "upstreamId": "29932", "text": "Guttmacher syndrome" }, { - "baseId": "29936", + "upstreamId": "29936", "text": "Radioulnar synostosis with amegakaryocytic thrombocytopenia 1" }, { - "baseId": "29937|29938|29940|302734|302735|302736|302738|302739|302745|302746|302749|302750|302751|302756|302767|306063|306065|306072|306075|306082|306084|306086|306087|306093|310817|310833|310834|310835|310841|310854|310855|310856|311028|311036", + "upstreamId": "29937|29938|29940|302734|302735|302736|302738|302739|302745|302746|302749|302750|302751|302756|302767|306063|306065|306072|306075|306082|306084|306086|306087|306093|310817|310833|310834|310835|310841|310854|310855|310856|311028|311036", "text": "Bosley-Salih-Alorainy syndrome" }, { - "baseId": "29937|29939|302767|306082|306086|306087|310834|579319|897937|897938|897939|897940|897941|897942|897943|897944|897945|897946|897947|897948|897949|897950|897951|897952|897953|897954|897955|897956", + "upstreamId": "29937|29939|302767|306082|306086|306087|310834|579319|897937|897938|897939|897940|897941|897942|897943|897944|897945|897946|897947|897948|897949|897950|897951|897952|897953|897954|897955|897956", "text": "Human HOXA1 syndromes" }, { - "baseId": "29942", + "upstreamId": "29942", "text": "Low density lipoprotein cholesterol level quantitative trait locus 3" }, { - "baseId": "29943", + "upstreamId": "29943", "text": "Beryllium disease, chronic, susceptibility to" }, { - "baseId": "29944", + "upstreamId": "29944", "text": "Sarcoidosis 1" }, { - "baseId": "29945", + "upstreamId": "29945", "text": "Psoriasis susceptibility 1" }, { - "baseId": "29946", + "upstreamId": "29946", "text": "HIV-1 viremia, susceptibility to" }, { - "baseId": "29947", + "upstreamId": "29947", "text": "Ankylosing spondylitis" }, { - "baseId": "29947", + "upstreamId": "29947", "text": "Synovitis, chronic, susceptibility to" }, { - "baseId": "29948|29950|434609", + "upstreamId": "29948|29950|434609", "text": "Susceptibility to severe cutaneous adverse reaction" }, { - "baseId": "29948|29950", + "upstreamId": "29948|29950", "text": "Erythema multiforme major" }, { - "baseId": "29948|29950", + "upstreamId": "29948|29950", "text": "Toxic epidermal necrolysis" }, { - "baseId": "29949", + "upstreamId": "29949", "text": "Abacavir hypersensitivity" }, { - "baseId": "29949", + "upstreamId": "29949", "text": "Drug-induced liver injury due to flucloxacillin" }, { - "baseId": "29950", + "upstreamId": "29950", "text": "Allopurinol response" }, { - "baseId": "29953|361737|434541", + "upstreamId": "29953|361737|434541", "text": "Thrombophilia, histidine-rich glycoprotein-related" }, { - "baseId": "29954|29955|70505|359832", + "upstreamId": "29954|29955|70505|359832", "text": "Hemolytic anemia due to hexokinase deficiency" }, { - "baseId": 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+ "upstreamId": 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"text": "Schwartz-Jampel syndrome" }, { - "baseId": 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"text": "Lethal Kniest-like syndrome" }, { - "baseId": 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+ "upstreamId": "29966|29967|29968|29969|29971|29972|29974|29975|29976|29978|29979|29980|29981|29982|29983|29984|29985|29986|29987|45456|45457|45458|45459|45460|45461|45462|45463|45464|45465|45466|45467|45468|45469|45470|45471|45472|45473|45474|45475|45476|45477|45478|45480|45481|45482|45483|45484|45485|45486|45487|45488|45489|45490|45491|45492|45493|45494|45495|45496|134673|134675|134676|134677|134678|134679|134680|134682|138249|138250|138251|139383|254435|316185|316196|316197|323468|323469|323471|323495|323496|323500|323503|323505|323513|323516|329688|329692|329693|329694|330911|330919|330926|330935|330940|360075|424382|425956|429373|429376|429377|429378|429379|429380|429381|429384|432308|441509|441528|513098|553557|553650|576265|577242|577251|577254|589203|609053|609054|684306|791199|791200|869395|869396|869397|869398|869399|869400|869401|869402|869403|869404|869405|869406|869407|869408|869409|869410|869411|869412|869413|920313|961079|961080|961081|961082|961083|961084|961085|961086|961087|961088|961089|961090|961091|961092|961093|961094|961095|961096|961097|961098|961099|961100|961101|961102|961103|964379|967194|967195", "text": "Maturity-onset diabetes of the young, type 3" }, { - "baseId": "29966", + "upstreamId": "29966", "text": "Hepatic adenomas, familial" }, { - "baseId": "29966|134681|263530|980491", + "upstreamId": "29966|134681|263530|980491", "text": "Diabetes mellitus type 1" }, { - "baseId": "29966|29970|29971|29977|970953", + "upstreamId": "29966|29970|29971|29977|970953", "text": "Diabetes mellitus, insulin-dependent, 20" }, { - "baseId": "29976", + "upstreamId": "29976", "text": "SERUM HDL CHOLESTEROL LEVEL, MODIFIER OF" }, { - "baseId": "29988|29989|29990|52775|52776|174255|174256", + "upstreamId": "29988|29989|29990|52775|52776|174255|174256", "text": "Deafness, autosomal recessive 39" }, { - "baseId": "29991|29992|29993|29994|919943", + "upstreamId": "29991|29992|29993|29994|919943", "text": "Heparin cofactor II deficiency" }, { - "baseId": "29996", + "upstreamId": "29996", "text": "HEMOGLOBIN F (ALBAICIN)" }, { - "baseId": "29997", + "upstreamId": "29997", "text": "HEMOGLOBIN F (AUCKLAND)" }, { - "baseId": "29998", + "upstreamId": "29998", "text": "HEMOGLOBIN F (CALTECH)" }, { - "baseId": "29999", + "upstreamId": "29999", "text": "HEMOGLOBIN F (CARLTON)" }, { - "baseId": "30000", + "upstreamId": "30000", "text": "HEMOGLOBIN F (CLARKE)" }, { - "baseId": "30001", + "upstreamId": "30001", "text": "HEMOGLOBIN F (COLUMBUS-GA)" }, { - "baseId": "30002", + "upstreamId": "30002", "text": "HEMOGLOBIN F (FUCHU)" }, { - "baseId": "30003", + "upstreamId": "30003", "text": "HEMOGLOBIN F (HEATHER)" }, { - "baseId": "30004", + "upstreamId": "30004", "text": "HEMOGLOBIN F (KENNESTONE)" }, { - "baseId": "30005", + "upstreamId": "30005", "text": "HEMOGLOBIN F (KINGSTON)" }, { - "baseId": "30006", + "upstreamId": "30006", "text": "HEMOGLOBIN F (LA GRANGE)" }, { - "baseId": "30007", + "upstreamId": "30007", "text": "HEMOGLOBIN F (LODZ)" }, { - "baseId": "30008", + "upstreamId": "30008", "text": "HEMOGLOBIN F (MALAYSIA)" }, { - "baseId": "30009", + "upstreamId": "30009", "text": "HEMOGLOBIN F (MALTA)" }, { - "baseId": "30010", + "upstreamId": "30010", "text": "HEMOGLOBIN F (MARIETTA)" }, { - "baseId": "30011", + "upstreamId": "30011", "text": "HEMOGLOBIN F (MEINOHAMA)" }, { - "baseId": "30012", + "upstreamId": "30012", "text": "HEMOGLOBIN F (MELBOURNE)" }, { - "baseId": "30013", + "upstreamId": "30013", "text": "HEMOGLOBIN F (MINOO)" }, { - "baseId": "30014", + "upstreamId": "30014", "text": "HEMOGLOBIN F (OAKLAND)" }, { - "baseId": "30015", + "upstreamId": "30015", "text": "HEMOGLOBIN F (POOLE)" }, { - "baseId": "30016", + "upstreamId": "30016", "text": "HEMOGLOBIN F (PORT ROYAL)" }, { - "baseId": "30017", + "upstreamId": "30017", "text": "HEMOGLOBIN F (SHANGHAI)" }, { - "baseId": "30018", + "upstreamId": "30018", "text": "HEMOGLOBIN F (TOKYO)" }, { - "baseId": "30019", + "upstreamId": "30019", "text": "HEMOGLOBIN F (URUMQI)" }, { - "baseId": "30020|30028|30035|38707|38708|789092", + "upstreamId": "30020|30028|30035|38707|38708|789092", "text": "Cyanosis, transient neonatal" }, { - "baseId": "30021|30022|30023|30029|30040|30069|30070|30072|30073|30074|30079|30109|30177|30177|30191|30228|30372|30456|30489|30493|38706|38709|44955|44986|44991|190271|314320|314322|320911|320913|320919|326999|328030|328037|328057|432683|433086|433087|868119|868120|868121|868123|868124|868125|868126|868127|868128", + "upstreamId": "30021|30022|30023|30029|30040|30069|30070|30072|30073|30074|30079|30109|30177|30177|30191|30228|30372|30456|30489|30493|38706|38709|44955|44986|44991|190271|314320|314322|320911|320913|320919|326999|328030|328037|328057|432683|433086|433087|868119|868120|868121|868123|868124|868125|868126|868127|868128", "text": "Fetal hemoglobin quantitative trait locus 1" }, { - "baseId": "30024", + "upstreamId": "30024", "text": "HEMOGLOBIN F (GRANADA)" }, { - "baseId": "30025", + "upstreamId": "30025", "text": "HEMOGLOBIN F (AUSTELL)" }, { - "baseId": "30026", + "upstreamId": "30026", "text": "HEMOGLOBIN F (BROOKLYN)" }, { - "baseId": "30027", + "upstreamId": "30027", "text": "HEMOGLOBIN F (ONODA)" }, { - "baseId": "30030", + "upstreamId": "30030", "text": "HEMOGLOBIN F (CATALONIA)" }, { - "baseId": "30031", + "upstreamId": "30031", "text": "HEMOGLOBIN F (COSENZA)" }, { - "baseId": "30032", + "upstreamId": "30032", "text": "HEMOGLOBIN F (SACROMONTE)" }, { - "baseId": "30033", + "upstreamId": "30033", "text": "HEMOGLOBIN F (WAYNESBORO)" }, { - "baseId": "30033", + "upstreamId": "30033", "text": "HEMOGLOBIN F (LESVOS)" }, { - "baseId": "30034", + "upstreamId": "30034", "text": "HEMOGLOBIN F (MACEDONIA II)" }, { - "baseId": "30036", + "upstreamId": "30036", "text": "HEMOGLOBIN F (EMIRATES)" }, { - "baseId": "30038", + "upstreamId": "30038", "text": "HEMOGLOBIN F (VELETA)" }, { - "baseId": "30041", + "upstreamId": "30041", "text": "HEMOGLOBIN F (CALABRIA)" }, { - "baseId": "30042", + "upstreamId": "30042", "text": "HEMOGLOBIN F (CLAMART)" }, { - "baseId": "30043", + "upstreamId": "30043", "text": "HEMOGLOBIN F (OULED RABAH)" }, { - "baseId": "30044", + "upstreamId": "30044", "text": "HBG1 POLYMORPHISM" }, { - "baseId": "30044", + "upstreamId": "30044", "text": "HEMOGLOBIN F (SARDINIA)" }, { - "baseId": "30045", + "upstreamId": "30045", "text": "HEMOGLOBIN F (BASKENT)" }, { - "baseId": "30046", + "upstreamId": "30046", "text": "HEMOGLOBIN F (BEECH ISLAND)" }, { - "baseId": "30047", + "upstreamId": "30047", "text": "HEMOGLOBIN F (BONAIRE)" }, { - "baseId": "30048", + "upstreamId": "30048", "text": "HEMOGLOBIN F (CALLUNA)" }, { - "baseId": "30049", + "upstreamId": "30049", "text": "HEMOGLOBIN F (COBB)" }, { - "baseId": "30050", + "upstreamId": "30050", "text": "HEMOGLOBIN F (DAMMAM)" }, { - "baseId": "30051", + "upstreamId": "30051", "text": "HEMOGLOBIN F (DICKINSON)" }, { - "baseId": "30052", + "upstreamId": "30052", "text": "HEMOGLOBIN F (FOREST PARK)" }, { - "baseId": "30053", + "upstreamId": "30053", "text": "HEMOGLOBIN F (FUKUYAMA)" }, { - "baseId": "30054", + "upstreamId": "30054", "text": "HEMOGLOBIN F (IWATA)" }, { - "baseId": "30055", + "upstreamId": "30055", "text": "HEMOGLOBIN F (IZUMI)" }, { - "baseId": "30055", + "upstreamId": "30055", "text": "HEMOGLOBIN F (KOTOBUKI)" }, { - "baseId": "30056", + "upstreamId": "30056", "text": "HEMOGLOBIN F (JAMAICA)" }, { - "baseId": "30058", + "upstreamId": "30058", "text": "HEMOGLOBIN F (KUALA LUMPUR)" }, { - "baseId": "30059", + "upstreamId": "30059", "text": "HEMOGLOBIN F (PENDERGRASS)" }, { - "baseId": "30060", + "upstreamId": "30060", "text": "HEMOGLOBIN F (PORDENONE)" }, { - "baseId": "30062", + "upstreamId": "30062", "text": "HEMOGLOBIN F (SIENA)" }, { - "baseId": "30062", + "upstreamId": "30062", "text": "HEMOGLOBIN F (HULL)" }, { - "baseId": "30063", + "upstreamId": "30063", "text": "HEMOGLOBIN F (TEXAS I)" }, { - "baseId": "30064", + "upstreamId": "30064", "text": "HEMOGLOBIN F (VICTORIA JUBILEE)" }, { - "baseId": "30065", + "upstreamId": "30065", "text": "HEMOGLOBIN F (XINJIANG)" }, { - "baseId": "30066", + "upstreamId": "30066", "text": "HEMOGLOBIN F (XIN-SU)" }, { - "baseId": "30067", + "upstreamId": "30067", "text": "HEMOGLOBIN F (YAMAGUCHI)" }, { - "baseId": "30068", + "upstreamId": "30068", "text": "HEMOGLOBIN KENYA" }, { - "baseId": "30069", + "upstreamId": "30069", "text": "Sardinian HPFH" }, { - "baseId": "30069", + "upstreamId": "30069", "text": "Greek HPFH" }, { - "baseId": "30070", + "upstreamId": "30070", "text": "British HPFH" }, { - "baseId": "30071", + "upstreamId": "30071", "text": "HEMOGLOBIN F (JIANGSU)" }, { - "baseId": "30076", + "upstreamId": "30076", "text": "HEMOGLOBIN F (WOODSTOCK)" }, { - "baseId": "30077", + "upstreamId": "30077", "text": "Fetal hemoglobin, a-gamma type, reduction in" }, { - "baseId": "30078", + "upstreamId": "30078", "text": "HEMOGLOBIN F (MACEDONIA-I)" }, { - "baseId": "30081", + "upstreamId": "30081", "text": "HEMOGLOBIN A(2)-PRIME" }, { - "baseId": "30081", + "upstreamId": "30081", "text": "HEMOGLOBIN B(2)" }, { - "baseId": "30082", + "upstreamId": "30082", "text": "HEMOGLOBIN A(2) ADRIA" }, { - "baseId": "30083", + "upstreamId": "30083", "text": "HEMOGLOBIN A(2) BABINGA" }, { - "baseId": "30084", + "upstreamId": "30084", "text": "HEMOGLOBIN A(2) CANADA" }, { - "baseId": "30085", + "upstreamId": "30085", "text": "HEMOGLOBIN A(2) COBURG" }, { - "baseId": "30086", + "upstreamId": "30086", "text": "HEMOGLOBIN A(2) FITZROY" }, { - "baseId": "30087", + "upstreamId": "30087", "text": "HEMOGLOBIN A(2) FLATBUSH" }, { - "baseId": "30087", + "upstreamId": "30087", "text": "HEMOGLOBIN FLATBUSH (GEORGIA)" }, { - "baseId": "30088", + "upstreamId": "30088", "text": "HEMOGLOBIN A(2) HONAI" }, { - "baseId": "30089", + "upstreamId": "30089", "text": "HEMOGLOBIN A(2) INDONESIA" }, { - "baseId": "30090", + "upstreamId": "30090", "text": "HEMOGLOBIN A(2) MANZANARES" }, { - "baseId": "30091", + "upstreamId": "30091", "text": "HEMOGLOBIN A(2) MELBOURNE" }, { - "baseId": "30092", + "upstreamId": "30092", "text": "HEMOGLOBIN A(2) NYU" }, { - "baseId": "30092", + "upstreamId": "30092", "text": "HEMOGLOBIN NYU" }, { - "baseId": "30093", + "upstreamId": "30093", "text": "HEMOGLOBIN A(2) ROOSEVELT" }, { - "baseId": "30094", + "upstreamId": "30094", "text": "HEMOGLOBIN A(2) SPHAKIA" }, { - "baseId": "30095", + "upstreamId": "30095", "text": "HEMOGLOBIN A(2) VICTORIA" }, { - "baseId": "30096", + "upstreamId": "30096", "text": "HEMOGLOBIN A(2) WRENS" }, { - "baseId": "30097", + "upstreamId": "30097", "text": "HEMOGLOBIN A(2) YOKOSHIMA" }, { - "baseId": "30098", + "upstreamId": "30098", "text": "HEMOGLOBIN A(2) ZAGREB" }, { - "baseId": "30099|30100|30102", + "upstreamId": "30099|30100|30102", "text": "Hemoglobin Lepore trait" }, { - "baseId": "30100|30717", + "upstreamId": "30100|30717", "text": "Abnormal hemoglobin" }, { - "baseId": "30100", + "upstreamId": "30100", "text": "Reduced beta/alpha synthesis ratio" }, { - "baseId": "30100", + "upstreamId": "30100", "text": "Persistence of hemoglobin F" }, { - "baseId": "30100|30441|30663|30669|30671|30675|30682|30683|30684|30692|30707|30725|30726|30763|30772|30832|30837|30842|30904|30914|30931|47238|47240|47241|264908|362628|362629|362630|362633|362634|362638|362639|390135|427127|432842|432844|432860|432863|432864|432865|432866|432873|433150|433152|433154|480507|480508|609943|614132|614133|623322|739999|789593|792575|799847|799853|799854|816416|857543|857544|857545|857546|857547|857548|857549|857550|857551|857573|857574|857575|857576|857577|903608|979760|979761|979762|983498|983499|983500", + "upstreamId": "30100|30441|30663|30669|30671|30675|30682|30683|30684|30692|30707|30725|30726|30763|30772|30832|30837|30842|30904|30914|30931|47238|47240|47241|264908|362628|362629|362630|362633|362634|362638|362639|390135|427127|432842|432844|432860|432863|432864|432865|432866|432873|433150|433152|433154|480507|480508|609943|614132|614133|623322|739999|789593|792575|799847|799853|799854|816416|857543|857544|857545|857546|857547|857548|857549|857550|857551|857573|857574|857575|857576|857577|903608|979760|979761|979762|983498|983499|983500", "text": "alpha Thalassemia" }, { - "baseId": "30101", + "upstreamId": "30101", "text": "HEMOGLOBIN A(2) PELENDRI" }, { - "baseId": "30103", + "upstreamId": "30103", "text": "HEMOGLOBIN PARCHMAN" }, { - "baseId": "30104", + "upstreamId": "30104", "text": "Delta-zero-thalassemia, knossos type" }, { - "baseId": "30105", + "upstreamId": "30105", "text": "HEMOGLOBIN A(2) CORFU" }, { - "baseId": "30105", + "upstreamId": "30105", "text": "HEMOGLOBIN A(2) TROODOS" }, { - "baseId": "30106", + "upstreamId": "30106", "text": "HEMOGLOBIN A(2) PARKVILLE" }, { - "baseId": "30107|30109|30110|30111|30112|30113|30123|30124|620405", + "upstreamId": "30107|30109|30110|30111|30112|30113|30123|30124|620405", "text": "delta Thalassemia" }, { - "baseId": "30108", + "upstreamId": "30108", "text": "HEMOGLOBIN A(2) NIIGATA" }, { - "baseId": "30109", + "upstreamId": "30109", "text": "HEMOGLOBIN A(2) YIALOUSA" }, { - "baseId": "30113", + "upstreamId": "30113", "text": "HEMOGLOBIN A(2) GROVETOWN" }, { - "baseId": "30114", + "upstreamId": "30114", "text": "HEMOGLOBIN A(2) PUGLIA" }, { - "baseId": "30115", + "upstreamId": "30115", "text": "Delta-0-thalassemia" }, { - "baseId": "30116", + "upstreamId": "30116", "text": "HEMOGLOBIN A(2) SANT' ANTIOCO" }, { - "baseId": "30117", + "upstreamId": "30117", "text": "HEMOGLOBIN A(2) AGRINIO" }, { - "baseId": "30118", + "upstreamId": "30118", "text": "HEMOGLOBIN A(2) MONREALE" }, { - "baseId": "30119", + "upstreamId": "30119", "text": "HEMOGLOBIN A(2) METAPONTO" }, { - "baseId": "30120", + "upstreamId": "30120", "text": "HEMOGLOBIN A(2) CAMPANIA" }, { - "baseId": "30121", + "upstreamId": "30121", "text": "HEMOGLOBIN A(2) LUCANIA" }, { - "baseId": "30122", + "upstreamId": "30122", "text": "HEMOGLOBIN A(2) CAPRI" }, { - "baseId": "30125", + "upstreamId": "30125", "text": "HEMOGLOBIN A(2) NINIVE" }, { - "baseId": "30126", + "upstreamId": "30126", "text": "Delta-plus-thalassemia" }, { - "baseId": "30128", + "upstreamId": "30128", "text": "HEMOGLOBIN AALBORG" }, { - "baseId": "30129", + "upstreamId": "30129", "text": "HEMOGLOBIN ABRUZZO" }, { - "baseId": "30130", + "upstreamId": "30130", "text": "HEMOGLOBIN AGENOGI" }, { - "baseId": "30131", + "upstreamId": "30131", "text": "HEMOGLOBIN ALABAMA" }, { - "baseId": "30132", + "upstreamId": "30132", "text": "HEMOGLOBIN ALAMO" }, { - "baseId": "30133", + "upstreamId": "30133", "text": "HEMOGLOBIN ALBERTA" }, { - "baseId": "30133|30135|30143|30151|30155|30156|30157|30173|30183|30186|30231|30232|30239|30243|30275|30289|30298|30304|30333|30339|30340|30345|30351|30354|30356|30358|30360|30361|30378|30381|30404|30419|30422|30429|30430|30434|30436|30617|906174", + "upstreamId": "30133|30135|30143|30151|30155|30156|30157|30173|30183|30186|30231|30232|30239|30243|30275|30289|30298|30304|30333|30339|30340|30345|30351|30354|30356|30358|30360|30361|30378|30381|30404|30419|30422|30429|30430|30434|30436|30617|906174", "text": "Erythrocytosis 6, familial" }, { - "baseId": "30134", + "upstreamId": "30134", "text": "HEMOGLOBIN ALTDORF" }, { - "baseId": "30135", + "upstreamId": "30135", "text": "HEMOGLOBIN ANDREW-MINNEAPOLIS" }, { - "baseId": "30136", + "upstreamId": "30136", "text": "HEMOGLOBIN ANKARA" }, { - "baseId": "30138", + "upstreamId": "30138", "text": "HEMOGLOBIN ATHENS-GEORGIA" }, { - "baseId": "30139", + "upstreamId": "30139", "text": "HEMOGLOBIN ATLANTA" }, { - "baseId": "30139", + "upstreamId": "30139", "text": "HEMOGLOBIN ATLANTA-COVENTRY" }, { - "baseId": "30141", + "upstreamId": "30141", "text": "HEMOGLOBIN AUSTIN" }, { - "baseId": "30142", + "upstreamId": "30142", "text": "HEMOGLOBIN AVICENNA" }, { - "baseId": "30143", + "upstreamId": "30143", "text": "HEMOGLOBIN BARCELONA" }, { - "baseId": "30144", + "upstreamId": "30144", "text": "HEMOGLOBIN BAYLOR" }, { - "baseId": "30145", + "upstreamId": "30145", "text": "HEMOGLOBIN BEIRUT" }, { - "baseId": "30146", + "upstreamId": "30146", "text": "HEMOGLOBIN BELFAST" }, { - "baseId": "30147", + "upstreamId": "30147", "text": "HEMOGLOBIN BORAS" }, { - "baseId": "30148", + "upstreamId": "30148", "text": "HEMOGLOBIN BOUGARDIREY-MALI" }, { - "baseId": "30149", + "upstreamId": "30149", "text": "HEMOGLOBIN BEOGRAD" }, { - "baseId": "30149", + "upstreamId": "30149", "text": "HEMOGLOBIN D (CAMPERDOWN)" }, { - "baseId": "30150", + "upstreamId": "30150", "text": "HEMOGLOBIN BETH ISRAEL" }, { - "baseId": "30151", + "upstreamId": "30151", "text": "HEMOGLOBIN BETHESDA" }, { - "baseId": "30152", + "upstreamId": "30152", "text": "HEMOGLOBIN BICETRE" }, { - "baseId": "30153", + "upstreamId": "30153", "text": "HEMOGLOBIN BOLOGNA" }, { - "baseId": "30154", + "upstreamId": "30154", "text": "HEMOGLOBIN BREST" }, { - "baseId": "30155", + "upstreamId": "30155", "text": "HEMOGLOBIN BRIGHAM" }, { - "baseId": "30156", + "upstreamId": "30156", "text": "HEMOGLOBIN BRISBANE" }, { - "baseId": "30156", + "upstreamId": "30156", "text": "HEMOGLOBIN GREAT LAKES" }, { - "baseId": "30157", + "upstreamId": "30157", "text": "HEMOGLOBIN BRITISH COLUMBIA" }, { - "baseId": "30158", + "upstreamId": "30158", "text": "HEMOGLOBIN BROCKTON" }, { - "baseId": "30160|30161|30205|30245|30277|30278|30280|30325|30329|30437|30444|30445|30453|30462|30465|30470|30471|30499|30512|30522|30527|30533|30565|38470|44949|44951|47255|47264|380592|380595|380597|432695|432704|546034|546666|590730|611095|621358|621360|621361|917086|983932", + "upstreamId": "30160|30161|30205|30245|30277|30278|30280|30325|30329|30437|30444|30445|30453|30462|30465|30470|30471|30499|30512|30522|30527|30533|30565|38470|44949|44951|47255|47264|380592|380595|380597|432695|432704|546034|546666|590730|611095|621358|621360|621361|917086|983932", "text": "Hemoglobinopathy" }, { - "baseId": "30160|30229|30246|30280|30400|30407|30694|30867", + "upstreamId": "30160|30229|30246|30280|30400|30407|30694|30867", "text": "Heinz body anemia" }, { - "baseId": "30162", + "upstreamId": "30162", "text": "HEMOGLOBIN BUNBURY" }, { - "baseId": "30163", + "upstreamId": "30163", "text": "HEMOGLOBIN BURKE" }, { - "baseId": "30164", + "upstreamId": "30164", "text": "HEMOGLOBIN BUSHWICK" }, { - "baseId": "30165", + "upstreamId": "30165", "text": "HEMOGLOBIN C" }, { - "baseId": "30165|30177|30177|30191|30200|30228|30241|30273|30278|30284|30331|30372|30391|30440|30441|30442|30443|30445|30452|30456|30457|30461|30470|30471|30473|30475|30476|30477|30486|30489|30493|30496|30497|30498|30509|30510|34043|44945|44951|44955|44972|44986|44991|44996|190271|320911|328030|432683|433086|433087|546448|868119|868120|868121", + "upstreamId": "30165|30177|30177|30191|30200|30228|30241|30273|30278|30284|30331|30372|30391|30440|30441|30442|30443|30445|30452|30456|30457|30461|30470|30471|30473|30475|30476|30477|30486|30489|30493|30496|30497|30498|30509|30510|34043|44945|44951|44955|44972|44986|44991|44996|190271|320911|328030|432683|433086|433087|546448|868119|868120|868121", "text": "Hb SS disease" }, { - "baseId": "30165|30177|30177|30191|30200|30210|30228|30236|30241|30263|30273|30278|30295|30297|30331|30341|30372|30381|30391|30394|30424|30440|30441|30442|30443|30444|30445|30446|30447|30452|30453|30454|30456|30457|30458|30459|30461|30462|30463|30465|30466|30468|30470|30471|30472|30473|30475|30476|30477|30480|30481|30484|30485|30486|30487|30488|30489|30490|30492|30493|30496|30497|30498|30499|30500|30501|30503|30504|30505|30506|30508|30509|30510|30512|30522|30524|30527|30528|30531|30543|30545|30547|30551|30553|30554|30558|30576|30590|30599|30601|30602|34042|34043|44945|44946|44948|44949|44951|44954|44955|44956|44958|44962|44965|44966|44967|44969|44970|44972|44973|44974|44975|44976|44977|44978|44979|44980|44984|44986|44991|44993|44995|44996|44998|45001|45004|45005|47251|47252|47255|47264|47272|47276|47287|47306|47307|75268|186822|190271|254202|254205|254206|260797|320911|328030|380592|380593|380594|380595|380596|380597|380598|380599|432675|432677|432681|432683|432687|432690|432692|432694|432695|432704|432705|433082|433083|433084|433086|433087|433088|487421|487444|487446|487504|487518|487527|487534|487561|487562|546034|546035|546317|546448|546662|546666|581709|581827|581920|611303|611304|611306|621353|621362|621817|621818|685287|690005|787983|789684|789685|818290|838557|857427|857428|857429|857430|857431|857432|857433|857435|857436|857437|857438|857439|857440|857441|857442|857443|857444|857445|857446|857447|857448|857449|857450|857451|857452|857453|857454|857455|857456|857457|857458|857459|857460|857461|857462|857463|857464|857465|857466|857467|857468|857469|857470|857471|857472|857473|857474|857475|857476|857477|857478|857479|857480|857481|857482|857483|857484|857485|857486|857487|857488|857489|857490|857491|857492|857493|857494|857495|857496|857497|857498|857499|857500|857501|857502|857503|857504|857505|857506|857507|857508|857509|857510|857511|857512|857513|857514|857515|857516|857517|857518|857519|857520|857521|857522|857523|857525|857526|857527|857528|857529|857530|857531|857532|857533|857534|857535|857536|857537|857538|857539|857540|857541|857542|857552|857553|857555|857557|857558|857559|857560|857561|857563|857564|857565|857566|857567|857568|857569|857570|857571|857572|868119|868120|868121|970074|972531|979011|979012|983496|983497", + "upstreamId": "30165|30177|30177|30191|30200|30210|30228|30236|30241|30263|30273|30278|30295|30297|30331|30341|30372|30381|30391|30394|30424|30440|30441|30442|30443|30444|30445|30446|30447|30452|30453|30454|30456|30457|30458|30459|30461|30462|30463|30465|30466|30468|30470|30471|30472|30473|30475|30476|30477|30480|30481|30484|30485|30486|30487|30488|30489|30490|30492|30493|30496|30497|30498|30499|30500|30501|30503|30504|30505|30506|30508|30509|30510|30512|30522|30524|30527|30528|30531|30543|30545|30547|30551|30553|30554|30558|30576|30590|30599|30601|30602|34042|34043|44945|44946|44948|44949|44951|44954|44955|44956|44958|44962|44965|44966|44967|44969|44970|44972|44973|44974|44975|44976|44977|44978|44979|44980|44984|44986|44991|44993|44995|44996|44998|45001|45004|45005|47251|47252|47255|47264|47272|47276|47287|47306|47307|75268|186822|190271|254202|254205|254206|260797|320911|328030|380592|380593|380594|380595|380596|380597|380598|380599|432675|432677|432681|432683|432687|432690|432692|432694|432695|432704|432705|433082|433083|433084|433086|433087|433088|487421|487444|487446|487504|487518|487527|487534|487561|487562|546034|546035|546317|546448|546662|546666|581709|581827|581920|611303|611304|611306|621353|621362|621817|621818|685287|690005|787983|789684|789685|818290|838557|857427|857428|857429|857430|857431|857432|857433|857435|857436|857437|857438|857439|857440|857441|857442|857443|857444|857445|857446|857447|857448|857449|857450|857451|857452|857453|857454|857455|857456|857457|857458|857459|857460|857461|857462|857463|857464|857465|857466|857467|857468|857469|857470|857471|857472|857473|857474|857475|857476|857477|857478|857479|857480|857481|857482|857483|857484|857485|857486|857487|857488|857489|857490|857491|857492|857493|857494|857495|857496|857497|857498|857499|857500|857501|857502|857503|857504|857505|857506|857507|857508|857509|857510|857511|857512|857513|857514|857515|857516|857517|857518|857519|857520|857521|857522|857523|857525|857526|857527|857528|857529|857530|857531|857532|857533|857534|857535|857536|857537|857538|857539|857540|857541|857542|857552|857553|857555|857557|857558|857559|857560|857561|857563|857564|857565|857566|857567|857568|857569|857570|857571|857572|868119|868120|868121|970074|972531|979011|979012|983496|983497", "text": "beta Thalassemia" }, { - "baseId": "30168", + "upstreamId": "30168", "text": "HEMOGLOBIN CAMDEN" }, { - "baseId": "30168", + "upstreamId": "30168", "text": "HEMOGLOBIN MOTOWN" }, { - "baseId": "30168", + "upstreamId": "30168", "text": "HEMOGLOBIN TOKUCHI" }, { - "baseId": "30169", + "upstreamId": "30169", "text": "HEMOGLOBIN CAMPERDOWN" }, { - "baseId": "30170", + "upstreamId": "30170", "text": "HEMOGLOBIN CARIBBEAN" }, { - "baseId": "30171", + "upstreamId": "30171", "text": "HEMOGLOBIN CASTILLA" }, { - "baseId": "30172", + "upstreamId": "30172", "text": "HEMOGLOBIN CHANDIGARH" }, { - "baseId": "30173", + "upstreamId": "30173", "text": "HEMOGLOBIN CHEMILLY" }, { - "baseId": "30174", + "upstreamId": "30174", "text": "HEMOGLOBIN CHEVERLY" }, { - "baseId": "30175", + "upstreamId": "30175", "text": "HEMOGLOBIN CHICO" }, { - "baseId": "30176", + "upstreamId": "30176", "text": "HEMOGLOBIN CHRISTCHURCH" }, { - "baseId": "30177", + "upstreamId": "30177", "text": "HEMOGLOBIN CITY OF HOPE" }, { - "baseId": "30177|30443|30648|44966", + "upstreamId": "30177|30443|30648|44966", "text": "Beta-thalassemia, dominant inclusion body type" }, { - "baseId": "30177|30191|30200|30228|30372|30489|44955|44986|44991|190271|320911|328030|432683|433086|433087|868119|868120|868121", + "upstreamId": "30177|30191|30200|30228|30372|30489|44955|44986|44991|190271|320911|328030|432683|433086|433087|868119|868120|868121", "text": "Hemoglobin E" }, { - "baseId": "30178", + "upstreamId": "30178", "text": "HEMOGLOBIN COCHIN-PORT ROYAL" }, { - "baseId": "30179", + "upstreamId": "30179", "text": "HEMOGLOBIN COCODY" }, { - "baseId": "30180", + "upstreamId": "30180", "text": "HEMOGLOBIN COLLINGWOOD" }, { - "baseId": "30181", + "upstreamId": "30181", "text": "HEMOGLOBIN CONNECTICUT" }, { - "baseId": "30182", + "upstreamId": "30182", "text": "HEMOGLOBIN COVENTRY" }, { - "baseId": "30183", + "upstreamId": "30183", "text": "HEMOGLOBIN COWTOWN" }, { - "baseId": "30184", + "upstreamId": "30184", "text": "HEMOGLOBIN CRANSTON" }, { - "baseId": "30185", + "upstreamId": "30185", "text": "HEMOGLOBIN CRETE" }, { - "baseId": "30186", + "upstreamId": "30186", "text": "HEMOGLOBIN CRETEIL" }, { - "baseId": "30187", + "upstreamId": "30187", "text": "HEMOGLOBIN D (BUSHMAN)" }, { - "baseId": "30188", + "upstreamId": "30188", "text": "HEMOGLOBIN D (GRANADA)" }, { - "baseId": "30189", + "upstreamId": "30189", "text": "HEMOGLOBIN D (IBADAN)" }, { - "baseId": "30190", + "upstreamId": "30190", "text": "HEMOGLOBIN D (IRAN)" }, { - "baseId": "30191", + "upstreamId": "30191", "text": "Hb D-Los Angeles" }, { - "baseId": "30191|44972", + "upstreamId": "30191|44972", "text": "HBB-Related Disorders" }, { - "baseId": "30191", + "upstreamId": "30191", "text": "Hemoglobin D disease" }, { - "baseId": "30192", + "upstreamId": "30192", "text": "HEMOGLOBIN D (OULED RABAH)" }, { - "baseId": "30193|30194|30200|30278|30297|30391|30449|30450|30486|30487|30488|30489|30490|30492|30493|30496|30498|30499|30500|30501|30503|30504|30505|30506|30508|30509|30510|30512|30513|30514|30515|30516|30526|30527|30531|30545|30553|30625|30655|44976|44996|45005|380597|857535", + "upstreamId": "30193|30194|30200|30278|30297|30391|30449|30450|30486|30487|30488|30489|30490|30492|30493|30496|30498|30499|30500|30501|30503|30504|30505|30506|30508|30509|30510|30512|30513|30514|30515|30516|30526|30527|30531|30545|30553|30625|30655|44976|44996|45005|380597|857535", "text": "Beta-plus-thalassemia" }, { - "baseId": "30195", + "upstreamId": "30195", "text": "HEMOGLOBIN DEER LODGE" }, { - "baseId": "30196", + "upstreamId": "30196", "text": "HEMOGLOBIN DETROIT" }, { - "baseId": "30197", + "upstreamId": "30197", "text": "HEMOGLOBIN DJELFA" }, { - "baseId": "30198", + "upstreamId": "30198", "text": "HEMOGLOBIN DOHA" }, { - "baseId": "30199", + "upstreamId": "30199", "text": "HEMOGLOBIN DUARTE" }, { - "baseId": "30200", + "upstreamId": "30200", "text": "Hemoglobin E/beta thalassemia disease" }, { - "baseId": "30200", + "upstreamId": "30200", "text": "Hemoglobin E disease" }, { - "baseId": "30201", + "upstreamId": "30201", "text": "HEMOGLOBIN E (SASKATOON)" }, { - "baseId": "30202", + "upstreamId": "30202", "text": "HEMOGLOBIN EDMONTON" }, { - "baseId": "30203", + "upstreamId": "30203", "text": "HEMOGLOBIN EXTREMADURA" }, { - "baseId": "30206", + "upstreamId": "30206", "text": "HEMOGLOBIN FUKUOKA" }, { - "baseId": "30207", + "upstreamId": "30207", "text": "HEMOGLOBIN FUKUYAMA" }, { - "baseId": "30208", + "upstreamId": "30208", "text": "HEMOGLOBIN G (ACCRA)" }, { - "baseId": "30208", + "upstreamId": "30208", "text": "HEMOGLOBIN YAIZU" }, { - "baseId": "30209", + "upstreamId": "30209", "text": "HEMOGLOBIN G (COPENHAGEN)" }, { - "baseId": "30210", + "upstreamId": "30210", "text": "HEMOGLOBIN G (COUSHATTA)" }, { - "baseId": "30210", + "upstreamId": "30210", "text": "HEMOGLOBIN G (SASKATOON)" }, { - "baseId": "30210", + "upstreamId": "30210", "text": "HEMOGLOBIN G (HSIN-CHU)" }, { - "baseId": "30210", + "upstreamId": "30210", "text": "HEMOGLOBIN G (TAEGU)" }, { - "baseId": "30211", + "upstreamId": "30211", "text": "HEMOGLOBIN G (FERRARA)" }, { - "baseId": "30212", + "upstreamId": "30212", "text": "HEMOGLOBIN G (GALVESTON)" }, { - "baseId": "30212", + "upstreamId": "30212", "text": "HEMOGLOBIN G (PORT ARTHUR)" }, { - "baseId": "30212", + "upstreamId": "30212", "text": "HEMOGLOBIN G (TEXAS)" }, { - "baseId": "30213", + "upstreamId": "30213", "text": "HEMOGLOBIN G (HSI-TSOU)" }, { - "baseId": "30214", + "upstreamId": "30214", "text": "HEMOGLOBIN G (MAKASSAR)" }, { - "baseId": "30215", + "upstreamId": "30215", "text": "HEMOGLOBIN G (SAN JOSE)" }, { - "baseId": "30216", + "upstreamId": "30216", "text": "HEMOGLOBIN G (SZUHU)" }, { - "baseId": "30216", + "upstreamId": "30216", "text": "HEMOGLOBIN GIFU" }, { - "baseId": "30217", + "upstreamId": "30217", "text": "HEMOGLOBIN G (TAIPEI)" }, { - "baseId": "30218", + "upstreamId": "30218", "text": "HEMOGLOBIN G (TAIWAN-AMI)" }, { - "baseId": "30219", + "upstreamId": "30219", "text": "HEMOGLOBIN GAINESVILLE-GA" }, { - "baseId": "30220", + "upstreamId": "30220", "text": "HEMOGLOBIN GAVELLO" }, { - "baseId": "30221", + "upstreamId": "30221", "text": "HEMOGLOBIN GEELONG" }, { - "baseId": "30221", + "upstreamId": "30221", "text": "HEMOGLOBIN JINAN" }, { - "baseId": "30222", + "upstreamId": "30222", "text": "HEMOGLOBIN GENOVA" }, { - "baseId": "30222", + "upstreamId": "30222", "text": "HEMOGLOBIN HYOGO" }, { - "baseId": "30223", + "upstreamId": "30223", "text": "HEMOGLOBIN GRANGE-BLANCHE" }, { - "baseId": "30224", + "upstreamId": "30224", "text": "HEMOGLOBIN GUN HILL" }, { - "baseId": "30225", + "upstreamId": "30225", "text": "HEMOGLOBIN HACETTEPE" }, { - "baseId": "30225", + "upstreamId": "30225", "text": "HEMOGLOBIN COMPLUTENSE" }, { - "baseId": "30226", + "upstreamId": "30226", "text": "HEMOGLOBIN HAFNIA" }, { - "baseId": "30227", + "upstreamId": "30227", "text": "HEMOGLOBIN HAMADAN" }, { - "baseId": "30228", + "upstreamId": "30228", "text": "HEMOGLOBIN HAMILTON" }, { - "baseId": "30229", + "upstreamId": "30229", "text": "HEMOGLOBIN HAMMERSMITH" }, { - "baseId": "30229", + "upstreamId": "30229", "text": "HEMOGLOBIN CHIBA" }, { - "baseId": "30230", + "upstreamId": "30230", "text": "HEMOGLOBIN HAZEBROUCK" }, { - "baseId": "30231", + "upstreamId": "30231", "text": "HEMOGLOBIN HEATHROW" }, { - "baseId": "30232", + "upstreamId": "30232", "text": "HEMOGLOBIN HELSINKI" }, { - "baseId": "30233", + "upstreamId": "30233", "text": "HEMOGLOBIN HENRI MONDOR" }, { - "baseId": "30234", + "upstreamId": "30234", "text": "HEMOGLOBIN HIJIYAMA" }, { - "baseId": "30235", + "upstreamId": "30235", "text": "HEMOGLOBIN HIKARI" }, { - "baseId": "30236", + "upstreamId": "30236", "text": "HEMOGLOBIN HIMEJI" }, { - "baseId": "30237", + "upstreamId": "30237", "text": "HEMOGLOBIN HINSDALE" }, { - "baseId": "30238", + "upstreamId": "30238", "text": "HEMOGLOBIN HIROSE" }, { - "baseId": "30239", + "upstreamId": "30239", "text": "HEMOGLOBIN HIROSHIMA" }, { - "baseId": "30240", + "upstreamId": "30240", "text": "HEMOGLOBIN HOFU" }, { - "baseId": "30243", + "upstreamId": "30243", "text": "HEMOGLOBIN HOTEL-DIEU" }, { - "baseId": "30244", + "upstreamId": "30244", "text": "HEMOGLOBIN I (HIGH WYCOMBE)" }, { - "baseId": "30246", + "upstreamId": "30246", "text": "HEMOGLOBIN INDIANAPOLIS" }, { - "baseId": "30247", + "upstreamId": "30247", "text": "HEMOGLOBIN SAINT ETIENNE" }, { - "baseId": "30248", + "upstreamId": "30248", "text": "HEMOGLOBIN J (ALTGELD GARDENS)" }, { - "baseId": "30249", + "upstreamId": "30249", "text": "HEMOGLOBIN J (AMIENS)" }, { - "baseId": "30250", + "upstreamId": "30250", "text": "HEMOGLOBIN J (ANTAKYA)" }, { - "baseId": "30251", + "upstreamId": "30251", "text": "HEMOGLOBIN J (AUCKLAND)" }, { - "baseId": "30252", + "upstreamId": "30252", "text": "HEMOGLOBIN J (BALTIMORE)" }, { - "baseId": "30254", + "upstreamId": "30254", "text": "HEMOGLOBIN J (CAIRO)" }, { - "baseId": "30255", + "upstreamId": "30255", "text": "HEMOGLOBIN J (CALABRIA)" }, { - "baseId": "30255", + "upstreamId": "30255", "text": "HEMOGLOBIN J (COSENZA)" }, { - "baseId": "30255", + "upstreamId": "30255", "text": "HEMOGLOBIN J (BARI)" }, { - "baseId": "30256", + "upstreamId": "30256", "text": "HEMOGLOBIN J (CHICAGO)" }, { - "baseId": "30257", + "upstreamId": "30257", "text": "HEMOGLOBIN J (CORDOBA)" }, { - "baseId": "30258", + "upstreamId": "30258", "text": "HEMOGLOBIN J (DALOA)" }, { - "baseId": "30259", + "upstreamId": "30259", "text": "HEMOGLOBIN J (GUANTANAMO)" }, { - "baseId": "30260", + "upstreamId": "30260", "text": "HEMOGLOBIN J (IRAN)" }, { - "baseId": "30262", + "upstreamId": "30262", "text": "HEMOGLOBIN J (LENS)" }, { - "baseId": "30263", + "upstreamId": "30263", "text": "HEMOGLOBIN J (LOME)" }, { - "baseId": "30264", + "upstreamId": "30264", "text": "HEMOGLOBIN J (LUHE)" }, { - "baseId": "30266", + "upstreamId": "30266", "text": "HEMOGLOBIN J (SICILIA)" }, { - "baseId": "30267", + "upstreamId": "30267", "text": "HEMOGLOBIN J (TAICHUNG)" }, { - "baseId": "30267", + "upstreamId": "30267", "text": "HEMOGLOBIN K (CAMEROON)" }, { - "baseId": "30268", + "upstreamId": "30268", "text": "HEMOGLOBIN JIANGHUA" }, { - "baseId": "30269", + "upstreamId": "30269", "text": "HEMOGLOBIN JOHNSTOWN" }, { - "baseId": "30271", + "upstreamId": "30271", "text": "HEMOGLOBIN K (IBADAN)" }, { - "baseId": "30272", + "upstreamId": "30272", "text": "HEMOGLOBIN K (WOOLWICH)" }, { - "baseId": "30275", + "upstreamId": "30275", "text": "HEMOGLOBIN KEMPSEY" }, { - "baseId": "30276", + "upstreamId": "30276", "text": "HEMOGLOBIN KENITRA" }, { - "baseId": "30277", + "upstreamId": "30277", "text": "HEMOGLOBIN KHARTOUM" }, { - "baseId": "30278", + "upstreamId": "30278", "text": "HEMOGLOBIN KNOSSOS" }, { - "baseId": "30278", + "upstreamId": "30278", "text": "Beta-knossos-thalassemia" }, { - "baseId": "30279", + "upstreamId": "30279", "text": "HEMOGLOBIN KOFU" }, { - "baseId": "30281", + "upstreamId": "30281", "text": "HEMOGLOBIN KORIYAMA" }, { - "baseId": "30282", + "upstreamId": "30282", "text": "HEMOGLOBIN MACHIDA" }, { - "baseId": "30283", + "upstreamId": "30283", "text": "HEMOGLOBIN KORLE-BU" }, { - "baseId": "30284", + "upstreamId": "30284", "text": "HEMOGLOBIN LA DESIRADE" }, { - "baseId": "30285", + "upstreamId": "30285", "text": "HEMOGLOBIN LAS PALMAS" }, { - "baseId": "30286", + "upstreamId": "30286", "text": "HEMOGLOBIN LEIDEN" }, { - "baseId": "30287", + "upstreamId": "30287", "text": "HEMOGLOBIN LINCOLN PARK" }, { - "baseId": "30287|30308|30343|30344", + "upstreamId": "30287|30308|30343|30344", "text": "HBB/HBD anti-Lepore" }, { - "baseId": "30288", + "upstreamId": "30288", "text": "HEMOGLOBIN LINKOPING" }, { - "baseId": "30288", + "upstreamId": "30288", "text": "HEMOGLOBIN MEILAHTI" }, { - "baseId": "30290|30386|32791|32793|32795|32798|32807|32821|32822|75388|249427|249428|249434|256186|256187|256188|256190|256192|256193|256194|256195|256196|256197|256198|328654|328655|328658|328660|328662|328667|328670|328672|328673|328681|328682|328683|338624|338630|338631|338644|338649|338650|338651|338653|338655|338656|338661|338663|338665|344704|344706|344708|344710|344712|344719|344720|344722|344723|344724|344726|344727|344730|344734|346097|346103|346104|346106|346108|346110|346111|346117|346121|346122|346126|346127|346132|361085|514047|727205|727207|740809|740810|755890|800132|800977|800978|800979|845491|877685|877686|877687|877688|877689|877690|877691|877692|877693|877694|877695|877696|877697|877698|877699|877700|877701|877702|877703|877704|877705|877706|877707|877708|877709|877710|877711|877712|877713|877714|877715|877716|877717|877718|877719|877720|877721|877722|877723|877724|877725|877726|877727|877728|877729|877730|877731|877732|877733|877734|880529|880530|880531", + "upstreamId": "30290|30386|32791|32793|32795|32798|32807|32821|32822|75388|249427|249428|249434|256186|256187|256188|256190|256192|256193|256194|256195|256196|256197|256198|328654|328655|328658|328660|328662|328667|328670|328672|328673|328681|328682|328683|338624|338630|338631|338644|338649|338650|338651|338653|338655|338656|338661|338663|338665|344704|344706|344708|344710|344712|344719|344720|344722|344723|344724|344726|344727|344730|344734|346097|346103|346104|346106|346108|346110|346111|346117|346121|346122|346126|346127|346132|361085|514047|727205|727207|740809|740810|755890|800132|800977|800978|800979|845491|877685|877686|877687|877688|877689|877690|877691|877692|877693|877694|877695|877696|877697|877698|877699|877700|877701|877702|877703|877704|877705|877706|877707|877708|877709|877710|877711|877712|877713|877714|877715|877716|877717|877718|877719|877720|877721|877722|877723|877724|877725|877726|877727|877728|877729|877730|877731|877732|877733|877734|880529|880530|880531", "text": "Hemolytic anemia" }, { - "baseId": "30291", + "upstreamId": "30291", "text": "HEMOGLOBIN LUFKIN" }, { - "baseId": "30292", + "upstreamId": "30292", "text": "HEMOGLOBIN LYON" }, { - "baseId": "30293", + "upstreamId": "30293", "text": "HEMOGLOBIN M (MILWAUKEE 1)" }, { - "baseId": "30293|30294|30417", + "upstreamId": "30293|30294|30417", "text": "Methemoglobinemia, beta-globin type" }, { - "baseId": "30294", + "upstreamId": "30294", "text": "HEMOGLOBIN M (MILWAUKEE 2)" }, { - "baseId": "30294", + "upstreamId": "30294", "text": "HEMOGLOBIN M (HYDE PARK)" }, { - "baseId": "30294", + "upstreamId": "30294", "text": "HEMOGLOBIN M (AKITA)" }, { - "baseId": "30295", + "upstreamId": "30295", "text": "HEMOGLOBIN M (SASKATOON)" }, { - "baseId": "30295", + "upstreamId": "30295", "text": "HEMOGLOBIN M (RADOM) METHEMOGLOBINEMIA, BETA TYPE" }, { - "baseId": "30296", + "upstreamId": "30296", "text": "HEMOGLOBIN MADRID" }, { - "baseId": "30297", + "upstreamId": "30297", "text": "HEMOGLOBIN MALAY" }, { - "baseId": "30297", + "upstreamId": "30297", "text": "Beta-malay-thalassemia" }, { - "baseId": "30298", + "upstreamId": "30298", "text": "HEMOGLOBIN MALMO" }, { - "baseId": "30299", + "upstreamId": "30299", "text": "HEMOGLOBIN MAPUTO" }, { - "baseId": "30302", + "upstreamId": "30302", "text": "HEMOGLOBIN MATERA" }, { - "baseId": "30303", + "upstreamId": "30303", "text": "HEMOGLOBIN MEQUON" }, { - "baseId": "30304", + "upstreamId": "30304", "text": "HEMOGLOBIN MCKEES ROCKS" }, { - "baseId": "30305", + "upstreamId": "30305", "text": "HEMOGLOBIN MINNEAPOLIS-LAOS" }, { - "baseId": "30307", + "upstreamId": "30307", "text": "HEMOGLOBIN MITO" }, { - "baseId": "30308", + "upstreamId": "30308", "text": "HEMOGLOBIN MIYADA" }, { - "baseId": "30309", + "upstreamId": "30309", "text": "HEMOGLOBIN MIYASHIRO" }, { - "baseId": "30310", + "upstreamId": "30310", "text": "HEMOGLOBIN MIZUHO" }, { - "baseId": "30311", + "upstreamId": "30311", "text": "HEMOGLOBIN MIZUNAMI" }, { - "baseId": "30312", + "upstreamId": "30312", "text": "HEMOGLOBIN MOBILE" }, { - "baseId": "30313", + "upstreamId": "30313", "text": "HEMOGLOBIN MORIGUCHI" }, { - "baseId": "30314", + "upstreamId": "30314", "text": "HEMOGLOBIN MOSCVA" }, { - "baseId": "30315", + "upstreamId": "30315", "text": "HEMOGLOBIN MOZHAISK" }, { - "baseId": "30316", + "upstreamId": "30316", "text": "HEMOGLOBIN N, BETA TYPE" }, { - "baseId": "30317", + "upstreamId": "30317", "text": "HEMOGLOBIN N (BALTIMORE)" }, { - "baseId": "30317", + "upstreamId": "30317", "text": "HEMOGLOBIN N (JENKINS)" }, { - "baseId": "30317", + "upstreamId": "30317", "text": "HEMOGLOBIN JENKINS" }, { - "baseId": "30317", + "upstreamId": "30317", "text": "HEMOGLOBIN HOPKINS 1" }, { - "baseId": "30317", + "upstreamId": "30317", "text": "HEMOGLOBIN KENWOOD" }, { - "baseId": "30318", + "upstreamId": "30318", "text": "HEMOGLOBIN N (MEMPHIS)" }, { - "baseId": "30319", + "upstreamId": "30319", "text": "HEMOGLOBIN N (SEATTLE)" }, { - "baseId": "30320", + "upstreamId": "30320", "text": "HEMOGLOBIN N (TIMONE)" }, { - "baseId": "30321", + "upstreamId": "30321", "text": "HEMOGLOBIN NAGASAKI" }, { - "baseId": "30322", + "upstreamId": "30322", "text": "HEMOGLOBIN NAGOYA" }, { - "baseId": "30323", + "upstreamId": "30323", "text": "HEMOGLOBIN NEVERS" }, { - "baseId": "30324", + "upstreamId": "30324", "text": "HEMOGLOBIN NEW MEXICO" }, { - "baseId": "30326", + "upstreamId": "30326", "text": "HEMOGLOBIN NEWCASTLE" }, { - "baseId": "30327", + "upstreamId": "30327", "text": "HEMOGLOBIN NITEROI" }, { - "baseId": "30328", + "upstreamId": "30328", "text": "HEMOGLOBIN NORTH CHICAGO" }, { - "baseId": "30330", + "upstreamId": "30330", "text": "HEMOGLOBIN NOTTINGHAM" }, { - "baseId": "30331", + "upstreamId": "30331", "text": "HEMOGLOBIN O (ARAB)" }, { - "baseId": "30331", + "upstreamId": "30331", "text": "HEMOGLOBIN EGYPT" }, { - "baseId": "30331", + "upstreamId": "30331", "text": "Sickle cell-Hemoglobin O Arab disease" }, { - "baseId": "30332", + "upstreamId": "30332", "text": "HEMOGLOBIN OCHO RIOS" }, { - "baseId": "30333", + "upstreamId": "30333", "text": "HEMOGLOBIN OHIO" }, { - "baseId": "30334", + "upstreamId": "30334", "text": "HEMOGLOBIN OKALOOSA" }, { - "baseId": "30335", + "upstreamId": "30335", "text": "HEMOGLOBIN OKAYAMA" }, { - "baseId": "30336", + "upstreamId": "30336", "text": "HEMOGLOBIN OKAZAKI" }, { - "baseId": "30337", + "upstreamId": "30337", "text": "HEMOGLOBIN OLMSTED" }, { - "baseId": "30338", + "upstreamId": "30338", "text": "HEMOGLOBIN OLOMOUC" }, { - "baseId": "30339", + "upstreamId": "30339", "text": "HEMOGLOBIN OLYMPIA" }, { - "baseId": "30340", + "upstreamId": "30340", "text": "HEMOGLOBIN OSLER" }, { - "baseId": "30340", + "upstreamId": "30340", "text": "HEMOGLOBIN NANCY" }, { - "baseId": "30340", + "upstreamId": "30340", "text": "HEMOGLOBIN FORT GORDON" }, { - "baseId": "30342", + "upstreamId": "30342", "text": "HEMOGLOBIN P" }, { - "baseId": "30342", + "upstreamId": "30342", "text": "HEMOGLOBIN P (GALVESTON)" }, { - "baseId": "30343", + "upstreamId": "30343", "text": "HEMOGLOBIN P (CONGO)" }, { - "baseId": "30344", + "upstreamId": "30344", "text": "HEMOGLOBIN P (NILOTIC)" }, { - "baseId": "30345", + "upstreamId": "30345", "text": "HEMOGLOBIN PALMERSTON NORTH" }, { - "baseId": "30346", + "upstreamId": "30346", "text": "HEMOGLOBIN PASADENA" }, { - "baseId": "30347", + "upstreamId": "30347", "text": "HEMOGLOBIN PERTH" }, { - "baseId": "30347", + "upstreamId": "30347", "text": "HEMOGLOBIN ABRAHAM LINCOLN" }, { - "baseId": "30347", + "upstreamId": "30347", "text": "HEMOGLOBIN KOBE" }, { - "baseId": "30348", + "upstreamId": "30348", "text": "HEMOGLOBIN PETERBOROUGH" }, { - "baseId": "30349", + "upstreamId": "30349", "text": "HEMOGLOBIN PHILLY" }, { - "baseId": "30350", + "upstreamId": "30350", "text": "HEMOGLOBIN PIERRE-BENITE" }, { - "baseId": "30351", + "upstreamId": "30351", "text": "Erythrocytosis" }, { - "baseId": "30353", + "upstreamId": "30353", "text": "HEMOGLOBIN QUIN-HAI" }, { - "baseId": "30354", + "upstreamId": "30354", "text": "HEMOGLOBIN RADCLIFFE" }, { - "baseId": "30355", + "upstreamId": "30355", "text": "HEMOGLOBIN PORTO ALEGRE" }, { - "baseId": "30356", + "upstreamId": "30356", "text": "HEMOGLOBIN POTOMAC" }, { - "baseId": "30357", + "upstreamId": "30357", "text": "HEMOGLOBIN PRESBYTERIAN" }, { - "baseId": "30358", + "upstreamId": "30358", "text": "HEMOGLOBIN PROVIDENCE" }, { - "baseId": "30359", + "upstreamId": "30359", "text": "HEMOGLOBIN PYRGOS" }, { - "baseId": "30360", + "upstreamId": "30360", "text": "HEMOGLOBIN RAHERE" }, { - "baseId": "30361", + "upstreamId": "30361", "text": "HEMOGLOBIN RAINIER" }, { - "baseId": "30362", + "upstreamId": "30362", "text": "HEMOGLOBIN RALEIGH" }, { - "baseId": "30363", + "upstreamId": "30363", "text": "HEMOGLOBIN RANDWICK" }, { - "baseId": "30364", + "upstreamId": "30364", "text": "HEMOGLOBIN REGINA" }, { - "baseId": "30365", + "upstreamId": "30365", "text": "HEMOGLOBIN RICHMOND" }, { - "baseId": "30366", + "upstreamId": "30366", "text": "HEMOGLOBIN RIO GRANDE" }, { - "baseId": "30367", + "upstreamId": "30367", "text": "HEMOGLOBIN RIVERDALE-BRONX" }, { - "baseId": "30369", + "upstreamId": "30369", "text": "HEMOGLOBIN ROSEAU-POINTE A PITRE" }, { - "baseId": "30370", + "upstreamId": "30370", "text": "HEMOGLOBIN ROTHSCHILD" }, { - "baseId": "30371", + "upstreamId": "30371", "text": "HEMOGLOBIN RUSH" }, { - "baseId": "30372", + "upstreamId": "30372", "text": "HEMOGLOBIN S" }, { - "baseId": "30372", + "upstreamId": "30372", "text": "Sickle cell disease and related diseases" }, { - "baseId": "30377", + "upstreamId": "30377", "text": "HEMOGLOBIN SABINE" }, { - "baseId": "30378", + "upstreamId": "30378", "text": "HEMOGLOBIN SAINT JACQUES" }, { - "baseId": "30379", + "upstreamId": "30379", "text": "HEMOGLOBIN SAITAMA" }, { - "baseId": "30380", + "upstreamId": "30380", "text": "HEMOGLOBIN SAKI" }, { - "baseId": "30381", + "upstreamId": "30381", "text": "HEMOGLOBIN SAN DIEGO" }, { - "baseId": "30382", + "upstreamId": "30382", "text": "HEMOGLOBIN SANTA ANA" }, { - "baseId": "30383", + "upstreamId": "30383", "text": "HEMOGLOBIN SAVANNAH" }, { - "baseId": "30384", + "upstreamId": "30384", "text": "HEMOGLOBIN SAVERNE" }, { - "baseId": "30385", + "upstreamId": "30385", "text": "HEMOGLOBIN SEATTLE" }, { - "baseId": "30387", + "upstreamId": "30387", "text": "HEMOGLOBIN SHANGHAI" }, { - "baseId": "30388", + "upstreamId": "30388", "text": "HEMOGLOBIN SHELBY" }, { - "baseId": "30388", + "upstreamId": "30388", "text": "HEMOGLOBIN LESLIE" }, { - "baseId": "30388", + "upstreamId": "30388", "text": "HEMOGLOBIN DEACONESS" }, { - "baseId": "30389", + "upstreamId": "30389", "text": "HEMOGLOBIN SHEPHERDS BUSH" }, { - "baseId": "30390", + "upstreamId": "30390", "text": "HEMOGLOBIN SHERWOOD FOREST" }, { - "baseId": "30391", + "upstreamId": "30391", "text": "HEMOGLOBIN SHOWA-YAKUSHIJI" }, { - "baseId": "30391", + "upstreamId": "30391", "text": "Beta-showa-yakushiji thalassemia" }, { - "baseId": "30393", + "upstreamId": "30393", "text": "HEMOGLOBIN ST. MANDE" }, { - "baseId": "30394", + "upstreamId": "30394", "text": "HEMOGLOBIN SOGN" }, { - "baseId": "30395", + "upstreamId": "30395", "text": "HEMOGLOBIN SOUTHAMPTON" }, { - "baseId": "30395", + "upstreamId": "30395", "text": "HEMOGLOBIN CASPER" }, { - "baseId": "30396", + "upstreamId": "30396", "text": "HEMOGLOBIN STANMORE" }, { - "baseId": "30397", + "upstreamId": "30397", "text": "HEMOGLOBIN STRASBOURG" }, { - "baseId": "30398", + "upstreamId": "30398", "text": "HEMOGLOBIN SOUTH FLORIDA" }, { - "baseId": "30399", + "upstreamId": "30399", "text": "HEMOGLOBIN ST. ANTOINE" }, { - "baseId": "30400", + "upstreamId": "30400", "text": "HEMOGLOBIN ST. LOUIS" }, { - "baseId": "30401", + "upstreamId": "30401", "text": "HEMOGLOBIN SUMMER HILL" }, { - "baseId": "30402", + "upstreamId": "30402", "text": "HEMOGLOBIN SUNNYBROOK" }, { - "baseId": "30403", + "upstreamId": "30403", "text": "HEMOGLOBIN SYDNEY" }, { - "baseId": "30404", + "upstreamId": "30404", "text": "HEMOGLOBIN SYRACUSE" }, { - "baseId": "30406", + "upstreamId": "30406", "text": "HEMOGLOBIN TA-LI" }, { - "baseId": "30409", + "upstreamId": "30409", "text": "HEMOGLOBIN TAKAMATSU" }, { - "baseId": "30410", + "upstreamId": "30410", "text": "HEMOGLOBIN TAMPA" }, { - "baseId": "30411", + "upstreamId": "30411", "text": "HEMOGLOBIN TIANSHUI" }, { - "baseId": "30412", + "upstreamId": "30412", "text": "HEMOGLOBIN TILBURG" }, { - "baseId": "30413", + "upstreamId": "30413", "text": "HEMOGLOBIN TOCHIGI" }, { - "baseId": "30414", + "upstreamId": "30414", "text": "HEMOGLOBIN TOURS" }, { - "baseId": "30415", + "upstreamId": "30415", "text": "HEMOGLOBIN TOYOAKE" }, { - "baseId": "30416", + "upstreamId": "30416", "text": "HEMOGLOBIN WILLAMETTE" }, { - "baseId": "30418", + "upstreamId": "30418", "text": "HEMOGLOBIN TUNIS" }, { - "baseId": "30419", + "upstreamId": "30419", "text": "HEMOGLOBIN TY GARD" }, { - "baseId": "30420", + "upstreamId": "30420", "text": "HEMOGLOBIN VAASA" }, { - "baseId": "30421", + "upstreamId": "30421", "text": "HEMOGLOBIN VANCOUVER" }, { - "baseId": "30422", + "upstreamId": "30422", "text": "HEMOGLOBIN VANDERBILT" }, { - "baseId": "30423", + "upstreamId": "30423", "text": "HEMOGLOBIN VICKSBURG" }, { - "baseId": "30424", + "upstreamId": "30424", "text": "HEMOGLOBIN VILLEJUIF" }, { - "baseId": "30425", + "upstreamId": "30425", "text": "HEMOGLOBIN VOLGA" }, { - "baseId": "30425", + "upstreamId": "30425", "text": "HEMOGLOBIN DRENTHE" }, { - "baseId": "30426", + "upstreamId": "30426", "text": "HEMOGLOBIN WARWICKSHIRE" }, { - "baseId": "30427", + "upstreamId": "30427", "text": "HEMOGLOBIN WIEN" }, { - "baseId": "30428", + "upstreamId": "30428", "text": "HEMOGLOBIN WINDSOR" }, { - "baseId": "30429", + "upstreamId": "30429", "text": "HEMOGLOBIN WOOD" }, { - "baseId": "30430", + "upstreamId": "30430", "text": "HEMOGLOBIN YAKIMA" }, { - "baseId": "30431", + "upstreamId": "30431", "text": "HEMOGLOBIN YAMAGATA" }, { - "baseId": "30432", + "upstreamId": "30432", "text": "HEMOGLOBIN YATSUSHIRO" }, { - "baseId": "30433", + "upstreamId": "30433", "text": "HEMOGLOBIN YOKOHAMA" }, { - "baseId": "30434", + "upstreamId": "30434", "text": "HEMOGLOBIN YORK" }, { - "baseId": "30435", + "upstreamId": "30435", "text": "HEMOGLOBIN YOSHIZUKA" }, { - "baseId": "30436", + "upstreamId": "30436", "text": "HEMOGLOBIN YPSILANTI" }, { - "baseId": "30438", + "upstreamId": "30438", "text": "HEMOGLOBIN YUSA" }, { - "baseId": "30439", + "upstreamId": "30439", "text": "Hemoglobin Zurich" }, { - "baseId": "30440|30441|30442|30444|30445|30446|30447|30452|30453|30454|30456|30457|30458|30459|30461|30462|30463|30464|30465|30466|30467|30468|30469|30470|30471|30472|30473|30475|30476|30477|30480|30481|30484|30485|30497|30543|30547|30551|30558|30599|30601|30602|34042|34043|44972|44974|47272|432675|432694|546034|546666|611303|611306|857566", + "upstreamId": "30440|30441|30442|30444|30445|30446|30447|30452|30453|30454|30456|30457|30458|30459|30461|30462|30463|30464|30465|30466|30467|30468|30469|30470|30471|30472|30473|30475|30476|30477|30480|30481|30484|30485|30497|30543|30547|30551|30558|30599|30601|30602|34042|34043|44972|44974|47272|432675|432694|546034|546666|611303|611306|857566", "text": "beta^0^ Thalassemia" }, { - "baseId": "30448", + "upstreamId": "30448", "text": "Beta-Houston-thalassemia" }, { - "baseId": "30448", + "upstreamId": "30448", "text": "Beta-plus-thalassemia, dominant" }, { - "baseId": "30450", + "upstreamId": "30450", "text": "HEMOGLOBIN CAGLIARI" }, { - "baseId": "30487|30493|30497|34042|970126", + "upstreamId": "30487|30493|30497|34042|970126", "text": "Beta thalassemia major" }, { - "baseId": "30490|30501|30503|30505|30522|30552|30553", + "upstreamId": "30490|30501|30503|30505|30522|30552|30553", "text": "Beta thalassemia intermedia" }, { - "baseId": "30517", + "upstreamId": "30517", "text": "HEMOGLOBIN BIRMINGHAM" }, { - "baseId": "30518", + "upstreamId": "30518", "text": "HEMOGLOBIN GALICIA" }, { - "baseId": "30519", + "upstreamId": "30519", "text": "HEMOGLOBIN SOUTH MILWAUKEE" }, { - "baseId": "30521", + "upstreamId": "30521", "text": "HEMOGLOBIN CALAIS" }, { - "baseId": "30523", + "upstreamId": "30523", "text": "HEMOGLOBIN IOWA" }, { - "baseId": "30525", + "upstreamId": "30525", "text": "HEMOGLOBIN ZENGCHENG" }, { - "baseId": "30526", + "upstreamId": "30526", "text": "HEMOGLOBIN TERRE HAUTE" }, { - "baseId": "30528", + "upstreamId": "30528", "text": "HEMOGLOBIN VALLETTA" }, { - "baseId": "30529", + "upstreamId": "30529", "text": "HEMOGLOBIN JACKSONVILLE" }, { - "baseId": "30530", + "upstreamId": "30530", "text": "HEMOGLOBIN CHESTERFIELD" }, { - "baseId": "30534", + "upstreamId": "30534", "text": "HEMOGLOBIN COIMBRA" }, { - "baseId": "30537", + "upstreamId": "30537", "text": "HEMOGLOBIN KODAIRA" }, { - "baseId": "30538", + "upstreamId": "30538", "text": "HEMOGLOBIN MONTREAL" }, { - "baseId": "30539", + "upstreamId": "30539", "text": "HEMOGLOBIN NIKOSIA" }, { - "baseId": "30540", + "upstreamId": "30540", "text": "HEMOGLOBIN ST. FRANCIS" }, { - "baseId": "30541", + "upstreamId": "30541", "text": "HEMOGLOBIN YAHATA" }, { - "baseId": "30542", + "upstreamId": "30542", "text": "HEMOGLOBIN RANCHO MIRAGE" }, { - "baseId": "30548", + "upstreamId": "30548", "text": "HEMOGLOBIN MUSCAT" }, { - "baseId": "30549", + "upstreamId": "30549", "text": "HEMOGLOBIN BAB-SAADOUN" }, { - "baseId": "30550", + "upstreamId": "30550", "text": "HEMOGLOBIN MANHATTAN" }, { - "baseId": "30552", + "upstreamId": "30552", "text": "HEMOGLOBIN BRESCIA" }, { - "baseId": "30552", + "upstreamId": "30552", "text": "HEMOGLOBIN DURHAM-N.C." }, { - "baseId": "30552|30639|857570", + "upstreamId": "30552|30639|857570", "text": "Beta-thalassemia dominant" }, { - "baseId": "30554", + "upstreamId": "30554", "text": "Beta-thalassemia intermedia, dominant" }, { - "baseId": "30556", + "upstreamId": "30556", "text": "HEMOGLOBIN BADEN" }, { - "baseId": "30557", + "upstreamId": "30557", "text": "HEMOGLOBIN GRAZ" }, { - "baseId": "30559", + "upstreamId": "30559", "text": "HEMOGLOBIN KARLSKOGA" }, { - "baseId": "30560", + "upstreamId": "30560", "text": "HEMOGLOBIN MUSKEGON" }, { - "baseId": "30561", + "upstreamId": "30561", "text": "HEMOGLOBIN TIGRAYE" }, { - "baseId": "30562", + "upstreamId": "30562", "text": "HEMOGLOBIN SARREBOURG" }, { - "baseId": "30563", + "upstreamId": "30563", "text": "HEMOGLOBIN SAINT NAZAIRE" }, { - "baseId": "30564", + "upstreamId": "30564", "text": "Hb camperdown" }, { - "baseId": "30566", + "upstreamId": "30566", "text": "HEMOGLOBIN MANUKAU" }, { - "baseId": "30567", + "upstreamId": "30567", "text": "HEMOGLOBIN VILLAVERDE" }, { - "baseId": "30568", + "upstreamId": "30568", "text": "HEMOGLOBIN HOWICK" }, { - "baseId": "30569", + "upstreamId": "30569", "text": "HEMOGLOBIN DENVER" }, { - "baseId": "30570", + "upstreamId": "30570", "text": "HEMOGLOBIN BECKMAN" }, { - "baseId": "30571", + "upstreamId": "30571", "text": "HEMOGLOBIN KOREA" }, { - "baseId": "30573", + "upstreamId": "30573", "text": "HEMOGLOBIN D (NEATH)" }, { - "baseId": "30574", + "upstreamId": "30574", "text": "HEMOGLOBIN WASHTENAW" }, { - "baseId": "30575", + "upstreamId": "30575", "text": "HEMOGLOBIN BRISTOL" }, { - "baseId": "30575", + "upstreamId": "30575", "text": "HEMOGLOBIN ALESHA" }, { - "baseId": "30576", + "upstreamId": "30576", "text": "HEMOGLOBIN DIEPPE" }, { - "baseId": "30577", + "upstreamId": "30577", "text": "HEMOGLOBIN HIGASHITOCHIGI" }, { - "baseId": "30577", + "upstreamId": "30577", "text": "HEMOGLOBIN HT" }, { - "baseId": "30578", + "upstreamId": "30578", "text": "HEMOGLOBIN TROLLHAETTAN" }, { - "baseId": "30579", + "upstreamId": "30579", "text": "HEMOGLOBIN TYNE" }, { - "baseId": "30583", + "upstreamId": "30583", "text": "HEMOGLOBIN HAKKARI" }, { - "baseId": "30584", + "upstreamId": "30584", "text": "HEMOGLOBIN PUTTELANGE" }, { - "baseId": "30585", + "upstreamId": "30585", "text": "HEMOGLOBIN ARTA" }, { - "baseId": "30586", + "upstreamId": "30586", "text": "HEMOGLOBIN AURORA" }, { - "baseId": "30587", + "upstreamId": "30587", "text": "HEMOGLOBIN NAKANO" }, { - "baseId": "30588", + "upstreamId": "30588", "text": "HEMOGLOBIN HINWIL" }, { - "baseId": "30589", + "upstreamId": "30589", "text": "HEMOGLOBIN DEBROUSSE" }, { - "baseId": "30591", + "upstreamId": "30591", "text": "HEMOGLOBIN TSURUMAI" }, { - "baseId": "30592", + "upstreamId": "30592", "text": "HEMOGLOBIN J (EUROPA)" }, { - "baseId": "30593", + "upstreamId": "30593", "text": "Hb aubenas" }, { - "baseId": "30595", + "upstreamId": "30595", "text": "HEMOGLOBIN COSTA RICA" }, { - "baseId": "30596", + "upstreamId": "30596", "text": "Beta-thalassemia, Ashkenazi Jewish type" }, { - "baseId": "30597", + "upstreamId": "30597", "text": "Hb niigata" }, { - "baseId": "30598", + "upstreamId": "30598", "text": "HEMOGLOBIN HOKUSETSU" }, { - "baseId": "30600", + "upstreamId": "30600", "text": "Hb gambara" }, { - "baseId": "30603", + "upstreamId": "30603", "text": "HEMOGLOBIN SILVER SPRINGS" }, { - "baseId": "30605", + "upstreamId": "30605", "text": "HEMOGLOBIN RIO CLARO" }, { - "baseId": "30606", + "upstreamId": "30606", "text": "HEMOGLOBIN NIJKERK" }, { - "baseId": "30607", + "upstreamId": "30607", "text": "HEMOGLOBIN CHILE" }, { - "baseId": "30608", + "upstreamId": "30608", "text": "HEMOGLOBIN TENDE" }, { - "baseId": "30609", + "upstreamId": "30609", "text": "HEMOGLOBIN LA ROCHE-SUR-YON" }, { - "baseId": "30610", + "upstreamId": "30610", "text": "HEMOGLOBIN IRAQ-HALABJA" }, { - "baseId": "30611", + "upstreamId": "30611", "text": "HEMOGLOBIN LUCKNOW" }, { - "baseId": "30612", + "upstreamId": "30612", "text": "HEMOGLOBIN SAGAMI" }, { - "baseId": "30613", + "upstreamId": "30613", "text": "HEMOGLOBIN HARROW" }, { - "baseId": "30614", + "upstreamId": "30614", "text": "HEMOGLOBIN BRIE COMTE ROBERT" }, { - "baseId": "30615", + "upstreamId": "30615", "text": "HEMOGLOBIN BARBIZON" }, { - "baseId": "30616", + "upstreamId": "30616", "text": "HEMOGLOBIN BOLOGNA-ST. ORSOLA" }, { - "baseId": "30617", + "upstreamId": "30617", "text": "HEMOGLOBIN VILA REAL" }, { - "baseId": "30618", + "upstreamId": "30618", "text": "HEMOGLOBIN SAALE" }, { - "baseId": "30619", + "upstreamId": "30619", "text": "HEMOGLOBIN BUSHEY" }, { - "baseId": "30621", + "upstreamId": "30621", "text": "HEMOGLOBIN TSUKUMI" }, { - "baseId": "30622", + "upstreamId": "30622", "text": "HEMOGLOBIN SITIA" }, { - "baseId": "30623", + "upstreamId": "30623", "text": "HEMOGLOBIN ERNZ" }, { - "baseId": "30624", + "upstreamId": "30624", "text": "HEMOGLOBIN RENERT" }, { - "baseId": "30626", + "upstreamId": "30626", "text": "HEMOGLOBIN WATFORD" }, { - "baseId": "30627", + "upstreamId": "30627", "text": "HEMOGLOBIN YAOUNDE" }, { - "baseId": "30628", + "upstreamId": "30628", "text": "HEMOGLOBIN MONT SAINT-AIGNAN" }, { - "baseId": "30629", + "upstreamId": "30629", "text": "HEMOGLOBIN 'T LANGE LAND" }, { - "baseId": "30631", + "upstreamId": "30631", "text": "HEMOGLOBIN ANTALYA" }, { - "baseId": "30632", + "upstreamId": "30632", "text": "HEMOGLOBIN LIMASSOL" }, { - "baseId": "30633", + "upstreamId": "30633", "text": "Thalassemia intermedia" }, { - "baseId": "30634", + "upstreamId": "30634", "text": "HEMOGLOBIN CANTERBURY" }, { - "baseId": "30636", + "upstreamId": "30636", "text": "HEMOGLOBIN MOLFETTA" }, { - "baseId": "30637", + "upstreamId": "30637", "text": "HEMOGLOBIN ILMENAU" }, { - "baseId": "30638", + "upstreamId": "30638", "text": "HEMOGLOBIN AUBAGNE" }, { - "baseId": "30640", + "upstreamId": "30640", "text": "HEMOGLOBIN KODAIRA II" }, { - "baseId": "30641", + "upstreamId": "30641", "text": "HEMOGLOBIN COLIMA" }, { - "baseId": "30642", + "upstreamId": "30642", "text": "HEMOGLOBIN POCOS DE CALDAS" }, { - "baseId": "30643", + "upstreamId": "30643", "text": "HEMOGLOBIN TRENTO" }, { - "baseId": "30644", + "upstreamId": "30644", "text": "HEMOGLOBIN SANTANDER" }, { - "baseId": "30645", + "upstreamId": "30645", "text": "HEMOGLOBIN BUZEN" }, { - "baseId": "30646", + "upstreamId": "30646", "text": "HEMOGLOBIN SANTA CLARA" }, { - "baseId": "30647", + "upstreamId": "30647", "text": "HEMOGLOBIN SPARTA" }, { - "baseId": "30650", + "upstreamId": "30650", "text": "HEMOGLOBIN CARDARELLI" }, { - "baseId": "30652", + "upstreamId": "30652", "text": "HEMOGLOBIN ROCKFORD" }, { - "baseId": "30653", + "upstreamId": "30653", "text": "HEMOGLOBIN TRIPOLI" }, { - "baseId": "30654", + "upstreamId": "30654", "text": "HEMOGLOBIN TIZI-OUZOU" }, { - "baseId": "30657", + "upstreamId": "30657", "text": "HEMOGLOBIN ZOETERWOUDE" }, { - "baseId": "30658", + "upstreamId": "30658", "text": "HEMOGLOBIN BREM-SUR-MER" }, { - "baseId": "30659", + "upstreamId": "30659", "text": "HEMOGLOBIN GELDROP ST. ANNA" }, { - "baseId": "30660", + "upstreamId": "30660", "text": "HEMOGLOBIN MARINEO" }, { - "baseId": "30661", + "upstreamId": "30661", "text": "HEMOGLOBIN LA CORUNA" }, { - "baseId": "30663", + "upstreamId": "30663", "text": "Hemoglobin constant spring" }, { - "baseId": "30663|30665|30684|30686|30690|30691|30695|30707|30731|30888|30914", + "upstreamId": "30663|30665|30684|30686|30690|30691|30695|30707|30731|30888|30914", "text": "Hemoglobin H disease, nondeletional" }, { - "baseId": "30664", + "upstreamId": "30664", "text": "HEMOGLOBIN SPANISH TOWN" }, { - "baseId": "30665", + "upstreamId": "30665", "text": "HEMOGLOBIN ICARIA" }, { - "baseId": "30666", + "upstreamId": "30666", "text": "HEMOGLOBIN KOYA DORA" }, { - "baseId": "30667", + "upstreamId": "30667", "text": "HEMOGLOBIN COLUMBIA MISSOURI" }, { - "baseId": "30667|30672|30678|30685|30750|30791|30812|30815|30822|30831|30846|30860|30861|30883|30895", + "upstreamId": "30667|30672|30678|30685|30750|30791|30812|30815|30822|30831|30846|30860|30861|30883|30895", "text": "Erythrocytosis, familial, 7" }, { - "baseId": "30668", + "upstreamId": "30668", "text": "HEMOGLOBIN WAYNE" }, { - "baseId": "30669", + "upstreamId": "30669", "text": "Hemoglobin Quong Sze" }, { - "baseId": "30670", + "upstreamId": "30670", "text": "HEMOGLOBIN EVANS" }, { - "baseId": "30671", + "upstreamId": "30671", "text": "HEMOGLOBIN SUAN-DOK" }, { - "baseId": "30672", + "upstreamId": "30672", "text": "HEMOGLOBIN J (BUDA)" }, { - "baseId": "30673", + "upstreamId": "30673", "text": "HEMOGLOBIN J (OXFORD)" }, { - "baseId": "30673", + "upstreamId": "30673", "text": "HEMOGLOBIN I (INTERLAKEN)" }, { - "baseId": "30673", + "upstreamId": "30673", "text": "HEMOGLOBIN N (COSENZA)" }, { - "baseId": "30674|30785", + "upstreamId": "30674|30785", "text": "HEMOGLOBIN I" }, { - "baseId": "30674|30785", + "upstreamId": "30674|30785", "text": "HEMOGLOBIN I (BURLINGTON)" }, { - "baseId": "30674|30785", + "upstreamId": "30674|30785", "text": "HEMOGLOBIN I (PHILADELPHIA)" }, { - "baseId": "30674|30785", + "upstreamId": "30674|30785", "text": "HEMOGLOBIN I (SKAMANIA)" }, { - "baseId": "30674|30785", + "upstreamId": "30674|30785", "text": "HEMOGLOBIN I (TEXAS)" }, { - "baseId": "30675", + "upstreamId": "30675", "text": "HEMOGLOBIN L (FERRARA)" }, { - "baseId": "30675", + "upstreamId": "30675", "text": "HEMOGLOBIN HASHARON" }, { - "baseId": "30675", + "upstreamId": "30675", "text": "HEMOGLOBIN SINAI" }, { - "baseId": "30675", + "upstreamId": "30675", "text": "HEMOGLOBIN SEALY" }, { - "baseId": "30676", + "upstreamId": "30676", "text": "HEMOGLOBIN MONTGOMERY" }, { - "baseId": "30676", + "upstreamId": "30676", "text": "HEMOGLOBIN BIRMINGHAM (USA)" }, { - "baseId": "30677", + "upstreamId": "30677", "text": "HEMOGLOBIN G (BRISTOL)" }, { - "baseId": "30677", + "upstreamId": "30677", "text": "HEMOGLOBIN D (BALTIMORE)" }, { - "baseId": "30677", + "upstreamId": "30677", "text": "HEMOGLOBIN D (ST. LOUIS)" }, { - "baseId": "30677", + "upstreamId": "30677", "text": "HEMOGLOBIN D (WASHINGTON)" }, { - "baseId": "30677", + "upstreamId": "30677", "text": "HEMOGLOBIN G (AZAKUOLI)" }, { - "baseId": "30677", + "upstreamId": "30677", "text": "HEMOGLOBIN G (KNOXVILLE)" }, { - "baseId": "30677", + "upstreamId": "30677", "text": "HEMOGLOBIN G (PHILADELPHIA)" }, { - "baseId": "30677", + "upstreamId": "30677", "text": "HEMOGLOBIN KNOXVILLE-1" }, { - "baseId": "30677", + "upstreamId": "30677", "text": "HEMOGLOBIN STANLEYVILLE-I" }, { - "baseId": "30678", + "upstreamId": "30678", "text": "HEMOGLOBIN INKSTER" }, { - "baseId": "30679", + "upstreamId": "30679", "text": "HEMOGLOBIN SUN PRAIRIE" }, { - "baseId": "30680", + "upstreamId": "30680", "text": "HEMOGLOBIN BOYLE HEIGHTS" }, { - "baseId": "30681", + "upstreamId": "30681", "text": "HEMOGLOBIN DAVENPORT" }, { - "baseId": "30685", + "upstreamId": "30685", "text": "HEMOGLOBIN HANAMAKI" }, { - "baseId": "30686", + "upstreamId": "30686", "text": "Alpha-thalassemia-2, nondeletional" }, { - "baseId": "30687", + "upstreamId": "30687", "text": "HEMOGLOBIN KURDISTAN" }, { - "baseId": "30688|30707", + "upstreamId": "30688|30707", "text": "HEMOGLOBIN CLINICO-MADRID" }, { - "baseId": "30689", + "upstreamId": "30689", "text": "HEMOGLOBIN PARK RIDGE" }, { - "baseId": "30690", + "upstreamId": "30690", "text": "HEMOGLOBIN AGRINIO" }, { - "baseId": "30692", + "upstreamId": "30692", "text": "HEMOGLOBIN SEAL ROCK" }, { - "baseId": "30693", + "upstreamId": "30693", "text": "HEMOGLOBIN ANAMOSA" }, { - "baseId": "30695", + "upstreamId": "30695", "text": "HEMOGLOBIN SALLANCHES" }, { - "baseId": "30696", + "upstreamId": "30696", "text": "Alpha trait thalassemia" }, { - "baseId": "30697", + "upstreamId": "30697", "text": "HEMOGLOBIN NATAL" }, { - "baseId": "30698", + "upstreamId": "30698", "text": "HEMOGLOBIN WATTS" }, { - "baseId": "30699", + "upstreamId": "30699", "text": "HEMOGLOBIN CONAKRY" }, { - "baseId": "30700", + "upstreamId": "30700", "text": "HEMOGLOBIN J (SARDEGNA)" }, { - "baseId": "30701", + "upstreamId": "30701", "text": "HEMOGLOBIN TARRANT" }, { - "baseId": "30702", + "upstreamId": "30702", "text": "HEMOGLOBIN ANTANANARIVO" }, { - "baseId": "30703", + "upstreamId": "30703", "text": "HEMOGLOBIN BOGHE" }, { - "baseId": "30704", + "upstreamId": "30704", "text": "HEMOGLOBIN TOULON" }, { - "baseId": "30705", + "upstreamId": "30705", "text": "HEMOGLOBIN CAMPINAS" }, { - "baseId": "30706", + "upstreamId": "30706", "text": "HEMOGLOBIN NIKAIA" }, { - "baseId": "30708", + "upstreamId": "30708", "text": "HEMOGLOBIN DARTMOUTH" }, { - "baseId": "30709", + "upstreamId": "30709", "text": "HEMOGLOBIN GERLAND" }, { - "baseId": "30710", + "upstreamId": "30710", "text": "HEMOGLOBIN MANITOBA" }, { - "baseId": "30711", + "upstreamId": "30711", "text": "HEMOGLOBIN NORTON" }, { - "baseId": "30712", + "upstreamId": "30712", "text": "HEMOGLOBIN LOMBARD" }, { - "baseId": "30713", + "upstreamId": "30713", "text": "HEMOGLOBIN SAN ANTONIO" }, { - "baseId": "30714", + "upstreamId": "30714", "text": "HEMOGLOBIN RAMPA" }, { - "baseId": "30715", + "upstreamId": "30715", "text": "HEMOGLOBIN MANAWATU" }, { - "baseId": "30716", + "upstreamId": "30716", "text": "HEMOGLOBIN G (HONOLULU)" }, { - "baseId": "30716", + "upstreamId": "30716", "text": "HEMOGLOBIN G (HONG KONG)" }, { - "baseId": "30716", + "upstreamId": "30716", "text": "HEMOGLOBIN G (SINGAPORE)" }, { - "baseId": "30716", + "upstreamId": "30716", "text": "HEMOGLOBIN G (CHINESE)" }, { - "baseId": "30718|30726|30727|30918|30919", + "upstreamId": "30718|30726|30727|30918|30919", "text": "Alpha plus thalassemia" }, { - "baseId": "30719", + "upstreamId": "30719", "text": "Alpha-thalassemia, zf type" }, { - "baseId": "30720", + "upstreamId": "30720", "text": "HEMOGLOBIN CHARTRES" }, { - "baseId": "30721", + "upstreamId": "30721", "text": "HEMOGLOBIN FUKUI" }, { - "baseId": "30722", + "upstreamId": "30722", "text": "HEMOGLOBIN PART-DIEU" }, { - "baseId": "30723", + "upstreamId": "30723", "text": "HEMOGLOBIN DECINES-CHARPIEU" }, { - "baseId": "30724", + "upstreamId": "30724", "text": "Hemoglobin Val de Marne" }, { - "baseId": "30727", + "upstreamId": "30727", "text": "HEMOGLOBIN ZURICH ALBISRIEDEN" }, { - "baseId": "30728", + "upstreamId": "30728", "text": "HEMOGLOBIN PASSY" }, { - "baseId": "30729", + "upstreamId": "30729", "text": "HEMOGLOBIN PLASENCIA" }, { - "baseId": "30730", + "upstreamId": "30730", "text": "HEMOGLOBIN KUROSAKI" }, { - "baseId": "30732", + "upstreamId": "30732", "text": "HEMOGLOBIN AL-HAMMADI RIYADH" }, { - "baseId": "30733", + "upstreamId": "30733", "text": "Alpha-thalassemia, Hmong type" }, { - "baseId": "30734", + "upstreamId": "30734", "text": "HEMOGLOBIN AICHI" }, { - "baseId": "30735", + "upstreamId": "30735", "text": "HEMOGLOBIN ALBANY-GEORGIA" }, { - "baseId": "30735", + "upstreamId": "30735", "text": "HEMOGLOBIN ALBANY-SUMA" }, { - "baseId": "30736", + "upstreamId": "30736", "text": "HEMOGLOBIN ANANTHARAJ" }, { - "baseId": "30737", + "upstreamId": "30737", "text": "HEMOGLOBIN ANN ARBOR" }, { - "baseId": "30738", + "upstreamId": "30738", "text": "HEMOGLOBIN ARYA" }, { - "baseId": "30739", + "upstreamId": "30739", "text": "HEMOGLOBIN ATAGO" }, { - "baseId": "30740", + "upstreamId": "30740", "text": "HEMOGLOBIN ATTLEBORO" }, { - "baseId": "30741", + "upstreamId": "30741", "text": "HEMOGLOBIN AZTEC" }, { - "baseId": "30742", + "upstreamId": "30742", "text": "HEMOGLOBIN BARI" }, { - "baseId": "30743", + "upstreamId": "30743", "text": "HEMOGLOBIN BEIJING" }, { - "baseId": "30745", + "upstreamId": "30745", "text": "HEMOGLOBIN BOURMEDES" }, { - "baseId": "30746", + "upstreamId": "30746", "text": "HEMOGLOBIN BROUSSAIS" }, { - "baseId": "30746", + "upstreamId": "30746", "text": "HEMOGLOBIN J (BROUSSAIS)" }, { - "baseId": "30746", + "upstreamId": "30746", "text": "HEMOGLOBIN TAGAWA I" }, { - "baseId": "30747", + "upstreamId": "30747", "text": "HEMOGLOBIN CATONSVILLE" }, { - "baseId": "30748", + "upstreamId": "30748", "text": "HEMOGLOBIN CHAD" }, { - "baseId": "30749", + "upstreamId": "30749", "text": "HEMOGLOBIN CHAPEL HILL" }, { - "baseId": "30750", + "upstreamId": "30750", "text": "HEMOGLOBIN CHESAPEAKE" }, { - "baseId": "30751", + "upstreamId": "30751", "text": "HEMOGLOBIN CHIAPAS" }, { - "baseId": "30752", + "upstreamId": "30752", "text": "HEMOGLOBIN CHICAGO" }, { - "baseId": "30753", + "upstreamId": "30753", "text": "HEMOGLOBIN CHONGQING" }, { - "baseId": "30754", + "upstreamId": "30754", "text": "HEMOGLOBIN CONTALDO" }, { - "baseId": "30755", + "upstreamId": "30755", "text": "HEMOGLOBIN CORDELE" }, { - "baseId": "30756", + "upstreamId": "30756", "text": "HEMOGLOBIN DAGESTAN" }, { - "baseId": "30757", + "upstreamId": "30757", "text": "HEMOGLOBIN DALLAS" }, { - "baseId": "30758", + "upstreamId": "30758", "text": "HEMOGLOBIN DANESHGAH-TEHRAN" }, { - "baseId": "30759", + "upstreamId": "30759", "text": "HEMOGLOBIN DENMARK HILL" }, { - "baseId": "30760", + "upstreamId": "30760", "text": "HEMOGLOBIN DUAN" }, { - "baseId": "30761", + "upstreamId": "30761", "text": "HEMOGLOBIN DUNN" }, { - "baseId": "30762", + "upstreamId": "30762", "text": "HEMOGLOBIN ETOBICOKE" }, { - "baseId": "30764", + "upstreamId": "30764", "text": "HEMOGLOBIN FERNDOWN" }, { - "baseId": "30765", + "upstreamId": "30765", "text": "HEMOGLOBIN FONTAINEBLEAU" }, { - "baseId": "30766", + "upstreamId": "30766", "text": "HEMOGLOBIN FORT DE FRANCE" }, { - "baseId": "30767", + "upstreamId": "30767", "text": "HEMOGLOBIN G (AUDHALI)" }, { - "baseId": "30768", + "upstreamId": "30768", "text": "HEMOGLOBIN G (FORT WORTH)" }, { - "baseId": "30768", + "upstreamId": "30768", "text": "HEMOGLOBIN FORT WORTH" }, { - "baseId": "30769", + "upstreamId": "30769", "text": "HEMOGLOBIN G (GEORGIA)" }, { - "baseId": "30770", + "upstreamId": "30770", "text": "HEMOGLOBIN G (NORFOLK)" }, { - "baseId": "30771", + "upstreamId": "30771", "text": "HEMOGLOBIN G (PEST)" }, { - "baseId": "30772", + "upstreamId": "30772", "text": "HEMOGLOBIN G (TAICHUNG)" }, { - "baseId": "30772", + "upstreamId": "30772", "text": "HEMOGLOBIN Q" }, { - "baseId": "30772", + "upstreamId": "30772", "text": "HEMOGLOBIN Q (THAILAND)" }, { - "baseId": "30772", + "upstreamId": "30772", "text": "HEMOGLOBIN MAHIDOL" }, { - "baseId": "30772", + "upstreamId": "30772", "text": "HEMOGLOBIN ASABARA" }, { - "baseId": "30772", + "upstreamId": "30772", "text": "HEMOGLOBIN KURASHIKI" }, { - "baseId": "30773", + "upstreamId": "30773", "text": "HEMOGLOBIN G (WAIMANALO)" }, { - "baseId": "30773", + "upstreamId": "30773", "text": "HEMOGLOBIN AIDA" }, { - "baseId": "30774", + "upstreamId": "30774", "text": "HEMOGLOBIN GARDEN STATE" }, { - "baseId": "30775", + "upstreamId": "30775", "text": "HEMOGLOBIN HANDSWORTH" }, { - "baseId": "30776", + "upstreamId": "30776", "text": "HEMOGLOBIN GRADY" }, { - "baseId": "30776", + "upstreamId": "30776", "text": "HEMOGLOBIN DAKAR" }, { - "baseId": "30777", + "upstreamId": "30777", "text": "HEMOGLOBIN GUANGZHOU" }, { - "baseId": "30777", + "upstreamId": "30777", "text": "HEMOGLOBIN HANGZHOU" }, { - "baseId": "30778", + "upstreamId": "30778", "text": "HEMOGLOBIN GUIZHOU" }, { - "baseId": "30778", + "upstreamId": "30778", "text": "HEMOGLOBIN UTSUNOMIYA" }, { - "baseId": "30779", + "upstreamId": "30779", "text": "HEMOGLOBIN HANDA" }, { - "baseId": "30779", + "upstreamId": "30779", "text": "HEMOGLOBIN MUNAKATA" }, { - "baseId": "30780", + "upstreamId": "30780", "text": "HEMOGLOBIN HARBIN" }, { - "baseId": "30781", + "upstreamId": "30781", "text": "HEMOGLOBIN HEKINAN" }, { - "baseId": "30782", + "upstreamId": "30782", "text": "HEMOGLOBIN HIROSAKI" }, { - "baseId": "30783", + "upstreamId": "30783", "text": "HEMOGLOBIN HOBART" }, { - "baseId": "30784", + "upstreamId": "30784", "text": "HEMOGLOBIN HOPKINS 2" }, { - "baseId": "30786", + "upstreamId": "30786", "text": "HEMOGLOBIN IWATA" }, { - "baseId": "30787", + "upstreamId": "30787", "text": "HEMOGLOBIN J (ABIDJAN)" }, { - "baseId": "30788", + "upstreamId": "30788", "text": "HEMOGLOBIN J (ANATOLIA)" }, { - "baseId": "30789", + "upstreamId": "30789", "text": "HEMOGLOBIN J (BIRMINGHAM)" }, { - "baseId": "30789", + "upstreamId": "30789", "text": "HEMOGLOBIN J (MEERUT)" }, { - "baseId": "30790", + "upstreamId": "30790", "text": "HEMOGLOBIN J (CAMAGUEY)" }, { - "baseId": "30791", + "upstreamId": "30791", "text": "HEMOGLOBIN J (CAPE TOWN)" }, { - "baseId": "30792", + "upstreamId": "30792", "text": "HEMOGLOBIN J (CUBUJUQUI)" }, { - "baseId": "30793", + "upstreamId": "30793", "text": "HEMOGLOBIN J (HABANA)" }, { - "baseId": "30794", + "upstreamId": "30794", "text": "HEMOGLOBIN J (KUROSH)" }, { - "baseId": "30795", + "upstreamId": "30795", "text": "HEMOGLOBIN J (MEDELLIN)" }, { - "baseId": "30796", + "upstreamId": "30796", "text": "HEMOGLOBIN J (NYANZA)" }, { - "baseId": "30797", + "upstreamId": "30797", "text": "HEMOGLOBIN J (PARIS 1)" }, { - "baseId": "30797", + "upstreamId": "30797", "text": "HEMOGLOBIN J (ALJEZUR)" }, { - "baseId": "30798", + "upstreamId": "30798", "text": "HEMOGLOBIN J (RAJAPPEN)" }, { - "baseId": "30799", + "upstreamId": "30799", "text": "HEMOGLOBIN J (ROVIGO)" }, { - "baseId": "30800", + "upstreamId": "30800", "text": "HEMOGLOBIN J (SINGA)" }, { - "baseId": "30802", + "upstreamId": "30802", "text": "HEMOGLOBIN J (TASHIKUERGAN)" }, { - "baseId": "30803", + "upstreamId": "30803", "text": "HEMOGLOBIN J (TONGARIKI)" }, { - "baseId": "30804", + "upstreamId": "30804", "text": "HEMOGLOBIN J (TORONTO)" }, { - "baseId": "30805", + "upstreamId": "30805", "text": "HEMOGLOBIN JACKSON" }, { - "baseId": "30806", + "upstreamId": "30806", "text": "HEMOGLOBIN KARACHI" }, { - "baseId": "30807", + "upstreamId": "30807", "text": "HEMOGLOBIN KARIYA" }, { - "baseId": "30808", + "upstreamId": "30808", "text": "HEMOGLOBIN KAWACHI" }, { - "baseId": "30809", + "upstreamId": "30809", "text": "HEMOGLOBIN KOELLIKER" }, { - "baseId": "30809", + "upstreamId": "30809", "text": "HEMOGLOBIN F (KOELLIKER)" }, { - "baseId": "30810", + "upstreamId": "30810", "text": "HEMOGLOBIN KOKURA" }, { - "baseId": "30810", + "upstreamId": "30810", "text": "HEMOGLOBIN BEILINSON" }, { - "baseId": "30810", + "upstreamId": "30810", "text": "HEMOGLOBIN MICHIGAN-I" }, { - "baseId": "30810", + "upstreamId": "30810", "text": "HEMOGLOBIN MICHIGAN-II" }, { - "baseId": "30810", + "upstreamId": "30810", "text": "HEMOGLOBIN L (GASLINI)" }, { - "baseId": "30810", + "upstreamId": "30810", "text": "HEMOGLOBIN TAGAWA II" }, { - "baseId": "30810", + "upstreamId": "30810", "text": "HEMOGLOBIN UMI" }, { - "baseId": "30810", + "upstreamId": "30810", "text": "HEMOGLOBIN MUGINO" }, { - "baseId": "30810", + "upstreamId": "30810", "text": "HEMOGLOBIN YUKUHASHI-2" }, { - "baseId": "30811", + "upstreamId": "30811", "text": "HEMOGLOBIN L (PERSIAN GULF)" }, { - "baseId": "30812", + "upstreamId": "30812", "text": "HEMOGLOBIN LEGNANO" }, { - "baseId": "30813", + "upstreamId": "30813", "text": "HEMOGLOBIN LE LAMENTIN" }, { - "baseId": "30814", + "upstreamId": "30814", "text": "HEMOGLOBIN LILLE" }, { - "baseId": "30815", + "upstreamId": "30815", "text": "HEMOGLOBIN LOIRE" }, { - "baseId": "30816", + "upstreamId": "30816", "text": "HEMOGLOBIN LUXEMBOURG" }, { - "baseId": "30817", + "upstreamId": "30817", "text": "HEMOGLOBIN M (BOSTON)" }, { - "baseId": "30817", + "upstreamId": "30817", "text": "HEMOGLOBIN GOTHENBURG" }, { - "baseId": "30817", + "upstreamId": "30817", "text": "HEMOGLOBIN M (GOTHENBURG)" }, { - "baseId": "30817", + "upstreamId": "30817", "text": "HEMOGLOBIN M (OSAKA)" }, { - "baseId": "30817", + "upstreamId": "30817", "text": "HEMOGLOBIN M (KISKUNHALAS)" }, { - "baseId": "30818", + "upstreamId": "30818", "text": "HEMOGLOBIN M (IWATE)" }, { - "baseId": "30818", + "upstreamId": "30818", "text": "HEMOGLOBIN M (KANKAKEE)" }, { - "baseId": "30818", + "upstreamId": "30818", "text": "HEMOGLOBIN M (OLDENBURG)" }, { - "baseId": "30818", + "upstreamId": "30818", "text": "HEMOGLOBIN M (SENDAI)" }, { - "baseId": "30819", + "upstreamId": "30819", "text": "HEMOGLOBIN MATSUE-OKI" }, { - "baseId": "30820", + "upstreamId": "30820", "text": "HEMOGLOBIN MEMPHIS" }, { - "baseId": "30821", + "upstreamId": "30821", "text": "HEMOGLOBIN MEXICO" }, { - "baseId": "30821", + "upstreamId": "30821", "text": "HEMOGLOBIN J" }, { - "baseId": "30821", + "upstreamId": "30821", "text": "HEMOGLOBIN J (MEXICO)" }, { - "baseId": "30821", + "upstreamId": "30821", "text": "HEMOGLOBIN J (PARIS 2)" }, { - "baseId": "30821", + "upstreamId": "30821", "text": "HEMOGLOBIN UPPSALA" }, { - "baseId": "30822", + "upstreamId": "30822", "text": "HEMOGLOBIN MILLEDGEVILLE" }, { - "baseId": "30823", + "upstreamId": "30823", "text": "HEMOGLOBIN MIYANO" }, { - "baseId": "30824", + "upstreamId": "30824", "text": "HEMOGLOBIN MIZUSHI" }, { - "baseId": "30825", + "upstreamId": "30825", "text": "HEMOGLOBIN MOABIT" }, { - "baseId": "30826", + "upstreamId": "30826", "text": "HEMOGLOBIN NECKER ENFANTS-MALADES" }, { - "baseId": "30827", + "upstreamId": "30827", "text": "HEMOGLOBIN NIGERIA" }, { - "baseId": "30828", + "upstreamId": "30828", "text": "HEMOGLOBIN NOKO" }, { - "baseId": "30829", + "upstreamId": "30829", "text": "HEMOGLOBIN NORFOLK" }, { - "baseId": "30829", + "upstreamId": "30829", "text": "HEMOGLOBIN J (NORFOLK)" }, { - "baseId": "30829", + "upstreamId": "30829", "text": "HEMOGLOBIN KAGOSHIMA" }, { - "baseId": "30829", + "upstreamId": "30829", "text": "HEMOGLOBIN NISHIK" }, { - "baseId": "30830", + "upstreamId": "30830", "text": "HEMOGLOBIN NOUAKCHOTT" }, { - "baseId": "30831", + "upstreamId": "30831", "text": "HEMOGLOBIN NUNOBIKI" }, { - "baseId": "30832", + "upstreamId": "30832", "text": "HEMOGLOBIN O (INDONESIA)" }, { - "baseId": "30832", + "upstreamId": "30832", "text": "HEMOGLOBIN O (BUGINESE-X)" }, { - "baseId": "30832", + "upstreamId": "30832", "text": "HEMOGLOBIN BUGINESE-X" }, { - "baseId": "30832", + "upstreamId": "30832", "text": "HEMOGLOBIN O (OLIVIERE)" }, { - "baseId": "30832", + "upstreamId": "30832", "text": "HEMOGLOBIN OLIVIERE" }, { - "baseId": "30833", + "upstreamId": "30833", "text": "HEMOGLOBIN O (PADOVA)" }, { - "baseId": "30834", + "upstreamId": "30834", "text": "HEMOGLOBIN OGI" }, { - "baseId": "30834", + "upstreamId": "30834", "text": "HEMOGLOBIN QUEENS" }, { - "baseId": "30835", + "upstreamId": "30835", "text": "HEMOGLOBIN OLEANDER" }, { - "baseId": "30836", + "upstreamId": "30836", "text": "HEMOGLOBIN OTTAWA" }, { - "baseId": "30836", + "upstreamId": "30836", "text": "HEMOGLOBIN SIAM" }, { - "baseId": "30837", + "upstreamId": "30837", "text": "HEMOGLOBIN OWARI" }, { - "baseId": "30838", + "upstreamId": "30838", "text": "HEMOGLOBIN PERSPOLIS" }, { - "baseId": "30839", + "upstreamId": "30839", "text": "HEMOGLOBIN PETAH TIKVA" }, { - "baseId": "30840", + "upstreamId": "30840", "text": "HEMOGLOBIN PONTOISE" }, { - "baseId": "30840", + "upstreamId": "30840", "text": "HEMOGLOBIN J (PONTOISE)" }, { - "baseId": "30841", + "upstreamId": "30841", "text": "HEMOGLOBIN PORT PHILLIP" }, { - "baseId": "30842", + "upstreamId": "30842", "text": "HEMOGLOBIN Q (INDIA)" }, { - "baseId": "30843", + "upstreamId": "30843", "text": "HEMOGLOBIN Q (IRAN)" }, { - "baseId": "30844", + "upstreamId": "30844", "text": "HEMOGLOBIN REIMS" }, { - "baseId": "30845", + "upstreamId": "30845", "text": "HEMOGLOBIN RUSS" }, { - "baseId": "30846", + "upstreamId": "30846", "text": "HEMOGLOBIN SASSARI" }, { - "baseId": "30847", + "upstreamId": "30847", "text": "HEMOGLOBIN SAVARIA" }, { - "baseId": "30848", + "upstreamId": "30848", "text": "HEMOGLOBIN SAWARA" }, { - "baseId": "30849", + "upstreamId": "30849", "text": "HEMOGLOBIN SETIF" }, { - "baseId": "30850", + "upstreamId": "30850", "text": "HEMOGLOBIN SHAARE ZEDEK" }, { - "baseId": "30851", + "upstreamId": "30851", "text": "HEMOGLOBIN SHENYANG" }, { - "baseId": "30852", + "upstreamId": "30852", "text": "HEMOGLOBIN SHIMONOSEKI" }, { - "baseId": "30852", + "upstreamId": "30852", "text": "HEMOGLOBIN HIKOSHIMA" }, { - "baseId": "30853", + "upstreamId": "30853", "text": "HEMOGLOBIN SHUANGFENG" }, { - "baseId": "30854", + "upstreamId": "30854", "text": "HEMOGLOBIN SINGAPORE" }, { - "baseId": "30855", + "upstreamId": "30855", "text": "HEMOGLOBIN ST. CLAUDE" }, { - "baseId": "30856", + "upstreamId": "30856", "text": "HEMOGLOBIN ST. LUKE'S" }, { - "baseId": "30857", + "upstreamId": "30857", "text": "HEMOGLOBIN STANLEYVILLE-II" }, { - "baseId": "30858", + "upstreamId": "30858", "text": "HEMOGLOBIN STRUMICA" }, { - "baseId": "30858", + "upstreamId": "30858", "text": "HEMOGLOBIN SERBIA" }, { - "baseId": "30859", + "upstreamId": "30859", "text": "HEMOGLOBIN SUNSHINE SETH" }, { - "baseId": "30860", + "upstreamId": "30860", "text": "HEMOGLOBIN SURESNES" }, { - "baseId": "30861", + "upstreamId": "30861", "text": "HEMOGLOBIN SWAN RIVER" }, { - "baseId": "30862", + "upstreamId": "30862", "text": "HEMOGLOBIN THAILAND" }, { - "baseId": "30863", + "upstreamId": "30863", "text": "HEMOGLOBIN TITUSVILLE" }, { - "baseId": "30864", + "upstreamId": "30864", "text": "HEMOGLOBIN TOKONAME" }, { - "baseId": "30865", + "upstreamId": "30865", "text": "HEMOGLOBIN TORINO" }, { - "baseId": "30866", + "upstreamId": "30866", "text": "HEMOGLOBIN TOTTORI" }, { - "baseId": "30867", + "upstreamId": "30867", "text": "HEMOGLOBIN TOYAMA" }, { - "baseId": "30868", + "upstreamId": "30868", "text": "HEMOGLOBIN TWIN PEAKS" }, { - "baseId": "30869", + "upstreamId": "30869", "text": "HEMOGLOBIN WUMING" }, { - "baseId": "30869", + "upstreamId": "30869", "text": "HEMOGLOBIN J (WENCHANG-WUMING)" }, { - "baseId": "30870", + "upstreamId": "30870", "text": "HEMOGLOBIN UBE-2" }, { - "baseId": "30871", + "upstreamId": "30871", "text": "HEMOGLOBIN UBE-4" }, { - "baseId": "30872", + "upstreamId": "30872", "text": "HEMOGLOBIN WESTMEAD" }, { - "baseId": "30873", + "upstreamId": "30873", "text": "HEMOGLOBIN WINNIPEG" }, { - "baseId": "30874", + "upstreamId": "30874", "text": "HEMOGLOBIN WOODVILLE" }, { - "baseId": "30875", + "upstreamId": "30875", "text": "HEMOGLOBIN ZAMBIA" }, { - "baseId": "30876", + "upstreamId": "30876", "text": "HEMOGLOBIN BELLIARD" }, { - "baseId": "30877", + "upstreamId": "30877", "text": "HEMOGLOBIN TONOSHO" }, { - "baseId": "30878", + "upstreamId": "30878", "text": "HEMOGLOBIN FUKUTOMI" }, { - "baseId": "30879", + "upstreamId": "30879", "text": "HEMOGLOBIN PORT HURON" }, { - "baseId": "30880", + "upstreamId": "30880", "text": "HEMOGLOBIN PAVIE" }, { - "baseId": "30881", + "upstreamId": "30881", "text": "HEMOGLOBIN QUESTEMBERT" }, { - "baseId": "30882", + "upstreamId": "30882", "text": "HEMOGLOBIN THIONVILLE" }, { - "baseId": "30883", + "upstreamId": "30883", "text": "HEMOGLOBIN KANAGAWA" }, { - "baseId": "30884", + "upstreamId": "30884", "text": "HEMOGLOBIN TURRIFF" }, { - "baseId": "30885", + "upstreamId": "30885", "text": "HEMOGLOBIN ZAIRE" }, { - "baseId": "30886", + "upstreamId": "30886", "text": "HEMOGLOBIN LUTON" }, { - "baseId": "30887", + "upstreamId": "30887", "text": "HEMOGLOBIN OZIERI" }, { - "baseId": "30888", + "upstreamId": "30888", "text": "HEMOGLOBIN ADANA" }, { - "baseId": "30889", + "upstreamId": "30889", "text": "HEMOGLOBIN AL-AIN ABU DHABI" }, { - "baseId": "30890", + "upstreamId": "30890", "text": "HEMOGLOBIN POITIERS" }, { - "baseId": "30891", + "upstreamId": "30891", "text": "HEMOGLOBIN CAEN" }, { - "baseId": "30892", + "upstreamId": "30892", "text": "HEMOGLOBIN YUDA" }, { - "baseId": "30893", + "upstreamId": "30893", "text": "HEMOGLOBIN CAPA" }, { - "baseId": "30894", + "upstreamId": "30894", "text": "HEMOGLOBIN MONTEFIORE" }, { - "baseId": "30895", + "upstreamId": "30895", "text": "HEMOGLOBIN ROUEN" }, { - "baseId": "30895", + "upstreamId": "30895", "text": "HEMOGLOBIN ETHIOPIA" }, { - "baseId": "30896", + "upstreamId": "30896", "text": "HEMOGLOBIN MELUSINE" }, { - "baseId": "30897", + "upstreamId": "30897", "text": "HEMOGLOBIN TAYBE" }, { - "baseId": "30898", + "upstreamId": "30898", "text": "HEMOGLOBIN CEMENELUM" }, { - "baseId": "30899", + "upstreamId": "30899", "text": "HEMOGLOBIN RAMONA" }, { - "baseId": "30900", + "upstreamId": "30900", "text": "HEMOGLOBIN TATRAS" }, { - "baseId": "30901", + "upstreamId": "30901", "text": "HEMOGLOBIN LISBON" }, { - "baseId": "30902", + "upstreamId": "30902", "text": "HEMOGLOBIN ROANNE" }, { - "baseId": "30903", + "upstreamId": "30903", "text": "HEMOGLOBIN MALHACEN" }, { - "baseId": "30904", + "upstreamId": "30904", "text": "HEMOGLOBIN TUNIS-BIZERTE" }, { - "baseId": "30905", + "upstreamId": "30905", "text": "HEMOGLOBIN BOIS GUILLAUME" }, { - "baseId": "30906", + "upstreamId": "30906", "text": "HEMOGLOBIN MANTES-LA-JOLIE" }, { - "baseId": "30907", + "upstreamId": "30907", "text": "HEMOGLOBIN MOSELLA" }, { - "baseId": "30908", + "upstreamId": "30908", "text": "HEMOGLOBIN FUCHU-I" }, { - "baseId": "30909", + "upstreamId": "30909", "text": "HEMOGLOBIN FUCHU-II" }, { - "baseId": "30910", + "upstreamId": "30910", "text": "HEMOGLOBIN GOUDA" }, { - "baseId": "30911", + "upstreamId": "30911", "text": "HEMOGLOBIN J (BISKRA)" }, { - "baseId": "30912", + "upstreamId": "30912", "text": "HEMOGLOBIN GODAVARI" }, { - "baseId": "30913", + "upstreamId": "30913", "text": "HEMOGLOBIN OITA" }, { - "baseId": "30914", + "upstreamId": "30914", "text": "HEMOGLOBIN AGHIA SOPHIA" }, { - "baseId": "30915", + "upstreamId": "30915", "text": "HEMOGLOBIN CHAROLLES" }, { - "baseId": "30916", + "upstreamId": "30916", "text": "HEMOGLOBIN ROUBAIX" }, { - "baseId": "30917", + "upstreamId": "30917", "text": "HEMOGLOBIN DOUALA" }, { - "baseId": "30920", + "upstreamId": "30920", "text": "HEMOGLOBIN DELFZICHT" }, { - "baseId": "30921", + "upstreamId": "30921", "text": "HEMOGLOBIN SARATOGA SPRINGS" }, { - "baseId": "30922", + "upstreamId": "30922", "text": "HEMOGLOBIN DIE" }, { - "baseId": "30923", + "upstreamId": "30923", "text": "HEMOGLOBIN BEZIERS" }, { - "baseId": "30924", + "upstreamId": "30924", "text": "HEMOGLOBIN BUFFALO" }, { - "baseId": "30925", + "upstreamId": "30925", "text": "HEMOGLOBIN VILLEURBANNE" }, { - "baseId": "30926", + "upstreamId": "30926", "text": "HEMOGLOBIN TOKYO" }, { - "baseId": "30927", + "upstreamId": "30927", "text": "HEMOGLOBIN TAMANO" }, { - "baseId": "30928", + "upstreamId": "30928", "text": "HEMOGLOBIN RICCARTON" }, { - "baseId": "30929", + "upstreamId": "30929", "text": "HEMOGLOBIN OEGSTGEEST" }, { - "baseId": "30930", + "upstreamId": "30930", "text": "HEMOGLOBIN LAMEN ISLAND" }, { - "baseId": "30932", + "upstreamId": "30932", "text": "HEMOGLOBIN AUCKLAND" }, { - "baseId": "30934|30935", + "upstreamId": "30934|30935", "text": "Heme oxygenase 1 deficiency" }, { - "baseId": "30936", + "upstreamId": "30936", "text": "Pulmonary disease, chronic obstructive, susceptibility to" }, { - "baseId": "30937", + "upstreamId": "30937", "text": "HAPTOGLOBIN, ALPHA-1, FAST-SLOW POLYMORPHISM" }, { - "baseId": "30938", + "upstreamId": "30938", "text": "Haptoglobin, alpha-2" }, { - "baseId": "30939|30940|30941|227380", + "upstreamId": "30939|30940|30941|227380", "text": "Anhaptoglobinemia" }, { - "baseId": "30939", + "upstreamId": "30939", "text": "Hypohaptoglobinemia" }, { - "baseId": "30942|30943", + "upstreamId": "30942|30943", "text": "Granulosa cell tumor of the ovary" }, { - "baseId": "30942|30943", + "upstreamId": "30942|30943", "text": "Thecoma, somatic" }, { - "baseId": "30945", + "upstreamId": "30945", "text": "Ventricular tachycardia, somatic" }, { - "baseId": "30949|30955|30956|77518|77520|77561|317865|317866|317877|317878|317884|317886|317888|317890|317901|317902|325742|325744|325757|325760|331990|331994|331999|332000|332003|332006|332018|332032|332034|333500|333506|333512|333518|870136|870137|870138|870139|870140|870141|870142|870143|872262", + "upstreamId": "30949|30955|30956|77518|77520|77561|317865|317866|317877|317878|317884|317886|317888|317890|317901|317902|325742|325744|325757|325760|331990|331994|331999|332000|332003|332006|332018|332032|332034|333500|333506|333512|333518|870136|870137|870138|870139|870140|870141|870142|870143|872262", "text": "Nonepidermolytic palmoplantar keratoderma" }, { - "baseId": "30957", + "upstreamId": "30957", "text": "Keratosis palmoplantaris striata 3" }, { - "baseId": "30958", + "upstreamId": "30958", "text": "Ichthyosis histrix, curth-macklin type" }, { - "baseId": "30960", + "upstreamId": "30960", "text": "Epidermolytic hyperkeratosis, late-onset" }, { - "baseId": "30961|30962|30963|30964|192402|194412|195978|249359|249360|249361|275830|275837|275838|275972|276046|276047|276058|276059|276074|513227|612232|612233|612234|612235|612236|612237|612238|612239|612240|612241|612242|612243|612244|612245|612246|612247|612248|612249|612250|800346|861875|861876|861877|861878|861879|861880|861881|864958|864959|864960", + "upstreamId": "30961|30962|30963|30964|192402|194412|195978|249359|249360|249361|275830|275837|275838|275972|276046|276047|276058|276059|276074|513227|612232|612233|612234|612235|612236|612237|612238|612239|612240|612241|612242|612243|612244|612245|612246|612247|612248|612249|612250|800346|861875|861876|861877|861878|861879|861880|861881|864958|864959|864960", "text": "Achromatopsia 4" }, { - "baseId": "30965|188775|291123|291124|291125|291130|291131|291137|291139|292094|292096|292101|292117|292118|292119|292121|292122|295451|295455|295471|295472|295475|295476|295477|295492|295493|295500|295503|295638|295642|295646|295648|295649|295650|295656|295667|481553|622331|889391|889392|889393|889394|889395|889396|889397|889398|889399|889400|889401|889402|889403|889404|891690", + "upstreamId": "30965|188775|291123|291124|291125|291130|291131|291137|291139|292094|292096|292101|292117|292118|292119|292121|292122|295451|295455|295471|295472|295475|295476|295477|295492|295493|295500|295503|295638|295642|295646|295648|295649|295650|295656|295667|481553|622331|889391|889392|889393|889394|889395|889396|889397|889398|889399|889400|889401|889402|889403|889404|891690", "text": "Congenital stationary night blindness, autosomal dominant 3" }, { - "baseId": "30966|30967|30968|30969|30970|30971|30977|30978|30979|30985|30986|30987|30988|30989|30990|30992|30996|30997|205793|213658|424627|623387|677060|679724|742480|804854|804855|805116|964535|969616", + "upstreamId": "30966|30967|30968|30969|30970|30971|30977|30978|30979|30985|30986|30987|30988|30989|30990|30992|30996|30997|205793|213658|424627|623387|677060|679724|742480|804854|804855|805116|964535|969616", "text": "Pseudohypoparathyroidism" }, { - "baseId": "30967|30968|30977|30979|30980|30981|30982|30986|30987|30989|30992|205793|424627|440007|575506|609150|622923|969617|983470", + "upstreamId": "30967|30968|30977|30979|30980|30981|30982|30986|30987|30989|30992|205793|424627|440007|575506|609150|622923|969617|983470", "text": "Pseudopseudohypoparathyroidism" }, { - "baseId": "30968|30977|30988|30991", + "upstreamId": "30968|30977|30988|30991", "text": "Progressive osseous heteroplasia" }, { - "baseId": "30972|30973|30974|30976|30984|206650|206651|206652|206653|612198|791993|791994", + "upstreamId": "30972|30973|30974|30976|30984|206650|206651|206652|206653|612198|791993|791994", "text": "McCune-Albright syndrome" }, { - "baseId": "30972|30973", + "upstreamId": "30972|30973", "text": "Sex cord-stromal tumor" }, { - "baseId": "30972|30973|30976", + "upstreamId": "30972|30973|30976", "text": "Cushing's syndrome" }, { - "baseId": "30972|30973|30974|30975", + "upstreamId": "30972|30973|30974|30975", "text": "Pituitary adenoma 3, multiple types" }, { - "baseId": "30976", + "upstreamId": "30976", "text": "PITUITARY TUMOR 3, GROWTH HORMONE-SECRETING, SOMATIC" }, { - "baseId": "30976", + "upstreamId": "30976", "text": "Polyostotic fibrous dysplasia, somatic, mosaic" }, { - "baseId": "30983", + "upstreamId": "30983", "text": "PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS" }, { - "baseId": "30994", + "upstreamId": "30994", "text": "Prolonged bleeding time, brachydactyly, and mental retardation" }, { - "baseId": "30998|38700|38701|38702|213658", + "upstreamId": "30998|38700|38701|38702|213658", "text": "Pseudohypoparathyroidism type 1C" }, { - "baseId": "31000", + "upstreamId": "31000", "text": "GMP REDUCTASE POLYMORPHISM" }, { - "baseId": "31001|31002|31003|31004|132698|132703|132705|132706|153653|273740|346745|426238|971087", + "upstreamId": "31001|31002|31003|31004|132698|132703|132705|132706|153653|273740|346745|426238|971087", "text": "Ateleiotic dwarfism" }, { - "baseId": "31005|31006|31015|44937|44938|44939|44940|71561|94317|171271|171272|171273|195265|195598|268806|271375|273740|302808|302809|306162|306163|306164|306165|310912|310914|310916|310923|310924|311095|311098|311103|311105|311115|346745|588296|614551|620259|620260|744281|750614|897984|897985|897986|897987|897988|897989|897990|897991|897992|897993|897994|897995|897996|897997|897998|897999|898000|898001|898002|900353|900354|900355|900356", + "upstreamId": "31005|31006|31015|44937|44938|44939|44940|71561|94317|171271|171272|171273|195265|195598|268806|271375|273740|302808|302809|306162|306163|306164|306165|310912|310914|310916|310923|310924|311095|311098|311103|311105|311115|346745|588296|614551|620259|620260|744281|750614|897984|897985|897986|897987|897988|897989|897990|897991|897992|897993|897994|897995|897996|897997|897998|897999|898000|898001|898002|900353|900354|900355|900356", "text": "Isolated growth hormone deficiency type 1B" }, { - "baseId": "31007|31009|31010|31011|31012|31014|31016|31017|31018|31019|31021|31022|31023|31024|192241|273740|346745", + "upstreamId": "31007|31009|31010|31011|31012|31014|31016|31017|31018|31019|31021|31022|31023|31024|192241|273740|346745", "text": "Autosomal dominant isolated somatotropin deficiency" }, { - "baseId": "31008|31013|31020|273740|346745", + "upstreamId": "31008|31013|31020|273740|346745", "text": "Short stature due to growth hormone qualitative anomaly" }, { - "baseId": "31025|31026|31027", + "upstreamId": "31025|31026|31027", "text": "GC1/GC2 POLYMORPHISM" }, { - "baseId": "31028|31029|31030|31031|31032|31033|31034", + "upstreamId": "31028|31029|31030|31031|31032|31033|31034", "text": "Isolated growth hormone deficiency, type 4" }, { - "baseId": "31038|31039|31040|31041|31042|209858|209860|209861|239859|239860|239861|239862|239863|239864|239865|298319|298323|298324|298325|298328|298331|298335|298336|298339|298340|298348|298354|300625|300626|300636|300637|300639|300640|304909|304910|304913|304923|304948|304960|304961|304962|304965|304969|304972|304988|304989|305124|305125|305133|305146|305149|305150|305151|305155|305168|305169|305172|305175|305183|305187|395154|395163|395638|395639|453625|455058|455059|455063|455250|455262|455718|455721|455724|455972|455980|455980|455987|455990|455994|514268|521254|521256|521258|521545|521548|521618|521864|521865|521866|560385|560387|560389|560391|560393|560496|560498|563237|563246|563251|565202|565211|634451|634452|634454|634456|634457|634458|634459|634461|634462|634463|634464|651332|651385|651395|651399|651484|651486|683746|683747|894835|894836|894837|894838|894839|894841|894842|894843|894844|894845|894846|894847|894848|894849|894850|894851|894852|894853|896143|961821|961822|975858", + "upstreamId": "31038|31039|31040|31041|31042|209858|209860|209861|239859|239860|239861|239862|239863|239864|239865|298319|298323|298324|298325|298328|298331|298335|298336|298339|298340|298348|298354|300625|300626|300636|300637|300639|300640|304909|304910|304913|304923|304948|304960|304961|304962|304965|304969|304972|304988|304989|305124|305125|305133|305146|305149|305150|305151|305155|305168|305169|305172|305175|305183|305187|395154|395163|395638|395639|453625|455058|455059|455063|455250|455262|455718|455721|455724|455972|455980|455980|455987|455990|455994|514268|521254|521256|521258|521545|521548|521618|521864|521865|521866|560385|560387|560389|560391|560393|560496|560498|563237|563246|563251|565202|565211|634451|634452|634454|634456|634457|634458|634459|634461|634462|634463|634464|651332|651385|651395|651399|651484|651486|683746|683747|894835|894836|894837|894838|894839|894841|894842|894843|894844|894845|894846|894847|894848|894849|894850|894851|894852|894853|896143|961821|961822|975858", "text": "Capillary malformation-arteriovenous malformation 1" }, { - "baseId": "31043", + "upstreamId": "31043", "text": "GNB3 POLYMORPHISM" }, { - "baseId": "31044", + "upstreamId": "31044", "text": "Hereditary neutrophilia" }, { - "baseId": "31045|31046|31047|31048|31049|31050|31051|31052|31053|31053|31058|31059|31060|31061|38697|38697|38698|104011|104012|104012|104015|104015|104017|104018|104022|104023|104026|104027|104027|104029|104036|104036|104037|104042|104042|104044|104049|104051|104051|104055|104057|104057|104061|104069|104070|104070|104072|104072|104073|104073|104074|104076|104081|104081|104083|104138|104138|191016|193498|193498|199868|199869|256200|256200|256201|256201|256202|256202|328684|328690|328691|338668|338672|344735|344739|344741|344743|346134|346138|346138|430968|441960|441962|445782|445783|468266|480432|480432|531144|571526|571530|571532|577633|577634|577635|577635|577636|580331|580331|580334|580336|580372|580515|620591|646081|646082|646083|646084|646084|646085|646086|653280|694088|776327|791780|791781|798712|798713|798714|798715|798716|821098|845492|845493|852752|877735|877736|877737|877737|877738|877739|877740|877741|877742|877743|877744|877745|877746|877747|877748|880532|880533|880534|880535|880536|880537|928337|928338|928339|928340|937984|937985|964880|971080", + "upstreamId": "31045|31046|31047|31048|31049|31050|31051|31052|31053|31053|31058|31059|31060|31061|38697|38697|38698|104011|104012|104012|104015|104015|104017|104018|104022|104023|104026|104027|104027|104029|104036|104036|104037|104042|104042|104044|104049|104051|104051|104055|104057|104057|104061|104069|104070|104070|104072|104072|104073|104073|104074|104076|104081|104081|104083|104138|104138|191016|193498|193498|199868|199869|256200|256200|256201|256201|256202|256202|328684|328690|328691|338668|338672|344735|344739|344741|344743|346134|346138|346138|430968|441960|441962|445782|445783|468266|480432|480432|531144|571526|571530|571532|577633|577634|577635|577635|577636|580331|580331|580334|580336|580372|580515|620591|646081|646082|646083|646084|646084|646085|646086|653280|694088|776327|791780|791781|798712|798713|798714|798715|798716|821098|845492|845493|852752|877735|877736|877737|877737|877738|877739|877740|877741|877742|877743|877744|877745|877746|877747|877748|880532|880533|880534|880535|880536|880537|928337|928338|928339|928340|937984|937985|964880|971080", "text": "Grn-related frontotemporal lobar degeneration with Tdp43 inclusions" }, { - "baseId": "31053|31059|38697|104012|104015|104017|104018|104023|104027|104036|104037|104042|104049|104051|104055|104057|104070|104072|104073|104081|104083|104138|191016|193498|256200|256201|256202|346138|441960|441962|445782|445783|468266|480432|513644|531144|571526|571530|571532|577635|577636|580331|580334|580336|580372|580515|646081|646082|646083|646084|646085|646086|653280|694088|776327|821098|845492|845493|852752|877737|919732|928337|928338|928339|928340|937984|937985", + "upstreamId": "31053|31059|38697|104012|104015|104017|104018|104023|104027|104036|104037|104042|104049|104051|104055|104057|104070|104072|104073|104081|104083|104138|191016|193498|256200|256201|256202|346138|441960|441962|445782|445783|468266|480432|513644|531144|571526|571530|571532|577635|577636|580331|580334|580336|580372|580515|646081|646082|646083|646084|646085|646086|653280|694088|776327|821098|845492|845493|852752|877737|919732|928337|928338|928339|928340|937984|937985", "text": "Ceroid lipofuscinosis, neuronal, 11" }, { - "baseId": "31054|31056|31059|104138", + "upstreamId": "31054|31056|31059|104138", "text": "Primary progressive aphasia" }, { - "baseId": "31062|31063|31064|31065|31066|31067|31068|31069|31070|31071|31072|31073|31075|31321|31338|38410|40123|132059|132060|150301|150302|178326|178329|178331|178333|178334|178335|178336|178337|178338|178341|178342|178343|181427|263181|269442|293990|293993|293994|294007|294008|294016|294023|294024|294025|294039|294055|294056|295417|295419|295420|295422|295424|295441|295462|295468|295484|295487|295504|295507|295508|295509|299209|299211|299215|299216|299217|299227|299229|299236|299238|299242|299243|299245|299247|299248|299255|299257|299258|299261|299264|299265|299273|299275|299278|299279|299280|299281|299283|299284|299286|299287|299288|299291|361060|361062|443633|482006|620173|626007|697013|709414|790043|790044|892069|892070|892071|892072|892073|892074|892075|892076|892077|892078|892079|892080|892081|892082|892083|892084|892085|892086|892087|892088|892089|892090|892091|892092|892093|892094|892095|892096|892097|892098|892099|892100|892101|892102|892103|892104|919116|919258", + "upstreamId": "31062|31063|31064|31065|31066|31067|31068|31069|31070|31071|31072|31073|31075|31321|31338|38410|40123|132059|132060|150301|150302|178326|178329|178331|178333|178334|178335|178336|178337|178338|178341|178342|178343|181427|263181|269442|293990|293993|293994|294007|294008|294016|294023|294024|294025|294039|294055|294056|295417|295419|295420|295422|295424|295441|295462|295468|295484|295487|295504|295507|295508|295509|299209|299211|299215|299216|299217|299227|299229|299236|299238|299242|299243|299245|299247|299248|299255|299257|299258|299261|299264|299265|299273|299275|299278|299279|299280|299281|299283|299284|299286|299287|299288|299291|361060|361062|443633|482006|620173|626007|697013|709414|790043|790044|892069|892070|892071|892072|892073|892074|892075|892076|892077|892078|892079|892080|892081|892082|892083|892084|892085|892086|892087|892088|892089|892090|892091|892092|892093|892094|892095|892096|892097|892098|892099|892100|892101|892102|892103|892104|919116|919258", "text": "Hypogonadotropic hypogonadism 7 with or without anosmia" }, { - "baseId": "31062", + "upstreamId": "31062", "text": "Isolated congenital hypogonadotropic hypogonadism" }, { - "baseId": "31062", + "upstreamId": "31062", "text": "Gonadotropin deficiency" }, { - "baseId": "31070|294004|294014|294021|294042|295463|296541|296564|299213|299239|299240|299263|299268|299274|299282|299297|305011|308722|308723|313876", + "upstreamId": "31070|294004|294014|294021|294042|295463|296541|296564|299213|299239|299240|299263|299268|299274|299282|299297|305011|308722|308723|313876", "text": "Isolated GnRH Deficiency" }, { - "baseId": "31076", + "upstreamId": "31076", "text": "Autism 1" }, { - "baseId": "31077|31078", + "upstreamId": "31077|31078", "text": "Macrothrombocytopenia, familial, Bernard-Soulier type" }, { - "baseId": "31079|31080|169754", + "upstreamId": "31079|31080|169754", "text": "Bernard-Soulier syndrome, type B" }, { - "baseId": "31079|801171", + "upstreamId": "31079|801171", "text": "Increased mean platelet volume" }, { - "baseId": "31081", + "upstreamId": "31081", "text": "APOH POLYMORPHISM" }, { - "baseId": "31082|31083|31084", + "upstreamId": "31082|31083|31084", "text": "Leanness, susceptibility to" }, { - "baseId": "31088|31089|31090|31091|31092|31093|31094|31095|89845|141225|141226|141227|141228|141229|141230|141231|141232|141233|196321|211598|211602|211606|211608|254474|254479|254481|254482|254483|254486|316622|316623|316625|316626|316636|316637|316658|316660|316661|316662|324114|324116|324119|324120|324121|324132|324133|324139|324142|324145|324146|330088|330089|330090|330095|330097|330099|330101|330115|330118|330130|330132|331529|331530|331531|331535|331537|331550|389203|527028|527553|565368|565372|566747|571733|620438|620847|641012|641013|641014|641015|652231|725041|725042|738591|753301|769040|839776|852478|869647|869648|869649|869650|869651|869652|869653|869654|869655|869656|869657|869658|869659|872225|926587|936072|936073|947957|956843", + "upstreamId": "31088|31089|31090|31091|31092|31093|31094|31095|89845|141225|141226|141227|141228|141229|141230|141231|141232|141233|196321|211598|211602|211606|211608|254474|254479|254481|254482|254483|254486|316622|316623|316625|316626|316636|316637|316658|316660|316661|316662|324114|324116|324119|324120|324121|324132|324133|324139|324142|324145|324146|330088|330089|330090|330095|330097|330099|330101|330115|330118|330130|330132|331529|331530|331531|331535|331537|331550|389203|527028|527553|565368|565372|566747|571733|620438|620847|641012|641013|641014|641015|652231|725041|725042|738591|753301|769040|839776|852478|869647|869648|869649|869650|869651|869652|869653|869654|869655|869656|869657|869658|869659|872225|926587|936072|936073|947957|956843", "text": "Glycogen storage disease due to hepatic glycogen synthase deficiency" }, { - "baseId": "31096|133691|166213|193499|334005|334009|334013|334015|334019|334021|334025|334027|334039|334040|334041|334047|334049|343936|343937|343944|343948|343949|343952|343954|343956|343963|343968|343969|343974|343975|349230|349231|349233|349234|349235|349236|349239|349240|349243|349244|350174|350175|350178|350181|350183|350185|350188|350189|350192|350196|350198|350199|353504|353506|353510|353514|353516|377804|377807|379611|422291|446160|489591|507892|507896|533220|572592|572594|572602|575003|576186|648222|648223|648224|648225|648226|648227|648228|648229|648230|648231|648232|656584|742042|742043|742045|742046|757166|797887|821275|821276|821277|847814|847815|847816|847817|847818|847819|847820|847821|847822|847823|847824|847825|847826|847827|847828|851821|852981|882269|882270|882271|882272|882273|882274|882275|882276|882277|882278|882279|882280|882281|882282|882283|882284|882285|882286|882287|882288|882289|882290|882291|882292|882293|882294|882295|882296|882297|882914|882915|929015|929016|929017|929018|929019|929020|929021|929022|929023|938761|938762|938763|938764|938765|938766|938767|938768|938769|940486|940487|941236|950843|950844|950845|950846|958680|958681|958682|958683|958684|958685", + "upstreamId": "31096|133691|166213|193499|334005|334009|334013|334015|334019|334021|334025|334027|334039|334040|334041|334047|334049|343936|343937|343944|343948|343949|343952|343954|343956|343963|343968|343969|343974|343975|349230|349231|349233|349234|349235|349236|349239|349240|349243|349244|350174|350175|350178|350181|350183|350185|350188|350189|350192|350196|350198|350199|353504|353506|353510|353514|353516|377804|377807|379611|422291|446160|489591|507892|507896|533220|572592|572594|572602|575003|576186|648222|648223|648224|648225|648226|648227|648228|648229|648230|648231|648232|656584|742042|742043|742045|742046|757166|797887|821275|821276|821277|847814|847815|847816|847817|847818|847819|847820|847821|847822|847823|847824|847825|847826|847827|847828|851821|852981|882269|882270|882271|882272|882273|882274|882275|882276|882277|882278|882279|882280|882281|882282|882283|882284|882285|882286|882287|882288|882289|882290|882291|882292|882293|882294|882295|882296|882297|882914|882915|929015|929016|929017|929018|929019|929020|929021|929022|929023|938761|938762|938763|938764|938765|938766|938767|938768|938769|940486|940487|941236|950843|950844|950845|950846|958680|958681|958682|958683|958684|958685", "text": "Glycogen storage disease 0, muscle" }, { - "baseId": "31097|31098|40211|292638|292641|292642|292643|292645|292646|292647|292659|292660|292667|292668|292671|294019|294020|294030|294031|294032|294033|294034|294036|294037|294041|294043|294044|294045|297419|297427|297428|297432|297437|297452|297475|297476|297477|297482|297500|297503|297505|297506|297507|519795|519811|520102|559623|563549|563550|632061|632062|632063|651253|698406|709209|720811|734503|748789|764363|790447|828912|828913|890331|890332|890333|890334|890335|890336|890337|890338|890339|890340|890341|890342|890343|890344|890345|890346|890347|890348|890349|891759|891760|923451|953707", + "upstreamId": "31097|31098|40211|292638|292641|292642|292643|292645|292646|292647|292659|292660|292667|292668|292671|294019|294020|294030|294031|294032|294033|294034|294036|294037|294041|294043|294044|294045|297419|297427|297428|297432|297437|297452|297475|297476|297477|297482|297500|297503|297505|297506|297507|519795|519811|520102|559623|563549|563550|632061|632062|632063|651253|698406|709209|720811|734503|748789|764363|790447|828912|828913|890331|890332|890333|890334|890335|890336|890337|890338|890339|890340|890341|890342|890343|890344|890345|890346|890347|890348|890349|891759|891760|923451|953707", "text": "Hyperekplexia 2" }, { - "baseId": "31100", + "upstreamId": "31100", "text": "Sleep myoclonus" }, { - "baseId": "31114|31115", + "upstreamId": "31114|31115", "text": "Factor B fast/slow polymorphism" }, { - "baseId": "31114", + "upstreamId": "31114", "text": "BF*FA/S" }, { - "baseId": "31114|31115|31116|59798|59799|139353|139354|139355|139356|139357|227292|278181|278610|293309|299776|299781|299782|299793|299794|299798|299817|302372|302388|306762|306777|307093|307117|334509|334907|344343|344359|344383|344771|349452|350459|353745|353749|439576|496599", + "upstreamId": "31114|31115|31116|59798|59799|139353|139354|139355|139356|139357|227292|278181|278610|293309|299776|299781|299782|299793|299794|299798|299817|302372|302388|306762|306777|307093|307117|334509|334907|344343|344359|344383|344771|349452|350459|353745|353749|439576|496599", "text": "Atypical hemolytic uremic syndrome" }, { - "baseId": "31114|31115|31116|31118|31119|227292|227293|299798|299800|299801|299802|299808|299809|299810|299817|299818|299823|299824|299825|299832|302401|302405|302413|302414|306782|306810|306818|306821|306823|306824|306825|306828|306830|307103|307110|307117|307120|307123|307132|354166|354167|818242|818243|818244|895776|895782|895783|895784|895785|895786|895787|895788|895789|895790|895791|895792|895793|896219|980458", + "upstreamId": "31114|31115|31116|31118|31119|227292|227293|299798|299800|299801|299802|299808|299809|299810|299817|299818|299823|299824|299825|299832|302401|302405|302413|302414|306782|306810|306818|306821|306823|306824|306825|306828|306830|307103|307110|307117|307120|307123|307132|354166|354167|818242|818243|818244|895776|895782|895783|895784|895785|895786|895787|895788|895789|895790|895791|895792|895793|896219|980458", "text": "Atypical hemolytic-uremic syndrome 4" }, { - "baseId": "31121", + "upstreamId": "31121", "text": "GLUTATHIONE PEROXIDASE POLYMORPHISM" }, { - "baseId": "31122|31123|38689|277506|277509|277514|277529|277538|277542|277543|277545|277558|277563|277566|277583|277587|277589|277593|277594|277595|277605|277624|277625|277629|277630|277633|277634|277635|277636|277637|277700|277702|277718|277719|277729|277731|277736|277738|277745|277746|277755|277756|277764|277765|277766|277767|277770|277771|277776|277777|277780|278609|278611|278615|278617|278618|278619|278620|278621|278623|278633|278646|278648|278651|278652|278653|278664|278665|278666|278668|278673|278686|278687|278695|278698|278699|278708|278709|278711|278712|278720|278721|278722|278734|278735|278739|278741|278742|278743|278745|278747|278748|278749|278773|353070|578371|706912|731905|862869|862870|862871|862872|862873|862874|862875|862876|862877|862878|862879|862880|862881|862882|862883|862884|862885|862886|862887|862888|862889|862890|862891|862892|862893|862894|862895|862896|862897|862898|862899|862900|862901|862902|862903|862904|862905|862906|862907|862908|930178|941592", + "upstreamId": 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brain dysgenesis due to glutamine synthetase deficiency" }, { - "baseId": "31124|31125|38682|166329|166330|213604|213762|213763|213905|213920|253949|253951|253951|253952|311775|311779|311782|311782|311783|311783|311797|311799|311800|311800|311803|311811|317390|317392|317397|317399|317399|317400|317402|317414|317414|323413|323420|323423|323424|323424|323427|323434|323434|323437|323446|323455|323462|324029|324030|324046|324059|324060|324061|324069|324069|324070|324070|324072|324075|371913|373610|373610|373621|373621|373627|413295|421812|434637|437871|437871|460344|460358|460416|460700|460701|461164|461165|461169|502966|503312|503866|525626|525626|550619|566648|566650|566654|566655|566660|569906|569909|621898|626418|639320|639321|639322|639323|639324|639326|652348|652348|665615|692901|692902|692903|712533|712534|724130|775702|783785|798629|837521|837522|837523|837524|837525|837526|837527|859828|866634|866635|866636|866637|866638|866639|866640|866641|866642|866643|866644|866645|868543|868544|868545", + "upstreamId": "31124|31125|38682|166329|166330|213604|213762|213763|213905|213920|253949|253951|253951|253952|311775|311779|311782|311782|311783|311783|311797|311799|311800|311800|311803|311811|317390|317392|317397|317399|317399|317400|317402|317414|317414|323413|323420|323423|323424|323424|323427|323434|323434|323437|323446|323455|323462|324029|324030|324046|324059|324060|324061|324069|324069|324070|324070|324072|324075|371913|373610|373610|373621|373621|373627|413295|421812|434637|437871|437871|460344|460358|460416|460700|460701|461164|461165|461169|502966|503312|503866|525626|525626|550619|566648|566650|566654|566655|566660|569906|569909|621898|626418|639320|639321|639322|639323|639324|639326|652348|652348|665615|692901|692902|692903|712533|712534|724130|775702|783785|798629|837521|837522|837523|837524|837525|837526|837527|859828|866634|866635|866636|866637|866638|866639|866640|866641|866642|866643|866644|866645|868543|868544|868545", "text": "Cutis laxa, autosomal recessive IIIA" }, { - "baseId": "31126|187134", + "upstreamId": "31126|187134", "text": "Mental retardation, autosomal recessive 6" }, { - "baseId": "31127", + "upstreamId": "31127", "text": "GLUTAMIC PYRUVATE TRANSAMINASE POLYMORPHISM" }, { - "baseId": "31130|31131|31132|31134|31135|31136|31137|31138|31139|31140|31141|31142|31143|135795|135796|135797|135798|196172|251001|251002|251003|251004|251005|251006|289481|289486|289488|289491|289503|289506|289507|289509|289510|290252|290253|290255|290256|290257|290258|290259|290263|290265|290266|290278|290279|290281|293350|293361|293363|293768|293770|293771|293772|293774|293777|293778|293779|293779|293780|293787|293788|293798|414921|414921|418963|438543|451944|493692|500665|513047|513531|513532|518977|519148|519152|539992|558836|558838|559379|561258|620121|631046|748097|779098|827709|851548|888366|888367|888368|888369|888370|888371|888372|888373|888374|888375|888376|888377|888378|888379|888380|888381|888382|888383|888384|891619", + "upstreamId": "31130|31131|31132|31134|31135|31136|31137|31138|31139|31140|31141|31142|31143|135795|135796|135797|135798|196172|251001|251002|251003|251004|251005|251006|289481|289486|289488|289491|289503|289506|289507|289509|289510|290252|290253|290255|290256|290257|290258|290259|290263|290265|290266|290278|290279|290281|293350|293361|293363|293768|293770|293771|293772|293774|293777|293778|293779|293779|293780|293787|293788|293798|414921|414921|418963|438543|451944|493692|500665|513047|513531|513532|518977|519148|519152|539992|558836|558838|559379|561258|620121|631046|748097|779098|827709|851548|888366|888367|888368|888369|888370|888371|888372|888373|888374|888375|888376|888377|888378|888379|888380|888381|888382|888383|888384|891619", "text": "Fanconi-Bickel syndrome" }, { - "baseId": "31144|31145|31146|31149|31150|31152|31153|31157|101305|101306|101310|101311|101312|101313|101315|101316|101317|102597|142857|142858|142862|142864|142869|142870|142871|167987|167988|167989|167990|167991|167993|167994|167995|167996|195706|196002|196003|198605|201142|201142|201149|201150|201157|201160|201163|201165|201169|201170|201174|201177|206798|206799|237523|259669|264004|271180|280556|280569|280577|280578|280583|280585|280596|280599|280600|281019|281020|281021|281036|281037|281040|281041|281050|281051|281052|281063|281065|281070|282308|282314|282331|282346|282347|282558|282560|282561|282562|282566|282567|282568|282579|391203|434754|442473|481468|486609|498499|515910|536593|556476|589826|611376|614219|614220|622863|627870|627878|653850|789966|789967|789968|789969|794674|798473|798474|864437|864438|864439|864440|864441|864442|864443|864444|864445|864446|864447|864448|864449|864450|864451|864452|864453|961587|963494|964156|964157|980580", + "upstreamId": "31144|31145|31146|31149|31150|31152|31153|31157|101305|101306|101310|101311|101312|101313|101315|101316|101317|102597|142857|142858|142862|142864|142869|142870|142871|167987|167988|167989|167990|167991|167993|167994|167995|167996|195706|196002|196003|198605|201142|201142|201149|201150|201157|201160|201163|201165|201169|201170|201174|201177|206798|206799|237523|259669|264004|271180|280556|280569|280577|280578|280583|280585|280596|280599|280600|281019|281020|281021|281036|281037|281040|281041|281050|281051|281052|281063|281065|281070|282308|282314|282331|282346|282347|282558|282560|282561|282562|282566|282567|282568|282579|391203|434754|442473|481468|486609|498499|515910|536593|556476|589826|611376|614219|614220|622863|627870|627878|653850|789966|789967|789968|789969|794674|798473|798474|864437|864438|864439|864440|864441|864442|864443|864444|864445|864446|864447|864448|864449|864450|864451|864452|864453|961587|963494|964156|964157|980580", "text": "GLUT1 deficiency syndrome 1" }, { - "baseId": "31147|31148|31152|31156|31157|31158|31159|45874|45875|101305|101306|101307|101309|101311|101314|101315|101316|101317|102597|102598|142858|142859|142860|142861|142862|142863|142864|142866|142868|142869|142870|142871|167990|167992|167994|194443|195356|195704|195706|196003|201124|201125|201126|201127|201128|201129|201131|201132|201133|201137|201142|201147|201148|201149|201157|201163|201166|201168|201169|201170|206798|206799|238281|238282|264004|271180|280596|360813|365203|365206|365230|365276|365280|365281|365283|365284|365294|391203|391208|391241|391243|427818|434754|437804|440512|442473|447914|448081|448082|448091|448139|448231|448233|485999|486000|498499|498697|511275|511276|514877|515884|515892|515900|515901|515902|515903|515907|515908|515910|515912|515913|515941|515946|515954|516000|516001|516002|536593|556501|557059|557061|557063|557272|557274|557276|557278|557333|557335|557337|557339|557341|558517|578807|627861|627862|627863|627864|627865|627866|627867|627868|627869|627870|627871|627872|627873|627874|627875|627876|627877|627878|627879|627880|627881|650715|683328|685733|685734|690604|690605|696749|746481|800985|818967|818968|818969|823981|823982|823983|823984|823985|823986|823987|823988|823989|823990|823991|850969|851303|922023|922024|922025|922026|922027|922028|922029|930490|930491|930492|930493|930494|939814|941945|941946|941947|941948|941949|941950|952414|952415|952416|952417|959556", + "upstreamId": "31147|31148|31152|31156|31157|31158|31159|45874|45875|101305|101306|101307|101309|101311|101314|101315|101316|101317|102597|102598|142858|142859|142860|142861|142862|142863|142864|142866|142868|142869|142870|142871|167990|167992|167994|194443|195356|195704|195706|196003|201124|201125|201126|201127|201128|201129|201131|201132|201133|201137|201142|201147|201148|201149|201157|201163|201166|201168|201169|201170|206798|206799|238281|238282|264004|271180|280596|360813|365203|365206|365230|365276|365280|365281|365283|365284|365294|391203|391208|391241|391243|427818|434754|437804|440512|442473|447914|448081|448082|448091|448139|448231|448233|485999|486000|498499|498697|511275|511276|514877|515884|515892|515900|515901|515902|515903|515907|515908|515910|515912|515913|515941|515946|515954|516000|516001|516002|536593|556501|557059|557061|557063|557272|557274|557276|557278|557333|557335|557337|557339|557341|558517|578807|627861|627862|627863|627864|627865|627866|627867|627868|627869|627870|627871|627872|627873|627874|627875|627876|627877|627878|627879|627880|627881|650715|683328|685733|685734|690604|690605|696749|746481|800985|818967|818968|818969|823981|823982|823983|823984|823985|823986|823987|823988|823989|823990|823991|850969|851303|922023|922024|922025|922026|922027|922028|922029|930490|930491|930492|930493|930494|939814|941945|941946|941947|941948|941949|941950|952414|952415|952416|952417|959556", "text": "GLUT1 deficiency syndrome 1, autosomal recessive" }, { - "baseId": "31151|31152|31153|31154|31155|31156|31157|31158|38678|102597|196002|196003|201142|201142|201157|201174|206798|225820|225834|280596|391203|426739|434754|611376|614219|614220|800753|816520|858512|961587|965620|977176", + "upstreamId": "31151|31152|31153|31154|31155|31156|31157|31158|38678|102597|196002|196003|201142|201142|201157|201174|206798|225820|225834|280596|391203|426739|434754|611376|614219|614220|800753|816520|858512|961587|965620|977176", "text": "GLUT1 deficiency syndrome 2" }, { - "baseId": "31157|45874|101305|101306|101310|101311|101312|101313|101315|101316|101317|102597|142857|142858|142864|142869|142870|142871|167990|167993|195706|196002|196003|201142|201149|201157|201163|201165|201169|201170|201174|201177|206798|206799|271180|280556|280569|280577|280578|280583|280585|280596|280599|280600|281019|281020|281021|281036|281037|281040|281041|281050|281051|281052|281063|281065|281070|282308|282314|282331|282346|282347|282558|282560|282561|282562|282566|282567|282568|282579|391203|434754|498499|515910|536593|611376|614219|614220|794674|823985|864437|864438|864439|864440|864441|864442|864443|864444|864445|864446|864447|864448|864449|864450|864451|864452|864453|961587", + "upstreamId": "31157|45874|101305|101306|101310|101311|101312|101313|101315|101316|101317|102597|142857|142858|142864|142869|142870|142871|167990|167993|195706|196002|196003|201142|201149|201157|201163|201165|201169|201170|201174|201177|206798|206799|271180|280556|280569|280577|280578|280583|280585|280596|280599|280600|281019|281020|281021|281036|281037|281040|281041|281050|281051|281052|281063|281065|281070|282308|282314|282331|282346|282347|282558|282560|282561|282562|282566|282567|282568|282579|391203|434754|498499|515910|536593|611376|614219|614220|794674|823985|864437|864438|864439|864440|864441|864442|864443|864444|864445|864446|864447|864448|864449|864450|864451|864452|864453|961587", "text": "Dystonia 9" }, { - "baseId": "31157|102597|196002|196003|196003|201142|201157|201174|206798|215041|215042|391203|611376|614219|614220|961587", + "upstreamId": "31157|102597|196002|196003|196003|201142|201157|201174|206798|215041|215042|391203|611376|614219|614220|961587", "text": "Stomatin-deficient cryohydrocytosis with neurologic defects" }, { - "baseId": "31160|31161|31162|31163|31164|31165|31166|31167|31168|134607|134608|134609|134610|207795|227339|227919|253899|311493|311494|311495|311501|311503|317060|317061|317062|317073|317074|317075|317076|317078|317079|323058|323059|323061|323062|323078|323091|323655|323667|323669|323676|323677|323695|323696|323699|407950|525575|525886|539030|577159|639258|639259|744467|768029|783762|837407|837408|866477|866478|866479|866480|866481|866482|866483|866484|866485|866486|866487|866488|866489|868526|868527|919300|956261|956262|970923", + "upstreamId": "31160|31161|31162|31163|31164|31165|31166|31167|31168|134607|134608|134609|134610|207795|227339|227919|253899|311493|311494|311495|311501|311503|317060|317061|317062|317073|317074|317075|317076|317078|317079|323058|323059|323061|323062|323078|323091|323655|323667|323669|323676|323677|323695|323696|323699|407950|525575|525886|539030|577159|639258|639259|744467|768029|783762|837407|837408|866477|866478|866479|866480|866481|866482|866483|866484|866485|866486|866487|866488|866489|868526|868527|919300|956261|956262|970923", "text": "Hyperinsulinism-hyperammonemia syndrome" }, { - "baseId": "31160", + "upstreamId": "31160", "text": "Familial hyperinsulinemia" }, { - "baseId": "31169|31170|40268|40269|40270|40271|189064", + "upstreamId": "31169|31170|40268|40269|40270|40271|189064", "text": "Cortisone reductase deficiency 1" }, { - "baseId": "31171|31173|31174|31175|31176|31177|31178|31180|31184|44827|44828|44829|44830|44831|44832|44834|44835|44836|44837|44838|44839|44840|44841|44842|44843|44844|44845|44846|44847|44848|44849|44850|44851|44852|44853|44854|44855|44856|44857|44858|44859|44860|44861|44862|44863|44864|44864|44865|44866|44867|44868|44869|44870|44871|44872|44873|44874|44875|44876|44877|44878|44879|44880|44881|44882|44884|44886|44887|44888|44889|44890|44891|44892|44893|44894|44895|44896|44898|44899|44900|44901|44902|44903|44904|44905|44906|44907|44907|44908|44909|44910|44911|44912|44913|44914|44915|44916|44917|44918|44919|44920|44921|44922|44923|44924|44925|44926|44927|44928|44929|44930|44931|44932|44933|44934|44935|48358|134590|134590|134593|207484|207485|207486|217193|236860|237582|237750|252883|252884|259865|303069|303070|303071|303072|303073|303074|306341|306345|306346|306347|311169|311170|311172|311173|311302|311303|311306|311310|311312|380268|380270|380271|407147|407150|415104|421632|425758|428721|428722|428724|428725|428726|428727|428729|428730|428730|428732|428733|428734|428735|428737|428738|441126|513065|513066|513067|576978|609049|609050|611361|619858|759683|790723|790724|790725|792671|793237|793240|898116|898117|898118|898119|898120|898121|898122|898123|898124|898125|898126|898127|898128|898129|898130|898131|898132|898133|898134|900365|900366|900367|900368|904271|961068|961069|961070|961071|961072|961073|961074|961075|961076|961077|961078|961285|961569|964289|964290|964291|969738", + "upstreamId": "31171|31173|31174|31175|31176|31177|31178|31180|31184|44827|44828|44829|44830|44831|44832|44834|44835|44836|44837|44838|44839|44840|44841|44842|44843|44844|44845|44846|44847|44848|44849|44850|44851|44852|44853|44854|44855|44856|44857|44858|44859|44860|44861|44862|44863|44864|44864|44865|44866|44867|44868|44869|44870|44871|44872|44873|44874|44875|44876|44877|44878|44879|44880|44881|44882|44884|44886|44887|44888|44889|44890|44891|44892|44893|44894|44895|44896|44898|44899|44900|44901|44902|44903|44904|44905|44906|44907|44907|44908|44909|44910|44911|44912|44913|44914|44915|44916|44917|44918|44919|44920|44921|44922|44923|44924|44925|44926|44927|44928|44929|44930|44931|44932|44933|44934|44935|48358|134590|134590|134593|207484|207485|207486|217193|236860|237582|237750|252883|252884|259865|303069|303070|303071|303072|303073|303074|306341|306345|306346|306347|311169|311170|311172|311173|311302|311303|311306|311310|311312|380268|380270|380271|407147|407150|415104|421632|425758|428721|428722|428724|428725|428726|428727|428729|428730|428730|428732|428733|428734|428735|428737|428738|441126|513065|513066|513067|576978|609049|609050|611361|619858|759683|790723|790724|790725|792671|793237|793240|898116|898117|898118|898119|898120|898121|898122|898123|898124|898125|898126|898127|898128|898129|898130|898131|898132|898133|898134|900365|900366|900367|900368|904271|961068|961069|961070|961071|961072|961073|961074|961075|961076|961077|961078|961285|961569|964289|964290|964291|969738", "text": "Maturity-onset diabetes of the young, type 2" }, { - "baseId": "31173|31180", + "upstreamId": "31173|31180", "text": "Permanent neonatal diabetes mellitus 1" }, { - "baseId": "31179|31182|31183|31185|44864|44866|44870|44872|44877|44886|44899|44906|44907|134590|134593|207485|252883|252884|259865|303069|303070|303071|303072|303073|303074|306341|306345|306346|306347|311169|311170|311172|311173|311302|311303|311306|311310|311312|428720|428723|428730|428735|428737|428738|441126|576978|759683|898116|898117|898118|898119|898120|898121|898122|898123|898124|898125|898126|898127|898128|898129|898130|898131|898132|898133|898134|900365|900366|900367|900368", + "upstreamId": "31179|31182|31183|31185|44864|44866|44870|44872|44877|44886|44899|44906|44907|134590|134593|207485|252883|252884|259865|303069|303070|303071|303072|303073|303074|306341|306345|306346|306347|311169|311170|311172|311173|311302|311303|311306|311310|311312|428720|428723|428730|428735|428737|428738|441126|576978|759683|898116|898117|898118|898119|898120|898121|898122|898123|898124|898125|898126|898127|898128|898129|898130|898131|898132|898133|898134|900365|900366|900367|900368", "text": "Hyperinsulinism due to glucokinase deficiency" }, { - "baseId": "31186|31187|31189|31190|31191|31193|31194|31195|31196|31197|165651|295714|295715|295719|295722|295723|295724|295730|295732|295736|295739|295748|295751|295752|295753|295757|295758|295762|295768|295769|297551|297552|297556|297558|297561|297563|297566|297581|297582|297583|301396|301399|301400|301404|301406|301408|301410|301419|301420|301423|301424|301426|301445|301446|301447|301450|301454|301455|301472|301597|301598|301600|301601|301604|301625|301626|301641|301646|301647|301648|301650|301653|301665|301678|301679|721273|734895|749285|764933|893142|893143|893144|893145|893146|893147|893148|893149|893150|893151|893152|893153|893154|893155|893156|893157|893158|893159|893160|893161|893162|893163|893164|893165|893166|893167|893168|893169|893170|893171|893172|893173|893174|893175|893176|893177|893178|893179|893180|893181|893182|893183|893184|893185|893186|893187|893188|893189|893190|893191|893192|893193|893194|893195|896053|896054", + "upstreamId": "31186|31187|31189|31190|31191|31193|31194|31195|31196|31197|165651|295714|295715|295719|295722|295723|295724|295730|295732|295736|295739|295748|295751|295752|295753|295757|295758|295762|295768|295769|297551|297552|297556|297558|297561|297563|297566|297581|297582|297583|301396|301399|301400|301404|301406|301408|301410|301419|301420|301423|301424|301426|301445|301446|301447|301450|301454|301455|301472|301597|301598|301600|301601|301604|301625|301626|301641|301646|301647|301648|301650|301653|301665|301678|301679|721273|734895|749285|764933|893142|893143|893144|893145|893146|893147|893148|893149|893150|893151|893152|893153|893154|893155|893156|893157|893158|893159|893160|893161|893162|893163|893164|893165|893166|893167|893168|893169|893170|893171|893172|893173|893174|893175|893176|893177|893178|893179|893180|893181|893182|893183|893184|893185|893186|893187|893188|893189|893190|893191|893192|893193|893194|893195|896053|896054", "text": "Glucocorticoid resistance, generalized" }, { - "baseId": "31188", + "upstreamId": "31188", "text": "Glucocorticoid resistance, cellular" }, { - "baseId": "31189", + "upstreamId": "31189", "text": "GLUCOCORTICOID RECEPTOR POLYMORPHISM" }, { - "baseId": "31192", + "upstreamId": "31192", "text": "Pseudohermaphroditism, female, with hypokalemia, due to glucocorticoid resistance" }, { - "baseId": "31193", + "upstreamId": "31193", "text": "Glucocorticoid resistance, relative" }, { - "baseId": "31199|31200|31201|31202|31203|31204|31205|46909|46910|46911|46912|46913|46914|46915|46916|46917|46918|46919|46920|46921|46922|192333|210810|210811|244007|267822|268397|274680|285823|285827|286553|286555|286556|286557|286561|288795|288797|288800|289216|366331|366592|367172|405707|405708|405709|512982|512983|512984|512985|512986|512987|512988|585073|586019|623131|623132|679728|682251|682252|682253|682254|682255|682256|682257|691120|884563|884564|884565|884566|884567|884568|884569|884570|884571|975716", + "upstreamId": "31199|31200|31201|31202|31203|31204|31205|46909|46910|46911|46912|46913|46914|46915|46916|46917|46918|46919|46920|46921|46922|192333|210810|210811|244007|267822|268397|274680|285823|285827|286553|286555|286556|286557|286561|288795|288797|288800|289216|366331|366592|367172|405707|405708|405709|512982|512983|512984|512985|512986|512987|512988|585073|586019|623131|623132|679728|682251|682252|682253|682254|682255|682256|682257|691120|884563|884564|884565|884566|884567|884568|884569|884570|884571|975716", "text": "Navajo neurohepatopathy" }, { - "baseId": "31206|31207|31208|31209|31210|31211|31212|31213|31214|31215|31216|31217|31218|77325|77326|77327|77328|77329|77330|77331|77332|77333|77334|77335|77336|77337|77338|77340|77344|77345|77349|77350|77351|77353|77354|77356|77357|77358|77360|77361|77362|77363|77364|77365|77367|77368|77369|77370|77372|77374|77375|77376|77377|77378|77381|77385|77388|77389|77390|77391|77392|77393|77394|77395|77396|77397|77398|77399|77401|77402|77404|77411|77412|188159|188160|188161|188162|188163|188164|188165|188166|188167|188168|188169|188170|188171|188172|188173|188174|188175|188176|188177|188178|188179|188180|188181|188182|188183|188184|188185|188186|188187|188188|188189|188190|188191|188192|188193|188194|227391|338735|344817|344820|346185|346206|361227|513469|539072|581912|624864|791783|794270|797549|906206|919735|919736", + "upstreamId": "31206|31207|31208|31209|31210|31211|31212|31213|31214|31215|31216|31217|31218|77325|77326|77327|77328|77329|77330|77331|77332|77333|77334|77335|77336|77337|77338|77340|77344|77345|77349|77350|77351|77353|77354|77356|77357|77358|77360|77361|77362|77363|77364|77365|77367|77368|77369|77370|77372|77374|77375|77376|77377|77378|77381|77385|77388|77389|77390|77391|77392|77393|77394|77395|77396|77397|77398|77399|77401|77402|77404|77411|77412|188159|188160|188161|188162|188163|188164|188165|188166|188167|188168|188169|188170|188171|188172|188173|188174|188175|188176|188177|188178|188179|188180|188181|188182|188183|188184|188185|188186|188187|188188|188189|188190|188191|188192|188193|188194|227391|338735|344817|344820|346185|346206|361227|513469|539072|581912|624864|791783|794270|797549|906206|919735|919736", "text": "Alexander Disease" }, { - "baseId": "31219|31220|306647|306648|306655|306657|306659|306660|306664|306665|306668|306669|306671|310827|310837|310838|310839|310843|310845|310849|316265|316276|316285|316287|316291|316292|316295|316301|316316|316334|316335|316348|316349|316363|316367|316575|316581|316582|316583|316585|316592|316609|620317|711742|723308|730604|736859|751372|767080|900971|900972|900973|900974|900975|900976|900977|900978|900979|900980|900981|900982|900983|900984|900985|900986|900987|900988|900989|900990|900991|900992|900993|900994|900995|903307|903308|903309|919183|973055", + "upstreamId": "31219|31220|306647|306648|306655|306657|306659|306660|306664|306665|306668|306669|306671|310827|310837|310838|310839|310843|310845|310849|316265|316276|316285|316287|316291|316292|316295|316301|316316|316334|316335|316348|316349|316363|316367|316575|316581|316582|316583|316585|316592|316609|620317|711742|723308|730604|736859|751372|767080|900971|900972|900973|900974|900975|900976|900977|900978|900979|900980|900981|900982|900983|900984|900985|900986|900987|900988|900989|900990|900991|900992|900993|900994|900995|903307|903308|903309|919183|973055", "text": "Meretoja syndrome" }, { - "baseId": "31221|31222|31223|31224|31225|31226|31227|31228|280953|280954|280955|280967|280969|281497|281502|281504|281507|281508|281509|281510|281525|282697|282703|282705|282706|282707|282724|282727|282728|282729|282734|282741|282978|282980|282981|282982|282992|282993|282995|719034|864652|864653|864654|864655|864656|864657|864658|864659|864660|864661|864662|864663", + "upstreamId": "31221|31222|31223|31224|31225|31226|31227|31228|280953|280954|280955|280967|280969|281497|281502|281504|281507|281508|281509|281510|281525|282697|282703|282705|282706|282707|282724|282727|282728|282729|282734|282741|282978|282980|282981|282982|282992|282993|282995|719034|864652|864653|864654|864655|864656|864657|864658|864659|864660|864661|864662|864663", "text": "Lattice corneal dystrophy Type III" }, { - "baseId": "31229", + "upstreamId": "31229", "text": "Insomnia" }, { - "baseId": "31229|31230|224873|242024|242029|255128|255129|255130|361573|373352|373359|374006|374014|374442|376331|376332|376349|400043|400045|400054|400553|400863|400867|409197|441714|463963|464507|464510|464543|464546|464799|464804|464806|464808|482061|504698|505182|505188|505612|505615|528589|528596|528597|528603|528606|528618|528985|528994|529042|529054|529064|529066|539058|566890|566893|568627|568638|568640|569194|569227|569234|573144|573145|580235|643003|643004|643005|643006|643007|643008|643009|652637|656280|684532|688394|688395|770063|820670|820671|822099|822274|842093|842094|842095|842096|842097|842098|842099|842100|927261|927262|927263|936833|936834|936835|936836|936837|936838|948785|948786|957368|960817", + "upstreamId": "31229|31230|224873|242024|242029|255128|255129|255130|361573|373352|373359|374006|374014|374442|376331|376332|376349|400043|400045|400054|400553|400863|400867|409197|441714|463963|464507|464510|464543|464546|464799|464804|464806|464808|482061|504698|505182|505188|505612|505615|528589|528596|528597|528603|528606|528618|528985|528994|529042|529054|529064|529066|539058|566890|566893|568627|568638|568640|569194|569227|569234|573144|573145|580235|643003|643004|643005|643006|643007|643008|643009|652637|656280|684532|688394|688395|770063|820670|820671|822099|822274|842093|842094|842095|842096|842097|842098|842099|842100|927261|927262|927263|936833|936834|936835|936836|936837|936838|948785|948786|957368|960817", "text": "Epilepsy, childhood absence 1" }, { - "baseId": "31229|31230|31231|31232|205778|242024|242029|255128|255129|255130|361573|373352|373359|374006|374014|374442|376331|376332|376349|400043|400045|400054|400553|400863|400867|409197|429630|441714|463963|464507|464510|464543|464546|464799|464804|464806|464808|482061|504698|505182|505188|505612|505615|528589|528596|528597|528603|528606|528618|528985|528994|529042|529054|529064|529066|529066|566890|566893|568627|568638|568640|568640|569194|569227|569234|573144|573145|580235|643003|643004|643005|643006|643007|643008|643009|652637|656280|684532|688394|688395|770063|820670|820671|822099|822274|842093|842094|842095|842096|842097|842098|842099|842100|927261|927262|927263|936833|936834|936835|936836|936837|936838|948785|948786|957368|960817|963786", + "upstreamId": "31229|31230|31231|31232|205778|242024|242029|255128|255129|255130|361573|373352|373359|374006|374014|374442|376331|376332|376349|400043|400045|400054|400553|400863|400867|409197|429630|441714|463963|464507|464510|464543|464546|464799|464804|464806|464808|482061|504698|505182|505188|505612|505615|528589|528596|528597|528603|528606|528618|528985|528994|529042|529054|529064|529066|529066|566890|566893|568627|568638|568640|568640|569194|569227|569234|573144|573145|580235|643003|643004|643005|643006|643007|643008|643009|652637|656280|684532|688394|688395|770063|820670|820671|822099|822274|842093|842094|842095|842096|842097|842098|842099|842100|927261|927262|927263|936833|936834|936835|936836|936837|936838|948785|948786|957368|960817|963786", "text": "Epilepsy, childhood absence 5" }, { - "baseId": "31233|31234|31236|31237|287336|287337|287342|287344|287348|287350|287355|287360|287362|287368|287370|287371|287378|287379|287382|287383|287385|287387|287388|287390|287395|287397|287409|287415|288088|288089|288090|288091|288092|288095|288099|288100|288103|288128|288145|288153|288159|288160|288162|288164|288167|288170|288171|288175|288189|288191|288192|288193|288201|290754|290762|290773|290804|290816|290817|290820|290821|290822|290836|290837|290841|290842|290844|290845|290846|290847|290848|290858|290860|290861|290862|290866|290867|291017|291018|291027|291028|291031|291032|291038|291041|291042|291057|291058|291060|291069|291071|291072|291073|291089|291091|291108|291110|291111|291114|620096|697687|885487|885488|885489|885490|885491|885492|885493|885494|885495|885496|885497|885498|885499|885500|885501|885502|885503|885504|885505|885506|885507|885508|885509|885510|885511|885512|885513|885514|885515|885516|885517|885518|885519|885520|885521|885522|885523|885524|885525|885526|885527|885528|885529|885530|885531|885532|885533|885534|885535|885536|885537|885538|885539|885540|885541|885542|885543|885544|885545|885546|885547|885548|885549|885550|885551|885552|885553|885554|885555|885556|885557|885558|885559|885560|885561|885562|885563|885564|885565|885566|885567|885568|887404|887405|887406|980316|980317", + "upstreamId": "31233|31234|31236|31237|287336|287337|287342|287344|287348|287350|287355|287360|287362|287368|287370|287371|287378|287379|287382|287383|287385|287387|287388|287390|287395|287397|287409|287415|288088|288089|288090|288091|288092|288095|288099|288100|288103|288128|288145|288153|288159|288160|288162|288164|288167|288170|288171|288175|288189|288191|288192|288193|288201|290754|290762|290773|290804|290816|290817|290820|290821|290822|290836|290837|290841|290842|290844|290845|290846|290847|290848|290858|290860|290861|290862|290866|290867|291017|291018|291027|291028|291031|291032|291038|291041|291042|291057|291058|291060|291069|291071|291072|291073|291089|291091|291108|291110|291111|291114|620096|697687|885487|885488|885489|885490|885491|885492|885493|885494|885495|885496|885497|885498|885499|885500|885501|885502|885503|885504|885505|885506|885507|885508|885509|885510|885511|885512|885513|885514|885515|885516|885517|885518|885519|885520|885521|885522|885523|885524|885525|885526|885527|885528|885529|885530|885531|885532|885533|885534|885535|885536|885537|885538|885539|885540|885541|885542|885543|885544|885545|885546|885547|885548|885549|885550|885551|885552|885553|885554|885555|885556|885557|885558|885559|885560|885561|885562|885563|885564|885565|885566|885567|885568|887404|887405|887406|980316|980317", "text": "Vitamin K-dependent clotting factors, combined deficiency of, 1" }, { - "baseId": "31235|31238|31239|31240|31241|31242|31243|31244|31245|983672|983674", + "upstreamId": "31235|31238|31239|31240|31241|31242|31243|31244|31245|983672|983674", "text": "Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency" }, { - "baseId": 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"31246|31247|31247|31248|31249|31250|75270|99340|99341|99341|134572|134573|134573|134574|134575|141120|141124|141130|141132|177736|194858|201870|201876|201880|201881|201883|201884|201891|201892|201895|201896|201897|201898|201901|212514|239783|239784|266793|274648|298665|303103|368346|369732|394173|394844|394915|394920|395098|395103|395437|395439|406691|443745|453622|454805|455394|455395|455397|455659|486743|521227|521485|521493|521495|536690|560253|560255|560364|560366|563018|563022|565001|579117|614284|633701|633702|633703|633704|633705|633706|633707|633708|633709|633710|633711|633712|633713|661224|683728|685184|686717|686718|686720|689792|691815|782240|787275|793083|819569|819570|819571|819572|821913|830598|830599|830600|830601|830602|830603|830604|830605|830606|830607|830608|851276|851278|923982|923983|923984|923985|932825|932826|932827|932828|932829|932830|940812|940813|944523|944524|944525|944526|944527|944528|944529|959761", "text": "Familial febrile seizures 8" }, { - "baseId": "31247|31247|31249|75270|99340|99341|99341|134572|134573|134573|134574|134574|134575|134575|141120|141120|141124|141124|141130|141130|141132|177736|194858|201870|201875|201876|201880|201881|201883|201884|201889|201891|201891|201892|201895|201896|201897|201898|201898|201901|212514|239783|239784|266793|274648|296772|296775|296788|296789|296791|296792|296793|296798|298646|298657|298665|298665|298668|298685|298686|298687|298702|298707|302892|302893|302894|302895|302898|302899|302900|302922|302923|302924|302925|302930|302931|302933|303093|303101|303102|303103|303103|303105|303112|303113|303117|303119|303120|303121|368346|368501|369732|394173|394844|394915|394920|395098|395103|395437|395439|406691|443745|453622|454805|455394|455395|455397|455659|521227|521485|521493|521495|536690|560253|560255|560364|560366|563018|563022|563022|565001|579117|579117|614284|633701|633702|633703|633704|633705|633706|633707|633708|633709|633710|633711|633712|633713|661224|683728|685184|686717|686718|686720|689792|691815|782240|787275|790534|793083|819569|819570|819571|819572|821913|830598|830599|830600|830601|830602|830603|830604|830605|830606|830607|830608|851276|851278|893821|893822|893823|893824|893825|893826|893827|893828|893829|893830|893831|893832|893833|893834|893835|893836|893837|893838|923982|923983|923984|923985|932825|932826|932827|932828|932829|932830|940812|940813|944523|944523|944524|944525|944526|944527|944528|944529|959761", + "upstreamId": "31247|31247|31249|75270|99340|99341|99341|134572|134573|134573|134574|134574|134575|134575|141120|141120|141124|141124|141130|141130|141132|177736|194858|201870|201875|201876|201880|201881|201883|201884|201889|201891|201891|201892|201895|201896|201897|201898|201898|201901|212514|239783|239784|266793|274648|296772|296775|296788|296789|296791|296792|296793|296798|298646|298657|298665|298665|298668|298685|298686|298687|298702|298707|302892|302893|302894|302895|302898|302899|302900|302922|302923|302924|302925|302930|302931|302933|303093|303101|303102|303103|303103|303105|303112|303113|303117|303119|303120|303121|368346|368501|369732|394173|394844|394915|394920|395098|395103|395437|395439|406691|443745|453622|454805|455394|455395|455397|455659|521227|521485|521493|521495|536690|560253|560255|560364|560366|563018|563022|563022|565001|579117|579117|614284|633701|633702|633703|633704|633705|633706|633707|633708|633709|633710|633711|633712|633713|661224|683728|685184|686717|686718|686720|689792|691815|782240|787275|790534|793083|819569|819570|819571|819572|821913|830598|830599|830600|830601|830602|830603|830604|830605|830606|830607|830608|851276|851278|893821|893822|893823|893824|893825|893826|893827|893828|893829|893830|893831|893832|893833|893834|893835|893836|893837|893838|923982|923983|923984|923985|932825|932826|932827|932828|932829|932830|940812|940813|944523|944523|944524|944525|944526|944527|944528|944529|959761", "text": "Epilepsy, childhood absence 2" }, { - "baseId": "31251|31252", + "upstreamId": "31251|31252", "text": "Generalized epilepsy with febrile seizures plus type 5" }, { - "baseId": "31252", + "upstreamId": "31252", "text": "Epilepsy, juvenile myoclonic 7" }, { - "baseId": "31252|440430|447685|583078|918590|969599|970672", + "upstreamId": "31252|440430|447685|583078|918590|969599|970672", "text": "Epilepsy, idiopathic generalized 10" }, { - "baseId": 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+ "upstreamId": "31253|99338|99339|99339|132585|132585|132687|132688|134569|134570|134571|134571|141110|141111|141112|141113|141113|141114|141115|141115|141116|141117|141117|141118|141119|141119|193450|194328|195911|201852|201853|201860|201860|201861|201862|259817|259818|259819|296741|296742|296743|296745|296746|296748|296749|296754|296756|296757|296758|296763|296765|296769|298611|298619|298625|298626|298629|298631|298635|298638|298644|302793|302794|302797|302800|302801|302838|302847|302848|302875|302884|302888|302891|303037|303050|303051|303065|303083|303085|303086|303087|359664|368035|368330|369730|406687|454795|454797|454898|454906|454911|454916|454921|454923|455387|455392|488955|520982|521214|521221|521404|560360|560362|563011|563015|563016|565000|576799|579039|579119|614283|633696|633697|633698|633699|633700|685183|685183|686713|686715|749397|765001|782239|819641|821909|821910|821911|821912|830594|830595|830596|830597|851896|852198|893780|893781|893782|893783|893784|893785|893786|893787|893788|893789|893790|893791|893792|893793|893794|893795|893796|893797|893798|893799|893800|893801|893802|893803|893804|893805|893806|893807|893808|893809|893810|893811|893812|893813|893814|893815|893816|893817|893818|893819|893820|896074|896075|923975|923976|923977|923978|923979|923980|923981|932820|932821|932822|932823|932824|944517|944518|944519|944520|944521|944522|954105|960559", "text": "Epilepsy, juvenile myoclonic 5" }, { - "baseId": "31254|99339|132585|134571|141112|141113|141114|141115|141116|141117|141118|141119|193450|194328|195911|201852|201853|201860|201861|201862|259817|259818|259819|359664|368035|368330|369730|406687|454795|454797|454898|454906|454911|454916|454921|454923|455387|455392|488955|520982|521214|521221|521404|560360|560362|563011|563015|563016|565000|576799|579039|579119|633696|633697|633698|633699|633700|685183|686713|686715|749397|765001|782239|819641|821909|821910|821911|821912|830594|830595|830596|830597|851896|852198|923975|923976|923977|923978|923979|923980|923981|932820|932821|932822|932823|932824|944517|944518|944519|944520|944521|944522|954105|960559", + "upstreamId": "31254|99339|132585|134571|141112|141113|141114|141115|141116|141117|141118|141119|193450|194328|195911|201852|201853|201860|201861|201862|259817|259818|259819|359664|368035|368330|369730|406687|454795|454797|454898|454906|454911|454916|454921|454923|455387|455392|488955|520982|521214|521221|521404|560360|560362|563011|563015|563016|565000|576799|579039|579119|633696|633697|633698|633699|633700|685183|686713|686715|749397|765001|782239|819641|821909|821910|821911|821912|830594|830595|830596|830597|851896|852198|923975|923976|923977|923978|923979|923980|923981|932820|932821|932822|932823|932824|944517|944518|944519|944520|944521|944522|954105|960559", "text": "Epilepsy, childhood absence 4" }, { - "baseId": 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+ "upstreamId": 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"text": "Gamma-aminobutyric acid transaminase deficiency" }, { - "baseId": "31257|31258|31259", + "upstreamId": "31257|31258|31259", "text": "Alcoholism, susceptibility to" }, { - "baseId": "31260", + "upstreamId": "31260", "text": "Amyotrophic lateral sclerosis 6, autosomal recessive" }, { - "baseId": 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+ "upstreamId": "31261|31261|31262|31263|31264|31265|31266|31267|38662|38663|45745|255698|255699|255699|255700|255700|255702|255705|255705|264787|325119|325121|325121|325125|325126|325127|325127|325133|325136|325144|325145|325147|325148|325149|325153|325154|325158|334778|334784|334786|334787|334788|334816|334820|334827|334828|334834|334836|334839|334841|341258|341258|341259|341263|341264|341268|341269|341272|341273|341274|341284|341286|341289|341292|341293|341301|341306|341311|341316|341318|341320|341321|341324|342763|342765|342767|342769|342775|342778|342789|342790|342791|342793|342794|342799|342804|342805|342809|342810|342813|360997|422093|438008|438008|441901|441901|441904|441905|486142|495622|529932|529932|530247|530247|530252|530252|530443|530443|530447|530449|568102|570256|570258|574045|644615|644616|644617|644618|644619|644620|644621|644622|644623|693845|693847|693848|693848|693849|693850|703659|740157|770875|778292|791586|791587|793636|820825|843771|843772|843773|843774|843775|843775|843776|851669|861409|861410|861411|861412|861452|875120|875121|875122|875123|875124|875125|875126|875126|875127|875127|875128|875129|875130|875131|875132|875133|875134|875135|875136|875137|875138|875139|875140|875141|875142|875143|875144|875145|875146|875147|875148|875149|875150|875151|875152|875153|875154|875155|875156|875157|875158|875159|875160|875161|875162|875163|875164|875165|875166|875167|875168|875169|875170|876654|876655|876656|876657|876658|876659|921528|927785|937417|949376|957738|957739|977364", "text": "Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia" }, { - "baseId": "31261|31266|45745|45745|45746|255699|255700|255705|264787|325121|325125|325127|341258|438008|441901|441904|486142|495622|529932|530247|530252|530443|530447|530449|568102|570256|570258|574045|644615|644616|644617|644618|644619|644620|644621|644622|644623|693845|693847|693848|693849|693850|703659|740157|770875|778292|793636|820825|843771|843772|843773|843774|843775|843776|851669|875126|875127|927785|937417|949376|957738|957739", + "upstreamId": "31261|31266|45745|45745|45746|255699|255700|255705|264787|325121|325125|325127|341258|438008|441901|441904|486142|495622|529932|530247|530252|530443|530447|530449|568102|570256|570258|574045|644615|644616|644617|644618|644619|644620|644621|644622|644623|693845|693847|693848|693849|693850|703659|740157|770875|778292|793636|820825|843771|843772|843773|843774|843775|843776|851669|875126|875127|927785|937417|949376|957738|957739", "text": "Tremor, hereditary essential, 4" }, { - "baseId": "31268|790903", + "upstreamId": "31268|790903", "text": "B4GALT1-CDG" }, { - "baseId": 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"text": "Fumarase deficiency" }, { - "baseId": "31271|31273|31274|31275|31276|31277|38660|50021|50024|98356|98357|98360|98361|98364|98365|98367|98367|138152|138154|141073|141074|141075|141076|151752|151789|152368|177061|177192|181638|181639|181641|181642|195206|195552|204603|204604|210649|210651|210663|210670|210671|210673|210677|210685|210696|210701|210706|210707|210711|210712|238253|238255|238258|238262|238263|259659|263987|280141|280156|280159|280161|280165|280166|280167|280504|280508|280509|280521|280522|280523|281814|281817|281818|281821|281822|281825|281943|281944|281945|281954|380447|380448|380449|380450|380451|380452|380453|380454|380455|380456|380457|380458|380459|380460|380461|380462|380463|380464|380465|380466|380467|380468|380469|380470|380471|380472|380473|391106|391171|447679|447916|448056|513996|627663|677031|806555|815966|864177|864178|864179|865167|921452", + "upstreamId": "31271|31273|31274|31275|31276|31277|38660|50021|50024|98356|98357|98360|98361|98364|98365|98367|98367|138152|138154|141073|141074|141075|141076|151752|151789|152368|177061|177192|181638|181639|181641|181642|195206|195552|204603|204604|210649|210651|210663|210670|210671|210673|210677|210685|210696|210701|210706|210707|210711|210712|238253|238255|238258|238262|238263|259659|263987|280141|280156|280159|280161|280165|280166|280167|280504|280508|280509|280521|280522|280523|281814|281817|281818|281821|281822|281825|281943|281944|281945|281954|380447|380448|380449|380450|380451|380452|380453|380454|380455|380456|380457|380458|380459|380460|380461|380462|380463|380464|380465|380466|380467|380468|380469|380470|380471|380472|380473|391106|391171|447679|447916|448056|513996|627663|677031|806555|815966|864177|864178|864179|865167|921452", "text": "Hereditary leiomyomatosis and renal cell cancer" }, { - "baseId": "31278|227409|967235|967236|967237", + "upstreamId": "31278|227409|967235|967236|967237", "text": "Fucosyltransferase 6 deficiency" }, { - "baseId": "31279|31280|31281|187217|254134|313835|313839|313840|313853|313854|320035|320036|326220|327162|327163|327165|327173|327174|327183|327188|327189|362186|867813|867814|867815|867816|867817|867818|867819", + "upstreamId": "31279|31280|31281|187217|254134|313835|313839|313840|313853|313854|320035|320036|326220|327162|327163|327165|327173|327174|327183|327188|327189|362186|867813|867814|867815|867816|867817|867818|867819", "text": "Hypogonadotropic hypogonadism 24 without anosmia" }, { - "baseId": "31282|31283|31284|31285|31286|31287|31290|38659|70669|70670|70671|70672|70673|141106|250748|286704|286713|286715|287414|287431|287432|287433|287434|289861|289862|289864|290218|290222|290227|290234|290235|290241|290250|586941|763346|885146|885147|885148|885149|885150|885151|885152|885153|885154|885155|885156|885157|885158|885159|885160|885161|885162|885163|885164|885165|885166|885167|885168|885169|885170|983728|983729", + "upstreamId": "31282|31283|31284|31285|31286|31287|31290|38659|70669|70670|70671|70672|70673|141106|250748|286704|286713|286715|287414|287431|287432|287433|287434|289861|289862|289864|290218|290222|290227|290234|290235|290241|290250|586941|763346|885146|885147|885148|885149|885150|885151|885152|885153|885154|885155|885156|885157|885158|885159|885160|885161|885162|885163|885164|885165|885166|885167|885168|885169|885170|983728|983729", "text": "Ovarian dysgenesis 1" }, { - "baseId": "31283|31285|31286|31288|31289|31291|31292|31293|141106|250748|286704|286713|286715|286718|287414|287430|287431|287432|287433|287434|289861|289862|289863|289864|290218|290222|290227|290234|290235|290241|290250|353573|586941|763346|885146|885147|885148|885149|885150|885151|885152|885153|885154|885155|885156|885157|885158|885159|885160|885161|885162|885163|885164|885165|885166|885167|885168|885169|885170", + "upstreamId": "31283|31285|31286|31288|31289|31291|31292|31293|141106|250748|286704|286713|286715|286718|287414|287430|287431|287432|287433|287434|289861|289862|289863|289864|290218|290222|290227|290234|290235|290241|290250|353573|586941|763346|885146|885147|885148|885149|885150|885151|885152|885153|885154|885155|885156|885157|885158|885159|885160|885161|885162|885163|885164|885165|885166|885167|885168|885169|885170", "text": "Ovarian hyperstimulation syndrome" }, { - "baseId": "31285", + "upstreamId": "31285", "text": "Ovarian response to FSH stimulation" }, { - "baseId": "31294|31295|31296|45590|101647|141090|177716|192477|193636|193637|194991|194992|202609|202610|202614|202615|202618|315126|315127|321930|328012|329212|329241|372428|372430|372433|372436|372677|408467|421888|444885|461451|461455|461458|461669|461671|461985|503782|526769|566170|567519|567520|567523|579755|640441|640442|640443|640444|640445|640446|640447|768748|768749|820435|838984|838985|838986|838987|852633|868780|868781|917748|926382|926383|935773|935774|935775|935776|947654", + "upstreamId": "31294|31295|31296|45590|101647|141090|177716|192477|193636|193637|194991|194992|202609|202610|202614|202615|202618|315126|315127|321930|328012|329212|329241|372428|372430|372433|372436|372677|408467|421888|444885|461451|461455|461458|461669|461671|461985|503782|526769|566170|567519|567520|567523|579755|640441|640442|640443|640444|640445|640446|640447|768748|768749|820435|838984|838985|838986|838987|852633|868780|868781|917748|926382|926383|935773|935774|935775|935776|947654", "text": "Cerebral folate transport deficiency" }, { - "baseId": "31298|31299|31300|31301|31302|31304|31305|31306|31307|31308|679746|918951|918952|918953", + "upstreamId": "31298|31299|31300|31301|31302|31304|31305|31306|31307|31308|679746|918951|918952|918953", "text": "Hereditary lymphedema type I" }, { - "baseId": "31309", + "upstreamId": "31309", "text": "Leukemia, acute myeloid, reduced survival in, somatic" }, { - "baseId": "31318|31321|31330|31332|31333|31335|31337|31340|31341|31342|136393|136394|136395|136396|178334|181583|191949|191949|192053|192053|193672|193672|193673|193674|193674|236849|305196|305197|305206|305210|305211|305213|305216|305216|305217|305227|305229|308949|308950|308954|308955|308965|308966|308967|308968|308969|308987|308988|308989|308989|308990|308991|308992|308993|308993|308994|308994|308995|309017|309019|309020|314169|314172|314173|314175|314176|314177|314180|314181|314182|314183|314185|314186|314189|314193|314194|314195|314196|314199|314200|314200|314201|314204|314205|314206|314207|314209|314210|314213|314213|314217|314217|314219|314220|314222|314223|314228|314231|314237|314238|370233|371850|371850|384419|425792|425793|425793|428839|458465|458466|458898|458901|472259|493549|513216|513216|523562|523565|523567|523886|524155|539141|539142|562414|562416|577061|637202|651969|679003|679934|679935|684009|687284|687287|687290|689918|689920|819961|834738|834739|851694|899458|899459|899460|899461|899462|899463|899464|899465|899466|899467|899468|899469|899470|899471|899472|899473|899474|899475|899476|899477|899478|899479|899480|899481|899482|899483|899484|899485|899486|899487|899488|899489|899490|899491|899492|899493|899494|899495|899496|899497|899498|899499|899500|899501|899502|899503|899504|899505|899506|899507|899508|899509|899510|899511|899512|900485|900486|900487|925198|925199|925200|934303|934304|946062|946063|962716|963106|963107|963108|963109|963110|963111|963112|963113", + "upstreamId": "31318|31321|31330|31332|31333|31335|31337|31340|31341|31342|136393|136394|136395|136396|178334|181583|191949|191949|192053|192053|193672|193672|193673|193674|193674|236849|305196|305197|305206|305210|305211|305213|305216|305216|305217|305227|305229|308949|308950|308954|308955|308965|308966|308967|308968|308969|308987|308988|308989|308989|308990|308991|308992|308993|308993|308994|308994|308995|309017|309019|309020|314169|314172|314173|314175|314176|314177|314180|314181|314182|314183|314185|314186|314189|314193|314194|314195|314196|314199|314200|314200|314201|314204|314205|314206|314207|314209|314210|314213|314213|314217|314217|314219|314220|314222|314223|314228|314231|314237|314238|370233|371850|371850|384419|425792|425793|425793|428839|458465|458466|458898|458901|472259|493549|513216|513216|523562|523565|523567|523886|524155|539141|539142|562414|562416|577061|637202|651969|679003|679934|679935|684009|687284|687287|687290|689918|689920|819961|834738|834739|851694|899458|899459|899460|899461|899462|899463|899464|899465|899466|899467|899468|899469|899470|899471|899472|899473|899474|899475|899476|899477|899478|899479|899480|899481|899482|899483|899484|899485|899486|899487|899488|899489|899490|899491|899492|899493|899494|899495|899496|899497|899498|899499|899500|899501|899502|899503|899504|899505|899506|899507|899508|899509|899510|899511|899512|900485|900486|900487|925198|925199|925200|934303|934304|946062|946063|962716|963106|963107|963108|963109|963110|963111|963112|963113", "text": "Hypogonadotropic hypogonadism 2 with or without anosmia" }, { - "baseId": "31319|31320|31322|31323|31324|31334|31335|31336|31338|31339|59835|59836|59837|59838", + "upstreamId": "31319|31320|31322|31323|31324|31334|31335|31336|31338|31339|59835|59836|59837|59838", "text": "Hypogonadotropic hypogonadism 2 with anosmia" }, { - "baseId": "31321|31332|59853|178327|178328|178330|178331|178332|178335|178336|178337|178338|178339|178340|178341|178343|263372", + "upstreamId": "31321|31332|59853|178327|178328|178330|178331|178332|178335|178336|178337|178338|178339|178340|178341|178343|263372", "text": "Delayed puberty" }, { - "baseId": "31325|31326|31327|31329|191949|192053|193672|193674|305196|305197|305206|305210|305211|305213|305216|305217|305227|305229|308949|308950|308951|308954|308955|308965|308966|308967|308968|308969|308987|308988|308989|308990|308991|308992|308993|308994|308995|309017|309019|309020|314169|314172|314173|314175|314176|314177|314180|314181|314182|314183|314185|314186|314189|314193|314194|314195|314196|314199|314200|314201|314204|314205|314206|314207|314209|314210|314213|314217|314219|314220|314222|314223|314228|314231|314237|314238|370233|371850|513216|523886|577061|623634|687284|687287|689918|790799|899458|899459|899460|899461|899462|899463|899464|899465|899466|899467|899468|899469|899470|899471|899472|899473|899474|899475|899476|899477|899478|899479|899480|899481|899482|899483|899484|899485|899486|899487|899488|899489|899490|899491|899492|899493|899494|899495|899496|899497|899498|899499|899500|899501|899502|899503|899504|899505|899506|899507|899508|899509|899510|899511|899512|900485|900486|900487", + "upstreamId": "31325|31326|31327|31329|191949|192053|193672|193674|305196|305197|305206|305210|305211|305213|305216|305217|305227|305229|308949|308950|308951|308954|308955|308965|308966|308967|308968|308969|308987|308988|308989|308990|308991|308992|308993|308994|308995|309017|309019|309020|314169|314172|314173|314175|314176|314177|314180|314181|314182|314183|314185|314186|314189|314193|314194|314195|314196|314199|314200|314201|314204|314205|314206|314207|314209|314210|314213|314217|314219|314220|314222|314223|314228|314231|314237|314238|370233|371850|513216|523886|577061|623634|687284|687287|689918|790799|899458|899459|899460|899461|899462|899463|899464|899465|899466|899467|899468|899469|899470|899471|899472|899473|899474|899475|899476|899477|899478|899479|899480|899481|899482|899483|899484|899485|899486|899487|899488|899489|899490|899491|899492|899493|899494|899495|899496|899497|899498|899499|899500|899501|899502|899503|899504|899505|899506|899507|899508|899509|899510|899511|899512|900485|900486|900487", "text": "Osteoglophonic dysplasia" }, { - "baseId": "31328|191949|192053|193672|193674|305196|305197|305206|305210|305211|305213|305216|305217|305227|305229|308949|308950|308954|308955|308965|308966|308967|308968|308969|308987|308988|308989|308990|308991|308992|308993|308994|308995|309017|309019|309020|314169|314172|314173|314175|314176|314177|314180|314181|314182|314183|314185|314186|314189|314193|314194|314195|314196|314199|314200|314201|314204|314205|314206|314207|314209|314210|314213|314217|314219|314220|314222|314223|314228|314231|314237|314238|370233|371850|513216|523886|577061|687284|687287|689918|899458|899459|899460|899461|899462|899463|899464|899465|899466|899467|899468|899469|899470|899471|899472|899473|899474|899475|899476|899477|899478|899479|899480|899481|899482|899483|899484|899485|899486|899487|899488|899489|899490|899491|899492|899493|899494|899495|899496|899497|899498|899499|899500|899501|899502|899503|899504|899505|899506|899507|899508|899509|899510|899511|899512|900485|900486|900487", + "upstreamId": "31328|191949|192053|193672|193674|305196|305197|305206|305210|305211|305213|305216|305217|305227|305229|308949|308950|308954|308955|308965|308966|308967|308968|308969|308987|308988|308989|308990|308991|308992|308993|308994|308995|309017|309019|309020|314169|314172|314173|314175|314176|314177|314180|314181|314182|314183|314185|314186|314189|314193|314194|314195|314196|314199|314200|314201|314204|314205|314206|314207|314209|314210|314213|314217|314219|314220|314222|314223|314228|314231|314237|314238|370233|371850|513216|523886|577061|687284|687287|689918|899458|899459|899460|899461|899462|899463|899464|899465|899466|899467|899468|899469|899470|899471|899472|899473|899474|899475|899476|899477|899478|899479|899480|899481|899482|899483|899484|899485|899486|899487|899488|899489|899490|899491|899492|899493|899494|899495|899496|899497|899498|899499|899500|899501|899502|899503|899504|899505|899506|899507|899508|899509|899510|899511|899512|900485|900486|900487", "text": "Trigonocephaly 1" }, { - "baseId": "31343|31344|31345|31346|31347|31348|31350|31351|31352|31353|31354|31355|31356|31357|34316|38476|227205|227206|249537|249538|249541|249542|249543|249544|249547|277401|277402|277403|277592|277598|277600|277608|278457|278458|278462|278464|278466|278467|278468|278469|278470|278486|553150|553151|619969|619970|718385|862785|862786|862787|862788|862789|862790|862791|862792|862793|862794|862795|862796|862797|862798|862799|862800|862801|862802|865034|865035|865036", + "upstreamId": "31343|31344|31345|31346|31347|31348|31350|31351|31352|31353|31354|31355|31356|31357|34316|38476|227205|227206|249537|249538|249541|249542|249543|249544|249547|277401|277402|277403|277592|277598|277600|277608|278457|278458|278462|278464|278466|278467|278468|278469|278470|278486|553150|553151|619969|619970|718385|862785|862786|862787|862788|862789|862790|862791|862792|862793|862794|862795|862796|862797|862798|862799|862800|862801|862802|865034|865035|865036", "text": "Trimethylaminuria" }, { - "baseId": "31349", + "upstreamId": "31349", "text": "FMO3 activity, decreased" }, { - "baseId": "31358|31358|31358|31359|31359|31360|65592|65594|65594|132362|205128|227198|227199|227200|227201|259625|259629|259630|263950|263963|361156|404743|404918|438932|513891|514416|538328|578363|626093|682425|918558|970659", + "upstreamId": "31358|31358|31358|31359|31359|31360|65592|65594|65594|132362|205128|227198|227199|227200|227201|259625|259629|259630|263950|263963|361156|404743|404918|438932|513891|514416|538328|578363|626093|682425|918558|970659", "text": "Ichthyosis vulgaris" }, { - "baseId": "31358|31359|31360|404918", + "upstreamId": "31358|31359|31360|404918", "text": "Dermatitis, atopic, 2, susceptibility to" }, { - "baseId": "31358|31358|31359|31359|65592|65594|65594|259630|438932|513491|514416|538328", + "upstreamId": "31358|31358|31359|31359|65592|65594|65594|259630|438932|513491|514416|538328", "text": "Dermatitis, atopic, 2" }, { - "baseId": "31358|360928|514093|514094", + "upstreamId": "31358|360928|514093|514094", "text": "Dermatitis, atopic" }, { - "baseId": "31358|31359|263393", + "upstreamId": "31358|31359|263393", "text": "Eczema" }, { - "baseId": "31358|259630|263950", + "upstreamId": "31358|259630|263950", "text": "FLG-related disorders" }, { - "baseId": "31359", + "upstreamId": "31359", "text": "FLG-Related Disorder" }, { - "baseId": "31362|31363|31364|190044|190045|190046|576097|733142|804845|818182|965213|975946", + "upstreamId": "31362|31363|31364|190044|190045|190046|576097|733142|804845|818182|965213|975946", "text": "Glomerulopathy with fibronectin deposits 2" }, { - "baseId": "31365", + "upstreamId": "31365", "text": "Cancer progression and tumor cell motility" }, { - "baseId": "31366|31367|31369|31376|31395|576111|964230", + "upstreamId": "31366|31367|31369|31376|31395|576111|964230", "text": "Achondroplasia" }, { - "baseId": "31367|31376|31377|31379|31383|31384|31385|31386|31387|31388|31395|31396|31397|76434|76435|76731|76734|76737|76763|76788|76808|76809|76823|76824|138143|138148|576111|790461|964231|970790", + "upstreamId": "31367|31376|31377|31379|31383|31384|31385|31386|31387|31388|31395|31396|31397|76434|76435|76731|76734|76737|76763|76788|76808|76809|76823|76824|138143|138148|576111|790461|964231|970790", "text": "Hypochondroplasia" }, { - "baseId": "31368|361702|576111", + "upstreamId": "31368|361702|576111", "text": "Crouzon syndrome with acanthosis nigricans" }, { - "baseId": "31370|966849", + "upstreamId": "31370|966849", "text": "Thanatophoric dysplasia, type 2" }, { - "baseId": "31371|31372|31373|31374|31375|31378|31380|31381|31398|76469|76470|76471|76472|621895|966849", + "upstreamId": "31371|31372|31373|31374|31375|31378|31380|31381|31398|76469|76470|76471|76472|621895|966849", "text": "Thanatophoric dysplasia type 1" }, { - "baseId": "31371", + "upstreamId": "31371", "text": "Skeletal dysplasia with acanthosis nigricans" }, { - "baseId": "31379|964111", + "upstreamId": "31379|964111", "text": "Muenke syndrome" }, { - "baseId": "31380", + "upstreamId": "31380", "text": "SEVERE ACHONDRODYSPLASIA WITH DEVELOPMENTAL DELAY AND ACANTHOSIS NIGRICANS" }, { - "baseId": "31387|363578", + "upstreamId": "31387|363578", "text": "Acanthosis nigricans" }, { - "baseId": "31394|166328|576111|615789", + "upstreamId": "31394|166328|576111|615789", "text": "Camptodactyly-tall stature-scoliosis-hearing loss syndrome" }, { - "baseId": "31400", + "upstreamId": "31400", "text": "FIBRINOGEN TOKYO 2" }, { - "baseId": "31400|31401|31415|31417|31421|31430|31435|31441|31443|31454|496315|615377|615379|615380|615381|615382|615383|615384|615385|615386|615387|615388|615389", + "upstreamId": "31400|31401|31415|31417|31421|31430|31435|31441|31443|31454|496315|615377|615379|615380|615381|615382|615383|615384|615385|615386|615387|615388|615389", "text": "Hypofibrinogenemia" }, { - "baseId": "31401", + "upstreamId": "31401", "text": "FIBRINOGEN HAIFA 1" }, { - "baseId": "31402", + "upstreamId": "31402", "text": "FIBRINOGEN BALTIMORE 1" }, { - "baseId": "31403", + "upstreamId": "31403", "text": "FIBRINOGEN KYOTO 1" }, { - "baseId": "31404", + "upstreamId": "31404", "text": "FIBRINOGEN BALTIMORE 3" }, { - "baseId": "31405", + "upstreamId": "31405", "text": "FIBRINOGEN ASAHI" }, { - "baseId": "31406", + "upstreamId": "31406", "text": "FIBRINOGEN VLISSINGEN 1" }, { - "baseId": "31407", + "upstreamId": "31407", "text": "FIBRINOGEN NAGOYA 1" }, { - "baseId": "31408", + "upstreamId": "31408", "text": "FIBRINOGEN KYOTO 3" }, { - "baseId": "31409", + "upstreamId": "31409", "text": "FIBRINOGEN MILANO 1" }, { - "baseId": "31410", + "upstreamId": "31410", "text": "FIBRINOGEN PARIS 1" }, { - "baseId": "31411", + "upstreamId": "31411", "text": "FIBRINOGEN OSLO III" }, { - "baseId": "31412", + "upstreamId": "31412", "text": "FIBRINOGEN OSAKA 5" }, { - "baseId": "31413", + "upstreamId": "31413", "text": "FIBRINOGEN MATSUMOTO 1" }, { - "baseId": "31414", + "upstreamId": "31414", "text": "FIBRINOGEN GIESSEN 4" }, { - "baseId": "31415|31416|31417|31419|31423|31428|31429|31431|31432|31434|31435|31453|31454|31456|31459|237254|251340|251341|251343|251344|251345|292471|292473|292477|292478|292487|292488|292493|292501|292502|292505|292506|292513|292514|292527|293902|293903|293904|293905|293907|293913|293914|293924|293930|293931|293932|293933|293934|293935|293939|293943|297187|297196|297197|297200|297216|297220|297221|297222|297223|297229|297230|297241|297245|297256|297269|297281|297288|297290|297292|297293|297297|297299|297300|297303|297304|297305|297307|297313|297314|297315|297321|297334|297337|297349|297350|297353|297369|297371|297374|297375|353667|389197|496315|496316|538367|615375|615393|683623|709203|709204|779010|789171|789245|789247|795545|890231|890232|890233|890234|890235|890236|890237|890238|890239|890240|890241|890242|890243|890244|890245|890246|890247|890248|890249|890250|890251|890252|890253|890254|890255|890256|890257|890258|890259|890260|890261|890262|890263|890264|890265|890266|890267|890268|890269|890270|890271|890272|890273|890274|890275|890276|890277|891753|891754", + "upstreamId": "31415|31416|31417|31419|31423|31428|31429|31431|31432|31434|31435|31453|31454|31456|31459|237254|251340|251341|251343|251344|251345|292471|292473|292477|292478|292487|292488|292493|292501|292502|292505|292506|292513|292514|292527|293902|293903|293904|293905|293907|293913|293914|293924|293930|293931|293932|293933|293934|293935|293939|293943|297187|297196|297197|297200|297216|297220|297221|297222|297223|297229|297230|297241|297245|297256|297269|297281|297288|297290|297292|297293|297297|297299|297300|297303|297304|297305|297307|297313|297314|297315|297321|297334|297337|297349|297350|297353|297369|297371|297374|297375|353667|389197|496315|496316|538367|615375|615393|683623|709203|709204|779010|789171|789245|789247|795545|890231|890232|890233|890234|890235|890236|890237|890238|890239|890240|890241|890242|890243|890244|890245|890246|890247|890248|890249|890250|890251|890252|890253|890254|890255|890256|890257|890258|890259|890260|890261|890262|890263|890264|890265|890266|890267|890268|890269|890270|890271|890272|890273|890274|890275|890276|890277|891753|891754", "text": "Afibrinogenemia, congenital" }, { - "baseId": "31417", + "upstreamId": "31417", "text": "Fibrinogen Milano XII, digenic" }, { - "baseId": "31418", + "upstreamId": "31418", "text": "FIBRINOGEN HILLSBOROUGH" }, { - "baseId": "31420", + "upstreamId": "31420", "text": "FIBRINOGEN NEW YORK 1" }, { - "baseId": "31421", + "upstreamId": "31421", "text": "FIBRINOGEN CHRISTCHURCH 2" }, { - "baseId": "31422", + "upstreamId": "31422", "text": "FIBRINOGEN PONTOISE 2" }, { - "baseId": "31423", + "upstreamId": "31423", "text": "FIBRINOGEN BALTIMORE 2" }, { - "baseId": "31424", + "upstreamId": "31424", "text": "FIBRINOGEN ISE" }, { - "baseId": "31425", + "upstreamId": "31425", "text": "FIBRINOGEN NIJMEGEN" }, { - "baseId": "31426", + "upstreamId": "31426", "text": "FIBRINOGEN NAPLES" }, { - "baseId": "31427", + "upstreamId": "31427", "text": "FIBRINOGEN-BETA POLYMORPHISM" }, { - "baseId": "31430", + "upstreamId": "31430", "text": "FIBRINOGEN LONGMONT" }, { - "baseId": "31433", + "upstreamId": "31433", "text": "FIBRINOGEN, BETA-148 POLYMORPHISM" }, { - "baseId": "31436", + "upstreamId": "31436", "text": "FIBRINOGEN LILLE 1" }, { - "baseId": "31437", + "upstreamId": "31437", "text": "FIBRINOGEN ROUEN 1" }, { - "baseId": "31438|31443", + "upstreamId": "31438|31443", "text": "Dysfibrinogenemia" }, { - "baseId": "31439", + "upstreamId": "31439", "text": "FIBRINOGEN MUNICH 1" }, { - "baseId": "31440", + "upstreamId": "31440", "text": "FIBRINOGEN DETROIT 1" }, { - "baseId": "31441", + "upstreamId": "31441", "text": "FIBRINOGEN AARHUS 1" }, { - "baseId": "31442", + "upstreamId": "31442", "text": "FIBRINOGEN KYOTO 2" }, { - "baseId": "31444", + "upstreamId": "31444", "text": "FIBRINOGEN CARACAS 2" }, { - "baseId": "31445", + "upstreamId": "31445", "text": "FIBRINOGEN LIMA" }, { - "baseId": "31446", + "upstreamId": "31446", "text": "FIBRINOGEN MARBURG" }, { - "baseId": "31450", + "upstreamId": "31450", "text": "FIBRINOGEN DUSART" }, { - "baseId": "31451", + "upstreamId": "31451", "text": "FIBRINOGEN CANTERBURY" }, { - "baseId": "31454", + "upstreamId": "31454", "text": "Hypodysfibrinogenemia, congenital" }, { - "baseId": "31455", + "upstreamId": "31455", "text": "FIBRINOGEN NIEUWEGEIN" }, { - "baseId": "31457", + "upstreamId": "31457", "text": "FIBRINOGEN KEOKUK" }, { - "baseId": "31460", + "upstreamId": "31460", "text": "Marfan syndrome, severe classic" }, { - "baseId": "31461", + "upstreamId": "31461", "text": "Marfan syndrome, mild variable" }, { - "baseId": "31473|31490|31490|51537|51554|141005|165544|197665|258816|322740|322743|322762|322768|322772|322773|322810|332236|332237|332249|332259|332260|332264|332268|332271|332279|332280|339214|339221|339222|339224|339237|339240|339263|339264|339285|339295|339296|340691|340697|340712|340719|340723|340726|340746|551267|609340|672165", + "upstreamId": "31473|31490|31490|51537|51554|141005|165544|197665|258816|322740|322743|322762|322768|322772|322773|322810|332236|332237|332249|332259|332260|332264|332268|332271|332279|332280|339214|339221|339222|339224|339237|339240|339263|339264|339285|339295|339296|340691|340697|340712|340719|340723|340726|340746|551267|609340|672165", "text": "MASS syndrome" }, { - "baseId": "31476|31484|31490|31500|44705|44724|44729|44731|44735|44736|44748|44750|44767|44768|44772|44792|44796|44797|48266|51457|51467|51468|51489|51490|51500|51504|51505|51507|51525|51526|51551|51562|51578|51582|51583|51603|51609|132464|141002|141003|141004|141007|141008|141009|141012|141014|141016|141017|171173|171177|171181|175990|175991|197581|197615|197705|197717|197811|230585|242059|242072|242080|242082|255255|258836|258887|258909|265919|322730|322731|322733|322734|322736|322737|322739|322742|322749|322752|322760|322767|322769|322781|322782|322787|322788|322792|322793|322794|322796|322805|322811|332233|332238|332243|332247|332248|332251|332252|332254|332261|332263|332265|332267|332272|332278|332283|339217|339223|339232|339241|339243|339245|339250|339265|339266|339275|339276|339277|339280|339281|339286|339287|339297|339304|340694|340714|340715|340716|340718|340720|340728|340729|340732|340736|340738|340743|340744|340745|340748|374601|464856|464940|465086|465116|487788|505654|529291|538046|539060|573321|621494|643298|842447|873702|873703|873704|873705|873706|873707|873708|873709|873710|873711|873712|873713|873714|873715|873716|873717|873718|873719|873720|873721|873722|873723|873724|873725|873726|873727|873728|873729|873730|873731|873732|873733|873734|873735|873736|873737|873738|873739|873740|873741|873742|876533|876534|876535|876536|876537", + "upstreamId": "31476|31484|31490|31500|44705|44724|44729|44731|44735|44736|44748|44750|44767|44768|44772|44792|44796|44797|48266|51457|51467|51468|51489|51490|51500|51504|51505|51507|51525|51526|51551|51562|51578|51582|51583|51603|51609|132464|141002|141003|141004|141007|141008|141009|141012|141014|141016|141017|171173|171177|171181|175990|175991|197581|197615|197705|197717|197811|230585|242059|242072|242080|242082|255255|258836|258887|258909|265919|322730|322731|322733|322734|322736|322737|322739|322742|322749|322752|322760|322767|322769|322781|322782|322787|322788|322792|322793|322794|322796|322805|322811|332233|332238|332243|332247|332248|332251|332252|332254|332261|332263|332265|332267|332272|332278|332283|339217|339223|339232|339241|339243|339245|339250|339265|339266|339275|339276|339277|339280|339281|339286|339287|339297|339304|340694|340714|340715|340716|340718|340720|340728|340729|340732|340736|340738|340743|340744|340745|340748|374601|464856|464940|465086|465116|487788|505654|529291|538046|539060|573321|621494|643298|842447|873702|873703|873704|873705|873706|873707|873708|873709|873710|873711|873712|873713|873714|873715|873716|873717|873718|873719|873720|873721|873722|873723|873724|873725|873726|873727|873728|873729|873730|873731|873732|873733|873734|873735|873736|873737|873738|873739|873740|873741|873742|876533|876534|876535|876536|876537", "text": "Ectopia lentis, isolated, autosomal dominant" }, { - "baseId": 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+ "upstreamId": 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"text": "Connective tissue disease" }, { - "baseId": "31477|31480|31481|31485|31486|31496|31501|31504", + "upstreamId": "31477|31480|31481|31485|31486|31496|31501|31504", "text": "Marfan syndrome, neonatal" }, { - "baseId": "31479|31492|32289", + "upstreamId": "31479|31492|32289", "text": "Marfan syndrome, atypical" }, { - "baseId": "31479|361136", + "upstreamId": "31479|361136", "text": "Arachnodactyly" }, { - "baseId": "31479|360977", + "upstreamId": "31479|360977", "text": "Lens subluxation" }, { - "baseId": "31479|514051", + "upstreamId": "31479|514051", "text": "High palate" }, { - "baseId": "31482", + "upstreamId": "31482", "text": "Marfan syndrome, mild" }, { - "baseId": 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+ "upstreamId": 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"text": "Acromicric dysplasia" }, { - "baseId": 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"text": "Weill-Marchesani syndrome" }, { - "baseId": 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"text": "Geleophysic dysplasia" }, { - "baseId": 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+ "upstreamId": 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"text": "Stiff skin syndrome" }, { - "baseId": "31488|31491|31499|44703|44713|44740|44752|44771|44786|48266|51453|51470|51556|51564|51577|51590|51591|51599|175979|175982|176122|178699|197590|197619|197677|197685|197690|197710|197731|197742|197755|197765|197799|197808|197817|258830|258859|258876|260073|360269|400742|409254|409288|433143|485759|487563|487564|487570|487589|487590|487591|487610|487621|487628|487632|487659|487668|487683|487690|487701|487747|487772|487775|487781|487784|487786|487816|487832|487838|487853|487854|487865|487876|487880|487897|510611|529534|567146|568887|568912|573381|609927|621485|621486|621490|621492|621496|621505|621507|621509|621513|682108|842473|904060|917199|917202|917207|917536|920499|921481|921482|965855|969182|980189", + "upstreamId": "31488|31491|31499|44703|44713|44740|44752|44771|44786|48266|51453|51470|51556|51564|51577|51590|51591|51599|175979|175982|176122|178699|197590|197619|197677|197685|197690|197710|197731|197742|197755|197765|197799|197808|197817|258830|258859|258876|260073|360269|400742|409254|409288|433143|485759|487563|487564|487570|487589|487590|487591|487610|487621|487628|487632|487659|487668|487683|487690|487701|487747|487772|487775|487781|487784|487786|487816|487832|487838|487853|487854|487865|487876|487880|487897|510611|529534|567146|568887|568912|573381|609927|621485|621486|621490|621492|621496|621505|621507|621509|621513|682108|842473|904060|917199|917202|917207|917536|920499|921481|921482|965855|969182|980189", "text": "Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections" }, { - "baseId": "31490|178506|224192|224193|224245|224248|224373|224567", + "upstreamId": "31490|178506|224192|224193|224245|224248|224373|224567", "text": "Marfanoid habitus" }, { - "baseId": "31490|48154|51537|51554|141005|165544|175984|197665|258816|276361|276365|276376|276386|277082|322740|322743|322762|322768|322772|322773|322810|332236|332237|332249|332259|332260|332264|332268|332271|332279|332280|339214|339221|339222|339224|339237|339240|339263|339264|339285|339295|339296|340691|340697|340712|340719|340723|340726|340746|353061|360979", + "upstreamId": "31490|48154|51537|51554|141005|165544|175984|197665|258816|276361|276365|276376|276386|277082|322740|322743|322762|322768|322772|322773|322810|332236|332237|332249|332259|332260|332264|332268|332271|332279|332280|339214|339221|339222|339224|339237|339240|339263|339264|339285|339295|339296|340691|340697|340712|340719|340723|340726|340746|353061|360979", "text": "Ectopia lentis" }, { - "baseId": "31490|44740|51466|51525|171178|197619|209598|258283|258907|262311|262312|262313|360231|362492|362493|362741|362742|433137|488133|488138|511551|609191|609192|609193|609194|609197|609198|609199|609200|609231|609232|609233|609234|609235|609236", + "upstreamId": "31490|44740|51466|51525|171178|197619|209598|258283|258907|262311|262312|262313|360231|362492|362493|362741|362742|433137|488133|488138|511551|609191|609192|609193|609194|609197|609198|609199|609200|609231|609232|609233|609234|609235|609236", "text": "Familial thoracic aortic aneurysm" }, { - "baseId": "31498", + "upstreamId": "31498", "text": "Weill-Marchesani syndrome 2" }, { - "baseId": "31505|44782", + "upstreamId": "31505|44782", "text": "Marfan syndrome, autosomal recessive" }, { - "baseId": "31513|31513|31514|31515|31517|31518|31519|31519|31520|31520|31521|31523|31524|48182|102584|166212|166213|169583|334001|334013|334015|334019|334021|343936|343948|343949|343954|349228|349228|349229|349230|349233|349234|350169|350171|350172|350174|350175|350178|353504|353506|353510|353514|413528|533633|575002|648220|648221|653468|852344|882260|882261|882262|882263|882264|882265|882266|882267|882268|882912|882913|929014|938760|950841|950842", + "upstreamId": "31513|31513|31514|31515|31517|31518|31519|31519|31520|31520|31521|31523|31524|48182|102584|166212|166213|169583|334001|334013|334015|334019|334021|343936|343948|343949|343954|349228|349228|349229|349230|349233|349234|350169|350171|350172|350174|350175|350178|353504|353506|353510|353514|413528|533633|575002|648220|648221|653468|852344|882260|882261|882262|882263|882264|882265|882266|882267|882268|882912|882913|929014|938760|950841|950842", "text": "Hereditary hyperferritinemia with congenital cataracts" }, { - "baseId": "31513|31519|31520|31522|31525|31526|31527|31528|166212|166213|169583|334001|334013|334015|334019|334021|343936|343948|343949|343954|349228|349228|349229|349230|349233|349234|350169|350171|350172|350174|350175|350178|353504|353506|353510|353514|413528|533633|575002|648220|648221|653468|852344|882260|882261|882262|882263|882264|882265|882266|882267|882268|882912|882913|929014|938760|950841|950842", + "upstreamId": "31513|31519|31520|31522|31525|31526|31527|31528|166212|166213|169583|334001|334013|334015|334019|334021|343936|343948|343949|343954|349228|349228|349229|349230|349233|349234|350169|350171|350172|350174|350175|350178|353504|353506|353510|353514|413528|533633|575002|648220|648221|653468|852344|882260|882261|882262|882263|882264|882265|882266|882267|882268|882912|882913|929014|938760|950841|950842", "text": "Neuroferritinopathy" }, { - "baseId": "31529|314445|314447|321045|321046|321047|321053|321067|321070|327167|327195|327205|327211|328210|868180|868181|868182|868183|868184", + "upstreamId": "31529|314445|314447|321045|321046|321047|321053|321067|321070|327167|327195|327205|327211|328210|868180|868181|868182|868183|868184", "text": "Hemochromatosis type 5" }, { - "baseId": "31530", + "upstreamId": "31530", "text": "GLUTATHIONE S-TRANSFERASE PI POLYMORPHISM, TYPE A" }, { - "baseId": "31531", + "upstreamId": "31531", "text": "GLUTATHIONE S-TRANSFERASE PI POLYMORPHISM, TYPE B" }, { - "baseId": "31532", + "upstreamId": "31532", "text": "GLUTATHIONE S-TRANSFERASE PI POLYMORPHISM, TYPE C" }, { - "baseId": "31533", + "upstreamId": "31533", "text": "FATTY ACID-BINDING PROTEIN, INTESTINAL, POLYMORPHISM OF" }, { - "baseId": "31534|538943", + "upstreamId": "31534|538943", "text": "Autoimmune lymphoproliferative syndrome, type 1b" }, { - "baseId": "31536|31537|31538|31539|31540|31541|31542|31543|31544|31545|31546|31547|31548|31552|31553|31554|31555", + "upstreamId": "31536|31537|31538|31539|31540|31541|31542|31543|31544|31545|31546|31547|31548|31552|31553|31554|31555", "text": "Autoimmune lymphoproliferative syndrome, type 1a" }, { - "baseId": "31549|31550|31551", + "upstreamId": "31549|31550|31551", "text": "SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC" }, { - "baseId": "31557|31558|31559|31560|31561|249586|249587|249588|278236|278241|278242|278244|278247|278248|278249|278254|278257|278258|278259|278265|278266|278272|278273|279281|279282|279283|279294|279297|279299|279326|279327|279445|706968|718479|718480|863151|863152|863153|863154|863155|863156|863157|863158|863159|863160|863161|863162|863163", + "upstreamId": "31557|31558|31559|31560|31561|249586|249587|249588|278236|278241|278242|278244|278247|278248|278249|278254|278257|278258|278259|278265|278266|278272|278273|279281|279282|279283|279294|279297|279299|279326|279327|279445|706968|718479|718480|863151|863152|863153|863154|863155|863156|863157|863158|863159|863160|863161|863162|863163", "text": "Factor XIII, b subunit, deficiency of" }, { - "baseId": "31562|31563|31564|31565|31566|31567|31568|31569|31570|31571|31572|31573|31574|31575|31576|31577|31578|31579|38649|38650|252445|252446|252447|252448|252450|300847|300849|300850|300857|300858|300862|300863|303782|303783|303784|303786|303789|303791|308355|308357|308358|308359|308361|308364|308376|308382|308383|308389|308400|308402|308403|308458|308462|308464|308465|308466|308467|308472|308473|552283|609016|615415|615416|615417|615418|710573|710574|722090|722092|896706|896707|896708|896709|896710|896711|896712|896713|896714|896715|896716|896717|896718|896719|896720|896721|896722|896723|896724|896725|896726|896727|896728|896729|900252|900253", + "upstreamId": "31562|31563|31564|31565|31566|31567|31568|31569|31570|31571|31572|31573|31574|31575|31576|31577|31578|31579|38649|38650|252445|252446|252447|252448|252450|300847|300849|300850|300857|300858|300862|300863|303782|303783|303784|303786|303789|303791|308355|308357|308358|308359|308361|308364|308376|308382|308383|308389|308400|308402|308403|308458|308462|308464|308465|308466|308467|308472|308473|552283|609016|615415|615416|615417|615418|710573|710574|722090|722092|896706|896707|896708|896709|896710|896711|896712|896713|896714|896715|896716|896717|896718|896719|896720|896721|896722|896723|896724|896725|896726|896727|896728|896729|900252|900253", "text": "Factor XIII subunit A deficiency" }, { - "baseId": "31571", + "upstreamId": "31571", "text": "Myocardial infarction, protection against" }, { - "baseId": "31571", + "upstreamId": "31571", "text": "Venous thrombosis, protection against" }, { - "baseId": "31581|31584|31585|31587|31589|31591|31592|31597|31598|31602|33941|33942|34152|34153|224677|260773|273573|278176|278180|278182|278184|278185|278188|278191|278192|278193|278197|278199|278200|278201|278203|278204|278205|278206|278209|278210|278211|278212|278215|278217|278220|278223|278224|279184|279185|279186|279187|279192|279193|279197|279198|279199|279203|279204|279205|279206|279207|279208|279209|279218|279222|279223|279358|279359|279360|279361|279364|279365|279369|279379|279380|279392|420987|432277|442682|513008|589722|590234|614201|614201|614202|623238|623239|623240|623241|800752|800959|818159|818160|818161|818162|818163|863112|863113|863114|863115|863116|863117|863118|863119|863120|863121|863122|863123|863124|863125|863126|863127|863128|865075|865076|865077|865078|965923", + "upstreamId": "31581|31584|31585|31587|31589|31591|31592|31597|31598|31602|33941|33942|34152|34153|224677|260773|273573|278176|278180|278182|278184|278185|278188|278191|278192|278193|278197|278199|278200|278201|278203|278204|278205|278206|278209|278210|278211|278212|278215|278217|278220|278223|278224|279184|279185|279186|279187|279192|279193|279197|279198|279199|279203|279204|279205|279206|279207|279208|279209|279218|279222|279223|279358|279359|279360|279361|279364|279365|279369|279379|279380|279392|420987|432277|442682|513008|589722|590234|614201|614201|614202|623238|623239|623240|623241|800752|800959|818159|818160|818161|818162|818163|863112|863113|863114|863115|863116|863117|863118|863119|863120|863121|863122|863123|863124|863125|863126|863127|863128|865075|865076|865077|865078|965923", "text": "Atypical hemolytic-uremic syndrome 1" }, { - "baseId": "31582|31583|31586|31590|31593|31594|31597|581999|614201|614202", + "upstreamId": "31582|31583|31586|31590|31593|31594|31597|581999|614201|614202", "text": "Factor H deficiency" }, { - "baseId": "31588|31589|31595|31596|31597|167424|273573|278176|278180|278182|278184|278185|278188|278191|278192|278193|278197|278199|278200|278201|278203|278204|278205|278206|278209|278210|278211|278212|278215|278217|278220|278223|278224|279184|279185|279186|279187|279192|279193|279197|279198|279199|279203|279204|279205|279206|279207|279208|279209|279218|279222|279223|279358|279359|279360|279361|279364|279365|279369|279379|279380|279392|442682|589722|614201|614201|614202|863112|863113|863114|863115|863116|863117|863118|863119|863120|863121|863122|863123|863124|863125|863126|863127|863128|865075|865076|865077|865078", + "upstreamId": "31588|31589|31595|31596|31597|167424|273573|278176|278180|278182|278184|278185|278188|278191|278192|278193|278197|278199|278200|278201|278203|278204|278205|278206|278209|278210|278211|278212|278215|278217|278220|278223|278224|279184|279185|279186|279187|279192|279193|279197|279198|279199|279203|279204|279205|279206|279207|279208|279209|279218|279222|279223|279358|279359|279360|279361|279364|279365|279369|279379|279380|279392|442682|589722|614201|614201|614202|863112|863113|863114|863115|863116|863117|863118|863119|863120|863121|863122|863123|863124|863125|863126|863127|863128|865075|865076|865077|865078", "text": "Age-related macular degeneration 4" }, { - "baseId": "31588|31589|31597|31599|31600|31601|273573|278176|278180|278181|278182|278184|278185|278188|278191|278192|278193|278197|278199|278200|278201|278203|278204|278205|278206|278209|278210|278211|278212|278215|278217|278220|278223|278224|279184|279185|279186|279187|279192|279193|279197|279198|279199|279203|279204|279205|279206|279207|279208|279209|279218|279222|279223|279358|279359|279360|279361|279364|279365|279369|279379|279380|279392|442682|589722|614201|614201|614202|863112|863113|863114|863115|863116|863117|863118|863119|863120|863121|863122|863123|863124|863125|863126|863127|863128|865075|865076|865077|865078|920131", + "upstreamId": "31588|31589|31597|31599|31600|31601|273573|278176|278180|278181|278182|278184|278185|278188|278191|278192|278193|278197|278199|278200|278201|278203|278204|278205|278206|278209|278210|278211|278212|278215|278217|278220|278223|278224|279184|279185|279186|279187|279192|279193|279197|279198|279199|279203|279204|279205|279206|279207|279208|279209|279218|279222|279223|279358|279359|279360|279361|279364|279365|279369|279379|279380|279392|442682|589722|614201|614201|614202|863112|863113|863114|863115|863116|863117|863118|863119|863120|863121|863122|863123|863124|863125|863126|863127|863128|865075|865076|865077|865078|920131", "text": "Basal laminar drusen" }, { - "baseId": "31589|31597|45835|79735|263997|273573|278176|278180|278182|278184|278185|278188|278191|278192|278193|278197|278199|278200|278201|278203|278204|278205|278206|278209|278210|278211|278212|278215|278217|278220|278223|278224|278226|278227|278228|278229|278231|278235|278237|278239|278243|278246|278250|278251|278252|278253|279184|279185|279186|279187|279192|279193|279197|279198|279199|279203|279204|279205|279206|279207|279208|279209|279218|279222|279223|279224|279227|279228|279245|279255|279259|279260|279261|279267|279358|279359|279360|279361|279364|279365|279369|279379|279380|279392|279395|279396|279397|279402|279406|279428|279429|279433|279440|364055|389348|442682|513500|589722|590764|614201|619976|619977|619978|696353|706967|718476|718477|718478|774429|863112|863113|863114|863115|863116|863117|863118|863119|863120|863121|863122|863123|863124|863125|863126|863127|863128|863129|863130|863131|863132|863133|863134|863135|863136|863137|863138|863139|863140|863141|863142|863143|863144|863145|863146|863147|863148|863149|863150|865075|865076|865077|865078|865079|865080", + "upstreamId": "31589|31597|45835|79735|263997|273573|278176|278180|278182|278184|278185|278188|278191|278192|278193|278197|278199|278200|278201|278203|278204|278205|278206|278209|278210|278211|278212|278215|278217|278220|278223|278224|278226|278227|278228|278229|278231|278235|278237|278239|278243|278246|278250|278251|278252|278253|279184|279185|279186|279187|279192|279193|279197|279198|279199|279203|279204|279205|279206|279207|279208|279209|279218|279222|279223|279224|279227|279228|279245|279255|279259|279260|279261|279267|279358|279359|279360|279361|279364|279365|279369|279379|279380|279392|279395|279396|279397|279402|279406|279428|279429|279433|279440|364055|389348|442682|513500|589722|590764|614201|619976|619977|619978|696353|706967|718476|718477|718478|774429|863112|863113|863114|863115|863116|863117|863118|863119|863120|863121|863122|863123|863124|863125|863126|863127|863128|863129|863130|863131|863132|863133|863134|863135|863136|863137|863138|863139|863140|863141|863142|863143|863144|863145|863146|863147|863148|863149|863150|865075|865076|865077|865078|865079|865080", "text": "CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II" }, { - "baseId": "31603|614471", + "upstreamId": "31603|614471", "text": "Complement factor d deficiency" }, { - "baseId": "31605|31606|31612|31613|31614|31615|31616|31617|49931|49932|134455|134456|134457|134458|137898|137899|137899|137901|137904|137905|137908|137910|137911|137913|137914|137915|137917|137918|137919|137920|137921|137922|137924|137931|137932|137934|205172|254790|254791|254792|254793|318811|318814|318816|318819|318821|318824|318825|318830|318832|318833|318834|318840|318841|318847|327190|327193|327194|327196|327198|327208|327213|327219|327225|327226|327226|327234|333317|333319|333321|333325|333331|333332|333334|333335|333346|333347|333352|335057|335058|335071|335081|335082|335088|335091|335092|512935|512936|512937|620464|725347|738923|738925|753682|753685|791291|791292|791293|870642|870643|870644|870645|870646|870647|870648|870649|870650|870651|870652|870653|870654|870655|870656|870657|870658|870659|870660|870661|870662|870663|870664|870665|870666|870667|870668|872299|872300|872301", + "upstreamId": "31605|31606|31612|31613|31614|31615|31616|31617|49931|49932|134455|134456|134457|134458|137898|137899|137899|137901|137904|137905|137908|137910|137911|137913|137914|137915|137917|137918|137919|137920|137921|137922|137924|137931|137932|137934|205172|254790|254791|254792|254793|318811|318814|318816|318819|318821|318824|318825|318830|318832|318833|318834|318840|318841|318847|327190|327193|327194|327196|327198|327208|327213|327219|327225|327226|327226|327234|333317|333319|333321|333325|333331|333332|333334|333335|333346|333347|333352|335057|335058|335071|335081|335082|335088|335091|335092|512935|512936|512937|620464|725347|738923|738925|753682|753685|791291|791292|791293|870642|870643|870644|870645|870646|870647|870648|870649|870650|870651|870652|870653|870654|870655|870656|870657|870658|870659|870660|870661|870662|870663|870664|870665|870666|870667|870668|872299|872300|872301", "text": "Xeroderma pigmentosum, group G" }, { - "baseId": "31607|137899|206564|327226|788874|966040", + "upstreamId": "31607|137899|206564|327226|788874|966040", "text": "Cerebrooculofacioskeletal syndrome 3" }, { - "baseId": "31608|31609|31610|31611", + "upstreamId": "31608|31609|31610|31611", "text": "Xeroderma pigmentosum group g/Cockayne syndrome" }, { - "baseId": 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+ "upstreamId": 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"text": "Xeroderma pigmentosum, group F" }, { - "baseId": 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complementation group Q" }, { - "baseId": "31619|31619|31620|70487|137892|613483", + "upstreamId": "31619|31619|31620|70487|137892|613483", "text": "XFE progeroid syndrome" }, { - "baseId": "31621|31622|31624|31625|31627|31628|137859|137867|137867|137869|259693|281793|281794|281798|281800|282412|282424|282425|282427|282429|284042|284047|284063|284070|284072|284080|284221|284229|284236|284238|284239|284240|284242|284244|284255|284275|284279|284281|284284|615785|620028|620029|620030|685111|707709|719233|774569|790037|790038|790039|790040|790041|790042|881009|881010|881011|881012|881013|881014|881015|881016|881017|881018|881019|881020|881021|881022|881023|881024|881025|881026", + "upstreamId": 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"31631|31632|75131|165621|165622|165623|165624|165625|165626|165627|424252|578655|578656", "text": "Estrogen resistance" }, { - "baseId": "31633", + "upstreamId": "31633", "text": "Hdl cholesterol, augmented response of, to hormone replacement" }, { - "baseId": "31641", + "upstreamId": "31641", "text": "Microvascular complications of diabetes 2" }, { - "baseId": "31643|31644", + "upstreamId": "31643|31644", "text": "EPOXIDE HYDROLASE 1 POLYMORPHISM" }, { - "baseId": "31647|31648|31649|31650|31651", + "upstreamId": "31647|31648|31649|31650|31651", "text": "Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic" }, { - "baseId": "31647|31648|31649|31651|31652|54420|174095|174097|174098|174099|174100|174101|174102|174103|174104|174105|174106|174107|174108|174109|174110|174112|174113|174115|174116|174117|174118|174230|174231|174232|174233|174234|174236|174237|174238|174239|174240|174241|174242|174243|174244|174245|174246|174247|174249|174250|174251|174252|174254|178179|178181|178198|178201", + "upstreamId": "31647|31648|31649|31651|31652|54420|174095|174097|174098|174099|174100|174101|174102|174103|174104|174105|174106|174107|174108|174109|174110|174112|174113|174115|174116|174117|174118|174230|174231|174232|174233|174234|174236|174237|174238|174239|174240|174241|174242|174243|174244|174245|174246|174247|174249|174250|174251|174252|174254|178179|178181|178198|178201", "text": "Tyrosine kinase inhibitor response" }, { - "baseId": "31648", + "upstreamId": "31648", "text": "Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic" }, { - "baseId": "31648", + "upstreamId": "31648", "text": "carboplatin, docetaxel, erlotinib, gemcitabine, and paclitaxel response - Efficacy" }, { - "baseId": "31648|31652|227818", + "upstreamId": "31648|31652|227818", "text": "gefitinib response - Efficacy" }, { - "baseId": "31648|31652", + "upstreamId": "31648|31652", "text": "erlotinib response - Efficacy" }, { - "baseId": "31648", + "upstreamId": "31648", "text": "Gefitinib response" }, { - "baseId": "31648", + "upstreamId": "31648", "text": "Erlotinib response" }, { - "baseId": "31652", + "upstreamId": "31652", "text": "Nonsmall cell lung cancer, resistance to tyrosine kinase inhibitor in" }, { - "baseId": 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"text": "EGFR-related lung cancer" }, { - "baseId": "31653|227748|291957|291959|291968|291978|291981|291986|291987|291995|292002|292004|292005|292007|292008|292009|292015|292017|292018|292022|292024|292025|293383|293408|293432|293435|293436|293437|293439|293440|293444|293451|293454|293456|293458|293460|293461|293462|296682|296683|296685|296688|296701|296703|296710|296718|296721|296722|296726|296727|296728|296730|296731|296736|296740|296744|296747|296750|296751|296752|296753|296755|296759|296760|296762|296764|296768|620141|620142|698334|698335|709124|709125|720707|720709|720710|720711|734402|734403|748667|764257|764258|779006|779022|889898|889899|889900|889901|889902|889903|889904|889905|889906|889907|889908|889909|889910|889911|889912|889913|889914|889915|889916|889917|889918|889919|889920|889921|889922|889923|889924|889925|889926|889927|889928|889929|891730|891731|891732|891733|891734|891735|918870", + "upstreamId": 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"31707|31708|31709|31710|31712|31713|31715|140911|140912|140913|171109|171110|171112|171113|172175|174130|174131|178593|209943|209945|209948|209949|209952|209955|221804|227844|227845|229663|240449|240451|240452|240453|240455|240457|240459|240460|240462|240463|240464|253309|253310|253312|259913|259914|306870|306871|306874|306877|306879|311049|311050|311060|311062|311065|311066|311067|316665|316668|316671|316933|316943|316947|316949|316950|316951|316967|316969|316970|316971|316975|316976|316977|316979|316982|316996|316999|317000|317006|325595|331658|331659|331662|331668|331672|331679|331683|331684|331686|331694|331695|331701|331704|333281|341907|341932|341934|341935|341942|341944|341945|341948|347270|347281|347290|347332|347335|347347|348571|348608|348613|348647|348649|348653|348656|348660|348670|353480|353481|360048|361866|370234|396357|396401|396403|396409|396684|396686|396689|396695|396702|396773|396827|396851|397002|397049|397050|397057|397059|397069|397070|397071|397081|397083|397091|397093|407547|414378|421700|421701|428921|430980|433051|433053|433055|433056|433063|433527|437737|437738|437739|437740|437741|437742|444357|444363|446888|458237|458245|458250|458254|458260|458270|458282|458284|458289|458645|458720|458776|458777|458780|458789|458792|458798|458809|458812|458846|458853|458860|458867|459158|459277|459289|459290|459295|459297|459304|472247|495390|508963|523963|523975|523980|524233|524236|524242|524244|524266|524277|524281|524282|524434|524499|524508|524509|524511|524517|524523|524525|524529|524578|524584|524585|524587|524593|540529|562579|562738|562746|562752|562755|562756|562762|562769|563226|563423|563424|563425|563427|563447|563451|563461|563469|563470|563475|563476|565329|565500|565510|565517|565519|565523|565525|568310|568482|568488|568489|568494|568495|568496|568505|609706|609709|609710|609712|609714|609718|625987|637682|637697|637698|637705|637713|651901|651977|687370|689931|767104|796221|799564|799565|799566|799567|799568|799569|799570|799571|799572|799573|799574|799575|799576|835467|835471|835474|835488|835499|852481|901099|901100|901101|901102|901103|901104|901105|901106|901107|901108|901109|901110|901111|901112|901113|901114|901115|901116|901117|901118|901119|901120|901121|901122|901123|901124|901125|901126|901127|901129|901130|901131|905029|925377|925378|925383|934547|964309|970563|970564|970565|970566|970567|970568|970569|970570|970571|970572|970573|970574|970575|970576|970577|970578|970579|970580|970581|970582|970583|970584|970585|970586|970587|970588|970589|970590|970591|970592|970593|970594|970595|970596|970597|970598|970599|970600|970601|970602|970603|970604|970605|970606|970607|970608|970609|970610|970611|970612|981653|981654|981655|981656|981657|981658|981659|981660|981661|981662", "text": "Hereditary hemorrhagic telangiectasia type 1" }, { - "baseId": 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+ "upstreamId": "31715|140913|171109|171110|171112|171113|172175|174130|174131|174685|191136|209943|209944|209945|209948|209949|209950|209955|209956|209960|221804|227845|240449|240450|240451|240452|240453|240454|240455|240458|240460|240462|253309|253310|259913|259914|266944|268906|306870|311060|316967|316970|316971|316976|361866|369766|370234|372136|396395|396396|396397|396408|396410|396413|396421|396423|396686|396689|396692|396695|396699|396702|396768|396830|396839|396844|396846|396851|397050|397054|397057|397079|397081|397086|407545|407547|407548|414377|421701|428921|433052|433055|433056|433059|433063|433529|444355|444361|458289|458780|458790|458808|458855|458862|459148|459279|459290|459295|459301|459306|502143|523957|523982|524230|524244|524248|524257|524268|524275|524497|524499|524511|524539|524587|562739|562744|562765|562767|563222|563424|563428|563445|563451|565323|565500|565503|565504|565512|565514|565516|565523|568505|568506|590609|609706|609711|637678|637679|637680|637681|637682|637683|637684|637685|637686|637687|637688|637689|637690|637691|637692|637693|637694|637695|637696|637697|637698|637699|637700|637701|637702|637703|637704|637705|637706|637707|637708|637709|637710|637711|637712|637713|637714|651825|651829|651901|651977|652099|684044|684047|687367|687368|687369|689931|689933|692574|736889|736890|767102|796223|796224|799570|799574|799576|820057|820059|820060|820061|820062|820063|820064|820065|820066|820067|820068|835467|835468|835469|835470|835471|835472|835473|835474|835475|835476|835477|835478|835479|835480|835481|835482|835483|835484|835485|835486|835487|835488|835489|835490|835491|835492|835493|835494|835495|835496|835497|835498|835499|851720|852481|901119|925372|925373|925374|925375|925376|925377|925378|925379|925380|925381|925382|925383|934538|934539|934540|934541|934542|934543|934544|934545|934546|934547|940127|940128|940923|946356|946357|946358|946359|946360|946361|946362|946363|946364|946365|946366|946367|946368|946369|946370|946371|946372|946373|955683|955684|955685|955686|955687|955688|955689|959910|959911", "text": "Hereditary hemorrhagic telangiectasia" }, { - "baseId": "31727|363534|419830|439678|439679|439680|439681|439682|439683|439684|439685|439686", + "upstreamId": "31727|363534|419830|439678|439679|439680|439681|439682|439683|439684|439685|439686", "text": "Metastatic pancreatic neuroendocrine tumours" }, { - "baseId": "31732", + "upstreamId": "31732", "text": "Lipoma, somatic" }, { - "baseId": "31733|31734", + "upstreamId": "31733|31734", "text": "Angiofibroma, somatic" }, { - "baseId": "31737", + "upstreamId": "31737", "text": "Adenoma of the adrenal gland" }, { - "baseId": "31750|31751|31752|31753|31754|576085|609423|792677|799214|799215|799216|799217|799218|981320|981321|981322", + "upstreamId": "31750|31751|31752|31753|31754|576085|609423|792677|799214|799215|799216|799217|799218|981320|981321|981322", "text": "Elliptocytosis 1" }, { - "baseId": "31755|31756|31757", + "upstreamId": "31755|31756|31757", "text": "Glutaric acidemia IIB" }, { - "baseId": 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+ "upstreamId": "31758|31759|31760|31761|31762|31763|31764|31769|31770|31771|31772|38645|48909|52751|52752|52753|52754|52755|53059|176338|176460|176596|176775|176776|176777|176780|176781|176782|176783|176785|176785|176786|176788|176789|176790|178200|178208|178209|178257|178268|190789|192634|209906|209907|209911|209918|209918|209919|209925|209928|209931|209933|209939|209941|231309|231406|240166|240167|267658|303321|303323|303330|303340|303342|303348|303349|303350|303355|303357|303358|303359|306672|306679|306680|306689|306696|306703|306704|306707|306715|306716|306717|306722|306729|306742|306752|306756|311559|311563|311572|311574|311575|311577|311578|311580|311588|311589|311590|311591|311596|311597|311598|311602|311720|311721|311722|311723|311725|311727|311730|311734|369271|369272|369953|369955|395238|395902|396128|396411|396415|407257|444157|444158|456894|456896|456901|456907|457388|457392|457398|457578|457582|457913|457915|493689|494051|496484|497843|497857|501792|501795|502495|514560|522277|522812|522812|523047|523055|523060|523061|523242|523247|523369|536740|561743|561746|561748|562141|562143|564405|564406|567112|567122|576125|576125|636324|636325|636326|636327|651623|651696|651765|654496|655801|663012|683927|683928|683930|683931|683933|685225|687103|687105|687107|687108|819913|819914|819915|833819|833820|833821|833822|833823|833824|833825|833826|833827|833828|833829|851654|851656|852102|852376|859619|898343|898344|898345|898346|898347|898348|898349|898350|898351|898352|898353|898354|898355|898356|898357|898358|898359|898360|898361|898362|900388|900389|900390|900391|900392|924901|924902|933990|940882|940883|945754|945755|955211|955212|955213|960637|964665|975796|983573", "text": "Supravalvar aortic stenosis" }, { - "baseId": "31765|31766|31767|31773|31774|31775|31776|34304|52752|52753|176785|192634|198648|209911|209918|209918|209919|209939|231309|267658|303321|303323|303330|303348|303349|303350|303355|303357|303358|306672|306679|306680|306696|306703|306704|306707|306715|306716|306722|306742|311563|311574|311578|311580|311588|311589|311590|311591|311597|311598|311602|311720|311721|311722|311723|311725|311727|311734|369271|396128|407257|444157|444158|457915|522812|561746|562141|576125|654496|685225|687103|859619|898343|898344|898345|898346|898347|898348|898349|898350|898351|898352|898353|898354|898355|898356|898357|898358|898359|898360|898361|898362|900388|900389|900390|900391|900392", + "upstreamId": "31765|31766|31767|31773|31774|31775|31776|34304|52752|52753|176785|192634|198648|209911|209918|209918|209919|209939|231309|267658|303321|303323|303330|303348|303349|303350|303355|303357|303358|306672|306679|306680|306696|306703|306704|306707|306715|306716|306722|306742|311563|311574|311578|311580|311588|311589|311590|311591|311597|311598|311602|311720|311721|311722|311723|311725|311727|311734|369271|396128|407257|444157|444158|457915|522812|561746|562141|576125|654496|685225|687103|859619|898343|898344|898345|898346|898347|898348|898349|898350|898351|898352|898353|898354|898355|898356|898357|898358|898359|898360|898361|898362|900388|900389|900390|900391|900392", "text": "Cutis laxa, autosomal dominant 1" }, { - "baseId": "31777|31777|31778|31779|31779|31782|31784|31784|140903|140904|140904|140905|178750|205023|243853|243855|243865|243868|243869|243869|245163|245163|257294|257296|257297|257299|260218|410724|446203|470271|471345|471349|507235|507640|533462|533505|533967|533971|533973|533974|533978|571110|571125|571127|573440|573441|575069|575070|575071|648551|648552|648553|648554|648555|648556|648557|648558|648559|648560|648561|648562|648563|648564|648565|652970|653528|653529|656614|684860|689177|694523|791965|791966|800165|821298|848186|848187|848188|848189|848190|848191|848192|848193|852896|929134|929135|929136|929137|938897|938898|938899|938900|938901|940496|950968|950969|950970|950971|950972|950973|950974|950975|958769|958770", + "upstreamId": "31777|31777|31778|31779|31779|31782|31784|31784|140903|140904|140904|140905|178750|205023|243853|243855|243865|243868|243869|243869|245163|245163|257294|257296|257297|257299|260218|410724|446203|470271|471345|471349|507235|507640|533462|533505|533967|533971|533973|533974|533978|571110|571125|571127|573440|573441|575069|575070|575071|648551|648552|648553|648554|648555|648556|648557|648558|648559|648560|648561|648562|648563|648564|648565|652970|653528|653529|656614|684860|689177|694523|791965|791966|800165|821298|848186|848187|848188|848189|848190|848191|848192|848193|852896|929134|929135|929136|929137|938897|938898|938899|938900|938901|940496|950968|950969|950970|950971|950972|950973|950974|950975|958769|958770", "text": "Cyclical neutropenia" }, { - "baseId": "31777|31779|31782|31782|31783|31784|31784|31785|31787|132671|140903|140904|140905|205024|243853|243855|243865|243868|243869|243869|245163|257294|257296|257297|257299|260218|410724|446203|470271|471345|471349|507235|507640|533462|533505|533967|533971|533973|533974|533978|571110|571125|571127|573440|573441|575069|575070|575071|648551|648552|648553|648554|648555|648556|648557|648558|648559|648560|648561|648562|648563|648564|648565|652970|653528|653529|656614|684860|689177|694523|800165|821298|848186|848187|848188|848189|848190|848191|848192|848193|852896|929134|929135|929136|929137|938897|938898|938899|938900|938901|940496|950968|950969|950970|950971|950972|950973|950974|950975|958769|958770|965629|969615", + "upstreamId": "31777|31779|31782|31782|31783|31784|31784|31785|31787|132671|140903|140904|140905|205024|243853|243855|243865|243868|243869|243869|245163|257294|257296|257297|257299|260218|410724|446203|470271|471345|471349|507235|507640|533462|533505|533967|533971|533973|533974|533978|571110|571125|571127|573440|573441|575069|575070|575071|648551|648552|648553|648554|648555|648556|648557|648558|648559|648560|648561|648562|648563|648564|648565|652970|653528|653529|656614|684860|689177|694523|800165|821298|848186|848187|848188|848189|848190|848191|848192|848193|852896|929134|929135|929136|929137|938897|938898|938899|938900|938901|940496|950968|950969|950970|950971|950972|950973|950974|950975|958769|958770|965629|969615", "text": "Neutropenia, severe congenital 1, autosomal dominant" }, { - "baseId": "31788|31790|38481|53814|135065|141945|244249|276934|276937|276938|276943|276944|277211|277215|277216|277906|277907|277912|277913|277914|278013|278014|278015|278016|278027|353066|361263|539028|946956", + "upstreamId": "31788|31790|38481|53814|135065|141945|244249|276934|276937|276938|276943|276944|277211|277215|277216|277906|277907|277912|277913|277914|278013|278014|278015|278016|278027|353066|361263|539028|946956", "text": "Congenital hypomyelinating neuropathy 1, autosomal recessive" }, { - "baseId": "31789|31791|49429|49430|49431|221981|244557|244559|244560|253796|310600|310603|310604|315774|315775|315776|315779|315780|321852|321857|322507|322508|322510|322513|322519|322521|460793|539028|626198|866038|866039|866040|866041|866042|866043", + "upstreamId": "31789|31791|49429|49430|49431|221981|244557|244559|244560|253796|310600|310603|310604|315774|315775|315776|315779|315780|321852|321857|322507|322508|322510|322513|322519|322521|460793|539028|626198|866038|866039|866040|866041|866042|866043", "text": "Charcot-Marie-Tooth disease, demyelinating, type 1d" }, { - "baseId": "31791|31792", + "upstreamId": "31791|31792", "text": "Dejerine-sottas neuropathy, autosomal dominant" }, { - "baseId": "31793|31794|31795|31796|31798|31799|31800|70601|70602|70603|70604|70605|70606|70607|70608|70609|70610|70611|70612|70613|70614|70615|70616|70617|70618|70619|70620|70621|70622|70623|70624|70625|70626|70627|70628|70629|70630|70631|70632|70633|70634|70635|70636|70637|70638|70639|70640|70641|70642|70643|70644|70645|70646|70647|70648|301442|301443|301444|301449|301451|301452|301453|301479|304686|304694|304699|304700|304702|309309|309310|309313|309321|309330|309331|309333|309335|309345|309346|309353|309357|309467|309470|309474|309476|309477|309482|309485|309486|370663|623296|699735|699736|710694|710695|722231|722232|790671|792765|897214|897215|897216|897217|897218|897219|897220|897221|897222|897223|897224|897225|897226|897227|897228|897229|897230|897231|897232|900299|900300|900301|900302|900303", + "upstreamId": "31793|31794|31795|31796|31798|31799|31800|70601|70602|70603|70604|70605|70606|70607|70608|70609|70610|70611|70612|70613|70614|70615|70616|70617|70618|70619|70620|70621|70622|70623|70624|70625|70626|70627|70628|70629|70630|70631|70632|70633|70634|70635|70636|70637|70638|70639|70640|70641|70642|70643|70644|70645|70646|70647|70648|301442|301443|301444|301449|301451|301452|301453|301479|304686|304694|304699|304700|304702|309309|309310|309313|309321|309330|309331|309333|309335|309345|309346|309353|309357|309467|309470|309474|309476|309477|309482|309485|309486|370663|623296|699735|699736|710694|710695|722231|722232|790671|792765|897214|897215|897216|897217|897218|897219|897220|897221|897222|897223|897224|897225|897226|897227|897228|897229|897230|897231|897232|900299|900300|900301|900302|900303", "text": "Congenital secretory diarrhea, chloride type" }, { - "baseId": "31802|31803|38640|102921|102922|102923|196211|363960|363960|454675|454745|454768|454771|455167|508799|512901|512902|520794|521089|521203|521205|521263|521295|521298|559960|564805|564816|564872|622347|633510|633522|633546|633547|633548|633549|633550|633551|798553|920206|961603|961604", + "upstreamId": "31802|31803|38640|102921|102922|102923|196211|363960|363960|454675|454745|454768|454771|455167|508799|512901|512902|520794|521089|521203|521205|521263|521295|521298|559960|564805|564816|564872|622347|633510|633522|633546|633547|633548|633549|633550|633551|798553|920206|961603|961604", "text": "Parkinsonism-dystonia, infantile, 1" }, { - "baseId": "31804", + "upstreamId": "31804", "text": "Blepharospasm" }, { - "baseId": "31805|31808", + "upstreamId": "31805|31808", "text": "Attention deficit-hyperactivity disorder, susceptibility to" }, { - "baseId": "31806", + "upstreamId": "31806", "text": "Autonomic nervous system dysfunction" }, { - "baseId": "31807", + "upstreamId": "31807", "text": "DOPAMINE RECEPTOR D4 POLYMORPHISM" }, { - "baseId": "31809", + "upstreamId": "31809", "text": "Essential tremor, susceptibility to" }, { - "baseId": "31809|288123|288867|288871|288877|291812|291911|291912|291920|291923|291926|887702|887703", + "upstreamId": "31809|288123|288867|288871|288877|291812|291911|291912|291920|291923|291926|887702|887703", "text": "Hereditary essential tremor 1" }, { - "baseId": "31811", + "upstreamId": "31811", "text": "Dna topoisomerase II, resistance to inhibition of, by amsacrine" }, { - "baseId": "31813", + "upstreamId": "31813", "text": "DNA topoisomerase I, camptothecin-resistant" }, { - "baseId": "31814|31815", + "upstreamId": "31814|31815", "text": "DNA ligase I deficiency" }, { - "baseId": "31816|31817|227406|237162|583130|626277", + "upstreamId": "31816|31817|227406|237162|583130|626277", "text": "Cerebrooculofacioskeletal syndrome 4" }, { - "baseId": "31818|31819|31821|31822|31823|31827|31828|31829|31830|31831|31832|31832|137834|137836|137837|137838|137838|137839|137840|137841|137843|137844|137846|137853|137856|257141|257142|257144|257147|257148|259254|333807|333809|333810|333811|333816|333817|343771|343773|343780|343782|343784|343785|343786|349074|349076|349077|349077|349079|349083|349085|349974|349976|349977|349980|349982|349983|349984|349985|349988|349991|349996|349997|349998|350001|350005|389209|537335|615829|615830|615846|620642|620643|620644|620907|728270|731290|757111|757117|772746|772747|779918|779923|786226|791939|793797|882119|882120|882121|882122|882123|882124|882125|882126|882127|882128|882129|882130|882131|882132|882133|882134|882135|882136|882137|882138|882139|882140|882141|882142|882143|882144|882145|882146|882147|882148|882149|882906|882907|882908", + "upstreamId": "31818|31819|31821|31822|31823|31827|31828|31829|31830|31831|31832|31832|137834|137836|137837|137838|137838|137839|137840|137841|137843|137844|137846|137853|137856|257141|257142|257144|257147|257148|259254|333807|333809|333810|333811|333816|333817|343771|343773|343780|343782|343784|343785|343786|349074|349076|349077|349077|349079|349083|349085|349974|349976|349977|349980|349982|349983|349984|349985|349988|349991|349996|349997|349998|350001|350005|389209|537335|615829|615830|615846|620642|620643|620644|620907|728270|731290|757111|757117|772746|772747|779918|779923|786226|791939|793797|882119|882120|882121|882122|882123|882124|882125|882126|882127|882128|882129|882130|882131|882132|882133|882134|882135|882136|882137|882138|882139|882140|882141|882142|882143|882144|882145|882146|882147|882148|882149|882906|882907|882908", "text": "Xeroderma pigmentosum, group D" }, { - "baseId": "31818|31820|31823|31824|31825|31831|31831|31832|137838|137838|214806|349077|389209", + "upstreamId": "31818|31820|31823|31824|31825|31831|31831|31832|137838|137838|214806|349077|389209", "text": "Trichothiodystrophy 1, photosensitive" }, { - "baseId": "31826|31827|31831|31831|31832|137838|137855|349077|550640|970421", + "upstreamId": "31826|31827|31831|31831|31832|137838|137855|349077|550640|970421", "text": "Cerebrooculofacioskeletal syndrome 2" }, { - "baseId": "31831|622465", + "upstreamId": "31831|622465", "text": "Trichothiodystrophy" }, { - "baseId": "31831", + "upstreamId": "31831", "text": "ERCC2-related conditions" }, { - "baseId": "31833", + "upstreamId": "31833", "text": "Ventricular fibrillation, paroxysmal familial, 2" }, { - "baseId": "31834|31835|31836|31838|97384|97385|178310|310625|321902|321910|321912|321915|322602|322609|322610|420435|525555|737571|790977|866100|925910", + "upstreamId": "31834|31835|31836|31838|97384|97385|178310|310625|321902|321910|321912|321915|322602|322609|322610|420435|525555|737571|790977|866100|925910", "text": "Hyperphenylalaninemia, BH4-deficient, D" }, { - "baseId": "31839|31840|31841|31842|31843|31844|31845|31846|31847|134341|134342|255858|255859|326238|326242|326247|326265|326275|326281|326286|326287|326293|335981|335990|335993|335997|335999|336006|336008|336012|336013|336015|336022|336023|336025|336028|336033|336034|336036|336037|342297|342301|342304|342305|342307|342308|342311|342312|342315|343894|343899|343900|343901|343902|343906|343909|343914|343916|353355|703795|726776|875915|875916|875917|875918|875919|875920|875921|875922|875923|875924|875925|875926|875927|875928|875929|875930|875931|875932|875933|875934|876719|876720", + "upstreamId": "31839|31840|31841|31842|31843|31844|31845|31846|31847|134341|134342|255858|255859|326238|326242|326247|326265|326275|326281|326286|326287|326293|335981|335990|335993|335997|335999|336006|336008|336012|336013|336015|336022|336023|336025|336028|336033|336034|336036|336037|342297|342301|342304|342305|342307|342308|342311|342312|342315|343894|343899|343900|343901|343902|343906|343909|343914|343916|353355|703795|726776|875915|875916|875917|875918|875919|875920|875921|875922|875923|875924|875925|875926|875927|875928|875929|875930|875931|875932|875933|875934|876719|876720", "text": "Miller syndrome" }, { - "baseId": "31848", + "upstreamId": "31848", "text": "Benzene toxicity, susceptibility to" }, { - "baseId": "31848", + "upstreamId": "31848", "text": "Leukemia, post-chemotherapy, susceptibility to" }, { - "baseId": "31848", + "upstreamId": "31848", "text": "Breast cancer, post-chemotherapy poor survival in" }, { - "baseId": "31848", + "upstreamId": "31848", "text": "Alkylating Agents, anthracyclines and related substances, fluorouracil, and Platinum compounds response - Efficacy" }, { - "baseId": "31849|31850|31851|31852|31853|31854|31855|31856|31857|44673|44674|44675|44676|44677|44678|53444|53445|53446|53450|53451|53454|53455|53456|53457|53459|53460|53462|53463|53464|53465|53467|53469|53470|53471|53472|53473|53474|53475|53476|53477|53479|53480|53481|53482|53483|53484|53485|53486|53488|53489|53490|53491|53493|53495|53496|53497|53498|140863|140867|140868|140869|165536|171194|176526|176527|176529|176531|176532|176533|176534|176535|176536|176541|176664|176665|176667|176669|176671|176672|176673|176674|176676|176677|176678|176679|178729|186567|186568|186572|186574|188894|189986|189989|189993|189994|197966|197968|197969|197973|197974|197975|197976|197977|197979|197980|197984|197986|197990|197995|197998|198000|198001|198003|198005|198006|198007|198008|198009|215553|224539|224541|230862|230864|230865|230866|230868|230870|245257|245259|247150|256651|259026|259032|259033|259038|259043|264903|331153|331163|331167|331172|331175|331178|331180|331181|331187|331190|331193|331197|331200|331208|331212|331214|331215|341417|341421|341425|341427|341439|341452|341470|341473|341479|341483|341489|341490|341493|346908|346911|346912|346924|346928|346937|346939|346946|346956|346966|346967|348176|348180|348183|348188|348190|348194|348197|348200|348210|348217|348223|348224|348230|375884|375890|376942|376943|378958|378962|378964|378971|378974|402715|402720|402763|402769|402779|402783|402787|403248|403252|403258|403282|403284|403295|404835|410342|410344|410345|410349|410350|410351|410353|410358|410359|410360|415598|445956|445957|467956|467958|468882|468891|468900|468902|468905|468915|468916|469285|469286|469299|469302|469310|469313|469314|469717|469718|469725|469729|469734|469736|487932|506545|507339|507348|510783|510788|510789|511137|532221|532226|532228|532230|532234|532258|532321|532323|532325|532334|532336|532343|532666|532668|532679|532717|536966|570105|570110|571885|571888|571889|571895|571896|571898|571908|572617|572620|572621|572622|574729|574731|574733|574735|574737|576268|576269|610127|610128|618873|618874|647161|647164|647165|647166|647167|647168|647169|647170|647171|647172|647173|647174|647175|647176|647177|647178|647179|647180|647181|647182|653552|654842|684753|688905|688907|727703|772120|772121|788274|797666|821186|821187|846780|846781|846782|846783|846784|846785|846786|846787|846788|846789|846790|846791|846792|846793|846794|846795|846796|846797|846798|846799|846800|846801|846802|846803|846804|851771|852935|879140|879141|879142|879143|879144|879145|879146|879147|879148|879149|879150|879151|879152|879153|879154|879155|879156|879157|879158|879159|879160|879161|879162|880652|880653|904021|914429|914551|914571|914572|914607|916604|918429|919793|919794|928683|928684|928685|928686|928687|928688|928689|938410|938411|938412|938413|938414|938415|950496|950497|950498|950499|950500|958455|958456|958457|960264|961886|965745", + "upstreamId": 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"text": "Arrhythmogenic right ventricular cardiomyopathy, type 10" }, { - "baseId": "31851|198007|572622", + "upstreamId": "31851|198007|572622", "text": "Arrhythmogenic right ventricular dysplasia/cardiomyopathy, type 10" }, { - "baseId": "31857|186568|198007|230865|404835|410357", + "upstreamId": "31857|186568|198007|230865|404835|410357", "text": "Dilated cardiomyopathy 1BB" }, { - "baseId": "31858|94243|94244|94245|94246|94247|94248|486662", + "upstreamId": "31858|94243|94244|94245|94246|94247|94248|486662", "text": "Palmoplantar keratoderma i, striate, focal, or diffuse" }, { - "baseId": "31859|31860|31861|31862|31863|31863|31864|31864|31865|31865|31866|31867|31868|31869|31870|31871|31872|31873|31873|31874|44665|44665|44666|44667|48317|48317|53409|53410|53410|53411|53412|53413|53414|53419|53419|53420|53421|53421|53422|53422|53423|53423|53423|53425|53425|53426|53427|53428|53429|53429|53430|53432|53432|53433|53433|53434|53435|53435|53437|53438|53438|53439|53440|53440|53441|53441|53442|71446|77284|77285|77286|77286|77290|77293|77294|77295|77299|77299|77305|77308|77309|77311|77316|77316|77320|77320|140780|173492|173494|173494|173630|173631|173631|173632|173633|173633|173735|178397|190384|190384|198108|198111|198112|198113|198114|198116|198121|198123|198124|198127|198128|198130|198130|198131|198132|198135|224252|228913|228914|228916|228917|228919|228920|228921|228922|228923|228924|238659|238660|238661|238662|238663|238664|238665|238666|258239|258242|258243|267704|267704|269244|269334|269574|270200|273357|274199|274251|284791|284792|284793|285474|285481|285482|287689|287699|287976|353560|366383|366437|366441|367018|367018|392363|392367|392368|392379|392391|392477|392479|392485|392488|392581|392592|392708|392712|392716|392719|392725|392729|405627|405629|405630|405631|405632|405634|443166|443167|450393|450395|450652|450654|450655|450663|450666|450677|450745|450750|450759|481123|486932|489161|489280|489771|490042|491451|491907|499542|499777|499780|500012|500018|513253|513411|517732|517741|517743|517835|517838|517839|517846|517847|517849|517853|538929|557886|557888|557890|557892|557941|557943|557945|557947|557949|558627|559127|559129|559131|560952|560960|560964|560984|587482|609183|614882|629488|629489|629490|629491|629492|629493|629494|629495|629496|629497|629498|629499|629500|629501|629502|629503|650939|655421|683487|733179|762954|762956|774706|781187|781188|790200|792962|802131|819126|819127|819128|825765|825766|825767|825768|825769|825770|825771|825772|825773|825774|825775|825776|825777|825778|825779|825780|825781|825782|825783|825784|825785|825786|825787|825788|850884|883802|883803|883804|883805|883806|883807|883808|883809|883810|883811|887277|918740|922584|922585|922586|922587|922588|922589|922590|931159|931160|931161|940696|940697|940698|942617|942618|942619|942620|942621|942622|942623|942624|942625|942626|952949|952950|952951", + "upstreamId": "31859|31860|31861|31862|31863|31863|31864|31864|31865|31865|31866|31867|31868|31869|31870|31871|31872|31873|31873|31874|44665|44665|44666|44667|48317|48317|53409|53410|53410|53411|53412|53413|53414|53419|53419|53420|53421|53421|53422|53422|53423|53423|53423|53425|53425|53426|53427|53428|53429|53429|53430|53432|53432|53433|53433|53434|53435|53435|53437|53438|53438|53439|53440|53440|53441|53441|53442|71446|77284|77285|77286|77286|77290|77293|77294|77295|77299|77299|77305|77308|77309|77311|77316|77316|77320|77320|140780|173492|173494|173494|173630|173631|173631|173632|173633|173633|173735|178397|190384|190384|198108|198111|198112|198113|198114|198116|198121|198123|198124|198127|198128|198130|198130|198131|198132|198135|224252|228913|228914|228916|228917|228919|228920|228921|228922|228923|228924|238659|238660|238661|238662|238663|238664|238665|238666|258239|258242|258243|267704|267704|269244|269334|269574|270200|273357|274199|274251|284791|284792|284793|285474|285481|285482|287689|287699|287976|353560|366383|366437|366441|367018|367018|392363|392367|392368|392379|392391|392477|392479|392485|392488|392581|392592|392708|392712|392716|392719|392725|392729|405627|405629|405630|405631|405632|405634|443166|443167|450393|450395|450652|450654|450655|450663|450666|450677|450745|450750|450759|481123|486932|489161|489280|489771|490042|491451|491907|499542|499777|499780|500012|500018|513253|513411|517732|517741|517743|517835|517838|517839|517846|517847|517849|517853|538929|557886|557888|557890|557892|557941|557943|557945|557947|557949|558627|559127|559129|559131|560952|560960|560964|560984|587482|609183|614882|629488|629489|629490|629491|629492|629493|629494|629495|629496|629497|629498|629499|629500|629501|629502|629503|650939|655421|683487|733179|762954|762956|774706|781187|781188|790200|792962|802131|819126|819127|819128|825765|825766|825767|825768|825769|825770|825771|825772|825773|825774|825775|825776|825777|825778|825779|825780|825781|825782|825783|825784|825785|825786|825787|825788|850884|883802|883803|883804|883805|883806|883807|883808|883809|883810|883811|887277|918740|922584|922585|922586|922587|922588|922589|922590|931159|931160|931161|940696|940697|940698|942617|942618|942619|942620|942621|942622|942623|942624|942625|942626|952949|952950|952951", "text": "Myofibrillar myopathy 1" }, { - "baseId": "31859|31863|44665|44666|44667|53409|53410|53411|53412|53419|53421|53422|53423|53423|53425|53429|53430|53432|53433|53438|53439|53440|53441|77320|173494|173631|190384|198108|267704|284791|284792|285474|285481|285482|287689|287699|287976|443167|481123|609294|883802|883803|883804|883805|883806|883807|883808|883809|883810|883811|887277", + "upstreamId": "31859|31863|44665|44666|44667|53409|53410|53411|53412|53419|53421|53422|53423|53423|53425|53429|53430|53432|53433|53438|53439|53440|53441|77320|173494|173631|190384|198108|267704|284791|284792|285474|285481|285482|287689|287699|287976|443167|481123|609294|883802|883803|883804|883805|883806|883807|883808|883809|883810|883811|887277", "text": "Dilated cardiomyopathy 1I" }, { - "baseId": "31863|31864|31865|31873|31874|44665|48317|53410|53411|53413|53414|53419|53420|53421|53422|53423|53423|53425|53426|53428|53429|53432|53433|53434|53435|53437|53438|53440|53441|53442|77284|77286|77290|77294|77295|77299|77305|77309|77311|77316|77320|140780|173492|173494|173630|173631|173633|173735|190384|198111|198112|198113|198114|198116|198121|198123|198124|198127|198128|198130|198131|198132|198135|224252|228913|228914|228916|228917|228919|228920|228921|228922|228923|228924|238659|238660|238661|238662|238663|238664|238665|238666|258239|258242|258243|267704|269244|269334|269574|270200|273357|274199|274251|366383|366437|366441|367018|392363|392367|392368|392379|392391|392479|392485|392488|392581|392592|392708|392712|392716|392719|392725|392729|405627|405629|405630|405631|405632|405634|443166|450393|450395|450652|450654|450655|450663|450666|450677|450745|450750|450759|481123|486932|489161|489280|489771|490042|491451|491907|499542|499777|499780|500012|500018|517732|517741|517743|517835|517838|517839|517846|517847|517849|517853|557886|557888|557890|557892|557941|557943|557945|557947|557949|558627|559127|559129|559131|560952|560960|560964|560984|587482|614882|629488|629489|629490|629491|629492|629493|629494|629495|629496|629497|629498|629499|629500|629501|629502|629503|650939|655421|683487|733179|762954|762956|774706|781187|781188|792962|819126|819127|819128|825765|825766|825767|825768|825769|825770|825771|825772|825773|825774|825775|825776|825777|825778|825779|825780|825781|825782|825783|825784|825785|825786|825787|825788|850884|922584|922585|922586|922587|922588|922589|922590|931159|931160|931161|940696|940697|940698|942617|942618|942619|942620|942621|942622|942623|942624|942625|942626|952949|952950|952951", + "upstreamId": "31863|31864|31865|31873|31874|44665|48317|53410|53411|53413|53414|53419|53420|53421|53422|53423|53423|53425|53426|53428|53429|53432|53433|53434|53435|53437|53438|53440|53441|53442|77284|77286|77290|77294|77295|77299|77305|77309|77311|77316|77320|140780|173492|173494|173630|173631|173633|173735|190384|198111|198112|198113|198114|198116|198121|198123|198124|198127|198128|198130|198131|198132|198135|224252|228913|228914|228916|228917|228919|228920|228921|228922|228923|228924|238659|238660|238661|238662|238663|238664|238665|238666|258239|258242|258243|267704|269244|269334|269574|270200|273357|274199|274251|366383|366437|366441|367018|392363|392367|392368|392379|392391|392479|392485|392488|392581|392592|392708|392712|392716|392719|392725|392729|405627|405629|405630|405631|405632|405634|443166|450393|450395|450652|450654|450655|450663|450666|450677|450745|450750|450759|481123|486932|489161|489280|489771|490042|491451|491907|499542|499777|499780|500012|500018|517732|517741|517743|517835|517838|517839|517846|517847|517849|517853|557886|557888|557890|557892|557941|557943|557945|557947|557949|558627|559127|559129|559131|560952|560960|560964|560984|587482|614882|629488|629489|629490|629491|629492|629493|629494|629495|629496|629497|629498|629499|629500|629501|629502|629503|650939|655421|683487|733179|762954|762956|774706|781187|781188|792962|819126|819127|819128|825765|825766|825767|825768|825769|825770|825771|825772|825773|825774|825775|825776|825777|825778|825779|825780|825781|825782|825783|825784|825785|825786|825787|825788|850884|922584|922585|922586|922587|922588|922589|922590|931159|931160|931161|940696|940697|940698|942617|942618|942619|942620|942621|942622|942623|942624|942625|942626|952949|952950|952951", "text": "Muscular dystrophy, limb-girdle, type 2R" }, { - "baseId": "31863|31874|44665|44666|44667|53409|53410|53412|53419|53421|53422|53423|53423|53425|53429|53430|53432|53433|53438|53439|53441|77320|173494|173631|190384|198108|267704|284791|284792|285474|285481|285482|287689|287699|287976|443167|883802|883803|883804|883805|883806|883807|883808|883809|883810|883811|887277", + "upstreamId": "31863|31874|44665|44666|44667|53409|53410|53412|53419|53421|53422|53423|53423|53425|53429|53430|53432|53433|53438|53439|53441|77320|173494|173631|190384|198108|267704|284791|284792|285474|285481|285482|287689|287699|287976|443167|883802|883803|883804|883805|883806|883807|883808|883809|883810|883811|887277", "text": "Neurogenic scapuloperoneal syndrome, Kaeser type" }, { - "baseId": "31875|31885|54106|173844|197036|444013|679437|919059|919060|919061", + "upstreamId": "31875|31885|54106|173844|197036|444013|679437|919059|919060|919061", "text": "Keratosis palmoplantaris striata II" }, { - "baseId": 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"text": "Dilated cardiomyopathy with woolly hair and keratoderma" }, { - "baseId": 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"text": "Arrhythmogenic right ventricular dysplasia 8" }, { - "baseId": 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+ "upstreamId": 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"text": "Skin fragility-woolly hair-palmoplantar keratoderma syndrome" }, { - "baseId": 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+ "upstreamId": 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"text": "Lethal acantholytic epidermolysis bullosa" }, { - "baseId": "31885|181469|360831|513967|679865", + "upstreamId": "31885|181469|360831|513967|679865", "text": "Right ventricular cardiomyopathy" }, { - "baseId": 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+ "upstreamId": "31887|31889|44668|44669|44670|44671|55323|55325|55327|55328|55330|55331|55334|55335|55336|55337|55338|55340|55343|55344|55346|55347|55348|55349|55351|55352|55353|55354|55355|55356|55365|55367|55368|55370|83268|140861|165535|171192|171193|172182|176513|176515|176516|176517|176518|176519|176520|176521|176523|176651|176653|176654|176658|176659|178725|178726|189979|189980|189982|189983|189984|197929|197930|197935|197936|197937|197938|197939|197941|197947|197950|197952|197957|197959|197961|197962|222749|224528|230826|230827|230831|230832|236813|236814|236815|243041|243042|243043|256648|259014|259017|259019|259022|260544|331066|331068|331074|331080|331089|331096|331100|331105|331107|341317|341319|341323|341325|341329|341341|341342|341345|341350|341351|341353|346856|346860|346869|346873|348098|348102|348103|348106|348122|348133|348136|348140|348142|360336|360347|360486|361032|375874|378950|378951|402660|402666|402668|402679|402727|402731|402733|402734|403184|403189|403195|403202|403208|403212|403237|403238|403239|410335|410336|410338|419290|422216|422217|426267|426268|467912|467915|467916|467926|467934|467940|467941|468833|468844|468862|468867|468869|469224|469243|469245|469247|469251|469684|469685|469687|469690|469693|488140|488141|495482|508903|508904|510762|510763|510765|510768|510769|513753|532140|532191|532195|532198|532203|532205|532208|532210|532224|532227|532235|532247|532251|532254|532286|532288|532290|532294|532297|532299|532302|532305|532385|532623|532625|532629|532632|532641|570082|570085|570086|571862|571863|571865|571867|571869|571872|571875|572597|572598|572605|574718|574720|574722|574723|583129|615146|618853|618858|621612|647134|647135|647136|647137|647138|647139|647140|647141|647142|647143|647144|647145|647146|647147|647148|652889|653395|688897|690189|694260|727687|756423|772111|785882|785884|797663|821185|821199|846745|846746|846747|846748|846749|846750|846751|846752|846753|846754|846755|846756|846757|846758|846759|846760|846761|846762|846763|852933|860467|879085|879086|879087|879088|879089|879090|879091|879092|879093|879094|879095|879096|879097|879098|879099|879100|879101|879102|879103|879104|879105|879106|879107|879108|879109|879110|879111|879112|880644|880645|880646|880647|914249|914250|914283|914336|914340|914356|914364|916603|928676|928677|928678|928679|938399|938400|938401|938402|941208|950487|950488|950489|950490|950491|950492|958453|958454|960261|960262|966486|967211", "text": "Arrhythmogenic right ventricular cardiomyopathy, type 11" }, { - "baseId": "31892|31893|31895|31897|31898|31900|918905|983785", + "upstreamId": "31892|31893|31895|31897|31898|31900|918905|983785", "text": "Dentinogenesis imperfecta - Shield's type II" }, { - "baseId": "31894|31895", + "upstreamId": "31894|31895", "text": "Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1" }, { - "baseId": "31895", + "upstreamId": "31895", "text": "Dentinogenesis imperfecta - Shield's type III" }, { - "baseId": "31896|31899|539128|539129", + "upstreamId": "31896|31899|539128|539129", "text": "Denticles" }, { - "baseId": "31901|31902|31903|31904|31905|31907|31908|306496|306497|306498|306504|306511|306513|306514|306516|306525|306536|310673|310675|310677|310681|310686|310694|310698|310702|310705|310706|310707|310721|310723|316070|316076|316079|316084|316085|316086|316088|316089|316092|316095|316096|316097|316098|316384|316401|316402|316405|316406|316414|316417|316424|316444|316447|316450|316453|316459|316463|316465|316469|513073|536755|539433|637635|736820|900852|900853|900854|900855|900856|900857|900858|900859|900860|900861|900862|900863|900864|900865|900866|900867|900868|900869|900870|900871|900872|900873|900874|900875|900876|900877|900878|900879|900880|903298|903299|903300", + "upstreamId": "31901|31902|31903|31904|31905|31907|31908|306496|306497|306498|306504|306511|306513|306514|306516|306525|306536|310673|310675|310677|310681|310686|310694|310698|310702|310705|310706|310707|310721|310723|316070|316076|316079|316084|316085|316086|316088|316089|316092|316095|316096|316097|316098|316384|316401|316402|316405|316406|316414|316417|316424|316444|316447|316450|316453|316459|316463|316465|316469|513073|536755|539433|637635|736820|900852|900853|900854|900855|900856|900857|900858|900859|900860|900861|900862|900863|900864|900865|900866|900867|900868|900869|900870|900871|900872|900873|900874|900875|900876|900877|900878|900879|900880|903298|903299|903300", "text": "Porphobilinogen synthase deficiency" }, { - "baseId": "31903", + "upstreamId": "31903", "text": "AMINOLEVULINATE DEHYDRATASE, ALAD*1/ALAD*2 POLYMORPHISM" }, { - "baseId": "31906", + "upstreamId": "31906", "text": "Porphyria, acute hepatic, digenic" }, { - "baseId": "31909|34154|76571|131908|318693|318694|318698|318701|318702|318703|318707|318708|326991|326994|326998|327004|327006|327008|327024|327027|327028|327029|327035|333108|333109|333113|334826|334854|334856|334859|334860|620460|738897|870550|870551|870552|870553|870554|870555|870556|870557|870558|870559|870560|870561", + "upstreamId": "31909|34154|76571|131908|318693|318694|318698|318701|318702|318703|318707|318708|326991|326994|326998|327004|327006|327008|327024|327027|327028|327029|327035|333108|333109|333113|334826|334854|334856|334859|334860|620460|738897|870550|870551|870552|870553|870554|870555|870556|870557|870558|870559|870560|870561", "text": "Congenital stromal corneal dystrophy" }, { - "baseId": "31910|31911|226396", + "upstreamId": "31910|31911|226396", "text": "Cromer blood group system" }, { - "baseId": "31912", + "upstreamId": "31912", "text": "Graft-versus-host disease, resistance to" }, { - "baseId": "31913", + "upstreamId": "31913", "text": "Rheumatoid arthritis, progression of" }, { - "baseId": "31915|31919|304569|304593|304598|308315|313361|313446|313448|313479|711339|722890|722896|722897|730545|730546|736492|750944|750946|750948|766569|766570|783009|783010|787584|851183|978417|978418|978419|978420|978421|978422|978423|978424|978425|978426|978427|978428|978429|978430|978431|978432|978433|978434|978435|978436|978437|978438|978439|978440|978441|978442|978443|978444", + "upstreamId": "31915|31919|304569|304593|304598|308315|313361|313446|313448|313479|711339|722890|722896|722897|730545|730546|736492|750944|750946|750948|766569|766570|783009|783010|787584|851183|978417|978418|978419|978420|978421|978422|978423|978424|978425|978426|978427|978428|978429|978430|978431|978432|978433|978434|978435|978436|978437|978438|978439|978440|978441|978442|978443|978444", "text": "Corticosterone methyl oxidase type II deficiency" }, { - "baseId": "31916|31917|31918|31919|31921|304547|304548|304552|304553|304554|304555|304569|304570|304571|304572|304573|304577|304580|304581|304583|304593|304594|304596|304598|304602|304605|308289|308296|308310|308312|308315|308316|308321|308322|308323|313344|313345|313346|313347|313348|313349|313350|313355|313361|313362|313407|313411|313418|313425|313428|313433|313445|313446|313448|313449|313454|313455|313456|313457|313462|313464|313467|313479|353825|711339|722896|750943|750948|766574|783007|834166|899064|899065|899066|899067|899068|899069|899070|899071|899072|899073|899074|899075|899076|899077|899078|899079|899080|899081|899082|899083|899084|899085|899086|899087|900454|900455", + "upstreamId": "31916|31917|31918|31919|31921|304547|304548|304552|304553|304554|304555|304569|304570|304571|304572|304573|304577|304580|304581|304583|304593|304594|304596|304598|304602|304605|308289|308296|308310|308312|308315|308316|308321|308322|308323|313344|313345|313346|313347|313348|313349|313350|313355|313361|313362|313407|313411|313418|313425|313428|313433|313445|313446|313448|313449|313454|313455|313456|313457|313462|313464|313467|313479|353825|711339|722896|750943|750948|766574|783007|834166|899064|899065|899066|899067|899068|899069|899070|899071|899072|899073|899074|899075|899076|899077|899078|899079|899080|899081|899082|899083|899084|899085|899086|899087|900454|900455", "text": "Corticosterone methyloxidase type 1 deficiency" }, { - "baseId": "31916|31920|31924|31925|304547|304548|304552|304553|304554|304555|304569|304570|304571|304572|304573|304577|304580|304581|304583|304593|304594|304596|304598|304602|304605|308289|308296|308310|308312|308315|308316|308321|308322|308323|313344|313345|313346|313347|313348|313349|313350|313355|313361|313362|313407|313411|313418|313425|313428|313433|313445|313446|313448|313449|313454|313455|313456|313457|313462|313464|313467|313479|353825|711339|722896|750943|750948|766574|783007|899064|899065|899066|899067|899068|899069|899070|899071|899072|899073|899074|899075|899076|899077|899078|899079|899080|899081|899082|899083|899084|899085|899086|899087|900454|900455", + "upstreamId": "31916|31920|31924|31925|304547|304548|304552|304553|304554|304555|304569|304570|304571|304572|304573|304577|304580|304581|304583|304593|304594|304596|304598|304602|304605|308289|308296|308310|308312|308315|308316|308321|308322|308323|313344|313345|313346|313347|313348|313349|313350|313355|313361|313362|313407|313411|313418|313425|313428|313433|313445|313446|313448|313449|313454|313455|313456|313457|313462|313464|313467|313479|353825|711339|722896|750943|750948|766574|783007|899064|899065|899066|899067|899068|899069|899070|899071|899072|899073|899074|899075|899076|899077|899078|899079|899080|899081|899082|899083|899084|899085|899086|899087|900454|900455", "text": "Corticosterone methyloxidase type 2 deficiency" }, { - "baseId": "31916|38484|711337|711341|722891|722895|730547|750943|766572|766574|783007|783008|783015", + "upstreamId": "31916|38484|711337|711341|722891|722895|730547|750943|766572|766574|783007|783008|783015", "text": "Corticosterone 18-monooxygenase deficiency" }, { - "baseId": "31922|31923", + "upstreamId": "31922|31923", "text": "Aldosterone to renin ratio, increased" }, { - "baseId": "31927", + "upstreamId": "31927", "text": "CYP2E1*6 ALLELE" }, { - "baseId": "31928|31929|31930|31931|31932|31933", + "upstreamId": "31928|31929|31930|31931|31932|31933", "text": "Debrisoquine, poor metabolism of" }, { - "baseId": "31928", + "upstreamId": "31928", "text": "doxepin response - Dosage, Toxicity/ADR" }, { - "baseId": "31928", + "upstreamId": "31928", "text": "antidepressants response - Dosage, Toxicity/ADR" }, { - "baseId": "31928", + "upstreamId": "31928", "text": "trimipramine response - Dosage, Toxicity/ADR" }, { - "baseId": "31928", + "upstreamId": "31928", "text": "imipramine response - Dosage, Toxicity/ADR" }, { - "baseId": "31928", + "upstreamId": "31928", "text": "clomipramine response - Dosage, Toxicity/ADR" }, { - "baseId": "31928", + "upstreamId": "31928", "text": "tamoxifen response - Efficacy, Toxicity/ADR" }, { - "baseId": "31928", + "upstreamId": "31928", "text": "amitriptyline response - Dosage, Toxicity/ADR" }, { - "baseId": "31928", + "upstreamId": "31928", "text": "nortriptyline response - Dosage, Toxicity/ADR" }, { - "baseId": "31928", + "upstreamId": "31928", "text": "desipramine response - Dosage, Toxicity/ADR" }, { - "baseId": "31928|31930|31932|47984", + "upstreamId": "31928|31930|31932|47984", "text": "Deutetrabenazine response" }, { - "baseId": "31928|31929|31930|31932|47984", + "upstreamId": "31928|31929|31930|31932|47984", "text": "Tamoxifen response" }, { - "baseId": "31935", + "upstreamId": "31935", "text": "Codeine response" }, { - "baseId": "31936|31937|31938|31939", + "upstreamId": "31936|31937|31938|31939", "text": "Mephenytoin, poor metabolism of" }, { - "baseId": "31936|31938", + "upstreamId": "31936|31938", "text": "Proguanil, poor metabolism of" }, { - "baseId": "31936", + "upstreamId": "31936", "text": "Clopidogrel response" }, { - "baseId": "31936", + "upstreamId": "31936", "text": "amitriptyline response - Efficacy" }, { - "baseId": "31936|31938", + "upstreamId": "31936|31938", "text": "clopidogrel response - Efficacy, Toxicity/ADR" }, { - "baseId": "31936|227758|227777", + "upstreamId": "31936|227758|227777", "text": "citalopram response - Efficacy" }, { - "baseId": "31936", + "upstreamId": "31936", "text": "clomipramine response - Efficacy" }, { - "baseId": "31937|31938|31939|47946|47948|47949|622287|622289", + "upstreamId": "31937|31938|31939|47946|47948|47949|622287|622289", "text": "CYP2C19: no function" }, { - "baseId": "31939|227812", + "upstreamId": "31939|227812", "text": "clopidogrel response - Efficacy" }, { - "baseId": "31940|31941|31944|31946|31949|31950|31951|31952|31953|31954|306789|306817|311631|679662", + "upstreamId": "31940|31941|31944|31946|31949|31950|31951|31952|31953|31954|306789|306817|311631|679662", "text": "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis" }, { - "baseId": "31941|31942|31943|31945|31946|31952|31954|142492|142493|207490|252926|252927|252929|252930|268412|303365|303366|303373|303376|303386|303388|303394|303396|303404|303406|303410|303417|303419|306773|306779|306781|306788|306793|306794|306796|306797|306803|306805|306806|306807|306814|306819|306827|311603|311614|311617|311632|311634|311635|311637|311648|311649|311671|311672|311736|311741|311746|311749|311751|311755|428743|428744|433858|433859|444161|457445|501805|561753|561756|562151|562165|587443|609664|609665|609666|620267|620268|692294|692295|692296|700224|700226|711129|736273|750777|750778|777876|898363|898364|898365|898366|898367|898368|898369|898370|898371|898372|898373|898374|898375|898376|898377|898378|898379|898380|898381|898382|898383|898384|898385|898386|898387|898388|898389|898390|898391|898392|898393|898394|898395|898396|898397|898398|898399|898400|898401|898402|898403|898404|900393|900394|900395|900396|900397|900398|900399|900400|900401", + "upstreamId": "31941|31942|31943|31945|31946|31952|31954|142492|142493|207490|252926|252927|252929|252930|268412|303365|303366|303373|303376|303386|303388|303394|303396|303404|303406|303410|303417|303419|306773|306779|306781|306788|306793|306794|306796|306797|306803|306805|306806|306807|306814|306819|306827|311603|311614|311617|311632|311634|311635|311637|311648|311649|311671|311672|311736|311741|311746|311749|311751|311755|428743|428744|433858|433859|444161|457445|501805|561753|561756|562151|562165|587443|609664|609665|609666|620267|620268|692294|692295|692296|700224|700226|711129|736273|750777|750778|777876|898363|898364|898365|898366|898367|898368|898369|898370|898371|898372|898373|898374|898375|898376|898377|898378|898379|898380|898381|898382|898383|898384|898385|898386|898387|898388|898389|898390|898391|898392|898393|898394|898395|898396|898397|898398|898399|898400|898401|898402|898403|898404|900393|900394|900395|900396|900397|900398|900399|900400|900401", "text": "Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency" }, { - "baseId": "31955", + "upstreamId": "31955", "text": "CYP3A4 PROMOTER POLYMORPHISM" }, { - "baseId": "31955", + "upstreamId": "31955", "text": "Cyp3a4-v" }, { - "baseId": "31955", + "upstreamId": "31955", "text": "tacrolimus response - Dosage" }, { - "baseId": "31956|178822|252772|590721", + "upstreamId": "31956|178822|252772|590721", "text": "Thrombocytopenia 4" }, { - "baseId": "31957|31958|31959|77413|317903|317904|317908|317909|317913|317915|317916|317917|317921|317923|317928|317929|325761|325764|325766|325779|325788|325792|325793|325795|325796|325805|325807|325810|325815|325822|325825|325826|325827|325837|325840|325844|332042|332043|332051|332062|332063|332065|332066|332069|332073|332076|332077|332079|332085|332088|332089|332091|333519|333521|333531|333532|333533|333541|333548|333549|333550|333551|333553|344375|620849|702382|870144|870145|870146|870147|870148|870149|870150|870151|870152|870153|870154|870155|870156|870157|870158|870159|872263|872264", + "upstreamId": "31957|31958|31959|77413|317903|317904|317908|317909|317913|317915|317916|317917|317921|317923|317928|317929|325761|325764|325766|325779|325788|325792|325793|325795|325796|325805|325807|325810|325815|325822|325825|325826|325827|325837|325840|325844|332042|332043|332051|332062|332063|332065|332066|332069|332073|332076|332077|332079|332085|332088|332089|332091|333519|333521|333531|333532|333533|333541|333548|333549|333550|333551|333553|344375|620849|702382|870144|870145|870146|870147|870148|870149|870150|870151|870152|870153|870154|870155|870156|870157|870158|870159|872263|872264", "text": "White sponge nevus 1" }, { - "baseId": "31960", + "upstreamId": "31960", "text": "Thyroid-associated orbitopathy, susceptibility to" }, { - "baseId": "31960|31961|425459", + "upstreamId": "31960|31961|425459", "text": "Celiac disease 3" }, { - "baseId": "31960", + "upstreamId": "31960", "text": "TYPE 1 DIABETES MELLITUS 12, SUSCEPTIBILITY TO" }, { - "baseId": "31962|31963|50339|336594|336599|336602|336606|336608|346300|346301|346304|346309|346315|346316|350548|350553|350554|350557|351591|351592|351595|351596|351598|351603|469525|533819|533820|533835|534375|534377|534379|573064|573065|573067|573762|575152|620670|648927|648928|648929|648930|648931|648932|648933|648934|648935|728861|742594|757750|757751|773295|773296|792005|821363|848721|848722|848723|848724|848725|848726|852397|886687|886688|886689|887502|920421|929304|929305|939084|939085|939086|939087|951210|951211|951212|958942|958943", + "upstreamId": "31962|31963|50339|336594|336599|336602|336606|336608|346300|346301|346304|346309|346315|346316|350548|350553|350554|350557|351591|351592|351595|351596|351598|351603|469525|533819|533820|533835|534375|534377|534379|573064|573065|573067|573762|575152|620670|648927|648928|648929|648930|648931|648932|648933|648934|648935|728861|742594|757750|757751|773295|773296|792005|821363|848721|848722|848723|848724|848725|848726|852397|886687|886688|886689|887502|920421|929304|929305|939084|939085|939086|939087|951210|951211|951212|958942|958943", "text": "Inflammatory bowel disease 25, autosomal recessive" }, { - "baseId": "31964|31965|31966|40503|40504|40507|40509|49860|323030|323031|323035|323037|323038|332650|332651|339586|339589|339598|339616|340992|340994|341001|341004|620874|656295|799814|799815|873941|873942|873943|873944|873945|873946|873947|873948|873949|873950|873951|873952|873953|873954|876551|876552", + "upstreamId": "31964|31965|31966|40503|40504|40507|40509|49860|323030|323031|323035|323037|323038|332650|332651|339586|339589|339598|339616|340992|340994|341001|341004|620874|656295|799814|799815|873941|873942|873943|873944|873945|873946|873947|873948|873949|873950|873951|873952|873953|873954|876551|876552", "text": "Osteogenesis imperfecta type 9" }, { - "baseId": "31967|31968|132977|137613|137615|137616|139534|139537|151805|180549|183600|183602|183603|183604|183606|183608|183610|222261|234586|244831|318133|318135|318142|318150|318151|318156|318157|332284|332289|332303|332312|332314|333856|333860|333870|333875|333890|333901|333903|372522|373213|408725|408726|462670|462675|462681|463262|476470|476480|539330|575892|575893|791265|791266|791267|870225|870226|870227|870228|870229|870230|870231", + "upstreamId": "31967|31968|132977|137613|137615|137616|139534|139537|151805|180549|183600|183602|183603|183604|183606|183608|183610|222261|234586|244831|318133|318135|318142|318150|318151|318156|318157|332284|332289|332303|332312|332314|333856|333860|333870|333875|333890|333901|333903|372522|373213|408725|408726|462670|462675|462681|463262|476470|476480|539330|575892|575893|791265|791266|791267|870225|870226|870227|870228|870229|870230|870231", "text": "Cutaneous malignant melanoma 3" }, { - "baseId": "31969|31970|31971|31972|152817|195551|206565|227269|227270|539191|799359|799360", + "upstreamId": "31969|31970|31971|31972|152817|195551|206565|227269|227270|539191|799359|799360", "text": "Retinitis pigmentosa 49" }, { - "baseId": "31973|31974|175915", + "upstreamId": "31973|31974|175915", "text": "Deafness, autosomal dominant 40" }, { - "baseId": "31975|452347|519216|608997|608998|691348|827773", + "upstreamId": "31975|452347|519216|608997|608998|691348|827773", "text": "Cataract 20 multiple types" }, { - "baseId": "31976|31977|31978|31979|31980|31981|79354|250511|250512|250513|250514|284256|284260|284264|284266|284988|284992|284994|286973|286976|286977|287346|287347|450404|450430|517680|517797|557824|883537|883538|883539|883540|883541|883542|887246", + "upstreamId": "31976|31977|31978|31979|31980|31981|79354|250511|250512|250513|250514|284256|284260|284264|284266|284988|284992|284994|286973|286976|286977|287346|287347|450404|450430|517680|517797|557824|883537|883538|883539|883540|883541|883542|887246", "text": "Cataract 4" }, { - "baseId": "31976|31979|284994|286973|286976|287347|557871|629319|825618", + "upstreamId": "31976|31979|284994|286973|286976|287347|557871|629319|825618", "text": "Aculeiform cataract" }, { - "baseId": "31979|31987|31988|51095|79349|79352|79367|98632|137432|181456|213975|213976|213977|213978|213979|213980|213981|213982|213983|213984|213985|213986|213987|213988|213989|213990|213991|213992|213993|213994|213995|213996|213999|214000|214003|214004|214005|214006|214007|214008|214009|214010|247345|247346|247347|247348|247349|247350|247351|247352|247353|247354|247355|247356|247357|247358|251155|263198|290603|290607|291502|291503|291509|291603|294724|295105|295123|302005|302006|302022|305180|305202|309011|309887|309889|309923|309925|309926|309936|309970|350766|354065|361002|361925|361933|424444|590734|624881|625774|792692|822308", + "upstreamId": "31979|31987|31988|51095|79349|79352|79367|98632|137432|181456|213975|213976|213977|213978|213979|213980|213981|213982|213983|213984|213985|213986|213987|213988|213989|213990|213991|213992|213993|213994|213995|213996|213999|214000|214003|214004|214005|214006|214007|214008|214009|214010|247345|247346|247347|247348|247349|247350|247351|247352|247353|247354|247355|247356|247357|247358|251155|263198|290603|290607|291502|291503|291509|291603|294724|295105|295123|302005|302006|302022|305180|305202|309011|309887|309889|309923|309925|309926|309936|309970|350766|354065|361002|361925|361933|424444|590734|624881|625774|792692|822308", "text": "Congenital cataract" }, { - "baseId": "31982", + "upstreamId": "31982", "text": "Cataract 2, Coppock-like" }, { - "baseId": "31983|31984|76976|76977|76978|79367|450438|450528|450531|517682", + "upstreamId": "31983|31984|76976|76977|76978|79367|450438|450528|450531|517682", "text": "Cataract 2, multiple types" }, { - "baseId": "31985|31986|214006|257591|416851|469990|469993|573973|649232|649233|694697|694699|742835|778468|788327|849107|929421|939226|951365|951366|959041", + "upstreamId": "31985|31986|214006|257591|416851|469990|469993|573973|649232|649233|694697|694699|742835|778468|788327|849107|929421|939226|951365|951366|959041", "text": "Cataract 23, multiple types" }, { - "baseId": "31987|152956|257577|337644|337645|347214|347216|347219|351223|351224|351227|351228|352237|352239|352242|470919|471407|471805|534092|620925|620926|649230|653230|694696|890960|890961|890962|890963|890964|890965|890966|890967|890968|890969|890970|890971|890972|890973|890974|890975|890976|891813", + "upstreamId": "31987|152956|257577|337644|337645|347214|347216|347219|351223|351224|351227|351228|352237|352239|352242|470919|471407|471805|534092|620925|620926|649230|653230|694696|890960|890961|890962|890963|890964|890965|890966|890967|890968|890969|890970|890971|890972|890973|890974|890975|890976|891813", "text": "Cataract, congenital nuclear, autosomal recessive 2" }, { - "baseId": "31988|31989|214002|257580|264987|470921|471806|471807|571750|656684|849105|849106|919945|919946|919947|929420|939225", + "upstreamId": "31988|31989|214002|257580|264987|470921|471806|471807|571750|656684|849105|849106|919945|919946|919947|929420|939225", "text": "Cataract 3, multiple types" }, { - "baseId": "31991|79364|227387|256110|413461|467213|512267|551584|570831|645432|844840", + "upstreamId": "31991|79364|227387|256110|413461|467213|512267|551584|570831|645432|844840", "text": "Cataract, congenital zonular, with sutural opacities" }, { - "baseId": "31992|31994|31995|38624|47566|51099|53399|53406|178210|312348|324369|565481|792582|798995|867042|867043", + "upstreamId": "31992|31994|31995|38624|47566|51099|53399|53406|178210|312348|324369|565481|792582|798995|867042|867043", "text": "Alpha-B crystallinopathy" }, { - "baseId": "31993|51095|51096|51097|51098|53399|53400|53401|53406|178210|312347|312350|318236|324369|325066|565481|798995|867042|867043|919317", + "upstreamId": "31993|51095|51096|51097|51098|53399|53400|53401|53406|178210|312347|312350|318236|324369|325066|565481|798995|867042|867043|919317", "text": "Cataract 16, multiple types" }, { - "baseId": "31996|31998|31999|79348|79349|79351|79352|79353|257472|257473|257474|336890|336900|336903|346592|346594|346604|346609|350768|350770|350771|350773|351810|351811|351813|351815|351816|351822|469654|533904|848821|886883|886884|886885|886886|886887|886888|886889", + "upstreamId": "31996|31998|31999|79348|79349|79351|79352|79353|257472|257473|257474|336890|336900|336903|346592|346594|346604|346609|350768|350770|350771|350773|351810|351811|351813|351815|351816|351822|469654|533904|848821|886883|886884|886885|886886|886887|886888|886889", "text": "Cataract, autosomal dominant" }, { - "baseId": "31997", + "upstreamId": "31997", "text": "Cataract 9, autosomal recessive" }, { - "baseId": "31999|79351|79352", + "upstreamId": "31999|79351|79352", "text": "Cataract, autosomal dominant, multiple types, with microcornea" }, { - "baseId": "32000|217218|251846|296975|296976|296982|296983|296987|296988|296991|298857|298858|298876|298877|298878|298879|298882|298883|298890|298892|298907|303179|303183|303317|303318|303320|303322|303325|303326|303328|303332|303333|303336|303344|893953|893954|893955|893956|893957|893958|893959|893960|893961|893962|893963|893964|893965|893966|893967|893968|893969|893970|893971|893972|893973|893974|893975|893976|893977|893978|918942|918943", + "upstreamId": "32000|217218|251846|296975|296976|296982|296983|296987|296988|296991|298857|298858|298876|298877|298878|298879|298882|298883|298890|298892|298907|303179|303183|303317|303318|303320|303322|303325|303326|303328|303332|303333|303336|303344|893953|893954|893955|893956|893957|893958|893959|893960|893961|893962|893963|893964|893965|893966|893967|893968|893969|893970|893971|893972|893973|893974|893975|893976|893977|893978|918942|918943", "text": "Craniosynostosis 2" }, { - "baseId": "32000|217218|296994|298886|314073|314117|320588|320659|326637|327546|521433|633760|633761", + "upstreamId": "32000|217218|296994|298886|314073|314117|320588|320659|326637|327546|521433|633760|633761", "text": "Enlarged parietal foramina" }, { - "baseId": "32001|32002|32003|32004|32005|32007|251846|296975|296976|296982|296983|296987|296988|296991|298857|298858|298876|298877|298878|298879|298882|298883|298890|298892|298907|303179|303183|303317|303318|303320|303322|303325|303326|303328|303332|303333|303336|303344|454951|790538|893953|893954|893955|893956|893957|893958|893959|893960|893961|893962|893963|893964|893965|893966|893967|893968|893969|893970|893971|893972|893973|893974|893975|893976|893977|893978", + "upstreamId": "32001|32002|32003|32004|32005|32007|251846|296975|296976|296982|296983|296987|296988|296991|298857|298858|298876|298877|298878|298879|298882|298883|298890|298892|298907|303179|303183|303317|303318|303320|303322|303325|303326|303328|303332|303333|303336|303344|454951|790538|893953|893954|893955|893956|893957|893958|893959|893960|893961|893962|893963|893964|893965|893966|893967|893968|893969|893970|893971|893972|893973|893974|893975|893976|893977|893978", "text": "Parietal foramina 1" }, { - "baseId": "32006", + "upstreamId": "32006", "text": "Parietal foramina with cleidocranial dysplasia" }, { - "baseId": "32008|32011", + "upstreamId": "32008|32011", "text": "Nicotine, poor metabolism of" }, { - "baseId": "32009", + "upstreamId": "32009", "text": "CYP2A6*4A" }, { - "baseId": "32010", + "upstreamId": "32010", "text": "Tegafur response" }, { - "baseId": "32011", + "upstreamId": "32011", "text": "CYP2A6*3" }, { - "baseId": "32011", + "upstreamId": "32011", "text": "Cyp2a6, v2" }, { - "baseId": "32012", + "upstreamId": "32012", "text": "CYP2A6*12A" }, { - "baseId": "32013|32014|32015", + "upstreamId": "32013|32014|32015", "text": "Corticosteroid-binding globulin deficiency" }, { - "baseId": "32017|32018|32019|32020|65604|65605|65606|65607|65608|213992|254821|254822|254823|319082|319083|319084|319085|319091|319093|319095|319097|319100|319109|319114|319116|327535|327537|327538|327539|327541|327542|327545|327561|327563|327570|333774|333778|333782|333783|333784|333787|333793|333801|333802|333804|333808|333812|333814|333818|333827|333828|333833|333840|333842|333847|333850|333852|333853|333857|333859|333861|335450|335451|335457|335463|335464|335471|335475|335493|335500|335505|335510|335511|335528|335530|335533|462598|462606|463378|463414|527510|567190|641577|641578|641579|820547|840576|870795|870796|870797|870798|870799|870800|870801|870802|870803|870804|870805|870806|870807|870808|870809|870810|870811|870812|870813|870814|870815|870816|870817|870818|870819|870820|870821|870822|870823|870824|870825|870826|870827|870828|870829|870830|936353|964402", + "upstreamId": "32017|32018|32019|32020|65604|65605|65606|65607|65608|213992|254821|254822|254823|319082|319083|319084|319085|319091|319093|319095|319097|319100|319109|319114|319116|327535|327537|327538|327539|327541|327542|327545|327561|327563|327570|333774|333778|333782|333783|333784|333787|333793|333801|333802|333804|333808|333812|333814|333818|333827|333828|333833|333840|333842|333847|333850|333852|333853|333857|333859|333861|335450|335451|335457|335463|335464|335471|335475|335493|335500|335505|335510|335511|335528|335530|335533|462598|462606|463378|463414|527510|567190|641577|641578|641579|820547|840576|870795|870796|870797|870798|870799|870800|870801|870802|870803|870804|870805|870806|870807|870808|870809|870810|870811|870812|870813|870814|870815|870816|870817|870818|870819|870820|870821|870822|870823|870824|870825|870826|870827|870828|870829|870830|936353|964402", "text": "Zonular pulverulent cataract 3" }, { - "baseId": "32021|32022|32023|32024|32025|32027|32028|32030|32031|32032|32033|32036|38622|38623|94303|141185|141186|252067|298839|298842|298843|298847|298849|298860|298864|298865|301323|301326|301327|301328|301329|301331|301332|301333|305689|305692|305693|305696|305699|305700|305708|305709|305810|305819|305822|305823|305838|305857|305858|305859|305860|353742|428500|428501|428502|565358|683759|790577|895253|895254|895255|895256|895257|895258|895259|895260|895261|895262|895263|895264|895265|895266|895267|895268|895269|895270|895271|895272|895273|895274|895275|895276", + "upstreamId": "32021|32022|32023|32024|32025|32027|32028|32030|32031|32032|32033|32036|38622|38623|94303|141185|141186|252067|298839|298842|298843|298847|298849|298860|298864|298865|301323|301326|301327|301328|301329|301331|301332|301333|305689|305692|305693|305696|305699|305700|305708|305709|305810|305819|305822|305823|305838|305857|305858|305859|305860|353742|428500|428501|428502|565358|683759|790577|895253|895254|895255|895256|895257|895258|895259|895260|895261|895262|895263|895264|895265|895266|895267|895268|895269|895270|895271|895272|895273|895274|895275|895276", "text": "Oculodentodigital dysplasia" }, { - "baseId": "32024|32029|32030|32034|32035|141185|141186|199879|239879|305810|305822|359706|455825|456046|456047|456052|521345|521976|560552|563349|565358|634522|634523|831472|831473|924234|933149|933150|944864|944865", + "upstreamId": "32024|32029|32030|32034|32035|141185|141186|199879|239879|305810|305822|359706|455825|456046|456047|456052|521345|521976|560552|563349|565358|634522|634523|831472|831473|924234|933149|933150|944864|944865", "text": "Oculodentodigital dysplasia, autosomal recessive" }, { - "baseId": "32026|32030|141185|298839|298842|298843|298847|298849|298860|298864|298865|301323|301326|301327|301332|301333|305689|305692|305693|305696|305699|305709|305810|305819|305822|305823|305838|305857|305858|305859|565358|683759|895253|895254|895255|895256|895257|895258|895259|895260|895261|895262|895263|895264|895265|895266|895267|895268|895269|895270|895271|895272|895273|895274|895275|895276", + "upstreamId": "32026|32030|141185|298839|298842|298843|298847|298849|298860|298864|298865|301323|301326|301327|301332|301333|305689|305692|305693|305696|305699|305709|305810|305819|305822|305823|305838|305857|305858|305859|565358|683759|895253|895254|895255|895256|895257|895258|895259|895260|895261|895262|895263|895264|895265|895266|895267|895268|895269|895270|895271|895272|895273|895274|895275|895276", "text": "Syndactyly type 3" }, { - "baseId": "32029|32030|70500|141185|239781|239782|252067|298839|298842|298843|298847|298849|298860|298864|298865|301323|301326|301327|301328|301329|301331|301332|301333|305689|305692|305693|305696|305699|305700|305708|305709|305810|305819|305822|305823|305838|305857|305858|305859|305860|353742|565358|683759|895253|895254|895255|895256|895257|895258|895259|895260|895261|895262|895263|895264|895265|895266|895267|895268|895269|895270|895271|895272|895273|895274|895275|895276", + "upstreamId": "32029|32030|70500|141185|239781|239782|252067|298839|298842|298843|298847|298849|298860|298864|298865|301323|301326|301327|301328|301329|301331|301332|301333|305689|305692|305693|305696|305699|305700|305708|305709|305810|305819|305822|305823|305838|305857|305858|305859|305860|353742|565358|683759|895253|895254|895255|895256|895257|895258|895259|895260|895261|895262|895263|895264|895265|895266|895267|895268|895269|895270|895271|895272|895273|895274|895275|895276", "text": "Hypoplastic left heart syndrome 1" }, { - "baseId": "32029|32030|360872|918994|918995", + "upstreamId": "32029|32030|360872|918994|918995", "text": "Atrioventricular septal defect 3" }, { - "baseId": "32037|32037|38618|38619|38620|38621|132416|276311|276312|276313|276313|276313|276314|276315|276539|276540|276545|276946|276962|276973|276983|277009|277100|277107|277108|277111|446905|515110|556588|556629|556919|556921|556923|558102|558104|614073|619949|619950|626782|626783|626784|626785|650516|683289|818812|822671|822672|822673|822674|822675|862173|862174|862176|862177|862178|862179|862180|862181|862182|930021|941436|952055|952056", + "upstreamId": "32037|32037|38618|38619|38620|38621|132416|276311|276312|276313|276313|276313|276314|276315|276539|276540|276545|276946|276962|276973|276983|277009|277100|277107|277108|277111|446905|515110|556588|556629|556919|556921|556923|558102|558104|614073|619949|619950|626782|626783|626784|626785|650516|683289|818812|822671|822672|822673|822674|822675|862173|862174|862176|862177|862178|862179|862180|862181|862182|930021|941436|952055|952056", "text": "Atrial fibrillation, familial, 11" }, { - "baseId": "32037|276313|276313|276314|446905|515110|556588|556629|556919|556921|556923|558102|558104|626782|626783|626784|626785|650516|683289|818812|822671|822672|822673|822674|822675|930021|941436|952055|952056", + "upstreamId": "32037|276313|276313|276314|446905|515110|556588|556629|556919|556921|556923|558102|558104|626782|626783|626784|626785|650516|683289|818812|822671|822672|822673|822674|822675|930021|941436|952055|952056", "text": "Atrial standstill 1" }, { - "baseId": "32038", + "upstreamId": "32038", "text": "Atrial fibrillation, somatic" }, { - "baseId": "32039|32041|32046|32049|32055|32059|32062|34237|44941|44942|44943|53882|53883|53884|53887|53888|53891|53899|53906|53910|53912|53916|53921|53922|100288|175762|175909|186432|192367|230437|319120|319122|327572|327575|327578|327579|327582|327583|327586|333862|333863|333864|335541|335544|335547|335548|335549|335550|335552|335553|335557|353285|362175|432245|620467|620469|621385|870831|870832|870833|870834|870835|870836|870837|870838|870839|870840|870841|870842|870843|870844|870845", + "upstreamId": "32039|32041|32046|32049|32055|32059|32062|34237|44941|44942|44943|53882|53883|53884|53887|53888|53891|53899|53906|53910|53912|53916|53921|53922|100288|175762|175909|186432|192367|230437|319120|319122|327572|327575|327578|327579|327582|327583|327586|333862|333863|333864|335541|335544|335547|335548|335549|335550|335552|335553|335557|353285|362175|432245|620467|620469|621385|870831|870832|870833|870834|870835|870836|870837|870838|870839|870840|870841|870842|870843|870844|870845", "text": "Hystrix-like ichthyosis with deafness" }, { - "baseId": "32039|32041|32042|32043|32046|32048|32049|32050|32053|32053|32055|32056|32057|32058|32062|32065|32066|32070|32075|34237|34239|38617|44941|44942|44943|44943|53882|53883|53884|53887|53888|53891|53899|53905|53906|53907|53909|53910|53912|53916|53921|53922|53927|53933|100288|169009|175762|175909|186432|192367|227135|227213|227350|230434|230437|319120|319122|327572|327575|327578|327579|327582|327583|327586|333862|333863|333864|335544|335547|335548|335549|335550|335552|335553|335557|358128|358129|358130|358131|358132|358133|358134|358135|362175|413167|413168|413169|413170|432245|511033|551725|581711|620467|620469|621385|870831|870832|870833|870834|870835|870836|870837|870838|870839|870840|870841|870842|870843|870844|870845", + "upstreamId": "32039|32041|32042|32043|32046|32048|32049|32050|32053|32053|32055|32056|32057|32058|32062|32065|32066|32070|32075|34237|34239|38617|44941|44942|44943|44943|53882|53883|53884|53887|53888|53891|53899|53905|53906|53907|53909|53910|53912|53916|53921|53922|53927|53933|100288|169009|175762|175909|186432|192367|227135|227213|227350|230434|230437|319120|319122|327572|327575|327578|327579|327582|327583|327586|333862|333863|333864|335544|335547|335548|335549|335550|335552|335553|335557|358128|358129|358130|358131|358132|358133|358134|358135|362175|413167|413168|413169|413170|432245|511033|551725|581711|620467|620469|621385|870831|870832|870833|870834|870835|870836|870837|870838|870839|870840|870841|870842|870843|870844|870845", "text": "Deafness, autosomal dominant 3a" }, { - "baseId": "32039|32041|32043|32044|32045|32046|32048|32049|32051|32053|32055|32059|32068|34241|38617|52376|53892|53904|53907|53909|53911|53916|53927|53928|100292|169011|175904|186432|186857|186864|229547|230143|230342|358134|408478|439510|439511|490937|551723|551724|551725|551726|551727|551728|792662|792663|792664|792665|861668|965617", + "upstreamId": "32039|32041|32043|32044|32045|32046|32048|32049|32051|32053|32055|32059|32068|34241|38617|52376|53892|53904|53907|53909|53911|53916|53927|53928|100292|169011|175904|186432|186857|186864|229547|230143|230342|358134|408478|439510|439511|490937|551723|551724|551725|551726|551727|551728|792662|792663|792664|792665|861668|965617", "text": "Hearing loss" }, { - "baseId": "32039|32062|53922|170211|171004|175904|358132|425880|431384|789142", + "upstreamId": "32039|32062|53922|170211|171004|175904|358132|425880|431384|789142", "text": "Nonsyndromic Deafness" }, { - "baseId": "32043|263404|590734", + "upstreamId": "32043|263404|590734", "text": "Severe sensorineural hearing impairment" }, { - "baseId": "32043|550227|553415", + "upstreamId": "32043|550227|553415", "text": "Bilateral conductive hearing impairment" }, { - "baseId": "32043|53210|54304|55057|55236|55237|55245|55291|55653|55658|57034|173796|174423|175230|175287|175289|192865|201048|228257|229964|230920|247044|252536|253830|256660|275808|275954|283145|283148|283152|283174|283899|283901|285701|285753|286066|288746|294822|294829|294859|299954|299983|299990|299995|299997|299999|300000|300001|300013|300016|300183|301071|301090|301098|301101|301314|301439|302642|302646|302652|302653|302654|302655|302656|302659|302669|304063|304629|307001|307019|307024|307037|307038|307039|307044|307270|307274|307282|307283|307300|307302|307303|307305|307306|307307|307312|308684|308796|308849|308861|308865|308869|308876|308933|309466|310068|310529|310535|310662|310741|310742|310745|312290|312292|312293|312294|312295|312297|312299|312300|312314|312318|312816|315094|315098|315636|315674|315906|315931|315967|315972|316006|316010|316044|316047|316048|316100|316153|318118|318119|318125|318137|318146|318158|318168|321120|321125|321177|321656|321707|321728|321749|321928|322088|322101|322102|322105|322106|322108|322109|322395|322646|322651|322653|322702|322713|322714|322725|322726|324177|324183|324187|324189|324196|324240|324947|324981|324985|324991|325652|325804|325849|327554|327557|327562|327600|327999|328005|328178|329099|329131|329139|329165|329173|329192|329209|329416|331390|335541|337361|337363|337368|337407|337410|341667|345140|346521|347050|350742|350746|353204|353205|353285|861642|861643", + "upstreamId": "32043|53210|54304|55057|55236|55237|55245|55291|55653|55658|57034|173796|174423|175230|175287|175289|192865|201048|228257|229964|230920|247044|252536|253830|256660|275808|275954|283145|283148|283152|283174|283899|283901|285701|285753|286066|288746|294822|294829|294859|299954|299983|299990|299995|299997|299999|300000|300001|300013|300016|300183|301071|301090|301098|301101|301314|301439|302642|302646|302652|302653|302654|302655|302656|302659|302669|304063|304629|307001|307019|307024|307037|307038|307039|307044|307270|307274|307282|307283|307300|307302|307303|307305|307306|307307|307312|308684|308796|308849|308861|308865|308869|308876|308933|309466|310068|310529|310535|310662|310741|310742|310745|312290|312292|312293|312294|312295|312297|312299|312300|312314|312318|312816|315094|315098|315636|315674|315906|315931|315967|315972|316006|316010|316044|316047|316048|316100|316153|318118|318119|318125|318137|318146|318158|318168|321120|321125|321177|321656|321707|321728|321749|321928|322088|322101|322102|322105|322106|322108|322109|322395|322646|322651|322653|322702|322713|322714|322725|322726|324177|324183|324187|324189|324196|324240|324947|324981|324985|324991|325652|325804|325849|327554|327557|327562|327600|327999|328005|328178|329099|329131|329139|329165|329173|329192|329209|329416|331390|335541|337361|337363|337368|337407|337410|341667|345140|346521|347050|350742|350746|353204|353205|353285|861642|861643", "text": "Nonsyndromic Hearing Loss, Recessive" }, { - "baseId": "32043|176412|247076|442564|497401|551992|551993|551994|551995|551996|551997|551998|551999|552000|552001|552002|552003|552004|552005|552006|552007|552008|552009|552010|552011|552012|552013|552014|552015|552016|552017|552018|552019|552020|552021|552022|552023|552024|552025|552026|552027|800970|861136", + "upstreamId": "32043|176412|247076|442564|497401|551992|551993|551994|551995|551996|551997|551998|551999|552000|552001|552002|552003|552004|552005|552006|552007|552008|552009|552010|552011|552012|552013|552014|552015|552016|552017|552018|552019|552020|552021|552022|552023|552024|552025|552026|552027|800970|861136", "text": "Deafness" }, { - "baseId": "32049|32051|247546|335541|353285", + "upstreamId": "32049|32051|247546|335541|353285", "text": "Mutilating keratoderma" }, { - "baseId": "32049|53738|54304|57028|57034|174345|174831|175230|175746|229190|229465|229964|252536|266947|282176|282187|282319|293956|293964|295337|295339|299083|299138|299143|301071|301090|301098|301101|301717|304063|305890|306130|306147|307200|308684|308796|308849|308861|308865|308869|308876|308933|312816|313213|313221|313225|315694|315695|315696|318100|319043|319668|320414|320766|320772|322570|322598|324947|325804|325849|328178|328754|328767|329416|329627|329629|329972|329987|332262|333789|334103|335541|335774|337581|338132|338140|338146|338147|338153|344052|344054|347648|347707|349280|350256|350267|351515|351555|352507|352510|352514|352517|353204|353205|353206|353285|353304|353606|353607|353769", + "upstreamId": "32049|53738|54304|57028|57034|174345|174831|175230|175746|229190|229465|229964|252536|266947|282176|282187|282319|293956|293964|295337|295339|299083|299138|299143|301071|301090|301098|301101|301717|304063|305890|306130|306147|307200|308684|308796|308849|308861|308865|308869|308876|308933|312816|313213|313221|313225|315694|315695|315696|318100|319043|319668|320414|320766|320772|322570|322598|324947|325804|325849|328178|328754|328767|329416|329627|329629|329972|329987|332262|333789|334103|335541|335774|337581|338132|338140|338146|338147|338153|344052|344054|347648|347707|349280|350256|350267|351515|351555|352507|352510|352514|352517|353204|353205|353206|353285|353304|353606|353607|353769", "text": "Nonsyndromic Hearing Loss, Dominant" }, { - "baseId": "32049|620468", + "upstreamId": "32049|620468", "text": "GJB2-Related Disorders" }, { - "baseId": "32049|335541|353285", + "upstreamId": "32049|335541|353285", "text": "Keratitis ichthyosis and deafness syndrome" }, { - "baseId": "32050|32066|361033|361034", + "upstreamId": "32050|32066|361033|361034", "text": "Hereditary palmoplantar keratoderma" }, { - "baseId": "32055|48180|918956", + "upstreamId": "32055|48180|918956", "text": "Horseshoe kidney" }, { - "baseId": "32055|805096|974533", + "upstreamId": "32055|805096|974533", "text": "Congenital omphalocele" }, { - "baseId": "32055", + "upstreamId": "32055", "text": "Short palpebral fissure" }, { - "baseId": "32059|32060|32061|32067|32072|590509", + "upstreamId": "32059|32060|32061|32067|32072|590509", "text": "Keratitis-ichthyosis-deafness syndrome, autosomal dominant" }, { - "baseId": "32069|32073", + "upstreamId": "32069|32073", "text": "Knuckle pads, deafness AND leukonychia syndrome" }, { - "baseId": "32075|33288|53912|226237|226666|226667|226668|362484|362485|362486|362487|362488|513982", + "upstreamId": "32075|33288|53912|226237|226666|226667|226668|362484|362485|362486|362487|362488|513982", "text": "Progressive sensorineural hearing impairment" }, { - "baseId": "32077|44257|44258|44259|44260|44261|44262|550315|816303|816304", + "upstreamId": "32077|44257|44258|44259|44260|44261|44262|550315|816303|816304", "text": "Type II complement component 8 deficiency" }, { - "baseId": "32078", + "upstreamId": "32078", "text": "COMPLEMENT COMPONENT 8, ALPHA SUBUNIT, A/B POLYMORPHISM" }, { - "baseId": "32079|32080|32081|32081|32082|38614|188759|389216|512817|818239|961947", + "upstreamId": "32079|32080|32081|32081|32082|38614|188759|389216|512817|818239|961947", "text": "Complement component 9 deficiency" }, { - "baseId": "32081|97546", + "upstreamId": "32081|97546", "text": "Macular degeneration, age-related, 15" }, { - "baseId": "32083|32084|32085|32086|32087|32088|260775|278614|278616|278622|278624|278629|278630|278725|278733|278736|278754|278755|278756|278757|278758|278770|278772|278779|278780|278786|278788|278789|279938|279947|279948|279950|279960|280016|280017|280022|280024|354159|432279|437833|496599|512796|590235|623242|707045|707046|818165|818166|818167|863367|863368|863369|863370|863371|863372|863373|863374|863375|863376|863377|863378|863379|863380|863381|863382|863383|863384|863385|863386|863387|863388|863389|865099|865100|865101", + "upstreamId": "32083|32084|32085|32086|32087|32088|260775|278614|278616|278622|278624|278629|278630|278725|278733|278736|278754|278755|278756|278757|278758|278770|278772|278779|278780|278786|278788|278789|279938|279947|279948|279950|279960|280016|280017|280022|280024|354159|432279|437833|496599|512796|590235|623242|707045|707046|818165|818166|818167|863367|863368|863369|863370|863371|863372|863373|863374|863375|863376|863377|863378|863379|863380|863381|863382|863383|863384|863385|863386|863387|863388|863389|865099|865100|865101", "text": "Atypical hemolytic-uremic syndrome 2" }, { - "baseId": "32089|32090|32091|32092|497052|538404|614334|970889", + "upstreamId": "32089|32090|32091|32092|497052|538404|614334|970889", "text": "Complement component 5 deficiency" }, { - "baseId": "32093", + "upstreamId": "32093", "text": "Liver fibrosis, susceptibility to" }, { - "baseId": "32094", + "upstreamId": "32094", "text": "C4a deficiency" }, { - "baseId": "32095|97565", + "upstreamId": "32095|97565", "text": "MACULAR DEGENERATION, AGE-RELATED, 9, SUSCEPTIBILITY TO" }, { - "baseId": "32095", + "upstreamId": "32095", "text": "C3S/C3F POLYMORPHISM" }, { - "baseId": "32095|32096|97565|97565|334455|334458|334469|334472|334475|334482|334483|334492|334494|334496|334500|334501|334503|334508|334514|334515|334517|334523|334527|344330|344330|344334|344335|344336|344339|344348|344354|344357|344360|344364|344365|344371|344373|344374|344380|344381|349443|349444|349446|349447|349449|349450|349451|349454|349457|349459|349461|349464|349467|349470|349471|349473|350429|350432|350433|350436|350441|350444|350447|350450|350452|350456|350457|350461|350462|350464|350467|350472|350475|376879|614464|622120|716757|731313|742162|742167|772939|776913|860623|882582|882583|882584|882585|882586|882587|882588|882589|882590|882591|882592|882593|882594|882595|882596|882597|882598|882599|882600|882601|882602|882603|882604|882605|882606|882607|882608|882609|882610|882611|882942|882943|882944|882945|882946|882947|882948|882949|882950|882951|882952|882953", + "upstreamId": "32095|32096|97565|97565|334455|334458|334469|334472|334475|334482|334483|334492|334494|334496|334500|334501|334503|334508|334514|334515|334517|334523|334527|344330|344330|344334|344335|344336|344339|344348|344354|344357|344360|344364|344365|344371|344373|344374|344380|344381|349443|349444|349446|349447|349449|349450|349451|349454|349457|349459|349461|349464|349467|349470|349471|349473|350429|350432|350433|350436|350441|350444|350447|350450|350452|350456|350457|350461|350462|350464|350467|350472|350475|376879|614464|622120|716757|731313|742162|742167|772939|776913|860623|882582|882583|882584|882585|882586|882587|882588|882589|882590|882591|882592|882593|882594|882595|882596|882597|882598|882599|882600|882601|882602|882603|882604|882605|882606|882607|882608|882609|882610|882611|882942|882943|882944|882945|882946|882947|882948|882949|882950|882951|882952|882953", "text": "Age-related macular degeneration 9" }, { - "baseId": "32096", + "upstreamId": "32096", "text": "C3 POLYMORPHISM, HAV 4-1 PLUS/MINUS TYPE" }, { - "baseId": "32096|32099|32100|32101|32102|97565|97565|198641|334455|334458|334469|334472|334475|334482|334483|334492|334494|334496|334500|334501|334503|334508|334514|334515|334517|334523|334527|344330|344330|344334|344335|344336|344339|344348|344354|344357|344360|344364|344365|344371|344373|344374|344380|344381|349443|349444|349446|349447|349449|349450|349451|349454|349457|349459|349461|349464|349467|349470|349471|349473|350429|350432|350433|350436|350441|350444|350447|350450|350452|350456|350457|350461|350462|350464|350467|350472|350475|376879|513145|590335|614464|622120|716757|731313|742162|742167|772939|776913|818342|818344|860623|882582|882583|882584|882585|882586|882587|882588|882589|882590|882591|882592|882593|882594|882595|882596|882597|882598|882599|882600|882601|882602|882603|882604|882605|882606|882607|882608|882609|882610|882611|882942|882943|882944|882945|882946|882947|882948|882949|882950|882951|882952|882953|980393", + "upstreamId": "32096|32099|32100|32101|32102|97565|97565|198641|334455|334458|334469|334472|334475|334482|334483|334492|334494|334496|334500|334501|334503|334508|334514|334515|334517|334523|334527|344330|344330|344334|344335|344336|344339|344348|344354|344357|344360|344364|344365|344371|344373|344374|344380|344381|349443|349444|349446|349447|349449|349450|349451|349454|349457|349459|349461|349464|349467|349470|349471|349473|350429|350432|350433|350436|350441|350444|350447|350450|350452|350456|350457|350461|350462|350464|350467|350472|350475|376879|513145|590335|614464|622120|716757|731313|742162|742167|772939|776913|818342|818344|860623|882582|882583|882584|882585|882586|882587|882588|882589|882590|882591|882592|882593|882594|882595|882596|882597|882598|882599|882600|882601|882602|882603|882604|882605|882606|882607|882608|882609|882610|882611|882942|882943|882944|882945|882946|882947|882948|882949|882950|882951|882952|882953|980393", "text": "Atypical hemolytic-uremic syndrome 5" }, { - "baseId": "32096|97565|97565|334455|334458|334469|334472|334475|334482|334483|334492|334494|334496|334500|334501|334503|334508|334514|334515|334517|334523|334527|344330|344330|344334|344335|344336|344339|344348|344354|344357|344360|344364|344365|344371|344373|344374|344380|344381|349443|349444|349446|349447|349449|349450|349451|349454|349457|349459|349461|349464|349467|349470|349471|349473|350429|350432|350433|350436|350441|350444|350447|350450|350452|350456|350457|350461|350462|350464|350467|350472|350475|376879|590336|614464|622120|716757|731313|742162|742167|772939|776913|818343|860623|882582|882583|882584|882585|882586|882587|882588|882589|882590|882591|882592|882593|882594|882595|882596|882597|882598|882599|882600|882601|882602|882603|882604|882605|882606|882607|882608|882609|882610|882611|882942|882943|882944|882945|882946|882947|882948|882949|882950|882951|882952|882953", + "upstreamId": "32096|97565|97565|334455|334458|334469|334472|334475|334482|334483|334492|334494|334496|334500|334501|334503|334508|334514|334515|334517|334523|334527|344330|344330|344334|344335|344336|344339|344348|344354|344357|344360|344364|344365|344371|344373|344374|344380|344381|349443|349444|349446|349447|349449|349450|349451|349454|349457|349459|349461|349464|349467|349470|349471|349473|350429|350432|350433|350436|350441|350444|350447|350450|350452|350456|350457|350461|350462|350464|350467|350472|350475|376879|590336|614464|622120|716757|731313|742162|742167|772939|776913|818343|860623|882582|882583|882584|882585|882586|882587|882588|882589|882590|882591|882592|882593|882594|882595|882596|882597|882598|882599|882600|882601|882602|882603|882604|882605|882606|882607|882608|882609|882610|882611|882942|882943|882944|882945|882946|882947|882948|882949|882950|882951|882952|882953", "text": "Complement component 3 deficiency, autosomal recessive" }, { - "baseId": "32097|32098|32103|334509|344343|344359|344383|349452|350459", + "upstreamId": "32097|32098|32103|334509|344343|344359|344383|349452|350459", "text": "C3 deficiency" }, { - "baseId": "32106|32107|540577|614383|614384|614384|818300|964399|980471", + "upstreamId": "32106|32107|540577|614383|614384|614384|818300|964399|980471", "text": "Complement component c1s deficiency" }, { - "baseId": "32108|32109|32110|32111|32112|434365|434366|434367|434368|512799|512800|614206|614207|624173|963120", + "upstreamId": "32108|32109|32110|32111|32112|434365|434366|434367|434368|512799|512800|614206|614207|624173|963120", "text": "C1q deficiency" }, { - "baseId": "32114", + "upstreamId": "32114", "text": "Esophageal carcinoma, somatic" }, { - "baseId": "32115|32116|185689|185690|185691|185692|185693|185694|185695|185696|185697|185698|185699|185700|185701|362052|362056|362057|550791|791867", + "upstreamId": "32115|32116|185689|185690|185691|185692|185693|185694|185695|185696|185697|185698|185699|185700|185701|362052|362056|362057|550791|791867", "text": "Mirror movements 1" }, { - "baseId": "32119|32126|32133|45202|45212|45234|45242|94671|94826|94837|94838|94924|95087|95218|95322|95360|95362|95460|95466|95473|95540|95665|95724|95734|95761|95792|95793|95830|95832|95854|95913|95979|95984|96029|96065|96080|96202|96238|96255|96258|96279|96367|96378|96420|96492|96564|96578|96584|98485|133027|133208|138591|150473|151109|152161|152481|152684|180033|182160|182245|231655|367409|393356|405792|416964|419364|419478|427193|432520|443423|473466|473514|483508|518396|560749|610947|610987|617377|622528|630084|630261|807302|807597|809178|826693|826706|909306|910956|943003|943028|961696|961697|961698|961699|961700|961701|961702|961703|961704|961705|961706|961707|961708|961709|961710|961711|961712|961713|961714|961715|961716|961717|961718|961719|961720|961721|961722|961723|961724|961725|961726|961727|961728|961729|961730|961731|961732|961733|961734|961735|961736|961737|961738|961739|961740|961741|961742|961743|961744|961745", + "upstreamId": "32119|32126|32133|45202|45212|45234|45242|94671|94826|94837|94838|94924|95087|95218|95322|95360|95362|95460|95466|95473|95540|95665|95724|95734|95761|95792|95793|95830|95832|95854|95913|95979|95984|96029|96065|96080|96202|96238|96255|96258|96279|96367|96378|96420|96492|96564|96578|96584|98485|133027|133208|138591|150473|151109|152161|152481|152684|180033|182160|182245|231655|367409|393356|405792|416964|419364|419478|427193|432520|443423|473466|473514|483508|518396|560749|610947|610987|617377|622528|630084|630261|807302|807597|809178|826693|826706|909306|910956|943003|943028|961696|961697|961698|961699|961700|961701|961702|961703|961704|961705|961706|961707|961708|961709|961710|961711|961712|961713|961714|961715|961716|961717|961718|961719|961720|961721|961722|961723|961724|961725|961726|961727|961728|961729|961730|961731|961732|961733|961734|961735|961736|961737|961738|961739|961740|961741|961742|961743|961744|961745", "text": "Lynch-like syndrome" }, { - "baseId": "32135", + "upstreamId": "32135", "text": "Colorectal cancer, sporadic, susceptibility to" }, { - "baseId": "32137|50226|95904|96145|133417|139704|195467|222826|239530|394483|417649|427217|452681|483849|550664|550666|550683|550730|550738|550739|623763|624831", + "upstreamId": "32137|50226|95904|96145|133417|139704|195467|222826|239530|394483|417649|427217|452681|483849|550664|550666|550683|550730|550738|550739|623763|624831", "text": "Malignant tumor of colon" }, { - "baseId": "32146|195340|266330|267601|268580|269600|335584|335585|335586|335587|335591|335596|345354|345357|345359|350025|350026|350027|350030|351061|351064|351065|351068|351069|351072|351073|351076|620660|620661|620662|620920|705508|717012|728687|728688|728689|742439|886167|886168|886169|886170|886171|886172|886173|886174|886175|886176|886177|886178|886179|886180|887464|887465", + "upstreamId": "32146|195340|266330|267601|268580|269600|335584|335585|335586|335587|335591|335596|345354|345357|345359|350025|350026|350027|350030|351061|351064|351065|351068|351069|351072|351073|351076|620660|620661|620662|620920|705508|717012|728687|728688|728689|742439|886167|886168|886169|886170|886171|886172|886173|886174|886175|886176|886177|886178|886179|886180|887464|887465", "text": "Metaphyseal anadysplasia 2" }, { - "baseId": "32147|32148|32149|32150|32151|191222|195335|267755|325733|325735|325736|325743|325749|325750|325751|325752|325756|325758|325759|325765|325777|335373|335375|335379|335383|335384|335387|335389|335392|335396|335399|335401|335404|341847|341849|341850|341854|341855|341856|341857|341858|341859|341860|341862|341863|343347|343350|343355|343358|343359|343361|343362|343365|343370|361221|489951|490882|614157|678072|714976|726688|726689|740248|740254|755242|875486|875487|875488|875489|875490|875491|875492|875493|875494|875495|875496|875497|875498|875499|875500|875501|875502|875503|875504|875505|875506|875507|875508|875509|875510|875511|875512|875513|875514|875515|875516|875517|875518|876679|903610", + "upstreamId": "32147|32148|32149|32150|32151|191222|195335|267755|325733|325735|325736|325743|325749|325750|325751|325752|325756|325758|325759|325765|325777|335373|335375|335379|335383|335384|335387|335389|335392|335396|335399|335401|335404|341847|341849|341850|341854|341855|341856|341857|341858|341859|341860|341862|341863|343347|343350|343355|343358|343359|343361|343362|343365|343370|361221|489951|490882|614157|678072|714976|726688|726689|740248|740254|755242|875486|875487|875488|875489|875490|875491|875492|875493|875494|875495|875496|875497|875498|875499|875500|875501|875502|875503|875504|875505|875506|875507|875508|875509|875510|875511|875512|875513|875514|875515|875516|875517|875518|876679|903610", "text": "Multicentric osteolysis, nodulosis and arthropathy" }, { - "baseId": "32153", + "upstreamId": "32153", "text": "Pulmonary disease, chronic obstructive, rate of decline of lung function in" }, { - "baseId": "32153", + "upstreamId": "32153", "text": "Epidermolysis bullosa dystrophica, autosomal recessive, modifier of" }, { - "baseId": "32154|32155|32156|32157|32158|38607|38608|39627|76340|76341|237151|257483|257484|257485|257486|257490|257492|257493|257494|257495|257496|257502|257503|257505|257507|257516|336945|336950|336954|336955|336967|336969|336971|336975|336980|336981|336983|336991|336993|336997|336999|337008|337009|337011|337012|337013|337014|337023|337025|337026|337028|337029|337033|337034|337044|337051|337056|337058|337066|346684|346685|346693|346704|346711|346717|346719|346723|346724|346731|346732|346733|346739|346740|346748|346769|346777|346782|346783|346784|346785|346787|346788|346796|346810|346811|346814|350824|350825|350827|350830|350831|350832|350838|350839|350842|350843|350846|350847|350850|350851|350854|350856|350859|350861|350863|350866|350867|350870|350871|350874|350875|350878|350879|350882|351867|351868|351869|351870|351871|351872|351873|351874|351875|351876|351877|351878|351879|351880|351881|351882|351883|351884|351885|351886|351887|351888|351889|351890|351891|351892|351893|390699|418973|442317|442319|442331|442333|442334|442335|508935|508936|508937|512964|539101|539163|539164|578580|583003|612199|612337|620674|654925|672300|705740|705741|788943|792012|792013|792521|800626|861045|861046|886925|886926|886927|886928|886929|886930|886931|886932|886933|886934|886935|886936|886937|886938|886939|886940|886941|886942|886943|886944|886945|886946|886947|886948|886949|886950|886951|886952|886953|886954|886955|886956|886957|886958|886959|886960|886961|886962|886963|886964|886965|886966|886967|886968|886969|886970|886971|886972|886973|886974|886975|886976|886977|886978|886979|886980|886981|887522|887523|887524|887525|887526|887527|887528|887529|887530|887531|887532|903640|903641|964549", + "upstreamId": "32154|32155|32156|32157|32158|38607|38608|39627|76340|76341|237151|257483|257484|257485|257486|257490|257492|257493|257494|257495|257496|257502|257503|257505|257507|257516|336945|336950|336954|336955|336967|336969|336971|336975|336980|336981|336983|336991|336993|336997|336999|337008|337009|337011|337012|337013|337014|337023|337025|337026|337028|337029|337033|337034|337044|337051|337056|337058|337066|346684|346685|346693|346704|346711|346717|346719|346723|346724|346731|346732|346733|346739|346740|346748|346769|346777|346782|346783|346784|346785|346787|346788|346796|346810|346811|346814|350824|350825|350827|350830|350831|350832|350838|350839|350842|350843|350846|350847|350850|350851|350854|350856|350859|350861|350863|350866|350867|350870|350871|350874|350875|350878|350879|350882|351867|351868|351869|351870|351871|351872|351873|351874|351875|351876|351877|351878|351879|351880|351881|351882|351883|351884|351885|351886|351887|351888|351889|351890|351891|351892|351893|390699|418973|442317|442319|442331|442333|442334|442335|508935|508936|508937|512964|539101|539163|539164|578580|583003|612199|612337|620674|654925|672300|705740|705741|788943|792012|792013|792521|800626|861045|861046|886925|886926|886927|886928|886929|886930|886931|886932|886933|886934|886935|886936|886937|886938|886939|886940|886941|886942|886943|886944|886945|886946|886947|886948|886949|886950|886951|886952|886953|886954|886955|886956|886957|886958|886959|886960|886961|886962|886963|886964|886965|886966|886967|886968|886969|886970|886971|886972|886973|886974|886975|886976|886977|886978|886979|886980|886981|887522|887523|887524|887525|887526|887527|887528|887529|887530|887531|887532|903640|903641|964549", "text": "Knobloch syndrome 1" }, { - "baseId": "32159|32161|32162|32166|55719|55720|55721|55722|55723|55724|55725|55726|55727|55729|55730|55731|55732|55733|55734|55735|174359|174360|174361|174362|174365|174366|174367|174368|174370|174371|174374|174376|174497|174500|174501|174502|174506|174506|191960|193796|194635|195091|195498|195517|195770|195770|227296|229440|229442|229444|229445|229447|229448|229452|229455|229456|229461|229462|229465|229466|229470|229475|229479|252330|252334|266947|266947|270329|270741|299883|299889|299892|299895|299897|299899|299901|299904|299906|302506|302507|302508|302511|302512|302513|302522|302532|302534|302535|302536|302537|306913|306914|306916|306917|306918|306919|306922|306923|306924|306925|306926|306934|306935|307189|307191|307199|307200|307201|307202|307207|307208|307211|307213|307214|353769|368659|406861|443954|496460|496461|501733|501959|537810|538385|552434|655743|682806|682819|682820|795841|895822|895823|895824|895825|895826|895827|895828|895829|895830|895831|895832|895833|895834|895835|895836|895837|895838|895839|895840|895841|895842|895843|895844|895845|895846|895847|896225|896226|896227|896228|896229|896230|896231", + "upstreamId": "32159|32161|32162|32166|55719|55720|55721|55722|55723|55724|55725|55726|55727|55729|55730|55731|55732|55733|55734|55735|174359|174360|174361|174362|174365|174366|174367|174368|174370|174371|174374|174376|174497|174500|174501|174502|174506|174506|191960|193796|194635|195091|195498|195517|195770|195770|227296|229440|229442|229444|229445|229447|229448|229452|229455|229456|229461|229462|229465|229466|229470|229475|229479|252330|252334|266947|266947|270329|270741|299883|299889|299892|299895|299897|299899|299901|299904|299906|302506|302507|302508|302511|302512|302513|302522|302532|302534|302535|302536|302537|306913|306914|306916|306917|306918|306919|306922|306923|306924|306925|306926|306934|306935|307189|307191|307199|307200|307201|307202|307207|307208|307211|307213|307214|353769|368659|406861|443954|496460|496461|501733|501959|537810|538385|552434|655743|682806|682819|682820|795841|895822|895823|895824|895825|895826|895827|895828|895829|895830|895831|895832|895833|895834|895835|895836|895837|895838|895839|895840|895841|895842|895843|895844|895845|895846|895847|896225|896226|896227|896228|896229|896230|896231", "text": "Otospondylomegaepiphyseal dysplasia, autosomal dominant" }, { - "baseId": "32160|32165|32167|32169|55719|55720|55721|55722|55723|55724|55725|55726|55727|55729|55730|55731|55732|55733|55734|55735|174359|174360|174361|174362|174365|174366|174367|174368|174370|174371|174374|174376|174497|174500|174501|174502|174506|174506|191960|193796|194635|195091|195498|195517|195770|227296|229440|229442|229444|229445|229447|229448|229452|229455|229456|229461|229462|229465|229466|229470|229475|229479|252330|252334|266947|266947|270329|270741|299883|299889|299892|299895|299897|299899|299901|299904|299906|302506|302507|302508|302511|302512|302513|302522|302532|302534|302535|302536|302537|306913|306914|306916|306917|306918|306919|306922|306923|306924|306925|306926|306934|306935|307189|307191|307199|307200|307201|307202|307207|307208|307211|307213|307214|353769|368659|406861|496460|496461|501733|501959|537810|552161|552434|655743|790614|790615|795841|798574|895822|895823|895824|895825|895826|895827|895828|895829|895830|895831|895832|895833|895834|895835|895836|895837|895838|895839|895840|895841|895842|895843|895844|895845|895846|895847|896225|896226|896227|896228|896229|896230|896231", + "upstreamId": "32160|32165|32167|32169|55719|55720|55721|55722|55723|55724|55725|55726|55727|55729|55730|55731|55732|55733|55734|55735|174359|174360|174361|174362|174365|174366|174367|174368|174370|174371|174374|174376|174497|174500|174501|174502|174506|174506|191960|193796|194635|195091|195498|195517|195770|227296|229440|229442|229444|229445|229447|229448|229452|229455|229456|229461|229462|229465|229466|229470|229475|229479|252330|252334|266947|266947|270329|270741|299883|299889|299892|299895|299897|299899|299901|299904|299906|302506|302507|302508|302511|302512|302513|302522|302532|302534|302535|302536|302537|306913|306914|306916|306917|306918|306919|306922|306923|306924|306925|306926|306934|306935|307189|307191|307199|307200|307201|307202|307207|307208|307211|307213|307214|353769|368659|406861|496460|496461|501733|501959|537810|552161|552434|655743|790614|790615|795841|798574|895822|895823|895824|895825|895826|895827|895828|895829|895830|895831|895832|895833|895834|895835|895836|895837|895838|895839|895840|895841|895842|895843|895844|895845|895846|895847|896225|896226|896227|896228|896229|896230|896231", "text": "Otospondylomegaepiphyseal dysplasia, autosomal recessive" }, { - "baseId": "32163|32164|32166|46196|174365|174502|174506|195770|195770|227296|368659|406861|625799|800396|964275|970831", + "upstreamId": "32163|32164|32166|46196|174365|174502|174506|195770|195770|227296|368659|406861|625799|800396|964275|970831", "text": "Deafness, autosomal dominant 13" }, { - "baseId": "32168|170211|174502|174506|195770|215057|227296|368659|406861|622369|800396|802072|802073", + "upstreamId": "32168|170211|174502|174506|195770|215057|227296|368659|406861|622369|800396|802072|802073", "text": "Deafness, autosomal recessive 53" }, { - "baseId": "32170|32174|32176|99869|99870|99871|177627|177628|192640|193940|195072|195125|195150|195180|195462|195521|195635|195937|237273|249270|249274|249277|249279|249282|249283|249285|249287|249291|249295|249297|249301|249304|268987|273644|273898|275071|275622|275645|275656|275657|275658|275659|275660|275662|275663|275664|275665|275666|275667|275668|275669|275670|275672|275673|275675|275678|275682|275683|275685|275686|275687|275688|275689|275691|275692|275693|275694|275695|275696|275697|275698|275699|275700|275701|275702|275705|275706|275707|275708|275709|275710|275713|275714|275715|275716|275717|275719|275720|275721|275722|275723|275724|275725|275726|275728|275729|275731|275734|275735|275738|275739|275741|275744|275745|275749|275753|361277|364283|364300|497934|497939|497966|537679|552029|611359|612075|612076|624845|655021|655022|731510|743655|745500|792817|861764|861765|861766|861767|861768|861769|861770|861771|861772|861773|861774|861775|861776|861777|861778|861779|861780|861781|861782|861784|861785|861786|861787|861788|861789|861790|861791|861792|861793|861794|861795|861796|861797|861798|861799|864943|864944|864946|864947|864948|864949|864950|917789|961249|961586|977165", + "upstreamId": "32170|32174|32176|99869|99870|99871|177627|177628|192640|193940|195072|195125|195150|195180|195462|195521|195635|195937|237273|249270|249274|249277|249279|249282|249283|249285|249287|249291|249295|249297|249301|249304|268987|273644|273898|275071|275622|275645|275656|275657|275658|275659|275660|275662|275663|275664|275665|275666|275667|275668|275669|275670|275672|275673|275675|275678|275682|275683|275685|275686|275687|275688|275689|275691|275692|275693|275694|275695|275696|275697|275698|275699|275700|275701|275702|275705|275706|275707|275708|275709|275710|275713|275714|275715|275716|275717|275719|275720|275721|275722|275723|275724|275725|275726|275728|275729|275731|275734|275735|275738|275739|275741|275744|275745|275749|275753|361277|364283|364300|497934|497939|497966|537679|552029|611359|612075|612076|624845|655021|655022|731510|743655|745500|792817|861764|861765|861766|861767|861768|861769|861770|861771|861772|861773|861774|861775|861776|861777|861778|861779|861780|861781|861782|861784|861785|861786|861787|861788|861789|861790|861791|861792|861793|861794|861795|861796|861797|861798|861799|864943|864944|864946|864947|864948|864949|864950|917789|961249|961586|977165", "text": "Stickler syndrome type 2" }, { - "baseId": "32172", + "upstreamId": "32172", "text": "Marshall/Stickler syndrome" }, { - "baseId": "32173|32175|48375|177630|194896|194897|195521|275654|275676|275681|275684|275690|275704|275711|275712|275718|275727|275732|275740|364319|490221|917789|918538|918539|918540|918541|920116|920117|961249|961586|964641|970656|970657", + "upstreamId": "32173|32175|48375|177630|194896|194897|195521|275654|275676|275681|275684|275690|275704|275711|275712|275718|275727|275732|275740|364319|490221|917789|918538|918539|918540|918541|920116|920117|961249|961586|964641|970656|970657", "text": "Marshall syndrome" }, { - "baseId": 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+ "upstreamId": 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"text": "Fibrochondrogenesis 1" }, { - "baseId": "32177|32179|190383|193034|361234|377094|378137|481354|513382|513383|578577|620667|620668|677297|920419|971584", + "upstreamId": "32177|32179|190383|193034|361234|377094|378137|481354|513382|513383|578577|620667|620668|677297|920419|971584", "text": "Epiphyseal dysplasia, multiple, 3" }, { - "baseId": "32178|32184", + "upstreamId": "32178|32184", "text": "Intervertebral disc disease, susceptibility to" }, { - "baseId": "32180", + "upstreamId": "32180", "text": "Epiphyseal dysplasia, multiple, 3, with myopathy" }, { - "baseId": 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"32181|32182|32183|32185|192639|193781|193938|193939|195298|249892|249893|249894|249902|249905|249906|249908|249910|249911|249913|249914|249915|249918|249919|249920|249921|249923|249926|267042|267754|275467|280498|280501|280502|280505|280506|280507|280513|280516|280917|280936|280938|280942|280944|280945|280948|280961|282242|282245|282246|282248|282261|282279|282280|282460|282461|282469|282477|282479|282480|282482|282483|282483|282485|282493|282494|282494|282495|282496|282497|404746|404746|442838|489924|538337|538337|677276|759019|792890|864365|864366|864367|864368|864369|864370|864371|864372|864373|864374|864375|864376|864377|864378|864379|864380|864381|864382|865176|865177|865178|865179|918640|970689", "text": "Epiphyseal dysplasia, multiple, 2" }, { - "baseId": "32186|32187|178168", + "upstreamId": "32186|32187|178168", "text": "Corneal dystrophy, Fuchs endothelial 1" }, { - "baseId": "32186|32187", + "upstreamId": "32186|32187", "text": "Corneal dystrophy, posterior polymorphous, 2" }, { - "baseId": 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"text": "Bethlem myopathy 1" }, { - "baseId": "32189|32190|32195|32196|32197|32199|32200|32203|32205|32207|32216|32217|32218|32219|32221|38594|38595|45577|45578|99707|99720|99730|99745|99746|99763|99764|99766|99767|99768|99796|99829|100811|100822|100838|100856|100862|100867|100868|100875|100877|100878|100885|100888|100889|100890|100897|134262|134270|134271|172217|172262|190060|191040|192311|192311|193113|204973|260941|264978|266712|268930|269203|269985|270234|272656|272740|272804|272823|272923|273883|274174|404758|443198|450899|470796|471298|488657|493510|538966|608972|612111|621016|622477|622869|622870|622925|649089|918756|918757|918758|920422|961354|964697", + "upstreamId": "32189|32190|32195|32196|32197|32199|32200|32203|32205|32207|32216|32217|32218|32219|32221|38594|38595|45577|45578|99707|99720|99730|99745|99746|99763|99764|99766|99767|99768|99796|99829|100811|100822|100838|100856|100862|100867|100868|100875|100877|100878|100885|100888|100889|100890|100897|134262|134270|134271|172217|172262|190060|191040|192311|192311|193113|204973|260941|264978|266712|268930|269203|269985|270234|272656|272740|272804|272823|272923|273883|274174|404758|443198|450899|470796|471298|488657|493510|538966|608972|612111|621016|622477|622869|622870|622925|649089|918756|918757|918758|920422|961354|964697", "text": "Ullrich congenital muscular dystrophy 1" }, { - "baseId": "32201|32206|32214|32219|32220|100856", + "upstreamId": "32201|32206|32214|32219|32220|100856", "text": "Ullrich congenital muscular dystrophy 1, autosomal dominant" }, { - "baseId": 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38|887539|887540|887541|887542|887543|887544|887545|887546|887547|887548|887549|961546", "text": "Collagen VI-related myopathy" }, { - "baseId": "32204|32207|172274|257554|266712|268930|272823|350920|469813|493510|493510|608973|608974|887013|919941", + "upstreamId": "32204|32207|172274|257554|266712|268930|272823|350920|469813|493510|493510|608973|608974|887013|919941", "text": "Myosclerosis, autosomal recessive" }, { - "baseId": "32204|38598|38599", + "upstreamId": "32204|38598|38599", "text": "BETHLEM MYOPATHY 1, AUTOSOMAL RECESSIVE" }, { - "baseId": "32222|32223|32224|32225|32226|32227|32228|32229|32230|32231|32232|38593|524745|537853|637947|946472|967188|967189|967190|983673", + "upstreamId": "32222|32223|32224|32225|32226|32227|32228|32229|32230|32231|32232|38593|524745|537853|637947|946472|967188|967189|967190|983673", "text": "Ehlers-Danlos syndrome, classic type I" }, { - "baseId": 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"text": "Ehlers-Danlos syndrome, classic type" }, { - "baseId": "32233|192100|252474|267220|361186|443983|491272", + "upstreamId": "32233|192100|252474|267220|361186|443983|491272", "text": "Multiple epiphyseal dysplasia 6" }, { - "baseId": "32234|171284|267220|443983|491272|919045|919046", + "upstreamId": "32234|171284|267220|443983|491272|919045|919046", "text": "Stickler syndrome, type 4" }, { - "baseId": 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"text": "Ehlers-Danlos syndrome, type 4" }, { - "baseId": "32244", + "upstreamId": "32244", "text": "COLLAGEN TYPE III POLYMORPHISM" }, { - "baseId": "32260", + "upstreamId": "32260", "text": "EHLERS-DANLOS SYNDROME, NONVASCULAR VARIANT" }, { - "baseId": 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"32271|32272|32289|32290|32295|32309|44596|44598|44599|44600|44604|44609|44612|44624|193366|193367|252978|252979|252980|252981|252982|252983|252984|265335|266139|267364|269223|272375|303611|303618|303621|303624|303625|303626|303634|303636|303638|303639|303647|303648|303656|307066|307071|307080|307081|307082|307099|307100|307102|307104|311941|311959|311968|311978|311983|311985|311986|311987|311988|311991|311998|312000|312001|312006|312007|312009|312011|312019|312022|312024|312025|312030|312033|359685|369301|369302|370028|414024|425770|457591|457676|457725|457734|502172|523379|623145|626173|636458|692332|722743|898519|898520|898521|898522|898523|898524|898525|898526|898527|898528|898529|898530|898531|898532|898533|898534|898535|898536|898537|898538|898539|898540|898541|898542|898543|898544|898545|898546|898547|898548|898549|898550|898551|898552|898553|898554|898555|900419|900420", "text": "Ehlers-danlos syndrome, arthrochalasia type, 2" }, { - "baseId": 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1|845642|845643|845644|851165|851167|851731|851733|851735|851737|852221|852223|852226|852394|852762|852882|852883|852885|852889|852891|858311|858312|858313|877936|906202|924935|924936|924937|924938|924939|924940|924941|924942|924943|924944|924945|924946|924947|924948|924949|924950|924951|928369|928370|928371|928372|928373|928374|928375|928376|928377|928378|928379|928380|928381|928382|928383|928384|934034|934035|934036|934037|934038|934039|934040|934041|934042|934043|934044|938024|938025|938026|938027|938028|938029|938030|938031|938032|938033|938034|940884|940885|941185|941186|945795|945796|945797|945798|945799|945800|945801|945802|950027|950028|950029|950030|950031|950032|950033|950034|950035|950036|950037|950038|950039|950040|950041|950042|950043|955255|955256|955257|955258|955259|955260|955261|958187|958188|958189|958190|958191|958192|960224|960225|960226|960227|961335|964485|964486|964690|971084", "text": "Osteogenesis imperfecta type I" }, { - "baseId": "32274|32282|32283|32292|32302|32303|32307|32317|32325|32327|32334|32351|32370|32380|32382|32384|32385|213575|213576|213576|271557|361022|413951|413953|413955|413957|413960|413963|413967|413971|413972|413973|413974|413978|413995|413998|414012|414016|424604|457703|624865|626173|636458|798592|861042|861043|919124|919125|919126|919127|919741|919742|919743|919744|919745|920246|920375|920376|920377|961029|964295|970242", + "upstreamId": "32274|32282|32283|32292|32302|32303|32307|32317|32325|32327|32334|32351|32370|32380|32382|32384|32385|213575|213576|213576|271557|361022|413951|413953|413955|413957|413960|413963|413967|413971|413972|413973|413974|413978|413995|413998|414012|414016|424604|457703|624865|626173|636458|798592|861042|861043|919124|919125|919126|919127|919741|919742|919743|919744|919745|920246|920375|920376|920377|961029|964295|970242", "text": "Osteogenesis imperfecta with normal sclerae, dominant form" }, { - "baseId": "32275|32286|32292|32298|32300|32304|32306|32311|32321|32322|32327|32335|32342|32351|32363|32369|32370|32371|32375|32388|213575|213576|413954|413955|413955|413956|413959|413962|413964|413965|413966|413983|413984|413991|413999|414000|414002|414031|414034|424568|511010|552120|625805|626173|636458|672333|672334|672335|672336|672337|672338|672339|672340|672341|672342|672343|672344|672345|672346|672347|672348|672349|672350|672351|970242", + "upstreamId": "32275|32286|32292|32298|32300|32304|32306|32311|32321|32322|32327|32335|32342|32351|32363|32369|32370|32371|32375|32388|213575|213576|413954|413955|413955|413956|413959|413962|413964|413965|413966|413983|413984|413991|413999|414000|414002|414031|414034|424568|511010|552120|625805|626173|636458|672333|672334|672335|672336|672337|672338|672339|672340|672341|672342|672343|672344|672345|672346|672347|672348|672349|672350|672351|970242", "text": "Osteogenesis imperfecta type III" }, { - "baseId": "32276", + "upstreamId": "32276", "text": "Osteogenesis imperfecta, mild" }, { - "baseId": "32277|32278|32279|32280|32281|32284|32285|32287|32288|32291|32293|32296|32301|32320|32323|32326|32328|32329|32330|32331|32332|32333|32336|32337|32338|32339|32340|32341|32345|32347|32349|32352|32353|32357|32358|32360|32362|32364|32365|32366|32368|32377|32383|49905|49906|213575|213576|213576|266139|353896|360337|417441|457721|488774|590285|636458|677285|677286|800833|971583|980381", + "upstreamId": "32277|32278|32279|32280|32281|32284|32285|32287|32288|32291|32293|32296|32301|32320|32323|32326|32328|32329|32330|32331|32332|32333|32336|32337|32338|32339|32340|32341|32345|32347|32349|32352|32353|32357|32358|32360|32362|32364|32365|32366|32368|32377|32383|49905|49906|213575|213576|213576|266139|353896|360337|417441|457721|488774|590285|636458|677285|677286|800833|971583|980381", "text": "Osteogenesis imperfecta, recessive perinatal lethal" }, { - "baseId": 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+ "upstreamId": 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"text": "Osteogenesis imperfecta" }, { - "baseId": "32294", + "upstreamId": "32294", "text": "Osteogenesis imperfecta, atypical, with joint hypermobility" }, { - "baseId": "32297|45143|45144|612445", + "upstreamId": "32297|45143|45144|612445", "text": "Postmenopausal osteoporosis" }, { - "baseId": "32308|32310|32316|413949|976554", + "upstreamId": "32308|32310|32316|413949|976554", "text": "COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 2" }, { - "baseId": "32312|32313|32314|32315|32318|32319|44598|266139|636458", + "upstreamId": "32312|32313|32314|32315|32318|32319|44598|266139|636458", "text": "Ehlers-Danlos syndrome, cardiac valvular type" }, { - "baseId": "32350|32378|32389|33224|44561|44568|44579|44582|44586|44594|192612|193168|193768|194657|195079|215539|227394|237223|256273|256274|256275|256278|265559|266015|266139|267843|268771|269476|270586|271303|273413|303612|303655|307094|329125|329132|329142|329144|329145|329146|329147|329148|329152|339233|339234|339244|339247|339253|339256|339258|339269|339270|339272|339284|339288|339290|339292|339298|345133|345136|345137|345141|345144|345151|345154|345156|345157|345158|345159|345162|345163|345166|345170|346514|346519|346527|346528|346530|346547|346548|346549|346556|346557|346561|346565|346566|376210|376306|378450|410074|441977|441985|468197|468451|506041|506210|506546|506952|531261|538242|574522|623348|694122|694124|695759|704212|704214|715541|845630|877916|877917|877918|877919|877920|877921|877922|877923|877924|877925|877926|877927|877928|877929|877930|877931|877932|877933|877934|877935|877936|877937|877938|877939|877940|877941|877942|877943|877944|877945|880547|880548|880549|880550|961335|961515", + "upstreamId": 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"text": "Ehlers-Danlos syndrome, procollagen proteinase deficient" }, { - "baseId": "32354", + "upstreamId": "32354", "text": "Osteogenesis imperfecta, type III/IV" }, { - "baseId": "32356", + "upstreamId": "32356", "text": "OSTEOGENESIS IMPERFECTA, TYPE IIC" }, { - "baseId": "32359|32373", + "upstreamId": "32359|32373", "text": "Osteogenesis imperfecta type 1, mild" }, { - "baseId": "32365|263418", + "upstreamId": "32365|263418", "text": "27 conditions" }, { - "baseId": "32372|32379|32381", + "upstreamId": "32372|32379|32381", "text": "Bone mineral density variation quantitative trait locus" }, { - "baseId": "32374", + "upstreamId": "32374", "text": "Osteogenesis imperfecta type 2, thin-bone" }, { - "baseId": "32382", + "upstreamId": "32382", "text": "Fragile skin" }, { - "baseId": "32382|263274|264319|360939|360978|513917|513990|514027|514084", + "upstreamId": "32382|263274|264319|360939|360978|513917|513990|514027|514084", "text": "Joint hypermobility" }, { - "baseId": "32382", + "upstreamId": "32382", "text": "Bruising susceptibility" }, { - "baseId": 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+ "upstreamId": "32386|44561|44568|44579|44582|44586|44594|48035|192612|193168|193768|194657|195079|215539|227394|237223|256273|256274|256275|256278|265559|266015|267843|268771|269476|270586|271303|273413|311991|329115|329116|329117|329118|329119|329120|329121|329125|329132|329133|329136|329137|329142|329144|329145|329146|329147|329148|329152|339233|339234|339236|339242|339244|339247|339248|339253|339256|339258|339269|339270|339272|339284|339288|339290|339292|339298|345133|345136|345137|345141|345143|345144|345151|345153|345154|345156|345157|345158|345159|345162|345163|345166|345170|346514|346516|346519|346527|346528|346530|346533|346537|346539|346540|346545|346547|346548|346549|346556|346557|346561|346565|346566|346569|376210|376306|378450|410074|414011|441977|441985|468197|468451|506041|506210|506546|506952|531261|538242|623348|694122|694124|695759|704212|704214|715541|845630|877916|877917|877918|877919|877920|877921|877922|877923|877924|877925|877926|877927|877928|877929|877930|877931|877932|877933|877934|877935|877936|877937|877938|877939|877940|877941|877942|877943|877944|877945|880547|880548|880549|880550|961335|971083", "text": "Infantile cortical hyperostosis" }, { - "baseId": "32387|360337|410071|414026", + "upstreamId": "32387|360337|410071|414026", "text": "COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1" }, { - "baseId": 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+ "upstreamId": 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"text": "Spondyloepiphyseal dysplasia congenita" }, { - "baseId": "32391|32396|32398", + "upstreamId": "32391|32396|32398", "text": "Hypochondrogenesis" }, { - "baseId": "32392", + "upstreamId": "32392", "text": "Namaqualand hip dysplasia" }, { - "baseId": "32394|32397|32399|32404|32407|32412|32413|32421|32422|32423|32434|32437|99689|99690|99691|99692|177632|192310|194050|194592|194664|195109|195632|247081|254527|254529|254530|254531|254533|254534|254535|254540|254542|254543|254545|254548|254552|254554|254555|254556|254558|254559|254562|254563|254566|267804|267844|268275|269225|270512|271988|317256|317257|317259|317260|317264|317265|317266|317270|317272|317277|317278|324975|324976|324977|324987|324995|325000|325001|325004|325007|325014|325016|325017|325018|325020|325021|325022|325023|331093|331121|331130|331131|331132|331136|331137|331156|331162|331166|331169|331171|332678|332679|332683|332685|332690|332693|373063|390689|408664|421923|445007|503887|504176|504204|504206|504216|504453|504905|511011|537881|537882|537883|537884|537886|537887|537890|537892|537894|537897|537899|584158|585420|587799|589804|612192|623309|677295|679785|769129|791237|791238|791239|791240|791241|791242|791243|798655|839947|869891|869892|869893|869894|869895|869896|869897|869898|869899|869900|869901|869902|869903|869904|869905|869906|872244|872245|872246|872247|872248|872249|956878|976030", + "upstreamId": "32394|32397|32399|32404|32407|32412|32413|32421|32422|32423|32434|32437|99689|99690|99691|99692|177632|192310|194050|194592|194664|195109|195632|247081|254527|254529|254530|254531|254533|254534|254535|254540|254542|254543|254545|254548|254552|254554|254555|254556|254558|254559|254562|254563|254566|267804|267844|268275|269225|270512|271988|317256|317257|317259|317260|317264|317265|317266|317270|317272|317277|317278|324975|324976|324977|324987|324995|325000|325001|325004|325007|325014|325016|325017|325018|325020|325021|325022|325023|331093|331121|331130|331131|331132|331136|331137|331156|331162|331166|331169|331171|332678|332679|332683|332685|332690|332693|373063|390689|408664|421923|445007|503887|504176|504204|504206|504216|504453|504905|511011|537881|537882|537883|537884|537886|537887|537890|537892|537894|537897|537899|584158|585420|587799|589804|612192|623309|677295|679785|769129|791237|791238|791239|791240|791241|791242|791243|798655|839947|869891|869892|869893|869894|869895|869896|869897|869898|869899|869900|869901|869902|869903|869904|869905|869906|872244|872245|872246|872247|872248|872249|956878|976030", "text": "Stickler syndrome type 1" }, { - "baseId": "32401|32408|32409|32414|32415|433418|590305|612355", + "upstreamId": "32401|32408|32409|32414|32415|433418|590305|612355", "text": "Kniest dysplasia" }, { - "baseId": "32402|32406|32416|32417|32436|329273|353209|405614|411544|411545|411546|411547|411548|411549|443163|445013|540474|540475|540476|790195", + "upstreamId": "32402|32406|32416|32417|32436|329273|353209|405614|411544|411545|411546|411547|411548|411549|443163|445013|540474|540475|540476|790195", "text": "Spondylometaphyseal dysplasia" }, { - "baseId": "32403|32423|32425|32438|32439|32440|32441|624858", + "upstreamId": "32403|32423|32425|32438|32439|32440|32441|624858", "text": "Stickler syndrome, type I, nonsyndromic ocular" }, { - "baseId": "32405|32419|32424|32428|32430|32431|192903|818297", + "upstreamId": "32405|32419|32424|32428|32430|32431|192903|818297", "text": "Spondyloperipheral dysplasia-short ulna syndrome" }, { - "baseId": "32407", + "upstreamId": "32407", "text": "Czech dysplasia, metatarsal type" }, { - "baseId": "32410|32411|32422|32427|32442|360944|360945|432309|433421|481353|621380|621823|672024|919435|919436|919437|920316|920317", + "upstreamId": "32410|32411|32422|32427|32442|360944|360945|432309|433421|481353|621380|621823|672024|919435|919436|919437|920316|920317", "text": "Achondrogenesis type II" }, { - "baseId": "32418", + "upstreamId": "32418", "text": "Epiphyseal dysplasia, multiple, with myopia and conductive deafness" }, { - "baseId": "32422|861640", + "upstreamId": "32422|861640", "text": "COL2A1-related disorders" }, { - "baseId": "32426", + "upstreamId": "32426", "text": "Vitreoretinopathy with phalangeal epiphyseal dysplasia" }, { - "baseId": "32428|32429|152979", + "upstreamId": "32428|32429|152979", "text": "Platyspondylic dysplasia, Torrance type" }, { - "baseId": "32432|32433|38591", + "upstreamId": "32432|32433|38591", "text": "Avascular necrosis of the head of femur" }, { - "baseId": "32432|47638|263185", + "upstreamId": "32432|47638|263185", "text": "Coxa plana" }, { - "baseId": "32434|32435", + "upstreamId": "32434|32435", "text": "Rhegmatogenous retinal detachment, autosomal dominant" }, { - "baseId": "32443|32444|32445|32446|32447|32448|32522|32523|32523|32524|32527|32529|32531|189115|190092|215249|223747|223748|227237|227238|250592|250601|250602|250603|250620|250623|250625|250629|250632|250635|250636|250639|260782|260782|260783|272152|285700|285718|288037|288064|288464|354160|357246|357247|360796|384400|384400|384476|405642|417659|432282|432283|432284|432285|432286|434902|438587|440658|440665|440666|440667|440669|440670|440679|440682|440687|443176|443177|443180|443181|486961|491213|491213|492678|513025|513026|513039|513039|513923|541801|541802|541804|541808|541809|541810|541811|541812|541813|541819|541821|541826|541837|541839|541842|541843|541845|541846|541850|541858|541859|541860|541861|541864|541865|541867|541869|541870|541872|541878|541880|541881|541882|541884|541886|541889|541891|541893|541895|541897|541898|541901|541902|541903|541904|541906|541907|541908|541909|541911|541913|541914|541916|541918|541919|541920|541921|541922|541923|541925|541928|541929|541930|541931|541932|541933|541934|541935|541936|541938|541939|541944|541946|541948|541951|541953|541954|541956|541957|541962|541964|541966|541967|541968|541970|541972|541974|541975|541978|541981|541982|541983|541984|541985|541987|541988|541990|541991|541992|541994|541996|541997|541999|542000|542001|542002|542003|542004|542005|542007|542008|542009|542010|542010|542011|542014|542016|542017|542018|542019|542020|542021|542022|542023|542025|542028|542030|542032|542034|542036|542038|542039|542040|542043|542046|542051|542052|542054|542056|542058|542060|542062|542064|542065|542068|542071|542073|542079|542083|542094|542095|542099|542103|542106|542111|542121|542123|542125|542126|542131|542133|542135|542136|542140|542142|542157|542159|542161|542164|542166|542168|542170|542172|542177|542180|553637|576666|590250|590262|609307|611565|612080|612081|622521|622522|623263|623264|625789|790203|790204|794007|798499|798500|798501|798502|798503|798504|798505|798506|800391|801546|801556|801557|804846|825808|858522|858523|858527|858530|858540|904076|920534|922592|962671|962672|962673|962674|962675|962676|962677|962678|962679|962680|962681|962682|962683|962685|962687|962691|962825|962826|962827|962828|962829|963124|964811|970736|970737|971743|971744|971745|971746|971747|971748|971749|971750|971751|971752|971753|971754|971755|971756|971757|971758|971759|971760|971761|971762|971763|971764|971765|971766|971767|971768|971769|971770|971771|971772|971773|971774|971775|971776|971777|971778|971779|971780|971781|971782|971783|971784|971785|971786|980308|980309|980311|980560", + "upstreamId": "32443|32444|32445|32446|32447|32448|32522|32523|32523|32524|32527|32529|32531|189115|190092|215249|223747|223748|227237|227238|250592|250601|250602|250603|250620|250623|250625|250629|250632|250635|250636|250639|260782|260782|260783|272152|285700|285718|288037|288064|288464|354160|357246|357247|360796|384400|384400|384476|405642|417659|432282|432283|432284|432285|432286|434902|438587|440658|440665|440666|440667|440669|440670|440679|440682|440687|443176|443177|443180|443181|486961|491213|491213|492678|513025|513026|513039|513039|513923|541801|541802|541804|541808|541809|541810|541811|541812|541813|541819|541821|541826|541837|541839|541842|541843|541845|541846|541850|541858|541859|541860|541861|541864|541865|541867|541869|541870|541872|541878|541880|541881|541882|541884|541886|541889|541891|541893|541895|541897|541898|541901|541902|541903|541904|541906|541907|541908|541909|541911|541913|541914|541916|541918|541919|541920|541921|541922|541923|541925|541928|541929|541930|541931|541932|541933|541934|541935|541936|541938|541939|541944|541946|541948|541951|541953|541954|541956|541957|541962|541964|541966|541967|541968|541970|541972|541974|541975|541978|541981|541982|541983|541984|541985|541987|541988|541990|541991|541992|541994|541996|541997|541999|542000|542001|542002|542003|542004|542005|542007|542008|542009|542010|542010|542011|542014|542016|542017|542018|542019|542020|542021|542022|542023|542025|542028|542030|542032|542034|542036|542038|542039|542040|542043|542046|542051|542052|542054|542056|542058|542060|542062|542064|542065|542068|542071|542073|542079|542083|542094|542095|542099|542103|542106|542111|542121|542123|542125|542126|542131|542133|542135|542136|542140|542142|542157|542159|542161|542164|542166|542168|542170|542172|542177|542180|553637|576666|590250|590262|609307|611565|612080|612081|622521|622522|623263|623264|625789|790203|790204|794007|798499|798500|798501|798502|798503|798504|798505|798506|800391|801546|801556|801557|804846|825808|858522|858523|858527|858530|858540|904076|920534|922592|962671|962672|962673|962674|962675|962676|962677|962678|962679|962680|962681|962682|962683|962685|962687|962691|962825|962826|962827|962828|962829|963124|964811|970736|970737|971743|971744|971745|971746|971747|971748|971749|971750|971751|971752|971753|971754|971755|971756|971757|971758|971759|971760|971761|971762|971763|971764|971765|971766|971767|971768|971769|971770|971771|971772|971773|971774|971775|971776|971777|971778|971779|971780|971781|971782|971783|971784|971785|971786|980308|980309|980311|980560", "text": "Alport syndrome, autosomal recessive" }, { - "baseId": "32445|32446|32449|32450|32523|32528|32529|223746|223749|223751|223752|223753|227238|250602|260782|354160|384400|440679|443177|491213|492678|513039|513040|541826|541837|541843|542010|553512|615935|622856|625789|825808|858524|858525|858526|858528|858529|858531|858539|918744|920171|952958|960993|960994|962684|963348|963349|963350|963351|963352|963353|964810|974566|980312", + "upstreamId": "32445|32446|32449|32450|32523|32528|32529|223746|223749|223751|223752|223753|227238|250602|260782|354160|384400|440679|443177|491213|492678|513039|513040|541826|541837|541843|542010|553512|615935|622856|625789|825808|858524|858525|858526|858528|858529|858531|858539|918744|920171|952958|960993|960994|962684|963348|963349|963350|963351|963352|963353|964810|974566|980312", "text": "Benign familial hematuria" }, { - "baseId": "32446|32523|32528|32530|32531|223748|226605|226606|226607|227238|250602|250620|250629|250632|250635|250636|250639|260782|260782|260783|260784|272152|285064|285080|285088|285089|285094|285700|285728|288002|288050|288064|288414|288415|288421|288464|354161|354162|354163|354164|354165|384400|384473|384475|384476|405643|432287|432288|432289|440679|440681|443177|443181|491213|492678|492678|513027|513028|513029|513030|513031|513032|513033|513034|513035|513037|513038|513039|513039|513040|513040|513041|513042|513043|541801|541808|541826|541850|541860|541884|541903|541913|541999|542001|542004|542010|542014|542038|542039|542043|542065|542099|553611|586060|590240|590241|590242|590243|590244|590245|590246|590247|590248|590249|590250|590251|590252|590254|590255|590256|590257|590258|590259|590260|590261|590262|590263|590264|590265|590266|590267|590268|590452|614513|623181|623253|623254|623255|623256|623257|623258|623259|623260|623261|623262|623263|623264|623265|623266|623267|623268|623269|654252|654260|654261|655430|672019|679514|733239|763019|763022|781219|790204|798504|800832|804846|818183|818184|818185|818186|818187|818188|818189|818190|818191|818192|818193|818194|818195|818196|818197|818198|818199|818200|818201|818202|818203|818204|818205|818206|818207|818208|818209|818210|818211|818212|825808|858524|858525|858526|858528|858529|858531|858539|918745|918746|918747|962686|962688|962689|962690|962692|962827|963354|980307|980310|980313|980314", + "upstreamId": "32446|32523|32528|32530|32531|223748|226605|226606|226607|227238|250602|250620|250629|250632|250635|250636|250639|260782|260782|260783|260784|272152|285064|285080|285088|285089|285094|285700|285728|288002|288050|288064|288414|288415|288421|288464|354161|354162|354163|354164|354165|384400|384473|384475|384476|405643|432287|432288|432289|440679|440681|443177|443181|491213|492678|492678|513027|513028|513029|513030|513031|513032|513033|513034|513035|513037|513038|513039|513039|513040|513040|513041|513042|513043|541801|541808|541826|541850|541860|541884|541903|541913|541999|542001|542004|542010|542014|542038|542039|542043|542065|542099|553611|586060|590240|590241|590242|590243|590244|590245|590246|590247|590248|590249|590250|590251|590252|590254|590255|590256|590257|590258|590259|590260|590261|590262|590263|590264|590265|590266|590267|590268|590452|614513|623181|623253|623254|623255|623256|623257|623258|623259|623260|623261|623262|623263|623264|623265|623266|623267|623268|623269|654252|654260|654261|655430|672019|679514|733239|763019|763022|781219|790204|798504|800832|804846|818183|818184|818185|818186|818187|818188|818189|818190|818191|818192|818193|818194|818195|818196|818197|818198|818199|818200|818201|818202|818203|818204|818205|818206|818207|818208|818209|818210|818211|818212|825808|858524|858525|858526|858528|858529|858531|858539|918745|918746|918747|962686|962688|962689|962690|962692|962827|963354|980307|980310|980313|980314", "text": "Alport syndrome 3, autosomal dominant" }, { - "baseId": "32451|32452|32453|32454|32455|32456|32460|32461|136540|171276|171277|171696|171697|171698|171699|190381|192972|193029|193111|193488|193489|194108|194680|194681|194704|195633|205773|254794|254795|254797|254798|254799|254800|254801|254802|254803|254805|254806|254808|254809|254810|254811|254813|254814|273865|318892|318893|318894|318895|318899|318906|318910|318911|318913|318916|318920|318921|318923|327278|327279|327289|327290|327292|327293|327294|327295|327297|327301|327304|327306|327307|327319|327322|327323|327327|327333|327334|327335|327336|333425|333434|333441|333446|333448|333454|333455|333471|333474|333481|333482|333483|333493|333499|333503|333505|333510|333515|333526|333527|333536|333537|333538|335132|335137|335147|335149|335152|335163|335173|335180|335181|335182|335183|335186|335193|335196|335197|335211|335212|335213|335223|335226|335229|335231|335235|335237|373299|408786|429479|434400|441572|552166|576156|577296|587357|693326|725365|725369|725370|738938|760068|769398|769400|784524|798665|815998|855113|870685|870686|870687|870688|870689|870690|870691|870692|870693|870694|870695|870696|870697|870698|870699|870700|870701|870702|870703|870704|870705|870706|870707|870708|870709|870710|870711|870712|870713|870714|870715|870716|872302|872303|872304|872305|919479|919480|919481|919482|919483|964856|965288|966163|970527|970543|971517|980947", + "upstreamId": "32451|32452|32453|32454|32455|32456|32460|32461|136540|171276|171277|171696|171697|171698|171699|190381|192972|193029|193111|193488|193489|194108|194680|194681|194704|195633|205773|254794|254795|254797|254798|254799|254800|254801|254802|254803|254805|254806|254808|254809|254810|254811|254813|254814|273865|318892|318893|318894|318895|318899|318906|318910|318911|318913|318916|318920|318921|318923|327278|327279|327289|327290|327292|327293|327294|327295|327297|327301|327304|327306|327307|327319|327322|327323|327327|327333|327334|327335|327336|333425|333434|333441|333446|333448|333454|333455|333471|333474|333481|333482|333483|333493|333499|333503|333505|333510|333515|333526|333527|333536|333537|333538|335132|335137|335147|335149|335152|335163|335173|335180|335181|335182|335183|335186|335193|335196|335197|335211|335212|335213|335223|335226|335229|335231|335235|335237|373299|408786|429479|434400|441572|552166|576156|577296|587357|693326|725365|725369|725370|738938|760068|769398|769400|784524|798665|815998|855113|870685|870686|870687|870688|870689|870690|870691|870692|870693|870694|870695|870696|870697|870698|870699|870700|870701|870702|870703|870704|870705|870706|870707|870708|870709|870710|870711|870712|870713|870714|870715|870716|872302|872303|872304|872305|919479|919480|919481|919482|919483|964856|965288|966163|970527|970543|971517|980947", "text": "Brain small vessel disease 1 with or without ocular anomalies" }, { - "baseId": "32457|32458|32459|33501|33502|33503|48462|171696|190381|192972|193029|193111|193488|193489|194108|194680|194681|194704|195633|254794|254795|254797|254798|254799|254800|254801|254802|254803|254805|254806|254808|254809|254810|254811|254812|254813|254814|318892|318893|318894|318895|318899|318906|318910|318911|318913|318916|318920|318921|318923|327277|327278|327279|327289|327290|327292|327293|327294|327295|327297|327301|327304|327305|327306|327307|327319|327322|327323|327327|327333|327334|327335|327336|327337|327338|333425|333427|333434|333441|333446|333448|333454|333455|333471|333474|333481|333482|333483|333493|333496|333499|333503|333505|333510|333515|333526|333527|333536|333537|333538|333543|333546|333555|335132|335137|335147|335149|335152|335163|335173|335180|335181|335182|335183|335186|335193|335196|335197|335211|335212|335213|335223|335226|335229|335230|335231|335235|335237|335248|353263|373299|408786|441572|513327|576156|577296|587357|615944|693326|725365|725369|725370|738938|760068|769398|769400|784524|791294|798666|801890|870685|870686|870687|870688|870689|870690|870691|870692|870693|870694|870695|870696|870697|870698|870699|870700|870701|870702|870703|870704|870705|870706|870707|870708|870709|870710|870711|870712|870713|870714|870715|870716|872302|872303|872304|872305|962732|962733|962734|962735|963364", + "upstreamId": "32457|32458|32459|33501|33502|33503|48462|171696|190381|192972|193029|193111|193488|193489|194108|194680|194681|194704|195633|254794|254795|254797|254798|254799|254800|254801|254802|254803|254805|254806|254808|254809|254810|254811|254812|254813|254814|318892|318893|318894|318895|318899|318906|318910|318911|318913|318916|318920|318921|318923|327277|327278|327279|327289|327290|327292|327293|327294|327295|327297|327301|327304|327305|327306|327307|327319|327322|327323|327327|327333|327334|327335|327336|327337|327338|333425|333427|333434|333441|333446|333448|333454|333455|333471|333474|333481|333482|333483|333493|333496|333499|333503|333505|333510|333515|333526|333527|333536|333537|333538|333543|333546|333555|335132|335137|335147|335149|335152|335163|335173|335180|335181|335182|335183|335186|335193|335196|335197|335211|335212|335213|335223|335226|335229|335230|335231|335235|335237|335248|353263|373299|408786|441572|513327|576156|577296|587357|615944|693326|725365|725369|725370|738938|760068|769398|769400|784524|791294|798666|801890|870685|870686|870687|870688|870689|870690|870691|870692|870693|870694|870695|870696|870697|870698|870699|870700|870701|870702|870703|870704|870705|870706|870707|870708|870709|870710|870711|870712|870713|870714|870715|870716|872302|872303|872304|872305|962732|962733|962734|962735|963364", "text": "Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps" }, { - "baseId": "32460|47565|139371|190381|193111|193488|193489|194680|194681|194704|195633|205773|254794|254795|254797|254798|254800|254801|254802|254803|254806|254808|254809|254810|254811|254812|254813|318892|318913|318916|327277|327279|327293|327294|327297|327304|327305|327306|327307|327322|327323|327327|327333|327335|327336|327337|327338|333425|333427|333441|333446|333448|333454|333455|333474|333481|333493|333496|333499|333503|333505|333526|333527|333543|333546|333555|335137|335147|335182|335183|335186|335193|335211|335223|335226|335229|335230|335231|335237|335248|353263|361208|576156|624862|693325|861060|977263", + "upstreamId": "32460|47565|139371|190381|193111|193488|193489|194680|194681|194704|195633|205773|254794|254795|254797|254798|254800|254801|254802|254803|254806|254808|254809|254810|254811|254812|254813|318892|318913|318916|327277|327279|327293|327294|327297|327304|327305|327306|327307|327322|327323|327327|327333|327335|327336|327337|327338|333425|333427|333441|333446|333448|333454|333455|333474|333481|333493|333496|333499|333503|333505|333526|333527|333543|333546|333555|335137|335147|335182|335183|335186|335193|335211|335223|335226|335229|335230|335231|335237|335248|353263|361208|576156|624862|693325|861060|977263", "text": "Brain small vessel disease with hemorrhage" }, { - "baseId": "32462|32464|32465|32466|32467|32474|32482|32484|32485|32486|32488|32495|32497|32498|32499|32501|38590|166069|178859|178860|209348|217190|227262|227263|227264|251197|251203|264139|264158|264183|359454|359487|359560|359567|360853|411519|411520|411521|411522|411523|481232|481696|513263|581699|611590|612128|612188|612265|622742|677289|790400|790401|792701|792739|794091|970171|970200|970201", + "upstreamId": "32462|32464|32465|32466|32467|32474|32482|32484|32485|32486|32488|32495|32497|32498|32499|32501|38590|166069|178859|178860|209348|217190|227262|227263|227264|251197|251203|264139|264158|264183|359454|359487|359560|359567|360853|411519|411520|411521|411522|411523|481232|481696|513263|581699|611590|612128|612188|612265|622742|677289|790400|790401|792701|792739|794091|970171|970200|970201", "text": "Recessive dystrophic epidermolysis bullosa" }, { - "baseId": "32463|32477|32486|32487|32488|32489|32492|32496|32502|227262|227263|227264|295467|361178|720511|720516|720518|734129|763958|763968|763971|763975|774826|774881|781715|792739", + "upstreamId": "32463|32477|32486|32487|32488|32489|32492|32496|32502|227262|227263|227264|295467|361178|720511|720516|720518|734129|763958|763968|763971|763975|774826|774881|781715|792739", "text": "Generalized dominant dystrophic epidermolysis bullosa" }, { - "baseId": "32468|32477|792701|794091", + "upstreamId": "32468|32477|792701|794091", "text": "Pretibial epidermolysis bullosa" }, { - "baseId": "32469|166069", + "upstreamId": "32469|166069", "text": "Dominant dystrophic epidermolysis bullosa with absence of skin" }, { - "baseId": "32470|32471|32472|32473", + "upstreamId": "32470|32471|32472|32473", "text": "Epidermolysis bullosa dystrophica, autosomal recessive, localisata variant" }, { - "baseId": "32470|32472|32479|32480|32493", + "upstreamId": "32470|32472|32479|32480|32493", "text": "Epidermolysis bullosa pruriginosa, autosomal recessive" }, { - "baseId": "32475|32476|32500|38589|359584", + "upstreamId": "32475|32476|32500|38589|359584", "text": "Transient bullous dermolysis of the newborn" }, { - "baseId": "32475|32482|32486|166069", + "upstreamId": "32475|32482|32486|166069", "text": "Nail disorder, nonsyndromic congenital, 8" }, { - "baseId": "32475|32478|32481|32494", + "upstreamId": "32475|32478|32481|32494", "text": "Epidermolysis bullosa pruriginosa, autosomal dominant" }, { - "baseId": "32484|32490|32491", + "upstreamId": "32484|32490|32491", "text": "Epidermolysis bullosa, pretibial, autosomal recessive" }, { - "baseId": "32493|32501|32502|38587|38588|38590|86021|209348|227264|259767|259771|291947|295198|295238|295241|295310|295332|295334|295482|295565|359480|359486|359487|359566|359567|359584|421449|425565|443474|443477|481696|481697|494081|495459|651076|698155|708910|708911|708912|708914|708916|720512|720517|734131|734132|734133|734135|734137|734138|734139|734140|744071|748331|748333|748338|748341|748347|748349|748354|759312|759322|759329|759440|763957|763959|763963|763966|763967|763974|763976|763977|763978|763980|763987|763990|763994|774836|774838|774842|778985|779152|781697|781701|781721|787326|794091|795445|889266|889267|889269|889271|889279|889289|889297|889323|889326|903527|977844|977845|977846|977847|977848|977849|977850|977851|977852|977853|977854|977855|977856|977857|977858|977859|977860|977861|977862|977863|977864|977865|977866|977867|977868|977869|977870|977871|977872|977873|977874|977875|977876|977877|977878|977879|977880|977881|977882|977883|977884|977885|977886|977887|977888|977889|977890|977891|977892|977893|977894|977895|977896|977897|977898|977899|977900|977901|977902|977903|977904|977905|977906|977907|977908|977909|977910|977911|977912|977913|977914|977915|977916|977917|977918|977919|977920|977921|977922|977923|977924|977925|977926|977927|977928|977929|977930|977931|977932|977933|977934|977935|977936|977937|977938|977939|977940|977941|977942|977943|977944|977945|977946|977947|977948|977949|977950|977951|977952|977953|977954|977955|977956|977957|977958|977959|977960|977961|977962|977963|977964|977965|977966|977967|977968|977969|977970|977971|977972|977973|977974", + "upstreamId": "32493|32501|32502|38587|38588|38590|86021|209348|227264|259767|259771|291947|295198|295238|295241|295310|295332|295334|295482|295565|359480|359486|359487|359566|359567|359584|421449|425565|443474|443477|481696|481697|494081|495459|651076|698155|708910|708911|708912|708914|708916|720512|720517|734131|734132|734133|734135|734137|734138|734139|734140|744071|748331|748333|748338|748341|748347|748349|748354|759312|759322|759329|759440|763957|763959|763963|763966|763967|763974|763976|763977|763978|763980|763987|763990|763994|774836|774838|774842|778985|779152|781697|781701|781721|787326|794091|795445|889266|889267|889269|889271|889279|889289|889297|889323|889326|903527|977844|977845|977846|977847|977848|977849|977850|977851|977852|977853|977854|977855|977856|977857|977858|977859|977860|977861|977862|977863|977864|977865|977866|977867|977868|977869|977870|977871|977872|977873|977874|977875|977876|977877|977878|977879|977880|977881|977882|977883|977884|977885|977886|977887|977888|977889|977890|977891|977892|977893|977894|977895|977896|977897|977898|977899|977900|977901|977902|977903|977904|977905|977906|977907|977908|977909|977910|977911|977912|977913|977914|977915|977916|977917|977918|977919|977920|977921|977922|977923|977924|977925|977926|977927|977928|977929|977930|977931|977932|977933|977934|977935|977936|977937|977938|977939|977940|977941|977942|977943|977944|977945|977946|977947|977948|977949|977950|977951|977952|977953|977954|977955|977956|977957|977958|977959|977960|977961|977962|977963|977964|977965|977966|977967|977968|977969|977970|977971|977972|977973|977974", "text": "Epidermolysis bullosa dystrophica inversa, autosomal recessive" }, { - "baseId": "32502|360805|360853|513896|513947", + "upstreamId": "32502|360805|360853|513896|513947", "text": "Abnormal blistering of the skin" }, { - "baseId": "32502|38590|251195|360852|360853|792701|794091|918837|918838|918839|918841|920196", + "upstreamId": "32502|38590|251195|360852|360853|792701|794091|918837|918838|918839|918841|920196", "text": "Epidermolysis bullosa pruriginosa" }, { - "baseId": "32503|32504|32505|32506|32507|32508|32509|32510|32511|32512|32513|32514|32515|32516|32517|32518|32519|32520|32521|38586|192239|252058|252059|252060|252061|265673|298776|298782|298783|298784|298786|298787|298795|298796|298811|301232|301233|301234|301240|301241|301244|301245|301246|301260|301263|305602|305603|305606|305611|305619|305630|305635|305636|305639|305640|305645|305655|305707|305710|305712|305718|305719|305720|305722|305724|305730|305731|305771|537498|538993|735369|735370|749764|788790|790575|831458|895199|895200|895201|895202|895203|895204|895205|895206|895207|895208|895209|895210|895211|895212|895213|895214|895215|895216|895217|895218|895219|895220|895221|895222|895223|918993|964266", + "upstreamId": "32503|32504|32505|32506|32507|32508|32509|32510|32511|32512|32513|32514|32515|32516|32517|32518|32519|32520|32521|38586|192239|252058|252059|252060|252061|265673|298776|298782|298783|298784|298786|298787|298795|298796|298811|301232|301233|301234|301240|301241|301244|301245|301246|301260|301263|305602|305603|305606|305611|305619|305630|305635|305636|305639|305640|305645|305655|305707|305710|305712|305718|305719|305720|305722|305724|305730|305731|305771|537498|538993|735369|735370|749764|788790|790575|831458|895199|895200|895201|895202|895203|895204|895205|895206|895207|895208|895209|895210|895211|895212|895213|895214|895215|895216|895217|895218|895219|895220|895221|895222|895223|918993|964266", "text": "Metaphyseal chondrodysplasia, Schmid type" }, { - "baseId": "32532", + "upstreamId": "32532", "text": "CILIARY NEUROTROPHIC FACTOR POLYMORPHISM" }, { - "baseId": 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+ "upstreamId": 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"text": "Wagner syndrome" }, { - "baseId": "32534|32535|49454|49455|49456|49457|49458|140473|167983|167985|201029|201030|201034|404938|421172", + "upstreamId": "32534|32535|49454|49455|49456|49457|49458|140473|167983|167985|201029|201030|201034|404938|421172", "text": "Epilepsy, nocturnal frontal lobe, type 3" }, { - "baseId": 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+ "upstreamId": 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"text": "Autosomal dominant nocturnal frontal lobe epilepsy" }, { - "baseId": "32536|32542", + "upstreamId": "32536|32542", "text": "Lung cancer susceptibility 2" }, { - "baseId": "32536|32542", + "upstreamId": "32536|32542", "text": "Smoking as a quantitative trait locus 3" }, { - "baseId": "32536|32542", + "upstreamId": "32536|32542", "text": "nicotine response - Toxicity/ADR" }, { - "baseId": "32537|32538|32539|49451|49452|49453|99331|99332|99336|99337|104200|104211|104230|134196|203648|203649|203656|203676|203677|203679|203679|410787|446280|446280|507271|622472|973008", + "upstreamId": "32537|32538|32539|49451|49452|49453|99331|99332|99336|99337|104200|104211|104230|134196|203648|203649|203656|203676|203677|203679|203679|410787|446280|446280|507271|622472|973008", "text": "Epilepsy, nocturnal frontal lobe, type 1" }, { - "baseId": "32543|134185|134186|134187|134188|134189|134190|134191|140451|140452|140453|140454|140456|140457|202222|202233|202234|202235|202240|202262|202264|202266|202268|266386|273514|305017|305018|305024|305025|305026|305027|305031|305032|305035|305036|305040|305042|305044|305046|308734|308736|308738|308754|308756|308757|308758|308761|308777|308778|308780|313911|313912|313924|313926|313929|313930|313942|313945|313948|313951|313954|313955|313959|313961|313964|313971|313972|313977|313978|313982|313991|313997|313998|314001|314010|314020|314027|513196|523987|579376|614319|615938|637044|788826|899386|899387|899388|899389|899390|899391|899392|899393|899394|899395|899396|899397|899398|899399|899400|899401|899402|899403|899404|899405|899406|899407|899408|900475|919149|919150", + "upstreamId": "32543|134185|134186|134187|134188|134189|134190|134191|140451|140452|140453|140454|140456|140457|202222|202233|202234|202235|202240|202262|202264|202266|202268|266386|273514|305017|305018|305024|305025|305026|305027|305031|305032|305035|305036|305040|305042|305044|305046|308734|308736|308738|308754|308756|308757|308758|308761|308777|308778|308780|313911|313912|313924|313926|313929|313930|313942|313945|313948|313951|313954|313955|313959|313961|313964|313971|313972|313977|313978|313982|313991|313997|313998|314001|314010|314020|314027|513196|523987|579376|614319|615938|637044|788826|899386|899387|899388|899389|899390|899391|899392|899393|899394|899395|899396|899397|899398|899399|899400|899401|899402|899403|899404|899405|899406|899407|899408|900475|919149|919150", "text": "Epilepsy, nocturnal frontal lobe, type 4" }, { - "baseId": "32555|32556|32557|32558|32559|32560|32561|32562|38579|265180|323385|323386|323388|333049|333050|333056|339885|339886|339890|339897|339898|341298|341302|360206|390702|429719|620529|714598|739775|739776|754667|760362|874161|874162|874163|874164|874165|874166|874167|874168|876572|918401", + "upstreamId": "32555|32556|32557|32558|32559|32560|32561|32562|38579|265180|323385|323386|323388|333049|333050|333056|339885|339886|339890|339897|339898|341298|341302|360206|390702|429719|620529|714598|739775|739776|754667|760362|874161|874162|874163|874164|874165|874166|874167|874168|876572|918401", "text": "Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete" }, { - "baseId": 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"32568|32569", + "upstreamId": "32568|32569", "text": "CHOLECYSTOKININ A RECEPTOR POLYMORPHISM" }, { - "baseId": 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+ "upstreamId": 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"text": "Congenital myotonia, autosomal recessive form" }, { - "baseId": 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+ "upstreamId": 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"text": "Congenital myotonia, autosomal dominant form" }, { - "baseId": "32571|32572|32576|32577|32578|32581|32584|32585|33889|33890|33891|33892|33893|33894|33895|33896|33897|33898|33899|33900|33901|33902|33903|33904|196430|204362|204363|205752|247017|247018|259852|264231|264314|273242|302023|302026|302027|302032|302034|302035|302037|302038|302041|302042|302045|302046|302048|302056|302060|302064|302068|305218|305219|305220|305224|305228|305230|305232|305233|305234|305245|309974|309984|309989|309993|310026|310027|310053|310054|310060|310061|310062|310073|310078|310079|310080|310082|310083|361025|368970|369251|441066|444077|456426|501892|501956|522627|564146|576937|620254|620798|635835|766139|897580|897581|897582|897583|897584|897585|897586|897587|897588|897589|897590|897591|897592|900322|900323|900324|900325|900326", + "upstreamId": 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"32578|205752|360888|361024|361025|361047|513943|513969|513970|624118", "text": "Myotonia" }, { - "baseId": "32584|32660|99159|360798|360803|360810|360873|361054|361094|513930", + "upstreamId": "32584|32660|99159|360798|360803|360810|360873|361054|361094|513930", "text": "EMG: myopathic abnormalities" }, { - "baseId": "32589|32590|32591|32592|32593|32594|32595|38577|38578|226408|226409|226410|226411|282965|282979|283809|283811|283815|283828|283831|283832|283835|285451|285464|285466|285468|285469|285846|285848|285849|285850|285865|550557|719420|732960|732961|762435|881631|881632|881633|881634|881635|881636|881637|881638|881639|881640|881641|881642|881643|881644|881645|881646|881647|881648|881649|881650|882855|882856|882857|918698|974510", + "upstreamId": 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"text": "Deficiency of ferroxidase" }, { - "baseId": "32598|32600|32602", + "upstreamId": "32598|32600|32602", "text": "Hemosiderosis, systemic, due to aceruloplasminemia" }, { - "baseId": "32599", + "upstreamId": "32599", "text": "Ceruloplasmin belfast" }, { - "baseId": "32601", + "upstreamId": "32601", "text": "Hypoceruloplasminemia" }, { - "baseId": "32603", + "upstreamId": "32603", "text": "Myotonic dystrophy type 2" }, { - "baseId": "32604", + "upstreamId": "32604", "text": "CIP1/WAF1 TUMOR-ASSOCIATED POLYMORPHISM 1" }, { - "baseId": "32612|32613|32614|106597|106598|134318|134320|134321|134322|134323|134324|134325|140743|140744|140745|140746|140749|140753|140758|140762|140763|140765|202527|202532|202549|202553|202554|205409|205410|254079|266966|271803|313434|313436|313437|313438|313451|313453|313463|313465|319532|319538|319540|319554|319559|319561|319567|319568|325715|325718|325726|325730|325731|325740|325741|325746|325747|326749|326764|362445|408313|564507|867649|867650|867651|867652|867653|867654|867655|867657|867658|867659|867660|867661|867662|867663|867664|867665|867668|867669|867670", + "upstreamId": "32612|32613|32614|106597|106598|134318|134320|134321|134322|134323|134324|134325|140743|140744|140745|140746|140749|140753|140758|140762|140763|140765|202527|202532|202549|202553|202554|205409|205410|254079|266966|271803|313434|313436|313437|313438|313451|313453|313463|313465|319532|319538|319540|319554|319559|319561|319567|319568|325715|325718|325726|325730|325731|325740|325741|325746|325747|326749|326764|362445|408313|564507|867649|867650|867651|867652|867653|867654|867655|867657|867658|867659|867660|867661|867662|867663|867664|867665|867668|867669|867670", "text": "Neuronal ceroid lipofuscinosis 10" }, { - "baseId": "32620|32621|46196|75719|75964|94472|139116|182970|212758|222763|240729|363111|363112|397224|401519|466629|611995|612007|612028", + "upstreamId": "32620|32621|46196|75719|75964|94472|139116|182970|212758|222763|240729|363111|363112|397224|401519|466629|611995|612007|612028", "text": "Craniopharyngioma" }, { - "baseId": "32622", + "upstreamId": "32622", "text": "ADRENAL CORTICAL NEOPLASM" }, { - "baseId": "32627|32628|363120|363121", + "upstreamId": "32627|32628|363120|363121", "text": "Disease" }, { - "baseId": "32630", + "upstreamId": "32630", "text": "CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM" }, { - "baseId": "32630", + "upstreamId": "32630", "text": "nicotine response - Efficacy" }, { - "baseId": "32630|227763", + "upstreamId": "32630|227763", "text": "tramadol response - Dosage, Efficacy" }, { - "baseId": "32630|227763", + "upstreamId": "32630|227763", "text": "methadone response - Dosage, Efficacy" }, { - "baseId": "32630|227763", + "upstreamId": "32630|227763", "text": "morphine response - Dosage, Efficacy" }, { - "baseId": "32630|227763", + "upstreamId": "32630|227763", "text": "opioids response - Dosage, Efficacy" }, { - "baseId": "32630|227763", + "upstreamId": "32630|227763", "text": "oxycodone response - Dosage, Efficacy" }, { - "baseId": "32630", + "upstreamId": "32630", "text": "remifentanil response - Dosage, Efficacy" }, { - "baseId": "32630", + "upstreamId": "32630", "text": "sufentanil response - Dosage, Efficacy" }, { - "baseId": "32632|32633|32634|32635|32636|32637|88451|192253|194322|195903|195904|207611|207612|253298|253301|253302|253303|306801|306802|306804|306820|310942|310944|310945|310966|310967|316538|316550|316553|316554|316555|316560|316562|316569|316788|316810|316811|316824|316825|316826|316831|316832|316843|316849|369697|428911|428912|428913|744514|751398|901053|901054|901055|901056|901057|901058|901059|901060|901061|901062|901063|901064|901065|901066|901067|901068|901069|901070|901071|901072|901073|901074|901075|901076|901077|901078|901079|901080|901081|901082|903313", + "upstreamId": 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ALTERED, CES1-RELATED" }, { - "baseId": "32643|38574|513213|551618|919162", + "upstreamId": "32643|38574|513213|551618|919162", "text": "Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3" }, { - "baseId": "32644", + "upstreamId": "32644", "text": "Carbonic anhydrase I, Guam" }, { - "baseId": "32645", + "upstreamId": "32645", "text": "Carbonic anhydrase I deficiency" }, { - "baseId": "32646|32647|32648|439256", + "upstreamId": "32646|32647|32648|439256", "text": "Retinitis pigmentosa 17" }, { - "baseId": 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"text": "Limb-girdle muscular dystrophy, type 2A" }, { - "baseId": "32653|32660|177281|213634|213819|213824|226480|266731|267496|270829|270837|270838|271368|273609|488605|489691|919569", + "upstreamId": "32653|32660|177281|213634|213819|213824|226480|266731|267496|270829|270837|270838|271368|273609|488605|489691|919569", "text": "Muscular dystrophy, limb-girdle, autosomal dominant 4" }, { - "baseId": "32657", + "upstreamId": "32657", "text": "Myositis, eosinophilic" }, { - "baseId": 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"text": "Limb-Girdle Muscular Dystrophy, Recessive" }, { - "baseId": "32660|32660|32660|360873|361094|969271", + "upstreamId": "32660|32660|32660|360873|361094|969271", "text": "Shoulder girdle muscle weakness" }, { - "baseId": "32660|271861|514133", + "upstreamId": "32660|271861|514133", "text": "Calf muscle hypertrophy" }, { - "baseId": "32660|265299", + "upstreamId": "32660|265299", "text": "Elbow flexion contracture" }, { - "baseId": "32660|265299", + "upstreamId": "32660|265299", "text": "Contractures of the joints of the lower limbs" }, { - "baseId": "32660|99159|101352|171050|172242|172253|191616|264319|360804|360821|361045|361046|361054|551426|676967", + "upstreamId": "32660|99159|101352|171050|172242|172253|191616|264319|360804|360821|361045|361046|361054|551426|676967", "text": "Congenital muscular dystrophy" }, { - "baseId": "32660|99791|198685|361040|361070", + "upstreamId": "32660|99791|198685|361040|361070", "text": "Limb-girdle muscle weakness" }, { - "baseId": "32660|514049", + "upstreamId": "32660|514049", "text": "Absent Achilles reflex" }, { - "baseId": 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+ "upstreamId": 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"text": "Malignant hyperthermia, susceptibility to, 5" }, { - "baseId": "32671|32672|32673|78452|78453|99298|99329|140315|165528|178652|188519|188526|188530|188541|188542|188551|188574|188601|188608|188610|189343|189343|194127|194567|212999|236794|236794|258742|316516|316781|316790|324234|324278|330195|330349|331685|331818|373160|398923|462107|462982|527320|551787|565361|571766|625812|625813|641055|680050|791223|791224|919425|920315|961618|980501", + "upstreamId": "32671|32672|32673|78452|78453|99298|99329|140315|165528|178652|188519|188526|188530|188541|188542|188551|188574|188601|188608|188610|189343|189343|194127|194567|212999|236794|236794|258742|316516|316781|316790|324234|324278|330195|330349|331685|331818|373160|398923|462107|462982|527320|551787|565361|571766|625812|625813|641055|680050|791223|791224|919425|920315|961618|980501", "text": "Timothy syndrome" }, { - "baseId": "32671", + "upstreamId": "32671", "text": "CACNA1C-Related Disorders" }, { - "baseId": "32673|32674|78452|188519|188526|188610|189343|236794|462107|462982|527320|565361|571766|961618|980501", + "upstreamId": "32673|32674|78452|188519|188526|188610|189343|236794|462107|462982|527320|565361|571766|961618|980501", "text": "Brugada syndrome 3" }, { - "baseId": "32676", + "upstreamId": "32676", "text": "Calcitonin polymorphism" }, { - "baseId": "32677|32678|653832|653833|788901", + "upstreamId": "32677|32678|653832|653833|788901", "text": "Congenital hypotrichosis with juvenile macular dystrophy" }, { - "baseId": "32677|800604|800605", + "upstreamId": "32677|800604|800605", "text": "Hypotrichosis with juvenile macular dystrophy" }, { - "baseId": "32679|32680|99686|106447|191010|191011|265679|267814|269265|271578|326115|326116|326117|326118|326122|326126|326127|326130|326131|326133|326153|326154|335791|335798|335800|335801|335802|335807|335815|335823|335825|335827|342153|342154|342162|342166|342170|342172|342173|342177|342178|342182|342183|342184|342185|342186|342187|342188|342191|342193|342195|343674|343676|343681|343689|343691|343693|343694|343700|343707|343709|343710|343718|343720|343723|343724|343725|343727|343730|343731|343735|343736|438013|490886|490892|513362|588790|726753|740310|755332|771010|844118|875805|875806|875807|875808|875809|875810|875811|875812|875813|875814|875815|875816|875817|875818|875819|875820|875821|875822|875823|875824|875825|875826|875827|875828|875829|875830|875831|875832|875833|876706|876707|876708|876709|919673", + "upstreamId": "32679|32680|99686|106447|191010|191011|265679|267814|269265|271578|326115|326116|326117|326118|326122|326126|326127|326130|326131|326133|326153|326154|335791|335798|335800|335801|335802|335807|335815|335823|335825|335827|342153|342154|342162|342166|342170|342172|342173|342177|342178|342182|342183|342184|342185|342186|342187|342188|342191|342193|342195|343674|343676|343681|343689|343691|343693|343694|343700|343707|343709|343710|343718|343720|343723|343724|343725|343727|343730|343731|343735|343736|438013|490886|490892|513362|588790|726753|740310|755332|771010|844118|875805|875806|875807|875808|875809|875810|875811|875812|875813|875814|875815|875816|875817|875818|875819|875820|875821|875822|875823|875824|875825|875826|875827|875828|875829|875830|875831|875832|875833|876706|876707|876708|876709|919673", "text": "EEM syndrome" }, { - "baseId": "32681|32682|32683|429882|791652|791653|791654|804885", + "upstreamId": "32681|32682|32683|429882|791652|791653|791654|804885", "text": "Mental retardation, autosomal dominant 3" }, { - "baseId": "32684|32689", + "upstreamId": "32684|32689", "text": "Epidermolysis bullosa, junctional, localisata variant" }, { - "baseId": "32698", + "upstreamId": "32698", "text": "UCP1 POLYMORPHISM" }, { - "baseId": "32700|32701|32714|32714|32732|45982|46122|46150|50254|68798|68867|68894|69114|69232|69324|69436|69545|69596|69620|69706|69739|69880|69888|69923|70037|70118|70147|70247|70406|94602|97097|131092|151179|151518|180880|185052|185131|236066|242785|261965|402741|427542|478892|487936|531064|531347", + "upstreamId": "32700|32701|32714|32714|32732|45982|46122|46150|50254|68798|68867|68894|69114|69232|69324|69436|69545|69596|69620|69706|69739|69880|69888|69923|70037|70118|70147|70247|70406|94602|97097|131092|151179|151518|180880|185052|185131|236066|242785|261965|402741|427542|478892|487936|531064|531347", "text": "Pancreatic cancer 4" }, { - "baseId": "32700|32714|32732|45982|46027|46122|46150|46204|50254|68798|68801|68854|68867|68894|69114|69232|69324|69436|69545|69596|69620|69706|69739|69880|69888|69923|70037|70063|70118|70147|70247|70406|94602|97097|131092|151179|151518|185052|185131|205705|236066|242785|261965|402741|427542|478892|486720|487936|531064|531347", + "upstreamId": "32700|32714|32732|45982|46027|46122|46150|46204|50254|68798|68801|68854|68867|68894|69114|69232|69324|69436|69545|69596|69620|69706|69739|69880|69888|69923|70037|70063|70118|70147|70247|70406|94602|97097|131092|151179|151518|185052|185131|205705|236066|242785|261965|402741|427542|478892|486720|487936|531064|531347", "text": "Fanconi anemia, complementation group S" }, { - "baseId": "32710|45982|46102|46454|46545|67015|68797|69084|69166|69289|69528|70063|70235|70377|94834|102683|102720|133066|171076|171077|227553|246854|463554|550688|550695|550698|550707|550717|623687|969735", + "upstreamId": "32710|45982|46102|46454|46545|67015|68797|69084|69166|69289|69528|70063|70235|70377|94834|102683|102720|133066|171076|171077|227553|246854|463554|550688|550695|550698|550707|550717|623687|969735", "text": "Ovarian cancer" }, { - "baseId": "32716", + "upstreamId": "32716", "text": "Pancreatic cancer, susceptibility to" }, { - "baseId": "32716", + "upstreamId": "32716", "text": "Punctate palmoplantar keratoderma type 2" }, { - "baseId": "32736", + "upstreamId": "32736", "text": "Memory impairment, susceptibility to" }, { - "baseId": "32739|32740|32742|32743|32743|38569|38570|38571|38572|38572|194351|227358|320698|329500|329506|329508|336135|463821|463821|488913|528205|693513|693513|702899|702899|725691|739238|739239|754073|871932|871933|871935|871936|871938|871939|957236|957237", + "upstreamId": "32739|32740|32742|32743|32743|38569|38570|38571|38572|38572|194351|227358|320698|329500|329506|329508|336135|463821|463821|488913|528205|693513|693513|702899|702899|725691|739238|739239|754073|871932|871933|871935|871936|871938|871939|957236|957237", "text": "Microphthalmia with brain and digit anomalies" }, { - "baseId": "32741|32742|32743|32743|38570|38572|38572|194351|320698|320704|329500|329506|329507|329508|329509|336094|336096|336109|336119|336131|336135|338038|463821|463821|488913|528205|693513|702899|702899|725691|739238|739239|754073|871931|871932|871933|871934|871936|871937|871938|871939|871940|871941|957236|957237", + "upstreamId": "32741|32742|32743|32743|38570|38572|38572|194351|320698|320704|329500|329506|329507|329508|329509|336094|336096|336109|336119|336131|336135|338038|463821|463821|488913|528205|693513|702899|702899|725691|739238|739239|754073|871931|871932|871933|871934|871936|871937|871938|871939|871940|871941|957236|957237", "text": "Orofacial cleft 11" }, { - "baseId": "32744|609798|614360|799655", + "upstreamId": "32744|609798|614360|799655", "text": "Common variable immunodeficiency 5" }, { - "baseId": "32745|32746|137571|137573|137574|137576|433403|446138|468842|470263|570810|572530|573150|573151|648144|648145|741924|772716|847730|847731|847732|847733|847734|847735|847736|847737|847738|938705|938706|950808", + "upstreamId": "32745|32746|137571|137573|137574|137576|433403|446138|468842|470263|570810|572530|573150|573151|648144|648145|741924|772716|847730|847731|847732|847733|847734|847735|847736|847737|847738|938705|938706|950808", "text": "Agammaglobulinemia 3, autosomal recessive" }, { - "baseId": "32747", + "upstreamId": "32747", "text": "RH E/e POLYMORPHISM" }, { - "baseId": "32749|514288|514289|514290", + "upstreamId": "32749|514288|514289|514290", "text": "RH-NULL, AMORPH TYPE" }, { - "baseId": "32750", + "upstreamId": "32750", "text": "RHD-NEGATIVE POLYMORPHISM" }, { - "baseId": "32751", + "upstreamId": "32751", "text": "RhD category D-VII" }, { - "baseId": "32752", + "upstreamId": "32752", "text": "Rhd, weak d, type I" }, { - "baseId": "32753", + "upstreamId": "32753", "text": "BLOOD GROUP ERIK" }, { - "baseId": "32754|40056|791933", + "upstreamId": "32754|40056|791933", "text": "Landsteiner-Wiener phenotype" }, { - "baseId": "32756", + "upstreamId": "32756", "text": "KIDD BLOOD POLYMORPHISM Jk(a)/Jk(b)" }, { - "baseId": "32757|32758|32760", + "upstreamId": "32757|32758|32760", "text": "Jk-null variant" }, { - "baseId": "32759", + "upstreamId": "32759", "text": "Jk-null variant, finnish type" }, { - "baseId": "32761", + "upstreamId": "32761", "text": "KELL K/k BLOOD GROUP POLYMORPHISM" }, { - "baseId": "32762", + "upstreamId": "32762", "text": "KELL-NULL PHENOTYPE" }, { - "baseId": "32763|32765|32766", + "upstreamId": "32763|32765|32766", "text": "Blood group, Gerbich system" }, { - "baseId": "32764", + "upstreamId": "32764", "text": "Glycophorin c, gerbich variant" }, { - "baseId": "32767", + "upstreamId": "32767", "text": "DUFFY BLOOD GROUP SYSTEM, FYA/FYB POLYMORPHISM" }, { - "baseId": "32769|32770|32771|32772|32773", + "upstreamId": "32769|32770|32771|32772|32773", "text": "Blood group, Dombrock system" }, { - "baseId": "32774|32775|32776|32778", + "upstreamId": "32774|32775|32776|32778", "text": "ABO blood group system" }, { - "baseId": "32779|214524|529416|726090|842413", + "upstreamId": "32779|214524|529416|726090|842413", "text": "Hypoproteinemia, hypercatabolic" }, { - "baseId": "32781", + "upstreamId": "32781", "text": "Asthma, nocturnal, susceptibility to" }, { - "baseId": "32782", + "upstreamId": "32782", "text": "ADRB2 POLYMORPHISM" }, { - "baseId": "32783|32784", + "upstreamId": "32783|32784", "text": "Beta-2-adrenoreceptor agonist, reduced response to" }, { - "baseId": "32785|33199", + "upstreamId": "32785|33199", "text": "Congestive heart failure and beta-blocker response, modifier of" }, { - "baseId": "32786", + "upstreamId": "32786", "text": "Resting heart rate" }, { - "baseId": "32787|32788|32789|38565|335600|335602|335605|335607|335608|335613|335614|345366|345367|350034|350035|350038|350040|350044|350047|351080|351081|378249|487845|610160|620663|728697|757571|886181|886182|886183|886184|886185|886186|886187|887466|887467|887468|982221", + "upstreamId": "32787|32788|32789|38565|335600|335602|335605|335607|335608|335613|335614|345366|345367|350034|350035|350038|350040|350044|350047|351080|351081|378249|487845|610160|620663|728697|757571|886181|886182|886183|886184|886185|886186|886187|887466|887467|887468|982221", "text": "Hyper-IgM syndrome type 3" }, { - "baseId": "32790", + "upstreamId": "32790", "text": "BLOOD GROUP--OK" }, { - "baseId": "32791", + "upstreamId": "32791", "text": "Band 3 memphis" }, { - "baseId": "32791|32793|32795|32798|32802|32803|32804|32805|32807|32808|32810|32816|32821|32822|75388|256186|256187|256188|256190|256192|256193|256194|256195|256196|256196|256197|256198|328654|328655|328658|328667|328670|328681|328682|328683|338630|338644|338650|338651|338653|338656|338661|338663|338665|344706|344708|344710|344712|344719|344720|344722|344723|344724|344726|344727|344730|344734|346097|346103|346104|346106|346108|346110|346111|346117|346121|346122|346126|346127|346132|432335|727205|727207|740809|740810|755890|818334|845491|877685|877686|877687|877688|877689|877690|877691|877692|877693|877694|877695|877696|877697|877698|877699|877700|877701|877702|877703|877704|877705|877706|877707|877708|877709|877710|877711|877712|877713|877714|877715|877716|877717|877718|877719|877720|877721|877722|877723|877724|877725|877726|877727|877728|877729|877730|877731|877732|877733|877734|880529|880530|880531", + "upstreamId": "32791|32793|32795|32798|32802|32803|32804|32805|32807|32808|32810|32816|32821|32822|75388|256186|256187|256188|256190|256192|256193|256194|256195|256196|256196|256197|256198|328654|328655|328658|328667|328670|328681|328682|328683|338630|338644|338650|338651|338653|338656|338661|338663|338665|344706|344708|344710|344712|344719|344720|344722|344723|344724|344726|344727|344730|344734|346097|346103|346104|346106|346108|346110|346111|346117|346121|346122|346126|346127|346132|432335|727205|727207|740809|740810|755890|818334|845491|877685|877686|877687|877688|877689|877690|877691|877692|877693|877694|877695|877696|877697|877698|877699|877700|877701|877702|877703|877704|877705|877706|877707|877708|877709|877710|877711|877712|877713|877714|877715|877716|877717|877718|877719|877720|877721|877722|877723|877724|877725|877726|877727|877728|877729|877730|877731|877732|877733|877734|880529|880530|880531", "text": "Autosomal dominant distal renal tubular acidosis" }, { - "baseId": "32791|32793|32794|32795|32797|32798|32799|32800|32801|32807|32808|32809|32812|32814|32815|32819|32821|32822|75388|256186|256187|256188|256190|256192|256193|256194|256195|256196|256196|256197|256198|328654|328655|328658|328667|328670|328681|328682|328683|338630|338644|338650|338651|338653|338656|338661|338663|338665|344706|344708|344710|344712|344719|344720|344722|344723|344724|344726|344727|344730|344734|346097|346103|346104|346106|346108|346110|346111|346117|346121|346122|346126|346127|346132|511039|535262|535263|535264|535265|535266|727205|727207|740809|740810|755890|791779|845491|877685|877686|877687|877688|877689|877690|877691|877692|877693|877694|877695|877696|877697|877698|877699|877700|877701|877702|877703|877704|877705|877706|877707|877708|877709|877710|877711|877712|877713|877714|877715|877716|877717|877718|877719|877720|877721|877722|877723|877724|877725|877726|877727|877728|877729|877730|877731|877732|877733|877734|880529|880530|880531", + "upstreamId": "32791|32793|32794|32795|32797|32798|32799|32800|32801|32807|32808|32809|32812|32814|32815|32819|32821|32822|75388|256186|256187|256188|256190|256192|256193|256194|256195|256196|256196|256197|256198|328654|328655|328658|328667|328670|328681|328682|328683|338630|338644|338650|338651|338653|338656|338661|338663|338665|344706|344708|344710|344712|344719|344720|344722|344723|344724|344726|344727|344730|344734|346097|346103|346104|346106|346108|346110|346111|346117|346121|346122|346126|346127|346132|511039|535262|535263|535264|535265|535266|727205|727207|740809|740810|755890|791779|845491|877685|877686|877687|877688|877689|877690|877691|877692|877693|877694|877695|877696|877697|877698|877699|877700|877701|877702|877703|877704|877705|877706|877707|877708|877709|877710|877711|877712|877713|877714|877715|877716|877717|877718|877719|877720|877721|877722|877723|877724|877725|877726|877727|877728|877729|877730|877731|877732|877733|877734|880529|880530|880531", "text": "Spherocytosis type 4" }, { - "baseId": "32792", + "upstreamId": "32792", "text": "Ovalocytosis, southeast Asian" }, { - "baseId": "32795|214835|214836|214837|919731", + "upstreamId": "32795|214835|214836|214837|919731", "text": "Hereditary cryohydrocytosis with normal stomatin" }, { - "baseId": "32796", + "upstreamId": "32796", "text": "BLOOD GROUP--WALDNER TYPE" }, { - "baseId": "32798", + "upstreamId": "32798", "text": "BLOOD GROUP--WRIGHT ANTIGEN" }, { - "baseId": "32806|32810|32811|32812|32818|256196|513221|513222|513223", + "upstreamId": "32806|32810|32811|32812|32818|256196|513221|513222|513223", "text": "Renal tubular acidosis, distal, with hemolytic anemia" }, { - "baseId": "32807", + "upstreamId": "32807", "text": "DIEGO BLOOD GROUP ANTIGEN" }, { - "baseId": "32813|32821", + "upstreamId": "32813|32821", "text": "SWANN BLOOD GROUP ANTIGEN" }, { - "baseId": "32817", + "upstreamId": "32817", "text": "Renal tubular acidosis, distal, with normal red cell morphology" }, { - "baseId": "32820", + "upstreamId": "32820", "text": "BLOOD GROUP--FROESE" }, { - "baseId": "32822", + "upstreamId": "32822", "text": "Acanthocytosis due to band 3 ht" }, { - "baseId": "32822", + "upstreamId": "32822", "text": "Acanthocytosis" }, { - "baseId": "32823|32824|32825|32826|190426|190426|204583|204587|267323|272459|308303|308305|308307|312693|312703|312707|312716|312717|318592|318595|318595|318597|318600|319133|319133|319141|319143|319144|319145|319145|362062|362063|362064|362065|362066|438816|459243|459543|460088|490866|511840|511840|524861|524864|524865|524865|524989|524989|563262|563263|620811|622395|638314|638315|682631|695443|700994|700995|700996|700997|700998|700998|700999|701000|737129|751704|777818|777820|777820|790910|836153|836154|836155|836156|836157|858773|858774|861211|861212|861257|861258|861259|861260|861261|861262|861263|861264|861276|861277|861278|861279|861280|902017|902018|902019|902020|902021|902022|902023|902024|902025|902026|902027|902028|902029|903402|903403|903404|903405|903406|919233|925595|925596|925597|925598|925599|955850|961023|961295|964909", + "upstreamId": "32823|32824|32825|32826|190426|190426|204583|204587|267323|272459|308303|308305|308307|312693|312703|312707|312716|312717|318592|318595|318595|318597|318600|319133|319133|319141|319143|319144|319145|319145|362062|362063|362064|362065|362066|438816|459243|459543|460088|490866|511840|511840|524861|524864|524865|524865|524989|524989|563262|563263|620811|622395|638314|638315|682631|695443|700994|700995|700996|700997|700998|700998|700999|701000|737129|751704|777818|777820|777820|790910|836153|836154|836155|836156|836157|858773|858774|861211|861212|861257|861258|861259|861260|861261|861262|861263|861264|861276|861277|861278|861279|861280|902017|902018|902019|902020|902021|902022|902023|902024|902025|902026|902027|902028|902029|903402|903403|903404|903405|903406|919233|925595|925596|925597|925598|925599|955850|961023|961295|964909", "text": "Acromesomelic dysplasia, Maroteaux type" }, { - "baseId": "32827|132361|238133|238133|238134|238135|390780|390781|390808|390812|447018|447106|447114|447188|447193|514998|515054|515067|556861|556881|557006|557121|626689|626690|626691|626692|818836|822595|822596|822597|822598|921601|921602|929993|929994|952032", + "upstreamId": "32827|132361|238133|238133|238134|238135|390780|390781|390808|390812|447018|447106|447114|447188|447193|514998|515054|515067|556861|556881|557006|557121|626689|626690|626691|626692|818836|822595|822596|822597|822598|921601|921602|929993|929994|952032", "text": "Atrial fibrillation, familial, 6" }, { - "baseId": "32828|32829|32830|32833|32834|32835|32839|315992|315993|315995|315999|316000|316001|316003|316004|316007|316009|316014|316015|316016|316023|323249|323252|323253|323254|323269|323273|323280|323281|323282|323285|323286|323288|329296|329299|329300|329303|329305|329307|329308|329314|329315|329329|329339|329341|329364|329366|330502|330503|330504|330508|330512|330517|330518|330528|330529|330534|330542|330545|330551|330554|408521|702109|791193|794041|798650|869246|869247|869248|869249|869250|869251|869252|869253|869254|869255|869256|869257|869258|869259|869260|869261|869262|869263|869264|869265|869266|869267|869268|869269|869270|869271|872187|872188|872189|872190", + "upstreamId": "32828|32829|32830|32833|32834|32835|32839|315992|315993|315995|315999|316000|316001|316003|316004|316007|316009|316014|316015|316016|316023|323249|323252|323253|323254|323269|323273|323280|323281|323282|323285|323286|323288|329296|329299|329300|329303|329305|329307|329308|329314|329315|329329|329339|329341|329364|329366|330502|330503|330504|330508|330512|330517|330518|330528|330529|330534|330542|330545|330551|330554|408521|702109|791193|794041|798650|869246|869247|869248|869249|869250|869251|869252|869253|869254|869255|869256|869257|869258|869259|869260|869261|869262|869263|869264|869265|869266|869267|869268|869269|869270|869271|872187|872188|872189|872190", "text": "Keratosis follicularis" }, { - "baseId": "32831|32832", + "upstreamId": "32831|32832", "text": "Darier disease, acral hemorrhagic type" }, { - "baseId": "32836|32837", + "upstreamId": "32836|32837", "text": "Darier disease, segmental" }, { - "baseId": "32838|38564|919408|920309", + "upstreamId": "32838|38564|919408|920309", "text": "Acrokeratosis verruciformis of Hopf" }, { - "baseId": "32840", + "upstreamId": "32840", "text": "Deafness, autosomal recessive 12, modifier of" }, { - "baseId": "32841|32842|32843|32844|32845|102433|102434|102435|102436|102437|102438|102439|324938|324939|324941|324942|324944|324945|324946|324950|324951|324963|334586|334597|334609|334610|334612|334615|334617|334618|334622|334627|334630|341114|341116|341117|341118|342633|342634|342641|342645|342646|342655|374322|374323|374324|374327|374336|375056|375065|375355|375360|375361|375368|377489|409605|409608|415488|426167|426169|441893|441895|441898|445557|464825|465537|465598|465599|465612|465628|465630|466321|466323|466325|466328|466332|466343|466347|466350|466352|466353|466354|466356|466603|466605|466607|466609|466611|466621|466624|529892|529894|529896|529900|529975|529981|530214|530217|530399|530408|567489|568063|568066|568072|568074|568076|568077|570087|570092|570227|570229|570233|574013|574017|574024|577540|577541|644543|644544|644545|644546|644547|644548|644549|644550|644551|644552|644553|644554|644555|644556|644557|644558|644559|644560|644561|644562|644563|644564|644565|644566|644567|644568|644569|644570|644571|644572|644573|644574|652559|654800|693837|693838|693839|693842|693843|695686|695688|695689|714847|726557|726558|770839|785250|820820|820821|820822|843705|843706|843707|843708|843709|843710|843711|843712|843713|843714|843715|843716|843717|843718|843719|843720|843721|843722|843723|843724|843725|843726|843727|843728|851667|858305|858414|875073|875074|875075|875076|875077|875078|875079|875080|875081|875082|875083|875084|876650|927761|927762|927763|927764|927765|927766|937400|937401|937402|937403|949351|949352|949353|949354|949355|949356|957725|957726|957727|957728|957729|960153", + "upstreamId": "32841|32842|32843|32844|32845|102433|102434|102435|102436|102437|102438|102439|324938|324939|324941|324942|324944|324945|324946|324950|324951|324963|334586|334597|334609|334610|334612|334615|334617|334618|334622|334627|334630|341114|341116|341117|341118|342633|342634|342641|342645|342646|342655|374322|374323|374324|374327|374336|375056|375065|375355|375360|375361|375368|377489|409605|409608|415488|426167|426169|441893|441895|441898|445557|464825|465537|465598|465599|465612|465628|465630|466321|466323|466325|466328|466332|466343|466347|466350|466352|466353|466354|466356|466603|466605|466607|466609|466611|466621|466624|529892|529894|529896|529900|529975|529981|530214|530217|530399|530408|567489|568063|568066|568072|568074|568076|568077|570087|570092|570227|570229|570233|574013|574017|574024|577540|577541|644543|644544|644545|644546|644547|644548|644549|644550|644551|644552|644553|644554|644555|644556|644557|644558|644559|644560|644561|644562|644563|644564|644565|644566|644567|644568|644569|644570|644571|644572|644573|644574|652559|654800|693837|693838|693839|693842|693843|695686|695688|695689|714847|726557|726558|770839|785250|820820|820821|820822|843705|843706|843707|843708|843709|843710|843711|843712|843713|843714|843715|843716|843717|843718|843719|843720|843721|843722|843723|843724|843725|843726|843727|843728|851667|858305|858414|875073|875074|875075|875076|875077|875078|875079|875080|875081|875082|875083|875084|876650|927761|927762|927763|927764|927765|927766|937400|937401|937402|937403|949351|949352|949353|949354|949355|949356|957725|957726|957727|957728|957729|960153", "text": "Brody myopathy" }, { - "baseId": "32847", + "upstreamId": "32847", "text": "NAT1*17 ALLELE" }, { - "baseId": "32848|32849|32850|32851|32852|32853|38563|194327|198631|236936|236993|237084|303182|303185|303190|303192|306444|306452|306457|306460|306464|306465|306466|306468|306469|311343|311344|311345|311349|311350|311353|311354|311356|311457|311458|311461|311462|371156|407159|481234|508826|508827|550205|561990|561991|561994|620266|624052|636200|700133|711042|711043|736171|766308|782875|789120|789371|790726|852366|898242|898243|898244|898245|898246|898247|898248|898249|898250|898251|898252|898253|898254|898255|898256|898257|900376|900377|900378|900379|900380|900381|920242|924865|933896|933897|959858|961779|961780|965588", + "upstreamId": "32848|32849|32850|32851|32852|32853|38563|194327|198631|236936|236993|237084|303182|303185|303190|303192|306444|306452|306457|306460|306464|306465|306466|306468|306469|311343|311344|311345|311349|311350|311353|311354|311356|311457|311458|311461|311462|371156|407159|481234|508826|508827|550205|561990|561991|561994|620266|624052|636200|700133|711042|711043|736171|766308|782875|789120|789371|790726|852366|898242|898243|898244|898245|898246|898247|898248|898249|898250|898251|898252|898253|898254|898255|898256|898257|900376|900377|900378|900379|900380|900381|920242|924865|933896|933897|959858|961779|961780|965588", "text": "Deficiency of aromatic-L-amino-acid decarboxylase" }, { - "baseId": "32854|32855|32856|32857|32858|32859|32860|32861|32862|32865|140767|322823|322828|322830|322833|322834|322835|322839|322848|322850|322851|322853|322854|322856|322857|322858|322860|332349|332350|332356|332357|332358|332360|332365|332369|332371|332372|332373|332376|339339|339346|339347|339351|339352|339353|339354|339355|339362|339366|339374|340785|340786|340790|340793|340803|505323|505751|620872|739675|754517|754518|754520|760347|760348|770224|770225|770227|784954|784955|784956|873769|873770|873771|873772|873773|873774|873775|873776|873777|873778|873779|873780|873781|873782|873783|873784|873785|873786|873787|873788|873789|873790|873791|873792|873793|873794|873795|873796|873797|873798|873799|873800|873801|873802|873803|873804|873805|920346|979618|979619|979620|979621|979622|979623|979624|979625|979626|979627|979628|979629|979630|979631|979632|979633|979634|979635", + "upstreamId": "32854|32855|32856|32857|32858|32859|32860|32861|32862|32865|140767|322823|322828|322830|322833|322834|322835|322839|322848|322850|322851|322853|322854|322856|322857|322858|322860|332349|332350|332356|332357|332358|332360|332365|332369|332371|332372|332373|332376|339339|339346|339347|339351|339352|339353|339354|339355|339362|339366|339374|340785|340786|340790|340793|340803|505323|505751|620872|739675|754517|754518|754520|760347|760348|770224|770225|770227|784954|784955|784956|873769|873770|873771|873772|873773|873774|873775|873776|873777|873778|873779|873780|873781|873782|873783|873784|873785|873786|873787|873788|873789|873790|873791|873792|873793|873794|873795|873796|873797|873798|873799|873800|873801|873802|873803|873804|873805|920346|979618|979619|979620|979621|979622|979623|979624|979625|979626|979627|979628|979629|979630|979631|979632|979633|979634|979635", "text": "Aromatase deficiency" }, { - "baseId": "32863|32864|32866", + "upstreamId": "32863|32864|32866", "text": "Aromatase excess syndrome" }, { - "baseId": "32867|32868|32869|32870|32871|32872|32873|32874|32876|32877|32878|32881|32882|32883|32884", + "upstreamId": "32867|32868|32869|32870|32871|32872|32873|32874|32876|32877|32878|32881|32882|32883|32884", "text": "Diabetes insipidus, nephrogenic, autosomal recessive" }, { - "baseId": "32875|32879|32880", + "upstreamId": "32875|32879|32880", "text": "Diabetes insipidus, nephrogenic, autosomal dominant" }, { - "baseId": "32885", + "upstreamId": "32885", "text": "COLTON BLOOD GROUP POLYMORPHISM" }, { - "baseId": "32886", + "upstreamId": "32886", "text": "Colton-null phenotype" }, { - "baseId": "32887|32889|32890|32891|32892|32896|32897|32900|32901|32904|906167|961224|961225", + "upstreamId": "32887|32889|32890|32891|32892|32896|32897|32900|32901|32904|906167|961224|961225", "text": "Familial type 3 hyperlipoproteinemia" }, { - "baseId": "32887|227759|538603", + "upstreamId": "32887|227759|538603", "text": "atorvastatin response - Efficacy" }, { - "baseId": "32887|32895|215242|246297|287155|362735|434210|682121", + "upstreamId": "32887|32895|215242|246297|287155|362735|434210|682121", "text": "Hypercholesterolemia" }, { - "baseId": "32888", + "upstreamId": "32888", "text": "HYPERLIPOPROTEINEMIA, TYPE III, AND ATHEROSCLEROSIS ASSOCIATED WITH APOE5" }, { - "baseId": "32898", + "upstreamId": "32898", "text": "APOE2-DUNEDIN" }, { - "baseId": "32899", + "upstreamId": "32899", "text": "APOE5 VARIANT" }, { - "baseId": "32901", + "upstreamId": "32901", "text": "HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON)" }, { - "baseId": "32903", + "upstreamId": "32903", "text": "Alzheimer disease 2" }, { - "baseId": "32903|33133", + "upstreamId": "32903|33133", "text": "Primary degenerative dementia of the Alzheimer type, presenile onset" }, { - "baseId": "32903|32918|32919", + "upstreamId": "32903|32918|32919", "text": "Lipoprotein glomerulopathy" }, { - "baseId": "32910", + "upstreamId": "32910", "text": "APOE3(-)-FREIBURG" }, { - "baseId": "32913", + "upstreamId": "32913", "text": "APOE2 VARIANT" }, { - "baseId": "32914", + "upstreamId": "32914", "text": "APOE4 VARIANT" }, { - "baseId": "32915", + "upstreamId": "32915", "text": "APOE4(+)" }, { - "baseId": "32920|32921|32922|32923|32924|32925|32926|32927|32928|32929|32931|32933|32934|32935|32937|32938|38562|133873|238613|260642|280907|280912|280921|280922|280927|280928|280943|280947|281413|281414|281421|281423|281462|281464|281482|281488|281491|281492|282654|282656|282659|282664|282680|282691|282692|282936|282952|282971|282972|282974|282976|282977|284416|284421|284513|285074|285091|285100|285117|285119|285145|285188|287248|287258|287262|287263|287276|287316|287496|287500|287501|287521|287529|287554|287575|287586|287591|434172|434174|434175|434176|434177", + "upstreamId": "32920|32921|32922|32923|32924|32925|32926|32927|32928|32929|32931|32933|32934|32935|32937|32938|38562|133873|238613|260642|280907|280912|280921|280922|280927|280928|280943|280947|281413|281414|281421|281423|281462|281464|281482|281488|281491|281492|282654|282656|282659|282664|282680|282691|282692|282936|282952|282971|282972|282974|282976|282977|284416|284421|284513|285074|285091|285100|285117|285119|285145|285188|287248|287258|287262|287263|287276|287316|287496|287500|287501|287521|287529|287554|287575|287586|287591|434172|434174|434175|434176|434177", "text": "Familial hypobetalipoproteinemia" }, { - "baseId": 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"text": "Familial hypercholesterolemia 2" }, { - "baseId": 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"text": "Hypobetalipoproteinemia, familial, 1" }, { - "baseId": "32930", + "upstreamId": "32930", "text": "APOB POLYMORPHISM IN SIGNAL PEPTIDE" }, { - "baseId": "32932|32939|32940", + "upstreamId": "32932|32939|32940", "text": "Hypobetalipoproteinemia, normotriglyceridemic" }, { - "baseId": "32941", + "upstreamId": "32941", "text": "Apolipoprotein c-iii, nonglycosylated" }, { - "baseId": "32942|32943|143193|143194|143195|508859", + "upstreamId": "32942|32943|143193|143194|143195|508859", "text": "Hyperalphalipoproteinemia 2" }, { - "baseId": "32944", + "upstreamId": "32944", "text": "APOLIPOPROTEIN A-IV POLYMORPHISM, APOA4*1/APOA4*2" }, { - "baseId": "32945", + "upstreamId": "32945", "text": "APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*0" }, { - "baseId": "32946", + "upstreamId": "32946", "text": "APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*3" }, { - "baseId": "32947", + "upstreamId": "32947", "text": "APOLIPOPROTEIN A-IV RARE VARIANT, APOA4*5" }, { - "baseId": "32948", + "upstreamId": "32948", "text": "APOLIPOPROTEIN A-I (MILANO)" }, { - "baseId": "32949", + "upstreamId": "32949", "text": "APOLIPOPROTEIN A-I (GIESSEN)" }, { - "baseId": "32950", + "upstreamId": "32950", "text": "APOLIPOPROTEIN A-I (MARBURG)" }, { - "baseId": "32951", + "upstreamId": "32951", "text": "APOLIPOPROTEIN A-I (MUNSTER4)" }, { - "baseId": "32952", + "upstreamId": "32952", "text": "APOLIPOPROTEIN A-I (NORWAY)" }, { - "baseId": "32953", + "upstreamId": "32953", "text": "APOLIPOPROTEIN A-I (MUNSTER3C)" }, { - "baseId": "32954", + "upstreamId": "32954", "text": "APOLIPOPROTEIN A-I (MUNSTER3B)" }, { - "baseId": "32955|32958|32960|32961|32965|32968", + "upstreamId": "32955|32958|32960|32961|32965|32968", "text": "Apolipoprotein A-I deficiency" }, { - "baseId": "32956", + "upstreamId": "32956", "text": "Familial amyloid polyneuropathy, Iowa type" }, { - "baseId": "32957", + "upstreamId": "32957", "text": "Apolipoproteins a-i and c-iii, combined deficiency of" }, { - "baseId": "32957", + "upstreamId": "32957", "text": "High density lipoprotein deficiency, Detroit type" }, { - "baseId": "32959", + "upstreamId": "32959", "text": "APOLIPOPROTEIN A-I (BALTIMORE)" }, { - "baseId": "32969", + "upstreamId": "32969", "text": "Hypoalphalipoproteinemia, primary, 2" }, { - "baseId": "32970|32971", + "upstreamId": "32970|32971", "text": "Amyloidosis, cardiac and cutaneous" }, { - "baseId": "32974", + "upstreamId": "32974", "text": "APOLIPOPROTEIN A-II DEFICIENCY, FAMILIAL, DUE TO APOA-II (HIROSHIMA)" }, { - "baseId": "32976|32977|32978|32979|32980|33504|33505|190138|190139|511616|513960|537794|537795|537796|537797|537798|537799|537800|537801|537802|537803|550600|790571|798565|818137|918988|961513|969748|970818", + "upstreamId": "32976|32977|32978|32979|32980|33504|33505|190138|190139|511616|513960|537794|537795|537796|537797|537798|537799|537800|537801|537802|537803|550600|790571|798565|818137|918988|961513|969748|970818", "text": "Branchiooculofacial syndrome" }, { - "baseId": "32981|32982|32983|32984|32985|32986|32987|32988|32989|32990|38561|45034|45037|45038|116887|116889|116890|116891|116895|116928|205148|299195|299200|299201|299203|299204|301613|301614|301617|301624|301627|301629|301632|301633|305998|306000|306006|306024|306029|306030|306032|306314|332889|343076|348405|455399|455403|487189|512878|512881|521447|521454|521455|521730|521790|521799|522040|522044|560471|560606|560608|565449|614297|614297|620217|621747|634643|634644|634645|634646|634647|634648|634649|634649|634650|634651|634652|634653|634654|634655|651529|710193|721734|721735|721736|735434|735435|749834|765507|782458|782459|790593|790594|790595|818387|818388|819643|831610|831611|831612|831613|831614|831615|831616|831617|852014|895459|895460|895461|895462|895463|895464|895465|895466|895467|895468|895469|895470|895471|895472|895473|895474|895475|895476|895477|895478|924266|924267|924268|924269|924270|924271|924272|944901|944902|944903|954382|954383|954384|954385|980456", + "upstreamId": "32981|32982|32983|32984|32985|32986|32987|32988|32989|32990|38561|45034|45037|45038|116887|116889|116890|116891|116895|116928|205148|299195|299200|299201|299203|299204|301613|301614|301617|301624|301627|301629|301632|301633|305998|306000|306006|306024|306029|306030|306032|306314|332889|343076|348405|455399|455403|487189|512878|512881|521447|521454|521455|521730|521790|521799|522040|522044|560471|560606|560608|565449|614297|614297|620217|621747|634643|634644|634645|634646|634647|634648|634649|634649|634650|634651|634652|634653|634654|634655|651529|710193|721734|721735|721736|735434|735435|749834|765507|782458|782459|790593|790594|790595|818387|818388|819643|831610|831611|831612|831613|831614|831615|831616|831617|852014|895459|895460|895461|895462|895463|895464|895465|895466|895467|895468|895469|895470|895471|895472|895473|895474|895475|895476|895477|895478|924266|924267|924268|924269|924270|924271|924272|944901|944902|944903|954382|954383|954384|954385|980456", "text": "Disseminated atypical mycobacterial infection" }, { - "baseId": "32986|32991|32993|205148|614297|634649|980456", + "upstreamId": "32986|32991|32993|205148|614297|634649|980456", "text": "Immunodeficiency 27b" }, { - "baseId": "32986", + "upstreamId": "32986", "text": "IFN-gamma receptor 1 deficiency" }, { - "baseId": "32992|980456", + "upstreamId": "32992|980456", "text": "Helicobacter pylori infection, susceptibility to" }, { - "baseId": "32994|32995", + "upstreamId": "32994|32995", "text": "PI M1-ALA213" }, { - "baseId": "32994", + "upstreamId": "32994", "text": "PI, M1A" }, { - "baseId": "32994|32996|32997|33000|33001|33002|33003|33004|33005|33006|33006|33008|33008|33009|33010|33010|33011|33013|33014|33015|33016|33018|33019|33021|33022|33024|33025|33026|33031|33032|175951|176094|176095|186924|186925|186926|186927|194290|214472|221042|221043|221044|221045|221046|221047|221048|221049|221050|221051|221052|221053|221054|221055|221056|221057|221058|221059|221060|255114|255115|270546|272333|272693|273372|273566|275216|321835|321837|321838|321840|321844|321853|321854|321855|321856|321860|321861|321865|331140|331143|331146|331148|331149|331150|331152|331154|331157|331158|331161|331164|331168|331170|331174|337935|337949|337952|337959|337963|337965|337970|337989|337992|337993|339920|339924|339926|339931|339935|339939|339940|339943|339945|339948|339952|353313|354274|358271|358272|358273|358274|358275|358276|415410|434114|434115|434116|434117|434118|434119|434120|434121|434122|434123|434124|434126|434127|437676|437677|437678|437679|437680|437681|437682|437683|437684|437685|437686|464171|464192|490674|492173|492765|493455|547383|547456|547458|547460|547945|584517|585153|585525|586517|614632|614633|614634|614635|614636|614637|614638|614639|614640|620499|620500|679858|679859|679860|688374|688375|688377|688378|690092|690093|693619|841913|872966|872967|872968|872969|872970|872971|872972|872973|872974|872975|872976|872977|872978|872979|872980|872981|872982|872983|872984|872985|872986|872987|872988|872989", + "upstreamId": "32994|32996|32997|33000|33001|33002|33003|33004|33005|33006|33006|33008|33008|33009|33010|33010|33011|33013|33014|33015|33016|33018|33019|33021|33022|33024|33025|33026|33031|33032|175951|176094|176095|186924|186925|186926|186927|194290|214472|221042|221043|221044|221045|221046|221047|221048|221049|221050|221051|221052|221053|221054|221055|221056|221057|221058|221059|221060|255114|255115|270546|272333|272693|273372|273566|275216|321835|321837|321838|321840|321844|321853|321854|321855|321856|321860|321861|321865|331140|331143|331146|331148|331149|331150|331152|331154|331157|331158|331161|331164|331168|331170|331174|337935|337949|337952|337959|337963|337965|337970|337989|337992|337993|339920|339924|339926|339931|339935|339939|339940|339943|339945|339948|339952|353313|354274|358271|358272|358273|358274|358275|358276|415410|434114|434115|434116|434117|434118|434119|434120|434121|434122|434123|434124|434126|434127|437676|437677|437678|437679|437680|437681|437682|437683|437684|437685|437686|464171|464192|490674|492173|492765|493455|547383|547456|547458|547460|547945|584517|585153|585525|586517|614632|614633|614634|614635|614636|614637|614638|614639|614640|620499|620500|679858|679859|679860|688374|688375|688377|688378|690092|690093|693619|841913|872966|872967|872968|872969|872970|872971|872972|872973|872974|872975|872976|872977|872978|872979|872980|872981|872982|872983|872984|872985|872986|872987|872988|872989", "text": "Alpha-1-antitrypsin deficiency" }, { - "baseId": "32995", + "upstreamId": "32995", "text": "PI, M1V" }, { - "baseId": "32996", + "upstreamId": "32996", "text": "PI M2" }, { - "baseId": "32996", + "upstreamId": "32996", "text": "PI M4" }, { - "baseId": "32997", + "upstreamId": "32997", "text": "PI M3" }, { - "baseId": "32999", + "upstreamId": "32999", "text": "PI B(ALHAMBRA)" }, { - "baseId": "33000", + "upstreamId": "33000", "text": "PI F" }, { - "baseId": "33001", + "upstreamId": "33001", "text": "PI P(ST. ALBANS)" }, { - "baseId": "33002", + "upstreamId": "33002", "text": "PI X" }, { - "baseId": "33003", + "upstreamId": "33003", "text": "PI CHRISTCHURCH" }, { - "baseId": "33004", + "upstreamId": "33004", "text": "PI M(HEERLEN)" }, { - "baseId": "33005", + "upstreamId": "33005", "text": "PI M(MINERAL SPRINGS)" }, { - "baseId": "33006", + "upstreamId": "33006", "text": "PI Z" }, { - "baseId": "33006", + "upstreamId": "33006", "text": "PI Z(AUGSBURG)" }, { - "baseId": "33006", + "upstreamId": "33006", "text": "PI Z(TUN)" }, { - "baseId": "33006|33006|33008|33010|682501|682502|682503|682504|682505|682506|682507|858301|858302|858303", + "upstreamId": "33006|33006|33008|33010|682501|682502|682503|682504|682505|682506|682507|858301|858302|858303", "text": "Chronic obstructive pulmonary disease" }, { - "baseId": "33008", + "upstreamId": "33008", "text": "PI S" }, { - "baseId": "33009", + "upstreamId": "33009", "text": "PI Z(WREXHAM)" }, { - "baseId": "33010", + "upstreamId": "33010", "text": "PI M(PROCIDA)" }, { - "baseId": "33012", + "upstreamId": "33012", "text": "PI NULL(HONG KONG 2)" }, { - "baseId": "33013", + "upstreamId": "33013", "text": "PI I" }, { - "baseId": "33014", + "upstreamId": "33014", "text": "PI P(LOWELL)" }, { - "baseId": "33014", + "upstreamId": "33014", "text": "PI NULL(CARDIFF)" }, { - "baseId": "33014", + "upstreamId": "33014", "text": "PI Q0(CARDIFF)" }, { - "baseId": "33014", + "upstreamId": "33014", "text": "PI P(DUARTE)" }, { - "baseId": "33015", + "upstreamId": "33015", "text": "PI Q0(GRANITE FALLS)" }, { - "baseId": "33016", + "upstreamId": "33016", "text": "PI NULL(BELLINGHAM)" }, { - "baseId": "33016", + "upstreamId": "33016", "text": "PI Q0(BELLINGHAM)" }, { - "baseId": "33017", + "upstreamId": "33017", "text": "PI NULL(MATTAWA)" }, { - "baseId": "33018", + "upstreamId": "33018", "text": "PI NULL(PROCIDA)" }, { - "baseId": "33019", + "upstreamId": "33019", "text": "PI NULL(HONG KONG 1)" }, { - "baseId": "33019", + "upstreamId": "33019", "text": "PI Q0(HONG KONG 1)" }, { - "baseId": "33020", + "upstreamId": "33020", "text": "PI NULL(BOLTON)" }, { - "baseId": "33020", + "upstreamId": "33020", "text": "PI Q0(BOLTON)" }, { - "baseId": "33021", + "upstreamId": "33021", "text": "Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation" }, { - "baseId": "33022", + "upstreamId": "33022", "text": "PI V(MUNICH)" }, { - "baseId": "33024", + "upstreamId": "33024", "text": "PI W(BETHESDA)" }, { - "baseId": "33025", + "upstreamId": "33025", "text": "PI NULL(DEVON)" }, { - "baseId": "33025", + "upstreamId": "33025", "text": "PI Q0(DEVON)" }, { - "baseId": "33025", + "upstreamId": "33025", "text": "PI NULL(NEWPORT)" }, { - "baseId": "33025", + "upstreamId": "33025", "text": "PI Q0(NEWPORT)" }, { - "baseId": "33026", + "upstreamId": "33026", "text": "PI NULL(LUDWIGSHAFEN)" }, { - "baseId": "33026", + "upstreamId": "33026", "text": "PI Q0(LUDWIGSHAFEN)" }, { - "baseId": "33027", + "upstreamId": "33027", "text": "PI NULL(RIEDENBURG)" }, { - "baseId": "33031", + "upstreamId": "33031", "text": "PI S(IIYAMA)" }, { - "baseId": "33032", + "upstreamId": "33032", "text": "PI Z(BRISTOL)" }, { - "baseId": 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+ "upstreamId": "33033|33034|33035|33036|33037|33038|33039|33040|33041|133794|133795|133796|133797|133798|135660|140071|140073|140076|140078|140079|140081|140082|191988|194882|195288|201802|201803|201805|201808|201809|201816|201818|201819|201820|201821|201822|201823|201824|201827|201829|201830|201832|201833|201836|201837|201840|201842|201843|201846|201847|207150|207151|207152|221553|221554|221555|239636|251612|259803|259805|259807|264223|268025|271298|273031|295016|295023|295025|295026|295027|295033|295034|295042|295043|295044|295045|295051|295062|295064|295071|295075|295076|295079|295080|295085|296784|296785|296790|296815|296834|296844|296854|296855|296862|296863|296864|296868|296870|296877|296898|296902|296903|296904|300521|300526|300529|300530|300533|300535|300538|300539|300544|300545|300549|300551|300576|300578|300583|300589|300591|300593|300594|300595|300599|300601|300604|300605|300606|300607|300608|300627|300629|300635|300644|300649|300659|300660|300661|300663|359534|359635|360865|367843|368094|368095|368097|368112|368201|369423|369437|369462|394498|394570|394576|394748|394752|395013|395016|395021|406607|406608|414979|421513|443656|443657|454167|454169|454172|454178|454326|454327|454651|454656|454658|454968|454970|454973|454977|454981|500624|500625|520437|520667|520671|520943|551696|551736|551744|559827|559975|559977|559979|560090|560092|560094|560096|562574|562577|562580|564434|564435|564437|579014|579107|612270|614278|620178|620179|632894|632895|632896|632897|632898|632899|632900|632901|632902|632903|632904|632905|632906|632907|651290|651336|651338|683657|683658|685166|685167|695255|782112|790511|790512|819530|819531|829857|829858|829859|829860|829861|829862|829863|829864|829865|829866|829867|829868|829869|829870|829871|829872|829873|829874|829875|829876|829877|829878|829879|829880|829881|829882|829883|829884|829885|829886|829887|851242|851833|892696|892697|892698|892699|892700|892701|892702|892703|892704|892705|892706|892707|892708|892709|892710|892711|892712|892713|892714|892715|892716|892717|892718|892719|892720|892721|892722|892723|892724|892725|892726|892727|892728|892729|892730|892731|896020|896021|923732|923733|923734|923735|923736|932590|932591|932592|932593|932594|932595|940793|944260|944261|944262|944263|944264|944265|944266|953930|953931|953932|959743", "text": "Pyridoxine-dependent epilepsy" }, { - "baseId": "33034|171000|263288|263304|360865|434101|434634|514142|535230|621022|621038", + "upstreamId": "33034|171000|263288|263304|360865|434101|434634|514142|535230|621022|621038", "text": "Ventriculomegaly" }, { - "baseId": "33042|33043|33044|33045|33046|33047|33048|33049|33050|33051|33052|33053|33054|33055|33056|33058|33059|33060|33061|33062|33063|33064|33065|33066|33067|33068|33069|33070|33071|33072|33073|33074|33075|33076|33077|33078|33079|33080|33081|33082|33083|33084|33085|171055|185953|212078|221086|221087|238195|238196|238197|238198|249550|249551|277476|277479|277664|277668|278553|278556|354054|390735|390945|390949|447428|515311|515312|515340|515378|515387|557060|588364|615292|615293|615295|615296|615297|615298|615299|615300|615301|615302|615303|615304|615305|615306|615308|615855|615856|615857|615862|623052|627124|627125|627126|627127|627128|627129|650597|682730|685586|818873|823017|823018|823019|823020|858875|862838|862839|862840|862841|862842|862843|865041|930172|930173|930174|941582|941583|952147|952148|952149", + "upstreamId": 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}, { - "baseId": "33086", + "upstreamId": "33086", "text": "ANTICHYMOTRYPSIN ISEHARA 1" }, { - "baseId": "33086", + "upstreamId": "33086", "text": "Peripheral arterial occlusive disease 1" }, { - "baseId": "33087", + "upstreamId": "33087", "text": "ANTICHYMOTRYPSIN ISEHARA 2" }, { - "baseId": "33088", + "upstreamId": "33088", "text": "ANTICHYMOTRYPSIN BOCHUM 1" }, { - "baseId": "33089", + "upstreamId": "33089", "text": "ANTICHYMOTRYPSIN BONN 1" }, { - "baseId": "33090", + "upstreamId": "33090", "text": "ANTICHYMOTRYPSIN SIGNAL PEPTIDE POLYMORPHISM" }, { - "baseId": "33091|75619|106632|513315|622400", + "upstreamId": "33091|75619|106632|513315|622400", "text": "CD59-mediated hemolytic anemia with or without immune-mediated polyneuropathy" }, { - "baseId": "33093|33094|237208|248709|248710|248711|248712|324964|324967|324968|324973|324979|324983|334633|334634|334636|334637|334639|334654|341120|341121|341123|341124|341129|342656|342663|342665|342668|342669|342670|342672|342673|620537|626244|740096|799951|816335|875085|875086|875087|875088|875089|875090|875091|875092|875093|875094|875095|875096|961968|961969|982005", + "upstreamId": "33093|33094|237208|248709|248710|248711|248712|324964|324967|324968|324973|324979|324983|334633|334634|334636|334637|334639|334654|341120|341121|341123|341124|341129|342656|342663|342665|342668|342669|342670|342672|342673|620537|626244|740096|799951|816335|875085|875086|875087|875088|875089|875090|875091|875092|875093|875094|875095|875096|961968|961969|982005", "text": "Common variable immunodeficiency 3" }, { - "baseId": "33095|33098", + "upstreamId": "33095|33098", "text": "Long QT syndrome 4" }, { - "baseId": 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"text": "Cardiac arrhythmia, ankyrin B-related" }, { - "baseId": "33100", + "upstreamId": "33100", "text": "ANGIOTENSIN I-CONVERTING ENZYME INSERTION/DELETION POLYMORPHISM" }, { - "baseId": "33100", + "upstreamId": "33100", "text": "Microvascular complications of diabetes 3" }, { - "baseId": "33100", + "upstreamId": "33100", "text": "Stroke, hemorrhagic, susceptibility to" }, { - "baseId": "33100", + "upstreamId": "33100", "text": "Severe acute respiratory syndrome, progression of" }, { - "baseId": "33100|33107", + "upstreamId": "33100|33107", "text": "Susceptibility to progression to renal failure in IgA nephropathy" }, { - "baseId": "33101", + "upstreamId": "33101", "text": "Angiotensin i-converting enzyme, benign serum increase" }, { - "baseId": "33107", + "upstreamId": "33107", "text": "Preeclampsia, susceptibility to" }, { - "baseId": "33108", + "upstreamId": "33108", "text": "Crohn disease, association with" }, { - "baseId": 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"text": "Neuroblastoma 3" }, { - "baseId": "33126", + "upstreamId": "33126", "text": "ABeta amyloidosis, Dutch type" }, { - "baseId": "33127|33128|33129|33130|33132|33133|33134|33135|33136|33137|33139|33141|33144", + "upstreamId": "33127|33128|33129|33130|33132|33133|33134|33135|33136|33137|33139|33141|33144", "text": "Alzheimer disease, type 1" }, { - "baseId": "33130", + "upstreamId": "33130", "text": "ABetaA21G amyloidosis" }, { - "baseId": "33137", + "upstreamId": "33137", "text": "ABeta amyloidosis, Arctic type" }, { - "baseId": "33138", + "upstreamId": "33138", "text": "ABeta amyloidosis, Italian type" }, { - "baseId": "33140", + "upstreamId": "33140", "text": "ABeta amyloidosis, Iowa type" }, { - "baseId": "33142", + "upstreamId": "33142", "text": "CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED, PIEDMONT VARIANT" }, { - "baseId": "33143", + "upstreamId": "33143", "text": "Alzheimer disease, early-onset, with cerebral amyloid angiopathy" }, { - "baseId": "33146|33147", + "upstreamId": "33146|33147", "text": "Serum amyloid a variant" }, { - "baseId": "33148|33149|33150|33151|33152|33153|171740|538360|720546|720547|788766|961766", + "upstreamId": "33148|33149|33150|33151|33152|33153|171740|538360|720546|720547|788766|961766", "text": "Aminoacylase 1 deficiency" }, { - "baseId": 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+ "upstreamId": "33162|33162|33163|33163|33164|33164|33165|33166|33166|33167|33168|33169|33170|33170|33171|33172|33173|33174|33175|33175|33176|33177|33179|33180|33181|33182|33182|33184|33184|33185|33186|33187|33187|33188|33189|33191|33194|33194|33195|33196|33196|33197|33878|33879|33880|33880|33881|46864|103896|103896|103907|103907|103914|103915|103918|103940|103945|103957|103973|103986|103986|103993|104001|125778|255044|255044|321078|321082|321094|321095|321099|321113|321115|321116|321117|321121|321122|321123|321124|330240|330240|330241|330246|330247|330249|330252|330254|330266|330269|330275|330278|330285|330286|330289|330296|330302|330308|330316|330317|330321|330326|336728|336729|336729|336730|336732|336733|336754|336762|336763|336767|336768|336779|336790|336808|336809|338737|338739|338744|338744|338747|338748|338752|338754|338755|338758|338759|338765|338767|338772|338773|338776|338777|338781|568253|569009|577364|577367|614153|622845|626017|642667|642668|642669|642670|642671|642672|642673|642673|642674|677120|680052|693590|693591|739304|739304|798677|841713|841714|841715|841716|841717|841718|872417|872418|872419|872420|872421|872422|872423|872424|872425|872426|872427|872428|872429|872430|872431|872432|872433|872434|872435|872436|872437|872438|872439|872440|872441|872442|872443|872444|872445|872446|872447|872448|872449|872450|872451|872452|872453|872454|872455|872456|872457|872458|872459|872460|872461|872462|872463|872464|936704|948648|957292|957293|980493", "text": "Alzheimer disease, type 3" }, { - "baseId": "33162|33163|33164|33166|33170|33175|33182|33184|33187|33194|33195|33196|33880|38560|46864|103896|103907|103914|103918|103940|103945|103957|103986|104001|255044|330240|336729|338744|568253|569009|577364|577367|642667|642668|642669|642670|642671|642672|642673|642674|693591|739304|841713|841714|841715|841716|841717|841718|936704|948648|957292|957293", + "upstreamId": "33162|33163|33164|33166|33170|33175|33182|33184|33187|33194|33195|33196|33880|38560|46864|103896|103907|103914|103918|103940|103945|103957|103986|104001|255044|330240|336729|338744|568253|569009|577364|577367|642667|642668|642669|642670|642671|642672|642673|642674|693591|739304|841713|841714|841715|841716|841717|841718|936704|948648|957292|957293", "text": "Acne inversa, familial, 3" }, { - "baseId": "33171|33173|33178", + "upstreamId": "33171|33173|33178", "text": "Alzheimer disease, familial, with spastic paraparesis and unusual plaques" }, { - "baseId": "33175|33195|103896|103957|103986|255044|321078|321082|321094|321095|321099|321113|321115|321116|321117|321121|321122|321123|321124|330240|330241|330246|330247|330249|330252|330254|330266|330269|330275|330278|330285|330286|330289|330296|330302|330308|330316|330317|330321|330326|336728|336729|336730|336732|336733|336754|336762|336763|336767|336768|336779|336790|336808|336809|338737|338739|338744|338747|338748|338752|338754|338755|338758|338759|338765|338767|338772|338773|338776|338777|338781|642673|693590|739304|872417|872418|872419|872420|872421|872422|872423|872424|872425|872426|872427|872428|872429|872430|872431|872432|872433|872434|872435|872436|872437|872438|872439|872440|872441|872442|872443|872444|872445|872446|872447|872448|872449|872450|872451|872452|872453|872454|872455|872456|872457|872458|872459|872460|872461|872462|872463|872464", + "upstreamId": "33175|33195|103896|103957|103986|255044|321078|321082|321094|321095|321099|321113|321115|321116|321117|321121|321122|321123|321124|330240|330241|330246|330247|330249|330252|330254|330266|330269|330275|330278|330285|330286|330289|330296|330302|330308|330316|330317|330321|330326|336728|336729|336730|336732|336733|336754|336762|336763|336767|336768|336779|336790|336808|336809|338737|338739|338744|338747|338748|338752|338754|338755|338758|338759|338765|338767|338772|338773|338776|338777|338781|642673|693590|739304|872417|872418|872419|872420|872421|872422|872423|872424|872425|872426|872427|872428|872429|872430|872431|872432|872433|872434|872435|872436|872437|872438|872439|872440|872441|872442|872443|872444|872445|872446|872447|872448|872449|872450|872451|872452|872453|872454|872455|872456|872457|872458|872459|872460|872461|872462|872463|872464", "text": "Cardiomyopathy, dilated, 1u" }, { - "baseId": "33183|33192", + "upstreamId": "33183|33192", "text": "Alzheimer disease, familial, 3, with spastic paraparesis and apraxia" }, { - "baseId": "33187|33198", + "upstreamId": "33187|33198", "text": "Alzheimer disease, familial, 3, with unusual plaques" }, { - "baseId": "33190|33193", + "upstreamId": "33190|33193", "text": "Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques" }, { - "baseId": "33201|33201|33204|193403|195223|209357|338339|338345|338346|338348|347988|347989|347992|347993|347994|347997|347998|348003|348005|348006|351725|351726|351728|351729|351731|351735|351736|351737|351738|351740|351741|351742|351744|352616|352617|352618|352619|352620|352621|352621|352622|352623|352624|574145|575274|575275|649535|649536|649537|717487|729224|742946|742947|742948|742949|745348|758120|849391|891370|891371|891372|891373|891374|891375|891376|891377|891378|891379|891380|891381|891382|891383|891384|891385|891386|891387|891388|929500", + "upstreamId": "33201|33201|33204|193403|195223|209357|338339|338345|338346|338348|347988|347989|347992|347993|347994|347997|347998|348003|348005|348006|351725|351726|351728|351729|351731|351735|351736|351737|351738|351740|351741|351742|351744|352616|352617|352618|352619|352620|352621|352621|352622|352623|352624|574145|575274|575275|649535|649536|649537|717487|729224|742946|742947|742948|742949|745348|758120|849391|891370|891371|891372|891373|891374|891375|891376|891377|891378|891379|891380|891381|891382|891383|891384|891385|891386|891387|891388|929500", "text": "Alpha-N-acetylgalactosaminidase deficiency type 1" }, { - "baseId": "33201", + "upstreamId": "33201", "text": "Alpha-N-acetylgalactosaminidase deficiency" }, { - "baseId": "33201|33201|33202|33203|33204|33205|193403|195223|338339|338345|338346|338348|347988|347989|347992|347993|347994|347997|347998|348003|348005|348006|351725|351726|351728|351729|351731|351735|351736|351737|351738|351740|351741|351742|351744|352616|352617|352618|352619|352620|352621|352621|352622|352623|352624|717487|729224|758120|891370|891371|891372|891373|891374|891375|891376|891377|891378|891379|891380|891381|891382|891383|891384|891385|891386|891387|891388|920430", + "upstreamId": "33201|33201|33202|33203|33204|33205|193403|195223|338339|338345|338346|338348|347988|347989|347992|347993|347994|347997|347998|348003|348005|348006|351725|351726|351728|351729|351731|351735|351736|351737|351738|351740|351741|351742|351744|352616|352617|352618|352619|352620|352621|352621|352622|352623|352624|717487|729224|758120|891370|891371|891372|891373|891374|891375|891376|891377|891378|891379|891380|891381|891382|891383|891384|891385|891386|891387|891388|920430", "text": "Alpha-N-acetylgalactosaminidase deficiency type 2" }, { - "baseId": "33204", + "upstreamId": "33204", "text": "Schindler disease, type 3" }, { - "baseId": "33205|620691", + "upstreamId": "33205|620691", "text": "NAGA-Related Disorders" }, { - "baseId": "33207|205354", + "upstreamId": "33207|205354", "text": "Alpha-fetoprotein, hereditary persistence of" }, { - "baseId": "33208|33209", + "upstreamId": "33208|33209", "text": "Alpha-fetoprotein deficiency" }, { - "baseId": "33210|33211|33212|33213|390084", + "upstreamId": "33210|33211|33212|33213|390084", "text": "ALPHA-2-MACROGLOBULIN POLYMORPHISM" }, { - "baseId": "33216|33217|324993|324996|324997|325002|334656|334661|334670|334679|334682|334685|334686|334687|341138|341139|341140|342677|342680|342681|342683|342686|342687|342688|374354|375130|377510|377519|445566|495606|567499", + "upstreamId": "33216|33217|324993|324996|324997|325002|334656|334661|334670|334679|334682|334685|334686|334687|341138|341139|341140|342677|342680|342681|342683|342686|342687|342688|374354|375130|377510|377519|445566|495606|567499", "text": "HNSHA due to aldolase A deficiency" }, { - "baseId": "33218|33219|33221|33222|33429", + "upstreamId": "33218|33219|33221|33222|33429", "text": "Alcohol dependence" }, { - "baseId": "33221", + "upstreamId": "33221", "text": "Aerodigestive tract cancer, squamous cell, alcohol-related, protection against" }, { - "baseId": "33223", + "upstreamId": "33223", "text": "PROALBUMIN LILLE" }, { - "baseId": "33225", + "upstreamId": "33225", "text": "PROALBUMIN TAKEFU" }, { - "baseId": "33226", + "upstreamId": "33226", "text": "ALBUMIN BLENHEIM" }, { - "baseId": "33227", + "upstreamId": "33227", "text": "ALBUMIN NAGASAKI 3" }, { - "baseId": "33228", + "upstreamId": "33228", "text": "ALBUMIN YANOMAMA 2" }, { - "baseId": "33229", + "upstreamId": "33229", "text": "ALBUMIN NAGOYA" }, { - "baseId": "33231", + "upstreamId": "33231", "text": "ALBUMIN TAGLIACOZZO" }, { - "baseId": "33231|33252|33258|33259|33264|33266|33277|33278|294150|294151|294156|294159|294171|294172|295662|295666|295684|295692|295696|295697|295698|299435|299436|299437|299439|299444|299451|299454|299457|299459|299464|299465|299466|299470|299473|779052|892201|892202|892203|892204|892205|892206|892207|892208|892209|892210|892211|892212|892213|892214|892215|892216|892217|892218|892219|895995", + "upstreamId": "33231|33252|33258|33259|33264|33266|33277|33278|294150|294151|294156|294159|294171|294172|295662|295666|295684|295692|295696|295697|295698|299435|299436|299437|299439|299444|299451|299454|299457|299459|299464|299465|299466|299470|299473|779052|892201|892202|892203|892204|892205|892206|892207|892208|892209|892210|892211|892212|892213|892214|892215|892216|892217|892218|892219|895995", "text": "Hyperthyroxinemia, familial dysalbuminemic" }, { - "baseId": "33232", + "upstreamId": "33232", "text": "ALBUMIN REDHILL" }, { - "baseId": "33233", + "upstreamId": "33233", "text": "ALBUMIN ROMA" }, { - "baseId": "33234", + "upstreamId": "33234", "text": "ALBUMIN HIROSHIMA 1" }, { - "baseId": "33235", + "upstreamId": "33235", "text": "ALBUMIN COARI I" }, { - "baseId": "33236", + "upstreamId": "33236", "text": "ALBUMIN PARKLANDS" }, { - "baseId": "33237", + "upstreamId": "33237", "text": "ALBUMIN NASKAPI" }, { - "baseId": "33238", + "upstreamId": "33238", "text": "ALBUMIN NAGASAKI 2" }, { - "baseId": "33239", + "upstreamId": "33239", "text": "ALBUMIN TOCHIGI" }, { - "baseId": "33240", + "upstreamId": "33240", "text": "ALBUMIN HIROSHIMA 2" }, { - "baseId": "33241", + "upstreamId": "33241", "text": "ALBUMIN VANCOUVER" }, { - "baseId": "33243", + "upstreamId": "33243", "text": "ALBUMIN MEXICO 2" }, { - "baseId": "33244", + "upstreamId": "33244", "text": "ALBUMIN FUKUOKA 1" }, { - "baseId": "33245", + "upstreamId": "33245", "text": "ALBUMIN OSAKA 1" }, { - "baseId": "33246", + "upstreamId": "33246", "text": "ALBUMIN B" }, { - "baseId": "33248", + "upstreamId": "33248", "text": "ALBUMIN VANVES" }, { - "baseId": "33249|33263|166089|166091|166092|166093|166094|166099|166100|166102|166103|166104|624071", + "upstreamId": "33249|33263|166089|166091|166092|166093|166094|166099|166100|166102|166103|166104|624071", "text": "Analbuminemia" }, { - "baseId": "33250", + "upstreamId": "33250", "text": "ALBUMIN VENEZIA" }, { - "baseId": "33251", + "upstreamId": "33251", "text": "ALBUMIN CASTEL DI SANGRO" }, { - "baseId": "33252", + "upstreamId": "33252", "text": "PROALBUMIN MALMO" }, { - "baseId": "33253", + "upstreamId": "33253", "text": "PROALBUMIN JAFFNA" }, { - "baseId": "33254", + "upstreamId": "33254", "text": "ALBUMIN HAWKES BAY" }, { - "baseId": "33256", + "upstreamId": "33256", "text": "ALBUMIN TORINO" }, { - "baseId": "33257", + "upstreamId": "33257", "text": "ALBUMIN VIBO VALENTIA" }, { - "baseId": "33258", + "upstreamId": "33258", "text": "ALBUMIN CASEBROOK" }, { - "baseId": "33259", + "upstreamId": "33259", "text": "ALBUMIN IOWA CITY 1" }, { - "baseId": "33260", + "upstreamId": "33260", "text": "ALBUMIN KOMAGOME 2" }, { - "baseId": "33261", + "upstreamId": "33261", "text": "ALBUMIN RUGBY PARK" }, { - "baseId": "33262", + "upstreamId": "33262", "text": "ALBUMIN HERBORN" }, { - "baseId": "33265", + "upstreamId": "33265", "text": "ALBUMIN LARINO" }, { - "baseId": "33266", + "upstreamId": "33266", "text": "ALBUMIN TRADATE 2" }, { - "baseId": "33267", + "upstreamId": "33267", "text": "ALBUMIN CASERTA" }, { - "baseId": "33268", + "upstreamId": "33268", "text": "ALBUMIN BAZZANO" }, { - "baseId": "33269", + "upstreamId": "33269", "text": "ALBUMIN ASOLA" }, { - "baseId": "33270", + "upstreamId": "33270", "text": "ALBUMIN MALMO-95" }, { - "baseId": "33271", + "upstreamId": "33271", "text": "ALBUMIN MALMO-10" }, { - "baseId": "33272", + "upstreamId": "33272", "text": "ALBUMIN MALMO-47" }, { - "baseId": "33273", + "upstreamId": "33273", "text": "ALBUMIN SONDRIA" }, { - "baseId": "33274", + "upstreamId": "33274", "text": "ALBUMIN MALMO-5" }, { - "baseId": "33275", + "upstreamId": "33275", "text": "ALBUMIN DUBLIN" }, { - "baseId": "33276", + "upstreamId": "33276", "text": "ALBUMIN ORTONOVO" }, { - "baseId": "33279", + "upstreamId": "33279", "text": "Analbuminemia baghdad" }, { - "baseId": 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"text": "Myasthenic syndrome, congenital, 8" }, { - "baseId": "33282|33283|172167|172168", + "upstreamId": "33282|33283|172167|172168", "text": "Wilms tumor 2" }, { - "baseId": "33284|33285|33286|33287|33288|142855|142856|211025|292924|292925|292939|292946|292948|292953|292962|292964|292966|294301|294302|294306|294314|294317|294328|294329|294335|294338|294347|294350|294351|294353|297754|297773|297775|297786|297794|297800|297803|297804|297860|297861|297862|297872|297875|297877|297887|297888|679431|890501|890502|890503|890504|890505|890506|890507|890508|890509|890510|890511|890512|890513|890514|890515|890516|890517|890518|890519|890520|890521|890522|890523|890524|890525|890526|890527|890528", + "upstreamId": "33284|33285|33286|33287|33288|142855|142856|211025|292924|292925|292939|292946|292948|292953|292962|292964|292966|294301|294302|294306|294314|294317|294328|294329|294335|294338|294347|294350|294351|294353|297754|297773|297775|297786|297794|297800|297803|297804|297860|297861|297862|297872|297875|297877|297887|297888|679431|890501|890502|890503|890504|890505|890506|890507|890508|890509|890510|890511|890512|890513|890514|890515|890516|890517|890518|890519|890520|890521|890522|890523|890524|890525|890526|890527|890528", "text": "Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2" }, { - "baseId": "33288|76919|263776|263777|553379", + "upstreamId": "33288|76919|263776|263777|553379", "text": "Mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive" }, { - "baseId": "33288|201345|513982", + "upstreamId": "33288|201345|513982", "text": "Vertigo" }, { - "baseId": "33288|51905|171147|177203|189973|198075|198264|198952|240006|259847|400327|488530|551741|551746|621903|621904", + "upstreamId": "33288|51905|171147|177203|189973|198075|198264|198952|240006|259847|400327|488530|551741|551746|621903|621904", "text": "Left ventricular hypertrophy" }, { - "baseId": "33288", + "upstreamId": "33288", "text": "Abnormality of mitochondrial metabolism" }, { - "baseId": "33288", + "upstreamId": "33288", "text": "Mitochondrial respiratory chain defects" }, { - "baseId": "33289|33290|33291|33292|33293|33294|33295|33297|33298|33299|33300|33301|140030|188786|439807|447822|448089|448120|498579|515822|515847|515860|515909|515911|515915|556504|557031|557033|558483|558485|627767|627768|627769|627770|627771|627772|627773|627774|627775|627776|627777|627778|627779|627780|627781|650655|690584|690585|732392|732393|743745|746431|746432|823894|823895|823896|823897|823898|921995|921996|921997|921998|930472|952392", + "upstreamId": "33289|33290|33291|33292|33293|33294|33295|33297|33298|33299|33300|33301|140030|188786|439807|447822|448089|448120|498579|515822|515847|515860|515909|515911|515915|556504|557031|557033|558483|558485|627767|627768|627769|627770|627771|627772|627773|627774|627775|627776|627777|627778|627779|627780|627781|650655|690584|690585|732392|732393|743745|746431|746432|823894|823895|823896|823897|823898|921995|921996|921997|921998|930472|952392", "text": "Reticular dysgenesis" }, { - "baseId": "33302|33303|33304|33305|33306|33307|33308|389880|433354|609719|799577|799578|799579", + "upstreamId": "33302|33303|33304|33305|33306|33307|33308|389880|433354|609719|799577|799578|799579", "text": "Adenylate kinase deficiency, hemolytic anemia due to" }, { - "baseId": 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"33309|99376|177486|190776|191176|195606|195919|312171|312172|312184|312186|312188|312190|312193|312194|312202|312203|312209|312213|312216|312217|312219|317937|317943|317955|317957|317958|317959|317964|317966|317975|317977|317978|323998|324002|324003|324004|324006|324007|324011|324018|324026|324027|324028|324732|324733|324754|324756|324768|324770|324773|324776|324785|324810|324812|324813|324814|324832|324834|324844|324845|324852|324866|701541|701542|866894|866895|866896|866897|866898|866899|866900|866901|866902|866903|866904|866905|866906|866907|866908|866909|866910|866911|866912|866913|866914|866915|866916|866917|866918|866919|866920|866921|866922|866923|866924|866925|866926|866927|866928|866929|866930|866931|866932|866933|866934|866935|868593|868594|868595|868596", "text": "Erythrocyte AMP deaminase deficiency" }, { - "baseId": "33310|33311|33312|97347|98241|98243|98244|98245|98246|98249|177319|177482|177483|177484|177485|194781|270892|275938|276232|276344|515028|538326|549851|556855|626657|626658|650518|706593|758825|822575|920123|921598", + "upstreamId": "33310|33311|33312|97347|98241|98243|98244|98245|98246|98249|177319|177482|177483|177484|177485|194781|270892|275938|276232|276344|515028|538326|549851|556855|626657|626658|650518|706593|758825|822575|920123|921598", "text": "Muscle AMP deaminase deficiency" }, { - "baseId": "33313", + "upstreamId": "33313", "text": "furosemide and spironolactone response - Efficacy" }, { - "baseId": "33314|611397|961609", + "upstreamId": "33314|611397|961609", "text": "Developmental malformations-deafness-dystonia syndrome" }, { - "baseId": "33314|38553|38554|38555|38556|76956|132659|132660|132661|132662|132663|132664|132665|132666|132667|132668|132669|132670|133711|133712|133713|199788|214776|259236|259867|264344|275077|275078|369485|369492|369760|369768|371162|371165|371180|424622|431916|431917|439880|457795|457806|457809|457811|481330|486791|486792|486793|501752|501754|502395|511009|522949|522960|522967|523318|561639|561995|564314|611397|636203|683918|683919|683921|683922|687076|687077|687078|687079|687080|687081|687083|689881|689883|798586|816466|833728|906195|919107|924876|924877|945719|955181|961609|964293|964834|970524|970860", + "upstreamId": "33314|38553|38554|38555|38556|76956|132659|132660|132661|132662|132663|132664|132665|132666|132667|132668|132669|132670|133711|133712|133713|199788|214776|259236|259867|264344|275077|275078|369485|369492|369760|369768|371162|371165|371180|424622|431916|431917|439880|457795|457806|457809|457811|481330|486791|486792|486793|501752|501754|502395|511009|522949|522960|522967|523318|561639|561995|564314|611397|636203|683918|683919|683921|683922|687076|687077|687078|687079|687080|687081|687083|689881|689883|798586|816466|833728|906195|919107|924876|924877|945719|955181|961609|964293|964834|970524|970860", "text": "Baraitser-Winter syndrome 1" }, { - "baseId": "33315|33316|33317|38552|38552|45281|53385|53386|76366|76367|139981|175327|197388|197393|197394|197396|197398|197402|197403|197832|227843|240891|240893|258662|258664|258665|258666|258668|258670|258672|258674|258675|259943|311573|311576|311579|317167|317169|323194|323198|350049|370978|370981|371600|371895|373591|373592|397529|397530|397973|398092|408018|460315|460317|460386|461149|461151|487766|502942|503845|510243|510244|525523|525527|525592|525595|525597|525598|525813|525937|525940|564034|564036|564038|564382|564889|566604|566606|569873|569887|582201|617616|624412|624413|639295|639296|639297|639298|639299|687678|768050|791010|820275|837454|837455|837456|837457|837458|852281|866511|866512|866513|866514|866515|866516|868528|911279|925973|935227|935228|947128|956270|956271|966481|967191", + "upstreamId": "33315|33316|33317|38552|38552|45281|53385|53386|76366|76367|139981|175327|197388|197393|197394|197396|197398|197402|197403|197832|227843|240891|240893|258662|258664|258665|258666|258668|258670|258672|258674|258675|259943|311573|311576|311579|317167|317169|323194|323198|350049|370978|370981|371600|371895|373591|373592|397529|397530|397973|398092|408018|460315|460317|460386|461149|461151|487766|502942|503845|510243|510244|525523|525527|525592|525595|525597|525598|525813|525937|525940|564034|564036|564038|564382|564889|566604|566606|569873|569887|582201|617616|624412|624413|639295|639296|639297|639298|639299|687678|768050|791010|820275|837454|837455|837456|837457|837458|852281|866511|866512|866513|866514|866515|866516|868528|911279|925973|935227|935228|947128|956270|956271|966481|967191", "text": "Aortic aneurysm, familial thoracic 6" }, { - "baseId": "33315|210379|259161|485695|485735|485756", + "upstreamId": "33315|210379|259161|485695|485735|485756", "text": "Aortic aneurysm, familial thoracic 2" }, { - "baseId": "33316|33317|38552|38552|919302", + "upstreamId": "33316|33317|38552|38552|919302", "text": "Moyamoya disease 5" }, { - "baseId": "33318|33319|33321|33322|33323|33324|33325|33328|33331|51272|51273|59459|99451|99452|99453|99454|99457|99460|132672|133708|193472|206767|206768|226438|228356|249757|249759|259655|279423|279424|279425|279717|280964|281106|281108|281109|361844|364872|364883|364928|364928|405080|414773|447511|447519|447520|447521|447522|447525|447527|447656|447661|447667|447669|447753|447757|447769|447775|447776|447779|447784|447811|447816|447818|447820|447824|447826|447828|447829|511241|515493|515569|515576|515612|515613|515614|552039|552040|556798|556800|556866|556868|556872|556877|556994|556999|557167|557169|558353|558355|608937|608938|627407|627408|627409|627410|627411|627412|627413|627414|627415|627416|627417|627418|627419|679734|679735|690509|690510|690511|696563|746245|746246|780594|789940|789941|789942|798465|805212|818933|823501|823502|823503|823504|823505|823506|823507|823508|823509|823510|823511|823512|850963|851287|858775|863829|863830|863831|863832|863833|863834|863835|921855|921856|921857|921858|921859|921860|921861|930338|941772|941773|941774|963224|963225", + "upstreamId": "33318|33319|33321|33322|33323|33324|33325|33328|33331|51272|51273|59459|99451|99452|99453|99454|99457|99460|132672|133708|193472|206767|206768|226438|228356|249757|249759|259655|279423|279424|279425|279717|280964|281106|281108|281109|361844|364872|364883|364928|364928|405080|414773|447511|447519|447520|447521|447522|447525|447527|447656|447661|447667|447669|447753|447757|447769|447775|447776|447779|447784|447811|447816|447818|447820|447824|447826|447828|447829|511241|515493|515569|515576|515612|515613|515614|552039|552040|556798|556800|556866|556868|556872|556877|556994|556999|557167|557169|558353|558355|608937|608938|627407|627408|627409|627410|627411|627412|627413|627414|627415|627416|627417|627418|627419|679734|679735|690509|690510|690511|696563|746245|746246|780594|789940|789941|789942|798465|805212|818933|823501|823502|823503|823504|823505|823506|823507|823508|823509|823510|823511|823512|850963|851287|858775|863829|863830|863831|863832|863833|863834|863835|921855|921856|921857|921858|921859|921860|921861|930338|941772|941773|941774|963224|963225", "text": "Congenital myopathy with excess of thin filaments" }, { - "baseId": "33320", + "upstreamId": "33320", "text": "Myopathy, actin, congenital, with excess of thin myofilaments" }, { - "baseId": "33322", + "upstreamId": "33322", "text": "ACTA1-related myopathies" }, { - "baseId": "33326|33327", + "upstreamId": "33326|33327", "text": "Myopathy, actin, congenital, with cores" }, { - "baseId": "33333|33334|33335|33336|33337|33338|33339|33340|33341|49434|199814|255948|326781|326785|326786|336613|336616|336623|336625|336637|336644|342867|342871|342872|342882|344511|344518|344520|344521|344525|344528|344533|353363|876140|876141|876142|876143|876144|876145|876146|876154|876734|975954|975955|975956|975957|975958|975959|975960|975961|975962|975963|975964|975965|975966|975967|975968|975969|975970|975971|975972|975973|975974|975975|975976|975977|975978|975979|975980|975981|975982|975983|975984|975985|975986|975987|975988|975989|975990|975991|975992|975993|975994|975995|975996|975997|975998|975999|976000|976001|976002|976003|976004", + "upstreamId": "33333|33334|33335|33336|33337|33338|33339|33340|33341|49434|199814|255948|326781|326785|326786|336613|336616|336623|336625|336637|336644|342867|342871|342872|342882|344511|344518|344520|344521|344525|344528|344533|353363|876140|876141|876142|876143|876144|876145|876146|876154|876734|975954|975955|975956|975957|975958|975959|975960|975961|975962|975963|975964|975965|975966|975967|975968|975969|975970|975971|975972|975973|975974|975975|975976|975977|975978|975979|975980|975981|975982|975983|975984|975985|975986|975987|975988|975989|975990|975991|975992|975993|975994|975995|975996|975997|975998|975999|976000|976001|976002|976003|976004", "text": "Adenine phosphoribosyltransferase deficiency" }, { - "baseId": "33335", + "upstreamId": "33335", "text": "APRT deficiency, Japanese type" }, { - "baseId": "33342|33343|33343|33344|33344|33345|33346|33347|33347|45444|45444|45445|45446|45447|45448|45449|45450|45451|45451|45452|45453|45454|45454|75618|143031|143031|226683|226690|260167|328431|328433|328434|328440|328441|328443|328467|328468|328472|328474|328478|328480|338408|338409|338415|338417|338417|338424|338424|338425|338428|344456|344459|344462|344464|344467|344476|344477|344478|344481|344503|344508|344508|345883|345884|345892|345896|345898|345904|345907|345907|345908|345911|345915|360444|378188|378191|409927|422166|424450|445773|467668|486616|487705|505911|505914|505914|506816|506816|531014|531513|531516|531519|531531|569047|571120|571120|571121|571136|571358|571370|574457|574458|574459|574460|621567|621568|645887|645888|645889|645890|645891|645892|645893|645894|645895|645896|645897|645898|645899|645900|653270|727181|740752|740753|740754|740754|745289|755847|755848|755849|755850|771497|771498|771499|771500|788119|788121|791744|845333|845334|845335|845336|845337|845338|845339|845340|845341|877505|877506|877507|877508|877509|877510|877511|877512|877513|877514|877515|877516|877517|877518|877518|877519|877520|877521|877522|877523|877524|877525|880518|880519|928261|928262|928263|928264|928265|928266|928267|937929|937930|937931|940412|941181|949918|949919|949920|958106|960885|960886|965877", + "upstreamId": "33342|33343|33343|33344|33344|33345|33346|33347|33347|45444|45444|45445|45446|45447|45448|45449|45450|45451|45451|45452|45453|45454|45454|75618|143031|143031|226683|226690|260167|328431|328433|328434|328440|328441|328443|328467|328468|328472|328474|328478|328480|338408|338409|338415|338417|338417|338424|338424|338425|338428|344456|344459|344462|344464|344467|344476|344477|344478|344481|344503|344508|344508|345883|345884|345892|345896|345898|345904|345907|345907|345908|345911|345915|360444|378188|378191|409927|422166|424450|445773|467668|486616|487705|505911|505914|505914|506816|506816|531014|531513|531516|531519|531531|569047|571120|571120|571121|571136|571358|571370|574457|574458|574459|574460|621567|621568|645887|645888|645889|645890|645891|645892|645893|645894|645895|645896|645897|645898|645899|645900|653270|727181|740752|740753|740754|740754|745289|755847|755848|755849|755850|771497|771498|771499|771500|788119|788121|791744|845333|845334|845335|845336|845337|845338|845339|845340|845341|877505|877506|877507|877508|877509|877510|877511|877512|877513|877514|877515|877516|877517|877518|877518|877519|877520|877521|877522|877523|877524|877525|880518|880519|928261|928262|928263|928264|928265|928266|928267|937929|937930|937931|940412|941181|949918|949919|949920|958106|960885|960886|965877", "text": "Hyper-IgE recurrent infection syndrome 1, autosomal dominant" }, { - "baseId": "33343|33344|33347|45444|45451|45454|143031|226683|226690|260167|338417|338424|344508|345907|360444|378188|378191|409927|422166|445773|467668|487705|505911|505914|506816|531014|531513|531516|531519|531531|569047|571120|571121|571136|571358|571370|574457|574458|574459|574460|621567|621568|645887|645888|645889|645890|645891|645892|645893|645894|645895|645896|645897|645898|645899|645900|653270|727181|740752|740753|740754|745289|755847|755848|755849|755850|771497|771498|771499|771500|788119|788121|845333|845334|845335|845336|845337|845338|845339|845340|845341|877518|928261|928262|928263|928264|928265|928266|928267|937929|937930|937931|940412|941181|949918|949919|949920|958106|960885|960886", + "upstreamId": "33343|33344|33347|45444|45451|45454|143031|226683|226690|260167|338417|338424|344508|345907|360444|378188|378191|409927|422166|445773|467668|487705|505911|505914|506816|531014|531513|531516|531519|531531|569047|571120|571121|571136|571358|571370|574457|574458|574459|574460|621567|621568|645887|645888|645889|645890|645891|645892|645893|645894|645895|645896|645897|645898|645899|645900|653270|727181|740752|740753|740754|745289|755847|755848|755849|755850|771497|771498|771499|771500|788119|788121|845333|845334|845335|845336|845337|845338|845339|845340|845341|877518|928261|928262|928263|928264|928265|928266|928267|937929|937930|937931|940412|941181|949918|949919|949920|958106|960885|960886", "text": "STAT3 gain of function" }, { - "baseId": "33347|137057|137058|166237|174690|176632|260167|308206|308440|308499|308512|318386|319408|328429|328479|338410|344453|344510|345882|345900|345901|353855|621568", + "upstreamId": "33347|137057|137058|166237|174690|176632|260167|308206|308440|308499|308512|318386|319408|328429|328479|338410|344453|344510|345882|345900|345901|353855|621568", "text": "Hyper-IgE syndrome" }, { - "baseId": "33348|33349|33350|38547|38548|38549|38550|38551|205405|213526|250303|250304|250305|282323|282333|282334|282339|282340|282348|282350|282351|283009|283010|283012|283013|283020|284579|284580|284581|284582|284583|284590|284594|284599|284600|284603|284982|284989|285001|285002|285006|285025|285029|285041|285044|759036|881263|881264|881265|881266|881267|881268|881269|881270|881271|881272|881273|882818|882819|961502|965346", + "upstreamId": "33348|33349|33350|38547|38548|38549|38550|38551|205405|213526|250303|250304|250305|282323|282333|282334|282339|282340|282348|282350|282351|283009|283010|283012|283013|283020|284579|284580|284581|284582|284583|284590|284594|284599|284600|284603|284982|284989|285001|285002|285006|285025|285029|285041|285044|759036|881263|881264|881265|881266|881267|881268|881269|881270|881271|881272|881273|882818|882819|961502|965346", "text": "Progressive myositis ossificans" }, { - "baseId": "33351", + "upstreamId": "33351", "text": "ACTININ, ALPHA-3 POLYMORPHISM" }, { - "baseId": "33351", + "upstreamId": "33351", "text": "ACTN3 deficiency" }, { - "baseId": "33351", + "upstreamId": "33351", "text": "Sprinting performance" }, { - "baseId": 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"text": "Dilated cardiomyopathy 1AA" }, { - "baseId": 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"text": "Myofibrillar myopathy, filamin C-related" }, { - "baseId": 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"text": "Myopathy, distal, 4" }, { - "baseId": 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"text": "Dilated Cardiomyopathy, Dominant" }, { - "baseId": 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"text": "Cardiomyopathy, familial hypertrophic, 26" }, { - "baseId": "33354|33355|33356|33357|33358|33359|33360|33361|38544|53316|53317|133720|176739|176746|178232|178233|178277|178309|208421|231325|231329|231330|269772|272126|376793|376801|378844|378858|378864|378867|433340|467703|490935|492667|497861|497892|506476|506802|507230|532015|532090|532383|553005|553006|646969|694220|694221|694223|695783|704457|704458|704462|791845|798726|966363", + "upstreamId": "33354|33355|33356|33357|33358|33359|33360|33361|38544|53316|53317|133720|176739|176746|178232|178233|178277|178309|208421|231325|231329|231330|269772|272126|376793|376801|378844|378858|378864|378867|433340|467703|490935|492667|497861|497892|506476|506802|507230|532015|532090|532383|553005|553006|646969|694220|694221|694223|695783|704457|704458|704462|791845|798726|966363", "text": "Deafness, autosomal dominant 20" }, { - "baseId": "33362|33362|33363|33365|33368|33370|54338|54339|54342|54345|54346|54348|54353|54358|54359|54361|54361|65597|65597|65598|139983|139983|139984|175955|175958|176101|179718|179721|179723|179724|179729|179733|179735|179737|179741|179743|193567|214543|222416|242032|322265|322269|322277|322280|322282|322283|322294|322300|322301|322304|322310|322312|322312|331584|331588|331590|331592|331593|331602|331634|331640|331647|338516|338517|338520|338523|338524|338564|338580|338586|338595|338606|340276|340281|340298|340305|340306|340312|340332|340332|340333|376392|376394|400055|400228|400230|400236|400868|400869|400871|400877|464140|464140|464144|464146|464148|464149|464958|464959|464980|504726|505620|505620|511121|528723|528755|528764|528954|529101|529231|529233|529234|529247|529248|566975|566976|568705|615097|618240|643102|643103|643104|643105|643106|643107|643108|643109|643110|643111|653034|667999|684533|695637|820687|842232|842233|842234|842235|842236|842237|873259|873260|873261|873262|873263|873264|873265|873266|873267|873268|873269|873270|873271|873272|873273|873274|873275|873276|873277|873278|873279|873280|873281|873282|873283|873284|873285|873286|873287|873288|873289|873290|873291|916260|927298|927299|936898|948847|948848|948849|957395", + "upstreamId": "33362|33362|33363|33365|33368|33370|54338|54339|54342|54345|54346|54348|54353|54358|54359|54361|54361|65597|65597|65598|139983|139983|139984|175955|175958|176101|179718|179721|179723|179724|179729|179733|179735|179737|179741|179743|193567|214543|222416|242032|322265|322269|322277|322280|322282|322283|322294|322300|322301|322304|322310|322312|322312|331584|331588|331590|331592|331593|331602|331634|331640|331647|338516|338517|338520|338523|338524|338564|338580|338586|338595|338606|340276|340281|340298|340305|340306|340312|340332|340332|340333|376392|376394|400055|400228|400230|400236|400868|400869|400871|400877|464140|464140|464144|464146|464148|464149|464958|464959|464980|504726|505620|505620|511121|528723|528755|528764|528954|529101|529231|529233|529234|529247|529248|566975|566976|568705|615097|618240|643102|643103|643104|643105|643106|643107|643108|643109|643110|643111|653034|667999|684533|695637|820687|842232|842233|842234|842235|842236|842237|873259|873260|873261|873262|873263|873264|873265|873266|873267|873268|873269|873270|873271|873272|873273|873274|873275|873276|873277|873278|873279|873280|873281|873282|873283|873284|873285|873286|873287|873288|873289|873290|873291|916260|927298|927299|936898|948847|948848|948849|957395", "text": "Dilated cardiomyopathy 1R" }, { - "baseId": "33362|33365|33366|33367|33368|33370|54338|54339|54342|54345|54346|54348|54353|54358|54359|54361|65597|65598|139983|175955|175958|176101|179718|179721|179723|179724|179729|179733|179735|179737|179741|179743|193567|222416|242032|322312|340332|376392|376394|400055|400228|400230|400236|400868|400869|400871|400877|464140|464144|464146|464148|464149|464958|464959|464980|504726|505620|511121|528723|528755|528764|528954|529101|529231|529233|529234|529247|529248|566975|566976|568705|615097|618240|643102|643103|643104|643105|643106|643107|643108|643109|643110|643111|653034|667999|684533|695637|820687|842232|842233|842234|842235|842236|842237|916260|927298|927299|936898|948847|948848|948849|957395", + "upstreamId": "33362|33365|33366|33367|33368|33370|54338|54339|54342|54345|54346|54348|54353|54358|54359|54361|65597|65598|139983|175955|175958|176101|179718|179721|179723|179724|179729|179733|179735|179737|179741|179743|193567|222416|242032|322312|340332|376392|376394|400055|400228|400230|400236|400868|400869|400871|400877|464140|464144|464146|464148|464149|464958|464959|464980|504726|505620|511121|528723|528755|528764|528954|529101|529231|529233|529234|529247|529248|566975|566976|568705|615097|618240|643102|643103|643104|643105|643106|643107|643108|643109|643110|643111|653034|667999|684533|695637|820687|842232|842233|842234|842235|842236|842237|916260|927298|927299|936898|948847|948848|948849|957395", "text": "Atrial septal defect 5" }, { - "baseId": "33362|33364|33365|33365|33368|33368|33369|33370|33370|54338|54339|54342|54345|54346|54348|54353|54358|54359|54361|54361|65597|65597|65598|139983|139983|139984|175955|175958|176101|179718|179721|179723|179724|179729|179733|179735|179737|179741|179743|193567|214137|214543|222416|242032|322265|322269|322277|322280|322282|322283|322294|322300|322301|322304|322310|322312|322312|331584|331588|331590|331592|331593|331602|331634|331640|331647|338516|338517|338520|338523|338524|338564|338580|338586|338595|338606|340276|340281|340298|340305|340306|340312|340332|340332|340333|376392|376394|400055|400228|400230|400236|400868|400869|400871|400877|464140|464140|464144|464146|464148|464149|464958|464959|464980|504726|505620|505620|511121|528723|528755|528764|528954|529101|529231|529233|529234|529247|529248|566975|566976|568705|615097|618240|643102|643103|643104|643105|643106|643107|643108|643109|643110|643111|653034|667999|684533|695637|820687|842232|842233|842234|842235|842236|842237|873259|873260|873261|873262|873263|873264|873265|873266|873267|873268|873269|873270|873271|873272|873273|873274|873275|873276|873277|873278|873279|873280|873281|873282|873283|873284|873285|873286|873287|873288|873289|873290|873291|916260|927298|927299|936898|948847|948848|948849|957395", + "upstreamId": "33362|33364|33365|33365|33368|33368|33369|33370|33370|54338|54339|54342|54345|54346|54348|54353|54358|54359|54361|54361|65597|65597|65598|139983|139983|139984|175955|175958|176101|179718|179721|179723|179724|179729|179733|179735|179737|179741|179743|193567|214137|214543|222416|242032|322265|322269|322277|322280|322282|322283|322294|322300|322301|322304|322310|322312|322312|331584|331588|331590|331592|331593|331602|331634|331640|331647|338516|338517|338520|338523|338524|338564|338580|338586|338595|338606|340276|340281|340298|340305|340306|340312|340332|340332|340333|376392|376394|400055|400228|400230|400236|400868|400869|400871|400877|464140|464140|464144|464146|464148|464149|464958|464959|464980|504726|505620|505620|511121|528723|528755|528764|528954|529101|529231|529233|529234|529247|529248|566975|566976|568705|615097|618240|643102|643103|643104|643105|643106|643107|643108|643109|643110|643111|653034|667999|684533|695637|820687|842232|842233|842234|842235|842236|842237|873259|873260|873261|873262|873263|873264|873265|873266|873267|873268|873269|873270|873271|873272|873273|873274|873275|873276|873277|873278|873279|873280|873281|873282|873283|873284|873285|873286|873287|873288|873289|873290|873291|916260|927298|927299|936898|948847|948848|948849|957395", "text": "Familial hypertrophic cardiomyopathy 11" }, { - "baseId": "33370", + "upstreamId": "33370", "text": "Left ventricular noncompaction 4" }, { - "baseId": "33374", + "upstreamId": "33374", "text": "YT BLOOD GROUP POLYMORPHISM" }, { - "baseId": "33375|33376|33377|33378|33379|33380|33381|38537|191227|195343|195688|196264|214403|236956|236956|237286|250402|250667|250668|250669|250670|266272|269668|274055|282964|283798|285276|285284|285298|285299|285306|285311|285312|285318|285319|285324|285836|285922|285941|285949|285958|285959|285960|285961|285962|285964|285966|285969|285970|288248|288264|288265|288266|288274|288276|288284|288306|288310|288685|288689|288690|288707|288716|288731|288732|288738|363715|384512|405661|405662|426713|443183|489164|538346|788751|790211|804994|884130|884140|884141|884142|884143|884144|884145|884146|884147|884148|884149|884150|884151|884152|884153|884154|884155|884156|884157|884158|884159|884160|884161|884162|884163|884164|884165|884166|884167|887317|887318|918753", + "upstreamId": "33375|33376|33377|33378|33379|33380|33381|38537|191227|195343|195688|196264|214403|236956|236956|237286|250402|250667|250668|250669|250670|266272|269668|274055|282964|283798|285276|285284|285298|285299|285306|285311|285312|285318|285319|285324|285836|285922|285941|285949|285958|285959|285960|285961|285962|285964|285966|285969|285970|288248|288264|288265|288266|288274|288276|288284|288306|288310|288685|288689|288690|288707|288716|288731|288732|288738|363715|384512|405661|405662|426713|443183|489164|538346|788751|790211|804994|884130|884140|884141|884142|884143|884144|884145|884146|884147|884148|884149|884150|884151|884152|884153|884154|884155|884156|884157|884158|884159|884160|884161|884162|884163|884164|884165|884166|884167|887317|887318|918753", "text": "Autosomal recessive multiple pterygium syndrome" }, { - "baseId": "33375|538346|724728|966718|966719|966721", + "upstreamId": "33375|538346|724728|966718|966719|966721", "text": "Ankle contracture" }, { - "baseId": "33375|39548|49024|136760|185948|263200|263296|360998|361017|361048|485813|514187|514310|514311|538346|626373|682328|682329|682330|682331|682332|682333|682334|682335|682336|682337|682338|682339|920586", + "upstreamId": "33375|39548|49024|136760|185948|263200|263296|360998|361017|361048|485813|514187|514310|514311|538346|626373|682328|682329|682330|682331|682332|682333|682334|682335|682336|682337|682338|682339|920586", "text": "Scoliosis" }, { - "baseId": "33375|538346", + "upstreamId": "33375|538346", "text": "Arthrogryposis-like hand anomaly" }, { - "baseId": "33376|33379|33381|33402|33407|33408|33409|33416|33418|33427|33428|38536|38537|134182|134183|134184|134204|134205|134206|134207|139373|190288|190766|191169|191227|192261|195200|195343|195550|195688|195909|196198|196264|206906|206949|236956|236956|237286|250660|250661|250667|250668|250670|265660|265660|266272|267375|267375|269668|270135|270617|270618|272295|274055|274172|282956|282959|283772|283773|283774|283775|283797|283803|283808|285265|285276|285277|285281|285284|285294|285296|285298|285299|285306|285311|285318|285319|285324|285404|285409|285413|285430|285431|285435|285437|285438|285819|285820|285822|285832|285833|285838|285906|285917|285922|285932|285940|285941|285943|285949|285950|285951|285956|285958|285959|285960|285961|285962|285964|288234|288235|288236|288242|288262|288264|288265|288266|288274|288276|288284|288657|288667|288668|288669|288670|288680|288681|288686|288688|288689|288690|288707|288716|288731|288732|288738|359351|363715|365698|367085|389195|405656|405661|413590|426713|443058|448551|448988|448991|448996|449165|449171|449173|449174|449262|449269|449296|449298|450493|450494|450497|450509|450517|450638|450640|450643|450808|450816|450856|480725|486265|489164|514462|516221|516697|516738|516741|516742|516746|516748|517902|517908|517910|517914|517949|517961|517962|517965|518029|518034|538346|557696|557698|557700|557702|557729|557938|557999|558915|558917|558919|559177|559179|559181|559183|559400|561093|576669|576670|578401|629016|629017|629018|629019|629020|629021|629022|629023|629024|629025|629026|629027|629028|629029|629619|629620|629621|629622|629623|629624|629625|650723|650884|650919|650946|650989|690894|690895|690897|690899|691051|691053|691054|691055|691056|691057|695126|697406|697407|697409|719712|733268|759068|762431|763056|763057|763060|780971|781240|781241|790209|790210|825247|825248|825249|825250|825251|825252|825253|825254|825255|825951|825952|825953|825954|825955|825956|825957|825958|825959|825960|825961|825962|825963|850854|851362|881618|881619|881620|881621|881622|881623|881624|881625|881626|881627|881628|881629|881630|884121|884122|884123|884124|884125|884126|884127|884128|884129|884131|884132|884133|884134|884135|884136|884137|884138|884139|884140|884141|884142|884143|884144|884145|884146|884147|884148|884149|884150|884151|884152|884153|884154|884155|884156|884157|884158|884159|884160|884161|884162|884163|884164|884165|884166|884167|887315|887316|887317|887318|922418|922419|922420|922637|922638|930984|930985|930986|930987|931201|931202|931203|931204|942421|942422|942423|942424|942425|942426|942675|942676|942677|942678|952795|952984|952985|959600", + "upstreamId": "33376|33379|33381|33402|33407|33408|33409|33416|33418|33427|33428|38536|38537|134182|134183|134184|134204|134205|134206|134207|139373|190288|190766|191169|191227|192261|195200|195343|195550|195688|195909|196198|196264|206906|206949|236956|236956|237286|250660|250661|250667|250668|250670|265660|265660|266272|267375|267375|269668|270135|270617|270618|272295|274055|274172|282956|282959|283772|283773|283774|283775|283797|283803|283808|285265|285276|285277|285281|285284|285294|285296|285298|285299|285306|285311|285318|285319|285324|285404|285409|285413|285430|285431|285435|285437|285438|285819|285820|285822|285832|285833|285838|285906|285917|285922|285932|285940|285941|285943|285949|285950|285951|285956|285958|285959|285960|285961|285962|285964|288234|288235|288236|288242|288262|288264|288265|288266|288274|288276|288284|288657|288667|288668|288669|288670|288680|288681|288686|288688|288689|288690|288707|288716|288731|288732|288738|359351|363715|365698|367085|389195|405656|405661|413590|426713|443058|448551|448988|448991|448996|449165|449171|449173|449174|449262|449269|449296|449298|450493|450494|450497|450509|450517|450638|450640|450643|450808|450816|450856|480725|486265|489164|514462|516221|516697|516738|516741|516742|516746|516748|517902|517908|517910|517914|517949|517961|517962|517965|518029|518034|538346|557696|557698|557700|557702|557729|557938|557999|558915|558917|558919|559177|559179|559181|559183|559400|561093|576669|576670|578401|629016|629017|629018|629019|629020|629021|629022|629023|629024|629025|629026|629027|629028|629029|629619|629620|629621|629622|629623|629624|629625|650723|650884|650919|650946|650989|690894|690895|690897|690899|691051|691053|691054|691055|691056|691057|695126|697406|697407|697409|719712|733268|759068|762431|763056|763057|763060|780971|781240|781241|790209|790210|825247|825248|825249|825250|825251|825252|825253|825254|825255|825951|825952|825953|825954|825955|825956|825957|825958|825959|825960|825961|825962|825963|850854|851362|881618|881619|881620|881621|881622|881623|881624|881625|881626|881627|881628|881629|881630|884121|884122|884123|884124|884125|884126|884127|884128|884129|884131|884132|884133|884134|884135|884136|884137|884138|884139|884140|884141|884142|884143|884144|884145|884146|884147|884148|884149|884150|884151|884152|884153|884154|884155|884156|884157|884158|884159|884160|884161|884162|884163|884164|884165|884166|884167|887315|887316|887317|887318|922418|922419|922420|922637|922638|930984|930985|930986|930987|931201|931202|931203|931204|942421|942422|942423|942424|942425|942426|942675|942676|942677|942678|952795|952984|952985|959600", "text": "Lethal multiple pterygium syndrome" }, { - "baseId": "33381|443183|620069|620070|620071", + "upstreamId": "33381|443183|620069|620070|620071", "text": "CHRNG-Related Disorders" }, { - "baseId": "33382|33383|33384|33385|33386|33387|33391|33396|33398|33399|48713|48714|134209|134213|134215|134216|134217|139374|244115|244116|244117|256235|256236|256240|256245|256249|256250|266273|268552|268552|270101|272149|272153|329052|329060|329063|339094|339096|339109|339111|339112|339125|345085|345087|345092|346448|346453|346457|346460|360460|378427|410057|410058|410059|413452|429984|441969|445796|466961|466968|466972|467864|467866|467869|467870|467878|467880|467895|467898|467902|467914|468162|468358|468359|468361|468362|468369|491632|506455|531216|531220|531224|531225|531393|531397|531399|531452|531459|531705|531707|531716|569230|569232|569233|569237|569241|571248|571251|571256|571592|571593|571596|574507|574508|574509|574510|577648|620886|646144|646145|646146|646147|646148|646149|646150|646151|646152|646153|646154|646155|646156|646157|646158|646159|646160|646161|646162|646163|652667|652811|652839|652978|653467|688793|694100|694101|694102|694103|694104|694105|694106|715521|740839|740840|740841|740842|740844|744977|745019|755920|755922|755924|771609|771611|771612|771613|771614|771616|771617|771619|776355|776695|776706|785629|785633|791786|821103|821105|845580|845581|845582|845583|845584|845585|845586|845587|845588|845589|845590|845591|845592|845593|852218|852753|852754|906392|928362|928363|928364|938019|938020|938021|938022|940419|940420|950019|950020|950021|950022|950023|950024|958165|958166|958167|958168|958169|958170|958171|958172|958173|958174|958175|958176|958177|958178|960889", + "upstreamId": "33382|33383|33384|33385|33386|33387|33391|33396|33398|33399|48713|48714|134209|134213|134215|134216|134217|139374|244115|244116|244117|256235|256236|256240|256245|256249|256250|266273|268552|268552|270101|272149|272153|329052|329060|329063|339094|339096|339109|339111|339112|339125|345085|345087|345092|346448|346453|346457|346460|360460|378427|410057|410058|410059|413452|429984|441969|445796|466961|466968|466972|467864|467866|467869|467870|467878|467880|467895|467898|467902|467914|468162|468358|468359|468361|468362|468369|491632|506455|531216|531220|531224|531225|531393|531397|531399|531452|531459|531705|531707|531716|569230|569232|569233|569237|569241|571248|571251|571256|571592|571593|571596|574507|574508|574509|574510|577648|620886|646144|646145|646146|646147|646148|646149|646150|646151|646152|646153|646154|646155|646156|646157|646158|646159|646160|646161|646162|646163|652667|652811|652839|652978|653467|688793|694100|694101|694102|694103|694104|694105|694106|715521|740839|740840|740841|740842|740844|744977|745019|755920|755922|755924|771609|771611|771612|771613|771614|771616|771617|771619|776355|776695|776706|785629|785633|791786|821103|821105|845580|845581|845582|845583|845584|845585|845586|845587|845588|845589|845590|845591|845592|845593|852218|852753|852754|906392|928362|928363|928364|938019|938020|938021|938022|940419|940420|950019|950020|950021|950022|950023|950024|958165|958166|958167|958168|958169|958170|958171|958172|958173|958174|958175|958176|958177|958178|960889", "text": "Myasthenic syndrome, congenital, 4a, slow-channel" }, { - "baseId": "33385|33396|33398|33399|33400|48688|244116|268552|346460|919737|919738|920374|961882", + "upstreamId": "33385|33396|33398|33399|33400|48688|244116|268552|346460|919737|919738|920374|961882", "text": "Myasthenic syndrome, congenital, 4b, fast-channel" }, { - "baseId": "33402|190766|265660|267375|270617|538964", + "upstreamId": "33402|190766|265660|267375|270617|538964", "text": "Myasthenic syndrome, congenital, 3a, slow-channel" }, { - "baseId": "33403|33404|33405|33406|33410|265660|267375|270617|538964", + "upstreamId": "33403|33404|33405|33406|33410|265660|267375|270617|538964", "text": "Congenital myasthenic syndrome 3B" }, { - "baseId": "33411|33412|134200|134202|134203|194325|196197|256398|256400|329773|329782|347173|347175|347178|445892|468825|468826|468830|468834|468837|469078|469079|495852|513646|531827|531831|531839|531843|531882|531883|531890|532150|568669|569715|569722|571586|571588|572244|572246|574611|574612|574613|574614|589390|646677|646678|646679|646680|646681|646682|646683|646684|646685|646686|646687|646688|646689|646690|652678|652867|653511|694193|694194|694195|694196|694199|694201|695775|704353|741011|741013|756111|760656|771810|778400|846174|846175|846176|846177|846178|846179|846180|852791|878369|878373|919768|919769|928525|928526|928527|938216|938217|941196|950271|950272|950273|950274|960243|960244", + "upstreamId": "33411|33412|134200|134202|134203|194325|196197|256398|256400|329773|329782|347173|347175|347178|445892|468825|468826|468830|468834|468837|469078|469079|495852|513646|531827|531831|531839|531843|531882|531883|531890|532150|568669|569715|569722|571586|571588|572244|572246|574611|574612|574613|574614|589390|646677|646678|646679|646680|646681|646682|646683|646684|646685|646686|646687|646688|646689|646690|652678|652867|653511|694193|694194|694195|694196|694199|694201|695775|704353|741011|741013|756111|760656|771810|778400|846174|846175|846176|846177|846178|846179|846180|852791|878369|878373|919768|919769|928525|928526|928527|938216|938217|941196|950271|950272|950273|950274|960243|960244", "text": "Myasthenic syndrome, congenital, 2a, slow-channel" }, { - "baseId": "33413|33414", + "upstreamId": "33413|33414", "text": "Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency" }, { - "baseId": "33415|33416|33417|33418|33419|33420|33426|918697", + "upstreamId": "33415|33416|33417|33418|33419|33420|33426|918697", "text": "Congenital myasthenic syndrome 1A" }, { - "baseId": "33421|33422|33423|33424|33425|38535|38536|139374", + "upstreamId": "33421|33422|33423|33424|33425|38535|38536|139374", "text": "Congenital myasthenic syndrome 1B, fast-channel" }, { - "baseId": "33429|578497", + "upstreamId": "33429|578497", "text": "Acute alcohol sensitivity" }, { - "baseId": "33429", + "upstreamId": "33429", "text": "Susceptibility to hangover" }, { - "baseId": "33429", + "upstreamId": "33429", "text": "Sublingual nitroglycerin, susceptibility to poor response to" }, { - "baseId": "33429", + "upstreamId": "33429", "text": "Esophageal cancer, alcohol-related, susceptibility to" }, { - "baseId": "33429|983526|983527|983528", + "upstreamId": "33429|983526|983527|983528", "text": "AMED SYNDROME, DIGENIC" }, { - "baseId": "33430|135070|141984|361200|441374", + "upstreamId": "33430|135070|141984|361200|441374", "text": "Ataxia, spastic, 4, autosomal recessive" }, { - "baseId": "33431|207300|428492", + "upstreamId": "33431|207300|428492", "text": "Mental retardation, anterior maxillary protrusion, and strabismus" }, { - "baseId": "33432|40320|40321|40322|40323|40324|192263|193452|193453|237063|237194|319992|319994|319995|319996|320000|320002|320003|320004|328552|328564|328565|335047|335052|336938|336949|336951|336956|336964|373873|409039|409041|463943|504817|527810|568228|572579|642054|642055|871457|871458|871459|871460|871461|871462|871463|871464|871465|871466|871467|871468|871469|871470|871471|871472|871473|871474|871475|926948|948417", + "upstreamId": "33432|40320|40321|40322|40323|40324|192263|193452|193453|237063|237194|319992|319994|319995|319996|320000|320002|320003|320004|328552|328564|328565|335047|335052|336938|336949|336951|336956|336964|373873|409039|409041|463943|504817|527810|568228|572579|642054|642055|871457|871458|871459|871460|871461|871462|871463|871464|871465|871466|871467|871468|871469|871470|871471|871472|871473|871474|871475|926948|948417", "text": "Congenital disorder of glycosylation type 1P" }, { - "baseId": "33434|33436", + "upstreamId": "33434|33436", "text": "DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE" }, { - "baseId": "33434", + "upstreamId": "33434", "text": "Plasmodium vivax, resistance to" }, { - "baseId": "33434", + "upstreamId": "33434", "text": "White blood cell count quantitative trait locus 1" }, { - "baseId": "33435", + "upstreamId": "33435", "text": "DUFFY BLOOD GROUP SYSTEM, FY(bwk) PHENOTYPE" }, { - "baseId": "33437|227335", + "upstreamId": "33437|227335", "text": "Migraine, with or without aura 13" }, { - "baseId": "33439|33440|135733|135734|135735|135736|135737|187972|264173|293244|293247|293252|293254|293258|293261|293262|293263|294579|294589|294591|294593|294598|294601|294604|298052|298058|298059|298072|298073|298088|298090|298091|298095|298097|298099|298138|298143|298180|298185|298187|298193|298195|298196|298205|298216|298233|298235|360859|513418|611612|620161|626143|683630|683631|683632|685160|685161|734612|764440|775069|787252|789115|798914|890603|890604|890605|890606|890607|890608|890609|890610|890611|890612|890613|890614|890615|890616|890617|890618|890619|890620|890621|890622|890623|890624|890625|891786|891787|891788|906151|971339|978085|978086|978087|978088|978089|978090|978091|978092|978093|978094|978095|978096|978097", + "upstreamId": "33439|33440|135733|135734|135735|135736|135737|187972|264173|293244|293247|293252|293254|293258|293261|293262|293263|294579|294589|294591|294593|294598|294601|294604|298052|298058|298059|298072|298073|298088|298090|298091|298095|298097|298099|298138|298143|298180|298185|298187|298193|298195|298196|298205|298216|298233|298235|360859|513418|611612|620161|626143|683630|683631|683632|685160|685161|734612|764440|775069|787252|789115|798914|890603|890604|890605|890606|890607|890608|890609|890610|890611|890612|890613|890614|890615|890616|890617|890618|890619|890620|890621|890622|890623|890624|890625|891786|891787|891788|906151|971339|978085|978086|978087|978088|978089|978090|978091|978092|978093|978094|978095|978096|978097", "text": "Pontocerebellar hypoplasia type 2D" }, { - "baseId": "33443|33444|33445|33446|33447|102019|190619|190620|194512|207120|293613|293618|293620|293625|293640|293641|293649|293650|293651|293652|293660|293661|293667|293677|295046|295047|295048|295053|295055|295057|295059|295060|295063|295070|295072|295074|295077|298689|298692|298694|298695|298712|298714|298721|298730|298734|298738|298741|298746|298750|298752|298753|298754|369137|562235|620168|623137|632437|632438|691594|792750|829402|890784|890785|890786|890787|890788|890789|890790|890791|890792|890793|890794|890795|890796|890797|890798|890799|890800|890801|890802|890803|890804|890805|890806|890807|890808|890809|890810|890811|891875|891876", + "upstreamId": "33443|33444|33445|33446|33447|102019|190619|190620|194512|207120|293613|293618|293620|293625|293640|293641|293649|293650|293651|293652|293660|293661|293667|293677|295046|295047|295048|295053|295055|295057|295059|295060|295063|295070|295072|295074|295077|298689|298692|298694|298695|298712|298714|298721|298730|298734|298738|298741|298746|298750|298752|298753|298754|369137|562235|620168|623137|632437|632438|691594|792750|829402|890784|890785|890786|890787|890788|890789|890790|890791|890792|890793|890794|890795|890796|890797|890798|890799|890800|890801|890802|890803|890804|890805|890806|890807|890808|890809|890810|890811|891875|891876", "text": "Congenital disorder of glycosylation type 1Q" }, { - "baseId": "33452|33453|33454", + "upstreamId": "33452|33453|33454", "text": "Vesicoureteral reflux 3" }, { - "baseId": "33455|190639|191956|195765|247047|269267|270345|311348|311357|311364|311365|311372|311373|311381|311388|311389|311393|311395|311397|311399|311400|311401|311406|311410|311411|311417|311419|311420|311421|311423|311424|311429|311431|311432|311433|316875|316876|316888|316901|316903|316920|316935|316936|316963|316964|316968|316972|316973|316974|322840|322852|322855|322862|322865|322869|322870|322873|322877|322908|322930|322944|322956|322969|322972|322973|322985|322990|322991|323005|323480|323481|323483|323484|323493|323494|323497|323508|323520|323521|323525|323526|323527|323531|323532|323541|323542|323543|323551|323558|578346|790988|790989|790990|790991|866402|866403|866404|866405|866406|866407|866408|866409|866410|866412|866413|866414|866415|866416|866417|866418|866419|866420|866421|866422|866423|866424|866425|866426|866427|866429|866430|866431|866432|866433|866434|866435|866436|866437|866438|866439|866440|866441|866442|868519|868520|868521|868522|919294|919295|919296|919297", + "upstreamId": "33455|190639|191956|195765|247047|269267|270345|311348|311357|311364|311365|311372|311373|311381|311388|311389|311393|311395|311397|311399|311400|311401|311406|311410|311411|311417|311419|311420|311421|311423|311424|311429|311431|311432|311433|316875|316876|316888|316901|316903|316920|316935|316936|316963|316964|316968|316972|316973|316974|322840|322852|322855|322862|322865|322869|322870|322873|322877|322908|322930|322944|322956|322969|322972|322973|322985|322990|322991|323005|323480|323481|323483|323484|323493|323494|323497|323508|323520|323521|323525|323526|323527|323531|323532|323541|323542|323543|323551|323558|578346|790988|790989|790990|790991|866402|866403|866404|866405|866406|866407|866408|866409|866410|866412|866413|866414|866415|866416|866417|866418|866419|866420|866421|866422|866423|866424|866425|866426|866427|866429|866430|866431|866432|866433|866434|866435|866436|866437|866438|866439|866440|866441|866442|868519|868520|868521|868522|919294|919295|919296|919297", "text": "Cone-rod dystrophy 15" }, { - "baseId": "33456|34511|34512|34513|34515|34516|34518|39740|101805|140421|169015|169015|169020|169021|169022|169023|169024|169027|169028|169031|169032|169032|169034|169038|169038|169039|169040|169041|169044|169045|191939|194480|208024|208026|208029|208030|208031|208033|208034|208036|208037|208038|208040|254844|319318|319320|319324|319331|319335|319339|319340|319344|327833|327837|327838|327860|327863|327872|327873|327877|327879|327880|327888|327890|327892|327893|334132|334133|334135|334148|334152|334165|334170|335735|335772|335797|335804|335810|335820|335829|335830|335833|335838|335845|335846|404812|426039|429484|437953|437953|490846|587191|870972|870973|870974|870975|870976|870977|870978|870979|870980|870981|870982|870983|870984|870985|870986|870987|870988|870989|870990|870991|870992|870993|870994|870995|870996|870997|870998|870999|872321|872322", + "upstreamId": "33456|34511|34512|34513|34515|34516|34518|39740|101805|140421|169015|169015|169020|169021|169022|169023|169024|169027|169028|169031|169032|169032|169034|169038|169038|169039|169040|169041|169044|169045|191939|194480|208024|208026|208029|208030|208031|208033|208034|208036|208037|208038|208040|254844|319318|319320|319324|319331|319335|319339|319340|319344|327833|327837|327838|327860|327863|327872|327873|327877|327879|327880|327888|327890|327892|327893|334132|334133|334135|334148|334152|334165|334170|335735|335772|335797|335804|335810|335820|335829|335830|335833|335838|335845|335846|404812|426039|429484|437953|437953|490846|587191|870972|870973|870974|870975|870976|870977|870978|870979|870980|870981|870982|870983|870984|870985|870986|870987|870988|870989|870990|870991|870992|870993|870994|870995|870996|870997|870998|870999|872321|872322", "text": "Seckel syndrome 4" }, { - "baseId": "33466|33467|165949|166311|166312|192059|207083|207085|207089|207089|213912|213913|213914|367721|406361|424647|426741|428216|431906|490210|511508|538978|550596|551770|552076|552077|611462|611463|614601|621730|677419|678956|678957|790416|790417|790418|790419|790420|798537|800393|861564|915025|918858|961600|963131|964226|964227|964228|964229|970778|972714|972928|972929|972930|972931|975857", + "upstreamId": "33466|33467|165949|166311|166312|192059|207083|207085|207089|207089|213912|213913|213914|367721|406361|424647|426741|428216|431906|490210|511508|538978|550596|551770|552076|552077|611462|611463|614601|621730|677419|678956|678957|790416|790417|790418|790419|790420|798537|800393|861564|915025|918858|961600|963131|964226|964227|964228|964229|970778|972714|972928|972929|972930|972931|975857", "text": "Mental retardation with language impairment and with or without autistic features" }, { - "baseId": "33477", + "upstreamId": "33477", "text": "Dystonia 1, torsion, late-onset" }, { - "baseId": "33478|33479|97340|97341|97342|97343|97344", + "upstreamId": "33478|33479|97340|97341|97342|97343|97344", "text": "Hypobetalipoproteinemia, familial, 2" }, { - "baseId": "33480|135041|135042|135043|135044|135046|135047|135051|135052|207924|207925|508868|508869|513318|702034|738355|738356|753025|768836|768838|768839|768841|768842|775955|784242|919401|966978|979211|979212|979213|979214|979215|979216|979217|979218|979219|979220|979221|979222|979223|979224|979225|979226|979227|979228|979229|979230", + "upstreamId": "33480|135041|135042|135043|135044|135046|135047|135051|135052|207924|207925|508868|508869|513318|702034|738355|738356|753025|768836|768838|768839|768841|768842|775955|784242|919401|966978|979211|979212|979213|979214|979215|979216|979217|979218|979219|979220|979221|979222|979223|979224|979225|979226|979227|979228|979229|979230", "text": "Microcephaly, postnatal progressive, with seizures and brain atrophy" }, { - "baseId": "33481|215094|215095|215096|552408|726177|962242", + "upstreamId": "33481|215094|215095|215096|552408|726177|962242", "text": "Hyperchlorhidrosis, isolated" }, { - "baseId": "33486|71504|71505|256779|332664|332667|332670|332672|332673|332674|332675|342847|342848|342850|348199|348201|348202|348203|348204|348207|348212|349404|349407|349408|349411|349412|349415|879976|879977|879978|879979|879980|879981|879982|879983|879984|879985", + "upstreamId": "33486|71504|71505|256779|332664|332667|332670|332672|332673|332674|332675|342847|342848|342850|348199|348201|348202|348203|348204|348207|348212|349404|349407|349408|349411|349412|349415|879976|879977|879978|879979|879980|879981|879982|879983|879984|879985", "text": "Congenital dyserythropoietic anemia, type IV" }, { - "baseId": "33497|33498|33499|33500|188054|208642|334842|334848|334850|334857|334867|334872|334873|334875|344718|344725|344728|344729|344733|344736|344742|344744|344746|344751|349705|349706|349710|349713|349714|350693|350695|350696|350697|350698|350702|350705|350706|350709|350710|350712|577833|620654|620917|742277|860632|885843|885844|885845|885846|885847|885848|885849|885850|885851|885852|885853|885854|885855|885856|885857|885858|885859|885860|885861|885862|885863|885864|885865|885866|885867", + "upstreamId": "33497|33498|33499|33500|188054|208642|334842|334848|334850|334857|334867|334872|334873|334875|344718|344725|344728|344729|344733|344736|344742|344744|344746|344751|349705|349706|349710|349713|349714|350693|350695|350696|350697|350698|350702|350705|350706|350709|350710|350712|577833|620654|620917|742277|860632|885843|885844|885845|885846|885847|885848|885849|885850|885851|885852|885853|885854|885855|885856|885857|885858|885859|885860|885861|885862|885863|885864|885865|885866|885867", "text": "Spinocerebellar ataxia type 23" }, { - "baseId": "33502", + "upstreamId": "33502", "text": "Retinal arteries, tortuosity of" }, { - "baseId": "33861|434712", + "upstreamId": "33861|434712", "text": "Chromosome 15q13.3 microdeletion syndrome" }, { - "baseId": "33887|249603|249620|249659|278345|278362|278378|278397|278399|278401|278422|278461|278471|279471|279503|279514|279524|279597|279598|279605|279612|279613|279676|279688|329365|339623|345381|346754|346763|353071", + "upstreamId": "33887|249603|249620|249659|278345|278362|278378|278397|278399|278401|278422|278461|278471|279471|279503|279514|279524|279597|279598|279605|279612|279613|279676|279688|329365|339623|345381|346754|346763|353071", "text": "Hypokalemic periodic paralysis" }, { - "baseId": "33966|33974|34018|44267|44269|44270|44271|44272|44274|44275|44276|44278|44280|44283|44284|44286|44287|44288|44883|45062|45063|45064|45068|45075|45093|45094|45095|45096", + "upstreamId": "33966|33974|34018|44267|44269|44270|44271|44272|44274|44275|44276|44278|44280|44283|44284|44286|44287|44288|44883|45062|45063|45064|45068|45075|45093|45094|45095|45096", "text": "Neonatal diabetes mellitus" }, { - "baseId": "33980|134759|192205|192207|317386|317391|317395|317415|317418|317429|317433|317451|317452|317456|317463|317465|317466|317470|325232|325233|325235|325236|325255|325260|325261|325262|325265|325274|325286|325287|325288|325296|331461|331464|331468|331495|331540|331564|331579|331600|332877|332891|332921|332923|332925|332937|332947|332950|332959|332969|332986|332996|333033", + "upstreamId": "33980|134759|192205|192207|317386|317391|317395|317415|317418|317429|317433|317451|317452|317456|317463|317465|317466|317470|325232|325233|325235|325236|325255|325260|325261|325262|325265|325274|325286|325287|325288|325296|331461|331464|331468|331495|331540|331564|331579|331600|332877|332891|332921|332923|332925|332937|332947|332950|332959|332969|332986|332996|333033", "text": "Myokymia" }, { - "baseId": "33982|201345|282265|282273|282291|282884|282949|282984|282985|282987|282994|284486|284491|284501|284503|284781|284892|284930|284935|297404|297412|299450|299456|303577|303616|303901|303925|317387|317391|317398|317401|317404|317407|317412|317416|317428|317429|317435|317458|317466|325231|325233|325235|325238|325240|325261|325262|325267|325271|325273|325274|325279|325285|325286|325294|325295|325316|325326|331460|331463|331464|331474|331475|331487|331488|331489|331500|331501|331511|331539|331542|331561|331563|331565|331582|331598|332852|332867|332887|332895|332906|332918|332919|332922|332931|332937|332944|332955|332977|332979|332998|333005|333012|333013|333026|333027|353540|551424|801216|970990", + "upstreamId": "33982|201345|282265|282273|282291|282884|282949|282984|282985|282987|282994|284486|284491|284501|284503|284781|284892|284930|284935|297404|297412|299450|299456|303577|303616|303901|303925|317387|317391|317398|317401|317404|317407|317412|317416|317428|317429|317435|317458|317466|325231|325233|325235|325238|325240|325261|325262|325267|325271|325273|325274|325279|325285|325286|325294|325295|325316|325326|331460|331463|331464|331474|331475|331487|331488|331489|331500|331501|331511|331539|331542|331561|331563|331565|331582|331598|332852|332867|332887|332895|332906|332918|332919|332922|332931|332937|332944|332955|332977|332979|332998|333005|333012|333013|333026|333027|353540|551424|801216|970990", "text": "Episodic ataxia" }, { - "baseId": "33999|34000|94483|94485", + "upstreamId": "33999|34000|94483|94485", "text": "CEREBRAL AMYLOID ANGIOPATHY, PRNP-RELATED" }, { - "baseId": "34038", + "upstreamId": "34038", "text": "Metachromatic leukodystrophy, late-onset" }, { - "baseId": "34118|34120|361083", + "upstreamId": "34118|34120|361083", "text": "CK syndrome" }, { - "baseId": "34125|360935", + "upstreamId": "34125|360935", "text": "Elevated 7-dehydrocholesterol" }, { - "baseId": "34125|217210|217211|217212|217213|264781|360935|495314|514043|514138", + "upstreamId": "34125|217210|217211|217212|217213|264781|360935|495314|514043|514138", "text": "Congenital microcephaly" }, { - "baseId": "34125|360935", + "upstreamId": "34125|360935", "text": "2-3 toe syndactyly" }, { - "baseId": "34125|166581|166586|166598|166599|166601|166604|166605|166609|166613|166620|166623|166626|166633|166642|166666|166667|166672|166674|166675|166686|166700|166702|166712|166715|166727|166739|166742|166746|166752|166755|166769|166773|166778|166783|166789|166793|166797|166802|166811|166815|166826|166840|166850|166851|166852|166856|166864|166868|166884|166886|166889|166913|166915|166926|166932|166939|166947|166966|166974|166977|166984|166985|166998|167001|167004|167005|167007|167013|167019|167027|167040|167044|167053|167054|167069|167070|167081|167083|167088|167101|167106|167111|167112|167119|167123|167135|167137|167151|167163|167170|167172|167173|167177|167179|167180|167188|167202|167204|167212|167220|167223|167247|167260|167264|167267|167273|167278|167283|167290|167293|167296|167307|167323|167329|167336|223422|263355|263368|360935", + "upstreamId": 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"baseId": "34211|244100|244101", + "upstreamId": "34211|244100|244101", "text": "Patent ductus arteriosus 2" }, { - "baseId": "34220|186058|212530|221642|221645|239956|252546|271323|301262|304461|304463|309043|309071|395264|395624|456499|561169|635337|683828|683829|683831|683833|683835|683837|685200|685202|685205|686929|686931|689846|692081|765927|978371|978372|978373|978374|978375|978376|978377", + "upstreamId": "34220|186058|212530|221642|221645|239956|252546|271323|301262|304461|304463|309043|309071|395264|395624|456499|561169|635337|683828|683829|683831|683833|683835|683837|685200|685202|685205|686929|686931|689846|692081|765927|978371|978372|978373|978374|978375|978376|978377", "text": "Hereditary hemochromatosis type 3" }, { - "baseId": "34221", + "upstreamId": "34221", "text": "Hereditary hemochromatosis type 4" }, { - "baseId": 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+ "upstreamId": "34261|34262|34263|34264|34269|34637|81680|134792|134793|134794|134795|134796|141743|141749|141751|141752|141753|141754|141755|191041|191676|202143|202144|202145|202146|202149|202150|202151|202153|202154|202155|202156|202157|202158|202160|202162|202163|202170|202171|202172|202173|202174|202175|202179|202181|202181|202182|202187|202189|202190|202192|207503|207504|240232|264363|272269|304135|304150|304163|304164|304181|304186|304187|304189|304193|304194|304197|304205|304211|304217|304222|304229|304230|304232|304242|304244|304245|304249|304251|304263|304269|304271|304274|307750|307761|307788|307793|307795|307801|307810|307824|307839|307852|307853|307860|307862|307867|307871|307873|307883|307889|307890|307898|307900|307908|312806|312809|312819|312820|312827|312850|312870|312880|312889|312891|312901|312906|312908|312909|312911|312914|312916|312919|312921|312929|312935|312940|312942|312945|312947|312949|312953|312956|312957|312974|312975|312978|312980|312983|312984|312998|312999|313005|313008|313010|313013|313017|313018|313026|313028|313038|313042|359883|369338|369344|369703|370079|371511|371534|395898|395900|395912|396148|396288|396563|396571|396572|407314|421657|426672|444211|457184|457187|457193|457202|457204|457796|457798|457816|457819|457820|458184|458186|458196|489649|502590|522991|522997|522998|523000|523257|523268|523270|523476|523477|523492|523494|523620|523623|523625|523626|523627|561944|561947|561949|561951|561955|562352|562362|562365|562367|564632|564635|564636|564638|564639|564641|567365|567370|636584|636585|636586|636587|636588|636589|636590|636591|636592|636593|636594|636595|636596|636597|636598|636599|636600|636601|636602|636603|655830|687185|687187|689903|692350|695377|700394|722848|736429|750907|766531|819945|819946|834114|834115|834116|834117|834118|834119|834120|834121|834122|834123|834124|834125|834126|834127|834128|834129|834130|834131|834132|834133|834134|834135|834136|834137|834138|834139|834140|834141|851179|852112|925012|925013|925014|925015|925016|925017|925018|925019|934089|934090|934091|934092|934093|934094|934095|934096|934097|945850|945851|945852|945853|945854|945855|955288|955289|955290", "text": "Benign familial neonatal seizures" }, { - "baseId": "34261|34263|34264|141754|202158|240232|304149|304178|304180|304182|304188|304193|304197|304200|304206|304218|304226|304232|304235|304243|304249|304251|304260|304261|304264|304265|304269|304271|304274|307801|307837|307838|307854|307860|307861|307863|307864|307873|307884|307886|307887|307889|307890|307891|307900|307908|307919|312763|312782|312807|312817|312821|312837|312838|312856|312890|312894|312895|312901|312910|312915|312916|312918|312920|312923|312925|312928|312939|312944|312946|312948|312952|312953|312956|312958|312960|312979|312981|312983|312990|312999|313005|313007|313008|313009|313010|313012|313013|313017|313018|313027|313038|313040|313042", + "upstreamId": "34261|34263|34264|141754|202158|240232|304149|304178|304180|304182|304188|304193|304197|304200|304206|304218|304226|304232|304235|304243|304249|304251|304260|304261|304264|304265|304269|304271|304274|307801|307837|307838|307854|307860|307861|307863|307864|307873|307884|307886|307887|307889|307890|307891|307900|307908|307919|312763|312782|312807|312817|312821|312837|312838|312856|312890|312894|312895|312901|312910|312915|312916|312918|312920|312923|312925|312928|312939|312944|312946|312948|312952|312953|312956|312958|312960|312979|312981|312983|312990|312999|313005|313007|313008|313009|313010|313012|313013|313017|313018|313027|313038|313040|313042", "text": "Benign Neonatal Epilepsy" }, { - "baseId": "34304|215086|404820|677447|919551|920339|971005", + "upstreamId": "34304|215086|404820|677447|919551|920339|971005", "text": "Cutis laxa, autosomal dominant 2" }, { - "baseId": "34351|331050|331071|374645|444943|970955", + "upstreamId": "34351|331050|331071|374645|444943|970955", "text": "Wrinkly skin syndrome" }, { - "baseId": "34359|34359|251291|291692|293023|293025|296355|559682|691486|695217|709053|720645|828574|859301|923359", + "upstreamId": "34359|34359|251291|291692|293023|293025|296355|559682|691486|695217|709053|720645|828574|859301|923359", "text": "Amyotrophic lateral sclerosis 17" }, { - "baseId": "34374|513942", + "upstreamId": "34374|513942", "text": "CNS demyelination" }, { - "baseId": "34374|48413|181438|187273|187274|187330|202625|263198|263255|263351|263363|322495|354286|354287|354295|360849|361119|361148|362226|407647|481485|512868|513983|514002|514076|514090|514111|514142|514192|514193|514215|535696|550740|550741|550742|550743|550744|550745|550746|553299|590061|608934|614512|682850|858734|904214|904239|904355|905854", + "upstreamId": "34374|48413|181438|187273|187274|187330|202625|263198|263255|263351|263363|322495|354286|354287|354295|360849|361119|361148|362226|407647|481485|512868|513983|514002|514076|514090|514111|514142|514192|514193|514215|535696|550740|550741|550742|550743|550744|550745|550746|553299|590061|608934|614512|682850|858734|904214|904239|904355|905854", "text": "Macrocephalus" }, { - "baseId": "34498|34503|34509|101791|101792|134035|134037|134038|134039|134040|134042|134044|134045|134047|134049|134052|134056|140408|140409|140410|140411|167689|168709|168710|168712|168718|168743|168749|169016|169039|190891|207601|208178|278308|278324|279339|279421|279500|280768|281229|281264|306597|306631|310814|310815|310825|314971|315139|316264|316544|316574|319325|319332|322446|327852|327862|333242|333266|334164|334169|335745|335746|335794|335803|335834|338745|340383|340388|340391|340750|340754|343342", + "upstreamId": "34498|34503|34509|101791|101792|134035|134037|134038|134039|134040|134042|134044|134045|134047|134049|134052|134056|140408|140409|140410|140411|167689|168709|168710|168712|168718|168743|168749|169016|169039|190891|207601|208178|278308|278324|279339|279421|279500|280768|281229|281264|306597|306631|310814|310815|310825|314971|315139|316264|316544|316574|319325|319332|322446|327852|327862|333242|333266|334164|334169|335745|335746|335794|335803|335834|338745|340383|340388|340391|340750|340754|343342", "text": "Primary Microcephaly, Recessive" }, { - "baseId": "34639|125784|203772|511019|535384|961353|973046", + "upstreamId": "34639|125784|203772|511019|535384|961353|973046", "text": "KCNQ2-Related Disorders" }, { - "baseId": "34722|39421|39422|39423|39424|49397|427631|427632|514860|576286|613845|679963|682674|777022|850717|850909|855118|855119|855120", + "upstreamId": "34722|39421|39422|39423|39424|49397|427631|427632|514860|576286|613845|679963|682674|777022|850717|850909|855118|855119|855120", "text": "Radial aplasia-thrombocytopenia syndrome" }, { - "baseId": "35747|432287|514115|514117", + "upstreamId": "35747|432287|514115|514117", "text": "Microscopic hematuria" }, { - "baseId": "35747|223747|384401|513894|513895|513923|513924|514113|514114|514118", + "upstreamId": "35747|223747|384401|513894|513895|513923|513924|514113|514114|514118", "text": "Hematuria" }, { - "baseId": "35796|514115", + "upstreamId": "35796|514115", "text": "Mild proteinuria" }, { - "baseId": "35796|384401", + "upstreamId": "35796|384401", "text": "Glomerulopathy" }, { - "baseId": "36140|36173|39105|39106|39106|39106|39107|50227|94253|133407|136441|136493|139786|142921|142922|142923|151879|151967|181036|181036|185427|185427|185428|185438|185443|236534|243064|243077|331636|331637|331639|331641|331643|331644|331645|331648|331650|331653|331656|331658|331659|331662|331664|331668|331672|331679|331683|331684|331686|331694|331695|331698|331701|331704|331707|331711|341892|341894|341895|341897|341898|341903|341904|341907|341916|341919|341922|341923|341928|341929|341932|341934|341935|341937|341940|341942|341944|341945|341948|341949|341956|341957|341959|341961|347245|347248|347262|347263|347266|347267|347270|347274|347278|347279|347281|347284|347285|347288|347289|347290|347292|347293|347295|347297|347313|347315|347320|347323|347325|347332|347333|347335|347337|347339|347340|347347|348571|348573|348574|348576|348581|348598|348600|348602|348608|348609|348610|348611|348613|348621|348622|348626|348628|348632|348633|348642|348644|348645|348647|348649|348652|348653|348656|348660|348669|348670|348680|353480|353481|377048|377096|379055|403342|410379|432469|468069|468948|468989|479334|479365|485542|539082|879352|879353|879354|879355|879356|879357|879358|879359|879360|879361|879362|879363|879364|879365|879366|879367|879368|879369|879370|879371|879372|879373|879374|879375|879376|879377|879378|879379|879380|879381|879382|879383|879384|879385|879386|879387|879388|879389|879390|879391|879392|879393|879394|879395|879396|879397|879398|879399|879400|879401|879402|879403|879404|879405|879406|879407|879408|879409|879410|879411|879412|879413|879414|879415|880666", + "upstreamId": "36140|36173|39105|39106|39106|39106|39107|50227|94253|133407|136441|136493|139786|142921|142922|142923|151879|151967|181036|181036|185427|185427|185428|185438|185443|236534|243064|243077|331636|331637|331639|331641|331643|331644|331645|331648|331650|331653|331656|331658|331659|331662|331664|331668|331672|331679|331683|331684|331686|331694|331695|331698|331701|331704|331707|331711|341892|341894|341895|341897|341898|341903|341904|341907|341916|341919|341922|341923|341928|341929|341932|341934|341935|341937|341940|341942|341944|341945|341948|341949|341956|341957|341959|341961|347245|347248|347262|347263|347266|347267|347270|347274|347278|347279|347281|347284|347285|347288|347289|347290|347292|347293|347295|347297|347313|347315|347320|347323|347325|347332|347333|347335|347337|347339|347340|347347|348571|348573|348574|348576|348581|348598|348600|348602|348608|348609|348610|348611|348613|348621|348622|348626|348628|348632|348633|348642|348644|348645|348647|348649|348652|348653|348656|348660|348669|348670|348680|353480|353481|377048|377096|379055|403342|410379|432469|468069|468948|468989|479334|479365|485542|539082|879352|879353|879354|879355|879356|879357|879358|879359|879360|879361|879362|879363|879364|879365|879366|879367|879368|879369|879370|879371|879372|879373|879374|879375|879376|879377|879378|879379|879380|879381|879382|879383|879384|879385|879386|879387|879388|879389|879390|879391|879392|879393|879394|879395|879396|879397|879398|879399|879400|879401|879402|879403|879404|879405|879406|879407|879408|879409|879410|879411|879412|879413|879414|879415|880666", "text": "Myhre syndrome" }, { - "baseId": "36230|139835|186118|231108|297514|303754|304144|304196|310292|310301|310308|310324|310337|315398|315399|315400|315401|315409|321368|321414|322063|322067|322068|322098|322121|322125|322128|322139|322140|322141|322151|322153|336093|336129|345839|350281|350282|350287|351309|351310|353127|353128|353702", + "upstreamId": "36230|139835|186118|231108|297514|303754|304144|304196|310292|310301|310308|310324|310337|315398|315399|315400|315401|315409|321368|321414|322063|322067|322068|322098|322121|322125|322128|322139|322140|322141|322151|322153|336093|336129|345839|350281|350282|350287|351309|351310|353127|353128|353702", "text": "Hirschsprung Disease, Dominant" }, { - "baseId": "36269", + "upstreamId": "36269", "text": "Elevated basal serum calcitonin" }, { - "baseId": "36278|212794|983518", + "upstreamId": "36278|212794|983518", "text": "Appendicitis" }, { - "baseId": "36301|802092", + "upstreamId": "36301|802092", "text": "Renal hypoplasia/aplasia" }, { - "baseId": "36445", + "upstreamId": "36445", "text": "Classical galactosemia, homozygous Duarte-type" }, { - "baseId": "36672", + "upstreamId": "36672", "text": "Inflammatory bowel disease 5" }, { - "baseId": "37785", + "upstreamId": "37785", "text": "fluorouracil and oxaliplatin response - Efficacy" }, { - "baseId": "37785", + "upstreamId": "37785", "text": "cyclophosphamide and epirubicin response - Efficacy, Toxicity/ADR" }, { - "baseId": "37785|227807|227832", + "upstreamId": "37785|227807|227832", "text": "Platinum compounds response - Toxicity/ADR" }, { - "baseId": "37785|187973|227807|538599", + "upstreamId": "37785|187973|227807|538599", "text": "cisplatin response - Toxicity/ADR" }, { - "baseId": "38302|227781|227783|227800", + "upstreamId": "38302|227781|227783|227800", "text": "acenocoumarol response - Dosage" }, { - "baseId": "38302|227781|227783|227800", + "upstreamId": "38302|227781|227783|227800", "text": "phenprocoumon response - Dosage" }, { - "baseId": "38302|287330|287354|287389|287403|287410|288101|288131|290764|290782|290805|290806|290826|290827|290869|291016|291037|291053|291059|291075|291077|325114|334774|353339", + "upstreamId": "38302|287330|287354|287389|287403|287410|288101|288131|290764|290782|290805|290806|290826|290827|290869|291016|291037|291053|291059|291075|291077|325114|334774|353339", "text": "Vitamin K-Dependent Clotting Factors" }, { - "baseId": "38414|166084|253402|800868|800869|800870|800871|800872|800873|800874|800875|800876|800877|800878|800879|800880|800881|800882|800883|800884|800885|800886|800887|800888|800889|800890|800891|800892|800893|800894|800895|800896|800897|800898", + "upstreamId": "38414|166084|253402|800868|800869|800870|800871|800872|800873|800874|800875|800876|800877|800878|800879|800880|800881|800882|800883|800884|800885|800886|800887|800888|800889|800890|800891|800892|800893|800894|800895|800896|800897|800898", "text": "Three Vessel Coronary Disease" }, { - "baseId": "38432|40114|40115|165819|360806|513906|513959|514053|568036|681597|971422", + "upstreamId": "38432|40114|40115|165819|360806|513906|513959|514053|568036|681597|971422", "text": "Tremor" }, { - "baseId": "38432|486013", + "upstreamId": "38432|486013", "text": "Cogwheel rigidity" }, { - "baseId": "38459|136747|136896|169549|169560|171242|198030|215566|215567|215568|215569|226117|247164|247165", + "upstreamId": "38459|136747|136896|169549|169560|171242|198030|215566|215567|215568|215569|226117|247164|247165", "text": "Malignant hypothermia" }, { - "baseId": "38538|187198|187198|187200|187201|187202|211934|211940|215011|215012|243998|411026|513671|553402|553403|578585|583133|792080|792081|805122|966178|966179|966181|971165", + "upstreamId": "38538|187198|187198|187200|187201|187202|211934|211940|215011|215012|243998|411026|513671|553402|553403|578585|583133|792080|792081|805122|966178|966179|966181|971165", "text": "Infantile cerebellar-retinal degeneration" }, { - "baseId": "38539|38540|38541|38542|38543|38544|53316|53317|133715|133720|176739|176746|178232|178233|178277|178309|208421|231325|231329|231330|269772|272126|361230|376793|376801|378844|378858|378864|378867|430028|430029|433340|445921|467703|490935|492667|497861|497892|506476|506802|507230|532015|532090|532383|553005|646969|677308|694220|694221|694223|695783|704457|704458|704462|798725|855114", + "upstreamId": "38539|38540|38541|38542|38543|38544|53316|53317|133715|133720|176739|176746|178232|178233|178277|178309|208421|231325|231329|231330|269772|272126|361230|376793|376801|378844|378858|378864|378867|430028|430029|433340|445921|467703|490935|492667|497861|497892|506476|506802|507230|532015|532090|532383|553005|646969|677308|694220|694221|694223|695783|704457|704458|704462|798725|855114", "text": "Baraitser-Winter Syndrome 2" }, { - "baseId": "38552|38552|139981|258664|258672|259943|311573|311576|311579|311581|311582|311586|311592|311593|317166|317167|317169|317170|323194|323197|323198|323201|323202|323203|323776|353158|373592|866511|866512|866513|866514|866515|866516|868528|900535|974940|974941", + "upstreamId": "38552|38552|139981|258664|258672|259943|311573|311576|311579|311581|311582|311586|311592|311593|317166|317167|317169|317170|323194|323197|323198|323201|323202|323203|323776|353158|373592|866511|866512|866513|866514|866515|866516|868528|900535|974940|974941", "text": "Multisystemic smooth muscle dysfunction syndrome" }, { - "baseId": "38552", + "upstreamId": "38552", "text": "alterations of great arteries and veins" }, { - "baseId": "38557|38558|38559|311041|311043|311044|311047|311051|311052|311056|311057|316378|316389|316390|322470|323094|323096|323097|323104|323107|323110|323116|724065|788842|790980|790981|866275|866276|866277|866278|866279|866280|866281|866282|866283|868502|903573", + "upstreamId": "38557|38558|38559|311041|311043|311044|311047|311051|311052|311056|311057|316378|316389|316390|322470|323094|323096|323097|323104|323107|323110|323116|724065|788842|790980|790981|866275|866276|866277|866278|866279|866280|866281|866282|866283|868502|903573", "text": "Hypermethioninemia due to adenosine kinase deficiency" }, { - "baseId": "38566|38567", + "upstreamId": "38566|38567", "text": "Hyperbiliverdinemia" }, { - "baseId": "38576|777951", + "upstreamId": "38576|777951", "text": "Acatalasia" }, { - "baseId": "38580|677115|677117|677119|789169|789170|789398|963093", + "upstreamId": "38580|677115|677117|677119|789169|789170|789398|963093", "text": "Prune belly syndrome" }, { - "baseId": "38581|38582|38583|38584|38585|205279|237364|260036|318925|318927|318930|318932|318936|318937|318943|318944|318952|318960|318961|318976|318979|318982|318986|318988|318999|319001|319002|319003|319004|319015|319018|319023|319025|319026|319027|319029|319030|319035|319037|319038|327337|327338|327339|327341|327342|327343|327348|327368|327370|327371|327372|327383|327386|327387|327393|327394|327395|327397|327401|327402|327404|327405|327419|327423|327437|327439|327447|327453|327458|327459|327460|327471|327472|327475|333543|333546|333555|333562|333565|333568|333569|333572|333573|333580|333585|333592|333594|333595|333604|333615|333616|333619|333629|333633|333634|333639|333642|333651|333658|333659|333660|333666|333672|333673|333675|333677|333692|335248|335254|335259|335265|335266|335269|335270|335277|335284|335286|335295|335296|335301|335312|335315|335317|335343|335345|335346|335349|335350|335356|335362|335366|372618|375515|408801|552167|620855|620856|622419|677182|730897|738945|753711|753712|769406|784530|798667|816477|855117|870717|870718|870719|870720|870721|870722|870723|870724|870725|870726|870727|870728|870729|870730|870731|870732|870733|870734|870735|870736|870737|870738|870739|870740|870741|870742|870743|870744|870745|870746|870747|870748|870749|870750|870751|870752|870753|870754|870755|870756|872306|872307|872308|872309|872310|872311|872312|872313|872314|872315|872316|919484|919485|919486|919487|919488|961654|965226|970978", + "upstreamId": "38581|38582|38583|38584|38585|205279|237364|260036|318925|318927|318930|318932|318936|318937|318943|318944|318952|318960|318961|318976|318979|318982|318986|318988|318999|319001|319002|319003|319004|319015|319018|319023|319025|319026|319027|319029|319030|319035|319037|319038|327337|327338|327339|327341|327342|327343|327348|327368|327370|327371|327372|327383|327386|327387|327393|327394|327395|327397|327401|327402|327404|327405|327419|327423|327437|327439|327447|327453|327458|327459|327460|327471|327472|327475|333543|333546|333555|333562|333565|333568|333569|333572|333573|333580|333585|333592|333594|333595|333604|333615|333616|333619|333629|333633|333634|333639|333642|333651|333658|333659|333660|333666|333672|333673|333675|333677|333692|335248|335254|335259|335265|335266|335269|335270|335277|335284|335286|335295|335296|335301|335312|335315|335317|335343|335345|335346|335349|335350|335356|335362|335366|372618|375515|408801|552167|620855|620856|622419|677182|730897|738945|753711|753712|769406|784530|798667|816477|855117|870717|870718|870719|870720|870721|870722|870723|870724|870725|870726|870727|870728|870729|870730|870731|870732|870733|870734|870735|870736|870737|870738|870739|870740|870741|870742|870743|870744|870745|870746|870747|870748|870749|870750|870751|870752|870753|870754|870755|870756|872306|872307|872308|872309|872310|872311|872312|872313|872314|872315|872316|919484|919485|919486|919487|919488|961654|965226|970978", "text": "Porencephaly 2" }, { - "baseId": "38583|38584|38585|48462|48463", + "upstreamId": "38583|38584|38585|48462|48463", "text": "Hemorrhage, intracerebral, susceptibility to" }, { - "baseId": "38590|360853", + "upstreamId": "38590|360853", "text": "Nail dystrophy" }, { - "baseId": "38590|360853|514024", + "upstreamId": "38590|360853|514024", "text": "Abnormality of the skin" }, { - "baseId": "38590|360853", + "upstreamId": "38590|360853", "text": "Skin erosion" }, { - "baseId": "38590|86021|86023|195809|209348|227262|227263|227264|251193|251196|251197|251198|251199|251201|251202|251203|264167|290937|290938|290956|290958|290964|290965|290966|290972|290973|290978|290979|290986|290987|290988|290989|290995|290996|291002|291003|291004|291010|291013|291021|291022|291878|291880|291892|291893|291894|291900|291901|291913|291929|291933|291942|291947|291948|291950|291953|291954|291955|291963|291964|291976|291979|291980|291982|291983|295187|295198|295199|295200|295203|295205|295206|295207|295222|295224|295234|295235|295236|295237|295238|295241|295252|295266|295284|295285|295286|295287|295295|295299|295301|295302|295310|295311|295315|295323|295330|295332|295334|295335|295336|295345|295464|295465|295466|295467|295478|295479|295482|295483|295496|295497|295498|295505|295510|295521|295525|295544|295547|295548|295559|295564|295565|295566|359454|359480|359543|359583|425565|443477|494081|513263|578420|620128|620129|620130|620131|620132|620133|677418|698155|708910|708913|708916|720512|720513|720514|720515|720516|720518|720519|734130|734131|734132|734139|734140|734141|744020|748332|748333|748334|748336|748338|748340|748342|748343|748344|748346|748349|748351|759205|759207|759433|759442|763956|763959|763961|763967|763969|763977|763979|763985|763996|774826|774828|774835|774838|774840|774843|774881|774889|781703|781718|781724|787197|889253|889254|889255|889256|889257|889258|889259|889260|889261|889262|889263|889264|889265|889266|889267|889268|889269|889270|889271|889272|889273|889274|889275|889276|889277|889278|889279|889280|889281|889282|889283|889284|889285|889286|889287|889288|889289|889290|889291|889292|889293|889294|889295|889296|889297|889298|889299|889300|889301|889302|889303|889304|889305|889306|889307|889308|889309|889310|889311|889312|889313|889314|889315|889316|889317|889318|889319|889320|889321|889322|889323|889324|889325|889326|889327|891674|891675|891676|891677|891678|891679|891680|891681|891682|891683|917439|961266", + "upstreamId": "38590|86021|86023|195809|209348|227262|227263|227264|251193|251196|251197|251198|251199|251201|251202|251203|264167|290937|290938|290956|290958|290964|290965|290966|290972|290973|290978|290979|290986|290987|290988|290989|290995|290996|291002|291003|291004|291010|291013|291021|291022|291878|291880|291892|291893|291894|291900|291901|291913|291929|291933|291942|291947|291948|291950|291953|291954|291955|291963|291964|291976|291979|291980|291982|291983|295187|295198|295199|295200|295203|295205|295206|295207|295222|295224|295234|295235|295236|295237|295238|295241|295252|295266|295284|295285|295286|295287|295295|295299|295301|295302|295310|295311|295315|295323|295330|295332|295334|295335|295336|295345|295464|295465|295466|295467|295478|295479|295482|295483|295496|295497|295498|295505|295510|295521|295525|295544|295547|295548|295559|295564|295565|295566|359454|359480|359543|359583|425565|443477|494081|513263|578420|620128|620129|620130|620131|620132|620133|677418|698155|708910|708913|708916|720512|720513|720514|720515|720516|720518|720519|734130|734131|734132|734139|734140|734141|744020|748332|748333|748334|748336|748338|748340|748342|748343|748344|748346|748349|748351|759205|759207|759433|759442|763956|763959|763961|763967|763969|763977|763979|763985|763996|774826|774828|774835|774838|774840|774843|774881|774889|781703|781718|781724|787197|889253|889254|889255|889256|889257|889258|889259|889260|889261|889262|889263|889264|889265|889266|889267|889268|889269|889270|889271|889272|889273|889274|889275|889276|889277|889278|889279|889280|889281|889282|889283|889284|889285|889286|889287|889288|889289|889290|889291|889292|889293|889294|889295|889296|889297|889298|889299|889300|889301|889302|889303|889304|889305|889306|889307|889308|889309|889310|889311|889312|889313|889314|889315|889316|889317|889318|889319|889320|889321|889322|889323|889324|889325|889326|889327|891674|891675|891676|891677|891678|891679|891680|891681|891682|891683|917439|961266", "text": "Dystrophic epidermolysis bullosa" }, { - "baseId": "38590|187110|496362", + "upstreamId": "38590|187110|496362", "text": "Epidermolysis bullosa dystrophica, AD, Epidermolysis bullosa dystrophica, AR" }, { - "baseId": "38592|106940|106974|106975|610623|610624|610625|907566|918715|918716|918717", + "upstreamId": "38592|106940|106974|106975|610623|610624|610625|907566|918715|918716|918717", "text": "Polymicrogyria with or without vascular-type ehlers-danlos syndrome" }, { - "baseId": "38600|267754|282483|282494|404746|538337|619998|677276", + "upstreamId": "38600|267754|282483|282494|404746|538337|619998|677276", "text": "Stickler syndrome, type 5" }, { - "baseId": "38605|38606|55719|55720|55721|55722|55723|55724|55725|55726|55727|55729|55730|55731|55732|55733|55734|55735|174359|174360|174361|174362|174365|174366|174367|174368|174370|174371|174374|174376|174497|174500|174501|174502|174506|174506|191960|193796|194635|195091|195498|195517|195770|227296|229440|229442|229444|229445|229447|229448|229452|229455|229461|229462|229466|229470|229475|229479|252330|266947|270329|270741|299883|299889|299892|299895|299897|299899|299901|299904|299906|302506|302507|302508|302511|302512|302513|302522|302532|302534|302535|302536|302537|306913|306914|306916|306917|306918|306919|306922|306923|306924|306925|306926|306934|306935|307189|307191|307199|307201|307202|307207|307208|307211|307213|307214|368659|406861|496460|496461|501733|501959|537810|552434|655743|795841|798574|895822|895823|895824|895825|895826|895827|895828|895829|895830|895831|895832|895833|895834|895835|895836|895837|895838|895839|895840|895841|895842|895843|895844|895845|895846|895847|896225|896226|896227|896228|896229|896230|896231", + "upstreamId": "38605|38606|55719|55720|55721|55722|55723|55724|55725|55726|55727|55729|55730|55731|55732|55733|55734|55735|174359|174360|174361|174362|174365|174366|174367|174368|174370|174371|174374|174376|174497|174500|174501|174502|174506|174506|191960|193796|194635|195091|195498|195517|195770|227296|229440|229442|229444|229445|229447|229448|229452|229455|229461|229462|229466|229470|229475|229479|252330|266947|270329|270741|299883|299889|299892|299895|299897|299899|299901|299904|299906|302506|302507|302508|302511|302512|302513|302522|302532|302534|302535|302536|302537|306913|306914|306916|306917|306918|306919|306922|306923|306924|306925|306926|306934|306935|307189|307191|307199|307201|307202|307207|307208|307211|307213|307214|368659|406861|496460|496461|501733|501959|537810|552434|655743|795841|798574|895822|895823|895824|895825|895826|895827|895828|895829|895830|895831|895832|895833|895834|895835|895836|895837|895838|895839|895840|895841|895842|895843|895844|895845|895846|895847|896225|896226|896227|896228|896229|896230|896231", "text": "Fibrochondrogenesis 2" }, { - "baseId": "38615|38616|614221", + "upstreamId": "38615|38616|614221", "text": "Type I complement component 8 deficiency" }, { - "baseId": "38626|125779|125780|125781|125782|125783|153633|153634|153635", + "upstreamId": "38626|125779|125780|125781|125782|125783|153633|153634|153635", "text": "Efavirenz response" }, { - "baseId": "38626|227805", + "upstreamId": "38626|227805", "text": "nevirapine response - Other" }, { - "baseId": "38626", + "upstreamId": "38626", "text": "efavirenz response - Dosage" }, { - "baseId": "38626", + "upstreamId": "38626", "text": "methadone response - Dosage" }, { - "baseId": "38626", + "upstreamId": "38626", "text": "efavirenz response - Toxicity/ADR" }, { - "baseId": "38628|38629|389689|389696|699194|699196|710044|721568", + "upstreamId": "38628|38629|389689|389696|699194|699196|710044|721568", "text": "Megaloblastic anemia due to dihydrofolate reductase deficiency" }, { - "baseId": "38630|38631|38632|38633|38634|38635|38636|205191|270131|335821|335826|335832|335839|335841|335842|335851|335852|335855|335858|335866|335873|335874|335879|335883|335884|345530|345533|345542|345549|345552|345553|345555|345557|345560|345561|345568|345582|345585|345590|345591|350134|350135|350136|350139|350140|350141|350142|350144|350145|350148|350149|350151|350152|350153|350154|350156|351186|351189|351190|351194|351196|351198|351199|351202|351207|351209|351210|620664|620665|622785|682487|689211|689212|694571|742471|886299|886300|886301|886302|886303|886304|886305|886306|886307|886308|886309|886310|886311|886312|886313|886314|886315|886316|886317|886318|886319|886320|886321|886322|919921|951130", + "upstreamId": "38630|38631|38632|38633|38634|38635|38636|205191|270131|335821|335826|335832|335839|335841|335842|335851|335852|335855|335858|335866|335873|335874|335879|335883|335884|345530|345533|345542|345549|345552|345553|345555|345557|345560|345561|345568|345582|345585|345590|345591|350134|350135|350136|350139|350140|350141|350142|350144|350145|350148|350149|350151|350152|350153|350154|350156|351186|351189|351190|351194|351196|351198|351199|351202|351207|351209|351210|620664|620665|622785|682487|689211|689212|694571|742471|886299|886300|886301|886302|886303|886304|886305|886306|886307|886308|886309|886310|886311|886312|886313|886314|886315|886316|886317|886318|886319|886320|886321|886322|919921|951130", "text": "Hypercalcemia, infantile, 1" }, { - "baseId": "38634", + "upstreamId": "38634", "text": "Muscle cramps" }, { - "baseId": 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+ "upstreamId": 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"text": "Hereditary sensory neuropathy type IE" }, { - "baseId": "38642|38643|38644", + "upstreamId": "38642|38643|38644", "text": "Calcification of joints and arteries" }, { - "baseId": "38646|672204", + "upstreamId": "38646|672204", "text": "Pregnancy loss, recurrent, susceptibility to, 3" }, { - "baseId": "38651|38652|38653|38654|539060|581917", + "upstreamId": "38651|38652|38653|38654|539060|581917", "text": "Geleophysic dysplasia 2" }, { - "baseId": "38660|50024|138152|138154|141073|141074|141075|141076|151752|181639|181641|181642|210711|210712|238255|238258|280141|280156|280159|280161|280165|280166|280167|280504|280508|280509|280521|280522|280523|281814|281817|281818|281821|281822|281825|281943|281944|281945|281954", + "upstreamId": "38660|50024|138152|138154|141073|141074|141075|141076|151752|181639|181641|181642|210711|210712|238255|238258|280141|280156|280159|280161|280165|280166|280167|280504|280508|280509|280521|280522|280523|281814|281817|281818|281821|281822|281825|281943|281944|281945|281954", "text": "Multiple Cutaneous and Uterine Leiomyomas" }, { - "baseId": 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+ "upstreamId": 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"text": "Dendritic cell, monocyte, B lymphocyte, and natural killer lymphocyte deficiency" }, { - "baseId": "38664|38666|47727|207040|207041|428130|428131", + "upstreamId": "38664|38666|47727|207040|207041|428130|428131", "text": "Leukemia, acute myeloid, susceptibility to" }, { - "baseId": 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+ "upstreamId": 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"text": "Lymphedema, primary, with myelodysplasia" }, { - "baseId": "38679", + "upstreamId": "38679", "text": "Aspartate aminotransferase, serum level of, quantitative trait locus 1" }, { - "baseId": 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+ "upstreamId": 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"text": "Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant" }, { - "baseId": 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+ "upstreamId": 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"text": "Mental retardation, autosomal dominant 6" }, { - "baseId": 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"text": "Epilepsy, focal, with speech disorder and with or without mental retardation" }, { - "baseId": "38690|38691|38692|38693|38694|38695|134597|134598|134599|205137|250763|250764|286995|287002|287004|287017|287018|287019|287027|287028|287042|287043|287045|287047|287048|287050|287054|287057|287059|287061|287063|287064|287068|287081|287082|287086|287758|287759|287760|287777|287789|287790|287799|287802|287803|287806|287810|287812|287813|287817|287818|287819|287820|287821|287824|287825|287826|287828|287829|287830|290135|290139|290140|290143|290146|290150|290159|290161|290166|290174|290179|290180|290192|290194|290224|290226|290237|290238|290523|290527|290544|290545|290546|290547|290551|290553|290554|290555|290558|290560|290564|290568|290577|290585|290587|290589|290592|290600|290620|290621|290622|290624|290626|290646|290647|290648|428086|428089|451373|451374|451376|451378|451539|451540|451730|451734|451736|451738|451740|451741|451742|451751|451754|451761|451768|518510|518516|518590|518592|558253|558255|558626|558628|561878|608900|608901|619840|619841|630408|630409|630410|630411|630412|695150|695151|733541|747743|774721|777304|781425|792747|819265|826902|826903|826904|826905|826906|826907|826908|826909|826910|826911|885326|885327|885328|885329|885330|885331|885332|885333|885334|885335|885336|885337|885338|885339|885340|885341|885342|885343|885344|885345|885346|885347|885348|885349|885350|885351|885352|885353|885354|885355|885356|885357|885358|885359|885360|885361|885362|885363|885364|885365|885366|885367|885368|885369|885370|885371|885372|885373|885374|885375|885376|885377|885378|885379|885380|922896|922897|922898|931549|931550|931551|939907|943083|943084|953173|953174|953175|953176|953177|959652", + "upstreamId": "38690|38691|38692|38693|38694|38695|134597|134598|134599|205137|250763|250764|286995|287002|287004|287017|287018|287019|287027|287028|287042|287043|287045|287047|287048|287050|287054|287057|287059|287061|287063|287064|287068|287081|287082|287086|287758|287759|287760|287777|287789|287790|287799|287802|287803|287806|287810|287812|287813|287817|287818|287819|287820|287821|287824|287825|287826|287828|287829|287830|290135|290139|290140|290143|290146|290150|290159|290161|290166|290174|290179|290180|290192|290194|290224|290226|290237|290238|290523|290527|290544|290545|290546|290547|290551|290553|290554|290555|290558|290560|290564|290568|290577|290585|290587|290589|290592|290600|290620|290621|290622|290624|290626|290646|290647|290648|428086|428089|451373|451374|451376|451378|451539|451540|451730|451734|451736|451738|451740|451741|451742|451751|451754|451761|451768|518510|518516|518590|518592|558253|558255|558626|558628|561878|608900|608901|619840|619841|630408|630409|630410|630411|630412|695150|695151|733541|747743|774721|777304|781425|792747|819265|826902|826903|826904|826905|826906|826907|826908|826909|826910|826911|885326|885327|885328|885329|885330|885331|885332|885333|885334|885335|885336|885337|885338|885339|885340|885341|885342|885343|885344|885345|885346|885347|885348|885349|885350|885351|885352|885353|885354|885355|885356|885357|885358|885359|885360|885361|885362|885363|885364|885365|885366|885367|885368|885369|885370|885371|885372|885373|885374|885375|885376|885377|885378|885379|885380|922896|922897|922898|931549|931550|931551|939907|943083|943084|953173|953174|953175|953176|953177|959652", "text": "Congenital myasthenic syndrome 12" }, { - "baseId": "38696|167405|792788", + "upstreamId": "38696|167405|792788", "text": "Hypertriglyceridemia, transient infantile" }, { - "baseId": "38697", + "upstreamId": "38697", "text": "FRONTOTEMPORAL LOBAR DEGENERATION WITH UBIQUITIN-POSITIVE INCLUSIONS, SUSCEPTIBILITY TO" }, { - "baseId": "38697|205022|361109|361110|539435|558220|965228", + "upstreamId": "38697|205022|361109|361110|539435|558220|965228", "text": "Ischemic stroke" }, { - "baseId": "38699|171700|610688|677039|682735", + "upstreamId": "38699|171700|610688|677039|682735", "text": "Surfactant metabolism dysfunction, pulmonary, 5" }, { - "baseId": "38703|38704|38705", + "upstreamId": "38703|38704|38705", "text": "HEMOGLOBIN H HYDROPS FETALIS SYNDROME" }, { - "baseId": "38706", + "upstreamId": "38706", "text": "Delta-beta thalassemia" }, { - "baseId": "38710", + "upstreamId": "38710", "text": "Carbamazepine hypersensitivity" }, { - "baseId": "38711|48573|195638|196233|229272|229273|229274|301312|301514|439703|439705|443694|454655|454657|454659|454661|454732|455190|455196|455462|455471|501015|520798|520800|520802|520815|520818|521053|521056|521059|521194|521197|521199|521250|521252|521260|537471|537471|559962|560171|560173|560278|560280|560282|562883|562885|562891|564834|564842|564861|609578|633511|633512|633513|633514|633515|633516|633517|633518|633519|633520|633521|651369|691758|691760|698854|698855|698856|721252|749269|782188|792641|819561|830381|830382|830383|830384|830385|830386|830387|830388|830389|830390|830391|830392|830393|830394|830395|830396|830397|830398|830399|852225|923898|923899|923900|923901|923902|923903|932741|932742|932743|932744|932745|932746|932747|944426|944427|944428|944429|944430|944431|944432|954060|954061|960556", + "upstreamId": "38711|48573|195638|196233|229272|229273|229274|301312|301514|439703|439705|443694|454655|454657|454659|454661|454732|455190|455196|455462|455471|501015|520798|520800|520802|520815|520818|521053|521056|521059|521194|521197|521199|521250|521252|521260|537471|537471|559962|560171|560173|560278|560280|560282|562883|562885|562891|564834|564842|564861|609578|633511|633512|633513|633514|633515|633516|633517|633518|633519|633520|633521|651369|691758|691760|698854|698855|698856|721252|749269|782188|792641|819561|830381|830382|830383|830384|830385|830386|830387|830388|830389|830390|830391|830392|830393|830394|830395|830396|830397|830398|830399|852225|923898|923899|923900|923901|923902|923903|932741|932742|932743|932744|932745|932746|932747|944426|944427|944428|944429|944430|944431|944432|954060|954061|960556", "text": "Usher syndrome, type 3B" }, { - "baseId": "38712", + "upstreamId": "38712", "text": "Multiple sclerosis susceptibility 1" }, { - "baseId": "38713|38714", + "upstreamId": "38713|38714", "text": "Immunoglobulin kappa light chain deficiency" }, { - "baseId": "38723|38724|38725|38726|38727|38728|181167|181168|190093|190094|207799|207800|207801|253912|354170|408021|429138|429140|429142|429144|429146|429148|429150|444684|446859|481972|486751|583108|654135|681828|791015|798628|798919|800359|818283|919304|920288|965977|965978|965979|965980|965981|965982|966038|966039|970497|980940", + "upstreamId": "38723|38724|38725|38726|38727|38728|181167|181168|190093|190094|207799|207800|207801|253912|354170|408021|429138|429140|429142|429144|429146|429148|429150|444684|446859|481972|486751|583108|654135|681828|791015|798628|798919|800359|818283|919304|920288|965977|965978|965979|965980|965981|965982|966038|966039|970497|980940", "text": "Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation" }, { - "baseId": "38734|39805|40086", + "upstreamId": "38734|39805|40086", "text": "Barrett esophagus/esophageal adenocarcinoma" }, { - "baseId": "38735|38736|38737|38738|38739|191525", + "upstreamId": "38735|38736|38737|38738|38739|191525", "text": "Retinitis pigmentosa 62" }, { - "baseId": "38745|38746|307905|307909|307912|307914|307918|307920|307921|307923|307924|307926|307930|307936|307948|307949|307950|307951|312199|312201|312204|312205|312206|312208|312210|312211|312212|312215|312218|312223|312229|312230|312231|312237|312238|312242|312248|312257|312264|312265|312275|312278|312279|312280|312281|312282|317907|317911|317920|317922|317926|317927|317930|317935|317938|317939|317945|317947|317948|317950|317951|317962|317963|317969|317973|317974|318403|318405|318406|318424|318425|318426|318428|318437|318439|318448|318450|318451|318460|318467|318473|318481|318489|318512|353856|626188|901705|901706|901707|901708|901709|901710|901712|901713|901714|901715|901716|901717|901718|901719|901720|901721|901722|901723|901724|901725|901726|901727|901728|901729|901730|901731|901732|901733|901734|901735|901736|901737|901738|901739|901740|901741|901742|901743|901744", + "upstreamId": "38745|38746|307905|307909|307912|307914|307918|307920|307921|307923|307924|307926|307930|307936|307948|307949|307950|307951|312199|312201|312204|312205|312206|312208|312210|312211|312212|312215|312218|312223|312229|312230|312231|312237|312238|312242|312248|312257|312264|312265|312275|312278|312279|312280|312281|312282|317907|317911|317920|317922|317926|317927|317930|317935|317938|317939|317945|317947|317948|317950|317951|317962|317963|317969|317973|317974|318403|318405|318406|318424|318425|318426|318428|318437|318439|318448|318450|318451|318460|318467|318473|318481|318489|318512|353856|626188|901705|901706|901707|901708|901709|901710|901712|901713|901714|901715|901716|901717|901718|901719|901720|901721|901722|901723|901724|901725|901726|901727|901728|901729|901730|901731|901732|901733|901734|901735|901736|901737|901738|901739|901740|901741|901742|901743|901744", "text": "Diaphyseal medullary stenosis-bone malignancy syndrome" }, { - "baseId": "38748|38749|38750|38751|38752|86122|86124|237596|264277|269079|270630|305332|305333|305336|305337|305339|305340|305342|305350|305352|305361|305364|305369|305374|305376|305380|305383|305384|305386|309168|309169|309174|309182|309184|309187|309189|309191|309192|314427|314428|314429|314430|314434|314438|314442|314443|314444|314446|314448|314450|314453|314455|314456|314457|314460|314461|314465|314469|314475|314477|314478|314479|314480|314483|314509|513426|513427|575491|622729|622730|622731|622732|622733|622734|622735|622736|622737|624067|679656|736677|899607|899608|899609|899610|899611|899612|899613|899614|899615|899616|899617|899618|899619|899620|899621|899622|899623|899624|899625|899626|899627|899628|899629|899630|899631|900500|900501|919154|919155", + "upstreamId": "38748|38749|38750|38751|38752|86122|86124|237596|264277|269079|270630|305332|305333|305336|305337|305339|305340|305342|305350|305352|305361|305364|305369|305374|305376|305380|305383|305384|305386|309168|309169|309174|309182|309184|309187|309189|309191|309192|314427|314428|314429|314430|314434|314438|314442|314443|314444|314446|314448|314450|314453|314455|314456|314457|314460|314461|314465|314469|314475|314477|314478|314479|314480|314483|314509|513426|513427|575491|622729|622730|622731|622732|622733|622734|622735|622736|622737|624067|679656|736677|899607|899608|899609|899610|899611|899612|899613|899614|899615|899616|899617|899618|899619|899620|899621|899622|899623|899624|899625|899626|899627|899628|899629|899630|899631|900500|900501|919154|919155", "text": "Idiopathic basal ganglia calcification 1" }, { - "baseId": "38753|920227", + "upstreamId": "38753|920227", "text": "Narcolepsy 7" }, { - "baseId": "38754|53636|53641|53680|175565|189930|189947|241811|337435|360038|426055|528396", + "upstreamId": "38754|53636|53641|53680|175565|189930|189947|241811|337435|360038|426055|528396", "text": "Sick sinus syndrome 3, susceptibility to" }, { - "baseId": "38755|38756|135087|135088|135089|135090|135091|135092|135093|207928|207929|207930|254377|254379|254380|254383|315700|315702|315703|315705|315706|315712|315713|322599|322637|322641|322655|322661|322664|322666|322672|322676|322677|322691|322692|328778|328780|328793|328794|328795|328803|328820|328821|328830|330006|330008|330012|330015|330021|330029|330035|583113|869038|869039|869040|869041|869042|869043|869044|869045|869046|869047|869048|869049|869050|869051|872168|872169|872170|872171", + "upstreamId": "38755|38756|135087|135088|135089|135090|135091|135092|135093|207928|207929|207930|254377|254379|254380|254383|315700|315702|315703|315705|315706|315712|315713|322599|322637|322641|322655|322661|322664|322666|322672|322676|322677|322691|322692|328778|328780|328793|328794|328795|328803|328820|328821|328830|330006|330008|330012|330015|330021|330029|330035|583113|869038|869039|869040|869041|869042|869043|869044|869045|869046|869047|869048|869049|869050|869051|872168|872169|872170|872171", "text": "Distal arthrogryposis type 1B" }, { - "baseId": "38759|208598|430214|430215|430216|430217|469804|470212|694415|695821|704986|716446|728184|847677|847678|847679|950783|958635", + "upstreamId": "38759|208598|430214|430215|430216|430217|469804|470212|694415|695821|704986|716446|728184|847677|847678|847679|950783|958635", "text": "Hypoglycemia, neonatal, simulating foetopathia diabetica" }, { - "baseId": "38765|38766|38767|38768|38769|46934|46935|46936|46937|46938|46939|46940|46941|46942|46943|46944|76592|76593|76594|125917|125918|125919|171824|171825|171826|171827|171828|171829|171830|171831|171832|171833|171834|171835|171836|171837|171838|171839|171840|171841|171842|171843|171844|171845|227280|296361|296367|296369|296374|296377|296378|296381|296382|296383|296393|296400|296402|296403|296413|298190|298204|298208|298210|298211|298212|298215|298217|298220|298221|298222|298223|298224|298227|298228|298231|298234|298242|298245|298246|298247|302301|302304|302305|302306|302307|302309|302310|302316|302317|302319|302321|302322|302324|302326|302327|302336|302337|302340|302347|302348|302354|302358|302376|302379|302380|302381|302519|302521|302526|302527|302552|302554|302555|302563|302570|302577|302578|302581|302585|302587|302590|302591|302592|302618|302619|302620|302622|302628|302633|302650|302651|302657|302658|302660|438307|486382|540579|721299|790526|893576|893577|893578|893579|893580|893581|893582|893583|893584|893585|893586|893587|893588|893589|893590|893591|893592|893593|893594|893595|893596|893597|893598|893599|893600|893601|893602|893603|893604|893605|893606|893607|893608|893609|896062|896063|896064|961273|961510|964244|964245|964246|966615|970150", + "upstreamId": "38765|38766|38767|38768|38769|46934|46935|46936|46937|46938|46939|46940|46941|46942|46943|46944|76592|76593|76594|125917|125918|125919|171824|171825|171826|171827|171828|171829|171830|171831|171832|171833|171834|171835|171836|171837|171838|171839|171840|171841|171842|171843|171844|171845|227280|296361|296367|296369|296374|296377|296378|296381|296382|296383|296393|296400|296402|296403|296413|298190|298204|298208|298210|298211|298212|298215|298217|298220|298221|298222|298223|298224|298227|298228|298231|298234|298242|298245|298246|298247|302301|302304|302305|302306|302307|302309|302310|302316|302317|302319|302321|302322|302324|302326|302327|302336|302337|302340|302347|302348|302354|302358|302376|302379|302380|302381|302519|302521|302526|302527|302552|302554|302555|302563|302570|302577|302578|302581|302585|302587|302590|302591|302592|302618|302619|302620|302622|302628|302633|302650|302651|302657|302658|302660|438307|486382|540579|721299|790526|893576|893577|893578|893579|893580|893581|893582|893583|893584|893585|893586|893587|893588|893589|893590|893591|893592|893593|893594|893595|893596|893597|893598|893599|893600|893601|893602|893603|893604|893605|893606|893607|893608|893609|896062|896063|896064|961273|961510|964244|964245|964246|966615|970150", "text": "Hereditary diffuse leukoencephalopathy with spheroids" }, { - "baseId": "38774|38775|168098|168100|168101|168102|168103|168104|168799|172288|172289|172291|217240|217241|217242|217243|217244|291260|291272|291275|291279|291299|292293|292300|295681|295683|295701|295716|295816|295827|295829|295836|313508|319315|481065|481066|682840|718173|918550|918551|965215|977201", + "upstreamId": "38774|38775|168098|168100|168101|168102|168103|168104|168799|172288|172289|172291|217240|217241|217242|217243|217244|291260|291272|291275|291279|291299|292293|292300|295681|295683|295701|295716|295816|295827|295829|295836|313508|319315|481065|481066|682840|718173|918550|918551|965215|977201", "text": "Robinow syndrome, autosomal dominant 1" }, { - "baseId": "38780|38781|59533|59534|578370|970515", + "upstreamId": "38780|38781|59533|59534|578370|970515", "text": "Agnathia-otocephaly complex" }, { - "baseId": "38782|38783|622429|964431|983645", + "upstreamId": "38782|38783|622429|964431|983645", "text": "Familial partial lipodystrophy 4" }, { - "baseId": "38784|38785|38786|38787|38788|38789|38790|195282|195616|227493|227494|227495|468442|469323|469728|469744|469746|470364|470366|532691|532694|533089|570471|570476|572179|572888|574862|574863|584837|647638|647639|647640|647641|647642|647643|647644|647645|647646|647647|647648|647649|647650|647651|716156|716157|716158|727896|741576|756702|756703|772380|772381|791887|821230|847225|847226|847227|847228|847229|847230|847231|847232|847233|847234|928823|928824|928825|928826|938562|938563|938564|950657|950658|950659|950660|950661|958527|958528|960280", + "upstreamId": "38784|38785|38786|38787|38788|38789|38790|195282|195616|227493|227494|227495|468442|469323|469728|469744|469746|470364|470366|532691|532694|533089|570471|570476|572179|572888|574862|574863|584837|647638|647639|647640|647641|647642|647643|647644|647645|647646|647647|647648|647649|647650|647651|716156|716157|716158|727896|741576|756702|756703|772380|772381|791887|821230|847225|847226|847227|847228|847229|847230|847231|847232|847233|847234|928823|928824|928825|928826|938562|938563|938564|950657|950658|950659|950660|950661|958527|958528|960280", "text": "Spondyloenchondrodysplasia with immune dysregulation" }, { - "baseId": "38795|40511|40513|50329|50330|50331|215529|226723|263845|273903|275469|327476|327497|327498|337334|337339|337341|337345|337346|337348|343600|343601|343604|343606|343608|345115|345118|345119|612449|620572|667832|668752|668893|671983|671984|671985|671986|671987|671988|671999|740627|876892|876893|876894|876895|876896|876897|876898|876899|876900|876901|876902|876903|876904|876905|876906|876907|880478", + "upstreamId": "38795|40511|40513|50329|50330|50331|215529|226723|263845|273903|275469|327476|327497|327498|337334|337339|337341|337345|337346|337348|343600|343601|343604|343606|343608|345115|345118|345119|612449|620572|667832|668752|668893|671983|671984|671985|671986|671987|671988|671999|740627|876892|876893|876894|876895|876896|876897|876898|876899|876900|876901|876902|876903|876904|876905|876906|876907|880478", "text": "Osteogenesis imperfecta, type VI" }, { - "baseId": "38805", + "upstreamId": "38805", "text": "Protein Z deficiency" }, { - "baseId": "38810|38811", + "upstreamId": "38810|38811", "text": "Bent bone dysplasia syndrome" }, { - "baseId": "38815|38816|38817|299872|299876|299879|299880|302492|302497|302501|302502|302505|306907|306908|306909|307182|307185|307186|455509|455616|456335|456344|521554|521555|522226|522229|539436|539440|560682|560760|560762|560765|560767|560776|563511|634815|634816|634817|634818|634819|634820|634821|634822|735606|831808|831809|831810|831811|831812|831813|831814|831815|831816|851070|858662|858663|895817|895818|895819|895820|895821|924327|933274|933275|933276|933277|944965|944966|944967|944968|944969|944970|944971|944972", + "upstreamId": "38815|38816|38817|299872|299876|299879|299880|302492|302497|302501|302502|302505|306907|306908|306909|307182|307185|307186|455509|455616|456335|456344|521554|521555|522226|522229|539436|539440|560682|560760|560762|560765|560767|560776|563511|634815|634816|634817|634818|634819|634820|634821|634822|735606|831808|831809|831810|831811|831812|831813|831814|831815|831816|851070|858662|858663|895817|895818|895819|895820|895821|924327|933274|933275|933276|933277|944965|944966|944967|944968|944969|944970|944971|944972", "text": "Proteasome-associated autoinflammatory syndrome 1" }, { - "baseId": "38832", + "upstreamId": "38832", "text": "Congenital myopathy with cores" }, { - "baseId": "38843|135661|201395|201407|391627|859024|922331|976644|976645", + "upstreamId": "38843|135661|201395|201407|391627|859024|922331|976644|976645", "text": "Episodic ataxia type 9" }, { - "baseId": "38843", + "upstreamId": "38843", "text": "SCN2A-related condition" }, { - "baseId": "38847|38848|204993|204994", + "upstreamId": "38847|38848|204993|204994", "text": "Peeling skin syndrome 4" }, { - "baseId": "38849|38850", + "upstreamId": "38849|38850", "text": "Spermatogenic failure 8" }, { - "baseId": "38853|614381", + "upstreamId": "38853|614381", "text": "Okt4 epitope deficiency" }, { - "baseId": "38862|38863|38864|38865|49466|242958|242961|329600|329602|329604|329606|329607|329614|339838|339843|339850|339862|339878|339888|339896|339905|345603|345607|345611|345612|345613|345614|345615|345621|345622|346931|346932|346943|346949|346958|346959|346973|376529|402488|403073|426726|426726|468759|574607|626463|822139|878266|878267|878268|878269|878270|878271|878272|878273|878274|878275|878276|878277|878278|878279|878280|878281|878282|878283|878284|878285|878286|878287|878288|878289|880569|880570", + "upstreamId": "38862|38863|38864|38865|49466|242958|242961|329600|329602|329604|329606|329607|329614|339838|339843|339850|339862|339878|339888|339896|339905|345603|345607|345611|345612|345613|345614|345615|345621|345622|346931|346932|346943|346949|346958|346959|346973|376529|402488|403073|426726|426726|468759|574607|626463|822139|878266|878267|878268|878269|878270|878271|878272|878273|878274|878275|878276|878277|878278|878279|878280|878281|878282|878283|878284|878285|878286|878287|878288|878289|880569|880570", "text": "Acrodysostosis 1 with or without hormone resistance" }, { - "baseId": "38868|38869|190071|190072|190073|227389|552202|791743|980553", + "upstreamId": "38868|38869|190071|190072|190073|227389|552202|791743|980553", "text": "Hypothyroidism, congenital, nongoitrous, 6" }, { - "baseId": "38876|188095|310969|310971|310973|310986|310987|310991|310993|311004|311007|311008|311009|316280|316281|316284|316300|316302|316305|316310|316311|316317|316318|316324|316328|316336|316339|316340|322373|322376|322377|322378|322379|322380|322387|322388|322390|322392|322403|322410|322961|322965|322966|322977|322983|322986|322998|322999|323003|866241|866242|866243|866244|866245|866246|866247|866248|866249|866250|866251|866252|866253|866254|866255|868500", + "upstreamId": "38876|188095|310969|310971|310973|310986|310987|310991|310993|311004|311007|311008|311009|316280|316281|316284|316300|316302|316305|316310|316311|316317|316318|316324|316328|316336|316339|316340|322373|322376|322377|322378|322379|322380|322387|322388|322390|322392|322403|322410|322961|322965|322966|322977|322983|322986|322998|322999|323003|866241|866242|866243|866244|866245|866246|866247|866248|866249|866250|866251|866252|866253|866254|866255|868500", "text": "Quebec platelet disorder" }, { - "baseId": "38882|143263|143264|205334|214759|237814|237815|264811|362166|425234|481426|511146|552248|624872|792160|792161|858270|917760|961637|971189", + "upstreamId": "38882|143263|143264|205334|214759|237814|237815|264811|362166|425234|481426|511146|552248|624872|792160|792161|858270|917760|961637|971189", "text": "N-terminal acetyltransferase deficiency" }, { - "baseId": "38890|48505|48506|48507|96880|138333|138335|170111|181481|181482|181483|181484|188071|190610|209050|209052|209053|213669|257839|257840|260327|268639|380059|384426|424676|470828|472154|472155|481225|512682|535170|535357|535358|550379|550655|552258|573882|575415|611451|624875|650055|650056|650057|650058|653785|653786|677330|679813|679814|694884|695906|706232|706233|800316|800317|850063|858796|951803|960383|963977|964903|964904|967283|969761|969762|969763|969764|969765|969766|969767|969882|969883|969884|969885|969886|971206|973107|976687|976703", + "upstreamId": "38890|48505|48506|48507|96880|138333|138335|170111|181481|181482|181483|181484|188071|190610|209050|209052|209053|213669|257839|257840|260327|268639|380059|384426|424676|470828|472154|472155|481225|512682|535170|535357|535358|550379|550655|552258|573882|575415|611451|624875|650055|650056|650057|650058|653785|653786|677330|679813|679814|694884|695906|706232|706233|800316|800317|850063|858796|951803|960383|963977|964903|964904|967283|969761|969762|969763|969764|969765|969766|969767|969882|969883|969884|969885|969886|971206|973107|976687|976703", "text": "Kabuki syndrome 2" }, { - "baseId": "38900|38901|38902|38903|48574|339104|339107|348657|348662|352180|404851|902983|902984|902985|964595", + "upstreamId": "38900|38901|38902|38903|48574|339104|339107|348657|348662|352180|404851|902983|902984|902985|964595", "text": "Deafness, X-linked 4" }, { - "baseId": "38905|38906|38907|38908|38909|167455|257862|339510|349006|349009|349010|352384|352385|352933|352934|352935|352936|534923|650131|858692|861439|903159|903160|903161|903162|903163|903164|903165|903166|903167|903168|939652|939653|951859", + "upstreamId": "38905|38906|38907|38908|38909|167455|257862|339510|349006|349009|349010|352384|352385|352933|352934|352935|352936|534923|650131|858692|861439|903159|903160|903161|903162|903163|903164|903165|903166|903167|903168|939652|939653|951859", "text": "Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia" }, { - "baseId": "38911", + "upstreamId": "38911", "text": "Keratosis follicularis spinulosa decalvans, X-linked" }, { - "baseId": "38912|38913|38914|38915|38916|214810|263296|353912", + "upstreamId": "38912|38913|38914|38915|38916|214810|263296|353912", "text": "Megalocornea" }, { - "baseId": "38917|100523|100737|213850|213851|213864|404245|411320|584392|849945|917367|917575|920526|921514|969201|970103|970104|970105|970106|970107|970108|970109|970110|970111|970112|970113|970114|970115|970116|970117|970118|970119|970120|970121|970122|970123|972534|975759|977302|980134|980135|980137|983935|983936|983937|984015|984017", + "upstreamId": "38917|100523|100737|213850|213851|213864|404245|411320|584392|849945|917367|917575|920526|921514|969201|970103|970104|970105|970106|970107|970108|970109|970110|970111|970112|970113|970114|970115|970116|970117|970118|970119|970120|970121|970122|970123|972534|975759|977302|980134|980135|980137|983935|983936|983937|984015|984017", "text": "Dystrophinopathies" }, { - "baseId": "38917|100520|100526|100534|100584|100683|100748|100761|101999|135741|171248|193535|198575|213848|265659|266626|266735|272508|272743|273101|275358|275412|313563|313602|339160|404291|404553|415778|433498|442428|446624|446630|470744|471494|492088|508553|510948|510954|534738|574529|574628|575403|589742|649978|649979|650006|650012|654968|656768|669966|670892|743300|773985|773998|786798|816418|816418|816419|816420|816432|849929|849949|849954|849975|850006|850016|980100", + "upstreamId": "38917|100520|100526|100534|100584|100683|100748|100761|101999|135741|171248|193535|198575|213848|265659|266626|266735|272508|272743|273101|275358|275412|313563|313602|339160|404291|404553|415778|433498|442428|446624|446630|470744|471494|492088|508553|510948|510954|534738|574529|574628|575403|589742|649978|649979|650006|650012|654968|656768|669966|670892|743300|773985|773998|786798|816418|816418|816419|816420|816432|849929|849949|849954|849975|850006|850016|980100", "text": "Dystrophin deficiency" }, { - "baseId": "38924|38925|614507", + "upstreamId": "38924|38925|614507", "text": "Atypical mycobacteriosis, familial, X-linked 2" }, { - "baseId": "38936|38937|102107|102108|135014|411494|439097|472216|534862|534976|535088|574029|574993|614142|650255|650256|650257|650258|650259|650260|653794|677000|677001|677002|706323|758664|758665|758666|758667|758668|821516|821517|850325|853047|920070|939693|940568|951900|951901|951902|959363|959364|959365|964635", + "upstreamId": "38936|38937|102107|102108|135014|411494|439097|472216|534862|534976|535088|574029|574993|614142|650255|650256|650257|650258|650259|650260|653794|677000|677001|677002|706323|758664|758665|758666|758667|758668|821516|821517|850325|853047|920070|939693|940568|951900|951901|951902|959363|959364|959365|964635", "text": "Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia" }, { - "baseId": "38943|136563|136564|136565|136566|136567|136568|208918|379031|379034|379035|379928|380442|384425|422422|426413|446520|470535|471783|471783|471787|472077|481445|507782|507783|534580|534581|534644|534646|534652|534656|535068|552245|573636|573640|575348|575349|575350|580675|612338|614499|649753|649754|649755|649756|649757|649758|649759|649760|653501|653777|717696|789085|792137|792138|802044|816499|821566|822217|849717|849718|849719|849720|849721|849722|849723|849724|929595|929596|929597|939464|939465|940543|951636|951637|951638|959183|961636|972803|977299", + "upstreamId": "38943|136563|136564|136565|136566|136567|136568|208918|379031|379034|379035|379928|380442|384425|422422|426413|446520|470535|471783|471783|471787|472077|481445|507782|507783|534580|534581|534644|534646|534652|534656|535068|552245|573636|573640|575348|575349|575350|580675|612338|614499|649753|649754|649755|649756|649757|649758|649759|649760|653501|653777|717696|789085|792137|792138|802044|816499|821566|822217|849717|849718|849719|849720|849721|849722|849723|849724|929595|929596|929597|939464|939465|940543|951636|951637|951638|959183|961636|972803|977299", "text": "Multiple congenital anomalies-hypotonia-seizures syndrome 2" }, { - "baseId": "38945|38946", + "upstreamId": "38945|38946", "text": "Autism, susceptibility to, X-linked 5" }, { - "baseId": "38957", + "upstreamId": "38957", "text": "Dystonia, mitochondrial" }, { - "baseId": "38961", + "upstreamId": "38961", "text": "Interstitial nephritis" }, { - "baseId": "38963|38964|38965|38966|38967|38968|38969|38970|38971|38972|38973|38974|38975|40347|79652|79656|79657|131873|131874|131875|131876|131877|131878|131879|131880|131881|131883|131884|131885|131886|207700|207701|207703|213590|213591|262269|307876|307885|307888|307897|307899|307904|307911|307915|307917|307955|307957|307958|307960|307961|307963|312169|312176|312178|312182|312187|312189|312191|312284|312286|312303|312307|317849|317853|317858|317859|317870|317871|317874|317875|317882|317895|317910|317925|317981|317984|317985|317989|317990|318354|318355|318361|318363|318371|318375|318376|318377|318382|318401|318513|318522|318525|318541|318544|318545|318550|318556|318557|353884|384434|428990|428991|428992|444460|513587|552140|579643|579683|611443|612284|682813|790884|790885|790886|818146|901678|901679|901680|901681|901682|901683|901684|901685|901686|901687|901688|901689|901690|901691|901692|901693|901694|901695|901696|901697|901698|901699|901700|901701|901702|901703|901704|901711|901745|901746|901747|901748|901749|901750|901751|901752|901753|901754|901755|901756|901757|901758|901759|903370|903371|903372|903373|903374|919221|964327|964328|964329|964330|969544|969787|969788|970907|970908|970909|970910|973027|976657|980934", + "upstreamId": "38963|38964|38965|38966|38967|38968|38969|38970|38971|38972|38973|38974|38975|40347|79652|79656|79657|131873|131874|131875|131876|131877|131878|131879|131880|131881|131883|131884|131885|131886|207700|207701|207703|213590|213591|262269|307876|307885|307888|307897|307899|307904|307911|307915|307917|307955|307957|307958|307960|307961|307963|312169|312176|312178|312182|312187|312189|312191|312284|312286|312303|312307|317849|317853|317858|317859|317870|317871|317874|317875|317882|317895|317910|317925|317981|317984|317985|317989|317990|318354|318355|318361|318363|318371|318375|318376|318377|318382|318401|318513|318522|318525|318541|318544|318545|318550|318556|318557|353884|384434|428990|428991|428992|444460|513587|552140|579643|579683|611443|612284|682813|790884|790885|790886|818146|901678|901679|901680|901681|901682|901683|901684|901685|901686|901687|901688|901689|901690|901691|901692|901693|901694|901695|901696|901697|901698|901699|901700|901701|901702|901703|901704|901711|901745|901746|901747|901748|901749|901750|901751|901752|901753|901754|901755|901756|901757|901758|901759|903370|903371|903372|903373|903374|919221|964327|964328|964329|964330|969544|969787|969788|970907|970908|970909|970910|973027|976657|980934", "text": "Nicolaides-Baraitser syndrome" }, { - "baseId": "38972|181453|263192|511891|805140|969777|969881|969887", + "upstreamId": "38972|181453|263192|511891|805140|969777|969881|969887", "text": "Hirsutism" }, { - "baseId": "38976", + "upstreamId": "38976", "text": "Split-hand/foot malformation 1 with sensorineural hearing loss" }, { - "baseId": "38978|273103|273131|320738|329581|329582|329583|329584|329585|329586|336193|336203|336206|336207|338097|338103|338104|338106|769832|791415|871960|871961|871962|871963|871964|871965|871966|871967|871968|871969|871970", + "upstreamId": "38978|273103|273131|320738|329581|329582|329583|329584|329585|329586|336193|336203|336206|336207|338097|338103|338104|338106|769832|791415|871960|871961|871962|871963|871964|871965|871966|871967|871968|871969|871970", "text": "Pituitary hormone deficiency, combined 6" }, { - "baseId": 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508|936509|936510|936511|936512|936513|936514|936515|936516|940294|940295|940296|948424|948425|948426|948427|948428|948429|948430|948431|948432|948433|948434|948435|948436|948437|957143|957144|957145|957146|957147|960075|960076|961823|962985|962986|970987|970988|976531", "text": "Charcot-Marie-Tooth disease, axonal, type 2O" }, { - "baseId": "38984|38987|38988|38989|143271|143271|178391|208060|208069|360017|360026|404814|463993|504329|504331|528251|528267|536869|552169|567795|614387|614388|614389|614390|614391|614392|625287|861578|906346|976531", + "upstreamId": "38984|38987|38988|38989|143271|143271|178391|208060|208069|360017|360026|404814|463993|504329|504331|528251|528267|536869|552169|567795|614387|614388|614389|614390|614391|614392|625287|861578|906346|976531", "text": "Spinal muscular atrophy, lower extremity predominant 1, autosomal dominant" }, { - "baseId": "38985|38986|70507|70508|70509|143271|178391|205703|205704|208060|208062|208069|208078|213627|225860|360026|404814|409059|429525|429533|432219|463993|481362|488159|504329|504331|528251|528267|536869|552168|552170|567795|614387|614388|614389|614390|614391|614392|642069|642109|788878|789143|861578|906346|963773|964405|964406|964407|964408|964409|964410|964411|965741|965990|965991|965992|970985|970986|976531", + "upstreamId": "38985|38986|70507|70508|70509|143271|178391|205703|205704|208060|208062|208069|208078|213627|225860|360026|404814|409059|429525|429533|432219|463993|481362|488159|504329|504331|528251|528267|536869|552168|552170|567795|614387|614388|614389|614390|614391|614392|642069|642109|788878|789143|861578|906346|963773|964405|964406|964407|964408|964409|964410|964411|965741|965990|965991|965992|970985|970986|976531", "text": "Mental retardation, autosomal dominant 13" }, { - "baseId": "38990|38991|38992|38993|38994|38995|38996|48575|106816|106817|297832|297834|297841|297844|297848|297849|297851|297852|297858|297859|297864|297873|297884|297895|297896|297901|300009|300010|300014|300017|300032|300034|300041|300058|300069|300073|300081|300082|300083|300085|304246|304256|304258|304268|304270|304280|304283|304285|304287|304290|304292|304293|304302|304310|304322|304563|304568|304574|304575|304576|304578|304579|304582|304604|304616|304619|304630|304636|304638|304639|304642|304645|304648|304650|304651|304654|304657|304665|304666|304667|304670|304673|304676|304688|428440|550850|578437|735144|894526|894527|894528|894529|894530|894531|894532|894533|894534|894535|894536|894537|894538|894539|894540|894541|894542|894543|894544|894545|894546|894547|894548|894549|894550|894551|894552|894553|894554|894555|894556|894557|894558|894559|894560|894561|894562|894563|894564|894565|894566|894567|894568|894569|894570|894571|894572|894573|894574|894575|894576|896118|896119|896120|896121|918974|970811|977215|977216", + "upstreamId": 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"text": "Acrodysostosis 2, with or without hormone resistance" }, { - "baseId": "38997|100923|100926|100934|100935|100936|100937|100939|100940|100942|100944|100949|100952|100954|100956|100957|100958|100959|100962|100963|100964|100965|100966|100967|100970|137671|137672|169206|169216|169217|169241|169249|169257|177650|177653|191800|192013|192117|192379|192980|193132|193186|193789|265764|272980|465740|490287|530101|530304|567503|570296|576341|580079|580124|622484|644676|644677|644678|644679|644680|644681|644682|644683|644684|644685|652563|652630|652851|682919|693866|695695|695696|726633|770904|776345|778419|820828|820829|820831|820832|820833|820834|820835|822118|843862|843863|843864|843865|843866|843867|843868|843869|843870|843871|852820|918471|927815|927816|927817|927818|937453|937454|941136|949400|949401|949402|957762|957763|957764|957765|961547", + "upstreamId": "38997|100923|100926|100934|100935|100936|100937|100939|100940|100942|100944|100949|100952|100954|100956|100957|100958|100959|100962|100963|100964|100965|100966|100967|100970|137671|137672|169206|169216|169217|169241|169249|169257|177650|177653|191800|192013|192117|192379|192980|193132|193186|193789|265764|272980|465740|490287|530101|530304|567503|570296|576341|580079|580124|622484|644676|644677|644678|644679|644680|644681|644682|644683|644684|644685|652563|652630|652851|682919|693866|695695|695696|726633|770904|776345|778419|820828|820829|820831|820832|820833|820834|820835|822118|843862|843863|843864|843865|843866|843867|843868|843869|843870|843871|852820|918471|927815|927816|927817|927818|937453|937454|941136|949400|949401|949402|957762|957763|957764|957765|961547", "text": "Rubinstein-Taybi syndrome" }, { - "baseId": 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+ "upstreamId": "39005|39006|39007|426184|433824|433825|433826|433829|433830|433831|433832|438794|466042|466043|466044|466046|466779|466781|466782|466797|466806|466807|466807|466809|466811|466813|466814|466815|467072|467074|467077|467079|467086|467093|467096|467098|530317|530318|530320|530325|530328|530331|530334|530337|530338|530403|530407|530412|530420|530427|530583|530586|530588|530591|530593|530600|530797|530801|530804|530808|530811|530814|530821|530825|530830|530836|530838|530841|530843|567548|568406|568407|568411|568412|568416|568420|568423|570515|570519|570523|570524|570526|570530|570531|570533|570574|570576|570577|570578|570578|574181|574182|574183|574184|574185|574186|574187|610028|610028|610030|610031|610033|613046|614430|614430|624613|645030|645031|645032|645033|645034|645035|645036|645037|645038|645039|645040|645041|645042|645043|645044|645045|645046|645047|645048|645049|645050|645051|645052|645053|645054|645055|645056|645057|645058|645059|645060|645061|652759|652761|652765|652769|703844|703845|715100|715101|715102|715103|726809|726810|726811|726812|726813|726814|726815|726816|726817|726818|731098|740374|740375|740377|740379|740381|755409|755412|755417|755418|755419|755420|755422|755426|760529|760531|771089|771093|771096|771103|776379|776383|779850|785393|785394|785396|785398|816340|822121|844388|844389|844390|844391|844392|844393|844394|844395|844396|844397|844398|844399|844400|844401|844402|844403|844404|844405|844406|844407|844408|844409|844410|844411|844412|852833|927968|927969|927970|927971|927972|927973|927974|927975|927976|937633|937634|937635|937636|937637|937638|937639|937640|937641|937642|941148|949602|949603|949604|949605|949606|949607|949608|949609|949610|949611|949612|957895|957896|957897|957898|957899|957900|957901|960180|960181", "text": "Familial cold autoinflammatory syndrome 3" }, { - "baseId": "39010|39011|39012|39013|39014|39015|39016|138702|138703|138704|138706|138707|138710|138711|138713|138714|138716|138717|138722|138724|138726|193068|193148|193953|194086|224678|249378|249379|249380|249381|268080|270663|270783|270855|270887|273621|274044|275095|275203|275435|447065|447071|447161|447170|447179|447244|447249|488855|489054|491424|494205|509039|509040|513232|515029|515031|515128|515139|536068|556572|556609|556899|584340|585705|608918|612470|612495|626736|626737|626739|650571|731635|789832|789833|789836|789837|789838|822624|822625|921612|921613|921614|921615|921617|930005|941412|941413|941414|952040|962054|964126", + "upstreamId": "39010|39011|39012|39013|39014|39015|39016|138702|138703|138704|138706|138707|138710|138711|138713|138714|138716|138717|138722|138724|138726|193068|193148|193953|194086|224678|249378|249379|249380|249381|268080|270663|270783|270855|270887|273621|274044|275095|275203|275435|447065|447071|447161|447170|447179|447244|447249|488855|489054|491424|494205|509039|509040|513232|515029|515031|515128|515139|536068|556572|556609|556899|584340|585705|608918|612470|612495|626736|626737|626739|650571|731635|789832|789833|789836|789837|789838|822624|822625|921612|921613|921614|921615|921617|930005|941412|941413|941414|952040|962054|964126", "text": "Hajdu-Cheney syndrome" }, { - "baseId": "39018|133411|133417|133422|141632|180244|180245|240014|240015|240018|244492|244497|407093|407096|575755|575756|575760", + "upstreamId": "39018|133411|133417|133422|141632|180244|180245|240014|240015|240018|244492|244497|407093|407096|575755|575756|575760", "text": "Fanconi anemia, complementation group U" }, { - "baseId": "39018|132703|205033|205034|205035|205036|205037|205038|205039|205040|654386|678062|678063", + "upstreamId": "39018|132703|205033|205034|205035|205036|205037|205038|205039|205040|654386|678062|678063", "text": "Short stature, microcephaly, and endocrine dysfunction" }, { - "baseId": "39019|39020|39021|39022|39023|429069", + "upstreamId": "39019|39020|39021|39022|39023|429069", "text": "46,XY sex reversal 8" }, { - "baseId": "39024|39025|39026|237408|299836|299838|299839|299841|299845|299847|299850|299852|299854|299855|299862|299870|302423|302444|302461|302463|302468|302475|302478|302482|302483|302485|302490|306854|306855|306864|306865|306866|306875|306881|306887|306888|306889|306893|306904|307139|307145|307147|307149|307151|307155|307157|307160|307169|307170|307177|307178|307180|364046|552104|620226|620227|677032|699530|788797|816461|857618|857619|895794|895795|895796|895797|895798|895799|895800|895801|895802|895803|895804|895805|895806|895807|895808|895809|895810|895811|895812|895813|895814|895815|895816|896220|896221|896222|896223|896224|917794|917795", + "upstreamId": "39024|39025|39026|237408|299836|299838|299839|299841|299845|299847|299850|299852|299854|299855|299862|299870|302423|302444|302461|302463|302468|302475|302478|302482|302483|302485|302490|306854|306855|306864|306865|306866|306875|306881|306887|306888|306889|306893|306904|307139|307145|307147|307149|307151|307155|307157|307160|307169|307170|307177|307178|307180|364046|552104|620226|620227|677032|699530|788797|816461|857618|857619|895794|895795|895796|895797|895798|895799|895800|895801|895802|895803|895804|895805|895806|895807|895808|895809|895810|895811|895812|895813|895814|895815|895816|896220|896221|896222|896223|896224|917794|917795", "text": "Trichohepatoenteric syndrome 2" }, { - "baseId": "39027|39028|508785|508786|508787", + "upstreamId": "39027|39028|508785|508786|508787", "text": "Parkinson disease 18" }, { - "baseId": "39029|39030|39031|39032|39033|227258|268102|269243|269771|270877|270999|274304|452231|452234|452359|491384|518796|519048|519204|558866|586117|614259|631111|651110|686381|686382|691350|691351|691353|691357|695191|697980|697981|720347|798525|799319|816309|819292|827774|827775|827776|827777|918819|918820|920191|969769|980449", + "upstreamId": "39029|39030|39031|39032|39033|227258|268102|269243|269771|270877|270999|274304|452231|452234|452359|491384|518796|519048|519204|558866|586117|614259|631111|651110|686381|686382|691350|691351|691353|691357|695191|697980|697981|720347|798525|799319|816309|819292|827774|827775|827776|827777|918819|918820|920191|969769|980449", "text": "3MC syndrome 1" }, { - "baseId": "39038|39038|39039|39039|39040|39040|39041|39042|39043|39044|39045|39046|39047|39048|39049|153735|153736|153737|153737|170197|170197|204402|204403|246906|283703|283706|283707|283708|284378|284382|286359|286368|286372|286373|286374|286714|286717|286719|286729|286732|286734|405526|414861|450165|450340|450469|517473|517475|517560|517561|517596|517597|517751|517762|557800|557802|559021|559510|559512|629241|629242|629243|629244|629245|629246|629246|629247|629248|629248|629249|629250|629251|650934|650935|743858|743869|762743|778989|781101|792652|815887|819094|825519|825520|825521|825522|825523|825524|825525|825526|825527|825528|825529|825530|825531|825532|825533|825534|850870|922499|922500|922501|931065|942534|942535|942536|952869|952870|952871|952872|952873|959617|960460|964448", + "upstreamId": "39038|39038|39039|39039|39040|39040|39041|39042|39043|39044|39045|39046|39047|39048|39049|153735|153736|153737|153737|170197|170197|204402|204403|246906|283703|283706|283707|283708|284378|284382|286359|286368|286372|286373|286374|286714|286717|286719|286729|286732|286734|405526|414861|450165|450340|450469|517473|517475|517560|517561|517596|517597|517751|517762|557800|557802|559021|559510|559512|629241|629242|629243|629244|629245|629246|629246|629247|629248|629248|629249|629250|629251|650934|650935|743858|743869|762743|778989|781101|792652|815887|819094|825519|825520|825521|825522|825523|825524|825525|825526|825527|825528|825529|825530|825531|825532|825533|825534|850870|922499|922500|922501|931065|942534|942535|942536|952869|952870|952871|952872|952873|959617|960460|964448", "text": "Immunodeficiency 31C" }, { - "baseId": "39039", + "upstreamId": "39039", "text": "Chronic mucocutaneous candidiasis" }, { - "baseId": "39050|99491|99496|99503|177214|192291|201649|201653|201655|201657|201675|201678|201686|201691|201720|201721|405989|495430|518499|550773|614247", + "upstreamId": "39050|99491|99496|99503|177214|192291|201649|201653|201655|201657|201675|201678|201686|201691|201720|201721|405989|495430|518499|550773|614247", "text": "Schizophrenia 17" }, { - "baseId": "39054|39056|39057|39058|39058|39061|39062|53503|457788", + "upstreamId": "39054|39056|39057|39058|39058|39061|39062|53503|457788", "text": "Ventricular septal defect 1" }, { - "baseId": "39065|39066", + "upstreamId": "39065|39066", "text": "Nephrotic syndrome, type 6" }, { - "baseId": "39070|39071|39072|395449", + "upstreamId": "39070|39071|39072|395449", "text": "Ventricular septal defect 3" }, { - "baseId": "39075", + "upstreamId": "39075", "text": "Familial periodic paralysis" }, { - "baseId": "39079|75271|135691|135695|135696|135699|139369|139369|142775|165903|165904|165905|171736|190110|190111|192849|202713|202741|202742|202756|202761|205018|205018|214541|225856|247710|247711|247712|247713|247714|247715|247716|247717|247718|247719|247720|247721|247722|247723|247724|247725|247726|247727|247728|247729|247730|247731|247732|274242|361206|361207|375261|408704|408707|424662|429437|429438|442469|481456|486752|512030|513321|538432|571890|614378|622135|641224|677439|677440|682181|791254|791255|791256|791257|802002|802003|802055|816524|857654|858349|858350|858351|858352|858353|919451|919452|919453|961526|963766|964390|964391|964392|964393|964394|970968|970969|977256", + "upstreamId": "39079|75271|135691|135695|135696|135699|139369|139369|142775|165903|165904|165905|171736|190110|190111|192849|202713|202741|202742|202756|202761|205018|205018|214541|225856|247710|247711|247712|247713|247714|247715|247716|247717|247718|247719|247720|247721|247722|247723|247724|247725|247726|247727|247728|247729|247730|247731|247732|274242|361206|361207|375261|408704|408707|424662|429437|429438|442469|481456|486752|512030|513321|538432|571890|614378|622135|641224|677439|677440|682181|791254|791255|791256|791257|802002|802003|802055|816524|857654|858349|858350|858351|858352|858353|919451|919452|919453|961526|963766|964390|964391|964392|964393|964394|970968|970969|977256", "text": "Early infantile epileptic encephalopathy 13" }, { - "baseId": "39081|97393", + "upstreamId": "39081|97393", "text": "Aldosterone-producing adrenal adenoma, somatic" }, { - "baseId": "39082|199803|230626|496794", + "upstreamId": "39082|199803|230626|496794", "text": "Diffuse interstitial pulmonary fibrosis" }, { - "baseId": "39087|48221|48222|92733|171866|171868|171873|171874|200400|200401|200402|200403|200404|200405|200406|200407|200408|200409|205794|205795|208716|208717|208718|208721|208722|215106|225882|271849|353886|360481|362432|362451|377240|377244|377246|377248|377261|377262|378397|378412|378421|378435|379772|379777|379779|379780|410857|410861|410863|422355|422362|430426|430427|430428|430430|430970|431925|446321|446324|446325|469618|469619|469620|469621|469624|470570|470660|470664|470665|470667|471076|471195|471199|471643|471646|497342|507355|507358|508310|533860|533872|533876|533877|533882|533884|533886|533888|533890|533896|533908|533916|533920|533930|550373|571556|573129|573716|573793|575165|577893|580584|580703|586014|589813|611436|611918|614482|615979|648990|648991|648992|648993|648994|648995|648996|648997|648998|648999|649000|653898|654150|656660|680058|705690|728910|757799|773337|773338|773340|773343|773344|786491|786493|798768|821353|821373|822176|822177|822178|822179|822180|822181|822182|822183|822184|822185|822186|822282|822283|822284|848794|848795|848796|848797|848798|848799|848800|848801|848802|848803|848804|904257|919935|919936|929321|929322|929323|929324|939113|939114|939115|939116|951236|951237|951238|951239|951240|958963|958964|963924|964546|964547|964548|964736|966014|966044|966045|971155|972801", + "upstreamId": 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"text": "Mental retardation, autosomal dominant 7" }, { - "baseId": 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+ "upstreamId": 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"text": "Aortic aneurysm, familial thoracic 7" }, { - "baseId": "39092|39093|39094|39095|39096|513301|969283|969284", + "upstreamId": "39092|39093|39094|39095|39096|513301|969283|969284", "text": "Craniosynostosis and dental anomalies" }, { - "baseId": "39097|192301|192302|192304|192304|193485|194352|260581|271395|275012|315166|315168|315170|315171|315175|315181|315182|315189|315190|315195|315196|315200|315203|321989|322012|322013|322017|322020|322026|328077|328092|328113|328117|328123|328124|328131|328132|329346|329356|329359|329368|329370|329372|329391|433909|536181|590441|590442|620420|724739|738291|868783|868784|868785|868786|868787|868788|868789|868790|868791|868792|868793|868794|868795|868796|868797", + "upstreamId": "39097|192301|192302|192304|192304|193485|194352|260581|271395|275012|315166|315168|315170|315171|315175|315181|315182|315189|315190|315195|315196|315200|315203|321989|322012|322013|322017|322020|322026|328077|328092|328113|328117|328123|328124|328131|328132|329346|329356|329359|329368|329370|329372|329391|433909|536181|590441|590442|620420|724739|738291|868783|868784|868785|868786|868787|868788|868789|868790|868791|868792|868793|868794|868795|868796|868797", "text": "Osteogenesis imperfecta type 10" }, { - "baseId": "39100|39101|39102|39103|213561|246988|263526|424269|424270|428439|455034|455051|455218|455223|455227|455231|455680|455682|455689|508801|508802|508803|508804|508805|508806|521517|521577|521581|521844|563184|563196|633987|633988|633989|633990|633991|691871|691872|691873|691874|699120|699121|699122|699123|699124|699128|709954|777608|821921|821922|830904|918973|944639|970810", + "upstreamId": "39100|39101|39102|39103|213561|246988|263526|424269|424270|428439|455034|455051|455218|455223|455227|455231|455680|455682|455689|508801|508802|508803|508804|508805|508806|521517|521577|521581|521844|563184|563196|633987|633988|633989|633990|633991|691871|691872|691873|691874|699120|699121|699122|699123|699124|699128|709954|777608|821921|821922|830904|918973|944639|970810", "text": "46,XY sex reversal, type 6" }, { - "baseId": "39110|48337|48338|247502", + "upstreamId": "39110|48337|48338|247502", "text": "High density lipoprotein cholesterol level quantitative trait locus 6" }, { - "baseId": "39115|39548|39551|79366|253214|253218|270642|306119|310158|310160|310176|458107|692527|692528|700686|835158|835159|835160|835161|835162|835163|835164|835165|835166|900611|934450|934451|946230|946231|946232|946233|946234|946235|955528|955529|955530", + "upstreamId": "39115|39548|39551|79366|253214|253218|270642|306119|310158|310160|310176|458107|692527|692528|700686|835158|835159|835160|835161|835162|835163|835164|835165|835166|900611|934450|934451|946230|946231|946232|946233|946234|946235|955528|955529|955530", "text": "Microphthalmia, isolated, with coloboma 6" }, { - "baseId": "39116|39117|39118|39119|39120|512886", + "upstreamId": "39116|39117|39118|39119|39120|512886", "text": "Fleck retina, familial benign" }, { - "baseId": "39121|167827|413648", + "upstreamId": "39121|167827|413648", "text": "Cutaneous telangiectasia and cancer syndrome, familial" }, { - "baseId": 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0|963211|963212|963214|963216|963217|963219|963220|963221|963222|965947|967262", 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0|963211|963212|963214|963216|963217|963219|963220|963221|963222|965947|967262", "text": "Spastic paraplegia 30, autosomal recessive" }, { - "baseId": 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+ "upstreamId": 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"text": "Intellectual disability, autosomal dominant 9" }, { - "baseId": "39125|204420|204421|417248|806368", + "upstreamId": "39125|204420|204421|417248|806368", "text": "PEHO syndrome" }, { - "baseId": 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+ "upstreamId": 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"text": "Hereditary sensory and autonomic neuropathy type IIC" }, { - "baseId": 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93265|793267|793268|796133|796137|805011|834168|834169|834170|834171|834172|834173|834174|834175|834176|834177|834178|834179|834180|834181|834182|834183|834184|834185|834186|834187|834188|834189|834190|834191|834192|834193|834194|834195|834196|834197|834198|834199|834200|834201|834202|834203|834204|834205|834206|834207|834208|834209|834210|834211|834212|834213|834214|834215|834216|834217|834218|834219|834220|834221|834222|834223|834224|834225|834226|834227|834228|834229|834230|834231|834232|834233|834234|834235|834236|834237|834238|834239|834240|834241|834242|834243|834244|834245|834246|834247|834248|834249|834250|834251|834252|834253|834254|834255|834256|834257|834258|834259|834260|834261|834262|834263|834264|834265|834266|834267|834268|834269|834270|834271|834272|834273|834274|834275|834276|834277|834278|834279|834280|834281|834282|834283|834284|834285|834286|834287|834288|834289|834290|834291|834292|834293|852118|919142|920253|925028|925029|925030|925031|925032|925033|925034|925035|925036|925037|925038|925039|925040|925041|925042|925043|925044|925045|925046|925047|925048|925049|925050|925051|925052|925053|925054|925055|925056|925057|925058|925059|925060|925061|925062|925063|925064|925065|925066|925067|925068|934109|934110|934111|934112|934113|934114|934115|934116|934117|934118|934119|934120|934121|934122|934123|934124|934125|934126|934127|934128|934129|934130|934131|934132|934133|934134|934135|934136|934137|934138|934139|934140|934141|934142|934143|934144|934145|934146|934147|934148|934149|934150|934151|934152|934153|934154|934155|934156|934157|934158|934159|934160|934161|940891|945859|945860|945861|945862|945863|945864|945865|945866|945867|945868|945869|945870|945871|945872|945873|945874|945875|945876|945877|945878|945879|945880|945881|945882|945883|945884|945885|945886|945887|945888|945889|945890|945891|945892|945893|945894|945895|945896|945897|945898|945899|945900|945901|945902|945903|945904|945905|945906|945907|945908|945909|945910|945911|945912|955305|955306|955307|955308|955309|955310|955311|955312|955313|955314|955315|955316|955317|955318|955319|955320|955321|955322|955323|955324|955325|955326|955327|955328|955329|955330|955331|955332|955333|955334|955335|955336|955337|955338|955339|955340|959878|980333", "text": "Limb-girdle muscular dystrophy, type 2Q" }, { - "baseId": "39132|858656|858657|919422|966063", + "upstreamId": "39132|858656|858657|919422|966063", "text": "Diarrhea 6" }, { - "baseId": "39134|39135|39136|39137|39138|39139|39140|48041|48042|214738|214739|590544|612173|679819|965954|965955", + "upstreamId": "39134|39135|39136|39137|39138|39139|39140|48041|48042|214738|214739|590544|612173|679819|965954|965955", "text": "Osteodysplastic primordial dwarfism, type 1" }, { - "baseId": "39134|214736|214737|214738|214739|214740|214741|624198|800990|858738", + "upstreamId": "39134|214736|214737|214738|214739|214740|214741|624198|800990|858738", "text": "Roifman syndrome" }, { - "baseId": "39134|39137|624198|679818|679819|920651|965912|965913", + "upstreamId": "39134|39137|624198|679818|679819|920651|965912|965913", "text": "Lowry-Wood syndrome" }, { - "baseId": "39141|175845|189894|482272|536836", + "upstreamId": "39141|175845|189894|482272|536836", "text": "Atrial fibrillation, familial, 12" }, { - "baseId": "39142|39143|39144|45807|45809|45810|45811|227249|227250|227251|432290|697847|818222|818223|918799|966064|966065|966066|966067", + "upstreamId": "39142|39143|39144|45807|45809|45810|45811|227249|227250|227251|432290|697847|818222|818223|918799|966064|966065|966066|966067", "text": "Primary hypertrophic osteoarthropathy, autosomal recessive 2" }, { - "baseId": "39147|39148|798687|962739|962834|971023", + "upstreamId": "39147|39148|798687|962739|962834|971023", "text": "Focal segmental glomerulosclerosis 6" }, { - "baseId": "39149|39150|257662|257666|271893|273139|338070|338078|347715|347716|351557|352519|352521|352522|413615|415113|470272|492261|534287|534315|534318|534445|534783|534784|534793|534796|571989|571990|573407|573408|574130|574132|575207|575268|649472|649473|649474|649475|649476|649477|649478|649479|649480|649481|649482|649483|649484|649485|649486|717431|729168|742882|742883|758079|758080|758081|773542|776817|792059|792060|849322|849323|849324|849325|849326|849327|849328|849329|849330|849331|849332|849333|849334|849335|852443|852938|920610|920611|929485|929486|929487|929488|939313|951470|951471|951472|959093|959094", + "upstreamId": "39149|39150|257662|257666|271893|273139|338070|338078|347715|347716|351557|352519|352521|352522|413615|415113|470272|492261|534287|534315|534318|534445|534783|534784|534793|534796|571989|571990|573407|573408|574130|574132|575207|575268|649472|649473|649474|649475|649476|649477|649478|649479|649480|649481|649482|649483|649484|649485|649486|717431|729168|742882|742883|758079|758080|758081|773542|776817|792059|792060|849322|849323|849324|849325|849326|849327|849328|849329|849330|849331|849332|849333|849334|849335|852443|852938|920610|920611|929485|929486|929487|929488|939313|951470|951471|951472|959093|959094", "text": "Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III" }, { - "baseId": "39152|325360|325362|325366|325368|335042|335043|335061|341495|341497|341503|341506|341511|342987|342989|342990|343010|343011|466454|466476|466705|480750|480751|480752|480753|480754|480755|480756|480757|480758|480759|480760|480761|530114|570197|570298|644687|693878|693881|843873|843874|875290|875291|875292|875293|875294|875295|875296|875297|875298|875299|875300|875301|875302|875303|875304|875305|876670|876671|927819|949404|960159", + "upstreamId": "39152|325360|325362|325366|325368|335042|335043|335061|341495|341497|341503|341506|341511|342987|342989|342990|343010|343011|466454|466476|466705|480750|480751|480752|480753|480754|480755|480756|480757|480758|480759|480760|480761|530114|570197|570298|644687|693878|693881|843873|843874|875290|875291|875292|875293|875294|875295|875296|875297|875298|875299|875300|875301|875302|875303|875304|875305|876670|876671|927819|949404|960159", "text": "Parkinson disease 17" }, { - "baseId": "39154|39155|39156|76582|76583|137961|137965|139277|168166|168191|168571|168573|168574|168575|168576|168577|168578|168579|195012|195333|204364|204426|207471|207472|239991|297027|297047|297083|298909|298925|298999|302177|303194|303203|303206|303222|303407|303412|303413|303415|303426|305359|305365|310161|310164|310165|310167|310287|310297|353807|370962|395470|395474|395480|395665|395847|396125|407046|424390|444096|444097|456781|456784|456786|457503|457508|522435|522437|522761|561400|561402|561681|566555|581883|624153|635876|635877|635878|635879|635880|635881|635882|651706|651779|683854|683855|683856|685209|686986|686987|686988|686992|686993|686994|686995|689859|692176|692177|692178|819849|821940|833308|833309|833310|924746|924747|924748|924749|933760|933761|945514|955088|955089|959842|964285|964286|977225", + "upstreamId": "39154|39155|39156|76582|76583|137961|137965|139277|168166|168191|168571|168573|168574|168575|168576|168577|168578|168579|195012|195333|204364|204426|207471|207472|239991|297027|297047|297083|298909|298925|298999|302177|303194|303203|303206|303222|303407|303412|303413|303415|303426|305359|305365|310161|310164|310165|310167|310287|310297|353807|370962|395470|395474|395480|395665|395847|396125|407046|424390|444096|444097|456781|456784|456786|457503|457508|522435|522437|522761|561400|561402|561681|566555|581883|624153|635876|635877|635878|635879|635880|635881|635882|651706|651779|683854|683855|683856|685209|686986|686987|686988|686992|686993|686994|686995|689859|692176|692177|692178|819849|821940|833308|833309|833310|924746|924747|924748|924749|933760|933761|945514|955088|955089|959842|964285|964286|977225", "text": "Weaver syndrome" }, { - "baseId": "39157|39159|94452|208780|360483|431926|550644|552228", + "upstreamId": "39157|39159|94452|208780|360483|431926|550644|552228", "text": "Mental retardation, autosomal dominant 15" }, { - "baseId": "39164|39165|39166|134580|134581|208435|243031|243032|243033|243034|243035|402636|402639|402691|402695|402698|402702|403170|403171|403233|467893|467900|468783|468785|468786|469228|469232|469235|469588|532147|532147|532149|532159|532159|532160|532163|532165|532245|532246|532249|532519|532520|532525|532535|536962|571840|572542|572545|574709|574710|574711|647082|647083|647084|647085|647086|647087|647088|647089|647090|647091|647092|647093|684742|684743|684745|684747|685441|688882|688885|688886|688887|688890|694251|741307|821180|846679|846680|846681|846682|846683|846684|846685|846686|846687|846688|846689|846690|846691|928659|938380|938381|938382|938383|950455|950456|950457|950458|958435|958436|958437", + "upstreamId": "39164|39165|39166|134580|134581|208435|243031|243032|243033|243034|243035|402636|402639|402691|402695|402698|402702|403170|403171|403233|467893|467900|468783|468785|468786|469228|469232|469235|469588|532147|532147|532149|532159|532159|532160|532163|532165|532245|532246|532249|532519|532520|532525|532535|536962|571840|572542|572545|574709|574710|574711|647082|647083|647084|647085|647086|647087|647088|647089|647090|647091|647092|647093|684742|684743|684745|684747|685441|688882|688885|688886|688887|688890|694251|741307|821180|846679|846680|846681|846682|846683|846684|846685|846686|846687|846688|846689|846690|846691|928659|938380|938381|938382|938383|950455|950456|950457|950458|958435|958436|958437", "text": "Atrioventricular septal defect 5" }, { - "baseId": "39166|532147|532159", + "upstreamId": "39166|532147|532159", "text": "Atrial septal defect 9" }, { - "baseId": "39167|39168|39169|39170|39171|39172|48443|165814|165815|208434|532147|532159", + "upstreamId": "39167|39168|39169|39170|39171|39172|48443|165814|165815|208434|532147|532159", "text": "Pancreatic agenesis and congenital heart disease" }, { - "baseId": "39169|50063|53432|165814|165815|195509|215772|215773|215774|263329|334576|354191|354192|354193|354194|354195|354196|805118|805119|980498|980499", + "upstreamId": "39169|50063|53432|165814|165815|195509|215772|215773|215774|263329|334576|354191|354192|354193|354194|354195|354196|805118|805119|980498|980499", "text": "Congenital diaphragmatic hernia" }, { - "baseId": "39186|39187|39188|39189|39190|39191|39192|135300|135302|135303|135305|135306|135309|135310|206827|206828|206832|249981|280777|280784|280785|280786|281284|281288|281302|281305|281311|282556|282564|282574|282575|282576|282836|282840|427846|427848|438966|620005|626110|690638|690639|732501|732502|864566|864567|864568|864569|864570|864571|864572|864573|864574|864575|864576|864577|864578|864579|864580|864581|865191|865192|865193", + "upstreamId": "39186|39187|39188|39189|39190|39191|39192|135300|135302|135303|135305|135306|135309|135310|206827|206828|206832|249981|280777|280784|280785|280786|281284|281288|281302|281305|281311|282556|282564|282574|282575|282576|282836|282840|427846|427848|438966|620005|626110|690638|690639|732501|732502|864566|864567|864568|864569|864570|864571|864572|864573|864574|864575|864576|864577|864578|864579|864580|864581|865191|865192|865193", "text": "Meier-Gorlin syndrome 1" }, { - "baseId": "39188|39455|200397|200398|200399|255744|255745|282855|325397|325398|325421|325423|328352|335066|335068|335070|338247|341513|341519|343011|343036|343038|345786|345796", + "upstreamId": "39188|39455|200397|200398|200399|255744|255745|282855|325397|325398|325421|325423|328352|335066|335068|335070|338247|341513|341519|343011|343036|343038|345786|345796", "text": "Meier-Gorlin syndrome" }, { - "baseId": "39194|204389|205762|205762|424598|424599|441330|459438|459443|459444|459535|459999|460001|524527|524830|524937|524939|525087|525090|563212|563214|563216|563927|563941|565878|565882|565883|569005|569006|638210|638211|638212|638213|638214|638215|692663|700985|836071|836072|836073|836074|836075|861360|861361|925566|925567|934741|934742|934743|934744|934745|946597|946598", + "upstreamId": "39194|204389|205762|205762|424598|424599|441330|459438|459443|459444|459535|459999|460001|524527|524830|524937|524939|525087|525090|563212|563214|563216|563927|563941|565878|565882|565883|569005|569006|638210|638211|638212|638213|638214|638215|692663|700985|836071|836072|836073|836074|836075|861360|861361|925566|925567|934741|934742|934743|934744|934745|946597|946598", "text": "Amyotrophic lateral sclerosis 16, juvenile" }, { - "baseId": "39195|39196|39197|39198", + "upstreamId": "39195|39196|39197|39198", "text": "Leukonychia totalis" }, { - "baseId": "39201|39202|101161|176926|278587|278600|278702|279897|279915|279928|280001|364608|364610|498201|498279|513502|515415|556500|556770|576081|576082|627318|780459|823274|921815|939793", + "upstreamId": "39201|39202|101161|176926|278587|278600|278702|279897|279915|279928|280001|364608|364610|498201|498279|513502|515415|556500|556770|576081|576082|627318|780459|823274|921815|939793", "text": "Congenital disorder of glycosylation type Ir" }, { - "baseId": "39203|39204|39205|39206|106634|135505|310211|310212|310213|310222|310224|310226|310231|310232|310233|310239|310240|310244|310246|310247|310249|310252|310254|310255|310263|310268|315308|315311|315326|315329|315339|315340|315341|315347|315351|315353|315354|315370|315371|315389|321307|321318|321320|321331|321345|321347|321348|321349|321351|321353|321356|321359|321360|321367|321976|321977|321985|321986|321992|321997|322007|322008|322009|322014|322015|322023|322024|322025|322028|322045|322053|322062|865825|865826|865827|865828|865829|865830|865831|865832|865833|865834|865835|865836|865837|865838|865839|865840|865841|865842|865843|865844|865845|865846|865847|865848|865849|865850|865851|865852|865853|865854|865855|865856|865857|865858|865859|865860|865861|865862", + "upstreamId": "39203|39204|39205|39206|106634|135505|310211|310212|310213|310222|310224|310226|310231|310232|310233|310239|310240|310244|310246|310247|310249|310252|310254|310255|310263|310268|315308|315311|315326|315329|315339|315340|315341|315347|315351|315353|315354|315370|315371|315389|321307|321318|321320|321331|321345|321347|321348|321349|321351|321353|321356|321359|321360|321367|321976|321977|321985|321986|321992|321997|322007|322008|322009|322014|322015|322023|322024|322025|322028|322045|322053|322062|865825|865826|865827|865828|865829|865830|865831|865832|865833|865834|865835|865836|865837|865838|865839|865840|865841|865842|865843|865844|865845|865846|865847|865848|865849|865850|865851|865852|865853|865854|865855|865856|865857|865858|865859|865860|865861|865862", "text": "Warburg micro syndrome 3" }, { - "baseId": "39212", + "upstreamId": "39212", "text": "Systemic lupus erythematosus 16" }, { - "baseId": "39217|49801|49802|49803|252067|257118|257121|257122|257125|257126|269520|271078|273929|301328|301329|301331|305700|305708|305860|343596|343598|343599|348872|348886|348887|348888|348892|348894|348895|349840|349841|349842|353742|377467|446129|489138|490564|493096|506734|584444|625969|716437|728175|757014|772687|800135|882012|882013|882014|882015|882016|882017|882018|882019|882020|882021|882022|882023|882024|882025|882026|882027|882028|882029|882030|882031|882032|882033|882034|882035|882036|882037|882886|882887|882888", + "upstreamId": "39217|49801|49802|49803|252067|257118|257121|257122|257125|257126|269520|271078|273929|301328|301329|301331|305700|305708|305860|343596|343598|343599|348872|348886|348887|348888|348892|348894|348895|349840|349841|349842|353742|377467|446129|489138|490564|493096|506734|584444|625969|716437|728175|757014|772687|800135|882012|882013|882014|882015|882016|882017|882018|882019|882020|882021|882022|882023|882024|882025|882026|882027|882028|882029|882030|882031|882032|882033|882034|882035|882036|882037|882886|882887|882888", "text": "Non-syndromic syndactyly" }, { - "baseId": "39217|78958|78961|152875|177134|177265|177836|177837|191437|193722|193723|194518|195432|195757|254019|254020|272280|312754|312755|312766|312770|312778|312779|312783|312784|312788|312789|312795|312796|312801|312802|312808|318744|318758|318775|318784|318788|318798|318815|318817|318818|318820|318822|318823|324842|324846|324848|324853|324854|324870|324871|324872|324877|324894|324897|324912|324913|324914|324926|324932|325705|325706|325708|325719|325734|325737|325745|325753|325754|325763|325768|325769|325770|325774|325780|325782|360814|625969|858508|858509", + "upstreamId": "39217|78958|78961|152875|177134|177265|177836|177837|191437|193722|193723|194518|195432|195757|254019|254020|272280|312754|312755|312766|312770|312778|312779|312783|312784|312788|312789|312795|312796|312801|312802|312808|318744|318758|318775|318784|318788|318798|318815|318817|318818|318820|318822|318823|324842|324846|324848|324853|324854|324870|324871|324872|324877|324894|324897|324912|324913|324914|324926|324932|325705|325706|325708|325719|325734|325737|325745|325753|325754|325763|325768|325769|325770|325774|325780|325782|360814|625969|858508|858509", "text": "Retinal degeneration" }, { - "baseId": "39222|246905|389450|389462|448986|449163|449256|449283|449286|516692|516730|516732|516736|516838|516847|516851|559396|559398|629012|629013|629014|629015|650788|707859|732950|732951|732954|732955|746956|746958|762429|762430|780964|780965|780969|825238|825239|825240|825241|825242|825243|825244|825245|825246|922415|922416|922417|942415|942416|942417|942418|942419|942420|952789|952790|952791|952792|952793|952794|961928|964756", + "upstreamId": "39222|246905|389450|389462|448986|449163|449256|449283|449286|516692|516730|516732|516736|516838|516847|516851|559396|559398|629012|629013|629014|629015|650788|707859|732950|732951|732954|732955|746956|746958|762429|762430|780964|780965|780969|825238|825239|825240|825241|825242|825243|825244|825245|825246|922415|922416|922417|942415|942416|942417|942418|942419|942420|952789|952790|952791|952792|952793|952794|961928|964756", "text": "Wiskott-Aldrich syndrome 2" }, { - "baseId": "39223", + "upstreamId": "39223", "text": "Infections, recurrent, associated with encephalopathy, hepatic dysfunction, and cardiovascular malformations" }, { - "baseId": "39225|167425|167426|167427|167432|332001|790610|790611|791448", + "upstreamId": "39225|167425|167426|167427|167432|332001|790610|790611|791448", "text": "Peeling skin syndrome 1" }, { - "baseId": "39226", + "upstreamId": "39226", "text": "Abnormal glycosylation (CDG IIa)" }, { - "baseId": "39227|134084|134085|134087|134088|208392|208394|328337|328340|328345|328348|338249|338257|338258|344355|344358|345780|345784|345791|345792|345798|429965|620587|877396|877397|877398|877399|877400|877401|877402|877403|880511|880512|880513", + "upstreamId": "39227|134084|134085|134087|134088|208392|208394|328337|328340|328345|328348|338249|338257|338258|344355|344358|345780|345784|345791|345792|345798|429965|620587|877396|877397|877398|877399|877400|877401|877402|877403|880511|880512|880513", "text": "Meier-Gorlin syndrome 5" }, { - "baseId": "39233|39941", + "upstreamId": "39233|39941", "text": "Usher syndrome type 2c, GPR98/PDZD digenic" }, { - "baseId": "39236", + "upstreamId": "39236", "text": "Retinal arterial macroaneurysm with supravascular pulmonic stenosis" }, { - "baseId": "39237|552223|919912", + "upstreamId": "39237|552223|919912", "text": "Mental retardation, autosomal dominant 11" }, { - "baseId": "39238|920098", + "upstreamId": "39238|920098", "text": "Mental retardation, autosomal dominant 10" }, { - "baseId": 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+ "upstreamId": 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"text": "Breast-ovarian cancer, familial 4" }, { - "baseId": "39248|39249|39250|206790|206793|227656|227657|227658|237025|257105|313744|427777|427778|427787|427794|442805|508769|513899|550581|552043|552044|612472|622861|677404|789958|789959|789960|800921|805073|906201|906379|918629|961500|964153|964154|964646|964993|970685|973016|974477|976642|977173|977174|980904", + "upstreamId": "39248|39249|39250|206790|206793|227656|227657|227658|237025|257105|313744|427777|427778|427787|427794|442805|508769|513899|550581|552043|552044|612472|622861|677404|789958|789959|789960|800921|805073|906201|906379|918629|961500|964153|964154|964646|964993|970685|973016|974477|976642|977173|977174|980904", "text": "Mental retardation, autosomal dominant 14" }, { - "baseId": "39250|40165|40166|40167|40168|40169|40170|40171|40172|40173|40174|207343|207352|207363|207365|207373|207375|207380|207381|207382|207384|207385|207388|225865|225886|262265|264206|264289|275248|360874|361185|361264|415033|424483|424649|428558|428560|428563|428569|428570|428571|428577|431909|431910|431911|431912|431913|432263|443919|443928|444460|481337|481338|481755|495270|511635|511636|514851|552097|552098|552099|552100|552101|552102|552103|552396|575513|576349|579236|583100|611392|611465|612443|613853|614090|620936|622884|623652|623653|624152|625798|653872|653873|654127|677422|677423|678939|682803|682804|788794|788795|790602|790603|790604|790605|798571|816018|816458|906344|919006|919007|919008|919009|919010|919011|919012|919013|919014|920224|920225|961223|962916|963195|964267|964268|964269|964717|964825|969749|969779|970011|970826|970827|970828|972718|976652|980584|980921", + "upstreamId": "39250|40165|40166|40167|40168|40169|40170|40171|40172|40173|40174|207343|207352|207363|207365|207373|207375|207380|207381|207382|207384|207385|207388|225865|225886|262265|264206|264289|275248|360874|361185|361264|415033|424483|424649|428558|428560|428563|428569|428570|428571|428577|431909|431910|431911|431912|431913|432263|443919|443928|444460|481337|481338|481755|495270|511635|511636|514851|552097|552098|552099|552100|552101|552102|552103|552396|575513|576349|579236|583100|611392|611465|612443|613853|614090|620936|622884|623652|623653|624152|625798|653872|653873|654127|677422|677423|678939|682803|682804|788794|788795|790602|790603|790604|790605|798571|816018|816458|906344|919006|919007|919008|919009|919010|919011|919012|919013|919014|920224|920225|961223|962916|963195|964267|964268|964269|964717|964825|969749|969779|970011|970826|970827|970828|972718|976652|980584|980921", "text": "Coffin-Siris syndrome 1" }, { - "baseId": "39251|39252|39253|168038|168039|206853|227220", + "upstreamId": "39251|39252|39253|168038|168039|206853|227220", "text": "Meier-Gorlin syndrome 2" }, { - "baseId": 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"text": "Tumor susceptibility linked to germline BAP1 mutations" }, { - "baseId": "39262|39263|39264|39265|39266|39267|39268|39269|39270|39271|142915|142916|142917|142918|142919|142920|178706|210262|210266|258935|258940|258946|258947|263525|323138|323151|323155|323166|323169|323180|323196|323200|332772|332774|332776|332781|332783|332785|332802|332835|332843|332846|332854|332858|332862|339727|339728|339738|339754|339760|339761|339769|339773|339777|341127|341137|341150|341159|341161|341164|341172|341196|360980|400464|401092|401108|415444|437987|464430|464449|465054|465074|465080|465241|465249|465256|465312|465324|465348|529004|529009|529404|529589|529590|529593|567222|567226|567229|567230|569054|569061|569566|569569|569570|569582|573480|573481|573487|573490|614165|682307|682308|682309|682310|682311|682312|688474|688477|791479|799816|822307|874018|874019|874021|874024|874025|874026|874027|874028|874029|874031|874032|874033|874034|874038|919592|964424|971027|981927", + "upstreamId": 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"39272|227659|402429|550629|653822", "text": "Coffin-Siris syndrome 5" }, { - "baseId": 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+ "upstreamId": "39272|45820|70490|70491|70492|70493|139022|139024|208396|233842|242736|242737|242738|242739|242740|242741|242742|242743|242744|242745|242746|359974|397335|401901|401903|401904|401906|401908|401914|401956|401961|401970|401971|401977|401981|401982|401985|401990|402423|402428|402429|402429|402433|402437|402438|402611|407985|460522|466771|466773|466776|466777|466780|466784|466786|466787|466796|466800|466803|467649|467650|467655|467658|467826|467830|467834|467840|467850|468011|468015|468017|468018|468021|468024|468027|468030|468036|470130|475248|478501|478514|478520|478533|478631|512279|525742|530977|530978|530979|530983|530984|530986|530987|530990|530992|531106|531109|531111|531114|531117|531120|531190|531199|531202|531206|531207|531209|531470|531477|531478|531489|534181|534181|569025|569026|569028|569030|569034|571095|571098|574062|574080|574451|575807|626284|639262|645834|645835|645836|645837|645838|645839|645840|645841|645842|645843|645844|645845|645846|645847|645848|645849|645850|645851|652942|653109|653269|688762|688764|694081|694082|694083|694084|695742|704123|715429|727153|755821|760425|771474|799619|813598|813602|813604|813606|813608|813609|813610|813612|813613|813616|813624|813629|813633|813635|821041|845270|845271|845272|845273|845274|845275|845276|845277|845278|845279|845280|845281|845282|845283|845284|845285|845286|845287|845288|845289|845290|845291|845292|845293|845294|852740|919252|919726|919954|920425|920426|928242|928243|928244|928245|928246|928247|928248|937905|937906|937907|937908|937909|937910|937911|937912|937913|937914|937915|940410|940411|949897|949898|949899|949900|949901|949902|949903|949904|949905|958098|958099|958100|958101|960216|960217", "text": "Meningioma, familial" }, { - "baseId": "39279|106392|106393|106394|106395|106396|106397|250580|250581|250582|284888|284890|284891|284895|284901|284908|284917|284918|284919|284927|284929|284931|284932|284933|284937|284944|284950|285544|285564|285572|285574|285576|285577|285578|285579|285590|285593|285595|285598|285604|285612|287888|287890|287895|287908|287920|287924|287926|287927|287930|287931|287932|287934|288135|288136|288137|288146|288149|288151|288169|288184|288186|288198|288199|288204|288206|883893|883894|883895|883896|883897|883898|883899|883900|883901|883902|883903|883904|883905|883906|883907|883908|883909|883910|883911|883912|883913|883914|883915|883916|883917|883918|883919|883920|883921|883922|883923|883924|883925|883926|883927|883928|883929|883930|883931|883932|883933|883934|883935|883936|883937|883938|883939|883940|883941|887282|887283|963123|964195", + "upstreamId": "39279|106392|106393|106394|106395|106396|106397|250580|250581|250582|284888|284890|284891|284895|284901|284908|284917|284918|284919|284927|284929|284931|284932|284933|284937|284944|284950|285544|285564|285572|285574|285576|285577|285578|285579|285590|285593|285595|285598|285604|285612|287888|287890|287895|287908|287920|287924|287926|287927|287930|287931|287932|287934|288135|288136|288137|288146|288149|288151|288169|288184|288186|288198|288199|288204|288206|883893|883894|883895|883896|883897|883898|883899|883900|883901|883902|883903|883904|883905|883906|883907|883908|883909|883910|883911|883912|883913|883914|883915|883916|883917|883918|883919|883920|883921|883922|883923|883924|883925|883926|883927|883928|883929|883930|883931|883932|883933|883934|883935|883936|883937|883938|883939|883940|883941|887282|887283|963123|964195", "text": "Pseudohypoaldosteronism type 2E" }, { - "baseId": "39279|39473|39474|39475|39476|39477|39478|39479|39480|106392|106393|106394|106395|106396|106397|106398|106399|106400|106401|106402|106403|106404|106405|106406|106407|106408|106409|106410|106411|106413|106414|106415|106416|106417|106418|106421|106422|106425|106427|192995|260864|318655|318659|318675|318687|326790|326934|328531|328556|332884|332972|333031|333048|333051|333068|333083|333105|334543|334549|334732|334798|334799|334803|334807|334811|334818|334825", + "upstreamId": "39279|39473|39474|39475|39476|39477|39478|39479|39480|106392|106393|106394|106395|106396|106397|106398|106399|106400|106401|106402|106403|106404|106405|106406|106407|106408|106409|106410|106411|106413|106414|106415|106416|106417|106418|106421|106422|106425|106427|192995|260864|318655|318659|318675|318687|326790|326934|328531|328556|332884|332972|333031|333048|333051|333068|333083|333105|334543|334549|334732|334798|334799|334803|334807|334811|334818|334825", "text": "Pseudohypoaldosteronism type 2A" }, { - "baseId": "39280|39281|39282|343796|343800|343804|349089|350013|350016|380145|539093|621872|648173|882150|882151|882152|882153|882154|882909|882910|882911", + "upstreamId": "39280|39281|39282|343796|343800|343804|349089|350013|350016|380145|539093|621872|648173|882150|882151|882152|882153|882154|882909|882910|882911", "text": "Hereditary spastic paraplegia 12" }, { - "baseId": "39287|39288|188958|213535|226702|285325|285340|285341|285358|285360|285368|285369|285973|285974|285978|285992|285996|285997|286004|286005|286006|288312|288315|288317|288318|288339|288340|288342|288343|288739|288740|288741|288759|288767|884168|884169|884170|884171|884172|884173|884174|884175|884176|884177|884178|884179|884180|884181|884182|884183|884184|884185|884186|884187|884188|905049|966579|966580|966581", + "upstreamId": "39287|39288|188958|213535|226702|285325|285340|285341|285358|285360|285368|285369|285973|285974|285978|285992|285996|285997|286004|286005|286006|288312|288315|288317|288318|288339|288340|288342|288343|288739|288740|288741|288759|288767|884168|884169|884170|884171|884172|884173|884174|884175|884176|884177|884178|884179|884180|884181|884182|884183|884184|884185|884186|884187|884188|905049|966579|966580|966581", "text": "Leber congenital amaurosis 16" }, { - "baseId": "39289|39290|39291|39292|538452|791580|791581|980372", + "upstreamId": "39289|39290|39291|39292|538452|791580|791581|980372", "text": "Spondyloepimetaphyseal dysplasia with joint laxity, type 2" }, { - "baseId": "39298|39299|39300|39301|39302|39303|131893|208522|208522|208527|208529|243129|243191|243228|243251|390651|402865|402923|403125|403126|403448|410423|410427|430124|446024|468417|469136|469558|469573|469702|479479|479496|479504|533038|572136|611429|613500|647559|647574|647611|677460|798740|970550", + "upstreamId": "39298|39299|39300|39301|39302|39303|131893|208522|208522|208527|208529|243129|243191|243228|243251|390651|402865|402923|403125|403126|403448|410423|410427|430124|446024|468417|469136|469558|469573|469702|479479|479496|479504|533038|572136|611429|613500|647559|647574|647611|677460|798740|970550", "text": "Mental retardation, autosomal dominant 16" }, { - "baseId": "39305|492928", + "upstreamId": "39305|492928", "text": "Hypogonadotropic hypogonadism 13 with or without anosmia" }, { - "baseId": "39307|39308|39309|195974|205769|320695|490260|492179|552151|896571", + "upstreamId": "39307|39308|39309|195974|205769|320695|490260|492179|552151|896571", "text": "Peroxisome biogenesis disorder 8B" }, { - "baseId": "39311|39312|491077|790769|815955|815957|980928", + "upstreamId": "39311|39312|491077|790769|815955|815957|980928", "text": "Nail disorder, nonsyndromic congenital, 1" }, { - "baseId": "39311|39312", + "upstreamId": "39311|39312", "text": "Nail disease" }, { - "baseId": "39313|39314|39316|99992|135702|135704|135705|135706|135707|135709|135711|135714|135716|142779|167457|167458|178055|178058|178059|191022|191370|192649|231501|250347|272066|273736|282546|282559|282565|282569|282570|282573|282582|282586|282594|282598|282599|282600|282604|283199|283202|283206|283209|283226|283227|283243|283257|283258|283259|283267|283293|283307|283310|283311|283322|283323|283334|283354|283355|283356|283357|284810|284812|284826|284836|284837|284838|284841|284842|284849|284866|284868|284873|284879|284887|285259|285268|285269|285288|285292|285295|285305|285321|285322|285329|285332|285355|285356|285357|285359|285361|285362|285364|285365|285367|285388|285390|285402|285406", + "upstreamId": "39313|39314|39316|99992|135702|135704|135705|135706|135707|135709|135711|135714|135716|142779|167457|167458|178055|178058|178059|191022|191370|192649|231501|250347|272066|273736|282546|282559|282565|282569|282570|282573|282582|282586|282594|282598|282599|282600|282604|283199|283202|283206|283209|283226|283227|283243|283257|283258|283259|283267|283293|283307|283310|283311|283322|283323|283334|283354|283355|283356|283357|284810|284812|284826|284836|284837|284838|284841|284842|284849|284866|284868|284873|284879|284887|285259|285268|285269|285288|285292|285295|285305|285321|285322|285329|285332|285355|285356|285357|285359|285361|285362|285364|285365|285367|285388|285390|285402|285406", "text": "Small fiber neuropathy" }, { - "baseId": "39317|359095|359096|359097", + "upstreamId": "39317|359095|359096|359097", "text": "Mental retardation, autosomal recessive 34" }, { - "baseId": "39329|172080|244154|576110|581710", + "upstreamId": "39329|172080|244154|576110|581710", "text": "Hypomyelinating leukodystrophy 3" }, { - "baseId": "39330|192389|192390|195682|195683|255331|255332|255333|268403|270751|271809|323079|323080|323081|323086|323088|323089|323090|323100|323102|323105|332704|332707|332711|332716|332718|332720|332723|332728|332735|332745|332750|339695|339696|339698|339699|339700|339701|339702|339703|339709|339711|341070|341072|341074|341076|341078|341079|341080|341081|341083|341087|341088|341089|341090|341094|341095|341096|341097|482298|482299|482300|482301|551579|620525|726210|873980|873981|873982|873983|873984|873985|873986|873987|873988|873989|873990|873991|873992|873993|873994|873995|873996|873997|873998|873999|874000|874001|874002|874003|874004|874005|874006|874007|874008|874009|874010|874011|874012|874013|874014|874015|874016|874017|876553|876554|876555|876556|876557|876558|876559", + "upstreamId": "39330|192389|192390|195682|195683|255331|255332|255333|268403|270751|271809|323079|323080|323081|323086|323088|323089|323090|323100|323102|323105|332704|332707|332711|332716|332718|332720|332723|332728|332735|332745|332750|339695|339696|339698|339699|339700|339701|339702|339703|339709|339711|341070|341072|341074|341076|341078|341079|341080|341081|341083|341087|341088|341089|341090|341094|341095|341096|341097|482298|482299|482300|482301|551579|620525|726210|873980|873981|873982|873983|873984|873985|873986|873987|873988|873989|873990|873991|873992|873993|873994|873995|873996|873997|873998|873999|874000|874001|874002|874003|874004|874005|874006|874007|874008|874009|874010|874011|874012|874013|874014|874015|874016|874017|876553|876554|876555|876556|876557|876558|876559", "text": "Congenital stationary night blindness, type 1D" }, { - "baseId": "39331|451486|451491|451492|451497|451499|451752|451836|451945|451946|518652|518677|518750|518758|518759|518848|518851|518857|558692|559203|560997|560999|561001|561002|562100|562118|624249|630614|630615|630616|630617|630618|630619|630620|630621|630622|630623|630624|630625|630626|630627|630628|651011|651017|651097|708410|708411|708412|708413|720005|720008|733625|733626|733627|743971|743980|747813|759288|759293|763456|763458|763461|819282|819283|827106|827107|827108|827109|827110|827111|827112|827113|827114|827115|827116|827117|827118|827119|827120|827121|827122|827123|827124|827125|827126|851442|851444|922946|922947|922948|922949|922950|931616|931617|931618|943149|943150|943151|943152|943153|943154|960492", + "upstreamId": "39331|451486|451491|451492|451497|451499|451752|451836|451945|451946|518652|518677|518750|518758|518759|518848|518851|518857|558692|559203|560997|560999|561001|561002|562100|562118|624249|630614|630615|630616|630617|630618|630619|630620|630621|630622|630623|630624|630625|630626|630627|630628|651011|651017|651097|708410|708411|708412|708413|720005|720008|733625|733626|733627|743971|743980|747813|759288|759293|763456|763458|763461|819282|819283|827106|827107|827108|827109|827110|827111|827112|827113|827114|827115|827116|827117|827118|827119|827120|827121|827122|827123|827124|827125|827126|851442|851444|922946|922947|922948|922949|922950|931616|931617|931618|943149|943150|943151|943152|943153|943154|960492", "text": "Inflammatory skin and bowel disease, neonatal 1" }, { - "baseId": "39332|39333|39335|39336|672352|672353|672354|672355", + "upstreamId": "39332|39333|39335|39336|672352|672353|672354|672355", "text": "Congenital cataracts, hearing loss, and neurodegeneration" }, { - "baseId": "39340|39341|39342|39343|39344|39345|39346", + "upstreamId": "39340|39341|39342|39343|39344|39345|39346", "text": "Blood group, Junior system" }, { - "baseId": "39342|39343|39346", + "upstreamId": "39342|39343|39346", "text": "Uric acid concentration, serum, quantitative trait locus 1" }, { - "baseId": "39346", + "upstreamId": "39346", "text": "rosuvastatin response - Efficacy" }, { - "baseId": "39346", + "upstreamId": "39346", "text": "allopurinol response - Dosage, Efficacy" }, { - "baseId": "39346|135788|678115", + "upstreamId": "39346|135788|678115", "text": "Gemcitabine response" }, { - "baseId": "39347|314624|314628|314629|314633|314635|314640|314647|314650|314653|314658|321328|321330|321335|321336|321341|327481|327485|327486|328520|328523|328529|713049|868286|868287|868288|868289|868672", + "upstreamId": "39347|314624|314628|314629|314633|314635|314640|314647|314650|314653|314658|321328|321330|321335|321336|321341|327481|327485|327486|328520|328523|328529|713049|868286|868287|868288|868289|868672", "text": "Nestor-Guillermo progeria syndrome" }, { - "baseId": "39348|211645|578641|791236|905867", + "upstreamId": "39348|211645|578641|791236|905867", "text": "Mitochondrial complex 1 deficiency, nuclear type 26" }, { - "baseId": "39349|39350|359099|359100|620073", + "upstreamId": "39349|39350|359099|359100|620073", "text": "Mitochondrial complex 1 deficiency, nuclear type 22" }, { - "baseId": "39357|39358|39359|39360|39361|40319|48561|48562|134419|134420|134421|199808|208399|208400|213646|375142|415565|424666|429977|481240|513468|552204|677984|682841|791782|800835|917750|919733|919734|920373|961642|966002|966003|966004|966043|971081|971082|973043", + "upstreamId": "39357|39358|39359|39360|39361|40319|48561|48562|134419|134420|134421|199808|208399|208400|213646|375142|415565|424666|429977|481240|513468|552204|677984|682841|791782|800835|917750|919733|919734|920373|961642|966002|966003|966004|966043|971081|971082|973043", "text": "Mandibulofacial dysostosis-microcephaly syndrome" }, { - "baseId": "39363|141192|190439|205537|208401|344974|346298|685435", + "upstreamId": "39363|141192|190439|205537|208401|344974|346298|685435", "text": "Epilepsy, progressive myoclonic 6" }, { - "baseId": "39365|132702|135547", + "upstreamId": "39365|132702|135547", "text": "Seckel syndrome 2" }, { - "baseId": "39366|330837|347942|919789", + "upstreamId": "39366|330837|347942|919789", "text": "Microcephaly with mental retardation and digital anomalies" }, { - "baseId": "39367|39367|39368|187689|191369|191537|194164|194191|196235|207865|265791|266013|267194|270150|270796|270975|272453|272457|274999|314218|314221|314230|314232|314240|314249|320780|320783|320790|320821|320837|320852|320855|326846|326853|326855|326859|326875|326887|326891|327795|327798|327800|327817|327830|327858|327869|360043|371427|429241|444807|461121|461131|461137|461332|461333|461623|461624|461625|461626|461627|461630|461932|461939|461943|461953|488690|488691|488694|526218|526223|526224|526226|526227|526228|526409|526415|526429|526434|526706|526708|526713|526719|564646|564647|564651|564654|564655|564662|564669|564671|565803|565805|567275|567276|567280|567282|570669|570670|570671|570673|640069|640070|640071|640072|640073|640074|640075|640076|640077|640078|640079|640080|640081|640082|640083|640084|640085|640086|640087|640088|640089|640090|652547|693032|693033|693034|693037|693039|693040|693042|693043|693044|693045|695516|695518|701776|701777|701778|701780|712847|712848|712849|724460|724462|724464|752689|768468|784012|796596|838472|838473|838474|838475|838476|838477|838478|838479|838480|838481|838482|838483|838484|838485|838486|852613|926251|926252|926253|926254|926255|935567|935568|935569|935570|935571|935572|935573|935574|935575|935576|940214|940998|947480|947481|947482|947483|956513|956514|956515|959990", + "upstreamId": "39367|39367|39368|187689|191369|191537|194164|194191|196235|207865|265791|266013|267194|270150|270796|270975|272453|272457|274999|314218|314221|314230|314232|314240|314249|320780|320783|320790|320821|320837|320852|320855|326846|326853|326855|326859|326875|326887|326891|327795|327798|327800|327817|327830|327858|327869|360043|371427|429241|444807|461121|461131|461137|461332|461333|461623|461624|461625|461626|461627|461630|461932|461939|461943|461953|488690|488691|488694|526218|526223|526224|526226|526227|526228|526409|526415|526429|526434|526706|526708|526713|526719|564646|564647|564651|564654|564655|564662|564669|564671|565803|565805|567275|567276|567280|567282|570669|570670|570671|570673|640069|640070|640071|640072|640073|640074|640075|640076|640077|640078|640079|640080|640081|640082|640083|640084|640085|640086|640087|640088|640089|640090|652547|693032|693033|693034|693037|693039|693040|693042|693043|693044|693045|695516|695518|701776|701777|701778|701780|712847|712848|712849|724460|724462|724464|752689|768468|784012|796596|838472|838473|838474|838475|838476|838477|838478|838479|838480|838481|838482|838483|838484|838485|838486|852613|926251|926252|926253|926254|926255|935567|935568|935569|935570|935571|935572|935573|935574|935575|935576|940214|940998|947480|947481|947482|947483|956513|956514|956515|959990", "text": "Sclerosteosis 2" }, { - "baseId": "39367|187688|187689|187689|191369|191537|194164|194191|196235|207865|265791|266013|267194|270150|270796|270975|272453|272457|274999|314218|314221|314230|314232|314240|314249|320780|320783|320790|320821|320837|320852|320855|326846|326853|326855|326859|326875|326887|326891|327795|327798|327800|327817|327830|327858|327869|360043|371427|429241|444807|461121|461131|461137|461332|461333|461623|461624|461625|461626|461627|461630|461932|461939|461943|461953|488690|488691|488694|526218|526223|526224|526226|526227|526228|526409|526415|526429|526434|526706|526708|526713|526719|564646|564647|564651|564654|564655|564662|564669|564671|565803|565805|567275|567276|567280|567282|570669|570670|570671|570673|626206|640069|640070|640071|640072|640073|640074|640075|640076|640077|640078|640079|640080|640081|640082|640083|640084|640085|640086|640087|640088|640089|640090|652547|693032|693033|693034|693037|693039|693040|693042|693043|693044|693045|695516|695518|701776|701777|701778|701780|712847|712848|712849|724460|724462|724464|752689|768468|784012|796596|838472|838473|838474|838475|838476|838477|838478|838479|838480|838481|838482|838483|838484|838485|838486|852613|926251|926252|926253|926254|926255|935567|935568|935569|935570|935571|935572|935573|935574|935575|935576|940214|940998|947480|947481|947482|947483|956513|956514|956515|959990", + "upstreamId": "39367|187688|187689|187689|191369|191537|194164|194191|196235|207865|265791|266013|267194|270150|270796|270975|272453|272457|274999|314218|314221|314230|314232|314240|314249|320780|320783|320790|320821|320837|320852|320855|326846|326853|326855|326859|326875|326887|326891|327795|327798|327800|327817|327830|327858|327869|360043|371427|429241|444807|461121|461131|461137|461332|461333|461623|461624|461625|461626|461627|461630|461932|461939|461943|461953|488690|488691|488694|526218|526223|526224|526226|526227|526228|526409|526415|526429|526434|526706|526708|526713|526719|564646|564647|564651|564654|564655|564662|564669|564671|565803|565805|567275|567276|567280|567282|570669|570670|570671|570673|626206|640069|640070|640071|640072|640073|640074|640075|640076|640077|640078|640079|640080|640081|640082|640083|640084|640085|640086|640087|640088|640089|640090|652547|693032|693033|693034|693037|693039|693040|693042|693043|693044|693045|695516|695518|701776|701777|701778|701780|712847|712848|712849|724460|724462|724464|752689|768468|784012|796596|838472|838473|838474|838475|838476|838477|838478|838479|838480|838481|838482|838483|838484|838485|838486|852613|926251|926252|926253|926254|926255|935567|935568|935569|935570|935571|935572|935573|935574|935575|935576|940214|940998|947480|947481|947482|947483|956513|956514|956515|959990", "text": "Myasthenic syndrome, congenital, 17" }, { - "baseId": "39369|322652|429675|512944|567103|569423|643288|643289|643290|643291|643292|643293|643294|726111|754490|815879|815880|842427|842428|927343|927344|948911|960822", + "upstreamId": "39369|322652|429675|512944|567103|569423|643288|643289|643290|643291|643292|643293|643294|726111|754490|815879|815880|842427|842428|927343|927344|948911|960822", "text": "Hermansky-Pudlak syndrome 9" }, { - "baseId": "39370|39371|39372|135015|135016|135017|135018|135019|135020|135021|135022|135023|135024|135025|135026|135027|199791|207661|207663|207664|207665|207666|207667|207669|207671|207672|207673|307698|307706|307708|307709|307711|307712|311945|311956|311958|311961|311962|311963|311964|311967|311970|317545|317547|317558|317563|317565|317566|317573|317576|317577|317579|317593|317599|317604|317611|317615|318053|318069|318071|318073|318074|318075|318079|318081|318082|318085|318087|318089|318092|318096|318098|428958|428961|428964|428966|428967|438578|438957|459360|486814|511822|524425|524429|524721|524724|565808|579585|579630|579631|579646|579647|579652|579661|579817|579821|586585|620326|638105|711892|730625|751586|751589|777813|779313|783365|783366|790873|805616|835933|835934|901572|901573|901574|901575|901576|901577|901578|901579|901580|901581|901582|901583|901584|901585|901586|901587|901588|901589|901590|901591|901592|901593|901594|901595|903356|903357|903358|934682|946533|955772|971358|971361|971362|971363|971365|971366", + "upstreamId": "39370|39371|39372|135015|135016|135017|135018|135019|135020|135021|135022|135023|135024|135025|135026|135027|199791|207661|207663|207664|207665|207666|207667|207669|207671|207672|207673|307698|307706|307708|307709|307711|307712|311945|311956|311958|311961|311962|311963|311964|311967|311970|317545|317547|317558|317563|317565|317566|317573|317576|317577|317579|317593|317599|317604|317611|317615|318053|318069|318071|318073|318074|318075|318079|318081|318082|318085|318087|318089|318092|318096|318098|428958|428961|428964|428966|428967|438578|438957|459360|486814|511822|524425|524429|524721|524724|565808|579585|579630|579631|579646|579647|579652|579661|579817|579821|586585|620326|638105|711892|730625|751586|751589|777813|779313|783365|783366|790873|805616|835933|835934|901572|901573|901574|901575|901576|901577|901578|901579|901580|901581|901582|901583|901584|901585|901586|901587|901588|901589|901590|901591|901592|901593|901594|901595|903356|903357|903358|934682|946533|955772|971358|971361|971362|971363|971365|971366", "text": "Mental retardation, autosomal recessive 15" }, { - "baseId": "39372", + "upstreamId": "39372", "text": "MAN1B1-Related Disorders" }, { - "baseId": "39373|39374|39375|39376|134895|134897|134900|134901|134902|134906|134911|134913|134914|134916|134920|134923|191237|192120|192121|207620|264389|407563|421717|508834|538405|552132|552133|578473|796244|919192", + "upstreamId": "39373|39374|39375|39376|134895|134897|134900|134901|134902|134906|134911|134913|134914|134916|134920|134923|191237|192120|192121|207620|264389|407563|421717|508834|538405|552132|552133|578473|796244|919192", "text": "Cortical malformations, occipital" }, { - "baseId": "39384|172197|211841|211847|361845|537303|539078|961427|961428|961436", + "upstreamId": "39384|172197|211841|211847|361845|537303|539078|961427|961428|961436", "text": "Spastic ataxia 5, autosomal recessive" }, { - "baseId": "39391|39392|39393|361118", + "upstreamId": "39391|39392|39393|361118", "text": "Progressive external ophthalmoplegia" }, { - "baseId": "39394|39396|39444|39445|40587|247077|254467|254468|254469|254470|254471|254472|254473|316517|316522|316528|316532|316533|316535|316536|316537|316539|316545|316546|316566|316567|316577|316578|316587|316588|316593|316594|316599|316600|316604|316615|316616|316620|324045|324048|324053|324054|324055|324062|324066|324067|324068|324074|324078|324079|324080|324083|324092|324095|324098|324099|324100|324102|324104|324112|330011|330023|330039|330043|330044|330045|330050|330051|330055|330059|330061|330068|330070|330077|330084|330086|331377|331393|331394|331406|331407|331411|331423|331433|331438|331441|331442|331452|331454|331455|331457|331458|331465|331466|331467|331470|331471|331490|331506|331508|331512|331517|331518|331524|331528|433929|433930|609824|620432|620433|620434|620435|620436|620437|620842|620843|620844|620845|620846|725038|725039|738584|738585|738586|753295|799669|799674|869593|869594|869595|869596|869597|869598|869599|869600|869601|869602|869603|869604|869605|869606|869607|869608|869609|869610|869611|869612|869613|869614|869615|869616|869617|869618|869619|869620|869621|869622|869623|869624|869625|869626|869627|869628|869629|869630|869631|869632|869633|869634|869635|869636|869637|869638|869639|869640|869641|869642|869643|869644|869645|869646|872218|872219|872220|872221|872222|872223|872224|904186|965895|981776|981777|981778|981779|981780|981781|981782|981783|981784|981785|981786", + "upstreamId": "39394|39396|39444|39445|40587|247077|254467|254468|254469|254470|254471|254472|254473|316517|316522|316528|316532|316533|316535|316536|316537|316539|316545|316546|316566|316567|316577|316578|316587|316588|316593|316594|316599|316600|316604|316615|316616|316620|324045|324048|324053|324054|324055|324062|324066|324067|324068|324074|324078|324079|324080|324083|324092|324095|324098|324099|324100|324102|324104|324112|330011|330023|330039|330043|330044|330045|330050|330051|330055|330059|330061|330068|330070|330077|330084|330086|331377|331393|331394|331406|331407|331411|331423|331433|331438|331441|331442|331452|331454|331455|331457|331458|331465|331466|331467|331470|331471|331490|331506|331508|331512|331517|331518|331524|331528|433929|433930|609824|620432|620433|620434|620435|620436|620437|620842|620843|620844|620845|620846|725038|725039|738584|738585|738586|753295|799669|799674|869593|869594|869595|869596|869597|869598|869599|869600|869601|869602|869603|869604|869605|869606|869607|869608|869609|869610|869611|869612|869613|869614|869615|869616|869617|869618|869619|869620|869621|869622|869623|869624|869625|869626|869627|869628|869629|869630|869631|869632|869633|869634|869635|869636|869637|869638|869639|869640|869641|869642|869643|869644|869645|869646|872218|872219|872220|872221|872222|872223|872224|904186|965895|981776|981777|981778|981779|981780|981781|981782|981783|981784|981785|981786", "text": "Rotor syndrome" }, { - "baseId": "39399|140122|152910|152911|425669|430994|434605|538381|550601|611643|790588", + "upstreamId": "39399|140122|152910|152911|425669|430994|434605|538381|550601|611643|790588", "text": "Mental retardation, autosomal recessive 18" }, { - "baseId": "39402|576070|970948", + "upstreamId": "39402|576070|970948", "text": "Developmental and epileptic encephalopathy, 67" }, { - "baseId": "39404|39405", + "upstreamId": "39404|39405", "text": "Radiohumeral fusions with other skeletal and craniofacial anomalies" }, { - "baseId": "39406", + "upstreamId": "39406", "text": "Deafness, autosomal dominant 64" }, { - "baseId": "39407|39408|227268|799358", + "upstreamId": "39407|39408|227268|799358", "text": "Preeclampsia/eclampsia 5" }, { - "baseId": "39409|39410|39411|227203|439996|550576", + "upstreamId": "39409|39410|39411|227203|439996|550576", "text": "Familial acne inversa 1" }, { - "baseId": "39412|39413|39414|39415|101850|141305|141306|141307|141309|141310|141311|141312|141313|141314|186288|194483|198533|198536|198538|222854|259064|259066|410754|422320|446245|470900|497751|508934|512963|818345", + "upstreamId": "39412|39413|39414|39415|101850|141305|141306|141307|141309|141310|141311|141312|141313|141314|186288|194483|198533|198536|198538|222854|259064|259066|410754|422320|446245|470900|497751|508934|512963|818345", "text": "Familial hypertrophic cardiomyopathy 17" }, { - "baseId": "39422|240900|360879|361092|454614|462979|514048|514112|576328", + "upstreamId": "39422|240900|360879|361092|454614|462979|514048|514112|576328", "text": "Clinodactyly of the 5th finger" }, { - "baseId": "39434|39435|39436|39437|39438|214528|247410|247411", + "upstreamId": "39434|39435|39436|39437|39438|214528|247410|247411", "text": "Langereis blood group" }, { - "baseId": "39439|39440|79365|904247", + "upstreamId": "39439|39440|79365|904247", "text": "Microphthalmia, isolated, with coloboma 7" }, { - "baseId": 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+ "upstreamId": 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"text": "Immunodeficiency 51" }, { - "baseId": "39446|39447|39448|48518|48519|48520|84944|170217|170218|281597|281598|281600|281606|281607|281611|282255|282256|282258|282259|282260|282269|282270|282272|282274|282289|283590|283603|283604|283611|283612|283620|283621|283623|283631|283638|283639|283788|283791|283792|283793|283794|283795|283800|283804|283807|283819|283822|283825|283826|283851|353536|486247|516296|516298|516311|516323|516324|516327|516398|559182|612557|620734|628413|628414|628415|732719|743807|762160|762161|819043|824716|824717|824718|824719|850832|880862|880863|880864|880865|880866|880867|880868|880869|880870|880871|880872|880873|880874|880875|882783|930789|930790", + "upstreamId": "39446|39447|39448|48518|48519|48520|84944|170217|170218|281597|281598|281600|281606|281607|281611|282255|282256|282258|282259|282260|282269|282270|282272|282274|282289|283590|283603|283604|283611|283612|283620|283621|283623|283631|283638|283639|283788|283791|283792|283793|283794|283795|283800|283804|283807|283819|283822|283825|283826|283851|353536|486247|516296|516298|516311|516323|516324|516327|516398|559182|612557|620734|628413|628414|628415|732719|743807|762160|762161|819043|824716|824717|824718|824719|850832|880862|880863|880864|880865|880866|880867|880868|880869|880870|880871|880872|880873|880874|880875|882783|930789|930790", "text": "Pustular psoriasis, generalized" }, { - "baseId": "39451|39452|309029|426755|552107|552108", + "upstreamId": "39451|39452|309029|426755|552107|552108", "text": "Ichthyosis, spastic quadriplegia, and mental retardation" }, { - "baseId": "39455|39456|39457|39458|39459|134113|134129|134132|208308|429860|429864|434653|715196", + "upstreamId": "39455|39456|39457|39458|39459|134113|134129|134132|208308|429860|429864|434653|715196", "text": "Meier-Gorlin syndrome 4" }, { - "baseId": "39460|39461|39463|679353", + "upstreamId": "39460|39461|39463|679353", "text": "Platelet-type bleeding disorder 11" }, { - "baseId": "39465|39466|40446|40447|40448|54943|54945|54949|54952|142112|142113|209638|227266|229156|292142|508791|550864", + "upstreamId": "39465|39466|40446|40447|40448|54943|54945|54949|54952|142112|142113|209638|227266|229156|292142|508791|550864", "text": "Familial hypertrophic cardiomyopathy 16" }, { - "baseId": "39468|39469|39470|39471|188968|237238|257465|257466|257467|257468|257469|257470|336829|336830|336833|336835|336838|336839|336840|346486|346496|346497|346498|346499|346502|346503|346507|346509|346511|346520|350694|350699|350700|350703|350704|350707|350708|350711|350713|350716|350717|350720|350721|350724|350725|350726|350728|351762|351763|351765|351768|351770|351773|351774|351776|351777|351778|351779|351780|351782|351786|351789|351791|351795|552226|576315|717217|728918|731374|742648|742649|757824|757830|757832|757833|773354|805042|886798|886799|886800|886801|886802|886803|886804|886805|886806|886807|886808|886809|886810|886811|886812|886813|886814|886815|886816|886817|886818|886819|886820|886821|886822|886823|886824|886825|886826|886827|886828|886829|886830|886831|886832|886833|886834|886835|886836|886837|886838|886839|886840|886841|886842|887510|887511", + "upstreamId": "39468|39469|39470|39471|188968|237238|257465|257466|257467|257468|257469|257470|336829|336830|336833|336835|336838|336839|336840|346486|346496|346497|346498|346499|346502|346503|346507|346509|346511|346520|350694|350699|350700|350703|350704|350707|350708|350711|350713|350716|350717|350720|350721|350724|350725|350726|350728|351762|351763|351765|351768|351770|351773|351774|351776|351777|351778|351779|351780|351782|351786|351789|351791|351795|552226|576315|717217|728918|731374|742648|742649|757824|757830|757832|757833|773354|805042|886798|886799|886800|886801|886802|886803|886804|886805|886806|886807|886808|886809|886810|886811|886812|886813|886814|886815|886816|886817|886818|886819|886820|886821|886822|886823|886824|886825|886826|886827|886828|886829|886830|886831|886832|886833|886834|886835|886836|886837|886838|886839|886840|886841|886842|887510|887511", "text": "Bartsocas-Papas syndrome" }, { - "baseId": "39472|39473|39474|39475|39476|39477|39478|39479|39480|40222|40223|40224|214534|251701|251704|251708|295398|295409|295425|295426|295429|295430|295435|295438|295443|295445|295446|295453|295456|295461|295469|295470|297203|297204|297211|297212|297218|297231|297234|297235|297236|297242|297243|297244|297246|297249|297250|297257|297259|297260|301006|301017|301019|301021|301034|301035|301060|301067|301079|301082|301087|301091|301094|301097|301099|301103|301104|301107|301109|301124|301132|301158|301161|301170|301171|301173|301183|301185|301186|301187|301197|301215|301216|301226|301253|301264|622346|892965|892966|892967|892968|892969|892970|892971|892972|892973|892974|892975|892976|892977|892978|892979|892980|892981|892982|892983|892984|892985|892986|892987|892988|892989|892990|892991|892992|892994|892995|892996|892997|893001|893002|893005|893006|893011|893012|893013|896033|896034", + "upstreamId": "39472|39473|39474|39475|39476|39477|39478|39479|39480|40222|40223|40224|214534|251701|251704|251708|295398|295409|295425|295426|295429|295430|295435|295438|295443|295445|295446|295453|295456|295461|295469|295470|297203|297204|297211|297212|297218|297231|297234|297235|297236|297242|297243|297244|297246|297249|297250|297257|297259|297260|301006|301017|301019|301021|301034|301035|301060|301067|301079|301082|301087|301091|301094|301097|301099|301103|301104|301107|301109|301124|301132|301158|301161|301170|301171|301173|301183|301185|301186|301187|301197|301215|301216|301226|301253|301264|622346|892965|892966|892967|892968|892969|892970|892971|892972|892973|892974|892975|892976|892977|892978|892979|892980|892981|892982|892983|892984|892985|892986|892987|892988|892989|892990|892991|892992|892994|892995|892996|892997|893001|893002|893005|893006|893011|893012|893013|896033|896034", "text": "Pseudohypoaldosteronism type 2D" }, { - "baseId": "39482|39483|39484|39485|47604|47604|47605|59481|59482|213599|253844|264349|311064|322495|323175|353900|431920|481403|514612|550617|550618|552633|583107|614350|614351|624855|677431|798626|798627|816515|818392|919286|919287|920285|964345|965204|967124|976660", + "upstreamId": "39482|39483|39484|39485|47604|47604|47605|59481|59482|213599|253844|264349|311064|322495|323175|353900|431920|481403|514612|550617|550618|552633|583107|614350|614351|624855|677431|798626|798627|816515|818392|919286|919287|920285|964345|965204|967124|976660", "text": "Blepharophimosis - intellectual disability syndrome, SBBYS type" }, { - "baseId": "39487|39489|39490|47604|47604|150148|150150|150152|207791|253844|253845|253846|253847|253849|253851|253852|322482|322517|495257|514612|552145|552633|563951|566503|614350|614351|639160|639161|677431|692889|775720|790982|790983|790984|837307|837308|837309|837310|837311|947073|967124|976660", + "upstreamId": "39487|39489|39490|47604|47604|150148|150150|150152|207791|253844|253845|253846|253847|253849|253851|253852|322482|322517|495257|514612|552145|552633|563951|566503|614350|614351|639160|639161|677431|692889|775720|790982|790983|790984|837307|837308|837309|837310|837311|947073|967124|976660", "text": "Genitopatellar syndrome" }, { - "baseId": "39492|66321|133499|222576|363242", + "upstreamId": "39492|66321|133499|222576|363242", "text": "Diffuse intrinsic pontine glioma" }, { - "baseId": "39501|39502|39503|39504|169314|169315|169316|169317|169318|169319|169320|169321|169322|169323|169324|169325|169326|169327|169328|169329|169330|169331|327361|327365|343427|343430|343431|343441|343443|345028|345029|345030|361006|620883|626251|876845|876846|876847|876848|876849|876850|880467|919704", + "upstreamId": "39501|39502|39503|39504|169314|169315|169316|169317|169318|169319|169320|169321|169322|169323|169324|169325|169326|169327|169328|169329|169330|169331|327361|327365|343427|343430|343431|343441|343443|345028|345029|345030|361006|620883|626251|876845|876846|876847|876848|876849|876850|880467|919704", "text": "CHIME syndrome" }, { - "baseId": "39501|169319|169322|169325|327361|327365|343427|343430|343431|343441|343443|345028|345029|345030", + "upstreamId": "39501|169319|169322|169325|327361|327365|343427|343430|343431|343441|343443|345028|345029|345030", "text": "Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome" }, { - "baseId": 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+ "upstreamId": "39506|106812|106813|215560|259227|259228|259229|259230|259231|259232|259233|259234|376028|376041|389175|390374|390379|410404|415607|415608|439466|439467|442036|445996|445999|446000|446001|446002|468085|468089|468107|468108|468112|468122|468127|468131|468133|469021|469022|469029|469032|469039|469046|469049|469052|469059|469060|469424|469426|469432|469443|469444|469446|469866|469869|469872|469890|469892|469898|469900|469903|469904|481446|508906|513652|513653|532326|532328|532330|532338|532341|532347|532360|532365|532367|532369|532370|532374|532377|532475|532481|532483|532792|532794|532800|532806|532810|532814|532819|570244|570246|570248|570250|571985|571991|571993|571999|572003|572006|572535|572679|572682|572689|572692|574775|574776|574777|574778|574779|574780|574781|574782|577692|577695|577696|577697|580321|580383|580391|580425|580544|589286|626270|647367|647368|647369|647370|647371|647372|647373|647374|647375|647376|647377|647378|647379|647380|647381|647382|647383|647384|647385|647386|647387|647388|647389|647390|647391|647392|647393|647394|647395|647396|652884|652904|652910|652911|653081|653377|653410|653414|682107|694290|704642|704643|704644|704645|704646|704647|716020|716021|731222|741420|741422|745032|756501|756502|756505|756506|756509|756510|756513|778590|785966|791880|798738|821197|846984|846985|846986|846987|846988|846989|846990|846991|846992|846993|846994|846995|846996|846997|846998|846999|847000|847001|847002|847003|847004|847005|847006|847007|847008|847009|847010|847011|847012|847013|847014|852285|852288|852291|852294|852826|852937|852939|857693|860492|928752|928753|928754|928755|928756|928757|928758|928759|928760|928761|928762|928763|928764|928765|928766|928767|938478|938479|938480|938481|938482|938483|938484|938485|938486|938487|938488|938489|938490|938491|940460|941215|941216|950573|950574|950575|950576|950577|950578|950579|950580|958488|958489|958490|958491|958492|960272|960906|960907|960908|970549", "text": "Multiple congenital anomalies-hypotonia-seizures syndrome 1" }, { - "baseId": "39508", + "upstreamId": "39508", "text": "Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3" }, { - "baseId": "39517|39518|247192|384424|976673|976674", + "upstreamId": "39517|39518|247192|384424|976673|976674", "text": "Schizophrenia 15" }, { - "baseId": "39519|39520|39521|39522|39523|137712|331230|399906|399958|400191|464570|464635|477067|528380|566698|573026|917735", + "upstreamId": "39519|39520|39521|39522|39523|137712|331230|399906|399958|400191|464570|464635|477067|528380|566698|573026|917735", "text": "Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors" }, { - "baseId": "39525|39526|39527|39528|39529|141396|141397|211314|211315|211318|259853|370907|406999|432357|432358|456749|457017|481493|501893|522381|522383|523096|523098|561622|561634|566067|635840|635841|635842|635843|635844|635845|635846|635847|635848|651585|651608|651645|651776|710849|750474|750478|766143|766145|787505|819834|819835|819836|819837|819838|819839|819840|833261|833262|833263|833264|833265|833266|833267|833268|833269|833270|833271|924727|924728|924729|933736|933737|933738|945500|945501|961236|961237", + "upstreamId": "39525|39526|39527|39528|39529|141396|141397|211314|211315|211318|259853|370907|406999|432357|432358|456749|457017|481493|501893|522381|522383|523096|523098|561622|561634|566067|635840|635841|635842|635843|635844|635845|635846|635847|635848|651585|651608|651645|651776|710849|750474|750478|766143|766145|787505|819834|819835|819836|819837|819838|819839|819840|833261|833262|833263|833264|833265|833266|833267|833268|833269|833270|833271|924727|924728|924729|933736|933737|933738|945500|945501|961236|961237", "text": "Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)" }, { - "baseId": "39530|227735", + "upstreamId": "39530|227735", "text": "MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH CONGENITAL HEART DEFECTS" }, { - "baseId": "39531|39532", + "upstreamId": "39531|39532", "text": "Retinitis pigmentosa 61" }, { - "baseId": "39536", + "upstreamId": "39536", "text": "Osteomyelitis leading to amputation due to slow healing fractures" }, { - "baseId": "39536", + "upstreamId": "39536", "text": "Penetrating foot ulcers" }, { - "baseId": "39536|361025", + "upstreamId": "39536|361025", "text": "Distal sensory impairment" }, { - "baseId": "39544|39545|135824|195354|391252|427838|794110", + "upstreamId": "39544|39545|135824|195354|391252|427838|794110", "text": "Mental retardation, autosomal recessive 12" }, { - "baseId": "39546|227301|300695|300697|300705|303620|303622|303623|308159|308161|308169|308220|308229|308230|456243|521692|560746|563629|563632|634979|634980|634981|765741|819698|832032|832033|832034|832035|832036|896665|896666|896667|900248|900249|924377|924378|924379|933356|945061|945062|945063|945064|954498|954499", + "upstreamId": "39546|227301|300695|300697|300705|303620|303622|303623|308159|308161|308169|308220|308229|308230|456243|521692|560746|563629|563632|634979|634980|634981|765741|819698|832032|832033|832034|832035|832036|896665|896666|896667|900248|900249|924377|924378|924379|933356|945061|945062|945063|945064|954498|954499", "text": "Candidiasis, familial, 6" }, { - "baseId": "39547|195408|430007|432359|432360|432361|432362|481466", + "upstreamId": "39547|195408|430007|432359|432360|432361|432362|481466", "text": "Striatal necrosis, bilateral, and progressive polyneuropathy" }, { - "baseId": "39548|462737|527886|641392|641393|702512|702513|725280|926738", + "upstreamId": "39548|462737|527886|641392|641393|702512|702513|725280|926738", "text": "Klippel-Feil syndrome 3, autosomal dominant" }, { - "baseId": "39548", + "upstreamId": "39548", "text": "Missing ribs" }, { - "baseId": "39548", + "upstreamId": "39548", "text": "Supernumerary ribs" }, { - "baseId": "39548|377641|966697|966704", + "upstreamId": "39548|377641|966697|966704", "text": "Hemivertebrae" }, { - "baseId": "39549|39550", + "upstreamId": "39549|39550", "text": "Microphthalmia, isolated 7" }, { - "baseId": "39555|140023|140025|140026|140027|140028|140029|172155|211999|212000|212001|243739|244166|288934|290052|292635|292640|293546|293586|300336|300339|300340|300368|303215|307681|307845|307865|307869|310954|310959|316234|322354|322361|322363|322914|322916|322918|322934|323545|324778|324927|324935|326185|329724|330971|334395|334560|334562|334578|338837|340989|342504|342509|342515|342525|352058|360628|379916|404439|404484|438582|471256|471693|472053|500638|507839|508492|534492|534507|534509|534600|537587|575325|585859|649669|649670|649671|649672|649673|649674|649675|649676|649677|649678|649679|649680|653773|684944|689335|690250|717644|758294|849603|849604|849605|849606|849607|849608|849609|849610|849611|849612|902774|905514|929561|929562|929563|939423|939424|939425|939426|951590|951591|951592|959163|959164|959165", + "upstreamId": "39555|140023|140025|140026|140027|140028|140029|172155|211999|212000|212001|243739|244166|288934|290052|292635|292640|293546|293586|300336|300339|300340|300368|303215|307681|307845|307865|307869|310954|310959|316234|322354|322361|322363|322914|322916|322918|322934|323545|324778|324927|324935|326185|329724|330971|334395|334560|334562|334578|338837|340989|342504|342509|342515|342525|352058|360628|379916|404439|404484|438582|471256|471693|472053|500638|507839|508492|534492|534507|534509|534600|537587|575325|585859|649669|649670|649671|649672|649673|649674|649675|649676|649677|649678|649679|649680|653773|684944|689335|690250|717644|758294|849603|849604|849605|849606|849607|849608|849609|849610|849611|849612|902774|905514|929561|929562|929563|939423|939424|939425|939426|951590|951591|951592|959163|959164|959165", "text": "Combined oxidative phosphorylation deficiency" }, { - "baseId": "39556|39557|39558|39559|190553|193642|195734|202871|445413|569589|972210|972211|972212", + "upstreamId": "39556|39557|39558|39559|190553|193642|195734|202871|445413|569589|972210|972211|972212", "text": "Adult neuronal ceroid lipofuscinosis" }, { - "baseId": "39562|335338|335358|335359|335360|335361|335369|335371|335374|335378|345199|345200|345203|345205|349932|349936|349937|349940|349941|349943|349944|350941|350942|350945|350947|350950|350951|350954|350955|350958|575091|575091|757496|886058|886059|886060|886061|886062|886063|886064|886065|886066|886067|886068|886069|886070|886071|887457|887458", + "upstreamId": "39562|335338|335358|335359|335360|335361|335369|335371|335374|335378|345199|345200|345203|345205|349932|349936|349937|349940|349941|349943|349944|350941|350942|350945|350947|350950|350951|350954|350955|350958|575091|575091|757496|886058|886059|886060|886061|886062|886063|886064|886065|886066|886067|886068|886069|886070|886071|887457|887458", "text": "Chilblain lupus 2" }, { - "baseId": "39564|50319|50320|50321|508863|508864|815993|919341", + "upstreamId": "39564|50319|50320|50321|508863|508864|815993|919341", "text": "Hemorrhagic destruction of the brain, subependymal calcification, and cataracts" }, { - "baseId": "39579|39580|39581|39582|142157", + "upstreamId": "39579|39580|39581|39582|142157", "text": "Mitochondrial complex 1 deficiency, nuclear type 11" }, { - "baseId": "39585|101888|101888|177144|177144|181437|190600|190601|237188|237188|319769|319770|319770|319781|319782|319790|319802|319805|319806|319808|319809|328296|328297|328299|328301|328301|328304|328304|328309|328310|328314|328325|328344|334768|334769|334775|334776|334779|334782|334782|334793|334795|336504|336505|336510|336512|336513|336519|372822|372827|373841|426044|463273|480625|480626|485963|485964|485965|485966|504270|527728|527728|527763|566119|567579|576160|578508|641939|641940|688170|688170|695598|695598|702685|730919|730919|769560|769561|784600|791344|805024|818397|840886|840887|840888|840889|840890|871286|871287|871288|871289|871290|871291|871292|871293|871294|871295|871296|871297|871298|871299|871300|871301|871302|871303|871304|871305|871306|871307|871308|871309|871310|871311|871312|871313|871314|872335|872336", + "upstreamId": "39585|101888|101888|177144|177144|181437|190600|190601|237188|237188|319769|319770|319770|319781|319782|319790|319802|319805|319806|319808|319809|328296|328297|328299|328301|328301|328304|328304|328309|328310|328314|328325|328344|334768|334769|334775|334776|334779|334782|334782|334793|334795|336504|336505|336510|336512|336513|336519|372822|372827|373841|426044|463273|480625|480626|485963|485964|485965|485966|504270|527728|527728|527763|566119|567579|576160|578508|641939|641940|688170|688170|695598|695598|702685|730919|730919|769560|769561|784600|791344|805024|818397|840886|840887|840888|840889|840890|871286|871287|871288|871289|871290|871291|871292|871293|871294|871295|871296|871297|871298|871299|871300|871301|871302|871303|871304|871305|871306|871307|871308|871309|871310|871311|871312|871313|871314|872335|872336", "text": "Congenital disorder of glycosylation type 2L" }, { - "baseId": "39586|141821|141822|201765|201767|201769|201770|201771|201772|201773|201774|201775|201778|226379|226380|367956|367959|368012|453153|453154|453157|453421|453427|453531|453533|453616|514496|519903|519907|519921|519925|519929|519930|519931|519939|520152|520183|520185|559673|559675|559677|559679|559681|559702|559834|559836|559838|562003|562004|562007|562008|562012|562013|563690|563700|563701|576782|586275|632198|632199|632200|632201|632202|632203|651190|695235|764460|764461|829143|829144|829145|829146|829147|829148|829149|829150|850986|905866|918893|918894|923507|923508|923509|923510|923511|923512|923513|932329|932330|932331|932332|932333|932334|932335|932336|932337|939967|943993|943994|943995|943996|943997|943998|966794|966795", + "upstreamId": "39586|141821|141822|201765|201767|201769|201770|201771|201772|201773|201774|201775|201778|226379|226380|367956|367959|368012|453153|453154|453157|453421|453427|453531|453533|453616|514496|519903|519907|519921|519925|519929|519930|519931|519939|520152|520183|520185|559673|559675|559677|559679|559681|559702|559834|559836|559838|562003|562004|562007|562008|562012|562013|563690|563700|563701|576782|586275|632198|632199|632200|632201|632202|632203|651190|695235|764460|764461|829143|829144|829145|829146|829147|829148|829149|829150|850986|905866|918893|918894|923507|923508|923509|923510|923511|923512|923513|932329|932330|932331|932332|932333|932334|932335|932336|932337|939967|943993|943994|943995|943996|943997|943998|966794|966795", "text": "Pyruvate dehydrogenase lipoic acid synthetase deficiency" }, { - "baseId": "39587", + "upstreamId": "39587", "text": "Psoriasis susceptibility 13" }, { - "baseId": "39588|39590|39591|39592|49863|49909|190898|204645|432334|619859|971076", + "upstreamId": "39588|39590|39591|39592|49863|49909|190898|204645|432334|619859|971076", "text": "Bruck syndrome 1" }, { - "baseId": "39593|39594|39595|190053|227388|328051|328056|328072|328078|328080|328104|337890|337902|337922|337928|337932|344128|344152|345491|345524|345529|345544|791742", + "upstreamId": "39593|39594|39595|190053|227388|328051|328056|328072|328078|328080|328104|337890|337902|337922|337928|337932|344128|344152|345491|345524|345529|345544|791742", "text": "Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques" }, { - "baseId": "39600|434582|677003", + "upstreamId": "39600|434582|677003", "text": "Combined oxidative phosphorylation deficiency 9" }, { - "baseId": "39602|39603|39604|39605|39606|39607|251148|251149|251150|251151|251152|251154|251156|251157|251158|251159|251160|251161|251162|251163|251164|251165|251166|251167|251168|290588|290594|290595|290602|290606|290608|290612|290615|290616|290625|290627|290628|290632|290635|290636|290638|290640|290641|290644|290645|290652|290653|290663|290666|290670|290675|291470|291471|291472|291474|291476|291482|291488|291501|291505|291508|291510|291516|291517|291519|291521|291527|291543|291545|291548|291554|291555|291564|291565|291572|291589|291592|291606|291607|291608|294727|294728|294729|294731|294746|294747|294751|294752|294753|294763|294766|294767|294770|294772|294775|294776|294777|294780|294781|294782|294785|294787|295094|295095|295099|295106|295113|295114|295130|295131|295137|295144|295147|295148|295160|295162|295166|295167|295168|295170|295177|295181|295183|295189|295190|424503|424504|452427|452434|452436|452648|452656|452660|452662|452741|452742|452983|452985|452987|519310|519353|519554|631453|631454|631455|631456|631457|681803|686429|691422|691423|691424|695204|828187|828188|859272|889037|889038|889039|889040|889041|889042|889043|889044|889045|889046|889047|889048|889049|889050|889051|889052|889053|889054|889055|889056|889057|889058|889059|889060|889061|889062|889063|889064|889065|889066|889067|889068|889069|889070|889071|889072|889073|889074|889075|889076|889077|889078|889079|889080|889081|889082|889083|889084|889085|889086|889087|889088|889089|889090|889091|889092|889093|889094|889095|891650|891651|891652|891653|923218|931962|931963|943571|970768|970769", + "upstreamId": "39602|39603|39604|39605|39606|39607|251148|251149|251150|251151|251152|251154|251156|251157|251158|251159|251160|251161|251162|251163|251164|251165|251166|251167|251168|290588|290594|290595|290602|290606|290608|290612|290615|290616|290625|290627|290628|290632|290635|290636|290638|290640|290641|290644|290645|290652|290653|290663|290666|290670|290675|291470|291471|291472|291474|291476|291482|291488|291501|291505|291508|291510|291516|291517|291519|291521|291527|291543|291545|291548|291554|291555|291564|291565|291572|291589|291592|291606|291607|291608|294727|294728|294729|294731|294746|294747|294751|294752|294753|294763|294766|294767|294770|294772|294775|294776|294777|294780|294781|294782|294785|294787|295094|295095|295099|295106|295113|295114|295130|295131|295137|295144|295147|295148|295160|295162|295166|295167|295168|295170|295177|295181|295183|295189|295190|424503|424504|452427|452434|452436|452648|452656|452660|452662|452741|452742|452983|452985|452987|519310|519353|519554|631453|631454|631455|631456|631457|681803|686429|691422|691423|691424|695204|828187|828188|859272|889037|889038|889039|889040|889041|889042|889043|889044|889045|889046|889047|889048|889049|889050|889051|889052|889053|889054|889055|889056|889057|889058|889059|889060|889061|889062|889063|889064|889065|889066|889067|889068|889069|889070|889071|889072|889073|889074|889075|889076|889077|889078|889079|889080|889081|889082|889083|889084|889085|889086|889087|889088|889089|889090|889091|889092|889093|889094|889095|891650|891651|891652|891653|923218|931962|931963|943571|970768|970769", "text": "Cataract 18" }, { - "baseId": "39612|39613|135311|135312|247698|247699|247700|255744|255745|325373|325377|325378|325386|325388|325390|325391|325393|325399|341512|343012|343015|343019|343027|343031|343039|429811|429813|620542|620876|875306|875307|875308|875309|875310|875311|875312|875313|875314|875315|875316|875317|875318|966042", + "upstreamId": "39612|39613|135311|135312|247698|247699|247700|255744|255745|325373|325377|325378|325386|325388|325390|325391|325393|325399|341512|343012|343015|343019|343027|343031|343039|429811|429813|620542|620876|875306|875307|875308|875309|875310|875311|875312|875313|875314|875315|875316|875317|875318|966042", "text": "Meier-Gorlin syndrome 3" }, { - "baseId": "39614|227500", + "upstreamId": "39614|227500", "text": "Dentin dysplasia, type I, with extreme microdontia and misshapen teeth" }, { - "baseId": "39615|133856|208092|236721|236722|404816", + "upstreamId": "39615|133856|208092|236721|236722|404816", "text": "Spastic paraplegia 52, autosomal recessive" }, { - "baseId": "39616|39617|39618|133849|133850|133851|373594|465261|622907", + "upstreamId": "39616|39617|39618|133849|133850|133851|373594|465261|622907", "text": "Spastic paraplegia 51, autosomal recessive" }, { - "baseId": "39619|39620|166193|167564|167565|167566|167567|167568|167569|167570|167572|167574|167575|206568|206709|215180|221075|238125|238126|238127|364370|390789|390791|404883|427625|427626|427629|446986|447057|447094|447100|447102|447141|515015|515043|515044|556842|556847|556980|556982|578704|578715|626641|626642|626643|626644|626645|626646|626647|626648|626649|626650|683272|683275|685548|816519|818839|822560|822561|822562|822563|920121|920122|921589|921590|929977|941393|964124|964642", + "upstreamId": "39619|39620|166193|167564|167565|167566|167567|167568|167569|167570|167572|167574|167575|206568|206709|215180|221075|238125|238126|238127|364370|390789|390791|404883|427625|427626|427629|446986|447057|447094|447100|447102|447141|515015|515043|515044|556842|556847|556980|556982|578704|578715|626641|626642|626643|626644|626645|626646|626647|626648|626649|626650|683272|683275|685548|816519|818839|822560|822561|822562|822563|920121|920122|921589|921590|929977|941393|964124|964642", "text": "Spastic paraplegia 47, autosomal recessive" }, { - "baseId": "39635|39636|48439", + "upstreamId": "39635|39636|48439", "text": "Focal facial dermal dysplasia 3, Setleis type" }, { - "baseId": "39638|39639|439997|439998|439999|440000|440001|508923", + "upstreamId": "39638|39639|439997|439998|439999|440000|440001|508923", "text": "Acne inversa, familial, 2" }, { - "baseId": "39640|39641|309343|309344|309348|309349|309355|309356|309360|309363|309365|309366|309373|309374|314031|314038|314049|314051|314056|314057|314058|319931|319940|319942|319953|319954|319962|319964|319966|319968|319972|319976|320458|320477|320478|320481|320484|320488|320492|751932|767613|865326|865327|865328|865329|865330|865331|865332|865333|865334|865335|865336|865337|865338|865339|865340|865341|865342|865343|919253|920277", + "upstreamId": "39640|39641|309343|309344|309348|309349|309355|309356|309360|309363|309365|309366|309373|309374|314031|314038|314049|314051|314056|314057|314058|319931|319940|319942|319953|319954|319962|319964|319966|319968|319972|319976|320458|320477|320478|320481|320484|320488|320492|751932|767613|865326|865327|865328|865329|865330|865331|865332|865333|865334|865335|865336|865337|865338|865339|865340|865341|865342|865343|919253|920277", "text": "Hypomagnesemia 6, renal" }, { - "baseId": "39647|39648|39649|241215|241216|241217|398390|398393|398398|398481|398483|398786|398928|398929|398932|461722|461724|461730|462036|462037|462352|462355|462356|526528|526529|526539|526546|526550|526585|526587|526806|526808|527096|527100|527102|527108|564940|564947|564949|566223|566226|566234|566236|567575|571048|571050|626211|640525|640526|640527|640528|640529|640530|640531|640532|640533|652248|684269|685295|685296|687832|687833|687835|687836|687837|687838|693120|791184|839173|839174|839175|839176|839177|839178|839179|839180|839181|839182|839183|839184|839185|839186|839187|839188|839189|851468|852648|926418|926419|926420|926421|926422|926423|926424|926425|926426|935862|935863|935864|935865|935866|935867|935868|935869|935870|935871|935872|935873|935874|947735|947736|947737|947738|947739|947740|947741|947742|947743|947744|947745|947746|947747|956719|956720|956721|965927", + "upstreamId": "39647|39648|39649|241215|241216|241217|398390|398393|398398|398481|398483|398786|398928|398929|398932|461722|461724|461730|462036|462037|462352|462355|462356|526528|526529|526539|526546|526550|526585|526587|526806|526808|527096|527100|527102|527108|564940|564947|564949|566223|566226|566234|566236|567575|571048|571050|626211|640525|640526|640527|640528|640529|640530|640531|640532|640533|652248|684269|685295|685296|687832|687833|687835|687836|687837|687838|693120|791184|839173|839174|839175|839176|839177|839178|839179|839180|839181|839182|839183|839184|839185|839186|839187|839188|839189|851468|852648|926418|926419|926420|926421|926422|926423|926424|926425|926426|935862|935863|935864|935865|935866|935867|935868|935869|935870|935871|935872|935873|935874|947735|947736|947737|947738|947739|947740|947741|947742|947743|947744|947745|947746|947747|956719|956720|956721|965927", "text": "Mosaic variegated aneuploidy syndrome 2" }, { - "baseId": "39650|39651", + "upstreamId": "39650|39651", "text": "Stuttering, familial persistent 2" }, { - "baseId": "39653|39654|39655|96881|106505|185944|185946|185947|185948|244133|244134|244135|246742|590322|682339|815882|919641|919642", + "upstreamId": "39653|39654|39655|96881|106505|185944|185946|185947|185948|244133|244134|244135|246742|590322|682339|815882|919641|919642", "text": "Spondylocostal dysostosis 5" }, { - "baseId": "39653|550633", + "upstreamId": "39653|550633", "text": "Spondylocostal dysostosis 4, autosomal recessive" }, { - "baseId": "39656|39657|142217|142218|142219|142220|142221|210890|287089|287090|287092|287098|287831|287833|287835|290246|290270|290289|290292|290650|290654|290655|290656|290659|406004|481431|481432|518651|650821|792731|885381|885382|885383|885384|885385|885386|885387|922899", + "upstreamId": "39656|39657|142217|142218|142219|142220|142221|210890|287089|287090|287092|287098|287831|287833|287835|290246|290270|290289|290292|290650|290654|290655|290656|290659|406004|481431|481432|518651|650821|792731|885381|885382|885383|885384|885385|885386|885387|922899", "text": "Multiple mitochondrial dysfunctions syndrome 1" }, { - "baseId": "39660|39661|177355|246965|251473|251474|251475|251476|251477|251478|251479|251480|251484|271921|293387|293391|293392|293399|293401|293402|293403|293407|293411|293413|294760|294761|294762|294789|294794|294795|294796|294799|298350|298351|298360|298363|298384|298399|298413|298420|298421|298423|298424|298427|298430|298431|298432|298433|298434|298437|298475|406435|428297|453405|453413|609539|698513|709360|781951|795582|799353|890632|890633|890634|890635|890636|890637|890638|890639|890640|890641|890642|890643|890644|890645|890646|890647|890648|890649|890650|890651|890652|890653|891790|891791|891792|918892|920203", + "upstreamId": "39660|39661|177355|246965|251473|251474|251475|251476|251477|251478|251479|251480|251484|271921|293387|293391|293392|293399|293401|293402|293403|293407|293411|293413|294760|294761|294762|294789|294794|294795|294796|294799|298350|298351|298360|298363|298384|298399|298413|298420|298421|298423|298424|298427|298430|298431|298432|298433|298434|298437|298475|406435|428297|453405|453413|609539|698513|709360|781951|795582|799353|890632|890633|890634|890635|890636|890637|890638|890639|890640|890641|890642|890643|890644|890645|890646|890647|890648|890649|890650|890651|890652|890653|891790|891791|891792|918892|920203", "text": "Cranioectodermal dysplasia 4" }, { - "baseId": "39660|39660|132652|132653|132655|132656|132656|132656|132657|132657|177355|187261|187262|192783|246965|251476|251477|251478|251479|251480|251482|251484|260901|264179|270911|270914|270916|271921|293387|293399|294789|294794|294797|298351|298359|298399|298421|298427|298431|298432|406435|428297|434039|440088|440088|440089|453405|453413|453414|453420|453529|519919|520178|549469|553585|559832|609538|609541|620163|632194|632195|632196|632197|679660|698513|698514|698515|698516|709360|730288|730289|734629|748938|759518|764459|775076|777509|781951|795582|799353|829124|829125|829126|829127|829128|829129|829130|829131|829132|829133|829134|829135|829136|829137|829138|829139|829140|829141|829142|851122|851502|851604|890634|890635|890649|891790|923506|932317|932318|932319|932320|932321|932322|932323|932324|932325|932326|932327|932328|939966|943978|943979|943980|943981|943982|943983|943984|943985|943986|943987|943988|943989|943990|943991|943992|953769|953770|953771|953772|953773|953774|953775|959725|960538|962702", + "upstreamId": "39660|39660|132652|132653|132655|132656|132656|132656|132657|132657|177355|187261|187262|192783|246965|251476|251477|251478|251479|251480|251482|251484|260901|264179|270911|270914|270916|271921|293387|293399|294789|294794|294797|298351|298359|298399|298421|298427|298431|298432|406435|428297|434039|440088|440088|440089|453405|453413|453414|453420|453529|519919|520178|549469|553585|559832|609538|609541|620163|632194|632195|632196|632197|679660|698513|698514|698515|698516|709360|730288|730289|734629|748938|759518|764459|775076|777509|781951|795582|799353|829124|829125|829126|829127|829128|829129|829130|829131|829132|829133|829134|829135|829136|829137|829138|829139|829140|829141|829142|851122|851502|851604|890634|890635|890649|891790|923506|932317|932318|932319|932320|932321|932322|932323|932324|932325|932326|932327|932328|939966|943978|943979|943980|943981|943982|943983|943984|943985|943986|943987|943988|943989|943990|943991|943992|953769|953770|953771|953772|953773|953774|953775|959725|960538|962702", "text": "Senior-Loken syndrome 8" }, { - "baseId": "39660|39660|39662|132656|132657|177355|177355|192783|246965|246965|251473|251474|251475|251476|251476|251477|251477|251478|251478|251479|251479|251480|251480|251482|251484|251484|264179|270911|270914|270916|271921|271921|293387|293387|293391|293392|293399|293399|293401|293402|293403|293407|293411|293413|294760|294761|294762|294789|294789|294794|294794|294795|294796|294797|294799|298350|298351|298351|298359|298360|298363|298384|298399|298399|298413|298420|298421|298421|298423|298424|298427|298427|298430|298431|298431|298432|298432|298433|298434|298437|298475|406435|406435|428297|428297|434039|440088|440089|453405|453405|453413|453413|453414|453420|453529|519919|520178|549469|553585|559832|609538|609539|609541|632194|632195|632196|632197|679660|698513|698513|698514|698515|698516|709360|709360|730288|730289|734629|748938|759518|764459|775076|777509|781951|781951|790470|790471|790472|795582|795582|799353|799353|829124|829125|829126|829127|829128|829129|829130|829131|829132|829133|829134|829135|829136|829137|829138|829139|829140|829141|829142|851122|851502|851604|890632|890633|890634|890634|890635|890635|890636|890637|890638|890639|890640|890641|890642|890643|890644|890645|890646|890647|890648|890649|890649|890650|890651|890652|890653|891790|891790|891791|891792|923506|932317|932318|932319|932320|932321|932322|932323|932324|932325|932326|932327|932328|939966|943978|943979|943980|943981|943982|943983|943984|943985|943986|943987|943988|943989|943990|943991|943992|953769|953770|953771|953772|953773|953774|953775|959725|960538", + "upstreamId": "39660|39660|39662|132656|132657|177355|177355|192783|246965|246965|251473|251474|251475|251476|251476|251477|251477|251478|251478|251479|251479|251480|251480|251482|251484|251484|264179|270911|270914|270916|271921|271921|293387|293387|293391|293392|293399|293399|293401|293402|293403|293407|293411|293413|294760|294761|294762|294789|294789|294794|294794|294795|294796|294797|294799|298350|298351|298351|298359|298360|298363|298384|298399|298399|298413|298420|298421|298421|298423|298424|298427|298427|298430|298431|298431|298432|298432|298433|298434|298437|298475|406435|406435|428297|428297|434039|440088|440089|453405|453405|453413|453413|453414|453420|453529|519919|520178|549469|553585|559832|609538|609539|609541|632194|632195|632196|632197|679660|698513|698513|698514|698515|698516|709360|709360|730288|730289|734629|748938|759518|764459|775076|777509|781951|781951|790470|790471|790472|795582|795582|799353|799353|829124|829125|829126|829127|829128|829129|829130|829131|829132|829133|829134|829135|829136|829137|829138|829139|829140|829141|829142|851122|851502|851604|890632|890633|890634|890634|890635|890635|890636|890637|890638|890639|890640|890641|890642|890643|890644|890645|890646|890647|890648|890649|890649|890650|890651|890652|890653|891790|891790|891791|891792|923506|932317|932318|932319|932320|932321|932322|932323|932324|932325|932326|932327|932328|939966|943978|943979|943980|943981|943982|943983|943984|943985|943986|943987|943988|943989|943990|943991|943992|953769|953770|953771|953772|953773|953774|953775|959725|960538", "text": "Asphyxiating thoracic dystrophy 5" }, { - "baseId": "39663|39664|132653|132654|132655|132656|440088|613995|906240|962700|962701", + "upstreamId": "39663|39664|132653|132654|132655|132656|440088|613995|906240|962700|962701", "text": "Nephronophthisis 13" }, { - "baseId": "39665|190173|190174|590649|590650", + "upstreamId": "39665|190173|190174|590649|590650", "text": "46,XX sex reversal 2" }, { - "baseId": "39666|39666|195021|268151|280332|282024|447763|491179|515893|557285|557287|627740|627741|732350|732351|746394|746395|761844|761845|761847|761848|761849|780663|780665|788736|823865|823866|823867|823868|864265|918628|930460|930461|930462|940630|941910|941911|952383|952384|952385|952386|977534", + "upstreamId": "39666|39666|195021|268151|280332|282024|447763|491179|515893|557285|557287|627740|627741|732350|732351|746394|746395|761844|761845|761847|761848|761849|780663|780665|788736|823865|823866|823867|823868|864265|918628|930460|930461|930462|940630|941910|941911|952383|952384|952385|952386|977534", "text": "Retinitis pigmentosa 59" }, { - "baseId": "39666|442804|481158|798469", + "upstreamId": "39666|442804|481158|798469", "text": "Developmental delay and seizures with or without movement abnormalities" }, { - "baseId": "39667|39668|39669|39670|39671|39672|190540|265794|266619|267431|268766|272464|464536|464788|464792|464793|512114|528584|539056|585538|588796|642984|642985|642986|642987|714311|714312|714313|714314|714315|714316|714317|927252|927253|927254|948779|957366|957367", + "upstreamId": "39667|39668|39669|39670|39671|39672|190540|265794|266619|267431|268766|272464|464536|464788|464792|464793|512114|528584|539056|585538|588796|642984|642985|642986|642987|714311|714312|714313|714314|714315|714316|714317|927252|927253|927254|948779|957366|957367", "text": "Temtamy preaxial brachydactyly syndrome" }, { - "baseId": "39673", + "upstreamId": "39673", "text": "Inflammatory bowel disease 19" }, { - "baseId": "39674", + "upstreamId": "39674", "text": "Psychomotor retardation, epilepsy, and craniofacial dysmorphism" }, { - "baseId": "39676", + "upstreamId": "39676", "text": "Hypotrichosis 3" }, { - "baseId": "39677|134297|134298|134299|134300|140727|194135|199988|199990|199993|206940|237339|250535|250541|265568|284537|284542|284559|285223|285225|285239|285240|287384|287386|287393|287394|287416|287418|287420|287646|450317|450597|541822|541824|541833|541877|557834|560817|655413|655415|686141|691025|691026|707996|719576|719577|743846|743850|747240|759194|762852|762855|762856|781139|825645|825650|977662|977663|977664|977665|977666|977667|977668|977669|977670|977671|977672|977673|977674|977675", + "upstreamId": "39677|134297|134298|134299|134300|140727|194135|199988|199990|199993|206940|237339|250535|250541|265568|284537|284542|284559|285223|285225|285239|285240|287384|287386|287393|287394|287416|287418|287420|287646|450317|450597|541822|541824|541833|541877|557834|560817|655413|655415|686141|691025|691026|707996|719576|719577|743846|743850|747240|759194|762852|762855|762856|781139|825645|825650|977662|977663|977664|977665|977666|977667|977668|977669|977670|977671|977672|977673|977674|977675", "text": "Carbamoyl-phosphate synthase I deficiency" }, { - "baseId": "39683|39684|39685|418799|553307|553308|553309|553310|553311|590445", + "upstreamId": "39683|39684|39685|418799|553307|553308|553309|553310|553311|590445", "text": "Microphthalmia with limb anomalies" }, { - "baseId": "39689|134611|790599", + "upstreamId": "39689|134611|790599", "text": "Progressive myoclonic epilepsy, X-linked" }, { - "baseId": "39689|39690|135477|135478|135584|195065|195792|196090|196091|205736|266036|271784|292676|426664|440828|440830|440831|452753|452754|452757|453115|453116|453118|453130|453456|453465|453483|519654|519656|519657|519661|519858|519859|519861|519882|559134|559666|559668|559670|561795|561799|563290|563297|631768|631769|631770|631771|631772|631773|631774|631775|631776|631777|631778|691479|709013|720621|734268|734269|748500|764140|764143|777390|781795|793041|828532|828533|828534|828535|828536|828537|828538|828539|828540|828541|828542|828543|828544|828545|828546|828547|889600|923336|923337|923338|923339|923340|923341|923342|923343|932076|932077|932078|932079|932080|943692|943693|943694|943695|943696|943697|943698|953583|953584|953585|953586", + "upstreamId": "39689|39690|135477|135478|135584|195065|195792|196090|196091|205736|266036|271784|292676|426664|440828|440830|440831|452753|452754|452757|453115|453116|453118|453130|453456|453465|453483|519654|519656|519657|519661|519858|519859|519861|519882|559134|559666|559668|559670|561795|561799|563290|563297|631768|631769|631770|631771|631772|631773|631774|631775|631776|631777|631778|691479|709013|720621|734268|734269|748500|764140|764143|777390|781795|793041|828532|828533|828534|828535|828536|828537|828538|828539|828540|828541|828542|828543|828544|828545|828546|828547|889600|923336|923337|923338|923339|923340|923341|923342|923343|932076|932077|932078|932079|932080|943692|943693|943694|943695|943696|943697|943698|953583|953584|953585|953586", "text": "Epilepsy, progressive myoclonic 5" }, { - "baseId": "39696|344030|344036|578569|622469|805033|805034|882364|919885|919886|919887|919888|919889|919890|919891|961349", + "upstreamId": "39696|344030|344036|578569|622469|805033|805034|882364|919885|919886|919887|919888|919889|919890|919891|961349", "text": "Peripheral neuropathy, myopathy, hoarseness, and hearing loss" }, { - "baseId": "39697", + "upstreamId": "39697", "text": "SCOTT SYNDROME" }, { - "baseId": "39698|362439|789787|800380", + "upstreamId": "39698|362439|789787|800380", "text": "Ovarian dysgenesis 3" }, { - "baseId": "39699|39700|39701|39702|39703|302860|302862|302866|302868|302872|302874|302877|302881|302883|302889|302890|302897|302901|302902|302907|302908|302915|302917|302927|302932|302936|302937|306199|306200|306201|306202|306210|306219|306221|306224|306225|306226|306230|306232|306233|306235|306236|306242|306243|306244|306249|310938|310939|310948|310953|310956|310968|310970|310972|310974|310977|310980|310982|310984|311186|311187|311188|311190|311194|311195|311197|311198|311199|311200|311214|311215|311216|311236|311238|311241|311242|369441|389799|550165|578458|620262|700040|710978|898028|898029|898030|898031|898032|898033|898034|898035|898036|898037|898038|898039|898040|898041|898042|898043|898044|898045|898046|898047|898048|898049|898050|898051|898052|898053|898054|898055|898056|898057|898058|898059|898060|898061|898062|900359|900360", + "upstreamId": "39699|39700|39701|39702|39703|302860|302862|302866|302868|302872|302874|302877|302881|302883|302889|302890|302897|302901|302902|302907|302908|302915|302917|302927|302932|302936|302937|306199|306200|306201|306202|306210|306219|306221|306224|306225|306226|306230|306232|306233|306235|306236|306242|306243|306244|306249|310938|310939|310948|310953|310956|310968|310970|310972|310974|310977|310980|310982|310984|311186|311187|311188|311190|311194|311195|311197|311198|311199|311200|311214|311215|311216|311236|311238|311241|311242|369441|389799|550165|578458|620262|700040|710978|898028|898029|898030|898031|898032|898033|898034|898035|898036|898037|898038|898039|898040|898041|898042|898043|898044|898045|898046|898047|898048|898049|898050|898051|898052|898053|898054|898055|898056|898057|898058|898059|898060|898061|898062|900359|900360", "text": "Diaphanospondylodysostosis" }, { - "baseId": "39704|39705|39706|39707|101649|101650|190887|254031|254032|254033|254034|254035|254036|254037|254039|254043|254044|254045|254046|254047|254049|254052|254053|254056|313128|313133|313135|313137|313141|313143|313146|313150|313160|313163|313164|313167|313168|313172|313178|313179|313182|313183|313184|313193|313194|313195|319179|319184|319185|319186|319188|319189|319198|319205|319212|319214|319243|319253|319259|319262|319263|319265|319266|319271|319272|319273|319279|319280|319288|319289|319294|319313|319316|319317|319321|319322|319329|319330|319333|319334|325328|325329|325340|325350|325356|325359|325385|325392|325402|325403|325406|325411|325417|325418|325420|325422|325435|325436|325440|325441|325451|325452|325458|325462|325463|325471|325472|325476|326193|326213|326221|326230|326231|326234|326239|326240|326250|326254|326260|326261|326262|326330|326332|326336|326337|326342|326343|326353|326367|326371|326385|326393|326397|326398|326400|326402|326403|326404|326409|326411|408301|525984|526130|526482|620392|639817|687719|692953|692955|692956|692958|692960|695498|701650|701651|737844|752525|783907|801875|838106|838107|838108|867477|867478|867479|867480|867481|867482|867483|867484|867485|867486|867487|867488|867489|867490|867491|867492|867493|867494|867495|867496|867497|867498|867499|867500|867501|867502|867503|867504|867505|867506|867507|867508|867509|867510|867511|867512|867513|867514|867515|867516|867517|867518|867519|867520|867521|867522|867523|867524|867525|867526|867527|867528|867529|867530|867531|867532|867533|867534|867535|868616|868617|868618|919335|919336|919337|919338|926152|956425", + "upstreamId": "39704|39705|39706|39707|101649|101650|190887|254031|254032|254033|254034|254035|254036|254037|254039|254043|254044|254045|254046|254047|254049|254052|254053|254056|313128|313133|313135|313137|313141|313143|313146|313150|313160|313163|313164|313167|313168|313172|313178|313179|313182|313183|313184|313193|313194|313195|319179|319184|319185|319186|319188|319189|319198|319205|319212|319214|319243|319253|319259|319262|319263|319265|319266|319271|319272|319273|319279|319280|319288|319289|319294|319313|319316|319317|319321|319322|319329|319330|319333|319334|325328|325329|325340|325350|325356|325359|325385|325392|325402|325403|325406|325411|325417|325418|325420|325422|325435|325436|325440|325441|325451|325452|325458|325462|325463|325471|325472|325476|326193|326213|326221|326230|326231|326234|326239|326240|326250|326254|326260|326261|326262|326330|326332|326336|326337|326342|326343|326353|326367|326371|326385|326393|326397|326398|326400|326402|326403|326404|326409|326411|408301|525984|526130|526482|620392|639817|687719|692953|692955|692956|692958|692960|695498|701650|701651|737844|752525|783907|801875|838106|838107|838108|867477|867478|867479|867480|867481|867482|867483|867484|867485|867486|867487|867488|867489|867490|867491|867492|867493|867494|867495|867496|867497|867498|867499|867500|867501|867502|867503|867504|867505|867506|867507|867508|867509|867510|867511|867512|867513|867514|867515|867516|867517|867518|867519|867520|867521|867522|867523|867524|867525|867526|867527|867528|867529|867530|867531|867532|867533|867534|867535|868616|868617|868618|919335|919336|919337|919338|926152|956425", "text": "Holoprosencephaly 11" }, { - "baseId": "39710|39711|39712|39713|39714|39715|176585|497313|609025|615828", + "upstreamId": "39710|39711|39712|39713|39714|39715|176585|497313|609025|615828", "text": "Deafness, autosomal recessive 15" }, { - "baseId": "39719|39720|39721|39722|39724|191603|191843|192154|193798|195033|215396|215773|253486|253487|253488|253489|253490|253491|253492|253493|253494|253495|253496|253497|253498|265787|269506|270661|270789|273529|273864|307776|307777|307778|307780|307784|307785|307789|307791|307792|307794|307796|307797|307802|307803|307804|307811|307813|307815|307816|307817|307818|307822|307825|307828|307829|307831|307833|307834|307835|307836|307840|307841|307846|307856|307857|307859|307866|307868|307872|307875|312015|312016|312017|312028|312029|312034|312050|312051|312052|312062|312064|312071|312073|312100|312105|312106|312107|312108|312109|312122|312123|312141|312142|312147|312148|312154|312163|312164|312165|317697|317702|317705|317706|317717|317719|317723|317732|317736|317738|317740|317741|317742|317746|317750|317760|317771|317772|317775|317777|317781|317782|317784|317785|317786|317787|317789|317790|317800|317812|317813|317815|317824|317825|317830|317834|317838|317841|317843|317845|317846|317847|318175|318188|318193|318196|318200|318203|318205|318209|318225|318228|318253|318255|318265|318266|318270|318272|318275|318279|318281|318290|318291|318292|318293|318299|318302|318303|318313|318317|318323|318337|318345|318348|318350|318352|413788|489126|619923|700935|711907|723507|723509|723512|737074|737075|737079|737082|744368|751630|783387|783389|901596|901597|901598|901599|901600|901601|901602|901603|901604|901605|901606|901607|901608|901609|901610|901611|901612|901613|901614|901615|901616|901617|901618|901619|901620|901621|901622|901623|901624|901625|901626|901627|901628|901629|901630|901631|901632|901633|901634|901635|901636|901637|901638|901639|901640|901641|901642|901643|901644|901645|901646|901647|901648|901649|901650|901651|901652|901653|901654|901655|901656|901657|901658|901659|901660|901661|901662|901663|901664|901665|901666|901667|901668|901669|901670|901671|901672|901673|901674|901675|901676|901677|903359|903360|903361|903362|903363|903364|903365|903366|903367|903368|903369", + "upstreamId": "39719|39720|39721|39722|39724|191603|191843|192154|193798|195033|215396|215773|253486|253487|253488|253489|253490|253491|253492|253493|253494|253495|253496|253497|253498|265787|269506|270661|270789|273529|273864|307776|307777|307778|307780|307784|307785|307789|307791|307792|307794|307796|307797|307802|307803|307804|307811|307813|307815|307816|307817|307818|307822|307825|307828|307829|307831|307833|307834|307835|307836|307840|307841|307846|307856|307857|307859|307866|307868|307872|307875|312015|312016|312017|312028|312029|312034|312050|312051|312052|312062|312064|312071|312073|312100|312105|312106|312107|312108|312109|312122|312123|312141|312142|312147|312148|312154|312163|312164|312165|317697|317702|317705|317706|317717|317719|317723|317732|317736|317738|317740|317741|317742|317746|317750|317760|317771|317772|317775|317777|317781|317782|317784|317785|317786|317787|317789|317790|317800|317812|317813|317815|317824|317825|317830|317834|317838|317841|317843|317845|317846|317847|318175|318188|318193|318196|318200|318203|318205|318209|318225|318228|318253|318255|318265|318266|318270|318272|318275|318279|318281|318290|318291|318292|318293|318299|318302|318303|318313|318317|318323|318337|318345|318348|318350|318352|413788|489126|619923|700935|711907|723507|723509|723512|737074|737075|737079|737082|744368|751630|783387|783389|901596|901597|901598|901599|901600|901601|901602|901603|901604|901605|901606|901607|901608|901609|901610|901611|901612|901613|901614|901615|901616|901617|901618|901619|901620|901621|901622|901623|901624|901625|901626|901627|901628|901629|901630|901631|901632|901633|901634|901635|901636|901637|901638|901639|901640|901641|901642|901643|901644|901645|901646|901647|901648|901649|901650|901651|901652|901653|901654|901655|901656|901657|901658|901659|901660|901661|901662|901663|901664|901665|901666|901667|901668|901669|901670|901671|901672|901673|901674|901675|901676|901677|903359|903360|903361|903362|903363|903364|903365|903366|903367|903368|903369", "text": "Oculotrichoanal syndrome" }, { - "baseId": "39723|39724|413788|539021|624854", + "upstreamId": "39723|39724|413788|539021|624854", "text": "Trigonocephaly 2" }, { - "baseId": "39724|136471|136486|223621|223643|223651|263398|485734", + "upstreamId": "39724|136471|136486|223621|223643|223651|263398|485734", "text": "Rieger syndrome" }, { - "baseId": "39725|39726|39727|39728|39729|39730|335393|335394|335400|335405|335406|335408|335416|335418|335423|335431|335435|335446|345219|345221|345223|345225|345230|345231|345232|345233|345234|345236|345237|345240|345246|345247|345248|345249|345252|345253|345255|349954|349955|349960|349961|349963|349964|349967|349970|349973|349975|349978|350969|350970|350972|350974|350976|350979|350980|350984|791983|798765|802231|886087|886088|886089|886090|886091|886092|886093|886094|886095|886096|886097|886098|886099|886100|886101|886102|886103|886104|886105|886106|886107|886108|886109|886110", + "upstreamId": "39725|39726|39727|39728|39729|39730|335393|335394|335400|335405|335406|335408|335416|335418|335423|335431|335435|335446|345219|345221|345223|345225|345230|345231|345232|345233|345234|345236|345237|345240|345246|345247|345248|345249|345252|345253|345255|349954|349955|349960|349961|349963|349964|349967|349970|349973|349975|349978|350969|350970|350972|350974|350976|350979|350980|350984|791983|798765|802231|886087|886088|886089|886090|886091|886092|886093|886094|886095|886096|886097|886098|886099|886100|886101|886102|886103|886104|886105|886106|886107|886108|886109|886110", "text": "Multicentric carpo-tarsal osteolysis with or without nephropathy" }, { - "baseId": "39731", + "upstreamId": "39731", "text": "Body mass index quantitative trait locus 10" }, { - "baseId": "39739|106652|106653|106654|106655|135519|135520|135521|135521|135523|135523|135524|135524|135525|135526|205130|206757|206757|206758|206758|206761|206762|206762|237363|237363|270346|271432|271432|271433|279279|279280|279285|279300|279308|279309|279310|279311|279318|279318|279324|279324|279325|279329|279329|279330|279490|279496|279497|279498|279502|279506|279507|279508|279508|279512|279512|279536|279545|279545|279549|280797|280798|280805|280809|280810|280822|280823|280825|280825|280830|280835|280837|280839|280846|280847|280850|280851|280855|280863|280872|280876|280877|280887|280887|280897|280909|280913|280924|280924|280939|280940|280956|280957|364904|364905|425336|427709|427712|447500|447631|447634|447736|447738|447738|447743|447746|498243|515542|515555|556790|557153|558347|558347|627378|627379|627380|650679|690489|690489|690490|696474|696475|696475|696477|777096|780569|801776|823482|823483|823484|863719|863720|863721|863722|863723|863724|863725|863726|863727|863728|863729|863730|863731|863732|863733|863734|863735|863736|863737|863738|863739|863740|863741|863742|863743|863744|863745|863746|863747|863748|863749|863750|863751|863752|863753|863754|863755|863756|863757|863758|863759|865128|865129|865130|921848|930328|930329|940619|941768|941769|941770", + "upstreamId": "39739|106652|106653|106654|106655|135519|135520|135521|135521|135523|135523|135524|135524|135525|135526|205130|206757|206757|206758|206758|206761|206762|206762|237363|237363|270346|271432|271432|271433|279279|279280|279285|279300|279308|279309|279310|279311|279318|279318|279324|279324|279325|279329|279329|279330|279490|279496|279497|279498|279502|279506|279507|279508|279508|279512|279512|279536|279545|279545|279549|280797|280798|280805|280809|280810|280822|280823|280825|280825|280830|280835|280837|280839|280846|280847|280850|280851|280855|280863|280872|280876|280877|280887|280887|280897|280909|280913|280924|280924|280939|280940|280956|280957|364904|364905|425336|427709|427712|447500|447631|447634|447736|447738|447738|447743|447746|498243|515542|515555|556790|557153|558347|558347|627378|627379|627380|650679|690489|690489|690490|696474|696475|696475|696477|777096|780569|801776|823482|823483|823484|863719|863720|863721|863722|863723|863724|863725|863726|863727|863728|863729|863730|863731|863732|863733|863734|863735|863736|863737|863738|863739|863740|863741|863742|863743|863744|863745|863746|863747|863748|863749|863750|863751|863752|863753|863754|863755|863756|863757|863758|863759|865128|865129|865130|921848|930328|930329|940619|941768|941769|941770", "text": "Warburg micro syndrome 2" }, { - "baseId": "39742|39743|204984|208454|430064|469373|469783|532238|532440|574759|647284|647285|715990|776619|846896|846897|846898|846899|928719|928720|928721|938451|938452|940458|950534|950535|958472|958473", + "upstreamId": "39742|39743|204984|208454|430064|469373|469783|532238|532440|574759|647284|647285|715990|776619|846896|846897|846898|846899|928719|928720|928721|938451|938452|940458|950534|950535|958472|958473", "text": "Microcephaly, epilepsy, and diabetes syndrome" }, { - "baseId": "39744|39745|39746|45283|45287|142040|142041|142043|142044|142045|142050|142056|142057|142059|142063|142133|142134|142135|169185|169187|169188|169191|169192|169192|169194|190107|197845|197869|197871|197875|197877|197879|208245|208245|255476|267763|271568|271568|272268|324357|324358|324368|324372|324381|324385|324391|324429|324435|324455|324464|333894|333896|333906|333918|333920|333921|333964|333965|333966|333969|333978|333980|333982|333983|333984|333987|340665|340672|340673|340679|340680|340683|340685|340687|340692|340721|340724|340727|340730|340731|342053|342059|342063|342072|342073|342074|342081|342085|342098|342107|342108|342116|342135|342137|342138|342139|342140|342151|342155|342156|342159|342160|342164|342168|373941|429772|429774|429774|614127|620536|788894|874751|874752|874753|874754|874755|874757|874758|874759|874760|874771|874773|874774|874775|874776|874777|874778|874779|874780|874781|874782|874783|874784|874785|874786|874787|874788|874789|876626", + "upstreamId": "39744|39745|39746|45283|45287|142040|142041|142043|142044|142045|142050|142056|142057|142059|142063|142133|142134|142135|169185|169187|169188|169191|169192|169192|169194|190107|197845|197869|197871|197875|197877|197879|208245|208245|255476|267763|271568|271568|272268|324357|324358|324368|324372|324381|324385|324391|324429|324435|324455|324464|333894|333896|333906|333918|333920|333921|333964|333965|333966|333969|333978|333980|333982|333983|333984|333987|340665|340672|340673|340679|340680|340683|340685|340687|340692|340721|340724|340727|340730|340731|342053|342059|342063|342072|342073|342074|342081|342085|342098|342107|342108|342116|342135|342137|342138|342139|342140|342151|342155|342156|342159|342160|342164|342168|373941|429772|429774|429774|614127|620536|788894|874751|874752|874753|874754|874755|874757|874758|874759|874760|874771|874773|874774|874775|874776|874777|874778|874779|874780|874781|874782|874783|874784|874785|874786|874787|874788|874789|876626", "text": "Lissencephaly 4" }, { - "baseId": "39747", + "upstreamId": "39747", "text": "Amyloidosis, primary localized cutaneous, 2" }, { - "baseId": "39748|191078|194482|265506|268417|270851|305785|309776|309787|315028|315031|315179|315180|380289|407449|426674|428861|438397|438397|457948|457951|458520|458526|458595|458993|458997|523697|524006|524009|524009|524015|524280|524288|563056|568068|568083|568086|588769|637372|637373|637374|637375|637376|637377|637378|637379|637380|637381|637382|637383|700637|723173|766887|819978|819979|819980|819981|835022|835023|835024|835025|851700|852154|925254|925255|925256|925257|934412|934413|934414|934415|946172|946173|946174|955495|955496|955497|955498|959901", + "upstreamId": "39748|191078|194482|265506|268417|270851|305785|309776|309787|315028|315031|315179|315180|380289|407449|426674|428861|438397|438397|457948|457951|458520|458526|458595|458993|458997|523697|524006|524009|524009|524015|524280|524288|563056|568068|568083|568086|588769|637372|637373|637374|637375|637376|637377|637378|637379|637380|637381|637382|637383|700637|723173|766887|819978|819979|819980|819981|835022|835023|835024|835025|851700|852154|925254|925255|925256|925257|934412|934413|934414|934415|946172|946173|946174|955495|955496|955497|955498|959901", "text": "Febrile seizures, familial, 11" }, { - "baseId": "39748|88281|134293|134294|134295|189029|194482|265506|268417|270851|305779|305785|305787|309773|309775|309776|309787|309796|309797|309802|315026|315028|315031|315032|315156|315169|315179|315180|315183|315184|380289|380290|430963|438397|438397|458595|524009|524280|637382|700636|899964|899965|899966|899967|899968|899969|899970|899971|899972|899973|899974|899975|900512", + "upstreamId": "39748|88281|134293|134294|134295|189029|194482|265506|268417|270851|305779|305785|305787|309773|309775|309776|309787|309796|309797|309802|315026|315028|315031|315032|315156|315169|315179|315180|315183|315184|380289|380290|430963|438397|438397|458595|524009|524280|637382|700636|899964|899965|899966|899967|899968|899969|899970|899971|899972|899973|899974|899975|900512", "text": "Epilepsy, familial temporal lobe, 5" }, { - "baseId": "39753|39754|39755|496287|496724|553254|553255|615788|683136", + "upstreamId": "39753|39754|39755|496287|496724|553254|553255|615788|683136", "text": "Deafness, autosomal recessive 42" }, { - "baseId": "39760|99438|168891|168893|168894|168895|168897|181433|194340|195924|207936|223671|254410|316026|316027|316028|316032|323289|323290|323292|323293|329378|330555|330564|359929|461608|620428|622897|622898|656105|684285|818295|869272|869273|869274|869275|869276|869277|869278|869279|869280|869281|869282", + "upstreamId": "39760|99438|168891|168893|168894|168895|168897|181433|194340|195924|207936|223671|254410|316026|316027|316028|316032|323289|323290|323292|323293|329378|330555|330564|359929|461608|620428|622897|622898|656105|684285|818295|869272|869273|869274|869275|869276|869277|869278|869279|869280|869281|869282", "text": "Joubert syndrome 13" }, { - "baseId": "39764|153815|153816|153817|237630", + "upstreamId": "39764|153815|153816|153817|237630", "text": "Persistent hyperplastic primary vitreous, autosomal recessive" }, { - "baseId": "39766|172105|172106|172107|172108|172109|208802|430568|430587|486777|508942|508943|508944|508945|512971|512972|622485|681833|681834|792083|799021|939350|966020|966021|966022|980972", + "upstreamId": "39766|172105|172106|172107|172108|172109|208802|430568|430587|486777|508942|508943|508944|508945|512971|512972|622485|681833|681834|792083|799021|939350|966020|966021|966022|980972", "text": "Microcephaly and chorioretinopathy, autosomal recessive, 1" }, { - "baseId": "39767", + "upstreamId": "39767", "text": "Mental retardation, autosomal recessive 14" }, { - "baseId": "39768|39769|39770|39771|39772|200982|227298|300242|300247|300248|302996|302997|302998|302999|303004|303005|307453|307456|307459|307682|362145|538997|622977|622979|622982|622986|735682|765702|896359|896360|896361|896362|896363|896364|896365|896366|896367|896368|896369|896370", + "upstreamId": "39768|39769|39770|39771|39772|200982|227298|300242|300247|300248|302996|302997|302998|302999|303004|303005|307453|307456|307459|307682|362145|538997|622977|622979|622982|622986|735682|765702|896359|896360|896361|896362|896363|896364|896365|896366|896367|896368|896369|896370", "text": "Treacher Collins syndrome 3" }, { - "baseId": "39768|39772|200977|200978|200979|200980|200981|200982|207417|227298|264263|264293|269895|307675|362145|362145|362146|513282|538997|622974|622975|622976|622977|622978|622979|622980|622981|622982|622982|622983|622984|622985|622986|622987|622988", + "upstreamId": "39768|39772|200977|200978|200979|200980|200981|200982|207417|227298|264263|264293|269895|307675|362145|362145|362146|513282|538997|622974|622975|622976|622977|622978|622979|622980|622981|622982|622982|622983|622984|622985|622986|622987|622988", "text": "Leukodystrophy, hypomyelinating, 11" }, { - "baseId": "39773|176085|222386|230536|241874|241875|255045|330332|399596|399716|400252|400253|463472|464471|528712|566608|642675|642676|642677|642678|652421|652875|730950|936705|940312", + "upstreamId": "39773|176085|222386|230536|241874|241875|255045|330332|399596|399716|400252|400253|463472|464471|528712|566608|642675|642676|642677|642678|652421|652875|730950|936705|940312", "text": "Ciliary dyskinesia, primary, 16" }, { - "baseId": "39779|172136|227466|538358|623274", + "upstreamId": "39779|172136|227466|538358|623274", "text": "Myopia, high, with cataract and vitreoretinal degeneration" }, { - "baseId": "39780|39781|39782|39784|39785|39786|39787|39788|140021|140022|205750|205751|211298|211299|211299|211306|211307|211307|211309|211313|211313|302005|302006|302009|302013|302014|302016|302021|302022|305180|305185|305194|305195|305198|305202|305203|305204|309887|309889|309890|309893|309893|309896|309896|309901|309916|309916|309917|309918|309923|309924|309925|309926|309929|309931|309936|309948|309964|309970|310017|310025|368952|369244|369512|456416|457000|481332|481333|501886|514551|522605|608809|635793|692166|692166|695352|722363|788812|792767|861593|897558|897559|897560|897561|897562|897563|897564|897565|897566|897567|897568|897569|897570|897571|897572|897573|897574|897575|897576|897577|897578|897579|900320|900321|924716|975666|975667", + "upstreamId": "39780|39781|39782|39784|39785|39786|39787|39788|140021|140022|205750|205751|211298|211299|211299|211306|211307|211307|211309|211313|211313|302005|302006|302009|302013|302014|302016|302021|302022|305180|305185|305194|305195|305198|305202|305203|305204|309887|309889|309890|309893|309893|309896|309896|309901|309916|309916|309917|309918|309923|309924|309925|309926|309929|309931|309936|309948|309964|309970|310017|310025|368952|369244|369512|456416|457000|481332|481333|501886|514551|522605|608809|635793|692166|692166|695352|722363|788812|792767|861593|897558|897559|897560|897561|897562|897563|897564|897565|897566|897567|897568|897569|897570|897571|897572|897573|897574|897575|897576|897577|897578|897579|900320|900321|924716|975666|975667", "text": "Sengers syndrome" }, { - "baseId": "39792|39793|39794|98153|98154|246951|513539|513540|918847|918848|961767", + "upstreamId": "39792|39793|39794|98153|98154|246951|513539|513540|918847|918848|961767", "text": "D-Glyceric aciduria" }, { - "baseId": "39795|39796|39797|39799|39801|134154|237292|252622|269511|301846|301867|301869|301878|301888|301889|301891|301900|301903|301908|301912|301913|301919|301922|301926|301927|301928|301933|301934|301935|301936|301944|305030|305033|305034|305037|305038|305049|305053|305054|305055|309684|309692|309694|309695|309696|309699|309700|309701|309708|309711|309720|309721|309731|309740|309846|309850|309851|309852|309856|309859|309860|309861|309862|309863|309864|309865|309871|368934|370844|425732|456415|502216|523062|566495|582788|620250|620251|635786|679755|692159|750428|779424|782794|833143|833144|833145|833146|833147|833148|852068|897422|897423|897424|897425|897426|897427|897428|897429|897430|897431|897432|897433|897434|897435|897436|897437|897438|897439|897440|897441|897442|897443|897444|897445|897446|897447|897448|897449|897450|897451|897452|897453|897454|897455|897456|897457|897458|897459|897460|897461|897462|897463|897464|897465|897466|897467|897468|897469|897470|897471|897472|897473|897474|897475|897476|897477|897478|900313|924704|924705|933690|933691|933692|933693|945431|945432|945433|945434|945435|945436|945437|945438|945439|955061|959836|959837", + "upstreamId": "39795|39796|39797|39799|39801|134154|237292|252622|269511|301846|301867|301869|301878|301888|301889|301891|301900|301903|301908|301912|301913|301919|301922|301926|301927|301928|301933|301934|301935|301936|301944|305030|305033|305034|305037|305038|305049|305053|305054|305055|309684|309692|309694|309695|309696|309699|309700|309701|309708|309711|309720|309721|309731|309740|309846|309850|309851|309852|309856|309859|309860|309861|309862|309863|309864|309865|309871|368934|370844|425732|456415|502216|523062|566495|582788|620250|620251|635786|679755|692159|750428|779424|782794|833143|833144|833145|833146|833147|833148|852068|897422|897423|897424|897425|897426|897427|897428|897429|897430|897431|897432|897433|897434|897435|897436|897437|897438|897439|897440|897441|897442|897443|897444|897445|897446|897447|897448|897449|897450|897451|897452|897453|897454|897455|897456|897457|897458|897459|897460|897461|897462|897463|897464|897465|897466|897467|897468|897469|897470|897471|897472|897473|897474|897475|897476|897477|897478|900313|924704|924705|933690|933691|933692|933693|945431|945432|945433|945434|945435|945436|945437|945438|945439|955061|959836|959837", "text": "Joubert syndrome 15" }, { - "baseId": "39798|39858", + "upstreamId": "39798|39858", "text": "Joubert syndrome 12/15, digenic" }, { - "baseId": "39799|237292|301935|301936|970299|970300|970301|970302", + "upstreamId": "39799|237292|301935|301936|970299|970300|970301|970302", "text": "Familial Autism Spectrum Disorder" }, { - "baseId": "39806", + "upstreamId": "39806", "text": "N-acetylaspartate deficiency" }, { - "baseId": "39814|39815|195743|490784|514230|626133|918792", + "upstreamId": "39814|39815|195743|490784|514230|626133|918792", "text": "Adams-Oliver syndrome 1" }, { - "baseId": 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+ "upstreamId": 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"text": "Charcot-Marie-Tooth disease type 2P" }, { - "baseId": "39818|135979|206755", + "upstreamId": "39818|135979|206755", "text": "Spinocerebellar ataxia, autosomal recessive 11" }, { - "baseId": "39836|44147|44148|44149|44150|44151|143267|143268|143269|578552|861163", + "upstreamId": "39836|44147|44148|44149|44150|44151|143267|143268|143269|578552|861163", "text": "Amelogenesis imperfecta type 1G" }, { - "baseId": "39842|39843|39844|39845|39846|46862|46965|46966|46967|46968|46969|279258|279262|279263|279268|279270|279277|279477|279483|279485|280782|280783|280787|280788|280789|280791|280793|280794|280820|280821|280831|280832|280833|280834|280838|280841|280843|362420|362421|362422|362423|863702|863703|863704|863705|863706|863707|863708|863709|863710|863711|863712|863713|863714|863715|863716|863717|863718|865127", + "upstreamId": "39842|39843|39844|39845|39846|46862|46965|46966|46967|46968|46969|279258|279262|279263|279268|279270|279277|279477|279483|279485|280782|280783|280787|280788|280789|280791|280793|280794|280820|280821|280831|280832|280833|280834|280838|280841|280843|362420|362421|362422|362423|863702|863703|863704|863705|863706|863707|863708|863709|863710|863711|863712|863713|863714|863715|863716|863717|863718|865127", "text": "Hypermanganesemia with dystonia 1" }, { - "baseId": 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+ "upstreamId": "39847|39848|39849|205298|205782|208317|214453|214544|225887|243899|244063|245211|260139|260140|260852|264747|264749|264823|264834|264988|361224|362386|362427|362428|363822|363862|374759|375638|409796|409797|415528|422128|424663|424664|429885|429886|429890|434655|434772|438585|439224|439351|441931|441932|441933|445668|466885|466891|481321|482111|482112|492706|512246|512868|514705|530704|535707|536193|536480|536920|538460|538461|550370|550627|552191|552192|552193|552194|552196|552197|567551|568458|568459|569821|574206|574209|577580|577582|577583|577585|577586|577589|577595|577598|577599|577601|580058|580076|580078|580086|580112|580113|580133|580150|580155|580159|580165|580171|580174|580193|580197|580219|580220|580225|580232|580252|580259|580398|580400|580410|580421|580457|611404|611422|613052|621983|622437|645134|645135|645136|645137|645138|645139|645140|645141|645142|653892|654139|677454|678946|682827|682828|682829|682830|688676|688677|690150|693953|693955|693956|693958|693959|693960|693961|693962|693964|693965|693966|693968|693969|695708|695709|703898|703900|703901|703904|703905|703907|703909|703910|703914|703915|703917|703920|726943|731122|740510|740521|755550|755556|776216|785437|785439|798706|798707|798708|800673|805107|805904|805909|805916|816487|822122|822123|844491|844492|844493|844494|844495|844496|844497|858573|860317|919684|919685|919686|919687|919688|919689|919690|919691|928006|928007|928008|928009|937661|937662|949631|949632|949633|949634|949635|949636|949637|957922|957923|957924|960859|961626|961627|963812|963821|964458|964459|964460|964461|964462|967281|969771|969773|969863|969864|969865|969866|969867|969868|969869|969870|969871|969872|969873|969874|969876|969879|971058|972972|976668|980957", "text": "KBG syndrome" }, { - "baseId": "39850|39851|140827|193688|203812|203814|203815|203817|203818|203819|336301|336304|336307|336310|336312|336318|336320|336322|336324|336325|336328|336329|336335|336336|336345|336348|336351|336357|336369|336371|336372|336378|336379|336383|346019|346027|346031|346032|346034|346035|346039|346045|346049|346051|346057|346063|346066|346068|346083|346085|346091|346092|346093|346098|346102|350384|350385|350388|350389|350392|350393|350396|350397|350400|350401|350404|350405|350407|350408|350413|350419|350420|350423|350424|350427|350428|350430|350431|351417|351418|351424|351425|351427|351430|351431|351434|351435|351438|351439|351442|351443|351446|351447|351450|351451|351454|351455|351457|351460|351461|351464|351465|351466|351467|351470|677069|886508|886509|886510|886511|886512|886513|886514|886515|886516|886517|886518|886519|886520|886521|886522|886523|886524|886525|886526|886527|886528|886529|886530|886531|886532|886533|886534|886535|886536|886537|886538|886539|886540|886541|886542|886543|886544|886545|886546|887483|887484|887485", + "upstreamId": "39850|39851|140827|193688|203812|203814|203815|203817|203818|203819|336301|336304|336307|336310|336312|336318|336320|336322|336324|336325|336328|336329|336335|336336|336345|336348|336351|336357|336369|336371|336372|336378|336379|336383|346019|346027|346031|346032|346034|346035|346039|346045|346049|346051|346057|346063|346066|346068|346083|346085|346091|346092|346093|346098|346102|350384|350385|350388|350389|350392|350393|350396|350397|350400|350401|350404|350405|350407|350408|350413|350419|350420|350423|350424|350427|350428|350430|350431|351417|351418|351424|351425|351427|351430|351431|351434|351435|351438|351439|351442|351443|351446|351447|351450|351451|351454|351455|351457|351460|351461|351464|351465|351466|351467|351470|677069|886508|886509|886510|886511|886512|886513|886514|886515|886516|886517|886518|886519|886520|886521|886522|886523|886524|886525|886526|886527|886528|886529|886530|886531|886532|886533|886534|886535|886536|886537|886538|886539|886540|886541|886542|886543|886544|886545|886546|887483|887484|887485", "text": "Neuronal ceroid lipofuscinosis 4B" }, { - "baseId": "39852|134861|267315|268160|270798|373810|445468|513354|513354|919601|919602", + "upstreamId": "39852|134861|267315|268160|270798|373810|445468|513354|513354|919601|919602", "text": "Hydrolethalus syndrome 2" }, { - "baseId": "39852|39853|39854|39855|39856|102542|102544|102545|102546|102548|102549|102550|134850|134851|134852|134853|134854|134855|134856|134857|134858|134859|134860|134861|134862|134863|134864|141762|191111|191735|192158|192159|192160|192162|193763|195060|195061|205178|214348|214349|247107|255392|255399|255402|255403|255405|255406|255410|266613|267315|268160|268160|268262|268897|270531|270798|270798|271178|271632|271873|323529|323530|323534|323539|323540|323547|323548|323550|323552|323555|323559|323561|323566|333276|333280|333286|333288|333290|333293|340040|340042|340044|340049|340052|340053|340055|340058|340059|340062|341458|341460|341461|341463|341464|341467|341468|341471|341485|341488|341492|341500|341501|341502|360982|373810|417073|417074|418968|418969|418970|445468|464622|465404|465405|490888|505304|505511|513354|529134|529136|529144|529152|529156|529460|567339|567340|567345|569211|573582|578521|587931|587933|587935|620532|643620|643621|643622|643623|643624|643625|643626|643627|726331|785055|842797|842798|874268|874269|874270|874271|874272|874273|874274|874275|874276|874277|874278|874279|874280|874281|874282|874283|874284|874285|874286|874287|874288|874289|874290|874291|874292|874293|874294|874295|874296|874297|874298|874299|874300|874301|874302|874303|874304|874305|874306|874307|874308|876589|876590|876591|906265|927457|927458|937114|937115|949057|957538|957539|957540|971031", + "upstreamId": "39852|39853|39854|39855|39856|102542|102544|102545|102546|102548|102549|102550|134850|134851|134852|134853|134854|134855|134856|134857|134858|134859|134860|134861|134862|134863|134864|141762|191111|191735|192158|192159|192160|192162|193763|195060|195061|205178|214348|214349|247107|255392|255399|255402|255403|255405|255406|255410|266613|267315|268160|268160|268262|268897|270531|270798|270798|271178|271632|271873|323529|323530|323534|323539|323540|323547|323548|323550|323552|323555|323559|323561|323566|333276|333280|333286|333288|333290|333293|340040|340042|340044|340049|340052|340053|340055|340058|340059|340062|341458|341460|341461|341463|341464|341467|341468|341471|341485|341488|341492|341500|341501|341502|360982|373810|417073|417074|418968|418969|418970|445468|464622|465404|465405|490888|505304|505511|513354|529134|529136|529144|529152|529156|529460|567339|567340|567345|569211|573582|578521|587931|587933|587935|620532|643620|643621|643622|643623|643624|643625|643626|643627|726331|785055|842797|842798|874268|874269|874270|874271|874272|874273|874274|874275|874276|874277|874278|874279|874280|874281|874282|874283|874284|874285|874286|874287|874288|874289|874290|874291|874292|874293|874294|874295|874296|874297|874298|874299|874300|874301|874302|874303|874304|874305|874306|874307|874308|876589|876590|876591|906265|927457|927458|937114|937115|949057|957538|957539|957540|971031", "text": "Acrocallosal syndrome" }, { - "baseId": "39857|39858", + "upstreamId": "39857|39858", "text": "Joubert syndrome 12" }, { - "baseId": "39860|253624|253627|253628|253629|253630|253631|253632|309015|309024|309026|309027|309034|309035|309039|309041|313773|313775|313776|313777|313789|313791|313793|319587|319589|319598|319599|319601|319602|320178|320182|320183|320184|320186|320190|320191|414474|418978|418979|459962|459963|460369|524827|525060|701100|788838|836460|859771|902603|902604|902605|902606|902607|902608|902609|902610|902611|902612|902613|902614|902615|902616|902617|902618|902619|902620|902621|902622|902623|902624|902625|902626|902627|902628|902629|903450|903451|903452|903453|946740|946741|946742", + "upstreamId": "39860|253624|253627|253628|253629|253630|253631|253632|309015|309024|309026|309027|309034|309035|309039|309041|313773|313775|313776|313777|313789|313791|313793|319587|319589|319598|319599|319601|319602|320178|320182|320183|320184|320186|320190|320191|414474|418978|418979|459962|459963|460369|524827|525060|701100|788838|836460|859771|902603|902604|902605|902606|902607|902608|902609|902610|902611|902612|902613|902614|902615|902616|902617|902618|902619|902620|902621|902622|902623|902624|902625|902626|902627|902628|902629|903450|903451|903452|903453|946740|946741|946742", "text": "Cataract, autosomal recessive congenital 4" }, { - "baseId": "39861|39862|40202|40203|40204|227089|227090|227091|227092|229569|252658|252660|265509|266184|266559|266777|266778|267640|267980|269065|270280|270502|270682|270697|272428|272684|273113|273215|274406|274760|302296|302297|302299|302314|302318|302320|302323|302325|302328|302331|302334|305507|305508|305522|305526|305543|305551|305553|305555|310338|310339|310342|310348|310367|310369|310440|310446|310467|310468|310470|310473|310479|310480|310481|369415|371078|456511|456903|489480|491727|522506|522739|523163|523166|561425|561429|561432|566632|584394|585772|622886|635958|635959|635960|635961|635962|635963|635964|692189|692191|710895|736043|766198|790714|793208|818720|833385|833386|833387|833388|852343|897736|897737|897738|897739|897740|897742|897743|897744|897745|897746|897747|897748|897749|897750|897751|897752|897753|897754|897755|919096|924775|933799|933800|945540|945541|959844", + "upstreamId": "39861|39862|40202|40203|40204|227089|227090|227091|227092|229569|252658|252660|265509|266184|266559|266777|266778|267640|267980|269065|270280|270502|270682|270697|272428|272684|273113|273215|274406|274760|302296|302297|302299|302314|302318|302320|302323|302325|302328|302331|302334|305507|305508|305522|305526|305543|305551|305553|305555|310338|310339|310342|310348|310367|310369|310440|310446|310467|310468|310470|310473|310479|310480|310481|369415|371078|456511|456903|489480|491727|522506|522739|523163|523166|561425|561429|561432|566632|584394|585772|622886|635958|635959|635960|635961|635962|635963|635964|692189|692191|710895|736043|766198|790714|793208|818720|833385|833386|833387|833388|852343|897736|897737|897738|897739|897740|897742|897743|897744|897745|897746|897747|897748|897749|897750|897751|897752|897753|897754|897755|919096|924775|933799|933800|945540|945541|959844", "text": "Limb-girdle muscular dystrophy, type 1E" }, { - "baseId": "39864|190006|190007|190008|222802|222803|243312|243314|243315|243316|403200|403206|403211|403250|403253|403661|403688|403694|403700|468536|468544|468546|468548|469089|469905|469907|469922|469924|470510|470521|487993|487994|487995|488044|508917|508918|510797|532763|532774|532830|532831|570278|570580|570583|570589|572286|572966|574902|574904|647785|647786|647787|647788|647789|647790|647791|647792|647793|647794|653156|653608|688973|688974|688977|694349|821243|847410|847411|847412|928891|938610|938611|938612|940476|950709|950710|950711|958566|958567", + "upstreamId": "39864|190006|190007|190008|222802|222803|243312|243314|243315|243316|403200|403206|403211|403250|403253|403661|403688|403694|403700|468536|468544|468546|468548|469089|469905|469907|469922|469924|470510|470521|487993|487994|487995|488044|508917|508918|510797|532763|532774|532830|532831|570278|570580|570583|570589|572286|572966|574902|574904|647785|647786|647787|647788|647789|647790|647791|647792|647793|647794|653156|653608|688973|688974|688977|694349|821243|847410|847411|847412|928891|938610|938611|938612|940476|950709|950710|950711|958566|958567", "text": "Familial hypertrophic cardiomyopathy 19" }, { - "baseId": "39865|39866|39867|48498|153784|169195|169201|194444|227374|255679|255681|325059|325070|334737|341193|342699|342729|553393|609008|622910|677449|791582|919643|971045|971046|976664", + "upstreamId": "39865|39866|39867|48498|153784|169195|169201|194444|227374|255679|255681|325059|325070|334737|341193|342699|342729|553393|609008|622910|677449|791582|919643|971045|971046|976664", "text": "Floating-Harbor syndrome" }, { - "baseId": "39870|97545|428830", + "upstreamId": "39870|97545|428830", "text": "Hereditary spastic paraplegia 18" }, { - "baseId": "39871|39872|39873|39874|39875|39876|39878|373928|426773|429180|626204|919331", + "upstreamId": "39871|39872|39873|39874|39875|39876|39878|373928|426773|429180|626204|919331", "text": "Megalencephalic leukoencephalopathy with subcortical cysts 2a" }, { - "baseId": "39876|39878|426773|429180|513438|626204", + "upstreamId": "39876|39878|426773|429180|513438|626204", "text": "Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation" }, { - "baseId": "39877", + "upstreamId": "39877", "text": "Megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with mental retardation" }, { - "baseId": "39883|39884|39885|167471|205154", + "upstreamId": "39883|39884|39885|167471|205154", "text": "Hydatidiform mole, recurrent, 2" }, { - "baseId": "39886|792750", + "upstreamId": "39886|792750", "text": "Kahrizi syndrome" }, { - "baseId": "39888|257138|672017|800408", + "upstreamId": "39888|257138|672017|800408", "text": "Meckel syndrome, type 10" }, { - "baseId": "39892|39892|39893|39894|102031|102032|136094|136095|136096|136097|136098|136099|136100|136101|136102|136103|136104|136105|136106|136107|191595|191595|192692|192938|195418|212121|221116|221117|238377|250324|250329|250331|250336|250337|265473|282446|282447|282453|282454|282464|282465|282470|282471|282473|282474|282491|282492|283108|283111|283114|283117|283127|283133|283141|283158|283161|283162|284705|284706|284708|284714|284715|284722|284724|284726|284730|284731|284733|284745|284746|284755|284762|284765|284766|285173|285174|285177|285178|285180|285181|285182|285186|285187|285191|285192|365832|440055|449094|486832|498877|499070|516603|628800|683414|685891|685895|685896|690860|881322|881323|881324|881325|881326|881327|881328|881329|881330|881331|881332|881333|881334|881335|881336|881337|881338|881339|881340|881341|881342|881343|881344|881345|881346|881347|882822|882823|906279|980839", + "upstreamId": "39892|39892|39893|39894|102031|102032|136094|136095|136096|136097|136098|136099|136100|136101|136102|136103|136104|136105|136106|136107|191595|191595|192692|192938|195418|212121|221116|221117|238377|250324|250329|250331|250336|250337|265473|282446|282447|282453|282454|282464|282465|282470|282471|282473|282474|282491|282492|283108|283111|283114|283117|283127|283133|283141|283158|283161|283162|284705|284706|284708|284714|284715|284722|284724|284726|284730|284731|284733|284745|284746|284755|284762|284765|284766|285173|285174|285177|285178|285180|285181|285182|285186|285187|285191|285192|365832|440055|449094|486832|498877|499070|516603|628800|683414|685891|685895|685896|690860|881322|881323|881324|881325|881326|881327|881328|881329|881330|881331|881332|881333|881334|881335|881336|881337|881338|881339|881340|881341|881342|881343|881344|881345|881346|881347|882822|882823|906279|980839", "text": "Nephronophthisis 12" }, { - "baseId": "39892|39895|39896|102031|102032|136094|136095|136096|136097|136098|136099|136100|136101|136102|136103|136104|136105|136106|136107|191595|191595|192692|192938|195418|212121|221116|221117|238377|250324|250329|250331|250336|250337|265473|282446|282447|282453|282454|282464|282465|282470|282471|282473|282474|282491|282492|283108|283111|283114|283117|283127|283133|283141|283158|283161|283162|284705|284706|284708|284714|284715|284722|284724|284726|284730|284731|284733|284745|284746|284755|284762|284765|284766|285173|285174|285177|285178|285180|285181|285182|285186|285187|285191|285192|365832|440054|440055|449094|498877|499070|516603|536039|628800|683414|685891|685895|685896|690860|881322|881323|881324|881325|881326|881327|881328|881329|881330|881331|881332|881333|881334|881335|881336|881337|881338|881339|881340|881341|881342|881343|881344|881345|881346|881347|882822|882823", + "upstreamId": "39892|39895|39896|102031|102032|136094|136095|136096|136097|136098|136099|136100|136101|136102|136103|136104|136105|136106|136107|191595|191595|192692|192938|195418|212121|221116|221117|238377|250324|250329|250331|250336|250337|265473|282446|282447|282453|282454|282464|282465|282470|282471|282473|282474|282491|282492|283108|283111|283114|283117|283127|283133|283141|283158|283161|283162|284705|284706|284708|284714|284715|284722|284724|284726|284730|284731|284733|284745|284746|284755|284762|284765|284766|285173|285174|285177|285178|285180|285181|285182|285186|285187|285191|285192|365832|440054|440055|449094|498877|499070|516603|536039|628800|683414|685891|685895|685896|690860|881322|881323|881324|881325|881326|881327|881328|881329|881330|881331|881332|881333|881334|881335|881336|881337|881338|881339|881340|881341|881342|881343|881344|881345|881346|881347|882822|882823", "text": "Asphyxiating thoracic dystrophy 4" }, { - "baseId": "39897|39898|139916|139917|139918|139919|139920|139921|139923|139925|139927|139928|139931|139932|139933|139934|139935|152754|152756|199785|211222|211225|211227|211228|211232|211233|211238|211239|211242|236962|266174|300333|300334|300337|300352|300354|300361|300364|300368|300369|300380|300383|303153|303154|303155|303157|303161|303162|303163|303164|303176|303177|303180|303181|303217|307653|307665|307670|307684|307686|307688|307693|307695|307697|307699|307704|307710|307720|307725|307731|307732|307734|307823|307830|307832|307847|307848|307855|307858|307870|307877|307881|307882|307892|307896|307903|307906|370455|481329|502003|612277|620233|620790|620791|744284|798575|861605|896464|896465|896466|896467|896468|896469|896470|896471|896472|896473|896474|896475|896476|896477|896478|896479|896480|896481|896482|896483|896484|896485|896486|896487|896488|896489|896490|896491|896492|896493|896494|896495|896496|896497|900235|900236|919033|919034", + "upstreamId": "39897|39898|139916|139917|139918|139919|139920|139921|139923|139925|139927|139928|139931|139932|139933|139934|139935|152754|152756|199785|211222|211225|211227|211228|211232|211233|211238|211239|211242|236962|266174|300333|300334|300337|300352|300354|300361|300364|300368|300369|300380|300383|303153|303154|303155|303157|303161|303162|303163|303164|303176|303177|303180|303181|303217|307653|307665|307670|307684|307686|307688|307693|307695|307697|307699|307704|307710|307720|307725|307731|307732|307734|307823|307830|307832|307847|307848|307855|307858|307870|307877|307881|307882|307892|307896|307903|307906|370455|481329|502003|612277|620233|620790|620791|744284|798575|861605|896464|896465|896466|896467|896468|896469|896470|896471|896472|896473|896474|896475|896476|896477|896478|896479|896480|896481|896482|896483|896484|896485|896486|896487|896488|896489|896490|896491|896492|896493|896494|896495|896496|896497|900235|900236|919033|919034", "text": "Combined oxidative phosphorylation deficiency 8" }, { - "baseId": "39897|152754", + "upstreamId": "39897|152754", "text": "Pulmonary hypoplasia" }, { - "baseId": "39909|39910|39911|39912|39913|134177|134178|134179|257714|257716|338604|338607|338609|338612|338617|338620|348178|348181|348182|348184|351843|351844|351846|351847|351849|351851|351853|351855|352686|352687|352688|352689|352690|377616|378767|378861|379872|379875|411043|411044|411046|442355|446429|470345|470346|470354|471601|471604|471986|534370|534844|538502|552235|572031|572036|572040|572044|573420|573424|574153|574156|574157|620697|622486|622487|626288|626289|649547|649548|649549|649550|649551|649552|649553|649554|653607|677067|694752|695884|695886|706020|773639|773641|821473|849452|849453|849454|849455|849456|849457|849458|849459|849460|852447|891510|891511|891512|891513|891857|891858|891859|891860|919960|929511|939365|951532|951533|959129|959130|959131|959132", + "upstreamId": "39909|39910|39911|39912|39913|134177|134178|134179|257714|257716|338604|338607|338609|338612|338617|338620|348178|348181|348182|348184|351843|351844|351846|351847|351849|351851|351853|351855|352686|352687|352688|352689|352690|377616|378767|378861|379872|379875|411043|411044|411046|442355|446429|470345|470346|470354|471601|471604|471986|534370|534844|538502|552235|572031|572036|572040|572044|573420|573424|574153|574156|574157|620697|622486|622487|626288|626289|649547|649548|649549|649550|649551|649552|649553|649554|653607|677067|694752|695884|695886|706020|773639|773641|821473|849452|849453|849454|849455|849456|849457|849458|849459|849460|852447|891510|891511|891512|891513|891857|891858|891859|891860|919960|929511|939365|951532|951533|959129|959130|959131|959132", "text": "Megaconial type congenital muscular dystrophy" }, { - "baseId": "39917|39918|39919|39920|39921|39922|246971|251616|251618|251619|251621|251622|251623|251624|251625|251626|251627|251628|251629|251630|251631|251632|251634|251635|251636|251637|251638|295112|295116|295119|295124|295126|295127|295138|295140|295141|295142|295149|295150|295154|295155|295156|295161|295163|295164|295165|295172|295173|295180|295182|295192|295193|295196|295202|295204|296949|296950|296951|296952|296953|296963|296964|296965|296966|296967|296973|296986|296989|296990|296992|296999|297002|297003|297005|297006|300567|300568|300580|300611|300612|300615|300632|300633|300648|300654|300656|300657|300658|300667|300671|300673|300732|300736|300744|300745|300749|300753|300754|300755|300770|300772|300784|300785|300794|300796|300797|300798|300827|300831|300832|300833|300835|300836|300837|300839|300852|300853|300855|300856|361182|367859|367867|368122|368209|368210|368212|368229|368231|369509|369514|406612|406615|406617|421517|454199|454201|454205|454336|454340|454342|454351|454367|454686|454687|454690|454692|454694|454701|454986|454990|455000|501112|501116|501118|501255|501265|513275|520451|520452|520460|520468|520472|520475|520685|520688|520697|520699|520700|520873|520875|520876|520968|520969|520971|559985|559987|559989|559991|559993|559995|559997|559999|560100|560102|560104|560106|562591|564447|564451|564455|564456|632913|632914|632915|632916|632917|632918|632919|632920|632921|632922|632923|632924|632925|632926|632927|632928|632929|632930|632931|632932|632933|632934|632935|632936|632937|632938|632939|632940|632941|632942|632943|651272|691668|691669|698758|709604|721191|734825|749180|749183|759434|764780|775129|782116|795614|829896|829897|829898|829899|829900|829901|829902|829903|829904|829905|829906|829907|829908|829909|829910|829911|829912|829913|829914|829915|829916|829917|829918|829919|829920|829921|829922|829923|829924|829925|829926|829927|829928|829929|829930|892749|892750|892751|892752|892753|892754|892755|892756|892757|892758|892759|892760|892761|892762|892763|892764|892765|892766|892767|892768|892769|892770|892771|892772|892773|892774|892775|892776|892777|892778|892779|892780|892781|892782|892783|892784|892785|892786|892787|892788|892789|892790|892791|892792|892793|892794|892795|892796|892797|892798|892799|892800|892801|892802|892803|892804|892805|892806|892807|892808|892809|892810|892811|892812|892813|892814|892815|896023|896024|896025|923740|923741|923742|923743|923744|923745|923746|923747|932598|932599|932600|932601|932602|932603|932604|944273|944274|944275|944276|944277|944278|944279|944280|944281|953933|953934|953935|960546|960547", + "upstreamId": "39917|39918|39919|39920|39921|39922|246971|251616|251618|251619|251621|251622|251623|251624|251625|251626|251627|251628|251629|251630|251631|251632|251634|251635|251636|251637|251638|295112|295116|295119|295124|295126|295127|295138|295140|295141|295142|295149|295150|295154|295155|295156|295161|295163|295164|295165|295172|295173|295180|295182|295192|295193|295196|295202|295204|296949|296950|296951|296952|296953|296963|296964|296965|296966|296967|296973|296986|296989|296990|296992|296999|297002|297003|297005|297006|300567|300568|300580|300611|300612|300615|300632|300633|300648|300654|300656|300657|300658|300667|300671|300673|300732|300736|300744|300745|300749|300753|300754|300755|300770|300772|300784|300785|300794|300796|300797|300798|300827|300831|300832|300833|300835|300836|300837|300839|300852|300853|300855|300856|361182|367859|367867|368122|368209|368210|368212|368229|368231|369509|369514|406612|406615|406617|421517|454199|454201|454205|454336|454340|454342|454351|454367|454686|454687|454690|454692|454694|454701|454986|454990|455000|501112|501116|501118|501255|501265|513275|520451|520452|520460|520468|520472|520475|520685|520688|520697|520699|520700|520873|520875|520876|520968|520969|520971|559985|559987|559989|559991|559993|559995|559997|559999|560100|560102|560104|560106|562591|564447|564451|564455|564456|632913|632914|632915|632916|632917|632918|632919|632920|632921|632922|632923|632924|632925|632926|632927|632928|632929|632930|632931|632932|632933|632934|632935|632936|632937|632938|632939|632940|632941|632942|632943|651272|691668|691669|698758|709604|721191|734825|749180|749183|759434|764780|775129|782116|795614|829896|829897|829898|829899|829900|829901|829902|829903|829904|829905|829906|829907|829908|829909|829910|829911|829912|829913|829914|829915|829916|829917|829918|829919|829920|829921|829922|829923|829924|829925|829926|829927|829928|829929|829930|892749|892750|892751|892752|892753|892754|892755|892756|892757|892758|892759|892760|892761|892762|892763|892764|892765|892766|892767|892768|892769|892770|892771|892772|892773|892774|892775|892776|892777|892778|892779|892780|892781|892782|892783|892784|892785|892786|892787|892788|892789|892790|892791|892792|892793|892794|892795|892796|892797|892798|892799|892800|892801|892802|892803|892804|892805|892806|892807|892808|892809|892810|892811|892812|892813|892814|892815|896023|896024|896025|923740|923741|923742|923743|923744|923745|923746|923747|932598|932599|932600|932601|932602|932603|932604|944273|944274|944275|944276|944277|944278|944279|944280|944281|953933|953934|953935|960546|960547", "text": "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset" }, { - "baseId": "39922|39923|39924", + "upstreamId": "39922|39923|39924", "text": "Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant" }, { - "baseId": "39932|39933|49675|49676|227399|256465|256466|256467|256469|256470|256472|330255|330258|330265|330270|340470|346186|346187|346188|346191|346192|346193|347496|347502|347503|347504|347505|347506|353464|353465|610686|614445|620610|626262|741061|756161|756165|878650|878651|878652|878653|878654|878655|878656|878657|878658|878659|880607|880608|880609|961978|961979", + "upstreamId": "39932|39933|49675|49676|227399|256465|256466|256467|256469|256470|256472|330255|330258|330265|330270|340470|346186|346187|346188|346191|346192|346193|347496|347502|347503|347504|347505|347506|353464|353465|610686|614445|620610|626262|741061|756161|756165|878650|878651|878652|878653|878654|878655|878656|878657|878658|878659|880607|880608|880609|961978|961979", "text": "Dyskeratosis congenita, autosomal recessive, 3" }, { - "baseId": "39938|185674|185675|185676|964237", + "upstreamId": "39938|185674|185675|185676|964237", "text": "Adermatoglyphia" }, { - "baseId": "39938|185677", + "upstreamId": "39938|185677", "text": "Basan syndrome" }, { - "baseId": "39939|142661|142663|142664|211878|211880|211881|211882|211884|211885|243995|333468|333469|333470|333476|333477|333479|343501|343507|343512|343513|343520|348832|348833|348834|348836|348837|348838|348839|349792|349794|349796|349801|349802|349805|349812|426310|506729|550087|656559|881939|881940|881941|881942|881943|881944|881945|881946|881947|881948|881949|881950|881951|881952|881953|881954|881955|881956|881957|881958|881959|881960|882881|966903", + "upstreamId": "39939|142661|142663|142664|211878|211880|211881|211882|211884|211885|243995|333468|333469|333470|333476|333477|333479|343501|343507|343512|343513|343520|348832|348833|348834|348836|348837|348838|348839|349792|349794|349796|349801|349802|349805|349812|426310|506729|550087|656559|881939|881940|881941|881942|881943|881944|881945|881946|881947|881948|881949|881950|881951|881952|881953|881954|881955|881956|881957|881958|881959|881960|882881|966903", "text": "Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis" }, { - "baseId": "39940|53289|195622|535663|535664|535665|535666|535667|535668|535670|535671|857673|857674|904068|919249|946767|980585", + "upstreamId": "39940|53289|195622|535663|535664|535665|535666|535667|535668|535670|535671|857673|857674|904068|919249|946767|980585", "text": "Deafness, autosomal recessive 57" }, { - "baseId": "39942|39943|39944|39945|39946|48067|48068|272982|344968|345036|349823|349827|349831|350853|415680|425230|481326|481339|539097|552222|578573|589812|621639|621640|653897|679354|682834|791976|791977|798762|858750|964530|971142", + "upstreamId": "39942|39943|39944|39945|39946|48067|48068|272982|344968|345036|349823|349827|349831|350853|415680|425230|481326|481339|539097|552222|578573|589812|621639|621640|653897|679354|682834|791976|791977|798762|858750|964530|971142", "text": "Bohring-Opitz syndrome" }, { - "baseId": "39943", + "upstreamId": "39943", "text": "dystrophia" }, { - "baseId": "39952|39953|39954|39955|39956|39957|39958|39959|39960|39961|39962|48734|48735|208426|403099|403203|430041|469210|469548|469555|469574|532116|532462|553396|571808|619927|647035|647048|791846|791847|961980|980850|980851|980852", + "upstreamId": "39952|39953|39954|39955|39956|39957|39958|39959|39960|39961|39962|48734|48735|208426|403099|403203|430041|469210|469548|469555|469574|532116|532462|553396|571808|619927|647035|647048|791846|791847|961980|980850|980851|980852", "text": "Cerebroretinal microangiopathy with calcifications and cysts 1" }, { - "baseId": "39957|48734|430035", + "upstreamId": "39957|48734|430035", "text": "Cerebroretinal microangiopathy with calcifications and cysts" }, { - "baseId": "39964", + "upstreamId": "39964", "text": "EDICT syndrome" }, { - "baseId": "39975|434881|539076", + "upstreamId": "39975|434881|539076", "text": "Epiphyseal dysplasia, multiple, 7" }, { - "baseId": "39977|210904|226292|287256|287947|287948|287950|290538|290556|290565|366784|804904|805142|885458|885459|885460", + "upstreamId": "39977|210904|226292|287256|287947|287948|287950|290538|290556|290565|366784|804904|805142|885458|885459|885460", "text": "Multiple mitochondrial dysfunctions syndrome 2" }, { - "baseId": "39978|39979|39980|39981|39982|39983|186225|208254|208255|208257|213187|213188|213191|236954|236960|242400|242402|242403|242405|242406|242407|242408|242409|242410|242411|242415|242417|242418|242420|242421|242422|242424|242426|242427|242430|242432|242433|242435|242436|255707|255708|255709|255711|255712|255713|255714|255715|255716|255717|255718|255719|255722|255724|255725|255727|255728|255729|255730|255731|255732|255733|255734|255735|255736|325256|325266|325275|325280|325281|325283|325299|325301|325303|325312|325313|325315|325330|325332|334909|334911|334912|334914|334915|334916|334920|334921|334928|334930|334937|334940|334947|334950|334951|334957|334959|341359|341361|341362|341365|341370|341380|341389|341391|341392|341398|341400|341410|341415|341416|341418|341426|341428|341429|341430|341432|341433|341438|341444|341445|341450|342868|342874|342875|342876|342877|342888|342891|342896|342897|342899|342906|342910|342917|342920|342923|342927|342931|342932|342934|342939|342940|342944|342945|342946|342947|342950|401138|401151|401159|401170|401173|401176|401177|401199|401203|401240|401632|401652|401654|401676|401679|401894|401905|401911|409623|429791|429792|429793|429794|465680|465686|465722|465727|466381|466421|466427|466442|466462|466652|466653|466698|466702|529942|529977|530056|530072|530076|530266|530517|552189|568130|570280|612163|614424|614425|620540|620541|682684|688571|690140|693865|797319|816338|843808|843830|843838|843844|843846|843849|843855|843859|875217|875218|875219|875220|875221|875222|875223|875224|875225|875226|875227|875228|875229|875230|875231|875232|875233|875234|875235|875236|875237|875238|875239|875240|875241|875242|875243|875244|875245|875246|875247|875248|875249|875250|875251|875252|875253|875254|875255|875256|875257|875258|876664|876665|876666|876667|917931|917934|917938|919647|921524", + "upstreamId": "39978|39979|39980|39981|39982|39983|186225|208254|208255|208257|213187|213188|213191|236954|236960|242400|242402|242403|242405|242406|242407|242408|242409|242410|242411|242415|242417|242418|242420|242421|242422|242424|242426|242427|242430|242432|242433|242435|242436|255707|255708|255709|255711|255712|255713|255714|255715|255716|255717|255718|255719|255722|255724|255725|255727|255728|255729|255730|255731|255732|255733|255734|255735|255736|325256|325266|325275|325280|325281|325283|325299|325301|325303|325312|325313|325315|325330|325332|334909|334911|334912|334914|334915|334916|334920|334921|334928|334930|334937|334940|334947|334950|334951|334957|334959|341359|341361|341362|341365|341370|341380|341389|341391|341392|341398|341400|341410|341415|341416|341418|341426|341428|341429|341430|341432|341433|341438|341444|341445|341450|342868|342874|342875|342876|342877|342888|342891|342896|342897|342899|342906|342910|342917|342920|342923|342927|342931|342932|342934|342939|342940|342944|342945|342946|342947|342950|401138|401151|401159|401170|401173|401176|401177|401199|401203|401240|401632|401652|401654|401676|401679|401894|401905|401911|409623|429791|429792|429793|429794|465680|465686|465722|465727|466381|466421|466427|466442|466462|466652|466653|466698|466702|529942|529977|530056|530072|530076|530266|530517|552189|568130|570280|612163|614424|614425|620540|620541|682684|688571|690140|693865|797319|816338|843808|843830|843838|843844|843846|843849|843855|843859|875217|875218|875219|875220|875221|875222|875223|875224|875225|875226|875227|875228|875229|875230|875231|875232|875233|875234|875235|875236|875237|875238|875239|875240|875241|875242|875243|875244|875245|875246|875247|875248|875249|875250|875251|875252|875253|875254|875255|875256|875257|875258|876664|876665|876666|876667|917931|917934|917938|919647|921524", "text": "Fanconi anemia, complementation group P" }, { - "baseId": "39994", + "upstreamId": "39994", "text": "Primary microcephaly type 2" }, { - "baseId": "40000|40001|40002|76527|99368|99368|177078|178154|178155|178155|192629|192629|192964|192964|195918|195918|206935|206935|206937|250472|265346|265346|268034|268034|270910|271977|272560|272806|272806|273025|283724|283727|283728|283734|283736|283737|283738|283749|283751|283752|283757|283759|283764|283770|283771|283776|283778|283779|283780|283785|283796|283796|283799|283799|283805|283805|283810|283820|283823|283824|283829|283830|284401|284404|284407|284414|284419|284430|284431|284432|284437|284437|284438|284448|284457|284458|284459|284461|284463|284463|284471|284471|286403|286415|286416|286421|286422|286439|286446|286447|286448|286450|286451|286452|286470|286472|286472|286474|286475|286476|286478|286481|286484|286484|286777|286778|286779|286781|286786|286793|286794|286810|286816|286828|286841|286842|286855|286857|286857|286858|286865|286866|286876|286878|286881|286881|427983|427983|434042|434042|434044|434045|440064|450229|450242|450242|450249|450362|450490|481531|488635|488637|490556|517497|557806|557810|557857|559023|559522|559525|609305|609306|629268|629274|629274|629275|697232|697236|719510|730096|747156|762776|825542|825545|825548|825553|883131|883132|883133|883134|883135|883136|883137|883138|883139|883140|883141|883142|883143|883144|883145|883146|883147|883148|883149|883150|883151|883152|883153|883154|883155|883156|883157|883158|883159|883160|883161|883162|883163|883164|883165|883166|883167|883168|883169|883170|883171|883172|883173|883174|883175|883176|883177|883178|887229|887230|887231|887232|922506|931069|952874|959619", + "upstreamId": "40000|40001|40002|76527|99368|99368|177078|178154|178155|178155|192629|192629|192964|192964|195918|195918|206935|206935|206937|250472|265346|265346|268034|268034|270910|271977|272560|272806|272806|273025|283724|283727|283728|283734|283736|283737|283738|283749|283751|283752|283757|283759|283764|283770|283771|283776|283778|283779|283780|283785|283796|283796|283799|283799|283805|283805|283810|283820|283823|283824|283829|283830|284401|284404|284407|284414|284419|284430|284431|284432|284437|284437|284438|284448|284457|284458|284459|284461|284463|284463|284471|284471|286403|286415|286416|286421|286422|286439|286446|286447|286448|286450|286451|286452|286470|286472|286472|286474|286475|286476|286478|286481|286484|286484|286777|286778|286779|286781|286786|286793|286794|286810|286816|286828|286841|286842|286855|286857|286857|286858|286865|286866|286876|286878|286881|286881|427983|427983|434042|434042|434044|434045|440064|450229|450242|450242|450249|450362|450490|481531|488635|488637|490556|517497|557806|557810|557857|559023|559522|559525|609305|609306|629268|629274|629274|629275|697232|697236|719510|730096|747156|762776|825542|825545|825548|825553|883131|883132|883133|883134|883135|883136|883137|883138|883139|883140|883141|883142|883143|883144|883145|883146|883147|883148|883149|883150|883151|883152|883153|883154|883155|883156|883157|883158|883159|883160|883161|883162|883163|883164|883165|883166|883167|883168|883169|883170|883171|883172|883173|883174|883175|883176|883177|883178|887229|887230|887231|887232|922506|931069|952874|959619", "text": "Short rib polydactyly syndrome 5" }, { - "baseId": "40003|40004|153785|153786|188068|508939|508940|512883|792020|980970", + "upstreamId": "40003|40004|153785|153786|188068|508939|508940|512883|792020|980970", "text": "Van den Ende-Gupta syndrome" }, { - "baseId": "40006|40007|40008|40009|40010|40011|166231", + "upstreamId": "40006|40007|40008|40009|40010|40011|166231", "text": "Treacher Collins syndrome 2" }, { - "baseId": "40012|40013|553269", + "upstreamId": "40012|40013|553269", "text": "Deafness, autosomal recessive 74" }, { - "baseId": "40014|40015|40016|40017|133835|133836|133837|171737|171738|171739|207076|207077|251139|290298|290299|290309|290315|290317|290321|290324|290328|290343|290367|291143|291144|291170|291180|291181|291183|291184|291185|291194|291241|294449|294450|294457|294459|294460|294463|294470|294492|294832|294833|294850|294862|294866|294868|294876|294877|294884|294886|294937|294940|428190|428192|440792|653860|734068|748270|798534|888890|888891|888892|888893|888894|888895|888896|888897|888898|888899|888900|888901|888902|888903|888904|888905|888906|888907|888908|888929|891642|891643|891644|918831|964816", + "upstreamId": "40014|40015|40016|40017|133835|133836|133837|171737|171738|171739|207076|207077|251139|290298|290299|290309|290315|290317|290321|290324|290328|290343|290367|291143|291144|291170|291180|291181|291183|291184|291185|291194|291241|294449|294450|294457|294459|294460|294463|294470|294492|294832|294833|294850|294862|294866|294868|294876|294877|294884|294886|294937|294940|428190|428192|440792|653860|734068|748270|798534|888890|888891|888892|888893|888894|888895|888896|888897|888898|888899|888900|888901|888902|888903|888904|888905|888906|888907|888908|888929|891642|891643|891644|918831|964816", "text": "Spinocerebellar ataxia, autosomal recessive 10" }, { - "baseId": "40018|40019|40020|134751|134752|134753|134754|134755|134756|134757|134758|255321|255322|255323|255324|255325|255329|255330|323055|323056|323063|323065|323066|323067|323072|323076|323077|332658|332661|332665|332666|332668|332669|332684|332687|332689|332692|339671|339674|339675|339680|339685|339692|341029|341034|341041|341042|341051|341054|341055|341058|341061|341062|341063|341064|341065|341068|341069|374263|374659|374672|409320|429713|445402|464417|464418|464425|465024|465026|465036|465040|465047|465215|465218|465222|465224|465225|465237|465239|465287|465289|465298|465303|465308|465310|491142|504911|505119|505331|513348|528961|528965|528979|528986|528988|529078|529084|529086|529088|529394|529396|529400|529557|529559|529566|529569|550779|567218|567220|569039|569040|569545|569546|569548|569549|569556|569557|573459|573461|573466|573470|573473|573474|573478|643459|643460|643461|643462|643463|643464|643465|643466|643467|643468|643469|643470|643471|643472|643473|643474|693712|693713|693717|693718|693719|703293|726207|739746|754629|770289|784985|784987|822100|842577|842578|842579|842580|842581|842582|842583|842584|842585|842586|842587|842588|873965|873966|873967|873968|873969|873970|873971|873972|873973|873974|873975|873976|873977|873978|873979|905864|919589|919590|927391|927392|927393|927394|927395|927396|937004|937005|937006|937007|937008|948959|948960|948961|948962|948963|948964|957466|957467|957468", + "upstreamId": "40018|40019|40020|134751|134752|134753|134754|134755|134756|134757|134758|255321|255322|255323|255324|255325|255329|255330|323055|323056|323063|323065|323066|323067|323072|323076|323077|332658|332661|332665|332666|332668|332669|332684|332687|332689|332692|339671|339674|339675|339680|339685|339692|341029|341034|341041|341042|341051|341054|341055|341058|341061|341062|341063|341064|341065|341068|341069|374263|374659|374672|409320|429713|445402|464417|464418|464425|465024|465026|465036|465040|465047|465215|465218|465222|465224|465225|465237|465239|465287|465289|465298|465303|465308|465310|491142|504911|505119|505331|513348|528961|528965|528979|528986|528988|529078|529084|529086|529088|529394|529396|529400|529557|529559|529566|529569|550779|567218|567220|569039|569040|569545|569546|569548|569549|569556|569557|573459|573461|573466|573470|573473|573474|573478|643459|643460|643461|643462|643463|643464|643465|643466|643467|643468|643469|643470|643471|643472|643473|643474|693712|693713|693717|693718|693719|703293|726207|739746|754629|770289|784985|784987|822100|842577|842578|842579|842580|842581|842582|842583|842584|842585|842586|842587|842588|873965|873966|873967|873968|873969|873970|873971|873972|873973|873974|873975|873976|873977|873978|873979|905864|919589|919590|927391|927392|927393|927394|927395|927396|937004|937005|937006|937007|937008|948959|948960|948961|948962|948963|948964|957466|957467|957468", "text": "Nemaline myopathy 6" }, { - "baseId": "40021|48299|48300|206591|206592|206593|206594|206595|206596|206597|206598|206599|206600|404722|404723|404724|404725|404726|404727|404728|404729|404730|404731|404732|404733|404734|404735|404736|404737|404738|404739|404740|404741|404742|576249|576250|615848|624866|791843|800076|858575", + "upstreamId": "40021|48299|48300|206591|206592|206593|206594|206595|206596|206597|206598|206599|206600|404722|404723|404724|404725|404726|404727|404728|404729|404730|404731|404732|404733|404734|404735|404736|404737|404738|404739|404740|404741|404742|576249|576250|615848|624866|791843|800076|858575", "text": "Moyamoya disease 2" }, { - "baseId": "40024|40025|76858|76902|76906|173761|173762|173763|173764|173902|173903|173904|177350|192069|221373|221374|221375|229033|229034|229037|229038|239119|239121|239122|239125|251017|251018|251022|251028|251031|251032|251035|289566|289567|289570|289571|289577|289579|289591|289593|289595|289596|290329|290332|290335|290338|290339|290342|290345|290348|293431|293441|293442|293445|293446|293867|293869|293871|293872|293875|293885|293890|293894|293896|293906|293921|293923|293927|293937|293954|293958|393446|406156|451975|451978|452209|452465|519198|519209|620122|654318|683569|686375|851283|857587|857602|888432|888433|888434|888435|888436|888437|888438|888439|888440|888441|888442|888443|888444|888445|888446|888447|888448|888449|888450|888451|888452|891622|891623|891624|943428|966791|983459", + "upstreamId": "40024|40025|76858|76902|76906|173761|173762|173763|173764|173902|173903|173904|177350|192069|221373|221374|221375|229033|229034|229037|229038|239119|239121|239122|239125|251017|251018|251022|251028|251031|251032|251035|289566|289567|289570|289571|289577|289579|289591|289593|289595|289596|290329|290332|290335|290338|290339|290342|290345|290348|293431|293441|293442|293445|293446|293867|293869|293871|293872|293875|293885|293890|293894|293896|293906|293921|293923|293927|293937|293954|293958|393446|406156|451975|451978|452209|452465|519198|519209|620122|654318|683569|686375|851283|857587|857602|888432|888433|888434|888435|888436|888437|888438|888439|888440|888441|888442|888443|888444|888445|888446|888447|888448|888449|888450|888451|888452|891622|891623|891624|943428|966791|983459", "text": "Ciliary dyskinesia, primary, 14" }, { - "baseId": "40026|40027|40028|40029|76838|101777|150295|176025|176505|176506|176507|176508|176509|176510|176511|176512|176642|176643|176644|176645|176646|176647|176648|176649|177031|192684|194478|213408|213410|213412|213414|213415|213416|222746|230794|230796|230797|230798|230799|230800|230801|230802|230803|243000|243002|243003|243006|243009|243010|243014|256479|256485|256487|256497|256498|256499|256502|256504|256505|256509|256510|256513|272779|330388|330391|330392|330393|330399|330401|330403|330404|330406|330407|330412|330416|330417|330419|330420|330427|330429|330436|330437|340601|340602|340604|340612|340613|340614|340617|340622|340624|340627|340630|340632|346299|346303|347637|347638|347641|347645|347646|347650|347657|347661|347664|402584|402587|402628|403197|467613|468452|531891|531942|569832|572372|574658|620612|646846|646850|684722|791838|846361|878720|878721|878722|878723|878724|878725|878726|878727|878728|878729|878730|878731|878732|878733|878734|878735|878736|878737|878738|878739|878740|878741|878742|878743|880612|880613|880614|919775|919776|919777|919778|919779|980960", + "upstreamId": "40026|40027|40028|40029|76838|101777|150295|176025|176505|176506|176507|176508|176509|176510|176511|176512|176642|176643|176644|176645|176646|176647|176648|176649|177031|192684|194478|213408|213410|213412|213414|213415|213416|222746|230794|230796|230797|230798|230799|230800|230801|230802|230803|243000|243002|243003|243006|243009|243010|243014|256479|256485|256487|256497|256498|256499|256502|256504|256505|256509|256510|256513|272779|330388|330391|330392|330393|330399|330401|330403|330404|330406|330407|330412|330416|330417|330419|330420|330427|330429|330436|330437|340601|340602|340604|340612|340613|340614|340617|340622|340624|340627|340630|340632|346299|346303|347637|347638|347641|347645|347646|347650|347657|347661|347664|402584|402587|402628|403197|467613|468452|531891|531942|569832|572372|574658|620612|646846|646850|684722|791838|846361|878720|878721|878722|878723|878724|878725|878726|878727|878728|878729|878730|878731|878732|878733|878734|878735|878736|878737|878738|878739|878740|878741|878742|878743|880612|880613|880614|919775|919776|919777|919778|919779|980960", "text": "Ciliary dyskinesia, primary, 15" }, { - "baseId": "40030|40031|108179|108180|108181|108182|141469|141470|141475|141476|211793|211794|211795|211798|327330|327345|327347|327351|327355|337150|337153|337164|337175|337188|343391|343393|343394|343395|343399|343400|343405|343408|343418|343422|344977|344980|344982|344989|344994|344995|344996|344998|345001|345002|345006|345011|345014|429927|430988|505786|505800|538464|861665|876821|876822|876823|876824|876825|876826|876827|876828|876829|876830|876831|876832|876833|876834|876835|876836|876837|876838|876839|876840|876841|876842|876843|876844|880465|880466|970416|970417", + "upstreamId": "40030|40031|108179|108180|108181|108182|141469|141470|141475|141476|211793|211794|211795|211798|327330|327345|327347|327351|327355|337150|337153|337164|337175|337188|343391|343393|343394|343395|343399|343400|343405|343408|343418|343422|344977|344980|344982|344989|344994|344995|344996|344998|345001|345002|345006|345011|345014|429927|430988|505786|505800|538464|861665|876821|876822|876823|876824|876825|876826|876827|876828|876829|876830|876831|876832|876833|876834|876835|876836|876837|876838|876839|876840|876841|876842|876843|876844|880465|880466|970416|970417", "text": "Mitochondrial complex III deficiency, nuclear type 2" }, { - "baseId": "40033|131814|131815|131817|131818|131819|131820|131821|131823|131824|131826|131827|195422|195423|195754|207939|207940|207940|207941|214317|254446|254450|316256|316266|316267|316270|316272|316273|316274|323604|323608|323609|323618|323621|323623|323629|329742|329750|329751|329753|329759|329767|329768|329769|331021|331022|331024|331025|331028|331039|353213|684311|869457|869458|869459|869460|869461|869462|869463|869464|869465|869466|869467|869468|869469|869470|869471|869472|869473|869474|869475|869476|869477|869478|869479|872201|872202|872203|872204|906259|919418", + "upstreamId": "40033|131814|131815|131817|131818|131819|131820|131821|131823|131824|131826|131827|195422|195423|195754|207939|207940|207940|207941|214317|254446|254450|316256|316266|316267|316270|316272|316273|316274|323604|323608|323609|323618|323621|323623|323629|329742|329750|329751|329753|329759|329767|329768|329769|331021|331022|331024|331025|331028|331039|353213|684311|869457|869458|869459|869460|869461|869462|869463|869464|869465|869466|869467|869468|869469|869470|869471|869472|869473|869474|869475|869476|869477|869478|869479|872201|872202|872203|872204|906259|919418", "text": "Meckel syndrome type 8" }, { - "baseId": "40033|620840", + "upstreamId": "40033|620840", "text": "TCTN2-Related Disorders" }, { - "baseId": "40034|40035|40036|40037|78958|152875|177134|177837|181302|181303|181304|181305|181306|181307|195757|254019|312776|312788|312808|318775|318789|318827|321281|321298|324884|324913|324926|324932|325706|325720|325762|325768|325780|330507|337017|450807|517958|695124|695125|697405|825950|903677|918752|931200", + "upstreamId": "40034|40035|40036|40037|78958|152875|177134|177837|181302|181303|181304|181305|181306|181307|195757|254019|312776|312788|312808|318775|318789|318827|321281|321298|324884|324913|324926|324932|325706|325720|325762|325768|325780|330507|337017|450807|517958|695124|695125|697405|825950|903677|918752|931200", "text": "Microphthalmia, isolated 6" }, { - "baseId": "40034|551565", + "upstreamId": "40034|551565", "text": "Nanophthalmos" }, { - "baseId": "40039", + "upstreamId": "40039", "text": "Kel6 antigen" }, { - "baseId": "40040|107250|107251|107252|107253|107254|107255", + "upstreamId": "40040|107250|107251|107252|107253|107254|107255", "text": "Spermatogenic failure 9" }, { - "baseId": "40042|40043|51191|136030|136031|188077|188078|226978|334927|334929|334941|334945|334949|334952|334958|334961|334962|334964|334970|334975|334983|344785|344788|344789|344790|344791|344797|344798|344800|349741|349742|349743|349744|349747|349749|349751|349755|349758|349761|349763|350747|350750|350751|350754|350755|350758|350759|350761|350763|350765|350767|350769|442270|442277|442278|486279|514103|626281|716885|716889|728576|757405|791973|793821|885894|885895|885896|885897|885898|885899|885900|885901|885902|885903|885904|885905|885906|885907|885908|885909|885910|885911|887429|887430|887431|887432|887433|887434", + "upstreamId": "40042|40043|51191|136030|136031|188077|188078|226978|334927|334929|334941|334945|334949|334952|334958|334961|334962|334964|334970|334975|334983|344785|344788|344789|344790|344791|344797|344798|344800|349741|349742|349743|349744|349747|349749|349751|349755|349758|349761|349763|350747|350750|350751|350754|350755|350758|350759|350761|350763|350765|350767|350769|442270|442277|442278|486279|514103|626281|716885|716889|728576|757405|791973|793821|885894|885895|885896|885897|885898|885899|885900|885901|885902|885903|885904|885905|885906|885907|885908|885909|885910|885911|887429|887430|887431|887432|887433|887434", "text": "Spinocerebellar ataxia 35" }, { - "baseId": "40044", + "upstreamId": "40044", "text": "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3" }, { - "baseId": "40045", + "upstreamId": "40045", "text": "Autosomal recessive congenital ichthyosis 8" }, { - "baseId": "40046|792004|919927|919928|919929|920420|964544", + "upstreamId": "40046|792004|919927|919928|919929|920420|964544", "text": "Retinitis pigmentosa 60" }, { - "baseId": "40047|40048|40049|172127|305524|305527|305532|305536|305538|305539|305540|305545|305559|305572|305573|305581|305586|305593|305599|305610|305614|305617|309408|309417|309420|309422|309433|309436|309441|309454|309461|309469|309473|309475|309481|309487|309490|309491|309500|309509|309518|309519|309520|309522|309524|314730|314733|314734|314753|314755|314763|314771|314774|314776|314787|314788|314792|314794|314800|314802|314806|314809|314811|314815|314817|314818|314824|314826|314829|314830|314834|314835|314838|314842|314843|314847|314852|314853|314857|314858|314871|314877|314880|314883|314884|314888|314893|314903|620806|899782|899783|899784|899785|899786|899787|899788|899789|899790|899791|899792|899793|899794|899795|899796|899797|899798|899799|899800|899801|899802|899803|899804|899805|899806|899807|899808|899809|899810|899811|899812|899813|899814|899815|899816|899817|899818|899819|899820|899821|899822|899823|899824|899825|899826|899827|899828|899829|899830|899831|899832|899833|899834|899835|899836|899837|899838|899839|899840|899841|899842|899843|899844|899845|899846|899847|899848|899849|899850|899851|899852|899853|899854", + "upstreamId": "40047|40048|40049|172127|305524|305527|305532|305536|305538|305539|305540|305545|305559|305572|305573|305581|305586|305593|305599|305610|305614|305617|309408|309417|309420|309422|309433|309436|309441|309454|309461|309469|309473|309475|309481|309487|309490|309491|309500|309509|309518|309519|309520|309522|309524|314730|314733|314734|314753|314755|314763|314771|314774|314776|314787|314788|314792|314794|314800|314802|314806|314809|314811|314815|314817|314818|314824|314826|314829|314830|314834|314835|314838|314842|314843|314847|314852|314853|314857|314858|314871|314877|314880|314883|314884|314888|314893|314903|620806|899782|899783|899784|899785|899786|899787|899788|899789|899790|899791|899792|899793|899794|899795|899796|899797|899798|899799|899800|899801|899802|899803|899804|899805|899806|899807|899808|899809|899810|899811|899812|899813|899814|899815|899816|899817|899818|899819|899820|899821|899822|899823|899824|899825|899826|899827|899828|899829|899830|899831|899832|899833|899834|899835|899836|899837|899838|899839|899840|899841|899842|899843|899844|899845|899846|899847|899848|899849|899850|899851|899852|899853|899854", "text": "Chondrodysplasia with joint dislocations, GPAPP type" }, { - "baseId": "40050|40052|40053|40054|48678|246995|455135|455137|455141|455278|455764|456004|521278|521280|521287|521288|521289|521290|521560|521571|521645|521652|521656|521658|521898|521910|560401|560515|560521|563279|563285|563289|563296|565261|589602|634468|634469|634470|634471|634472|634473|634474|634475|699245|699246|710113|710115|710116|710117|721641|721642|721643|735331|735332|749736|749737|765422|765424|765425|787310|799433|831370|831371|831372|831373|831374|831375|831376|831377|831378|831379|831380|831381|831382|924206|924207|924208|924209|924210|924211|933114|933115|933116|933117|933118|940023|944841|944842|944843|944844|944845|954317|954318|954319|980455|981513", + "upstreamId": "40050|40052|40053|40054|48678|246995|455135|455137|455141|455278|455764|456004|521278|521280|521287|521288|521289|521290|521560|521571|521645|521652|521656|521658|521898|521910|560401|560515|560521|563279|563285|563289|563296|565261|589602|634468|634469|634470|634471|634472|634473|634474|634475|699245|699246|710113|710115|710116|710117|721641|721642|721643|735331|735332|749736|749737|765422|765424|765425|787310|799433|831370|831371|831372|831373|831374|831375|831376|831377|831378|831379|831380|831381|831382|924206|924207|924208|924209|924210|924211|933114|933115|933116|933117|933118|940023|944841|944842|944843|944844|944845|954317|954318|954319|980455|981513", "text": "Immunodeficiency-centromeric instability-facial anomalies syndrome 2" }, { - "baseId": "40055|620862", + "upstreamId": "40055|620862", "text": "Cranioectodermal dysplasia 3" }, { - "baseId": "40058", + "upstreamId": "40058", "text": "Oculomaxillofacial dysostosis" }, { - "baseId": "40059|40060|256098|256099|256100|256103|327647|337455|337456|343708|343713|345174|375803|684664|876991|876992|876993|876994|876995", + "upstreamId": "40059|40060|256098|256099|256100|256103|327647|337455|337456|343708|343713|345174|375803|684664|876991|876992|876993|876994|876995", "text": "Meckel syndrome, type 9" }, { - "baseId": "40059|214358|249229|249231|645399", + "upstreamId": "40059|214358|249229|249231|645399", "text": "Joubert syndrome 27" }, { - "baseId": "40061|40062|919877|919878|980966", + "upstreamId": "40061|40062|919877|919878|980966", "text": "Three M syndrome 3" }, { - "baseId": "40063|131983|131984", + "upstreamId": "40063|131983|131984", "text": "Spinocerebellar ataxia 36" }, { - "baseId": "40064|40065|40066|918658|918659", + "upstreamId": "40064|40065|40066|918658|918659", "text": "Myopia 21, autosomal dominant" }, { - "baseId": "40067|40068|40069|40070|40071|40072|192504|292157|293603|293604|293607|293611|296910|296913|296918|406392|500449|500455|891719|891720|891721|918873|969116|969117|969118", + "upstreamId": "40067|40068|40069|40070|40071|40072|192504|292157|293603|293604|293607|293611|296910|296913|296918|406392|500449|500455|891719|891720|891721|918873|969116|969117|969118", "text": "Brittle cornea syndrome 2" }, { - "baseId": "40073|40074|40075|40076|40077|40078|40079|251174|251175|251176|251177|251179|251180|251181|251182|251183|251184|251188|251189|271697|290778|290787|290792|290794|290798|290799|290801|290803|290812|290813|290814|290815|290818|290819|290824|290830|290831|290834|290839|290840|290843|290849|291691|291693|291694|291695|291696|291698|291701|291702|291706|291710|291717|291718|291721|291734|291736|291746|291762|291764|291767|291768|291769|291773|291775|291794|291795|291796|291798|291799|294914|294915|294916|294917|294918|294921|294925|294926|294931|294936|294953|294954|294955|294956|294958|294961|294962|294964|294965|294982|294983|295288|295290|295291|295294|295303|295305|295309|295312|295316|295318|295322|295324|295340|295341|295353|295355|295357|295358|295359|404766|428194|428195|428196|428197|428198|615339|615340|615341|615342|615343|615344|615345|615347|615348|698125|698126|708881|708886|708887|720475|720480|734089|744063|748301|777411|792738|801075|801076|801077|889145|889146|889147|889148|889149|889150|889151|889152|889153|889154|889155|889156|889157|889158|889159|889160|889161|889162|889163|889164|889165|889166|889167|889168|889169|889170|889171|889172|889173|889174|889175|889176|889178|889179|889180|889181|889182|889183|889184|889185|889186|889187|889188|889189|889190|889191|889192|889193|889194|889195|889196|889197|889198|889199|889200|889201|889202|889203|889204|889205|889206|889207|889208|889209|889210|889211|889212|889213|889214|889215|889216|889217|889218|889219|889220|889221|889222|891664|891665|891666|891667|891668|891669|891670|891671|891672|970385|970386|970387|970388|970389|970390|970391|970392|970393|970394|970395|970396|970397|970398|970399|970400|970401|970402|970403|970404|970405|970406", + "upstreamId": "40073|40074|40075|40076|40077|40078|40079|251174|251175|251176|251177|251179|251180|251181|251182|251183|251184|251188|251189|271697|290778|290787|290792|290794|290798|290799|290801|290803|290812|290813|290814|290815|290818|290819|290824|290830|290831|290834|290839|290840|290843|290849|291691|291693|291694|291695|291696|291698|291701|291702|291706|291710|291717|291718|291721|291734|291736|291746|291762|291764|291767|291768|291769|291773|291775|291794|291795|291796|291798|291799|294914|294915|294916|294917|294918|294921|294925|294926|294931|294936|294953|294954|294955|294956|294958|294961|294962|294964|294965|294982|294983|295288|295290|295291|295294|295303|295305|295309|295312|295316|295318|295322|295324|295340|295341|295353|295355|295357|295358|295359|404766|428194|428195|428196|428197|428198|615339|615340|615341|615342|615343|615344|615345|615347|615348|698125|698126|708881|708886|708887|720475|720480|734089|744063|748301|777411|792738|801075|801076|801077|889145|889146|889147|889148|889149|889150|889151|889152|889153|889154|889155|889156|889157|889158|889159|889160|889161|889162|889163|889164|889165|889166|889167|889168|889169|889170|889171|889172|889173|889174|889175|889176|889178|889179|889180|889181|889182|889183|889184|889185|889186|889187|889188|889189|889190|889191|889192|889193|889194|889195|889196|889197|889198|889199|889200|889201|889202|889203|889204|889205|889206|889207|889208|889209|889210|889211|889212|889213|889214|889215|889216|889217|889218|889219|889220|889221|889222|891664|891665|891666|891667|891668|891669|891670|891671|891672|970385|970386|970387|970388|970389|970390|970391|970392|970393|970394|970395|970396|970397|970398|970399|970400|970401|970402|970403|970404|970405|970406", "text": "Gray platelet syndrome" }, { - "baseId": 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"text": "Perlman syndrome" }, { - "baseId": "40085|70470|70471|181457|198640|247457|247458|247459|256756|256758|256759|490706|508908|508909|508910|508911|508912|508913|508914|508915|508916|512962|513656|514257|514258|576183|971111", + "upstreamId": "40085|70470|70471|181457|198640|247457|247458|247459|256756|256758|256759|490706|508908|508909|508910|508911|508912|508913|508914|508915|508916|512962|513656|514257|514258|576183|971111", "text": "Adams-Oliver syndrome 2" }, { - "baseId": "40086|226420|610419|789716|789717|789718|789719", + "upstreamId": "40086|226420|610419|789716|789717|789718|789719", "text": "Spinal muscular atrophy with congenital bone fractures 2" }, { - "baseId": "40090|48234|48235|523487|562062|562513|564811|564813|578468|622387|636782|636783|636784|636785|636786|700470|700471|700472|700473|700474|711396|711397|711399|711400|722927|730551|751000|777694|777917|779288|779491|834294|834295|834296|834297|834298|852419|925069|945913|945914|945915|955341|955342", + "upstreamId": "40090|48234|48235|523487|562062|562513|564811|564813|578468|622387|636782|636783|636784|636785|636786|700470|700471|700472|700473|700474|711396|711397|711399|711400|722927|730551|751000|777694|777917|779288|779491|834294|834295|834296|834297|834298|852419|925069|945913|945914|945915|955341|955342", "text": "5-Oxoprolinase deficiency" }, { - "baseId": 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+ "upstreamId": 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"text": "Hypomyelinating leukodystrophy 7" }, { - "baseId": "40101|40103|237149|425890|439194|444659|540040|540041|540042|540043|540044|540045|540046|540047|540048|540050|540051|540052|609288|609290|609291|610434|610435|610436|919292|920286", + "upstreamId": "40101|40103|237149|425890|439194|444659|540040|540041|540042|540043|540044|540045|540046|540047|540048|540050|540051|540052|609288|609290|609291|610434|610435|610436|919292|920286", "text": "Neonatal pseudo-hydrocephalic progeroid syndrome" }, { - "baseId": "40107|107259|107260|107261|107262|107263|447720|447952|448067|448069|685680|685681|685682|685683|690567|690568|707256|707258|920146", + "upstreamId": "40107|107259|107260|107261|107262|107263|447720|447952|448067|448069|685680|685681|685682|685683|690567|690568|707256|707258|920146", "text": "Van der Woude syndrome 2" }, { - "baseId": "40109", + "upstreamId": "40109", "text": "Glucocorticoid therapy, response to" }, { - "baseId": "40110|40111|818282|962165|980337|980842", + "upstreamId": "40110|40111|818282|962165|980337|980842", "text": "Renal dysplasia, cystic, susceptibility to" }, { - "baseId": 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+ "upstreamId": 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"text": "Neurodegeneration with brain iron accumulation 4" }, { - "baseId": "40112|40114|40115|40115|94434|133987|181460|243317|243318|270629|349629|377370|377371|468606|469533|470004|470592|506829|532827|573001|608843|647893|653158|688979|821247|847484|847485|847486|928911|958590", + "upstreamId": "40112|40114|40115|40115|94434|133987|181460|243317|243318|270629|349629|377370|377371|468606|469533|470004|470592|506829|532827|573001|608843|647893|653158|688979|821247|847484|847485|847486|928911|958590", "text": "Spastic paraplegia 43, autosomal recessive" }, { - "baseId": "40113", + "upstreamId": "40113", "text": "Abnormality of iron homeostasis" }, { - "baseId": "40114|40115|103972|104114|360907|360961|861284", + "upstreamId": "40114|40115|103972|104114|360907|360961|861284", "text": "Mental deterioration" }, { - "baseId": "40114|40115|513915", + "upstreamId": "40114|40115|513915", "text": "Adult-onset night blindness" }, { - "baseId": "40117|40118|40119|40120|40121|40122|40123|40123|40124|135447|135448|135449|207933|207934|269442|269442|315851|315852|315855|315858|315861|315862|315863|315872|315873|315874|322947|322949|322953|322954|322962|322964|322967|322968|322974|322976|322980|322992|322994|323000|323002|329011|329012|329023|329024|329027|329028|329038|329039|330222|330223|330224|330226|330233|330236|330243|330244|362748|408505|482006|611987|620839|738412|858693|869149|869150|869151|869152|869153|869154|869155|869156|869157|869158|869159|869160|869161|869162|869163|869164|869165|872178|872179|872180|872181|872182|872183|872184|919403|961616", + "upstreamId": "40117|40118|40119|40120|40121|40122|40123|40123|40124|135447|135448|135449|207933|207934|269442|269442|315851|315852|315855|315858|315861|315862|315863|315872|315873|315874|322947|322949|322953|322954|322962|322964|322967|322968|322974|322976|322980|322992|322994|323000|323002|329011|329012|329023|329024|329027|329028|329038|329039|330222|330223|330224|330226|330233|330236|330243|330244|362748|408505|482006|611987|620839|738412|858693|869149|869150|869151|869152|869153|869154|869155|869156|869157|869158|869159|869160|869161|869162|869163|869164|869165|872178|872179|872180|872181|872182|872183|872184|919403|961616", "text": "Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism" }, { - "baseId": "40123|361949", + "upstreamId": "40123|361949", "text": "Cerebellar hypoplasia with endosteal sclerosis" }, { - "baseId": "40123|311191|311239|316543|316644|322577|322625|322671|322683|322935|323324|323393|330216|861638", + "upstreamId": "40123|311191|311239|316543|316644|322577|322625|322671|322683|322935|323324|323393|330216|861638", "text": "Pol III-related leukodystrophy" }, { - "baseId": "40123|977249|977250", + "upstreamId": "40123|977249|977250", "text": "POLR3-related leukodystrophy" }, { - "baseId": "40126|40127|40128|40133|40134|48351|48355|76664|76665|76666|76666|135484|142516|203303|268829|401080|401127|434539|445560|466359|466360|513169|529903|529907|529988|529990|529993|530240|551738|568080|570100|574025|614422|802010", + "upstreamId": "40126|40127|40128|40133|40134|48351|48355|76664|76665|76666|76666|135484|142516|203303|268829|401080|401127|434539|445560|466359|466360|513169|529903|529907|529988|529990|529993|530240|551738|568080|570100|574025|614422|802010", "text": "Episodic kinesigenic dyskinesia 1" }, { - "baseId": "40128|40129|40131|40132|40133|48352|76666|76666|268829|360996|401127|486761|574025|612309|614422|919638|919639|919640|964450|964451", + "upstreamId": "40128|40129|40131|40132|40133|48352|76666|76666|268829|360996|401127|486761|574025|612309|614422|919638|919639|919640|964450|964451", "text": "Infantile convulsions and choreoathetosis" }, { - "baseId": "40129|40131|48351|76665|76666|102388|135484|135485|142516|142517|142518|177990|192568|194540|203296|203298|203301|203302|203306|203309|203310|203311|203316|242399|264624|265740|268829|360175|360388|375084|375094|401127|401160|401889|409613|409614|441899|445558|445564|445565|464834|465541|465631|466357|466363|466366|466367|466626|491156|505578|529913|529985|530235|530236|530411|568082|568093|569809|570234|570237|570249|574025|574027|579992|621910|644575|644576|644577|644578|644579|644580|644581|644582|644583|644584|644585|644586|644587|644588|652624|652628|653013|688562|688564|693844|785253|822116|822117|843731|843732|843733|843734|843735|843736|843737|843738|843739|843740|843741|843742|843743|843744|843745|843746|843747|852107|852109|860252|860254|927767|927768|927769|927770|927771|927772|927773|937404|937405|937406|937407|937408|937409|937410|937411|949357|949358|949359|949360|949361|949362|949363|949364|949365|949366|957730|957731", + "upstreamId": "40129|40131|48351|76665|76666|102388|135484|135485|142516|142517|142518|177990|192568|194540|203296|203298|203301|203302|203306|203309|203310|203311|203316|242399|264624|265740|268829|360175|360388|375084|375094|401127|401160|401889|409613|409614|441899|445558|445564|445565|464834|465541|465631|466357|466363|466366|466367|466626|491156|505578|529913|529985|530235|530236|530411|568082|568093|569809|570234|570237|570249|574025|574027|579992|621910|644575|644576|644577|644578|644579|644580|644581|644582|644583|644584|644585|644586|644587|644588|652624|652628|653013|688562|688564|693844|785253|822116|822117|843731|843732|843733|843734|843735|843736|843737|843738|843739|843740|843741|843742|843743|843744|843745|843746|843747|852107|852109|860252|860254|927767|927768|927769|927770|927771|927772|927773|937404|937405|937406|937407|937408|937409|937410|937411|949357|949358|949359|949360|949361|949362|949363|949364|949365|949366|957730|957731", "text": "Paroxysmal kinesigenic dyskinesia" }, { - "baseId": "40130|48351|48353|48354|48355|76666|76666|181171|268829|401127|434539|491156|574025|614422|802011|802059|959507|964449", + "upstreamId": "40130|48351|48353|48354|48355|76666|76666|181171|268829|401127|434539|491156|574025|614422|802011|802059|959507|964449", "text": "Seizures, benign familial infantile, 2" }, { - "baseId": "40135|40136|330145|330154|330155|330157|330158|330160|330164|330168|330169|330170|330177|330179|330182|330184|330188|330190|330193|340348|340350|340352|340356|340359|340361|340375|340377|340386|340395|340396|340403|340404|340407|340408|340410|340412|346084|346088|346089|346094|346095|346096|346099|346100|346101|346105|346107|346109|346112|346113|346114|346119|346120|346124|346125|346128|346129|346130|347386|347387|347388|347389|347390|347394|347399|347402|347403|347406|347407|347411|347419|347420|347429|347433|347434|347437|347438|353458|353459|353460|620609|878589|878590|878591|878592|878593|878594|878595|878596|878597|878598|878599|878600|878601|878602|878603|878604|878605|878606|878607|878608|878609|878610|878611|878612|878613|878614|878615|878616|878617|878618|878619|878620|880603|880604|880605|961339", + "upstreamId": "40135|40136|330145|330154|330155|330157|330158|330160|330164|330168|330169|330170|330177|330179|330182|330184|330188|330190|330193|340348|340350|340352|340356|340359|340361|340375|340377|340386|340395|340396|340403|340404|340407|340408|340410|340412|346084|346088|346089|346094|346095|346096|346099|346100|346101|346105|346107|346109|346112|346113|346114|346119|346120|346124|346125|346128|346129|346130|347386|347387|347388|347389|347390|347394|347399|347402|347403|347406|347407|347411|347419|347420|347429|347433|347434|347437|347438|353458|353459|353460|620609|878589|878590|878591|878592|878593|878594|878595|878596|878597|878598|878599|878600|878601|878602|878603|878604|878605|878606|878607|878608|878609|878610|878611|878612|878613|878614|878615|878616|878617|878618|878619|878620|880603|880604|880605|961339", "text": "Palmoplantar keratoderma-esophageal carcinoma syndrome" }, { - "baseId": "40137|40138|40139|40140|40141|136038|136039|136040|190780|193468|194337|195277|206938|227230|250478|250480|250487|250491|270773|271183|283948|283950|283951|283953|283954|283958|284644|284649|284652|284654|284670|284678|284679|284680|284682|284683|284684|286558|286564|286573|286578|286602|286611|286615|286617|286621|286622|286626|287013|287016|287021|287033|287034|287035|287036|287037|287038|287039|359341|366304|366861|517638|557477|622866|622867|629291|629292|650936|679821|691006|697247|697248|707944|707945|719518|733073|774661|825571|825572|825573|825574|825575|825576|825577|825578|825579|825580|825581|825582|825583|825584|850872|851143|883261|883262|883263|883264|883265|883266|883267|883268|883269|883270|883271|883272|883273|883274|883275|883276|883277|883278|883279|883280|883281|883282|883283|883284|883285|883286|883287|883288|883289|883290|883291|883292|883293|883294|883295|883296|883297|883298|883299|883300|883301|883302|883303|883304|883305|883306|883307|883308|883309|887237|922514|922515|939870|942558|942559|942560|942561|952882|952883|952884|959621", + "upstreamId": "40137|40138|40139|40140|40141|136038|136039|136040|190780|193468|194337|195277|206938|227230|250478|250480|250487|250491|270773|271183|283948|283950|283951|283953|283954|283958|284644|284649|284652|284654|284670|284678|284679|284680|284682|284683|284684|286558|286564|286573|286578|286602|286611|286615|286617|286621|286622|286626|287013|287016|287021|287033|287034|287035|287036|287037|287038|287039|359341|366304|366861|517638|557477|622866|622867|629291|629292|650936|679821|691006|697247|697248|707944|707945|719518|733073|774661|825571|825572|825573|825574|825575|825576|825577|825578|825579|825580|825581|825582|825583|825584|850872|851143|883261|883262|883263|883264|883265|883266|883267|883268|883269|883270|883271|883272|883273|883274|883275|883276|883277|883278|883279|883280|883281|883282|883283|883284|883285|883286|883287|883288|883289|883290|883291|883292|883293|883294|883295|883296|883297|883298|883299|883300|883301|883302|883303|883304|883305|883306|883307|883308|883309|887237|922514|922515|939870|942558|942559|942560|942561|952882|952883|952884|959621", "text": "Joubert syndrome 14" }, { - "baseId": "40142|40143|332156|332159|332189|332192|332295|342362|342364|342373|347768|347784|347860|349152|349156|349157|349164|349168|349189|919808", + "upstreamId": "40142|40143|332156|332159|332189|332192|332295|342362|342364|342373|347768|347784|347860|349152|349156|349157|349164|349168|349189|919808", "text": "Aural atresia, congenital" }, { - "baseId": "40144|40145|40146|40147|40148|136032|254215|272201|314355|314362|314363|314369|320972|320989|320990|327038|327043|327054|327055|328129|328130|328139|328142|429245|461210|565866|567346|640172|701827|838574|838575|868150|868151|868152|868153|868154|868155|868156|868157|868158|906286", + "upstreamId": "40144|40145|40146|40147|40148|136032|254215|272201|314355|314362|314363|314369|320972|320989|320990|327038|327043|327054|327055|328129|328130|328139|328142|429245|461210|565866|567346|640172|701827|838574|838575|868150|868151|868152|868153|868154|868155|868156|868157|868158|906286", "text": "Joubert syndrome 16" }, { - "baseId": "40149|40152|404688|404689", + "upstreamId": "40149|40152|404688|404689", "text": "Retinitis pigmentosa 64" }, { - "baseId": "40150|40151|267667|275072|306077|306078|306079|306083|310085|310087|310088|310091|310095|310120|310121|315427|315432|315433|315434|315437|315438|315622|315623|315628|315629|315630|315633|315634|404691|512914|779562|790825|900550|900551|900552|900553|900554|900555|900556|900557|900558|900559|900560|900561|900562|900563|900564|900565|900566|900567|900568|900569|900570|900571|900572|900573|900574|900575|900576|900577|919179", + "upstreamId": "40150|40151|267667|275072|306077|306078|306079|306083|310085|310087|310088|310091|310095|310120|310121|315427|315432|315433|315434|315437|315438|315622|315623|315628|315629|315630|315633|315634|404691|512914|779562|790825|900550|900551|900552|900553|900554|900555|900556|900557|900558|900559|900560|900561|900562|900563|900564|900565|900566|900567|900568|900569|900570|900571|900572|900573|900574|900575|900576|900577|919179", "text": "Cone-rod dystrophy 16" }, { - "baseId": "40151|404690|424182|672021|672022", + "upstreamId": "40151|404690|424182|672021|672022", "text": "Bardet-Biedl syndrome 21" }, { - "baseId": "40153", + "upstreamId": "40153", "text": "Mitochondrial complex 4 deficiency, nuclear type 10" }, { - "baseId": "40155|171290|264319|361337|369134|369715|371086|415099|425749|425750|457147|457151|457332|457335|457749|457750|502005|511708|523071|561565|561571|590729|625974|636123|636124|636125|636126|636127|655793|692224|700030|782853|789119|798585|819870|833557|833558|833559|833560|833561|833562|924839|924840|924841|933867|933868|940876|960632", + "upstreamId": "40155|171290|264319|361337|369134|369715|371086|415099|425749|425750|457147|457151|457332|457335|457749|457750|502005|511708|523071|561565|561571|590729|625974|636123|636124|636125|636126|636127|655793|692224|700030|782853|789119|798585|819870|833557|833558|833559|833560|833561|833562|924839|924840|924841|933867|933868|940876|960632", "text": "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss" }, { - "baseId": 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+ "upstreamId": "40156|178317|178318|178319|178320|198630|236952|259858|264325|359788|363971|364240|415096|421631|428700|428701|428702|438349|438745|438779|439021|439158|441074|441075|441076|441076|441077|444115|444116|456461|456645|456647|456649|456651|456653|456661|456663|456665|456668|456669|456670|456671|456673|456675|457046|457049|457051|457053|457055|457058|457062|457064|457070|457071|457083|457085|457087|457094|457095|457106|457109|457111|457244|457247|457253|457254|457254|457257|457263|457265|457265|457274|457280|457281|457287|457290|457299|457672|457679|457681|457687|457689|457691|457694|457696|457697|457698|457701|457705|457715|457716|457722|457724|522563|522564|522568|522572|522574|522587|522590|522594|522619|522621|522852|522852|522854|522863|522869|522872|522873|522874|522878|522935|522938|522947|522948|522951|522956|522962|522975|522983|522985|522987|522996|523003|523004|523006|523009|523013|523016|523232|523239|523240|523243|523248|523250|523253|523256|536732|536733|550154|561485|561501|561504|561510|561514|561521|561529|561532|561534|561536|561538|561541|561542|561869|561871|561875|561888|561889|561891|561893|564226|564238|564242|564244|564249|564253|564258|564264|564270|566742|566750|566755|566761|566763|566767|566777|566786|566790|566792|566793|566797|566798|566800|576967|576968|576971|578457|589838|636052|636053|636054|636055|636056|636057|636058|636059|636060|636061|636062|636063|636064|636065|636066|636067|636068|636069|636070|636071|636072|636073|636074|636075|636076|636077|636078|636079|636080|636081|636082|636083|636084|636085|636086|636087|636088|636089|636090|636091|636092|636093|651613|651673|651675|651690|651699|651717|692217|700016|700017|700018|722464|722465|722466|736089|750577|750578|750581|750585|750586|750587|750589|759541|766217|766218|766219|766220|766222|766224|766226|766228|766229|766230|766233|766234|766235|766236|766238|766239|775257|777682|779329|782841|782843|787657|805540|819863|819864|819865|833500|833501|833502|833503|833504|833505|833506|833507|833508|833509|833510|833511|833512|833513|833514|833515|833516|833517|833518|833519|833520|833521|833522|833523|833524|833525|833526|833527|833528|833529|833530|833531|833532|833533|833534|833535|833536|833537|833538|851148|851150|851640|852082|861065|924818|924819|924820|924821|924822|924823|924824|924825|924826|924827|924828|924829|924830|924831|924832|924833|933839|933840|933841|933842|933843|933844|933845|933846|933847|933848|933849|933850|933851|933852|933853|933854|933855|933856|940074|945589|945590|945591|945592|945593|945594|945595|945596|945597|945598|945599|945600|945601|945602|945603|945604|955130|955131|955132|955133|955134|955135|959851|959852|959853|960631", "text": "Rigidity and multifocal seizure syndrome, lethal neonatal" }, { - "baseId": "40156|226904|259858|264325|415096|441076|444115|457254|457265|522852|590703|965277", + "upstreamId": "40156|226904|259858|264325|415096|441076|444115|457254|457265|522852|590703|965277", "text": "Neurodevelopmental disorder with cerebellar atrophy and with or without seizures" }, { - "baseId": "40157|40158|40159|40160|40161|40162|40163|190984|190986|190987|190988|190989|193454|193455|194331|195602|266811|267422|328288|328292|328298|328302|328303|328305|328306|328313|328315|328316|328318|328319|328320|328324|328327|328336|338148|338154|338157|338168|338169|338178|338185|338186|338188|338194|338195|338197|338198|338200|338202|338206|338208|338213|338217|338228|338229|338237|338241|344285|344286|344291|344293|344294|344297|344298|344299|344302|344303|344306|344307|344308|344314|344318|344319|344327|344328|344329|344331|344341|345700|345708|345711|345713|345715|345721|345722|345727|345728|345738|345739|345744|345748|345750|345751|345752|345753|345754|345755|345760|345761|345764|345765|345766|345768|345771|374952|488915|512954|512955|512956|512957|512958|590325|612106|620583|620584|620585|620586|877324|877325|877326|877327|877328|877329|877330|877331|877332|877333|877334|877335|877336|877337|877338|877339|877340|877341|877342|877343|877344|877345|877346|877347|877348|877349|877350|877351|877352|877353|877354|877355|877356|877357|877358|877359|877360|877361|877362|877363|877364|877365|877366|877367|877368|877369|877370|877371|877372|877373|877374|877375|877376|877377|877378|877379|877380|877381|877382|877383|877384|877385|877386|877387|877388|877389|877390|880510", + "upstreamId": "40157|40158|40159|40160|40161|40162|40163|190984|190986|190987|190988|190989|193454|193455|194331|195602|266811|267422|328288|328292|328298|328302|328303|328305|328306|328313|328315|328316|328318|328319|328320|328324|328327|328336|338148|338154|338157|338168|338169|338178|338185|338186|338188|338194|338195|338197|338198|338200|338202|338206|338208|338213|338217|338228|338229|338237|338241|344285|344286|344291|344293|344294|344297|344298|344299|344302|344303|344306|344307|344308|344314|344318|344319|344327|344328|344329|344331|344341|345700|345708|345711|345713|345715|345721|345722|345727|345728|345738|345739|345744|345748|345750|345751|345752|345753|345754|345755|345760|345761|345764|345765|345766|345768|345771|374952|488915|512954|512955|512956|512957|512958|590325|612106|620583|620584|620585|620586|877324|877325|877326|877327|877328|877329|877330|877331|877332|877333|877334|877335|877336|877337|877338|877339|877340|877341|877342|877343|877344|877345|877346|877347|877348|877349|877350|877351|877352|877353|877354|877355|877356|877357|877358|877359|877360|877361|877362|877363|877364|877365|877366|877367|877368|877369|877370|877371|877372|877373|877374|877375|877376|877377|877378|877379|877380|877381|877382|877383|877384|877385|877386|877387|877388|877389|877390|880510", "text": "Congenital stationary night blindness, type 1E" }, { - "baseId": "40164|788871|791288", + "upstreamId": "40164|788871|791288", "text": "Mitochondrial complex 1 deficiency, nuclear type 23" }, { - "baseId": "40175|227354|445157|504312|504579|513617|903597|972614|977266", + "upstreamId": "40175|227354|445157|504312|504579|513617|903597|972614|977266", "text": "Auditory neuropathy, autosomal dominant, 1" }, { - "baseId": "40177|40180|167373|167374|167374|167375|167376|167377|167873|167874|167875|167877|167880|167882|167883|167884|167885|167886|167888|167889|167892|167894|167898|167899|167902|167903|167905|167906|167907|192147|192857|193872|194083|194692|207263|214197|214204|214208|214208|214213|214224|214224|226694|251954|251957|251958|251959|251962|251963|259826|264270|297473|299544|299627|303719|303744|303745|303747|304067|304127|304138|368170|368486|368487|368653|369882|455193|455194|455631|455640|455653|455878|455885|501209|501355|521204|521461|521469|521796|521797|560329|560331|560333|560335|560337|560339|560341|560343|560345|560458|560460|560462|560464|563172|563173|565134|565136|565141|565142|565154|565158|633955|633957|655663|677420|677421|691858|691859|699082|699084|709906|721448|777461|932913", + "upstreamId": "40177|40180|167373|167374|167374|167375|167376|167377|167873|167874|167875|167877|167880|167882|167883|167884|167885|167886|167888|167889|167892|167894|167898|167899|167902|167903|167905|167906|167907|192147|192857|193872|194083|194692|207263|214197|214204|214208|214208|214213|214224|214224|226694|251954|251957|251958|251959|251962|251963|259826|264270|297473|299544|299627|303719|303744|303745|303747|304067|304127|304138|368170|368486|368487|368653|369882|455193|455194|455631|455640|455653|455878|455885|501209|501355|521204|521461|521469|521796|521797|560329|560331|560333|560335|560337|560339|560341|560343|560345|560458|560460|560462|560464|563172|563173|565134|565136|565141|565142|565154|565158|633955|633957|655663|677420|677421|691858|691859|699082|699084|709906|721448|777461|932913", "text": "Orofaciodigital syndrome type 6" }, { - "baseId": "40182|40183|40184|40185|40186|49901|49902|49903|135607|242440|242441|255756|255757|255758|325474|325478|325480|325489|325491|325492|335122|335125|335126|335128|335133|335139|335142|341576|341579|341580|341582|341585|341589|341597|341598|341600|341603|341608|343063|343065|343066|343067|343068|361310|401185|401188|401245|401247|401248|401249|401694|401703|401713|401947|401948|401954|401955|446891|465753|465755|466457|466461|466464|466465|466478|466481|466715|466719|466722|466724|466726|466728|495621|513359|529983|529991|530119|530122|530124|530130|530136|530140|530143|530316|530327|530332|530530|530533|567509|568143|568152|568160|568167|570198|570205|570215|570220|570231|570307|570309|570310|570313|570314|574067|574068|574069|574070|574072|574074|574076|574078|614426|644692|644693|644694|644695|644696|644697|644698|644699|644700|644701|644702|644703|644704|644705|644706|644707|652564|652727|652730|652856|653024|653026|684596|688605|693883|703697|703698|703699|726648|740204|755197|778308|820830|843880|843881|843882|843883|843884|843885|843886|843887|843888|843889|843890|843891|843892|852662|875353|875354|875355|875356|875357|875358|875359|875360|875361|875362|875363|875364|875365|876674|876675|919657|919658|920362|927822|927823|927824|927825|927826|927827|937456|937457|937458|941137|941138|949407|949408|957767|957768|960160|960161|960845|977277", + "upstreamId": "40182|40183|40184|40185|40186|49901|49902|49903|135607|242440|242441|255756|255757|255758|325474|325478|325480|325489|325491|325492|335122|335125|335126|335128|335133|335139|335142|341576|341579|341580|341582|341585|341589|341597|341598|341600|341603|341608|343063|343065|343066|343067|343068|361310|401185|401188|401245|401247|401248|401249|401694|401703|401713|401947|401948|401954|401955|446891|465753|465755|466457|466461|466464|466465|466478|466481|466715|466719|466722|466724|466726|466728|495621|513359|529983|529991|530119|530122|530124|530130|530136|530140|530143|530316|530327|530332|530530|530533|567509|568143|568152|568160|568167|570198|570205|570215|570220|570231|570307|570309|570310|570313|570314|574067|574068|574069|574070|574072|574074|574076|574078|614426|644692|644693|644694|644695|644696|644697|644698|644699|644700|644701|644702|644703|644704|644705|644706|644707|652564|652727|652730|652856|653024|653026|684596|688605|693883|703697|703698|703699|726648|740204|755197|778308|820830|843880|843881|843882|843883|843884|843885|843886|843887|843888|843889|843890|843891|843892|852662|875353|875354|875355|875356|875357|875358|875359|875360|875361|875362|875363|875364|875365|876674|876675|919657|919658|920362|927822|927823|927824|927825|927826|927827|937456|937457|937458|941137|941138|949407|949408|957767|957768|960160|960161|960845|977277", "text": "Kohlschutter's syndrome" }, { - "baseId": "40188|40189|40190|40191|40192|40193|40194|193296|205750|237436|421561|552090|614292|614293|614294|614295|677324|677325|686770|735285|788788|792754|799432|805082|920216", + "upstreamId": "40188|40189|40190|40191|40192|40193|40194|193296|205750|237436|421561|552090|614292|614293|614294|614295|677324|677325|686770|735285|788788|792754|799432|805082|920216", "text": "Trichohepatoenteric syndrome 1" }, { - "baseId": "40195|236870|497644|654888|654889", + "upstreamId": "40195|236870|497644|654888|654889", "text": "Deafness, autosomal dominant 4b" }, { - "baseId": "40200", + "upstreamId": "40200", "text": "Influenza" }, { - "baseId": "40205|40206|40207|257238|257242|257246|257247|257248|334402|486617|571106|620648", + "upstreamId": "40205|40206|40207|257238|257242|257246|257247|257248|334402|486617|571106|620648", "text": "Ciliary dyskinesia, primary, 2" }, { - "baseId": "40241|40241|40242|40243|40244|40244|40245|40246|40247|40248|48208|48209|48210|48211|48212|134731|134732|134733|134734|134735|190323|195615|195925|195926|207476|229571|252664|264316|266194|266398|266415|266881|269121|269303|270263|270439|271687|272178|272417|273054|273084|273583|273914|273915|274335|274913|275461|302410|310676|310678|359660|369708|421628|441073|455864|456460|456524|456525|456530|456532|456533|456537|456921|456927|488656|488991|488993|501707|502340|511027|521886|522255|522512|522515|522753|522824|552116|552117|561049|561051|561440|561757|561758|564183|566071|566072|566643|585148|587299|635966|635967|635968|635969|651599|651612|651663|651664|651666|651686|722433|777643|833389|833390|833391|833392|833393|833394|833395|833396|833397|924777|924778|924779|924780|933801|933802|933803|933804|945545|945546|945547|945548|945549|945550|955102|959845", + "upstreamId": "40241|40241|40242|40243|40244|40244|40245|40246|40247|40248|48208|48209|48210|48211|48212|134731|134732|134733|134734|134735|190323|195615|195925|195926|207476|229571|252664|264316|266194|266398|266415|266881|269121|269303|270263|270439|271687|272178|272417|273054|273084|273583|273914|273915|274335|274913|275461|302410|310676|310678|359660|369708|421628|441073|455864|456460|456524|456525|456530|456532|456533|456537|456921|456927|488656|488991|488993|501707|502340|511027|521886|522255|522512|522515|522753|522824|552116|552117|561049|561051|561440|561757|561758|564183|566071|566072|566643|585148|587299|635966|635967|635968|635969|651599|651612|651663|651664|651666|651686|722433|777643|833389|833390|833391|833392|833393|833394|833395|833396|833397|924777|924778|924779|924780|933801|933802|933803|933804|945545|945546|945547|945548|945549|945550|955102|959845", "text": "Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7" }, { - "baseId": "40241|40244|134731|134732|134733|134735|166226|166227|190323|195615|195925|195926|207476|252664|264316|266194|266398|266415|266881|269121|269303|270263|270439|271687|272178|272417|273054|273084|273583|273914|273915|274335|274913|275461|302410|310676|310678|359660|369708|421628|441073|455864|456460|456524|456525|456530|456532|456533|456537|456921|456927|488656|488991|488993|501707|502340|521886|522255|522512|522515|522753|522824|561049|561051|561440|561757|561758|564183|566071|566072|566643|585148|587299|635966|635967|635968|635969|651599|651612|651663|651664|651666|651686|722433|777643|788813|833389|833390|833391|833392|833393|833394|833395|833396|833397|924777|924778|924779|924780|933801|933802|933803|933804|945545|945546|945547|945548|945549|945550|955102|959845", + "upstreamId": "40241|40244|134731|134732|134733|134735|166226|166227|190323|195615|195925|195926|207476|252664|264316|266194|266398|266415|266881|269121|269303|270263|270439|271687|272178|272417|273054|273084|273583|273914|273915|274335|274913|275461|302410|310676|310678|359660|369708|421628|441073|455864|456460|456524|456525|456530|456532|456533|456537|456921|456927|488656|488991|488993|501707|502340|521886|522255|522512|522515|522753|522824|561049|561051|561440|561757|561758|564183|566071|566072|566643|585148|587299|635966|635967|635968|635969|651599|651612|651663|651664|651666|651686|722433|777643|788813|833389|833390|833391|833392|833393|833394|833395|833396|833397|924777|924778|924779|924780|933801|933802|933803|933804|945545|945546|945547|945548|945549|945550|955102|959845", "text": "Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7" }, { - "baseId": "40249|40250|40251|790438", + "upstreamId": "40249|40250|40251|790438", "text": "UV-sensitive syndrome 3" }, { - "baseId": "40272|40273|76328", + "upstreamId": "40272|40273|76328", "text": "Cortisone reductase deficiency 2" }, { - "baseId": "40274|135605|205015|512913|626177|919157", + "upstreamId": "40274|135605|205015|512913|626177|919157", "text": "Ataxia, sensory, autosomal dominant" }, { - "baseId": "40277|40278", + "upstreamId": "40277|40278", "text": "Craniodiaphyseal dysplasia, autosomal dominant" }, { - "baseId": "40280|40283|140689|362105|362106|362107|362108|362109|429590|513622|798678|798679|798680|818307|971000|980428|980430", + "upstreamId": "40280|40283|140689|362105|362106|362107|362108|362109|429590|513622|798678|798679|798680|818307|971000|980428|980430", "text": "Coenzyme Q10 deficiency, primary, 6" }, { - "baseId": "40285|40286", + "upstreamId": "40285|40286", "text": "Glutaric acidemia iic, late-onset" }, { - "baseId": "40286", + "upstreamId": "40286", "text": "Acyl-CoA dehydrogenase deficiency, glutaric acidemia type II" }, { - "baseId": "40288|40289|171002|171003|725024|791221|791222|858656|858657|965206", + "upstreamId": "40288|40289|171002|171003|725024|791221|791222|858656|858657|965206", "text": "Meconium ileus" }, { - "baseId": "40290|40291|40292|40294|79667|79668|79669|79670|79671|79672|79673|79675|79677|410301|438057|467673|467685|467691|467695|467701|468580|468584|468585|468588|468597|469031|469034|469041|469042|469045|469053|469055|469057|469061|469337|469338|469341|469344|469347|469349|469351|469368|469371|531963|531969|531977|531981|531984|531988|531990|531991|531993|531995|531999|532001|532003|532005|532007|532013|532061|532070|532072|532074|532077|532087|532351|532359|532364|532366|532372|532382|569895|569900|569903|569904|569905|569923|569924|571737|571738|571739|571741|571742|571746|572413|572416|572420|572425|574676|574677|574678|574679|574680|574681|574682|646915|646916|646917|646918|646919|646920|646921|646922|646923|646924|646925|646926|646927|646928|646929|646930|646931|646932|646933|646934|646935|646936|646937|646938|646939|646940|646941|646942|646943|646944|646945|646946|646947|646948|646949|646950|646951|646952|646953|646954|646955|646956|646957|646958|646959|652865|652869|715783|727500|727501|727502|727503|727504|741113|741114|741115|741116|741117|741118|741119|745351|756210|756211|756212|756213|771921|771922|771923|771929|771931|771932|776563|779985|785795|785796|797620|846450|846451|846452|846453|846454|846455|846456|846457|846458|846459|846460|846461|846462|846463|846464|846465|846466|846467|846468|846469|846470|846471|846472|846473|846474|846475|846476|846477|846478|846479|846480|846481|846482|846483|846484|846485|846486|852802|928600|928601|928602|928603|928604|928605|928606|928607|928608|928609|938305|938306|938307|938308|938309|938310|938311|938312|938313|938314|938315|940445|950376|950377|950378|950379|950380|950381|950382|950383|950384|958378|958379|958380|958381|958382|958383|960254", + "upstreamId": "40290|40291|40292|40294|79667|79668|79669|79670|79671|79672|79673|79675|79677|410301|438057|467673|467685|467691|467695|467701|468580|468584|468585|468588|468597|469031|469034|469041|469042|469045|469053|469055|469057|469061|469337|469338|469341|469344|469347|469349|469351|469368|469371|531963|531969|531977|531981|531984|531988|531990|531991|531993|531995|531999|532001|532003|532005|532007|532013|532061|532070|532072|532074|532077|532087|532351|532359|532364|532366|532372|532382|569895|569900|569903|569904|569905|569923|569924|571737|571738|571739|571741|571742|571746|572413|572416|572420|572425|574676|574677|574678|574679|574680|574681|574682|646915|646916|646917|646918|646919|646920|646921|646922|646923|646924|646925|646926|646927|646928|646929|646930|646931|646932|646933|646934|646935|646936|646937|646938|646939|646940|646941|646942|646943|646944|646945|646946|646947|646948|646949|646950|646951|646952|646953|646954|646955|646956|646957|646958|646959|652865|652869|715783|727500|727501|727502|727503|727504|741113|741114|741115|741116|741117|741118|741119|745351|756210|756211|756212|756213|771921|771922|771923|771929|771931|771932|776563|779985|785795|785796|797620|846450|846451|846452|846453|846454|846455|846456|846457|846458|846459|846460|846461|846462|846463|846464|846465|846466|846467|846468|846469|846470|846471|846472|846473|846474|846475|846476|846477|846478|846479|846480|846481|846482|846483|846484|846485|846486|852802|928600|928601|928602|928603|928604|928605|928606|928607|928608|928609|938305|938306|938307|938308|938309|938310|938311|938312|938313|938314|938315|940445|950376|950377|950378|950379|950380|950381|950382|950383|950384|958378|958379|958380|958381|958382|958383|960254", "text": "Psoriasis susceptibility 2" }, { - "baseId": "40290|44240|588258|646922|672278|672279|672280|672281|672306", + "upstreamId": "40290|44240|588258|646922|672278|672279|672280|672281|672306", "text": "Papulosquamous eruptions" }, { - "baseId": "40293", + "upstreamId": "40293", "text": "Psoriasis 2, pustular" }, { - "baseId": "40295|136187|136188|226676|237371|538465|622440|672100|727020|755656|797496|965999|966000|971067|971068|972796", + "upstreamId": "40295|136187|136188|226676|237371|538465|622440|672100|727020|755656|797496|965999|966000|971067|971068|972796", "text": "Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2" }, { - "baseId": 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"text": "Neuropathy, hereditary sensory and autonomic, type VI" }, { - "baseId": "40299", + "upstreamId": "40299", "text": "Skin/hair/eye pigmentation, variation in, 11" }, { - "baseId": "40312", + "upstreamId": "40312", "text": "Arrhythmogenic right ventricular dysplasia, familial, 11, with mild palmoplantar keratoderma and woolly hair" }, { - "baseId": "40313|40314|40316|40317|40318|75620|205719|538936|977166", + "upstreamId": "40313|40314|40316|40317|40318|75620|205719|538936|977166", "text": "Auriculocondylar syndrome 1" }, { - "baseId": 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"40314|40315|40316|40317|40318|75621|75622|75623|75624|75625|336466|336467|336469|336472|336474|336475|336485|336490|336492|336495|336501|336514|336517|336518|336524|336525|346175|346180|346182|346184|346189|346190|346194|346195|346197|346202|346205|346208|346210|346217|346235|346237|350485|350486|350488|350490|350492|350494|350498|350499|350500|350501|350503|350504|350509|350510|350512|350513|351540|351542|351543|351544|351545|351546|351547|351548|351549|351550|351552|351554|351556|620669|622924|886605|886606|886607|886608|886609|886610|886611|886612|886613|886614|886615|886616|886617|886618|886619|886620|886621|886622|886623|886624|886625|886626|886627|886628|886629|886630|886631|886632|886633|886634|886635|886636|886637|886638|887496|887497|887498|887499|887500|919930", "text": "Auriculocondylar syndrome 2" }, { - "baseId": "40316|336506|336511|350505|350508|350515|351559", + "upstreamId": "40316|336506|336511|350505|350508|350515|351559", "text": "Auriculocondylar syndrome" }, { - "baseId": "40326|40327|40328|40329|76338|205389|205390|205391|205392|205393|205395|205396|205397|205398|205399|205400|205401|205402|205403|206712|206715|206717|206718|277041", + "upstreamId": "40326|40327|40328|40329|76338|205389|205390|205391|205392|205393|205395|205396|205397|205398|205399|205400|205401|205402|205403|206712|206715|206717|206718|277041", "text": "Nager syndrome" }, { - "baseId": "40332|54990|54991|54993|54994|141150|141151|174125|174258|229606|229607|229608|258517|359869|395822|457066|509986|523373|523376|561808|561809|562259|562260|564493|636443|636444|636445|692331|833925|833926|833927|833928|833929|924933|934026|934027|945786|945787|955242", + "upstreamId": "40332|54990|54991|54993|54994|141150|141151|174125|174258|229606|229607|229608|258517|359869|395822|457066|509986|523373|523376|561808|561809|562259|562260|564493|636443|636444|636445|692331|833925|833926|833927|833928|833929|924933|934026|934027|945786|945787|955242", "text": "Cardiomyopathy, dilated, 2b" }, { - "baseId": "40333", + "upstreamId": "40333", "text": "Periodic fever, menstrual cycle-dependent" }, { - "baseId": "40334|40335|207136|293761|293764|293765|293775|293776|293781|293784|293785|293786|295122|295125|295128|295129|295132|295135|295136|295139|295143|295151|295152|295153|295157|295158|295159|295169|295171|298800|298801|298805|298806|298809|298813|298817|298818|298821|298822|298823|298824|298831|298836|298837|298844|298845|298846|298862|298871|298872|298873|298888|298889|298896|298897|364015|891896|891897|891898|891899|891900|891901|891902|891903|891904|891905|891906|891907|891908|891909|891910|891911|895980", + "upstreamId": "40334|40335|207136|293761|293764|293765|293775|293776|293781|293784|293785|293786|295122|295125|295128|295129|295132|295135|295136|295139|295143|295151|295152|295153|295157|295158|295159|295169|295171|298800|298801|298805|298806|298809|298813|298817|298818|298821|298822|298823|298824|298831|298836|298837|298844|298845|298846|298862|298871|298872|298873|298888|298889|298896|298897|364015|891896|891897|891898|891899|891900|891901|891902|891903|891904|891905|891906|891907|891908|891909|891910|891911|895980", "text": "Bone marrow failure syndrome 1" }, { - "baseId": "40336|195424|404686|426744|508795|681824|681825|721015|965961|965962|966034|970210", + "upstreamId": "40336|195424|404686|426744|508795|681824|681825|721015|965961|965962|966034|970210", "text": "Primary autosomal recessive microcephaly 8" }, { - "baseId": "40337|40338|40339|40340|45671|135284|135285|135286|135287|135288|135289|135290|135291|207265|207266|207268|207274|297951|297953|297954|297964|297966|297967|297968|300109|300133|300135|300140|300142|300144|300147|300149|300171|300175|304370|304371|304375|304380|304701|304707|304708|304709|304710|424377|428449|428454|551291|551292|579087|579099|579168|735155|789117|792753|816456|894598|894599|894600|894601|894602|894603|894604|894605|894606|894607|894608|894609|894610|894611|894612|894613|894614|894615|896123|896124|896125|961277", + "upstreamId": "40337|40338|40339|40340|45671|135284|135285|135286|135287|135288|135289|135290|135291|207265|207266|207268|207274|297951|297953|297954|297964|297966|297967|297968|300109|300133|300135|300140|300142|300144|300147|300149|300171|300175|304370|304371|304375|304380|304701|304707|304708|304709|304710|424377|428449|428454|551291|551292|579087|579099|579168|735155|789117|792753|816456|894598|894599|894600|894601|894602|894603|894604|894605|894606|894607|894608|894609|894610|894611|894612|894613|894614|894615|896123|896124|896125|961277", "text": "Mental retardation, autosomal recessive 5" }, { - "baseId": "40341|40342|40343|40344|40345|40345|40346|102954|102955|102955|102956|134703|134704|134705|134706|134707|134708|191060|191700|192671|192851|193053|193339|193340|227372|260921|264652|265684|266012|267172|267605|268582|272104|272285|272286|272308|324291|324299|324301|324309|324317|324319|324322|324325|324326|324328|324333|324334|324338|324339|324342|324344|324345|324346|324352|324353|324375|324376|324386|324488|324497|324498|324514|324520|324521|324523|324527|324530|324532|324536|324540|333834|333837|333844|333849|333851|333858|333873|333877|333879|333882|333887|333891|333892|333905|334016|334020|334029|334032|334050|334053|334056|334060|334063|340631|340633|340635|340640|340641|340650|340651|340652|340657|340659|340663|340698|340699|340766|340774|340776|340778|340779|340783|340787|340791|340794|340797|341985|341991|341994|341997|342005|342007|342012|342013|342023|342025|342026|342029|342037|342042|342044|342048|342050|342082|342179|342180|342181|342189|342196|360153|374632|431788|439014|439757|440216|445505|465063|465065|465130|465701|465733|465734|465928|482086|489139|491139|493895|505581|505627|512946|513803|513805|513805|513805|513806|513807|513808|513809|513810|513811|529470|529802|530053|567704|569543|570016|573743|584448|586596|588174|588786|589209|611810|613978|620535|623321|643936|693790|693791|693792|693793|693794|693799|703500|703501|703502|703503|703504|703505|703506|703508|703509|703510|714753|714755|714756|726443|726444|726446|739978|754944|760279|770562|778175|785154|791525|801565|802208|820767|843125|843126|843127|843128|843129|843130|843131|843132|843133|843134|843135|843136|843137|843138|843139|843140|843141|843142|843143|843144|843145|843146|843147|843148|843149|843150|843151|843152|843153|843154|843155|843156|843157|843191|843192|843193|843194|843196|843197|843198|843199|843200|843201|843202|843203|843204|843205|843206|852626|857280|874725|874726|874727|874728|874729|874730|874731|874732|874733|874734|874735|874736|874737|874738|874739|874740|874741|874742|874743|874744|874745|874746|874747|874748|874749|874750|874756|874795|874796|874797|874798|874799|874800|874801|874803|874804|874805|874806|876622|876623|876624|876625|876630|876631|876632|919610|927569|927570|927578|927579|937227|937228|937229|937230|937231|937232|937233|937234|937235|937236|937237|937238|937239|937240|937241|937242|937243|937244|937245|937246|937247|937248|937249|937250|937251|940344|940345|941113|941114|949176|949177|949178|949179|949180|949181|949182|949183|949184|949185|949186|949187|949188|949189|949190|949191|949192|949195|949196|949197|949198|949199|949200|949201|949202|949203|949204|949205|949206|949207|949208|957629|957630|957631|957632|957633|957634|957635|957636|957637|957638|957639|957640|957642|957643|957644|957645|957646|957647|957648|960134|960135|960136|960835|960836|960837|962700|962702|962740|962855|963175", + "upstreamId": "40341|40342|40343|40344|40345|40345|40346|102954|102955|102955|102956|134703|134704|134705|134706|134707|134708|191060|191700|192671|192851|193053|193339|193340|227372|260921|264652|265684|266012|267172|267605|268582|272104|272285|272286|272308|324291|324299|324301|324309|324317|324319|324322|324325|324326|324328|324333|324334|324338|324339|324342|324344|324345|324346|324352|324353|324375|324376|324386|324488|324497|324498|324514|324520|324521|324523|324527|324530|324532|324536|324540|333834|333837|333844|333849|333851|333858|333873|333877|333879|333882|333887|333891|333892|333905|334016|334020|334029|334032|334050|334053|334056|334060|334063|340631|340633|340635|340640|340641|340650|340651|340652|340657|340659|340663|340698|340699|340766|340774|340776|340778|340779|340783|340787|340791|340794|340797|341985|341991|341994|341997|342005|342007|342012|342013|342023|342025|342026|342029|342037|342042|342044|342048|342050|342082|342179|342180|342181|342189|342196|360153|374632|431788|439014|439757|440216|445505|465063|465065|465130|465701|465733|465734|465928|482086|489139|491139|493895|505581|505627|512946|513803|513805|513805|513805|513806|513807|513808|513809|513810|513811|529470|529802|530053|567704|569543|570016|573743|584448|586596|588174|588786|589209|611810|613978|620535|623321|643936|693790|693791|693792|693793|693794|693799|703500|703501|703502|703503|703504|703505|703506|703508|703509|703510|714753|714755|714756|726443|726444|726446|739978|754944|760279|770562|778175|785154|791525|801565|802208|820767|843125|843126|843127|843128|843129|843130|843131|843132|843133|843134|843135|843136|843137|843138|843139|843140|843141|843142|843143|843144|843145|843146|843147|843148|843149|843150|843151|843152|843153|843154|843155|843156|843157|843191|843192|843193|843194|843196|843197|843198|843199|843200|843201|843202|843203|843204|843205|843206|852626|857280|874725|874726|874727|874728|874729|874730|874731|874732|874733|874734|874735|874736|874737|874738|874739|874740|874741|874742|874743|874744|874745|874746|874747|874748|874749|874750|874756|874795|874796|874797|874798|874799|874800|874801|874803|874804|874805|874806|876622|876623|876624|876625|876630|876631|876632|919610|927569|927570|927578|927579|937227|937228|937229|937230|937231|937232|937233|937234|937235|937236|937237|937238|937239|937240|937241|937242|937243|937244|937245|937246|937247|937248|937249|937250|937251|940344|940345|941113|941114|949176|949177|949178|949179|949180|949181|949182|949183|949184|949185|949186|949187|949188|949189|949190|949191|949192|949195|949196|949197|949198|949199|949200|949201|949202|949203|949204|949205|949206|949207|949208|957629|957630|957631|957632|957633|957634|957635|957636|957637|957638|957639|957640|957642|957643|957644|957645|957646|957647|957648|960134|960135|960136|960835|960836|960837|962700|962702|962740|962855|963175", "text": "Saldino-Mainzer syndrome" }, { - "baseId": "40341|40342|40345|439752|439753|439754|439755|439756|623320|623321", + "upstreamId": "40341|40342|40345|439752|439753|439754|439755|439756|623320|623321", "text": "Retinitis pigmentosa 80" }, { - "baseId": "40345|513804", + "upstreamId": "40345|513804", "text": "Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene" }, { - "baseId": "40348|40349|40350|40351|40352|134469|134470|134471|134472|181189|207721|207722|207723|264333|308353|308354|308356|308360|308362|312805|312826|318660|318661|319245|319246|319257|319258|370434|370435|370940|371289|481858|503167|536776|564079|613400|638336|638337|692679|751718|751719|836167|836168|902078|902079|902080|902081|902082|902083|902084|902085|902086|902087|902088|902089|902090|903408|903409|934787|955859", + "upstreamId": "40348|40349|40350|40351|40352|134469|134470|134471|134472|181189|207721|207722|207723|264333|308353|308354|308356|308360|308362|312805|312826|318660|318661|319245|319246|319257|319258|370434|370435|370940|371289|481858|503167|536776|564079|613400|638336|638337|692679|751718|751719|836167|836168|902078|902079|902080|902081|902082|902083|902084|902085|902086|902087|902088|902089|902090|903408|903409|934787|955859", "text": "Pontocerebellar hypoplasia, type 1b" }, { - "baseId": 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+ "upstreamId": 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"text": "Koolen-de Vries syndrome" }, { - "baseId": "40357|40358|242820|256213|256216|328726|328732|328734|328737|328752|328755|328756|338712|344774|344776|344777|344779|344786|344792|344793|346162|346163|346168|346176|688776|877774|877775|877776|877777|877778|877779|877780|877781|877782|877783|877784", + "upstreamId": "40357|40358|242820|256213|256216|328726|328732|328734|328737|328752|328755|328756|338712|344774|344776|344777|344779|344786|344792|344793|346162|346163|346168|346176|688776|877774|877775|877776|877777|877778|877779|877780|877781|877782|877783|877784", "text": "Ciliary dyskinesia, primary, 17" }, { - "baseId": 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+ "upstreamId": "40412|40415|40416|40422|40422|134331|192381|192382|193542|193544|193545|193548|193549|205057|205058|205058|205059|229102|229103|251228|251229|251230|251231|266062|266362|266367|266544|266651|267013|267099|267266|267485|267553|268353|268535|269002|269594|269699|270827|270843|270953|271161|271547|273077|273811|274325|274429|275445|360855|367671|367673|421451|425572|428207|440827|452520|452833|452847|452849|452855|453073|453078|453085|488604|488986|490429|490672|493824|500592|519415|519423|519425|519427|519600|519606|519608|519618|519620|519650|519652|519658|519660|519666|519668|519671|519677|559044|559046|559574|559576|559578|561665|561667|561670|561676|561679|563084|563093|563095|584270|586994|588747|588928|631556|631557|631558|631559|631560|631561|631562|631563|631564|631565|631566|631567|631568|631569|631570|631571|631572|631573|631574|655559|691446|691448|691449|708929|764015|764018|781742|819407|819410|828326|828327|828328|828329|828330|828331|828332|828333|828334|828335|828336|828337|828338|828339|828340|851057|851464|923263|923264|923265|923266|923267|932014|932015|932016|932017|932018|943621|943622|943623|953540|953541|953542|960519", "text": "Limb-girdle muscular dystrophy-dystroglycanopathy, type C9" }, { - "baseId": 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+ "upstreamId": "40412|40416|40422|134331|192381|192381|192382|193542|193544|193545|193548|193549|205058|205059|205059|205060|229103|251228|251229|251230|251231|266062|266362|266367|266544|266651|267013|267099|267266|267485|267553|268353|268535|269002|269594|269699|270827|270843|270953|271161|271547|273077|273811|274325|274429|275445|360855|367671|367673|421451|425572|428207|440827|452520|452833|452847|452849|452855|453073|453078|453085|488604|488986|490429|490672|493824|500592|519415|519423|519425|519427|519600|519606|519608|519618|519620|519650|519652|519658|519660|519666|519668|519671|519677|559044|559046|559574|559576|559578|561665|561667|561670|561676|561679|563084|563093|563095|584270|586994|588747|588928|631556|631557|631558|631559|631560|631561|631562|631563|631564|631565|631566|631567|631568|631569|631570|631571|631572|631573|631574|655559|691446|691448|691449|708929|764015|764018|781742|819407|819410|828326|828327|828328|828329|828330|828331|828332|828332|828333|828334|828335|828336|828337|828338|828339|828340|851057|851464|918842|923263|923264|923265|923266|923267|932014|932015|932016|932017|932018|943621|943622|943623|953540|953541|953542|960519", "text": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 9" }, { - "baseId": "40426|178686", + "upstreamId": "40426|178686", "text": "Ventricular extrasystoles" }, { - "baseId": "40438|52111|52844", + "upstreamId": "40438|52111|52844", "text": "Increased left ventricular wall thickness" }, { - "baseId": 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"text": "Dilated cardiomyopathy 1KK" }, { - "baseId": "40451|40471", + "upstreamId": "40451|40471", "text": "Familial hypertrophic cardiomyopathy 22" }, { - "baseId": "40476", + "upstreamId": "40476", "text": "Cardiomyopathy, familial restrictive, 4" }, { - "baseId": "40515|45542|101012|101032|136049|196119|282776|282777|282793|284391|284405|284470|284584|284625|284664|320441|320444|329225|335831|335850|349393|350403", + "upstreamId": "40515|45542|101012|101032|136049|196119|282776|282777|282793|284391|284405|284470|284584|284625|284664|320441|320444|329225|335831|335850|349393|350403", "text": "Nemaline Myopathy, Recessive" }, { - "baseId": "40530|40531|40532|254103|271555|313489|313519|313534|313535|313536|313543|313546|319683|319725|319726|319733|319734|319735|319749|319750|319756|325831|325853|325854|325896|325916|325917|325922|326878", + "upstreamId": "40530|40531|40532|254103|271555|313489|313519|313534|313535|313536|313543|313546|319683|319725|319726|319733|319734|319735|319749|319750|319756|325831|325853|325854|325896|325916|325917|325922|326878", "text": "Arthrogryposis multiplex congenita distal" }, { - "baseId": "40542|40561|52584|52590", + "upstreamId": "40542|40561|52584|52590", "text": "Left ventricular noncompaction 9" }, { - "baseId": "40564|496632", + "upstreamId": "40564|496632", "text": "Ectodermal dysplasia" }, { - "baseId": "40566|40567|361219|361220", + "upstreamId": "40566|40567|361219|361220", "text": "Hamamy syndrome" }, { - "baseId": "40587", + "upstreamId": "40587", "text": "rosuvastatin response - Other" }, { - "baseId": "40587", + "upstreamId": "40587", "text": "pravastatin response - Metabolism/PK" }, { - "baseId": "40587|227779|227780", + "upstreamId": "40587|227779|227780", "text": "simvastatin response - Toxicity/ADR" }, { - "baseId": "40587", + "upstreamId": "40587", "text": "cerivastatin response - Toxicity/ADR" }, { - "baseId": "40587", + "upstreamId": "40587", "text": "hmg coa reductase inhibitors response - Toxicity/ADR, Metabolism/PK" }, { - "baseId": "40587", + "upstreamId": "40587", "text": "simvastatin acid response - Metabolism/PK" }, { - "baseId": "40594", + "upstreamId": "40594", "text": "Systemic lupus erythematosus 11" }, { - "baseId": "40602|227142|227143|227144|227145|446596|816500|971194", + "upstreamId": "40602|227142|227143|227144|227145|446596|816500|971194", "text": "Autism, susceptibility to, X-linked 6" }, { - "baseId": "40607|166050|166051|471610", + "upstreamId": "40607|166050|166051|471610", "text": "Anemia without thromobocytopenia, X-linked" }, { - "baseId": 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+ "upstreamId": 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"text": "Common variable immunodeficiency 7" }, { - "baseId": 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+ "upstreamId": "44120|44121|44122|44123|172320|172321|194445|194603|194711|195707|215300|215301|266238|267279|268892|268984|271387|271616|271971|273534|273619|359490|367907|389659|389664|413674|413675|428287|433671|433673|433674|433675|438814|452972|452979|452981|452989|452992|452995|452998|453234|453278|453280|453282|453283|453285|453364|453367|453371|453374|453376|453383|453387|453744|453753|453754|453767|453783|453788|488828|490238|490290|494128|494129|512813|512814|519735|519741|519742|519745|519751|519753|519754|519756|519758|519761|519763|519765|519767|519768|519771|519772|519774|519776|519779|519785|519788|519789|519792|520025|520028|520032|520033|520034|520035|520039|520043|520044|520046|520048|520053|520066|520067|520069|520071|520084|520088|520090|520092|520094|538366|559549|559593|559595|559597|559599|559601|559603|559605|559607|559609|559611|559613|559615|559698|559742|559744|559746|559748|559750|559752|559754|559756|559758|559760|559762|559764|559766|559768|559770|561844|561917|561919|561921|561923|561925|561928|561930|561932|561933|563479|563487|563495|563497|563502|563516|563523|563525|563536|584325|585641|585642|609526|609529|609530|614275|614276|614522|624278|624279|631956|631957|631958|631959|631960|631961|631962|631963|631964|631965|631966|631967|631968|631969|631970|631971|631972|631973|631974|631975|631976|631977|631978|631979|631980|631981|631982|631983|631984|631985|631986|631987|631988|631989|631990|631991|631992|631993|631994|631995|631996|631997|631998|631999|632000|632001|632002|632003|632004|632005|632006|632007|632008|632009|632010|632011|632012|632013|632014|632015|632016|632017|632018|632019|632020|632021|632022|632023|632024|632025|632026|632027|632028|632029|632030|632031|632032|651095|651134|651140|651141|651154|651163|651179|651269|709186|709187|709188|709190|709191|709192|709193|709194|709195|720782|720783|720784|720785|720786|720787|720788|720790|730266|730267|734482|734483|734484|734486|734487|734488|734490|748760|748761|748762|748765|748766|748769|748770|759399|764334|764335|764345|764346|764349|774892|777419|777453|781882|790439|790440|790441|792745|792746|795536|795537|799344|816311|816452|819452|819453|819454|819455|819456|828816|828817|828818|828819|828820|828821|828822|828823|828824|828825|828826|828827|828828|828829|828830|828831|828832|828833|828834|828835|828836|828837|828838|828839|828840|828841|828842|828843|828844|828845|828846|828847|828848|828849|828850|828851|828852|828853|828854|828855|828856|828857|828858|828859|828860|828861|828862|828863|828864|828865|828866|828867|828868|828869|828870|828871|828872|828873|828874|828875|828876|828877|828878|828879|828880|828881|828882|828883|851111|851485|851487|851489|851592|904222|904223|923429|923430|923431|923432|923433|923434|923435|923436|923437|923438|923439|923440|923441|923442|932181|932182|932183|932184|932185|932186|932187|932188|932189|932190|932191|932192|932193|932194|932195|932196|932197|932198|932199|932200|932201|932202|932203|932204|932205|932206|932207|932208|932209|932210|932211|939958|939959|940773|940774|940775|943816|943817|943818|943819|943820|943821|943822|943823|943824|943825|943826|943827|943828|943829|943830|943831|943832|943833|943834|943835|943836|943837|943838|943839|943840|943841|943842|943843|943844|943845|943846|943847|953682|953683|953684|953685|953686|953687|953688|953689|953690|953691|959713|960528|961936|961937|961938|961939|980913|981447", "text": "Common variable immunodeficiency 8, with autoimmunity" }, { - "baseId": "44124|44125|168580|168581|207499|207500|207502|213578|253018|359708|421648|428756|444199|457137|457148|457770|458145|458147|512830|513820|513821|523218|535385|550662|579320|579324|611689|692340|700358|750884|779458|790773|790774|798596|798597|805086|819935|834042|834043|855082|855083|855084|945823|961517|964297|969523|970871|980602", + "upstreamId": "44124|44125|168580|168581|207499|207500|207502|213578|253018|359708|421648|428756|444199|457137|457148|457770|458145|458147|512830|513820|513821|523218|535385|550662|579320|579324|611689|692340|700358|750884|779458|790773|790774|798596|798597|805086|819935|834042|834043|855082|855083|855084|945823|961517|964297|969523|970871|980602", "text": "Cornelia de Lange syndrome 4" }, { - "baseId": "44139|48175|48176|48717|48718|102593|102594|185943|206603|206604|206605|206606|206607|206608|206609|207534|244515|244516|244518|253078|359894|369436|369440|369860|369863|369865|370181|370184|370186|371716|407346|457430|457431|458042|458053|458094|458096|458099|458101|458390|458391|458393|458407|502305|502669|508749|509042|523217|523227|523228|523233|523234|523237|523489|523490|523496|523704|523705|523707|523710|523711|523720|523742|523747|539010|540451|540452|562067|562069|562071|562077|562080|562085|562086|562088|562092|562515|564815|564818|564824|564829|564831|564837|567513|567515|567518|567525|567530|567533|636787|636788|636789|636790|636791|636792|636793|636794|636795|636796|636797|636798|636799|636800|636801|636802|636803|651785|692444|692445|692447|692448|700478|700480|700481|722938|722940|766634|783038|819950|819951|834299|834300|834301|834302|834303|834304|834305|834306|834307|834308|834309|834310|834311|834312|834313|834314|834315|851185|918139|925070|925071|925072|925073|925074|925075|925076|925077|934162|934163|934164|934165|945916|945917|945918|945919|945920|945921|945922|955343|955344|967121", + "upstreamId": "44139|48175|48176|48717|48718|102593|102594|185943|206603|206604|206605|206606|206607|206608|206609|207534|244515|244516|244518|253078|359894|369436|369440|369860|369863|369865|370181|370184|370186|371716|407346|457430|457431|458042|458053|458094|458096|458099|458101|458390|458391|458393|458407|502305|502669|508749|509042|523217|523227|523228|523233|523234|523237|523489|523490|523496|523704|523705|523707|523710|523711|523720|523742|523747|539010|540451|540452|562067|562069|562071|562077|562080|562085|562086|562088|562092|562515|564815|564818|564824|564829|564831|564837|567513|567515|567518|567525|567530|567533|636787|636788|636789|636790|636791|636792|636793|636794|636795|636796|636797|636798|636799|636800|636801|636802|636803|651785|692444|692445|692447|692448|700478|700480|700481|722938|722940|766634|783038|819950|819951|834299|834300|834301|834302|834303|834304|834305|834306|834307|834308|834309|834310|834311|834312|834313|834314|834315|851185|918139|925070|925071|925072|925073|925074|925075|925076|925077|934162|934163|934164|934165|945916|945917|945918|945919|945920|945921|945922|955343|955344|967121", "text": "Brown-Vialetto-Van Laere syndrome 2" }, { - "baseId": "44165|275828|496561", + "upstreamId": "44165|275828|496561", "text": "GPSM2-Related Disorders" }, { - "baseId": "44168|44169|81402|94578|94579|141978|141979|141980|141981|239947|239948|239949|239950|239951|239952|395197|395204|395422|395424|395561|395566|395844|395848|395856|438739|455895|456309|456318|481128|481129|481418|481419|481420|481421|522145|522480|538389|560951|560955|560961|560963|560967|565836|626167|626310|635130|635131|635132|635133|635134|635135|635136|635137|651504|651594|686906|692036|798579|819746|832337|832338|832339|832340|832341|832342|832343|832344|832345|832346|852030|852296|919054|924441|924442|924443|933452|933453|933454|945170|945171|954877|954878|983820|983821", + "upstreamId": "44168|44169|81402|94578|94579|141978|141979|141980|141981|239947|239948|239949|239950|239951|239952|395197|395204|395422|395424|395561|395566|395844|395848|395856|438739|455895|456309|456318|481128|481129|481418|481419|481420|481421|522145|522480|538389|560951|560955|560961|560963|560967|565836|626167|626310|635130|635131|635132|635133|635134|635135|635136|635137|651504|651594|686906|692036|798579|819746|832337|832338|832339|832340|832341|832342|832343|832344|832345|832346|852030|852296|919054|924441|924442|924443|933452|933453|933454|945170|945171|954877|954878|983820|983821", "text": "Combined oxidative phosphorylation deficiency 10" }, { - "baseId": "44169|171703|496850|497470|497668", + "upstreamId": "44169|171703|496850|497470|497668", "text": "Mitochondrial oxidative phosphorylation disorder" }, { - "baseId": "44177", + "upstreamId": "44177", "text": "Piebaldism, progressive" }, { - "baseId": "44188|44189|44190|132010", + "upstreamId": "44188|44189|44190|132010", "text": "Digital arthropathy-brachydactyly, familial" }, { - "baseId": "44191|134566|540456|792623", + "upstreamId": "44191|134566|540456|792623", "text": "Friedreich ataxia 1" }, { - "baseId": "44194|207048|227252|363976|966033", + "upstreamId": "44194|207048|227252|363976|966033", "text": "Seckel syndrome 6" }, { - "baseId": "44195|44196|44197|44198|293686|295081|295101|298722|298726|298727|367643|453965|691595|891877|891878|891879|891880|891881|891882|891883|891887|891888|891889|953826", + "upstreamId": "44195|44196|44197|44198|293686|295081|295101|298722|298726|298727|367643|453965|691595|891877|891878|891879|891880|891881|891882|891883|891887|891888|891889|953826", "text": "Congenital disorder of glycosylation type 2k" }, { - "baseId": "44199|44200|44201|44202|44203|136352|190151|241125|248650|398572|461806|977247", + "upstreamId": "44199|44200|44201|44202|44203|136352|190151|241125|248650|398572|461806|977247", "text": "Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies" }, { - "baseId": "44209|44210|44211|44212|44213|44214|215092|260546|260549|260550|260551|691863|788780|918968|920211", + "upstreamId": "44209|44210|44211|44212|44213|44214|215092|260546|260549|260550|260551|691863|788780|918968|920211", "text": "Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency" }, { - "baseId": "44215|44216|178804|178805|313526|362358|552122|552123|651777|800721|800727|800730|800740|800741|800744|861672", + "upstreamId": "44215|44216|178804|178805|313526|362358|552122|552123|651777|800721|800727|800730|800740|800741|800744|861672", "text": "Spinal muscular atrophy-progressive myoclonic epilepsy syndrome" }, { - "baseId": "44215", + "upstreamId": "44215", "text": "ASAH1-related disorders" }, { - "baseId": "44227", + "upstreamId": "44227", "text": "NEVUS SPILUS, SOMATIC" }, { - "baseId": "44227", + "upstreamId": "44227", "text": "SPITZ NEVUS, SOMATIC" }, { - "baseId": "44228", + "upstreamId": "44228", "text": "Basal cell carcinoma, susceptibility to, 7" }, { - "baseId": "44229|44231|44232|125792|142794|142800|205195|211206|211211|211213|211216|211217|368488|368796|368996|368997|370267|370285|423256|423258|439862|481460|501650|501894|522153|560640|563459|578651|578657|584196|612352|634748|634749|634750|677424|710285|721839|735501|765571|792756|831727|831728|831729|831730|831731|831732|852020|852254|857617|904230|933241|944948|954404|970214", + "upstreamId": "44229|44231|44232|125792|142794|142800|205195|211206|211211|211213|211216|211217|368488|368796|368996|368997|370267|370285|423256|423258|439862|481460|501650|501894|522153|560640|563459|578651|578657|584196|612352|634748|634749|634750|677424|710285|721839|735501|765571|792756|831727|831728|831729|831730|831731|831732|852020|852254|857617|904230|933241|944948|954404|970214", "text": "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome" }, { - "baseId": "44234|44235|481415", + "upstreamId": "44234|44235|481415", "text": "Mitochondrial pyruvate carrier deficiency" }, { - "baseId": "44236|486704|486705|622916", + "upstreamId": "44236|486704|486705|622916", "text": "Hereditary congenital facial paresis 3" }, { - "baseId": "44237|44238|44239|204980|205785|205786|508887|983457", + "upstreamId": "44237|44238|44239|204980|205785|205786|508887|983457", "text": "Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital" }, { - "baseId": "44240|44241|44242|79667|79668|79668|79669|79670|79671|79672|79673|79675|79677|410301|438057|467673|467685|467691|467695|467701|468580|468584|468585|468588|468597|469031|469034|469041|469042|469045|469053|469055|469057|469061|469337|469338|469341|469344|469347|469349|469351|469368|469371|531963|531969|531977|531981|531984|531988|531990|531991|531993|531995|531999|532001|532003|532005|532007|532013|532061|532070|532070|532072|532074|532077|532087|532351|532359|532364|532366|532372|532382|569895|569900|569903|569904|569905|569923|569924|571737|571738|571739|571741|571742|571746|572413|572416|572420|572425|574676|574677|574678|574679|574680|574681|574682|646915|646916|646917|646918|646919|646920|646921|646922|646923|646924|646925|646926|646927|646928|646929|646930|646931|646932|646933|646934|646935|646936|646937|646938|646939|646940|646941|646942|646943|646944|646945|646946|646947|646948|646949|646950|646951|646952|646953|646954|646955|646956|646957|646958|646959|652865|652869|715783|727500|727501|727502|727503|727504|741113|741114|741115|741116|741117|741118|741119|745351|756210|756211|756212|756213|771921|771922|771923|771929|771931|771932|776563|779985|785795|785796|797620|846450|846451|846452|846453|846454|846455|846456|846457|846458|846459|846460|846461|846462|846463|846464|846465|846466|846467|846468|846469|846470|846471|846472|846473|846474|846475|846476|846477|846478|846479|846480|846481|846482|846483|846484|846485|846486|852802|928600|928601|928602|928603|928604|928605|928606|928607|928608|928609|938305|938306|938307|938308|938309|938310|938311|938312|938313|938314|938315|940445|950376|950377|950378|950379|950380|950381|950382|950383|950384|958378|958379|958380|958381|958382|958383|960254", + "upstreamId": "44240|44241|44242|79667|79668|79668|79669|79670|79671|79672|79673|79675|79677|410301|438057|467673|467685|467691|467695|467701|468580|468584|468585|468588|468597|469031|469034|469041|469042|469045|469053|469055|469057|469061|469337|469338|469341|469344|469347|469349|469351|469368|469371|531963|531969|531977|531981|531984|531988|531990|531991|531993|531995|531999|532001|532003|532005|532007|532013|532061|532070|532070|532072|532074|532077|532087|532351|532359|532364|532366|532372|532382|569895|569900|569903|569904|569905|569923|569924|571737|571738|571739|571741|571742|571746|572413|572416|572420|572425|574676|574677|574678|574679|574680|574681|574682|646915|646916|646917|646918|646919|646920|646921|646922|646923|646924|646925|646926|646927|646928|646929|646930|646931|646932|646933|646934|646935|646936|646937|646938|646939|646940|646941|646942|646943|646944|646945|646946|646947|646948|646949|646950|646951|646952|646953|646954|646955|646956|646957|646958|646959|652865|652869|715783|727500|727501|727502|727503|727504|741113|741114|741115|741116|741117|741118|741119|745351|756210|756211|756212|756213|771921|771922|771923|771929|771931|771932|776563|779985|785795|785796|797620|846450|846451|846452|846453|846454|846455|846456|846457|846458|846459|846460|846461|846462|846463|846464|846465|846466|846467|846468|846469|846470|846471|846472|846473|846474|846475|846476|846477|846478|846479|846480|846481|846482|846483|846484|846485|846486|852802|928600|928601|928602|928603|928604|928605|928606|928607|928608|928609|938305|938306|938307|938308|938309|938310|938311|938312|938313|938314|938315|940445|950376|950377|950378|950379|950380|950381|950382|950383|950384|958378|958379|958380|958381|958382|958383|960254", "text": "Pityriasis rubra pilaris" }, { - "baseId": "44243|44244|44245|44246|44247|626010|626011", + "upstreamId": "44243|44244|44245|44246|44247|626010|626011", "text": "John Milton Hagen blood group system" }, { - "baseId": "44263", + "upstreamId": "44263", "text": "Distal hereditary motor neuronopathy type 5B" }, { - "baseId": 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+ "upstreamId": "44264|44265|44266|195762|195763|215400|253539|253540|253541|253542|253543|253545|253546|270363|308277|312667|312668|312675|312676|312677|312679|318573|318576|318582|318584|318590|319104|319106|319107|319110|319113|359934|359936|370379|370393|370401|370405|370411|370414|370423|370893|370911|370920|371240|371248|371251|371267|372984|373011|373013|373014|373031|407693|407694|407697|407698|421755|421757|425847|434630|444480|444481|444482|444483|444485|458117|459163|459171|459172|459185|459187|459189|459489|459494|459497|459498|459503|459506|459507|459564|459565|459566|459567|459571|459576|459578|459588|460044|460045|460047|460049|460050|460056|460059|502932|503122|503145|503394|524572|524574|524579|524592|524596|524832|524836|524838|524958|524962|524965|525118|525120|525122|536775|563234|563235|563239|563243|563244|563248|563249|563252|563975|563981|563996|563997|564005|564008|564013|564014|565891|565899|565900|565902|568290|569036|569042|569044|569048|569049|569050|569056|569059|569060|569068|576132|611719|614344|614345|620330|638235|638236|638237|638238|638239|638240|638241|638242|638243|638244|638245|638246|638247|638248|638249|638250|638251|638252|638253|638254|638255|638256|638257|638258|638259|638260|638261|638262|638263|638264|638265|638266|638267|638268|638269|638270|638271|638272|638273|638274|638275|638276|638277|638278|677978|682630|711956|723560|737123|737124|751693|751695|767399|836101|836102|836103|836104|836105|836106|836107|836108|836109|836110|836111|836112|836113|836114|836115|836116|836117|836118|836119|836120|836121|836122|836123|836124|836125|836126|836127|836128|836129|836130|901993|901994|901995|901996|901997|901998|901999|902000|902001|902002|902003|902004|902005|902006|902007|902008|919229|925573|925574|925575|925576|925577|925578|925579|925580|925581|925582|925583|925584|925585|925586|925587|934754|934755|934756|934757|934758|934759|934760|934761|934762|934763|946606|946607|946608|946609|946610|946611|946612|946613|946614|946615|946616|946617|946618|946619|946620|946621|946622|946623|946624|946625|946626|946627|946628|946629|946630|955818|955819|955820|955821|955822|955823|955824|955825|955826|972723|972724|977239|977240", "text": "Hyperphosphatasia with mental retardation syndrome 2" }, { - "baseId": "44274|45135|136967|244232|263179|263213|263236|263381|263385|263413|377390|514008|514009|514060|590042|590043|590090|801222|962913", + "upstreamId": "44274|45135|136967|244232|263179|263213|263236|263381|263385|263413|377390|514008|514009|514060|590042|590043|590090|801222|962913", "text": "12 conditions" }, { - "baseId": "44309|44625|44626|44627|44628|44629|45278|45279|45281|45282|45283|45285|45287|45288|107214|197402|197785|209442|210277|259943|397515|414860|539730|611797|621103|621523|621713|906046", + "upstreamId": "44309|44625|44626|44627|44628|44629|45278|45279|45281|45282|45283|45285|45287|45288|107214|197402|197785|209442|210277|259943|397515|414860|539730|611797|621103|621523|621713|906046", "text": "Familial aortopathy" }, { - "baseId": "44359|254603|254604|254605|254606|317483|317493|317494|317499|317501|317502|317504|317508|317510|317511|317513|317514|317515|317520|317522|317523|317525|317526|317534|317540|317541|317543|325345|325347|325349|325364|325371|325375|325376|325379|331604|331608|331612|331613|331615|333072|333076|333080|333081|333084|333088|333101|333111|333114|422801|434768|620444|725136|725138|738689|753440|769168|769169|816507|869980|869981|869982|869983|869984|869985|869986|869987|869988|869989|869990|869991|869992|869993|869994|869995|869996|869997|869998|869999|870000|870001|870002|870003|870004|870005|870006|870007|870008|870009|870010|870011|870012|870013|870014|870015|870016|870017|870018|870019|870020|872251|872252|962731", + "upstreamId": "44359|254603|254604|254605|254606|317483|317493|317494|317499|317501|317502|317504|317508|317510|317511|317513|317514|317515|317520|317522|317523|317525|317526|317534|317540|317541|317543|325345|325347|325349|325364|325371|325375|325376|325379|331604|331608|331612|331613|331615|333072|333076|333080|333081|333084|333088|333101|333111|333114|422801|434768|620444|725136|725138|738689|753440|769168|769169|816507|869980|869981|869982|869983|869984|869985|869986|869987|869988|869989|869990|869991|869992|869993|869994|869995|869996|869997|869998|869999|870000|870001|870002|870003|870004|870005|870006|870007|870008|870009|870010|870011|870012|870013|870014|870015|870016|870017|870018|870019|870020|872251|872252|962731", "text": "Nephrogenic diabetes insipidus, autosomal" }, { - "baseId": "44478|917573", + "upstreamId": "44478|917573", "text": "Hyperimmunoglobulin M syndrome" }, { - "baseId": "44503", + "upstreamId": "44503", "text": "Abnormality of the pancreas" }, { - "baseId": "44531|54320|212669|221599|256485|263269|263407|314659|314694|327517|328543|457637|481525|800839|800971|800972|800973|857358|858674|858675|858676|858677|858680|858681|858682|858683|858684|858687|858688|858689|858690|966128|966129|966130|966131|966132|966133|966134|966135|966136|966137|966138|966139|984045", + "upstreamId": "44531|54320|212669|221599|256485|263269|263407|314659|314694|327517|328543|457637|481525|800839|800971|800972|800973|857358|858674|858675|858676|858677|858680|858681|858682|858683|858684|858687|858688|858689|858690|966128|966129|966130|966131|966132|966133|966134|966135|966136|966137|966138|966139|984045", "text": "Male infertility" }, { - "baseId": "44665|44666|44667|45110|45111|45112|51095|53044|53047|53048|53049|53400|53401|53409|53410|53412|53419|53422|53425|53429|53430|53432|53438|53439|53440|53952|54696|101340|141809|173494|173631|175036|177852|195708|195709|198108|198236|229942|265307|265509|267704|267980|273196|284791|284792|284793|285474|285481|285482|287689|287699|287976|295481|295485|295486|295488|297261|297264|297267|297276|301110|301111|301112|301113|301277|302297|302312|302314|302318|302323|302325|302328|302331|302334|305507|305508|305522|305535|310338|310339|310367|310369|310440|310446|310467|310473|310479|310480|311447|311448|311449|312347|312348|312350|314358|314360|314364|317037|317039|317040|317041|317042|318236|320397|320409|323019|323021|323578|323593|323602|323607|323616|325066|353560", + "upstreamId": "44665|44666|44667|45110|45111|45112|51095|53044|53047|53048|53049|53400|53401|53409|53410|53412|53419|53422|53425|53429|53430|53432|53438|53439|53440|53952|54696|101340|141809|173494|173631|175036|177852|195708|195709|198108|198236|229942|265307|265509|267704|267980|273196|284791|284792|284793|285474|285481|285482|287689|287699|287976|295481|295485|295486|295488|297261|297264|297267|297276|301110|301111|301112|301113|301277|302297|302312|302314|302318|302323|302325|302328|302331|302334|305507|305508|305522|305535|310338|310339|310367|310369|310440|310446|310467|310473|310479|310480|311447|311448|311449|312347|312348|312350|314358|314360|314364|317037|317039|317040|317041|317042|318236|320397|320409|323019|323021|323578|323593|323602|323607|323616|325066|353560", "text": "Myofibrillar Myopathy, Dominant" }, { - "baseId": "44674|54130|54804|55576|56375", + "upstreamId": "44674|54130|54804|55576|56375", "text": "Systolic heart failure" }, { - "baseId": "44729", + "upstreamId": "44729", "text": "FNB1 POLYMORPHISM" }, { - "baseId": "44740|51466|51525|171178|197619|258907|262311|262312|262313|362492|362493|433137|511551|609191|609192|609193|609194|609197|609198|609199|609200|609231|609232|609233|609234|609235|609236", + "upstreamId": "44740|51466|51525|171178|197619|258907|262311|262312|262313|362492|362493|433137|511551|609191|609192|609193|609194|609197|609198|609199|609200|609231|609232|609233|609234|609235|609236", "text": "Acute aortic dissection" }, { - "baseId": "44866|44870|44872|44877|44886|44899|44906|134593|207485|252883|252884|302335|303069|303070|303071|303072|303073|303074|306341|306342|306345|306346|306347|306348|311169|311170|311172|311173|311302|311303|311306|311310|311312|428735|428737|428738|441126|759683|898116|898117|898118|898119|898120|898121|898122|898123|898124|898125|898126|898127|898128|898129|898130|898131|898132|898133|898134|900365|900366|900367|900368", + "upstreamId": "44866|44870|44872|44877|44886|44899|44906|134593|207485|252883|252884|302335|303069|303070|303071|303072|303073|303074|306341|306342|306345|306346|306347|306348|311169|311170|311172|311173|311302|311303|311306|311310|311312|428735|428737|428738|441126|759683|898116|898117|898118|898119|898120|898121|898122|898123|898124|898125|898126|898127|898128|898129|898130|898131|898132|898133|898134|900365|900366|900367|900368", "text": "Transient Neonatal Diabetes, Recessive" }, { - "baseId": "44922|134586|134590|134591|134592", + "upstreamId": "44922|134586|134590|134591|134592", "text": "Gestational diabetes" }, { - "baseId": "44937|44938|44939|44940", + "upstreamId": "44937|44938|44939|44940", "text": "Idiopathic growth hormone deficiency" }, { - "baseId": "44974", + "upstreamId": "44974", "text": "Beta-thalassemia, lermontov type" }, { - "baseId": "45009|165951|165951|165951|577852|677318|791984|816509|919914", + "upstreamId": "45009|165951|165951|165951|577852|677318|791984|816509|919914", "text": "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young" }, { - "baseId": "45028|165951|360928", + "upstreamId": "45028|165951|360928", "text": "Hyperinsulinemia" }, { - "baseId": "45034|45036|45037|45038|45039|45040", + "upstreamId": "45034|45036|45037|45038|45039|45040", "text": "Interferon gamma receptor deficiency" }, { - "baseId": "45062|134725|254105|254106|254108|313620|313624|313632|319803|319804|319810|319823|319825|319828|325998|326005|326977|326978|326979|326982|326983|737916|867734|868641", + "upstreamId": "45062|134725|254105|254106|254108|313620|313624|313632|319803|319804|319810|319823|319825|319828|325998|326005|326977|326978|326979|326982|326983|737916|867734|868641", "text": "Transient Neonatal Diabetes, Dominant/Recessive" }, { - "baseId": "45092|77991|78500|78501|78942", + "upstreamId": "45092|77991|78500|78501|78942", "text": "Torsades de pointes" }, { - "baseId": "45132|141819|250744|250745|250746|286691|286693|286694|286696|286697|286699|286700|286702|287404|287405|287406|287407|287408|287411|287412|287413|289835|289853|289854|289855|289856|289857|289858|289860|290209|290210|290213|290214|290216|802093", + "upstreamId": "45132|141819|250744|250745|250746|286691|286693|286694|286696|286697|286699|286700|286702|287404|287405|287406|287407|287408|287411|287412|287413|289835|289853|289854|289855|289856|289857|289858|289860|290209|290210|290213|290214|290216|802093", "text": "Hypergonadotropic hypogonadism" }, { - "baseId": "45135|77752", + "upstreamId": "45135|77752", "text": "Heart-hand syndrome, Slovenian type" }, { - "baseId": "45181|45186|50293|50294|102143|102146|102147|139878|139881|171148|171149|186157|186158|197521|212930|212936|212945|241193|254243|314528|314532|314540|314541|314543|314544|314549|314551|314552|321246|321250|321251|327382|327388|327389|327391|327398|327399|327400|328432|328438|328439|328445|328454|328456|328457|398322|398877|476473|806433|868255|868256|868257|868258|868259|868260|868261|868262|868263", + "upstreamId": "45181|45186|50293|50294|102143|102146|102147|139878|139881|171148|171149|186157|186158|197521|212930|212936|212945|241193|254243|314528|314532|314540|314541|314543|314544|314549|314551|314552|321246|321250|321251|327382|327388|327389|327391|327398|327399|327400|328432|328438|328439|328445|328454|328456|328457|398322|398877|476473|806433|868255|868256|868257|868258|868259|868260|868261|868262|868263", "text": "Hyperparathyroidism" }, { - "baseId": "45234|394626", + "upstreamId": "45234|394626", "text": "Malignant tumor of ascending colon" }, { - "baseId": "45287|101110|135555|142037|142040|142041|142042|142043|142045|142046|142050|142053|142060|194229|194230|197842|197852|197854|197875|197877|197879|255472|258971|265689|301318|301348|301371|304551|304556|304557|304558|309178|309179|309186|309190|309265|309277|309305|324371|324392|324398|324399|324400|324401|324406|324408|324411|324412|324414|324420|324429|324430|324437|324455|324464|324466|324467|333924|333925|333941|333944|333947|333948|333949|333951|333954|333965|333966|333972|333975|333980|333982|333983|333984|333987|340666|340676|340690|340695|340696|340703|340704|340706|340709|340721|340722|340727|340730|340731|342066|342077|342109|342111|342118|342121|342125|342130|342138|342139|342141|342151|342155|342156|342160|342168", + "upstreamId": "45287|101110|135555|142037|142040|142041|142042|142043|142045|142046|142050|142053|142060|194229|194230|197842|197852|197854|197875|197877|197879|255472|258971|265689|301318|301348|301371|304551|304556|304557|304558|309178|309179|309186|309190|309265|309277|309305|324371|324392|324398|324399|324400|324401|324406|324408|324411|324412|324414|324420|324429|324430|324437|324455|324464|324466|324467|333924|333925|333941|333944|333947|333948|333949|333951|333954|333965|333966|333972|333975|333980|333982|333983|333984|333987|340666|340676|340690|340695|340696|340703|340704|340706|340709|340721|340722|340727|340730|340731|342066|342077|342109|342111|342118|342121|342125|342130|342138|342139|342141|342151|342155|342156|342160|342168", "text": "Lissencephaly, Recessive" }, { - "baseId": "45290|45320|53666|175563|178504|263260|320355|322278|322281|322290|322292|322305|322315|322319|322320|322321|328966|331578|331581|331583|331587|331597|331610|331619|331628|331630|331646|335616|335619|335627|335628|337435|338527|338558|338582|338583|338588|338608|338610|338614|338623|340274|340279|340282|340299|340308|340311|340314|340316|340327|340328|340329|340336|340337|389561|513956|513978|514135|805068|805119", + "upstreamId": "45290|45320|53666|175563|178504|263260|320355|322278|322281|322290|322292|322305|322315|322319|322320|322321|328966|331578|331581|331583|331587|331597|331610|331619|331628|331630|331646|335616|335619|335627|335628|337435|338527|338558|338582|338583|338588|338608|338610|338614|338623|340274|340279|340282|340299|340308|340311|340314|340316|340327|340328|340329|340336|340337|389561|513956|513978|514135|805068|805119", "text": "Atrial septal defect" }, { - "baseId": "45321", + "upstreamId": "45321", "text": "Atrial septal defect-atrioventricular conduction defects syndrome" }, { - "baseId": "45358", + "upstreamId": "45358", "text": "PRKAG2 cardiac syndrome" }, { - "baseId": "45375|269282|620400", + "upstreamId": "45375|269282|620400", "text": "RAG1-Related Disorders" }, { - "baseId": "45377|45379|408345|488105|488117", + "upstreamId": "45377|45379|408345|488105|488117", "text": "Atypical severe combined immunodeficiency due to complete RAG1/2 deficiency" }, { - "baseId": "45426|178601", + "upstreamId": "45426|178601", "text": "Pulmonary valve stenosis (rare)" }, { - "baseId": "45429|239836", + "upstreamId": "45429|239836", "text": "Paraganglioma" }, { - "baseId": "45432|45433|52528|57274|57275|57276|57277|57278|57279|57280|57281|57284|57289|174409|174410|174412|193416|198172|296515|296516|296528|296529|296535|296537|296543|296544|296547|296549|296550|296551|296552|296559|296560|296561|296562|296565|296566|296570|296571|296573|296574|296576|296581|296584|296585|296589|296597|296598|296602|296603|296607|296618|296619|296624|298425|298426|298435|298442|298448|298449|298456|298457|298459|298460|298461|298462|298471|298472|298473|298477|298479|298480|298481|298482|298483|298487|298488|298489|298490|302528|302530|302531|302540|302541|302542|302543|302562|302564|302565|302566|302582|302583|302596|302597|302598|302599|302602|302603|302604|302605|302606|302607|302625|302802|302803|302804|302806|302807|302814|302815|302816|302817|302820|302821|302822|302823|302824|302825|302826|302827|302828|302829|302830|302831|302832|302833|302834|302836|302839|302876|302882|302886|302887|302903|302904|302905|302906|302909|302910|302911|302912|302913|302914|368457|454842|501223|893644|893645|893646|893647|893648|893649|893650|893651|893652|893653|893654|893655|893656|893657|893658|893659|893660|893661|893662|893663|893664|893665|893666|893667|893668|893669|893670|893671|893672|893673|893674|893675|893676|893677|893678|893679|893680|893681|893682|893683|893684|893685|893686|893687|893688|893689|893690|893691|893692|893693|893694|893695|893696|893697|893698|893699|893700|893701|893702|893703|893704|893705|893706|893707|893708|893709|896067", + "upstreamId": "45432|45433|52528|57274|57275|57276|57277|57278|57279|57280|57281|57284|57289|174409|174410|174412|193416|198172|296515|296516|296528|296529|296535|296537|296543|296544|296547|296549|296550|296551|296552|296559|296560|296561|296562|296565|296566|296570|296571|296573|296574|296576|296581|296584|296585|296589|296597|296598|296602|296603|296607|296618|296619|296624|298425|298426|298435|298442|298448|298449|298456|298457|298459|298460|298461|298462|298471|298472|298473|298477|298479|298480|298481|298482|298483|298487|298488|298489|298490|302528|302530|302531|302540|302541|302542|302543|302562|302564|302565|302566|302582|302583|302596|302597|302598|302599|302602|302603|302604|302605|302606|302607|302625|302802|302803|302804|302806|302807|302814|302815|302816|302817|302820|302821|302822|302823|302824|302825|302826|302827|302828|302829|302830|302831|302832|302833|302834|302836|302839|302876|302882|302886|302887|302903|302904|302905|302906|302909|302910|302911|302912|302913|302914|368457|454842|501223|893644|893645|893646|893647|893648|893649|893650|893651|893652|893653|893654|893655|893656|893657|893658|893659|893660|893661|893662|893663|893664|893665|893666|893667|893668|893669|893670|893671|893672|893673|893674|893675|893676|893677|893678|893679|893680|893681|893682|893683|893684|893685|893686|893687|893688|893689|893690|893691|893692|893693|893694|893695|893696|893697|893698|893699|893700|893701|893702|893703|893704|893705|893706|893707|893708|893709|896067", "text": "Qualitative or quantitative defects of delta-sarcoglycan" }, { - "baseId": "45445|153769|153770|153771|226683|226684|226685|226686|226687|226688|226689|226690|505914|537283|920371|961975|964480|965234", + "upstreamId": "45445|153769|153770|153771|226683|226684|226685|226686|226687|226688|226689|226690|505914|537283|920371|961975|964480|965234", "text": "Autoimmune disease, multisystem, infantile-onset, 1" }, { - "baseId": "45523|360895|360980|467795|514126|536138|536151|536160|536186|536187|678119", + "upstreamId": "45523|360895|360980|467795|514126|536138|536151|536160|536186|536187|678119", "text": "Dilatation" }, { - "baseId": "45523|360895|551447|551448|551449|551450|551451|551452|551453|551454|551455|551456|551457|551458", + "upstreamId": "45523|360895|551447|551448|551449|551450|551451|551452|551453|551454|551455|551456|551457|551458", "text": "Dilatation of ascending aorta" }, { - "baseId": "45589", + "upstreamId": "45589", "text": "Epilepsy, progressive myoclonic, 3, with intracellular inclusions" }, { - "baseId": "45612|267428|459890|459893|692773|692774|701198|701199|751971|836650", + "upstreamId": "45612|267428|459890|459893|692773|692774|701198|701199|751971|836650", "text": "Microphthalmia, syndromic 11" }, { - "baseId": "45613|45623|45624|97522|195940|205311|205791|379288|424668|446035|469909|488161|533138|550636|572021|572231|572931|611430|647719|647720|647721|647722|653449|694334|694335|704762|704763|716186|821239|822156|847322|847323|847324|917291|917553|941225|958545|964504|964886|971113", + "upstreamId": "45613|45623|45624|97522|195940|205311|205791|379288|424668|446035|469909|488161|533138|550636|572021|572231|572931|611430|647719|647720|647721|647722|653449|694334|694335|704762|704763|716186|821239|822156|847322|847323|847324|917291|917553|941225|958545|964504|964886|971113", "text": "Sotos syndrome 2" }, { - "baseId": "45613|45614|45615|45616|45617|45618|45619|45620|45621|45622|195940|205311|205311|208537|208538|379288|430127|469909|480574|533138|572021|572231|572931|611430|612165|647719|647720|647721|647722|653449|679805|679863|694334|694335|704762|704763|716186|791898|791899|791900|821239|822156|847322|847323|847324|855085|855086|855087|919823|919824|919825|941225|958545", + "upstreamId": "45613|45614|45615|45616|45617|45618|45619|45620|45621|45622|195940|205311|205311|208537|208538|379288|430127|469909|480574|533138|572021|572231|572931|611430|612165|647719|647720|647721|647722|653449|679805|679863|694334|694335|704762|704763|716186|791898|791899|791900|821239|822156|847322|847323|847324|855085|855086|855087|919823|919824|919825|941225|958545", "text": "Marshall-Smith syndrome" }, { - "baseId": "45627|45628|192146|196059|230343|240659|254710|254711|254712|254713|254714|257184|260034|267190|318341|318346|318347|318351|326407|326412|326414|326431|326433|326437|326441|326442|326445|326457|326463|326465|326468|326472|332708|332712|332713|332714|332722|332730|332734|334311|334327|334331|334333|334334|334336|334340|334345|334347|334348|373254|389156|488858|769292|776114|788076|870341|870342|870343|870344|870345|870346|870347|870348|870349|870350|870351|870352|870353|870354|870355|870356|870357|870358|870359|870360|870361|870362|870363|870364|870365|870366|870367|870368|870369|872285|872286|919467|962989|962990|962991|962992|962993|962994|962995|962996|962997|962998|962999|963000|963001|963002", + "upstreamId": "45627|45628|192146|196059|230343|240659|254710|254711|254712|254713|254714|257184|260034|267190|318341|318346|318347|318351|326407|326412|326414|326431|326433|326437|326441|326442|326445|326457|326463|326465|326468|326472|332708|332712|332713|332714|332722|332730|332734|334311|334327|334331|334333|334334|334336|334340|334345|334347|334348|373254|389156|488858|769292|776114|788076|870341|870342|870343|870344|870345|870346|870347|870348|870349|870350|870351|870352|870353|870354|870355|870356|870357|870358|870359|870360|870361|870362|870363|870364|870365|870366|870367|870368|870369|872285|872286|919467|962989|962990|962991|962992|962993|962994|962995|962996|962997|962998|962999|963000|963001|963002", "text": "Fraser syndrome 3" }, { - "baseId": "45631|45632", + "upstreamId": "45631|45632", "text": "Uric acid concentration, serum, quantitative trait locus 4" }, { - "baseId": "45672|45673|45674|213522|247397|424639|550582|551280|590570|590571|590572|590573|590574|590575|590576|622314|678058|707518|789998|918649|918650|918651|918652|920153|920154|961253|961588|964804|969701|970518|972710|976643", + "upstreamId": "45672|45673|45674|213522|247397|424639|550582|551280|590570|590571|590572|590573|590574|590575|590576|622314|678058|707518|789998|918649|918650|918651|918652|920153|920154|961253|961588|964804|969701|970518|972710|976643", "text": "Cerebellar ataxia, nonprogressive, with mental retardation" }, { - "baseId": "45680|205070|256668|256669|256671|256672|256675|256678|256679|256680|469786|532291|532304|647286|647287|704617|704618|704619|950536|950537|950538|950539|958474", + "upstreamId": "45680|205070|256668|256669|256671|256672|256675|256678|256679|256680|469786|532291|532304|647286|647287|704617|704618|704619|950536|950537|950538|950539|958474", "text": "Heterotaxy, visceral, 6, autosomal" }, { - "baseId": "45690|508946|508947", + "upstreamId": "45690|508946|508947", "text": "Mental retardation, X-linked, syndromic, martin-probst type" }, { - "baseId": "45707|47507|47508|207990|578658|581209", + "upstreamId": "45707|47507|47508|207990|578658|581209", "text": "Dentatorubral-pallidoluysian atrophy" }, { - "baseId": "45720|45721|45722|45723", + "upstreamId": "45720|45721|45722|45723", "text": "Amyotrophic lateral sclerosis 18" }, { - "baseId": "45724|213624", + "upstreamId": "45724|213624", "text": "Multiple sclerosis, susceptibility to, 5" }, { - "baseId": "45726|48099|181401|181460|202291|205386|361063|361064|361073|361074|361075|361076|801217", + "upstreamId": "45726|48099|181401|181460|202291|205386|361063|361064|361073|361074|361075|361076|801217", "text": "Neurodegeneration" }, { - "baseId": "45728|200974|259235|424188|424189|425207|425208|513512|613401|861670|963435|964991", + "upstreamId": "45728|200974|259235|424188|424189|425207|425208|513512|613401|861670|963435|964991", "text": "Short stature, optic nerve atrophy, and Pelger-Huet anomaly" }, { - "baseId": "45733|45734|514235|514236|514237", + "upstreamId": "45733|45734|514235|514236|514237", "text": "Adams-Oliver syndrome 3" }, { - "baseId": "45735", + "upstreamId": "45735", "text": "Macroglobulinemia, waldenstrom, somatic" }, { - "baseId": "45736|45737|45738|45739|45740|136024|136025|205165|207805|207806|214308|253957|253958|371008|371651|373633|460703|491337|502973|502978|502979|503869|525534|525632|525633|639327|639328|639329|724132|804670|919309|925987|935259", + "upstreamId": "45736|45737|45738|45739|45740|136024|136025|205165|207805|207806|214308|253957|253958|371008|371651|373633|460703|491337|502973|502978|502979|503869|525534|525632|525633|639327|639328|639329|724132|804670|919309|925987|935259", "text": "Orofacial-digital syndrome IV" }, { - "baseId": "45741|136024|136025|207805|207806|214308|214308|253957|253958|371008|371651|373633|460703|491337|502973|502978|502979|503869|525534|525632|525633|639327|639328|639329|724132|925987|935259", + "upstreamId": "45741|136024|136025|207805|207806|214308|214308|253957|253958|371008|371651|373633|460703|491337|502973|502978|502979|503869|525534|525632|525633|639327|639328|639329|724132|925987|935259", "text": "Joubert syndrome 18" }, { - "baseId": "45742|45743|578423|612267|653861|984049|984050", + "upstreamId": "45742|45743|578423|612267|653861|984049|984050", "text": "Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis" }, { - "baseId": "45742", + "upstreamId": "45742", "text": "Primordial dwarfism" }, { - "baseId": "45747|45748|45749|45750|45751|168851|168852|168854|168858|168859|178382|178384|178386|189077|205767|207816|207817|213605|213606|213607|213608|264585|359911|361201|362433|362437|362438|362442|364273|408285|421828|424353|424489|424701|425906|429172|429173|429174|434105|439883|444733|481237|495699|513312|513437|513719|513720|514622|552149|553178|553179|611405|653878|653879|677432|678941|682816|791103|791104|791105|791106|791107|791108|791109|791110|791111|791112|791113|798636|798637|805092|805093|805094|815992|816523|861636|903575|919320|919321|919322|963156|963718|963721|964355|969778|969783|969790|970928|970929|977245|983850", + "upstreamId": "45747|45748|45749|45750|45751|168851|168852|168854|168858|168859|178382|178384|178386|189077|205767|207816|207817|213605|213606|213607|213608|264585|359911|361201|362433|362437|362438|362442|364273|408285|421828|424353|424489|424701|425906|429172|429173|429174|434105|439883|444733|481237|495699|513312|513437|513719|513720|514622|552149|553178|553179|611405|653878|653879|677432|678941|682816|791103|791104|791105|791106|791107|791108|791109|791110|791111|791112|791113|798636|798637|805092|805093|805094|815992|816523|861636|903575|919320|919321|919322|963156|963718|963721|964355|969778|969783|969790|970928|970929|977245|983850", "text": "Wiedemann-Steiner syndrome" }, { - "baseId": "45756|45759|101173|143120|143121|143122|143123|190474|191228|191383|191385|191386|191387|191390|191391|191392|191393|191394|195689|195690|195977|223606|237012|250117|250119|250120|250130|250131|250133|250135|250138|266450|266537|266975|271804|271885|282377|282381|282384|283817|283821|283844|283873|284081|284088|437660|448555|448667|448763|511313|513019|516361|558707|559192|559194|587219|587220|628420|628421|628422|628423|690714|690715|690718|690719|690724|690725|690728|696993|696994|696997|707697|707699|719215|719216|719218|746754|805075|824722|824723|824724|922230|942218|962151|964162|964163|969600|970706|970707", + "upstreamId": "45756|45759|101173|143120|143121|143122|143123|190474|191228|191383|191385|191386|191387|191390|191391|191392|191393|191394|195689|195690|195977|223606|237012|250117|250119|250120|250130|250131|250133|250135|250138|266450|266537|266975|271804|271885|282377|282381|282384|283817|283821|283844|283873|284081|284088|437660|448555|448667|448763|511313|513019|516361|558707|559192|559194|587219|587220|628420|628421|628422|628423|690714|690715|690718|690719|690724|690725|690728|696993|696994|696997|707697|707699|719215|719216|719218|746754|805075|824722|824723|824724|922230|942218|962151|964162|964163|969600|970706|970707", "text": "Culler-Jones syndrome" }, { - "baseId": "45764|45764|106771|166216|231596|244402|367075|367077|367117|367118|368056|368060|451581|451583|451592|451831|451844|451847|451907|452000|452055|452067|518716|518852|518860|518870|518884|518886|518895|518896|518898|558720|559241|559243|559245|561066|561068|562204|562205|562209|630682|630683|630684|630685|630686|630687|630688|630689|630690|630691|630692|630693|672045|691246|691248|691249|695166|708436|720041|747851|747852|747853|747854|763489|781497|827219|827220|827221|827223|827224|827225|827226|827227|827229|827231|827232|827233|827234|922968|922969|922971|931658|931659|931660|943209|943210|943211|943212", + "upstreamId": "45764|45764|106771|166216|231596|244402|367075|367077|367117|367118|368056|368060|451581|451583|451592|451831|451844|451847|451907|452000|452055|452067|518716|518852|518860|518870|518884|518886|518895|518896|518898|558720|559241|559243|559245|561066|561068|562204|562205|562209|630682|630683|630684|630685|630686|630687|630688|630689|630690|630691|630692|630693|672045|691246|691248|691249|695166|708436|720041|747851|747852|747853|747854|763489|781497|827219|827220|827221|827223|827224|827225|827226|827227|827229|827231|827232|827233|827234|922968|922969|922971|931658|931659|931660|943209|943210|943211|943212", "text": "Hereditary motor and sensory neuropathy, Okinawa type" }, { - "baseId": "45764|106771|106771|231596|244402|367075|367077|367117|367118|368056|368060|451581|451583|451592|451831|451844|451847|451907|452000|452055|452067|518716|518852|518860|518870|518884|518886|518895|518896|518898|558720|559241|559243|559245|561066|561068|562204|562205|562209|630682|630683|630684|630685|630686|630687|630688|630689|630690|630691|630692|630693|672045|691246|691248|691249|695166|708436|720041|747851|747852|747853|747854|763489|781497|827219|827220|827221|827223|827224|827225|827226|827227|827229|827231|827232|827233|827234|922968|922969|922971|931658|931659|931660|943209|943210|943211|943212", + "upstreamId": "45764|106771|106771|231596|244402|367075|367077|367117|367118|368056|368060|451581|451583|451592|451831|451844|451847|451907|452000|452055|452067|518716|518852|518860|518870|518884|518886|518895|518896|518898|558720|559241|559243|559245|561066|561068|562204|562205|562209|630682|630683|630684|630685|630686|630687|630688|630689|630690|630691|630692|630693|672045|691246|691248|691249|695166|708436|720041|747851|747852|747853|747854|763489|781497|827219|827220|827221|827223|827224|827225|827226|827227|827229|827231|827232|827233|827234|922968|922969|922971|931658|931659|931660|943209|943210|943211|943212", "text": "Spastic paraplegia 57, autosomal recessive" }, { - "baseId": "45764", + "upstreamId": "45764", "text": "Amyotrophic Lateral Sclerosis with Sensory Neuropathy" }, { - "baseId": "45766|134078|134079|134081|134082|134083|255861|255865|260126|409731|429842|429843|441920|441921|441922|441923|441925|441926|465942|465943|465947|465949|465950|465954|465960|465966|466677|466682|466683|466687|466688|466691|466716|466731|466737|466740|466744|466756|466976|466979|466982|466983|466989|495804|530223|530224|530226|530290|530294|530300|530308|530524|530526|530528|530529|530746|530747|530749|568298|568299|568303|568304|570428|570429|570433|570437|570439|570441|570445|570448|570451|570520|570521|570522|570525|570528|574151|574154|574155|574158|574160|574163|622511|644952|644953|644954|644955|644956|644957|644958|644959|644960|644961|644962|644963|644964|644965|644966|644967|653306|693925|693926|693927|693928|693930|695706|703802|755380|771057|785380|788902|793646|797376|820871|844273|844274|844275|844276|844277|844278|844279|844280|844281|851677|927931|927932|927933|927934|927935|927936|927937|927938|927939|927940|937593|937594|937595|949550|949551|957867|957868|957869", + "upstreamId": "45766|134078|134079|134081|134082|134083|255861|255865|260126|409731|429842|429843|441920|441921|441922|441923|441925|441926|465942|465943|465947|465949|465950|465954|465960|465966|466677|466682|466683|466687|466688|466691|466716|466731|466737|466740|466744|466756|466976|466979|466982|466983|466989|495804|530223|530224|530226|530290|530294|530300|530308|530524|530526|530528|530529|530746|530747|530749|568298|568299|568303|568304|570428|570429|570433|570437|570439|570441|570445|570448|570451|570520|570521|570522|570525|570528|574151|574154|574155|574158|574160|574163|622511|644952|644953|644954|644955|644956|644957|644958|644959|644960|644961|644962|644963|644964|644965|644966|644967|653306|693925|693926|693927|693928|693930|695706|703802|755380|771057|785380|788902|793646|797376|820871|844273|844274|844275|844276|844277|844278|844279|844280|844281|851677|927931|927932|927933|927934|927935|927936|927937|927938|927939|927940|937593|937594|937595|949550|949551|957867|957868|957869", "text": "Myopathy, centronuclear, 4" }, { - "baseId": "45768|132462|330533|330576|480523|480524|480525|480525|480526|714238|816325|961655", + "upstreamId": "45768|132462|330533|330576|480523|480524|480525|480525|480526|714238|816325|961655", "text": "Weill-Marchesani syndrome 3" }, { - "baseId": "45769|45770|45771|45772|45774|45775|45776|360222|430984|430985|611371|961966|963365", + "upstreamId": "45769|45770|45771|45772|45774|45775|45776|360222|430984|430985|611371|961966|963365", "text": "Interstitial nephritis, karyomegalic" }, { - "baseId": "45777", + "upstreamId": "45777", "text": "Tetraparesis" }, { - "baseId": "45777|45778|514099", + "upstreamId": "45777|45778|514099", "text": "Oculogyric crisis" }, { - "baseId": "45777", + "upstreamId": "45777", "text": "ATP1A3-Related Disorders" }, { - "baseId": "45783|45784|45785", + "upstreamId": "45783|45784|45785", "text": "Spermatogenic failure 10" }, { - "baseId": "45790|222256|359092|359093|359094|919461|970971", + "upstreamId": "45790|222256|359092|359093|359094|919461|970971", "text": "Myoclonus, intractable, neonatal" }, { - "baseId": "45793|45794|45795|45796|45797|45799|45800|45801|188783|192536|259687|446968|448403|448406|512890|623249|690681|780786|780787|799233|819007|819008|824565|824566|856129|858981|922181|922182|930717|942154|942155|952563|952564|952565|966364|966365|966366|966367|966368|966369|966370|966371|966372|966373|966374|966375|966376|966377|966378|966379|966380|966381|966382|966383|966384|966385|966386|966387|966388", + "upstreamId": "45793|45794|45795|45796|45797|45799|45800|45801|188783|192536|259687|446968|448403|448406|512890|623249|690681|780786|780787|799233|819007|819008|824565|824566|856129|858981|922181|922182|930717|942154|942155|952563|952564|952565|966364|966365|966366|966367|966368|966369|966370|966371|966372|966373|966374|966375|966376|966377|966378|966379|966380|966381|966382|966383|966384|966385|966386|966387|966388", "text": "Leber congenital amaurosis 9" }, { - "baseId": "45805|181576|190296|275014|677158", + "upstreamId": "45805|181576|190296|275014|677158", "text": "Osteogenesis imperfecta type 5" }, { - "baseId": "45816|79738|430082", + "upstreamId": "45816|79738|430082", "text": "MICROCEPHALY, SHORT STATURE, AND POLYMICROGYRIA WITH SEIZURES" }, { - "baseId": "45817|45818|45819|134660|166227|207075|251131|251132|251134|251135|251136|251137|364234|367236|367239|367242|367555|367581|368606|406306|425561|428182|428183|428185|428186|428187|443458|452416|452423|452426|452614|452617|452634|452637|452723|452734|452736|452954|452958|452968|452980|490206|500267|500744|518705|519296|519299|519301|519303|519304|519345|519351|519494|519497|519500|519548|519550|519552|535700|559000|559002|559004|559515|559517|559519|561573|561575|561586|561587|561593|561596|561598|562965|562967|631425|631426|631427|631428|631429|631430|631431|631432|631433|631434|631435|631436|631437|631438|631439|631440|631441|631442|631443|631444|631445|631446|631447|691415|691417|691418|691419|691420|698094|698095|708859|720445|734065|748265|748266|790395|828163|828164|828165|828166|828167|828168|828169|828170|828171|828172|828173|828174|828175|828176|828177|828178|828179|923210|923211|923212|923213|923214|923215|923216|931955|931956|931957|931958|931959|931960|943563|943564|943565|943566|953485|953486|953487|953488|953489|953490", + "upstreamId": "45817|45818|45819|134660|166227|207075|251131|251132|251134|251135|251136|251137|364234|367236|367239|367242|367555|367581|368606|406306|425561|428182|428183|428185|428186|428187|443458|452416|452423|452426|452614|452617|452634|452637|452723|452734|452736|452954|452958|452968|452980|490206|500267|500744|518705|519296|519299|519301|519303|519304|519345|519351|519494|519497|519500|519548|519550|519552|535700|559000|559002|559004|559515|559517|559519|561573|561575|561586|561587|561593|561596|561598|562965|562967|631425|631426|631427|631428|631429|631430|631431|631432|631433|631434|631435|631436|631437|631438|631439|631440|631441|631442|631443|631444|631445|631446|631447|691415|691417|691418|691419|691420|698094|698095|708859|720445|734065|748265|748266|790395|828163|828164|828165|828166|828167|828168|828169|828170|828171|828172|828173|828174|828175|828176|828177|828178|828179|923210|923211|923212|923213|923214|923215|923216|931955|931956|931957|931958|931959|931960|943563|943564|943565|943566|953485|953486|953487|953488|953489|953490", "text": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8" }, { - "baseId": "45821|45822|45823|45824|45825", + "upstreamId": "45821|45822|45823|45824|45825", "text": "Amelogenesis imperfecta, hypomaturation type IIA4" }, { - "baseId": "45829|305423|305427|305429|305430|305431|305435|305436|305442|305451|305457|305464|305466|305467|305469|305470|305471|305474|305475|309317|309318|309319|309320|309322|309323|309324|309326|309327|309332|309334|309336|309337|309340|309347|309350|309351|314561|314562|314563|314574|314578|314588|314593|314600|314607|314609|314613|314626|314627|314636|314637|314638|314639|314644|314645|314646|314648|314649|314651|314652|314657|314661|314662|314666|314669|314670|314680|314682|512834|614322|614323|620300|700601|723131|730581|730582|766857|899697|899698|899699|899700|899701|899702|899703|899704|899705|899706|899707|899708|899709|899710|899711|899712|899713|899714|899715|899716|899717|899718|899719|899720|899721|899722|899723|899724|899725|899726|899727|899728|899729|899730|899731|899732|899733|899734|899735|900504|900505|900506|900507|919159|980462", + "upstreamId": "45829|305423|305427|305429|305430|305431|305435|305436|305442|305451|305457|305464|305466|305467|305469|305470|305471|305474|305475|309317|309318|309319|309320|309322|309323|309324|309326|309327|309332|309334|309336|309337|309340|309347|309350|309351|314561|314562|314563|314574|314578|314588|314593|314600|314607|314609|314613|314626|314627|314636|314637|314638|314639|314644|314645|314646|314648|314649|314651|314652|314657|314661|314662|314666|314669|314670|314680|314682|512834|614322|614323|620300|700601|723131|730581|730582|766857|899697|899698|899699|899700|899701|899702|899703|899704|899705|899706|899707|899708|899709|899710|899711|899712|899713|899714|899715|899716|899717|899718|899719|899720|899721|899722|899723|899724|899725|899726|899727|899728|899729|899730|899731|899732|899733|899734|899735|900504|900505|900506|900507|919159|980462", "text": "Natural killer cell and glucocorticoid deficiency with DNA repair defect" }, { - "baseId": "45831|227915|278238|390510|513500|970669", + "upstreamId": "45831|227915|278238|390510|513500|970669", "text": "CFHR5 deficiency" }, { - "baseId": "45838", + "upstreamId": "45838", "text": "Achromatopsia 6" }, { - "baseId": "45838", + "upstreamId": "45838", "text": "PDE6H-Related Disorders" }, { - "baseId": "45845|48309|48310|48311|48312|48313|97521|170174|170176|170177|170178|205706|209171|209172|209173|209174|213672|225805|265124|353914|361252|423089|426754|439701|472203|513841|513842|513843|513844|534365|535678|551800|575447|575511|612125|677475|694933|786903|788953|792498|792499|852985|857661|917373|920062|920063|964002|975723", + "upstreamId": "45845|48309|48310|48311|48312|48313|97521|170174|170176|170177|170178|205706|209171|209172|209173|209174|213672|225805|265124|353914|361252|423089|426754|439701|472203|513841|513842|513843|513844|534365|535678|551800|575447|575511|612125|677475|694933|786903|788953|792498|792499|852985|857661|917373|920062|920063|964002|975723", "text": "Cornelia de Lange syndrome 5" }, { - "baseId": "45854|247093|463047|463533|464015|464019|527838|527962|528419|528425|528428|566240|566244|568711|568713|568714|572680|642123|642124|642125|642126|642127|652449|652850|714005|714006|725569|739130|760293|769679|769680|775973|779701|841078|841079|841080|841081|841082|841083|841084|841085|841086|841087|841088|841089|841090|852727|926967|936519|936520|936521|936522|936523|936524|957156", + "upstreamId": "45854|247093|463047|463533|464015|464019|527838|527962|528419|528425|528428|566240|566244|568711|568713|568714|572680|642123|642124|642125|642126|642127|652449|652850|714005|714006|725569|739130|760293|769679|769680|775973|779701|841078|841079|841080|841081|841082|841083|841084|841085|841086|841087|841088|841089|841090|852727|926967|936519|936520|936521|936522|936523|936524|957156", "text": "Herpes simplex encephalitis, susceptibility to, 3" }, { - "baseId": "45855|45856|468928|468929|469923|470355|470359|471047|486803|533088|533094|533095|533181|533185|533190|533195|533197|533200|533205|533208|533614|533617|533618|570875|570877|570881|570886|572559|572561|572563|572566|572568|573193|573198|573202|573205|573206|574998|648198|648199|648200|648201|648202|648203|648204|648205|648206|648207|648208|705136|716570|716571|716572|728307|728308|728309|742018|742020|757144|757145|757146|757148|772771|772772|772774|772778|786238|786239|847790|847791|847792|847793|847794|847795|847796|847797|847798|847799|847800|847801|847802|847803|847804|847805|847806|847807|847808|929005|929006|929007|938746|938747|938748|938749|938750|938751|938752|938753|950834|950835|950836|958673|958674", + "upstreamId": "45855|45856|468928|468929|469923|470355|470359|471047|486803|533088|533094|533095|533181|533185|533190|533195|533197|533200|533205|533208|533614|533617|533618|570875|570877|570881|570886|572559|572561|572563|572566|572568|573193|573198|573202|573205|573206|574998|648198|648199|648200|648201|648202|648203|648204|648205|648206|648207|648208|705136|716570|716571|716572|728307|728308|728309|742018|742020|757144|757145|757146|757148|772771|772772|772774|772778|786238|786239|847790|847791|847792|847793|847794|847795|847796|847797|847798|847799|847800|847801|847802|847803|847804|847805|847806|847807|847808|929005|929006|929007|938746|938747|938748|938749|938750|938751|938752|938753|950834|950835|950836|958673|958674", "text": "Herpes simplex encephalitis, susceptibility to, 4" }, { - "baseId": "45860|194977|194978|194979|194981|194982|194983|194984|194986|255759|255761|255762|255763|255764|255765|255767|255768|255769|255770|255771|255772|255773|255775|255778|268033|270923|389167|415495|445583|465756|465757|465761|465763|466466|466483|466487|466734|466736|466742|466743|512950|530147|530155|530156|530157|530336|530539|568169|570238|570245|570316|584314|644708|644709|644710|644711|644712|644713|644714|644715|644716|644717|644718|644719|652565|677450|693884|693885|693886|703718|703719|703720|703722|703723|703724|703725|703726|714950|726667|726668|726671|731072|740220|740221|740224|755206|755207|770916|770924|770926|778269|785284|788898|843893|843894|843895|843896|843897|843898|843899|843900|843901|843902|843903|843904|843905|843906|843907|843908|843909|843910|843911|843912|843913|843914|843915|843916|843917|843918|843919|843920|843921|843922|843923|843924|843925|843926|843927|852115|927828|927829|927830|927831|927832|927833|927834|927835|937459|937460|937461|937462|937463|937464|937465|937466|937467|937468|937469|937470|937471|937472|937473|937474|937475|949409|949410|949411|949412|949413|949414|949415|949416|949417|949418|949419|957769|957770|957771|957772|957773|957774|957775|957776|971547", + "upstreamId": "45860|194977|194978|194979|194981|194982|194983|194984|194986|255759|255761|255762|255763|255764|255765|255767|255768|255769|255770|255771|255772|255773|255775|255778|268033|270923|389167|415495|445583|465756|465757|465761|465763|466466|466483|466487|466734|466736|466742|466743|512950|530147|530155|530156|530157|530336|530539|568169|570238|570245|570316|584314|644708|644709|644710|644711|644712|644713|644714|644715|644716|644717|644718|644719|652565|677450|693884|693885|693886|703718|703719|703720|703722|703723|703724|703725|703726|714950|726667|726668|726671|731072|740220|740221|740224|755206|755207|770916|770924|770926|778269|785284|788898|843893|843894|843895|843896|843897|843898|843899|843900|843901|843902|843903|843904|843905|843906|843907|843908|843909|843910|843911|843912|843913|843914|843915|843916|843917|843918|843919|843920|843921|843922|843923|843924|843925|843926|843927|852115|927828|927829|927830|927831|927832|927833|927834|927835|937459|937460|937461|937462|937463|937464|937465|937466|937467|937468|937469|937470|937471|937472|937473|937474|937475|949409|949410|949411|949412|949413|949414|949415|949416|949417|949418|949419|957769|957770|957771|957772|957773|957774|957775|957776|971547", "text": "Nephronophthisis 14" }, { - "baseId": "45861|45862", + "upstreamId": "45861|45862", "text": "Joubert syndrome 19" }, { - "baseId": "45863|45864|135244|192046|208116|265344|714148|792792|919531|919532|920334", + "upstreamId": "45863|45864|135244|192046|208116|265344|714148|792792|919531|919532|920334", "text": "Seckel syndrome 7" }, { - "baseId": "45865|431741", + "upstreamId": "45865|431741", "text": "Retinitis pigmentosa 65" }, { - "baseId": "45867|45868|45869|45870|45871|191414|191573|237318|253997|254000|254001|254002|254007|254008|254009|254010|265400|269350|408273|408274|421822|460890|460895|460897|460904|460911|461224|461703|461710|461712|493315|525907|525982|564431|564433|565520|565524|567050|583109|622398|639720|639721|692932|692933|692934|692935|692936|692937|701575|701576|701578|701579|701580|701581|701582|701583|701584|701585|701586|701587|724203|724205|730727|737745|737746|752442|777901|779507|820338|837964|837965|837966|837967|837968|837969|837970|837971|837972|837973|837974|837975|837976|837977|837978|837979|837980|837981|837982|837983|837984|837985|837986|837987|837988|837989|837990|837991|837992|837993|837994|837995|837996|837997|837998|837999|838000|838001|838002|838003|838004|851423|851425|852327|852604|919319|926125|926126|926127|926128|926129|926130|935384|935385|935386|935387|935388|935389|935390|935391|935392|935393|935394|935395|935396|935397|935398|935399|935400|940204|947307|947308|947309|947310|947311|947312|947313|947314|947315|947316|947317|947318|947319|947320|947321|947322|947323|947324|947325|947326|947327|947328|947329|956381|956382|956383|956384|956385|956386|956387|956388|956389|956390|956391|956392|956393|959975|959976|959977|980338|980339|980941", + "upstreamId": "45867|45868|45869|45870|45871|191414|191573|237318|253997|254000|254001|254002|254007|254008|254009|254010|265400|269350|408273|408274|421822|460890|460895|460897|460904|460911|461224|461703|461710|461712|493315|525907|525982|564431|564433|565520|565524|567050|583109|622398|639720|639721|692932|692933|692934|692935|692936|692937|701575|701576|701578|701579|701580|701581|701582|701583|701584|701585|701586|701587|724203|724205|730727|737745|737746|752442|777901|779507|820338|837964|837965|837966|837967|837968|837969|837970|837971|837972|837973|837974|837975|837976|837977|837978|837979|837980|837981|837982|837983|837984|837985|837986|837987|837988|837989|837990|837991|837992|837993|837994|837995|837996|837997|837998|837999|838000|838001|838002|838003|838004|851423|851425|852327|852604|919319|926125|926126|926127|926128|926129|926130|935384|935385|935386|935387|935388|935389|935390|935391|935392|935393|935394|935395|935396|935397|935398|935399|935400|940204|947307|947308|947309|947310|947311|947312|947313|947314|947315|947316|947317|947318|947319|947320|947321|947322|947323|947324|947325|947326|947327|947328|947329|956381|956382|956383|956384|956385|956386|956387|956388|956389|956390|956391|956392|956393|959975|959976|959977|980338|980339|980941", "text": "Nephronophthisis 15" }, { - "baseId": "45875|48301|102597|102597|102598|196002|196003|196004|201157|201174|206798|360811|391203|434754|515912|611376|614219|614220", + "upstreamId": "45875|48301|102597|102597|102598|196002|196003|196004|201157|201174|206798|360811|391203|434754|515912|611376|614219|614220", "text": "Epilepsy, idiopathic generalized, susceptibility to, 12" }, { - "baseId": "45881|45882|188060|188061|188062|188063|304896|304903|304914|304916|304921|304922|304924|304925|304927|304934|304935|304944|304945|304946|304955|308601|308620|308621|308622|308649|308652|308653|308654|308665|313807|313808|313809|313827|313830|313833|313843|313879|313880|313881|313890|313894|313899|313907|313909|313910|489925|502433|620804|722994|722995|751066|766727|783075|783076|899337|899338|899339|899340|899341|899342|899343|899344|899345|899346|899347|899348|899349|899350|899351|899352|899353|899354|899355|899356|899357|899358|899359|899360|900469|900470|900471|900472|900473|900474", + "upstreamId": "45881|45882|188060|188061|188062|188063|304896|304903|304914|304916|304921|304922|304924|304925|304927|304934|304935|304944|304945|304946|304955|308601|308620|308621|308622|308649|308652|308653|308654|308665|313807|313808|313809|313827|313830|313833|313843|313879|313880|313881|313890|313894|313899|313907|313909|313910|489925|502433|620804|722994|722995|751066|766727|783075|783076|899337|899338|899339|899340|899341|899342|899343|899344|899345|899346|899347|899348|899349|899350|899351|899352|899353|899354|899355|899356|899357|899358|899359|899360|900469|900470|900471|900472|900473|900474", "text": "Osteogenesis imperfecta, type xiii" }, { - "baseId": "45883|45884|79733|917045", + "upstreamId": "45883|45884|79733|917045", "text": "Hypogonadotropic hypogonadism 14 with or without anosmia" }, { - "baseId": "45885", + "upstreamId": "45885", "text": "Hypogonadotropic hypogonadism 14 with anosmia" }, { - "baseId": "45886|231438|672114", + "upstreamId": "45886|231438|672114", "text": "Deafness, autosomal recessive 98" }, { - "baseId": "45886|581214", + "upstreamId": "45886|581214", "text": "ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH HYPOHIDROSIS" }, { - "baseId": "45887|45888|45889|45890|45891|45892|45893|244461|443680|454334|454474|454843|520582|521013|536156|536157|560055|560057|564516|625110|633049|633050|633051|651206|651247|651274|691685|799396|799397|830052|830053|830054|830055|923792|923793|923794|932638|932639|944315|944316|944317|953961|966346", + "upstreamId": "45887|45888|45889|45890|45891|45892|45893|244461|443680|454334|454474|454843|520582|521013|536156|536157|560055|560057|564516|625110|633049|633050|633051|651206|651247|651274|691685|799396|799397|830052|830053|830054|830055|923792|923793|923794|932638|932639|944315|944316|944317|953961|966346", "text": "Autosomal recessive axonal neuropathy with neuromyotonia" }, { - "baseId": "45894|45895|45897|255053|264602|360112|363793|373153|373161|373897|373900|374295|374338|376136|376152|376157|376186|409149|409150|504596|504605|505516|505518|566610|568255|569014|569015|569016|578515|642680|642681|642682|642683|642684|656261|656262|739311|744709|744821|769909|841721|841722|841723|927157|927158|936708|936709|936710|940313|941066|948649|948650|948651|957296|957297|957298|961790|964860|964861", + "upstreamId": "45894|45895|45897|255053|264602|360112|363793|373153|373161|373897|373900|374295|374338|376136|376152|376157|376186|409149|409150|504596|504605|505516|505518|566610|568255|569014|569015|569016|578515|642680|642681|642682|642683|642684|656261|656262|739311|744709|744821|769909|841721|841722|841723|927157|927158|936708|936709|936710|940313|941066|948649|948650|948651|957296|957297|957298|961790|964860|964861", "text": "Methylmalonic acidemia with homocystinuria, type cblJ" }, { - "baseId": "45898|45899|45900|275441|469367|470401|470403|533545|533577|533579|533626|533630|533632|571250|571252|573522|573525|648707|648708|648709|648710|648711|648712|648713|648714|648715|648716|728675|742424|745437|757547|773118|848425|848426|848427|848428|853000|929198|929199|929200|938986|951106|951107|951108|958849|958850", + "upstreamId": "45898|45899|45900|275441|469367|470401|470403|533545|533577|533579|533626|533630|533632|571250|571252|573522|573525|648707|648708|648709|648710|648711|648712|648713|648714|648715|648716|728675|742424|745437|757547|773118|848425|848426|848427|848428|853000|929198|929199|929200|938986|951106|951107|951108|958849|958850", "text": "T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations" }, { - "baseId": "45973|66594|132250|133046|196493|243095|422134", + "upstreamId": "45973|66594|132250|133046|196493|243095|422134", "text": "bilateral breast cancer" }, { - "baseId": "45976|46561|183836|408995|454262|494965|561356", + "upstreamId": "45976|46561|183836|408995|454262|494965|561356", "text": "B lymphoblastic leukemia lymphoma with hyperdiploidy" }, { - "baseId": "45994|65919|67015|69561|235341|432821|535741|550711|550712|550715|550716", + "upstreamId": "45994|65919|67015|69561|235341|432821|535741|550711|550712|550715|550716", "text": "Infiltrating duct carcinoma of breast" }, { - "baseId": "46090|550709", + "upstreamId": "46090|550709", "text": "Ovarian Serous Surface Papillary Adenocarcinoma" }, { - "baseId": "46149|46401|46599|49999|65717|66312|66327|66754|67015|70387|102669|131163|139844|213034|226153|409019|550699|550701|550714|550736", + "upstreamId": "46149|46401|46599|49999|65717|66312|66327|66754|67015|70387|102669|131163|139844|213034|226153|409019|550699|550701|550714|550736", "text": "Cancer of the pancreas" }, { - "baseId": "46422|150752|392715", + "upstreamId": "46422|150752|392715", "text": "Anaplastic/large cell medulloblastoma" }, { - "baseId": "46454", + "upstreamId": "46454", "text": "Invasive Lobular Breast Carcinoma" }, { - "baseId": "46540|983702", + "upstreamId": "46540|983702", "text": "Metastatic Prostate Small Cell Carcinoma" }, { - "baseId": "46816|66317|150689|615890", + "upstreamId": "46816|66317|150689|615890", "text": "Genetic non-acquired premature ovarian failure" }, { - "baseId": "46911|584407", + "upstreamId": "46911|584407", "text": "MPV17-related mitochondrial DNA maintenance defect" }, { - "baseId": "46918", + "upstreamId": "46918", "text": "MPV17-Related Disorders" }, { - "baseId": "46918|584407|614556|971338", + "upstreamId": "46918|584407|614556|971338", "text": "Charcot-marie-tooth disease, axonal, type 2ee" }, { - "baseId": "46918", + "upstreamId": "46918", "text": "Mitochondrial DNA depletion syndrome type 6" }, { - "baseId": "47241", + "upstreamId": "47241", "text": "Alpha-thalassemia and related diseases" }, { - "baseId": "47407", + "upstreamId": "47407", "text": "Hereditary mixed polyposis syndrome 1" }, { - "baseId": 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"text": "Ehlers-Danlos syndrome, type 7A" }, { - "baseId": "47563|47564", + "upstreamId": "47563|47564", "text": "FLNB-Related Disorders" }, { - "baseId": "47566|51094|51095|53399|53400|53402|53406|176761|178210|224412|260536|265743|372156|372162|398060|460867|460870|460873|461166|461170|461650|503133|525872|526384|526387|564379|564392|565479|565481|565481|565483|567039|639687|639688|639689|639690|639691|652091|684223|701557|820330|837939|837940|837941|837942|837943|837944|858562|919317|926112|926113|926114|926115|926116|935375|935376|947295|947296|947297|947298|947299", + "upstreamId": "47566|51094|51095|53399|53400|53402|53406|176761|178210|224412|260536|265743|372156|372162|398060|460867|460870|460873|461166|461170|461650|503133|525872|526384|526387|564379|564392|565479|565481|565481|565483|567039|639687|639688|639689|639690|639691|652091|684223|701557|820330|837939|837940|837941|837942|837943|837944|858562|919317|926112|926113|926114|926115|926116|935375|935376|947295|947296|947297|947298|947299", "text": "Dilated cardiomyopathy 1II" }, { - "baseId": "47581|47593|47595|47596", + "upstreamId": "47581|47593|47595|47596", "text": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3" }, { - "baseId": "47593|76993|140787|143071|143072|192333|200016|200025|200027|203034|203048|264339|286556|286557|287233|287252|287253|287255|287320|287322|287323|287327|287329|288040|288052|288067|288073|288079|288085|288797|290524|290733|290734|290735|290736|290751|290752|290971|290990|290991|290992|290993|290994|291008|303732|303737|303738|307196|307236|309188|309201|309206|312159|312174|319813|320336|326063|326064|326069|328425|334869|335751|336685|336708|342086|342087|343618|400552|654473", + "upstreamId": "47593|76993|140787|143071|143072|192333|200016|200025|200027|203034|203048|264339|286556|286557|287233|287252|287253|287255|287320|287322|287323|287327|287329|288040|288052|288067|288073|288079|288085|288797|290524|290733|290734|290735|290736|290751|290752|290971|290990|290991|290992|290993|290994|291008|303732|303737|303738|307196|307236|309188|309201|309206|312159|312174|319813|320336|326063|326064|326069|328425|334869|335751|336685|336708|342086|342087|343618|400552|654473", "text": "Mitochondrial DNA depletion syndrome" }, { - "baseId": "47638", + "upstreamId": "47638", "text": "Juvenile osteochondrosis of spine" }, { - "baseId": "47804|679696", + "upstreamId": "47804|679696", "text": "Early onset Alzheimer disease with behavioral disturbance" }, { - "baseId": "47804|202949", + "upstreamId": "47804|202949", "text": "Spinocerebellar atrophy" }, { - "baseId": "47877|293008|293012|293015|294375|294393|294426|294429|294445|297815|297842|297866|297867|297868|297869|297870|297871|297882|297942|297955|297961|297962|297969|297970|344942", + "upstreamId": "47877|293008|293012|293015|294375|294393|294426|294429|294445|297815|297842|297866|297867|297868|297869|297870|297871|297882|297942|297955|297961|297962|297969|297970|344942", "text": "Corneal Dystrophy, Recessive" }, { - "baseId": "47950|47951|166409|166410|622295|622296", + "upstreamId": "47950|47951|166409|166410|622295|622296", "text": "CYP2C19: decreased function" }, { - "baseId": "47956", + "upstreamId": "47956", "text": "CYP2C19: increased function" }, { - "baseId": "48023|48024|48025", + "upstreamId": "48023|48024|48025", "text": "Hypocalciuric hypercalcemia, familial, type III" }, { - "baseId": "48032|75606|75607|75608|75609|75610|75611|75612|614263", + "upstreamId": "48032|75606|75607|75608|75609|75610|75611|75612|614263", "text": "Asplenia, isolated congenital" }, { - "baseId": "48037|48038|48039|48040|192597|194556|291931|291937|291945|291952|293332|293338|293339|293340|293343|293359|293364|293365|293377|296658|296659|296663|296665|296666|296668|296673|296678|296700|489319|512897|620140|672054|748664|748665|828662|828663|889874|889875|889876|889877|889878|889879|889880|889881|889882|889883|889884|889885|889886|889887|889888|889889|889890|889891|889892|889893|889894|889895|889896|889897", + "upstreamId": "48037|48038|48039|48040|192597|194556|291931|291937|291945|291952|293332|293338|293339|293340|293343|293359|293364|293365|293377|296658|296659|296663|296665|296666|296668|296673|296678|296700|489319|512897|620140|672054|748664|748665|828662|828663|889874|889875|889876|889877|889878|889879|889880|889881|889882|889883|889884|889885|889886|889887|889888|889889|889890|889891|889892|889893|889894|889895|889896|889897", "text": "Congenital stationary night blindness, type 1F" }, { - "baseId": "48045|48046|134365|134366|134367|134368|306884|306892|306894|306895|306897|311069|311074|311076|311077|316675|316676|316677|316680|317008|317016|317021|369771|523990|524289|524595|562775|565527|620318|637715|637716|651812|851722|901132|901133|901134|901135|901136|901137|901138|901139|901140|901141|903317|940129|946374|972574", + "upstreamId": "48045|48046|134365|134366|134367|134368|306884|306892|306894|306895|306897|311069|311074|311076|311077|316675|316676|316677|316680|317008|317016|317021|369771|523990|524289|524595|562775|565527|620318|637715|637716|651812|851722|901132|901133|901134|901135|901136|901137|901138|901139|901140|901141|903317|940129|946374|972574", "text": "Congenital disorder of glycosylation type 1u" }, { - "baseId": "48047|48048|48049|48050", + "upstreamId": "48047|48048|48049|48050", "text": "Sarcosine dehydrogenase deficiency" }, { - "baseId": 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"upstreamId": "48054|48055|48056|48057|48057|48058|48059|48060|48061|131928|131928|132070|193473|237026|269259|271648|276543|276558|276562|276794|276807|276825|276830|277373|277374|277381|277382|277442|277450|277464|277465|364461|364502|404940|447149|447303|481331|511176|515098|515130|515133|515148|515152|515244|515245|515250|556606|556608|556610|556661|556663|556665|556667|558134|558136|626873|626874|626875|626876|626877|626878|626879|626880|626881|626882|626883|626884|626885|626886|626887|626888|626889|626890|626891|626892|650630|678121|690363|690364|690367|690369|690371|690372|690374|695001|696128|696131|696132|696133|718251|729922|743713|777034|780340|794432|794433|822768|822769|822770|822771|822772|822773|822774|822775|822776|822777|822778|822779|822780|822781|903676|918562|918563|921660|921661|921662|921663|930055|930056|930057|941473|941474|941475|941476|941477|941478|941479|941480|941481|941482|941483|941484|941485|941486|941487|952084|952085|952086|952087|952088|952089|959522|980436", "text": "Aicardi-Goutieres syndrome 6" }, { - "baseId": "48066", + "upstreamId": "48066", "text": "Epidermolysis bullosa, nonspecific, autosomal recessive" }, { - "baseId": "48072|48073|48074|48075|48076|48077|48078|48079|48080|237480|237482|424585|481067|581869|920302", + "upstreamId": "48072|48073|48074|48075|48076|48077|48078|48079|48080|237480|237482|424585|481067|581869|920302", "text": "Opsismodysplasia" }, { - "baseId": "48087|48088|48089|48090|48091|48092|106522|106523|106524|171286|188955|206947|237474|237475|237476|361175|427991|427993|427995|427996|481363|581866|590119|804990|804991|804992|804993|805059", + "upstreamId": "48087|48088|48089|48090|48091|48092|106522|106523|106524|171286|188955|206947|237474|237475|237476|361175|427991|427993|427995|427996|481363|581866|590119|804990|804991|804992|804993|805059", "text": "Distal arthrogryposis type 5D" }, { - "baseId": "48093|920258", + "upstreamId": "48093|920258", "text": "Osteogenesis imperfecta, type xiv" }, { - "baseId": "48094|260407|260408|433926|442901|448453|448461|448524|448576|448587|448594|448660|448665|516236|516237|516239|516244|516249|516250|516252|516255|516256|516262|516268|516343|516348|516354|516356|540442|557416|557456|557458|557460|557462|557464|557466|557468|557470|557519|557521|557523|557525|558667|558669|558671|558673|558675|558677|558679|559170|559172|609441|650390|650391|650394|650395|650396|650397|650398|650400|650401|650402|650403|690688|690690|690691|690692|690693|690694|690695|690696|690697|690698|695065|695066|695067|719178|719179|732694|762136|778868|780802|819023|819024|819025|824615|824616|824617|824618|824619|824620|824621|824622|824623|824624|824625|824626|824627|824628|824629|922205|922206|922207|922208|922209|922210|930746|930747|930748|942177|942178|952600|952601|952602|952603|964648", + "upstreamId": "48094|260407|260408|433926|442901|448453|448461|448524|448576|448587|448594|448660|448665|516236|516237|516239|516244|516249|516250|516252|516255|516256|516262|516268|516343|516348|516354|516356|540442|557416|557456|557458|557460|557462|557464|557466|557468|557470|557519|557521|557523|557525|558667|558669|558671|558673|558675|558677|558679|559170|559172|609441|650390|650391|650394|650395|650396|650397|650398|650400|650401|650402|650403|690688|690690|690691|690692|690693|690694|690695|690696|690697|690698|695065|695066|695067|719178|719179|732694|762136|778868|780802|819023|819024|819025|824615|824616|824617|824618|824619|824620|824621|824622|824623|824624|824625|824626|824627|824628|824629|922205|922206|922207|922208|922209|922210|930746|930747|930748|942177|942178|952600|952601|952602|952603|964648", "text": "Neuronopathy, distal hereditary motor, type viia" }, { - "baseId": "48095|48096|48097|48098|241088|565641|639919|798641|919354", + "upstreamId": "48095|48096|48097|48098|241088|565641|639919|798641|919354", "text": "Dystonia 24" }, { - "baseId": "48099|48100|48101|48102|48103|421466|426742|426743|553413|622877|792741|963133", + "upstreamId": "48099|48100|48101|48102|48103|421466|426742|426743|553413|622877|792741|963133", "text": "Spastic paraplegia 56, autosomal recessive" }, { - "baseId": "48104|48105", + "upstreamId": "48104|48105", "text": "Hypotrichosis 11" }, { - "baseId": "48106|48107|171847|215009", + "upstreamId": "48106|48107|171847|215009", "text": "Klippel-Feil syndrome 2, autosomal recessive" }, { - "baseId": "48114", + "upstreamId": "48114", "text": "Brachydactyly, type a1, c" }, { - "baseId": "48144", + "upstreamId": "48144", "text": "Congenital nonbullous ichthyosiform erythroderma" }, { - "baseId": "48144|285303|287455|287457|287669|287716|296690|296692|298558|298559|298575|298587|302679|302683|302685|302719|307050|307386|330559|332788|340757|340761|340769|346392|347722|347734|347764|348283|349495|361957|361959|443963|613741|672241|672242|672243|672244|672245|672246|672247|672248|672249|672250|672251|672252", + "upstreamId": "48144|285303|287455|287457|287669|287716|296690|296692|298558|298559|298575|298587|302679|302683|302685|302719|307050|307386|330559|332788|340757|340761|340769|346392|347722|347734|347764|348283|349495|361957|361959|443963|613741|672241|672242|672243|672244|672245|672246|672247|672248|672249|672250|672251|672252", "text": "Congenital ichthyosiform erythroderma" }, { - "baseId": "48151|48152", + "upstreamId": "48151|48152", "text": "Zinc deficiency, transient neonatal" }, { - "baseId": "48154|48155|48156|48158|249390|249391|276592|614182|614183|614184|614185|614186|816300|980433", + "upstreamId": "48154|48155|48156|48158|249390|249391|276592|614182|614183|614184|614185|614186|816300|980433", "text": "Ectopia lentis et pupillae" }, { - "baseId": "48160|48161|252342|252343|252344|252345|252346|300019|300029|300031|300036|300038|300042|300044|300048|302702|302703|302704|302705|302706|302709|302720|302721|307051|307054|307055|307056|307333|307334|307337|307366|307367|307368|307379|307380|307392|361956|361957|361958|361959|361960|389753|431011|438322|443963|609204|613741|622227|622228|622229|622230|622231|622262|710481|710482|722017|722019|895904|895905|895906|895907|895908|895909|895910|895911|895912|895913|895914|895915|895916|895917|895918|895919|895920|895921|896237|896238|896239", + "upstreamId": "48160|48161|252342|252343|252344|252345|252346|300019|300029|300031|300036|300038|300042|300044|300048|302702|302703|302704|302705|302706|302709|302720|302721|307051|307054|307055|307056|307333|307334|307337|307366|307367|307368|307379|307380|307392|361956|361957|361958|361959|361960|389753|431011|438322|443963|609204|613741|622227|622228|622229|622230|622231|622262|710481|710482|722017|722019|895904|895905|895906|895907|895908|895909|895910|895911|895912|895913|895914|895915|895916|895917|895918|895919|895920|895921|896237|896238|896239", "text": "Autosomal recessive congenital ichthyosis 10" }, { - "baseId": "48162|48163|48164|361490|407824|439114|459707|539027|563592|563593|563597|564510|569524|569541|576135|578482|609740|626196|638758|638759|652089|701216|701217|701219|701220|701221|712196|712197|712198|712199|712200|712201|723801|723802|723803|723805|723807|723808|723810|744552|759933|767653|779459|779461|790942|820192|836678|836679|836680|836681|836682|920281|925759|934976|960714|961783|961784", + "upstreamId": "48162|48163|48164|361490|407824|439114|459707|539027|563592|563593|563597|564510|569524|569541|576135|578482|609740|626196|638758|638759|652089|701216|701217|701219|701220|701221|712196|712197|712198|712199|712200|712201|723801|723802|723803|723805|723807|723808|723810|744552|759933|767653|779459|779461|790942|820192|836678|836679|836680|836681|836682|920281|925759|934976|960714|961783|961784", "text": "2-aminoadipic 2-oxoadipic aciduria" }, { - "baseId": "48165|213597|446857|539027|576135|608957|903493", + "upstreamId": "48165|213597|446857|539027|576135|608957|903493", "text": "Charcot-Marie-Tooth disease, axonal, type 2Q" }, { - "baseId": "48168|48169", + "upstreamId": "48168|48169", "text": "Phosphohydroxylysinuria" }, { - "baseId": "48170|48171|134744|205242|213552|244153|247430|259766|259766|290723|291634|291659|440803|443460|494945|494946|494947|494948|494949|494950|511499|576106|612473|790396|790397|963540|966847|969704", + "upstreamId": "48170|48171|134744|205242|213552|244153|247430|259766|259766|290723|291634|291659|440803|443460|494945|494946|494947|494948|494949|494950|511499|576106|612473|790396|790397|963540|966847|969704", "text": "Spinocerebellar ataxia type 29" }, { - "baseId": "48177|48178|48179|139356|139357|384501|384502|411517|513138|513139|623349|623350|818335", + "upstreamId": "48177|48178|48179|139356|139357|384501|384502|411517|513138|513139|623349|623350|818335", "text": "Nephrotic syndrome, type 7" }, { - "baseId": "48180|135314|135316|429275|461567|461898|462239|579720|579721|579732|579738|579760|579953|579968|672082|695536|701900|738162|768632|777983|778160|787698|941009", + "upstreamId": "48180|135314|135316|429275|461567|461898|462239|579720|579721|579732|579738|579760|579953|579968|672082|695536|701900|738162|768632|777983|778160|787698|941009", "text": "Schuurs-hoeijmakers syndrome" }, { - "baseId": "48180|198826|514050|514051", + "upstreamId": "48180|198826|514050|514051", "text": "Mitral valve prolapse" }, { - "baseId": "48180", + "upstreamId": "48180", "text": "Optic disc pallor" }, { - "baseId": "48180|360984|459248", + "upstreamId": "48180|360984|459248", "text": "Aortic root dilatation" }, { - "baseId": "48180|550131|590736", + "upstreamId": "48180|550131|590736", "text": "Hypotelorism" }, { - "baseId": "48180", + "upstreamId": "48180", "text": "PACS1-related syndrome" }, { - "baseId": "48187|48188|70502|70502|139368|251822|270125|270626|363941|363941|454742|454749|454815|454817|455307|455595|455600|455602|455604|513955|520924|520926|520927|521357|559833|560213|560334|562990|562995|562996|633635|633636|633637|691784|691785|691786|691787|691788|691789|691790|695283|698920|698921|698922|698924|698927|698928|698929|698930|698932|698933|698934|698935|698937|698938|698939|709731|709732|721300|721301|721302|721305|734934|749343|749349|830537|830538|918933|918934|923948|923949|944491|944492|944493|954093", + "upstreamId": "48187|48188|70502|70502|139368|251822|270125|270626|363941|363941|454742|454749|454815|454817|455307|455595|455600|455602|455604|513955|520924|520926|520927|521357|559833|560213|560334|562990|562995|562996|633635|633636|633637|691784|691785|691786|691787|691788|691789|691790|695283|698920|698921|698922|698924|698927|698928|698929|698930|698932|698933|698934|698935|698937|698938|698939|709731|709732|721300|721301|721302|721305|734934|749343|749349|830537|830538|918933|918934|923948|923949|944491|944492|944493|954093", "text": "Basal ganglia calcification, idiopathic, 4" }, { - "baseId": "48191|135824|195354|391252|427838|983535", + "upstreamId": "48191|135824|195354|391252|427838|983535", "text": "Early infantile epileptic encephalopathy 15" }, { - "baseId": 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+ "upstreamId": 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"text": "Early infantile epileptic encephalopathy 14" }, { - "baseId": 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+ "upstreamId": "48192|48192|48193|48194|48194|48196|48196|48197|48197|48198|48198|94262|94263|94264|97568|131953|131953|134797|134800|134801|134802|134804|134805|134806|134807|134808|134809|134810|134810|134811|134812|134813|134814|181176|190603|190604|191084|191085|191086|191275|191587|191944|192044|192045|192142|192143|192145|192779|192780|193143|193664|193793|194489|207650|207651|207652|207653|207654|207655|225839|225840|237102|240525|240527|240528|240529|240531|240532|259918|264399|264494|265856|270947|272505|273018|273452|273511|274244|274653|359914|361531|361532|361631|362336|370113|370123|370129|370135|370137|370147|370148|370157|370159|370162|370188|370555|370557|370592|370602|370609|370616|370625|370626|370633|370648|370673|370697|370701|370704|370708|370719|370725|370729|370730|370895|370902|370905|370929|370930|370937|370942|370972|370977|370982|370985|370988|370998|371009|371015|371017|371025|371033|371045|371052|371058|371073|372572|372631|372640|372655|372656|372693|372698|372700|372707|372719|372754|372755|372761|396706|396707|396710|396722|396723|396724|396728|396729|396730|396733|396900|396915|396917|396923|396924|396944|396946|396949|396953|397020|397025|397039|397045|397047|397299|397300|397305|397306|407610|407611|407614|407619|413802|413803|421727|425833|441324|441325|441326|444411|444414|444418|444419|444421|458856|458863|458864|458873|458875|458877|458887|458896|458904|458905|459229|459235|459238|459244|459246|459249|459251|459255|459258|459267|459275|459280|459281|459283|459285|459288|459294|459311|459313|459686|459691|459697|459700|459703|459705|459708|459710|459716|459718|459721|459724|459733|489409|491623|492800|494056|502387|502408|502410|502412|502717|502720|502722|503119|503147|503172|524324|524326|524327|524336|524338|524344|524594|524597|524599|524600|524606|524608|524610|524615|524621|524625|524632|524636|524759|524760|524763|524764|524782|524785|524787|524791|524797|524803|524807|524922|524927|524934|524936|524940|524942|524944|524949|536766|539020|539020|562987|562991|563002|563004|563006|563012|563019|563021|563025|563236|563736|563742|563744|563756|563757|563759|563764|563767|563769|563780|565734|565735|565740|565743|565745|565746|565748|568323|568810|568814|568817|568818|568818|568825|579550|579555|579560|579567|579621|579632|584641|586592|614339|637999|638000|638001|638002|638003|638004|638005|638006|638007|638008|638009|638010|638011|638012|638013|638014|638015|638016|638017|638018|638019|638020|638021|638022|638023|638024|638025|638026|638027|638028|638029|638030|638031|651838|651929|651991|652146|655924|655926|684064|684065|685248|687420|687421|687422|687424|687426|687427|687432|687433|689943|692634|692635|695429|695430|736998|737001|751536|759890|767261|767269|767270|767272|793336|793338|801995|801999|820096|820097|821984|821985|821986|821987|821988|821989|821990|821991|821992|821993|821994|821994|822267|835797|835798|835799|835800|835801|835802|835803|835804|835805|835806|835807|835808|835809|835810|835811|835812|835813|835814|835815|835816|835817|835818|835819|835820|835821|835822|835823|835824|835825|835826|835827|835828|851250|851253|851256|851730|852172|852174|859740|859741|919204|919204|919205|920269|920270|925475|925476|925477|925478|925479|925480|925481|925482|925483|925484|925485|925486|925487|925488|925489|925490|925491|925492|934641|934642|934643|934644|934645|934646|934647|946482|946483|946484|946485|946486|946487|946488|946489|946490|946491|946492|946493|946494|946495|946496|955753|955754|959916|964320|970902|977237", "text": "Epilepsy, nocturnal frontal lobe, 5" }, { - "baseId": "48200|244166|361080|438582|745480|745482", + "upstreamId": "48200|244166|361080|438582|745480|745482", "text": "Cowchock syndrome" }, { - "baseId": "48201|677303|919175", + "upstreamId": "48201|677303|919175", "text": "Familial episodic pain syndrome 1" }, { - "baseId": "48202|48203|48204|48205|48206|59640|59641|254707|267778|421948|462421|462427|462428|462435|462441|462686|504374|527322|527324|527636|527865|565685|567002|567010|567019|567030|568164|571166|571977|571983|622835|641352|641353|641355|693270|702462", + "upstreamId": "48202|48203|48204|48205|48206|59640|59641|254707|267778|421948|462421|462427|462428|462435|462441|462686|504374|527322|527324|527636|527865|565685|567002|567010|567019|567030|568164|571166|571977|571983|622835|641352|641353|641355|693270|702462", "text": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10" }, { - "baseId": "48207|206636|363982|481207|531433|531532|571709|574533|646229|646230|646231|646232|715547|715549|727264|740861|778274|785644|797564|845648|845649|845650|845651|845652|928385|950044|950045|958195", + "upstreamId": "48207|206636|363982|481207|531433|531532|571709|574533|646229|646230|646231|646232|715547|715549|727264|740861|778274|785644|797564|845648|845649|845650|845651|845652|928385|950044|950045|958195", "text": "Maternal riboflavin deficiency" }, { - "baseId": "48214|49912|207092|361804|361805|495159|513266|514291|583091|653865|653916|790431|792742", + "upstreamId": "48214|49912|207092|361804|361805|495159|513266|514291|583091|653865|653916|790431|792742", "text": "Alazami syndrome" }, { - "baseId": "48215|48216|48217|512805", + "upstreamId": "48215|48216|48217|512805", "text": "Cleft palate, isolated" }, { - "baseId": "48219|48220|204531|211115|211116|211118|227279|622070|622071|622072|970486", + "upstreamId": "48219|48220|204531|211115|211116|211118|227279|622070|622071|622072|970486", "text": "Perrault syndrome 2" }, { - "baseId": "48225|48226|48227|48228|48229|48230|48231|48232|48233|213629|213630|273614|361211|361212|362440|362441|409073|421974|424700|430983|481349|511012|551314|551315|552171|623318|653887|798671|799764|816021|857656|919512|919513|919514|919515|961529|964097|964680|969708", + "upstreamId": "48225|48226|48227|48228|48229|48230|48231|48232|48233|213629|213630|273614|361211|361212|362440|362441|409073|421974|424700|430983|481349|511012|551314|551315|552171|623318|653887|798671|799764|816021|857656|919512|919513|919514|919515|961529|964097|964680|969708", "text": "Autism, susceptibility to, 18" }, { - "baseId": "48236|48237|48238|48239|48240|533213|679723", + "upstreamId": "48236|48237|48238|48239|48240|533213|679723", "text": "Ciliary dyskinesia, primary, 20" }, { - "baseId": "48253|48254|48255|137052|213551|227078|247398|259764|259765|264142|264159|406301|421442|424246|428176|443452|495185|550355|550356|551769|552074|552075|553377|589801|589831|623275|653859|798531|798532|805344|903521|918237|964223|967266|969251", + "upstreamId": "48253|48254|48255|137052|213551|227078|247398|259764|259765|264142|264159|406301|421442|424246|428176|443452|495185|550355|550356|551769|552074|552075|553377|589801|589831|623275|653859|798531|798532|805344|903521|918237|964223|967266|969251", "text": "Mental retardation, autosomal dominant 19" }, { - "baseId": "48264|48265|76353|206722|259631|263969|361157|362431|364424|404923|423707|423708|425312|427639|427641|442546|535694|550761|575485|611374|614074|625784|626365|653912|789845|789846|804861|904242|918559|918560|920126|965735|969549|970369|970370|970514|970661|976640", + "upstreamId": "48264|48265|76353|206722|259631|263969|361157|362431|364424|404923|423707|423708|425312|427639|427641|442546|535694|550761|575485|611374|614074|625784|626365|653912|789845|789846|804861|904242|918559|918560|920126|965735|969549|970369|970370|970514|970661|976640", "text": "Mental retardation, autosomal dominant 18" }, { - "baseId": "48270|48271|48272|48273|222375|241849|241850|241851|241852|373109|373113|373868|376092|376094|399679|399681|399687|400219|400417|409131|463305|463814|464159|464308|464312|528668|528669|528672|528674|566500|568941|572814|572815|572818|642504|642505|642506|642507|642508|642509|642510|652952|684498|684499|685399|688307|688308|714161|788882|841551|841552|841553|841554|841555|841556|841557|841558|851559|927098|927099|927100|927101|927102|936637|948586|948587|948588|957233|957234|957235|960805", + "upstreamId": "48270|48271|48272|48273|222375|241849|241850|241851|241852|373109|373113|373868|376092|376094|399679|399681|399687|400219|400417|409131|463305|463814|464159|464308|464312|528668|528669|528672|528674|566500|568941|572814|572815|572818|642504|642505|642506|642507|642508|642509|642510|652952|684498|684499|685399|688307|688308|714161|788882|841551|841552|841553|841554|841555|841556|841557|841558|851559|927098|927099|927100|927101|927102|936637|948586|948587|948588|957233|957234|957235|960805", "text": "Spastic paraplegia 28, autosomal recessive" }, { - "baseId": "48274|222358|222359|241778|241779|241780|360152|361210|372956|372957|372958|372959|373686|373687|373699|374019|375849|375852|399487|399535|399540|399544|399548|399644|399645|399647|399652|399653|400073|400076|400080|400261|400265|445179|445180|445181|463046|463530|463813|463816|463818|504405|504654|504943|505327|527928|527932|527935|527937|527952|528270|528411|528412|528414|539052|547272|547431|566230|566232|566233|567813|567824|568694|568698|568699|568710|572669|572673|572676|572677|572678|642112|642113|642114|642115|642116|642117|642118|642119|642120|642121|642122|684433|684434|684435|684436|684437|684438|684439|684440|684441|684442|684443|684444|684445|684446|684447|684448|684449|684450|684451|684452|684453|685391|688209|688210|688211|688212|688214|688215|688216|688217|688218|688219|688220|688221|688222|688223|688224|688225|688226|688227|688228|688229|688230|688231|688232|688233|688234|688235|688236|688238|688239|688240|690071|690072|690073|693418|693419|693420|693422|695607|695608|702767|702768|702769|725567|725568|739124|739125|739126|739127|739128|769673|769675|769676|769677|775970|784648|784649|784656|820594|820595|820596|841069|841070|841071|841072|841073|841074|841075|841076|841077|926965|926966|936517|936518|948438|948439|948440|948441|957148|957149|957150|957151|957152|957153|957154|957155|961032|961034|961222|961312|961313|961811|962132|965618|966617|979423|979424|979425|979426|979427|979428|979429|979430|979431|979432|979433|979434|979435|979436|979437|979438|979439|979440|979441|979442|979443|979444|979445|979446|979447|979448|979449|979450|979451|979452|979453|979454|979455|979456|979457|979458|979459|979460|979461|979462|979463|979464|979465|979466|979467|983706|983707|983708", + "upstreamId": "48274|222358|222359|241778|241779|241780|360152|361210|372956|372957|372958|372959|373686|373687|373699|374019|375849|375852|399487|399535|399540|399544|399548|399644|399645|399647|399652|399653|400073|400076|400080|400261|400265|445179|445180|445181|463046|463530|463813|463816|463818|504405|504654|504943|505327|527928|527932|527935|527937|527952|528270|528411|528412|528414|539052|547272|547431|566230|566232|566233|567813|567824|568694|568698|568699|568710|572669|572673|572676|572677|572678|642112|642113|642114|642115|642116|642117|642118|642119|642120|642121|642122|684433|684434|684435|684436|684437|684438|684439|684440|684441|684442|684443|684444|684445|684446|684447|684448|684449|684450|684451|684452|684453|685391|688209|688210|688211|688212|688214|688215|688216|688217|688218|688219|688220|688221|688222|688223|688224|688225|688226|688227|688228|688229|688230|688231|688232|688233|688234|688235|688236|688238|688239|688240|690071|690072|690073|693418|693419|693420|693422|695607|695608|702767|702768|702769|725567|725568|739124|739125|739126|739127|739128|769673|769675|769676|769677|775970|784648|784649|784656|820594|820595|820596|841069|841070|841071|841072|841073|841074|841075|841076|841077|926965|926966|936517|936518|948438|948439|948440|948441|957148|957149|957150|957151|957152|957153|957154|957155|961032|961034|961222|961312|961313|961811|962132|965618|966617|979423|979424|979425|979426|979427|979428|979429|979430|979431|979432|979433|979434|979435|979436|979437|979438|979439|979440|979441|979442|979443|979444|979445|979446|979447|979448|979449|979450|979451|979452|979453|979454|979455|979456|979457|979458|979459|979460|979461|979462|979463|979464|979465|979466|979467|983706|983707|983708", "text": "Spastic paraplegia 49, autosomal recessive" }, { - "baseId": "48275|48276|48277|48278|48279|48280|96876|106844|207544|207546|370223|370224|371848|421672|428832|428833|428836|444273|457829|457833|457836|457840|457846|458891|458897|502017|502019|523554|523557|523882|524143|524154|562947|565113|565117|622389|622390|626175|637196|637197|637198|637199|637200|637201|651724|651967|655863|684005|684006|684007|687279|736641|744421|766801|796170|834736|834737|925197|934301|934302|940103|955406|955407", + "upstreamId": "48275|48276|48277|48278|48279|48280|96876|106844|207544|207546|370223|370224|371848|421672|428832|428833|428836|444273|457829|457833|457836|457840|457846|458891|458897|502017|502019|523554|523557|523882|524143|524154|562947|565113|565117|622389|622390|626175|637196|637197|637198|637199|637200|637201|651724|651967|655863|684005|684006|684007|687279|736641|744421|766801|796170|834736|834737|925197|934301|934302|940103|955406|955407", "text": "Spastic paraplegia 54, autosomal recessive" }, { - "baseId": "48283|240162|396135|396417|523259|677206", + "upstreamId": "48283|240162|396135|396417|523259|677206", "text": "Ciliary dyskinesia, primary, 18" }, { - "baseId": "48284|48285|48286|490904|609316", + "upstreamId": "48284|48285|48286|490904|609316", "text": "Deafness, autosomal recessive 48" }, { - "baseId": "48287", + "upstreamId": "48287", "text": "Usher syndrome, type 1J" }, { - "baseId": "48288", + "upstreamId": "48288", "text": "HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO" }, { - "baseId": "48289|48290|48291|48292", + "upstreamId": "48289|48290|48291|48292", "text": "Hypogonadotropic hypogonadism 15 with anosmia" }, { - "baseId": "48293|48294|77869|77870|77871|134667|191229|191682|208938|208940|225851|237535|363640|363654|364204|377886|379012|379014|379020|379114|379118|379963|379964|379966|379969|380161|413849|430711|433601|439210|495892|507840|507934|507939|507963|508547|508552|534608|538505|572329|573671|649804|649805|649806|649807|649808|649809|729498|729499|729500|729501|743223|743224|743230|758367|758368|758370|758373|773878|773879|773884|773885|786745|786746|849772|849773|849774|849775|849776|849777|929610|939479|951654|951655|951656|951657|959195|959196|959197|960367|971190", + "upstreamId": "48293|48294|77869|77870|77871|134667|191229|191682|208938|208940|225851|237535|363640|363654|364204|377886|379012|379014|379020|379114|379118|379963|379964|379966|379969|380161|413849|430711|433601|439210|495892|507840|507934|507939|507963|508547|508552|534608|538505|572329|573671|649804|649805|649806|649807|649808|649809|729498|729499|729500|729501|743223|743224|743230|758367|758368|758370|758373|773878|773879|773884|773885|786745|786746|849772|849773|849774|849775|849776|849777|929610|939479|951654|951655|951656|951657|959195|959196|959197|960367|971190", "text": "Mental retardation 3, X-linked" }, { - "baseId": "48295|438794|466807|570578|610028|614430|816340|920365|971056", + "upstreamId": "48295|438794|466807|570578|610028|614430|816340|920365|971056", "text": "Autoinflammation, antibody deficiency, and immune dysregulation, plcg2-associated" }, { - "baseId": "48296|181182|181183|214533|231511|231521|244152|244340|244341|245298|248727|274228|366203|366375|421363|433504|448534|450538|450735|450737|450744|499536|499934|517820|517823|517826|517841|517843|557884|557935|557937|557939|559123|559125|560944|560946|560950|612349|629480|629481|629482|629483|629484|629485|629486|629487|650942|695116|695117|697338|743878|825755|825756|825757|825758|825759|825760|825761|825762|825763|825764|851151|851400|861336|922580|922581|922582|922583|931157|931158|940695|942614|942615|942616|952945|952946|952947|952948", + "upstreamId": "48296|181182|181183|214533|231511|231521|244152|244340|244341|245298|248727|274228|366203|366375|421363|433504|448534|450538|450735|450737|450744|499536|499934|517820|517823|517826|517841|517843|557884|557935|557937|557939|559123|559125|560944|560946|560950|612349|629480|629481|629482|629483|629484|629485|629486|629487|650942|695116|695117|697338|743878|825755|825756|825757|825758|825759|825760|825761|825762|825763|825764|851151|851400|861336|922580|922581|922582|922583|931157|931158|940695|942614|942615|942616|952945|952946|952947|952948", "text": "Spinal muscular atrophy, distal, autosomal recessive, 5" }, { - "baseId": "48297|48298|76384|390115|536051|536052|538453|679722|857599|858651|919676", + "upstreamId": "48297|48298|76384|390115|536051|536052|538453|679722|857599|858651|919676", "text": "Ciliary dyskinesia, primary, 5" }, { - "baseId": "48304|362837|362932", + "upstreamId": "48304|362837|362932", "text": "Malignant tumor of floor of mouth" }, { - "baseId": "48306|134026|134028|134031|134032|134033|134041|134042|134048|134053|134055|188860|208179|208186|208189|208191|208192|214161|322442|322445|322451|322454|331758|331762|331774|331775|331781|331782|331787|331791|331796|331799|331806|338741|338743|338746|338760|338762|338768|338770|338775|338778|338786|338795|338802|338807|340387|340392|340399|340401|361348|409214|409217|429654|429657|438764|486759|486760|739584|739586|739587|745083|754409|754410|754411|797117|873383|873384|873385|873386|873387|873388|873389|873390|873391|873392|873393|873394|873395|873396|873397|873398|873399|873400|873401|873402|873403|873404|873405|873406|873407|873408|873409|873410|873411|873412|873413|873414|873415|873416|873418|876494|876495|876496|876497|980952", + "upstreamId": "48306|134026|134028|134031|134032|134033|134041|134042|134048|134053|134055|188860|208179|208186|208189|208191|208192|214161|322442|322445|322451|322454|331758|331762|331774|331775|331781|331782|331787|331791|331796|331799|331806|338741|338743|338746|338760|338762|338768|338770|338775|338778|338786|338795|338802|338807|340387|340392|340399|340401|361348|409214|409217|429654|429657|438764|486759|486760|739584|739586|739587|745083|754409|754410|754411|797117|873383|873384|873385|873386|873387|873388|873389|873390|873391|873392|873393|873394|873395|873396|873397|873398|873399|873400|873401|873402|873403|873404|873405|873406|873407|873408|873409|873410|873411|873412|873413|873414|873415|873416|873418|876494|876495|876496|876497|980952", "text": "Primary autosomal recessive microcephaly 4" }, { - "baseId": "48308|229112|229117|389221|404767|496365|508788|622332|622333|790409|790410|790411|790412", + "upstreamId": "48308|229112|229117|389221|404767|496365|508788|622332|622333|790409|790410|790411|790412", "text": "Sinoatrial node dysfunction and deafness" }, { - "baseId": "48314|48315|48316|79722|79724|79726|79727|613937", + "upstreamId": "48314|48315|48316|79722|79724|79726|79727|613937", "text": "Hypogonadotropic hypogonadism 16 with or without anosmia" }, { - "baseId": "48322|446880|446881", + "upstreamId": "48322|446880|446881", "text": "Peroxisome biogenesis disorder 14B" }, { - "baseId": "48331|48332|48333|48334|48335|48336|791480", + "upstreamId": "48331|48332|48333|48334|48335|48336|791480", "text": "Keratosis palmoplantaris papulosa" }, { - "baseId": "48339", + "upstreamId": "48339", "text": "Diamond-Blackfan anemia 11" }, { - "baseId": "48340|268394|369870|457690|458281|458285|502423|513201|523684|523687|562252|562253|562777|562781|567730|637007|637008|637009|637010|651772|683993|683996|736559|777760|834522|834523|834524|834525|834526|940897|945995|955377", + "upstreamId": "48340|268394|369870|457690|458281|458285|502423|513201|523684|523687|562252|562253|562777|562781|567730|637007|637008|637009|637010|651772|683993|683996|736559|777760|834522|834523|834524|834525|834526|940897|945995|955377", "text": "Spastic paraplegia 53, autosomal recessive" }, { - "baseId": "48341", + "upstreamId": "48341", "text": "Microphthalmia, isolated, with coloboma 8" }, { - "baseId": "48342|48343|48344|133971|190847|190848|191230|194423|274071|429787|493682|589815|644614|653268|714885|714886|731066|770873|779766|843770|927784|949374|949375|957737", + "upstreamId": "48342|48343|48344|133971|190847|190848|191230|194423|274071|429787|493682|589815|644614|653268|714885|714886|731066|770873|779766|843770|927784|949374|949375|957737", "text": "Branched-chain keto acid dehydrogenase kinase deficiency" }, { - "baseId": "48356|48357|48357|171781|373940|374397|464413|464415|464421|464422|528327|528408|528802|642780|642781|841903|927193|927194|948723", + "upstreamId": "48356|48357|48357|171781|373940|374397|464413|464415|464421|464422|528327|528408|528802|642780|642781|841903|927193|927194|948723", "text": "Ventricular tachycardia, catecholaminergic polymorphic, 4" }, { - "baseId": "48357|171781|181363|181364|181365|373940|374397|464413|464415|464421|464422|528327|528408|528802|642780|642781|841903|927193|927194|948723|962908|962909", + "upstreamId": "48357|171781|181363|181364|181365|373940|374397|464413|464415|464421|464422|528327|528408|528802|642780|642781|841903|927193|927194|948723|962908|962909", "text": "Long QT syndrome 14" }, { - "baseId": "48363|48364|152761|171703|171704|361812|434606|653811|653812|788793|790600|792755|904229|970058", + "upstreamId": "48363|48364|152761|171703|171704|361812|434606|653811|653812|788793|790600|792755|904229|970058", "text": "Combined oxidative phosphorylation deficiency 11" }, { - "baseId": "48365|805021", + "upstreamId": "48365|805021", "text": "Lethal congenital contracture syndrome 4" }, { - "baseId": "48366|48367|48368|626304", + "upstreamId": "48366|48367|48368|626304", "text": "Linear skin defects with multiple congenital anomalies 2" }, { - "baseId": "48369|131913|131914|513536|816449", + "upstreamId": "48369|131913|131914|513536|816449", "text": "Bardet-Biedl syndrome 17" }, { - "baseId": "48374|76988|193095|215609|243730|243731|243732|243733|243734|243735|243736|270733|360560|377682|377690|377692|377694|377700|378831|378838|378845|378850|378855|378940|378941|378944|378947|378949|379895|379897|404048|404049|404070|404072|404074|404432|404434|404478|411101|411104|411105|411107|422404|426400|442385|470449|470450|471230|471680|471684|471685|472046|488365|507682|507786|507790|507797|507804|508260|508285|508292|508467|508472|508477|508478|534443|534446|534449|534483|534486|534488|534582|534589|534590|534996|534997|572176|573521|574248|575316|575317|575318|575319|575320|577925|577926|580629|614498|649629|649630|649631|649632|649633|649634|649635|649636|649637|649638|649639|649640|649641|649642|649643|649644|649645|649646|649647|649648|656727|684940|689323|689326|689328|689329|689330|706077|706078|706079|729367|729368|743106|773707|773708|773711|773712|802042|821547|822209|822210|822211|822212|822213|849558|849559|849560|849561|849562|849563|849564|849565|849566|849567|849568|849569|849570|849571|849572|849573|849574|849575|849576|858366|929540|929541|929542|929543|929544|929545|929546|929547|929548|939402|939403|939404|939405|939406|939407|939408|939409|951575|951576|951577|951578|951579|959155|960357|964566|971174", + "upstreamId": "48374|76988|193095|215609|243730|243731|243732|243733|243734|243735|243736|270733|360560|377682|377690|377692|377694|377700|378831|378838|378845|378850|378855|378940|378941|378944|378947|378949|379895|379897|404048|404049|404070|404072|404074|404432|404434|404478|411101|411104|411105|411107|422404|426400|442385|470449|470450|471230|471680|471684|471685|472046|488365|507682|507786|507790|507797|507804|508260|508285|508292|508467|508472|508477|508478|534443|534446|534449|534483|534486|534488|534582|534589|534590|534996|534997|572176|573521|574248|575316|575317|575318|575319|575320|577925|577926|580629|614498|649629|649630|649631|649632|649633|649634|649635|649636|649637|649638|649639|649640|649641|649642|649643|649644|649645|649646|649647|649648|656727|684940|689323|689326|689328|689329|689330|706077|706078|706079|729367|729368|743106|773707|773708|773711|773712|802042|821547|822209|822210|822211|822212|822213|849558|849559|849560|849561|849562|849563|849564|849565|849566|849567|849568|849569|849570|849571|849572|849573|849574|849575|849576|858366|929540|929541|929542|929543|929544|929545|929546|929547|929548|939402|939403|939404|939405|939406|939407|939408|939409|951575|951576|951577|951578|951579|959155|960357|964566|971174", "text": "Epileptic encephalopathy, early infantile, 36" }, { - "baseId": "48376", + "upstreamId": "48376", "text": "Acampomelic campomelic dysplasia with autosomal sex reversal" }, { - "baseId": "48377|48378|48379|486664|495308|497435|497650|512934|623313|672142|961373", + "upstreamId": "48377|48378|48379|486664|495308|497435|497650|512934|623313|672142|961373", "text": "Deafness, autosomal recessive 84b" }, { - "baseId": "48380|48381|59678", + "upstreamId": "48380|48381|59678", "text": "Ectodermal dysplasia 9, hair/nail type" }, { - "baseId": "48386|48387|48388|48389|48390|48391|48392|140886|140887|140888|140889|140890|140893|140894|260092|260347|260348|275196|324769|324772|324777|324779|324783|324787|324788|324791|334370|334378|334380|334386|334387|334389|334396|334399|334401|334404|340988|340991|340995|340996|340998|340999|341005|341006|342490|342491|342493|342495|342498|342500|342503|342511|342519|342521|342522|342528|342532|374227|375245|413435|434650|445541|513356|550035|740039|791560|791561|858723|874968|874969|874970|874971|874972|874973|874974|874975|874976|874977|874978|874979|874980|874981|874982|874983|874984|874985|874986|874987|874988|874989|874990|876647|961327|961566|961567", + "upstreamId": "48386|48387|48388|48389|48390|48391|48392|140886|140887|140888|140889|140890|140893|140894|260092|260347|260348|275196|324769|324772|324777|324779|324783|324787|324788|324791|334370|334378|334380|334386|334387|334389|334396|334399|334401|334404|340988|340991|340995|340996|340998|340999|341005|341006|342490|342491|342493|342495|342498|342500|342503|342511|342519|342521|342522|342528|342532|374227|375245|413435|434650|445541|513356|550035|740039|791560|791561|858723|874968|874969|874970|874971|874972|874973|874974|874975|874976|874977|874978|874979|874980|874981|874982|874983|874984|874985|874986|874987|874988|874989|874990|876647|961327|961566|961567", "text": "Combined oxidative phosphorylation deficiency 12" }, { - "baseId": "48393|48394|48395|48396|48397|76938|205560|253032|253033|253034|253036|253039|253040|253041|253042|304275|307929|313041|313043|313045|313046|457209|457801|457810|457830|458207|458212|458224|458227|523011|523012|523019|523271|523276|523278|523502|523507|523632|562371|564643|564653|564657|567375|567382|636604|636605|636606|636607|636608|636609|651921|651925|651932|700397|722850|722851|736434|750909|766536|777899|834142|834143|834144|834145|834146|851181|898901|898902|898903|898904|898905|898906|898907|898908|898909|898910|898911|898912|898913|900442|900443|925020|925021|934098|955291|955292|955293", + "upstreamId": "48393|48394|48395|48396|48397|76938|205560|253032|253033|253034|253036|253039|253040|253041|253042|304275|307929|313041|313043|313045|313046|457209|457801|457810|457830|458207|458212|458224|458227|523011|523012|523019|523271|523276|523278|523502|523507|523632|562371|564643|564653|564657|567375|567382|636604|636605|636606|636607|636608|636609|651921|651925|651932|700397|722850|722851|736434|750909|766536|777899|834142|834143|834144|834145|834146|851181|898901|898902|898903|898904|898905|898906|898907|898908|898909|898910|898911|898912|898913|900442|900443|925020|925021|934098|955291|955292|955293", "text": "Ciliary dyskinesia, primary, 19" }, { - "baseId": "48400|205731|205732|205732|210875|210875|210883|214827|247641|247642|539469|578332|578333|578334|578335|790283|857612|983739", + "upstreamId": "48400|205731|205732|205732|210875|210875|210883|214827|247641|247642|539469|578332|578333|578334|578335|790283|857612|983739", "text": "Combined oxidative phosphorylation deficiency 13" }, { - "baseId": "48401|205732|210875|210883|857612|961218|961219", + "upstreamId": "48401|205732|210875|210883|857612|961218|961219", "text": "Deafness, autosomal recessive 70" }, { - "baseId": "48402", + "upstreamId": "48402", "text": "Myoclonus, familial 1" }, { - "baseId": "48405|48406|264453|512928|857387", + "upstreamId": "48405|48406|264453|512928|857387", "text": "Vitreoretinopathy, neovascular inflammatory" }, { - "baseId": "48407|153720|237463|468564|468572|468574|468583|468586|468590|469934|469938|469943|470537|470540|470551|508919|508920|532766|532787|587942|613616|647843|647844|647845|672110|694361|694362|716298|728042|745056|772528|772530|791917|821245|847446|847447|847448|847449|847450|919843|919844|920404|958578|964518|964888|983288", + "upstreamId": "48407|153720|237463|468564|468572|468574|468583|468586|468590|469934|469938|469943|470537|470540|470551|508919|508920|532766|532787|587942|613616|647843|647844|647845|672110|694361|694362|716298|728042|745056|772528|772530|791917|821245|847446|847447|847448|847449|847450|919843|919844|920404|958578|964518|964888|983288", "text": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1" }, { - "baseId": "48413|48414|48415|244143|263837|447955|448037|448041|481588|515818|798467|850670|920096|951950|951951|951952|983284", + "upstreamId": "48413|48414|48415|244143|263837|447955|448037|448041|481588|515818|798467|850670|920096|951950|951951|951952|983284", "text": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2" }, { - "baseId": "48413|805108", + "upstreamId": "48413|805108", "text": "Capillary hemangiomas" }, { - "baseId": "48413|98875|305750|360822|360912|360923|360955|429431|432203|432204|432223|432224|540525|540526|801078|965430", + "upstreamId": "48413|98875|305750|360822|360912|360923|360955|429431|432203|432204|432223|432224|540525|540526|801078|965430", "text": "Polymicrogyria" }, { - "baseId": "48416|48417|48418|199795|230054|230063|404796|404797|404798|404799|404800|404801|444762|481984|488236|511040|612153|857680|859852|965209|967272|975898", + "upstreamId": "48416|48417|48418|199795|230054|230063|404796|404797|404798|404799|404800|404801|444762|481984|488236|511040|612153|857680|859852|965209|967272|975898", "text": "Deafness, autosomal recessive 18b" }, { - "baseId": "48420|48421|48421|136033|136034|136035|136036|208303|255873|255874|268656|269848|270909|271936|375420|375626|375630|429844|464841|465438|465556|466760|492696|505498|505756|506486|530534|530537|530768|568327|570534|644975|644976|644977|644978|644979|656386|693932|703818|715077|715078|755385|791642|844290|844291|937600|937601|937602|960855", + "upstreamId": "48420|48421|48421|136033|136034|136035|136036|208303|255873|255874|268656|269848|270909|271936|375420|375626|375630|429844|464841|465438|465556|466760|492696|505498|505756|506486|530534|530537|530768|568327|570534|644975|644976|644977|644978|644979|656386|693932|703818|715077|715078|755385|791642|844290|844291|937600|937601|937602|960855", "text": "Joubert syndrome 20" }, { - "baseId": "48421|75583|75584|136034|136035|136036|208303|237177|255874|268656|269848|270909|271936|375420|375626|375630|429844|429844|429845|464841|465438|465556|466760|492696|505498|505756|506486|530534|530537|530768|568327|570534|583126|622913|644975|644976|644977|644978|644979|656386|693932|703818|715077|715078|755385|844290|844291|937600|937601|937602|960855", + "upstreamId": "48421|75583|75584|136034|136035|136036|208303|237177|255874|268656|269848|270909|271936|375420|375626|375630|429844|429844|429845|464841|465438|465556|466760|492696|505498|505756|506486|530534|530537|530768|568327|570534|583126|622913|644975|644976|644977|644978|644979|656386|693932|703818|715077|715078|755385|844290|844291|937600|937601|937602|960855", "text": "Meckel syndrome, type 11" }, { - "baseId": "48422", + "upstreamId": "48422", "text": "Mental retardation, X-linked, syndromic 32" }, { - "baseId": "48423|48424|48425|140991|140992|140993|140994|140995|211247|211248|211249|211250|211252|211253|211254|211255|211257|211258|211259|211260|211262|247570|252444|363986|368681|368988|369007|369157|370501|421595|455121|455655|455657|455850|455852|455854|455856|455894|456258|456263|456585|456590|481208|481383|481384|501381|501674|501770|511685|521641|521702|521895|522053|522082|522083|522411|522412|560763|560904|563265|563273|563679|565749|565755|578604|578605|578606|578607|578608|578609|578610|578611|578612|578613|578614|578615|578616|578617|578618|578619|578620|578621|578622|578623|578624|578625|578626|578627|578629|578630|578631|578632|578633|578634|578635|635003|635004|635005|635006|635007|635008|635009|635010|635011|635012|692013|699637|699638|710563|722073|787413|801560|819701|832064|832065|832066|832067|832068|832069|832070|832071|832072|832073|832074|832075|832076|832077|832078|832155|919043|924382|924383|924384|924385|924386|924387|924388|924389|924415|933365|933366|933367|933368|933369|933370|933371|945071|945072|945073|945074|945075|945076|945077|954504|954796|959808|962036|962037|962038", + "upstreamId": "48423|48424|48425|140991|140992|140993|140994|140995|211247|211248|211249|211250|211252|211253|211254|211255|211257|211258|211259|211260|211262|247570|252444|363986|368681|368988|369007|369157|370501|421595|455121|455655|455657|455850|455852|455854|455856|455894|456258|456263|456585|456590|481208|481383|481384|501381|501674|501770|511685|521641|521702|521895|522053|522082|522083|522411|522412|560763|560904|563265|563273|563679|565749|565755|578604|578605|578606|578607|578608|578609|578610|578611|578612|578613|578614|578615|578616|578617|578618|578619|578620|578621|578622|578623|578624|578625|578626|578627|578629|578630|578631|578632|578633|578634|578635|635003|635004|635005|635006|635007|635008|635009|635010|635011|635012|692013|699637|699638|710563|722073|787413|801560|819701|832064|832065|832066|832067|832068|832069|832070|832071|832072|832073|832074|832075|832076|832077|832078|832155|919043|924382|924383|924384|924385|924386|924387|924388|924389|924415|933365|933366|933367|933368|933369|933370|933371|945071|945072|945073|945074|945075|945076|945077|954504|954796|959808|962036|962037|962038", "text": "Combined oxidative phosphorylation deficiency 14" }, { - "baseId": "48426|48427|48428|48429|125903|137060|137061|137062|141967|213637|429712|434648|481417|538446", + "upstreamId": "48426|48427|48428|48429|125903|137060|137061|137062|141967|213637|429712|434648|481417|538446", "text": "Combined oxidative phosphorylation deficiency 15" }, { - "baseId": "48426|48429", + "upstreamId": "48426|48429", "text": "Mitochondrial complex 1 deficiency, nuclear type 27" }, { - "baseId": "48430|247690|247691|247692|536071|622320|983735", + "upstreamId": "48430|247690|247691|247692|536071|622320|983735", "text": "Encephalopathy due to defective mitochondrial and peroxisomal fission 2" }, { - "baseId": "48435|246907", + "upstreamId": "48435|246907", "text": "Mitochondrial complex 1 deficiency, nuclear type 25" }, { - "baseId": "48436|48437", + "upstreamId": "48436|48437", "text": "Pontocerebellar hypoplasia type 8" }, { - "baseId": "48438|508950|508951|508952|508953|508954|508955|508956|552246|626291", + "upstreamId": "48438|508950|508951|508952|508953|508954|508955|508956|552246|626291", "text": "Spinocerebellar ataxia, X-linked 1" }, { - "baseId": "48442", + "upstreamId": "48442", "text": "Focal facial dermal dysplasia 4" }, { - "baseId": "48444|48445|48446|48447|215573|237201|430235|438904|468854|468859|468860|468865|468878|468880|468884|469881|469883|469885|469886|469888|469893|469899|470300|470303|470305|470307|470310|470314|470315|470978|470979|470981|470982|470985|470988|470999|471002|471004|533071|533081|533148|533153|533156|533176|533178|533183|533572|533573|533594|537331|551332|551333|552219|552220|552221|570840|570842|573170|573171|573172|573176|573177|573178|574785|574987|574988|574991|574992|648161|648162|648163|648164|648165|648166|648167|648168|648169|648170|689090|689091|689093|689094|689096|690219|694444|694445|694447|694450|694454|694462|694463|695829|705046|705047|705048|705049|705054|716489|728220|728223|731285|741943|760729|760814|847755|847756|847757|847758|847759|847760|847761|847762|847763|920411|928990|928991|928992|928993|928994|938720|938721|938722|938723|938724|938725|941233|950816|950817|950818|958652|983501", + "upstreamId": "48444|48445|48446|48447|215573|237201|430235|438904|468854|468859|468860|468865|468878|468880|468884|469881|469883|469885|469886|469888|469893|469899|470300|470303|470305|470307|470310|470314|470315|470978|470979|470981|470982|470985|470988|470999|471002|471004|533071|533081|533148|533153|533156|533176|533178|533183|533572|533573|533594|537331|551332|551333|552219|552220|552221|570840|570842|573170|573171|573172|573176|573177|573178|574785|574987|574988|574991|574992|648161|648162|648163|648164|648165|648166|648167|648168|648169|648170|689090|689091|689093|689094|689096|690219|694444|694445|694447|694450|694454|694462|694463|695829|705046|705047|705048|705049|705054|716489|728220|728223|731285|741943|760729|760814|847755|847756|847757|847758|847759|847760|847761|847762|847763|920411|928990|928991|928992|928993|928994|938720|938721|938722|938723|938724|938725|941233|950816|950817|950818|958652|983501", "text": "Carpenter syndrome 2" }, { - "baseId": "48448|48449|48450|48451|48452|99372|257747|257748|257749|352786|677332|677333|678986|678987|678995|679001|798806|918120|918121|918122", + "upstreamId": "48448|48449|48450|48451|48452|99372|257747|257748|257749|352786|677332|677333|678986|678987|678995|679001|798806|918120|918121|918122", "text": "Hypothyroidism, central, and testicular enlargement" }, { - "baseId": "48453|495299|792763|792764", + "upstreamId": "48453|495299|792763|792764", "text": "Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma" }, { - "baseId": "48454|48455|48456|48457|48458|94288|193194|247147|256619|256620|256621|256622|256623|256624|256626|256627|256630|256633|256635|256637|256644|264720|265513|266331|266895|266900|267475|267986|267997|268729|268800|269069|269118|269363|269413|269419|269529|269976|270197|270429|271263|271422|273366|273875|273918|274265|362645|362646|442023|467908|468787|468797|468798|468799|468806|469610|469614|488928|489611|489627|489628|489772|490356|492081|492910|532161|532170|532172|532179|532183|532266|532547|532551|532553|570055|570059|571839|572693|574713|584398|585589|586462|587284|588633|647099|647100|647101|647102|647103|647104|647105|647106|647107|647108|647109|647110|694256|694258|715915|785879|787997|846711|846712|846713|846714|846715|846716|846717|846718|846719|852808|852929|928665|928666|928667|928668|938388|938389|938390|938391|938392|950466|950467|950468|950469|950470|950471|950472|950473|950474|950475|958444|958445|958446|958447|958448|960259|960260", + "upstreamId": "48454|48455|48456|48457|48458|94288|193194|247147|256619|256620|256621|256622|256623|256624|256626|256627|256630|256633|256635|256637|256644|264720|265513|266331|266895|266900|267475|267986|267997|268729|268800|269069|269118|269363|269413|269419|269529|269976|270197|270429|271263|271422|273366|273875|273918|274265|362645|362646|442023|467908|468787|468797|468798|468799|468806|469610|469614|488928|489611|489627|489628|489772|490356|492081|492910|532161|532170|532172|532179|532183|532266|532547|532551|532553|570055|570059|571839|572693|574713|584398|585589|586462|587284|588633|647099|647100|647101|647102|647103|647104|647105|647106|647107|647108|647109|647110|694256|694258|715915|785879|787997|846711|846712|846713|846714|846715|846716|846717|846718|846719|852808|852929|928665|928666|928667|928668|938388|938389|938390|938391|938392|950466|950467|950468|950469|950470|950471|950472|950473|950474|950475|958444|958445|958446|958447|958448|960259|960260", "text": "Facioscapulohumeral muscular dystrophy 2" }, { - "baseId": "48459|48460|48461|165628|361148|363858|437976|441703|441707|508883|612444|622425|906375|906378|919550", + "upstreamId": "48459|48460|48461|165628|361148|363858|437976|441703|441707|508883|612444|622425|906375|906378|919550", "text": "Congenital hydrocephalus 1" }, { - "baseId": "48487|48488|48489|48490|48491|48492|614663|614664|614665|791850", + "upstreamId": "48487|48488|48489|48490|48491|48492|614663|614664|614665|791850", "text": "Dystonia 25" }, { - "baseId": "48495|223024|227149|227467|354299|360849|360877|360940|360941|361091|362152|362157|362165|415601|434101|496932|513979|514091|514107|514163|514168|514186|514193|514199|581713|590047|590048|590736|620168|623231|678055|679509|679510|679511|679512|679513|801079|801225", + "upstreamId": "48495|223024|227149|227467|354299|360849|360877|360940|360941|361091|362152|362157|362165|415601|434101|496932|513979|514091|514107|514163|514168|514186|514193|514199|581713|590047|590048|590736|620168|623231|678055|679509|679510|679511|679512|679513|801079|801225", "text": "Generalized hypotonia" }, { - "baseId": "48499|243872|243880|415068|421603|514544|514546|535659|535661|535662|615878|615879|615880|615881|615882|615883|615884|622372|626381|805515|815985|816363|858814|919063|963617|964282|964708|969090|970840|973101", + "upstreamId": "48499|243872|243880|415068|421603|514544|514546|535659|535661|535662|615878|615879|615880|615881|615882|615883|615884|622372|626381|805515|815985|816363|858814|919063|963617|964282|964708|969090|970840|973101", "text": "Developmental delay, intellectual disability, obesity, and dysmorphic features" }, { - "baseId": 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"text": "Vici syndrome" }, { - "baseId": "48521|48522|48523|983856", + "upstreamId": "48521|48522|48523|983856", "text": "Spermatogenic failure 11" }, { - "baseId": "48524|48525", + "upstreamId": "48524|48525", "text": "C3HEX, ability to smell" }, { - "baseId": 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"text": "Colorectal cancer 10" }, { - "baseId": 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"text": "Colorectal cancer, susceptibility to, 12" }, { - "baseId": "48560|49852|222233|241266|241269|241285|241297|241316|241326|241341|241347|241355|241362|241420|241429|241431|241482|241513|241517|244749|244752|260013|390014|398544|398641|398653|398670|398671|398767|398820|399051|399093|399255|399399|399530|399543|408585|432713|462463|462480|462793|462796|462800|476360|476956|503662|526787|526935|527136|527193|527468|537658|611105", + "upstreamId": "48560|49852|222233|241266|241269|241285|241297|241316|241326|241341|241347|241355|241362|241420|241429|241431|241482|241513|241517|244749|244752|260013|390014|398544|398641|398653|398670|398671|398767|398820|399051|399093|399255|399399|399530|399543|408585|432713|462463|462480|462793|462796|462800|476360|476956|503662|526787|526935|527136|527193|527468|537658|611105", "text": "Facial dysmorphism, immunodeficiency, livedo, and short stature" }, { - "baseId": "48564|143196|792770", + "upstreamId": "48564|143196|792770", "text": "Osteopetrosis, autosomal recessive 8" }, { - "baseId": "48565|48566|237109|420146|438876|972799", + "upstreamId": "48565|48566|237109|420146|438876|972799", "text": "Mitochondrial DNA depletion syndrome 11" }, { - "baseId": "48573|214145|214146|214147|214148|439703|439704|439705|537471|538605", + "upstreamId": "48573|214145|214146|214147|214148|439703|439704|439705|537471|538605", "text": "Charcot-Marie-Tooth disease, axonal, type 2w" }, { - "baseId": "48592", + "upstreamId": "48592", "text": "STRA6-Related Disorder" }, { - "baseId": "48595", + "upstreamId": "48595", "text": "Autism, susceptibility to, 19" }, { - "baseId": "48597|48598|375834|376706|378927|378931|445938|506849|506866|508895|508896|508897|508898|512871|512872|512961", + "upstreamId": "48597|48598|375834|376706|378927|378931|445938|506849|506866|508895|508896|508897|508898|512871|512872|512961", "text": "Left ventricular noncompaction 7" }, { - "baseId": "48599", + "upstreamId": "48599", "text": "Focal T2 hyperintense basal ganglia lesion" }, { - "baseId": "48617|208670|208672|362163|362164|446252|552224|610404|610405|626282|788938|805113|805114|971144", + "upstreamId": "48617|208670|208672|362163|362164|446252|552224|610404|610405|626282|788938|805113|805114|971144", "text": "Primary autosomal recessive microcephaly 10" }, { - "baseId": "48664", + "upstreamId": "48664", "text": "Cowden syndrome 4" }, { - "baseId": "48689|538999|539000|622371|679584", + "upstreamId": "48689|538999|539000|622371|679584", "text": "Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly" }, { - "baseId": "48690|48691|48692|237373|463957|464786|642983|652495|693635|693636|693637|703061|703063|703066|703067|730972|739453", + "upstreamId": "48690|48691|48692|237373|463957|464786|642983|652495|693635|693636|693637|703061|703063|703066|703067|730972|739453", "text": "Microphthalmia, isolated 8" }, { - "baseId": "48693|48694|48695|48696|538937|538938|654147", + "upstreamId": "48693|48694|48695|48696|538937|538938|654147", "text": "Urofacial syndrome 2" }, { - "baseId": "48698|204592|359832|578487|790972", + "upstreamId": "48698|204592|359832|578487|790972", "text": "Neuropathy, hereditary motor and sensory, Russe type" }, { - "baseId": "48727|48728|48729|51571|197755|197764|227462|227463|360976|426112|433140|445379|464936|514051|539060|573381|609338|618252|916563|919572|919574|919575|919576|919577|919578|920345", + "upstreamId": "48727|48728|48729|51571|197755|197764|227462|227463|360976|426112|433140|445379|464936|514051|539060|573381|609338|618252|916563|919572|919574|919575|919576|919577|919578|920345", "text": "Marfan lipodystrophy syndrome" }, { - "baseId": "48870|54366|312577|312600|312622|312651|312653|312687|312749|318564|318579|318580|318581|318594|318704|324719|324725|324740|324752|324767|324809|324825|325443|325467|325552|325565|325687|325690|325697|353170|480738|977246", + "upstreamId": "48870|54366|312577|312600|312622|312651|312653|312687|312749|318564|318579|318580|318581|318594|318704|324719|324725|324740|324752|324767|324809|324825|325443|325467|325552|325565|325687|325690|325697|353170|480738|977246", "text": "Noonan-like syndrome" }, { - "baseId": "48930", + "upstreamId": "48930", "text": "KRAS-related RASopathy" }, { - "baseId": "48983|360978|361092|581713|792733", + "upstreamId": "48983|360978|361092|581713|792733", "text": "Pectus excavatum" }, { - "baseId": "48983|514137|590047|590048", + "upstreamId": "48983|514137|590047|590048", "text": "Brachycephaly" }, { - "baseId": "49024|186247|361010|361013|514076|514078|514080|590084|645561|801197", + "upstreamId": "49024|186247|361010|361013|514076|514078|514080|590084|645561|801197", "text": "Cafe-au-lait spot" }, { - "baseId": "49024|203232|263246|263251|263289|263307|263367|263421|362234|514184|801159|801191|905852|905853|905854|966299|971562", + "upstreamId": "49024|203232|263246|263251|263289|263307|263367|263421|362234|514184|801159|801191|905852|905853|905854|966299|971562", "text": "Specific learning disability" }, { - "baseId": "49024|79397|205031|205755|205756|263388|263393|538627|550125|550227|553415|553417|581714|581715|610481|623598|679483|918185|918956|921254|921258|921260|965459|965500|970283|971286", + "upstreamId": "49024|79397|205031|205755|205756|263388|263393|538627|550125|550227|553415|553417|581714|581715|610481|623598|679483|918185|918956|921254|921258|921260|965459|965500|970283|971286", "text": "Intellectual disability, mild" }, { - "baseId": "49030|185546", + "upstreamId": "49030|185546", "text": "Embryonal rhabdomyosarcoma" }, { - "baseId": "49142", + "upstreamId": "49142", "text": "Abnormality of the sternum" }, { - "baseId": "49152", + "upstreamId": "49152", "text": "Abnormality of the aortic valve" }, { - "baseId": "49211", + "upstreamId": "49211", "text": "MAP2K1-Related Disorder" }, { - "baseId": "49251", + "upstreamId": "49251", "text": "MAP2K1-related RASopathy" }, { - "baseId": "49356|49357|451882", + "upstreamId": "49356|49357|451882", "text": "Emery-Dreifuss muscular dystrophy 7, autosomal dominant" }, { - "baseId": "49379|75599|167370|375408|409617|465411|466365|466368|466369|466375|466382|505381|529271|529916|530415|530416|530418|574028|644589|644590|644591|644592|644593|644594|644595|644596|652840|653133|703634|714862|714863|714864|726585|726587|726588|740128|744831|755104|770851|770855|776157|776338|779764|785259|816336|843748|843749|843750|843751|843752|843753|843754|927774|927775|927776|927777|937412|937413|937414|949367|957732|961844|961845", + "upstreamId": "49379|75599|167370|375408|409617|465411|466365|466368|466369|466375|466382|505381|529271|529916|530415|530416|530418|574028|644589|644590|644591|644592|644593|644594|644595|644596|652840|653133|703634|714862|714863|714864|726585|726587|726588|740128|744831|755104|770851|770855|776157|776338|779764|785259|816336|843748|843749|843750|843751|843752|843753|843754|927774|927775|927776|927777|937412|937413|937414|949367|957732|961844|961845", "text": "Immunodeficiency 8" }, { - "baseId": "49381|49382|463172|463174|463182|463309|527328|527331|527339|527867|565687|567033|567053|624462|641357|641358|641359|641360|641366|641367|641368|641369|641370|744912|769274|815927|840208|840209|840210|840215|840216|840217|840218|851521|926716|926717|926718|926719|936233|948135|948136|948137|956917|956920|961901", + "upstreamId": "49381|49382|463172|463174|463182|463309|527328|527331|527339|527867|565687|567033|567053|624462|641357|641358|641359|641360|641366|641367|641368|641369|641370|744912|769274|815927|840208|840209|840210|840215|840216|840217|840218|851521|926716|926717|926718|926719|936233|948135|948136|948137|956917|956920|961901", "text": "Lymphoproliferative syndrome 2" }, { - "baseId": "49388|49389", + "upstreamId": "49388|49389", "text": "Amelogenesis imperfecta, type 1E, with snow-capped teeth" }, { - "baseId": "49468|49469|237348|297853|297865|297880|297886|297893|300033|300064|300065|300077|300079|300080|304247|304262|304278|304286|304297|304301|304309|304323|304597|304640|304652|304675|329605|339854|339860|339863|339865|339867|339871|339887|339895|339904|345597|346936|346948|346960|346961|346964|353452", + "upstreamId": "49468|49469|237348|297853|297865|297880|297886|297893|300033|300064|300065|300077|300079|300080|304247|304262|304278|304286|304297|304301|304309|304323|304597|304640|304652|304675|329605|339854|339860|339863|339865|339867|339871|339887|339895|339904|345597|346936|346948|346960|346961|346964|353452", "text": "Acrodysostosis" }, { - "baseId": "49660|49660|77568|221757|231697", + "upstreamId": "49660|49660|77568|221757|231697", "text": "Charcot-Marie-Tooth disease, dominant intermediate G" }, { - "baseId": "49759|861645", + "upstreamId": "49759|861645", "text": "SPG11-related spastic paraplegia" }, { - "baseId": "49826|497248|589819|654985", + "upstreamId": "49826|497248|589819|654985", "text": "Deafness-infertility syndrome" }, { - "baseId": "49829|613906|613909|613910|613954|613992|653998|653999|800683|962876", + "upstreamId": "49829|613906|613909|613910|613954|613992|653998|653999|800683|962876", "text": "16p11.2 deletion syndrome" }, { - "baseId": "49842|207165|454710", + "upstreamId": "49842|207165|454710", "text": "Cutaneous malignant melanoma 9" }, { - "baseId": "49859|480538|480539|625868", + "upstreamId": "49859|480538|480539|625868", "text": "Microphthalmia, isolated, with coloboma 9" }, { - "baseId": "49877|453594|454044|454373|562287|651224|651281|698678|709506|744179|819503|829520|829521|829522|923621|932464", + "upstreamId": "49877|453594|454044|454373|562287|651224|651281|698678|709506|744179|819503|829520|829521|829522|923621|932464", "text": "Maple syrup urine disease, mild variant" }, { - "baseId": "49900|49922|152909|187250|237034|254152|254155|254157|254159|254160|254161|254163|361518|372380|444801|461106|461109|461112|461113|461115|461308|461310|461317|461322|461323|461326|461583|461587|461589|461600|461913|461915|526191|526199|526201|526207|526379|526380|526683|526697|564621|564624|565752|565764|567255|567258|567260|570639|570656|570662|640030|640031|640033|640040|640044|640045|640046|640048|640049|693022|693023|693024|693025|693026|693027|693028|693031|695512|695513|701756|701757|701761|724427|752667|778132|796572|820363|820364|820365|820366|838403|838404|838405|838406|838407|838408|838409|838410|838411|838412|838413|838414|838415|838416|838417|838418|838419|838420|838421|851839|852346|926226|926227|926228|926229|926230|926231|926232|926233|926234|926235|926236|926237|926238|935522|935523|935524|935525|935526|935527|935528|935529|935530|935531|935532|940995|940996|947446|947447|947448|947449|947450|947451|947452|947453|959987", + "upstreamId": "49900|49922|152909|187250|237034|254152|254155|254157|254159|254160|254161|254163|361518|372380|444801|461106|461109|461112|461113|461115|461308|461310|461317|461322|461323|461326|461583|461587|461589|461600|461913|461915|526191|526199|526201|526207|526379|526380|526683|526697|564621|564624|565752|565764|567255|567258|567260|570639|570656|570662|640030|640031|640033|640040|640044|640045|640046|640048|640049|693022|693023|693024|693025|693026|693027|693028|693031|695512|695513|701756|701757|701761|724427|752667|778132|796572|820363|820364|820365|820366|838403|838404|838405|838406|838407|838408|838409|838410|838411|838412|838413|838414|838415|838416|838417|838418|838419|838420|838421|851839|852346|926226|926227|926228|926229|926230|926231|926232|926233|926234|926235|926236|926237|926238|935522|935523|935524|935525|935526|935527|935528|935529|935530|935531|935532|940995|940996|947446|947447|947448|947449|947450|947451|947452|947453|959987", "text": "Myopathy with tubular aggregates" }, { - "baseId": "49900|49922|136636|136636|136636|152909|152909|187250|237034|237034|254152|254155|254157|254159|254160|254161|254163|361518|372380|444801|461105|461106|461109|461112|461113|461115|461115|461118|461120|461308|461310|461317|461322|461323|461326|461583|461587|461589|461591|461600|461610|461911|461913|461913|461915|526191|526197|526199|526201|526203|526207|526379|526380|526388|526683|526697|564617|564621|564624|564624|565728|565732|565739|565742|565752|565753|565754|565758|565764|567255|567256|567258|567260|567272|570635|570636|570639|570652|570656|570662|614358|640029|640030|640031|640032|640033|640034|640035|640036|640037|640038|640039|640040|640041|640042|640043|640044|640045|640046|640047|640048|640049|640050|652094|652546|693022|693023|693024|693025|693026|693027|693028|693031|695512|695513|701756|701757|701761|724427|752667|778132|796572|820363|820364|820365|820366|838403|838404|838405|838406|838407|838408|838409|838410|838411|838412|838413|838414|838415|838416|838417|838418|838419|838420|838421|851839|852346|926226|926227|926228|926229|926230|926231|926232|926233|926234|926235|926236|926237|926238|935522|935523|935524|935525|935526|935527|935528|935529|935530|935531|935532|940995|940996|947446|947447|947448|947449|947450|947451|947452|947453|959987|980467", + "upstreamId": "49900|49922|136636|136636|136636|152909|152909|187250|237034|237034|254152|254155|254157|254159|254160|254161|254163|361518|372380|444801|461105|461106|461109|461112|461113|461115|461115|461118|461120|461308|461310|461317|461322|461323|461326|461583|461587|461589|461591|461600|461610|461911|461913|461913|461915|526191|526197|526199|526201|526203|526207|526379|526380|526388|526683|526697|564617|564621|564624|564624|565728|565732|565739|565742|565752|565753|565754|565758|565764|567255|567256|567258|567260|567272|570635|570636|570639|570652|570656|570662|614358|640029|640030|640031|640032|640033|640034|640035|640036|640037|640038|640039|640040|640041|640042|640043|640044|640045|640046|640047|640048|640049|640050|652094|652546|693022|693023|693024|693025|693026|693027|693028|693031|695512|695513|701756|701757|701761|724427|752667|778132|796572|820363|820364|820365|820366|838403|838404|838405|838406|838407|838408|838409|838410|838411|838412|838413|838414|838415|838416|838417|838418|838419|838420|838421|851839|852346|926226|926227|926228|926229|926230|926231|926232|926233|926234|926235|926236|926237|926238|935522|935523|935524|935525|935526|935527|935528|935529|935530|935531|935532|940995|940996|947446|947447|947448|947449|947450|947451|947452|947453|959987|980467", "text": "Stormorken syndrome" }, { - "baseId": "49916|49917|49918|513594|798625", + "upstreamId": "49916|49917|49918|513594|798625", "text": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6" }, { - "baseId": "49919|250766|250767|440722|451384|451388|451542|451557|451743|451745|451747|451783|518508|518512|518657|560898|560900|560909|561884|630413|630414|651007|651084|691191|691192|695152|747745|819266|826912|826913|826914|826915|826916|826917|826918|826919|922900|931552|931553|931554|931555|960489", + "upstreamId": "49919|250766|250767|440722|451384|451388|451542|451557|451743|451745|451747|451783|518508|518512|518657|560898|560900|560909|561884|630413|630414|651007|651084|691191|691192|695152|747745|819266|826912|826913|826914|826915|826916|826917|826918|826919|922900|931552|931553|931554|931555|960489", "text": "Welander distal myopathy" }, { - "baseId": "49920|49921|49922|49923|136636|152909|187250|237034|461105|461115|461118|461120|461591|461610|461911|526197|526203|526388|564617|564624|565728|565732|565739|565742|565753|565754|565758|567256|567272|570635|570636|570652|614358|640029|640032|640034|640035|640036|640037|640038|640039|640041|640042|640043|640047|640050|652094|652546|980467", + "upstreamId": "49920|49921|49922|49923|136636|152909|187250|237034|461105|461115|461118|461120|461591|461610|461911|526197|526203|526388|564617|564624|565728|565732|565739|565742|565753|565754|565758|567256|567272|570635|570636|570652|614358|640029|640032|640034|640035|640036|640037|640038|640039|640041|640042|640043|640047|640050|652094|652546|980467", "text": "Myopathy, tubular aggregate, 1" }, { - "baseId": "49924|49925|49927|49928|49929|97569|434631|626075|626076|626189|980172|980173", + "upstreamId": "49924|49925|49927|49928|49929|97569|434631|626075|626076|626189|980172|980173", "text": "Spastic paraplegia 46, autosomal recessive" }, { - "baseId": "49942|49975|132751|132752|137249|137269|139428|139436|150553|150761|151642|171099|171100", + "upstreamId": "49942|49975|132751|132752|137249|137269|139428|139436|150553|150761|151642|171099|171100", "text": "Colorectal adenoma" }, { - "baseId": "49960|136497|137276|394289|482603|482654|550666|550669|550671|550676", + "upstreamId": "49960|136497|137276|394289|482603|482654|550666|550669|550671|550676", "text": "Neoplasm of the liver" }, { - "baseId": "50035|50077|50084|50085|50090|51666|94666|95079|95170|95380|95490|95574|95856|96135|96447|96518|96572|96587|96718|96735|96857|171168|171169|171170", + "upstreamId": "50035|50077|50084|50085|50090|51666|94666|95079|95170|95380|95490|95574|95856|96135|96447|96518|96572|96587|96718|96735|96857|171168|171169|171170", "text": "Colorectal cancer, non-polyposis" }, { - "baseId": "50129", + "upstreamId": "50129", "text": "Primitive neuroectodermal tumor" }, { - "baseId": "50187", + "upstreamId": "50187", "text": "Tuberous sclerosis and lymphangiomyomatosis" }, { - "baseId": "50218|50227", + "upstreamId": "50218|50227", "text": "Gastrointestinal polyposis" }, { - "baseId": "50229|50231|50232|50233|50236|50237|50239|50240|50241|138765|138767|215302|215302|221459|221463|239368|239372|239375|239390|239407|239412|239417|239420|239431|239433|239437|239439|239442|251491|251492|251493|251495|251496|251497|251499|293512|293521|293522|293526|293533|293538|293539|293544|293554|293556|293562|293567|293568|293572|293573|293576|293580|294903|294904|294927|294932|294935|294941|294942|294943|294946|294948|294963|294970|294972|294981|294984|294985|294986|294995|294997|295030|298604|298605|298606|298612|298613|298632|298634|298642|298643|298647|298650|298651|298654|298658|298659|298660|298661|298662|298663|298670|298671|298672|298673|298674|298675|298691|298699|298700|353670|393992|394406|394415|394441|394452|394454|520014|520342|691579|807745|890731|890732|890733|890734|890735|890736|890737|890738|890739|890740|890741|890742|890743|890744|890745|890746|890747|890748|890749|890750|890751|890752|890753|890754|890755|890756|890757|890758|890759|890760|891799|918897", + "upstreamId": "50229|50231|50232|50233|50236|50237|50239|50240|50241|138765|138767|215302|215302|221459|221463|239368|239372|239375|239390|239407|239412|239417|239420|239431|239433|239437|239439|239442|251491|251492|251493|251495|251496|251497|251499|293512|293521|293522|293526|293533|293538|293539|293544|293554|293556|293562|293567|293568|293572|293573|293576|293580|294903|294904|294927|294932|294935|294941|294942|294943|294946|294948|294963|294970|294972|294981|294984|294985|294986|294995|294997|295030|298604|298605|298606|298612|298613|298632|298634|298642|298643|298647|298650|298651|298654|298658|298659|298660|298661|298662|298663|298670|298671|298672|298673|298674|298675|298691|298699|298700|353670|393992|394406|394415|394441|394452|394454|520014|520342|691579|807745|890731|890732|890733|890734|890735|890736|890737|890738|890739|890740|890741|890742|890743|890744|890745|890746|890747|890748|890749|890750|890751|890752|890753|890754|890755|890756|890757|890758|890759|890760|891799|918897", "text": "Idiopathic hypereosinophilic syndrome" }, { - "baseId": "50278|180168|239803", + "upstreamId": "50278|180168|239803", "text": "B Lymphoblastic Leukemia/Lymphoma with Hypodiploidy" }, { - "baseId": "50295", + "upstreamId": "50295", "text": "Birt-Hogg-Dub syndrome" }, { - "baseId": "50318|983770", + "upstreamId": "50318|983770", "text": "Mitochondrial complex III deficiency, nuclear type 5" }, { - "baseId": "51080|51081|51082|51083|51084|209072|209073|209075|209076|209077|215663|225806|227711|243898|260331|265026|265165|267206|275125|362749|378376|411396|422489|425236|446686|471614|471616|471898|471899|472163|481507|481508|486482|508588|514280|534835|534894|535015|535016|535022|535025|535360|536192|572515|572522|572523|573896|574745|574746|574749|578594|611452|611949|614508|622945|623593|650096|650097|650098|650099|650100|650101|653458|653464|653526|653535|653717|654153|672119|677472|706254|729629|774092|786856|786857|789702|792467|792468|792469|792470|802052|821510|822227|850117|850118|850119|850120|850121|850122|852521|860890|920034|929758|929759|929760|939617|939618|939619|940564|941311|951817|951818|951819|951820|963983|964616|964617|964618|964905|971209", + "upstreamId": "51080|51081|51082|51083|51084|209072|209073|209075|209076|209077|215663|225806|227711|243898|260331|265026|265165|267206|275125|362749|378376|411396|422489|425236|446686|471614|471616|471898|471899|472163|481507|481508|486482|508588|514280|534835|534894|535015|535016|535022|535025|535360|536192|572515|572522|572523|573896|574745|574746|574749|578594|611452|611949|614508|622945|623593|650096|650097|650098|650099|650100|650101|653458|653464|653526|653535|653717|654153|672119|677472|706254|729629|774092|786856|786857|789702|792467|792468|792469|792470|802052|821510|822227|850117|850118|850119|850120|850121|850122|852521|860890|920034|929758|929759|929760|939617|939618|939619|940564|941311|951817|951818|951819|951820|963983|964616|964617|964618|964905|971209", "text": "Neurodegeneration with brain iron accumulation 5" }, { - "baseId": "51085|51086|206561|253860", + "upstreamId": "51085|51086|206561|253860", "text": "Albinism, oculocutaneous, type VII" }, { - "baseId": "51095|53399|53400|53401|53406|178210|312347|312350|318236|324369|325066|565481|798995|867042|867043", + "upstreamId": "51095|53399|53400|53401|53406|178210|312347|312350|318236|324369|325066|565481|798995|867042|867043", "text": "Fatal infantile hypertonic myofibrillar myopathy" }, { - "baseId": "51095|56353|56430|56605|141530|177535|179133|188393|189935|196672|296809|301509|400363|497171|679364|679412", + "upstreamId": "51095|56353|56430|56605|141530|177535|179133|188393|189935|196672|296809|301509|400363|497171|679364|679412", "text": "Congestive heart failure" }, { - "baseId": "51100|51101|51102|51103|51104|51105|136728|136730|206771|249771|249772|364758|364760|364766|364776|364944|364947|364956|364958|364970|364979|405086|425344|442743|442744|447555|447569|447571|447717|447719|447725|447729|447800|447802|447806|447813|447814|447858|498413|498480|511249|514886|515512|515513|515568|515581|515583|515634|552041|556490|557122|557125|557128|557130|557179|557181|558361|558363|622859|627436|627437|627438|627439|627440|627441|627442|627443|627444|627445|627446|650515|650625|690516|758888|774473|789943|789944|818817|818934|823533|823534|823535|823536|823537|823538|823539|823540|823541|823542|823543|823544|823545|823546|823547|850753|921868|921869|930349|930350|930351|930352|930353|930354|930355|941782|952308|959545|960422", + "upstreamId": "51100|51101|51102|51103|51104|51105|136728|136730|206771|249771|249772|364758|364760|364766|364776|364944|364947|364956|364958|364970|364979|405086|425344|442743|442744|447555|447569|447571|447717|447719|447725|447729|447800|447802|447806|447813|447814|447858|498413|498480|511249|514886|515512|515513|515568|515581|515583|515634|552041|556490|557122|557125|557128|557130|557179|557181|558361|558363|622859|627436|627437|627438|627439|627440|627441|627442|627443|627444|627445|627446|650515|650625|690516|758888|774473|789943|789944|818817|818934|823533|823534|823535|823536|823537|823538|823539|823540|823541|823542|823543|823544|823545|823546|823547|850753|921868|921869|930349|930350|930351|930352|930353|930354|930355|941782|952308|959545|960422", "text": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11" }, { - "baseId": "51106|51107|221371|239118|393372|393433|393435|393436|393625|393809|451799|452192|452196|452204|452206|452308|452430|481390|518978|518991|519175|519180|519191|558850|558852|559387|559389|559391|561276|561278|561280|562587|562589|608986|631063|631064|631065|631066|631067|631068|631069|683568|686370|686371|686372|819355|827730|827731|827732|827733|827734|827735|827736|827737|827738|827739|827740|827741|827742|827743|923102|931844|931845|931846|940742|940743|943427", + "upstreamId": "51106|51107|221371|239118|393372|393433|393435|393436|393625|393809|451799|452192|452196|452204|452206|452308|452430|481390|518978|518991|519175|519180|519191|558850|558852|559387|559389|559391|561276|561278|561280|562587|562589|608986|631063|631064|631065|631066|631067|631068|631069|683568|686370|686371|686372|819355|827730|827731|827732|827733|827734|827735|827736|827737|827738|827739|827740|827741|827742|827743|923102|931844|931845|931846|940742|940743|943427", "text": "Charcot-Marie-Tooth disease, dominant intermediate F" }, { - "baseId": "51108|51109|165610|207992|207994|207996|243991|429447|462458|463188|463312|463319|527347|527349|527362|527868|527870|564991|565710|565712|565713|565715|565717|567055|567056|572005|611776|641372|641373|641374|641375|641376|641377|641378|641379|641380|652162|652338|702493|702494|725258|738853|769299|784465|791273|820437|840235|840236|840237|840238|840239|840240|840241|840242|840243|840244|840245|926725|926726|926727|936245|936246|936247|936248|936249|936250|936251|948144|948145|956927|956928|956929", + "upstreamId": "51108|51109|165610|207992|207994|207996|243991|429447|462458|463188|463312|463319|527347|527349|527362|527868|527870|564991|565710|565712|565713|565715|565717|567055|567056|572005|611776|641372|641373|641374|641375|641376|641377|641378|641379|641380|652162|652338|702493|702494|725258|738853|769299|784465|791273|820437|840235|840236|840237|840238|840239|840240|840241|840242|840243|840244|840245|926725|926726|926727|936245|936246|936247|936248|936249|936250|936251|948144|948145|956927|956928|956929", "text": "Temtamy syndrome" }, { - "baseId": "51108|432205|432206|432209|432210", + "upstreamId": "51108|432205|432206|432209|432210", "text": "Abnormality of the corpus callosum" }, { - "baseId": "51108", + "upstreamId": "51108", "text": "Colobomatous microphthalmia" }, { - "baseId": "51151|51152|450279|450280|450440|560756", + "upstreamId": "51151|51152|450279|450280|450440|560756", "text": "Cataract 39, multiple types" }, { - "baseId": "51182|51183|227502|227503|513290|552112|552113|919069|919070|961650|965967", + "upstreamId": "51182|51183|227502|227503|513290|552112|552113|919069|919070|961650|965967", "text": "Lissencephaly 5" }, { - "baseId": "51184|167412|205231|211767|243561|265656|265814|285543|288937|288967|288979|303125|303165|303174|309751|309760|311435|315004|315130|321064|322568|326827|332008|332014|332017|332035|336688|336694|338642|338986|340575|342933|344540|350562|350570|350576", + "upstreamId": "51184|167412|205231|211767|243561|265656|265814|285543|288937|288967|288979|303125|303165|303174|309751|309760|311435|315004|315130|321064|322568|326827|332008|332014|332017|332035|336688|336694|338642|338986|340575|342933|344540|350562|350570|350576", "text": "Spastic Paraplegia, Recessive" }, { - "baseId": "51184|402131", + "upstreamId": "51184|402131", "text": "Cerebral cortical atrophy" }, { - "baseId": "51184|59852|193488|327447|333616|488122|488126|488170|488177|488178|488179|488180|512780|800923|800924", + "upstreamId": "51184|59852|193488|327447|333616|488122|488126|488170|488177|488178|488179|488180|512780|800923|800924", "text": "Optic nerve hypoplasia" }, { - "baseId": "51184|360920|551420|577714|613539", + "upstreamId": "51184|360920|551420|577714|613539", "text": "Spastic ataxia" }, { - "baseId": 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"text": "Dyskeratosis congenita, autosomal recessive, 5" }, { - "baseId": 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"text": "Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3" }, { - "baseId": "51193|51194|51195|51196|51197|51198|508727|615559|654100|654103|654104|654105|654106|654107|654108|654109|654110", + "upstreamId": "51193|51194|51195|51196|51197|51198|508727|615559|654100|654103|654104|654105|654106|654107|654108|654109|654110", "text": "Platelet-type bleeding disorder 15" }, { - "baseId": 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"51200|98568|251489|266485|267097|267280|268739|269058|269397|270198|272523|293475|293476|293478|293479|293480|293486|293491|293493|293494|293499|293507|293508|294872|294875|294888|294889|294890|294899|294900|294902|298547|298552|298560|298561|298564|298568|298569|298571|298572|298573|298574|298581|298585|298586|298590|298594|298599|298600|298618|298620|298621|298630|369115|490406|500997|563765|698542|748960|890699|890700|890701|890702|890703|890704|890705|890706|890707|890708|890709|890710|890711|890712|890713|890714|890715|890716|890717|890718|890719|890720|890721|890722|890723|890724|890725|890726|890727|890728|890729|890730", "text": "Qualitative or quantitative defects of beta-sarcoglycan" }, { - "baseId": "51215|256610|256611|256612|256613|256614|256615|256617|268010|269481|274819|330874|330878|330881|330882|330883|330892|330907|330910|330913|330915|330916|330917|330921|330923|330927|330928|330930|330931|330936|341171|341173|341180|341182|341183|341185|341192|341197|341198|341200|341201|341206|341207|341209|341211|341213|341215|346709|346712|346713|346716|346721|346727|346728|346734|346735|346737|346738|346747|346749|346750|346751|346752|347984|347985|347986|347990|347995|347999|348001|348014|348017|348019|348020|348028|348030|348036|348040|445947|548665|715911|727663|727664|727665|741319|741321|741323|741324|756407|785857|878995|878996|878997|878998|878999|879000|879001|879002|879003|879004|879005|879006|879007|879008|879009|879010|879011|879012|879013|879014|879015|879016|879017|879018|879019|879020|879021|879022|879023|879024|879025|879026|879027|879028|880639|880640|880641", + "upstreamId": "51215|256610|256611|256612|256613|256614|256615|256617|268010|269481|274819|330874|330878|330881|330882|330883|330892|330907|330910|330913|330915|330916|330917|330921|330923|330927|330928|330930|330931|330936|341171|341173|341180|341182|341183|341185|341192|341197|341198|341200|341201|341206|341207|341209|341211|341213|341215|346709|346712|346713|346716|346721|346727|346728|346734|346735|346737|346738|346747|346749|346750|346751|346752|347984|347985|347986|347990|347995|347999|348001|348014|348017|348019|348020|348028|348030|348036|348040|445947|548665|715911|727663|727664|727665|741319|741321|741323|741324|756407|785857|878995|878996|878997|878998|878999|879000|879001|879002|879003|879004|879005|879006|879007|879008|879009|879010|879011|879012|879013|879014|879015|879016|879017|879018|879019|879020|879021|879022|879023|879024|879025|879026|879027|879028|880639|880640|880641", "text": "Laryngo-onycho-cutaneous syndrome" }, { - "baseId": "51273|226148|540439|918616|920140", + "upstreamId": "51273|226148|540439|918616|920140", "text": "Myopathy, scapulohumeroperoneal" }, { - "baseId": "51363|51364|51365|51366|51367|51368|677322", + "upstreamId": "51363|51364|51365|51366|51367|51368|677322", "text": "Combined d-2- and l-2-hydroxyglutaric aciduria" }, { - "baseId": "51369|51370|226952|226953|226953|247115|390111|465591|466309|466311|466580|466583|529863|529864|529866|529869|529878|529882|529960|529962|529966|529967|530202|530397|568040|570050|570062|570067|614421|625911|644513|644514|644515|644516|644517|644518|644519|644520|644521|644522|644523|644524|644525|644526|644527|644528|644529|714820|726521|740048|740049|740050|740051|755049|770804|770806|770807|770813|785237|785238|785239|788045|843671|843672|843673|843674|843675|843676|843677|843678|843679|843680|843681|843682|843683|843684|843685|843686|843687|843688|843689|843690|927750|927751|927752|927753|927754|927755|927756|937393|937394|937395|937396|949336|949337|949338|949339|949340|949341|949342|949343|949344|957716|961967|964448", + "upstreamId": "51369|51370|226952|226953|226953|247115|390111|465591|466309|466311|466580|466583|529863|529864|529866|529869|529878|529882|529960|529962|529966|529967|530202|530397|568040|570050|570062|570067|614421|625911|644513|644514|644515|644516|644517|644518|644519|644520|644521|644522|644523|644524|644525|644526|644527|644528|644529|714820|726521|740048|740049|740050|740051|755049|770804|770806|770807|770813|785237|785238|785239|788045|843671|843672|843673|843674|843675|843676|843677|843678|843679|843680|843681|843682|843683|843684|843685|843686|843687|843688|843689|843690|927750|927751|927752|927753|927754|927755|927756|937393|937394|937395|937396|949336|949337|949338|949339|949340|949341|949342|949343|949344|957716|961967|964448", "text": "IL21R immunodeficiency" }, { - "baseId": "51396", + "upstreamId": "51396", "text": "Deafness, sensorineural, with neurologic features" }, { - "baseId": "51429|51431|51440|143093|339057|348271|352158|352159|352160|352795|352796|352797|446585|902885|902886|902887|902888|902889|902890|902891|903462", + "upstreamId": "51429|51431|51440|143093|339057|348271|352158|352159|352160|352795|352796|352797|446585|902885|902886|902887|902888|902889|902890|902891|903462", "text": "Endocardial fibroelastosis" }, { - "baseId": "51515|193009|672095", + "upstreamId": "51515|193009|672095", "text": "FBN1-Related Disorders" }, { - "baseId": "51634|177172|178306|214012|214013|214014|214015|214016|214017|214018|214019|214020|214021|214022|214023|214024|214025|214026|214027|214028|214029|214030|214031|214032|214033|214034|214035|214036|214037|214038|214039|214040|214041|214042|214043|214044|214045|214046|214047|214048|214049|214050|214051|214052|214053|214054", + "upstreamId": "51634|177172|178306|214012|214013|214014|214015|214016|214017|214018|214019|214020|214021|214022|214023|214024|214025|214026|214027|214028|214029|214030|214031|214032|214033|214034|214035|214036|214037|214038|214039|214040|214041|214042|214043|214044|214045|214046|214047|214048|214049|214050|214051|214052|214053|214054", "text": "Deoxygalactonojirimycin response" }, { - "baseId": "51643|51644|51645|51646|51647|51648|51650|51651|51652|51653|141298|152780|152781|210309|210310|210324|210334|210341|257314|257316|257324|259048|269659|271031|271733|273271|273422|273773|334790|334791|334796|334797|334800|334804|334808|334812|334813|334815|334819|334821|334822|344656|344669|344671|344672|344673|344674|344677|344685|344686|344688|344690|344692|344693|344701|344702|349635|349640|349645|349648|349651|349654|349655|349657|349658|349662|349667|349670|349672|349674|349678|349679|349681|350650|350651|350653|350654|350657|350659|350661|350663|350665|350668|350669|350671|350673|350674|350676|350677|350678|350680|350683|353581|491938|492576|493267|508047|533476|585063|585130|586838|587022|587857|589584|589729|684863|684864|689184|885797|885798|885799|885800|885801|885802|885803|885804|885805|885806|885807|885808|885809|885810|885811|885812|885813|885814|885815|885816|885817|885818|885819|885820|885821|885822|885823|885824|885825|885826|885827|885828|887424|887425|887426|887427", + "upstreamId": "51643|51644|51645|51646|51647|51648|51650|51651|51652|51653|141298|152780|152781|210309|210310|210324|210334|210341|257314|257316|257324|259048|269659|271031|271733|273271|273422|273773|334790|334791|334796|334797|334800|334804|334808|334812|334813|334815|334819|334821|334822|344656|344669|344671|344672|344673|344674|344677|344685|344686|344688|344690|344692|344693|344701|344702|349635|349640|349645|349648|349651|349654|349655|349657|349658|349662|349667|349670|349672|349674|349678|349679|349681|350650|350651|350653|350654|350657|350659|350661|350663|350665|350668|350669|350671|350673|350674|350676|350677|350678|350680|350683|353581|491938|492576|493267|508047|533476|585063|585130|586838|587022|587857|589584|589729|684863|684864|689184|885797|885798|885799|885800|885801|885802|885803|885804|885805|885806|885807|885808|885809|885810|885811|885812|885813|885814|885815|885816|885817|885818|885819|885820|885821|885822|885823|885824|885825|885826|885827|885828|887424|887425|887426|887427", "text": "Isolated Nonsyndromic Congenital Heart Disease" }, { - "baseId": "51661|54552|67638|77926|141708|225795|259021|276309|276310|276314|276317|276536|276945|276976|277085|313787|313794|313799|313800|313812|313813|313817|316673|316678|319980|319984|319986|319987|319988|320021|320022|320025|324153|326169|326170|326178|326190|326206|326214|327120|327127|327130|329620|329636|329643|329650|329654|329660|329663|329672|329675|330167|330174|339908|339921|339927|339929|339930|345653|345672|345676|345677|347000|347021|347026|350563|353057|353058|353249|481127", + "upstreamId": "51661|54552|67638|77926|141708|225795|259021|276309|276310|276314|276317|276536|276945|276976|277085|313787|313794|313799|313800|313812|313813|313817|316673|316678|319980|319984|319986|319987|319988|320021|320022|320025|324153|326169|326170|326178|326190|326206|326214|327120|327127|327130|329620|329636|329643|329650|329654|329660|329663|329672|329675|330167|330174|339908|339921|339927|339929|339930|345653|345672|345676|345677|347000|347021|347026|350563|353057|353058|353249|481127", "text": "Familial atrial fibrillation" }, { - "baseId": "51710|51755|171133|174776|179192", + "upstreamId": "51710|51755|171133|174776|179192", "text": "MYBPC3-Related Disorders" }, { - "baseId": "51720|54894|54903|172501|179136|302201|302204|302207|302210|302214|302217|302218|302225|305395|305441|305446|305448|305449|305450|305452|310209|310230|310235|310322|310359|442590", + "upstreamId": "51720|54894|54903|172501|179136|302201|302204|302207|302210|302214|302217|302218|302225|305395|305441|305446|305448|305449|305450|305452|310209|310230|310235|310322|310359|442590", "text": "Wolff-Parkinson-White syndrome" }, { - "baseId": "51796|51841|224525|858248", + "upstreamId": "51796|51841|224525|858248", "text": "Paroxysmal atrial fibrillation" }, { - "baseId": "51983|53540|54200|56467|56533|57079|240750|552686|679394", + "upstreamId": "51983|53540|54200|56467|56533|57079|240750|552686|679394", "text": "Premature ventricular contraction" }, { - "baseId": "52056|52082|136656|136657|136658|136659|136660|136661|136662|136663|136664|136665|136666|136667|136668|136669|136670|136671|136672|136673|136674|136675|136676|136677|136678|136679|136680|136681|136682|136683|136684|136685|136686|136687|171746|171747|198165", + "upstreamId": "52056|52082|136656|136657|136658|136659|136660|136661|136662|136663|136664|136665|136666|136667|136668|136669|136670|136671|136672|136673|136674|136675|136676|136677|136678|136679|136680|136681|136682|136683|136684|136685|136686|136687|171746|171747|198165", "text": "Familial cardiomyopathy" }, { - "baseId": "52101|52119|179712|186460|189951|224471|320364|320376|320380|328973|328987|328990|335627|335628|335649|337484|353295", + "upstreamId": "52101|52119|179712|186460|189951|224471|320364|320376|320380|328973|328987|328990|335627|335628|335649|337484|353295", "text": "Scapuloperoneal myopathy" }, { - "baseId": "52138|550125", + "upstreamId": "52138|550125", "text": "Ebstein anomaly of the tricuspid valve" }, { - "baseId": "52162|52199|175456|179576|328979|464003|622423|622424|626226", + "upstreamId": "52162|52199|175456|179576|328979|464003|622423|622424|626226", "text": "MYH7-Related Disorders" }, { - "baseId": "52388|52400|52458|52469|52470|52499|175522|176880|178187|231427|546607|620421|620422|620837", + "upstreamId": "52388|52400|52458|52469|52470|52499|175522|176880|178187|231427|546607|620421|620422|620837", "text": "MYO7A-Related Disorders" }, { - "baseId": "52751|52754|53059|176596|209906|209931|209933|209941|303340|303342|303359|306689|306717|306729|306752|306756|311559|311572|311575|311577|311596|311730", + "upstreamId": "52751|52754|53059|176596|209906|209931|209933|209941|303340|303342|303359|306689|306717|306729|306752|306756|311559|311572|311575|311577|311596|311730", "text": "Cutis laxa, autosomal dominant" }, { - "baseId": "52776|52778|52780|174084|174266|229605|276776|276786|276789|277042|277056|277061|277062|277074|277618|277644|277648|277682|277773|295695|296825|297461|301338|301342|301378|301380|301529|302594|302601|302624|302626|302958|303467|303469|303470|305956|305958|306872|306885|306886|310679|310696|311719|311744|311745|311765|311776|311777|311802|311804|311807|311808|353811|353820", + "upstreamId": "52776|52778|52780|174084|174266|229605|276776|276786|276789|277042|277056|277061|277062|277074|277618|277644|277648|277682|277773|295695|296825|297461|301338|301342|301378|301380|301529|302594|302601|302624|302626|302958|303467|303469|303470|305956|305958|306872|306885|306886|310679|310696|311719|311744|311745|311765|311776|311777|311802|311804|311807|311808|353811|353820", "text": "Nonsyndromic Hearing Loss, Mixed" }, { - "baseId": "52836", + "upstreamId": "52836", "text": "TNNT2-Related Cardiomyopathy" }, { - "baseId": "52844|55764|56038|56684|56803|56978|78464|173316|173342|188401|189319|198532", + "upstreamId": "52844|55764|56038|56684|56803|56978|78464|173316|173342|188401|189319|198532", "text": "Supraventricular tachycardia" }, { - "baseId": "52998|54768", + "upstreamId": "52998|54768", "text": "Dilated cardiomyopathy with left ventricular noncompaction" }, { - "baseId": "53080|172928|187391|187393|187394", + "upstreamId": "53080|172928|187391|187393|187394", "text": "Familial hypertrophic cardiomyopathy 23" }, { - "baseId": "53186|56440|78495", + "upstreamId": "53186|56440|78495", "text": "Familial dilated cardiomyopathy and peripheral neuropathy" }, { - "baseId": "53320|53321|53325|53327|176924|178142|181536|185765|248693|248694|248695|248696|248697|248698|248699|275973|275974|275979|275984|275985|275990|275991|275992|275993|276005|276006|276011|276018|276019|276020|276023|276024|276029|276030|276031|276037|276052|276053|276056|276186|276188|276189|276198|276199|276201|276202|276204|276205|276221|276222|276230|276231|276234|276235|276236|276237|276244|276246|276247|276248|276249|276251|276252|276254|276255|276256|276257|276261|276262|276263|276264|276266|276271|276272|276308|276316|276323|276330|276331|276335|276336|276337|276339|276345|276364|276379|276383|276384|276385|276388|276393|276394|276395|276396|276397|276398|276406|276408|276409|276410|276434|276435|276437|276446|276447|276450|276453|276454|276457|276458|276459|276460|276461|276462|276463|276478|276479|276480|276483|276489|276491|276492|276493|276494|276503|276508|276513|276517|276524|276525|276526|276527|276533|276537|276549|276563|276564|276578|353050|438861|439303|509057|509058|509059|509060|614554|682205|682206|682207|682208|682324|682325|682326|682345|696006|706602|718118|731600|731602|789823|789824|857416|857417|857418|857419|857420|862015|862016|862017|862018|862019|862020|862021|862022|862023|862024|862025|862026|862027|862028|862029|862030|862031|862032|862033|862034|862035|862036|862037|862038|862039|862040|862041|862042|862043|862044|862045|862046|862047|862048|862049|862050|862051|862052|862053|862054|862055|862056|862057|862058|862059|862060|862061|862062|862063|862064|862065|862066|862067|862068|862069|862070|862071|862072|862073|862074|862075|862076|862077", + "upstreamId": "53320|53321|53325|53327|176924|178142|181536|185765|248693|248694|248695|248696|248697|248698|248699|275973|275974|275979|275984|275985|275990|275991|275992|275993|276005|276006|276011|276018|276019|276020|276023|276024|276029|276030|276031|276037|276052|276053|276056|276186|276188|276189|276198|276199|276201|276202|276204|276205|276221|276222|276230|276231|276234|276235|276236|276237|276244|276246|276247|276248|276249|276251|276252|276254|276255|276256|276257|276261|276262|276263|276264|276266|276271|276272|276308|276316|276323|276330|276331|276335|276336|276337|276339|276345|276364|276379|276383|276384|276385|276388|276393|276394|276395|276396|276397|276398|276406|276408|276409|276410|276434|276435|276437|276446|276447|276450|276453|276454|276457|276458|276459|276460|276461|276462|276463|276478|276479|276480|276483|276489|276491|276492|276493|276494|276503|276508|276513|276517|276524|276525|276526|276527|276533|276537|276549|276563|276564|276578|353050|438861|439303|509057|509058|509059|509060|614554|682205|682206|682207|682208|682324|682325|682326|682345|696006|706602|718118|731600|731602|789823|789824|857416|857417|857418|857419|857420|862015|862016|862017|862018|862019|862020|862021|862022|862023|862024|862025|862026|862027|862028|862029|862030|862031|862032|862033|862034|862035|862036|862037|862038|862039|862040|862041|862042|862043|862044|862045|862046|862047|862048|862049|862050|862051|862052|862053|862054|862055|862056|862057|862058|862059|862060|862061|862062|862063|862064|862065|862066|862067|862068|862069|862070|862071|862072|862073|862074|862075|862076|862077", "text": "Neural tube defect" }, { - "baseId": "53320|53321|53325|53327|275991|276029|276056|276188|276237|276249|276254|276255|276264|276266|276271|276272|276308|276330|276345|276410|276434|276459|276513|276524|276578|353050", + "upstreamId": "53320|53321|53325|53327|275991|276029|276056|276188|276237|276249|276254|276255|276264|276266|276271|276272|276308|276330|276345|276410|276434|276459|276513|276524|276578|353050", "text": "Caudal dysgenesis syndrome" }, { - "baseId": "53386", + "upstreamId": "53386", "text": "ACTA2-Related Disorders" }, { - "baseId": "53440|284793|353560", + "upstreamId": "53440|284793|353560", "text": "Scapuloperoneal weakness" }, { - "baseId": 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+ "upstreamId": "53506|53508|53509|53510|53513|53514|53515|53516|53517|53521|53523|53524|53527|53528|53532|53533|53534|53535|53537|53538|53540|53541|53542|53543|53544|53545|53546|53547|53548|53549|53550|53551|53552|53553|53554|53556|53560|53562|53563|53564|53565|53566|53567|53568|53569|53570|53571|53572|53573|53574|53575|53577|53578|53579|53580|59492|59493|141769|176848|176849|176853|176856|176858|178202|178203|178204|178217|178219|178221|178222|178223|178224|178225|178226|178227|178228|178229|178259|178545|178547|189788|189790|189798|189801|189805|191535|194052|209864|209865|209867|209870|209873|209878|209879|209882|209884|209886|209890|209891|209896|209898|209900|209903|224309|224311|226789|231310|231354|231358|231362|231363|231410|231411|231414|231415|239871|239873|239874|258424|258435|368291|368657|370076|395019|395020|395023|395024|395027|395187|395193|395358|395360|395364|395645|395648|395649|395651|406791|415018|425655|425656|443846|443850|443852|455155|455157|455291|455298|455781|455798|455799|456035|456038|456039|456042|481127|497905|501079|501082|501338|508810|508811|508812|508813|508814|508815|509765|509767|509771|509774|509776|509778|521306|521313|521317|521320|521328|521334|521607|521609|521613|521615|521687|521689|521691|521693|521696|521945|521947|521950|521951|521954|521955|521957|560538|560540|560542|560544|563321|563323|565321|565328|565336|565340|609612|623083|626154|634496|634497|634498|634499|634500|634501|634502|634503|634504|634505|634506|634507|634508|634509|634510|634511|651576|683754|686782|686784|691899|765438|765440|799434|819642|831421|831422|831423|831424|831425|831426|831427|831428|831429|831430|831431|831432|831433|831434|831435|831436|831437|831438|831439|831440|831441|831442|831443|831444|831445|831446|831447|831448|831449|831450|831451|831452|831453|920219|920220|924223|924224|924225|924226|924227|933128|933129|933130|933131|933132|933133|933134|933135|933136|933137|933138|933139|933140|940026|940027|940831|940832|944854|944855|944856|944857|944858|944859|944860|954326|954327|954328|954329|954330|981514", "text": "Dilated cardiomyopathy 1JJ" }, { - "baseId": "53814|244523|268997|272211|277216|277906|278016|280737|282123|282137|282192|305882|309947|315140|315160|315209|315217|315221|315300|342546|342554|353066", + "upstreamId": "53814|244523|268997|272211|277216|277906|278016|280737|282123|282137|282192|305882|309947|315140|315160|315209|315217|315221|315300|342546|342554|353066", "text": "Charcot-Marie-Tooth, Intermediate" }, { - "baseId": "53818|171083|171185|540614|540615", + "upstreamId": "53818|171083|171185|540614|540615", "text": "Congenital aneurysm of ascending aorta" }, { - "baseId": "53818", + "upstreamId": "53818", "text": "Dilatation of the thoracic aorta" }, { - "baseId": "53818", + "upstreamId": "53818", "text": "Thoracic aortic dissection" }, { - "baseId": "54023", + "upstreamId": "54023", "text": "DSP-related arrhythmogenic cardiomyopathy" }, { - "baseId": "54098|77203|171102|360852|360853|513891|513948", + "upstreamId": "54098|77203|171102|360852|360853|513891|513948", "text": "Palmoplantar blistering" }, { - "baseId": "54098|77203|171102|513948", + "upstreamId": "54098|77203|171102|513948", "text": "Skin fragility with non-scarring blistering" }, { - "baseId": "54106|189307|189921|306649|310846|310847|316366|316595|316596|316597|316605|316606|316607|567976", + "upstreamId": "54106|189307|189921|306649|310846|310847|316366|316595|316596|316597|316605|316606|316607|567976", "text": "Amyloidosis" }, { - "baseId": "54134|167520|167521|167522|173858|359032|359033|359034", + "upstreamId": "54134|167520|167521|167522|173858|359032|359033|359034", "text": "Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis" }, { - "baseId": "54202|679379", + "upstreamId": "54202|679379", "text": "Family history of cardiomyopathy" }, { - "baseId": "54291", + "upstreamId": "54291", "text": "cetuximab response - Dosage" }, { - "baseId": "54291", + "upstreamId": "54291", "text": "panitumumab response - Dosage" }, { - "baseId": "54381|54382|54383|81088|173573|173574|173578|173709|173712|173714|173715|173718|181418|191802|214405|214406|229286|229290|229293|229294|229295|270875|295686|297502|297513|301380|301553|301554|301561|301578|438303|443695|454665|454670|454672|454746|454761|454764|455210|455215|455217|455226|455233|455477|455489|455498|455512|496385|496801|513276|520821|520822|520827|520836|521067|521070|521087|521216|521222|521223|521225|521229|521231|521233|521269|521271|521279|521285|538984|560175|560177|560284|560286|560288|560290|560292|562894|562898|562901|564862|564863|564864|564865|564870|584463|614130|633524|633525|633526|633527|633528|633529|633530|633531|633532|633533|633534|633535|633536|633537|633538|633539|633540|633541|633542|633543|698878|709681|721262|749277|749278|764930|764931|775018|777433|779083|782193|789116|801810|819562|830402|830403|830404|830405|830406|830407|830408|830409|830410|830411|830412|830413|830414|830415|830416|830417|830418|830419|830420|830421|893131|923904|923905|923906|923907|923908|923909|923910|923911|923912|923913|923914|923915|932748|932749|932750|932751|932752|944433|944434|944435|944436|944437|944439|944440|954062|954063|954064|954065|954066|954067", + "upstreamId": "54381|54382|54383|81088|173573|173574|173578|173709|173712|173714|173715|173718|181418|191802|214405|214406|229286|229290|229293|229294|229295|270875|295686|297502|297513|301380|301553|301554|301561|301578|438303|443695|454665|454670|454672|454746|454761|454764|455210|455215|455217|455226|455233|455477|455489|455498|455512|496385|496801|513276|520821|520822|520827|520836|521067|521070|521087|521216|521222|521223|521225|521229|521231|521233|521269|521271|521279|521285|538984|560175|560177|560284|560286|560288|560290|560292|562894|562898|562901|564862|564863|564864|564865|564870|584463|614130|633524|633525|633526|633527|633528|633529|633530|633531|633532|633533|633534|633535|633536|633537|633538|633539|633540|633541|633542|633543|698878|709681|721262|749277|749278|764930|764931|775018|777433|779083|782193|789116|801810|819562|830402|830403|830404|830405|830406|830407|830408|830409|830410|830411|830412|830413|830414|830415|830416|830417|830418|830419|830420|830421|893131|923904|923905|923906|923907|923908|923909|923910|923911|923912|923913|923914|923915|932748|932749|932750|932751|932752|944433|944434|944435|944436|944437|944439|944440|954062|954063|954064|954065|954066|954067", "text": "Seizures, cortical blindness, and microcephaly syndrome" }, { - "baseId": "54481|54482|54484|54486|54489|54490|54491|54492|54496|54497|54498|54499|54501|54502|54503|54505|54506|54507|54508|54509|89105|175072|175073|175074|175075|175076|175081|175082|175082|175083|175086|175090|175091|175348|175351|175352|175354|175359|175361|175366|229977|229980|229983|229990|229993|229994|229999|230001|230004|237610|273542|312810|312811|312812|312818|312829|312830|312835|312839|312841|312846|312851|312852|312853|312857|318828|318835|318836|318859|318870|318882|318883|318889|318898|324933|324943|324948|324959|324960|324961|324966|324969|324970|324971|324978|324982|324992|325005|325006|325011|325783|325803|325813|325818|325819|325820|325823|325828|325856|325862|325864|325867|325869|325870|325874|325878|389239|389963|404795|421833|489962|493527|553262|553263|553264|610568|615812|654629|654630|654637|752490|802076|805095|859843|867348|867349|867350|867351|867352|867353|867354|867355|867356|867357|867358|867359|867360|867361|867362|867363|867364|867365|867366|867367|867368|867369|867370|867371|867372|867373|867374|867375|867376|867377|867378|867379", + "upstreamId": "54481|54482|54484|54486|54489|54490|54491|54492|54496|54497|54498|54499|54501|54502|54503|54505|54506|54507|54508|54509|89105|175072|175073|175074|175075|175076|175081|175082|175082|175083|175086|175090|175091|175348|175351|175352|175354|175359|175361|175366|229977|229980|229983|229990|229993|229994|229999|230001|230004|237610|273542|312810|312811|312812|312818|312829|312830|312835|312839|312841|312846|312851|312852|312853|312857|318828|318835|318836|318859|318870|318882|318883|318889|318898|324933|324943|324948|324959|324960|324961|324966|324969|324970|324971|324978|324982|324992|325005|325006|325011|325783|325803|325813|325818|325819|325820|325823|325828|325856|325862|325864|325867|325869|325870|325874|325878|389239|389963|404795|421833|489962|493527|553262|553263|553264|610568|615812|654629|654630|654637|752490|802076|805095|859843|867348|867349|867350|867351|867352|867353|867354|867355|867356|867357|867358|867359|867360|867361|867362|867363|867364|867365|867366|867367|867368|867369|867370|867371|867372|867373|867374|867375|867376|867377|867378|867379", "text": "Deafness, autosomal recessive 21" }, { - "baseId": "54790|54796|54797|54801|54804|140104|140107|175330|198349|198350|323868|503859|508855|512843|512845", + "upstreamId": "54790|54796|54797|54801|54804|140104|140107|175330|198349|198350|323868|503859|508855|512843|512845", "text": "Congenital total pulmonary venous return anomaly" }, { - "baseId": "54790|54792|54793|54795|54796|54798|54800|54804|175049|175051|175330|189882|189885|196016|198335|198339|198345|198346|198347|198348|198351|198352|229953|258679|317236|397731|460328|460388|460682|460685|461152|495460|510249|511101|525611|525613|525816|525819|525949|525952|564054|564918|564921|566613|566615|566620|639305|639306|639307|639308|639309|639310|652346|837474|837475|837476|837477|837478|837479|851399|925976|935234|940187|940973|947132|956272|956273|960734", + "upstreamId": "54790|54792|54793|54795|54796|54798|54800|54804|175049|175051|175330|189882|189885|196016|198335|198339|198345|198346|198347|198348|198351|198352|229953|258679|317236|397731|460328|460388|460682|460685|461152|495460|510249|511101|525611|525613|525816|525819|525949|525952|564054|564918|564921|566613|566615|566620|639305|639306|639307|639308|639309|639310|652346|837474|837475|837476|837477|837478|837479|851399|925976|935234|940187|940973|947132|956272|956273|960734", "text": "ANKRD1-related dilated cardiomyopathy" }, { - "baseId": "54890", + "upstreamId": "54890", "text": "PRKAG2-Related Disorders" }, { - "baseId": "55056|535235|535236", + "upstreamId": "55056|535235|535236", "text": "Non-Syndromic Hereditary Hearing Impairment" }, { - "baseId": "55205|204061|205216|205458|247331|260847|265019|360151|420147|427753|428945|495885|511271|512539|521026|535230|540496|581716|590972|590973|590974|590975|590976|590977|590978|590979|590980|590981|590982|590983|676961|714860|740123|805074|805220|971479|972619|972620|972621|972622|972623|972624|972625|972626|972627|972628|972629|972630|972631|972632|972633|972634|972635|972636|972637|972638|972639|972640|972641|972642|972643|972644|972645|972646|972647|972648|972649|972650|972651|972652|972653|972654|972655|972656|972657|972658|972659|972660|972661|972662|972663|972664|972665|972666|972667|972668|972669|972670|972671|972672|972673|972674|972675|972676|972677|972678|972679|972680|972681|972682|972683|972684|972685|972686|972687|972688|972689|972690|972691|972692|972693|972694|972695|972696|972697|972698|972699|972700|972701|972702|972703|972704|972705|972706|972707|972708", + "upstreamId": "55205|204061|205216|205458|247331|260847|265019|360151|420147|427753|428945|495885|511271|512539|521026|535230|540496|581716|590972|590973|590974|590975|590976|590977|590978|590979|590980|590981|590982|590983|676961|714860|740123|805074|805220|971479|972619|972620|972621|972622|972623|972624|972625|972626|972627|972628|972629|972630|972631|972632|972633|972634|972635|972636|972637|972638|972639|972640|972641|972642|972643|972644|972645|972646|972647|972648|972649|972650|972651|972652|972653|972654|972655|972656|972657|972658|972659|972660|972661|972662|972663|972664|972665|972666|972667|972668|972669|972670|972671|972672|972673|972674|972675|972676|972677|972678|972679|972680|972681|972682|972683|972684|972685|972686|972687|972688|972689|972690|972691|972692|972693|972694|972695|972696|972697|972698|972699|972700|972701|972702|972703|972704|972705|972706|972707|972708", "text": "Neurodevelopmental abnormality" }, { - "baseId": "55236|55237|55239|55244|55245|55246|55247|99987|137043|175007|175287|175289|253830|310742|310745|310771|310806|310808|310811|316006|316010|316044|316047|316063|322088|322102|322108|322109|322165|322166|322713|322714|322725|322726|322738|322776|353137|353139|353147|353148|353153", + "upstreamId": "55236|55237|55239|55244|55245|55246|55247|99987|137043|175007|175287|175289|253830|310742|310745|310771|310806|310808|310811|316006|316010|316044|316047|316063|322088|322102|322108|322109|322165|322166|322713|322714|322725|322726|322738|322776|353137|353139|353147|353148|353153", "text": "Atypical Gaucher Disease" }, { - "baseId": "55321|78664|173755|173788|199000|199104|199701|442773|621161|631896|914872|965300|965303", + "upstreamId": "55321|78664|173755|173788|199000|199104|199701|442773|621161|631896|914872|965300|965303", "text": "Sudden cardiac arrest" }, { - "baseId": "55719|55720|55721|55722|55723|55724|55725|55726|55727|55729|55730|55731|55732|55733|55734|55735|174359|174360|174361|174362|174365|174367|174368|174371|174374|174376|174497|174500|174501|177630|193796|194635|194896|194897|195091|195498|227296|229440|229442|229444|229445|229447|229448|229452|229455|229456|229462|229465|229466|229470|229475|229479|252334|266947|270741|275654|275676|275681|275684|275690|275704|275711|275712|275718|275727|275732|275740|299883|299889|299892|299895|299897|299899|299901|299904|299906|302506|302507|302508|302511|302512|302513|302522|302532|302534|302535|302536|302537|306913|306914|306916|306917|306918|306919|306922|306923|306924|306925|306926|306934|306935|307189|307191|307199|307200|307201|307202|307207|307208|307211|307213|307214|331094|331165|353246|353769", + "upstreamId": "55719|55720|55721|55722|55723|55724|55725|55726|55727|55729|55730|55731|55732|55733|55734|55735|174359|174360|174361|174362|174365|174367|174368|174371|174374|174376|174497|174500|174501|177630|193796|194635|194896|194897|195091|195498|227296|229440|229442|229444|229445|229447|229448|229452|229455|229456|229462|229465|229466|229470|229475|229479|252334|266947|270741|275654|275676|275681|275684|275690|275704|275711|275712|275718|275727|275732|275740|299883|299889|299892|299895|299897|299899|299901|299904|299906|302506|302507|302508|302511|302512|302513|302522|302532|302534|302535|302536|302537|306913|306914|306916|306917|306918|306919|306922|306923|306924|306925|306926|306934|306935|307189|307191|307199|307200|307201|307202|307207|307208|307211|307213|307214|331094|331165|353246|353769", "text": "Stickler Syndrome, Dominant" }, { - "baseId": "55808|55947|172698|173473|198685|199454|224987|225089|225112|268495|269201|273235|285948|443093|489806|511068|513516|538958|608943|620038|620039|620040|620041|620736|626120|788744|961256", + "upstreamId": "55808|55947|172698|173473|198685|199454|224987|225089|225112|268495|269201|273235|285948|443093|489806|511068|513516|538958|608943|620038|620039|620040|620041|620736|626120|788744|961256", "text": "TTN-Related Disorders" }, { - "baseId": "56032|56625|168985|173089|198566|205422|205423|205424|205425|205426|205427|205428|205429|205430|205431|205432|205433|205434|205437|205438|205439|205440|205441|205442|205445|205446|205447|205448|205449|205450|205451|205452|205453|205456|205457|205461|205462|205463|205464|205465|205466|205467|205468|205469|205470|205473|205474|205475|205476|205477|205478|205479|205482|205483|205484|205485|205486|205487|205488|205489|205490|205493|205494|205495|205496|205497|205498|205499|205500|205501|205502|205503|205504|205505|205506|205507|205508|205509|205510|205511|205512|205513|205514|205515|205516|205517|205518|205519|205520|205521|205522|205523|205524|205525|205526|205527|205528|205529|205530|205531|215664|553412|578035|679574|679575|679576|679577", + "upstreamId": "56032|56625|168985|173089|198566|205422|205423|205424|205425|205426|205427|205428|205429|205430|205431|205432|205433|205434|205437|205438|205439|205440|205441|205442|205445|205446|205447|205448|205449|205450|205451|205452|205453|205456|205457|205461|205462|205463|205464|205465|205466|205467|205468|205469|205470|205473|205474|205475|205476|205477|205478|205479|205482|205483|205484|205485|205486|205487|205488|205489|205490|205493|205494|205495|205496|205497|205498|205499|205500|205501|205502|205503|205504|205505|205506|205507|205508|205509|205510|205511|205512|205513|205514|205515|205516|205517|205518|205519|205520|205521|205522|205523|205524|205525|205526|205527|205528|205529|205530|205531|215664|553412|578035|679574|679575|679576|679577", "text": "Abnormality of neuronal migration" }, { - "baseId": "57216", + "upstreamId": "57216", "text": "Insulin resistance syndrome, type A" }, { - "baseId": "57463|142741|171118|173790|173931|178523|214482|214485|224269|290242|290243|290244|290254|290271|290276|291029|291030|291039|291040|291049|291066|291078|291087|291088|291095|294310|294320|294337|294342|294384|294386|294391|294399|294413|294701|294707|294717|294718|294722|294738", + "upstreamId": "57463|142741|171118|173790|173931|178523|214482|214485|224269|290242|290243|290244|290254|290271|290276|291029|291030|291039|291040|291049|291066|291078|291087|291088|291095|294310|294320|294337|294342|294384|294386|294391|294399|294413|294701|294707|294717|294718|294722|294738", "text": "Paroxysmal familial ventricular fibrillation" }, { - "baseId": "57463|142741|173790|173931|178523|224269|290242|290243|290244|290254|290271|290276|291029|291030|291039|291040|291049|291066|291078|291087|291088|291095|294310|294320|294337|294342|294384|294386|294391|294399|294413|294701|294707|294717|294718|294722|294738|334065|343988|350201|353517|424552", + "upstreamId": "57463|142741|173790|173931|178523|224269|290242|290243|290244|290254|290271|290276|291029|291030|291039|291040|291049|291066|291078|291087|291088|291095|294310|294320|294337|294342|294384|294386|294391|294399|294413|294701|294707|294717|294718|294722|294738|334065|343988|350201|353517|424552", "text": "Progressive familial heart block" }, { - "baseId": "57808|75301|165812|165813|168532|168534|168535|359705|363137|428463|433821|455054|455232|455235|455691|455694|455697|455946|521519|521583|521589|521590|521845|560361|560363|560365|563199|565168|576118|612709|614289|633995|633996|633997|633998|651333|721506|735163|749563|749564|759604|765179|765180|765182|765185|779323|782328|815949|830918|830919|830920|830921|830922|830923|830924|830925|830926|830927|830928|830929|830930|830931|830932|830933|830934|852216|924094|924095|924096|932938|932939|932940|940007|944643|954185|954186|954187|959770", + "upstreamId": "57808|75301|165812|165813|168532|168534|168535|359705|363137|428463|433821|455054|455232|455235|455691|455694|455697|455946|521519|521583|521589|521590|521845|560361|560363|560365|563199|565168|576118|612709|614289|633995|633996|633997|633998|651333|721506|735163|749563|749564|759604|765179|765180|765182|765185|779323|782328|815949|830918|830919|830920|830921|830922|830923|830924|830925|830926|830927|830928|830929|830930|830931|830932|830933|830934|852216|924094|924095|924096|932938|932939|932940|940007|944643|954185|954186|954187|959770", "text": "Agammaglobulinemia 7, autosomal recessive" }, { - "baseId": "57809|57810|57810|81549|137523|137524|137525|137526|137527|137528|137530|137531|137532|137538|137539|137540|137541|137542|137543|137545|181280|199872|415098|428708|456684|456695|457131|457131|457133|457138|457139|457303|457306|457315|457320|457326|457729|457730|457732|457747|522626|522630|522886|522887|522889|522894|522896|522899|522902|523022|523025|523044|523046|523048|523052|523067|523266|523274|523280|523282|523285|553384|561544|561557|561563|561896|561899|561899|561901|561902|561903|561910|564278|564286|564288|566808|566815|566817|566819|566821|614312|614313|636095|636096|636097|636098|636099|636100|636101|636102|636103|636104|636105|636106|636107|636108|636109|636110|636111|636112|636113|636114|636115|636116|636117|636118|636119|636120|636121|636122|651671|651708|651805|700026|700027|710961|710962|710963|710964|710965|710966|710967|710968|722486|722487|722488|722489|736108|750604|750606|750610|759666|766250|766251|766253|766256|779229|787509|796030|819867|819868|819869|833539|833540|833541|833542|833543|833544|833545|833546|833547|833548|833549|833550|833551|833552|833553|833554|833555|833556|851642|852086|852360|859603|924835|924836|924837|924838|933858|933859|933860|933861|933862|933863|933864|933865|933866|945605|945606|945607|945608|945609|945610|945611|945612|945613|945614|945615|955137|955138|955139|955140|955141|955142|955143|955144|961953|970856", + "upstreamId": "57809|57810|57810|81549|137523|137524|137525|137526|137527|137528|137530|137531|137532|137538|137539|137540|137541|137542|137543|137545|181280|199872|415098|428708|456684|456695|457131|457131|457133|457138|457139|457303|457306|457315|457320|457326|457729|457730|457732|457747|522626|522630|522886|522887|522889|522894|522896|522899|522902|523022|523025|523044|523046|523048|523052|523067|523266|523274|523280|523282|523285|553384|561544|561557|561563|561896|561899|561899|561901|561902|561903|561910|564278|564286|564288|566808|566815|566817|566819|566821|614312|614313|636095|636096|636097|636098|636099|636100|636101|636102|636103|636104|636105|636106|636107|636108|636109|636110|636111|636112|636113|636114|636115|636116|636117|636118|636119|636120|636121|636122|651671|651708|651805|700026|700027|710961|710962|710963|710964|710965|710966|710967|710968|722486|722487|722488|722489|736108|750604|750606|750610|759666|766250|766251|766253|766256|779229|787509|796030|819867|819868|819869|833539|833540|833541|833542|833543|833544|833545|833546|833547|833548|833549|833550|833551|833552|833553|833554|833555|833556|851642|852086|852360|859603|924835|924836|924837|924838|933858|933859|933860|933861|933862|933863|933864|933865|933866|945605|945606|945607|945608|945609|945610|945611|945612|945613|945614|945615|955137|955138|955139|955140|955141|955142|955143|955144|961953|970856", "text": "B-cell expansion with NFKB and T-cell anergy" }, { - "baseId": "57810|57811|57812|81549|137523|137524|137525|137526|137527|137528|137530|137531|137532|137538|137539|137540|137541|137542|137543|137545|415098|428708|456684|456695|457131|457131|457133|457138|457139|457303|457306|457315|457320|457326|457729|457730|457732|457747|522626|522630|522886|522887|522889|522894|522896|522899|522902|523022|523025|523044|523046|523048|523052|523067|523266|523274|523280|523282|523285|553384|561544|561557|561563|561896|561899|561899|561901|561902|561903|561910|564278|564286|564288|566808|566815|566817|566819|566821|614312|614313|624739|636095|636096|636097|636098|636099|636100|636101|636102|636103|636104|636105|636106|636107|636108|636109|636110|636111|636112|636113|636114|636115|636116|636117|636118|636119|636120|636121|636122|651671|651708|651805|700026|700027|710961|710962|710963|710964|710965|710966|710967|710968|722486|722487|722488|722489|736108|750604|750606|750610|759666|766250|766251|766253|766256|779229|787509|790718|796030|819867|819868|819869|833539|833540|833541|833542|833543|833544|833545|833546|833547|833548|833549|833550|833551|833552|833553|833554|833555|833556|851642|852086|852360|859603|924835|924836|924837|924838|933858|933859|933860|933861|933862|933863|933864|933865|933866|945605|945606|945607|945608|945609|945610|945611|945612|945613|945614|945615|955137|955138|955139|955140|955141|955142|955143|955144", + "upstreamId": "57810|57811|57812|81549|137523|137524|137525|137526|137527|137528|137530|137531|137532|137538|137539|137540|137541|137542|137543|137545|415098|428708|456684|456695|457131|457131|457133|457138|457139|457303|457306|457315|457320|457326|457729|457730|457732|457747|522626|522630|522886|522887|522889|522894|522896|522899|522902|523022|523025|523044|523046|523048|523052|523067|523266|523274|523280|523282|523285|553384|561544|561557|561563|561896|561899|561899|561901|561902|561903|561910|564278|564286|564288|566808|566815|566817|566819|566821|614312|614313|624739|636095|636096|636097|636098|636099|636100|636101|636102|636103|636104|636105|636106|636107|636108|636109|636110|636111|636112|636113|636114|636115|636116|636117|636118|636119|636120|636121|636122|651671|651708|651805|700026|700027|710961|710962|710963|710964|710965|710966|710967|710968|722486|722487|722488|722489|736108|750604|750606|750610|759666|766250|766251|766253|766256|779229|787509|790718|796030|819867|819868|819869|833539|833540|833541|833542|833543|833544|833545|833546|833547|833548|833549|833550|833551|833552|833553|833554|833555|833556|851642|852086|852360|859603|924835|924836|924837|924838|933858|933859|933860|933861|933862|933863|933864|933865|933866|945605|945606|945607|945608|945609|945610|945611|945612|945613|945614|945615|955137|955138|955139|955140|955141|955142|955143|955144", "text": "Immunodeficiency 11" }, { - "baseId": "57813", + "upstreamId": "57813", "text": "Ataxia-oculomotor apraxia 3" }, { - "baseId": "58105", + "upstreamId": "58105", "text": "Cardiac rhabdomyoma" }, { - "baseId": "58105|360986", + "upstreamId": "58105|360986", "text": "Hamartoma" }, { - "baseId": "58133|360989|513953|514057|679672|679678", + "upstreamId": "58133|360989|513953|514057|679672|679678", "text": "Multiple renal cysts" }, { - "baseId": "58133|360908|360985|567807", + "upstreamId": "58133|360908|360985|567807", "text": "Cortical tubers" }, { - "baseId": "58297", + "upstreamId": "58297", "text": "Renal cortical cysts" }, { - "baseId": "58297|181426", + "upstreamId": "58297|181426", "text": "Cortical dysplasia" }, { - "baseId": "58496|76175", + "upstreamId": "58496|76175", "text": "Everolimus response" }, { - "baseId": "58541|152569|215257", + "upstreamId": "58541|152569|215257", "text": "Ganglioneuroblastoma" }, { - "baseId": "59193|243988|263247|459805|460363|460379|460383|460385|460387|460391|460393|460398|460399|460403|460427|460428|460715|460716|460722|460724|460726|460731|461183|461186|461188|461191|461194|461201|514032|525561|525565|525569|525572|525637|525639|525647|525651|525655|525827|525828|525830|525971|525974|525980|525986|551695|551753|564069|564072|564074|564076|564083|564954|564955|566664|566665|566671|566677|566681|569917|569918|569922|590093|639339|639340|639341|639342|639343|639344|639345|639346|639347|639348|652171|679509|679510|679511|679512|679513|692910|692911|701497|701498|712541|737665|737666|737667|768088|801130|822298|837544|837545|837546|837547|837548|837549|837550|837551|837552|837553|837554|837555|837556|837557|837558|837559|837560|837561|837562|837563|852287|861283|925991|925992|925993|925994|925995|935260|935261|947163|947164|947165|947166|947167|947168|956293|956294|956295|960738", + "upstreamId": "59193|243988|263247|459805|460363|460379|460383|460385|460387|460391|460393|460398|460399|460403|460427|460428|460715|460716|460722|460724|460726|460731|461183|461186|461188|461191|461194|461201|514032|525561|525565|525569|525572|525637|525639|525647|525651|525655|525827|525828|525830|525971|525974|525980|525986|551695|551753|564069|564072|564074|564076|564083|564954|564955|566664|566665|566671|566677|566681|569917|569918|569922|590093|639339|639340|639341|639342|639343|639344|639345|639346|639347|639348|652171|679509|679510|679511|679512|679513|692910|692911|701497|701498|712541|737665|737666|737667|768088|801130|822298|837544|837545|837546|837547|837548|837549|837550|837551|837552|837553|837554|837555|837556|837557|837558|837559|837560|837561|837562|837563|852287|861283|925991|925992|925993|925994|925995|935260|935261|947163|947164|947165|947166|947167|947168|956293|956294|956295|960738", "text": "Infantile spasms" }, { - "baseId": "59373|199976|205159|207647|513296|538631|538632|538633|538634|626185|626313|736960|792778|818265|818266|917769|917777|963152|970223|980933", + "upstreamId": "59373|199976|205159|207647|513296|538631|538632|538633|538634|626185|626313|736960|792778|818265|818266|917769|917777|963152|970223|980933", "text": "Hydrocephalus, congenital, 2, with or without brain or eye anomalies" }, { - "baseId": "59374|59375|59376|59377|59458|205774|623182|626227|626228|904123|917820|919527", + "upstreamId": "59374|59375|59376|59377|59458|205774|623182|626227|626228|904123|917820|919527", "text": "Mitochondrial complex 1 deficiency, nuclear type 21" }, { - "baseId": "59381|59382|59383|59386|59387|227393|361018|361019|404831|404832", + "upstreamId": "59381|59382|59383|59386|59387|227393|361018|361019|404831|404832", "text": "Platelet-type bleeding disorder 16" }, { - "baseId": "59384|59385|292267|292268|292269|292273|292279|292281|292286|292290|292297|292299|292304|292307|293718|293726|293727|293728|293730|293731|293735|293738|293740|293741|293742|297014|297018|297019|297020|297021|297029|297058|297062|297070|297071|297076|297079|413915|413916|413917|413918|590521|748750|890116|890117|890118|890119|890120|890121|890122|890123|890124|890125|890126|890127|890128|890129|890130|890131|890132|890133|890134|890135|890136|890137|890138|890139|890140|890141|890142|890143", + "upstreamId": "59384|59385|292267|292268|292269|292273|292279|292281|292286|292290|292297|292299|292304|292307|293718|293726|293727|293728|293730|293731|293735|293738|293740|293741|293742|297014|297018|297019|297020|297021|297029|297058|297062|297070|297071|297076|297079|413915|413916|413917|413918|590521|748750|890116|890117|890118|890119|890120|890121|890122|890123|890124|890125|890126|890127|890128|890129|890130|890131|890132|890133|890134|890135|890136|890137|890138|890139|890140|890141|890142|890143", "text": "Smith-McCort dysplasia 2" }, { - "baseId": "59388|59389|59390|59391|205272|226931|481499|653880|791191|818141|818142|858308|919404|972791|972792", + "upstreamId": "59388|59389|59390|59391|205272|226931|481499|653880|791191|818141|818142|858308|919404|972791|972792", "text": "Kaufman oculocerebrofacial syndrome" }, { - "baseId": "59404|59405|59406|59407|59408|59409|178389|481176|583117|861573", + "upstreamId": "59404|59405|59406|59407|59408|59409|178389|481176|583117|861573", "text": "Osteogenesis imperfecta, type xv" }, { - "baseId": "59404|59410|65585", + "upstreamId": "59404|59410|65585", "text": "Bone mineral density quantitative trait locus 16" }, { - "baseId": "59409|132441|335022|535387|535388|535389|535390|535391|535392|535393|535394|535395|535396|535397", + "upstreamId": "59409|132441|335022|535387|535388|535389|535390|535391|535392|535393|535394|535395|535396|535397", "text": "Keratoconus" }, { - "baseId": "59435", + "upstreamId": "59435", "text": "Postaxial polydactyly type A6" }, { - "baseId": "59456", + "upstreamId": "59456", "text": "Abruzzo-Erickson syndrome" }, { - "baseId": "59457|227395|362180|362181|380163|791794", + "upstreamId": "59457|227395|362180|362181|380163|791794", "text": "Palmoplantar carcinoma, multiple self-healing" }, { - "baseId": "59478", + "upstreamId": "59478", "text": "Mitochondrial complex v (atp synthase) deficiency, nuclear type 4" }, { - "baseId": "59487|611402", + "upstreamId": "59487|611402", "text": "Schizophrenia 18" }, { - "baseId": "59488|59489|59490|139386|139387|139388|226657|243816|243817|361244|378363|379305|379431|379432|404303|404397|404580|404583|446897|470863|470870|471896|472162|508136|508287|534385|534826|534857|535012|535179|535180|573892|575427|578006|581116|581117|622952|626297|650091|650092|650093|650094|650095|685020|685022|689525|774088|786855|792464|792465|792466|798316|798317|802051|850109|850110|850111|850112|850113|850114|850115|850116|852984|929757|939613|939614|939615|939616|951816|973049|983308", + "upstreamId": "59488|59489|59490|139386|139387|139388|226657|243816|243817|361244|378363|379305|379431|379432|404303|404397|404580|404583|446897|470863|470870|471896|472162|508136|508287|534385|534826|534857|535012|535179|535180|573892|575427|578006|581116|581117|622952|626297|650091|650092|650093|650094|650095|685020|685022|689525|774088|786855|792464|792465|792466|798316|798317|802051|850109|850110|850111|850112|850113|850114|850115|850116|852984|929757|939613|939614|939615|939616|951816|973049|983308", "text": "SLC35A2-CDG" }, { - "baseId": "59491|99989|177261|190406|190408|190409|192345|204535|204536|204537|204538|204539|204540|204541|204542|204543|204544|204545|204546|204547|204548|204549|204550|204551|204552|204553|204554|204555|204556|204557|204558|204559|204560|204561|204562|204563|204564|204565|204566|857383", + "upstreamId": "59491|99989|177261|190406|190408|190409|192345|204535|204536|204537|204538|204539|204540|204541|204542|204543|204544|204545|204546|204547|204548|204549|204550|204551|204552|204553|204554|204555|204556|204557|204558|204559|204560|204561|204562|204563|204564|204565|204566|857383", "text": "Retinitis pigmentosa 66" }, { - "baseId": "59495", + "upstreamId": "59495", "text": "Hypochromic microcytic anemia with iron overload 2" }, { - "baseId": "59505|59506|59507|59508|225799", + "upstreamId": "59505|59506|59507|59508|225799", "text": "Intestinal pseudo-obstruction" }, { - "baseId": "59522", + "upstreamId": "59522", "text": "Familial partial lipodystrophy 5" }, { - "baseId": "59540|150285|150286", + "upstreamId": "59540|150285|150286", "text": "Nephrotic syndrome, type 8" }, { - "baseId": "59541|59542|59543|59544|59545|682817|791135|791136|791137|791138|815994|815995|919360", + "upstreamId": "59541|59542|59543|59544|59545|682817|791135|791136|791137|791138|815994|815995|919360", "text": "Hyperphosphatasia with mental retardation syndrome 3" }, { - "baseId": "59642|59643|150258|150259|150260|150261|150262|188215|188216|188217|188218|188219|188220|188221|188222|188223|268384|268385|353890|367334|434519|434520|438765|438903|450927|450932|451033|451037|451039|451041|451045|451047|451225|451226|451238|451239|451241|451245|512810|518244|518245|518249|518254|518255|518257|518258|518259|518260|518266|518279|518287|518289|518290|518356|518361|518362|518364|518366|518375|518377|558107|558109|558111|558113|558115|558474|558476|558478|558480|560643|560645|560647|560649|560651|561549|614244|614245|614246|630034|630035|630036|630037|630038|630039|630040|630041|630042|630043|630044|630045|630046|630047|630048|630049|630050|630051|630052|630053|630054|630055|630056|630057|630058|630059|630060|630061|630062|630063|630064|630065|630066|630067|630068|630069|630070|651055|708298|708299|708300|708301|708302|719889|719890|719892|719893|719894|730143|733498|733500|733502|747662|747665|747666|763257|763258|763265|774739|778919|787140|816353|819174|826513|826514|826515|826516|826517|826518|826519|826520|826521|826522|826523|826524|826525|826526|826527|826528|826529|826530|826531|826532|826533|826534|826535|826536|826537|826538|826539|826540|826541|826542|826543|826544|826545|826546|850863|851180|851430|920180|922783|922784|922785|922786|922787|922788|922789|922790|922791|922792|931418|931419|931420|931421|931422|931423|931424|931425|939895|939896|939897|939898|940710|940711|942942|942943|942944|942945|942946|942947|942948|942949|942950|942951|953097|953098|953099|953100|953101|953102|953103|953104|959643|959644|960478|980447", + "upstreamId": "59642|59643|150258|150259|150260|150261|150262|188215|188216|188217|188218|188219|188220|188221|188222|188223|268384|268385|353890|367334|434519|434520|438765|438903|450927|450932|451033|451037|451039|451041|451045|451047|451225|451226|451238|451239|451241|451245|512810|518244|518245|518249|518254|518255|518257|518258|518259|518260|518266|518279|518287|518289|518290|518356|518361|518362|518364|518366|518375|518377|558107|558109|558111|558113|558115|558474|558476|558478|558480|560643|560645|560647|560649|560651|561549|614244|614245|614246|630034|630035|630036|630037|630038|630039|630040|630041|630042|630043|630044|630045|630046|630047|630048|630049|630050|630051|630052|630053|630054|630055|630056|630057|630058|630059|630060|630061|630062|630063|630064|630065|630066|630067|630068|630069|630070|651055|708298|708299|708300|708301|708302|719889|719890|719892|719893|719894|730143|733498|733500|733502|747662|747665|747666|763257|763258|763265|774739|778919|787140|816353|819174|826513|826514|826515|826516|826517|826518|826519|826520|826521|826522|826523|826524|826525|826526|826527|826528|826529|826530|826531|826532|826533|826534|826535|826536|826537|826538|826539|826540|826541|826542|826543|826544|826545|826546|850863|851180|851430|920180|922783|922784|922785|922786|922787|922788|922789|922790|922791|922792|931418|931419|931420|931421|931422|931423|931424|931425|939895|939896|939897|939898|940710|940711|942942|942943|942944|942945|942946|942947|942948|942949|942950|942951|953097|953098|953099|953100|953101|953102|953103|953104|959643|959644|960478|980447", "text": "Multiple gastrointestinal atresias" }, { - "baseId": "59644|59645|59645|137085|170191|170192|170192|253145|369966|371867|371870|425795|428841|428842|428843|457700|457868|457873|457874|457875|458471|458474|458515|458516|458519|458922|458936|458937|458942|523581|524184|524186|524188|524189|524197|562424|562953|562957|637220|637221|637222|651819|651820|651858|692499|692501|692503|723109|736684|736685|744495|783113|805578|834771|834772|834773|834774|834775|834776|834777|834778|834779|834780|925205|925206|925207|925208|934317|940908|946076|955416|955417|955418|955419|955420|955421", + "upstreamId": "59644|59645|59645|137085|170191|170192|170192|253145|369966|371867|371870|425795|428841|428842|428843|457700|457868|457873|457874|457875|458471|458474|458515|458516|458519|458922|458936|458937|458942|523581|524184|524186|524188|524189|524197|562424|562953|562957|637220|637221|637222|651819|651820|651858|692499|692501|692503|723109|736684|736685|744495|783113|805578|834771|834772|834773|834774|834775|834776|834777|834778|834779|834780|925205|925206|925207|925208|934317|940908|946076|955416|955417|955418|955419|955420|955421", "text": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12" }, { - "baseId": "59645|137085|170192|253145|369966|371867|371870|425795|428841|428842|428843|457700|457868|457873|457874|457875|458471|458474|458515|458516|458519|458922|458936|458937|458942|523581|524184|524186|524188|524189|524197|562424|562953|562957|637220|637221|637222|651819|651820|651858|692499|692501|692503|723109|736684|736685|744495|783113|802164|802165|805578|834771|834772|834773|834774|834775|834776|834777|834778|834779|834780|925205|925206|925207|925208|934317|940908|946076|955416|955417|955418|955419|955420|955421", + "upstreamId": "59645|137085|170192|253145|369966|371867|371870|425795|428841|428842|428843|457700|457868|457873|457874|457875|458471|458474|458515|458516|458519|458922|458936|458937|458942|523581|524184|524186|524188|524189|524197|562424|562953|562957|637220|637221|637222|651819|651820|651858|692499|692501|692503|723109|736684|736685|744495|783113|802164|802165|805578|834771|834772|834773|834774|834775|834776|834777|834778|834779|834780|925205|925206|925207|925208|934317|940908|946076|955416|955417|955418|955419|955420|955421", "text": "Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 12" }, { - "baseId": "59797|59798|59799|139355|139357", + "upstreamId": "59797|59798|59799|139355|139357", "text": "Hemolytic uremic syndrome, atypical, susceptibility to, 7" }, { - "baseId": "59800|59801|59802|59803|59804|59805|59806|168075|168079|168080|207026|428099|485890|801983", + "upstreamId": "59800|59801|59802|59803|59804|59805|59806|168075|168079|168080|207026|428099|485890|801983", "text": "Microcephaly-capillary malformation syndrome" }, { - "baseId": "59809|59810|59811|59812|59813|59814|59815|143125|143126|178806|178807|181177|181178|188295|208787|243704|243706|243711|243712|259327|259328|259329|259330|259331|259332|259333|259334|259335|259336|259337|259338|259339|259340|259341|259342|259343|259344|259345|259346|259347|259348|259349|259350|259351|259352|259353|259354|259355|259356|259357|259358|259359|259360|259361|259362|259363|259364|259365|259366|259367|259368|259369|259370|259371|259372|259373|259374|259375|259376|259377|259378|259379|379847|403956|403972|403980|403982|404370|404373|404380|404388|404402|404405|404409|404412|410990|410996|442348|442350|446402|470204|470215|470225|470229|470230|470252|470254|470889|471094|471110|471111|471535|471538|471545|471929|471932|471941|471948|471950|486776|512517|534226|534238|534248|534256|534284|534290|534302|534308|534384|534390|534394|534397|534563|534736|534739|534743|534745|534746|534752|534754|534766|534767|538498|551798|571938|571940|571941|571943|571945|571953|571963|571965|571967|571971|571973|571975|573228|573382|573384|573389|573392|574103|574107|574112|574120|574121|575261|575264|575265|575266|575267|580786|581846|589846|614608|649410|649412|649415|649416|649418|649419|649425|649427|649429|649430|649433|649435|649436|649437|649441|649443|649447|649450|649451|653209|653215|653257|653286|653326|653899|792054|792055|798087|802063|802064|905031|919948|919949|920427|963187|963347|966017|966018|971159|971598", + "upstreamId": "59809|59810|59811|59812|59813|59814|59815|143125|143126|178806|178807|181177|181178|188295|208787|243704|243706|243711|243712|259327|259328|259329|259330|259331|259332|259333|259334|259335|259336|259337|259338|259339|259340|259341|259342|259343|259344|259345|259346|259347|259348|259349|259350|259351|259352|259353|259354|259355|259356|259357|259358|259359|259360|259361|259362|259363|259364|259365|259366|259367|259368|259369|259370|259371|259372|259373|259374|259375|259376|259377|259378|259379|379847|403956|403972|403980|403982|404370|404373|404380|404388|404402|404405|404409|404412|410990|410996|442348|442350|446402|470204|470215|470225|470229|470230|470252|470254|470889|471094|471110|471111|471535|471538|471545|471929|471932|471941|471948|471950|486776|512517|534226|534238|534248|534256|534284|534290|534302|534308|534384|534390|534394|534397|534563|534736|534739|534743|534745|534746|534752|534754|534766|534767|538498|551798|571938|571940|571941|571943|571945|571953|571963|571965|571967|571971|571973|571975|573228|573382|573384|573389|573392|574103|574107|574112|574120|574121|575261|575264|575265|575266|575267|580786|581846|589846|614608|649410|649412|649415|649416|649418|649419|649425|649427|649429|649430|649433|649435|649436|649437|649441|649443|649447|649450|649451|653209|653215|653257|653286|653326|653899|792054|792055|798087|802063|802064|905031|919948|919949|920427|963187|963347|966017|966018|971159|971598", "text": "Epilepsy, familial focal, with variable foci 1" }, { - "baseId": "59809|59810|143125|178807|188295|208787|243705|243706|243707|243708|243709|243710|243712|243713|243714|257601|257602|257603|257605|257607|259330|259332|259338|259339|259345|259346|259352|259354|259357|259363|259365|259366|259367|259369|259372|360528|361622|378785|403947|403952|403953|403957|403958|403960|403962|403965|403968|403969|403970|403978|403981|403982|403983|403984|404004|404369|404374|404375|404376|404383|404385|404386|404390|404392|404395|404396|404400|404405|404407|404417|404421|404422|410986|410991|410996|411006|426705|438223|438224|442349|469863|470214|470217|470229|470238|470246|470259|470261|470887|471089|471090|471095|471098|471101|471103|471105|471109|471112|471526|471528|471531|471539|471543|471545|471547|471930|471933|471934|471935|471936|471943|471944|471945|471949|486303|507685|534014|534036|534231|534234|534239|534247|534251|534256|534267|534272|534276|534278|534281|534285|534294|534311|534361|534363|534366|534382|534388|534390|534748|534770|537407|571949|571954|571969|573377|573383|573385|573388|573397|574105|574113|574115|574118|575260|575262|575263|580494|580497|580623|580639|580655|580657|580659|580766|580780|580785|649408|649409|649411|649412|649413|649414|649417|649420|649421|649422|649423|649424|649426|649428|649431|649432|649434|649438|649439|649440|649442|649444|649445|649446|649448|649449|649452|649453|653261|653335|684918|684920|684921|685472|689277|689278|689279|689280|689281|689282|689283|689284|689286|705895|705897|729148|742861|758048|773522|821450|821451|821452|821453|821454|821455|821456|821457|821458|849252|849253|849254|849255|849256|849257|849258|849259|849260|849261|849262|849263|849264|849265|849266|849267|849268|849269|849270|849271|849272|849273|849274|849275|849276|849277|849278|849279|849280|849281|849282|849283|849284|849285|849286|849287|849288|849289|849290|849291|849292|849293|849294|849295|849296|849297|851922|851924|852436|852439|852931|852932|852934|929471|929472|929473|929474|929475|929476|929477|929478|929479|929480|929481|939276|939277|939278|939279|939280|939281|939282|939283|939284|939285|939286|939287|939288|939289|939290|939291|939292|939293|939294|939295|939296|939297|939298|939299|940531|940532|940533|941280|951436|951437|951438|951439|951440|951441|951442|951443|951444|951445|951446|951447|951448|951449|951450|951451|951452|951453|951454|951455|951456|951457|959074|959075|959076|959077|959078|959079|959080|959081|959082|959083|959084|960347", + "upstreamId": "59809|59810|143125|178807|188295|208787|243705|243706|243707|243708|243709|243710|243712|243713|243714|257601|257602|257603|257605|257607|259330|259332|259338|259339|259345|259346|259352|259354|259357|259363|259365|259366|259367|259369|259372|360528|361622|378785|403947|403952|403953|403957|403958|403960|403962|403965|403968|403969|403970|403978|403981|403982|403983|403984|404004|404369|404374|404375|404376|404383|404385|404386|404390|404392|404395|404396|404400|404405|404407|404417|404421|404422|410986|410991|410996|411006|426705|438223|438224|442349|469863|470214|470217|470229|470238|470246|470259|470261|470887|471089|471090|471095|471098|471101|471103|471105|471109|471112|471526|471528|471531|471539|471543|471545|471547|471930|471933|471934|471935|471936|471943|471944|471945|471949|486303|507685|534014|534036|534231|534234|534239|534247|534251|534256|534267|534272|534276|534278|534281|534285|534294|534311|534361|534363|534366|534382|534388|534390|534748|534770|537407|571949|571954|571969|573377|573383|573385|573388|573397|574105|574113|574115|574118|575260|575262|575263|580494|580497|580623|580639|580655|580657|580659|580766|580780|580785|649408|649409|649411|649412|649413|649414|649417|649420|649421|649422|649423|649424|649426|649428|649431|649432|649434|649438|649439|649440|649442|649444|649445|649446|649448|649449|649452|649453|653261|653335|684918|684920|684921|685472|689277|689278|689279|689280|689281|689282|689283|689284|689286|705895|705897|729148|742861|758048|773522|821450|821451|821452|821453|821454|821455|821456|821457|821458|849252|849253|849254|849255|849256|849257|849258|849259|849260|849261|849262|849263|849264|849265|849266|849267|849268|849269|849270|849271|849272|849273|849274|849275|849276|849277|849278|849279|849280|849281|849282|849283|849284|849285|849286|849287|849288|849289|849290|849291|849292|849293|849294|849295|849296|849297|851922|851924|852436|852439|852931|852932|852934|929471|929472|929473|929474|929475|929476|929477|929478|929479|929480|929481|939276|939277|939278|939279|939280|939281|939282|939283|939284|939285|939286|939287|939288|939289|939290|939291|939292|939293|939294|939295|939296|939297|939298|939299|940531|940532|940533|941280|951436|951437|951438|951439|951440|951441|951442|951443|951444|951445|951446|951447|951448|951449|951450|951451|951452|951453|951454|951455|951456|951457|959074|959075|959076|959077|959078|959079|959080|959081|959082|959083|959084|960347", "text": "Familial focal epilepsy with variable foci" }, { - "baseId": "59816", + "upstreamId": "59816", "text": "Vel blood group system" }, { - "baseId": "59839|59839", + "upstreamId": "59839|59839", "text": "Sturge-Weber syndrome" }, { - "baseId": "59839|59839", + "upstreamId": "59839|59839", "text": "Capillary malformation" }, { - "baseId": "59840|59841|59842|59843|791287", + "upstreamId": "59840|59841|59842|59843|791287", "text": "Hypogonadotropic hypogonadism 19 with or without anosmia" }, { - "baseId": "59844|59846", + "upstreamId": "59844|59846", "text": "Hypogonadotropic hypogonadism 20 with or without anosmia" }, { - "baseId": "59845", + "upstreamId": "59845", "text": "Hypogonadotropic hypogonadism 20 without anosmia" }, { - "baseId": "59847", + "upstreamId": "59847", "text": "Hypogonadotropic hypogonadism 8 with or without anosmia" }, { - "baseId": "59848|59849|59850", + "upstreamId": "59848|59849|59850", "text": "HYPOGONADOTROPIC HYPOGONADISM 21 WITH ANOSMIA, SUSCEPTIBILITY TO" }, { - "baseId": "59851", + "upstreamId": "59851", "text": "Hypogonadotropic hypogonadism 21 with or without anosmia" }, { - "baseId": "59853|59856|59857", + "upstreamId": "59853|59856|59857", "text": "Hypogonadotropic hypogonadism 18 with anosmia" }, { - "baseId": "59854|59855", + "upstreamId": "59854|59855", "text": "HYPOGONADOTROPIC HYPOGONADISM 18 WITH ANOSMIA, SUSCEPTIBILITY TO" }, { - "baseId": "59858|59859|59860|59861", + "upstreamId": "59858|59859|59860|59861", "text": "Hypogonadotropic hypogonadism 17 with or without anosmia" }, { - "baseId": "65568|65569|65570|226691|226692|226693|918779", + "upstreamId": "65568|65569|65570|226691|226692|226693|918779", "text": "GAPO syndrome" }, { - "baseId": "65571|65572|65573", + "upstreamId": "65571|65572|65573", "text": "Spermatogenic failure 3" }, { - "baseId": "65574|65575|65576|196432|196433|196434|578460|788818|790738|801572", + "upstreamId": "65574|65575|65576|196432|196433|196434|578460|788818|790738|801572", "text": "Gordon Holmes syndrome" }, { - "baseId": "65578|65579|65580|538482|622449|798739|919811|919812|964885", + "upstreamId": "65578|65579|65580|538482|622449|798739|919811|919812|964885", "text": "Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant" }, { - "baseId": "65609|425223|512063|513332|538433|539049|788875|788876|789127|791297|800327|800328|800330|919494|920322|964857|981830", + "upstreamId": "65609|425223|512063|513332|538433|539049|788875|788876|789127|791297|800327|800328|800330|919494|920322|964857|981830", "text": "Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4" }, { - "baseId": "65610|65611|65612|199811|199812|205325|225889|247192|264790|360623|362396|362436|384424|430597|513149|537412|613834|613932|613967|614041|614076|789134|792084|798978|816531|861660|861661|919961|919962|961657|961695|963940|963941|964556|964557|964558|964994|964995|964996|964997|964998|964999|965000|965001|965002|965003|965004|965005|965006|965007|965008|965009|967017|976673|976674|983557|983802", + "upstreamId": "65610|65611|65612|199811|199812|205325|225889|247192|264790|360623|362396|362436|384424|430597|513149|537412|613834|613932|613967|614041|614076|789134|792084|798978|816531|861660|861661|919961|919962|961657|961695|963940|963941|964556|964557|964558|964994|964995|964996|964997|964998|964999|965000|965001|965002|965003|965004|965005|965006|965007|965008|965009|967017|976673|976674|983557|983802", "text": "22q13.3 deletion syndrome" }, { - "baseId": "65618|65619|65620|65621|105833|105834|105835|105836|105837|105838|105839|105840|105841|105842|105843|105844|105845|105846|105847|105848|105849|105850|105851|105852|105853|105854|105855|105856|105857|105858|105859|105860|105861|105862|105863|105864|105865|105866|105867|105868|105869|105870|105871|105872|105873|105874|105875|105876|105877|105878|105879", + "upstreamId": "65618|65619|65620|65621|105833|105834|105835|105836|105837|105838|105839|105840|105841|105842|105843|105844|105845|105846|105847|105848|105849|105850|105851|105852|105853|105854|105855|105856|105857|105858|105859|105860|105861|105862|105863|105864|105865|105866|105867|105868|105869|105870|105871|105872|105873|105874|105875|105876|105877|105878|105879", "text": "Glaucoma 1, open angle, F" }, { - "baseId": "65631|65632|131954|131955|131956|215281|223308|223309|223310|223311|223312|223313|223314|223315|223316|359521|367310|367313|404763|452009|452011|452014|452017|452020|452025|452235|452236|452241|452243|452247|452250|452271|452272|452277|452282|452284|452285|452288|452300|452302|452365|452367|452368|452370|452506|452510|452513|452514|481686|500683|519054|519057|519059|519062|519067|519069|519205|519206|519223|519225|519227|519229|519231|519235|539127|558868|558870|558872|558874|559417|559419|559421|561331|561340|561346|562643|562648|562650|562652|562654|631121|631122|631123|631124|631125|631126|631127|631128|631129|631130|631131|631132|631133|631134|631135|650984|651050|653858|691365|691366|698016|698017|720386|720387|720388|734005|743932|748183|763805|792735|798528|798529|805338|815810|815811|819364|827833|827834|827835|827836|827837|827838|827839|827840|827841|827842|827843|827844|827845|827846|827847|827848|827849|827850|827851|827852|827853|827854|827855|851037|851039|923115|923116|923117|923118|923119|923120|923121|923122|923123|923124|923125|923126|923127|923128|931875|931876|931877|931878|931879|931880|931881|940746|943456|943457|943458|943459|943460|943461|953417|953418|953419|953420|953421|953422|953423|960510|970764|976892|976893|976894", + "upstreamId": "65631|65632|131954|131955|131956|215281|223308|223309|223310|223311|223312|223313|223314|223315|223316|359521|367310|367313|404763|452009|452011|452014|452017|452020|452025|452235|452236|452241|452243|452247|452250|452271|452272|452277|452282|452284|452285|452288|452300|452302|452365|452367|452368|452370|452506|452510|452513|452514|481686|500683|519054|519057|519059|519062|519067|519069|519205|519206|519223|519225|519227|519229|519231|519235|539127|558868|558870|558872|558874|559417|559419|559421|561331|561340|561346|562643|562648|562650|562652|562654|631121|631122|631123|631124|631125|631126|631127|631128|631129|631130|631131|631132|631133|631134|631135|650984|651050|653858|691365|691366|698016|698017|720386|720387|720388|734005|743932|748183|763805|792735|798528|798529|805338|815810|815811|819364|827833|827834|827835|827836|827837|827838|827839|827840|827841|827842|827843|827844|827845|827846|827847|827848|827849|827850|827851|827852|827853|827854|827855|851037|851039|923115|923116|923117|923118|923119|923120|923121|923122|923123|923124|923125|923126|923127|923128|931875|931876|931877|931878|931879|931880|931881|940746|943456|943457|943458|943459|943460|943461|953417|953418|953419|953420|953421|953422|953423|960510|970764|976892|976893|976894", "text": "Congenital disorder of deglycosylation" }, { - "baseId": "65651|65652|65653|65654|380135|380136|380137|422499|426484|481509|513399|538517|576197|589822|677298|822347|920050|920051|920052|920053|965295|965890|971224|974537", + "upstreamId": "65651|65652|65653|65654|380135|380136|380137|422499|426484|481509|513399|538517|576197|589822|677298|822347|920050|920051|920052|920053|965295|965890|971224|974537", "text": "Intellectual disability-developmental delay-contractures syndrome" }, { - "baseId": "65655|65656|97543|139376|208626|243558|263149|334439|334441|334442|334445|334448|334451|344317|344322|344323|344324|344325|344326|349423|349426|349429|349430|349432|349433|349435|349436|349440|350426|378154|677462|679893|684854|882570|882571|882572|882573|882574|882575|882576|882577|882578|882579|882580|882581|882941", + "upstreamId": "65655|65656|97543|139376|208626|243558|263149|334439|334441|334442|334445|334448|334451|344317|344322|344323|344324|344325|344326|349423|349426|349429|349430|349432|349433|349435|349436|349440|350426|378154|677462|679893|684854|882570|882571|882572|882573|882574|882575|882576|882577|882578|882579|882580|882581|882941", "text": "Autosomal dominant torsion dystonia 4" }, { - "baseId": "65655|65656|65656|139376|139376|139377|143144|143145|190170|205792|208626|213656|243558|260216|263148|263149|263149|263150|263151|263152|263153|263154|263155|263156|263157|263158|263159|263160|263161|263162|263163|263164|263165|263166|263167|263168|263169|263170|334439|334441|334442|334445|334448|334451|344317|344322|344323|344324|344325|344326|349423|349426|349429|349430|349432|349433|349435|349436|349440|350426|353527|378154|410718|446894|507188|533469|533480|573423|575063|613156|648514|648515|648516|677462|684854|689160|694516|786298|791961|798758|798759|848096|848097|882570|882571|882572|882573|882574|882575|882576|882577|882578|882579|882580|882581|882941|919899|919900|919901|938867", + "upstreamId": "65655|65656|65656|139376|139376|139377|143144|143145|190170|205792|208626|213656|243558|260216|263148|263149|263149|263150|263151|263152|263153|263154|263155|263156|263157|263158|263159|263160|263161|263162|263163|263164|263165|263166|263167|263168|263169|263170|334439|334441|334442|334445|334448|334451|344317|344322|344323|344324|344325|344326|349423|349426|349429|349430|349432|349433|349435|349436|349440|350426|353527|378154|410718|446894|507188|533469|533480|573423|575063|613156|648514|648515|648516|677462|684854|689160|694516|786298|791961|798758|798759|848096|848097|882570|882571|882572|882573|882574|882575|882576|882577|882578|882579|882580|882581|882941|919899|919900|919901|938867", "text": "Leukodystrophy, hypomyelinating, 6" }, { - "baseId": "65657|65658|65659|65660|65661|65662|152908|481226|481227|513247|970708", + "upstreamId": "65657|65658|65659|65660|65661|65662|152908|481226|481227|513247|970708", "text": "Hypomyelination with brainstem and spinal cord involvement and leg spasticity" }, { - "baseId": "65666|165821|395001|406786|626307|965964", + "upstreamId": "65666|165821|395001|406786|626307|965964", "text": "Polymicrogyria, bilateral temporooccipital" }, { - "baseId": "65676|65677|171812|237111|361361|361557|361558|433901|433903|433905|513386|513674|610177|613200|613202|626287|706009|706012|717547|717548|717555|729300|729304|729306|729309|743016|743022|743028|758172|780073|798774|800193|800194|800195|800196|800197|800198|800199|800200|982258|982259|982260|982261|982262|982263|982264|982265|982266|982267", + "upstreamId": "65676|65677|171812|237111|361361|361557|361558|433901|433903|433905|513386|513674|610177|613200|613202|626287|706009|706012|717547|717548|717555|729300|729304|729306|729309|743016|743022|743028|758172|780073|798774|800193|800194|800195|800196|800197|800198|800199|800200|982258|982259|982260|982261|982262|982263|982264|982265|982266|982267", "text": "Charcot-Marie-Tooth disease, type 4B3" }, { - "baseId": "65837", + "upstreamId": "65837", "text": "Carcinoma of male breast" }, { - "baseId": "67271|213656|243827|801185|805069|971289", + "upstreamId": "67271|213656|243827|801185|805069|971289", "text": "Cerebral palsy" }, { - "baseId": "67593|550737", + "upstreamId": "67593|550737", "text": "Neuroendocrine tumor of pancreas" }, { - "baseId": "70063", + "upstreamId": "70063", "text": "Breast and colorectal cancer" }, { - "baseId": "70461|70462|70463|70464|70467|409773|539068|540049|818151|919681|966800|966801|971057|971376|975894|977278", + "upstreamId": "70461|70462|70463|70464|70467|409773|539068|540049|818151|919681|966800|966801|971057|971376|975894|977278", "text": "Xerocytosis" }, { - "baseId": "70472|70473|70474|363796|438567|438613|453120|514231|514232|514233|514234|559136|631779|698279|709026|709027|709029|709030|734283|734284|748507|828548|923344|923345", + "upstreamId": "70472|70473|70474|363796|438567|438613|453120|514231|514232|514233|514234|559136|631779|698279|709026|709027|709029|709030|734283|734284|748507|828548|923344|923345", "text": "Adams-Oliver syndrome 4" }, { - "baseId": "70473|181457|200762|200763|200764|200765|200766|200767|200768|200769|200770|288886|288933|291887|291946|292011|497310", + "upstreamId": "70473|181457|200762|200763|200764|200765|200766|200767|200768|200769|200770|288886|288933|291887|291946|292011|497310", "text": "Adams-Oliver syndrome" }, { - "baseId": "70475|224853|224854|224855|224856|224857|224858|224859|433790|433795|445659|539068|590357|590358|626249|626250|818145|904913|962247|962248|966800|966801|975894", + "upstreamId": "70475|224853|224854|224855|224856|224857|224858|224859|433790|433795|445659|539068|590357|590358|626249|626250|818145|904913|962247|962248|966800|966801|975894", "text": "Lymphedema, hereditary, III" }, { - "baseId": "70481|133578|259981|415549|857631", + "upstreamId": "70481|133578|259981|415549|857631", "text": "Pre-B-cell acute lymphoblastic leukemia" }, { - "baseId": "70485|70486|70487", + "upstreamId": "70485|70486|70487", "text": "Xeroderma pigmentosum, type F/Cockayne syndrome" }, { - "baseId": "70488|962821", + "upstreamId": "70488|962821", "text": "Medullary cystic kidney disease 1" }, { - "baseId": "70489|70540|136848", + "upstreamId": "70489|70540|136848", "text": "King Denborough syndrome" }, { - "baseId": "70496|75585|622244|788884|792794", + "upstreamId": "70496|75585|622244|788884|792794", "text": "Autosomal recessive congenital ichthyosis 9" }, { - "baseId": "70497|70498|450990|518021", + "upstreamId": "70497|70498|450990|518021", "text": "Ciliary dyskinesia, primary, 21" }, { - "baseId": "70500", + "upstreamId": "70500", "text": "Mitral atresia disorder" }, { - "baseId": "70500", + "upstreamId": "70500", "text": "Aortic valve atresia (disease)" }, { - "baseId": "70500", + "upstreamId": "70500", "text": "Single Ventricle Defect" }, { - "baseId": "70500", + "upstreamId": "70500", "text": "Pulmonary atresia with ventricular septal defect" }, { - "baseId": "70500|303321|362061|677996|789091", + "upstreamId": "70500|303321|362061|677996|789091", "text": "Atrioventricular septal defect" }, { - "baseId": "70502|70503|70504|215769|361944|362521|520924|559833|560334|562990|562995|562996|691784", + "upstreamId": "70502|70503|70504|215769|361944|362521|520924|559833|560334|562990|562995|562996|691784", "text": "Infantile myofibromatosis 1" }, { - "baseId": "70502|70502|215769|251822|270125|270626|362365|362366|362367|362520|362521|363941|454742|454749|454815|454817|455307|455595|455600|455602|455604|520926|520927|521357|560213|633635|633636|633637|691784|691785|691786|691787|691788|691789|691790|695283|698920|698921|698922|698924|698927|698928|698929|698930|698932|698933|698934|698935|698937|698938|698939|709731|709732|721300|721301|721302|721305|734934|749343|749349|830537|830538|923948|923949|944491|944492|944493|954093|961572|961573|961574|961575|961576|961577", + "upstreamId": "70502|70502|215769|251822|270125|270626|362365|362366|362367|362520|362521|363941|454742|454749|454815|454817|455307|455595|455600|455602|455604|520926|520927|521357|560213|633635|633636|633637|691784|691785|691786|691787|691788|691789|691790|695283|698920|698921|698922|698924|698927|698928|698929|698930|698932|698933|698934|698935|698937|698938|698939|709731|709732|721300|721301|721302|721305|734934|749343|749349|830537|830538|923948|923949|944491|944492|944493|954093|961572|961573|961574|961575|961576|961577", "text": "Infantile myofibromatosis" }, { - "baseId": "70502|213767|251822|270125|270626|363941|454742|454749|454815|454817|455307|455595|455600|455602|455604|520924|520926|520927|521357|559833|560213|560334|562990|562995|562996|633635|633636|633637|691784|691785|691786|691787|691788|691789|691790|695283|698920|698921|698922|698924|698927|698928|698929|698930|698932|698933|698934|698935|698937|698938|698939|709731|709732|721300|721301|721302|721305|734934|749343|749349|830537|830538|923948|923949|944491|944492|944493|954093", + "upstreamId": "70502|213767|251822|270125|270626|363941|454742|454749|454815|454817|455307|455595|455600|455602|455604|520924|520926|520927|521357|559833|560213|560334|562990|562995|562996|633635|633636|633637|691784|691785|691786|691787|691788|691789|691790|695283|698920|698921|698922|698924|698927|698928|698929|698930|698932|698933|698934|698935|698937|698938|698939|709731|709732|721300|721301|721302|721305|734934|749343|749349|830537|830538|923948|923949|944491|944492|944493|954093", "text": "Kosaki overgrowth syndrome" }, { - "baseId": "70502|213768|251822|270125|270626|363941|454742|454749|454815|454817|455307|455595|455600|455602|455604|520924|520926|520927|521357|559833|560213|560334|562990|562995|562996|633635|633636|633637|691784|691785|691786|691787|691788|691789|691790|695283|698920|698921|698922|698924|698927|698928|698929|698930|698932|698933|698934|698935|698937|698938|698939|709731|709732|721300|721301|721302|721305|734934|749343|749349|830537|830538|923948|923949|944491|944492|944493|954093", + "upstreamId": "70502|213768|251822|270125|270626|363941|454742|454749|454815|454817|455307|455595|455600|455602|455604|520924|520926|520927|521357|559833|560213|560334|562990|562995|562996|633635|633636|633637|691784|691785|691786|691787|691788|691789|691790|695283|698920|698921|698922|698924|698927|698928|698929|698930|698932|698933|698934|698935|698937|698938|698939|709731|709732|721300|721301|721302|721305|734934|749343|749349|830537|830538|923948|923949|944491|944492|944493|954093", "text": "Premature aging syndrome, Penttinen type" }, { - "baseId": "70504|106815|361523|442109|442138|442159|442168|536981", + "upstreamId": "70504|106815|361523|442109|442138|442159|442168|536981", "text": "Infantile myofibromatosis 2" }, { - "baseId": "70510|211189|227133|227134|434403|434404", + "upstreamId": "70510|211189|227133|227134|434403|434404", "text": "Combined oxidative phosphorylation deficiency 39" }, { - "baseId": 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+ "upstreamId": "70511|70512|70513|70514|70515|70516|165482|165483|207729|236923|370452|370472|370964|370969|370970|370984|370987|371349|373178|407723|407724|407725|411572|425853|425854|433377|433378|433379|438414|441358|444534|444535|444536|459284|459291|459293|459296|459298|459302|459308|459310|459603|459607|459610|459681|459682|459688|459689|459692|459696|459698|459702|460175|460184|460186|460190|460192|460196|460197|460204|460206|502675|502680|502683|524688|524689|524930|524932|524933|525034|525037|525054|525056|525059|525214|525217|525230|525239|525241|552142|563317|563319|563322|563325|563327|564150|564152|564154|564158|564159|564164|564169|565987|565992|565994|569176|569180|569184|569186|577142|578480|578481|625198|626191|638401|638402|638403|638404|638405|638406|638407|638408|638409|638410|638411|638412|638413|638414|638415|638416|638417|638418|638419|638420|638421|638422|638423|638424|638425|638426|638427|638428|687548|687549|692704|692706|692707|692709|692711|695452|701091|712071|712072|723664|723665|737241|751838|767513|767517|790919|798622|836300|836301|836302|836303|836304|836305|836306|836307|836308|836309|836310|836311|836312|836313|836314|836315|836316|836317|836318|836319|836320|836321|836322|836323|836324|836325|836326|836327|851355|851357|904251|925637|925638|925639|925640|925641|925642|925643|925644|925645|925646|934829|934830|934831|934832|940943|946685|946686|946687|946688|955901|955902|955903|955904|955905|955906|970913", "text": "Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant" }, { - "baseId": "70519|70520|70521|491715|536008|802080|857414", + "upstreamId": "70519|70520|70521|491715|536008|802080|857414", "text": "Perrault syndrome 3" }, { - "baseId": "70521", + "upstreamId": "70521", "text": "Autosomal recessive hearing impairment with normal menstrual cycles" }, { - "baseId": "70522|70523|70524|200390|200391|229076|424645|424646|496733|612084|677416|677417|679207|679208|679210|857410|970767|980889|980890", + "upstreamId": "70522|70523|70524|200390|200391|229076|424645|424646|496733|612084|677416|677417|679207|679208|679210|857410|970767|980889|980890", "text": "Perrault syndrome 4" }, { - "baseId": "70522|188976|245209|496733|679206|679208|679209|679211|980894", + "upstreamId": "70522|188976|245209|496733|679206|679208|679209|679211|980894", "text": "Hydrops, lactic acidosis, and sideroblastic anemia" }, { - "baseId": "70529|70530|70531|70532|70533|70534|70535|70536|237498|237499", + "upstreamId": "70529|70530|70531|70532|70533|70534|70535|70536|237498|237499", "text": "Scalp-ear-nipple syndrome" }, { - "baseId": "70537", + "upstreamId": "70537", "text": "Mitochondrial complex 4 deficiency, nuclear type 11" }, { - "baseId": "70549|70550|249386|427633|447090|447182|447269|447275|515049|515063|515115|515116|515120|515164|515174|556592|614181|626790|626791|626792|626793|626794|626795|626796|626797|626798|626799|626800|626801|650584|650585|706668|706669|718187|718188|731691|731693|731694|745658|745659|761174|761176|761177|761179|761180|774368|774388|780313|780316|780317|780318|786976|786995|822682|822683|822684|822685|822686|822687|822688|822689|822690|822691|822692|822693|822694|921625|921626|930023|941437|952057|952058|952059|952060|952061|952062|952063|961922|977430|977431|977432|977433|977434|977435|977436|977437|977438|977439|977440|977441", + "upstreamId": "70549|70550|249386|427633|447090|447182|447269|447275|515049|515063|515115|515116|515120|515164|515174|556592|614181|626790|626791|626792|626793|626794|626795|626796|626797|626798|626799|626800|626801|650584|650585|706668|706669|718187|718188|731691|731693|731694|745658|745659|761174|761176|761177|761179|761180|774368|774388|780313|780316|780317|780318|786976|786995|822682|822683|822684|822685|822686|822687|822688|822689|822690|822691|822692|822693|822694|921625|921626|930023|941437|952057|952058|952059|952060|952061|952062|952063|961922|977430|977431|977432|977433|977434|977435|977436|977437|977438|977439|977440|977441", "text": "Severe congenital neutropenia 5, autosomal recessive" }, { - "baseId": "70553|70554|70555|70556|70557|70558|70559|132726|132727|132728|132729|237372|361215|361216|429708|482074|680054|860172|919583|971022|973037|975868", + "upstreamId": "70553|70554|70555|70556|70557|70558|70559|132726|132727|132728|132729|237372|361215|361216|429708|482074|680054|860172|919583|971022|973037|975868", "text": "Craniosynostosis 3" }, { - "baseId": "70564", + "upstreamId": "70564", "text": "Bone mineral density quantitative trait locus 17" }, { - "baseId": "70565|70565|70566|70567|70568|70569|215790|215791|410626|533147|623355|965237", + "upstreamId": "70565|70565|70566|70567|70568|70569|215790|215791|410626|533147|623355|965237", "text": "Craniosynostosis 4" }, { - "baseId": "70565|262701", + "upstreamId": "70565|262701", "text": "Chitayat syndrome" }, { - "baseId": "70572", + "upstreamId": "70572", "text": "Borrone di Rocco Crovato syndrome" }, { - "baseId": "70633|263633|361146|481389|966710|966711|966718|966719|966725|966727|966729", + "upstreamId": "70633|263633|361146|481389|966710|966711|966718|966719|966725|966727|966729", "text": "Polyhydramnios" }, { - "baseId": "70633|966711", + "upstreamId": "70633|966711", "text": "Intestinal obstruction" }, { - "baseId": "70810", + "upstreamId": "70810", "text": "Essential tremor" }, { - "baseId": "70810|720180", + "upstreamId": "70810|720180", "text": "Parkinson disease 21" }, { - "baseId": "70939|177557|207112|214177|214194|239335|239336|251350|251352|251361|251362|266978|267183|292529|292604|292623|292624|292625|292627|292629|293984|294001|297363|297381|297387|297399|297424|297439|297441|297442|297443|297444|297458|297459|620155|620156|620773|975780", + "upstreamId": "70939|177557|207112|214177|214194|239335|239336|251350|251352|251361|251362|266978|267183|292529|292604|292623|292624|292625|292627|292629|293984|294001|297363|297381|297387|297399|297424|297439|297441|297442|297443|297444|297458|297459|620155|620156|620773|975780", "text": "CC2D2A-Related Disorders" }, { - "baseId": "71217|71221|71232|620003|620723|626109", + "upstreamId": "71217|71221|71232|620003|620723|626109", "text": "POMGNT1-Related Disorders" }, { - "baseId": "71221|429593", + "upstreamId": "71221|429593", "text": "Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies" }, { - "baseId": "71256|620596|620887", + "upstreamId": "71256|620596|620887", "text": "MKS1-Related Disorders" }, { - "baseId": "71377|105746|265487|270185|514649|620459", + "upstreamId": "71377|105746|265487|270185|514649|620459", "text": "CEP290-Related Disorders" }, { - "baseId": "71435|71436|469336|470875|533484|571182|573483|705426|705427|728587|728588|938932", + "upstreamId": "71435|71436|469336|470875|533484|571182|573483|705426|705427|728587|728588|938932", "text": "Dowling-Degos disease 2" }, { - "baseId": "71437|71437|71439", + "upstreamId": "71437|71437|71439", "text": "Kenny-Caffey syndrome type 2" }, { - "baseId": "71437|71437|71438|71440|71441|71442|919369|970536", + "upstreamId": "71437|71437|71438|71440|71441|71442|919369|970536", "text": "Osteocraniostenosis" }, { - "baseId": "71452|364869|364882|447509|498222|513506|515479|515489|515595|515609|536141|536142|536143|536144|536145|536146|536147|536148|536149|536150|549875|549876|549877|556796|557165|558351|627402|627403|627404|627405|627406|690507|690508|695027|823498|823499|823500|930337|940621|961246", + "upstreamId": "71452|364869|364882|447509|498222|513506|515479|515489|515595|515609|536141|536142|536143|536144|536145|536146|536147|536148|536149|536150|549875|549876|549877|556796|557165|558351|627402|627403|627404|627405|627406|690507|690508|695027|823498|823499|823500|930337|940621|961246", "text": "Multiple mitochondrial dysfunctions syndrome 3" }, { - "baseId": "71460|409749|466083|466085|466835|466836|466846|467134|467136|467136|467143|486158|530355|530451|530453|530458|530463|530465|530468|530648|530649|530652|530656|530658|530663|530878|535755|535755|568436|568442|570568|570591|570593|613047|645078|645079|645080|645081|645082|652593|726854|726855|726856|740403|740404|740405|740406|755443|755444|776207|844429|844430|844431|844432|844433|844434|844435|844436|844437|852673|927986|927987|927988|927989|937649|937650|937651|940374|949617|949618|949619|949620|957905", + "upstreamId": "71460|409749|466083|466085|466835|466836|466846|467134|467136|467136|467143|486158|530355|530451|530453|530458|530463|530465|530468|530648|530649|530652|530656|530658|530663|530878|535755|535755|568436|568442|570568|570591|570593|613047|645078|645079|645080|645081|645082|652593|726854|726855|726856|740403|740404|740405|740406|755443|755444|776207|844429|844430|844431|844432|844433|844434|844435|844436|844437|852673|927986|927987|927988|927989|937649|937650|937651|940374|949617|949618|949619|949620|957905", "text": "Immunodeficiency 32b" }, { - "baseId": "71461|409749|466083|466085|466835|466836|466846|467134|467136|467143|486158|530355|530451|530453|530458|530463|530465|530468|530648|530649|530652|530656|530658|530663|530878|535755|568436|568442|570568|570591|570593|613047|645078|645079|645080|645081|645082|652593|726854|726855|726856|740403|740404|740405|740406|755443|755444|776207|844429|844430|844431|844432|844433|844434|844435|844436|844437|852673|927986|927987|927988|927989|937649|937650|937651|940374|949617|949618|949619|949620|957905", + "upstreamId": "71461|409749|466083|466085|466835|466836|466846|467134|467136|467143|486158|530355|530451|530453|530458|530463|530465|530468|530648|530649|530652|530656|530658|530663|530878|535755|568436|568442|570568|570591|570593|613047|645078|645079|645080|645081|645082|652593|726854|726855|726856|740403|740404|740405|740406|755443|755444|776207|844429|844430|844431|844432|844433|844434|844435|844436|844437|852673|927986|927987|927988|927989|937649|937650|937651|940374|949617|949618|949619|949620|957905", "text": "Immunodeficiency 32a" }, { - "baseId": "71463|71464|71465|96871|203228|203230|203241|203242|203250|614419", + "upstreamId": "71463|71464|71465|96871|203228|203230|203241|203242|203250|614419", "text": "Early infantile epileptic encephalopathy 16" }, { - "baseId": "71504|71505", + "upstreamId": "71504|71505", "text": "Fetal hemoglobin quantitative trait locus 6" }, { - "baseId": "71507|71508|71509|71510|431967|613480", + "upstreamId": "71507|71508|71509|71510|431967|613480", "text": "Precocious puberty, central, 2" }, { - "baseId": "71562|71563|134058|134059|205252|433389|455981|513274|522709|561181|635450|683843|683845|683846|686951|686952|686953|686954|722262|765995|782734|924580", + "upstreamId": "71562|71563|134058|134059|205252|433389|455981|513274|522709|561181|635450|683843|683845|683846|686951|686952|686953|686954|722262|765995|782734|924580", "text": "Primary pulmonary hypertension 3" }, { - "baseId": "75074|75075|75076|75077|75078|414373|450686|450694|450696|450786|450788|450789|450959|518067|518148|538347|557992|558342|560559|560561|560563|560565|583085|629782|629783|629784|629785|651013|691118|691119|781290|799296|799297|826135|826136|922684|922685|922686|922687|931271|942756", + "upstreamId": "75074|75075|75076|75077|75078|414373|450686|450694|450696|450786|450788|450789|450959|518067|518148|538347|557992|558342|560559|560561|560563|560565|583085|629782|629783|629784|629785|651013|691118|691119|781290|799296|799297|826135|826136|922684|922685|922686|922687|931271|942756", "text": "Primary pulmonary hypertension 4" }, { - "baseId": "75079|75080|75081|75082|75083|75084|414727|421163|442611|513007|515106|556915|556917|650523|974508", + "upstreamId": "75079|75080|75081|75082|75083|75084|414727|421163|442611|513007|515106|556915|556917|650523|974508", "text": "Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures" }, { - "baseId": "75085|75086|75087|75088|75089|190642|267606|359211|364354|364355|414726|421163|421163|442610|442611|513007|515106|556627|556915|556917|613455|626776|650523|655030|780306|818831|822665|822665|941428|941429|975853|983771|983772", + "upstreamId": "75085|75086|75087|75088|75089|190642|267606|359211|364354|364355|414726|421163|421163|442610|442611|513007|515106|556627|556915|556917|613455|626776|650523|655030|780306|818831|822665|822665|941428|941429|975853|983771|983772", "text": "Ehlers-Danlos syndrome, progeroid type, 2" }, { - "baseId": "75090|75091|75092|513007", + "upstreamId": "75090|75091|75092|513007", "text": "Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with fractures" }, { - "baseId": "75093|75096|125844|178911|181505|181508|181510|181511|181513|181514|181515|188134|194951|225852|228269|259632|263951|263954|354275|390822|446917|447226|498091|498105|551682|552492|556612|556953|626898|626899|626900|689631|761244|822785|822786|822787|850933|930058|964130", + "upstreamId": "75093|75096|125844|178911|181505|181508|181510|181511|181513|181514|181515|188134|194951|225852|228269|259632|263951|263954|354275|390822|446917|447226|498091|498105|551682|552492|556612|556953|626898|626899|626900|689631|761244|822785|822786|822787|850933|930058|964130", "text": "Noonan syndrome 8" }, { - "baseId": "75097|75098|251410|251411|251413|251414|251420|251422|251423|251425|263497|263498|362142|369076|428293|440839|440840|440842|440843|440845|440846|440847|443602|453071|453075|453079|453080|453082|453084|453089|453093|453102|453107|453109|453355|453357|453359|453363|453365|453458|453464|453467|453471|453473|453475|453477|453481|453848|453851|453857|453860|453863|453864|513545|519830|519832|519834|519841|519843|519845|519849|519856|519860|519862|519870|520081|520082|520086|520087|520097|520099|520150|520151|538981|559639|559641|559643|559645|559798|559800|559802|559804|561977|561978|561982|563610|563614|563623|563634|563636|608949|632097|632098|632099|632100|632101|632102|632103|632104|632105|632106|632107|632108|632109|632110|632111|632112|632113|632114|632115|632116|651168|686514|691538|691539|691540|691541|691543|695225|695226|695228|698450|698451|698452|698453|720861|720863|734543|734544|734545|734547|734550|748838|748842|764403|777486|781911|788771|789365|819466|828970|828971|828972|828973|828974|828975|828976|828977|828978|828979|828980|828981|828982|828983|828984|828985|828986|828987|828988|828989|828990|850976|850978|850980|851116|851118|923470|923471|923472|923473|923474|923475|923476|923477|923478|932252|932253|932254|932255|932256|932257|932258|932259|940777|940778|940779|943908|943909|943910|943911|943912|953726|953727|953728|953729|953730|953731|953732|953733|959719", + "upstreamId": "75097|75098|251410|251411|251413|251414|251420|251422|251423|251425|263497|263498|362142|369076|428293|440839|440840|440842|440843|440845|440846|440847|443602|453071|453075|453079|453080|453082|453084|453089|453093|453102|453107|453109|453355|453357|453359|453363|453365|453458|453464|453467|453471|453473|453475|453477|453481|453848|453851|453857|453860|453863|453864|513545|519830|519832|519834|519841|519843|519845|519849|519856|519860|519862|519870|520081|520082|520086|520087|520097|520099|520150|520151|538981|559639|559641|559643|559645|559798|559800|559802|559804|561977|561978|561982|563610|563614|563623|563634|563636|608949|632097|632098|632099|632100|632101|632102|632103|632104|632105|632106|632107|632108|632109|632110|632111|632112|632113|632114|632115|632116|651168|686514|691538|691539|691540|691541|691543|695225|695226|695228|698450|698451|698452|698453|720861|720863|734543|734544|734545|734547|734550|748838|748842|764403|777486|781911|788771|789365|819466|828970|828971|828972|828973|828974|828975|828976|828977|828978|828979|828980|828981|828982|828983|828984|828985|828986|828987|828988|828989|828990|850976|850978|850980|851116|851118|923470|923471|923472|923473|923474|923475|923476|923477|923478|932252|932253|932254|932255|932256|932257|932258|932259|940777|940778|940779|943908|943909|943910|943911|943912|953726|953727|953728|953729|953730|953731|953732|953733|959719", "text": "Limb-girdle muscular dystrophy, type 2S" }, { - "baseId": "75099|75100|75101|75102|75103|251123|251124|251125|251126|251127|251128|251129|251130|264149|367548|367551|367577|367580|368592|406303|406304|440783|440784|452403|452406|452412|452414|452602|452604|452605|452610|452707|452708|452716|452911|452921|452922|452928|452936|452940|452949|519284|519290|519295|519335|519338|519475|519489|519492|519541|519545|519547|536648|558990|558992|558994|558996|558998|559503|559505|559507|559509|559511|559513|561567|561569|561572|562936|562943|562948|562955|562959|622329|631403|631404|631405|631406|631407|631408|631409|631410|631411|631412|631413|631414|631415|631416|631417|631418|631419|631420|631421|631422|631423|631424|651070|655550|677314|691414|695203|698089|698091|720440|748264|792737|798533|828145|828146|828147|828148|828149|828150|828151|828152|828153|828154|828155|828156|828157|828158|828159|828160|828161|828162|923199|923200|923201|923202|923203|923204|923205|923206|923207|923208|923209|931953|931954|943555|943556|943557|943558|943559|943560|943561|943562|953482|953483|953484", + "upstreamId": "75099|75100|75101|75102|75103|251123|251124|251125|251126|251127|251128|251129|251130|264149|367548|367551|367577|367580|368592|406303|406304|440783|440784|452403|452406|452412|452414|452602|452604|452605|452610|452707|452708|452716|452911|452921|452922|452928|452936|452940|452949|519284|519290|519295|519335|519338|519475|519489|519492|519541|519545|519547|536648|558990|558992|558994|558996|558998|559503|559505|559507|559509|559511|559513|561567|561569|561572|562936|562943|562948|562955|562959|622329|631403|631404|631405|631406|631407|631408|631409|631410|631411|631412|631413|631414|631415|631416|631417|631418|631419|631420|631421|631422|631423|631424|651070|655550|677314|691414|695203|698089|698091|720440|748264|792737|798533|828145|828146|828147|828148|828149|828150|828151|828152|828153|828154|828155|828156|828157|828158|828159|828160|828161|828162|923199|923200|923201|923202|923203|923204|923205|923206|923207|923208|923209|931953|931954|943555|943556|943557|943558|943559|943560|943561|943562|953482|953483|953484", "text": "Nemaline myopathy 8" }, { - "baseId": "75106|75107|75108|75109|75110|241570", + "upstreamId": "75106|75107|75108|75109|75110|241570", "text": "Hereditary spastic paraplegia 26" }, { - "baseId": "75117|75118|75119|75120|626253", + "upstreamId": "75117|75118|75119|75120|626253", "text": "Multiple system atrophy" }, { - "baseId": "75121|75121|75122|75124|75125|75126|75127|75128|227736|251232|251234|251235|272983|367329|367681|367682|367706|443498|452534|452535|452838|452840|452856|452860|453088|453092|519429|519431|519621|519624|519628|519631|519678|519680|559048|559050|559052|559054|559056|559058|559580|559582|559584|561685|561686|563098|563100|563104|626413|631575|631576|631577|631578|631579|631580|631581|631582|631583|631584|631585|631586|651209|655561|691451|720531|730224|744023|774861|777418|781744|828341|828342|828343|828344|828345|828346|828347|828348|828349|828350|828351|851059|923268|923269|923270|923271|932019|932020|932021|932022|943624|943625|953543|953544|960520", + "upstreamId": "75121|75121|75122|75124|75125|75126|75127|75128|227736|251232|251234|251235|272983|367329|367681|367682|367706|443498|452534|452535|452838|452840|452856|452860|453088|453092|519429|519431|519621|519624|519628|519631|519678|519680|559048|559050|559052|559054|559056|559058|559580|559582|559584|561685|561686|563098|563100|563104|626413|631575|631576|631577|631578|631579|631580|631581|631582|631583|631584|631585|631586|651209|655561|691451|720531|730224|744023|774861|777418|781744|828341|828342|828343|828344|828345|828346|828347|828348|828349|828350|828351|851059|923268|923269|923270|923271|932019|932020|932021|932022|943624|943625|953543|953544|960520", "text": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 14" }, { - "baseId": "75121|75121|75123|75124|75124|75125|75125|75126|75126|75127|75127|75128|75128|227736|227736|227737|227738|251232|251234|251235|272983|367329|367681|367682|367706|443498|452534|452535|452838|452840|452856|452860|453088|453092|519429|519431|519621|519624|519628|519631|519678|519680|559048|559050|559052|559054|559056|559058|559580|559582|559584|561685|561686|563098|563100|563104|626413|626413|631575|631576|631577|631578|631579|631580|631581|631582|631583|631584|631585|631586|651209|655561|691451|720531|730224|744023|774861|777418|781744|828341|828342|828343|828344|828345|828346|828347|828348|828349|828350|828351|851059|918843|923268|923269|923270|923271|932019|932020|932021|932022|943624|943625|953543|953544|960520", + "upstreamId": "75121|75121|75123|75124|75124|75125|75125|75126|75126|75127|75127|75128|75128|227736|227736|227737|227738|251232|251234|251235|272983|367329|367681|367682|367706|443498|452534|452535|452838|452840|452856|452860|453088|453092|519429|519431|519621|519624|519628|519631|519678|519680|559048|559050|559052|559054|559056|559058|559580|559582|559584|561685|561686|563098|563100|563104|626413|626413|631575|631576|631577|631578|631579|631580|631581|631582|631583|631584|631585|631586|651209|655561|691451|720531|730224|744023|774861|777418|781744|828341|828342|828343|828344|828345|828346|828347|828348|828349|828350|828351|851059|918843|923268|923269|923270|923271|932019|932020|932021|932022|943624|943625|953543|953544|960520", "text": "Muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 14" }, { - "baseId": "75121|75124|75124|75125|75125|75126|75126|75127|75128|227736|251232|251234|251235|272983|367329|367681|367682|367706|443498|452534|452535|452838|452840|452856|452860|453088|453092|519429|519431|519621|519624|519628|519631|519678|519680|559048|559050|559052|559054|559056|559058|559580|559582|559584|561685|561686|563098|563100|563104|626413|631575|631576|631577|631578|631579|631580|631581|631582|631583|631584|631585|631586|651209|655561|691451|720531|730224|744023|774861|777418|781744|828341|828342|828343|828344|828345|828346|828347|828348|828349|828350|828351|851059|923268|923269|923270|923271|932019|932020|932021|932022|943624|943625|953543|953544|960520", + "upstreamId": "75121|75124|75124|75125|75125|75126|75126|75127|75128|227736|251232|251234|251235|272983|367329|367681|367682|367706|443498|452534|452535|452838|452840|452856|452860|453088|453092|519429|519431|519621|519624|519628|519631|519678|519680|559048|559050|559052|559054|559056|559058|559580|559582|559584|561685|561686|563098|563100|563104|626413|631575|631576|631577|631578|631579|631580|631581|631582|631583|631584|631585|631586|651209|655561|691451|720531|730224|744023|774861|777418|781744|828341|828342|828343|828344|828345|828346|828347|828348|828349|828350|828351|851059|923268|923269|923270|923271|932019|932020|932021|932022|943624|943625|953543|953544|960520", "text": "Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type b, 14" }, { - "baseId": "75130", + "upstreamId": "75130", "text": "Autosomal recessive syndrome of syndactyly, undescended testes and central nervous system defects" }, { - "baseId": "75133|75134|429677|434110|434111", + "upstreamId": "75133|75134|429677|434110|434111", "text": "Albinism, oculocutaneous, type VI" }, { - "baseId": "75236|75237|683217", + "upstreamId": "75236|75237|683217", "text": "Hypocalciuric hypercalcemia, familial, type II" }, { - "baseId": "75238|75239|75240|75241|165722", + "upstreamId": "75238|75239|75240|75241|165722", "text": "Hypocalcemia, autosomal dominant 2" }, { - "baseId": "75250|75251|75252|75253|75254|205406|254263|254264|254266|254267|254269|254270|254271|260003|363854|413317|429281|566100|579733|579750|579984|640365|701925|738190|798644|935712", + "upstreamId": "75250|75251|75252|75253|75254|205406|254263|254264|254266|254267|254269|254270|254271|260003|363854|413317|429281|566100|579733|579750|579984|640365|701925|738190|798644|935712", "text": "Ceroid lipofuscinosis, neuronal, 13" }, { - "baseId": "75256|378125|413818|470653|470654|471439|471440|472115|534396|534535|534697|534782|534787|535125|572390|573445|574449|574450|575382|649932|649933|649934|649935|689454|690268|798262|920447|929673|929674|939541|939542|939543|951721|951722", + "upstreamId": "75256|378125|413818|470653|470654|471439|471440|472115|534396|534535|534697|534782|534787|535125|572390|573445|574449|574450|575382|649932|649933|649934|649935|689454|690268|798262|920447|929673|929674|939541|939542|939543|951721|951722", "text": "Charcot-Marie-Tooth disease, X-linked dominant, 6" }, { - "baseId": "75262|342541|553398", + "upstreamId": "75262|342541|553398", "text": "Lethal congenital contracture syndrome 5" }, { - "baseId": "75270", + "upstreamId": "75270", "text": "Generalized epilepsy with febrile seizures plus 3" }, { - "baseId": "75270|201880|201889|201889|918941|964661", + "upstreamId": "75270|201880|201889|201889|918941|964661", "text": "Developmental and epileptic encephalopathy, 74" }, { - "baseId": "75272|75273|75274|75275|75276|75277|97526|97527|97528|205288|208237|208238|215118|215119|215122|215123|225869|225877|242175|242176|242177|242178|242179|242180|242181|242182|247110|255441|255444|255448|255449|264750|360144|360145|361633|373822|373831|373836|373838|373846|373848|373849|373867|373870|373880|373894|374539|374547|374560|374563|374576|374577|374897|374899|374907|374908|374911|374920|374930|374935|374939|374940|374947|374963|376853|376858|376859|376883|376895|376897|376901|376919|376922|376935|376951|376953|376954|376965|376966|376967|400481|400484|400629|400639|400642|401039|401047|401309|401311|409398|409412|409415|409416|409419|409423|409425|409429|409431|409434|413410|413411|413413|422064|422065|426142|445475|463954|464755|464759|464763|464771|464779|464785|464798|465358|465375|465382|465502|465506|465507|465511|465512|465517|465518|465618|465619|465623|465627|465629|465633|465634|465636|465640|465644|482084|505322|505371|505536|505540|505564|505567|505934|505996|506016|506024|506025|512163|512164|512165|512167|514683|529208|529211|529224|529229|529237|529238|529243|529537|529540|529541|529817|529821|529822|529828|538447|552185|552186|552187|567444|567450|567452|567456|569356|569357|569360|569363|569367|569371|569743|569745|569762|573127|573641|573642|573643|577415|578523|580044|580060|580257|611420|614406|614407|625815|643731|643732|643733|643734|643735|643736|643737|643738|643739|643740|643741|643742|643743|643744|643745|643746|643747|643748|643749|643750|643751|643752|643753|643754|643755|652599|652601|652788|652790|652792|656325|682862|684569|684570|688514|688516|688517|693779|695671|754797|760429|788007|791516|791517|791518|791519|797225|798693|800671|800672|802006|802007|802008|802009|804864|818313|820752|820753|820754|820755|820756|822101|822102|822103|822104|822105|822106|822107|822108|822109|822110|822111|822112|842909|842910|842911|842912|842913|842914|842915|842916|842917|842918|842919|842920|842921|842922|842923|842924|842925|842926|842927|842928|842929|842930|842931|842932|842933|842934|842935|842936|842937|842938|842939|842940|842941|842942|852083|919603|919604|920349|920350|927498|927499|927500|927501|927502|927503|927504|927505|927506|927507|927508|927509|927510|927511|927512|927513|937144|937145|937146|937147|937148|937149|937150|937151|937152|937153|937154|937155|937156|937157|937158|937159|937160|940336|941104|949108|949109|949110|949111|949112|949113|949114|949115|949116|949117|949118|949119|957570|957571|957572|957573|960127|961621|962865|962870|964432|964433|964434|964435|964436|964682|970506|971032|971033|971034|971035|971036|972830", + "upstreamId": 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"text": "Epileptic encephalopathy, childhood-onset" }, { - "baseId": 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+ "upstreamId": "75284|75285|75286|75287|75288|215209|221095|221096|228413|228414|228415|228416|228418|228420|228422|228426|228427|228428|228429|228430|228431|228432|228433|228434|228435|228436|228437|228438|228439|228444|228445|228446|228447|228448|228450|228451|228452|228453|228454|228455|228457|228459|228461|228462|228465|228466|228467|236958|238267|238269|238270|238271|238272|238273|238274|238275|238276|238278|238279|359261|359349|359356|365033|365036|365129|365226|365233|365235|365238|391167|391170|391176|391182|391187|391189|391192|391195|391196|391197|391199|391207|391209|391230|391232|391233|391237|391240|391323|391327|391328|391330|391333|391334|391340|391341|405162|405163|414795|414796|421241|425363|425366|442829|442831|446930|447765|447766|447768|447770|447823|447830|447834|447838|447839|447846|447851|447857|447863|447867|447997|447999|448002|448008|448009|448011|448012|448016|448019|448074|448076|448093|448096|448102|448124|448125|448135|448137|448142|448146|448154|448156|448159|448160|448162|480675|480677|496162|498401|498402|498414|498417|498435|498442|498453|498471|498478|498624|498631|498653|515772|515825|515827|515830|515834|515836|515838|515854|515861|515863|515864|515865|515866|515867|515868|515873|515875|515876|515921|515922|515933|515948|515950|515952|515958|536589|556875|557035|557037|557039|557041|557043|557256|557258|557260|557289|557291|557303|557305|557307|557309|558473|558487|558489|558491|558493|627744|627745|627746|627747|627748|627754|627782|627783|627784|627785|627786|627787|627788|627789|627790|627791|627792|627793|627794|627795|627796|627797|627798|627799|627800|627801|627802|627803|627804|627805|627806|627807|650599|650647|683321|683324|683325|683326|685711|685712|685718|685719|685720|685725|685726|685727|685729|690588|690589|690590|695048|746437|758999|761881|761889|777106|780674|818823|818960|818961|818962|818965|823879|823880|823899|823900|823901|823902|823903|823904|823905|823906|823907|823908|823909|823910|823911|823912|823913|823914|823915|823916|823917|823918|823919|823920|823921|823922|823923|823924|823925|850771|851299|918632|918633|921988|921999|922000|922001|922002|922003|922004|930463|930473|930474|930475|930476|930477|930478|930479|930480|940631|941912|941913|941914|941918|941919|941920|941921|941922|941923|941924|941925|941926|952387|952388|952393|952394|952395|952396|952397|952398|952399", "text": "Left ventricular noncompaction 8" }, { - "baseId": "75287|75288|75289", + "upstreamId": "75287|75288|75289", "text": "Dilated cardiomyopathy 1LL" }, { - "baseId": "75292|75293|226957|230649|344048|431553|682863|682863", + "upstreamId": "75292|75293|226957|230649|344048|431553|682863|682863", "text": "Deafness, autosomal recessive 89" }, { - "baseId": "75294|75295|227691|227692|612143", + "upstreamId": "75294|75295|227691|227692|612143", "text": "Cone-rod dystrophy 18" }, { - "baseId": "75299|75300|75301|75301|75302|75303|131985|131986|131987|165812|165813|168532|168533|168534|168535|205745|359705|359705|363137|428463|433821|455054|455232|455235|455691|455694|455697|455946|521519|521583|521589|521590|521845|538987|560361|560363|560365|563199|565168|576118|612709|614289|633995|633996|633997|633998|651333|721506|735163|749563|749564|759604|765179|765180|765182|765185|779323|782328|815949|830918|830919|830920|830921|830922|830923|830924|830925|830926|830927|830928|830929|830930|830931|830932|830933|830934|852216|917444|924094|924095|924096|932938|932939|932940|940007|944643|954185|954186|954187|959770|964660", + "upstreamId": "75299|75300|75301|75301|75302|75303|131985|131986|131987|165812|165813|168532|168533|168534|168535|205745|359705|359705|363137|428463|433821|455054|455232|455235|455691|455694|455697|455946|521519|521583|521589|521590|521845|538987|560361|560363|560365|563199|565168|576118|612709|614289|633995|633996|633997|633998|651333|721506|735163|749563|749564|759604|765179|765180|765182|765185|779323|782328|815949|830918|830919|830920|830921|830922|830923|830924|830925|830926|830927|830928|830929|830930|830931|830932|830933|830934|852216|917444|924094|924095|924096|932938|932939|932940|940007|944643|954185|954186|954187|959770|964660", "text": "SHORT syndrome" }, { - "baseId": "75301|75301|165812|165812|165813|165813|168532|168534|168535|359705|359705|363137|428463|433821|440012|440013|440014|440015|455054|455232|455235|455691|455694|455697|455946|521519|521583|521589|521590|521845|560361|560363|560365|563199|565168|576118|612709|614289|633995|633996|633997|633998|651333|721506|735163|749563|749564|759604|765179|765180|765182|765185|779323|782328|815949|830918|830919|830920|830921|830922|830923|830924|830925|830926|830927|830928|830929|830930|830931|830932|830933|830934|852216|918977|924094|924095|924096|932938|932939|932940|940007|944643|954185|954186|954187|959770|970813", + "upstreamId": "75301|75301|165812|165812|165813|165813|168532|168534|168535|359705|359705|363137|428463|433821|440012|440013|440014|440015|455054|455232|455235|455691|455694|455697|455946|521519|521583|521589|521590|521845|560361|560363|560365|563199|565168|576118|612709|614289|633995|633996|633997|633998|651333|721506|735163|749563|749564|759604|765179|765180|765182|765185|779323|782328|815949|830918|830919|830920|830921|830922|830923|830924|830925|830926|830927|830928|830929|830930|830931|830932|830933|830934|852216|918977|924094|924095|924096|932938|932939|932940|940007|944643|954185|954186|954187|959770|970813", "text": "Immunodeficiency 36" }, { - "baseId": "75311|75312|75315|189324|189325|227341|241059|241060|398046|398052|398075|398414|398510|408276|461231|461723|503158|503729|504078|525941|570312|639738|687711|838022|926135|935404|947335|956398", + "upstreamId": "75311|75312|75315|189324|189325|227341|241059|241060|398046|398052|398075|398414|398510|408276|461231|461723|503158|503729|504078|525941|570312|639738|687711|838022|926135|935404|947335|956398", "text": "Atrial fibrillation, familial, 14" }, { - "baseId": "75314|222828|222834|227197|243390|243394|243398|243403|243424|243440|243446|243490|243520|245146|403363|403468|403503|403533|403609|403803|403830|403844|403915|404005|410706|432965|469114|469199|471212|479908|479969|573352|575025|919892|920412|983654", + "upstreamId": "75314|222828|222834|227197|243390|243394|243398|243403|243424|243440|243446|243490|243520|245146|403363|403468|403503|403533|403609|403803|403830|403844|403915|404005|410706|432965|469114|469199|471212|479908|479969|573352|575025|919892|920412|983654", "text": "Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome" }, { - "baseId": 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+ "upstreamId": 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"text": "Charcot-Marie-Tooth disease, recessive intermediate c" }, { - "baseId": "75321|75322|75323|75324|75325|253634|253636|253638|253639|253640|253641|253642|253647|253650|253651|253652|253653|253654|371440|459508|459512|459514|459517|459752|459754|459770|459779|459984|459985|460401|460407|460415|460418|524842|525073|525218|525224|525225|525226|525380|563458|564377|564381|566089|569347|569359|569366|569375|638607|638608|638609|638610|638611|652232|692747|701116|701117|701118|701119|701121|701122|701123|701124|723693|723695|737271|737272|751873|836482|836483|836484|836485|925704|934884|934885|940162|946753|946754|946755|946756|955948|955949|983823|983824", + "upstreamId": "75321|75322|75323|75324|75325|253634|253636|253638|253639|253640|253641|253642|253647|253650|253651|253652|253653|253654|371440|459508|459512|459514|459517|459752|459754|459770|459779|459984|459985|460401|460407|460415|460418|524842|525073|525218|525224|525225|525226|525380|563458|564377|564381|566089|569347|569359|569366|569375|638607|638608|638609|638610|638611|652232|692747|701116|701117|701118|701119|701121|701122|701123|701124|723693|723695|737271|737272|751873|836482|836483|836484|836485|925704|934884|934885|940162|946753|946754|946755|946756|955948|955949|983823|983824", "text": "Nephronophthisis 16" }, { - "baseId": "75332|75334|192432|314761|314779|314781|314801|314805|321476|321487|321489|321501|327622|327637|327642|327651|328668|328736|328739|429283|493811|576143|576144|611367|868688|868689|868690|868691", + "upstreamId": "75332|75334|192432|314761|314779|314781|314801|314805|321476|321487|321489|321501|327622|327637|327642|327651|328668|328736|328739|429283|493811|576143|576144|611367|868688|868689|868690|868691", "text": "Spinocerebellar ataxia, autosomal recessive 14" }, { - "baseId": "75335", + "upstreamId": "75335", "text": "T-cell receptor alpha/beta deficiency" }, { - "baseId": "75582|405018|405020|439204|447445|447446|447447|447453|447460|447462|447467|447468|447470|447563|447567|447570|447573|447574|447576|447584|447686|447689|447691|447694|447695|447696|447698|447701|447703|447704|447705|447709|447733|447735|447737|447739|447741|447744|447748|447758|447759|513239|515407|515494|515496|515501|515503|515505|515508|515509|515510|515511|515520|515559|515560|556760|556762|556764|556766|556799|556801|556803|556805|556844|557118|557126|557127|557129|557131|558329|558331|558333|627293|627294|627295|627296|627297|627298|627299|627300|627301|627302|627303|627304|627305|627306|627307|627308|627309|627310|627311|627312|650610|650675|690469|696411|696412|696413|696414|707018|707019|707020|729955|732035|732036|732038|732042|746014|746016|746017|758887|761484|761485|789914|794548|823251|823252|823253|823254|823255|823256|823257|823258|823259|823260|823261|823262|823263|823264|823265|823266|823267|823268|823269|823270|823271|850957|921810|921811|921812|921813|921814|930248|930249|930250|930251|939790|939791|941664|941665|941666|941667|941668|952218|952219|952220", + "upstreamId": "75582|405018|405020|439204|447445|447446|447447|447453|447460|447462|447467|447468|447470|447563|447567|447570|447573|447574|447576|447584|447686|447689|447691|447694|447695|447696|447698|447701|447703|447704|447705|447709|447733|447735|447737|447739|447741|447744|447748|447758|447759|513239|515407|515494|515496|515501|515503|515505|515508|515509|515510|515511|515520|515559|515560|556760|556762|556764|556766|556799|556801|556803|556805|556844|557118|557126|557127|557129|557131|558329|558331|558333|627293|627294|627295|627296|627297|627298|627299|627300|627301|627302|627303|627304|627305|627306|627307|627308|627309|627310|627311|627312|650610|650675|690469|696411|696412|696413|696414|707018|707019|707020|729955|732035|732036|732038|732042|746014|746016|746017|758887|761484|761485|789914|794548|823251|823252|823253|823254|823255|823256|823257|823258|823259|823260|823261|823262|823263|823264|823265|823266|823267|823268|823269|823270|823271|850957|921810|921811|921812|921813|921814|930248|930249|930250|930251|939790|939791|941664|941665|941666|941667|941668|952218|952219|952220", "text": "Epilepsy, familial adult myoclonic, 5" }, { - "baseId": "75586", + "upstreamId": "75586", "text": "Craniometaphyseal dysplasia, autosomal recessive" }, { - "baseId": "75588|576098", + "upstreamId": "75588|576098", "text": "Combined oxidative phosphorylation deficiency 16" }, { - "baseId": "75589|75590|790172|861331", + "upstreamId": "75589|75590|790172|861331", "text": "Amyotrophic lateral sclerosis 19" }, { - "baseId": "75600|75601|75602|204484", + "upstreamId": "75600|75601|75602|204484", "text": "Dyschromatosis universalis hereditaria 3" }, { - "baseId": "75603|152912|152913|227449|247178|247179|364044|404842|404842|434678|446250|471394|495875|533546|537659|538491|539098|573531|573549|575107|575108|611353|648717|648718|648719|717002|717003|717004|717005|728680|728681|757548|757549|848429|971143", + "upstreamId": "75603|152912|152913|227449|247178|247179|364044|404842|404842|434678|446250|471394|495875|533546|537659|538491|539098|573531|573549|575107|575108|611353|648717|648718|648719|717002|717003|717004|717005|728680|728681|757548|757549|848429|971143", "text": "Multiple congenital anomalies-hypotonia-seizures syndrome 3" }, { - "baseId": "75604|404842|538491|539414|590510|966062", + "upstreamId": "75604|404842|538491|539414|590510|966062", "text": "Paroxysmal nocturnal hemoglobinuria 2" }, { - "baseId": "75616|512191|512192|512193|512194|512195|552313|552314|552315|622126|622127|816486|861581|964873|970374|970375", + "upstreamId": "75616|512191|512192|512193|512194|512195|552313|552314|552315|622126|622127|816486|861581|964873|970374|970375", "text": "Beaulieu-Boycott-Innes syndrome" }, { - "baseId": "75617", + "upstreamId": "75617", "text": "Susceptibility to leprosy and multibacillary leprosy" }, { - "baseId": "76319|76320|165517|165518|165519|389926|459570|459585|459587|459814|459818|459819|459822|459823|459826|459828|460456|460466|460468|503239|525107|525111|525113|525116|525243|525249|525430|525432|525433|525434|525435|563512|563515|566098|566116|566121|569430|569440|638656|638657|638658|638659|638660|638661|638662|638663|638664|638665|638666|638667|638668|638669|638670|638671|638672|652303|712128|723733|723734|737301|737303|737305|737307|744575|751912|751914|751915|767589|767590|767591|767593|777802|790935|836549|836550|836551|836552|836553|836554|836555|836556|836557|836558|836559|836560|836561|836562|836563|859779|925723|934923|934924|934925|940948|940949|946784|946785|946786|946787|946788|946789|946790|946791|955965|955966|955967|960710|966159|970918|981680", + "upstreamId": "76319|76320|165517|165518|165519|389926|459570|459585|459587|459814|459818|459819|459822|459823|459826|459828|460456|460466|460468|503239|525107|525111|525113|525116|525243|525249|525430|525432|525433|525434|525435|563512|563515|566098|566116|566121|569430|569440|638656|638657|638658|638659|638660|638661|638662|638663|638664|638665|638666|638667|638668|638669|638670|638671|638672|652303|712128|723733|723734|737301|737303|737305|737307|744575|751912|751914|751915|767589|767590|767591|767593|777802|790935|836549|836550|836551|836552|836553|836554|836555|836556|836557|836558|836559|836560|836561|836562|836563|859779|925723|934923|934924|934925|940948|940949|946784|946785|946786|946787|946788|946789|946790|946791|955965|955966|955967|960710|966159|970918|981680", "text": "Common variable immunodeficiency 10" }, { - "baseId": "76321|920031", + "upstreamId": "76321|920031", "text": "Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia" }, { - "baseId": "76324|76325", + "upstreamId": "76324|76325", "text": "Spermatogenic failure 12" }, { - "baseId": "76330|76331|76332|802219|966001", + "upstreamId": "76330|76331|76332|802219|966001", "text": "Cortical dysplasia, complex, with other brain malformations 4" }, { - "baseId": "76333|76334|428443|514284|575489|788782|918976", + "upstreamId": "76333|76334|428443|514284|575489|788782|918976", "text": "Cortical dysplasia, complex, with other brain malformations 3" }, { - "baseId": "76335|150453|626023|626024|626115|920159|965957", + "upstreamId": "76335|150453|626023|626024|626115|920159|965957", "text": "Cortical dysplasia, complex, with other brain malformations 2" }, { - "baseId": "76337|208006", + "upstreamId": "76337|208006", "text": "Primary autosomal recessive microcephaly 11" }, { - "baseId": "76337|181398|181404|181422|181442|181443|181462|181468", + "upstreamId": "76337|181398|181404|181422|181442|181443|181462|181468", "text": "Primary microcephaly" }, { - "baseId": "76339|188878|195791|483111|483112|483113|483114|483115|483116|483117|483118|626252|962792", + "upstreamId": "76339|188878|195791|483111|483112|483113|483114|483115|483116|483117|483118|626252|962792", "text": "Renal-hepatic-pancreatic dysplasia 2" }, { - "baseId": "76340|361068|861044|861045|861046|919939|919940", + "upstreamId": "76340|361068|861044|861045|861046|919939|919940", "text": "Glaucoma, primary closed-angle" }, { - "baseId": "76347|76348", + "upstreamId": "76347|76348", "text": "Dyskeratosis congenita, autosomal dominant, 4" }, { - "baseId": "76352|94266|94267|482036|512042|513325|513326|513615|672265|672266|672267|672268|672269|672270|672271|672272|672273|672274|672275|672304|672305|713805|788872|788873|802182|858748|903596|903672|919475|919476|961309", + "upstreamId": "76352|94266|94267|482036|512042|513325|513326|513615|672265|672266|672267|672268|672269|672270|672271|672272|672273|672274|672275|672304|672305|713805|788872|788873|802182|858748|903596|903672|919475|919476|961309", "text": "Hypotonia, infantile, with psychomotor retardation and characteristic facies 1" }, { - "baseId": "76354", + "upstreamId": "76354", "text": "Myopia 22, autosomal dominant" }, { - "baseId": "76368|624860", + "upstreamId": "76368|624860", "text": "Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3" }, { - "baseId": "76369|76370", + "upstreamId": "76369|76370", "text": "Amyotrophic lateral sclerosis 20" }, { - "baseId": "76371|252783|252784|252785|456681|457114|457125|457301|522884|522885|523021|523261|523264|564276|636094|651725|651731|692218|692219|692220|692222|695362|700021|744331|766244|796027|819866|852084|955136", + "upstreamId": "76371|252783|252784|252785|456681|457114|457125|457301|522884|522885|523021|523261|523264|564276|636094|651725|651731|692218|692219|692220|692222|695362|700021|744331|766244|796027|819866|852084|955136", "text": "Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2" }, { - "baseId": "76372|790778|790779", + "upstreamId": "76372|790778|790779", "text": "Mitochondrial complex 1 deficiency, nuclear type 24" }, { - "baseId": "76376|76377|188059", + "upstreamId": "76376|76377|188059", "text": "Myopia 23, autosomal recessive" }, { - "baseId": "76379|227356|791391|791392", + "upstreamId": "76379|227356|791391|791392", "text": "Winchester syndrome" }, { - "baseId": "76380", + "upstreamId": "76380", "text": "Deafness, autosomal recessive 88" }, { - "baseId": "76385|76386|550225", + "upstreamId": "76385|76386|550225", "text": "Retinitis pigmentosa 82 with or without situs inversus" }, { - "baseId": "76387|141780|425624|552085", + "upstreamId": "76387|141780|425624|552085", "text": "Infantile liver failure syndrome 1" }, { - "baseId": "76388|88878|206601|206602|221980|224392|240817|240818|240819|240820|258642|258643|258644|258652|370756|371303|373392|373398|397316|397496|397497|397499|397726|397728|397857|397858|433866|433867|437854|444610|444613|459922|459927|459930|459931|460035|460090|460093|460356|460359|460361|460784|460786|486035|503354|503627|510171|510172|510174|510180|510181|510190|525358|525364|525370|525478|525482|525488|525665|525666|525667|563798|563800|564615|564619|566111|566346|566347|569680|638968|638969|638970|638971|651968|652108|687652|687655|687656|692867|695481|752129|767785|783616|820207|820208|836941|836942|836943|836944|836945|836946|925830|925831|925832|925833|946935|956079|960720|981697", + "upstreamId": "76388|88878|206601|206602|221980|224392|240817|240818|240819|240820|258642|258643|258644|258652|370756|371303|373392|373398|397316|397496|397497|397499|397726|397728|397857|397858|433866|433867|437854|444610|444613|459922|459927|459930|459931|460035|460090|460093|460356|460359|460361|460784|460786|486035|503354|503627|510171|510172|510174|510180|510181|510190|525358|525364|525370|525478|525482|525488|525665|525666|525667|563798|563800|564615|564619|566111|566346|566347|569680|638968|638969|638970|638971|651968|652108|687652|687655|687656|692867|695481|752129|767785|783616|820207|820208|836941|836942|836943|836944|836945|836946|925830|925831|925832|925833|946935|956079|960720|981697", "text": "Aortic aneurysm, familial thoracic 8" }, { - "baseId": "76389|76390|76391|76392|76393", + "upstreamId": "76389|76390|76391|76392|76393", "text": "Palmoplantar keratoderma, Bothnian type" }, { - "baseId": "76427|226957|354303|354304|514150|553143", + "upstreamId": "76427|226957|354303|354304|514150|553143", "text": "Optic neuropathy" }, { - "baseId": "76427|267852|360814|360901|361027", + "upstreamId": "76427|267852|360814|360901|361027", "text": "Abnormal electroretinogram" }, { - "baseId": "76427|105349|360918|360926", + "upstreamId": "76427|105349|360918|360926", "text": "Visual loss" }, { - "baseId": "76527|620046|620737|622318", + "upstreamId": "76527|620046|620737|622318", "text": "WDR35-Related Disorders" }, { - "baseId": "76527|76649|132656|188988|192063|192782|250474|250911|250915|250917|260901|283786|283829|284409|284412|284415|284460|284474|286856|288710|289412|289426|292461|292469|294773|294797|298349|298359|298422|298440|321444|339360|513805|513809|549471", + "upstreamId": "76527|76649|132656|188988|192063|192782|250474|250911|250915|250917|260901|283786|283829|284409|284412|284415|284460|284474|286856|288710|289412|289426|292461|292469|294773|294797|298349|298359|298422|298440|321444|339360|513805|513809|549471", "text": "Cranioectodermal dysplasia" }, { - "baseId": 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+ "upstreamId": 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"text": "Osteopetrosis" }, { - "baseId": "76552", + "upstreamId": "76552", "text": "CARNITINE PALMITOYLTRANSFERASE IA POLYMORPHISM" }, { - "baseId": "76552", + "upstreamId": "76552", "text": "CPT1A ARCTIC VARIANT" }, { - "baseId": "76552|76563|99879|99880|191998|200218|200219|200220|200221|271352|358057|361583|372374|372616|461594|504343|564873|609808|609810|640393|640394|640396|693104|693105|693106|695540|701949|713110|738243|738244|738247|768709|768719|768720|775736|838927|838928|919389|956640|956646|979114|979115|979116|979117|979118|979119|979120|979121|979122|979123|979124|979125|979126|979127|979128|979129|979130|979131|979132|979133|979134|979135|979136|979137|979138", + "upstreamId": 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"baseId": "76763", + "upstreamId": "76763", "text": "FGFR3-related disorder" }, { - "baseId": "76805|135054|135055|135056|135057|141924|141930|172081|172082|190927|193743|195779|195780|201728|201736|201737|201743|292252|425599|443586|496375|561913|563464|631943|686501|709167|764322|828805|828811|978016|978017", + "upstreamId": "76805|135054|135055|135056|135057|141924|141930|172081|172082|190927|193743|195779|195780|201728|201736|201737|201743|292252|425599|443586|496375|561913|563464|631943|686501|709167|764322|828805|828811|978016|978017", "text": "Late-infantile neuronal ceroid lipofuscinosis" }, { - "baseId": 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"text": "Epidermolysis bullosa simplex, autosomal recessive 2" }, { - "baseId": "76922|214518", + "upstreamId": "76922|214518", "text": "MACULAR DEGENERATION, AGE-RELATED, 13, SUSCEPTIBILITY TO" }, { - "baseId": "76925|76926|76927|227290|229390|229393|229399|229400|229406|229407|229412|229414|415020|496429|552091|799435|903669|981516", + "upstreamId": "76925|76926|76927|227290|229390|229393|229399|229400|229406|229407|229412|229414|415020|496429|552091|799435|903669|981516", "text": "Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness" }, { - "baseId": "76929|76930|858728", + "upstreamId": "76929|76930|858728", "text": "Mitochondrial complex III deficiency, nuclear type 6" }, { - "baseId": "76931|76932|76933|76934|76935|76936|393851", + "upstreamId": "76931|76932|76933|76934|76935|76936|393851", "text": "Ciliary dyskinesia, primary, 22" }, { - "baseId": "76939", + "upstreamId": "76939", "text": "Body mass index quantitative trait locus 18" }, { - "baseId": "76945|76946|76947|76948|791643", + "upstreamId": "76945|76946|76947|76948|791643", "text": "Microcornea, myopic chorioretinal atrophy, and telecanthus" }, { - "baseId": 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+ "upstreamId": "76950|76951|76952|76953|106835|205561|221943|240768|240769|240770|240771|240772|240773|240774|240775|240776|240777|240778|240779|240780|240781|243961|243962|243963|243964|397221|397225|397228|397229|397231|397233|397234|397235|397241|397425|397427|397430|397622|397625|397633|397634|397635|397638|397641|397647|397652|397657|397667|397668|397760|397762|397765|397768|397773|459761|459763|459767|459944|459946|459949|459951|459958|459966|459968|459971|460223|460229|460231|460640|460643|460651|460653|460658|460659|460661|460662|525062|525064|525069|525074|525076|525264|525272|525276|525282|525387|525389|525581|552288|563685|563688|563692|564554|564555|564556|564560|566252|569612|638843|638844|638845|638846|638847|638848|638849|638850|638851|638852|638853|638854|638855|638856|638857|651961|652319|684170|687619|687620|687622|687625|752069|787580|820203|836793|836794|836795|836796|836797|836798|836799|836800|836801|925789|925790|925791|935014|935015|946871|956037|956038|956039|960718|960719", "text": "Primary ciliary dyskinesia 23" }, { - "baseId": "76963|76964|170188", + "upstreamId": "76963|76964|170188", "text": "Metacarpal 4-5 fusion" }, { - "baseId": "76965|76966|190050|190052|206701|224176|238121|238122|257907|257911|359196|362133|364334|364337|364365|364367|390765|390767|390769|390773|390778|440340|446985|447051|447055|447091|447093|447138|481127|497975|497998|509061|509066|514977|514983|514985|515008|515013|515041|556587|556840|556978|576393|576401|614648|614649|614650|614651|626610|626611|626612|677121|683253|685527|685528|792823|815974|822537|822538|929962|929963|929964|941381|941382|941383|952015|964123", + "upstreamId": "76965|76966|190050|190052|206701|224176|238121|238122|257907|257911|359196|362133|364334|364337|364365|364367|390765|390767|390769|390773|390778|440340|446985|447051|447055|447091|447093|447138|481127|497975|497998|509061|509066|514977|514983|514985|515008|515013|515041|556587|556840|556978|576393|576401|614648|614649|614650|614651|626610|626611|626612|677121|683253|685527|685528|792823|815974|822537|822538|929962|929963|929964|941381|941382|941383|952015|964123", "text": "Spinocerebellar ataxia type 19/22" }, { - "baseId": "76974|76975|622332|622333|918850", + "upstreamId": "76974|76975|622332|622333|918850", "text": "Primary aldosteronism, seizures, and neurologic abnormalities" }, { - "baseId": "76979|434673", + "upstreamId": "76979|434673", "text": "Spinocerebellar ataxia type 26" }, { - "baseId": "76980|76981|76982|136395|224975|224976|224977|224978|236851|444275|488207|508757|513166|513170|513216|576331|621027|970880", + "upstreamId": "76980|76981|76982|136395|224975|224976|224977|224978|236851|444275|488207|508757|513166|513170|513216|576331|621027|970880", "text": "Hartsfield syndrome" }, { - "baseId": "76985", + "upstreamId": "76985", "text": "Hypogonadotropic hypogonadism 10 with or without anosmia" }, { - "baseId": "76988|77012|204060|205782|214480|260139|264340|264749|264789|408687|440937|444927|511891|512237|614601|655263|712015|795046|806228|848468|954352|966506|966507|966508|966509|966510|966511|966512|966513|966514|966515|966516|966517|966518|966519|966520|966521|966522|966523|966524|966525|966526|966527|966528|966529|966530|966531|966532|966533|966534|966535|966536|966537|966538|966539|966540|966541", + "upstreamId": "76988|77012|204060|205782|214480|260139|264340|264749|264789|408687|440937|444927|511891|512237|614601|655263|712015|795046|806228|848468|954352|966506|966507|966508|966509|966510|966511|966512|966513|966514|966515|966516|966517|966518|966519|966520|966521|966522|966523|966524|966525|966526|966527|966528|966529|966530|966531|966532|966533|966534|966535|966536|966537|966538|966539|966540|966541", "text": "Rare genetic intellectual disability" }, { - "baseId": "76991|132637|439184|469018|469423|469841|469848|469852|532324|532350|532352|532357|532790|538478|571984|572674|574769|574770|574771|574772|574773|574774|624646|624647|624648|647354|647355|647356|647357|647358|647359|647360|647361|647362|647363|647364|647365|653557|716016|716017|727758|741414|741415|780036|800091|821194|821195|821196|846971|846972|846973|846974|846975|846976|846977|846978|846979|846980|846981|846982|846983|928749|928750|938474|938475|938476|958484|958485|958486|958487", + "upstreamId": "76991|132637|439184|469018|469423|469841|469848|469852|532324|532350|532352|532357|532790|538478|571984|572674|574769|574770|574771|574772|574773|574774|624646|624647|624648|647354|647355|647356|647357|647358|647359|647360|647361|647362|647363|647364|647365|653557|716016|716017|727758|741414|741415|780036|800091|821194|821195|821196|846971|846972|846973|846974|846975|846976|846977|846978|846979|846980|846981|846982|846983|928749|928750|938474|938475|938476|958484|958485|958486|958487", "text": "Immunodeficiency 12" }, { - "baseId": 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+ "upstreamId": "76992|76993|76994|76995|76996|205749|226780|237457|252543|252544|252545|259849|264218|359607|362147|368798|368803|369102|369106|369341|370629|370634|421607|431025|431026|431027|431028|431029|431030|431031|431032|431033|431034|431035|431036|431037|431038|431039|431040|431041|431042|431043|431044|431045|431046|431047|431048|431049|431050|431051|431052|431053|431054|431055|431056|431057|431058|431059|431060|431061|431062|431063|431064|431065|431066|431067|431068|431069|431070|431071|431072|431073|431074|431075|431076|431077|431078|431079|431080|431081|431082|431083|431084|431085|431086|431087|431088|431089|431090|431091|431092|431093|431094|431095|431096|431097|431098|431099|431100|431101|431102|431103|431104|431105|431106|431107|431108|431109|431110|431111|431112|431113|431114|431115|431116|431117|431118|431119|431120|431121|431122|431123|431124|431125|431126|431127|431128|431129|431130|431131|431132|431133|431134|431135|431136|431137|431138|431139|431140|431141|431142|431143|431144|431145|431146|431147|431148|431149|431150|431151|431152|431153|431154|431155|431156|431157|431158|431159|431160|431161|431162|431163|431164|431165|431166|431167|431168|431169|431170|431171|431172|431173|431174|431175|431176|431177|431178|431179|431180|431181|431182|431183|431184|431185|431186|431187|431188|431189|431190|431191|431192|431193|431194|431195|431196|431197|431198|431199|431200|431201|431202|431203|431204|431205|431206|431207|431208|431209|431210|431211|431212|431213|431214|431215|431216|431217|431218|431219|431220|431221|431222|431223|431224|431225|431226|431227|431228|431229|431230|431231|431232|431233|431234|431235|431236|431237|431238|431239|431240|431241|431242|431243|431244|431245|431246|431247|431248|431249|431250|431251|431252|431253|431254|431255|431256|431257|431258|431259|431260|431261|431262|431263|431264|431265|431266|431267|431268|431269|431270|431271|431273|431274|431275|431276|431277|431278|431279|431280|431281|431282|431283|431284|431285|431286|431287|431288|431289|431290|431291|431292|431293|431294|431295|431296|431297|431298|431299|431300|431301|431302|431303|431304|431305|431306|431307|431308|431309|431310|431311|431312|431313|431314|431315|431316|431317|431318|431319|431320|431321|431322|431323|431324|431325|431326|431327|431328|431329|431330|431331|431332|431333|431334|431335|431336|431337|431338|431339|431340|431341|431342|431343|431344|431345|431346|431347|431348|431349|431350|431351|431352|431353|431354|431355|431356|431357|431358|431359|431360|431361|431362|431363|431364|431365|431366|431367|431368|431369|431370|431371|431372|431373|431374|431375|431376|431377|431378|431379|431380|431381|431382|431383|682346|790668|790669|792761|904216|905862|964831", "text": "Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)" }, { - "baseId": "76997|76998|137712|227699|331230|399906|399958|400191|464570|464635|477067|528380|566698|573026", + "upstreamId": "76997|76998|137712|227699|331230|399906|399958|400191|464570|464635|477067|528380|566698|573026", "text": "Rhabdomyosarcoma, embryonal, 2" }, { - "baseId": "77009|77010|77011|77012|77012|208289|208289|361222|409653|425224|429815|486765|488166|513460|653891|677451|791623|791624|791625|802013|858355|919665|963810|964456", + "upstreamId": "77009|77010|77011|77012|77012|208289|208289|361222|409653|425224|429815|486765|488166|513460|653891|677451|791623|791624|791625|802013|858355|919665|963810|964456", "text": "Early infantile epileptic encephalopathy 17" }, { - "baseId": "77012|205293|205294|208289|260118|409653|417339|417343|513460|536092|578532|677451", + "upstreamId": "77012|205293|205294|208289|260118|409653|417339|417343|513460|536092|578532|677451", "text": "Neurodevelopmental disorder with involuntary movements" }, { - "baseId": "77226|77230", + "upstreamId": "77226|77230", "text": "Naegeli-Franceschetti-Jadassohn syndrome" }, { - "baseId": "77430|324506|350559|350560|351599|351601|447726|515517|515521|627319|732050|743657|746024|761491|761492|823275|921816|921817|930253|941669|952222", + "upstreamId": "77430|324506|350559|350560|351599|351601|447726|515517|515521|627319|732050|743657|746024|761491|761492|823275|921816|921817|930253|941669|952222", "text": "Inflammatory bowel disease" }, { - "baseId": "77689|165538|178581|178686", + "upstreamId": "77689|165538|178581|178686", "text": "Collapse (finding)" }, { - "baseId": "77689", + "upstreamId": "77689", "text": "History of Sudden Cardiac Death" }, { - "baseId": "77770|361929", + "upstreamId": "77770|361929", "text": "Metabolic disease" }, { - "baseId": "77872|77873|77874|77875|77876|153742|469628|539100", + "upstreamId": "77872|77873|77874|77875|77876|153742|469628|539100", "text": "Primary ciliary dyskinesia 24" }, { - "baseId": "77879|77880|174516|174517|212521|221631|239937|252377|303151|307630|307640|307814|307821|456535|896457|896458|896459|896460|896461|896462|896463|900234", + "upstreamId": "77879|77880|174516|174517|212521|221631|239937|252377|303151|307630|307640|307814|307821|456535|896457|896458|896459|896460|896461|896462|896463|900234", "text": "Ciliary dyskinesia, primary, 12" }, { - "baseId": "77881|77882|77883|238290|359267|391227|391261|391263|391277|391357|391397|405179|421247|426650|427825|434567|434684|442854|480627|550253|578383|583081|590037|627914|802122|858545|858546|920150", + "upstreamId": "77881|77882|77883|238290|359267|391227|391261|391263|391277|391357|391397|405179|421247|426650|427825|434567|434684|442854|480627|550253|578383|583081|590037|627914|802122|858545|858546|920150", "text": "Early infantile epileptic encephalopathy 18" }, { - "baseId": "78058|78261|78277|78516|78717|78885", + "upstreamId": "78058|78261|78277|78516|78717|78885", "text": "Acquired long QT syndrome" }, { - "baseId": "78511|78586|78587", + "upstreamId": "78511|78586|78587", "text": "Long QT syndrome, drug-associated" }, { - "baseId": "78605", + "upstreamId": "78605", "text": "SCN5A-Related Arrhythmias" }, { - "baseId": "78735|196833", + "upstreamId": "78735|196833", "text": "SCN5A-related disorder" }, { - "baseId": "78963", + "upstreamId": "78963", "text": "Macular schisis" }, { - "baseId": "78963", + "upstreamId": "78963", "text": "Peripheral schisis" }, { - "baseId": "79064|615309|615444", + "upstreamId": "79064|615309|615444", "text": "Coagulation factor deficiency syndrome" }, { - "baseId": "79214|151696|210313|210342|242691|433256|653401|672282|672294|672295|672296", + "upstreamId": "79214|151696|210313|210342|242691|433256|653401|672282|672294|672295|672296", "text": "Midaortic syndrome" }, { - "baseId": "79323", + "upstreamId": "79323", "text": "Chronic and progressive ataxia" }, { - "baseId": "79323", + "upstreamId": "79323", "text": "Enlarged cisterna magna" }, { - "baseId": "79323", + "upstreamId": "79323", "text": "Ataxia _ Neurologic (child onset)" }, { - "baseId": "79323", + "upstreamId": "79323", "text": "Non-progressive congenital cerebellar ataxia" }, { - "baseId": "79335|79336|79337|361238|411155|481342|614106|792141|964572|976710|976711|976712", + "upstreamId": "79335|79336|79337|361238|411155|481342|614106|792141|964572|976710|976711|976712", "text": "Chromosome Xq28 deletion syndrome" }, { - "baseId": "79338|79339|79340|79341|792797|857598", + "upstreamId": "79338|79339|79340|79341|792797|857598", "text": "Primary ciliary dyskinesia 25" }, { - "baseId": "79342|79343|79345|208445|215555|225864|237537|264817|264905|265045|362232|404836|410363|415600|415601|422219|430056|434666|434667|445961|445962|445963|445964|495485|495692|512349|512351|512781|512784|513473|514740|538476|551327|589844|611883|622447|622920|626389|788922|791857|791858|798733|798734|798735|806011|806013|806014|903629|919796|920391|961342|963180|963852|964497|964498|969286|969560|969702|971101|972839|972973|972974|972975|972976|972977|972978|972979|972980|972981|972982|972983|972984|972985|972986", + "upstreamId": "79342|79343|79345|208445|215555|225864|237537|264817|264905|265045|362232|404836|410363|415600|415601|422219|430056|434666|434667|445961|445962|445963|445964|495485|495692|512349|512351|512781|512784|513473|514740|538476|551327|589844|611883|622447|622920|626389|788922|791857|791858|798733|798734|798735|806011|806013|806014|903629|919796|920391|961342|963180|963852|964497|964498|969286|969560|969702|971101|972839|972973|972974|972975|972976|972977|972978|972979|972980|972981|972982|972983|972984|972985|972986", "text": "Bainbridge-Ropers syndrome" }, { - "baseId": "79355|79356|165834|187251|187252|187254|361552|372476|373172|373174|373177|373192|373201|373407|373409|375357|375367|375382|408721|421946|437937|437938|445059|462380|462381|462391|462396|462397|462641|462647|463092|463108|463120|463122|463126|463131|463227|463228|463237|463239|463243|463248|463250|463256|480513|480514|488120|504010|504025|504562|527308|527314|527316|527319|527590|527601|527606|527610|527831|527833|527835|540458|565643|565645|566974|566977|566979|566980|568144|568145|568150|571959|609852|609853|641303|641304|641305|641306|641307|641308|641309|641310|652336|693254|693255|693256|702453|738798|778106|791263|791264|840139|840140|840141|840142|840143|840144|840145|905365|926689|926690|926691|936203|940273|941038|956911|960049|965224", + "upstreamId": "79355|79356|165834|187251|187252|187254|361552|372476|373172|373174|373177|373192|373201|373407|373409|375357|375367|375382|408721|421946|437937|437938|445059|462380|462381|462391|462396|462397|462641|462647|463092|463108|463120|463122|463126|463131|463227|463228|463237|463239|463243|463248|463250|463256|480513|480514|488120|504010|504025|504562|527308|527314|527316|527319|527590|527601|527606|527610|527831|527833|527835|540458|565643|565645|566974|566977|566979|566980|568144|568145|568150|571959|609852|609853|641303|641304|641305|641306|641307|641308|641309|641310|652336|693254|693255|693256|702453|738798|778106|791263|791264|840139|840140|840141|840142|840143|840144|840145|905365|926689|926690|926691|936203|940273|941038|956911|960049|965224", "text": "Interstitial lung and liver disease" }, { - "baseId": "79355|445062", + "upstreamId": "79355|445062", "text": "MARS-Related Disorder" }, { - "baseId": "79441", + "upstreamId": "79441", "text": "Myoclonic encephalopathy" }, { - "baseId": "79442|79445|79451|134806|135699|181402|202439|203324|205317|362316|362344|362351|362353", + "upstreamId": "79442|79445|79451|134806|135699|181402|202439|203324|205317|362316|362344|362351|362353", "text": "Focal epilepsy" }, { - "baseId": "79508|178411|513910", + "upstreamId": "79508|178411|513910", "text": "Absence seizures" }, { - "baseId": "79508|143011|201223|226495|514004|551721|551751|679898|679899|861283|861284", + "upstreamId": "79508|143011|201223|226495|514004|551721|551751|679898|679899|861283|861284", "text": "Generalized tonic-clonic seizures" }, { - "baseId": "79563|100010|100016|165893|538300|538301|538302|538303", + "upstreamId": "79563|100010|100016|165893|538300|538301|538302|538303", "text": "West syndrome" }, { - "baseId": "79644|536698|543869", + "upstreamId": "79644|536698|543869", "text": "UV-sensitive syndrome 2" }, { - "baseId": 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"79656|131887|131888|131889|131890|131891|131894|131895|131896|131897|131898|131899|138990|208505|208506|208507|208509|208513|208514|208515|208516|208518|208519|208524|208530|208531|222763|222765|222771|222772|222774|222777|243090|243097|243100|243110|243131|243132|243134|243145|243150|243153|243165|243170|243180|243185|243190|243194|243197|243204|243213|243221|243238|243244|243257|332432|332433|332438|332439|332443|332444|332449|337612|337623|342585|342586|342591|342599|342601|342603|342605|342610|342611|342614|342618|342619|342624|347191|347975|347980|347982|347987|347991|347996|348000|349277|349279|349281|349283|349284|349286|349288|361125|361126|377075|402931|403060|403500|425361|578442|622450|879824|918273|961514|963483|963484|974524|974525|975848", "text": "Coffin-Siris syndrome" }, { - "baseId": "79696|550300|550301|550311", + "upstreamId": "79696|550300|550301|550311", "text": "Thrombotic thrombocytopenic purpura" }, { - "baseId": 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+ "upstreamId": "80741|80741|94567|167460|167460|167461|406294|413626|413627|443449|452329|452334|452338|452342|452344|452349|452355|452362|452363|452372|452377|452379|452386|452388|452399|452505|452509|452511|452512|452516|452523|452542|452546|452550|452552|452554|452556|452558|452565|452569|452570|452571|452573|452581|452582|452588|452595|452596|452623|452624|452628|452629|452635|452650|452652|452654|452658|452668|452669|452670|452674|452678|452685|452688|452705|452706|452814|452817|452820|452821|452823|452854|452859|452865|452867|452877|452893|452895|452899|452900|452902|452904|452905|452909|481692|519218|519220|519222|519226|519228|519230|519232|519241|519243|519253|519258|519259|519261|519265|519271|519272|519273|519277|519279|519281|519283|519292|519297|519302|519305|519306|519307|519308|519312|519316|519319|519325|519326|519329|519334|519433|519436|519438|519441|519446|519447|519449|519451|519459|519460|519462|519464|519468|519471|519474|519483|519502|519507|519510|519513|519515|519518|519524|519526|519532|519536|519538|558972|558974|558976|558978|558980|558982|558984|558986|558988|559491|559493|559495|559497|559499|559501|561530|561535|561537|561540|561547|561548|561552|561553|561554|561556|561560|561566|562870|562871|562873|562874|562876|562877|562882|562884|562886|562887|562888|562910|562919|625107|631357|631358|631359|631360|631361|631362|631363|631364|631365|631366|631367|631368|631369|631370|631371|631372|631373|631374|631375|631376|631377|631378|631379|631380|631381|631382|631383|631384|631385|631386|631387|631388|631389|631390|631391|631392|631393|631394|631395|631396|631397|631398|631399|631400|631401|631402|651049|651069|651088|651196|679892|686427|686428|691399|691401|691402|691403|691404|691407|691408|691411|695202|698067|720424|720426|734044|734048|744019|748241|763876|763878|763879|763882|763885|778988|781669|781671|787306|795426|795427|821889|821890|828101|828102|828103|828104|828105|828106|828107|828108|828109|828110|828111|828112|828113|828114|828115|828116|828117|828118|828119|828120|828121|828122|828123|828124|828125|828126|828127|828128|828129|828130|828131|828132|828133|828134|828135|828136|828137|828138|828139|828140|828141|828142|828143|828144|850940|850942|851387|851390|923187|923188|923189|923190|923191|923192|923193|923194|923195|923196|923197|923198|931946|931947|931948|931949|931950|931951|931952|939939|939940|940750|940751|943533|943534|943535|943536|943537|943538|943539|943540|943541|943542|943543|943544|943545|943546|943547|943548|943549|943550|943551|943552|943553|953471|953472|953473|953474|953475|953476|953477|953478|953479|953480|953481|961264", "text": "Episodic pain syndrome, familial, 3" }, { - "baseId": 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+ "upstreamId": 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"text": "Neuropathy, hereditary sensory and autonomic, type VII" }, { - "baseId": "81031|611474|611475|611476|611477|611478|611479|679873|679874|679875|679876|679877|679878|798549|798550", + "upstreamId": "81031|611474|611475|611476|611477|611478|611479|679873|679874|679875|679876|679877|679878|798549|798550", "text": "Neurodevelopmental disorder and language delay with or without structural brain abnormalities" }, { - "baseId": 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"text": "Epidermolysis bullosa simplex with nail dystrophy" }, { - "baseId": "82378|104323|104324|104326|104328|104329|104333|104334|134649|134652|134653|134654|141218|141221|141222|141223|141224|171801|171802|202652|202654|202655|202656|202658|202661|202663|202664|202669|202671|202672|202676|202677|202678|202680|202681|205273|207945|225816|225816|226651|231830|231831|231834|231844|241528|241529|244773|244777|244778|244780|244782|244785|244787|244791|244793|244794|244797|244800|244803|244810|244814|244815|264589|323830|323834|323848|329924|331237|360033|360082|360939|360939|363682|372139|372862|372872|373105|374861|384421|398860|398865|398867|398874|398876|399031|399032|399034|399332|399340|399343|399345|399346|399587|421912|424660|429407|429408|462048|462052|462055|462057|462059|462310|462312|462315|482276|503713|504002|504011|504018|504233|504235|504242|504700|527011|527015|527017|527018|527021|527029|527224|527229|527234|527237|527240|527242|527244|527544|527546|536833|551720|551720|551786|552156|552158|553385|565352|565355|565355|566731|566732|566738|566744|566746|567923|567926|567928|567929|567934|567941|571707|571713|571720|571731|579767|579773|579777|611410|614369|640993|640994|640995|640996|640997|640998|640999|641000|641001|641002|641003|641004|641005|641006|641007|641008|652460|652688|684314|684316|687937|687938|687939|687940|687942|687946|693171|753264|769021|769025|784347|788865|815997|816474|820452|820453|822058|822059|822060|822061|822062|822063|822064|822065|822066|822067|822068|839694|839695|839696|839697|839698|839699|839700|839701|839702|839703|839704|839705|839706|839707|839708|839709|839710|839711|839712|839713|839714|839715|839716|839717|839718|852467|859953|904918|906189|917108|926574|926575|926576|926577|926578|926579|926580|936038|936039|936040|936041|936042|941028|947919|947920|947921|947922|947923|956820|956821|956822|956823|956824|969373|970957|976661", + "upstreamId": "82378|104323|104324|104326|104328|104329|104333|104334|134649|134652|134653|134654|141218|141221|141222|141223|141224|171801|171802|202652|202654|202655|202656|202658|202661|202663|202664|202669|202671|202672|202676|202677|202678|202680|202681|205273|207945|225816|225816|226651|231830|231831|231834|231844|241528|241529|244773|244777|244778|244780|244782|244785|244787|244791|244793|244794|244797|244800|244803|244810|244814|244815|264589|323830|323834|323848|329924|331237|360033|360082|360939|360939|363682|372139|372862|372872|373105|374861|384421|398860|398865|398867|398874|398876|399031|399032|399034|399332|399340|399343|399345|399346|399587|421912|424660|429407|429408|462048|462052|462055|462057|462059|462310|462312|462315|482276|503713|504002|504011|504018|504233|504235|504242|504700|527011|527015|527017|527018|527021|527029|527224|527229|527234|527237|527240|527242|527244|527544|527546|536833|551720|551720|551786|552156|552158|553385|565352|565355|565355|566731|566732|566738|566744|566746|567923|567926|567928|567929|567934|567941|571707|571713|571720|571731|579767|579773|579777|611410|614369|640993|640994|640995|640996|640997|640998|640999|641000|641001|641002|641003|641004|641005|641006|641007|641008|652460|652688|684314|684316|687937|687938|687939|687940|687942|687946|693171|753264|769021|769025|784347|788865|815997|816474|820452|820453|822058|822059|822060|822061|822062|822063|822064|822065|822066|822067|822068|839694|839695|839696|839697|839698|839699|839700|839701|839702|839703|839704|839705|839706|839707|839708|839709|839710|839711|839712|839713|839714|839715|839716|839717|839718|852467|859953|904918|906189|917108|926574|926575|926576|926577|926578|926579|926580|936038|936039|936040|936041|936042|941028|947919|947920|947921|947922|947923|956820|956821|956822|956823|956824|969373|970957|976661", "text": "Epileptic encephalopathy, early infantile, 27" }, { - "baseId": "82560|165899|430131|577876|614385|793759|861077|861078|861079|861080|861081|861082|861083|861084|861085", + "upstreamId": "82560|165899|430131|577876|614385|793759|861077|861078|861079|861080|861081|861082|861083|861084|861085", "text": "Vascular dementia" }, { - "baseId": "82699|254996|254998|254999|255000|255001|255002|255003|255004|255005|255006|255008|255009|255010|255011|255012|255013|255014|255015|255017|255018|255019|255020|255023|255024|255025|255026|255027|255028|255029|255030|255032|255034|255035|276671|276673|276686|276691|276726|276763|276949|276950|276955|277004|277518|277521|277522|277526|277528|277548|277604|277610|277611|277623|277627|277653|277727|277730|277732|277750|277761|320929|320932|320938|320939|320943|320944|320945|320946|320948|320950|320951|320952|320960|320961|320965|320968|320974|320978|320979|320984|320986|329977|329979|329981|329982|329989|330005|330010|330013|330016|330018|330019|330020|330025|330030|330031|330033|330037|330038|330046|330048|330056|330057|330058|330064|330065|330069|330072|336523|336537|336538|336543|336550|336556|336557|336560|336564|336566|336569|336572|336573|336577|336578|336581|336587|336593|338442|338445|338446|338453|338456|338460|338461|338471|338472|338474|338477|338478|338485|338486|338499|338500|338501|338518|338521|338529|338532|338533|338535|338538|338539|338543|338544|338547", + "upstreamId": "82699|254996|254998|254999|255000|255001|255002|255003|255004|255005|255006|255008|255009|255010|255011|255012|255013|255014|255015|255017|255018|255019|255020|255023|255024|255025|255026|255027|255028|255029|255030|255032|255034|255035|276671|276673|276686|276691|276726|276763|276949|276950|276955|277004|277518|277521|277522|277526|277528|277548|277604|277610|277611|277623|277627|277653|277727|277730|277732|277750|277761|320929|320932|320938|320939|320943|320944|320945|320946|320948|320950|320951|320952|320960|320961|320965|320968|320974|320978|320979|320984|320986|329977|329979|329981|329982|329989|330005|330010|330013|330016|330018|330019|330020|330025|330030|330031|330033|330037|330038|330046|330048|330056|330057|330058|330064|330065|330069|330072|336523|336537|336538|336543|336550|336556|336557|336560|336564|336566|336569|336572|336573|336577|336578|336581|336587|336593|338442|338445|338446|338453|338456|338460|338461|338471|338472|338474|338477|338478|338485|338486|338499|338500|338501|338518|338521|338529|338532|338533|338535|338538|338539|338543|338544|338547", "text": "Elliptocytosis" }, { - "baseId": "82699|254996|254998|254999|255000|255001|255002|255003|255004|255005|255006|255008|255009|255010|255011|255012|255013|255014|255015|255017|255018|255019|255020|255023|255024|255025|255026|255027|255028|255029|255030|255032|255034|255035|305268|305280|305289|305321|309074|314297|314308|314318|314321|314333|314404|314408|320929|320932|320938|320939|320943|320944|320945|320946|320948|320950|320951|320952|320960|320961|320965|320968|320974|320978|320979|320984|320986|328660|328662|328672|328673|329977|329979|329981|329982|329989|330005|330010|330013|330016|330018|330019|330020|330025|330030|330031|330033|330037|330038|330046|330048|330056|330057|330058|330064|330065|330069|330072|336523|336537|336538|336543|336550|336556|336557|336560|336564|336566|336569|336572|336573|336577|336578|336581|336587|336593|338442|338445|338446|338453|338456|338460|338461|338471|338472|338474|338477|338478|338485|338486|338499|338500|338501|338518|338521|338529|338532|338533|338535|338538|338539|338543|338544|338547|338624|338631|338649|338655|344704", + "upstreamId": "82699|254996|254998|254999|255000|255001|255002|255003|255004|255005|255006|255008|255009|255010|255011|255012|255013|255014|255015|255017|255018|255019|255020|255023|255024|255025|255026|255027|255028|255029|255030|255032|255034|255035|305268|305280|305289|305321|309074|314297|314308|314318|314321|314333|314404|314408|320929|320932|320938|320939|320943|320944|320945|320946|320948|320950|320951|320952|320960|320961|320965|320968|320974|320978|320979|320984|320986|328660|328662|328672|328673|329977|329979|329981|329982|329989|330005|330010|330013|330016|330018|330019|330020|330025|330030|330031|330033|330037|330038|330046|330048|330056|330057|330058|330064|330065|330069|330072|336523|336537|336538|336543|336550|336556|336557|336560|336564|336566|336569|336572|336573|336577|336578|336581|336587|336593|338442|338445|338446|338453|338456|338460|338461|338471|338472|338474|338477|338478|338485|338486|338499|338500|338501|338518|338521|338529|338532|338533|338535|338538|338539|338543|338544|338547|338624|338631|338649|338655|344704", "text": "Spherocytosis, Dominant" }, { - "baseId": "82961|185748|249203|249204|512212|971605|971606|971607|971609|971610|976665", + "upstreamId": "82961|185748|249203|249204|512212|971605|971606|971607|971609|971610|976665", "text": "Mental retardation, autosomal recessive 49" }, { - "baseId": "83715|104193|104194|104195|104196|104197|104198|104199|104200|104201|104202|104203|104204|104205|104206|104207|104208|104209|104210|104211|104212|104213|104214|104215|104216|104217|104218|104219|104220|104221|104222|104223|104224|104225|104226|104227|104228|104229|104230|104231|104232|104233|104234", + "upstreamId": "83715|104193|104194|104195|104196|104197|104198|104199|104200|104201|104202|104203|104204|104205|104206|104207|104208|104209|104210|104211|104212|104213|104214|104215|104216|104217|104218|104219|104220|104221|104222|104223|104224|104225|104226|104227|104228|104229|104230|104231|104232|104233|104234", "text": "Tobacco use disorder" }, { - "baseId": "83803|166569|214480|363332|404624|511151|575484|798076|800806|800807|800809|800811|800812|921576|966338|966339|969259|969260|969261|969262|972733", + "upstreamId": "83803|166569|214480|363332|404624|511151|575484|798076|800806|800807|800809|800811|800812|921576|966338|966339|969259|969260|969261|969262|972733", "text": "CEBALID syndrome" }, { - "baseId": "83803|798076|800806|800807|800809|805119|966338|967136|967137|967138", + "upstreamId": "83803|798076|800806|800807|800809|805119|966338|967136|967137|967138", "text": "MN1 C-terminal truncation (MCTT) syndrome" }, { - "baseId": "83949", + "upstreamId": "83949", "text": "RAS Inhibitor response" }, { - "baseId": "84057|188136|188137|214794|214795|214796|214797|214798|226505|226506|226507|226508|226509|362381|424491|424637|427635|442619|511167|513490|550574|550575|578747|611372|611373|653845|653911|654148|788724|789842|789843|789844|805076|805084|918555|918556|961027|964011|964128|964710|970658|971564|975854", + "upstreamId": "84057|188136|188137|214794|214795|214796|214797|214798|226505|226506|226507|226508|226509|362381|424491|424637|427635|442619|511167|513490|550574|550575|578747|611372|611373|653845|653911|654148|788724|789842|789843|789844|805076|805084|918555|918556|961027|964011|964128|964710|970658|971564|975854", "text": "White-sutton syndrome" }, { - "baseId": "85522|380153|389514|428056|428058|448600|450908|450909|450925|451019|451022|451032|451212|451214|451216|451217|451222|451224|451231|451236|511424|514470|518228|518229|518231|518237|518241|518242|518268|518273|518278|538968|539197|539198|539199|539200|557442|558097|558099|558101|558103|558105|558464|558466|558468|558470|558643|560639|589084|589085|630010|630011|630012|630013|630014|630015|630016|630017|630018|630019|630020|630021|630022|630023|630024|630025|630026|630027|630028|630029|630030|630031|630032|650961|679597|686212|691163|691164|691165|691167|691168|691169|691170|691171|691172|691173|691174|691175|695145|697573|697575|697578|697581|743877|747652|747654|763250|777278|799301|819171|819172|819173|826490|826491|826492|826493|826494|826495|826496|826497|826498|826499|826500|826501|826502|826503|826504|826505|826506|826507|826508|826509|826510|826511|904185|904425|922777|922778|922779|922780|922781|922782|931410|931411|931412|931413|931414|931415|931416|931417|942927|942928|942929|942930|942931|942932|942933|942934|942935|942936|942937|942938|942939|942940|942941|953095|953096|963126", + "upstreamId": "85522|380153|389514|428056|428058|448600|450908|450909|450925|451019|451022|451032|451212|451214|451216|451217|451222|451224|451231|451236|511424|514470|518228|518229|518231|518237|518241|518242|518268|518273|518278|538968|539197|539198|539199|539200|557442|558097|558099|558101|558103|558105|558464|558466|558468|558470|558643|560639|589084|589085|630010|630011|630012|630013|630014|630015|630016|630017|630018|630019|630020|630021|630022|630023|630024|630025|630026|630027|630028|630029|630030|630031|630032|650961|679597|686212|691163|691164|691165|691167|691168|691169|691170|691171|691172|691173|691174|691175|695145|697573|697575|697578|697581|743877|747652|747654|763250|777278|799301|819171|819172|819173|826490|826491|826492|826493|826494|826495|826496|826497|826498|826499|826500|826501|826502|826503|826504|826505|826506|826507|826508|826509|826510|826511|904185|904425|922777|922778|922779|922780|922781|922782|931410|931411|931412|931413|931414|931415|931416|931417|942927|942928|942929|942930|942931|942932|942933|942934|942935|942936|942937|942938|942939|942940|942941|953095|953096|963126", "text": "Myasthenic syndrome, congenital, 22" }, { - "baseId": "86128|86130|86132|86134|86136|964554", + "upstreamId": "86128|86130|86132|86134|86136|964554", "text": "Idiopathic basal ganglia calcification 5" }, { - "baseId": "86177|199922|199923|199925|199927|199928|199929|199930|199931|199932|199936|200703|204039|204062|359478|414962|428275|440835|443568|452956|452957|452959|452960|452961|452962|453265|453268|453269|453337|453338|453340|453345|453347|453348|453350|453352|453354|453718|453719|453722|453724|453726|453727|481475|481476|481478|519721|519726|519728|519739|519743|519747|519750|519752|519936|519991|519993|519996|519997|520010|520012|520015|536661|538979|559545|559581|559583|559728|559730|559732|559734|559736|561885|561887|561892|561895|563434|563440|563453|563457|575512|576330|631914|631915|631916|631917|631918|631919|631920|631921|631922|631923|631924|631925|631926|631927|631928|631929|631930|631931|631932|631933|631934|631935|631936|631937|631938|631939|631940|631941|654124|698364|698366|698367|720744|720745|720746|730261|748714|748715|759319|764295|764296|764299|764303|764306|774880|781865|781866|781867|818233|819441|819442|828745|828746|828747|828748|828749|828750|828751|828752|828753|828754|828755|828756|828757|828758|828759|828760|828761|828762|828763|828764|828765|828766|828767|828768|828769|828770|828771|828772|828773|828774|828775|828776|828777|828778|828779|828780|828781|828782|828783|828784|851479|851586|903532|923405|923406|923407|923408|923409|923410|923411|923412|923413|923414|923415|923416|923417|923418|923419|923420|923421|923422|932152|932153|932154|932155|932156|932157|932158|932159|932160|932161|932162|932163|932164|932165|943789|943790|943791|943792|943793|953661|953662|953663|953664|953665|953666|970784|970785|970786|972784|980912", + "upstreamId": "86177|199922|199923|199925|199927|199928|199929|199930|199931|199932|199936|200703|204039|204062|359478|414962|428275|440835|443568|452956|452957|452959|452960|452961|452962|453265|453268|453269|453337|453338|453340|453345|453347|453348|453350|453352|453354|453718|453719|453722|453724|453726|453727|481475|481476|481478|519721|519726|519728|519739|519743|519747|519750|519752|519936|519991|519993|519996|519997|520010|520012|520015|536661|538979|559545|559581|559583|559728|559730|559732|559734|559736|561885|561887|561892|561895|563434|563440|563453|563457|575512|576330|631914|631915|631916|631917|631918|631919|631920|631921|631922|631923|631924|631925|631926|631927|631928|631929|631930|631931|631932|631933|631934|631935|631936|631937|631938|631939|631940|631941|654124|698364|698366|698367|720744|720745|720746|730261|748714|748715|759319|764295|764296|764299|764303|764306|774880|781865|781866|781867|818233|819441|819442|828745|828746|828747|828748|828749|828750|828751|828752|828753|828754|828755|828756|828757|828758|828759|828760|828761|828762|828763|828764|828765|828766|828767|828768|828769|828770|828771|828772|828773|828774|828775|828776|828777|828778|828779|828780|828781|828782|828783|828784|851479|851586|903532|923405|923406|923407|923408|923409|923410|923411|923412|923413|923414|923415|923416|923417|923418|923419|923420|923421|923422|932152|932153|932154|932155|932156|932157|932158|932159|932160|932161|932162|932163|932164|932165|943789|943790|943791|943792|943793|953661|953662|953663|953664|953665|953666|970784|970785|970786|972784|980912", "text": "Epilepsy, hearing loss, and mental retardation syndrome" }, { - "baseId": "91475|106831|106832|106833|106834|205788|205789|260578|375291|375299|375330|376197|376230|376232|376338|378494|378500|410063|411591|411592|411593|413453|426232|429990|438649|466977|467055|467921|467970|467972|467973|468169|468172|468245|468372|468478|531228|531421|531425|531432|531476|531724|569245|569314|571300|571305|571602|571624|571703|646170|646171|646172|646173|646174|646175|646176|646223|646224|646225|646226|646227|646228|653471|653475|653479|694110|694112|694113|694129|694130|694132|694134|694135|695753|695754|695755|695760|704208|727253|755932|776346|797559|802220|821104|845599|845600|845645|845646|845647|851727|851729|852756|860400|904649|938035|950025|958193|958194", + "upstreamId": "91475|106831|106832|106833|106834|205788|205789|260578|375291|375299|375330|376197|376230|376232|376338|378494|378500|410063|411591|411592|411593|413453|426232|429990|438649|466977|467055|467921|467970|467972|467973|468169|468172|468245|468372|468478|531228|531421|531425|531432|531476|531724|569245|569314|571300|571305|571602|571624|571703|646170|646171|646172|646173|646174|646175|646176|646223|646224|646225|646226|646227|646228|653471|653475|653479|694110|694112|694113|694129|694130|694132|694134|694135|695753|695754|695755|695760|704208|727253|755932|776346|797559|802220|821104|845599|845600|845645|845646|845647|851727|851729|852756|860400|904649|938035|950025|958193|958194", "text": "Ataxia, spastic, 2, autosomal recessive" }, { - "baseId": "91819|141566|141567|141568|141569|141571|141572|165726|226730|226731|226732|226733|227400|247156|256738|256739|256740|256741|256742|271335|332348|332352|332355|332359|332361|332366|332368|332375|332377|332381|332382|342508|342513|342514|342517|342518|342520|342526|342527|342530|342531|342533|342535|342538|342540|347911|347912|347914|347915|347919|347920|347921|347922|347926|347929|347932|349242|349245|349246|360352|377025|377042|377212|377222|379171|379173|422232|434354|434355|446017|446019|468200|469092|469949|506423|507450|532391|532401|532406|532410|532456|532471|532472|532526|532528|532532|532859|532861|532871|532889|532894|570322|570323|570324|570327|570332|570336|572051|572053|572734|572737|572740|574797|574798|574799|574800|574801|574802|574804|574806|614453|624649|647418|647419|647420|647421|647422|647423|647424|647425|647426|647427|647428|647429|647430|647431|647432|647433|647434|647435|647436|647437|647438|647439|647440|647441|647442|647443|647444|647445|647446|647447|647448|647449|652975|653590|716119|716120|716121|727848|727849|727850|731232|741499|741501|756611|756613|756615|756617|756619|760552|760664|772294|772295|788231|821202|821203|821204|847045|847046|847047|847048|847049|847050|847051|847052|847053|847054|847055|847056|847057|847058|847059|847060|847061|847062|847063|847064|847065|851781|852829|879762|879763|879764|879765|879766|879767|879768|879769|879770|879771|879772|879773|879774|879775|879776|879777|879778|879779|879780|879781|879782|879783|879784|879785|879786|879787|879788|879789|879790|879791|879792|879793|879794|879795|879796|879797|879798|879799|879800|879801|879802|880682|880683|880684|880685|880686|928784|928785|938502|938503|938504|938505|938506|938507|938508|938509|938510|938511|950595|950596|950597|950598|950599|950600|950601|950602|950603|958501|958502|958503|958504|958505|958506|958507|958508|958509", + "upstreamId": "91819|141566|141567|141568|141569|141571|141572|165726|226730|226731|226732|226733|227400|247156|256738|256739|256740|256741|256742|271335|332348|332352|332355|332359|332361|332366|332368|332375|332377|332381|332382|342508|342513|342514|342517|342518|342520|342526|342527|342530|342531|342533|342535|342538|342540|347911|347912|347914|347915|347919|347920|347921|347922|347926|347929|347932|349242|349245|349246|360352|377025|377042|377212|377222|379171|379173|422232|434354|434355|446017|446019|468200|469092|469949|506423|507450|532391|532401|532406|532410|532456|532471|532472|532526|532528|532532|532859|532861|532871|532889|532894|570322|570323|570324|570327|570332|570336|572051|572053|572734|572737|572740|574797|574798|574799|574800|574801|574802|574804|574806|614453|624649|647418|647419|647420|647421|647422|647423|647424|647425|647426|647427|647428|647429|647430|647431|647432|647433|647434|647435|647436|647437|647438|647439|647440|647441|647442|647443|647444|647445|647446|647447|647448|647449|652975|653590|716119|716120|716121|727848|727849|727850|731232|741499|741501|756611|756613|756615|756617|756619|760552|760664|772294|772295|788231|821202|821203|821204|847045|847046|847047|847048|847049|847050|847051|847052|847053|847054|847055|847056|847057|847058|847059|847060|847061|847062|847063|847064|847065|851781|852829|879762|879763|879764|879765|879766|879767|879768|879769|879770|879771|879772|879773|879774|879775|879776|879777|879778|879779|879780|879781|879782|879783|879784|879785|879786|879787|879788|879789|879790|879791|879792|879793|879794|879795|879796|879797|879798|879799|879800|879801|879802|880682|880683|880684|880685|880686|928784|928785|938502|938503|938504|938505|938506|938507|938508|938509|938510|938511|950595|950596|950597|950598|950599|950600|950601|950602|950603|958501|958502|958503|958504|958505|958506|958507|958508|958509", "text": "Tyrosine kinase 2 deficiency" }, { - "baseId": "92620|335886|335890|335894|335899|335901|335902|335904|335907|335909|335911|335914|335915|345594|345596|345598|345601|345602|345606|345617|350157|350158|350159|350161|350162|350163|350164|350167|350173|351214|351217|351218|351221|351222|351225|351226|351229|351230|351237|351238|434496|434497|620666|705566|717065|717066|717068|717070|728738|728739|757620|798766|886323|886324|886325|886326|886327|886328|886329|886330|886331|886332|886333|886334|886335|886336|886337|886338|886339|886340|886341|886342|886343|886344|886345|887474|887475|887476|920418", + "upstreamId": "92620|335886|335890|335894|335899|335901|335902|335904|335907|335909|335911|335914|335915|345594|345596|345598|345601|345602|345606|345617|350157|350158|350159|350161|350162|350163|350164|350167|350173|351214|351217|351218|351221|351222|351225|351226|351229|351230|351237|351238|434496|434497|620666|705566|717065|717066|717068|717070|728738|728739|757620|798766|886323|886324|886325|886326|886327|886328|886329|886330|886331|886332|886333|886334|886335|886336|886337|886338|886339|886340|886341|886342|886343|886344|886345|887474|887475|887476|920418", "text": "Phosphoenolpyruvate carboxykinase deficiency, cytosolic" }, { - "baseId": 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+ "upstreamId": "92718|94413|380176|439199|469550|469552|469557|469561|469562|469563|469565|469567|469569|469576|470593|470595|470597|470598|470600|470606|470608|470609|470612|470613|471083|471088|471092|471096|471100|471102|471106|471107|471114|471120|471125|471126|471129|471133|471135|471567|471569|471571|471573|471577|471579|471582|471582|471585|471589|471591|471594|471599|533751|533758|533759|533768|533775|533777|533778|533779|533780|533781|533782|533784|533786|533787|533788|533789|533791|533792|533794|533795|533798|533799|533800|533801|533802|533804|533805|533809|533811|533814|533815|533816|533818|533825|534347|534349|534351|534354|534356|534364|534367|534368|534372|539985|571475|571476|571479|571485|571486|571490|571492|571498|571499|571503|571505|573029|573034|573036|573038|573042|573050|573055|573058|573060|573062|573063|573717|573729|573731|573736|573738|573739|573740|573746|573748|573749|573750|573754|573756|573757|573759|575147|575148|575149|575150|575151|622474|648889|648890|648891|648892|648893|648894|648895|648896|648897|648898|648899|648900|648901|648902|648903|648904|648905|648906|648907|648908|648909|648910|648911|648912|648913|648914|648915|648916|648917|648918|648919|648920|648921|648922|648923|648924|648925|648926|653575|653662|653666|694623|705654|705656|705657|717181|728858|728859|728860|742586|742588|742589|745133|757736|757737|757738|757740|757741|757743|757744|757747|773284|773286|773293|776944|776945|776946|780000|786481|786483|786484|788255|788353|798019|798022|821352|821361|821362|848670|848671|848672|848673|848674|848675|848676|848677|848678|848679|848680|848681|848682|848683|848684|848685|848686|848687|848688|848689|848690|848691|848692|848693|848694|848695|848696|848697|848698|848699|848700|848701|848702|848703|848704|848705|848706|848707|848708|848709|848710|848711|848712|848713|848714|848715|848716|848717|848718|848719|848720|851857|852396|852914|929282|929283|929284|929285|929286|929287|929288|929289|929290|929291|929292|929293|929294|929295|929296|929297|929298|929299|929300|929301|929302|929303|939069|939070|939071|939072|939073|939074|939075|939076|939077|939078|939079|939080|939081|939082|939083|941257|941258|951192|951193|951194|951195|951196|951197|951198|951199|951200|951201|951202|951203|951204|951205|951206|951207|951208|951209|958932|958933|958934|958935|958936|958937|958938|958939|958940|958941|960325|960950|980855|980856", "text": "Parkinson disease 20, early-onset" }, { - "baseId": "92718|380177|380178|380179|380180|439199|469550|469552|469557|469561|469562|469563|469565|469567|469569|469576|470593|470595|470597|470598|470600|470606|470608|470609|470612|470613|471083|471088|471092|471096|471100|471102|471106|471107|471114|471120|471125|471126|471129|471133|471135|471567|471569|471571|471573|471577|471579|471582|471582|471585|471589|471591|471594|471599|533751|533758|533759|533768|533775|533777|533778|533779|533780|533781|533782|533784|533786|533787|533788|533789|533791|533792|533794|533795|533798|533799|533800|533801|533802|533804|533805|533809|533811|533814|533815|533816|533818|533825|534347|534349|534351|534354|534356|534364|534367|534368|534372|571475|571476|571479|571485|571486|571490|571492|571498|571498|571499|571503|571505|573029|573034|573036|573038|573042|573050|573055|573058|573060|573062|573063|573717|573729|573731|573736|573738|573739|573740|573746|573748|573749|573750|573754|573756|573757|573759|575147|575148|575149|575150|575151|622474|648889|648890|648891|648892|648893|648894|648895|648896|648897|648898|648899|648900|648901|648902|648903|648904|648905|648906|648907|648908|648909|648910|648911|648912|648913|648914|648915|648916|648917|648918|648919|648920|648921|648922|648923|648924|648925|648926|653575|653662|653666|694623|705654|705656|705657|717181|728858|728859|728860|742586|742588|742589|745133|757736|757737|757738|757740|757741|757743|757744|757747|773284|773286|773293|776944|776945|776946|780000|786481|786483|786484|788255|788353|798019|798019|798022|798924|821352|821361|821362|848670|848671|848672|848673|848674|848675|848676|848677|848678|848679|848680|848681|848682|848683|848684|848685|848686|848687|848688|848689|848690|848691|848692|848693|848694|848695|848696|848697|848698|848699|848700|848701|848702|848703|848704|848705|848706|848707|848708|848709|848710|848711|848712|848713|848714|848715|848716|848717|848718|848719|848720|851857|852396|852914|919932|929282|929283|929284|929285|929286|929287|929288|929289|929290|929291|929292|929293|929294|929295|929296|929297|929298|929299|929300|929301|929302|929303|939069|939070|939071|939072|939073|939074|939075|939076|939077|939078|939079|939080|939081|939082|939083|941257|941258|951192|951193|951194|951195|951196|951197|951198|951199|951200|951201|951202|951203|951204|951205|951206|951207|951208|951209|958932|958933|958934|958935|958936|958937|958938|958939|958940|958941|960325|960950|966776", + "upstreamId": "92718|380177|380178|380179|380180|439199|469550|469552|469557|469561|469562|469563|469565|469567|469569|469576|470593|470595|470597|470598|470600|470606|470608|470609|470612|470613|471083|471088|471092|471096|471100|471102|471106|471107|471114|471120|471125|471126|471129|471133|471135|471567|471569|471571|471573|471577|471579|471582|471582|471585|471589|471591|471594|471599|533751|533758|533759|533768|533775|533777|533778|533779|533780|533781|533782|533784|533786|533787|533788|533789|533791|533792|533794|533795|533798|533799|533800|533801|533802|533804|533805|533809|533811|533814|533815|533816|533818|533825|534347|534349|534351|534354|534356|534364|534367|534368|534372|571475|571476|571479|571485|571486|571490|571492|571498|571498|571499|571503|571505|573029|573034|573036|573038|573042|573050|573055|573058|573060|573062|573063|573717|573729|573731|573736|573738|573739|573740|573746|573748|573749|573750|573754|573756|573757|573759|575147|575148|575149|575150|575151|622474|648889|648890|648891|648892|648893|648894|648895|648896|648897|648898|648899|648900|648901|648902|648903|648904|648905|648906|648907|648908|648909|648910|648911|648912|648913|648914|648915|648916|648917|648918|648919|648920|648921|648922|648923|648924|648925|648926|653575|653662|653666|694623|705654|705656|705657|717181|728858|728859|728860|742586|742588|742589|745133|757736|757737|757738|757740|757741|757743|757744|757747|773284|773286|773293|776944|776945|776946|780000|786481|786483|786484|788255|788353|798019|798019|798022|798924|821352|821361|821362|848670|848671|848672|848673|848674|848675|848676|848677|848678|848679|848680|848681|848682|848683|848684|848685|848686|848687|848688|848689|848690|848691|848692|848693|848694|848695|848696|848697|848698|848699|848700|848701|848702|848703|848704|848705|848706|848707|848708|848709|848710|848711|848712|848713|848714|848715|848716|848717|848718|848719|848720|851857|852396|852914|919932|929282|929283|929284|929285|929286|929287|929288|929289|929290|929291|929292|929293|929294|929295|929296|929297|929298|929299|929300|929301|929302|929303|939069|939070|939071|939072|939073|939074|939075|939076|939077|939078|939079|939080|939081|939082|939083|941257|941258|951192|951193|951194|951195|951196|951197|951198|951199|951200|951201|951202|951203|951204|951205|951206|951207|951208|951209|958932|958933|958934|958935|958936|958937|958938|958939|958940|958941|960325|960950|966776", "text": "Epileptic encephalopathy, early infantile, 53" }, { - "baseId": "93526|453713", + "upstreamId": "93526|453713", "text": "B Lymphoblastic Leukemia/Lymphoma with t(v" }, { - "baseId": "93526|453713|612012", + "upstreamId": "93526|453713|612012", "text": "11q23.3)" }, { - "baseId": "93526|453713|612012", + "upstreamId": "93526|453713|612012", "text": " KMT2A Rearranged" }, { - "baseId": "94194|94195|244155|438283|438284|453001|453003|453014|453020|453292|453301|453305|453307|453308|453389|453392|453400|453403|453404|453606|453791|453798|519773|519780|519782|519786|519798|519802|519806|520049|520051|520056|520100|559617|559772|559774|559776|559778|559780|561935|561940|561950|563538|609531|632033|632034|632035|632036|632037|632038|632039|632040|632041|632042|632043|632044|632045|632046|632047|632048|632049|632050|632051|632052|632053|691513|691514|691517|691519|691520|691521|695218|698396|720795|748774|764352|764354|764357|764358|787414|828884|828885|828886|828887|828888|828889|828890|828891|828892|828893|828894|851491|923443|923444|923445|923446|932212|932213|932214|932215|932216|932217|932218|943848|943849|943850|943851|943852|943853|953692|953693", + "upstreamId": "94194|94195|244155|438283|438284|453001|453003|453014|453020|453292|453301|453305|453307|453308|453389|453392|453400|453403|453404|453606|453791|453798|519773|519780|519782|519786|519798|519802|519806|520049|520051|520056|520100|559617|559772|559774|559776|559778|559780|561935|561940|561950|563538|609531|632033|632034|632035|632036|632037|632038|632039|632040|632041|632042|632043|632044|632045|632046|632047|632048|632049|632050|632051|632052|632053|691513|691514|691517|691519|691520|691521|695218|698396|720795|748774|764352|764354|764357|764358|787414|828884|828885|828886|828887|828888|828889|828890|828891|828892|828893|828894|851491|923443|923444|923445|923446|932212|932213|932214|932215|932216|932217|932218|943848|943849|943850|943851|943852|943853|953692|953693", "text": "Charcot-Marie-Tooth disease, axonal, type 2R" }, { - "baseId": "94224|362490|362491|513218", + "upstreamId": "94224|362490|362491|513218", "text": "Spastic paraplegia 79, autosomal recessive" }, { - "baseId": "94225|94226|94227|208297|422102|553394|585918|613830|791631|798701|799962|964875|971053|973042", + "upstreamId": "94225|94226|94227|208297|422102|553394|585918|613830|791631|798701|799962|964875|971053|973042", "text": "Mental retardation, autosomal dominant 21" }, { - "baseId": "94228|94229", + "upstreamId": "94228|94229", "text": "Major depressive disorder" }, { - "baseId": "94232|94233|94234|428697|456514|456515|456517|456519|456521|456906|456909|456920|457142|457144|457145|457595|502324|522507|522745|522749|522822|523180|561038|564180|566634|635965|651672|692192|692194|692195|692197|692198|692199|692200|699973|699975|699978|699979|699980|699981|699982|710913|710914|710915|736057|736058|759656|851146|906251|906252|924776|945542|945543|945544|955101|960628", + "upstreamId": "94232|94233|94234|428697|456514|456515|456517|456519|456521|456906|456909|456920|457142|457144|457145|457595|502324|522507|522745|522749|522822|523180|561038|564180|566634|635965|651672|692192|692194|692195|692197|692198|692199|692200|699973|699975|699978|699979|699980|699981|699982|710913|710914|710915|736057|736058|759656|851146|906251|906252|924776|945542|945543|945544|955101|960628", "text": "Short-rib thoracic dysplasia 8 with or without polydactyly" }, { - "baseId": "94236|171810|207747|207753|207758|207768|207769|207781|247043|373416|407873|429080|429084|429095|429098|429099|538414|578486|790966|790967|790968|906324|919279|919280|919281|919282|920283", + "upstreamId": "94236|171810|207747|207753|207758|207768|207769|207781|247043|373416|407873|429080|429084|429095|429098|429099|538414|578486|790966|790967|790968|906324|919279|919280|919281|919282|920283", "text": "Mental retardation, autosomal recessive 37" }, { - "baseId": "94238|94239|94240|361491|371686|371690|421789|459888|459897|460072|460326|460441|460756|502795|525348|525652|525657|563779|564593|638941|638942|638943|638944|638945|638946|638947|655993|684175|684176|684177|684179|687636|687637|687639|687641|687643|692844|820189|836873|925815|925816|925817|956056|970613|981693|981694|981695", + "upstreamId": "94238|94239|94240|361491|371686|371690|421789|459888|459897|460072|460326|460441|460756|502795|525348|525652|525657|563779|564593|638941|638942|638943|638944|638945|638946|638947|655993|684175|684176|684177|684179|687636|687637|687639|687641|687643|692844|820189|836873|925815|925816|925817|956056|970613|981693|981694|981695", "text": "Telangiectasia, hereditary hemorrhagic, type 5" }, { - "baseId": "94241|94242|624846|788733|789911", + "upstreamId": "94241|94242|624846|788733|789911", "text": "Orofaciodigital syndrome V" }, { - "baseId": "94249|94250", + "upstreamId": "94249|94250", "text": "Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige" }, { - "baseId": "94253|206596|404733|431173|954586|970260|970261|970262|970263|970264|970265|970266|970268|970272|970303|970310|970311|970312|970313|970314|970315|970316|970317|970319|970322|970329|970330|970331|970332|970333|970345|970346|970349|970350|970352|970353", + "upstreamId": "94253|206596|404733|431173|954586|970260|970261|970262|970263|970264|970265|970266|970268|970272|970303|970310|970311|970312|970313|970314|970315|970316|970317|970319|970322|970329|970330|970331|970332|970333|970345|970346|970349|970350|970352|970353", "text": "Moyamoya angiopathy" }, { - "baseId": "94255|136555|136556|136557|359280|405271|405272|433818|433819|433820|448257|448261|448268|448270|448272|448274|448280|448389|448396|448464|448465|448466|448467|448471|516096|516098|516102|516106|516116|516138|516143|516145|516147|516152|516246|516251|557388|557431|558044|558046|558601|558603|558605|609440|624193|628289|628290|628291|628292|628293|628294|628295|628296|628297|628298|628299|628300|628301|628302|628303|650692|650694|650702|650778|696925|707607|707608|707609|707610|719147|719148|719149|732670|732671|732673|732674|732675|732677|746693|746695|746696|746697|746698|746699|758953|759087|762107|762116|774556|774558|778843|780782|780784|780785|790020|794748|799231|799232|818824|819006|824551|824552|824553|824554|824555|824556|824557|824558|824559|824560|824561|824562|824563|824564|920155|922176|922177|922178|922179|922180|930711|930712|930713|930714|930715|930716|939833|940649|940650|942149|942150|942151|942152|942153|952558|952559|952560|952561|952562|960436|961926|970704", + "upstreamId": "94255|136555|136556|136557|359280|405271|405272|433818|433819|433820|448257|448261|448268|448270|448272|448274|448280|448389|448396|448464|448465|448466|448467|448471|516096|516098|516102|516106|516116|516138|516143|516145|516147|516152|516246|516251|557388|557431|558044|558046|558601|558603|558605|609440|624193|628289|628290|628291|628292|628293|628294|628295|628296|628297|628298|628299|628300|628301|628302|628303|650692|650694|650702|650778|696925|707607|707608|707609|707610|719147|719148|719149|732670|732671|732673|732674|732675|732677|746693|746695|746696|746697|746698|746699|758953|759087|762107|762116|774556|774558|778843|780782|780784|780785|790020|794748|799231|799232|818824|819006|824551|824552|824553|824554|824555|824556|824557|824558|824559|824560|824561|824562|824563|824564|920155|922176|922177|922178|922179|922180|930711|930712|930713|930714|930715|930716|939833|940649|940650|942149|942150|942151|942152|942153|952558|952559|952560|952561|952562|960436|961926|970704", "text": "Immunodeficiency 14" }, { - "baseId": "94260|94261|94263|94264|221749|240211|240212|240213|240214|240215|240216|240217|240218|389829|395838|395839|395845|395854|395857|396112|396113|396116|396234|396242|396243|396245|396255|396522|396523|396524|396526|396527|396529|396531|396533|396541|439015|457123|457126|457709|457710|457718|457719|457726|457728|457731|457733|457741|457757|457759|457760|457761|457763|458123|458130|458136|458139|458141|458143|522958|522963|523184|523186|523194|523197|523422|523426|523543|561867|561872|561876|561879|561880|561881|561883|564574|564575|567313|567315|567317|636523|636524|636525|636526|636527|636528|636529|636530|636531|636532|651756|651882|683959|687156|689896|692339|819933|834020|834021|834022|834023|834024|834025|834026|834027|834028|834029|924976|924977|924978|934057|934058|934059|934060|934061|945814|945815|945816|945817|945818|945819|945820|955270|955271|955272", + "upstreamId": "94260|94261|94263|94264|221749|240211|240212|240213|240214|240215|240216|240217|240218|389829|395838|395839|395845|395854|395857|396112|396113|396116|396234|396242|396243|396245|396255|396522|396523|396524|396526|396527|396529|396531|396533|396541|439015|457123|457126|457709|457710|457718|457719|457726|457728|457731|457733|457741|457757|457759|457760|457761|457763|458123|458130|458136|458139|458141|458143|522958|522963|523184|523186|523194|523197|523422|523426|523543|561867|561872|561876|561879|561880|561881|561883|564574|564575|567313|567315|567317|636523|636524|636525|636526|636527|636528|636529|636530|636531|636532|651756|651882|683959|687156|689896|692339|819933|834020|834021|834022|834023|834024|834025|834026|834027|834028|834029|924976|924977|924978|934057|934058|934059|934060|934061|945814|945815|945816|945817|945818|945819|945820|955270|955271|955272", "text": "Ciliary dyskinesia, primary, 28" }, { - "baseId": "94265|222252|241554|241555|241556|254588|254589|398992|398995|398997|399146|399147|399459|399461|399463|399475|399476|399718|399722|462190|462470|462473|462479|462976|462979|462988|462994|463102|463105|463107|527444|527733|565486|568052|568057|641145|641146|641147|641148|641149|684328|685381|687994|687995|687996|687997|839968|839969|851951|926638|926639|926640|926641|936137|936138|948046|956887|956888|956889|956890|960045", + "upstreamId": "94265|222252|241554|241555|241556|254588|254589|398992|398995|398997|399146|399147|399459|399461|399463|399475|399476|399718|399722|462190|462470|462473|462479|462976|462979|462988|462994|463102|463105|463107|527444|527733|565486|568052|568057|641145|641146|641147|641148|641149|684328|685381|687994|687995|687996|687997|839968|839969|851951|926638|926639|926640|926641|936137|936138|948046|956887|956888|956889|956890|960045", "text": "Ciliary dyskinesia, primary, 27" }, { - "baseId": "94269|94270|205563|533776|857601", + "upstreamId": "94269|94270|205563|533776|857601", "text": "Ciliary dyskinesia, primary, 26" }, { - "baseId": "94271|94272|94273|94274|94275|271315|366397|366398|366399|366452|367034|367039|439637|450680|499936|560992|708066|708067|747352|747353|762966|781193|825789|825790|942627|952952", + "upstreamId": "94271|94272|94273|94274|94275|271315|366397|366398|366399|366452|367034|367039|439637|450680|499936|560992|708066|708067|747352|747353|762966|781193|825789|825790|942627|952952", "text": "Alacrima, achalasia, and mental retardation syndrome" }, { - "baseId": "94274|263260", + "upstreamId": "94274|263260", "text": "Gastroesophageal reflux" }, { - "baseId": "94314|256107|345378", + "upstreamId": "94314|256107|345378", "text": "Immunodeficiency 13" }, { - "baseId": "94315|243992|374023|513626|513627|538439|553390|626235|626236|626237|626238|791438|791439|792795|801563|858761|971011|971012", + "upstreamId": "94315|243992|374023|513626|513627|538439|553390|626235|626236|626237|626238|791438|791439|792795|801563|858761|971011|971012", "text": "Mental retardation, autosomal recessive 38" }, { - "baseId": "94316|187105|215660|259635|404973|590035|861559", + "upstreamId": "94316|187105|215660|259635|404973|590035|861559", "text": "Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome" }, { - "baseId": "94331|94332|94333|970819", + "upstreamId": "94331|94332|94333|970819", "text": "Cole disease" }, { - "baseId": "94334|94335|94336|177793|188055|209190|225836|243875|265066|265173|265174|361253|361254|384417|430926|432099|432100|432101|471006|471007|471013|471017|471018|471979|471980|471993|472204|488165|534935|534937|534962|534964|534967|534969|534972|535075|535197|535198|535199|551349|552265|572589|574006|574009|574010|574011|574015|574897|574899|574901|574903|574912|574913|575451|575452|583209|611459|614510|650205|650209|650213|650214|650215|650217|650225|650226|672120|706317|743476|774210|792502|906198|915069|929812|929813|929818|939683|959506|963194|964906|969322|971502", + "upstreamId": "94334|94335|94336|177793|188055|209190|225836|243875|265066|265173|265174|361253|361254|384417|430926|432099|432100|432101|471006|471007|471013|471017|471018|471979|471980|471993|472204|488165|534935|534937|534962|534964|534967|534969|534972|535075|535197|535198|535199|551349|552265|572589|574006|574009|574010|574011|574015|574897|574899|574901|574903|574912|574913|575451|575452|583209|611459|614510|650205|650209|650213|650214|650215|650217|650225|650226|672120|706317|743476|774210|792502|906198|915069|929812|929813|929818|939683|959506|963194|964906|969322|971502", "text": "Mental retardation, X-linked 98" }, { - "baseId": "94338|94339|919600", + "upstreamId": "94338|94339|919600", "text": "Corneal dystrophy, Fuchs endothelial, 8" }, { - "baseId": "94341|94342|94343|94344|215046|215047|452503|481684|519050|550592|562641|631120|691363|695194|698011|698012|698013|748179|763801|779050|788763|819363|827831|827832|858551|931874|976007", + "upstreamId": "94341|94342|94343|94344|215046|215047|452503|481684|519050|550592|562641|631120|691363|695194|698011|698012|698013|748179|763801|779050|788763|819363|827831|827832|858551|931874|976007", "text": "Microphthalmia, syndromic 12" }, { - "baseId": "94347|455150|455288|456026|456031|521302|521304|521681|521685|521933|521937|521939|560413|560415|560417|560530|560535|560536|563315|563318|563320|565307|565308|565313|614296|634489|634490|634491|634492|634493|634494|634495|699257|699258|699259|721669|721673|721674|735363|749763|782412|819649|831412|831413|831414|831415|831416|831417|831418|831419|831420|924220|924221|924222|933126|933127|944851|944852|954324|954325|959789", + "upstreamId": "94347|455150|455288|456026|456031|521302|521304|521681|521685|521933|521937|521939|560413|560415|560417|560530|560535|560536|563315|563318|563320|565307|565308|565313|614296|634489|634490|634491|634492|634493|634494|634495|699257|699258|699259|721669|721673|721674|735363|749763|782412|819649|831412|831413|831414|831415|831416|831417|831418|831419|831420|924220|924221|924222|933126|933127|944851|944852|954324|954325|959789", "text": "Candidiasis, familial, 8" }, { - "baseId": "94407|457788", + "upstreamId": "94407|457788", "text": "Testicular anomalies with or without congenital heart disease" }, { - "baseId": "94408|94409|94410|94411|94412", + "upstreamId": "94408|94409|94410|94411|94412", "text": "Reticulate acropigmentation of Kitamura" }, { - "baseId": "94414", + "upstreamId": "94414", "text": "Microtia with or without hearing impairment" }, { - "baseId": "94415|94416", + "upstreamId": "94415|94416", "text": "Craniosynostosis 5, susceptibility to" }, { - "baseId": "94417|368674|368822|439518|455159|455801|501087|501096|501777|521626|583098|634512|634513|655701|655706|699265|749775|831459", + "upstreamId": "94417|368674|368822|439518|455159|455801|501087|501096|501777|521626|583098|634512|634513|655701|655706|699265|749775|831459", "text": "Ehlers-Danlos syndrome, musculocontractural type 2" }, { - "baseId": "94418", + "upstreamId": "94418", "text": "Autosomal recessive infantile epilepsy" }, { - "baseId": "94418|181458", + "upstreamId": "94418|181458", "text": "Infantile epilepsy" }, { - "baseId": "94423|94424|220990|260693|439003|448222|448345|448350|448369|448427|516077|516227|516230|557423|612540|628246|628247|628248|650698|690662|690664|690665|690667|690668|690669|690670|690671|690672|690673|818991|824384|824385|824386|824387|930653|942092|952507|964803", + "upstreamId": "94423|94424|220990|260693|439003|448222|448345|448350|448369|448427|516077|516227|516230|557423|612540|628246|628247|628248|650698|690662|690664|690665|690667|690668|690669|690670|690671|690672|690673|818991|824384|824385|824386|824387|930653|942092|952507|964803", "text": "Parkinson disease 19a, juvenile-onset" }, { - "baseId": "94423|172297|421965", + "upstreamId": "94423|172297|421965", "text": "Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus" }, { - "baseId": "94425|205220|225855|227705|227734|384399|404642|424614|434502|536094|538333|550579|608800|654114|677403|789954|798468|802120|861560|963479|963480|964151|976641|980551", + "upstreamId": "94425|205220|225855|227705|227734|384399|404642|424614|434502|536094|538333|550579|608800|654114|677403|789954|798468|802120|861560|963479|963480|964151|976641|980551", "text": "Mental retardation, autosomal dominant 22" }, { - "baseId": "94429|94430|94431|583121", + "upstreamId": "94429|94430|94431|583121", "text": "Deafness and myopia" }, { - "baseId": "94436|94437|801840", + "upstreamId": "94436|94437|801840", "text": "Mental retardation, autosomal recessive 39" }, { - "baseId": "94438|903540|965965", + "upstreamId": "94438|903540|965965", "text": "Periventricular nodular heterotopia 6" }, { - "baseId": "94439", + "upstreamId": "94439", "text": "Deafness, autosomal recessive 76" }, { - "baseId": "94450|108170|404780|431977|431978", + "upstreamId": "94450|108170|404780|431977|431978", "text": "Platelet-type bleeding disorder 17" }, { - "baseId": "94451|508729|790912", + "upstreamId": "94451|508729|790912", "text": "Leukemia, acute lymphoblastic, susceptibility to, 3" }, { - "baseId": "94454|439604|439605|439606|439607|550136|623298|626383|682737|682737|790710|798583|903552|919091|919092|919093|921214|963622|970847|970848|970849|970850|970851", + "upstreamId": "94454|439604|439605|439606|439607|550136|623298|626383|682737|682737|790710|798583|903552|919091|919092|919093|921214|963622|970847|970848|970849|970850|970851", "text": "Kleefstra syndrome 2" }, { - "baseId": "94530|105990|106004|623100", + "upstreamId": "94530|105990|106004|623100", "text": "fluorouracil response - Toxicity/ADR" }, { - "baseId": "94530", + "upstreamId": "94530", "text": "Pyrimidine analogues response - Toxicity/ADR" }, { - "baseId": "94530|106004|623100", + "upstreamId": "94530|106004|623100", "text": "capecitabine response - Toxicity/ADR" }, { - "baseId": "94530|106004", + "upstreamId": "94530|106004", "text": "tegafur response - Toxicity/ADR" }, { - "baseId": "94536|614260|858550", + "upstreamId": "94536|614260|858550", "text": "Diamond-Blackfan anemia 12" }, { - "baseId": "94550", + "upstreamId": "94550", "text": "Multiple fibroadenomas of the breast" }, { - "baseId": "94551|94552|94553|225826|225827|431551|578492|965985|965986", + "upstreamId": "94551|94552|94553|225826|225827|431551|578492|965985|965986", "text": "Van Maldergem syndrome 1" }, { - "baseId": "94554|94555|94556|94557|187954|190563|190579|205286|205286|225862|298419|300776|305161|305266|390647|413396|422002|434101|434102|434104|539166|539167|590731|679792|791431|805104|858668|961320|961531|963169|971008", + "upstreamId": "94554|94555|94556|94557|187954|190563|190579|205286|205286|225862|298419|300776|305161|305266|390647|413396|422002|434101|434102|434104|539166|539167|590731|679792|791431|805104|858668|961320|961531|963169|971008", "text": "Schaaf-Yang syndrome" }, { - "baseId": "94558|94559|94560|94561|94562|94563|367890|367898|406400|513269|513417|578427|612350|790433|802149|802150", + "upstreamId": "94558|94559|94560|94561|94562|94563|367890|367898|406400|513269|513417|578427|612350|790433|802149|802150", "text": "Van Maldergem syndrome 2" }, { - "baseId": "94560|165908|165909|165910|165911|363766|918878|918879", + "upstreamId": "94560|165908|165909|165910|165911|363766|918878|918879", "text": "Hennekam lymphangiectasia-lymphedema syndrome 2" }, { - "baseId": "94568|94569|227259|239219|239222|363675|393828|394016|406288|424892|443446|452323|452496|452800|519252|559489|918830|920192|920193", + "upstreamId": "94568|94569|227259|239219|239222|363675|393828|394016|406288|424892|443446|452323|452496|452800|519252|559489|918830|920192|920193", "text": "Episodic pain syndrome, familial, 2" }, { - "baseId": "94572|513220|789154|816492", + "upstreamId": "94572|513220|789154|816492", "text": "Otofaciocervical syndrome 2" }, { - "baseId": "94573|590590|590591", + "upstreamId": "94573|590590|590591", "text": "Hyperprolactinemia" }, { - "baseId": "94575|94576|446969|446972|448523|448545|514863|514883|514888|514890|514891|514899|514906|516200|516201|516208|516288|556505|556507|556535|556849|556886|557414|626464|626465|628362|690686|695915|706511|706512|706513|707621|718029|729896|731499|731500|745484|801580|822351|822352|822353|822354|824610|824611|918536|921530|921531|922203|930742|930743|930744|939767|941321|942174|960394|977419|977420|977574", + "upstreamId": "94575|94576|446969|446972|448523|448545|514863|514883|514888|514890|514891|514899|514906|516200|516201|516208|516288|556505|556507|556535|556849|556886|557414|626464|626465|628362|690686|695915|706511|706512|706513|707621|718029|729896|731499|731500|745484|801580|822351|822352|822353|822354|824610|824611|918536|921530|921531|922203|930742|930743|930744|939767|941321|942174|960394|977419|977420|977574", "text": "Arthrogryposis, mental retardation, and seizures" }, { - "baseId": "94577|153773", + "upstreamId": "94577|153773", "text": "Macrocephaly/megalencephaly syndrome, autosomal recessive" }, { - "baseId": "94618|167523|167524|433862|452735|452745|453087|453097|453099|453101|453103|453442|519584|519632|519637|519641|519852|519873|519875|559662|561791|563274|563281|563282|609516|614269|631745|631746|631747|631748|631749|631750|631751|631752|631753|631754|631755|631756|631757|631758|631759|631760|631761|651124|651236|708989|708990|708991|720580|720582|730232|734212|734214|734215|744103|748444|748445|748446|759448|764100|764102|764103|764107|774857|779166|781779|781782|781783|787398|828511|828512|828513|828514|828515|828516|828517|828518|828519|828520|828521|828522|828523|828524|828525|828526|828527|828528|828529|859292|923325|923326|923327|923328|923329|923330|932068|932069|932070|932071|932072|940763|943687|943688|943689|953577|953578|953579|961934|981433", + "upstreamId": "94618|167523|167524|433862|452735|452745|453087|453097|453099|453101|453103|453442|519584|519632|519637|519641|519852|519873|519875|559662|561791|563274|563281|563282|609516|614269|631745|631746|631747|631748|631749|631750|631751|631752|631753|631754|631755|631756|631757|631758|631759|631760|631761|651124|651236|708989|708990|708991|720580|720582|730232|734212|734214|734215|744103|748444|748445|748446|759448|764100|764102|764103|764107|774857|779166|781779|781782|781783|787398|828511|828512|828513|828514|828515|828516|828517|828518|828519|828520|828521|828522|828523|828524|828525|828526|828527|828528|828529|859292|923325|923326|923327|923328|923329|923330|932068|932069|932070|932071|932072|940763|943687|943688|943689|953577|953578|953579|961934|981433", "text": "Autoimmune lymphoproliferative syndrome, type III" }, { - "baseId": "94805|94837|94853", + "upstreamId": "94805|94837|94853", "text": "MISMATCH REPAIR CANCER SYNDROME 3" }, { - "baseId": "94964", + "upstreamId": "94964", "text": "Colorectal cancer, early onset" }, { - "baseId": "94992|96714|550665", + "upstreamId": "94992|96714|550665", "text": "Malignant tumor of sigmoid colon" }, { - "baseId": "95421|169841|263323|485951|514022|590085|801162", + "upstreamId": "95421|169841|263323|485951|514022|590085|801162", "text": "Choreoathetosis" }, { - "baseId": "95421|485951", + "upstreamId": "95421|485951", "text": "Aqueductal stenosis" }, { - "baseId": "96064|133250|233596|590605|590607|590608", + "upstreamId": "96064|133250|233596|590605|590607|590608", "text": "Colon polyps" }, { - "baseId": "96098", + "upstreamId": "96098", "text": "Neoplasm of the rectum" }, { - "baseId": "96795|188286|199803|360903|361045|361046", + "upstreamId": "96795|188286|199803|360903|361045|361046", "text": "Respiratory insufficiency" }, { - "baseId": "96795|199803", + "upstreamId": "96795|199803", "text": "Pulmonary insufficiency" }, { - "baseId": "96867", + "upstreamId": "96867", "text": "Retinitis pigmentosa 67" }, { - "baseId": "96871|96872|96873|96874|96875|181288|181289|181290|181291|181293|203228|203228|203241|203242|614419|971044", + "upstreamId": "96871|96872|96873|96874|96875|181288|181289|181290|181291|181293|203228|203228|203241|203242|614419|971044", "text": "DOORS syndrome" }, { - "baseId": "97251|180234", + "upstreamId": "97251|180234", "text": "T Lymphoblastic Leukemia/Lymphoma" }, { - "baseId": "97317|97318|97319|205458|207494|207495|363880|369679|428751|438705|444193|513292|535733|535734|612282|622383|622888|623784|623785|623787|655822|700307|722761|736369|736371|744273|750864|782974|788821|788822|789122|790766|790767|834006|858590|965970|965971|973026|978409|978410|980927", + "upstreamId": "97317|97318|97319|205458|207494|207495|363880|369679|428751|438705|444193|513292|535733|535734|612282|622383|622888|623784|623785|623787|655822|700307|722761|736369|736371|744273|750864|782974|788821|788822|789122|790766|790767|834006|858590|965970|965971|973026|978409|978410|980927", "text": "Asparagine synthetase deficiency" }, { - "baseId": "97322|97323|97324|97325|97326|97327|97328|362110|362111|362112|362113|962801|962802|962803|962841|976827", + "upstreamId": "97322|97323|97324|97325|97326|97327|97328|362110|362111|362112|362113|962801|962802|962803|962841|976827", "text": "Nephrotic syndrome, type 9" }, { - "baseId": "97331|454705|454709|454780|454783|454787|455242|455248|455252|455255|455546|455554|455558|455567|455568|455570|520846|520866|520881|520885|520890|520892|521120|521122|521135|521139|521143|521145|521261|521264|521267|521270|521273|521274|521276|521312|521314|521316|521322|521323|521325|521326|521327|521329|521335|521337|537473|540446|560183|560185|560187|560189|560191|560300|560302|560304|560306|560308|562921|562923|562925|562927|562931|562939|564905|564914|564923|564929|626149|633579|633580|633581|633582|633583|633584|633585|633586|633587|633588|633589|633590|633591|633592|633593|633594|633595|633596|633597|633598|633599|633600|691765|691766|691767|691768|691769|691771|695280|698895|698897|698899|698900|698901|698902|730340|734921|782208|816505|819565|830451|830452|830453|830454|830455|830456|830457|830458|830459|830460|830461|830462|830463|830464|830465|830466|830467|830468|830469|830470|830471|830472|851266|918929|923927|923928|923929|923930|923931|923932|923933|923934|932765|932766|932767|932768|932769|932770|932771|944453|944454|944455|944456|944457|944458|954076|954077|954078", + "upstreamId": "97331|454705|454709|454780|454783|454787|455242|455248|455252|455255|455546|455554|455558|455567|455568|455570|520846|520866|520881|520885|520890|520892|521120|521122|521135|521139|521143|521145|521261|521264|521267|521270|521273|521274|521276|521312|521314|521316|521322|521323|521325|521326|521327|521329|521335|521337|537473|540446|560183|560185|560187|560189|560191|560300|560302|560304|560306|560308|562921|562923|562925|562927|562931|562939|564905|564914|564923|564929|626149|633579|633580|633581|633582|633583|633584|633585|633586|633587|633588|633589|633590|633591|633592|633593|633594|633595|633596|633597|633598|633599|633600|691765|691766|691767|691768|691769|691771|695280|698895|698897|698899|698900|698901|698902|730340|734921|782208|816505|819565|830451|830452|830453|830454|830455|830456|830457|830458|830459|830460|830461|830462|830463|830464|830465|830466|830467|830468|830469|830470|830471|830472|851266|918929|923927|923928|923929|923930|923931|923932|923933|923934|932765|932766|932767|932768|932769|932770|932771|944453|944454|944455|944456|944457|944458|954076|954077|954078", "text": "Distal hereditary motor neuronopathy 2D" }, { - "baseId": "97338|166235|214792|536084", + "upstreamId": "97338|166235|214792|536084", "text": "Split-hand/foot malformation 1" }, { - "baseId": "97339|153683|199889|199890|199891|199892|241893|399928|434940|480527|568296|919544|919545", + "upstreamId": "97339|153683|199889|199890|199891|199892|241893|399928|434940|480527|568296|919544|919545", "text": "Loeys-Dietz syndrome 5" }, { - "baseId": "97423|172145", + "upstreamId": "97423|172145", "text": "Pigmented nodular adrenocortical disease, primary, 4" }, { - "baseId": "97439|214085|214086|214087|447131|447134|447201|515074|515075|515079|515081|515082|515129|515206|556649|626831|626832|626833|626834|626835|626836|626837|626838|626839|626840|626841|626842|626843|696095|718215|718216|731729|745688|745689|745693|758816|761206|761207|761208|822736|822737|822738|822739|822740|822741|822742|822743|822744|822745|822746|822747|850724|918557|921641|921642|921643|921644|930037|930038|930039|930040|930041|941453|952069|952070|952071", + "upstreamId": "97439|214085|214086|214087|447131|447134|447201|515074|515075|515079|515081|515082|515129|515206|556649|626831|626832|626833|626834|626835|626836|626837|626838|626839|626840|626841|626842|626843|696095|718215|718216|731729|745688|745689|745693|758816|761206|761207|761208|822736|822737|822738|822739|822740|822741|822742|822743|822744|822745|822746|822747|850724|918557|921641|921642|921643|921644|930037|930038|930039|930040|930041|941453|952069|952070|952071", "text": "Immunodeficiency 42" }, { - "baseId": "97523", + "upstreamId": "97523", "text": "Worster-Drought syndrome" }, { - "baseId": "97529|97530|97531|481461|626195|677429", + "upstreamId": "97529|97530|97531|481461|626195|677429", "text": "Combined oxidative phosphorylation deficiency 18" }, { - "baseId": "97544|361261|413924|413927|424347|481211|511028|536072|576127|590426|590427|590428|590429|590430|613856|654131|788824|790785|917020|920252|961610|963647|963648|963649|964919|970876|974538", + "upstreamId": "97544|361261|413924|413927|424347|481211|511028|536072|576127|590426|590427|590428|590429|590430|613856|654131|788824|790785|917020|920252|961610|963647|963648|963649|964919|970876|974538", "text": "Verheij syndrome" }, { - "baseId": "97548|378876|625990|625992|905861|983849", + "upstreamId": "97548|378876|625990|625992|905861|983849", "text": "Shukla-Vernon syndrome" }, { - "baseId": "97549|553224|553225|553226|553227|553228|553229|553230|974517|974534", + "upstreamId": "97549|553224|553225|553226|553227|553228|553229|553230|974517|974534", "text": "Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development" }, { - "baseId": "97566|97567", + "upstreamId": "97566|97567", "text": "Alzheimer disease 18" }, { - "baseId": "97587|97588|97589|97590|97591|97592|97593|97594|97595|97596|97597|97598|97599|97600|97601|97602|97603|97604|97605|97606|97607|97608|97609|97610|97611|97612|97613|97614|380469|513996|789378", + "upstreamId": "97587|97588|97589|97590|97591|97592|97593|97594|97595|97596|97597|97598|97599|97600|97601|97602|97603|97604|97605|97606|97607|97608|97609|97610|97611|97612|97613|97614|380469|513996|789378", "text": "Uterine leiomyoma" }, { - "baseId": "97607|214479|362913", + "upstreamId": "97607|214479|362913", "text": "Angiosarcoma" }, { - "baseId": "98157|98158|227292|227293|961951|980458", + "upstreamId": "98157|98158|227292|227293|961951|980458", "text": "Complement factor B deficiency" }, { - "baseId": "98160|98161|98162|653875", + "upstreamId": "98160|98161|98162|653875", "text": "Mental retardation, autosomal recessive 40" }, { - "baseId": "98163|173819|173835|173968|195351|195994|211038|211039|211046|211053|211055|211058|229181|361179|434047|496327|583094", + "upstreamId": "98163|173819|173835|173968|195351|195994|211038|211039|211046|211053|211055|211058|229181|361179|434047|496327|583094", "text": "Cataract 41" }, { - "baseId": "98174", + "upstreamId": "98174", "text": "MCAD deficiency, modifier of" }, { - "baseId": "98234|513942", + "upstreamId": "98234|513942", "text": "Spastic gait" }, { - "baseId": "98258", + "upstreamId": "98258", "text": "Desmoid tumor" }, { - "baseId": "98304|267722|303599|763016|869989|978946", + "upstreamId": "98304|267722|303599|763016|869989|978946", "text": "Hereditary Disorder" }, { - "baseId": "98438|205029|205030|332697", + "upstreamId": "98438|205029|205030|332697", "text": "Glutaric acidemia" }, { - "baseId": "98707|138351|151532|152299|166742|166842|223370|223371|223372|223373|223374|223375|223376|223377|223378|223379|223380|223381|223382|223383|223384|223385|223386|223387|223389|223390|223391|223392|223393|223394|223396|223397|223398|223399|223400|223401|223402|223403|223404|223405|223406|223407|223408|223409|223410|223411|223412|223413|223414|223415|223416|223417|223418|223419|223420|223421|223422|223423|223424|223425|223426|223427|223428|223429|223430|223431|223432|223433|223434|223435|223436|223437|223438|223439|223440|223441|223442|223443|223444|223445|223446|223447|223448|223449|223450|223451|223452|223453|223454|223455|223456|223457|223458|223459|223460|223461|223462|223463|223464|223465|223466|223467|223468|223469|223470|223471|223472|223473|223474|223475|223476|223477|223478|223479|223480|223481|223482|223483|223484|223485|223486|223487|223488|223489|223490|223491|223492|223493|223494|223495|223496|223497|223498|223499|223500|223501|223502|223503|223504|223505|223506|223507|223508|223509|223510|223511|223512|223513|223514|223515|223516|223517|223518|223519|223520|223521|223522|223523|223524|223525|223526|223527|223528|223529|223530|223531|223532|223533|223534|223535|223536|223537|223538|223539|223540|223541|223542|223543|223544|223545|223546|223547|223548|223549|223550|223551|223552|223553|223554|223555|223556|223557|223558|223559|223560|223561|223562|223563|223564|223565|223566|223567|223568|223569|223570|223571|223572|223573|223574|223575|223576|223577|223578|223579|223580|223581|223582|223583|223584|223585|223586|223587|223588|223589|287838|362513|389509|464005|515301|524536|623760|623766|841761|873799|918052|918053|918054|918055|918056|918057|918058|918059|918060|918061|918062|918063|918064|918065|918066|918067|918068|918069|918070|918071|918072|918073|918074|918075|918076|918077|918078|918079|918080|918081|918082|918083|918084|918085|918086|918087|918088|918089|918090|918091|918092|918093|918094|918095|918096|918097|918098|918099|918100|918101|918102|918103|918104|918105|918106|967238", + "upstreamId": "98707|138351|151532|152299|166742|166842|223370|223371|223372|223373|223374|223375|223376|223377|223378|223379|223380|223381|223382|223383|223384|223385|223386|223387|223389|223390|223391|223392|223393|223394|223396|223397|223398|223399|223400|223401|223402|223403|223404|223405|223406|223407|223408|223409|223410|223411|223412|223413|223414|223415|223416|223417|223418|223419|223420|223421|223422|223423|223424|223425|223426|223427|223428|223429|223430|223431|223432|223433|223434|223435|223436|223437|223438|223439|223440|223441|223442|223443|223444|223445|223446|223447|223448|223449|223450|223451|223452|223453|223454|223455|223456|223457|223458|223459|223460|223461|223462|223463|223464|223465|223466|223467|223468|223469|223470|223471|223472|223473|223474|223475|223476|223477|223478|223479|223480|223481|223482|223483|223484|223485|223486|223487|223488|223489|223490|223491|223492|223493|223494|223495|223496|223497|223498|223499|223500|223501|223502|223503|223504|223505|223506|223507|223508|223509|223510|223511|223512|223513|223514|223515|223516|223517|223518|223519|223520|223521|223522|223523|223524|223525|223526|223527|223528|223529|223530|223531|223532|223533|223534|223535|223536|223537|223538|223539|223540|223541|223542|223543|223544|223545|223546|223547|223548|223549|223550|223551|223552|223553|223554|223555|223556|223557|223558|223559|223560|223561|223562|223563|223564|223565|223566|223567|223568|223569|223570|223571|223572|223573|223574|223575|223576|223577|223578|223579|223580|223581|223582|223583|223584|223585|223586|223587|223588|223589|287838|362513|389509|464005|515301|524536|623760|623766|841761|873799|918052|918053|918054|918055|918056|918057|918058|918059|918060|918061|918062|918063|918064|918065|918066|918067|918068|918069|918070|918071|918072|918073|918074|918075|918076|918077|918078|918079|918080|918081|918082|918083|918084|918085|918086|918087|918088|918089|918090|918091|918092|918093|918094|918095|918096|918097|918098|918099|918100|918101|918102|918103|918104|918105|918106|967238", "text": "Premature ovarian failure" }, { - "baseId": "98777|105003|215730|215731|215732", + "upstreamId": "98777|105003|215730|215731|215732", "text": "Bull's eye maculopathy" }, { - "baseId": "98778|360817|513966|514150", + "upstreamId": "98778|360817|513966|514150", "text": "Central scotoma" }, { - "baseId": "98778|360817", + "upstreamId": "98778|360817", "text": "Retinal atrophy" }, { - "baseId": "98872|298910|298986|298989|301373|301403|305742|305746|305974|626155", + "upstreamId": "98872|298910|298986|298989|301373|301403|305742|305746|305974|626155", "text": "Congenital Muscular Dystrophy, LAMA2-related" }, { - "baseId": "98887|226138|360414|501808|514095", + "upstreamId": "98887|226138|360414|501808|514095", "text": "Exercise-induced myalgia" }, { - "baseId": "98887|205181|226138|360414|501808|513930|514063|514095", + "upstreamId": "98887|205181|226138|360414|501808|513930|514063|514095", "text": "Myalgia" }, { - "baseId": "99151|99173|99182|99211|99212|169560|169580|171226|171231|171238|196375|208594|256909|256920|256925|256944|256948|256958|256987|257000|257032|257035|271556|274528|333301|333320|333371|333375|333410|333413|333414|333420|333435|333442|333452|333453|343386|343389|343390|343420|343425|343432|343435|343440|343453|343475|343476|343479|348713|348737|348738|348740|348758|348765|348777|349738|349753|349756|349757|349764|349779|434672|470144|539091|816391|858777", + "upstreamId": "99151|99173|99182|99211|99212|169560|169580|171226|171231|171238|196375|208594|256909|256920|256925|256944|256948|256958|256987|257000|257032|257035|271556|274528|333301|333320|333371|333375|333410|333413|333414|333420|333435|333442|333452|333453|343386|343389|343390|343420|343425|343432|343435|343440|343453|343475|343476|343479|348713|348737|348738|348740|348758|348765|348777|349738|349753|349756|349757|349764|349779|434672|470144|539091|816391|858777", "text": "Multiminicore Disease" }, { - "baseId": "99156|99159|136823|136845|171234|196498|198035|227850|246870|249594|275549|275550|279688|361053|488128|488129|488130|488143|488144|488145", + "upstreamId": "99156|99159|136823|136845|171234|196498|198035|227850|246870|249594|275549|275550|279688|361053|488128|488129|488130|488143|488144|488145", "text": "Malignant hyperthermia" }, { - "baseId": "99159", + "upstreamId": "99159", "text": "Myopathy, progressive axial with cataracts" }, { - "baseId": "99159|260246|361054", + "upstreamId": "99159|260246|361054", "text": "Developmental dysplasia of the hip" }, { - "baseId": "99159|361054", + "upstreamId": "99159|361054", "text": "Generalized muscle weakness" }, { - "baseId": "99334|99335", + "upstreamId": "99334|99335", "text": "Nicotine addiction, protection against" }, { - "baseId": "99373|338995|352104", + "upstreamId": "99373|338995|352104", "text": "Fanconi Anemia, X-Linked" }, { - "baseId": "99373|187363|338995|352104|622117", + "upstreamId": "99373|187363|338995|352104|622117", "text": "VACTERL association with hydrocephalus" }, { - "baseId": "99410|101295|101297|134224|134225|134226|134227|134228|134229|134230|134231|134232|140496|202767|202775|202777|202784|203262|203276|203280|203281|203288|320006|320007|320010|320014|320016|324885|324886|324887|324893|324895|324896|324903|324904|326766|328567|328568|328571|328572|328578|334497|334502|334506|334507|334510|334518|335053|335056|335059|336965|336972|341059|341060|341073|341075|342609|342612|342613|342620|353338", + "upstreamId": "99410|101295|101297|134224|134225|134226|134227|134228|134229|134230|134231|134232|140496|202767|202775|202777|202784|203262|203276|203280|203281|203288|320006|320007|320010|320014|320016|324885|324886|324887|324893|324895|324896|324903|324904|326766|328567|328568|328571|328572|328578|334497|334502|334506|334507|334510|334518|335053|335056|335059|336965|336972|341059|341060|341073|341075|342609|342612|342613|342620|353338", "text": "Neuronal Ceroid-Lipofuscinosis, Dominant/Recessive" }, { - "baseId": "99456|249397|276421|276422|276430|276436|276449|276467|276468|276481|276654|276661|276692|277165|277200|277212|277217|277239|277292|277301|277315|277324|277327|277334|277341|277346|279716|280963|280965|281107|434672|858780", + "upstreamId": "99456|249397|276421|276422|276430|276436|276449|276467|276468|276481|276654|276661|276692|277165|277200|277212|277217|277239|277292|277301|277315|277324|277327|277334|277341|277346|279716|280963|280965|281107|434672|858780", "text": "Congenital fiber-type disproportion" }, { - "baseId": "99456|101004|181376|186649|188272|237087|249397|259696|271659|276421|276422|276430|276436|276449|276467|276468|276481|276654|276661|276692|277165|277200|277212|277217|277239|277292|277301|277315|277324|277327|277334|277341|277346|279716|280963|280965|281107|357230|434571|442935|442968|448783|486874|486887|486889|486940|511331|516394|516477|541416|541466|541518|541562|541648|541687|541733|541761|559236|559286|621094|621095|621096|621097|621099|621711|905884|915016|916831|916832|963250", + "upstreamId": "99456|101004|181376|186649|188272|237087|249397|259696|271659|276421|276422|276430|276436|276449|276467|276468|276481|276654|276661|276692|277165|277200|277212|277217|277239|277292|277301|277315|277324|277327|277334|277341|277346|279716|280963|280965|281107|357230|434571|442935|442968|448783|486874|486887|486889|486940|511331|516394|516477|541416|541466|541518|541562|541648|541687|541733|541761|559236|559286|621094|621095|621096|621097|621099|621711|905884|915016|916831|916832|963250", "text": "Nemaline myopathy" }, { - "baseId": "99689|99690|99691|99692|177632|192310|194050|194592|195109|195632|247081|254527|254529|254530|254531|254533|254534|254535|254540|254542|254543|254545|254548|254554|254555|254556|254558|254559|254562|254563|254566|267804|267844|268275|269225|271988|317256|317257|317259|317260|317264|317265|317266|317270|317272|317277|317278|324975|324976|324977|324987|324995|325000|325001|325004|325007|325014|325016|325017|325018|325020|325021|325022|325023|331093|331094|331121|331130|331131|331132|331136|331137|331156|331162|331165|331166|331169|331171|332678|332679|332683|332685|332690|332693|353246|373063|408664|503887|504176|504204|504206|504216|504453|504905|537882|537897|584158|585420|587799|769129|839947|869891|869892|869893|869894|869895|869896|869897|869898|869899|869900|869901|869902|869903|869904|869905|869906|872244|872245|872246|872247|872248|872249", + "upstreamId": "99689|99690|99691|99692|177632|192310|194050|194592|195109|195632|247081|254527|254529|254530|254531|254533|254534|254535|254540|254542|254543|254545|254548|254554|254555|254556|254558|254559|254562|254563|254566|267804|267844|268275|269225|271988|317256|317257|317259|317260|317264|317265|317266|317270|317272|317277|317278|324975|324976|324977|324987|324995|325000|325001|325004|325007|325014|325016|325017|325018|325020|325021|325022|325023|331093|331094|331121|331130|331131|331132|331136|331137|331156|331162|331165|331166|331169|331171|332678|332679|332683|332685|332690|332693|353246|373063|408664|503887|504176|504204|504206|504216|504453|504905|537882|537897|584158|585420|587799|769129|839947|869891|869892|869893|869894|869895|869896|869897|869898|869899|869900|869901|869902|869903|869904|869905|869906|872244|872245|872246|872247|872248|872249", "text": "Type II Collagenopathies" }, { - "baseId": "99791|263249|263250|263276|263280|271861|360939|360955|439633|439634|439635|513964|514016|514074|514211|587369|679897|805140|970520", + "upstreamId": "99791|263249|263250|263276|263280|271861|360939|360955|439633|439634|439635|513964|514016|514074|514211|587369|679897|805140|970520", "text": "Motor delay" }, { - "baseId": "99931|99932|190386|254709|267600|334234|713708|744914|769278|769279|840220|840221|851957|979290|979291|979292|979293", + "upstreamId": "99931|99932|190386|254709|267600|334234|713708|744914|769278|769279|840220|840221|851957|979290|979291|979292|979293", "text": "Sanfilippo disease" }, { - "baseId": "100016|181451|196242|207089|367600|434634|490210|496932|513979|621017|621021|621023|621027|621031|621034|621035|621036", + "upstreamId": "100016|181451|196242|207089|367600|434634|490210|496932|513979|621017|621021|621023|621027|621031|621034|621035|621036", "text": "Cerebellar vermis hypoplasia" }, { - "baseId": "100024|255320|312682|319125|323074|323075|332671|339678|341028|341056|353325", + "upstreamId": "100024|255320|312682|319125|323074|323075|332671|339678|341028|341056|353325", "text": "Nemaline Myopathy, Dominant" }, { - "baseId": "100029|193523|243897|275222|798696|919614|963366", + "upstreamId": "100029|193523|243897|275222|798696|919614|963366", "text": "Autosomal dominant medullary cystic kidney disease with hyperuricemia" }, { - "baseId": "100030|100031|100032|193523|195653|255481|275222|324592|334141|334154|340833|340835|340844|342226|342233|342239|342241|342244|354268", + "upstreamId": "100030|100031|100032|193523|195653|255481|275222|324592|334141|334154|340833|340835|340844|342226|342233|342239|342241|342244|354268", "text": "Uromodulin-associated kidney disease" }, { - "baseId": 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+ "upstreamId": "100165|100168|100175|100181|100182|100183|100185|100189|100190|100199|100201|100207|100212|100214|100216|100218|100222|100223|100225|100228|100229|100243|100245|100248|100253|100254|100261|100264|100269|102570|102574|102577|102580|133838|134392|150222|150223|177684|192759|192909|193183|195128|250783|250787|254126|265545|265920|266446|266936|267002|267681|267696|268176|268214|268748|268817|269053|269711|269978|270059|270711|272050|272648|272649|272867|273335|273377|273720|274494|274907|274982|275299|275308|287144|287148|287149|287157|287158|287164|287169|287171|287172|287173|287877|287896|287898|287899|287900|287903|287904|287906|287911|287912|290424|290428|290429|290430|290443|290454|290461|290463|290470|290471|290719|290721|290727|290728|290729|290742|290745|290746|290750|290759|290760|290761|290765|290767|313659|313661|313662|313663|313667|313669|313673|313674|313675|313679|313680|313681|313682|313686|313691|313693|313701|313702|313704|313705|313706|313708|313709|313712|313717|313720|313725|319863|319873|319874|319881|319882|319884|319886|319893|319898|319903|319906|319907|319915|319916|319925|319928|319930|319943|326019|326020|326023|326024|326025|326029|326031|326041|326051|326053|326059|326076|326101|326107|326108|326111|326137|326138|326139|326145|326995|326997|327003|327005|327012|327013|327018|327021|327039|327040|327044|327045|327047|327048|327050|327051|327052|327053", "text": "Miyoshi myopathy" }, { - "baseId": "100286|165724|165725|166077|166077|166081|460453|524875|525106|569426|590287|623302|650386|650387|695464|798624|818274|818275|836511|836512|836512|852537|903495|964337", + "upstreamId": "100286|165724|165725|166077|166077|166081|460453|524875|525106|569426|590287|623302|650386|650387|695464|798624|818274|818275|836511|836512|836512|852537|903495|964337", "text": "Focal segmental glomerulosclerosis 7" }, { - "baseId": "100811|134271|172217|190060|190061|190062|190063|190064|191040|269203|272656|272923|273883|274174|404758|443198|450899|538966", + "upstreamId": "100811|134271|172217|190060|190061|190062|190063|190064|191040|269203|272656|272923|273883|274174|404758|443198|450899|538966", "text": "Dystonia 27" }, { - "baseId": "101043|101044|101046|177186|194925|195676|249330|249354|249356|249357|270290|270940|272601|275429|275796|275797|275819|275820|275821|275964|275965|275967|489050|489534|489575|492777|549497|556544|584868|586522|586745|587044|626566|626567|706529|718051|745517|745519|761036|778712|780254|822466|822467|822468|822469|822470|822471|822472|850704|921560|929932|929933|929934|929935|941349|941350|941351|941352|941353|941354|952001|959516", + "upstreamId": "101043|101044|101046|177186|194925|195676|249330|249354|249356|249357|270290|270940|272601|275429|275796|275797|275819|275820|275821|275964|275965|275967|489050|489534|489575|492777|549497|556544|584868|586522|586745|587044|626566|626567|706529|718051|745517|745519|761036|778712|780254|822466|822467|822468|822469|822470|822471|822472|850704|921560|929932|929933|929934|929935|941349|941350|941351|941352|941353|941354|952001|959516", "text": "Peroxisome biogenesis disorder, complementation group K" }, { - "baseId": "101181|191188|193572|266783|268688|270409|308311|308317|308318|308319|308320|308328|308329|308332|308334|312724|312726|312735|312736|312737|312743|312744|312747|312748|312751|312752|312765|312768|312769|312771|312787|312793|312794|318605|318606|318613|318614|318616|318617|318619|318620|318627|318628|318635|318636|318637|318638|318640|318641|319156|319158|319161|319171|319172|319173|319182|319195|319201|319202|319203|319204", + "upstreamId": "101181|191188|193572|266783|268688|270409|308311|308317|308318|308319|308320|308328|308329|308332|308334|312724|312726|312735|312736|312737|312743|312744|312747|312748|312751|312752|312765|312768|312769|312771|312787|312793|312794|318605|318606|318613|318614|318616|318617|318619|318620|318627|318628|318635|318636|318637|318638|318640|318641|319156|319158|319161|319171|319172|319173|319182|319195|319201|319202|319203|319204", "text": "Inclusion Body Myopathy, Recessive" }, { - "baseId": "101204|263210|263217|360963|360964|590035|590040|590044|590055|612447|905820", + "upstreamId": "101204|263210|263217|360963|360964|590035|590040|590044|590055|612447|905820", "text": "19 conditions" }, { - "baseId": "101204|437667|792127", + "upstreamId": "101204|437667|792127", "text": "Mental retardation with panhypopituitarism, X-linked" }, { - "baseId": "101232|292712|297538|297540|297567|300173|300992|301008|303928|303952|303985|307361|307363|307369|307578|308615|308639|308641|308646|308648|308651|308668|329461|329474|329481|329484|329497|329498|329516|333272|333926|333959|339755|339757|339759|339770|339774|339778|339780|339785|339795|343356|343374|343375|343885|343913|345498|345511|345513|345518|345519|345527|345535|345536|345545|345573|346830|346833|346837|346840|346841|346847|346878|348650|349196|349200|349209|350128|353493", + "upstreamId": "101232|292712|297538|297540|297567|300173|300992|301008|303928|303952|303985|307361|307363|307369|307578|308615|308639|308641|308646|308648|308651|308668|329461|329474|329481|329484|329497|329498|329516|333272|333926|333959|339755|339757|339759|339770|339774|339778|339780|339785|339795|343356|343374|343375|343885|343913|345498|345511|345513|345518|345519|345527|345535|345536|345545|345573|346830|346833|346837|346840|346841|346847|346878|348650|349196|349200|349209|350128|353493", "text": "Cone-Rod Dystrophy, Dominant" }, { - "baseId": "101232|292712|297538|297540|297567", + "upstreamId": "101232|292712|297538|297540|297567", "text": "Retinal Macular Dystrophy" }, { - "baseId": "101232|292712|297538|297540|297567|301143|308921|308926|308942|308943|308956|309014|309044", + "upstreamId": "101232|292712|297538|297540|297567|301143|308921|308926|308942|308943|308956|309014|309044", "text": "Stargardt Disease, Dominant" }, { - "baseId": "101263|101264|102224|168817|168819|170137|207262|297423|297429|297448|297455|297457|299525|303646|303998|309448|314216|314227|320076|339452|339473|339498|348988|352348|352358|352359|352368|352374|352919|353110|353111|615936|683141|683142|792685|961512", + "upstreamId": "101263|101264|102224|168817|168819|170137|207262|297423|297429|297448|297455|297457|299525|303646|303998|309448|314216|314227|320076|339452|339473|339498|348988|352348|352358|352359|352368|352374|352919|353110|353111|615936|683141|683142|792685|961512", "text": "De Lange syndrome" }, { - "baseId": "101291|301212|308978|456454|481266|481267|481268|502112|561128|635323|695332|750270|765900|832596", + "upstreamId": "101291|301212|308978|456454|481266|481267|481268|502112|561128|635323|695332|750270|765900|832596", "text": "Congenital disorder of glycosylation type 2F" }, { - "baseId": "101414|131818|192025|311812|311814|314617|314618|314620|316267|316270|316274|316275|316277|316303|317377|317378|317417|317421|321290|323463|323625|323707|324085|329769|329777|329787|329793|329835|330592|331039|331041|331097|340848|340854|353213", + "upstreamId": "101414|131818|192025|311812|311814|314617|314618|314620|316267|316270|316274|316275|316277|316303|317377|317378|317417|317421|321290|323463|323625|323707|324085|329769|329777|329787|329793|329835|330592|331039|331041|331097|340848|340854|353213", "text": "Cutis laxa, recessive" }, { - "baseId": "101454|101455|101457|101459|101460|101464|101471|101472|101474|101475|134251|134252|134254|134256|140519|140520|140521|140527|140540|140542|176985|177621|191693|195720|202039|202060|202064|202065|202105|252644|286725|286739|286748|286755|286772|286807|286813|286817|286819|287439|287493|287553|287555|287556|287564|287565|289874|289875|289957|289960|290273|290286|290287|290288|290302|290304|290307|290313|290336|290361|290379|290380|302099|302105|302106|302110|302112|302118|302119|302122|302123|302124|302130|302131|302133|302136|302144|302146|302147|302148|302152|302154|302155|302156|302168|302169|302173|305257|305261|305271|305274|305278|305281|305282|305283|305285|305290|305292|305293|305303|305305|305306|305307|305311|305313|305314|305315|305317|305319|305326|305334|305335|305338|305341|305343|305344|305345|305348|305356|305357|310046|310047|310048|310049|310051|310056|310069|310070|310071|310076|310077|310081|310100|310101|310103|310110|310111|310112|310114|310116|310117|310118|310119|310122|310123|310126|310127|310129|310131|310132|310133|310134|310142|310143|310147|310148|310155|310159|310170|310177|310180|310183|310184|310185|310186|310187|310189|310196|310198|310200|310204|310205|310206|310207|310219|310237|310251|310257|310261|310265", + "upstreamId": "101454|101455|101457|101459|101460|101464|101471|101472|101474|101475|134251|134252|134254|134256|140519|140520|140521|140527|140540|140542|176985|177621|191693|195720|202039|202060|202064|202065|202105|252644|286725|286739|286748|286755|286772|286807|286813|286817|286819|287439|287493|287553|287555|287556|287564|287565|289874|289875|289957|289960|290273|290286|290287|290288|290302|290304|290307|290313|290336|290361|290379|290380|302099|302105|302106|302110|302112|302118|302119|302122|302123|302124|302130|302131|302133|302136|302144|302146|302147|302148|302152|302154|302155|302156|302168|302169|302173|305257|305261|305271|305274|305278|305281|305282|305283|305285|305290|305292|305293|305303|305305|305306|305307|305311|305313|305314|305315|305317|305319|305326|305334|305335|305338|305341|305343|305344|305345|305348|305356|305357|310046|310047|310048|310049|310051|310056|310069|310070|310071|310076|310077|310081|310100|310101|310103|310110|310111|310112|310114|310116|310117|310118|310119|310122|310123|310126|310127|310129|310131|310132|310133|310134|310142|310143|310147|310148|310155|310159|310170|310177|310180|310183|310184|310185|310186|310187|310189|310196|310198|310200|310204|310205|310206|310207|310219|310237|310251|310257|310261|310265", "text": "Pitt-Hopkins-like syndrome" }, { - "baseId": "101563|140118|195446|211373|211380|307148|308143|308151|308164|308165|311342|316839|316886|317274|318388|318389|318392|318394|318402|318863|318872", + "upstreamId": "101563|140118|195446|211373|211380|307148|308143|308151|308164|308165|311342|316839|316886|317274|318388|318389|318392|318394|318402|318863|318872", "text": "Ataxia with Oculomotor Apraxia" }, { - "baseId": "101665|108165|209037|608807|608811|608812|961637", + "upstreamId": "101665|108165|209037|608807|608811|608812|961637", "text": "Lenz microphthalmia syndrome" }, { - "baseId": "101673|305618|305623|305633|305676|308951|309529|309530|309550|309551|309564|309627|309713|314854|314860|314906|314911|314912|314916|314924|314940|314978|315029|353841|623774|626008|860727", + "upstreamId": "101673|305618|305623|305633|305676|308951|309529|309530|309550|309551|309564|309627|309713|314854|314860|314906|314911|314912|314916|314924|314940|314978|315029|353841|623774|626008|860727", "text": "Hypogonadism with anosmia" }, { - "baseId": "101888|177144|181437|237188|319770|328301|328304|334782|336519|372822|372827|373841|426044|463273|485964|504270|527728|527763|566119|567579|641939|641940|688170|695598|702685|730919|769560|769561|784600|840886|840887|840888|840889|840890", + "upstreamId": "101888|177144|181437|237188|319770|328301|328304|334782|336519|372822|372827|373841|426044|463273|485964|504270|527728|527763|566119|567579|641939|641940|688170|695598|702685|730919|769560|769561|784600|840886|840887|840888|840889|840890", "text": "Shaheen syndrome" }, { - "baseId": "102029|172295", + "upstreamId": "102029|172295", "text": "Gillessen-Kaesbach-Nishimura syndrome" }, { - "baseId": "102281|177954|186714|193213|395418|634949|919037|919038|919039|983840", + "upstreamId": "102281|177954|186714|193213|395418|634949|919037|919038|919039|983840", "text": "Polycystic kidney disease 4" }, { - "baseId": "102570|102573|102574|102580|133838|133839|133840|150222|150223|150224|192166|192704|192867|194564|195068|230189|254117|254126|265545|266733|266734|267681|268176|269711|269789|270711|273335|313659|313661|313662|313663|313667|313673|313679|313680|313681|313682|313686|313691|313693|313701|313704|313705|313706|313708|313709|313712|313717|313720|313725|319873|319874|319881|319882|319884|319886|319893|319898|319903|319906|319907|319925|319928|319930|319943|326019|326020|326023|326024|326025|326029|326031|326041|326051|326059|326076|326101|326107|326108|326111|326137|326138|326139|326995|326997|327003|327005|327012|327021|327039|327040|327044|327045|327047|327048|327050|327051|327053|488826|490435|492080|493833|677235|867749|867750|867751|867752|867753|867754|867755|867756|867757|867758|867759|867760|867761|867762|867763|867764|867765|867766|867767|867768|867769|867770|867771|867772|867773|867774|867775|867776|867777|867778|867779|867780", + "upstreamId": "102570|102573|102574|102580|133838|133839|133840|150222|150223|150224|192166|192704|192867|194564|195068|230189|254117|254126|265545|266733|266734|267681|268176|269711|269789|270711|273335|313659|313661|313662|313663|313667|313673|313679|313680|313681|313682|313686|313691|313693|313701|313704|313705|313706|313708|313709|313712|313717|313720|313725|319873|319874|319881|319882|319884|319886|319893|319898|319903|319906|319907|319925|319928|319930|319943|326019|326020|326023|326024|326025|326029|326031|326041|326051|326059|326076|326101|326107|326108|326111|326137|326138|326139|326995|326997|327003|327005|327012|327021|327039|327040|327044|327045|327047|327048|327050|327051|327053|488826|490435|492080|493833|677235|867749|867750|867751|867752|867753|867754|867755|867756|867757|867758|867759|867760|867761|867762|867763|867764|867765|867766|867767|867768|867769|867770|867771|867772|867773|867774|867775|867776|867777|867778|867779|867780", "text": "ANO5-Related Muscle Diseases" }, { - "baseId": "102582", + "upstreamId": "102582", "text": "L-ferritin deficiency" }, { - "baseId": "102583", + "upstreamId": "102583", "text": "L-ferritin deficiency, autosomal recessive" }, { - "baseId": "102585|447083|447197|447259|447260|447262|515055|515056|515105|556623|556625|556911|556913|558100|626766|626767|626768|626769|626770|626771|626772|626773|626774|626775|650580|706628|718155|718156|718157|731639|731640|731641|731643|745623|745624|761144|822654|822655|822656|822657|822658|822659|822660|822661|822662|822663|921619|921620|921621|930014|930015|930016|930017|939770|941426|941427|952044|952045|952046|960403", + "upstreamId": "102585|447083|447197|447259|447260|447262|515055|515056|515105|556623|556625|556911|556913|558100|626766|626767|626768|626769|626770|626771|626772|626773|626774|626775|650580|706628|718155|718156|718157|731639|731640|731641|731643|745623|745624|761144|822654|822655|822656|822657|822658|822659|822660|822661|822662|822663|921619|921620|921621|930014|930015|930016|930017|939770|941426|941427|952044|952045|952046|960403", "text": "Immunodeficiency 16" }, { - "baseId": "102595|141332|141334|141335|141336|141337|237492|237493|237494|237495|237496|237497|430044|962243|963178", + "upstreamId": "102595|141332|141334|141335|141336|141337|237492|237493|237494|237495|237496|237497|430044|962243|963178", "text": "Arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome" }, { - "baseId": "102600|492383|965960", + "upstreamId": "102600|492383|965960", "text": "Fanconi renotubular syndrome 3" }, { - "baseId": "102607|102608|102609|102610|102611|181366|442548|481344|800961", + "upstreamId": "102607|102608|102609|102610|102611|181366|442548|481344|800961", "text": "Long QT syndrome 15" }, { - "baseId": "102652", + "upstreamId": "102652", "text": "Ectodermal dysplasia 7, hair/nail type" }, { - "baseId": "102879|102880|102881|102882|102883|102884", + "upstreamId": "102879|102880|102881|102882|102883|102884", "text": "X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2" }, { - "baseId": "102898", + "upstreamId": "102898", "text": "Spastic paraplegia 72, autosomal dominant" }, { - "baseId": "102899|102900|454575|691722|698800|749234|792752|830230|830231|830232|830233", + "upstreamId": "102899|102900|454575|691722|698800|749234|792752|830230|830231|830232|830233", "text": "Spastic paraplegia 72, autosomal recessive" }, { - "baseId": "102917|102918|513982|550863|624853|677280|793297|920259", + "upstreamId": "102917|102918|513982|550863|624853|677280|793297|920259", "text": "Deafness, autosomal dominant 56" }, { - "baseId": "102927|102927|102929|102936|102937|205136|246920|359473|366339|366340|366531|366534|366536|366600|366603|366606|366608|367176|367190|405713|440069|443233|443235|443236|450794|450802|450997|451000|499897|500106|500142|511418|518154|518157|560567|560569|560571|561269|629787|629788|629789|629790|629791|629792|655441|691121|691122|695141|695142|697522|697523|697524|697525|697526|697527|697528|697529|697530|719823|719824|733424|733426|747563|747565|777266|779036|795220|805306|819150|826184|826185|826186|826187|826188|826189|826190|826191|826192|826193|826194|826195|826196|826197|826198|826199|826200|826201|826202|826203|826204|826205|826206|826207|826208|826209|826210|826211|826212|826213|826214|826215|826216|826217|826218|826219|826220|826221|826222|826223|826224|826225|826226|826227|851418|856168|905051|922689|922690|922691|931288|931289|931290|931291|931292|931293|931294|931295|931296|931297|931298|931299|931300|931301|931302|931303|931304|931305|931306|931307|931308|931309|931310|931311|931312|931313|931314|931315|931316|931317|931318|942792|942793|942794|942795|942796|942797|942798|942799|942800|942801|942802|942803|942804|942805|942806|942807|942808|942809|942810|942811|942812|953034|953035|953036|953037|953038|953039|953040|953041|953042|953043|953044|953045|959635|960470|960471|960472|963355|983852", + "upstreamId": "102927|102927|102929|102936|102937|205136|246920|359473|366339|366340|366531|366534|366536|366600|366603|366606|366608|367176|367190|405713|440069|443233|443235|443236|450794|450802|450997|451000|499897|500106|500142|511418|518154|518157|560567|560569|560571|561269|629787|629788|629789|629790|629791|629792|655441|691121|691122|695141|695142|697522|697523|697524|697525|697526|697527|697528|697529|697530|719823|719824|733424|733426|747563|747565|777266|779036|795220|805306|819150|826184|826185|826186|826187|826188|826189|826190|826191|826192|826193|826194|826195|826196|826197|826198|826199|826200|826201|826202|826203|826204|826205|826206|826207|826208|826209|826210|826211|826212|826213|826214|826215|826216|826217|826218|826219|826220|826221|826222|826223|826224|826225|826226|826227|851418|856168|905051|922689|922690|922691|931288|931289|931290|931291|931292|931293|931294|931295|931296|931297|931298|931299|931300|931301|931302|931303|931304|931305|931306|931307|931308|931309|931310|931311|931312|931313|931314|931315|931316|931317|931318|942792|942793|942794|942795|942796|942797|942798|942799|942800|942801|942802|942803|942804|942805|942806|942807|942808|942809|942810|942811|942812|953034|953035|953036|953037|953038|953039|953040|953041|953042|953043|953044|953045|959635|960470|960471|960472|963355|983852", "text": "Short-rib thoracic dysplasia 10 with or without polydactyly" }, { - "baseId": "102927|102937|189171|189172|189173|189174|189175|246920|359473|366339|366340|366531|366534|366536|366600|366603|366606|366608|367176|367190|405713|440069|443233|443235|443236|450794|450802|450997|451000|499897|500106|500142|511418|518154|518157|560567|560569|560571|561269|629787|629788|629789|629790|629791|629792|655441|691121|691122|695141|695142|697522|697523|697524|697525|697526|697527|697528|697529|697530|719823|719824|733424|733426|747563|747565|777266|779036|795220|805306|819150|826184|826185|826186|826187|826188|826189|826190|826191|826192|826193|826194|826195|826196|826197|826198|826199|826200|826201|826202|826203|826204|826205|826206|826207|826208|826209|826210|826211|826212|826213|826214|826215|826216|826217|826218|826219|826220|826221|826222|826223|826224|826225|826226|826227|851418|856168|905051|905051|922689|922690|922691|931288|931289|931290|931291|931292|931293|931294|931295|931296|931297|931298|931299|931300|931301|931302|931303|931304|931305|931306|931307|931308|931309|931310|931311|931312|931313|931314|931315|931316|931317|931318|942792|942793|942794|942795|942796|942797|942798|942799|942800|942801|942802|942803|942804|942805|942806|942807|942808|942809|942810|942811|942812|953034|953035|953036|953037|953038|953039|953040|953041|953042|953043|953044|953045|959635|960470|960471|960472", + "upstreamId": "102927|102937|189171|189172|189173|189174|189175|246920|359473|366339|366340|366531|366534|366536|366600|366603|366606|366608|367176|367190|405713|440069|443233|443235|443236|450794|450802|450997|451000|499897|500106|500142|511418|518154|518157|560567|560569|560571|561269|629787|629788|629789|629790|629791|629792|655441|691121|691122|695141|695142|697522|697523|697524|697525|697526|697527|697528|697529|697530|719823|719824|733424|733426|747563|747565|777266|779036|795220|805306|819150|826184|826185|826186|826187|826188|826189|826190|826191|826192|826193|826194|826195|826196|826197|826198|826199|826200|826201|826202|826203|826204|826205|826206|826207|826208|826209|826210|826211|826212|826213|826214|826215|826216|826217|826218|826219|826220|826221|826222|826223|826224|826225|826226|826227|851418|856168|905051|905051|922689|922690|922691|931288|931289|931290|931291|931292|931293|931294|931295|931296|931297|931298|931299|931300|931301|931302|931303|931304|931305|931306|931307|931308|931309|931310|931311|931312|931313|931314|931315|931316|931317|931318|942792|942793|942794|942795|942796|942797|942798|942799|942800|942801|942802|942803|942804|942805|942806|942807|942808|942809|942810|942811|942812|953034|953035|953036|953037|953038|953039|953040|953041|953042|953043|953044|953045|959635|960470|960471|960472", "text": "Retinitis pigmentosa 71" }, { - "baseId": "102928|102930|102931|102932|102933|102935|102937", + "upstreamId": "102928|102930|102931|102932|102933|102935|102937", "text": "Short-rib thoracic dysplasia 10 without polydactyly" }, { - "baseId": "102934|102938", + "upstreamId": "102934|102938", "text": "Short-rib thoracic dysplasia 10 with polydactyly" }, { - "baseId": "102939|102940|102941|421690|788831|790826|919180", + "upstreamId": "102939|102940|102941|421690|788831|790826|919180", "text": "Lenz-Majewski hyperostosis syndrome" }, { - "baseId": "102942|102943|102944|102945|102946|102947|102948|102949|102950|458405|458859|458868|458909|458911|458913|459395|459404|502690|524062|562828|563533|565332|565334|637768|692585|692586|695418|700812|700813|700814|711773|744351|751422|835550|835551|835552|835553|857649|934563|934564|955701|955702", + "upstreamId": "102942|102943|102944|102945|102946|102947|102948|102949|102950|458405|458859|458868|458909|458911|458913|459395|459404|502690|524062|562828|563533|565332|565334|637768|692585|692586|695418|700812|700813|700814|711773|744351|751422|835550|835551|835552|835553|857649|934563|934564|955701|955702", "text": "Short-rib thoracic dysplasia 11 with or without polydactyly" }, { - "baseId": "102955|513805|513806|513807", + "upstreamId": "102955|513805|513806|513807", "text": "Joubert syndrome with Jeune asphyxiating thoracic dystrophy" }, { - "baseId": "102956|102957", + "upstreamId": "102956|102957", "text": "Short-rib thoracic dysplasia without polydactyly" }, { - "baseId": "102959|102960|679888|679889|679890|679891", + "upstreamId": "102959|102960|679888|679889|679890|679891", "text": "Congenital dyserythropoietic anemia type type 1B" }, { - "baseId": "102963|102964|102965|102966|102967|102968|107270|107271|107272|107273|264568|373396|373397|373402|374053|374061|374064|374073|374483|374484|374485|376395|414412|414413|414414|414415|414416|414417|414418|414419|414420|414421|414422|414423|414424|414425|414426|433134|504732|504962|504974|505221|505227|505623|726022|799789|799790|799791|799792|799793|799794|799795|799796|801141|801142|801143|801144|801145|801146|801147|801148|801149|801150|801151|801152|801153|801154|801155|801248|801249|981893|981894|981895|981896|981897|981898|981899|981900|981901", + "upstreamId": "102963|102964|102965|102966|102967|102968|107270|107271|107272|107273|264568|373396|373397|373402|374053|374061|374064|374073|374483|374484|374485|376395|414412|414413|414414|414415|414416|414417|414418|414419|414420|414421|414422|414423|414424|414425|414426|433134|504732|504962|504974|505221|505227|505623|726022|799789|799790|799791|799792|799793|799794|799795|799796|801141|801142|801143|801144|801145|801146|801147|801148|801149|801150|801151|801152|801153|801154|801155|801248|801249|981893|981894|981895|981896|981897|981898|981899|981900|981901", "text": "Pulmonary venoocclusive disease 2, autosomal recessive" }, { - "baseId": "102969|371518|372272|461218|461234|461236|461242|461430|461436|461440|461754|461757|461759|461762|462078|526286|526290|526297|526299|526331|526344|526347|526521|526523|526525|526530|526533|526535|526813|526818|526821|526827|564781|565926|565933|565934|567378|567379|567381|570734|570736|570741|570747|570748|570754|570760|640211|640212|640213|640214|640215|640216|640217|640218|640219|640220|640221|640222|640223|640224|652130|652333|652551|687805|693068|695530|695532|768521|768522|777921|796614|820392|820393|820394|838651|838652|838653|838654|838655|838656|838657|838658|838659|838660|838661|838662|838663|838664|838665|838666|838667|851443|921269|926301|926302|926303|926304|926305|926306|935644|935645|935646|935647|941003|947544|947545|947546|947547|956556|956557|956558|959998|959999|960000", + "upstreamId": "102969|371518|372272|461218|461234|461236|461242|461430|461436|461440|461754|461757|461759|461762|462078|526286|526290|526297|526299|526331|526344|526347|526521|526523|526525|526530|526533|526535|526813|526818|526821|526827|564781|565926|565933|565934|567378|567379|567381|570734|570736|570741|570747|570748|570754|570760|640211|640212|640213|640214|640215|640216|640217|640218|640219|640220|640221|640222|640223|640224|652130|652333|652551|687805|693068|695530|695532|768521|768522|777921|796614|820392|820393|820394|838651|838652|838653|838654|838655|838656|838657|838658|838659|838660|838661|838662|838663|838664|838665|838666|838667|851443|921269|926301|926302|926303|926304|926305|926306|935644|935645|935646|935647|941003|947544|947545|947546|947547|956556|956557|956558|959998|959999|960000", "text": "Hereditary sensory neuropathy type IF" }, { - "baseId": "103067|288925|446643|513939|514136|801217", + "upstreamId": "103067|288925|446643|513939|514136|801217", "text": "Hyperammonemia" }, { - "baseId": "103595|431539|514022|514142|590061", + "upstreamId": "103595|431539|514022|514142|590061", "text": "Febrile seizures" }, { - "baseId": "103595", + "upstreamId": "103595", "text": "Hepatosplenomegaly" }, { - "baseId": "103705", + "upstreamId": "103705", "text": "Psoriasis" }, { - "baseId": "103972|104114|133431|360961|476220|679898|679899", + "upstreamId": "103972|104114|133431|360961|476220|679898|679899", "text": "Dementia" }, { - "baseId": "104114|402131|514220", + "upstreamId": "104114|402131|514220", "text": "Memory impairment" }, { - "baseId": "104456|676974|676975|676976|676977", + "upstreamId": "104456|676974|676975|676976|676977", "text": "Night blindness, congenital stationary, type1i" }, { - "baseId": "104561|513994", + "upstreamId": "104561|513994", "text": "Abnormality of retinal pigmentation" }, { - "baseId": "104580", + "upstreamId": "104580", "text": "Adult onset vitelliform dystrophy" }, { - "baseId": "105002|105199|438619", + "upstreamId": "105002|105199|438619", "text": "Abnormal retinal morphology" }, { - "baseId": "105494|188910|188921|189101|406115|431799|967074", + "upstreamId": "105494|188910|188921|189101|406115|431799|967074", "text": "Autosomal dominant retinitis pigmentosa" }, { - "baseId": "105565|105569|105571|105573|105575|190829|190830|314405|314406|314422|314440|314451|321046|321067|321070|327164|327176|327212|328209", + "upstreamId": "105565|105569|105571|105573|105575|190829|190830|314405|314406|314422|314440|314451|321046|321067|321070|327164|327176|327212|328209", "text": "Iron Overload" }, { - "baseId": "105615", + "upstreamId": "105615", "text": "BEST1-Related Disorders" }, { - "baseId": "106004", + "upstreamId": "106004", "text": "leucovorin response - Toxicity/ADR" }, { - "baseId": "106207|361018|361019", + "upstreamId": "106207|361018|361019", "text": "Prolonged bleeding time" }, { - "baseId": "106520|106521|125920|181448|208304|215521|227381|236971|237029|242507|242508|242509|242510|242511|242512|242512|242513|242514|242515|242516|242517|255881|255883|255884|255886|360300|361223|361223|361276|364067|374568|374571|374572|374578|374588|375442|375450|375456|375463|375464|375467|375477|375648|375652|375655|375669|375670|377779|377788|377798|377808|377812|384519|401330|401332|401340|401340|401341|401342|401343|401345|401349|401356|401358|401860|401861|401867|401868|401874|402122|402123|402125|409741|409744|415510|426181|426686|426686|426687|429847|429848|438018|445615|445617|445617|445618|445621|445622|445625|464847|465441|465453|465985|465991|465995|465999|466004|466008|466009|466017|466707|466711|466712|466714|466717|466718|466767|466770|466774|466783|466791|466996|466998|467000|505506|505767|505947|506504|529274|529276|530254|530256|530260|530270|530277|530280|530283|530291|530298|530356|530359|530552|530555|530561|530562|530770|530772|530773|536912|536912|536913|536914|567542|567543|567547|568339|568342|568346|568356|568358|568368|568371|569397|569399|569815|569817|570467|570470|570474|570477|570480|570481|570483|570483|570485|570491|570491|570544|570546|570551|570553|570555|574167|574168|574169|574170|574171|574172|574173|574174|577571|614429|644985|644986|644987|644988|644989|644990|644991|644992|644993|644994|644995|644996|644997|644998|644999|645000|645001|645002|645003|645004|645005|652481|652662|653150|653314|672099|677452|684627|684628|688658|688659|688661|690149|715087|771070|771071|776375|788071|792801|820877|820878|820879|820880|820881|820882|820883|820884|844334|844335|844336|844337|844338|844339|844340|844341|844342|844343|844344|844345|844346|844347|844348|844349|844350|844351|844352|844353|844354|844355|844356|844357|844358|844359|851681|852129|860286|927954|927955|927956|927957|927958|927959|927960|927961|937622|937623|937624|937625|937626|937627|949575|949576|949577|949578|949579|949580|949581|949582|949583|949584|949585|949586|949587|949588|957881|957882|957883|957884|957885|957886|960179", + "upstreamId": "106520|106521|125920|181448|208304|215521|227381|236971|237029|242507|242508|242509|242510|242511|242512|242512|242513|242514|242515|242516|242517|255881|255883|255884|255886|360300|361223|361223|361276|364067|374568|374571|374572|374578|374588|375442|375450|375456|375463|375464|375467|375477|375648|375652|375655|375669|375670|377779|377788|377798|377808|377812|384519|401330|401332|401340|401340|401341|401342|401343|401345|401349|401356|401358|401860|401861|401867|401868|401874|402122|402123|402125|409741|409744|415510|426181|426686|426686|426687|429847|429848|438018|445615|445617|445617|445618|445621|445622|445625|464847|465441|465453|465985|465991|465995|465999|466004|466008|466009|466017|466707|466711|466712|466714|466717|466718|466767|466770|466774|466783|466791|466996|466998|467000|505506|505767|505947|506504|529274|529276|530254|530256|530260|530270|530277|530280|530283|530291|530298|530356|530359|530552|530555|530561|530562|530770|530772|530773|536912|536912|536913|536914|567542|567543|567547|568339|568342|568346|568356|568358|568368|568371|569397|569399|569815|569817|570467|570470|570474|570477|570480|570481|570483|570483|570485|570491|570491|570544|570546|570551|570553|570555|574167|574168|574169|574170|574171|574172|574173|574174|577571|614429|644985|644986|644987|644988|644989|644990|644991|644992|644993|644994|644995|644996|644997|644998|644999|645000|645001|645002|645003|645004|645005|652481|652662|653150|653314|672099|677452|684627|684628|688658|688659|688661|690149|715087|771070|771071|776375|788071|792801|820877|820878|820879|820880|820881|820882|820883|820884|844334|844335|844336|844337|844338|844339|844340|844341|844342|844343|844344|844345|844346|844347|844348|844349|844350|844351|844352|844353|844354|844355|844356|844357|844358|844359|851681|852129|860286|927954|927955|927956|927957|927958|927959|927960|927961|937622|937623|937624|937625|937626|937627|949575|949576|949577|949578|949579|949580|949581|949582|949583|949584|949585|949586|949587|949588|957881|957882|957883|957884|957885|957886|960179", "text": "Spinocerebellar ataxia, autosomal recessive 12" }, { - "baseId": "106528|106529|165532|178621|178622|221983|221984|221985|224395|227338|240821|240823|240824|240825|240826|240827|240828|240829|240830|240831|240832|397324|397334|397345|397346|397352|397353|397354|397363|397368|397373|397536|397545|397546|397551|397553|397554|397556|397559|397757|397759|397761|397763|397777|397779|397780|397790|397794|397868|397881|397888|397902|459540|459797|459799|460028|460030|460033|460036|460037|460040|460041|460052|460166|460168|460172|460176|460178|460180|460449|460451|460452|460458|460459|460461|460463|460913|460924|525103|525252|525255|525265|525266|525277|525418|525514|525515|525516|525727|525729|563503|563850|563856|563858|563863|563866|563868|563870|564422|564667|564674|564680|566392|569405|569732|569733|639051|639052|639053|639054|639055|639056|639057|639058|639059|639060|639061|639062|651970|651999|652003|652004|652115|652257|652320|652324|684187|684188|684189|684190|684191|684192|684193|687659|689984|724009|724010|775683|783659|790970|820226|820227|820228|820229|820230|837075|837076|837077|837078|837079|837080|837081|837082|837083|837084|837085|837086|837087|837088|837089|837090|837091|837092|837093|837094|837095|837096|837097|852263|858454|925884|925885|925886|925887|935123|935124|935125|935126|940962|946988|946989|946990|946991|946992|946993|946994|946995|956133|956134|956135|956136|959938|959939", + "upstreamId": "106528|106529|165532|178621|178622|221983|221984|221985|224395|227338|240821|240823|240824|240825|240826|240827|240828|240829|240830|240831|240832|397324|397334|397345|397346|397352|397353|397354|397363|397368|397373|397536|397545|397546|397551|397553|397554|397556|397559|397757|397759|397761|397763|397777|397779|397780|397790|397794|397868|397881|397888|397902|459540|459797|459799|460028|460030|460033|460036|460037|460040|460041|460052|460166|460168|460172|460176|460178|460180|460449|460451|460452|460458|460459|460461|460463|460913|460924|525103|525252|525255|525265|525266|525277|525418|525514|525515|525516|525727|525729|563503|563850|563856|563858|563863|563866|563868|563870|564422|564667|564674|564680|566392|569405|569732|569733|639051|639052|639053|639054|639055|639056|639057|639058|639059|639060|639061|639062|651970|651999|652003|652004|652115|652257|652320|652324|684187|684188|684189|684190|684191|684192|684193|687659|689984|724009|724010|775683|783659|790970|820226|820227|820228|820229|820230|837075|837076|837077|837078|837079|837080|837081|837082|837083|837084|837085|837086|837087|837088|837089|837090|837091|837092|837093|837094|837095|837096|837097|852263|858454|925884|925885|925886|925887|935123|935124|935125|935126|940962|946988|946989|946990|946991|946992|946993|946994|946995|956133|956134|956135|956136|959938|959939", "text": "Arrhythmogenic right ventricular dysplasia, familial, 13" }, { - "baseId": "106531|106532|106533|626122|626123", + "upstreamId": "106531|106532|106533|626122|626123", "text": "Ataxia, spastic, 3, autosomal recessive" }, { - "baseId": "106534|106535|375921|375926|376057|378200|409937|434661|468094|506320|506339|506351|506352|531269|569055|590637|645906|645907|645908|645909|645910|645911|652779|678073|678082|694086|704147|704148|715463|821043|845348|845349|845350|845351|937936|958113", + "upstreamId": "106534|106535|375921|375926|376057|378200|409937|434661|468094|506320|506339|506351|506352|531269|569055|590637|645906|645907|645908|645909|645910|645911|652779|678073|678082|694086|704147|704148|715463|821043|845348|845349|845350|845351|937936|958113", "text": "Neurodegeneration with brain iron accumulation 6" }, { - "baseId": "106538|106539|106540|106541|106542|106543|106544|106545|106546|106547|106548|214260|214261|214262|214263|214264|214265|214266|214267|214268|214269|359715|369545|369549|369551|370000|370018|370019|370327|370329|371952|407442|428857|428858|428859|432214|432215|439323|444301|457944|457945|458518|502504|502770|523686|523696|524001|524279|562486|562489|563043|564549|568053|568054|568055|568062|637369|637370|637371|655865|655866|655867|692520|692521|692522|700630|700631|711607|736742|751235|766880|777954|792679|801849|819974|819975|819976|819977|834985|834986|834987|834988|834989|834990|834991|834992|834993|834994|834995|834996|834997|834998|834999|835000|835001|835002|835003|835004|835005|835006|835007|835008|835009|835010|835011|835012|835013|835014|835015|835016|835017|835018|835019|835020|835021|852148|852150|852152|906393|925253|934400|934401|934402|934403|934404|934405|934406|934407|934408|934409|934410|934411|940112|946159|946160|946161|946162|946163|946164|946165|946166|946167|946168|946169|946170|946171|955488|955489|955490|955491|955492|955493|955494|959900|960657|970886", + "upstreamId": "106538|106539|106540|106541|106542|106543|106544|106545|106546|106547|106548|214260|214261|214262|214263|214264|214265|214266|214267|214268|214269|359715|369545|369549|369551|370000|370018|370019|370327|370329|371952|407442|428857|428858|428859|432214|432215|439323|444301|457944|457945|458518|502504|502770|523686|523696|524001|524279|562486|562489|563043|564549|568053|568054|568055|568062|637369|637370|637371|655865|655866|655867|692520|692521|692522|700630|700631|711607|736742|751235|766880|777954|792679|801849|819974|819975|819976|819977|834985|834986|834987|834988|834989|834990|834991|834992|834993|834994|834995|834996|834997|834998|834999|835000|835001|835002|835003|835004|835005|835006|835007|835008|835009|835010|835011|835012|835013|835014|835015|835016|835017|835018|835019|835020|835021|852148|852150|852152|906393|925253|934400|934401|934402|934403|934404|934405|934406|934407|934408|934409|934410|934411|940112|946159|946160|946161|946162|946163|946164|946165|946166|946167|946168|946169|946170|946171|955488|955489|955490|955491|955492|955493|955494|959900|960657|970886", "text": "Joubert syndrome 21" }, { - "baseId": "106549|106550|135986|136991|203228|203241|203242|237618|578528|614419|615945|965354", + "upstreamId": "106549|106550|135986|136991|203228|203241|203242|237618|578528|614419|615945|965354", "text": "Deafness, autosomal recessive 86" }, { - "baseId": "106551|106552|247172|264742|430244|430248|430250|430252|438117|468914|470351|470353|471044|491078|491080|496111|533174|574996|574997|611905|623589|626279|716561|728297|728298|757142|776893|778641|791940|847783|852876|929000|929001|938738|938739|950830|960294", + "upstreamId": "106551|106552|247172|264742|430244|430248|430250|430252|438117|468914|470351|470353|471044|491078|491080|496111|533174|574996|574997|611905|623589|626279|716561|728297|728298|757142|776893|778641|791940|847783|852876|929000|929001|938738|938739|950830|960294", "text": "Mental retardation, autosomal recessive 41" }, { - "baseId": "106639|439358|517758|581741|695118|697385|906232", + "upstreamId": "106639|439358|517758|581741|695118|697385|906232", "text": "Joubert syndrome 22" }, { - "baseId": "106640|106641|106642|106643|106644|964531", + "upstreamId": "106640|106641|106642|106643|106644|964531", "text": "Warburg micro syndrome 4" }, { - "baseId": "106646|247524|247525|247526|247527|247528|486778|581227|614497|798777|816009|964564|964737|971169|971603|976675|976702", + "upstreamId": "106646|247524|247525|247526|247527|247528|486778|581227|614497|798777|816009|964564|964737|971169|971603|976675|976702", "text": "Mental retardation 49, X-linked" }, { - "baseId": "106647|190048|190049|247183|260237|264765|264912|377153|377155|377157|377169|377171|377179|377181|378228|378254|378258|378260|378267|378279|378297|378298|378309|378316|378321|378325|378439|378442|379758|379762|410838|410839|446299|446299|446300|469447|469452|470502|471008|471009|471473|471475|471477|507316|507320|507897|508279|508281|533641|533649|533694|533699|533984|534214|534216|571380|571387|571391|571393|572971|573625|573627|580570|580686|611435|614477|648796|648797|648798|648799|648800|648801|694596|705614|705615|705616|773200|773203|773205|788252|792002|818438|821344|848550|848551|848552|848553|848554|851853|858304|929254|929255|939038|939039|939040|939041|939042|951152|951153|951154|951155|958871|958872|958873|963920|971153", + "upstreamId": "106647|190048|190049|247183|260237|264765|264912|377153|377155|377157|377169|377171|377179|377181|378228|378254|378258|378260|378267|378279|378297|378298|378309|378316|378321|378325|378439|378442|379758|379762|410838|410839|446299|446299|446300|469447|469452|470502|471008|471009|471473|471475|471477|507316|507320|507897|508279|508281|533641|533649|533694|533699|533984|534214|534216|571380|571387|571391|571393|572971|573625|573627|580570|580686|611435|614477|648796|648797|648798|648799|648800|648801|694596|705614|705615|705616|773200|773203|773205|788252|792002|818438|821344|848550|848551|848552|848553|848554|851853|858304|929254|929255|939038|939039|939040|939041|939042|951152|951153|951154|951155|958871|958872|958873|963920|971153", "text": "Epileptic encephalopathy, early infantile, 33" }, { - "baseId": "106647|190049|264912|360502|446299|533694|818436|818437|818438", + "upstreamId": "106647|190049|264912|360502|446299|533694|818436|818437|818438", "text": "EEF1A2-related developmental and degenerative epileptic-dyskinetic encephalopathy" }, { - "baseId": "106650|519725|624843|624844", + "upstreamId": "106650|519725|624843|624844", "text": "Cerebellar atrophy with seizures and variable developmental delay" }, { - "baseId": "106766|106767|106768|106769|106770|362382|460530|460534|460541|524923|525139|525288|525463|564486|566137|566140|566145|569470|638709|638710|638711|638712|652245|692769|712134|737322|798918|836600|836601|836602|836603|925735|925736|934943|946808", + "upstreamId": "106766|106767|106768|106769|106770|362382|460530|460534|460541|524923|525139|525288|525463|564486|566137|566140|566145|569470|638709|638710|638711|638712|652245|692769|712134|737322|798918|836600|836601|836602|836603|925735|925736|934943|946808", "text": "Spastic paraplegia 45, autosomal recessive" }, { - "baseId": "106799|106800|106801|106802|106803|153652|205685|205686|274206|360505|553100|553104|622695|622696|622697|906039|919944|920424", + "upstreamId": "106799|106800|106801|106802|106803|153652|205685|205686|274206|360505|553100|553104|622695|622696|622697|906039|919944|920424", "text": "Schwannomatosis 2" }, { - "baseId": "106803|195650|243638|243639|274206|337612|337623|347191|351203|403784|404300|404323|404331|905964", + "upstreamId": "106803|195650|243638|243639|274206|337612|337623|347191|351203|403784|404300|404323|404331|905964", "text": "Schwannomatosis" }, { - "baseId": "106804|106805|106806|106807|153654|166309|166310|243566|538490", + "upstreamId": "106804|106805|106806|106807|153654|166309|166310|243566|538490", "text": "Ataxia-hypogonadism-choroidal dystrophy syndrome" }, { - "baseId": "106810|106811|259938|424657|424658|904756", + "upstreamId": "106810|106811|259938|424657|424658|904756", "text": "Myopathy with extrapyramidal signs" }, { - "baseId": "106815|204348|226724|226725|226726|226727|238106|361523|442109|442138|442159|442168|536981|682833", + "upstreamId": "106815|204348|226724|226725|226726|226727|238106|361523|442109|442138|442159|442168|536981|682833", "text": "Lateral meningocele syndrome" }, { - "baseId": "106818|106819", + "upstreamId": "106818|106819", "text": "Essential pentosuria" }, { - "baseId": "106822|106823|106824|106825|106826|106827|106828|106829|106830", + "upstreamId": "106822|106823|106824|106825|106826|106827|106828|106829|106830", "text": "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome" }, { - "baseId": "106836|206698|206699|427611|446977|446979|447032|447035|447040|514964|514980|556546|556579|556972|626568|626569|626570|690323|690324|690328|690329|690331|690332|690333|694998|731561|822491|822492|921562|921563|929947|929948|941364|941365|952008", + "upstreamId": "106836|206698|206699|427611|446977|446979|447032|447035|447040|514964|514980|556546|556579|556972|626568|626569|626570|690323|690324|690328|690329|690331|690332|690333|694998|731561|822491|822492|921562|921563|929947|929948|941364|941365|952008", "text": "Spastic paraplegia 63, autosomal recessive" }, { - "baseId": "106837|106838|360923|461176|461178|525820|525822|525970|538416|552356|626199|639330|639331|692904|692905|692906|692907|791018|791019|837528|837529|837530|837531|947161|956291", + "upstreamId": "106837|106838|360923|461176|461178|525820|525822|525970|538416|552356|626199|639330|639331|692904|692905|692906|692907|791018|791019|837528|837529|837530|837531|947161|956291", "text": "Spastic paraplegia 64, autosomal recessive" }, { - "baseId": "106840|465134|465810|530071|567469|569576|652512|693800|693801|703534|820775|927581|937254", + "upstreamId": "106840|465134|465810|530071|567469|569576|652512|693800|693801|703534|820775|927581|937254", "text": "Spastic paraplegia 61, autosomal recessive" }, { - "baseId": "106842|136319|224698|224699|224700|224701|224702|427971|427973|427974|427977|427978|427980|450174|450176|450349|450371|450374|450375|482304|495391|517481|517599|517766|538959|557804|559514|559516|629252|629253|629254|629255|677412|690995|690996|690998|690999|691000|691001|691002|695113|695114|695115|697227|759083|762757|790145|790146|825535|825536|825537|903514|922502|922503|970731|970732", + "upstreamId": "106842|136319|224698|224699|224700|224701|224702|427971|427973|427974|427977|427978|427980|450174|450176|450349|450371|450374|450375|482304|495391|517481|517599|517766|538959|557804|559514|559516|629252|629253|629254|629255|677412|690995|690996|690998|690999|691000|691001|691002|695113|695114|695115|697227|759083|762757|790145|790146|825535|825536|825537|903514|922502|922503|970731|970732", "text": "Mental retardation, autosomal recessive 42" }, { - "baseId": "107055|514019", + "upstreamId": "107055|514019", "text": "Connective tissue nevi" }, { - "baseId": "107137", + "upstreamId": "107137", "text": "COL3A1-Related Disorder" }, { - "baseId": "107245|514122|535051|574322", + "upstreamId": "107245|514122|535051|574322", "text": "Retinitis pigmentosa 23" }, { - "baseId": "107246|107247|107248|107249", + "upstreamId": "107246|107247|107248|107249", "text": "Richieri Costa-Pereira syndrome" }, { - "baseId": "108167|971170", + "upstreamId": "108167|971170", "text": "Deafness, X-linked 6" }, { - "baseId": "108185", + "upstreamId": "108185", "text": "Congenital disorder of glycosylation type 1w" }, { - "baseId": "108187|167509|457850|458503|458505|458506|458914|458915|523888|523894|524145|524152|524157|524164|524168|524170|524171|524183|538400|538401|562418|565120|565125|565127|565133|567925|622392|637203|637204|637205|637206|637207|637208|637209|637210|637211|637212|637213|637214|637215|637216|651787|651799|651896|700592|711537|711539|723106|730576|736671|736673|736674|744493|751163|751164|751165|751166|751167|751168|783110|790802|834757|834758|834759|834760|834761|834762|834763|834764|834765|834766|852138|925202|925203|934311|934312|934313|934314|934315|934316|946069|946070|946071|946072|946073|946074|955413|955414|959893|959894", + "upstreamId": "108187|167509|457850|458503|458505|458506|458914|458915|523888|523894|524145|524152|524157|524164|524168|524170|524171|524183|538400|538401|562418|565120|565125|565127|565133|567925|622392|637203|637204|637205|637206|637207|637208|637209|637210|637211|637212|637213|637214|637215|637216|651787|651799|651896|700592|711537|711539|723106|730576|736671|736673|736674|744493|751163|751164|751165|751166|751167|751168|783110|790802|834757|834758|834759|834760|834761|834762|834763|834764|834765|834766|852138|925202|925203|934311|934312|934313|934314|934315|934316|946069|946070|946071|946072|946073|946074|955413|955414|959893|959894", "text": "Immunodeficiency 15" }, { - "baseId": "108188|108189|108190|167428", + "upstreamId": "108188|108189|108190|167428", "text": "Palmoplantar keratoderma, nagashima type" }, { - "baseId": "108191|367105|367355|367367|367369|500186|500433|500436|513534|576105|631167|631168|691371|720400|734020|744058|827894|953430", + "upstreamId": "108191|367105|367355|367367|367369|500186|500433|500436|513534|576105|631167|631168|691371|720400|734020|744058|827894|953430", "text": "Congenital disorder of glycosylation type 1x" }, { - "baseId": "108192|538388", + "upstreamId": "108192|538388", "text": "Combined oxidative phosphorylation deficiency 19" }, { - "baseId": "108807|108810|108820|171256|171256|389522|405724|450891|451002|451185|451188|518198|518199|518201|518203|518205|518206|518208|518213|518218|518256|518323|518327|518328|538349|558083|558085|558087|558089|558452|558454|558456|560629|561506|561507|561520|561522|561525|561526|561528|629967|629968|629969|629970|629971|629972|629973|629974|629975|629976|629977|629978|629979|629980|629981|629982|629983|629984|629985|629986|629987|629988|629989|629990|629991|629992|708244|708245|719852|719853|719854|719855|733451|733453|743937|747604|747605|747607|747608|763200|763202|763203|763205|763207|774839|781316|781319|819018|819168|826439|826440|826441|826442|826443|826444|826445|826446|826447|826448|826449|826450|826451|826452|826453|826454|826455|826456|826457|826458|826459|826460|826461|826462|826463|826464|922759|922760|922761|922762|922763|922764|931395|931396|931397|931398|931399|931400|931401|942907|942908|942909|942910|942911|942912|942913|942914|942915|953087|953088", + "upstreamId": "108807|108810|108820|171256|171256|389522|405724|450891|451002|451185|451188|518198|518199|518201|518203|518205|518206|518208|518213|518218|518256|518323|518327|518328|538349|558083|558085|558087|558089|558452|558454|558456|560629|561506|561507|561520|561522|561525|561526|561528|629967|629968|629969|629970|629971|629972|629973|629974|629975|629976|629977|629978|629979|629980|629981|629982|629983|629984|629985|629986|629987|629988|629989|629990|629991|629992|708244|708245|719852|719853|719854|719855|733451|733453|743937|747604|747605|747607|747608|763200|763202|763203|763205|763207|774839|781316|781319|819018|819168|826439|826440|826441|826442|826443|826444|826445|826446|826447|826448|826449|826450|826451|826452|826453|826454|826455|826456|826457|826458|826459|826460|826461|826462|826463|826464|922759|922760|922761|922762|922763|922764|931395|931396|931397|931398|931399|931400|931401|942907|942908|942909|942910|942911|942912|942913|942914|942915|953087|953088", "text": "Familial cold autoinflammatory syndrome 4" }, { - "baseId": "108807|108810|108820|152952|166229|171256|361176|389522|405724|450891|451002|451185|451188|518198|518199|518201|518203|518205|518206|518208|518213|518218|518256|518323|518327|518328|538349|558083|558085|558087|558089|558452|558454|558456|560629|561506|561507|561520|561522|561525|561526|561528|629967|629968|629969|629970|629971|629972|629973|629974|629975|629976|629977|629978|629979|629980|629981|629982|629983|629984|629985|629986|629987|629988|629989|629990|629991|629992|708244|708245|719852|719853|719854|719855|733451|733453|743937|747604|747605|747607|747608|763200|763202|763203|763205|763207|774839|781316|781319|819018|819168|826439|826440|826441|826442|826443|826444|826445|826446|826447|826448|826449|826450|826451|826452|826453|826454|826455|826456|826457|826458|826459|826460|826461|826462|826463|826464|922759|922760|922761|922762|922763|922764|931395|931396|931397|931398|931399|931400|931401|942907|942908|942909|942910|942911|942912|942913|942914|942915|953087|953088|977190", + "upstreamId": "108807|108810|108820|152952|166229|171256|361176|389522|405724|450891|451002|451185|451188|518198|518199|518201|518203|518205|518206|518208|518213|518218|518256|518323|518327|518328|538349|558083|558085|558087|558089|558452|558454|558456|560629|561506|561507|561520|561522|561525|561526|561528|629967|629968|629969|629970|629971|629972|629973|629974|629975|629976|629977|629978|629979|629980|629981|629982|629983|629984|629985|629986|629987|629988|629989|629990|629991|629992|708244|708245|719852|719853|719854|719855|733451|733453|743937|747604|747605|747607|747608|763200|763202|763203|763205|763207|774839|781316|781319|819018|819168|826439|826440|826441|826442|826443|826444|826445|826446|826447|826448|826449|826450|826451|826452|826453|826454|826455|826456|826457|826458|826459|826460|826461|826462|826463|826464|922759|922760|922761|922762|922763|922764|931395|931396|931397|931398|931399|931400|931401|942907|942908|942909|942910|942911|942912|942913|942914|942915|953087|953088|977190", "text": "Autoinflammation with infantile enterocolitis" }, { - "baseId": "125776", + "upstreamId": "125776", "text": "Coronary heart disease 2" }, { - "baseId": "125778", + "upstreamId": "125778", "text": "Alzheimer disease familial 3, with spastic paraparesis" }, { - "baseId": "125779|227803|227805|362510", + "upstreamId": "125779|227803|227805|362510", "text": "efavirenz response - Metabolism/PK" }, { - "baseId": "125790|125791|264545|361846|788885|903601|972794", + "upstreamId": "125790|125791|264545|361846|788885|903601|972794", "text": "Mental retardation, autosomal recessive 27" }, { - "baseId": "125797|214840|247162|411594|411595|411596|446084|469650|470046|470056|470631|481411|532887|533299|533300|539088|570679|572352|572354|572360|573033|573039|574939|647943|647944|647945|647946|647947|647948|653159|694378|694379|694382|694383|694385|694390|694391|694392|704920|704922|704924|728109|772587|786138|797786|958599|964889|964890", + "upstreamId": "125797|214840|247162|411594|411595|411596|446084|469650|470046|470056|470631|481411|532887|533299|533300|539088|570679|572352|572354|572360|573033|573039|574939|647943|647944|647945|647946|647947|647948|653159|694378|694379|694382|694383|694385|694390|694391|694392|704920|704922|704924|728109|772587|786138|797786|958599|964889|964890", "text": "Spastic paraplegia 75, autosomal recessive" }, { - "baseId": "125798", + "upstreamId": "125798", "text": "Morbid obesity and spermatogenic failure" }, { - "baseId": "125809|125810", + "upstreamId": "125809|125810", "text": "Auriculocondylar syndrome 3" }, { - "baseId": "125811|125812|583099", + "upstreamId": "125811|125812|583099", "text": "Question mark ears, isolated" }, { - "baseId": "125813|243979|243980|538976", + "upstreamId": "125813|243979|243980|538976", "text": "Spinocerebellar ataxia, autosomal recessive 15" }, { - "baseId": "125814|125815|125816|260667|260668|260669", + "upstreamId": "125814|125815|125816|260667|260668|260669", "text": "Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis" }, { - "baseId": "125818", + "upstreamId": "125818", "text": "Alzheimer disease 19" }, { - "baseId": "125820|125821|125822|125823|125824|125825|125826|125827|125828|125829|125830|125831|125832|125833|125834|125835|125836|125837|125838|125839|136532|136533|136534|136535|136536|136537|136538|136539", + "upstreamId": "125820|125821|125822|125823|125824|125825|125826|125827|125828|125829|125830|125831|125832|125833|125834|125835|125836|125837|125838|125839|136532|136533|136534|136535|136536|136537|136538|136539", "text": "Hypotension" }, { - "baseId": "125893|125894|125895|125896|125897|125898|125899|125900|125901|187231|361950|361951|361952|410908|424224|469882|470901|470902|471318|471794|513147|534040|534044|534047|534048|534049|534050|534051|534052|534054|534145|534147|534148|534594|534601|534602|571688|571696|573197|573247|573248|573253|573258|573261|573261|573916|573943|578008|613422|649163|649164|649165|649166|649167|649168|649169|649170|649171|649172|649173|649174|649175|649176|649177|653187|653220|717282|717283|728999|729000|729001|742730|786543|789391|849008|849009|849010|849011|849012|849013|849014|849015|849016|849017|849018|849019|849020|849021|849022|853013|929393|929394|929395|939180|939181|939182|939183|939184|939185|939186|941270|941271|951310|951311|951312|951313|951314|951315|951316|951317|951318|951319|951320|951321|961988|961989", + "upstreamId": "125893|125894|125895|125896|125897|125898|125899|125900|125901|187231|361950|361951|361952|410908|424224|469882|470901|470902|471318|471794|513147|534040|534044|534047|534048|534049|534050|534051|534052|534054|534145|534147|534148|534594|534601|534602|571688|571696|573197|573247|573248|573253|573258|573261|573261|573916|573943|578008|613422|649163|649164|649165|649166|649167|649168|649169|649170|649171|649172|649173|649174|649175|649176|649177|653187|653220|717282|717283|728999|729000|729001|742730|786543|789391|849008|849009|849010|849011|849012|849013|849014|849015|849016|849017|849018|849019|849020|849021|849022|853013|929393|929394|929395|939180|939181|939182|939183|939184|939185|939186|941270|941271|951310|951311|951312|951313|951314|951315|951316|951317|951318|951319|951320|951321|961988|961989", "text": "Polyarteritis nodosa, childhoood-onset" }, { - "baseId": "125920|178425|178426|178427|178428|178429|178430|181448|242512|265448|361000|361001|401340|426686|445617|486154|486667|536912|570483|570491|613979|613980|614124|614429|622914|677452|792801|801578|802014|860287|904200|919677|919678|920363|964457|966172", + "upstreamId": "125920|178425|178426|178427|178428|178429|178430|181448|242512|265448|361000|361001|401340|426686|445617|486154|486667|536912|570483|570491|613979|613980|614124|614429|622914|677452|792801|801578|802014|860287|904200|919677|919678|920363|964457|966172", "text": "Epileptic encephalopathy, early infantile, 28" }, { - "baseId": "125922|791022|919312|970927|976011", + "upstreamId": "125922|791022|919312|970927|976011", "text": "Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation" }, { - "baseId": "130975|130977|130978|226421|226422|226423|226424|226425|226426|226427|226428|226429|488160|513209|513643|538466|590083|788909|970529", + "upstreamId": "130975|130977|130978|226421|226422|226423|226424|226425|226426|226427|226428|226429|488160|513209|513643|538466|590083|788909|970529", "text": "Hyperphosphatasia with mental retardation syndrome 4" }, { - "baseId": "130979|133699", + "upstreamId": "130979|133699", "text": "Mitochondrial complex 4 deficiency, nuclear type 12" }, { - "baseId": "130980|130984|354177|360301|375541|679693|976730|976731|976732|976733", + "upstreamId": "130980|130984|354177|360301|375541|679693|976730|976731|976732|976733", "text": "Foveal hypoplasia 2" }, { - "baseId": "130980|679693|800923|800924|800925", + "upstreamId": "130980|679693|800923|800924|800925", "text": "Foveal hypoplasia" }, { - "baseId": "130981|130982", + "upstreamId": "130981|130982", "text": "FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS" }, { - "baseId": "130983", + "upstreamId": "130983", "text": "FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING" }, { - "baseId": "130985|130986", + "upstreamId": "130985|130986", "text": "Foveal hypoplasia 2 and optic nerve misrouting with or without anterior segment dysgenesis" }, { - "baseId": "130987|130988|407794|790933|802171", + "upstreamId": "130987|130988|407794|790933|802171", "text": "Bone marrow failure syndrome 2" }, { - "baseId": "131565", + "upstreamId": "131565", "text": "Microprolactinoma" }, { - "baseId": "131815|131817|131818|131819|131820|131821|131823|131824|131826|131827|195422|195423|195754|207940|207940|207941|214315|214317|214753|214754|254446|254450|316256|316266|316267|316270|316272|316273|316274|323604|323608|323609|323618|323621|323623|323629|329742|329750|329751|329753|329759|329767|329768|329769|331021|331022|331024|331025|331028|331039|353213|684311|869457|869458|869459|869460|869461|869462|869463|869464|869465|869466|869467|869468|869469|869470|869471|869472|869473|869474|869475|869476|869477|869478|869479|872201|872202|872203|872204", + "upstreamId": "131815|131817|131818|131819|131820|131821|131823|131824|131826|131827|195422|195423|195754|207940|207940|207941|214315|214317|214753|214754|254446|254450|316256|316266|316267|316270|316272|316273|316274|323604|323608|323609|323618|323621|323623|323629|329742|329750|329751|329753|329759|329767|329768|329769|331021|331022|331024|331025|331028|331039|353213|684311|869457|869458|869459|869460|869461|869462|869463|869464|869465|869466|869467|869468|869469|869470|869471|869472|869473|869474|869475|869476|869477|869478|869479|872201|872202|872203|872204", "text": "Joubert syndrome 24" }, { - "baseId": "131847|131854|131863|131864|131882|131884", + "upstreamId": "131847|131854|131863|131864|131882|131884", "text": "Coffin Siris/Intellectual Disability" }, { - "baseId": "131912|539026|906285", + "upstreamId": "131912|539026|906285", "text": "Bardet-Biedl syndrome 18" }, { - "baseId": "131927|440822|519372|563013|563020", + "upstreamId": "131927|440822|519372|563013|563020", "text": "Chilblain lupus erythematosus" }, { - "baseId": "131928", + "upstreamId": "131928", "text": "ADAR-Related Disorders" }, { - "baseId": "131960|226766|360884|423236|679896|857382", + "upstreamId": "131960|226766|360884|423236|679896|857382", "text": "Premature ovarian failure 8" }, { - "baseId": "131961|131962|131963|131964|552292|983926", + "upstreamId": "131961|131962|131963|131964|552292|983926", "text": "Premature ovarian failure 9" }, { - "baseId": "131974|131975|131976|131977|578413", + "upstreamId": "131974|131975|131976|131977|578413", "text": "Retinitis pigmentosa 68" }, { - "baseId": "131982", + "upstreamId": "131982", "text": "Sea-blue histiocyte syndrome" }, { - "baseId": "132016", + "upstreamId": "132016", "text": "repeat number of microsatellite" }, { - "baseId": "132017|132018|132019|132020|213562|215770|215771|362143|404770|432229|432230|443836|511613|535702|550358|550359|612714|653870|653871|788787|801989|815960|815984|916962|918983|918984|920215|964264|964265|964823|973096|976651", + "upstreamId": "132017|132018|132019|132020|213562|215770|215771|362143|404770|432229|432230|443836|511613|535702|550358|550359|612714|653870|653871|788787|801989|815960|815984|916962|918983|918984|920215|964264|964265|964823|973096|976651", "text": "Bosch-Boonstra-Schaaf optic atrophy syndrome" }, { - "baseId": "132026|790790", + "upstreamId": "132026|790790", "text": "Renal hypodysplasia/aplasia 2" }, { - "baseId": "132046|132047|132048", + "upstreamId": "132046|132047|132048", "text": "Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities" }, { - "baseId": "132051", + "upstreamId": "132051", "text": "Palmoplantar keratoderma, nonepidermolytic, focal or diffuse" }, { - "baseId": "132052|132053|132054|132055|132056", + "upstreamId": "132052|132053|132054|132055|132056", "text": "Dowling-degos disease 4" }, { - "baseId": "132074", + "upstreamId": "132074", "text": "Sacral agenesis with vertebral anomalies" }, { - "baseId": "132091|133192|137764|137766|137769|152479|183392|260102|337250|360833|361023|430996|434681|575761|575762|575764|575765|575766|575767|575768|575769|575770|575771|575772|575773|575774|575775|575776|575777|575778|575779|575780", + "upstreamId": "132091|133192|137764|137766|137769|152479|183392|260102|337250|360833|361023|430996|434681|575761|575762|575764|575765|575766|575767|575768|575769|575770|575771|575772|575773|575774|575775|575776|575777|575778|575779|575780", "text": "Hereditary cancer" }, { - "baseId": "132103|132104|132133|132167|132191|132191|132204|132225|132237|132239|132250|132251|132267|133574|133576|133581|133585|133593|133601|133601|150777|151423|151688|152122|153698|180742|180754|184239|186220|186222|213153|235267|235276|242362|389266|389282|389283|401785|409517|409519|466178|477493|477581|478191|569950|967155|967208", + "upstreamId": "132103|132104|132133|132167|132191|132191|132204|132225|132237|132239|132250|132251|132267|133574|133576|133581|133585|133593|133601|133601|150777|151423|151688|152122|153698|180742|180754|184239|186220|186222|213153|235267|235276|242362|389266|389282|389283|401785|409517|409519|466178|477493|477581|478191|569950|967155|967208", "text": "Pancreatic cancer 3" }, { - "baseId": "132236|243618|432417|622843", + "upstreamId": "132236|243618|432417|622843", "text": "Anaplastic ependymoma" }, { - "baseId": "132360|238133", + "upstreamId": "132360|238133", "text": "Atrial standstill 2" }, { - "baseId": "132377|132378|132379|132380|132381|132382|132383|132384|132385|132386|132387|132388|132389|132390|132391|132392|132393|132394|132395|132396|132397|132398|132399|132400|132401|132402|243921|243922", + "upstreamId": "132377|132378|132379|132380|132381|132382|132383|132384|132385|132386|132387|132388|132389|132390|132391|132392|132393|132394|132395|132396|132397|132398|132399|132400|132401|132402|243921|243922", "text": "Calcium oxalate urolithiasis" }, { - "baseId": "132418", + "upstreamId": "132418", "text": "Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked" }, { - "baseId": "132462|132466|136585|136586", + "upstreamId": "132462|132466|136585|136586", "text": "Pseudoexfoliation glaucoma" }, { - "baseId": "132580|360047|445221", + "upstreamId": "132580|360047|445221", "text": "Lamellar ichthyosis" }, { - "baseId": "132582|132583", + "upstreamId": "132582|132583", "text": "Eculizumab, poor response to" }, { - "baseId": "132584|132585|132585|132586|201860|201865|214535|225873|243934|259818|389307|406687|614283|788774|798557|801988|858342|858517|918940|970132|980888", + "upstreamId": "132584|132585|132585|132586|201860|201865|214535|225873|243934|259818|389307|406687|614283|788774|798557|801988|858342|858517|918940|970132|980888", "text": "Epileptic encephalopathy, early infantile, 19" }, { - "baseId": "132590|169294|360182|577560|976666", + "upstreamId": "132590|169294|360182|577560|976666", "text": "Polymicrogyria, bilateral perisylvian, autosomal recessive" }, { - "baseId": "132597|132598|132599|375543|375557|375561|550055|550057|567550|568448|570611|715160|726873|801554|820899|820900|844452|844453|844454|844455|844456|927995|960182|961877", + "upstreamId": "132597|132598|132599|375543|375557|375561|550055|550057|567550|568448|570611|715160|726873|801554|820899|820900|844452|844453|844454|844455|844456|927995|960182|961877", "text": "Carbonic anhydrase VA deficiency, hyperammonemia due to" }, { - "baseId": "132603|132604|132605|550317|550318|550319|550320|970788", + "upstreamId": "132603|132604|132605|550317|550318|550319|550320|970788", "text": "Moyamoya disease 6 with achalasia" }, { - "baseId": "132609|132610|207399|213570|359747|369087|406855|511651|623289|788796|802162|964271|967268", + "upstreamId": "132609|132610|207399|213570|359747|369087|406855|511651|623289|788796|802162|964271|967268", "text": "Cortical dysplasia, complex, with other brain malformations 5" }, { - "baseId": "132611|132612|132613|132614|132615|217224|217225|380441|424628|428233|431907|431908|443526|481310|511024|611386|611464|611599|653862|653863|653864|788768|798538|798539|800395|806434|806435|905858|918862|961602|963548|963549|963550|963551|963552|964742|980321|983861", + "upstreamId": "132611|132612|132613|132614|132615|217224|217225|380441|424628|428233|431907|431908|443526|481310|511024|611386|611464|611599|653862|653863|653864|788768|798538|798539|800395|806434|806435|905858|918862|961602|963548|963549|963550|963551|963552|964742|980321|983861", "text": "Mental retardation, autosomal dominant 23" }, { - "baseId": "132623|132624|132625|132626|239239|239241|361614|361615|367282|367651|393595|393614|393635|393638|393642|393643|393651|393652|393841|393847|393848|394043|394047|406334|414945|414946|440823|443487|443492|452488|452740|452744|452747|452750|452771|452773|452774|452776|452807|452810|452813|452815|452834|452837|453027|453040|519373|519378|519382|519384|519385|519386|519388|519390|519400|519403|519565|519567|519570|519575|519586|519607|519609|519611|519622|536649|559020|559022|559024|559026|559028|559030|559550|559552|559554|559556|559558|559560|559562|561642|561644|561646|561648|563026|563041|563046|563048|563053|563054|614266|622501|801799|816450|828257|828258|828259|828260|828261|828262|828263|828264|828265|828266|828267|828268|828269|828270|828271|828272|828273|828274|828275|828276|828277|828278|828279|828280|828281|828282|828283|828284|828285|828286|828287|828288|828289|828290|828291|828292|828293|828294|828295|828296|850948|850950|851394|923243|923244|923245|923246|923247|923248|923249|923250|923251|923252|923253|923254|923255|931996|931997|931998|931999|932000|932001|932002|939947|939948|940758|943599|943600|943601|943602|943603|943604|943605|943606|943607|943608|953516|953517|953518|953519|953520|953521|953522|965441|973019", + "upstreamId": "132623|132624|132625|132626|239239|239241|361614|361615|367282|367651|393595|393614|393635|393638|393642|393643|393651|393652|393841|393847|393848|394043|394047|406334|414945|414946|440823|443487|443492|452488|452740|452744|452747|452750|452771|452773|452774|452776|452807|452810|452813|452815|452834|452837|453027|453040|519373|519378|519382|519384|519385|519386|519388|519390|519400|519403|519565|519567|519570|519575|519586|519607|519609|519611|519622|536649|559020|559022|559024|559026|559028|559030|559550|559552|559554|559556|559558|559560|559562|561642|561644|561646|561648|563026|563041|563046|563048|563053|563054|614266|622501|801799|816450|828257|828258|828259|828260|828261|828262|828263|828264|828265|828266|828267|828268|828269|828270|828271|828272|828273|828274|828275|828276|828277|828278|828279|828280|828281|828282|828283|828284|828285|828286|828287|828288|828289|828290|828291|828292|828293|828294|828295|828296|850948|850950|851394|923243|923244|923245|923246|923247|923248|923249|923250|923251|923252|923253|923254|923255|931996|931997|931998|931999|932000|932001|932002|939947|939948|940758|943599|943600|943601|943602|943603|943604|943605|943606|943607|943608|953516|953517|953518|953519|953520|953521|953522|965441|973019", "text": "Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy" }, { - "baseId": "132633|447773|447781|447972|448104|515775|515788|515896|515897|557023|557252|557293|558475|627749|627750|627751|627752|627753|707348|718916|732390|761871|761872|761874|780671|787145|792716|823870|823871|823872|823873|823874|823875|823876|823877|823878|851297|930464|930465", + "upstreamId": "132633|447773|447781|447972|448104|515775|515788|515896|515897|557023|557252|557293|558475|627749|627750|627751|627752|627753|707348|718916|732390|761871|761872|761874|780671|787145|792716|823870|823871|823872|823873|823874|823875|823876|823877|823878|851297|930464|930465", "text": "Immunodeficiency 22" }, { - "baseId": "132638", + "upstreamId": "132638", "text": "Common variable immunodeficiency 11" }, { - "baseId": "132640|858770", + "upstreamId": "132640|858770", "text": "Atrial fibrillation, familial, 15" }, { - "baseId": "132641|132642|132643|132644|132645|132646|132647|132648|171813|208300|429838|429839|429840|512989|612194", + "upstreamId": "132641|132642|132643|132644|132645|132646|132647|132648|171813|208300|429838|429839|429840|512989|612194", "text": "Spinocerebellar ataxia, autosomal recessive 16" }, { - "baseId": "132663|552604|636201|636202|636204", + "upstreamId": "132663|552604|636201|636202|636204", "text": "Baraitser-Winter syndrome" }, { - "baseId": "132671", + "upstreamId": "132671", "text": "Congenital neutropenia" }, { - "baseId": "132673|132674|132675|237527|432213|790608|798573|964827|965966", + "upstreamId": "132673|132674|132675|237527|432213|790608|798573|964827|965966", "text": "Cortical dysplasia, complex, with other brain malformations 6" }, { - "baseId": "132683|676996|676997|676998|800944", + "upstreamId": "132683|676996|676997|676998|800944", "text": "Oocyte maturation defect 1" }, { - "baseId": "132690|132691|132692|132693|132694|132695|415474|569572|610576|610577|610578|610579|965349", + "upstreamId": "132690|132691|132692|132693|132694|132695|415474|569572|610576|610577|610578|610579|965349", "text": "Desbuquois dysplasia 2" }, { - "baseId": "132705|132706|223356|223357|613847|964812", + "upstreamId": "132705|132706|223356|223357|613847|964812", "text": "Short stature with microcephaly and distinctive facies" }, { - "baseId": "132722", + "upstreamId": "132722", "text": "Fetal hemoglobin quantitative trait locus 5" }, { - "baseId": "132722|247743|247744|247745|247747|247748|414892|495129|511432|550587|614250|621020|621021|822304|961508|964204|964205|976647|980412", + "upstreamId": "132722|247743|247744|247745|247747|247748|414892|495129|511432|550587|614250|621020|621021|822304|961508|964204|964205|976647|980412", "text": "Intellectual developmental disorder with persistence of fetal hemoglobin" }, { - "baseId": "132725|346275|626283|886665", + "upstreamId": "132725|346275|626283|886665", "text": "Cerebral amyloid angiopathy, APP-related" }, { - "baseId": "132920", + "upstreamId": "132920", "text": "Malignant Glioma" }, { - "baseId": "132977|184734|453098|678053|678054|778476", + "upstreamId": "132977|184734|453098|678053|678054|778476", "text": "Ewing's sarcoma" }, { - "baseId": "132980|587562", + "upstreamId": "132980|587562", "text": "Osteoblastic osteosarcoma" }, { - "baseId": "133154|133499|399557|557265|611997|612009", + "upstreamId": "133154|133499|399557|557265|611997|612009", "text": "B Lymphoblastic Leukemia/Lymphoma, Not Otherwise Specified" }, { - "baseId": "133167|151083|235612", + "upstreamId": "133167|151083|235612", "text": "Acute monoblastic leukemia" }, { - "baseId": "133167|151083|235612", + "upstreamId": "133167|151083|235612", "text": "Acute monocytic leukemia" }, { - "baseId": "133177|140203|151416|179958|181812", + "upstreamId": "133177|140203|151416|179958|181812", "text": "Triple-Negative Breast Cancer Finding" }, { - "baseId": "133389|138836|138849|177907|193750|195485|215434|223603|223605|223606|223607|223608|223609|223610|223611|223612|223613|223614|223615|223616|223617|223618|223619|223620|223622|223623|223624|223625|223626|223628|223630|223631|223632|223634|223635|223636|223638|223640|223641|223642|223644|223645|223646|223647|223648|223649|223650|223652|223654|223655|223656|223657|254136|254993|273131|274286|313856|313857|313862|313863|313867|313872|313873|313874|313877|313885|313886|313888|313889|320061|320069|320071|320080|320084|320087|320102|320108|320111|320114|320134|320135|320138|320142|320143|320145|320146|320147|320163|320166|320167|320197|320198|320746|320750|320757|320760|320761|326222|326244|326245|326246|326248|326251|326252|326255|326256|326257|326258|326270|326272|326273|326276|326277|327197|327203|327206|327207|327214|327222|327223|327224|327241|327242|327259|327263|327273|327276|327282|327283|329585|329589|329597|329598|329623|329626|331967|336213|336214|336218|338110|338117|338126|347551|347555|347559|348927|431507|439068|464179|512941|568146|612908|642521|642522|652322|652873|693514|714179|791415|841561|841562|841563|841564|841565|867820|867821|867822|867823|867824|867825|867826|867827|867828|867829|867830|867831|867832|867833|867834|867835|867836|867837|867838|867839|867840|867841|867842|867843|867844|867845|867846|867847|867848|867849|867850|867851|867852|867853|867854|867855|867856|867857|867858|867859|871971|871972|871973|871974|871975|871976|871977|871978|871979|871980|871981|871982|927105|936641|936642|948590|948591|957240", + "upstreamId": "133389|138836|138849|177907|193750|195485|215434|223603|223605|223606|223607|223608|223609|223610|223611|223612|223613|223614|223615|223616|223617|223618|223619|223620|223622|223623|223624|223625|223626|223628|223630|223631|223632|223634|223635|223636|223638|223640|223641|223642|223644|223645|223646|223647|223648|223649|223650|223652|223654|223655|223656|223657|254136|254993|273131|274286|313856|313857|313862|313863|313867|313872|313873|313874|313877|313885|313886|313888|313889|320061|320069|320071|320080|320084|320087|320102|320108|320111|320114|320134|320135|320138|320142|320143|320145|320146|320147|320163|320166|320167|320197|320198|320746|320750|320757|320760|320761|326222|326244|326245|326246|326248|326251|326252|326255|326256|326257|326258|326270|326272|326273|326276|326277|327197|327203|327206|327207|327214|327222|327223|327224|327241|327242|327259|327263|327273|327276|327282|327283|329585|329589|329597|329598|329623|329626|331967|336213|336214|336218|338110|338117|338126|347551|347555|347559|348927|431507|439068|464179|512941|568146|612908|642521|642522|652322|652873|693514|714179|791415|841561|841562|841563|841564|841565|867820|867821|867822|867823|867824|867825|867826|867827|867828|867829|867830|867831|867832|867833|867834|867835|867836|867837|867838|867839|867840|867841|867842|867843|867844|867845|867846|867847|867848|867849|867850|867851|867852|867853|867854|867855|867856|867857|867858|867859|871971|871972|871973|871974|871975|871976|871977|871978|871979|871980|871981|871982|927105|936641|936642|948590|948591|957240", "text": "Anophthalmia-microphthalmia syndrome" }, { - "baseId": "133390|227046|227047|227048|227051|227052|227054|227055|227058|320697|329500|329501|329502|336096|336097|336106|336109|336135|338009|338016|338023|970271|970321", + "upstreamId": "133390|227046|227047|227048|227051|227052|227054|227055|227058|320697|329500|329501|329502|336096|336097|336106|336109|336135|338009|338016|338023|970271|970321", "text": "Orofacial cleft" }, { - "baseId": "133391|133400|590610|609036|609079|677241|974932", + "upstreamId": "133391|133400|590610|609036|609079|677241|974932", "text": "Oligodontia" }, { - "baseId": "133431|476220|801188", + "upstreamId": "133431|476220|801188", "text": "Depressivity" }, { - "baseId": "133488|133495|478800|478922|478937", + "upstreamId": "133488|133495|478800|478922|478937", "text": "Prostate cancer, hereditary, 9" }, { - "baseId": "133499", + "upstreamId": "133499", "text": "Leiomyosarcoma" }, { - "baseId": "133499|470586|590073", + "upstreamId": "133499|470586|590073", "text": "Inflammation of the large intestine" }, { - "baseId": "133499|470586|590073", + "upstreamId": "133499|470586|590073", "text": "Hematochezia" }, { - "baseId": "133499|470586|590073|977163|977164|977313|977314|977316", + "upstreamId": "133499|470586|590073|977163|977164|977313|977314|977316", "text": "Colitis" }, { - "baseId": "133593|214804|214805", + "upstreamId": "133593|214804|214805", "text": "Triple-negative breast cancer" }, { - "baseId": "133658|152476|467801", + "upstreamId": "133658|152476|467801", "text": "Hereditary site-specific ovarian cancer syndrome" }, { - "baseId": "133667|150563", + "upstreamId": "133667|150563", "text": "RAD51C-Related Disorders" }, { - "baseId": "133687|133688|133689|133690|242183|242184|264906|401052|439469|465383|538448|538612|589805|643756|688520|754812|816481|842943|842944|842945|904258|927514|949120|957574", + "upstreamId": "133687|133688|133689|133690|242183|242184|264906|401052|439469|465383|538448|538612|589805|643756|688520|754812|816481|842943|842944|842945|904258|927514|949120|957574", "text": "Congenital heart defects, multiple types, 4" }, { - "baseId": "133696|133697|133698|801541", + "upstreamId": "133696|133697|133698|801541", "text": "Retinitis pigmentosa 69" }, { - "baseId": "133699|801126|801127", + "upstreamId": "133699|801126|801127", "text": "Congenital lactic acidosis" }, { - "baseId": "133709|133710|427722", + "upstreamId": "133709|133710|427722", "text": "Nemaline myopathy 3, autosomal dominant or recessive" }, { - "baseId": "133722|133724|140000|140002|140008|140290|140291|140292|140293|140296|140297|171737|171767|210625|210635|211434|211440|211441|211443|264339|264446|265652|279404|279416|279417|279418|279653|279654|279673|279677|279683|279702|279707|280918|280926|280931|280932|280933|280934|281064|281074|281076|281088|281089|281092|281094|281095|281105|290322|290351|294447|294852|294944|309183|309185|309188|309197|309201|309206|309208|309210|309213|309215|309219|309222|309226|309227|313903|313906|313908|313916|314804|319783|319784|319785|319786|319787|319794|319796|319797|319807|319812|319813|319819|319821|319822|320320|320327|320331|320332|320334|320336|321710|327636|328699|328731|330959|330996|337760|353096|371494|415211|502732|620340|620415|654425|865239|865240|865241|865242|865243|865244|865245|865246|865247|865248|865249|865250|865251|865252|865253|865254|865255|865256|865257|865258", + "upstreamId": "133722|133724|140000|140002|140008|140290|140291|140292|140293|140296|140297|171737|171767|210625|210635|211434|211440|211441|211443|264339|264446|265652|279404|279416|279417|279418|279653|279654|279673|279677|279683|279702|279707|280918|280926|280931|280932|280933|280934|281064|281074|281076|281088|281089|281092|281094|281095|281105|290322|290351|294447|294852|294944|309183|309185|309188|309197|309201|309206|309208|309210|309213|309215|309219|309222|309226|309227|313903|313906|313908|313916|314804|319783|319784|319785|319786|319787|319794|319796|319797|319807|319812|319813|319819|319821|319822|320320|320327|320331|320332|320334|320336|321710|327636|328699|328731|330959|330996|337760|353096|371494|415211|502732|620340|620415|654425|865239|865240|865241|865242|865243|865244|865245|865246|865247|865248|865249|865250|865251|865252|865253|865254|865255|865256|865257|865258", "text": "Autosomal recessive cerebellar ataxia" }, { - "baseId": "133723|139997|140001|140005|210635|210646|279405|279408|279409|279410|279414|279653|279657|279714|279715|280919|280920|280930|280933|280934|280935|280949|280950|280952|281067|281075|281087|281094|281096|281105|353096", + "upstreamId": "133723|139997|140001|140005|210635|210646|279405|279408|279409|279410|279414|279653|279657|279714|279715|280919|280920|280930|280933|280934|280935|280949|280950|280952|281067|281075|281087|281094|281096|281105|353096", "text": "Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type" }, { - "baseId": "133851|465261|539061|919581|919582", + "upstreamId": "133851|465261|539061|919581|919582", "text": "Stuttering, familial persistent 1" }, { - "baseId": "133912|133913|133916|133918|133918|133921|133923|133925|191276|206728|206730|249528|249529|277309|277326|277331|277511|277512|277520|277530|277544|277547|277550|277554|278381|278382|278390|278392|278393|278410|278413|278414|361791|361792|361793|361794|361795|364534|437799|447270|447277|447278|447279|447369|447410|447418|447421|447430|447466|447469|447471|447476|447484|492028|515262|515264|515265|515274|515276|515306|515315|515351|515352|515354|536569|537080|549502|556682|556684|556686|556688|556737|556739|556741|557034|557036|557038|558222|558224|558226|558228|558230|558232|558234|576078|576438|576441|578778|578784|578790|578793|578794|578803|578804|578811|584195|614196|614197|614198|614199|614200|627059|627060|627061|627062|627063|627064|627065|627066|627067|627068|627069|627070|627071|627072|627073|627074|627075|627076|650536|650592|690409|690412|690415|695016|695017|695019|696253|696254|696256|718381|729937|731862|794490|822980|822981|822982|822983|822984|822985|822986|822987|822988|822989|822990|822991|822992|851237|858872|861588|861603|862772|921739|921740|921741|930152|930153|930154|930155|941568|941569|941570|941571|941572|952138|952139|970664", + "upstreamId": "133912|133913|133916|133918|133918|133921|133923|133925|191276|206728|206730|249528|249529|277309|277326|277331|277511|277512|277520|277530|277544|277547|277550|277554|278381|278382|278390|278392|278393|278410|278413|278414|361791|361792|361793|361794|361795|364534|437799|447270|447277|447278|447279|447369|447410|447418|447421|447430|447466|447469|447471|447476|447484|492028|515262|515264|515265|515274|515276|515306|515315|515351|515352|515354|536569|537080|549502|556682|556684|556686|556688|556737|556739|556741|557034|557036|557038|558222|558224|558226|558228|558230|558232|558234|576078|576438|576441|578778|578784|578790|578793|578794|578803|578804|578811|584195|614196|614197|614198|614199|614200|627059|627060|627061|627062|627063|627064|627065|627066|627067|627068|627069|627070|627071|627072|627073|627074|627075|627076|650536|650592|690409|690412|690415|695016|695017|695019|696253|696254|696256|718381|729937|731862|794490|822980|822981|822982|822983|822984|822985|822986|822987|822988|822989|822990|822991|822992|851237|858872|861588|861603|862772|921739|921740|921741|930152|930153|930154|930155|941568|941569|941570|941571|941572|952138|952139|970664", "text": "Spastic paraplegia 78, autosomal recessive" }, { - "baseId": "134067|153138|214797|248716|248717|248718|248720|248721|248722|248723|248725|248726", + "upstreamId": "134067|153138|214797|248716|248717|248718|248720|248721|248722|248723|248725|248726", "text": "Smith-Magenis Syndrome-like" }, { - "baseId": "134329|247629|247631|481312|481313|788839|802172|964839|964840|969252|973028", + "upstreamId": "134329|247629|247631|481312|481313|788839|802172|964839|964840|969252|973028", "text": "Spinocerebellar ataxia, autosomal recessive 17" }, { - "baseId": 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+ "upstreamId": "134370|134371|134374|134375|134376|134377|134378|134379|134380|134382|134383|134384|134385|134386|134387|134388|134389|134390|134391|134744|134745|134746|134747|134748|134749|134750|135818|135819|191403|191807|192104|192643|192971|194228|194619|195513|208055|208056|208057|208058|208060|208062|208063|208065|208080|208083|211852|241764|241769|241770|241772|241773|241774|241775|241776|244872|244875|244877|244885|269783|270736|271447|273633|273697|290468|290473|290676|290677|290678|290681|290682|290705|290713|290716|290717|290722|290723|290724|290730|290769|290777|290850|290852|290853|290857|290859|290864|290874|290876|290881|290883|290884|290898|290921|290929|290930|290935|291359|291366|291368|291370|291610|291612|291613|291614|291616|291631|291634|291637|291638|291659|291690|291804|291819|291822|291824|291825|291826|291829|291831|291842|291843|291844|291860|291861|291867|291869|294596|294788|294791|294792|294798|294804|294809|294834|294841|294849|294851|294858|294870|294881|294913|294987|294990|294996|294998|295004|295006|295010|295014|295017|295018|295019|295031|295035|295090|295092|295133|295134|295145|295146|295184|295194|295195|295201|295212|295213|295214|295216|295219|295220|295221|295244|295247|295250|295278|295360|295364|295365|295367|295387|295390|295391|295403|295440|295442|295444|295448|295449|295450|295452|295454|295458|295460|314745|314758|314765|314766|314768|314769|314773|314777|314784|314785|314786|314790|314793|314796|314797|314801|314803|314804|314810|314812|314814|318796|318797|318808|320125|320127|320129|320133|320136|320139|320141|320150|320151|320152|320153|320157|320169|320170|320171|320175|320177|320179|320180|320185|320188|320192|320194|321466|321471|321474|321475|321487|321496|321497|321499|321503|321514|321516|321517|321519|321524|321528|321543|321546|322533|327154|327155|327156|327175|327601|327602|327604|327605|327608|327615|327618|327627|327628|327630|327631|327633|327634|327636|327638|327641|327643|327644|327646|327648|327650|328661|328671|328674|328678|328687|328689|328693|328694|328698|328701|328702|328706|328711|328715|328719|328720|328722|328723|328724|328725|328727|328728|328729|328730|328731|328733|328735|328738|328742|328743|328745|331889|333294|333300|333302|334858|334880|334982|335003|335012|335014|335029|335329|335332|335333|335337|335339|335340|335347|335351|335352|335353|335354|335355|337184|337203|337208|337210|337211|337213|337220|337222|337241|337247|337249|340964|340967|344752|344754|347879|349344|349709|349717|349719|350354|350701|350714|353320|353476|353477|360956|372921|372953|373589|373596|373963|373973|375800|375814|375821|399527|440800|440809|440811|440812|440820|441640|463468|463518|463781|463784|494949|504329|504375|504609|504899|504900|504903|527926|528406|572635|576738|576742|576760|577345|656218|656223|667162|684426|688189|708880|720472|720473|734086|739119|748286|763917|776244|793015|793016|793021|822094|841049|871609|871610|871611|871612|871613|871614|871615|871616|871617|871618|871619|871620|871621|871622|871623|871624|871625|871626|871627|871628|871629|871630|871631|871632|871633|871634|871635|871636|871637|871638|871639|871640|871641|871642|871643|871644|872350|872351|872352|888973|888974|888975|888976|889096|889097|889098|889099|889100|889101|889117|889118|889119|889120|889121|889122|889123|889124|889143|889144|889177|889223|889224|889225|889226|889227|889228|889229|889230|889231|889232|889233|889234|889235|889236|889242|889243|889244|889245|889246|889247|889248|889249|889250|889251|889252|891654|891655|891656|891657|891658|891659|891660|891661|891662|891673", "text": "Autosomal dominant cerebellar ataxia" }, { - "baseId": "134459|134460|134461|134462|134463|134464|134465|134466|187995|188003|188007|191753|193374|237323|247041|271456|310384|310391|310392|310405|310413|310414|310463|315483|315490|315526|315555|321491|321510|321549|321588|322273|322279|322288|322302|322309|322331", + "upstreamId": "134459|134460|134461|134462|134463|134464|134465|134466|187995|188003|188007|191753|193374|237323|247041|271456|310384|310391|310392|310405|310413|310414|310463|315483|315490|315526|315555|321491|321510|321549|321588|322273|322279|322288|322302|322309|322331", "text": "COFS syndrome" }, { - "baseId": "134655|134656|134657|134658|134659|440927|614542|806437|973086", + "upstreamId": "134655|134656|134657|134658|134659|440927|614542|806437|973086", "text": "Spinocerebellar ataxia, autosomal recessive 13" }, { - "baseId": "134685|206704|253897|276016|276066|276120|276123|276126|276148|276158|276161|276168|276342|276343|306342|306348|317077|317092|323092|323668|323700|335448|335486|335509|335512|335513|335524|345258|345295|345298|349979|349993|350002|350003|350004|351012|351014|351015|351017|351019|351023", + "upstreamId": "134685|206704|253897|276016|276066|276120|276123|276126|276148|276158|276161|276168|276342|276343|306342|306348|317077|317092|323092|323668|323700|335448|335486|335509|335512|335513|335524|345258|345295|345298|349979|349993|350002|350003|350004|351012|351014|351015|351017|351019|351023", "text": "Hyperinsulinism, Dominant" }, { - "baseId": "134822|134823|186088|192927|212626|221753|273689|304117|304124|307707|307719|307730|307735|307738|312746|312877|312886|361439|369691|371499|395886|396284|425775|457807|457808|486611|489373|522984|567360|636578|683972|683974|683975|683976|685233|685234|685236|687181|687182|692345|722840|782989|796116|819944|834108|834109|834110|834111|834112|834113|925008|925009|925010|925011|934087|934088|945849|955287", + "upstreamId": "134822|134823|186088|192927|212626|221753|273689|304117|304124|307707|307719|307730|307735|307738|312746|312877|312886|361439|369691|371499|395886|396284|425775|457807|457808|486611|489373|522984|567360|636578|683972|683974|683975|683976|685233|685234|685236|687181|687182|692345|722840|782989|796116|819944|834108|834109|834110|834111|834112|834113|925008|925009|925010|925011|934087|934088|945849|955287", "text": "Ritscher-Schinzel syndrome" }, { - "baseId": "134861|417075|417076|417077", + "upstreamId": "134861|417075|417076|417077", "text": "Scoliosis, isolated, susceptibility to, 1" }, { - "baseId": "135260|204050|204058|204060|205063|205064|205065|205066|225830|225859|227709|227710|265017|361243|362167|362168|362169|411341|411343|422478|431935|431936|446655|495899|512673|513483|535712|538512|550376|550377|611947|621036|622493|625834|653902|653903|653904|654144|677469|682836|792450|792451|792452|798813|798814|861019|861021|861022|861023|920023|920024|920025|963971|963972|963973|964609|964610|964611|964902|966025|975877|976686|977374|980557", + "upstreamId": "135260|204050|204058|204060|205063|205064|205065|205066|225830|225859|227709|227710|265017|361243|362167|362168|362169|411341|411343|422478|431935|431936|446655|495899|512673|513483|535712|538512|550376|550377|611947|621036|622493|625834|653902|653903|653904|654144|677469|682836|792450|792451|792452|798813|798814|861019|861021|861022|861023|920023|920024|920025|963971|963972|963973|964609|964610|964611|964902|966025|975877|976686|977374|980557", "text": "Mental retardation, X-linked 102" }, { - "baseId": "135345|135347|135348|135349|135350|135354|135355|135356|135358|135360|135363|257446|315309|315310|322157|322158|329503|329528|329543|329552|336425|336432|336446|336457|336462|346145|346164|346165|346167|346171|346174|350463|350466|350478|350481|351516|351519|351522|351533|351538|351539|353587", + "upstreamId": "135345|135347|135348|135349|135350|135354|135355|135356|135358|135360|135363|257446|315309|315310|322157|322158|329503|329528|329543|329552|336425|336432|336446|336457|336462|346145|346164|346165|346167|346171|346174|350463|350466|350478|350481|351516|351519|351522|351533|351538|351539|353587", "text": "Early Infantile Epileptic Encephalopathy, Autosomal Recessive" }, { - "baseId": "135440|236995|237246", + "upstreamId": "135440|236995|237246", "text": "EEG abnormality" }, { - "baseId": "135489|135493|136058|136059|136060|136061|136063|136067|136068|136070|136071|136075|136076|136077|136078|136080|136081|136082|136084|136085|136086|136088|207507|207520|207521|207522|207524|207526|292124|292126|296847|296865|296883|297972|297982|300127|300148|300176|300177|300181|304384|304385|304392|304393|304421|304427|304431|304440|304444|304452|304454|304455|304715|304717|304719|308148|308150|308153|308154|308162|308168|308175|308181|308192|308202|308207|308208|311944|313174|313176|313180|313181|313204|313212|313230|313231|313259|313260|313266|313273|313274|313275|313276|313287|313289|313290|313310|313318|313319|313321|313324|317624|318067|353664|353853", + "upstreamId": "135489|135493|136058|136059|136060|136061|136063|136067|136068|136070|136071|136075|136076|136077|136078|136080|136081|136082|136084|136085|136086|136088|207507|207520|207521|207522|207524|207526|292124|292126|296847|296865|296883|297972|297982|300127|300148|300176|300177|300181|304384|304385|304392|304393|304421|304427|304431|304440|304444|304452|304454|304455|304715|304717|304719|308148|308150|308153|308154|308162|308168|308175|308181|308192|308202|308207|308208|311944|313174|313176|313180|313181|313204|313212|313230|313231|313259|313260|313266|313273|313274|313275|313276|313287|313289|313290|313310|313318|313319|313321|313324|317624|318067|353664|353853", "text": "Intellectual Disability, Recessive" }, { - "baseId": "135500|788841", + "upstreamId": "135500|788841", "text": "Pancreatic agenesis 2" }, { - "baseId": "135506|135513|279278|279286|279295|279301|279343|279491|279493|279494|279509|279534|279535|280795|280799|280804|280813|280845|280860|280873|280874|280875|280878|280923|280958|281836|281837|281838|284108|284129|284307|310250|315334|315350|315390|321364|321996|322000|322047|322051|353539", + "upstreamId": "135506|135513|279278|279286|279295|279301|279343|279491|279493|279494|279509|279534|279535|280795|280799|280804|280813|280845|280860|280873|280874|280875|280878|280923|280958|281836|281837|281838|284108|284129|284307|310250|315334|315350|315390|321364|321996|322000|322047|322051|353539", "text": "Warburg micro syndrome" }, { - "baseId": "135641|217210|217211|217212|217213|552213|553352|919805|919806|966005", + "upstreamId": "135641|217210|217211|217212|217213|552213|553352|919805|919806|966005", "text": "Microcephaly, short stature, and polymicrogyria with or without seizures" }, { - "baseId": "135699|139369|202181|202713|205018|247612|274242|408707|429438|538432|571890|614378|677439|677440", + "upstreamId": "135699|139369|202181|202713|205018|247612|274242|408707|429438|538432|571890|614378|677439|677440", "text": "Seizures, benign familial infantile, 5" }, { - "baseId": "135764|135765|135766|265447|277092|277098|277101|277102|277109|277129|277131|277132|277134|277142|277367|277368|277371|277386|277388|277391|277392|277399|277400|277407|277414|278152|278186|278187|278202|278207|278216|278218|278225|278230|278232|278233|278234|278245|278255|434561", + "upstreamId": "135764|135765|135766|265447|277092|277098|277101|277102|277109|277129|277131|277132|277134|277142|277367|277368|277371|277386|277388|277391|277392|277399|277400|277407|277414|278152|278186|278187|278202|278207|278216|278218|278225|278230|278232|278233|278234|278245|278255|434561", "text": "Thiamine-responsive megaloblastic anemia" }, { - "baseId": "135802|377861|422425|649762|649770|684964|778515|849730|980090", + "upstreamId": "135802|377861|422425|649762|649770|684964|778515|849730|980090", "text": "Creatine deficiency syndrome 1" }, { - "baseId": "136004|512821|553248|622363", + "upstreamId": "136004|512821|553248|622363", "text": "Spinocerebellar ataxia type 17" }, { - "baseId": "136063|963646", + "upstreamId": "136063|963646", "text": "Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome" }, { - "baseId": "136139|136140|141576|141581|141582|141583|142784|142785|142787|142788|142789|142790|142791|211976|338584|348160|348167|348169|351827|351828|351830|351831|351832|352680|352681", + "upstreamId": "136139|136140|141576|141581|141582|141583|142784|142785|142787|142788|142789|142790|142791|211976|338584|348160|348167|348169|351827|351828|351830|351831|351832|352680|352681", "text": "Fatal Infantile Cardioencephalomyopathy" }, { - "baseId": "136364|513893", + "upstreamId": "136364|513893", "text": "Chronic pancreatitis" }, { - "baseId": "136391", + "upstreamId": "136391", "text": "Mitochondrial complex 1 deficiency, nuclear type 28" }, { - "baseId": "136399", + "upstreamId": "136399", "text": "Hearing loss, noise-induced, susceptibility to" }, { - "baseId": "136450|139869|339313|345189|345477|345487|345517", + "upstreamId": "136450|139869|339313|345189|345477|345487|345517", "text": "Breast and Ovarian Cancer Susceptibility" }, { - "baseId": "136501|138844|186099|186108|186113|209861|212720|221873|221902|240679|240690|397026|397440|397495|397507|448122|448169|455980|474983|475013|515929|524729|525191|525316|558529|563347|564225|564311|564323|809550|918641|919242|919243|919244|919245|919246|920213|970914", + "upstreamId": "136501|138844|186099|186108|186113|209861|212720|221873|221902|240679|240690|397026|397440|397495|397507|448122|448169|455980|474983|475013|515929|524729|525191|525316|558529|563347|564225|564311|564323|809550|918641|919242|919243|919244|919245|919246|920213|970914", "text": "BCC1" }, { - "baseId": "136541|136542|488150", + "upstreamId": "136541|136542|488150", "text": "Abdominal obesity-metabolic syndrome 3" }, { - "baseId": "136546|136547|136548|136549|136550|136551|136552|136554|166181|166358|178786|215005|215006|215007|215008|259620|259621|353891|418808|431535|486696|486697|608840|653854|682114|682115|682211|790294|798512|806410|806411|861037|961422|961423|961424|961425|980840", + "upstreamId": "136546|136547|136548|136549|136550|136551|136552|136554|166181|166358|178786|215005|215006|215007|215008|259620|259621|353891|418808|431535|486696|486697|608840|653854|682114|682115|682211|790294|798512|806410|806411|861037|961422|961423|961424|961425|980840", "text": "Visceral myopathy" }, { - "baseId": "136546|136551|136552|136552|205237|214167|616000", + "upstreamId": "136546|136551|136552|136552|205237|214167|616000", "text": "Chronic intestinal pseudoobstruction" }, { - "baseId": "136551|136552", + "upstreamId": "136551|136552", "text": "Visceral neuropathy, familial, autosomal dominant" }, { - "baseId": "136552|205237", + "upstreamId": "136552|205237", "text": "Megacystis" }, { - "baseId": "136558|136559|136560|136561|136562|206698|206699|227578|427611|446977|446979|447032|447035|447040|481335|514964|514980|556546|556579|556972|626091|626568|626569|626570|690323|690324|690328|690329|690331|690332|690333|694998|731561|798911|802116|822491|822492|921562|921563|929947|929948|941364|941365|952008|963345|963346", + "upstreamId": "136558|136559|136560|136561|136562|206698|206699|227578|427611|446977|446979|447032|447035|447040|481335|514964|514980|556546|556579|556972|626091|626568|626569|626570|690323|690324|690328|690329|690331|690332|690333|694998|731561|798911|802116|822491|822492|921562|921563|929947|929948|941364|941365|952008|963345|963346", "text": "Pontocerebellar hypoplasia, type 9" }, { - "baseId": "136583", + "upstreamId": "136583", "text": "Atrophoderma vermiculatum" }, { - "baseId": "136583|918498", + "upstreamId": "136583|918498", "text": "Keratosis pilaris" }, { - "baseId": "136587", + "upstreamId": "136587", "text": "Pyloric stenosis, infantile hypertrophic, 5" }, { - "baseId": "136739", + "upstreamId": "136739", "text": "Multiminicore/minicore/multicore disease" }, { - "baseId": "136760|353882|360892|361048|677243|980754", + "upstreamId": "136760|353882|360892|361048|677243|980754", "text": "Proximal muscle weakness" }, { - "baseId": "136760|361048|625198", + "upstreamId": "136760|361048|625198", "text": "Pelvic girdle muscle weakness" }, { - "baseId": "137030|137031|137032|137033|262391|362364|408455|424898|430956|430957|430958|577194|583112|791163|791167|791168|904173|904174|904175|904176|964121|964367|964369|970944", + "upstreamId": "137030|137031|137032|137033|262391|362364|408455|424898|430956|430957|430958|577194|583112|791163|791167|791168|904173|904174|904175|904176|964121|964367|964369|970944", "text": "Mental retardation, autosomal dominant 24" }, { - "baseId": "137034", + "upstreamId": "137034", "text": "Mitochondrial complex III deficiency, nuclear type 7" }, { - "baseId": "137035|683215|683216", + "upstreamId": "137035|683215|683216", "text": "Mental retardation, autosomal recessive 43" }, { - "baseId": "137053|137054|137055|137056|137057|137058|150445|150447|150448|226663|226664|247006|406937|438747|456104|456106|456440|456445|456452|456806|496877|521872|521875|522237|522243|522248|522272|561022|561123|563827|614307|614308|614309|635314|635315|635316|635317|635318|635319|635320|635321|635322|651683|651685|722155|730437|735788|735789|744153|744157|744290|750248|765889|765890|765891|782676|832590|832591|832592|832593|832594|832595|852042|852311|924522|933531|933532|933533|933534|933535|933536|933537|940052|945253|945254|954931|954932|954933|954934|959821", + "upstreamId": "137053|137054|137055|137056|137057|137058|150445|150447|150448|226663|226664|247006|406937|438747|456104|456106|456440|456445|456452|456806|496877|521872|521875|522237|522243|522248|522272|561022|561123|563827|614307|614308|614309|635314|635315|635316|635317|635318|635319|635320|635321|635322|651683|651685|722155|730437|735788|735789|744153|744157|744290|750248|765889|765890|765891|782676|832590|832591|832592|832593|832594|832595|852042|852311|924522|933531|933532|933533|933534|933535|933536|933537|940052|945253|945254|954931|954932|954933|954934|959821", "text": "Immunodeficiency 23" }, { - "baseId": "137063|137064|137065|260851|424625|424889|431902|481334|488151|536229|536230|538335|538946|550347|550348|576253|578382|621017|626107|654115|696668|788737|789961|789962|789963|798470|802121|805074|815977|918630|963487|964110|969277|969278|970165|975935|977175", + "upstreamId": "137063|137064|137065|260851|424625|424889|431902|481334|488151|536229|536230|538335|538946|550347|550348|576253|578382|621017|626107|654115|696668|788737|789961|789962|789963|798470|802121|805074|815977|918630|963487|964110|969277|969278|970165|975935|977175", "text": "Xia-Gibbs syndrome" }, { - "baseId": "137063|137063|137064|137064|137065|137065", + "upstreamId": "137063|137063|137064|137064|137065|137065", "text": "Sleep apnea" }, { - "baseId": "137063|137064|137065|166182|166183|166184|166185|166186|166187|166188|166189|166190|166191|166192|360874|514192|514215|682760", + "upstreamId": "137063|137064|137065|166182|166183|166184|166185|166186|166187|166188|166189|166190|166191|166192|360874|514192|514215|682760", "text": "Neonatal hypotonia" }, { - "baseId": "137078|462491|462492|462754|463223|463233|527350|527373|527376|527379|527889|567066|641395|641396|641397|702520|713761|738881|769319|820521|840299|840300|917818|936273|936274|956950|956951|956952|956953|964400", + "upstreamId": "137078|462491|462492|462754|463223|463233|527350|527373|527376|527379|527889|567066|641395|641396|641397|702520|713761|738881|769319|820521|840299|840300|917818|936273|936274|956950|956951|956952|956953|964400", "text": "Early infantile epileptic encephalopathy 21" }, { - "baseId": "137082|137083|217219|217220|225875|360894|364064|413748|413749|481792|536739|538395|550181|550361|550790|575490|611414|621025|654130|687091|790751|798589|798590|815988|858740|919110|919111|919112|919113|969327|970863|970864|970865|976654|983796", + "upstreamId": "137082|137083|217219|217220|225875|360894|364064|413748|413749|481792|536739|538395|550181|550361|550790|575490|611414|621025|654130|687091|790751|798589|798590|815988|858740|919110|919111|919112|919113|969327|970863|970864|970865|976654|983796", "text": "Mental retardation, autosomal dominant 26" }, { - "baseId": "137084|407359|457693|457704|457711|458294|458299|458353|458354|458661|510873|523717|523723|523961|523979|532147|532159|562257|567731|614485|637021|683997|687259|834547|834548|834549|955384|980490", + "upstreamId": "137084|407359|457693|457704|457711|458294|458299|458353|458354|458661|510873|523717|523723|523961|523979|532147|532159|562257|567731|614485|637021|683997|687259|834547|834548|834549|955384|980490", "text": "Conotruncal heart malformations" }, { - "baseId": "137086", + "upstreamId": "137086", "text": "Deafness, autosomal recessive 101" }, { - "baseId": "137087|918574", + "upstreamId": "137087|918574", "text": "Giant axonal neuropathy 2, autosomal dominant" }, { - "baseId": "137210|286735|286740|286758|288960|288992|289357", + "upstreamId": "137210|286735|286740|286758|288960|288992|289357", "text": "Neuroblastoma Susceptibility" }, { - "baseId": "137276|473782|550678", + "upstreamId": "137276|473782|550678", "text": "Intrahepatic cholangiocarcinoma" }, { - "baseId": "137297|204041|204042|204043|204044|442508|442509|442510|536197|791234|791235|798654|800919|903591|919434|964850|973030", + "upstreamId": "137297|204041|204042|204043|204044|442508|442509|442510|536197|791234|791235|798654|800919|903591|919434|964850|973030", "text": "Coffin-Siris syndrome 6" }, { - "baseId": "137721|137722|137725|143238|143239|143240|143241|143242|260854|269141|362760|362761|366311|366533|405690|428047|428050|428051|431903|450751|450755|450758|450968|490941|517998|518001|518041|518136|537347|550164|550351|550586|557489|557984|558336|560553|576102|608837|611383|611384|619907|629751|629752|629753|629754|629755|629756|650755|650948|672129|691110|691111|697499|697500|697502|733373|747496|747501|763124|763125|777287|781268|816445|826112|826113|826114|826115|826116|851412|922677|942746|953021|953022|961392|967263|970740|970852", + "upstreamId": "137721|137722|137725|143238|143239|143240|143241|143242|260854|269141|362760|362761|366311|366533|405690|428047|428050|428051|431903|450751|450755|450758|450968|490941|517998|518001|518041|518136|537347|550164|550351|550586|557489|557984|558336|560553|576102|608837|611383|611384|619907|629751|629752|629753|629754|629755|629756|650755|650948|672129|691110|691111|697499|697500|697502|733373|747496|747501|763124|763125|777287|781268|816445|826112|826113|826114|826115|826116|851412|922677|942746|953021|953022|961392|967263|970740|970852", "text": "Tatton-Brown-rahman syndrome" }, { - "baseId": "137834|513900|514100", + "upstreamId": "137834|513900|514100", "text": "Metachromatic leukodystrophy variant" }, { - "baseId": "137841", + "upstreamId": "137841", "text": "Mixed Phenotype Acute Leukemia, T/Myeloid, Not Otherwise Specified" }, { - "baseId": "137841|137849|333821|343775|349081|622466", + "upstreamId": "137841|137849|333821|343775|349081|622466", "text": "ERCC2-Related Disorders" }, { - "baseId": "137939|263045|304087|407292", + "upstreamId": "137939|263045|304087|407292", "text": "Langer-Giedion syndrome" }, { - "baseId": "138100|138105|138106|138109|253530|253535|256038|308234|312615|312633|318533|318542|319067|327107|327109|327113|327134|327136|327140|327141|327148|327149|327153|327168|327169|327171|327178|327179|336998|337004|337010|337016|337018|337021|337022|337024|337027|343231|343246|344838|344841|344844|344849|344850|344853|344857", + "upstreamId": "138100|138105|138106|138109|253530|253535|256038|308234|312615|312633|318533|318542|319067|327107|327109|327113|327134|327136|327140|327141|327148|327149|327153|327168|327169|327171|327178|327179|336998|337004|337010|337016|337018|337021|337022|337024|337027|343231|343246|344838|344841|344844|344849|344850|344853|344857", "text": "Inclusion Body Myopathy, Dominant" }, { - "baseId": "138125|138127|138129|138131|139286|193378|193379|253699|253700|253704|253706|268579|268591|309577|309579|309582|309583|309584|309585|309587|309588|309600|309606|309607|309608|314366|314367|314377|314378|314379|314389|314395|314396|314414|314416|314418|314419|314420|314421|314431|320436|320439|320440|320447|320448|320459|320461|320462|320467|320469|320470|320865|320874|320875|320877|320883|320884|320908|320909|320916|320920|320934|320936|320937|320942|320947|503156|569547|701223|737381|865489|865490|865491|865492|865493|865494|865495|865496|865497|865498|865499|865500|865501|865502|865503|865504|865505|865506|865507|865508|865509|865510|865511|865512|865513|865514|868451|868452|868453", + "upstreamId": "138125|138127|138129|138131|139286|193378|193379|253699|253700|253704|253706|268579|268591|309577|309579|309582|309583|309584|309585|309587|309588|309600|309606|309607|309608|314366|314367|314377|314378|314379|314389|314395|314396|314414|314416|314418|314419|314420|314421|314431|320436|320439|320440|320447|320448|320459|320461|320462|320467|320469|320470|320865|320874|320875|320877|320883|320884|320908|320909|320916|320920|320934|320936|320937|320942|320947|503156|569547|701223|737381|865489|865490|865491|865492|865493|865494|865495|865496|865497|865498|865499|865500|865501|865502|865503|865504|865505|865506|865507|865508|865509|865510|865511|865512|865513|865514|868451|868452|868453", "text": "Isolated coronal synostosis" }, { - "baseId": "138162|235483|247653|327448|402038|422146|467353|488185|530769", + "upstreamId": "138162|235483|247653|327448|402038|422146|467353|488185|530769", "text": "Potocki-Lupski syndrome" }, { - "baseId": "138201|257848|404264|430809|471610|535006|574743|650088|650089|650090|685017|685018|685019|685490|689519|689521|689522|695909|706246|821508|850105|850106|850107|850108|929753|929754|929755|929756|959312|960386", + "upstreamId": "138201|257848|404264|430809|471610|535006|574743|650088|650089|650090|685017|685018|685019|685490|689519|689521|689522|695909|706246|821508|850105|850106|850107|850108|929753|929754|929755|929756|959312|960386", "text": "gene sequencing" }, { - "baseId": "138388|361137", + "upstreamId": "138388|361137", "text": "Lymphedema" }, { - "baseId": "138512|425204|425209|425211|425219|425220|425227|425228", + "upstreamId": "138512|425204|425209|425211|425219|425220|425227|425228", "text": "atypical cerebral palsy" }, { - "baseId": 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20102|820103|835873|835874|835875|835876|835877|835878|835879|835880|835881|835882|835883|835884|835885|835886|835887|835888|835889|835890|835891|835892|835893|835894|835895|835896|835897|835898|835899|835900|835901|835902|835903|835904|835905|835906|835907|835908|835909|835910|835911|835912|835913|835914|835915|835916|835917|835918|835919|835920|835921|835922|835923|835924|835925|835926|835927|835928|835929|835930|835931|835932|851732|925504|925505|925506|925507|925508|925509|925510|925511|925512|925513|925514|925515|925516|925517|925518|925519|925520|934666|934667|934668|934669|934670|934671|934672|934673|934674|934675|934676|934677|934678|934679|934680|934681|940934|946519|946520|946521|946522|946523|946524|946525|946526|946527|946528|946529|946530|946531|946532|955764|955765|955766|955767|955768|955769|955770|955771|961613", "text": "Adams-Oliver syndrome 5" }, { - "baseId": "138657|210368|359762|360883|361033|400546|429714|510064|551447|551448|551449|551450|551451|551452|551453|551454|551455|551456|551457|551458|581210|581844|614653|971467", + "upstreamId": "138657|210368|359762|360883|361033|400546|429714|510064|551447|551448|551449|551450|551451|551452|551453|551454|551455|551456|551457|551458|581210|581844|614653|971467", "text": "Bicuspid aortic valve" }, { - "baseId": "138674|513183|552173", + "upstreamId": "138674|513183|552173", "text": "Congenital heart defects" }, { - "baseId": "138812|188141|188142|214099|363384|363385|512433|791949|904322|964526", + "upstreamId": "138812|188141|188142|214099|363384|363385|512433|791949|904322|964526", "text": "Mental retardation, autosomal dominant 36" }, { - "baseId": "138939|138942|138943|138944|138946|138948|138949|138950|138953|138954|138956|138958|138959|138960|138961|138963|138966|138967|138969|138970|138972|138976|138978|224672|224673|224674|224675|359475|367600|367600|443465|452450|452455|452459|452463|452464|452466|452467|452472|452476|452480|452487|452666|452673|452677|452692|452698|452701|452703|452704|452711|452718|452720|452725|452727|452728|452737|452748|452749|452752|452755|452759|452762|452777|452779|452781|452789|452791|452991|452993|452999|453000|453002|453005|453009|453012|453019|453024|511494|511497|511498|519321|519332|519343|519347|519348|519350|519354|519355|519356|519361|519362|519368|519503|519514|519516|519528|519530|519533|519539|519540|519542|519549|519556|519558|519566|519572|519574|519576|519578|519590|519597|559008|559010|559012|559014|559526|559530|559532|559534|559536|559538|559540|559542|559544|559546|561605|561606|561609|561616|561617|561619|561624|561627|561629|561636|561638|562975|562997|563008|576752|621022|622330|631462|631463|631464|631465|631466|631467|631468|631469|631470|631471|631472|631473|631474|631475|631476|631477|631478|631479|631480|631481|631482|631483|631484|631485|631486|631487|631488|631489|691426|691427|691428|698127|698128|698129|698130|698132|698133|698135|698136|698137|708888|708890|720485|720486|720487|720488|720493|734093|734094|734096|734100|734101|734102|734104|748304|748305|748310|763923|763924|763926|763927|763928|763934|763936|763941|774833|774986|781688|781689|781691|781692|781693|793025|821891|821892|821893|821894|821895|821896|821897|821898|821899|821900|821901|821902|828191|828192|828193|828194|828195|828196|828197|828198|828199|828200|828201|828202|828203|828204|828205|828206|828207|828208|828209|828210|828211|828212|828213|828214|828215|828216|828217|828218|828219|828220|828221|828222|828223|828224|828225|828226|828227|828228|828229|828230|918833|920195|923224|923225|923226|923227|923228|923229|923230|923231|923232|923233|923234|923235|931966|931967|931968|931969|931970|931971|931972|931973|931974|931975|931976|931977|931978|931979|931980|931981|943572|943573|943574|943575|943576|943577|943578|943579|943580|943581|943582|943583|943584|943585|943586|943587|943588|943589|953500|953501|953502|953503|953504|953505|953506|953507|959699|959700|964224|964817|965619", + "upstreamId": "138939|138942|138943|138944|138946|138948|138949|138950|138953|138954|138956|138958|138959|138960|138961|138963|138966|138967|138969|138970|138972|138976|138978|224672|224673|224674|224675|359475|367600|367600|443465|452450|452455|452459|452463|452464|452466|452467|452472|452476|452480|452487|452666|452673|452677|452692|452698|452701|452703|452704|452711|452718|452720|452725|452727|452728|452737|452748|452749|452752|452755|452759|452762|452777|452779|452781|452789|452791|452991|452993|452999|453000|453002|453005|453009|453012|453019|453024|511494|511497|511498|519321|519332|519343|519347|519348|519350|519354|519355|519356|519361|519362|519368|519503|519514|519516|519528|519530|519533|519539|519540|519542|519549|519556|519558|519566|519572|519574|519576|519578|519590|519597|559008|559010|559012|559014|559526|559530|559532|559534|559536|559538|559540|559542|559544|559546|561605|561606|561609|561616|561617|561619|561624|561627|561629|561636|561638|562975|562997|563008|576752|621022|622330|631462|631463|631464|631465|631466|631467|631468|631469|631470|631471|631472|631473|631474|631475|631476|631477|631478|631479|631480|631481|631482|631483|631484|631485|631486|631487|631488|631489|691426|691427|691428|698127|698128|698129|698130|698132|698133|698135|698136|698137|708888|708890|720485|720486|720487|720488|720493|734093|734094|734096|734100|734101|734102|734104|748304|748305|748310|763923|763924|763926|763927|763928|763934|763936|763941|774833|774986|781688|781689|781691|781692|781693|793025|821891|821892|821893|821894|821895|821896|821897|821898|821899|821900|821901|821902|828191|828192|828193|828194|828195|828196|828197|828198|828199|828200|828201|828202|828203|828204|828205|828206|828207|828208|828209|828210|828211|828212|828213|828214|828215|828216|828217|828218|828219|828220|828221|828222|828223|828224|828225|828226|828227|828228|828229|828230|918833|920195|923224|923225|923226|923227|923228|923229|923230|923231|923232|923233|923234|923235|931966|931967|931968|931969|931970|931971|931972|931973|931974|931975|931976|931977|931978|931979|931980|931981|943572|943573|943574|943575|943576|943577|943578|943579|943580|943581|943582|943583|943584|943585|943586|943587|943588|943589|953500|953501|953502|953503|953504|953505|953506|953507|959699|959700|964224|964817|965619", "text": "Luscan-lumish syndrome" }, { - "baseId": "139002|245206", + "upstreamId": "139002|245206", "text": "Curry-Jones syndrome" }, { - "baseId": "139020|236839|236840|236841|236842|236843|236844|236845|236850", + "upstreamId": "139020|236839|236840|236841|236842|236843|236844|236845|236850", "text": "Microform holoprosencephaly" }, { - "baseId": "139022|139024|240730|397335|439503|439504|460505|460522|475248|626194", + "upstreamId": "139022|139024|240730|397335|439503|439504|460505|460522|475248|626194", "text": "Joubert syndrome 32" }, { - "baseId": "139069|139073|139075|139084|216910|216911|216912|216913|216914|216915|682261|699337|721738|777535|799439|961949|981520|981521|981522|981523|981524", + "upstreamId": "139069|139073|139075|139084|216910|216911|216912|216913|216914|216915|682261|699337|721738|777535|799439|961949|981520|981521|981522|981523|981524", "text": "Autoinflammatory syndrome, familial, Behcet-like" }, { - "baseId": "139098|363522|364267|364268|364269|410258|513784|513786|513787|513788|513789|513790|513791|513792|513794|513795|513797|513802", + "upstreamId": "139098|363522|364267|364268|364269|410258|513784|513786|513787|513788|513789|513790|513791|513792|513794|513795|513797|513802", "text": "PARP Inhibitor response" }, { - "baseId": "139302|357085|620001|620002|620722", + "upstreamId": "139302|357085|620001|620002|620722", "text": "MPL-Related Disorders" }, { - "baseId": "139316|139317|139323|139325|139336|139337|139340", + "upstreamId": "139316|139317|139323|139325|139336|139337|139340", "text": "Relapsing remitting multiple sclerosis" }, { - "baseId": "139318|139319|139320|139321|139322|139324|139326|139327|139328|139329|139330|139331|139332|139333|139334|139335|139338|139339|139341", + "upstreamId": "139318|139319|139320|139321|139322|139324|139326|139327|139328|139329|139330|139331|139332|139333|139334|139335|139338|139339|139341", "text": "Chronic progressive multiple sclerosis" }, { - "baseId": "139361|139362|139363|139364|139365|139366|139367", + "upstreamId": "139361|139362|139363|139364|139365|139366|139367", "text": "Structural brain abnormalities" }, { - "baseId": "139361|139362|139363|139364|139365|139366|139367", + "upstreamId": "139361|139362|139363|139364|139365|139366|139367", "text": "Neurological deficit" }, { - "baseId": "139371|181422|536138|536151|536160|536186|536187", + "upstreamId": "139371|181422|536138|536151|536160|536186|536187", "text": "Cerebral calcification" }, { - "baseId": "139371", + "upstreamId": "139371", "text": "Intracranial hemorrhage" }, { - "baseId": "139372|139373|425210|682118", + "upstreamId": "139372|139373|425210|682118", "text": "Myasthenic syndrome, slow-channel congenital" }, { - "baseId": "139375", + "upstreamId": "139375", "text": "Spermatogenic failure 13" }, { - "baseId": "139378|139379|192126|252609|252613|259850|266683|266867|267345|267684|267728|268921|269124|269567|270377|270709|273597|273995|274386|274540|274549|274757|274829|275443|368925|368928|370821|456400|456410|456412|456413|456979|456983|457423|457427|457429|457433|489254|493199|522317|522319|522322|522326|522715|523049|523050|523053|523056|523058|561380|561539|581956|586225|635780|635781|635782|635783|635784|635785|692157|692158|730465|735954|750418|766108|790695|833130|833131|833132|833133|833134|833135|924701|924702|924703|933687|933688|933689|940066|945425|945426|945427|945428|955051|955052|955053|955054|955055", + "upstreamId": "139378|139379|192126|252609|252613|259850|266683|266867|267345|267684|267728|268921|269124|269567|270377|270709|273597|273995|274386|274540|274549|274757|274829|275443|368925|368928|370821|456400|456410|456412|456413|456979|456983|457423|457427|457429|457433|489254|493199|522317|522319|522322|522326|522715|523049|523050|523053|523056|523058|561380|561539|581956|586225|635780|635781|635782|635783|635784|635785|692157|692158|730465|735954|750418|766108|790695|833130|833131|833132|833133|833134|833135|924701|924702|924703|933687|933688|933689|940066|945425|945426|945427|945428|955051|955052|955053|955054|955055", "text": "Limb-girdle muscular dystrophy, type 1F" }, { - "baseId": "139381|800839", + "upstreamId": "139381|800839", "text": "Spermatogenic failure 14" }, { - "baseId": "139382|224860|224861|224862|224863|626147|858731", + "upstreamId": "139382|224860|224861|224862|224863|626147|858731", "text": "Mitochondrial complex III deficiency, nuclear type 8" }, { - "baseId": "139774", + "upstreamId": "139774", "text": "B Lymphoblastic Leukemia/Lymphoma" }, { - "baseId": "139827|185970", + "upstreamId": "139827|185970", "text": "Ewing sarcoma of soft tissue" }, { - "baseId": "139945|139947|139948|139949|212052|212054|349026|349033|352932", + "upstreamId": "139945|139947|139948|139949|212052|212054|349026|349033|352932", "text": "Sideroblastic Anemia and Ataxia" }, { - "baseId": "140021|140022|205751|211299|211299|211306|211307|211307|211309|211313|211313|302009|302013|302014|302016|302021|305185|305194|305195|305198|305203|305204|309890|309893|309893|309896|309896|309901|309916|309916|309917|309918|309924|309929|309931|309948|309964|310017|310025|368952|369244|369512|456416|501886|514551|522605|635793|692166|692166|695352|722363|897558|897559|897560|897561|897562|897563|897564|897565|897566|897567|897568|897569|897570|897571|897572|897573|897574|897575|897576|897577|897578|897579|900320|900321|924716", + "upstreamId": "140021|140022|205751|211299|211299|211306|211307|211307|211309|211313|211313|302009|302013|302014|302016|302021|305185|305194|305195|305198|305203|305204|309890|309893|309893|309896|309896|309901|309916|309916|309917|309918|309924|309929|309931|309948|309964|310017|310025|368952|369244|369512|456416|501886|514551|522605|635793|692166|692166|695352|722363|897558|897559|897560|897561|897562|897563|897564|897565|897566|897567|897568|897569|897570|897571|897572|897573|897574|897575|897576|897577|897578|897579|900320|900321|924716", "text": "Cataract, autosomal recessive congenital 5" }, { - "baseId": "140035", + "upstreamId": "140035", "text": "unspecified heart condition" }, { - "baseId": "140119|195446|211373|265577|308151|308152|308156|318388|318390|318392|318393|318856|318864|318874", + "upstreamId": "140119|195446|211373|265577|308151|308152|308156|318388|318390|318392|318393|318856|318864|318874", "text": "Coenzyme Q10 deficiency, Oculomotor Apraxia Type" }, { - "baseId": "140347|188490", + "upstreamId": "140347|188490", "text": "Short QT Syndrome 5" }, { - "baseId": 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+ "upstreamId": 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35788|835790|835791|835794|835795|835796|850823|850866|850868|851141|851247|851728|852168|852170|852499|858310|883054|883055|883056|883057|883058|883059|883060|918718|918719|918720|918721|918722|919199|919200|919201|919202|919203|920267|920268|964652|965875|981378|981379|981380|981381", "text": "Ehlers-Danlos syndrome classic type 2" }, { - "baseId": "140785|210896|210897|210898|247473|247477|247479|247480|626132", + "upstreamId": "140785|210896|210897|210898|247473|247477|247479|247480|626132", "text": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4" }, { - "baseId": "141047|171281|171282|209762|209778|209807|258390|258402|258408|273965|297049|368157|443671|454415|520509|614279|614280|622345|799393|816312|918917|918918|918919|918920", + "upstreamId": "141047|171281|171282|209762|209778|209807|258390|258402|258408|273965|297049|368157|443671|454415|520509|614279|614280|622345|799393|816312|918917|918918|918919|918920", "text": "Macular degeneration, early-onset" }, { - "baseId": "141317|141318|612467", + "upstreamId": "141317|141318|612467", "text": "Facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs" }, { - "baseId": "141324|141325|141325|141326|141327|141328|141329|150464|150465|187227|187227|250309|275325|363749|363926|363926|363975|413549|414825|427919|438163|438702|442980|448752|448756|448764|448770|448771|448974|448976|449036|449054|449056|449070|449071|516211|516475|516478|516480|516567|516572|516575|516581|516583|516586|516591|516593|516596|516598|516599|516601|516602|516612|516619|516625|516629|516633|516637|516638|538339|538952|538952|557584|557586|557588|557590|558813|558815|558817|559296|559298|559300|559302|578389|578390|578391|612450|614222|614223|614224|614225|614226|614227|614597|624756|626117|626117|628684|628685|628686|628687|628688|628689|628690|628691|628692|628693|628694|628695|628696|628697|628698|628699|628700|628701|628702|628703|650851|650886|678120|690822|690823|690824|690825|690827|690828|690829|690830|690831|690832|690833|690834|690835|690837|690838|690839|690840|690841|695093|695094|695095|697109|697112|697113|697114|707805|707806|730067|732867|762319|762322|762323|777146|778889|790069|800764|800765|800766|800767|800768|800769|800770|800771|800772|800773|800774|800775|800776|800777|800778|800779|800780|800781|800782|824978|824979|824980|824981|824982|824983|824984|824985|824986|824987|824988|824989|824990|824991|824992|824993|824994|824995|824996|824997|824998|824999|825000|825001|825002|825003|825004|825005|825006|825007|825008|825009|850838|851342|918678|922300|922301|922302|922303|922304|930867|930868|930869|930870|930871|930872|930873|930874|930875|939852|940660|942295|942296|942297|942298|942299|942300|942301|942302|952737|952738|952739|952740|959583|959584|961254|961645|964165|970713|975892|975893", + "upstreamId": "141324|141325|141325|141326|141327|141328|141329|150464|150465|187227|187227|250309|275325|363749|363926|363926|363975|413549|414825|427919|438163|438702|442980|448752|448756|448764|448770|448771|448974|448976|449036|449054|449056|449070|449071|516211|516475|516478|516480|516567|516572|516575|516581|516583|516586|516591|516593|516596|516598|516599|516601|516602|516612|516619|516625|516629|516633|516637|516638|538339|538952|538952|557584|557586|557588|557590|558813|558815|558817|559296|559298|559300|559302|578389|578390|578391|612450|614222|614223|614224|614225|614226|614227|614597|624756|626117|626117|628684|628685|628686|628687|628688|628689|628690|628691|628692|628693|628694|628695|628696|628697|628698|628699|628700|628701|628702|628703|650851|650886|678120|690822|690823|690824|690825|690827|690828|690829|690830|690831|690832|690833|690834|690835|690837|690838|690839|690840|690841|695093|695094|695095|697109|697112|697113|697114|707805|707806|730067|732867|762319|762322|762323|777146|778889|790069|800764|800765|800766|800767|800768|800769|800770|800771|800772|800773|800774|800775|800776|800777|800778|800779|800780|800781|800782|824978|824979|824980|824981|824982|824983|824984|824985|824986|824987|824988|824989|824990|824991|824992|824993|824994|824995|824996|824997|824998|824999|825000|825001|825002|825003|825004|825005|825006|825007|825008|825009|850838|851342|918678|922300|922301|922302|922303|922304|930867|930868|930869|930870|930871|930872|930873|930874|930875|939852|940660|942295|942296|942297|942298|942299|942300|942301|942302|952737|952738|952739|952740|959583|959584|961254|961645|964165|970713|975892|975893", "text": "Aicardi-Goutieres syndrome 7" }, { - "baseId": "141325|187227|187227|250307|250309|275325|363749|363926|363926|363975|413549|414825|427919|438163|438702|448752|448756|448764|448770|448771|448974|448976|449036|449054|449056|449070|449071|516211|516475|516478|516480|516567|516572|516575|516581|516583|516586|516591|516593|516596|516598|516599|516601|516602|516612|516619|516625|516629|516633|516637|516638|538339|538952|538952|557584|557586|557588|557590|558813|558815|558817|558817|559296|559298|559300|559302|578389|578391|614222|614223|614224|614225|614226|614227|624756|626117|626117|628684|628685|628686|628687|628688|628689|628690|628691|628692|628693|628694|628695|628695|628696|628697|628698|628699|628700|628701|628702|628703|650851|650886|690822|690823|690824|690825|690827|690828|690829|690830|690831|690832|690833|690834|690835|690837|690838|690839|690840|690840|690841|695093|695094|695095|697109|697112|697113|697114|707805|707806|730067|732867|762319|762322|762323|777146|778889|790069|790069|824978|824979|824980|824981|824982|824983|824984|824985|824986|824987|824988|824989|824990|824991|824992|824993|824994|824995|824996|824997|824998|824999|825000|825001|825002|825003|825004|825005|825006|825007|825008|825009|850838|851342|918677|918678|918678|920160|922300|922301|922302|922303|922304|930867|930868|930869|930870|930871|930872|930873|930874|930875|939852|940660|942295|942296|942297|942298|942299|942300|942301|942302|952737|952738|952739|952740|959583|959584|961254|975892|975893", + "upstreamId": "141325|187227|187227|250307|250309|275325|363749|363926|363926|363975|413549|414825|427919|438163|438702|448752|448756|448764|448770|448771|448974|448976|449036|449054|449056|449070|449071|516211|516475|516478|516480|516567|516572|516575|516581|516583|516586|516591|516593|516596|516598|516599|516601|516602|516612|516619|516625|516629|516633|516637|516638|538339|538952|538952|557584|557586|557588|557590|558813|558815|558817|558817|559296|559298|559300|559302|578389|578391|614222|614223|614224|614225|614226|614227|624756|626117|626117|628684|628685|628686|628687|628688|628689|628690|628691|628692|628693|628694|628695|628695|628696|628697|628698|628699|628700|628701|628702|628703|650851|650886|690822|690823|690824|690825|690827|690828|690829|690830|690831|690832|690833|690834|690835|690837|690838|690839|690840|690840|690841|695093|695094|695095|697109|697112|697113|697114|707805|707806|730067|732867|762319|762322|762323|777146|778889|790069|790069|824978|824979|824980|824981|824982|824983|824984|824985|824986|824987|824988|824989|824990|824991|824992|824993|824994|824995|824996|824997|824998|824999|825000|825001|825002|825003|825004|825005|825006|825007|825008|825009|850838|851342|918677|918678|918678|920160|922300|922301|922302|922303|922304|930867|930868|930869|930870|930871|930872|930873|930874|930875|939852|940660|942295|942296|942297|942298|942299|942300|942301|942302|952737|952738|952739|952740|959583|959584|961254|975892|975893", "text": "Singleton-Merten syndrome 1" }, { - "baseId": "141331|141332|237493|430044|539077|619911|964495", + "upstreamId": "141331|141332|237493|430044|539077|619911|964495", "text": "Gordon's syndrome" }, { - "baseId": "141333|430044|539077|626266|626319", + "upstreamId": "141333|430044|539077|626266|626319", "text": "Marden-Walker syndrome" }, { - "baseId": "141637|141638|141640|211639|316885|316889|316904|316907|316909|316910|316912|316913|316916|324499|324508|324510|324522|330637|330661|330689|330692|330694|330705|330707|332004|332011|332012|332022|332036|332039|332072|332081|332087|332103|332105|332107|332108", + "upstreamId": "141637|141638|141640|211639|316885|316889|316904|316907|316909|316910|316912|316913|316916|324499|324508|324510|324522|330637|330661|330689|330692|330694|330705|330707|332004|332011|332012|332022|332036|332039|332072|332081|332087|332103|332105|332107|332108", "text": "Hereditary Sideroblastic Anemia with Myopathy and Lactic Acidosis" }, { - "baseId": "142240|187894|253284|359757|424259|439630|458740|502861|523825|562690|562691|622044|622045|622046|637644|637645|637646|687353|692569|820046|835434|835435|934528|940126|946339|946340", + "upstreamId": "142240|187894|253284|359757|424259|439630|458740|502861|523825|562690|562691|622044|622045|622046|637644|637645|637646|687353|692569|820046|835434|835435|934528|940126|946339|946340", "text": "Oligosynaptic infertility" }, { - "baseId": "142556|142557|142560|142561|142562|211588|503924|738547", + "upstreamId": "142556|142557|142560|142561|142562|211588|503924|738547", "text": "Sideroblastic anemia" }, { - "baseId": "142930|207000|207001|286250|286253|286271|286286|286288|287026|289328|289337|289342|289349|289674|289678|289679|289683|289702|858733", + "upstreamId": "142930|207000|207001|286250|286253|286271|286286|286288|287026|289328|289337|289342|289349|289674|289678|289679|289683|289702|858733", "text": "Gingival fibromatosis" }, { - "baseId": "143128|143129|143130|143138|143139|143140|143141|143142|215267|362137|610373|626433|626434|626435|626436|626437|626438|626439|672048|697765|790316|917745|963532", + "upstreamId": "143128|143129|143130|143138|143139|143140|143141|143142|215267|362137|610373|626433|626434|626435|626436|626437|626438|626439|672048|697765|790316|917745|963532", "text": "Intellectual disability-cataracts-calcified pinnae-myopathy syndrome" }, { - "baseId": "143136|143137|548213|548583|548989|806440", + "upstreamId": "143136|143137|548213|548583|548989|806440", "text": "Pontocerebellar hypoplasia, type 2e" }, { - "baseId": "143150", + "upstreamId": "143150", "text": "isolated follicle-stimulating hormone deficiency" }, { - "baseId": "143157|214100|538398|672025|672026|790788|790789|805087|961781", + "upstreamId": "143157|214100|538398|672025|672026|790788|790789|805087|961781", "text": "Diarrhea 7" }, { - "baseId": "143158|143159|143160|143161|143162|513102|513103|841787", + "upstreamId": "143158|143159|143160|143161|143162|513102|513103|841787", "text": "Cone-rod dystrophy 19" }, { - "baseId": 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+ "upstreamId": "143164|143165|143166|143167|143168|143169|143170|143171|205690|205692|368885|406962|428667|428669|428671|428672|444050|456118|456127|456128|456131|456132|456134|456134|456136|456137|456144|456147|456149|456151|456153|456161|456168|456171|456176|456187|456188|456194|456205|456211|456387|456389|456393|456397|456403|456405|456409|456414|456418|456420|456422|456424|456433|456442|456446|456449|456457|456467|456474|456475|456685|456687|456689|456691|456696|456700|456701|456703|456705|456708|456710|456711|456712|456715|456719|456723|456725|456733|456735|456740|456742|456750|456752|456755|456756|456815|457035|457037|457039|457041|457043|457047|457048|457050|457067|457068|457074|457079|457086|457088|457091|457099|457101|457104|457108|457110|457112|457118|457119|457120|457122|457127|457128|457135|457143|457146|457149|457152|457155|457157|474473|474477|474483|474484|474485|474487|474488|474492|474496|474502|474505|474507|474508|474596|474603|474604|474608|474613|474614|501793|501874|502187|522092|522095|522105|522106|522116|522118|522122|522124|522126|522131|522132|522148|522149|522154|522362|522364|522368|522371|522372|522376|522378|522387|522389|522390|522391|522458|522460|522463|522466|522468|522471|522472|522476|522478|522490|522493|522497|522499|522814|522818|522823|522827|522832|522835|522847|522848|522851|522853|522856|522858|536322|561029|561249|561251|561253|561255|561260|561262|561264|561266|561268|561272|561277|561282|561328|561329|561333|561342|561345|561352|561353|561361|561370|561373|563841|563986|563988|563989|563991|563993|563995|563998|564000|564003|564011|564012|566345|566348|566351|566358|566360|566371|566373|566374|566379|566386|566387|635574|635575|635576|635577|635578|635579|635580|635581|635582|635583|635584|635585|635586|635587|635588|635589|635590|635591|635592|635593|635594|635595|635596|635597|635598|635599|635600|635601|635602|635603|635604|635605|635606|635607|635608|635609|635610|635611|635612|635613|635614|635615|635616|635617|635618|635619|635620|635621|635622|635623|635624|635625|635626|651638|651651|651653|651655|651657|651658|651704|692124|692125|692126|692127|692128|692129|695343|695344|699793|699794|699795|699796|699797|699798|699799|722282|722284|735921|759542|766040|766045|766046|782763|782765|808880|808885|808888|808889|808891|808906|808908|808909|808913|808914|808915|808926|808939|815370|815372|819810|819811|819812|819813|819814|819815|819816|819817|819818|819819|819820|832913|832914|832915|832916|832917|832918|832919|832920|832921|832922|832923|832924|832925|832926|832927|832928|832929|832930|832931|832932|832933|832934|832935|832936|832937|832938|832939|832940|832941|832942|832943|832944|832945|832946|832947|832948|832949|832950|832951|832952|832953|832954|851618|851620|851622|851624|852052|852054|852323|852324|852329|858446|924625|924626|924627|924628|924629|924630|924631|924632|924633|924634|924635|924636|924637|924638|924639|924640|924641|924642|924643|924644|924645|924646|924647|924648|924649|924650|924651|924652|924653|933614|933615|933616|933617|933618|933619|933620|933621|933622|933623|933624|933625|933626|933627|933628|933629|933630|933631|933632|940058|940059|940060|940061|940868|940869|945358|945359|945360|945361|945362|945363|945364|945365|945366|945367|945368|945369|945370|945371|945372|945373|955003|955004|955005|955006|955007|955008|955009|955010|955011|955012|959829|959830|960622|960623|983503", "text": "Melanoma, cutaneous malignant, susceptibility to, 10" }, { - "baseId": "143173|143174|361177|589817|611385|654122|790284|798510|858549|963127", + "upstreamId": "143173|143174|361177|589817|611385|654122|790284|798510|858549|963127", "text": "Mental retardation, autosomal dominant 27" }, { - "baseId": "143175|143176|143177", + "upstreamId": "143175|143176|143177", "text": "Nephrotic syndrome, type 10" }, { - "baseId": "143180|143181|143182|143183|215212|363846|364008|427855|438773|438974|439236|440519|440520|448109|448138|448141|448152|448153|448155|448161|448170|448173|448175|448176|448181|448183|448192|448198|448202|448221|448223|448234|448248|448251|448254|448258|448259|448262|448264|448269|448271|448273|448275|448276|448279|448281|448290|448291|448293|448294|448298|448300|448301|448302|448305|448310|448311|448313|448317|448322|448385|448388|448390|448391|448394|448397|515999|516003|516012|516014|516020|516023|516025|516026|516033|516035|516038|516039|516044|516046|516050|516056|516058|516061|516063|516065|516066|516158|516165|516171|516175|516182|516184|516188|516193|557111|557113|557115|557117|557119|557120|557124|557158|557159|557330|557332|557334|557336|557338|557340|557342|557344|557346|557348|557350|557352|557387|557389|557391|557393|557395|557397|557399|558004|558010|558013|558015|558016|558018|558020|558022|558561|558563|558565|558567|558569|558571|576551|628171|628172|628173|628174|628175|628176|628177|628178|628179|628180|628181|628182|628183|628184|628185|628186|628187|628188|628189|628190|628191|628192|628193|628194|628195|628196|628197|628198|628199|628200|628201|628202|628203|628204|650594|650684|650686|650691|650739|650743|650744|695059|696822|696824|696825|696826|707486|707488|707489|707492|730018|732540|732541|732543|732546|732547|746603|746605|746607|758935|762028|762030|762032|762035|762036|762037|762039|762047|774532|774541|774559|777095|777142|780748|780750|780752|789990|789991|792719|794708|824291|824292|824293|824294|824295|824296|824297|824298|824299|824300|824301|824302|824303|824304|824305|824306|824307|824308|824309|824310|824311|824312|824313|824314|824315|824316|824317|824318|824319|824320|824321|824322|824323|824324|824325|824326|824327|824328|824329|824330|824331|824332|824333|824334|824335|824336|824337|824338|824339|824340|824341|824342|824343|824344|824345|850779|850781|850810|851001|851317|851319|922127|922128|922129|922130|922131|922132|922133|922134|922135|922136|922137|922138|922139|922140|922141|922142|922143|922144|922145|930620|930621|930622|930623|930624|930625|930626|930627|930628|930629|930630|930631|930632|930633|930634|930635|930636|930637|930638|930639|939823|940646|942057|942058|942059|942060|942061|942062|942063|942064|942065|942066|942067|942068|942069|942070|942071|942072|942073|942074|942075|942076|942077|942078|942079|942080|952488|952489|952490|952491|952492|952493|952494|952495|952496|959567|970699", + "upstreamId": "143180|143181|143182|143183|215212|363846|364008|427855|438773|438974|439236|440519|440520|448109|448138|448141|448152|448153|448155|448161|448170|448173|448175|448176|448181|448183|448192|448198|448202|448221|448223|448234|448248|448251|448254|448258|448259|448262|448264|448269|448271|448273|448275|448276|448279|448281|448290|448291|448293|448294|448298|448300|448301|448302|448305|448310|448311|448313|448317|448322|448385|448388|448390|448391|448394|448397|515999|516003|516012|516014|516020|516023|516025|516026|516033|516035|516038|516039|516044|516046|516050|516056|516058|516061|516063|516065|516066|516158|516165|516171|516175|516182|516184|516188|516193|557111|557113|557115|557117|557119|557120|557124|557158|557159|557330|557332|557334|557336|557338|557340|557342|557344|557346|557348|557350|557352|557387|557389|557391|557393|557395|557397|557399|558004|558010|558013|558015|558016|558018|558020|558022|558561|558563|558565|558567|558569|558571|576551|628171|628172|628173|628174|628175|628176|628177|628178|628179|628180|628181|628182|628183|628184|628185|628186|628187|628188|628189|628190|628191|628192|628193|628194|628195|628196|628197|628198|628199|628200|628201|628202|628203|628204|650594|650684|650686|650691|650739|650743|650744|695059|696822|696824|696825|696826|707486|707488|707489|707492|730018|732540|732541|732543|732546|732547|746603|746605|746607|758935|762028|762030|762032|762035|762036|762037|762039|762047|774532|774541|774559|777095|777142|780748|780750|780752|789990|789991|792719|794708|824291|824292|824293|824294|824295|824296|824297|824298|824299|824300|824301|824302|824303|824304|824305|824306|824307|824308|824309|824310|824311|824312|824313|824314|824315|824316|824317|824318|824319|824320|824321|824322|824323|824324|824325|824326|824327|824328|824329|824330|824331|824332|824333|824334|824335|824336|824337|824338|824339|824340|824341|824342|824343|824344|824345|850779|850781|850810|851001|851317|851319|922127|922128|922129|922130|922131|922132|922133|922134|922135|922136|922137|922138|922139|922140|922141|922142|922143|922144|922145|930620|930621|930622|930623|930624|930625|930626|930627|930628|930629|930630|930631|930632|930633|930634|930635|930636|930637|930638|930639|939823|940646|942057|942058|942059|942060|942061|942062|942063|942064|942065|942066|942067|942068|942069|942070|942071|942072|942073|942074|942075|942076|942077|942078|942079|942080|952488|952489|952490|952491|952492|952493|952494|952495|952496|959567|970699", "text": "Epileptic encephalopathy, early infantile, 23" }, { - "baseId": "143184|143185|143186|143187|143188|143189|143190|372595|375471|462537|462813|462818|463290|463296|527419|527707|527956|527957|568206|572146|641504|641505|695588|702548|702549|784496|840454|840455|840456|840457|840458|840459|840460|840461|840462|840463|840464|840465|840466|840467|840468|840469|840470|840471|840472|840473|851961|926785|926786|926787|926788|936316|936317|936318|948237|948238|948239|948240|948241|948242|948243|957004|957005|957006|957007|957008|957009|960795", + "upstreamId": "143184|143185|143186|143187|143188|143189|143190|372595|375471|462537|462813|462818|463290|463296|527419|527707|527956|527957|568206|572146|641504|641505|695588|702548|702549|784496|840454|840455|840456|840457|840458|840459|840460|840461|840462|840463|840464|840465|840466|840467|840468|840469|840470|840471|840472|840473|851961|926785|926786|926787|926788|936316|936317|936318|948237|948238|948239|948240|948241|948242|948243|957004|957005|957006|957007|957008|957009|960795", "text": "Nephronophthisis 18" }, { - "baseId": "143201|143202|143203|143204|143205|190605|362328|362329|488155|560357|560468|578433|614288|830876|970809", + "upstreamId": "143201|143202|143203|143204|143205|190605|362328|362329|488155|560357|560468|578433|614288|830876|970809", "text": "Epileptic encephalopathy, early infantile, 24" }, { - "baseId": "143212", + "upstreamId": "143212", "text": "Deafness, autosomal recessive 44" }, { - "baseId": "143224|143225|143226|143227|143228|143235|395336|788781|800940", + "upstreamId": "143224|143225|143226|143227|143228|143235|395336|788781|800940", "text": "Ciliary dyskinesia, primary, 29" }, { - "baseId": "143229|971089", + "upstreamId": "143229|971089", "text": "Gingival fibromatosis-hypertrichosis syndrome" }, { - "baseId": "143243|143244|143245|143246|418200|917884|918884|964113|976010", + "upstreamId": "143243|143244|143245|143246|418200|917884|918884|964113|976010", "text": "Microphthalmia/coloboma and skeletal dysplasia syndrome" }, { - "baseId": "143250|143251|143252|143253|174555|174828|214139|217221|217222|217223|264337|319672|361198|384405|384407|432381|481859|620335|682120|794155|794156|794157|794158|794159|794160|794161|794162|794163|794164|794165|961858|961859", + "upstreamId": "143250|143251|143252|143253|174555|174828|214139|217221|217222|217223|264337|319672|361198|384405|384407|432381|481859|620335|682120|794155|794156|794157|794158|794159|794160|794161|794162|794163|794164|794165|961858|961859", "text": "Progressive familial intrahepatic cholestasis 4" }, { - "baseId": "143254|143255|143256|143257|143258|188112|188113|227137|263863|264958|265101|265107|351150|360425|361112|378331|424673|430367|430370|431923|446267|512461|512464|537005|580560|580649|611432|611433|611434|682588|788940|791989|791990|805139|816495|919917|919918|919919|961352|963914|964533|964534|971149|972996|972997|972998|972999|973000|973001|973002", + "upstreamId": "143254|143255|143256|143257|143258|188112|188113|227137|263863|264958|265101|265107|351150|360425|361112|378331|424673|430367|430370|431923|446267|512461|512464|537005|580560|580649|611432|611433|611434|682588|788940|791989|791990|805139|816495|919917|919918|919919|961352|963914|964533|964534|971149|972996|972997|972998|972999|973000|973001|973002", "text": "Helsmoortel-Van der Aa Syndrome" }, { - "baseId": "143259", + "upstreamId": "143259", "text": "Hypotrichosis 12" }, { - "baseId": "143261|187138|187139|190633|371851|372605|372869|374641|421908|434505|461651|461865|503563|526694|526695|526698|526712|526941|527267|565087|565089|640658|640659|640660|640661|640662|640663|640664|713388|713389|724948|738502|753162|779751|784291|839359|839360|839362|839363|839364|839365|839366|839367|839368|839369|850699|851931|926479|926480|926481|935931|935932|935933|947800|947801|947802|947803|947804|947805|947806|956762", + "upstreamId": "143261|187138|187139|190633|371851|372605|372869|374641|421908|434505|461651|461865|503563|526694|526695|526698|526712|526941|527267|565087|565089|640658|640659|640660|640661|640662|640663|640664|713388|713389|724948|738502|753162|779751|784291|839359|839360|839362|839363|839364|839365|839366|839367|839368|839369|850699|851931|926479|926480|926481|935931|935932|935933|947800|947801|947802|947803|947804|947805|947806|956762", "text": "Myopathy, tubular aggregate, 2" }, { - "baseId": "143266|404804|404805|615449|801124|801125", + "upstreamId": "143266|404804|404805|615449|801124|801125", "text": "Platelet-type bleeding disorder 18" }, { - "baseId": "143271|210598|276217|276243|276475|276476|276486|276496|276497|276514|276860|276909|276951|276972|302044|633625", + "upstreamId": "143271|210598|276217|276243|276475|276476|276486|276496|276497|276514|276860|276909|276951|276972|302044|633625", "text": "Hereditary motor and sensory neuropathy" }, { - "baseId": "150121|150122|150123|677129", + "upstreamId": "150121|150122|150123|677129", "text": "Amelogenesis imperfecta, hypomaturation type IIA5" }, { - "baseId": "150138|448044|515859|515862|515887|515888|515916|515917|515920|515986|557053|557055|557317|627833|627834|627835|627836|627837|627838|627839|627840|627841|627842|707408|718963|718964|732450|732451|759022|761922|761925|777078|823960|823961|823962|823963|823964|922016|922017|930485|930486|939812|940635|941939", + "upstreamId": "150138|448044|515859|515862|515887|515888|515916|515917|515920|515986|557053|557055|557317|627833|627834|627835|627836|627837|627838|627839|627840|627841|627842|707408|718963|718964|732450|732451|759022|761922|761925|777078|823960|823961|823962|823963|823964|922016|922017|930485|930486|939812|940635|941939", "text": "Immunodeficiency 24" }, { - "baseId": "150140", + "upstreamId": "150140", "text": "Microphthalmia, syndromic 13" }, { - "baseId": "150142|181445|445590|445592|512217|983549", + "upstreamId": "150142|181445|445590|445592|512217|983549", "text": "Developmental and epileptic encephalopathy, 77" }, { - "baseId": "150144|792729", + "upstreamId": "150144|792729", "text": "Hypotrichosis 13" }, { - "baseId": "150146|980397", + "upstreamId": "150146|980397", "text": "Bardet-Biedl syndrome 19" }, { - "baseId": "150287|583166", + "upstreamId": "150287|583166", "text": "Retinitis pigmentosa 84" }, { - "baseId": "150292|150293", + "upstreamId": "150292|150293", "text": "Atrial fibrillation, familial, 17" }, { - "baseId": "150294", + "upstreamId": "150294", "text": "Fibrous Sheath Dysplasia" }, { - "baseId": "150295", + "upstreamId": "150295", "text": "axonemas with defects on microtubules" }, { - "baseId": "150295", + "upstreamId": "150295", "text": "sperm axonema without dynein arms and nexin bridges" }, { - "baseId": "150299|150300|230045|230052|230107|230111|230120|230135|230156|230180|230181|804844", + "upstreamId": "150299|150300|230045|230052|230107|230111|230120|230135|230156|230180|230181|804844", "text": "M\u00e9ni\u00e8re's disease" }, { - "baseId": "150320|150321|150322", + "upstreamId": "150320|150321|150322", "text": "Spondylometaphyseal dysplasia, Sedaghatian type" }, { - "baseId": "150326|150327|150328|150329|150330|150331|150332|150333|424441|426335|446236|469358|469360|470370|470374|470376|470888|533508|533510|533555|533560|533600|534091|571234|571235|572889|572893|572897|573501|573502|575100|575101|575102|614474|648670|648671|648672|648673|648674|648675|648676|648677|648678|648679|648680|648681|648682|648683|648684|648685|648686|648687|648688|648689|653211|653533|653553|716983|728658|742403|757522|757528|773104|779977|792583|821325|848388|848389|848390|848391|848392|848393|848394|848395|848396|848397|848398|848399|848400|920416|929184|929185|929186|929187|929188|929189|929190|938976|938977|938978|938979|951091|951092|951093|951094|951095|958835|958836|958837|958838|958839|958840|961965|980968", + "upstreamId": "150326|150327|150328|150329|150330|150331|150332|150333|424441|426335|446236|469358|469360|470370|470374|470376|470888|533508|533510|533555|533560|533600|534091|571234|571235|572889|572893|572897|573501|573502|575100|575101|575102|614474|648670|648671|648672|648673|648674|648675|648676|648677|648678|648679|648680|648681|648682|648683|648684|648685|648686|648687|648688|648689|653211|653533|653553|716983|728658|742403|757522|757528|773104|779977|792583|821325|848388|848389|848390|848391|848392|848393|848394|848395|848396|848397|848398|848399|848400|920416|929184|929185|929186|929187|929188|929189|929190|938976|938977|938978|938979|951091|951092|951093|951094|951095|958835|958836|958837|958838|958839|958840|961965|980968", "text": "Polyglucosan body myopathy 1 with or without immunodeficiency" }, { - "baseId": "150443|621038|792493", + "upstreamId": "150443|621038|792493", "text": "Mental retardation, X-linked 100" }, { - "baseId": "150449|150450|981454|981455", + "upstreamId": "150449|150450|981454|981455", "text": "Lymphedema, hereditary, ID" }, { - "baseId": "150451|150452|802193", + "upstreamId": "150451|150452|802193", "text": "Diamond-Blackfan anemia 13" }, { - "baseId": "150454|150455|150456|150457|213981|250311|250312|250316|250317|250320|250322|448978|449040|449075|449076|449223|449225|449239|449240|449271|516640|557592|557654|557656|558827|628976|682302|682303|682304|682305|682306|690843|690844|690845|690846|690848|690874|690885|690886|690887|690888|690893|695096|695101|697116|697118|697119|697120|697122|697123|697124|697135|697138|697142|697143|697145|697154|707831|732871|732905|746891|780914|825237|930876|930969|965212|973098|976005", + "upstreamId": "150454|150455|150456|150457|213981|250311|250312|250316|250317|250320|250322|448978|449040|449075|449076|449223|449225|449239|449240|449271|516640|557592|557654|557656|558827|628976|682302|682303|682304|682305|682306|690843|690844|690845|690846|690848|690874|690885|690886|690887|690888|690893|695096|695101|697116|697118|697119|697120|697122|697123|697124|697135|697138|697142|697143|697145|697154|707831|732871|732905|746891|780914|825237|930876|930969|965212|973098|976005", "text": "Anterior segment dysgenesis 7" }, { - "baseId": "150458|178407|178407|200688|200688|200689|200689|469914|469920|469926|469931|469933|470842|470915|471374|471379|471382|471799|508104|534074|534081|534085|534165|534606|571718|573279|573283|573287|573956|573958|573964|649209|649210|649211|649212|649213|649214|649215|649216|653271|653686|694692|705821|776953|786560|821403|849084|849085|849086|849087|849088|929410|939211|939212|939213|960960", + "upstreamId": "150458|178407|178407|200688|200688|200689|200689|469914|469920|469926|469931|469933|470842|470915|471374|471379|471382|471799|508104|534074|534081|534085|534165|534606|571718|573279|573283|573287|573956|573958|573964|649209|649210|649211|649212|649213|649214|649215|649216|653271|653686|694692|705821|776953|786560|821403|849084|849085|849086|849087|849088|929410|939211|939212|939213|960960", "text": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 2" }, { - "baseId": "150458|178407|200688|200689|469914|469920|469926|469931|469933|470842|470915|471374|471379|471382|471799|508104|534074|534081|534085|534165|534606|571718|573279|573283|573287|573956|573958|573964|649209|649210|649211|649212|649213|649214|649215|649216|653271|653686|694692|705821|776953|786560|821403|849084|849085|849086|849087|849088|929410|939211|939212|939213|960960", + "upstreamId": "150458|178407|200688|200689|469914|469920|469926|469931|469933|470842|470915|471374|471379|471382|471799|508104|534074|534081|534085|534165|534606|571718|573279|573283|573287|573956|573958|573964|649209|649210|649211|649212|649213|649214|649215|649216|653271|653686|694692|705821|776953|786560|821403|849084|849085|849086|849087|849088|929410|939211|939212|939213|960960", "text": "Myopathy, isolated mitochondrial, autosomal dominant" }, { - "baseId": "150466|150467|150468|214822|214823|214824|214825|214826|264863|360315|362160|375599|375603|375605|375644|375661|376488|376494|376508|376514|376523|376570|376571|376584|376589|376591|376600|376603|378691|378710|378716|378721|378726|410222|422189|445867|445871|445872|467346|467351|467355|468279|468283|468286|468287|468292|468294|468722|468728|468729|468967|468969|468976|495441|507103|507105|531695|531698|531701|531710|531765|531825|531828|532064|532066|532069|532071|532075|536955|569672|569676|570745|571543|571547|571562|572165|572168|580266|580279|580353|646580|646581|646582|646583|646584|646585|646586|646587|646588|646589|646590|646591|646592|646593|646594|646595|646596|646597|646598|646599|646600|646601|646602|653361|715638|727366|727367|731176|756078|771773|771774|776516|780134|788262|791817|791818|791819|791820|821149|821150|846087|846088|846089|846090|846091|846092|846093|846094|846095|846096|846097|846098|846099|846100|846101|846102|846103|851751|928499|928500|928501|928502|928503|928504|928505|928506|928507|938185|938186|938187|938188|938189|938190|938191|940431|950226|950227|950228|950229|950230|950231|950232|950233|950234|950235|958279|958280|958281|964692", + "upstreamId": "150466|150467|150468|214822|214823|214824|214825|214826|264863|360315|362160|375599|375603|375605|375644|375661|376488|376494|376508|376514|376523|376570|376571|376584|376589|376591|376600|376603|378691|378710|378716|378721|378726|410222|422189|445867|445871|445872|467346|467351|467355|468279|468283|468286|468287|468292|468294|468722|468728|468729|468967|468969|468976|495441|507103|507105|531695|531698|531701|531710|531765|531825|531828|532064|532066|532069|532071|532075|536955|569672|569676|570745|571543|571547|571562|572165|572168|580266|580279|580353|646580|646581|646582|646583|646584|646585|646586|646587|646588|646589|646590|646591|646592|646593|646594|646595|646596|646597|646598|646599|646600|646601|646602|653361|715638|727366|727367|731176|756078|771773|771774|776516|780134|788262|791817|791818|791819|791820|821149|821150|846087|846088|846089|846090|846091|846092|846093|846094|846095|846096|846097|846098|846099|846100|846101|846102|846103|851751|928499|928500|928501|928502|928503|928504|928505|928506|928507|938185|938186|938187|938188|938189|938190|938191|940431|950226|950227|950228|950229|950230|950231|950232|950233|950234|950235|958279|958280|958281|964692", "text": "Epileptic encephalopathy, early infantile, 25" }, { - "baseId": "150467|168792|486728|486729|486762|486763", + "upstreamId": "150467|168792|486728|486729|486762|486763", "text": "Undetermined early-onset epileptic encephalopathy" }, { - "baseId": "150775|233048|550677|550679", + "upstreamId": "150775|233048|550677|550679", "text": "Rectal Adenocarcinoma" }, { - "baseId": "150897", + "upstreamId": "150897", "text": "Bilateral breast carcinoma" }, { - "baseId": "151124|151125|151127", + "upstreamId": "151124|151125|151127", "text": "Trichomegaly" }, { - "baseId": "151138|151140|151141|359597|368886|369077|370328|481504|481505|481506|513420|513421|626161|626162|790609|795814|903542|939762|939763|939764|939765|939766", + "upstreamId": "151138|151140|151141|359597|368886|369077|370328|481504|481505|481506|513420|513421|626161|626162|790609|795814|903542|939762|939763|939764|939765|939766", "text": "Combined oxidative phosphorylation deficiency 20" }, { - "baseId": "151642|496224|496686|677186", + "upstreamId": "151642|496224|496686|677186", "text": "Alveolar rhabdomyosarcoma (disease)" }, { - "baseId": "151773|182669|212544|227140|227141|309444|395996|396013|455993|522734|522773|566301", + "upstreamId": "151773|182669|212544|227140|227141|309444|395996|396013|455993|522734|522773|566301", "text": "Osteofibrous dysplasia" }, { - "baseId": "151773|181585|182669|212544|309444|395996|396013|455993|522734|522773|566301", + "upstreamId": "151773|181585|182669|212544|309444|395996|396013|455993|522734|522773|566301", "text": "Deafness, autosomal recessive 97" }, { - "baseId": "152171", + "upstreamId": "152171", "text": "Myeloid Leukemia Associated with Down Syndrome" }, { - "baseId": "152753|791991", + "upstreamId": "152753|791991", "text": "Ataxia-telangiectasia-like disorder 2" }, { - "baseId": "152755|152756|152757|152758|970835", + "upstreamId": "152755|152756|152757|152758|970835", "text": "Leukoencephalopathy, progressive, with ovarian failure" }, { - "baseId": "152759|152760|612252", + "upstreamId": "152759|152760|612252", "text": "Combined oxidative phosphorylation deficiency 21" }, { - "baseId": "152772|152773|152774|190426|190426|318595|319133|319145|438816|459243|459543|460088|511840|524861|524864|524865|524989|563262|563263|638314|638315|700994|700995|700996|700997|700998|700999|701000|737129|751704|777818|777820|836153|836154|836155|836156|836157|925595|925596|925597|925598|925599|955850|964332|964334", + "upstreamId": "152772|152773|152774|190426|190426|318595|319133|319145|438816|459243|459543|460088|511840|524861|524864|524865|524989|563262|563263|638314|638315|700994|700995|700996|700997|700998|700999|701000|737129|751704|777818|777820|836153|836154|836155|836156|836157|925595|925596|925597|925598|925599|955850|964332|964334", "text": "Epiphyseal chondrodysplasia, miura type" }, { - "baseId": "152775|309029|422800|428632", + "upstreamId": "152775|309029|422800|428632", "text": "Spinocerebellar ataxia type 34" }, { - "baseId": "152776|152777", + "upstreamId": "152776|152777", "text": "Retinitis pigmentosa 70" }, { - "baseId": "152952", + "upstreamId": "152952", "text": "Syndrome of entercolitis and autoinflmmation caused by mutation of NLRC4 (SCAN4)" }, { - "baseId": "152977|538403|550115|550116|550234|679962|798606|798607|816402|858614", + "upstreamId": "152977|538403|550115|550116|550234|679962|798606|798607|816402|858614", "text": "Steel syndrome" }, { - "baseId": "153138", + "upstreamId": "153138", "text": "Loss of ability to walk" }, { - "baseId": "153190|181434|181465|187513|243987|248477|263251|263269|263347|362144|362151|404617|514175|514196|550130|581716|677986|677997|677998|678003|678021|679836|921237|921238|965572", + "upstreamId": "153190|181434|181465|187513|243987|248477|263251|263269|263347|362144|362151|404617|514175|514196|550130|581716|677986|677997|677998|678003|678021|679836|921237|921238|965572", "text": "Attention deficit hyperactivity disorder" }, { - "baseId": "153385|203726|263305|263309|360878|415601|513945|514007|514130|550127", + "upstreamId": "153385|203726|263305|263309|360878|415601|513945|514007|514130|550127", "text": "Absent speech" }, { - "baseId": "153385", + "upstreamId": "153385", "text": "Irregular respiration" }, { - "baseId": "153574|965613|965614", + "upstreamId": "153574|965613|965614", "text": "Deafness, autosomal recessive 99" }, { - "baseId": "153582|225833|539108|788947|806421|976685", + "upstreamId": "153582|225833|539108|788947|806421|976685", "text": "Mental retardation, X-linked 101" }, { - "baseId": "153586|153587|153588|389615|454652|454654|454711|454712|454714|454716|455169|521042|521045|521173|521182|521224|521226|560264|560266|560268|564807|564814|612695|633485|633486|633487|633488|633489|633490|633491|633492|633493|633494|633495|633496|633497|633498|721243|721244|721245|721246|734875|749257|749259|749260|764915|764916|782186|819559|830363|830364|830365|830366|830367|830368|830369|830370|830371|830372|851917|923890|923891|923892|923893|932731|932732|932733|932734|944418|944419|944420|944421|954053|954054|960555", + "upstreamId": "153586|153587|153588|389615|454652|454654|454711|454712|454714|454716|455169|521042|521045|521173|521182|521224|521226|560264|560266|560268|564807|564814|612695|633485|633486|633487|633488|633489|633490|633491|633492|633493|633494|633495|633496|633497|633498|721243|721244|721245|721246|734875|749257|749259|749260|764915|764916|782186|819559|830363|830364|830365|830366|830367|830368|830369|830370|830371|830372|851917|923890|923891|923892|923893|932731|932732|932733|932734|944418|944419|944420|944421|954053|954054|960555", "text": "Sting-associated vasculopathy, infantile-onset" }, { - "baseId": "153636", + "upstreamId": "153636", "text": "Azathioprine response" }, { - "baseId": "153638|153639|172306", + "upstreamId": "153638|153639|172306", "text": "Ruijs-Aalfs syndrome" }, { - "baseId": "153653", + "upstreamId": "153653", "text": "Seckel syndrome 8" }, { - "baseId": "153655", + "upstreamId": "153655", "text": "Pontocerebellar hypoplasia, type 10" }, { - "baseId": "153684", + "upstreamId": "153684", "text": "Ocular coloboma, autosomal recessive" }, { - "baseId": "153711|153712|153713|153714|153715|153716|263838|654137", + "upstreamId": "153711|153712|153713|153714|153715|153716|263838|654137", "text": "Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3" }, { - "baseId": "153719|262391|360932|408455|408456|577194|904168|904169|904177|904178|904181|919380|963162", + "upstreamId": "153719|262391|360932|408455|408456|577194|904168|904169|904177|904178|904181|919380|963162", "text": "Dyskinesia, seizures, and intellectual developmental disorder" }, { - "baseId": "153721|153722", + "upstreamId": "153721|153722", "text": "Myopia 24, autosomal dominant" }, { - "baseId": "153744|153745|153746|153747|153748|153749|153750|153751|153752|153753|906166|964299", + "upstreamId": "153744|153745|153746|153747|153748|153749|153750|153751|153752|153753|906166|964299", "text": "Hyperlipoproteinemia, type ID" }, { - "baseId": "153754|153755|153756|800958", + "upstreamId": "153754|153755|153756|800958", "text": "Mental retardation, autosomal recessive 44" }, { - "baseId": "153775|153776|201016", + "upstreamId": "153775|153776|201016", "text": "Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4" }, { - "baseId": "153777|153778|153779|539040|590788|613493|613494|788856|788857|791170|816354|816355|919391", + "upstreamId": "153777|153778|153779|539040|590788|613493|613494|788856|788857|791170|816354|816355|919391", "text": "Orofaciodigital syndrome xiv" }, { - "baseId": "153787|153788|153789|153790|153791|153792|153793|654801", + "upstreamId": "153787|153788|153789|153790|153791|153792|153793|654801", "text": "Acth-independent macronodular adrenal hyperplasia 2" }, { - "baseId": "153824|153825|453571|453572|453573|453575|453577|453579|453587|453588|453834|453837|453840|453982|454007|454008|454011|454365|454368|454371|513548|520139|520140|520149|520275|520282|520523|520545|520547|520549|520554|559948|562271|562278|632474|632475|632476|632477|632478|632479|632480|632481|632482|632483|632484|632485|651174|651280|691625|691629|691630|698652|698653|782045|829493|829494|829495|829496|829497|923617|932456|944132|944133", + "upstreamId": "153824|153825|453571|453572|453573|453575|453577|453579|453587|453588|453834|453837|453840|453982|454007|454008|454011|454365|454368|454371|513548|520139|520140|520149|520275|520282|520523|520545|520547|520549|520554|559948|562271|562278|632474|632475|632476|632477|632478|632479|632480|632481|632482|632483|632484|632485|651174|651280|691625|691629|691630|698652|698653|782045|829493|829494|829495|829496|829497|923617|932456|944132|944133", "text": "Limb-girdle muscular dystrophy, type 1G" }, { - "baseId": "153826|153827|207421|678968|919041|972773", + "upstreamId": "153826|153827|207421|678968|919041|972773", "text": "Spinocerebellar ataxia 38" }, { - "baseId": "153859|153860|153861|153862|153863|206575|206576|206577|206578|206579|206580|434669|497507|513474|513475|513654|513655|575504|578562|672150|791881|791882|791883|905870|919804|919807|971601|971602", + "upstreamId": "153859|153860|153861|153862|153863|206575|206576|206577|206578|206579|206580|434669|497507|513474|513475|513654|513655|575504|578562|672150|791881|791882|791883|905870|919804|919807|971601|971602", "text": "Poretti-Boltshauser syndrome" }, { - "baseId": "153865|153866|226083|226084|252303|415044|614300|614301|614302|614303|614304|816313|980459|980460", + "upstreamId": "153865|153866|226083|226084|252303|415044|614300|614301|614302|614303|614304|816313|980459|980460", "text": "Vesicoureteral reflux 8" }, { - "baseId": "164076", + "upstreamId": "164076", "text": "Immunodeficiency 26 without neurologic abnormalities" }, { - "baseId": "164077|164078|363870|363992|369480|369483|369486|369491|369498|369976|369977|369979|370260|370264|370265|370268|370270|370272|370276|370277|371875|371906|371915|371919|371922|407395|421681|433863|433864|433865|438392|457879|457885|457890|457892|457895|457898|457906|458476|458477|458479|458481|458523|458532|458534|458536|458545|458549|458551|458560|458944|458945|458947|458949|458961|458962|458963|458970|489679|502026|502336|523587|523589|523591|523592|523600|523604|523607|523609|523614|523621|523629|523633|523634|523922|523926|523928|523929|523931|523938|523943|523944|523946|523947|523953|523955|523959|523962|523965|524191|524194|524195|524196|524198|524199|524201|524203|524206|524207|524208|524211|524213|524215|524218|524221|524223|524231|524235|524243|524249|524250|539013|562431|562434|562439|562442|562444|562447|562452|562454|562457|562461|562463|562465|562467|562469|562962|562964|562966|562968|562970|562978|562981|562983|565145|565147|565150|565153|565155|565157|565160|565161|565164|565166|565172|565175|565177|567935|567943|567944|567956|567962|567966|567971|567974|567981|567986|567987|567991|567993|614320|614321|624373|637228|637229|637230|637231|637232|637233|637234|637235|637236|637237|637238|637239|637240|637241|637242|637243|637244|637245|637246|637247|637248|637249|637250|637251|637252|637253|637254|637255|637256|637257|637258|637259|637260|637261|637262|637263|637264|637265|637266|637267|637268|637269|637270|637271|637272|637273|637274|637275|637276|637277|637278|637279|637280|637281|637282|637283|637284|637285|637286|637287|637288|637289|637290|637291|637292|637293|637294|637295|637296|637297|637298|637299|637300|651753|651788|651790|651802|651804|651808|651904|651980|700597|700598|700599|711553|711554|711555|711556|711558|711559|711560|711561|723118|723119|723121|723124|723125|723126|723128|723129|723130|730580|736690|736691|736692|736696|736697|736698|736699|736700|751183|751185|751187|751188|751191|766837|766840|766849|766852|766853|777710|779290|783121|783128|783129|787609|819968|819969|819970|834796|834797|834798|834799|834800|834801|834802|834803|834804|834805|834806|834807|834808|834809|834810|834811|834812|834813|834814|834815|834816|834817|834818|834819|834820|834821|834822|834823|834824|834825|834826|834827|834828|834829|834830|834831|834832|834833|834834|834835|834836|834837|834838|834839|834840|834841|834842|834843|834844|834845|834846|834847|834848|834849|834850|834851|834852|834853|834854|834855|834856|834857|834858|834859|834860|834861|834862|834863|834864|834865|834866|851203|852140|852444|925210|925211|925212|925213|925214|925215|925216|925217|925218|925219|925220|925221|925222|925223|925224|925225|925226|925227|925228|925229|925230|925231|925232|934324|934325|934326|934327|934328|934329|934330|934331|934332|934333|934334|934335|934336|934337|934338|934339|934340|934341|934342|934343|934344|934345|934346|934347|934348|940107|940108|946087|946088|946089|946090|946091|946092|946093|946094|946095|946096|946097|946098|946099|946100|946101|946102|955431|955432|955433|955434|955435|955436|955437|955438|955439|955440|955441|955442|955443|955444|955445|955446|955447|955448|959895|959896|980461", + "upstreamId": "164077|164078|363870|363992|369480|369483|369486|369491|369498|369976|369977|369979|370260|370264|370265|370268|370270|370272|370276|370277|371875|371906|371915|371919|371922|407395|421681|433863|433864|433865|438392|457879|457885|457890|457892|457895|457898|457906|458476|458477|458479|458481|458523|458532|458534|458536|458545|458549|458551|458560|458944|458945|458947|458949|458961|458962|458963|458970|489679|502026|502336|523587|523589|523591|523592|523600|523604|523607|523609|523614|523621|523629|523633|523634|523922|523926|523928|523929|523931|523938|523943|523944|523946|523947|523953|523955|523959|523962|523965|524191|524194|524195|524196|524198|524199|524201|524203|524206|524207|524208|524211|524213|524215|524218|524221|524223|524231|524235|524243|524249|524250|539013|562431|562434|562439|562442|562444|562447|562452|562454|562457|562461|562463|562465|562467|562469|562962|562964|562966|562968|562970|562978|562981|562983|565145|565147|565150|565153|565155|565157|565160|565161|565164|565166|565172|565175|565177|567935|567943|567944|567956|567962|567966|567971|567974|567981|567986|567987|567991|567993|614320|614321|624373|637228|637229|637230|637231|637232|637233|637234|637235|637236|637237|637238|637239|637240|637241|637242|637243|637244|637245|637246|637247|637248|637249|637250|637251|637252|637253|637254|637255|637256|637257|637258|637259|637260|637261|637262|637263|637264|637265|637266|637267|637268|637269|637270|637271|637272|637273|637274|637275|637276|637277|637278|637279|637280|637281|637282|637283|637284|637285|637286|637287|637288|637289|637290|637291|637292|637293|637294|637295|637296|637297|637298|637299|637300|651753|651788|651790|651802|651804|651808|651904|651980|700597|700598|700599|711553|711554|711555|711556|711558|711559|711560|711561|723118|723119|723121|723124|723125|723126|723128|723129|723130|730580|736690|736691|736692|736696|736697|736698|736699|736700|751183|751185|751187|751188|751191|766837|766840|766849|766852|766853|777710|779290|783121|783128|783129|787609|819968|819969|819970|834796|834797|834798|834799|834800|834801|834802|834803|834804|834805|834806|834807|834808|834809|834810|834811|834812|834813|834814|834815|834816|834817|834818|834819|834820|834821|834822|834823|834824|834825|834826|834827|834828|834829|834830|834831|834832|834833|834834|834835|834836|834837|834838|834839|834840|834841|834842|834843|834844|834845|834846|834847|834848|834849|834850|834851|834852|834853|834854|834855|834856|834857|834858|834859|834860|834861|834862|834863|834864|834865|834866|851203|852140|852444|925210|925211|925212|925213|925214|925215|925216|925217|925218|925219|925220|925221|925222|925223|925224|925225|925226|925227|925228|925229|925230|925231|925232|934324|934325|934326|934327|934328|934329|934330|934331|934332|934333|934334|934335|934336|934337|934338|934339|934340|934341|934342|934343|934344|934345|934346|934347|934348|940107|940108|946087|946088|946089|946090|946091|946092|946093|946094|946095|946096|946097|946098|946099|946100|946101|946102|955431|955432|955433|955434|955435|955436|955437|955438|955439|955440|955441|955442|955443|955444|955445|955446|955447|955448|959895|959896|980461", "text": "Immunodeficiency 26 with or without neurologic abnormalities" }, { - "baseId": "165475|226067|226068|969135", + "upstreamId": "165475|226067|226068|969135", "text": "Nanophthalmos 4" }, { - "baseId": "165513", + "upstreamId": "165513", "text": "Kennedy disease)" }, { - "baseId": "165514|497221", + "upstreamId": "165514|497221", "text": "Deafness, autosomal recessive 102" }, { - "baseId": "165515|165516|919419", + "upstreamId": "165515|165516|919419", "text": "Deafness, autosomal dominant 41" }, { - "baseId": "165521|165522|165523|980297|980349", + "upstreamId": "165521|165522|165523|980297|980349", "text": "Cone-rod dystrophy 20" }, { - "baseId": "165524|538986|576117|918975", + "upstreamId": "165524|538986|576117|918975", "text": "Acromelic frontonasal dysostosis" }, { - "baseId": "165530|165571|486608|514051", + "upstreamId": "165530|165571|486608|514051", "text": "Disproportionate tall stature" }, { - "baseId": "165608|165609|308505|308514|308515|308519|308520|308522|308526|308533|308534|308535|308537|308538|308540|308546|308558|308560|308569|308570|312950|312951|312962|312963|312964|312965|312967|312970|312976|312977|312987|312988|312989|312991|312994|313000|318848|318849|318857|318865|318868|318869|318880|318881|318884|318888|318890|318891|318896|318897|318901|318903|319481|319482|319484|319500|319503|319507|319508|319509|319513|319533|319536|319537|319542|319546|611402|620813|711985|723587|737153|737154|902210|902214|902215|902216|902217|902218|902219|902220|902221|902222|902223|902224|902225|902226|902227|902228|902229|902230|902231|902232|902233|902234|902235|902236|902237|902238|902239|902240|902241|902242|902243|902244|902245|902246|902247|902248|902249|902250|902251|902252|902253|902254|902255|903417|903420|903421|903422|920274", + "upstreamId": "165608|165609|308505|308514|308515|308519|308520|308522|308526|308533|308534|308535|308537|308538|308540|308546|308558|308560|308569|308570|312950|312951|312962|312963|312964|312965|312967|312970|312976|312977|312987|312988|312989|312991|312994|313000|318848|318849|318857|318865|318868|318869|318880|318881|318884|318888|318890|318891|318896|318897|318901|318903|319481|319482|319484|319500|319503|319507|319508|319509|319513|319533|319536|319537|319542|319546|611402|620813|711985|723587|737153|737154|902210|902214|902215|902216|902217|902218|902219|902220|902221|902222|902223|902224|902225|902226|902227|902228|902229|902230|902231|902232|902233|902234|902235|902236|902237|902238|902239|902240|902241|902242|902243|902244|902245|902246|902247|902248|902249|902250|902251|902252|902253|902254|902255|903417|903420|903421|903422|920274", "text": "Dicarboxylic aminoaciduria" }, { - "baseId": "165628|363858|437976|441703|441707|578517|966897|971004", + "upstreamId": "165628|363858|437976|441703|441707|578517|966897|971004", "text": "Spinocerebellar ataxia 40" }, { - "baseId": "165645|166212|166213", + "upstreamId": "165645|166212|166213", "text": "sporadic abdominal aortic aneurysm" }, { - "baseId": "165646|178808|513208|622025|622026|622027", + "upstreamId": "165646|178808|513208|622025|622026|622027", "text": "Familial partial lipodystrophy 6" }, { - "baseId": "165650", + "upstreamId": "165650", "text": "Mental retardation, autosomal recessive 45" }, { - "baseId": "165692|789970", + "upstreamId": "165692|789970", "text": "Breasts and/or nipples, aplasia or hypoplasia of, 2" }, { - "baseId": "165720", + "upstreamId": "165720", "text": "Aplasia cutis congenita (disease)" }, { - "baseId": "165834|185749|187252|361552|372476|373172|373174|373177|373192|373201|373407|373409|375357|375367|375382|408721|421946|437937|437938|445059|462380|462381|462391|462396|462397|462641|462647|463092|463108|463120|463122|463126|463131|463227|463228|463237|463239|463243|463248|463250|463256|504010|504025|504562|527308|527314|527316|527319|527590|527601|527606|527610|527831|527833|527835|540458|565643|565645|566974|566977|566979|566980|568144|568145|568150|571959|609852|623312|641303|641304|641305|641306|641307|641308|641309|641310|652336|682112|693254|693255|693256|702453|738798|778106|840139|840140|840141|840142|840143|840144|840145|905365|926689|926690|926691|936203|940273|941038|956911|960049", + "upstreamId": "165834|185749|187252|361552|372476|373172|373174|373177|373192|373201|373407|373409|375357|375367|375382|408721|421946|437937|437938|445059|462380|462381|462391|462396|462397|462641|462647|463092|463108|463120|463122|463126|463131|463227|463228|463237|463239|463243|463248|463250|463256|504010|504025|504562|527308|527314|527316|527319|527590|527601|527606|527610|527831|527833|527835|540458|565643|565645|566974|566977|566979|566980|568144|568145|568150|571959|609852|623312|641303|641304|641305|641306|641307|641308|641309|641310|652336|682112|693254|693255|693256|702453|738798|778106|840139|840140|840141|840142|840143|840144|840145|905365|926689|926690|926691|936203|940273|941038|956911|960049", "text": "Charcot-Marie-Tooth disease, axonal, type 2u" }, { - "baseId": "165836", + "upstreamId": "165836", "text": "HPGD-Related Disorders" }, { - "baseId": "165849", + "upstreamId": "165849", "text": "Bruxism" }, { - "baseId": "165849|360877|446889|514155", + "upstreamId": "165849|360877|446889|514155", "text": "Stereotypy" }, { - "baseId": "165902", + "upstreamId": "165902", "text": "Hypodysfibrinogenemia" }, { - "baseId": "165903|203240|446446|551711", + "upstreamId": "165903|203240|446446|551711", "text": "developmental delay with seizures" }, { - "baseId": "165912|165913|165914|165915|165916|438236|453150|453156|453158|453159|453203|453569|453576|519616|519669|559233|559537|631812|631813|631814|631815|709073|720670|748574|828603|828604|828605|828606|828607|828608|923368|923369|932097|953603", + "upstreamId": "165912|165913|165914|165915|165916|438236|453150|453156|453158|453159|453203|453569|453576|519616|519669|559233|559537|631812|631813|631814|631815|709073|720670|748574|828603|828604|828605|828606|828607|828608|923368|923369|932097|953603", "text": "Severe congenital neutropenia 6, autosomal recessive" }, { - "baseId": "165912|165913|165914|165915|165916|171707|188298|188299|188300|276501|281295|281299|281300|281937|283195|283196|283207|283353|283368|344680|346087|794204|794205|794206|794207|794208|794209|799087|799088|800983|801231", + "upstreamId": "165912|165913|165914|165915|165916|171707|188298|188299|188300|276501|281295|281299|281300|281937|283195|283196|283207|283353|283368|344680|346087|794204|794205|794206|794207|794208|794209|799087|799088|800983|801231", "text": "Severe congenital neutropenia" }, { - "baseId": "165951|430312|430316", + "upstreamId": "165951|430312|430316", "text": "Hyperinsulinism due to HNF4A deficiency" }, { - "baseId": "165952|165953|178768", + "upstreamId": "165952|165953|178768", "text": "MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3" }, { - "baseId": "165955|165956|363948|364179|467814|486796|568564|570661|570782|574443|574445|645824|704103|715398|715399|727122|727123|755801|755802|845244|845245|949889", + "upstreamId": "165955|165956|363948|364179|467814|486796|568564|570661|570782|574443|574445|645824|704103|715398|715399|727122|727123|755801|755802|845244|845245|949889", "text": "Hyperphosphatasia with mental retardation syndrome 5" }, { - "baseId": "165960", + "upstreamId": "165960", "text": "Single ventricle" }, { - "baseId": "165960", + "upstreamId": "165960", "text": "small Atrial septal defect" }, { - "baseId": "165961", + "upstreamId": "165961", "text": "ungueal dystrophy" }, { - "baseId": "165961", + "upstreamId": "165961", "text": "spino-cellular carcinoma" }, { - "baseId": "165961|514155", + "upstreamId": "165961|514155", "text": "Alopecia" }, { - "baseId": "165961", + "upstreamId": "165961", "text": "dyschromatosis" }, { - "baseId": "165961", + "upstreamId": "165961", "text": "CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA" }, { - "baseId": "166013|166014", + "upstreamId": "166013|166014", "text": "Ectodermal dysplasia/short stature syndrome" }, { - "baseId": "166016|166017", + "upstreamId": "166016|166017", "text": "Hypogonadotropic hypogonadism 22 with anosmia" }, { - "baseId": "166018|166019|260788|590284|623299|681807|818255|965925", + "upstreamId": "166018|166019|260788|590284|623299|681807|818255|965925", "text": "Focal segmental glomerulosclerosis 8" }, { - "baseId": "166020|247498|247499|247500|576292|576293|576294|590027|623369", + "upstreamId": "166020|247498|247499|247500|576292|576293|576294|590027|623369", "text": "Mental retardation, X-linked 61" }, { - "baseId": "166022|166023|428328|963135|972785", + "upstreamId": "166022|166023|428328|963135|972785", "text": "Microcephaly, short stature, and impaired glucose metabolism 1" }, { - "baseId": "166025|368464|369854|369861|446886|501559|521783|524398|565128|626180|633944|633945|633946|709901|721442|749478|782281|818631|830846|830847|924069|932909|944621|954172", + "upstreamId": "166025|368464|369854|369861|446886|501559|521783|524398|565128|626180|633944|633945|633946|709901|721442|749478|782281|818631|830846|830847|924069|932909|944621|954172", "text": "2,4-Dienoyl-CoA reductase deficiency" }, { - "baseId": "166084", + "upstreamId": "166084", "text": "PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM" }, { - "baseId": "166086|166087|166088|166090|166093|166095|166096|166097|166098|166101", + "upstreamId": "166086|166087|166088|166090|166093|166095|166096|166097|166098|166101", "text": "Alloalbuminemia" }, { - "baseId": "166112|166113|408753|576352|656185|791278|961806", + "upstreamId": "166112|166113|408753|576352|656185|791278|961806", "text": "Deafness, autosomal recessive 84" }, { - "baseId": "166142|166143|166144|308847|319276|319887|359755|525186|525188|565966|565974|638391|638392|712032|712033|723631|737203|767483|836277|836278|836279|902443|934825|955897|955898|964743|964744", + "upstreamId": "166142|166143|166144|308847|319276|319887|359755|525186|525188|565966|565974|638391|638392|712032|712033|723631|737203|767483|836277|836278|836279|902443|934825|955897|955898|964743|964744", "text": "Neu-laxova syndrome 2" }, { - "baseId": "166145|166146|222780|230983|243280|243281|243282|243283|243284|243285|403138|403142|403143|403146|403150|403152|403159|403160|403167|403599|403602|403608|403620|403625|403626|403628|469319|469320|469727|470340|470352|470356|470357|470361|532653|532670|532671|532678|532681|533087|572879|572883|574860|574861|647629|647630|647631|647632|647633|647634|647635|647636|647637|653004|684779|694328|821299|847221|847222|847223|847224|852307|852948|928822|938560|938561|941223|950655|950656|960912", + "upstreamId": "166145|166146|222780|230983|243280|243281|243282|243283|243284|243285|403138|403142|403143|403146|403150|403152|403159|403160|403167|403599|403602|403608|403620|403625|403626|403628|469319|469320|469727|470340|470352|470356|470357|470361|532653|532670|532671|532678|532681|533087|572879|572883|574860|574861|647629|647630|647631|647632|647633|647634|647635|647636|647637|653004|684779|694328|821299|847221|847222|847223|847224|852307|852948|928822|938560|938561|941223|950655|950656|960912", "text": "Ciliary dyskinesia, primary, 30" }, { - "baseId": "166147|166148|918591|964141", + "upstreamId": "166147|166148|918591|964141", "text": "Myasthenic syndrome, congenital, 7, presynaptic" }, { - "baseId": "166149", + "upstreamId": "166149", "text": "Charcot-Marie-Tooth disease, recessive intermediate d" }, { - "baseId": "166182|166183|166184|166185|166186|166192|187205|187206|187207|190125|190129|260850|414991|425622|428353|428354|428356|428357|443692|454720|454730|455177|455180|455183|455188|455453|481311|481451|481452|481725|488154|521049|521184|521236|521249|535289|550598|551772|560169|560270|560272|560274|560276|562863|562867|562878|562881|564817|564820|564828|564832|564833|579028|579115|612146|623231|633499|633500|633501|633502|633503|633504|633505|633506|633507|633508|633509|653866|678061|698824|698825|698826|698827|698828|698829|698830|698831|698832|698833|698834|698835|698836|698837|698838|698839|698840|698841|698842|698843|698844|698845|698846|698847|698848|709660|749262|749263|782187|790518|790519|798551|800667|815979|819560|830373|830374|830375|830376|830377|830378|830379|918923|923894|923895|923896|923897|932735|932736|932737|932738|944422|944423|954055|954056|954057|954058|963137|963571|964069|964718|964821|972716", + "upstreamId": "166182|166183|166184|166185|166186|166192|187205|187206|187207|190125|190129|260850|414991|425622|428353|428354|428356|428357|443692|454720|454730|455177|455180|455183|455188|455453|481311|481451|481452|481725|488154|521049|521184|521236|521249|535289|550598|551772|560169|560270|560272|560274|560276|562863|562867|562878|562881|564817|564820|564828|564832|564833|579028|579115|612146|623231|633499|633500|633501|633502|633503|633504|633505|633506|633507|633508|633509|653866|678061|698824|698825|698826|698827|698828|698829|698830|698831|698832|698833|698834|698835|698836|698837|698838|698839|698840|698841|698842|698843|698844|698845|698846|698847|698848|709660|749262|749263|782187|790518|790519|798551|800667|815979|819560|830373|830374|830375|830376|830377|830378|830379|918923|923894|923895|923896|923897|932735|932736|932737|932738|944422|944423|954055|954056|954057|954058|963137|963571|964069|964718|964821|972716", "text": "Mental retardation, autosomal dominant 31" }, { - "baseId": "166195|166196|166197|166198", + "upstreamId": "166195|166196|166197|166198", "text": "Mitochondrial complex 4 deficiency, nuclear type 17" }, { - "baseId": "166199", + "upstreamId": "166199", "text": "Combined oxidative phosphorylation deficiency 22" }, { - "baseId": "166206|166207|185751|185752|215649|215650|353899|359810|364135|370650|384437|384438|407832|421784|444573|481236|481364|481365|481366|481367|481368|677430|678970|679768|679769|790946|790947|790948|790949|790950|790951|790952|858592|961042|961045|961785|969130|974519|974520", + "upstreamId": "166206|166207|185751|185752|215649|215650|353899|359810|364135|370650|384437|384438|407832|421784|444573|481236|481364|481365|481366|481367|481368|677430|678970|679768|679769|790946|790947|790948|790949|790950|790951|790952|858592|961042|961045|961785|969130|974519|974520", "text": "Mitochondrial short-chain enoyl-coa hydratase 1 deficiency" }, { - "baseId": "166215|623005|623006|623013", + "upstreamId": "166215|623005|623006|623013", "text": "Glioblastoma multiforme, somatic" }, { - "baseId": "166215|623008|623014", + "upstreamId": "166215|623008|623014", "text": "Oligodendroglioma" }, { - "baseId": "166215", + "upstreamId": "166215", "text": "Metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria" }, { - "baseId": "166218|166219|166220|166221|166222|166224|363377", + "upstreamId": "166218|166219|166220|166221|166222|166224|363377", "text": "Cowden syndrome 5" }, { - "baseId": "166303|167510|215090", + "upstreamId": "166303|167510|215090", "text": "Early-onset parkinsonism-intellectual disability syndrome" }, { - "baseId": "166304|166305|166306|260231|360423|377076|377084|378076|378077|378082|378083|378110|378112|378114|378124|378277|378280|378293|378294|378312|378323|378326|379712|379713|379714|379715|379718|379719|379720|379721|404843|404844|410766|413604|422321|422322|446262|446266|469403|469411|470452|470457|470459|470460|470941|470948|470956|470958|471425|471427|507204|508206|508220|533568|533574|533622|533646|534143|534159|534161|535710|550642|571276|571278|571285|571290|571291|571295|571303|572927|572937|573569|573574|575114|575115|575116|614475|622051|622058|622063|648754|648755|648756|648757|648758|648759|648760|648761|648762|648763|648764|648765|648766|705541|728714|773153|773154|788939|791987|791988|816494|821333|821334|822159|822160|822161|822162|822163|822164|822165|822166|822167|822168|822169|822170|822171|822172|848466|848467|848468|848469|848470|848471|848472|848473|848474|848475|848476|848477|848478|858356|904943|929217|929218|929219|929220|929221|929222|938999|939000|939001|939002|939003|939004|939005|939006|939007|951120|951121|951122|951123|951124|951125|951126|951127|958856|958857|971146|971147|971148", + "upstreamId": "166304|166305|166306|260231|360423|377076|377084|378076|378077|378082|378083|378110|378112|378114|378124|378277|378280|378293|378294|378312|378323|378326|379712|379713|379714|379715|379718|379719|379720|379721|404843|404844|410766|413604|422321|422322|446262|446266|469403|469411|470452|470457|470459|470460|470941|470948|470956|470958|471425|471427|507204|508206|508220|533568|533574|533622|533646|534143|534159|534161|535710|550642|571276|571278|571285|571290|571291|571295|571303|572927|572937|573569|573574|575114|575115|575116|614475|622051|622058|622063|648754|648755|648756|648757|648758|648759|648760|648761|648762|648763|648764|648765|648766|705541|728714|773153|773154|788939|791987|791988|816494|821333|821334|822159|822160|822161|822162|822163|822164|822165|822166|822167|822168|822169|822170|822171|822172|848466|848467|848468|848469|848470|848471|848472|848473|848474|848475|848476|848477|848478|858356|904943|929217|929218|929219|929220|929221|929222|938999|939000|939001|939002|939003|939004|939005|939006|939007|951120|951121|951122|951123|951124|951125|951126|951127|958856|958857|971146|971147|971148", "text": "Epileptic encephalopathy, early infantile, 26" }, { - "baseId": "166346|166347|578377|626355|626356|626357|626358|626359|789934", + "upstreamId": "166346|166347|578377|626355|626356|626357|626358|626359|789934", "text": "Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia" }, { - "baseId": "166347|177103|177947|181382|193745|195045|251311|263244|267620|268631|284995|286978|288841|292026|292032|292033|293465|296770|296771|296774|296776|296778|296779|296782|296783|296786|318059|318060|318062|325979|325984|325996|332232|333745|343631|343665|343666|361067|361069|513949|513961|514013|550314|613458|801079|889930|889931|889932|889933|889934|889935|889936|889937|889938|889939|889940|889941|889942|889943|889944|889945|889946|889947|889948|889949|889950|889951|889952|889953|889954|889955|889956|889957|889958|889959|889960|889961|889962|889963|889964|889965|889966|889967|889968|889969|889970|891736|891737|983725|983747", + "upstreamId": "166347|177103|177947|181382|193745|195045|251311|263244|267620|268631|284995|286978|288841|292026|292032|292033|293465|296770|296771|296774|296776|296778|296779|296782|296783|296786|318059|318060|318062|325979|325984|325996|332232|333745|343631|343665|343666|361067|361069|513949|513961|514013|550314|613458|801079|889930|889931|889932|889933|889934|889935|889936|889937|889938|889939|889940|889941|889942|889943|889944|889945|889946|889947|889948|889949|889950|889951|889952|889953|889954|889955|889956|889957|889958|889959|889960|889961|889962|889963|889964|889965|889966|889967|889968|889969|889970|891736|891737|983725|983747", "text": "Cataract (disease)" }, { - "baseId": "166347", + "upstreamId": "166347", "text": "growth hormone deficiency with short stature" }, { - "baseId": "166347", + "upstreamId": "166347", "text": "partial sensorineural deafness" }, { - "baseId": "166361|166362|166363|188140|225871|264472|361193|363965|369776|369794|370245|370250|370251|370252|370256|370261|370275|370280|370297|370565|370587|370589|370591|370605|372170|413797|421706|444365|458308|458321|458326|458819|458830|458869|458870|458872|458879|458883|459330|459332|486455|486749|502157|502170|502171|502909|502920|511029|511794|511796|523999|524004|524292|524307|524308|524312|524540|524543|524546|524602|524604|562789|562794|562796|562801|562810|563485|565533|565540|578355|579520|579762|614335|637726|637727|637728|637729|637730|637731|637732|637733|637734|637735|637736|651823|651871|751406|767107|767109|767110|767111|767113|767114|767115|775479|777974|783272|783274|783275|790842|815989|820069|820070|821959|821960|821961|821962|821963|821964|822262|822263|835504|835505|835506|835507|835508|835509|835510|835511|835512|835513|835514|835515|835516|852162|925386|925387|925388|934550|934551|946376|946377|946378|946379|946380|946381|946382|955691|955692|970892|970893|970894", + "upstreamId": "166361|166362|166363|188140|225871|264472|361193|363965|369776|369794|370245|370250|370251|370252|370256|370261|370275|370280|370297|370565|370587|370589|370591|370605|372170|413797|421706|444365|458308|458321|458326|458819|458830|458869|458870|458872|458879|458883|459330|459332|486455|486749|502157|502170|502171|502909|502920|511029|511794|511796|523999|524004|524292|524307|524308|524312|524540|524543|524546|524602|524604|562789|562794|562796|562801|562810|563485|565533|565540|578355|579520|579762|614335|637726|637727|637728|637729|637730|637731|637732|637733|637734|637735|637736|651823|651871|751406|767107|767109|767110|767111|767113|767114|767115|775479|777974|783272|783274|783275|790842|815989|820069|820070|821959|821960|821961|821962|821963|821964|822262|822263|835504|835505|835506|835507|835508|835509|835510|835511|835512|835513|835514|835515|835516|852162|925386|925387|925388|934550|934551|946376|946377|946378|946379|946380|946381|946382|955691|955692|970892|970893|970894", "text": "Epileptic encephalopathy, early infantile, 31" }, { - "baseId": "166366|166369", + "upstreamId": "166366|166369", "text": "Hypogonadotropic hypogonadism 3 without anosmia" }, { - "baseId": "166402|166403|578578", + "upstreamId": "166402|166403|578578", "text": "Porokeratosis 8, disseminated superficial actinic type" }, { - "baseId": "166440|166441|404862|800377", + "upstreamId": "166440|166441|404862|800377", "text": "Ovarian dysgenesis 4" }, { - "baseId": "166525", + "upstreamId": "166525", "text": "Severe underweight in infancy childhood and adolescence" }, { - "baseId": "166525|624117", + "upstreamId": "166525|624117", "text": "Psychomotor retardation" }, { - "baseId": "166581|166583|166588|166594|166597|166600|166605|166608|166615|166619|166624|166631|166643|166647|166651|166652|166653|166657|166661|166676|166679|166682|166688|166691|166709|166712|166718|166726|166746|166756|166760|166786|166787|166800|166802|166818|166819|166825|166835|166840|166842|166847|166848|166849|166853|166856|166858|166862|166863|166881|166883|166909|166919|166941|166942|166945|166947|166961|166965|166981|166986|166992|166993|166995|167007|167015|167017|167023|167035|167045|167058|167069|167084|167091|167092|167096|167099|167107|167127|167128|167139|167145|167153|167156|167158|167160|167162|167163|167165|167168|167171|167187|167190|167194|167208|167210|167219|167222|167226|167238|167240|167245|167246|167247|167248|167256|167261|167262|167265|167269|167271|167279|167280|167283|167295|167303|167317|167327|167333|167334|167336|223422|514002|514192|514215", + "upstreamId": "166581|166583|166588|166594|166597|166600|166605|166608|166615|166619|166624|166631|166643|166647|166651|166652|166653|166657|166661|166676|166679|166682|166688|166691|166709|166712|166718|166726|166746|166756|166760|166786|166787|166800|166802|166818|166819|166825|166835|166840|166842|166847|166848|166849|166853|166856|166858|166862|166863|166881|166883|166909|166919|166941|166942|166945|166947|166961|166965|166981|166986|166992|166993|166995|167007|167015|167017|167023|167035|167045|167058|167069|167084|167091|167092|167096|167099|167107|167127|167128|167139|167145|167153|167156|167158|167160|167162|167163|167165|167168|167171|167187|167190|167194|167208|167210|167219|167222|167226|167238|167240|167245|167246|167247|167248|167256|167261|167262|167265|167269|167271|167279|167280|167283|167295|167303|167317|167327|167333|167334|167336|223422|514002|514192|514215", "text": "Large for gestational age" }, { - "baseId": "166584|166589|166590|166591|166596|166602|166605|166608|166615|166621|166626|166628|166633|166637|166640|166646|166647|166657|166660|166663|166670|166673|166676|166679|166681|166689|166691|166695|166696|166699|166701|166702|166706|166709|166714|166715|166716|166718|166729|166730|166734|166740|166743|166745|166746|166751|166753|166754|166756|166761|166762|166763|166766|166767|166768|166774|166775|166777|166778|166781|166782|166792|166794|166796|166801|166802|166815|166819|166823|166829|166830|166832|166835|166839|166840|166845|166846|166855|166860|166866|166869|166870|166871|166872|166873|166874|166875|166876|166877|166881|166885|166887|166890|166893|166895|166896|166898|166901|166905|166907|166909|166918|166920|166921|166922|166924|166925|166926|166929|166931|166932|166940|166943|166944|166947|166954|166959|166961|166963|166965|166966|166967|166982|166983|166989|166990|166991|166998|167006|167007|167011|167012|167014|167021|167025|167034|167035|167038|167039|167043|167045|167047|167048|167049|167050|167051|167056|167058|167062|167066|167074|167076|167078|167079|167092|167098|167105|167113|167114|167116|167117|167120|167121|167124|167129|167130|167132|167137|167142|167143|167148|167152|167157|167159|167161|167167|167169|167178|167180|167185|167186|167190|167196|167197|167200|167203|167206|167214|167216|167218|167228|167229|167231|167232|167234|167236|167240|167247|167248|167256|167259|167268|167270|167274|167280|167283|167290|167296|167301|167306|167308|167309|167311|167315|167316|167320|167321|167328|167331|167332|167336|167340|167341|223411|223422|223430", + "upstreamId": "166584|166589|166590|166591|166596|166602|166605|166608|166615|166621|166626|166628|166633|166637|166640|166646|166647|166657|166660|166663|166670|166673|166676|166679|166681|166689|166691|166695|166696|166699|166701|166702|166706|166709|166714|166715|166716|166718|166729|166730|166734|166740|166743|166745|166746|166751|166753|166754|166756|166761|166762|166763|166766|166767|166768|166774|166775|166777|166778|166781|166782|166792|166794|166796|166801|166802|166815|166819|166823|166829|166830|166832|166835|166839|166840|166845|166846|166855|166860|166866|166869|166870|166871|166872|166873|166874|166875|166876|166877|166881|166885|166887|166890|166893|166895|166896|166898|166901|166905|166907|166909|166918|166920|166921|166922|166924|166925|166926|166929|166931|166932|166940|166943|166944|166947|166954|166959|166961|166963|166965|166966|166967|166982|166983|166989|166990|166991|166998|167006|167007|167011|167012|167014|167021|167025|167034|167035|167038|167039|167043|167045|167047|167048|167049|167050|167051|167056|167058|167062|167066|167074|167076|167078|167079|167092|167098|167105|167113|167114|167116|167117|167120|167121|167124|167129|167130|167132|167137|167142|167143|167148|167152|167157|167159|167161|167167|167169|167178|167180|167185|167186|167190|167196|167197|167200|167203|167206|167214|167216|167218|167228|167229|167231|167232|167234|167236|167240|167247|167248|167256|167259|167268|167270|167274|167280|167283|167290|167296|167301|167306|167308|167309|167311|167315|167316|167320|167321|167328|167331|167332|167336|167340|167341|223411|223422|223430", "text": "Normal pregnancy" }, { - "baseId": "166585|166591|166593|166612|166615|166618|166622|166625|166629|166630|166632|166636|166639|166641|166645|166647|166656|166664|166668|166670|166678|166683|166686|166689|166694|166697|166698|166704|166706|166715|166716|166718|166728|166729|166734|166736|166737|166743|166746|166764|166765|166769|166771|166772|166778|166785|166790|166791|166795|166797|166799|166802|166806|166808|166809|166810|166814|166819|166826|166830|166832|166834|166835|166838|166840|166865|166877|166892|166894|166897|166899|166901|166903|166906|166909|166923|166932|166935|166937|166947|166952|166954|166956|166958|166967|166973|166974|166976|166979|166980|166987|166994|166997|167002|167003|167015|167020|167026|167029|167032|167035|167042|167057|167060|167061|167068|167069|167074|167082|167085|167086|167087|167088|167090|167092|167102|167103|167107|167118|167126|167131|167134|167137|167147|167148|167154|167155|167172|167176|167180|167184|167192|167194|167199|167200|167209|167225|167227|167230|167235|167237|167243|167244|167248|167254|167263|167275|167276|167289|167294|167296|167300|167302|167303|167313|167318|167324|167335", + "upstreamId": "166585|166591|166593|166612|166615|166618|166622|166625|166629|166630|166632|166636|166639|166641|166645|166647|166656|166664|166668|166670|166678|166683|166686|166689|166694|166697|166698|166704|166706|166715|166716|166718|166728|166729|166734|166736|166737|166743|166746|166764|166765|166769|166771|166772|166778|166785|166790|166791|166795|166797|166799|166802|166806|166808|166809|166810|166814|166819|166826|166830|166832|166834|166835|166838|166840|166865|166877|166892|166894|166897|166899|166901|166903|166906|166909|166923|166932|166935|166937|166947|166952|166954|166956|166958|166967|166973|166974|166976|166979|166980|166987|166994|166997|167002|167003|167015|167020|167026|167029|167032|167035|167042|167057|167060|167061|167068|167069|167074|167082|167085|167086|167087|167088|167090|167092|167102|167103|167107|167118|167126|167131|167134|167137|167147|167148|167154|167155|167172|167176|167180|167184|167192|167194|167199|167200|167209|167225|167227|167230|167235|167237|167243|167244|167248|167254|167263|167275|167276|167289|167294|167296|167300|167302|167303|167313|167318|167324|167335", "text": "Gestational diabetes mellitus uncontrolled" }, { - "baseId": "166587|166594|166603|166611|166613|166635|166638|166644|166647|166653|166655|166657|166661|166665|166669|166684|166685|166691|166705|166706|166709|166715|166716|166719|166728|166729|166737|166741|166746|166756|166759|166776|166784|166788|166806|166812|166813|166817|166819|166823|166826|166854|166859|166860|166867|166877|166878|166888|166891|166900|166903|166908|166909|166914|166916|166917|166928|166930|166932|166938|166946|166949|166950|166956|166960|166963|166966|166972|166977|166996|166998|167007|167018|167021|167023|167028|167040|167051|167055|167063|167064|167065|167067|167069|167077|167080|167092|167097|167104|167108|167110|167115|167124|167132|167135|167137|167144|167146|167150|167166|167172|167180|167189|167193|167198|167205|167206|167211|167213|167215|167217|167221|167224|167233|167239|167240|167248|167254|167256|167265|167272|167277|167280|167283|167287|167288|167290|167296|167303|167307|167312|167314|167319|167322|167325|167326|167330|167336|223543", + "upstreamId": "166587|166594|166603|166611|166613|166635|166638|166644|166647|166653|166655|166657|166661|166665|166669|166684|166685|166691|166705|166706|166709|166715|166716|166719|166728|166729|166737|166741|166746|166756|166759|166776|166784|166788|166806|166812|166813|166817|166819|166823|166826|166854|166859|166860|166867|166877|166878|166888|166891|166900|166903|166908|166909|166914|166916|166917|166928|166930|166932|166938|166946|166949|166950|166956|166960|166963|166966|166972|166977|166996|166998|167007|167018|167021|167023|167028|167040|167051|167055|167063|167064|167065|167067|167069|167077|167080|167092|167097|167104|167108|167110|167115|167124|167132|167135|167137|167144|167146|167150|167166|167172|167180|167189|167193|167198|167205|167206|167211|167213|167215|167217|167221|167224|167233|167239|167240|167248|167254|167256|167265|167272|167277|167280|167283|167287|167288|167290|167296|167303|167307|167312|167314|167319|167322|167325|167326|167330|167336|223543", "text": "Preeclampsia" }, { - "baseId": "167355|167356|920198", + "upstreamId": "167355|167356|920198", "text": "Primary autosomal recessive microcephaly 13" }, { - "baseId": "167357", + "upstreamId": "167357", "text": "Inflammatory skin and bowel disease, neonatal, 2" }, { - "baseId": "167358", + "upstreamId": "167358", "text": "Mirror movements 3" }, { - "baseId": "167369", + "upstreamId": "167369", "text": "Primary autosomal recessive microcephaly 12" }, { - "baseId": "167379|167380|167381", + "upstreamId": "167379|167380|167381", "text": "Neuroendocrine neoplasm" }, { - "baseId": "167389|263250|361005|440711|622268|861283|969269", + "upstreamId": "167389|263250|361005|440711|622268|861283|969269", "text": "Spasticity" }, { - "baseId": "167409|167410|167411", + "upstreamId": "167409|167410|167411", "text": "Laurin-Sandrow syndrome" }, { - "baseId": "167413|167414|167415|167416|167417|205263|227161|360917|380443|424615|424656|919265|961651|964341", + "upstreamId": "167413|167414|167415|167416|167417|205263|227161|360917|380443|424615|424656|919265|961651|964341", "text": "Mental retardation, autosomal dominant 30" }, { - "baseId": "167459", + "upstreamId": "167459", "text": "NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IID" }, { - "baseId": "167465|440249|622491|920004|920005|964593|964594", + "upstreamId": "167465|440249|622491|920004|920005|964593|964594", "text": "Intellectual disability, X-linked, syndromic, Houge type" }, { - "baseId": "167466", + "upstreamId": "167466", "text": "Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities" }, { - "baseId": "167468|167469|539050|791343|802184|802185", + "upstreamId": "167468|167469|539050|791343|802184|802185", "text": "Pontocerebellar hypoplasia, type 1c" }, { - "baseId": "167472", + "upstreamId": "167472", "text": "TYPE 2 DIABETES MELLITUS 5, SUSCEPTIBILITY TO" }, { - "baseId": "167473|167474|167475|167475|167476|167477|167478|236731|367083|367089|367090|368385|389592|406178|452052|452316|482270|500170|500178|500184|519236|519250|519251|519254|561367|631147|631148|631149|631150|631151|631152|631153|631154|631155|631156|631157|631158|631159|631160|631161|631162|631163|631164|631165|631166|651053|651169|679744|698029|698030|698031|698032|708785|720394|730207|816310|819365|827870|827871|827872|827873|827874|827875|827876|827877|827878|827879|827880|827881|827882|827883|827884|827885|827886|827887|827888|827889|827890|827891|827892|827893|850924|918827|923132|923133|923134|923135|923136|923137|923138|931884|931885|931886|931887|943464|943465|943466|943467|943468|943469|943470|943471|943472|943472|943473|953424|953425|953426|953427|953428|953429", + "upstreamId": "167473|167474|167475|167475|167476|167477|167478|236731|367083|367089|367090|368385|389592|406178|452052|452316|482270|500170|500178|500184|519236|519250|519251|519254|561367|631147|631148|631149|631150|631151|631152|631153|631154|631155|631156|631157|631158|631159|631160|631161|631162|631163|631164|631165|631166|651053|651169|679744|698029|698030|698031|698032|708785|720394|730207|816310|819365|827870|827871|827872|827873|827874|827875|827876|827877|827878|827879|827880|827881|827882|827883|827884|827885|827886|827887|827888|827889|827890|827891|827892|827893|850924|918827|923132|923133|923134|923135|923136|923137|923138|931884|931885|931886|931887|943464|943465|943466|943467|943468|943469|943470|943471|943472|943472|943473|953424|953425|953426|953427|953428|953429", "text": "Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay" }, { - "baseId": "167475|236729|236730|236731|236732|816310|943472", + "upstreamId": "167475|236729|236730|236731|236732|816310|943472", "text": "Retinitis pigmentosa and erythrocytic microcytosis" }, { - "baseId": "167501|167502|178316|372621|372623|372638|372644|372648|373314|373319|373320|373327|373597|373602|375517|375518|408802|445120|462570|462573|462574|462578|462592|462593|462862|462870|462875|462877|462879|462883|463337|463339|463341|463352|463357|463364|463369|463377|463457|463459|463461|463463|463464|463467|463470|463479|504710|512056|512057|512058|527464|527467|527471|527495|527499|527501|527737|527739|527743|565861|565863|565865|565868|567181|567184|567186|568257|568260|568261|568263|568266|572205|576157|626220|641558|641559|641560|641561|641562|641563|641564|641565|641566|641567|641568|641569|641570|641571|641572|641573|641574|641575|641576|656195|702599|702600|713832|713833|725375|730898|738952|744759|753719|760285|769408|769411|787808|820544|820545|820546|840541|840542|840543|840544|840545|840546|840547|840548|840549|840550|840551|840552|840553|840554|840555|840556|840557|840558|840559|840560|840561|840562|840563|840564|840565|840566|840567|840568|840569|840570|840571|840572|840573|840574|851963|851965|852706|852708|926803|926804|926805|926806|926807|926808|926809|926810|926811|926812|936335|936336|936337|936338|936339|936340|936341|936342|936343|936344|936345|936346|936347|936348|936349|936350|936351|936352|940277|941047|948260|948261|948262|948263|948264|948265|948266|948267|948268|948269|948270|948271|957021|957022|957023|957024|957025|957026|960071|961240", + "upstreamId": "167501|167502|178316|372621|372623|372638|372644|372648|373314|373319|373320|373327|373597|373602|375517|375518|408802|445120|462570|462573|462574|462578|462592|462593|462862|462870|462875|462877|462879|462883|463337|463339|463341|463352|463357|463364|463369|463377|463457|463459|463461|463463|463464|463467|463470|463479|504710|512056|512057|512058|527464|527467|527471|527495|527499|527501|527737|527739|527743|565861|565863|565865|565868|567181|567184|567186|568257|568260|568261|568263|568266|572205|576157|626220|641558|641559|641560|641561|641562|641563|641564|641565|641566|641567|641568|641569|641570|641571|641572|641573|641574|641575|641576|656195|702599|702600|713832|713833|725375|730898|738952|744759|753719|760285|769408|769411|787808|820544|820545|820546|840541|840542|840543|840544|840545|840546|840547|840548|840549|840550|840551|840552|840553|840554|840555|840556|840557|840558|840559|840560|840561|840562|840563|840564|840565|840566|840567|840568|840569|840570|840571|840572|840573|840574|851963|851965|852706|852708|926803|926804|926805|926806|926807|926808|926809|926810|926811|926812|936335|936336|936337|936338|936339|936340|936341|936342|936343|936344|936345|936346|936347|936348|936349|936350|936351|936352|940277|941047|948260|948261|948262|948263|948264|948265|948266|948267|948268|948269|948270|948271|957021|957022|957023|957024|957025|957026|960071|961240", "text": "Combined oxidative phosphorylation deficiency 27" }, { - "baseId": "167590|167593|167595|167597|167601|167605|167608|167609|167612|167614", + "upstreamId": "167590|167593|167595|167597|167601|167605|167608|167609|167612|167614", "text": "epileptic encephalopathy, early infanitle, 1" }, { - "baseId": "167927|170213|170214", + "upstreamId": "167927|170213|170214", "text": "Monocarboxylate transporter 1 deficiency, autosomal recessive" }, { - "baseId": "167930|167933|167936|170215|170216", + "upstreamId": "167930|167933|167936|170215|170216", "text": "Monocarboxylate transporter 1 deficiency, autosomal dominant" }, { - "baseId": "167939", + "upstreamId": "167939", "text": "Palmoplantar keratoderma and woolly hair" }, { - "baseId": "168042|168046|168047|168048|168053|194308|271236|273839|274119|274667|285391|286034|288354|288356|288357|288358|288359|288775|288783|427998|428000|428001|428002|430990|491568|538965|585621|586242|587512|588639|733280|884201|884202|884203|884204|884205|884206|884207|884208|884209|884210|884211|884212|884213|884214|884215|884216|884217", + "upstreamId": "168042|168046|168047|168048|168053|194308|271236|273839|274119|274667|285391|286034|288354|288356|288357|288358|288359|288775|288783|427998|428000|428001|428002|430990|491568|538965|585621|586242|587512|588639|733280|884201|884202|884203|884204|884205|884206|884207|884208|884209|884210|884211|884212|884213|884214|884215|884216|884217", "text": "Crigler-Najjar syndrome" }, { - "baseId": "168060|206986|206992|285585|286315", + "upstreamId": "168060|206986|206992|285585|286315", "text": "D-2-hydroxyglutaric aciduria" }, { - "baseId": "168105|168107", + "upstreamId": "168105|168107", "text": "Malformation of the heart and great vessels" }, { - "baseId": "168166|168191|195012|297027|297047|297083|298909|298925|298999|303194|303203|303206|303222|303407|303412|303413|303415|303426|964105", + "upstreamId": "168166|168191|195012|297027|297047|297083|298909|298925|298999|303194|303203|303206|303222|303407|303412|303413|303415|303426|964105", "text": "Sotos syndrome" }, { - "baseId": "168168|263193|263281|590070", + "upstreamId": "168168|263193|263281|590070", "text": "18 conditions" }, { - "baseId": "168552|513559|538953|578439", + "upstreamId": "168552|513559|538953|578439", "text": "Febrile seizures, familial, 1" }, { - "baseId": "168576", + "upstreamId": "168576", "text": "EZH2-related disorder" }, { - "baseId": "168624|205031|243985|263296|263364|361003|361041|485953|513907|626445|626446|626447|742154|805068|805101|805102|861055|861056|905848", + "upstreamId": "168624|205031|243985|263296|263364|361003|361041|485953|513907|626445|626446|626447|742154|805068|805101|805102|861055|861056|905848", "text": "Ventricular septal defect" }, { - "baseId": "168800|168804", + "upstreamId": "168800|168804", "text": "Brachydactyly, type B1Robinow syndrome, autosomal recessive" }, { - "baseId": "168841|168842|168843|168844|168845|168846|168847|168848|168849|207789|315788|429121|430995|495467|679093|679094|679095|679188|752193|866044|866045|866046|866047|866048|866049|866050|866051|866052|866053|866054|866055|866056|866057|866058|866059|866060|866061|866062|866063|866064|866065|866066|866067|866068|866069|866070|866071|868484|868485|963073", + "upstreamId": "168841|168842|168843|168844|168845|168846|168847|168848|168849|207789|315788|429121|430995|495467|679093|679094|679095|679188|752193|866044|866045|866046|866047|866048|866049|866050|866051|866052|866053|866054|866055|866056|866057|866058|866059|866060|866061|866062|866063|866064|866065|866066|866067|866068|866069|866070|866071|868484|868485|963073", "text": "Goldberg-Shprintzen megacolon syndrome" }, { - "baseId": "169007|801184", + "upstreamId": "169007|801184", "text": "Decreased head circumference" }, { - "baseId": "169016|169039|190891|192899|289000|289757|289779|289781|292804|292808|292867|293072|319325|319332|327852|327862|334164|334169|335745|335746|335794|335803|335834|340750|340754|347942|497068|578412", + "upstreamId": "169016|169039|190891|192899|289000|289757|289779|289781|292804|292808|292867|293072|319325|319332|327852|327862|334164|334169|335745|335746|335794|335803|335834|340750|340754|347942|497068|578412", "text": "Seckel syndrome" }, { - "baseId": "169192|208245|226386|271568|429774", + "upstreamId": "169192|208245|226386|271568|429774", "text": "NDE1-related microhydranencephaly" }, { - "baseId": "169548|169570|171228|171230|171233|171241|171242|171244|179700|676957|676970|682183|974511|974512", + "upstreamId": "169548|169570|171228|171230|171233|171241|171242|171244|179700|676957|676970|682183|974511|974512", "text": "Congenital myopathy" }, { - "baseId": "169564", + "upstreamId": "169564", "text": "Multi-minicore disease and atypical periodic paralysis" }, { - "baseId": "169692|351957|351958|351959|351988|352002|352006|352007", + "upstreamId": "169692|351957|351958|351959|351988|352002|352006|352007", "text": "Microcephalic osteodysplastic primordial dwarfism" }, { - "baseId": "169841|590085|801184|965474", + "upstreamId": "169841|590085|801184|965474", "text": "Sleep disturbance" }, { - "baseId": "169841|590085", + "upstreamId": "169841|590085", "text": "Paroxysmal choreoathetosis" }, { - "baseId": "170183", + "upstreamId": "170183", "text": "Decreased activity of the pyruvate dehydrogenase complex" }, { - "baseId": "170189", + "upstreamId": "170189", "text": "Skin/hair/eye pigmentation, variation in, 8" }, { - "baseId": "170190|448249|448384|448386|448440|516093|558599|628272|628273|628274|762092|774561|780772|787062|824427|824428|824429|850814|922163|922164|930665|930666|930667|942105|942106", + "upstreamId": "170190|448249|448384|448386|448440|516093|558599|628272|628273|628274|762092|774561|780772|787062|824427|824428|824429|850814|922163|922164|930665|930666|930667|942105|942106", "text": "Immunodeficiency 37" }, { - "baseId": "170198", + "upstreamId": "170198", "text": "Hydroxykynureninuria" }, { - "baseId": "170210|501748|539001", + "upstreamId": "170210|501748|539001", "text": "Deafness, autosomal recessive 103" }, { - "baseId": "170213|788722", + "upstreamId": "170213|788722", "text": "Monocarboxylate transporter 1 deficiency" }, { - "baseId": "170219|170220", + "upstreamId": "170219|170220", "text": "Psoriasis 15, pustular, susceptibility to" }, { - "baseId": "170953|170954|170955|170956|170957|170958|424446|424447|425459|425459|450276|450400|450403|450428|450526|486606|517539|517642|517650|517656|517659|517793|557818|557820|557822|557867|557869|559049|560545|560547|612437|629309|629310|629311|629312|629313|629314|629315|629316|733077|747175|781114|799281|819104|819105|825605|825606|825607|825608|825609|825610|825611|825612|825613|850827|851388|922522|922523|922524|922525|931080|940687|942566|942567|942568|942569|952889|959623|960461|961933|961992", + "upstreamId": "170953|170954|170955|170956|170957|170958|424446|424447|425459|425459|450276|450400|450403|450428|450526|486606|517539|517642|517650|517656|517659|517793|557818|557820|557822|557867|557869|559049|560545|560547|612437|629309|629310|629311|629312|629313|629314|629315|629316|733077|747175|781114|799281|819104|819105|825605|825606|825607|825608|825609|825610|825611|825612|825613|850827|851388|922522|922523|922524|922525|931080|940687|942566|942567|942568|942569|952889|959623|960461|961933|961992", "text": "Autoimmune lymphoproliferatiVe syndrome, type V" }, { - "baseId": "170959|170960", + "upstreamId": "170959|170960", "text": "Retinal dystrophy, juvenile cataracts, and short stature syndrome" }, { - "baseId": "170964", + "upstreamId": "170964", "text": "Mitochondrial complex III deficiency, nuclear type 9" }, { - "baseId": "171000|203766|263200", + "upstreamId": "171000|203766|263200", "text": "Epicanthus" }, { - "baseId": "171000|263200", + "upstreamId": "171000|263200", "text": "Abnormality of earlobe" }, { - "baseId": "171000", + "upstreamId": "171000", "text": "Depressed nasal bridge" }, { - "baseId": "171004|404670|455456|455458|455557|456066|456283|456294|456302|493774|501577|560523|560668|584282|585186|585191|586446|586503|634783|634784|699477|790606|792758|831759|831760|831761|933255", + "upstreamId": "171004|404670|455456|455458|455557|456066|456283|456294|456302|493774|501577|560523|560668|584282|585186|585191|586446|586503|634783|634784|699477|790606|792758|831759|831760|831761|933255", "text": "Deafness, autosomal recessive 66" }, { - "baseId": "171038|205371|205372|800382|800383|800384", + "upstreamId": "171038|205371|205372|800382|800383|800384", "text": "Premature ovarian failure 10" }, { - "baseId": "171039|171040|171041|171042|171043|215675|215676|215677|215678|513493|679589", + "upstreamId": "171039|171040|171041|171042|171043|215675|215676|215677|215678|513493|679589", "text": "Spinocerebellar ataxia type 21" }, { - "baseId": "171057|171058|171061|172475|189194", + "upstreamId": "171057|171058|171061|172475|189194", "text": "Polymorphic ventricular tachycardia" }, { - "baseId": "171072|171183|209432", + "upstreamId": "171072|171183|209432", "text": "Aortic aneurysm" }, { - "baseId": "171075|415173|613502|614549|961028|962031", + "upstreamId": "171075|415173|613502|614549|961028|962031", "text": "Ehlers-Danlos syndrome" }, { - "baseId": "171109|171110|171111|171112|171113|172175", + "upstreamId": "171109|171110|171111|171112|171113|172175", "text": "Haemorrhagic telangiectasia 1" }, { - "baseId": "171120", + "upstreamId": "171120", "text": "Early repolarization associated with ventricular fibrillation" }, { - "baseId": "171152|171153|171154|171155", + "upstreamId": "171152|171153|171154|171155", "text": "Haemorrhagic telangiectasia 2" }, { - "baseId": "171166|287195|287915|320711|329513|329573|336164|336174|338040|353302", + "upstreamId": "171166|287195|287915|320711|329513|329573|336164|336174|338040|353302", "text": "Dystonia, dopa-responsive" }, { - "baseId": "171167", + "upstreamId": "171167", "text": "Hyperphenylalaninemia due to tetrahydrobiopterin deficiency" }, { - "baseId": "171175", + "upstreamId": "171175", "text": "Marfan syndrome, incomplete" }, { - "baseId": "171185", + "upstreamId": "171185", "text": "Altered myosin contractile function" }, { - "baseId": "171227|171235|208586|626272", + "upstreamId": "171227|171235|208586|626272", "text": "Myopathy, RYR1-associated" }, { - "baseId": "171229|171236", + "upstreamId": "171229|171236", "text": "Malignant hyperthermia and exertional rhabdomyolosis" }, { - "baseId": "171232", + "upstreamId": "171232", "text": "Malignant hyperthermia equivocal with halotane" }, { - "baseId": "171236|361886|410595", + "upstreamId": "171236|361886|410595", "text": "RYR1-Related Disorder" }, { - "baseId": "171238|171239", + "upstreamId": "171238|171239", "text": "Axial myopathy, late-onset" }, { - "baseId": "171240", + "upstreamId": "171240", "text": "Muscular dystrophy and arthrogryposis" }, { - "baseId": "171247", + "upstreamId": "171247", "text": "Exertional myalgia, muscle stiffness and myoglobinuria" }, { - "baseId": "171252|171253|171254|171255|227282|428365|438309|443730|538373|538374", + "upstreamId": "171252|171253|171254|171255|227282|428365|438309|443730|538373|538374", "text": "Mental retardation, autosomal recessive 46" }, { - "baseId": "171257", + "upstreamId": "171257", "text": "Polyendocrine-polyneuropathy syndrome" }, { - "baseId": "171266|171267|171268|171269", + "upstreamId": "171266|171267|171268|171269", "text": "cerebellar-facial-dental syndrome" }, { - "baseId": "171266|171267|171268|171269|677444|677445", + "upstreamId": "171266|171267|171268|171269|677444|677445", "text": "Cerebellofaciodental syndrome" }, { - "baseId": "171280|259816|414996|480762|480763|480764|480765|821907|918939|961274|961275|961605|964249|970801|972809", + "upstreamId": "171280|259816|414996|480762|480763|480764|480765|821907|918939|961274|961275|961605|964249|970801|972809", "text": "Epileptic encephalopathy, infantile or early childhood 2" }, { - "baseId": "171283|581245|581246|614541|918648", + "upstreamId": "171283|581245|581246|614541|918648", "text": "Cardiac conduction disease with or without dilated cardiomyopathy" }, { - "baseId": "171288|171289|181485|446936|446939|446981|446987|514865|514896|514926|556509|556512|626468|626469|626470|626471|626472|626473|626474|626475|626476|626477|745491|745492|818829|818830|822358|903498|921534|929889|929890|941322|941323|951980|960396", + "upstreamId": "171288|171289|181485|446936|446939|446981|446987|514865|514896|514926|556509|556512|626468|626469|626470|626471|626472|626473|626474|626475|626476|626477|745491|745492|818829|818830|822358|903498|921534|929889|929890|941322|941323|951980|960396", "text": "Immunodeficiency 38 with basal ganglia calcification" }, { - "baseId": "171705|171706|171707|204572|206797|243939|249882|249883|249884|249887|249888|249889|249890|249891|425368|425369|427800|427801|427804|427805|427809|427810|427811|447869|448028|448165|515840|515842|515848|515870|515877|515878|515880|515962|556531|557045|557047|557049|557262|557264|558495|558497|558499|614217|614218|627808|627809|627810|627811|627812|627813|627814|627815|627816|627817|627818|627819|627820|627821|627822|627823|650658|707388|707389|718949|730001|732417|732418|732419|746455|746456|746457|761898|761899|761900|800983|823927|823928|823929|823930|823931|823932|823933|823934|823935|823936|823937|823938|823939|823940|823941|823942|823943|823944|823945|918635|922005|922006|922007|922008|922009|930481|930482|941927|941928|941929|941930|941931|941932|941933|952400|952401|952402|952403|952404", + "upstreamId": "171705|171706|171707|204572|206797|243939|249882|249883|249884|249887|249888|249889|249890|249891|425368|425369|427800|427801|427804|427805|427809|427810|427811|447869|448028|448165|515840|515842|515848|515870|515877|515878|515880|515962|556531|557045|557047|557049|557262|557264|558495|558497|558499|614217|614218|627808|627809|627810|627811|627812|627813|627814|627815|627816|627817|627818|627819|627820|627821|627822|627823|650658|707388|707389|718949|730001|732417|732418|732419|746455|746456|746457|761898|761899|761900|800983|823927|823928|823929|823930|823931|823932|823933|823934|823935|823936|823937|823938|823939|823940|823941|823942|823943|823944|823945|918635|922005|922006|922007|922008|922009|930481|930482|941927|941928|941929|941930|941931|941932|941933|952400|952401|952402|952403|952404", "text": "Neutropenia, severe congenital, 7, autosomal recessive" }, { - "baseId": "171728|171729|171730|171731|171732", + "upstreamId": "171728|171729|171730|171731|171732", "text": "Paternal uniparental disomy of chromosome 14" }, { - "baseId": "171761|171762|359201|612617|622991|654719", + "upstreamId": "171761|171762|359201|612617|622991|654719", "text": "Stickler syndrome" }, { - "baseId": "171767|171768|171769|171770|211429|481146|682322", + "upstreamId": "171767|171768|171769|171770|211429|481146|682322", "text": "Perrault syndrome 5" }, { - "baseId": "171783|171784|171785", + "upstreamId": "171783|171784|171785", "text": "Mesoaxial synostotic syndactyly with phalangeal reduction" }, { - "baseId": "171796|171797|171798|171799|171800|260554|354262|368072|368366|966051", + "upstreamId": "171796|171797|171798|171799|171800|260554|354262|368072|368366|966051", "text": "Leukodystrophy, hypomyelinating, 9" }, { - "baseId": "171806|171807|171808|205009|215062|215063|367150|368164|578409|790320|790321|790322|790323|798518|798519|798520|903519|906376|918793", + "upstreamId": "171806|171807|171808|205009|215062|215063|367150|368164|578409|790320|790321|790322|790323|798518|798519|798520|903519|906376|918793", "text": "Dyskinesia, familial, with facial myokymia" }, { - "baseId": "171811|255744|255745|293417|294628|294630|294633|294634|294636|294637|294640|294641|294645|294649|294651|294655|294658|294660|294666|294667|296136|296144|296145|296153|296179|296195|296211|299848|299856|299859|299868|299878|299881|299888|299890|299903|299912|299913|299916|299919|299923|299924|299930|299932|299935|299943|299944|299952|299953|299956|299958|299959|299963|299964|299966|299973|299975|299976|299977|299978|325355|325357|325358|332363|335034|335036|335039|341491|341499|341504|342991|342992|342995|342996|342998|343001|343005|343006|353674|620776|691637|691638|892507|892508|892509|892510|892511|892512|892513|892514|892515|892516|892517|892518|892519|892520|892521|892522|892523|892524|892525|892526|892527|892528|892529|892530|892531|892532|892533|892534|892535|892536|896006|896007", + "upstreamId": "171811|255744|255745|293417|294628|294630|294633|294634|294636|294637|294640|294641|294645|294649|294651|294655|294658|294660|294666|294667|296136|296144|296145|296153|296179|296195|296211|299848|299856|299859|299868|299878|299881|299888|299890|299903|299912|299913|299916|299919|299923|299924|299930|299932|299935|299943|299944|299952|299953|299956|299958|299959|299963|299964|299966|299973|299975|299976|299977|299978|325355|325357|325358|332363|335034|335036|335039|341491|341499|341504|342991|342992|342995|342996|342998|343001|343005|343006|353674|620776|691637|691638|892507|892508|892509|892510|892511|892512|892513|892514|892515|892516|892517|892518|892519|892520|892521|892522|892523|892524|892525|892526|892527|892528|892529|892530|892531|892532|892533|892534|892535|892536|896006|896007", "text": "Parkinson Disease, Dominant" }, { - "baseId": "171848|171849|171850|171851", + "upstreamId": "171848|171849|171850|171851", "text": "Macular dystrophy, vitelliform, 4" }, { - "baseId": "171866|171867|171874", + "upstreamId": "171866|171867|171874", "text": "Absent or delayed speech development" }, { - "baseId": "171866|171867|243985|263200|263355|361071|679509|679510|679511|679512|679513", + "upstreamId": "171866|171867|243985|263200|263355|361071|679509|679510|679511|679512|679513", "text": "Feeding difficulties" }, { - "baseId": "171866|189154|263234|859391", + "upstreamId": "171866|189154|263234|859391", "text": "Generalized seizures" }, { - "baseId": "171894|172292|178417|178418|178847|260442|264380|353897|438896|481817|514570|539011|550362|550607|550608|579357|589839|608878|611467|615239|622391|626176|679827|790801|798598|798599|806379|816467|964302|964923|970881|972721|973102|976655|976656", + "upstreamId": "171894|172292|178417|178418|178847|260442|264380|353897|438896|481817|514570|539011|550362|550607|550608|579357|589839|608878|611467|615239|622391|626176|679827|790801|798598|798599|806379|816467|964302|964923|970881|972721|973102|976655|976656", "text": "Mental retardation, autosomal dominant 32" }, { - "baseId": "171907|171908", + "upstreamId": "171907|171908", "text": "Aortic aneurysm, familial thoracic 9" }, { - "baseId": "171911|171912|171913|171914|171915|171916|188238|188239|188240|188241|247600|247601|247602|247606", + "upstreamId": "171911|171912|171913|171914|171915|171916|188238|188239|188240|188241|247600|247601|247602|247606", "text": "Burn-McKeown syndrome" }, { - "baseId": "171920|171921|171922|724328|788848|961786", + "upstreamId": "171920|171921|171922|724328|788848|961786", "text": "Peroxisomal fatty acyl-coa reductase 1 disorder" }, { - "baseId": "171923|171924|171925|171926|171927|215293|361384|361385|425577|428210|428211|451561|452760|452763|452764|452765|452766|452768|452772|452782|452784|452786|453123|453128|453136|453139|453140|453141|453143|453145|453152|453162|453166|453169|453171|453180|453182|453184|453493|453494|453505|453507|453511|453516|453520|453522|453525|453538|453539|453547|453550|453552|453556|519592|519594|519595|519663|519863|519883|519884|519885|519889|519894|519898|519899|559185|559672|559674|559676|561803|561813|563302|563308|563311|563312|631780|631781|631782|631783|631784|631785|631786|631787|631788|631789|631790|631791|651130|679952|679953|686463|691481|691483|691484|698280|698282|734286|781800|828549|828550|828551|828552|828553|828554|828555|828556|828557|828558|828559|828560|828561|828562|828563|828564|828565|828566|923346|923347|923348|923349|923350|923351|923352|923353|932081|932082|932083|932084|932085|943699|943700|943701|943702|943703|953587|953588|953589|953590|953591", + "upstreamId": "171923|171924|171925|171926|171927|215293|361384|361385|425577|428210|428211|451561|452760|452763|452764|452765|452766|452768|452772|452782|452784|452786|453123|453128|453136|453139|453140|453141|453143|453145|453152|453162|453166|453169|453171|453180|453182|453184|453493|453494|453505|453507|453511|453516|453520|453522|453525|453538|453539|453547|453550|453552|453556|519592|519594|519595|519663|519863|519883|519884|519885|519889|519894|519898|519899|559185|559672|559674|559676|561803|561813|563302|563308|563311|563312|631780|631781|631782|631783|631784|631785|631786|631787|631788|631789|631790|631791|651130|679952|679953|686463|691481|691483|691484|698280|698282|734286|781800|828549|828550|828551|828552|828553|828554|828555|828556|828557|828558|828559|828560|828561|828562|828563|828564|828565|828566|923346|923347|923348|923349|923350|923351|923352|923353|932081|932082|932083|932084|932085|943699|943700|943701|943702|943703|953587|953588|953589|953590|953591", "text": "Nemaline myopathy 10" }, { - "baseId": "171928|171929|171930|188138|429367|980846", + "upstreamId": "171928|171929|171930|188138|429367|980846", "text": "Thrombocytopenia 5" }, { - "baseId": "172081|172082|172083|172085|201742|201746|201752|614274", + "upstreamId": "172081|172082|172083|172085|201742|201746|201752|614274", "text": "Macular dystrophy with central cone involvement" }, { - "baseId": "172087|172088|172089|172090|172091|172092|792721|972780", + "upstreamId": "172087|172088|172089|172090|172091|172092|792721|972780", "text": "Filippi syndrome" }, { - "baseId": "172094|172095|181391|921215|935743|980342", + "upstreamId": "172094|172095|181391|921215|935743|980342", "text": "Polycystic liver disease 4 with or without kidney cysts" }, { - "baseId": "172096", + "upstreamId": "172096", "text": "POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS" }, { - "baseId": "172097", + "upstreamId": "172097", "text": "Platelet-type bleeding disorder 19" }, { - "baseId": "172098|172099|172100|172101|172102|260112|364006|464840|465651|466371|466390|466396|466397|466401|466637|529923|529924|529931|530005|530010|530011|530432|530436|530441|570119|570129|574041|577544|613033|644605|644606|644607|644608|644609|644610|644611|644612|644613|652846|653017|653020|653263|703654|726607|726608|755138|755139|770872|791585|798698|798699|802012|843760|843761|843762|843763|843764|843765|843766|843767|843768|843769|852111|852656|852658|852819|920361|927782|927783|937416|949371|949372|949373|957735|957736|960154|960155|960156", + "upstreamId": "172098|172099|172100|172101|172102|260112|364006|464840|465651|466371|466390|466396|466397|466401|466637|529923|529924|529931|530005|530010|530011|530432|530436|530441|570119|570129|574041|577544|613033|644605|644606|644607|644608|644609|644610|644611|644612|644613|652846|653017|653020|653263|703654|726607|726608|755138|755139|770872|791585|798698|798699|802012|843760|843761|843762|843763|843764|843765|843766|843767|843768|843769|852111|852656|852658|852819|920361|927782|927783|937416|949371|949372|949373|957735|957736|960154|960155|960156", "text": "Generalized epilepsy with febrile seizures plus, type 9" }, { - "baseId": "172103|172104", + "upstreamId": "172103|172104", "text": "Microcephaly and chorioretinopathy, autosomal recessive, 2" }, { - "baseId": "172121", + "upstreamId": "172121", "text": "Leptin dysfunction" }, { - "baseId": "172130|172131|172132|172133|172134|172135|966395|966396|966397|966398", + "upstreamId": "172130|172131|172132|172133|172134|172135|966395|966396|966397|966398", "text": "Catel Manzke syndrome" }, { - "baseId": "172139|172140|172141|172142|172143|172144", + "upstreamId": "172139|172140|172141|172142|172143|172144", "text": "Aldosterone-producing adrenal cortex adenoma" }, { - "baseId": "172146|172147|172148|172149|172150|172151|172152|172153|172154|172155|172156|172157|172158|172159|172160|214763|214765|352059|438582|792122", + "upstreamId": "172146|172147|172148|172149|172150|172151|172152|172153|172154|172155|172156|172157|172158|172159|172160|214763|214765|352059|438582|792122", "text": "Deafness, X-linked 5" }, { - "baseId": "172164|792613", + "upstreamId": "172164|792613", "text": "Retinal dystrophy and obesity" }, { - "baseId": "172170", + "upstreamId": "172170", "text": "Lacrimal duct defect" }, { - "baseId": "172185|172186|172187|172188|172189|172190|172191|255889|466018|466721|466723|467002|467005|530361|530563|530778|570496|645006|652665|693934|820885|844360|927962|949589|949590", + "upstreamId": "172185|172186|172187|172188|172189|172190|172191|255889|466018|466721|466723|467002|467005|530361|530563|530778|570496|645006|652665|693934|820885|844360|927962|949589|949590", "text": "Ayme-gripp syndrome" }, { - "baseId": "172192|215431|441418|460935|460938|460939|460945|461027|461032|461034|461316|461321|461324|461328|461345|461346|461751|461752|481404|526007|526059|526065|526066|526067|526076|526077|526141|526143|526144|526150|526153|526506|526508|526512|526515|564515|564518|564523|564525|564527|565569|565572|565574|565577|567099|567100|567101|567113|567114|567116|570411|570413|570421|579718|639845|639846|639847|639848|639849|639850|639851|679776|712747|724341|724342|737904|752601|752603|768368|768369|768370|768373|802001|820345|838159|838160|838161|838162|838163|838164|838165|838166|838167|838168|838169|838170|838171|838172|838173|917083|919344|919345|919346|919347|926164|926165|926166|935449|935450|935451|935452|935453|947377|947378|947379|947380|970931", + "upstreamId": "172192|215431|441418|460935|460938|460939|460945|461027|461032|461034|461316|461321|461324|461328|461345|461346|461751|461752|481404|526007|526059|526065|526066|526067|526076|526077|526141|526143|526144|526150|526153|526506|526508|526512|526515|564515|564518|564523|564525|564527|565569|565572|565574|565577|567099|567100|567101|567113|567114|567116|570411|570413|570421|579718|639845|639846|639847|639848|639849|639850|639851|679776|712747|724341|724342|737904|752601|752603|768368|768369|768370|768373|802001|820345|838159|838160|838161|838162|838163|838164|838165|838166|838167|838168|838169|838170|838171|838172|838173|917083|919344|919345|919346|919347|926164|926165|926166|935449|935450|935451|935452|935453|947377|947378|947379|947380|970931", "text": "Epilepsy, progressive myoclonic 7" }, { - "baseId": "172193|172193|172194|172195|172196|263996|578375|676935", + "upstreamId": "172193|172193|172194|172195|172196|263996|578375|676935", "text": "Temple-Baraitser syndrome" }, { - "baseId": "172193|172193|181517|181518|181519|181520|181521|181522|263996|578375|918595|918596", + "upstreamId": "172193|172193|181517|181518|181519|181520|181521|181522|263996|578375|918595|918596", "text": "Zimmermann-Laband syndrome 1" }, { - "baseId": "172283|172284|421230|626105|679039", + "upstreamId": "172283|172284|421230|626105|679039", "text": "Mental retardation, autosomal recessive 47" }, { - "baseId": "172292|178380|178847|328813|328823|328826|328846|328848|328852|328853|328862|328871|328876|328886|328887|328892|328893|338815|338817|338819|338821|338828|338833|338843|338846|338852|338857|338860|338861|338864|338872|338877|338883|338885|338887|338915|338918|344859|344868|344882|344884|344898|344906|344907|344927|344930|346223|346226|346251|346252|346253|346256|346265|346267|346272|353443|353444|420148|424651|622210|858617|965287|965292", + "upstreamId": "172292|178380|178847|328813|328823|328826|328846|328848|328852|328853|328862|328871|328876|328886|328887|328892|328893|338815|338817|338819|338821|338828|338833|338843|338846|338852|338857|338860|338861|338864|338872|338877|338883|338885|338887|338915|338918|344859|344868|344882|344884|344898|344906|344907|344927|344930|346223|346226|346251|346252|346253|346256|346265|346267|346272|353443|353444|420148|424651|622210|858617|965287|965292", "text": "Syndromic intellectual disability" }, { - "baseId": "172295", + "upstreamId": "172295", "text": "Gillessen-Kaesbach-Nishimura dysplasia" }, { - "baseId": "172305", + "upstreamId": "172305", "text": "Chronic atrial and intestinal dysrhythmia" }, { - "baseId": "172315|172315|172316|172317|172317|172318|172319|366990|366994|368248|500572|518913|519128|538972|562485|562493|630982|630983|630984|654315|827613|827614|918806|931798|943367|953362", + "upstreamId": "172315|172315|172316|172317|172317|172318|172319|366990|366994|368248|500572|518913|519128|538972|562485|562493|630982|630983|630984|654315|827613|827614|918806|931798|943367|953362", "text": "Polyglucosan body myopathy 2" }, { - "baseId": "172322|172323|221321|518637|677995", + "upstreamId": "172322|172323|221321|518637|677995", "text": "Congenital heart defects, hamartomas of tongue, and polysyndactyly" }, { - "baseId": "172323|209332|677995|906242|906289", + "upstreamId": "172323|209332|677995|906242|906289", "text": "Orofaciodigital syndrome" }, { - "baseId": "172604|228525", + "upstreamId": "172604|228525", "text": "Autosomal dominant hypohidrotic ectodermal dysplasia" }, { - "baseId": "172928", + "upstreamId": "172928", "text": "ACTN2-related disorders" }, { - "baseId": "174350", + "upstreamId": "174350", "text": "EYA4-Related Disorders" }, { - "baseId": "174363", + "upstreamId": "174363", "text": "COL11A2- Related Disorder" }, { - "baseId": "174394|174395|174533|174534|304873|308593|308600|308601|313748|313768|313769|313803|313804|313861|313869|313878|353833", + "upstreamId": "174394|174395|174533|174534|304873|308593|308600|308601|313748|313768|313769|313803|313804|313861|313869|313878|353833", "text": "Pulmonary Surfactant Metabolism Dysfunction, Dominant" }, { - "baseId": "174394|174395|174533|174534|191720|290057|290068|290121|290793|290900|294466|294471|294510|294514|294538|308600|308601|313748|313803|313804|313806|313869|313871|313878|317967|317979|327468|327473|328093|328424|329345|329393|332645|332647|332648|337343|338383|340987|343611|344449|345113|345864|345866|353323|353324|353833|365080|365083|365084|365092|365094|365167|365174|365182|365254|365272|414799|421243|433772|447899|447903|447904|447911|448057|448071|448116|448118|448227|488684|515872|515927|515997|619999|620000|627850|864414|864415|864416|864417|864419|864421|864422|864424|864425|864427|864430|864431|864433|864434|864435|864436|865180|865181|865182|865183|865184", + "upstreamId": "174394|174395|174533|174534|191720|290057|290068|290121|290793|290900|294466|294471|294510|294514|294538|308600|308601|313748|313803|313804|313806|313869|313871|313878|317967|317979|327468|327473|328093|328424|329345|329393|332645|332647|332648|337343|338383|340987|343611|344449|345113|345864|345866|353323|353324|353833|365080|365083|365084|365092|365094|365167|365174|365182|365254|365272|414799|421243|433772|447899|447903|447904|447911|448057|448071|448116|448118|448227|488684|515872|515927|515997|619999|620000|627850|864414|864415|864416|864417|864419|864421|864422|864424|864425|864427|864430|864431|864433|864434|864435|864436|865180|865181|865182|865183|865184", "text": "Osteogenesis Imperfecta, Recessive" }, { - "baseId": "175345|528518", + "upstreamId": "175345|528518", "text": "Malignant germ cell tumor of ovary" }, { - "baseId": "175405|258727", + "upstreamId": "175405|258727", "text": "ABCC9-Related Disorders" }, { - "baseId": "175458|360837|360838|362134", + "upstreamId": "175458|360837|360838|362134", "text": "Dyspnea" }, { - "baseId": "175969|237629", + "upstreamId": "175969|237629", "text": "Deafness, autosomal dominant 16" }, { - "baseId": "176408", + "upstreamId": "176408", "text": "Vitelliform macular dystrophy 1" }, { - "baseId": "176639", + "upstreamId": "176639", "text": "USH1G-Related Disorders" }, { - "baseId": "176733|344674|349635|349640|349645|349648|349657|349678|350651|350661|350674|350678|353581|514276|612109", + "upstreamId": "176733|344674|349635|349640|349645|349648|349657|349678|350651|350661|350674|350678|353581|514276|612109", "text": "Arteriohepatic dysplasia" }, { - "baseId": "176758", + "upstreamId": "176758", "text": "Childhood ganglioglioma" }, { - "baseId": "176785|513989", + "upstreamId": "176785|513989", "text": "Dural ectasia" }, { - "baseId": "176785|513903|513989", + "upstreamId": "176785|513903|513989", "text": "Venous malformation" }, { - "baseId": "176785|513989", + "upstreamId": "176785|513989", "text": "Abnormality of digit" }, { - "baseId": "176924|178142|181536|275973|275974|275979|275984|275985|275990|275992|275993|276005|276006|276011|276018|276019|276020|276023|276024|276030|276031|276037|276052|276053|276186|276189|276198|276199|276201|276202|276204|276205|276221|276222|276230|276231|276234|276235|276236|276244|276246|276247|276248|276251|276252|276256|276257|276261|276262|276263|276316|276323|276331|276335|276336|276337|276339|276364|276379|276383|276384|276385|276388|276393|276394|276395|276396|276397|276398|276406|276408|276409|276410|276434|276435|276437|276446|276447|276450|276453|276454|276457|276458|276460|276461|276462|276463|276478|276479|276480|276483|276489|276491|276492|276493|276494|276503|276508|276517|276525|276526|276527|276533|276537|276549|276563|276564|438861|439303|696006|706602|718118|731600|731602|862015|862016|862017|862018|862019|862020|862021|862022|862023|862024|862025|862026|862027|862028|862029|862030|862031|862032|862033|862034|862035|862036|862037|862038|862039|862040|862041|862042|862043|862044|862045|862046|862047|862048|862049|862050|862051|862052|862053|862054|862055|862056|862057|862058|862059|862060|862061|862062|862063|862064|862065|862066|862067|862068|862069|862070|862071|862072|862073|862074|862075|862076|862077", + "upstreamId": "176924|178142|181536|275973|275974|275979|275984|275985|275990|275992|275993|276005|276006|276011|276018|276019|276020|276023|276024|276030|276031|276037|276052|276053|276186|276189|276198|276199|276201|276202|276204|276205|276221|276222|276230|276231|276234|276235|276236|276244|276246|276247|276248|276251|276252|276256|276257|276261|276262|276263|276316|276323|276331|276335|276336|276337|276339|276364|276379|276383|276384|276385|276388|276393|276394|276395|276396|276397|276398|276406|276408|276409|276410|276434|276435|276437|276446|276447|276450|276453|276454|276457|276458|276460|276461|276462|276463|276478|276479|276480|276483|276489|276491|276492|276493|276494|276503|276508|276517|276525|276526|276527|276533|276537|276549|276563|276564|438861|439303|696006|706602|718118|731600|731602|862015|862016|862017|862018|862019|862020|862021|862022|862023|862024|862025|862026|862027|862028|862029|862030|862031|862032|862033|862034|862035|862036|862037|862038|862039|862040|862041|862042|862043|862044|862045|862046|862047|862048|862049|862050|862051|862052|862053|862054|862055|862056|862057|862058|862059|862060|862061|862062|862063|862064|862065|862066|862067|862068|862069|862070|862071|862072|862073|862074|862075|862076|862077", "text": "Caudal regression sequence" }, { - "baseId": "176988", + "upstreamId": "176988", "text": "Inflammatory bowel disease 13" }, { - "baseId": "176988|227763", + "upstreamId": "176988|227763", "text": "ondansetron response - Efficacy" }, { - "baseId": "176988|227752|538603", + "upstreamId": "176988|227752|538603", "text": "simvastatin response - Efficacy" }, { - "baseId": "177220|181445|354301|360916|361783|361784|361786|361787|361788|375817|442819|514150|514159|514160|537303|556459|800989|961430|961431|961432|961433|961434|961435", + "upstreamId": "177220|181445|354301|360916|361783|361784|361786|361787|361788|375817|442819|514150|514159|514160|537303|556459|800989|961430|961431|961432|961433|961434|961435", "text": "Optic atrophy" }, { - "baseId": "177240|186055", + "upstreamId": "177240|186055", "text": "Abnormality of the intrahepatic bile duct" }, { - "baseId": "177312", + "upstreamId": "177312", "text": "X-linked intellectual disability" }, { - "baseId": "177428", + "upstreamId": "177428", "text": "Guanidinoacetate methyltransferase (GAMT) deficiency" }, { - "baseId": "177497|276791|276848|276849|276850|277130|277705|277709|277816|349939|349942|654885|967146", + "upstreamId": "177497|276791|276848|276849|276850|277130|277705|277709|277816|349939|349942|654885|967146", "text": "Alternating hemiplegia of childhood" }, { - "baseId": "177728|205682|205683|205684|209003|404852|424905|430767|538287|611447|964596|976682|976683|976684", + "upstreamId": "177728|205682|205683|205684|209003|404852|424905|430767|538287|611447|964596|976682|976683|976684", "text": "Autism, susceptibility to, X-linked 4" }, { - "baseId": "177897", + "upstreamId": "177897", "text": "Ocular impairment" }, { - "baseId": "177923|289467|289492|292684|292690|295405|299220|353650", + "upstreamId": "177923|289467|289492|292684|292690|295405|299220|353650", "text": "Congenital Stationary Night Blindness, Dominant" }, { - "baseId": "177947|181382|193745|195045|251311|267620|292026|292033|293465|296770|296774|296776|296778|296779|296782|296783|296786|550314|889930|889931|889932|889933|889934|889935|889936|889937|889938|889939|889940|889941|889942|889943|889944|889945|889946|889947|889948|889949|889950|889951|889952|889953|889954|889955|889956|889957|889958|889959|889960|889961|889962|889963|889964|889965|889966|889967|889968|889969|889970|891736|891737", + "upstreamId": "177947|181382|193745|195045|251311|267620|292026|292033|293465|296770|296774|296776|296778|296779|296782|296783|296786|550314|889930|889931|889932|889933|889934|889935|889936|889937|889938|889939|889940|889941|889942|889943|889944|889945|889946|889947|889948|889949|889950|889951|889952|889953|889954|889955|889956|889957|889958|889959|889960|889961|889962|889963|889964|889965|889966|889967|889968|889969|889970|891736|891737", "text": "Hypoplasia of the iris" }, { - "baseId": "177947|181382|251311|267620|292032|296770|296771|296782|296786|359074|459553|459568|459812|492837|564449|628138|628139|628140|628142|638655", + "upstreamId": "177947|181382|251311|267620|292032|296770|296771|296782|296786|359074|459553|459568|459812|492837|564449|628138|628139|628140|628142|638655", "text": "Anterior segment dysgenesis 1" }, { - "baseId": "177947|181382|193745|195045|251311|267620|292026|292032|292033|293465|296770|296771|296774|296776|296778|296779|296782|296783|296786|550314|889930|889931|889932|889933|889934|889935|889936|889937|889938|889939|889940|889941|889942|889943|889944|889945|889946|889947|889948|889949|889950|889951|889952|889953|889954|889955|889956|889957|889958|889959|889960|889961|889962|889963|889964|889965|889966|889967|889968|889969|889970|891736|891737", + "upstreamId": "177947|181382|193745|195045|251311|267620|292026|292032|292033|293465|296770|296771|296774|296776|296778|296779|296782|296783|296786|550314|889930|889931|889932|889933|889934|889935|889936|889937|889938|889939|889940|889941|889942|889943|889944|889945|889946|889947|889948|889949|889950|889951|889952|889953|889954|889955|889956|889957|889958|889959|889960|889961|889962|889963|889964|889965|889966|889967|889968|889969|889970|891736|891737", "text": "PITX2-Related Eye Abnormalities" }, { - "baseId": "178047", + "upstreamId": "178047", "text": "Autosomal dominant SCN1A-related disorder" }, { - "baseId": "178055|178058|191370|273736|282565|282582|282594|283206|283227|283258|283259|283267|283293|283322|284810|284837|285292|285305|285321|285329|285355|285356|285364|285367", + "upstreamId": "178055|178058|191370|273736|282565|282582|282594|283206|283227|283258|283259|283267|283293|283322|284810|284837|285292|285305|285321|285329|285355|285356|285364|285367", "text": "Congenital Indifference to Pain" }, { - "baseId": "178058|191370|273736|282565|282594|283206|283227|283258|283267|283293|283322|284810|285355|285356", + "upstreamId": "178058|191370|273736|282565|282594|283206|283227|283258|283267|283293|283322|284810|285355|285356", "text": "Familial febrile seizures" }, { - "baseId": "178171|190059", + "upstreamId": "178171|190059", "text": "Pituitary adenoma, growth hormone-secreting, 2" }, { - "baseId": "178312|178313|178314|178315|244005|418553|481391|788772|918521", + "upstreamId": "178312|178313|178314|178315|244005|418553|481391|788772|918521", "text": "Spinocerebellar ataxia, autosomal recessive 18" }, { - "baseId": "178326|918670", + "upstreamId": "178326|918670", "text": "Hypogonadotropic hypogonadism 15 with or without anosmia" }, { - "baseId": "178365|178366|178367|178369|178370", + "upstreamId": "178365|178366|178367|178369|178370", "text": "Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia" }, { - "baseId": "178368", + "upstreamId": "178368", "text": "Amyotrophic lateral sclerosis 22 with frontotemporal dementia" }, { - "baseId": "178380|178381", + "upstreamId": "178380|178381", "text": "Alazami-Yuan syndrome" }, { - "baseId": "178407|178408|200688|200688|200689|200689|378642|469914|469920|469926|469931|469933|470842|470915|471374|471379|471382|471799|508104|534074|534081|534085|534165|534606|571718|573279|573283|573287|573956|573958|573964|649209|649210|649211|649212|649213|649214|649215|649216|653271|653686|694692|705821|776953|786560|821403|849084|849085|849086|849087|849088|929410|939211|939212|939213|960960", + "upstreamId": "178407|178408|200688|200688|200689|200689|378642|469914|469920|469926|469931|469933|470842|470915|471374|471379|471382|471799|508104|534074|534081|534085|534165|534606|571718|573279|573283|573287|573956|573958|573964|649209|649210|649211|649212|649213|649214|649215|649216|653271|653686|694692|705821|776953|786560|821403|849084|849085|849086|849087|849088|929410|939211|939212|939213|960960", "text": "Spinal muscular atrophy, jokela type" }, { - "baseId": "178411|190570|202181|203766|211086|215118|225802|225802|225802|225802|263190|263260|263262|263282|263307|263324|263325|263326|263327|263328|263330|263331|263357|263375|263388|361081|430979|514017|514162|514320|514321|514322|514323|514325|514326|514328|514329|514330|514331|514333|514334|514335|514336|539432|550127|576328|581716|590061|619844|626018|626019|802091|805066|822302|921237|921238|921239|921241|921242|921243|921253|921255|921257|921258|921259|921448|965493|965570|965574|965578|966049|971452|971454|976699|980514|980662|980684|980687|980698", + "upstreamId": "178411|190570|202181|203766|211086|215118|225802|225802|225802|225802|263190|263260|263262|263282|263307|263324|263325|263326|263327|263328|263330|263331|263357|263375|263388|361081|430979|514017|514162|514320|514321|514322|514323|514325|514326|514328|514329|514330|514331|514333|514334|514335|514336|539432|550127|576328|581716|590061|619844|626018|626019|802091|805066|822302|921237|921238|921239|921241|921242|921243|921253|921255|921257|921258|921259|921448|965493|965570|965574|965578|966049|971452|971454|976699|980514|980662|980684|980687|980698", "text": "Autistic behavior" }, { - "baseId": "178412|178416|362591|362592|362593|362594|431934|861144|970520", + "upstreamId": "178412|178416|362591|362592|362593|362594|431934|861144|970520", "text": "Dysmorphic features" }, { - "baseId": "178413", + "upstreamId": "178413", "text": "generalized epilepsy with atypical absence seizures" }, { - "baseId": "178413|178414|178415", + "upstreamId": "178413|178414|178415", "text": "tremors" }, { - "baseId": "178414", + "upstreamId": "178414", "text": "generalized epilepsy with atypical absence and tonic/myoclonic seizures" }, { - "baseId": "178417|178418|816467|963652|963653|963655", + "upstreamId": "178417|178418|816467|963652|963653|963655", "text": "KAT6A syndrome" }, { - "baseId": "178441|178493|178598|178708|178758|224301", + "upstreamId": "178441|178493|178598|178708|178758|224301", "text": "Arterial dissection" }, { - "baseId": "178449|178483", + "upstreamId": "178449|178483", "text": "Diastolic dysfunction" }, { - "baseId": "178505", + "upstreamId": "178505", "text": "Familial abdominal aortic aneurysm 1" }, { - "baseId": "178532", + "upstreamId": "178532", "text": "Channelopathy" }, { - "baseId": "178551", + "upstreamId": "178551", "text": "Subvalvular aortic stenosis" }, { - "baseId": "178663", + "upstreamId": "178663", "text": "AV Block Third Degree Adverse Event" }, { - "baseId": "178708", + "upstreamId": "178708", "text": "Cutaneous polyarteritis nodosa" }, { - "baseId": "178762", + "upstreamId": "178762", "text": "Trifascicular block on electrocardiogram" }, { - "baseId": "178768", + "upstreamId": "178768", "text": "Fatal infantile mitochondrial cardiomyopathy" }, { - "baseId": "178780|178781|178782|178783|178784|178785|481393|481394|481395|481396|681812|681813|788923|919840|919841|961346", + "upstreamId": "178780|178781|178782|178783|178784|178785|481393|481394|481395|481396|681812|681813|788923|919840|919841|961346", "text": "Combined oxidative phosphorylation deficiency 23" }, { - "baseId": "178798|178799|178800|178801|178802|178803", + "upstreamId": "178798|178799|178800|178801|178802|178803", "text": "Lissencephaly 6, with microcephaly" }, { - "baseId": "178813|638465|918014|962617|966641|966642|966643|966644|966645|966646|966647|966648|966649|966650|966651|966652|966653|966654|966655|966656|966657|966660|966661|966662|966663|983679", + "upstreamId": "178813|638465|918014|962617|966641|966642|966643|966644|966645|966646|966647|966648|966649|966650|966651|966652|966653|966654|966655|966656|966657|966660|966661|966662|966663|983679", "text": "Pituitary stalk interruption syndrome" }, { - "baseId": "178823|178824|178825|178826|538488|788932|802227|802228|816006|816007|919896|919897|920413", + "upstreamId": "178823|178824|178825|178826|538488|788932|802227|802228|816006|816007|919896|919897|920413", "text": "CODAS syndrome" }, { - "baseId": "178827|178828|178829|178830|188289|216922|216923|377022|429761|429762|429763|429764|429765|429766|429767|429768|429769|429771|465728|465921|465924|529468|529789|529789|530043|530047|567680|569539|569975|569989|573715|619853|643922|643923|643924|643925|643926|643927|643928|643929|643930|643931|643932|643933|643934|643935|652689|653219|714737|714738|714739|714740|726435|726436|739961|739962|744886|754902|754908|754912|760259|779752|791523|791524|791524|818786|820766|843113|843114|843115|843116|843117|843118|843119|843120|843121|843122|843123|843124|852625|927565|927566|927567|927568|937221|937222|937223|937224|937225|937226|941111|941112|949168|949169|949170|949171|949172|949173|949174|949175|957628|960132|960133|961622", + "upstreamId": "178827|178828|178829|178830|188289|216922|216923|377022|429761|429762|429763|429764|429765|429766|429767|429768|429769|429771|465728|465921|465924|529468|529789|529789|530043|530047|567680|569539|569975|569989|573715|619853|643922|643923|643924|643925|643926|643927|643928|643929|643930|643931|643932|643933|643934|643935|652689|653219|714737|714738|714739|714740|726435|726436|739961|739962|744886|754902|754908|754912|760259|779752|791523|791524|791524|818786|820766|843113|843114|843115|843116|843117|843118|843119|843120|843121|843122|843123|843124|852625|927565|927566|927567|927568|937221|937222|937223|937224|937225|937226|941111|941112|949168|949169|949170|949171|949172|949173|949174|949175|957628|960132|960133|961622", "text": "Dyskeratosis congenita, autosomal recessive 6" }, { - "baseId": "178841|802251|802252|802253|802254|802255|980948", + "upstreamId": "178841|802251|802252|802253|802254|802255|980948", "text": "Juvenile arthritis due to defect in LACC1" }, { - "baseId": "178848|178849|178850|178851", + "upstreamId": "178848|178849|178850|178851", "text": "Amelogenesis imperfecta, type IH" }, { - "baseId": "178852|178853|178854|513568|792758|906246", + "upstreamId": "178852|178853|178854|513568|792758|906246", "text": "Nephronophthisis 19" }, { - "baseId": "178852|178853|404667|404668|404669|404670|404670|455456|455458|455557|456066|456283|456294|456302|493774|501577|560523|560668|584282|585186|585191|586446|586503|634783|634784|699477|792758|831759|831760|831761|933255|961848", + "upstreamId": "178852|178853|404667|404668|404669|404670|404670|455456|455458|455557|456066|456283|456294|456302|493774|501577|560523|560668|584282|585186|585191|586446|586503|634783|634784|699477|792758|831759|831760|831761|933255|961848", "text": "Sclerosing cholangitis, neonatal" }, { - "baseId": "178855|178856|178857", + "upstreamId": "178855|178856|178857", "text": "Fibrosis of extraocular muscles, congenital, 5" }, { - "baseId": "178858", + "upstreamId": "178858", "text": "Premature coronary artery disease" }, { - "baseId": "178864|178865|178866|178867|178868|513074|513075|513076|818261|818262|818263|962721|962722", + "upstreamId": "178864|178865|178866|178867|178868|513074|513075|513076|818261|818262|818263|962721|962722", "text": "Focal segmental glomerulosclerosis 9" }, { - "baseId": "178869|178871|178872|536756", + "upstreamId": "178869|178871|178872|536756", "text": "Ventriculomegaly with cystic kidney disease" }, { - "baseId": "178886|178887|178888|178889", + "upstreamId": "178886|178887|178888|178889", "text": "Cataplexy and narcolepsy" }, { - "baseId": "178906|205536", + "upstreamId": "178906|205536", "text": "Cavitary optic disc anomalies" }, { - "baseId": "180112|682317", + "upstreamId": "180112|682317", "text": "Cerebellar hemangioblastoma" }, { - "baseId": "180112", + "upstreamId": "180112", "text": "Spinal hemangioblastoma" }, { - "baseId": "180112", + "upstreamId": "180112", "text": "Retinal capillary hemangioma" }, { - "baseId": "180112|360844|360988|514057", + "upstreamId": "180112|360844|360988|514057", "text": "Pancreatic cysts" }, { - "baseId": "181116", + "upstreamId": "181116", "text": "Congenital heart defects, multiple types, 3" }, { - "baseId": "181165|181166|271566|363718|365258|365262|365560|448378|448387|448399|448456|448459|516094|516095|516133|516135|628286|628287|628288|650765|650776|690680|696917|824547|824548|824549|824550|918666|930709|930710|942146|942147|942148", + "upstreamId": "181165|181166|271566|363718|365258|365262|365560|448378|448387|448399|448456|448459|516094|516095|516133|516135|628286|628287|628288|650765|650776|690680|696917|824547|824548|824549|824550|918666|930709|930710|942146|942147|942148", "text": "Myasthenic syndrome, congenital, 15" }, { - "baseId": "181172|513496|538330|967251", + "upstreamId": "181172|513496|538330|967251", "text": "Myopathy, vacuolar, with casq1 aggregates" }, { - "baseId": "181222|434816|921468", + "upstreamId": "181222|434816|921468", "text": "Early-onset coronary artery disease" }, { - "baseId": "181284|181285|425378|621000|621001|621002|621004|970694|970695", + "upstreamId": "181284|181285|425378|621000|621001|621002|621004|970694|970695", "text": "Developmental and epileptic encephalopathy, 75" }, { - "baseId": "181286|181287|372457|408483|408484|434641|535321|621005|621006|621007|621011|621012|621014|791182|861035|959510", + "upstreamId": "181286|181287|372457|408483|408484|434641|535321|621005|621006|621007|621011|621012|621014|791182|861035|959510", "text": "Combined oxidative phosphorylation deficiency 24" }, { - "baseId": "181294", + "upstreamId": "181294", "text": "decreased blood alpha-hydroxyisovalerate levels" }, { - "baseId": "181308|791385", + "upstreamId": "181308|791385", "text": "Lethal congenital contracture syndrome 6" }, { - "baseId": "181374|181375|181376|181377|181378|250390|250391|250392|250393|250394|250395|448961|448965|448980|448985|449150|449156|449246|449248|449250|449251|449253|449254|449278|449281|516726|516727|516728|516820|516821|516824|557692|558909|559392|628981|628982|628983|628984|628985|628986|628987|683134|683135|690890|697156|762416|819081|825201|825202|825203|825204|825205|825206|825207|922406|922407|922408|922409|930973|930974|930975|942402|942403|942404|942405|942406|952785", + "upstreamId": "181374|181375|181376|181377|181378|250390|250391|250392|250393|250394|250395|448961|448965|448980|448985|449150|449156|449246|449248|449250|449251|449253|449254|449278|449281|516726|516727|516728|516820|516821|516824|557692|558909|559392|628981|628982|628983|628984|628985|628986|628987|683134|683135|690890|697156|762416|819081|825201|825202|825203|825204|825205|825206|825207|922406|922407|922408|922409|930973|930974|930975|942402|942403|942404|942405|942406|952785", "text": "Nemaline myopathy 9" }, { - "baseId": "181397", + "upstreamId": "181397", "text": "Brain malformation" }, { - "baseId": "181398|244080|244081", + "upstreamId": "181398|244080|244081", "text": "Pontocerebellar hypoplasia, type 2f" }, { - "baseId": "181401|226233|511244|970679|970680", + "upstreamId": "181401|226233|511244|970679|970680", "text": "Epileptic encephalopathy, early infantile, 38" }, { - "baseId": "181402|452274|918571", + "upstreamId": "181402|452274|918571", "text": "Hemiparesis" }, { - "baseId": "181402|181451|181452|181464|362521|444411|578517|578518|621026|621038", + "upstreamId": "181402|181451|181452|181464|362521|444411|578517|578518|621026|621038", "text": "Hydrocephalus" }, { - "baseId": "181406", + "upstreamId": "181406", "text": "Regression of motor development with severe dystonia and corresponding basal ganglia lesions" }, { - "baseId": "181407|198685|360828", + "upstreamId": "181407|198685|360828", "text": "Waddling gait" }, { - "baseId": "181407", + "upstreamId": "181407", "text": "Marked Hypotonia" }, { - "baseId": "181408", + "upstreamId": "181408", "text": "Classical primary microcephaly" }, { - "baseId": "181409|181423|181424|181440|181448|243981|243987|360942|361073|361074|361075|361076|624127|624128|624129|624130|624131|624132|624133|624134|624135|624136|624137|624138", + "upstreamId": "181409|181423|181424|181440|181448|243981|243987|360942|361073|361074|361075|361076|624127|624128|624129|624130|624131|624132|624133|624134|624135|624136|624137|624138", "text": "Brain atrophy" }, { - "baseId": "181409|624131|624133|624134|624137|624138|708891|904111|904112|904113|904114|904115", + "upstreamId": "181409|624131|624133|624134|624137|624138|708891|904111|904112|904113|904114|904115", "text": "Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity" }, { - "baseId": "181410|227149|227150|227151|227152|227153|227154|227155|359599|425213|575514|578425|624065|626141|626380|626386|790428|792740|798540|798541|799338|903530|904199|920199|963132|964731|965658|965887|965888|966170|972783", + "upstreamId": "181410|227149|227150|227151|227152|227153|227154|227155|359599|425213|575514|578425|624065|626141|626380|626386|790428|792740|798540|798541|799338|903530|904199|920199|963132|964731|965658|965887|965888|966170|972783", "text": "Hypotonia, infantile, with psychomotor retardation and characteristic facies 3" }, { - "baseId": "181412|480596|480597|480598|480599|480600|513542|788770|792744|918154|918875|918876|970533|970534", + "upstreamId": "181412|480596|480597|480598|480599|480600|513542|788770|792744|918154|918875|918876|970533|970534", "text": "Alkuraya-Kucinskas syndrome" }, { - "baseId": "181415|181418|247328|247329|247330|247331|247332|263257|263275|263348|263353|263355|263380|361695|361696|406053|514128|535693|581713|801072|857396|966614|966618|969329", + "upstreamId": "181415|181418|247328|247329|247330|247331|247332|263257|263275|263348|263353|263355|263380|361695|361696|406053|514128|535693|581713|801072|857396|966614|966618|969329", "text": "Failure to thrive" }, { - "baseId": "181416", + "upstreamId": "181416", "text": "Cerebral ischemia" }, { - "baseId": "181419", + "upstreamId": "181419", "text": "Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy" }, { - "baseId": "181420", + "upstreamId": "181420", "text": "Severe primary microcephaly" }, { - "baseId": "181423|243981|243987|263279|362134|514032|789341|789342|789343|805096", + "upstreamId": "181423|243981|243987|263279|362134|514032|789341|789342|789343|805096", "text": "Hypoplasia of the corpus callosum" }, { - "baseId": "181423|514159|514160", + "upstreamId": "181423|514159|514160", "text": "CNS hypomyelination" }, { - "baseId": "181424|181445|201836|259817", + "upstreamId": "181424|181445|201836|259817", "text": "Intractable seizure" }, { - "baseId": "181426|181450", + "upstreamId": "181426|181450", "text": "Severe brain malformation" }, { - "baseId": "181430", + "upstreamId": "181430", "text": "Severe microlissencephaly" }, { - "baseId": "181430|613456|613457", + "upstreamId": "181430|613456|613457", "text": "Exaggerated startle response" }, { - "baseId": "181432|237126|408431|408432|408433|408434|408437|408439|415294|461386|461397|461398|461901|461909|462240|503719|503722|526447|526721|526955|526960|526965|564854|564857|564859|566094|567473|567476|570890|570891|570896|640359|640360|640361|640362|693093|693094|838805|838806|838807|926353|926354|935706|956598|956599", + "upstreamId": "181432|237126|408431|408432|408433|408434|408437|408439|415294|461386|461397|461398|461901|461909|462240|503719|503722|526447|526721|526955|526960|526965|564854|564857|564859|566094|567473|567476|570890|570891|570896|640359|640360|640361|640362|693093|693094|838805|838806|838807|926353|926354|935706|956598|956599", "text": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 13" }, { - "baseId": "181434|583169|583170|919433|965222|965223", + "upstreamId": "181434|583169|583170|919433|965222|965223", "text": "Mental retardation, autosomal recessive 66" }, { - "baseId": "181435", + "upstreamId": "181435", "text": "Early onset focal segmental glomerulosclerosis" }, { - "baseId": "181435", + "upstreamId": "181435", "text": "Light complexion" }, { - "baseId": "181435|611342", + "upstreamId": "181435|611342", "text": "Galloway-Mowat syndrome 7" }, { - "baseId": "181437", + "upstreamId": "181437", "text": "Hypohidrosis" }, { - "baseId": "181437", + "upstreamId": "181437", "text": "COG6-related disorder" }, { - "baseId": "181438|904214", + "upstreamId": "181438|904214", "text": "Mild obesity" }, { - "baseId": "181438|514187|514192|514215|553301|904214", + "upstreamId": "181438|514187|514192|514215|553301|904214", "text": "Dolichocephaly" }, { - "baseId": "181441|514262|536033|626232", + "upstreamId": "181441|514262|536033|626232", "text": "Multiple mitochondrial dysfunctions syndrome 4" }, { - "baseId": "181441|287096|290249|362182", + "upstreamId": "181441|287096|290249|362182", "text": "Multiple mitochondrial dysfunctions syndrome" }, { - "baseId": "181444", + "upstreamId": "181444", "text": "Autistic spectrum disorder with isolated skills" }, { - "baseId": "181447", + "upstreamId": "181447", "text": "Iron deposition in globus pallidus" }, { - "baseId": "181450", + "upstreamId": "181450", "text": "Severe cerebellar hypoplasia" }, { - "baseId": "181450", + "upstreamId": "181450", "text": "Hydranencephaly" }, { - "baseId": "181450|189094|237371|919709", + "upstreamId": "181450|189094|237371|919709", "text": "Hydrocephalus, congenital, 3, with brain anomalies" }, { - "baseId": "181451|215783|512266|971072", + "upstreamId": "181451|215783|512266|971072", "text": "Developmental delay with short stature, dysmorphic features, and sparse hair" }, { - "baseId": "181452|181462|203232|361061|361062|362161|679520|679521|681597|682737|801079|801159|801164|815958", + "upstreamId": "181452|181462|203232|361061|361062|362161|679520|679521|681597|682737|801079|801159|801164|815958", "text": "Cerebellar atrophy" }, { - "baseId": "181452", + "upstreamId": "181452", "text": "Bilateral squint" }, { - "baseId": "181453|263181|966614", + "upstreamId": "181453|263181|966614", "text": "Abnormality of the skeletal system" }, { - "baseId": "181454|181534|683214", + "upstreamId": "181454|181534|683214", "text": "Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset" }, { - "baseId": "181456", + "upstreamId": "181456", "text": "Severe dystonia" }, { - "baseId": "181456|626261|971090", + "upstreamId": "181456|626261|971090", "text": "Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities" }, { - "baseId": "181458", + "upstreamId": "181458", "text": "Severe cystic degeneration of the brain" }, { - "baseId": "181459|540564|971124", + "upstreamId": "181459|540564|971124", "text": "Mental retardation, autosomal recessive 36" }, { - "baseId": "181460", + "upstreamId": "181460", "text": "Brain iron accummulation" }, { - "baseId": "181461", + "upstreamId": "181461", "text": "Noonan-like facies" }, { - "baseId": "181466|260331|494918|494927|537080", + "upstreamId": "181466|260331|494918|494927|537080", "text": "Neurodegeneration with brain iron accumulation" }, { - "baseId": "181500|181501|414753|414754|980902", + "upstreamId": "181500|181501|414753|414754|980902", "text": "Meckel syndrome 12" }, { - "baseId": "181502|181503|181504", + "upstreamId": "181502|181503|181504", "text": "Multiple congenital anomalies/dysmorphic syndrome-intellectual disability" }, { - "baseId": "181522|424617|622759|919146", + "upstreamId": "181522|424617|622759|919146", "text": "Zimmermann-Laband syndrome 2" }, { - "baseId": "181523|181524|181525|364000|467981|469321|532255|532723|647204|653547|694266|694267|694268|704578|704581|704582|741341|846820|938422", + "upstreamId": "181523|181524|181525|364000|467981|469321|532255|532723|647204|653547|694266|694267|694268|704578|704581|704582|741341|846820|938422", "text": "Tenorio syndrome" }, { - "baseId": "181537|181538|181539|181540|181541", + "upstreamId": "181537|181538|181539|181540|181541", "text": "Cerebro-costo-mandibular syndrome" }, { - "baseId": "181559", + "upstreamId": "181559", "text": "Peeling skin syndrome 3" }, { - "baseId": "181571|181572|550645|816008|971157", + "upstreamId": "181571|181572|550645|816008|971157", "text": "Opitz GBBB syndrome, type II" }, { - "baseId": "181571|439220|552475|552476|552477|552478|552479|576361|576362|590719|705833|729070|792021|792022|816008|920109", + "upstreamId": "181571|439220|552475|552476|552477|552478|552479|576361|576362|590719|705833|729070|792021|792022|816008|920109", "text": "Hypertelorism, Teebi type" }, { - "baseId": "181578|181579|181580|181581", + "upstreamId": "181578|181579|181580|181581", "text": "Inactive tuberculosis" }, { - "baseId": "181585", + "upstreamId": "181585", "text": "Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive" }, { - "baseId": "181588|359076|709437", + "upstreamId": "181588|359076|709437", "text": "Amelogenesis imperfecta, type IF" }, { - "baseId": "181613|181624|420752", + "upstreamId": "181613|181624|420752", "text": "SDHB-Related Disorders" }, { - "baseId": "182469|204463", + "upstreamId": "182469|204463", "text": "Granular cell cancer" }, { - "baseId": "182469", + "upstreamId": "182469", "text": "Neuroepithelial neoplasm" }, { - "baseId": "182679", + "upstreamId": "182679", "text": "Renal cell carcinoma" }, { - "baseId": "183028|215048|215049|215050|215051|215052|215053|215054|215055", + "upstreamId": "183028|215048|215049|215050|215051|215052|215053|215054|215055", "text": "Mediastinal germ cell tumor" }, { - "baseId": "184244", + "upstreamId": "184244", "text": "Generalized hypopigmentation" }, { - "baseId": "184244|362817|551429", + "upstreamId": "184244|362817|551429", "text": "Basal cell carcinoma" }, { - "baseId": "184747", + "upstreamId": "184747", "text": "Lisch nodules" }, { - "baseId": "184747|222607|361014", + "upstreamId": "184747|222607|361014", "text": "Subcutaneous neurofibromas" }, { - "baseId": "185491|363066|363579|363581|363586|613530|613531", + "upstreamId": "185491|363066|363579|363581|363586|613530|613531", "text": "Pancreatic Neoplasms" }, { - "baseId": "185643|466188|677335|677981|822297", + "upstreamId": "185643|466188|677335|677981|822297", "text": "Hereditary breast cancer" }, { - "baseId": "185667|185668", + "upstreamId": "185667|185668", "text": "Mental retardation, autosomal recessive 48" }, { - "baseId": "185669|185670|185671|185672|185673|185938|237483|237484|237485|237486|237487|237488|237489|237490|249193|254780|353906|362155|362156|414716|511032|512042|578506|609032|609033|624861|672273|679790|791290|805103|961309|961870|970976|970977", + "upstreamId": "185669|185670|185671|185672|185673|185938|237483|237484|237485|237486|237487|237488|237489|237490|249193|254780|353906|362155|362156|414716|511032|512042|578506|609032|609033|624861|672273|679790|791290|805103|961309|961870|970976|970977", "text": "Congenital contractures of the limbs and face, hypotonia, and developmental delay" }, { - "baseId": "185675|612049|612050", + "upstreamId": "185675|612049|612050", "text": "Keratoderma with scleroatrophy of the extremities" }, { - "baseId": "185678|185679|185680|185681|185682|185683|185684|185685|185686|190178|236906|263872|263873|263874|263875|263876|263877|263878|263879|263880|263881|371695|371699|371707|371711|372684|374301|374310|374314|461460|461463|461674|461678|462296|503785|504431|526471|526474|526524|526531|527059|527061|564908|566171|566182|566193|567524|567527|567529|567534|567536|567538|567541|570985|570997|570999|640448|640449|640450|640451|640452|640453|640454|640455|640456|640457|640458|640459|640460|640461|640462|640463|652132|652395|656089|713150|713151|724708|724709|724710|724712|738272|738273|738274|738276|738277|744665|744769|752947|752948|752949|752950|768757|775948|784178|784179|784180|791169|820416|838991|838992|838993|838994|838995|838996|838997|838998|838999|839000|839001|839002|839003|839004|839005|839006|857622|903584|926384|926385|926386|926387|926388|935777|935778|935779|935780|935781|935782|935783|947655|947656|947657|947658|947659|947660|956657|956658|956659|956660|956661|956662|956663|956664|960014", + "upstreamId": "185678|185679|185680|185681|185682|185683|185684|185685|185686|190178|236906|263872|263873|263874|263875|263876|263877|263878|263879|263880|263881|371695|371699|371707|371711|372684|374301|374310|374314|461460|461463|461674|461678|462296|503785|504431|526471|526474|526524|526531|527059|527061|564908|566171|566182|566193|567524|567527|567529|567534|567536|567538|567541|570985|570997|570999|640448|640449|640450|640451|640452|640453|640454|640455|640456|640457|640458|640459|640460|640461|640462|640463|652132|652395|656089|713150|713151|724708|724709|724710|724712|738272|738273|738274|738276|738277|744665|744769|752947|752948|752949|752950|768757|775948|784178|784179|784180|791169|820416|838991|838992|838993|838994|838995|838996|838997|838998|838999|839000|839001|839002|839003|839004|839005|839006|857622|903584|926384|926385|926386|926387|926388|935777|935778|935779|935780|935781|935782|935783|947655|947656|947657|947658|947659|947660|956657|956658|956659|956660|956661|956662|956663|956664|960014", "text": "3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia" }, { - "baseId": "185692|205017|360041|360874|362052|362053|362054|362055|362056|362057|362058|367600|513940|514033|514048|514109|514112|514137|621021|621025|621026|621031|621035|621038|758701|792610|794093|794094|794095|794096|794097|794098|794099|794100|794100", + "upstreamId": "185692|205017|360041|360874|362052|362053|362054|362055|362056|362057|362058|367600|513940|514033|514048|514109|514112|514137|621021|621025|621026|621031|621035|621038|758701|792610|794093|794094|794095|794096|794097|794098|794099|794100|794100", "text": "Corpus callosum, agenesis of" }, { - "baseId": "185715|576172|624089", + "upstreamId": "185715|576172|624089", "text": "Spondylometaphyseal dysplasia, megarbane-dagher-melki type" }, { - "baseId": "185723", + "upstreamId": "185723", "text": "appendicular lean mass relative to body height" }, { - "baseId": "185737", + "upstreamId": "185737", "text": "Bile acid synthesis defect, congenital, 5" }, { - "baseId": "185738", + "upstreamId": "185738", "text": "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis" }, { - "baseId": "185738|185739|185740|185741", + "upstreamId": "185738|185739|185740|185741", "text": "Diamond-Blackfan anemia 15 with mandibulofacial dysostosis" }, { - "baseId": "185742", + "upstreamId": "185742", "text": "Cataract 43" }, { - "baseId": "185937|205420", + "upstreamId": "185937|205420", "text": "Megalencephaly with thick corpus callosum, cerebellar atrophy, and intellectual disability" }, { - "baseId": "185937|205420|244091|244092|364116|538445|792787|919588|973050", + "upstreamId": "185937|205420|244091|244092|364116|538445|792787|919588|973050", "text": "Macrocephaly, dysmorphic facies, and psychomotor retardation" }, { - "baseId": "185938", + "upstreamId": "185938", "text": "Intellectual disability with episodic ataxia and congenital arthrogryposis" }, { - "baseId": "186053|295960|295964|295986|295990|296025|296062|296065|296070|296089|296111|296171|296228|297782|297787|297812|297863|297876|297904|297905|297912|297914|297945|297952|297971|298007|298013|298024|298040|301689|301698|301702|301726|301859|301872|301874|301875|301921|301947|301978|301993|301995|302004|302043|302047|302062|302092|302093|302125|302157|302158|302171|302259|302260|302266|302267", + "upstreamId": "186053|295960|295964|295986|295990|296025|296062|296065|296070|296089|296111|296171|296228|297782|297787|297812|297863|297876|297904|297905|297912|297914|297945|297952|297971|298007|298013|298024|298040|301689|301698|301702|301726|301859|301872|301874|301875|301921|301947|301978|301993|301995|302004|302043|302047|302062|302092|302093|302125|302157|302158|302171|302259|302260|302266|302267", "text": "Mononeuropathy of the Median Nerve" }, { - "baseId": "186358|964259|976826|983572", + "upstreamId": "186358|964259|976826|983572", "text": "Concentric hypertrophic cardiomyopathy" }, { - "baseId": "186713|360880", + "upstreamId": "186713|360880", "text": "Ventricular hypertrophy" }, { - "baseId": "186749|357627", + "upstreamId": "186749|357627", "text": "Peroxisome biogenesis disorder type 1A" }, { - "baseId": "186926", + "upstreamId": "186926", "text": "PI NULL(WEST)" }, { - "baseId": "187056", + "upstreamId": "187056", "text": "Hyperhomocysteinemia" }, { - "baseId": "187087|513299|626187|783385", + "upstreamId": "187087|513299|626187|783385", "text": "Dystonia 23" }, { - "baseId": "187089|468972|468975|468978|469946|469950|469956|470404|470408|471091|471093|533127|533230|533234|533240|533654|533658|573238|648255|648256|648257|648258|694481|694482|694483|694484|694486|694487|694489|694491|694492|694493|705175|745428|778555|847860|847861|847862|847863|852880|903638|929030|950859|958691|966355", + "upstreamId": "187089|468972|468975|468978|469946|469950|469956|470404|470408|471091|471093|533127|533230|533234|533240|533654|533658|573238|648255|648256|648257|648258|694481|694482|694483|694484|694486|694487|694489|694491|694492|694493|705175|745428|778555|847860|847861|847862|847863|852880|903638|929030|950859|958691|966355", "text": "Spastic paraplegia 73, autosomal dominant" }, { - "baseId": "187090|187091|187092|187093|187094|187095|262448|262449|369797|370322|370324|370610|370612|370619|372184|458330|458335|458339|458344|458351|458360|458832|458834|458885|458892|459342|459347|481355|481356|524007|524314|524605|562811|562816|563229|563496|563499|563501|563505|563508|565547|565549|568514|568519|622394|626414|637737|637738|637739|637740|637741|637742|637743|637744|637745|651872|723337|736896|779297|783276|903557", + "upstreamId": "187090|187091|187092|187093|187094|187095|262448|262449|369797|370322|370324|370610|370612|370619|372184|458330|458335|458339|458344|458351|458360|458832|458834|458885|458892|459342|459347|481355|481356|524007|524314|524605|562811|562816|563229|563496|563499|563501|563505|563508|565547|565549|568514|568519|622394|626414|637737|637738|637739|637740|637741|637742|637743|637744|637745|651872|723337|736896|779297|783276|903557", "text": "Coenzyme Q10 deficiency, primary, 7" }, { - "baseId": "187125|227368", + "upstreamId": "187125|227368", "text": "Familial thyroid dyshormonogenesis" }, { - "baseId": "187125|227368|332084|609269|609270", + "upstreamId": "187125|227368|332084|609269|609270", "text": "Nongoitrous Euthyroid Hyperthyrotropinemia" }, { - "baseId": "187136|187137|425231|576188", + "upstreamId": "187136|187137|425231|576188", "text": "Keppen-Lubinsky syndrome" }, { - "baseId": "187145|244164|919438|983539|983540|983541", + "upstreamId": "187145|244164|919438|983539|983540|983541", "text": "Lethal congenital contracture syndrome 8" }, { - "baseId": "187146|187147|200707|248652|260940|513467|679798|972515", + "upstreamId": "187146|187147|200707|248652|260940|513467|679798|972515", "text": "Lethal congenital contracture syndrome 7" }, { - "baseId": "187198|187198|187199|211934|211934|211940|361073|361074|919956", + "upstreamId": "187198|187198|187199|211934|211934|211940|361073|361074|919956", "text": "Optic atrophy 9" }, { - "baseId": "187203|626106|966204", + "upstreamId": "187203|626106|966204", "text": "Lichtenstein-knorr syndrome" }, { - "baseId": "187204", + "upstreamId": "187204", "text": "Anhidrosis, isolated, with normal sweat glands" }, { - "baseId": "187223|187224|187225", + "upstreamId": "187223|187224|187225", "text": "Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads" }, { - "baseId": "187226|919783", + "upstreamId": "187226|919783", "text": "Cole-Carpenter syndrome 1" }, { - "baseId": "187228|187229|187230|626000|626001|626002|626003|626004|626005|626006|790432", + "upstreamId": "187228|187229|187230|626000|626001|626002|626003|626004|626005|626006|790432", "text": "Cole-Carpenter syndrome 2" }, { - "baseId": "187231|187232|573261", + "upstreamId": "187231|187232|573261", "text": "Idiopathic livedo reticularis with systemic involvement" }, { - "baseId": "187233|187234|790901|919224|919225|919226", + "upstreamId": "187233|187234|790901|919224|919225|919226", "text": "Singleton-Merten syndrome 2" }, { - "baseId": "187235|187236|187237|187238|187239|187240|187241|187242|360795|361293", + "upstreamId": "187235|187236|187237|187238|187239|187240|187241|187242|360795|361293", "text": "Exstrophy-epispadias complex" }, { - "baseId": "187243|248750|789377", + "upstreamId": "187243|248750|789377", "text": "Thauvin-Robinet-Faivre syndrome" }, { - "baseId": "187254", + "upstreamId": "187254", "text": "Pulmonary alveolar proteinosis" }, { - "baseId": "187258|406603|406604|439489|439490|439492|454148|454149|454297|454298|454300|454301|454628|454944|520428|520647|520914|562566|564416|564419|564430|612476|612477|632871|632872|632873|632874|632875|691655|691656|721187|730324|829842|829843|829844|829845|829846|923726|932579|932580|932581|944255|953927", + "upstreamId": "187258|406603|406604|439489|439490|439492|454148|454149|454297|454298|454300|454301|454628|454944|520428|520647|520914|562566|564416|564419|564430|612476|612477|632871|632872|632873|632874|632875|691655|691656|721187|730324|829842|829843|829844|829845|829846|923726|932579|932580|932581|944255|953927", "text": "Short-rib thoracic dysplasia 13 with or without polydactyly" }, { - "baseId": "187269|187270|513578|790711|790712|790713|919094", + "upstreamId": "187269|187270|513578|790711|790712|790713|919094", "text": "Mental retardation, autosomal dominant 33" }, { - "baseId": "187358|398057|419703", + "upstreamId": "187358|398057|419703", "text": "PTEN hamartoma tumor syndromes" }, { - "baseId": "187648", + "upstreamId": "187648", "text": "Primary hyperaldosteronism" }, { - "baseId": "187685|187686|265660|267375|270617|538964", + "upstreamId": "187685|187686|265660|267375|270617|538964", "text": "Myasthenic syndrome, congenital, 3c, associated with acetylcholine receptor deficiency" }, { - "baseId": "187694|187695|187696|270108|427130|961761", + "upstreamId": "187694|187695|187696|270108|427130|961761", "text": "Lipoyltransferase 1 deficiency" }, { - "baseId": "187894|513881|513882|513883", + "upstreamId": "187894|513881|513882|513883", "text": "Spermatogenic failure 25" }, { - "baseId": "187937|187938|244984|244988|245001|445605|445605|540465|798702", + "upstreamId": "187937|187938|244984|244988|245001|445605|445605|540465|798702", "text": "Epileptic encephalopathy, early infantile, 29" }, { - "baseId": "187940|187941|187942|187943|187944|363759|363952|364017|438217|442312|469657|469658|469661|469663|469665|469670|469674|469678|469679|470691|470696|470697|470703|470705|470707|470714|470715|470722|470724|470729|470733|470739|470741|471080|471231|471232|471233|471235|471238|471674|471676|471679|471681|471691|471695|471696|471700|471702|471703|533905|533906|533907|533909|533910|533912|533913|533915|533917|533921|533922|533924|533925|533926|533927|533928|533929|533931|533932|533937|533938|533951|533953|533966|533975|533977|534452|534454|534458|534460|571580|571583|571585|571587|571591|573143|573815|573817|573822|573824|575174|575175|575176|577896|580477|580486|580586|580589|580597|580633|580638|580642|580644|580648|580726|580734|580736|650484|650485|650487|650488|650489|650491|650493|650494|650495|650496|650499|650501|650502|650503|650504|650505|650506|650507|650508|650509|653231|653570|694637|695862|705718|705720|705721|705722|717229|717231|717232|728928|728929|728930|728931|728932|742662|742664|742665|742668|745339|745349|757841|757842|757847|757850|773365|773369|773370|776736|776818|778597|786504|786509|788305|798030|821355|821376|822187|822188|822189|822190|822191|822192|822193|822194|822195|822196|822197|822198|822199|822200|822201|822202|822203|822204|848822|848823|848824|848825|848826|848827|848828|848829|848830|848831|848832|848833|848834|848835|848836|848837|848838|848839|848840|848841|848842|848843|848844|848845|848846|848847|848848|848849|848850|848851|848852|848853|848854|848855|848856|853007|919937|929332|929333|929334|929335|929336|929337|929338|929339|929340|929341|929342|929343|939124|939125|939126|939127|939128|939129|939130|939131|939132|939133|939134|939135|951243|951244|951245|951246|951247|951248|951249|951250|951251|951252|951253|951254|951255|958967|958968|958969|958970|960327", + "upstreamId": "187940|187941|187942|187943|187944|363759|363952|364017|438217|442312|469657|469658|469661|469663|469665|469670|469674|469678|469679|470691|470696|470697|470703|470705|470707|470714|470715|470722|470724|470729|470733|470739|470741|471080|471231|471232|471233|471235|471238|471674|471676|471679|471681|471691|471695|471696|471700|471702|471703|533905|533906|533907|533909|533910|533912|533913|533915|533917|533921|533922|533924|533925|533926|533927|533928|533929|533931|533932|533937|533938|533951|533953|533966|533975|533977|534452|534454|534458|534460|571580|571583|571585|571587|571591|573143|573815|573817|573822|573824|575174|575175|575176|577896|580477|580486|580586|580589|580597|580633|580638|580642|580644|580648|580726|580734|580736|650484|650485|650487|650488|650489|650491|650493|650494|650495|650496|650499|650501|650502|650503|650504|650505|650506|650507|650508|650509|653231|653570|694637|695862|705718|705720|705721|705722|717229|717231|717232|728928|728929|728930|728931|728932|742662|742664|742665|742668|745339|745349|757841|757842|757847|757850|773365|773369|773370|776736|776818|778597|786504|786509|788305|798030|821355|821376|822187|822188|822189|822190|822191|822192|822193|822194|822195|822196|822197|822198|822199|822200|822201|822202|822203|822204|848822|848823|848824|848825|848826|848827|848828|848829|848830|848831|848832|848833|848834|848835|848836|848837|848838|848839|848840|848841|848842|848843|848844|848845|848846|848847|848848|848849|848850|848851|848852|848853|848854|848855|848856|853007|919937|929332|929333|929334|929335|929336|929337|929338|929339|929340|929341|929342|929343|939124|939125|939126|939127|939128|939129|939130|939131|939132|939133|939134|939135|951243|951244|951245|951246|951247|951248|951249|951250|951251|951252|951253|951254|951255|958967|958968|958969|958970|960327", "text": "Epileptic encephalopathy, early infantile, 30" }, { - "baseId": "187945|187946|965946", + "upstreamId": "187945|187946|965946", "text": "Deafness, autosomal dominant 67" }, { - "baseId": "187949", + "upstreamId": "187949", "text": "Lissencephaly 7 with cerebellar hypoplasia" }, { - "baseId": "187950|187951|187952", + "upstreamId": "187950|187951|187952", "text": "Torsion dystonia 2" }, { - "baseId": "187953|214480|225813|225818|225878|243900|263826|363334|364356|390746|578358|626640|906341|961250", + "upstreamId": "187953|214480|225813|225818|225878|243900|263826|363334|364356|390746|578358|626640|906341|961250", "text": "Smith-Kingsmore syndrome" }, { - "baseId": "187955|187956|187957|187958|791449|971017", + "upstreamId": "187955|187956|187957|187958|791449|971017", "text": "Microcephaly and chorioretinopathy, autosomal recessive, 3" }, { - "baseId": "187955", + "upstreamId": "187955", "text": "Autosomal recessive chorioretinopathy-microcephaly syndrome" }, { - "baseId": "187959|187960|622374|792766|858558", + "upstreamId": "187959|187960|622374|792766|858558", "text": "Mitochondrial myopathy-lactic acidosis-deafness syndrome" }, { - "baseId": "187962|205671|380421|380422|380423|380424|380425|380426|380427|380428|380429|380430|380431|380432|380433|380434|380435|380436|380437|380438|380439|380440|587772", + "upstreamId": "187962|205671|380421|380422|380423|380424|380425|380426|380427|380428|380429|380430|380431|380432|380433|380434|380435|380436|380437|380438|380439|380440|587772", "text": "VATER association" }, { - "baseId": "188023|197886|360883|360973|485741|920586", + "upstreamId": "188023|197886|360883|360973|485741|920586", "text": "Aortic dilatation" }, { - "baseId": "188044", + "upstreamId": "188044", "text": "Oculocutaneous albinism type 1" }, { - "baseId": "188056", + "upstreamId": "188056", "text": "Colon Serrated Polyposis" }, { - "baseId": "188056|248607", + "upstreamId": "188056|248607", "text": "Sessile serrated polyposis cancer syndrome" }, { - "baseId": "188066|188067|461411|461715|461717|526312|526313|526323|526325|526487|526493|526494|526495|526504|526773|564756|564757|564768|565871|565889|567352|567354|567363|570727|570730|640162|640163|640164|640165|640166|640167|640168|640169|640170|640171|640173|640174|640175|640176|640177|640181|640194|640195|640196|640197|640198|652200|701829|712918|712919|712921|724515|752721|768497|768503|779550|820434|838570|838571|838572|838573|838576|838577|838581|838582|838596|838597|838598|838599|838600|851441|852363|852368|852615|926280|926281|926288|935603|935604|935605|935614|940221|940222|947505|947506|947508|947509|947512|947517|947518|947519|947520|956535|956539|956540|956541|956542|959994", + "upstreamId": "188066|188067|461411|461715|461717|526312|526313|526323|526325|526487|526493|526494|526495|526504|526773|564756|564757|564768|565871|565889|567352|567354|567363|570727|570730|640162|640163|640164|640165|640166|640167|640168|640169|640170|640171|640173|640174|640175|640176|640177|640181|640194|640195|640196|640197|640198|652200|701829|712918|712919|712921|724515|752721|768497|768503|779550|820434|838570|838571|838572|838573|838576|838577|838581|838582|838596|838597|838598|838599|838600|851441|852363|852368|852615|926280|926281|926288|935603|935604|935605|935614|940221|940222|947505|947506|947508|947509|947512|947517|947518|947519|947520|956535|956539|956540|956541|956542|959994", "text": "Immunodeficiency 39" }, { - "baseId": "188114|188115|214096|214097|214098|214562|214565|264294|406872|421592|511680|790632|790633|970496|972939|972940|972941|972942|972943|972944", + "upstreamId": "188114|188115|214096|214097|214098|214562|214565|264294|406872|421592|511680|790632|790633|970496|972939|972940|972941|972942|972943|972944", "text": "Mental retardation, autosomal dominant 35" }, { - "baseId": "188131|188131|188132", + "upstreamId": "188131|188131|188132", "text": "Linear skin defects with multiple congenital anomalies 3" }, { - "baseId": "188142", + "upstreamId": "188142", "text": "PPP2R1A-related neurodevelopmental disorders" }, { - "baseId": "188143|188144|188145|188146|188147|188148|188149|263760|361117|362361|513288|539004|622885|788807|788808|790664|919064", + "upstreamId": "188143|188144|188145|188146|188147|188148|188149|263760|361117|362361|513288|539004|622885|788807|788808|790664|919064", "text": "Spinocerebellar ataxia, autosomal recessive 20" }, { - "baseId": "188150|188151", + "upstreamId": "188150|188151", "text": "Mandibulofacial dysostosis with alopecia" }, { - "baseId": "188152|188153|188154|188155|263933|404878|404879|413244|437817|440338|442578|446984|447041|447047|447049|447086|447088|447116|447121|447122|486730|514981|514987|514988|515005|515007|515017|515018|515024|515037|550344|556550|556552|556554|556581|556583|556585|556834|556836|556838|556974|556976|576391|612492|626572|626573|626574|626575|626576|626577|626578|653844|690335|718084|718085|731569|731570|731571|745562|761051|761052|761053|818837|821810|822493|822494|822495|822496|822497|822498|822499|822500|822501|858825|921564|921565|921566|921567|929952|929953|941367|941368|941369|952009|952010|962858|964109|964122", + "upstreamId": "188152|188153|188154|188155|263933|404878|404879|413244|437817|440338|442578|446984|447041|447047|447049|447086|447088|447116|447121|447122|486730|514981|514987|514988|515005|515007|515017|515018|515024|515037|550344|556550|556552|556554|556581|556583|556585|556834|556836|556838|556974|556976|576391|612492|626572|626573|626574|626575|626576|626577|626578|653844|690335|718084|718085|731569|731570|731571|745562|761051|761052|761053|818837|821810|822493|822494|822495|822496|822497|822498|822499|822500|822501|858825|921564|921565|921566|921567|929952|929953|941367|941368|941369|952009|952010|962858|964109|964122", "text": "Epileptic encephalopathy, early infantile, 32" }, { - "baseId": "188156|188157|188158|513555|521116|691693|691694|691695|691697|691698|691699|698776|698779|698781|698782|698785|709621|721215|734841|782142|790514|790515|830176", + "upstreamId": "188156|188157|188158|513555|521116|691693|691694|691695|691697|691698|691699|698776|698779|698781|698782|698785|709621|721215|734841|782142|790514|790515|830176", "text": "Chops syndrome" }, { - "baseId": "188198|188199|188200|188201|205150|205747|205748|252244|252289|252303|415044|511656|614300|614301|614302|614303|614304|622366|622367|677033|789400|816313|977220|977221|977222|980459|980460|983810", + "upstreamId": "188198|188199|188200|188201|205150|205747|205748|252244|252289|252303|415044|511656|614300|614301|614302|614303|614304|622366|622367|677033|789400|816313|977220|977221|977222|980459|980460|983810", "text": "Ehlers-Danlos syndrome due to tenascin-X deficiency" }, { - "baseId": "188212|188213|188214|226239|226240|226241|552291|610533|612183|612184|677957|818723|918597|918598", + "upstreamId": "188212|188213|188214|226239|226240|226241|552291|610533|612183|612184|677957|818723|918597|918598", "text": "Stromme syndrome" }, { - "baseId": "188236|191777|326590|489752", + "upstreamId": "188236|191777|326590|489752", "text": "Rhizomelic chondrodysplasia punctata type 5" }, { - "baseId": "188286|244018|360903", + "upstreamId": "188286|244018|360903", "text": "Bilateral ptosis" }, { - "baseId": "188286|360903", + "upstreamId": "188286|360903", "text": "Stridor" }, { - "baseId": "188287|188288|188289|188289|188290|377022|429761|429762|429763|429764|429766|429767|429768|429769|465728|465921|465924|529468|529789|530043|530047|567680|569539|569975|569989|573715|643922|643923|643924|643925|643926|643927|643928|643929|643929|643930|643931|643932|643933|643934|643935|652689|653219|714737|714738|714739|714740|726435|726436|739961|739962|744886|754902|754908|754912|760259|779752|791524|818786|820766|843113|843114|843115|843116|843117|843118|843119|843120|843121|843122|843123|843124|852625|858660|927565|927566|927567|927568|937221|937222|937223|937223|937224|937225|937226|941111|941112|949168|949169|949170|949171|949172|949173|949174|949175|957628|960132|960133|961420|962894|965625|969609|975948", + "upstreamId": "188287|188288|188289|188289|188290|377022|429761|429762|429763|429764|429766|429767|429768|429769|465728|465921|465924|529468|529789|530043|530047|567680|569539|569975|569989|573715|643922|643923|643924|643925|643926|643927|643928|643929|643929|643930|643931|643932|643933|643934|643935|652689|653219|714737|714738|714739|714740|726435|726436|739961|739962|744886|754902|754908|754912|760259|779752|791524|818786|820766|843113|843114|843115|843116|843117|843118|843119|843120|843121|843122|843123|843124|852625|858660|927565|927566|927567|927568|937221|937222|937223|937223|937224|937225|937226|941111|941112|949168|949169|949170|949171|949172|949173|949174|949175|957628|960132|960133|961420|962894|965625|969609|975948", "text": "Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4" }, { - "baseId": "188572|224443|622075|622077|622079|622080|967278|980501", + "upstreamId": "188572|224443|622075|622077|622079|622080|967278|980501", "text": "Long QT syndrome 8" }, { - "baseId": "188597|513443", + "upstreamId": "188597|513443", "text": "CACNA1C-related condition" }, { - "baseId": "188776|481553|622331|918844|918845", + "upstreamId": "188776|481553|622331|918844|918845", "text": "Night blindness, congenital stationary, type 1g" }, { - "baseId": "188778", + "upstreamId": "188778", "text": "Telomere length, mean leukocyte" }, { - "baseId": "188779|189041|202279|260857", + "upstreamId": "188779|189041|202279|260857", "text": "Early onset epileptic encephalopathy" }, { - "baseId": "188883|190898|190898|192531|193669|196060|223011|256170|256171|270858|328422|328428|338380|338381|338382|338387|338390|338398|338401|338404|338407|344439|344440|344447|344448|344452|345842|345847|345848|345852|345855|345859|345860|345861|432334|610082|610083|610084|619859|671989|671990|671991|671992|671993|671994|671995|671996|671997|671998|682343|727174|740744|800032|877479|877480|877481|877482|877483|877484|877485|877486|877487|877488|877489|877490|877491|877492|877493|877494|877495|877496|877497|877498|877499|877500|877501|877502|877503|877504|880515|880516|880517|977283", + "upstreamId": "188883|190898|190898|192531|193669|196060|223011|256170|256171|270858|328422|328428|338380|338381|338382|338387|338390|338398|338401|338404|338407|344439|344440|344447|344448|344452|345842|345847|345848|345852|345855|345859|345860|345861|432334|610082|610083|610084|619859|671989|671990|671991|671992|671993|671994|671995|671996|671997|671998|682343|727174|740744|800032|877479|877480|877481|877482|877483|877484|877485|877486|877487|877488|877489|877490|877491|877492|877493|877494|877495|877496|877497|877498|877499|877500|877501|877502|877503|877504|880515|880516|880517|977283", "text": "Osteogenesis imperfecta, type XI" }, { - "baseId": "188893|514319", + "upstreamId": "188893|514319", "text": "Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures" }, { - "baseId": "189049|431836", + "upstreamId": "189049|431836", "text": "X-linked retinitis pigmentosa" }, { - "baseId": "189079|408742|480548|480549|581865|970972|970973", + "upstreamId": "189079|408742|480548|480549|581865|970972|970973", "text": "Congenital hypotonia, epilepsy, developmental delay, and digital anomalies" }, { - "baseId": "189103|247572|247573|247574|247575|286038|286040|286047|286061|286065|286072|286801|286803|286808|286825|286851|289094|289096|289097|289468|289470|289472|289475|289476|496231|518175|532282|558067|558069|558428|560617|561464|561465|561466|561471|571932|571935|571936|572637|572639|574748|629944|629945|629946|629947|629948|629949|629950|629951|629952|647214|647215|647216|647217|647218|647219|647220|647221|647222|704593|704594|708234|708235|708236|708237|708238|708239|708240|708241|708242|708243|715964|715965|715966|715967|715968|715969|715970|715971|715972|719844|719845|719846|719847|719848|719850|719851|727710|727711|730138|731216|733449|741352|741354|756436|756438|763194|774824|781312|781313|790228|819156|826414|826415|826416|826417|826418|846830|846831|846832|850904|884732|884767|922749|922750|922751|922752|928701|928702|928703|928704|931380|931381|931382|931383|931384|931385|938429|942891|942892|942893|942894|942895|950515|950516|953082|953083|953084|960265|960475|960476", + "upstreamId": "189103|247572|247573|247574|247575|286038|286040|286047|286061|286065|286072|286801|286803|286808|286825|286851|289094|289096|289097|289468|289470|289472|289475|289476|496231|518175|532282|558067|558069|558428|560617|561464|561465|561466|561471|571932|571935|571936|572637|572639|574748|629944|629945|629946|629947|629948|629949|629950|629951|629952|647214|647215|647216|647217|647218|647219|647220|647221|647222|704593|704594|708234|708235|708236|708237|708238|708239|708240|708241|708242|708243|715964|715965|715966|715967|715968|715969|715970|715971|715972|719844|719845|719846|719847|719848|719850|719851|727710|727711|730138|731216|733449|741352|741354|756436|756438|763194|774824|781312|781313|790228|819156|826414|826415|826416|826417|826418|846830|846831|846832|850904|884732|884767|922749|922750|922751|922752|928701|928702|928703|928704|931380|931381|931382|931383|931384|931385|938429|942891|942892|942893|942894|942895|950515|950516|953082|953083|953084|960265|960475|960476", "text": "Xanthinuria type II" }, { - "baseId": "189152|189153", + "upstreamId": "189152|189153", "text": "all trans retinoic acid (ATRA) response" }, { - "baseId": "189167", + "upstreamId": "189167", "text": "Myopathy, lactic acidosis, and sideroblastic anemia 3" }, { - "baseId": "189176|227684|227685|227686|424606|511467|535699|550354|614258|615905|653810|653815|798524|964218|964815", + "upstreamId": "189176|227684|227685|227686|424606|511467|535699|550354|614258|615905|653810|653815|798524|964218|964815", "text": "Mental retardation, autosomal dominant 41" }, { - "baseId": "189177|471576|534292|534448|574134|575269|649487|649488|649489|649490|649491|649492|653336|682340|694731|695875|849336|849337", + "upstreamId": "189177|471576|534292|534448|574134|575269|649487|649488|649489|649490|649491|649492|653336|682340|694731|695875|849336|849337", "text": "Dystonia 26, myoclonic" }, { - "baseId": "189353", + "upstreamId": "189353", "text": "altered potassium channel function" }, { - "baseId": "189551|360830", + "upstreamId": "189551|360830", "text": "Bilateral talipes equinovarus" }, { - "baseId": "189551|360830", + "upstreamId": "189551|360830", "text": "Restrictive ventilatory defect" }, { - "baseId": "189551|360830", + "upstreamId": "189551|360830", "text": "Spinal rigidity" }, { - "baseId": "189551|360830", + "upstreamId": "189551|360830", "text": "Areflexia of lower limbs" }, { - "baseId": "189551|360830", + "upstreamId": "189551|360830", "text": "Thoracic kyphoscoliosis" }, { - "baseId": "189940|224203|360948|360976", + "upstreamId": "189940|224203|360948|360976", "text": "Heart disease" }, { - "baseId": "190032|965904|965905", + "upstreamId": "190032|965904|965905", "text": "Primary autosomal recessive microcephaly 14" }, { - "baseId": "190033|190034|190036|190037|190039|354157", + "upstreamId": "190033|190034|190036|190037|190039|354157", "text": "Cone-rod dystrophy 21" }, { - "baseId": "190048|190049|410839|446299|611435|614477", + "upstreamId": "190048|190049|410839|446299|611435|614477", "text": "Mental retardation, autosomal dominant 38" }, { - "baseId": "190050|190051|190052|425302|481127|509061", + "upstreamId": "190050|190051|190052|425302|481127|509061", "text": "Brugada syndrome 9" }, { - "baseId": "190053|190054|328024|328031|328032|328033|328034|328038|328040|328041|328042|328046|328047|328055|328066|328068|328071|328079|328081|328085|328087|328091|328095|328100|328101|328103|328112|328114|328115|328120|328122|328144|328145|337842|337843|337848|337849|337855|337860|337863|337865|337867|337870|337876|337879|337883|337886|337888|337891|337900|337904|337912|337920|337926|337933|337940|337941|337942|337944|337950|337951|337953|337961|337966|337967|337971|337972|337980|338017|338021|338022|338025|338027|344101|344104|344105|344108|344111|344112|344114|344115|344118|344120|344121|344125|344129|344132|344135|344136|344140|344145|344147|344150|344153|344155|344156|344159|344165|344166|344191|344200|344201|345493|345494|345500|345504|345505|345507|345528|345531|345532|345538|345539|345540|345543|345547|345550|345551|345556|345558|345562|345563|345565|345567|345570|345572|345577|345595|715382|755784|755785|771438|778470|877209|877210|877211|877212|877213|877214|877215|877216|877217|877218|877219|877220|877221|877222|877223|877224|877225|877226|877227|877228|877229|877230|877231|877232|877233|877234|877235|877236|877237|877238|877239|877240|877241|877242|877243|877244|877245|877246|877247|877248|877249|877250|877251|877252|877253|877254|877255|877256|877257|877258|877259|877260|877275|880500|880501|880502|880503|880504|880505|880506|880507", + "upstreamId": "190053|190054|328024|328031|328032|328033|328034|328038|328040|328041|328042|328046|328047|328055|328066|328068|328071|328079|328081|328085|328087|328091|328095|328100|328101|328103|328112|328114|328115|328120|328122|328144|328145|337842|337843|337848|337849|337855|337860|337863|337865|337867|337870|337876|337879|337883|337886|337888|337891|337900|337904|337912|337920|337926|337933|337940|337941|337942|337944|337950|337951|337953|337961|337966|337967|337971|337972|337980|338017|338021|338022|338025|338027|344101|344104|344105|344108|344111|344112|344114|344115|344118|344120|344121|344125|344129|344132|344135|344136|344140|344145|344147|344150|344153|344155|344156|344159|344165|344166|344191|344200|344201|345493|345494|345500|345504|345505|345507|345528|345531|345532|345538|345539|345540|345543|345547|345550|345551|345556|345558|345562|345563|345565|345567|345570|345572|345577|345595|715382|755784|755785|771438|778470|877209|877210|877211|877212|877213|877214|877215|877216|877217|877218|877219|877220|877221|877222|877223|877224|877225|877226|877227|877228|877229|877230|877231|877232|877233|877234|877235|877236|877237|877238|877239|877240|877241|877242|877243|877244|877245|877246|877247|877248|877249|877250|877251|877252|877253|877254|877255|877256|877257|877258|877259|877260|877275|880500|880501|880502|880503|880504|880505|880506|880507", "text": "Palmoplantar keratoderma, nonepidermolytic, focal 2" }, { - "baseId": "190074", + "upstreamId": "190074", "text": "Spinocerebellar ataxia 41" }, { - "baseId": "190094", + "upstreamId": "190094", "text": "Microcephaly with or without chorioretinopathy, lymphedema or intellectual disability (MCLID)" }, { - "baseId": "190096|190097|190098|190099|622307|970666", + "upstreamId": "190096|190097|190098|190099|622307|970666", "text": "Basal ganglia calcification, idiopathic, 6" }, { - "baseId": "190112|214746|490569|578308|578309|653223|778392", + "upstreamId": "190112|214746|490569|578308|578309|653223|778392", "text": "Familial adenomatous polyposis 3" }, { - "baseId": "190115|190116|190117|790939|983751|983752|983753|983754|983755|983756|983757|983758|983759|983760|983761", + "upstreamId": "190115|190116|190117|790939|983751|983752|983753|983754|983755|983756|983757|983758|983759|983760|983761", "text": "Hypomagnesemia, seizures, and mental retardation 1" }, { - "baseId": "190135|190136|190137|790596|790597", + "upstreamId": "190135|190136|190137|790596|790597", "text": "Lethal congenital contracture syndrome 9" }, { - "baseId": "190151|247440|247441|247442|247443|247619|247733|613863|965450|969295", + "upstreamId": "190151|247440|247441|247442|247443|247619|247733|613863|965450|969295", "text": "Russell-Silver syndrome" }, { - "baseId": "190153|622967|682371", + "upstreamId": "190153|622967|682371", "text": "Epilepsy, familial adult myoclonic 2" }, { - "baseId": "190155|190156|190157|190158|190159|225837|264105|363943|366879|406078|406079|406081|406084|425516|451618|451621|451625|451631|451632|451644|451649|451896|451908|451911|451913|451915|451916|451917|451927|451953|451954|451955|451962|451967|451972|451980|451982|452126|452129|452132|452136|452138|452145|452160|518697|518702|518704|518707|518711|518714|518717|518752|518760|518762|518767|518924|518925|518927|518963|518970|518972|518980|518982|553165|558738|558740|558742|558744|558746|558748|559271|559273|559275|559277|561094|561098|561102|561105|562249|562255|562261|576710|578994|579056|579086|625790|630732|630733|630734|630735|630736|630737|630738|630739|630740|630741|630742|630743|630744|630745|630746|630747|630748|630749|630750|651057|653856|653915|677414|697744|697745|697746|708461|743896|747870|747872|763511|763513|763514|781503|781505|781506|790314|790315|795307|798516|801984|801985|801986|802056|819311|821881|821882|821883|821884|821885|821886|827300|827301|827302|827303|827304|827305|827306|827307|827308|827309|827310|827311|827312|827313|827314|827315|827316|827317|851260|851264|859210|922985|922986|922987|922988|931681|931682|931683|931684|931685|931686|931687|931688|931689|931690|939926|940734|943250|943251|943252|943253|943254|943255|953295|953296|953297|959674|963531|964210|964211|969700|970749|977195", + "upstreamId": "190155|190156|190157|190158|190159|225837|264105|363943|366879|406078|406079|406081|406084|425516|451618|451621|451625|451631|451632|451644|451649|451896|451908|451911|451913|451915|451916|451917|451927|451953|451954|451955|451962|451967|451972|451980|451982|452126|452129|452132|452136|452138|452145|452160|518697|518702|518704|518707|518711|518714|518717|518752|518760|518762|518767|518924|518925|518927|518963|518970|518972|518980|518982|553165|558738|558740|558742|558744|558746|558748|559271|559273|559275|559277|561094|561098|561102|561105|562249|562255|562261|576710|578994|579056|579086|625790|630732|630733|630734|630735|630736|630737|630738|630739|630740|630741|630742|630743|630744|630745|630746|630747|630748|630749|630750|651057|653856|653915|677414|697744|697745|697746|708461|743896|747870|747872|763511|763513|763514|781503|781505|781506|790314|790315|795307|798516|801984|801985|801986|802056|819311|821881|821882|821883|821884|821885|821886|827300|827301|827302|827303|827304|827305|827306|827307|827308|827309|827310|827311|827312|827313|827314|827315|827316|827317|851260|851264|859210|922985|922986|922987|922988|931681|931682|931683|931684|931685|931686|931687|931688|931689|931690|939926|940734|943250|943251|943252|943253|943254|943255|953295|953296|953297|959674|963531|964210|964211|969700|970749|977195", "text": "Myoclonic-atonic epilepsy" }, { - "baseId": "190163|190164|917886", + "upstreamId": "190163|190164|917886", "text": "Microphthalmia, isolated, with coloboma 10" }, { - "baseId": "190165|190166|190167|190168", + "upstreamId": "190165|190166|190167|190168", "text": "Spermatogenic failure, X-linked, 2" }, { - "baseId": "190169|805124|861029", + "upstreamId": "190169|805124|861029", "text": "Trichothiodystrophy 5, nonphotosensitive" }, { - "baseId": "190175|190176|190177", + "upstreamId": "190175|190176|190177", "text": "46,XY sex reversal 10" }, { - "baseId": "190179|190180|248761|248762|248763|248764|421212|427716|788735|861040|861041|918481", + "upstreamId": "190179|190180|248761|248762|248763|248764|421212|427716|788735|861040|861041|918481", "text": "Leukodystrophy, hypomyelinating, 10" }, { - "baseId": "190181|190182|190183|190184|190185|190186|678051|964119", + "upstreamId": "190181|190182|190183|190184|190185|190186|678051|964119", "text": "Brachydactyly-arterial hypertension syndrome" }, { - "baseId": "190187|789121", + "upstreamId": "190187|789121", "text": "Pontocerebellar hypoplasia type 3" }, { - "baseId": "190188|190189", + "upstreamId": "190188|190189", "text": "Combined oxidative phosphorylation deficiency 25" }, { - "baseId": "190381|192972|193029|193111|193489|194681|254797|254798|254799|254805|254808|254812|254813|254814|318893|318894|318895|318899|318906|318910|318911|318916|318920|318921|318923|319016|327277|327278|327289|327290|327292|327295|327301|327305|327319|327327|327334|327336|327337|327338|327349|327452|333427|333434|333471|333482|333483|333496|333510|333515|333536|333537|333538|333543|333546|333555|335132|335149|335152|335163|335173|335180|335181|335196|335197|335212|335213|335230|335235|335237|335248|335297|335357|335365|353263", + "upstreamId": "190381|192972|193029|193111|193489|194681|254797|254798|254799|254805|254808|254812|254813|254814|318893|318894|318895|318899|318906|318910|318911|318916|318920|318921|318923|319016|327277|327278|327289|327290|327292|327295|327301|327305|327319|327327|327334|327336|327337|327338|327349|327452|333427|333434|333471|333482|333483|333496|333510|333515|333536|333537|333538|333543|333546|333555|335132|335149|335152|335163|335173|335180|335181|335196|335197|335212|335213|335230|335235|335237|335248|335297|335357|335365|353263", "text": "Acquired porencephaly" }, { - "baseId": "190422|190423|256719|256722|256723|271607|297283|299226|303465|303468|342322|342336|342348|342352|347747|347762|349112|349132|349138|349140|349145|349147", + "upstreamId": "190422|190423|256719|256722|256723|271607|297283|299226|303465|303468|342322|342336|342348|342352|347747|347762|349112|349132|349138|349140|349145|349147", "text": "Paget disease of bone" }, { - "baseId": "190426|204583|204584|204585|204586|204587|204588|362062|919233|964333", + "upstreamId": "190426|204583|204584|204585|204586|204587|204588|362062|919233|964333", "text": "Short stature with nonspecific skeletal abnormalities" }, { - "baseId": "190563|205286|362184|374023|413396|429621|539057|614015|614017|614020|614021|614022|919554|919555|919556|919557|919558|919559|919560|919561|919562|919563|920342", + "upstreamId": "190563|205286|362184|374023|413396|429621|539057|614015|614017|614020|614021|614022|919554|919555|919556|919557|919558|919559|919560|919561|919562|919563|920342", "text": "Prader-Willi syndrome" }, { - "baseId": "190611|190612|190613|266005|309229|309233|309235|309249|309250|309263|309266|313917|313919|313920|313925|319831|319832|319834|319835|320337|320343|320344|320349|320350|320356|320365|320372|320375|613962|865259|865260|865261|865262|865263|865264|865265|865266|865267|865268|865269|868428", + "upstreamId": "190611|190612|190613|266005|309229|309233|309235|309249|309250|309263|309266|313917|313919|313920|313925|319831|319832|319834|319835|320337|320343|320344|320349|320350|320356|320365|320372|320375|613962|865259|865260|865261|865262|865263|865264|865265|865266|865267|865268|865269|868428", "text": "Split hand-foot malformation 3" }, { - "baseId": "190642|267606|359211|364354|364355|414726|421163|442610|556627|626776|655030|780306|818831|822665|941428|941429", + "upstreamId": "190642|267606|359211|364354|364355|414726|421163|442610|556627|626776|655030|780306|818831|822665|941428|941429", "text": "Spondyloepimetaphyseal dysplasia with joint laxity" }, { - "baseId": "190659|190660|243346|283711|284399|286121|286148|286149|286164|286776|286862|286863|286867|286869|287482|287485|287486|288269|288271|289167|289171|289180|289511|289554|289565|289594|290953|290954|290962|290968|290981|291188|291192|291217|291225|293496|304108|304131|307702|312729|317489|318129|322018|322037|322041|322064|322093|329480|331296|331312|331333|331349|333815|333854|338138|338203|338215|340050|340054|340078|340097|343799|343803|349090|350017", + "upstreamId": "190659|190660|243346|283711|284399|286121|286148|286149|286164|286776|286862|286863|286867|286869|287482|287485|287486|288269|288271|289167|289171|289180|289511|289554|289565|289594|290953|290954|290962|290968|290981|291188|291192|291217|291225|293496|304108|304131|307702|312729|317489|318129|322018|322037|322041|322064|322093|329480|331296|331312|331333|331349|333815|333854|338138|338203|338215|340050|340054|340078|340097|343799|343803|349090|350017", "text": "Spastic paraplegia, autosomal dominant" }, { - "baseId": "190793|192097|192636|193028|194107|194661|215290|215291|246954|251245|251246|251248|251249|251250|251251|251255|251256|251257|251258|251259|251262|251263|251264|251265|251267|251268|251269|265669|266002|268088|268281|269737|272107|272439|272446|272805|273142|273662|291301|291305|291312|291314|291315|291320|291321|291326|291328|291329|291337|291339|291348|291349|291357|291362|291363|291367|291371|291375|291377|291378|291379|292375|292376|292378|292381|292384|292398|292404|292422|292424|292429|292430|292431|292449|292450|292453|292456|292459|292463|292472|292474|292476|292479|292480|292481|292485|292495|292500|292507|292509|292517|292518|295787|295788|295793|295799|295802|295803|295809|295812|295815|295832|295833|295834|295840|295841|295842|295843|295844|295850|295860|295862|295863|295864|295865|295866|295867|295868|295870|295874|295878|295879|295881|295882|295884|295888|295895|295896|295897|295902|295903|295905|295913|295914|295915|295917|295920|295921|295923|295926|295928|295932|295934|367354|367365|367714|367717|368789|368795|368806|368807|406356|433581|443505|488686|489919|491191|500348|500628|500630|500635|500817|500826|500840|500962|584829|612660|620135|620136|655570|659955|709003|720602|720605|734246|734248|748471|748479|764132|795463|799329|799330|889475|889476|889477|889478|889479|889480|889481|889482|889483|889484|889485|889486|889487|889488|889489|889490|889491|889492|889493|889494|889495|889496|889497|889498|889499|889500|889501|889502|889503|889504|889505|889506|889507|889508|889509|889510|889511|889512|889513|889514|889515|889516|889517|889518|889519|889520|889521|889522|889523|889524|889525|889526|889527|889528|889529|889530|889531|889532|889533|889534|889535|889536|889537|889538|889539|889540|889541|889542|889543|891694|891695|891696|891697|891698|891699|891700|977202", + "upstreamId": "190793|192097|192636|193028|194107|194661|215290|215291|246954|251245|251246|251248|251249|251250|251251|251255|251256|251257|251258|251259|251262|251263|251264|251265|251267|251268|251269|265669|266002|268088|268281|269737|272107|272439|272446|272805|273142|273662|291301|291305|291312|291314|291315|291320|291321|291326|291328|291329|291337|291339|291348|291349|291357|291362|291363|291367|291371|291375|291377|291378|291379|292375|292376|292378|292381|292384|292398|292404|292422|292424|292429|292430|292431|292449|292450|292453|292456|292459|292463|292472|292474|292476|292479|292480|292481|292485|292495|292500|292507|292509|292517|292518|295787|295788|295793|295799|295802|295803|295809|295812|295815|295832|295833|295834|295840|295841|295842|295843|295844|295850|295860|295862|295863|295864|295865|295866|295867|295868|295870|295874|295878|295879|295881|295882|295884|295888|295895|295896|295897|295902|295903|295905|295913|295914|295915|295917|295920|295921|295923|295926|295928|295932|295934|367354|367365|367714|367717|368789|368795|368806|368807|406356|433581|443505|488686|489919|491191|500348|500628|500630|500635|500817|500826|500840|500962|584829|612660|620135|620136|655570|659955|709003|720602|720605|734246|734248|748471|748479|764132|795463|799329|799330|889475|889476|889477|889478|889479|889480|889481|889482|889483|889484|889485|889486|889487|889488|889489|889490|889491|889492|889493|889494|889495|889496|889497|889498|889499|889500|889501|889502|889503|889504|889505|889506|889507|889508|889509|889510|889511|889512|889513|889514|889515|889516|889517|889518|889519|889520|889521|889522|889523|889524|889525|889526|889527|889528|889529|889530|889531|889532|889533|889534|889535|889536|889537|889538|889539|889540|889541|889542|889543|891694|891695|891696|891697|891698|891699|891700|977202", "text": "FLNB-Related Spectrum Disorders" }, { - "baseId": "190802|227346", + "upstreamId": "190802|227346", "text": "Bone mineral density quantitative trait locus 1" }, { - "baseId": "191253|224877|263252|360913|360914|425203|496110", + "upstreamId": "191253|224877|263252|360913|360914|425203|496110", "text": "Growth delay" }, { - "baseId": "191263|268075|268448|292256|292257|292263|292264|292285|297000|297001|297011|297012|297043|297046|297056|331416|331417|331418|331420|331425|331426|331428|331429|331434|341735|341736|341740|341742|341748|341749|347094|347098|347099|347100|347101|347104|347110|347113|347115|347116|348420|348425|348426|348429|348430|348431|348433|348439", + "upstreamId": "191263|268075|268448|292256|292257|292263|292264|292285|297000|297001|297011|297012|297043|297046|297056|331416|331417|331418|331420|331425|331426|331428|331429|331434|341735|341736|341740|341742|341748|341749|347094|347098|347099|347100|347101|347104|347110|347113|347115|347116|348420|348425|348426|348429|348430|348431|348433|348439", "text": "Smith-McCort dysplasia" }, { - "baseId": "191328|195870|195870|214063|214064|214065|226046|226047|226048|226049|226050|226051|272293|307590|544093|613501|792760", + "upstreamId": "191328|195870|195870|214063|214064|214065|226046|226047|226048|226049|226050|226051|272293|307590|544093|613501|792760", "text": "Heimler syndrome 2" }, { - "baseId": "191401|192021|238372|360822|366028|511336|628711|790070|790071|970714|970715", + "upstreamId": "191401|192021|238372|360822|366028|511336|628711|790070|790071|970714|970715", "text": "Early infantile epileptic encephalopathy 62" }, { - "baseId": "191401|192021|238372|360822|513175|513176|513177|513178|816441|964166", + "upstreamId": "191401|192021|238372|360822|513175|513176|513177|513178|816441|964166", "text": "Epilepsy, familial focal, with variable foci 4" }, { - "baseId": "191565|550367", + "upstreamId": "191565|550367", "text": "SCN8A-related disorder" }, { - "baseId": "191884", + "upstreamId": "191884", "text": "SCN1A-Related Disorders" }, { - "baseId": "191890", + "upstreamId": "191890", "text": "FLNA-related disorder" }, { - "baseId": "192240|192241|194311|194312|268964|273740|329344|329348|329350|329353|329358|345360|345364|345365|345368|346743|346744|346745|550125|586653|589676|688805|694141|861144|878111|878112|878113|878114|878115|878116|878117|878118|878119|878120|878121|878122|878123|878124|878125|878126|878127|878128|878129|878130|880565|880566", + "upstreamId": "192240|192241|194311|194312|268964|273740|329344|329348|329350|329353|329358|345360|345364|345365|345368|346743|346744|346745|550125|586653|589676|688805|694141|861144|878111|878112|878113|878114|878115|878116|878117|878118|878119|878120|878121|878122|878123|878124|878125|878126|878127|878128|878129|878130|880565|880566", "text": "Growth hormone deficiency" }, { - "baseId": "192598|192599|192600|194555|194558|194559|254272|291930|291932|291938|291943|291951|293328|293357|293358|293360|296667|296670|296671|296674|296675|296681|296691|296699|314845|314861|314862|314865|314867|314872|314873|314879|321649|321650|321653|322134|322145|323103|327685|327736|327743|327744|327745|327748|327749|328816|328819|328827|331427|338167|338170|338210|338239|339697|340151|344312", + "upstreamId": "192598|192599|192600|194555|194558|194559|254272|291930|291932|291938|291943|291951|293328|293357|293358|293360|296667|296670|296671|296674|296675|296681|296691|296699|314845|314861|314862|314865|314867|314872|314873|314879|321649|321650|321653|322134|322145|323103|327685|327736|327743|327744|327745|327748|327749|328816|328819|328827|331427|338167|338170|338210|338239|339697|340151|344312", "text": "Congenital Stationary Night Blindness, Recessive" }, { - "baseId": "192662|322465|331847|331854|334830|334832|334837|338871|344705|344707|349683|349686|349687|349688|349692|350684|350687|654899", + "upstreamId": "192662|322465|331847|331854|334830|334832|334837|338871|344705|344707|349683|349686|349687|349688|349692|350684|350687|654899", "text": "Congenital dyserythropoietic anemia" }, { - "baseId": "192995|205231|285543|288937|288967|288979|296803|298736|298743|302946|303128|318655|318659|318675|318687|326790|326934|332972|333048|333051|333068|333083|333105|334543|334549|334732|334798|334799|334803|334807|334818|334825", + "upstreamId": "192995|205231|285543|288937|288967|288979|296803|298736|298743|302946|303128|318655|318659|318675|318687|326790|326934|332972|333048|333051|333068|333083|333105|334543|334549|334732|334798|334799|334803|334807|334818|334825", "text": "Hereditary sensory and autonomic neuropathy type II" }, { - "baseId": "193191|202453|282352|282353|282354|282355|282359|282360|282369|283031|283039|283042|283043|283093|283094|284604|284606|284613|284630|285054|285055|285062|285069|311035|311128|311129|317606|317661|317686|331773|331794|331804|333249|333251|353541", + "upstreamId": "193191|202453|282352|282353|282354|282355|282359|282360|282369|283031|283039|283042|283043|283093|283094|284604|284606|284613|284630|285054|285055|285062|285069|311035|311128|311129|317606|317661|317686|331773|331794|331804|333249|333251|353541", "text": "Early Infantile Epileptic Encephalopathy, Autosomal Dominant" }, { - "baseId": "193483|378472|485873|485874|485875|485876|805117|816357", + "upstreamId": "193483|378472|485873|485874|485875|485876|805117|816357", "text": "Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies" }, { - "baseId": "193507|312076|312079|312081|312083|312085|312088|317728|317744|317745|317747|317748|317749|317755|323771|323789|323792|323793|323795|323796|323804|323809|323818|323831|323837|323843|324482|324490|324493|324496|324502|324525|324539|324545|324546|324547|724175|866823|866824|866825|866826|866827|866828|866829|866830|866831|866832|866833|866834|866835|866836|868581|868582", + "upstreamId": "193507|312076|312079|312081|312083|312085|312088|317728|317744|317745|317747|317748|317749|317755|323771|323789|323792|323793|323795|323796|323804|323809|323818|323831|323837|323843|324482|324490|324493|324496|324502|324525|324539|324545|324546|324547|724175|866823|866824|866825|866826|866827|866828|866829|866830|866831|866832|866833|866834|866835|866836|868581|868582", "text": "Metaphyseal anadysplasia" }, { - "baseId": "193524|324572|324574|324585|324589|324595|334144|334147|334149|340832|340838|340839|340842|342222|342224|703545|770594|874825|874827|874828|874829|874830|874831|874832|874833|874834|874835|874836|874837|874838|874839|874840|874841|876633", + "upstreamId": "193524|324572|324574|324585|324589|324595|334144|334147|334149|340832|340838|340839|340842|342222|342224|703545|770594|874825|874827|874828|874829|874830|874831|874832|874833|874834|874835|874836|874837|874838|874839|874840|874841|876633", "text": "UMOD-Associated Kidney Disease" }, { - "baseId": "193961", + "upstreamId": "193961", "text": "Classic multiminicore myopathy" }, { - "baseId": "194348|207867|264645|965582", + "upstreamId": "194348|207867|264645|965582", "text": "Focal seizures with impairment of consciousness or awareness" }, { - "baseId": "194351|278697|278726|278912|278917|280044|280090|280169|280171|283985|289693|289714|290450|290472|290485|290486|293545|293548|294144|320697|320698|320704|329501|329502|329506|329507|329508|329509|336094|336097|336106|336119|336131|338009|338016|338023|338038|353093|353647", + "upstreamId": "194351|278697|278726|278912|278917|280044|280090|280169|280171|283985|289693|289714|290450|290472|290485|290486|293545|293548|294144|320697|320698|320704|329501|329502|329506|329507|329508|329509|336094|336097|336106|336119|336131|338009|338016|338023|338038|353093|353647", "text": "Cleft Lip +/- Cleft Palate, Autosomal Dominant" }, { - "baseId": "194410|250761|286996|287001|287003|287024|287070|287788|287814|289162|289967|289968|289969|289972|289975|289986|290138|290549|290561|290631|290634|293058|293472|306486|314291|316039|320896|328007|328018|328020|329365|339623|345381|346754|346763|353640|353641", + "upstreamId": "194410|250761|286996|287001|287003|287024|287070|287788|287814|289162|289967|289968|289969|289972|289975|289986|290138|290549|290561|290631|290634|293058|293472|306486|314291|316039|320896|328007|328018|328020|329365|339623|345381|346754|346763|353640|353641", "text": "Congenital Myasthenic Syndrome, Recessive" }, { - "baseId": "195230|291713|291719|291720|291722|291724|291725|291726|293046|293047|293051|293052|293054|296315|296319|296366|297144|311806|311813", + "upstreamId": "195230|291713|291719|291720|291722|291724|291725|291726|293046|293047|293051|293052|293054|296315|296319|296366|297144|311806|311813", "text": "Combined Pituitary Hormone Deficiency, Recessive" }, { - "baseId": "195354|203840|203843|961746|976516", + "upstreamId": "195354|203840|203843|961746|976516", "text": "Generalized myoclonic seizures" }, { - "baseId": "195700|437850|609208|609209|609210|609219|609220|609221|609222|609223|609240", + "upstreamId": "195700|437850|609208|609209|609210|609219|609220|609221|609222|609223|609240", "text": "Nonsyndromic cleft lip palate" }, { - "baseId": "195704|196002|280582|280601|280607|280608|281071|282349|282361|282581|282591|282593|282602|282605|427819|481594|615934", + "upstreamId": "195704|196002|280582|280601|280607|280608|281071|282349|282361|282581|282591|282593|282602|282605|427819|481594|615934", "text": "GLUT1 deficiency syndrome" }, { - "baseId": "195870|973023", + "upstreamId": "195870|973023", "text": "PEX6-Related Disorders" }, { - "baseId": "196051|201228|390660|390661|390662|390663|390664|390665|390666|404707|404708", + "upstreamId": "196051|201228|390660|390661|390662|390663|390664|390665|390666|404707|404708", "text": "MBD5 associated neurodevelopmental disorder" }, { - "baseId": "196215|208567|208570|343319", + "upstreamId": "196215|208567|208570|343319", "text": "Primary Microcephaly 2 With or Without Cortical Malformations" }, { - "baseId": "196307|551719", + "upstreamId": "196307|551719", "text": "developmental delay with intractable seizures" }, { - "baseId": "196335", + "upstreamId": "196335", "text": "Neurologic Disorders/Seipinopathy" }, { - "baseId": "196335|253485|307677|311934|318023|318040", + "upstreamId": "196335|253485|307677|311934|318023|318040", "text": "Congenital generalized lipodystrophy (disease)" }, { - "baseId": "196414|196415|196416|215775|447233|447323|447346|447348|447350|447351|447359|447411|447412|447419|515211|515213|515214|515217|515229|515231|515233|515237|515318|515329|556658|556717|557007|558188|558190|558192|558194|624162|627005|627006|627007|627008|627009|627010|627011|650591|650668|706787|718310|718312|731807|745783|761295|761297|761299|774401|780360|780362|822910|822911|822912|822913|822914|822915|822916|822917|822918|822919|822920|822921|822922|822923|822924|822925|822926|822927|921708|921709|921710|921711|921712|921713|921714|921715|921716|930110|930111|930112|930113|930114|930115|930116|930117|930118|939777|940604|940605|941535|941536|941537|941538|941539|941540|941541|941542|941543|952119|952120|952121|952122|952123|952124|959526|960409|966610", + "upstreamId": "196414|196415|196416|215775|447233|447323|447346|447348|447350|447351|447359|447411|447412|447419|515211|515213|515214|515217|515229|515231|515233|515237|515318|515329|556658|556717|557007|558188|558190|558192|558194|624162|627005|627006|627007|627008|627009|627010|627011|650591|650668|706787|718310|718312|731807|745783|761295|761297|761299|774401|780360|780362|822910|822911|822912|822913|822914|822915|822916|822917|822918|822919|822920|822921|822922|822923|822924|822925|822926|822927|921708|921709|921710|921711|921712|921713|921714|921715|921716|930110|930111|930112|930113|930114|930115|930116|930117|930118|939777|940604|940605|941535|941536|941537|941538|941539|941540|941541|941542|941543|952119|952120|952121|952122|952123|952124|959526|960409|966610", "text": "Autoimmune interstitial lung, joint, and kidney disease" }, { - "baseId": "196418|196419|196420|196421|196422|443750|454810|454814|454823|454826|454828|454832|454835|454929|454933|454939|454940|454947|455405|455406|455416|455418|455420|455427|455432|455666|455669|521016|521019|521022|521025|521029|521031|521048|521051|521058|521072|521251|521257|521259|521265|521268|521272|521282|521284|521286|521291|521293|521294|521299|521415|521417|521420|521421|521425|521515|521518|521524|521529|521534|521539|521546|560263|560265|560267|560269|560372|560374|560376|560378|560380|563036|563039|563040|563042|563044|563045|563047|563051|563057|565011|565012|624303|633731|633732|633733|633734|633735|633736|633737|633738|633739|633740|633741|633742|633743|633744|633745|633746|633747|633748|633749|633750|633751|633752|633753|651317|651320|651386|651414|709813|709815|709816|709817|709818|709819|709820|709821|709822|721374|721375|721376|721377|734996|734997|734999|735000|744036|744222|744225|749407|749408|749409|749411|749412|749415|749417|765011|765018|765019|779087|779091|790535|790536|790537|830628|830629|830630|830631|830632|830633|830634|830635|830636|830637|830638|830639|830640|830641|830642|830643|830644|830645|830646|830647|830648|830649|830650|830651|830652|830653|830654|830655|830656|830657|830658|851028|852199|923990|923991|923992|923993|923994|923995|923996|923997|923998|923999|932838|932839|932840|932841|932842|932843|932844|932845|932846|932847|939999|944534|944535|944536|944537|944538|944539|944540|944541|944542|954108|954109|954110|960560|960561", + "upstreamId": "196418|196419|196420|196421|196422|443750|454810|454814|454823|454826|454828|454832|454835|454929|454933|454939|454940|454947|455405|455406|455416|455418|455420|455427|455432|455666|455669|521016|521019|521022|521025|521029|521031|521048|521051|521058|521072|521251|521257|521259|521265|521268|521272|521282|521284|521286|521291|521293|521294|521299|521415|521417|521420|521421|521425|521515|521518|521524|521529|521534|521539|521546|560263|560265|560267|560269|560372|560374|560376|560378|560380|563036|563039|563040|563042|563044|563045|563047|563051|563057|565011|565012|624303|633731|633732|633733|633734|633735|633736|633737|633738|633739|633740|633741|633742|633743|633744|633745|633746|633747|633748|633749|633750|633751|633752|633753|651317|651320|651386|651414|709813|709815|709816|709817|709818|709819|709820|709821|709822|721374|721375|721376|721377|734996|734997|734999|735000|744036|744222|744225|749407|749408|749409|749411|749412|749415|749417|765011|765018|765019|779087|779091|790535|790536|790537|830628|830629|830630|830631|830632|830633|830634|830635|830636|830637|830638|830639|830640|830641|830642|830643|830644|830645|830646|830647|830648|830649|830650|830651|830652|830653|830654|830655|830656|830657|830658|851028|852199|923990|923991|923992|923993|923994|923995|923996|923997|923998|923999|932838|932839|932840|932841|932842|932843|932844|932845|932846|932847|939999|944534|944535|944536|944537|944538|944539|944540|944541|944542|954108|954109|954110|960560|960561", "text": "Immunodeficiency 40" }, { - "baseId": "196427|196428|917947|917948|917949", + "upstreamId": "196427|196428|917947|917948|917949", "text": "Fanconi anemia, complementation group T" }, { - "baseId": "196817|213532|213571|224371|405508|434610", + "upstreamId": "196817|213532|213571|224371|405508|434610", "text": "Ehlers-Danlos syndrome, type 3" }, { - "baseId": "197521|226957|389102|514123|553143|590049|801187|801217", + "upstreamId": "197521|226957|389102|514123|553143|590049|801187|801217", "text": "Abnormality of the cerebral white matter" }, { - "baseId": "197660|971395", + "upstreamId": "197660|971395", "text": "Progressive congenital scoliosis" }, { - "baseId": "198601", + "upstreamId": "198601", "text": "Hemolytic disease of fetus OR newborn due to RhD isoimmunization" }, { - "baseId": "198601", + "upstreamId": "198601", "text": "Anti-D isoimmunization affecting pregnancy" }, { - "baseId": "198618", + "upstreamId": "198618", "text": "GLB1-Related Disorders" }, { - "baseId": "198685|360828", + "upstreamId": "198685|360828", "text": "Proximal lower limb amyotrophy" }, { - "baseId": "198685|360828", + "upstreamId": "198685|360828", "text": "Decreased patellar reflex" }, { - "baseId": "198685", + "upstreamId": "198685", "text": "Rimmed vacuoles" }, { - "baseId": "198685", + "upstreamId": "198685", "text": "Limb-girdle muscle atrophy" }, { - "baseId": "199051|208908|434672|443088|485811|858778|858781|858785|858790", + "upstreamId": "199051|208908|434672|443088|485811|858778|858781|858785|858790", "text": "Centronuclear myopathy" }, { - "baseId": "199781|424262|961619", + "upstreamId": "199781|424262|961619", "text": "Intellectual disability and seizures" }, { - "baseId": "199794|620825", + "upstreamId": "199794|620825", "text": "LIPA-Related Disorders" }, { - "baseId": "199803|230626|230630|654796", + "upstreamId": "199803|230626|230630|654796", "text": "Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies" }, { - "baseId": "199848|199849|199850|199851|199852|199853|199854|247083|413346|437940|462450|462694|462696|463181|463294|463295|463299|463300|463303|463308|505020|527327|527335|527637|527640|527641|527646|527866|565695|565696|565701|567036|567047|571988|571995|641361|641362|641363|641364|641365|652731|693274|693276|693277|693278|695582|695583|713707|798660|798661|798662|798663|798664|801575|840211|840212|840213|840214|861392|861393|936231|936232|956918|956919|960055|964397", + "upstreamId": "199848|199849|199850|199851|199852|199853|199854|247083|413346|437940|462450|462694|462696|463181|463294|463295|463299|463300|463303|463308|505020|527327|527335|527637|527640|527641|527646|527866|565695|565696|565701|567036|567047|571988|571995|641361|641362|641363|641364|641365|652731|693274|693276|693277|693278|695582|695583|713707|798660|798661|798662|798663|798664|801575|840211|840212|840213|840214|861392|861393|936231|936232|956918|956919|960055|964397", "text": "Frontotemporal dementia and/or amyotrophic lateral sclerosis 4" }, { - "baseId": "199855", + "upstreamId": "199855", "text": "Deafness, congenital, with onychodystrophy, autosomal dominant" }, { - "baseId": "199862|364869|364882|447509|498222|515479|515489|515595|515609|549875|549876|549877|556796|557165|558351|627402|627403|627404|627405|627406|690507|690508|695027|823498|823499|823500|930337|940621", + "upstreamId": "199862|364869|364882|447509|498222|515479|515489|515595|515609|549875|549876|549877|556796|557165|558351|627402|627403|627404|627405|627406|690507|690508|695027|823498|823499|823500|930337|940621", "text": "Spastic paraplegia 74, autosomal recessive" }, { - "baseId": "199874|199875|583088|614600|697690|708404|970748", + "upstreamId": "199874|199875|583088|614600|697690|708404|970748", "text": "Acrofacial dysostosis, Cincinnati type" }, { - "baseId": "199876|199877|361734|361735|361736|405706|708211|790227|918766|977188|977189", + "upstreamId": "199876|199877|361734|361735|361736|405706|708211|790227|918766|977188|977189", "text": "Epileptic encephalopathy, early infantile, 50" }, { - "baseId": "199878", + "upstreamId": "199878", "text": "Alopecia congenita keratosis palmoplantaris" }, { - "baseId": "199879|199880", + "upstreamId": "199879|199880", "text": "Erythrokeratodermia variabilis et progressiva 3" }, { - "baseId": "199952", + "upstreamId": "199952", "text": "Methylmalonic aciduria" }, { - "baseId": "199983|199984|199985|215216|270084|282051|282712|284556|284557|284564|628488|690749|719280|762214|794787|977575|977576|977577", + "upstreamId": "199983|199984|199985|215216|270084|282051|282712|284556|284557|284564|628488|690749|719280|762214|794787|977575|977576|977577", "text": "Methylmalonic aciduria with homocystinuria cblD type" }, { - "baseId": "200092|299102|360826|361067|361069|361097|522940|564803|612361|612362|612363|612364|612365|612366|612367|612368|612369|612370|612371|612372|612373|612374|612375|612376|612377|612378|612379|612380|612381|612382|612383|612384|612385|612386|612387|612388|612389|612390|612391|612392|612393|612394|612395|612396|612397|612398|612399|612400|612401|612402|612403|612404|612405|612406|612407|612408|612409|612410|612411|612412|612413|612414|612415|612416|612417|612418|612419|612420|612421|612422|612423|612424|612425|612426|612427|612428|612429|801103|801104", + "upstreamId": 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"200359|376912|377930|572837|573438|648546|648547|648548|648549|648550|705358|757361|786319|821297|848182|848183|848184|848185|938896", "text": "Methylmalonic aciduria due to transcobalamin receptor defect" }, { - "baseId": "200397|200398|200399", + "upstreamId": "200397|200398|200399", "text": "Meier-gorlin syndrome 6" }, { - "baseId": 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"text": "Ullrich congenital muscular dystrophy 2" }, { - "baseId": 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"text": "Bethlem myopathy 2" }, { - "baseId": "200708|200709|919365", + "upstreamId": "200708|200709|919365", "text": "Exudative vitreoretinopathy 6" }, { - "baseId": "200710|200711", + "upstreamId": "200710|200711", "text": "Retinitis pigmentosa 72" }, { - "baseId": "200718|205252|205702", + "upstreamId": "200718|205252|205702", "text": "Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome" }, { - "baseId": "200762|200763|200765|200766|200767|200769|200770|514251|514252|514253|514254|514255|514256|788887|917779", + "upstreamId": "200762|200763|200765|200766|200767|200769|200770|514251|514252|514253|514254|514255|514256|788887|917779", "text": "Adams-Oliver syndrome 6" }, { - "baseId": "200878|905829|905830|905831|905832|964360|964361", + "upstreamId": "200878|905829|905830|905831|905832|964360|964361", "text": "Growth restriction, severe, with distinctive facies" }, { - "baseId": "200885|200887|200888|200889|205558|455396|455414|455415|455424|455500|455504|455507|455514|455525|455528|456230|456238|456240|521483|521777|521781|521787|521788|521873|521878|521879|522157|522162|522163|560642|560644|560646|560648|560650|563460|563463|563465|563466|565499|565502|565507|634751|634752|634753|634754|634755|634756|634757|634758|634759|634760|651532|744106|850690|850691|850693|850694|850695|850696|850697|929876|929877|929878|929879|951953|951954|959417|959418|959419|959420", + "upstreamId": "200885|200887|200888|200889|205558|455396|455414|455415|455424|455500|455504|455507|455514|455525|455528|456230|456238|456240|521483|521777|521781|521787|521788|521873|521878|521879|522157|522162|522163|560642|560644|560646|560648|560650|563460|563463|563465|563466|565499|565502|565507|634751|634752|634753|634754|634755|634756|634757|634758|634759|634760|651532|744106|850690|850691|850693|850694|850695|850696|850697|929876|929877|929878|929879|951953|951954|959417|959418|959419|959420", "text": "Ciliary dyskinesia, primary, 32" }, { - "baseId": "200970|200971|200972|200973|200974|215173|259235|411605|411606|609275|609276|732842|790064|790065|790067|857610|857627|861670|963435|964991", + "upstreamId": "200970|200971|200972|200973|200974|215173|259235|411605|411606|609275|609276|732842|790064|790065|790067|857610|857627|861670|963435|964991", "text": "Infantile liver failure syndrome 2" }, { - "baseId": "200983|200983|200984|200984|200985|200986|200987|214344|214345|214346|214347|214347|260917|353908|364136|409140|426072|429581|429582|438769|463307|463315|463316|463321|463323|463330|463335|463844|463845|463854|464181|464184|464187|464189|464196|464210|464326|464331|464332|514662|528218|528219|528220|528222|528576|528586|528587|528691|566189|566507|568950|568952|611786|642523|642524|642525|652956|693515|693515|693516|693518|693519|702911|702912|702913|702914|702915|702916|702917|702918|702920|702921|702922|725711|778191|778288|784734|791416|820631|841566|841567|841568|919533|927106|927107|927108|936643|936644|936645|940305|940306|948592|948593|972793", + "upstreamId": "200983|200983|200984|200984|200985|200986|200987|214344|214345|214346|214347|214347|260917|353908|364136|409140|426072|429581|429582|438769|463307|463315|463316|463321|463323|463330|463335|463844|463845|463854|464181|464184|464187|464189|464196|464210|464326|464331|464332|514662|528218|528219|528220|528222|528576|528586|528587|528691|566189|566507|568950|568952|611786|642523|642524|642525|652956|693515|693515|693516|693518|693519|702911|702912|702913|702914|702915|702916|702917|702918|702920|702921|702922|725711|778191|778288|784734|791416|820631|841566|841567|841568|919533|927106|927107|927108|936643|936644|936645|940305|940306|948592|948593|972793", "text": "Joubert syndrome 23" }, { - "baseId": 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"200983|200983|200984|205373|205374|214347|364136|409140|429581|438769|463307|463315|463316|463321|463323|463330|463335|463844|463845|463854|464181|464184|464187|464189|464196|464210|464326|464331|464332|514662|528218|528219|528220|528222|528576|528586|528587|528691|566189|566507|568950|568950|568952|611786|642523|642524|642525|652956|693515|693516|693518|693519|702911|702912|702913|702914|702915|702916|702917|702918|702920|702921|702922|725711|778191|778288|784734|820631|841566|841567|841568|927106|927107|927108|936643|936644|936645|940305|940306|948592|948593", "text": "Short-rib thoracic dysplasia 14 with polydactyly" }, { - "baseId": "200983|260900|260907|260908|260914|260917|260923|260924|362277", + "upstreamId": "200983|260900|260907|260908|260914|260917|260923|260924|362277", "text": "Joubert syndrome and related disorders" }, { - "baseId": "201007|431489", + "upstreamId": "201007|431489", "text": "Beukes hip dysplasia" }, { - "baseId": "201142|231839|264585|332444|359214|361120|361121|361122|361124|361127|361130|361140|361141|361142|361146|361147|361149|361150|361155|608933|608934", + "upstreamId": "201142|231839|264585|332444|359214|361120|361121|361122|361124|361127|361130|361140|361141|361142|361146|361147|361149|361150|361155|608933|608934", "text": "intellectual deficiency" }, { - "baseId": "201179|201194|205231|264065|282640|282677|284326|284539|285543|288937|288967|288979|316394|316408|320150|320157|323800|323825|323870|331227", + "upstreamId": "201179|201194|205231|264065|282640|282677|284326|284539|285543|288937|288967|288979|316394|316408|320150|320157|323800|323825|323870|331227", "text": "Intellectual Disability, Dominant" }, { - "baseId": "201452", + "upstreamId": "201452", "text": "SCN1A Seizure Disorders" }, { - "baseId": "201881|202181|203013|516418|551735", + "upstreamId": "201881|202181|203013|516418|551735", "text": "Lennox-Gastaut syndrome" }, { - "baseId": "202181|653823", + "upstreamId": "202181|653823", "text": "Severe neurodevelopmental delay" }, { - "baseId": "202254|305050|305052|308787|308789|308790|313900|313966|313968|313970|314028|314029|314034|353837|353838|464434|464437|464567|528332|528333|528814|528857|568338|568345|569082|577379|581792|642789|642790|642791|703027|703028|760358|787889|841908|841909|841910|841911|841912|927197|936766|936767|936768|948726|957341|957342", + "upstreamId": "202254|305050|305052|308787|308789|308790|313900|313966|313968|313970|314028|314029|314034|353837|353838|464434|464437|464567|528332|528333|528814|528857|568338|568345|569082|577379|581792|642789|642790|642791|703027|703028|760358|787889|841908|841909|841910|841911|841912|927197|936766|936767|936768|948726|957341|957342", "text": "Nocturnal frontal lobe epilepsy" }, { - "baseId": "202264|551694", + "upstreamId": "202264|551694", "text": "myoclonic epilepsy" }, { - "baseId": "202291", + "upstreamId": "202291", "text": "Photosensitive tonic-clonic seizures" }, { - "baseId": "202332", + "upstreamId": "202332", "text": "STXBP1-associated neurodevelopmental disorder" }, { - "baseId": "202626", + "upstreamId": "202626", "text": "Epileptic encephalopathy, early infantile, 3" }, { - "baseId": "202926|861053", + "upstreamId": "202926|861053", "text": "Childhood myocerebrohepatopathy spectrum" }, { - "baseId": "203048|400552", + "upstreamId": "203048|400552", "text": "Primary progressive multiple sclerosis" }, { - "baseId": "203699|243873", + "upstreamId": "203699|243873", "text": "Continuous spike and waves during slow-wave sleep syndrome" }, { - "baseId": "203726|623231|801183", + "upstreamId": "203726|623231|801183", "text": "Limb dystonia" }, { - "baseId": "203840|203843", + "upstreamId": "203840|203843", "text": "Progressive neurologic deterioration" }, { - "baseId": "203840|203843", + "upstreamId": "203840|203843", "text": "Difficulty standing" }, { - "baseId": "203897|203912", + "upstreamId": "203897|203912", "text": "sporadic NAFE" }, { - "baseId": "203912|203950", + "upstreamId": "203912|203950", "text": "Neurodevelopmental disorder with epilepsy" }, { - "baseId": "203913", + "upstreamId": "203913", "text": "Familial GGE" }, { - "baseId": "204032|263371", + "upstreamId": "204032|263371", "text": "Speech apraxia" }, { - "baseId": "204306|204307|204308|204309|204310|204311|204312|204313|217239|481060|481061|481062|481063|481064|481069|481070|481072|609006|679835|745640|798456|963077|973108", + "upstreamId": "204306|204307|204308|204309|204310|204311|204312|204313|217239|481060|481061|481062|481063|481064|481069|481070|481072|609006|679835|745640|798456|963077|973108", "text": "Robinow syndrome, autosomal dominant 2" }, { - "baseId": "204353|204354", + "upstreamId": "204353|204354", "text": "Maturity-onset diabetes of the young, type 14" }, { - "baseId": "204355|204357|204358", + "upstreamId": "204355|204357|204358", "text": "Barber-Say syndrome" }, { - "baseId": "204356", + "upstreamId": "204356", "text": "Ablepharon macrostomia syndrome" }, { - "baseId": "204390|205762|441330|459438|459443|459444|459535|459999|460001|524527|524830|524937|524939|525087|525090|563212|563214|563216|563927|563941|565878|565882|565883|569005|569006|577120|612285|638210|638211|638212|638213|638214|638215|692663|700985|836071|836072|836073|836074|836075|925566|925567|934741|934742|934743|934744|934745|946597|946598", + "upstreamId": "204390|205762|441330|459438|459443|459444|459535|459999|460001|524527|524830|524937|524939|525087|525090|563212|563214|563216|563927|563941|565878|565882|565883|569005|569006|577120|612285|638210|638211|638212|638213|638214|638215|692663|700985|836071|836072|836073|836074|836075|925566|925567|934741|934742|934743|934744|934745|946597|946598", "text": "Distal spinal muscular atrophy, autosomal recessive 2" }, { - "baseId": "204406", + "upstreamId": "204406", "text": "Deafness, autosomal recessive 104" }, { - "baseId": "204433|204434|204438|205693|205694|205695|205696|205697|205698|213956|583077|788729|789872|789873|789874|789875|789876|966069|966070|966071", + "upstreamId": "204433|204434|204438|205693|205694|205695|205696|205697|205698|213956|583077|788729|789872|789873|789874|789875|789876|966069|966070|966071", "text": "Achromatopsia 7" }, { - "baseId": "204458|439706|439707|439708|439709|439710|439711|439712|439713", + "upstreamId": "204458|439706|439707|439708|439709|439710|439711|439712|439713", "text": "Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia" }, { - "baseId": "204462", + "upstreamId": "204462", "text": "Pazopanib response" }, { - "baseId": "204521|204522|204523|204524|204525|204526|204527|204528|204529|204530", + "upstreamId": "204521|204522|204523|204524|204525|204526|204527|204528|204529|204530", "text": "Glycogen content in skeletal muscle, increased" }, { - "baseId": "204609|204610|204611|204612|204613|204614|204615|204616|204617|204618|204619|204620|204621|204622|204623|204624|204625|204626|204627|204628|204629", + "upstreamId": "204609|204610|204611|204612|204613|204614|204615|204616|204617|204618|204619|204620|204621|204622|204623|204624|204625|204626|204627|204628|204629", "text": "Childhood-Onset Schizophrenia" }, { - "baseId": "204637|204638|204639|204640", + "upstreamId": "204637|204638|204639|204640", "text": "intellectual disability with severe speech impairment" }, { - "baseId": "204637|204638|204639|204640|206661|206662|583119|815999|919489|919490", + "upstreamId": "204637|204638|204639|204640|206661|206662|583119|815999|919489|919490", "text": "Mental retardation, autosomal dominant 40" }, { - "baseId": "204642|275535", + "upstreamId": "204642|275535", "text": "Developmental dyslexia" }, { - "baseId": "204646|204647|237152|362360|383518|481309|583083|608802|608860|626121|654116|790142|918714|961592|961593|963515|964187|964651|965454|970729|972711", + "upstreamId": "204646|204647|237152|362360|383518|481309|583083|608802|608860|626121|654116|790142|918714|961592|961593|963515|964187|964651|965454|970729|972711", "text": "Mental retardation, autosomal dominant 39" }, { - "baseId": "204975|204976|805052|805053|858583", + "upstreamId": "204975|204976|805052|805053|858583", "text": "Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis" }, { - "baseId": "204977|227320|920331", + "upstreamId": "204977|227320|920331", "text": "Nonmedullary thyroid carcinoma 1" }, { - "baseId": "204978", + "upstreamId": "204978", "text": "Thyroid cancer, nonmedullary, 4" }, { - "baseId": "204979|486801", + "upstreamId": "204979|486801", "text": "Herpes simplex encephalitis, susceptibility to, 7" }, { - "baseId": "205022|514092", + "upstreamId": "205022|514092", "text": "Transient ischemic attack" }, { - "baseId": "205031", + "upstreamId": "205031", "text": "Aplasia/Hypoplasia of the thumb" }, { - "baseId": "205031", + "upstreamId": "205031", "text": "Multiple skeletal anomalies" }, { - "baseId": "205041|205042|205043|205044|297332|481298|481299|481300|481301|481302|481303|481304|481305|481306|481307|512580|583135|792693|792694|792695|792696|792697|792698|792699|798803|919972|961658|972734", + "upstreamId": "205041|205042|205043|205044|297332|481298|481299|481300|481301|481302|481303|481304|481305|481306|481307|512580|583135|792693|792694|792695|792696|792697|792698|792699|798803|919972|961658|972734", "text": "Mental retardation, X-linked 12" }, { - "baseId": "205045|205046|205047|790663", + "upstreamId": "205045|205046|205047|790663", "text": "Congenital anomalies of kidney and urinary tract type 2" }, { - "baseId": "205051|205052|205053|205054|205055|205056", + "upstreamId": "205051|205052|205053|205054|205055|205056", "text": "Spinocerebellar ataxia, X-linked" }, { - "baseId": "205144|205144|260877|486672|486673|486674|561972|799347|799348|980914", + "upstreamId": "205144|205144|260877|486672|486673|486674|561972|799347|799348|980914", "text": "Amyotrophic lateral sclerosis, susceptibility to, 24" }, { - "baseId": "205181|514063|682738", + "upstreamId": "205181|514063|682738", "text": "Hypokalemia" }, { - "baseId": "205181|514063", + "upstreamId": "205181|514063", "text": "Hypermagnesemia" }, { - "baseId": "205197|205198|855088|855091|855092|855093|855094|855095|855096|962246", + "upstreamId": "205197|205198|855088|855091|855092|855093|855094|855095|855096|962246", "text": "Developmental and epileptic encephalopathy, 85, with or without midline brain defects" }, { - "baseId": "205199|205200|205201|205202|205203|205204|575497|575498|575510|575516|578507|622420|918387|919493|974497", + "upstreamId": "205199|205200|205201|205202|205203|205204|575497|575498|575510|575516|578507|622420|918387|919493|974497", "text": "Combined oxidative phosphorylation deficiency 31" }, { - "baseId": "205199|205200|205201|205202|205203|205204|205205|226502|426751|514079|550131", + "upstreamId": "205199|205200|205201|205202|205203|205204|205205|226502|426751|514079|550131", "text": "Infantile muscular hypotonia" }, { - "baseId": "205208|320553|320594|329361|337894|399643|400207|400211|445230|464041|464044|528518|550273|550277|566413", + "upstreamId": "205208|320553|320594|329361|337894|399643|400207|400211|445230|464041|464044|528518|550273|550277|566413", "text": "Spermatogenic failure 28" }, { - "baseId": "205216|226496|226497|226498|226499|226502|424605|511195|609017|621936|626101|800980|964137|964797|983663|983664", + "upstreamId": "205216|226496|226497|226498|226499|226502|424605|511195|609017|621936|626101|800980|964137|964797|983663|983664", "text": "Mental retardation, autosomal dominant 42" }, { - "baseId": "205216|226495|226496|226497|226498|226499|226500|226501|226502", + "upstreamId": "205216|226495|226496|226497|226498|226499|226500|226501|226502", "text": "Neurodevelopmental Disability" }, { - "baseId": "205216|226495|226496|226497|226498|226499|226500|226501|226502|792733|918499", + "upstreamId": "205216|226495|226496|226497|226498|226499|226500|226501|226502|792733|918499", "text": "hypotonia" }, { - "baseId": "205216", + "upstreamId": "205216", "text": "LEUKEMIA, CHRONIC LYMPHOCYTIC, SOMATIC" }, { - "baseId": "205216|210875|225802|225854|227575|362296|362313|424629|512101|513423|576122|623669|623670|623672|623674|623677|623678|623679|623680|623682|623683|623684|623686|623688|623689|623690|623691|623692|623693|623694|623697|623698|623699|623701|623702|623703|623704|623706|623707|623708|623709|623710|623711|623712|623713|623714|623715|623716|623718|623719|623720|623722|623723|623725|623727|623729|623730|623732|623738|623739|623740|623742|623743|623744|623745|623746|623747|623748|623749|623750|623751|623752|623753|623754|623755|623756|623757|623759|623761|623762|623764|623767|623768|623769|623771|623772|623773|677427|679241|679242|679243|679244|679245|679246|679247|679791|743180|788958|788959|788960|788961|788962|789343|792776|857334|857335|857336|857337|857338|857339|857340|857341|857342|857343|857344|861271|861569|904877|916784|916786|916789|917227|918245|918283|918302|921257|969483|969485|969486|969487|969488|970259|970273|970274|970275|970276|970277|970278|970279|970280|970281|970282|970283|970284|970285|970286|970287|970288|970289|970290|970291|970292|970293|970294|970295|970296|970297|970298|970338|970342|970673|970678|970684|970690|970698|970703|970757|970771|970774|970802|970867|970916|970921|970975|971003|971015|971021|971047|971049|971071|971075|971106|971107|971108|971109|971123|971140|971141|971154|971158|971168|971173|971186|971193|971199|971223|973044|974486", + "upstreamId": "205216|210875|225802|225854|227575|362296|362313|424629|512101|513423|576122|623669|623670|623672|623674|623677|623678|623679|623680|623682|623683|623684|623686|623688|623689|623690|623691|623692|623693|623694|623697|623698|623699|623701|623702|623703|623704|623706|623707|623708|623709|623710|623711|623712|623713|623714|623715|623716|623718|623719|623720|623722|623723|623725|623727|623729|623730|623732|623738|623739|623740|623742|623743|623744|623745|623746|623747|623748|623749|623750|623751|623752|623753|623754|623755|623756|623757|623759|623761|623762|623764|623767|623768|623769|623771|623772|623773|677427|679241|679242|679243|679244|679245|679246|679247|679791|743180|788958|788959|788960|788961|788962|789343|792776|857334|857335|857336|857337|857338|857339|857340|857341|857342|857343|857344|861271|861569|904877|916784|916786|916789|917227|918245|918283|918302|921257|969483|969485|969486|969487|969488|970259|970273|970274|970275|970276|970277|970278|970279|970280|970281|970282|970283|970284|970285|970286|970287|970288|970289|970290|970291|970292|970293|970294|970295|970296|970297|970298|970338|970342|970673|970678|970684|970690|970698|970703|970757|970771|970774|970802|970867|970916|970921|970975|971003|971015|971021|971047|971049|971071|971075|971106|971107|971108|971109|971123|971140|971141|971154|971158|971168|971173|971186|971193|971199|971223|973044|974486", "text": "Neurodevelopmental disorder" }, { - "baseId": "205218|215784|405057|425337|480736|480738|654113|970676", + "upstreamId": "205218|215784|405057|425337|480736|480738|654113|970676", "text": "Takenouchi-Kosaki syndrome" }, { - "baseId": "205253|522909|625144|969586", + "upstreamId": "205253|522909|625144|969586", "text": "Spinal muscular atrophy, infantile, James type" }, { - "baseId": "205277|214788|214789|390060|390109|462348|462357|462364|462631|463076|463220|463221|463226|526878|527278|527292|527294|527295|527297|527557|527822|527828|527829|565016|565634|565636|565640|566961|566963|568135|571942|571944|614380|624459|624461|641283|641284|641285|641286|641287|641288|641289|641290|641291|641292|641293|641294|641295|652186|652494|702426|702427|713645|738759|769230|769231|769233|787883|840112|840113|840114|840115|840116|840117|840118|840119|840120|840121|840122|840123|840124|926684|926685|936196|936197|936198|936199|936200|936201|936202|948110|948111|956908|956909|964926|965347", + "upstreamId": "205277|214788|214789|390060|390109|462348|462357|462364|462631|463076|463220|463221|463226|526878|527278|527292|527294|527295|527297|527557|527822|527828|527829|565016|565634|565636|565640|566961|566963|568135|571942|571944|614380|624459|624461|641283|641284|641285|641286|641287|641288|641289|641290|641291|641292|641293|641294|641295|652186|652494|702426|702427|713645|738759|769230|769231|769233|787883|840112|840113|840114|840115|840116|840117|840118|840119|840120|840121|840122|840123|840124|926684|926685|936196|936197|936198|936199|936200|936201|936202|948110|948111|956908|956909|964926|965347", "text": "Immunodeficiency 44" }, { - "baseId": "205306|481272|481273|481274|481275|481276|551303|551321|677329|791801|797583|800057|805961|919753|962055|965892|972730|976669", + "upstreamId": "205306|481272|481273|481274|481275|481276|551303|551321|677329|791801|797583|800057|805961|919753|962055|965892|972730|976669", "text": "Intellectual disability, autosomal dominant 56" }, { - "baseId": "205317", + "upstreamId": "205317", "text": "Tonic-clonic epilepsy" }, { - "baseId": "205317", + "upstreamId": "205317", "text": "Unilateral Hypotonia" }, { - "baseId": "205317|230984", + "upstreamId": "205317|230984", "text": "Mental Retardation, Psychosocial" }, { - "baseId": "205332|205359|205360|205362|205363|205364|205365|205366|205367|379026|471347|472076|535063|535065|535066|573631|575346|575347|649752|694806|939463|951634", + "upstreamId": "205332|205359|205360|205362|205363|205364|205365|205366|205367|379026|471347|472076|535063|535065|535066|573631|575346|575347|649752|694806|939463|951634", "text": "X-linked myopathy with excessive autophagy" }, { - "baseId": "205352|420004|420005|420006|626301|677474|679332|792638|792639|792640|920061", + "upstreamId": "205352|420004|420005|420006|626301|677474|679332|792638|792639|792640|920061", "text": "Intellectual disability, X-linked 106" }, { - "baseId": "205385|205386|226589|226591", + "upstreamId": "205385|205386|226589|226591", "text": "Acute rhabdomyolysis" }, { - "baseId": "205385|205386|226589|226591", + "upstreamId": "205385|205386|226589|226591", "text": "Episodic flaccid weakness" }, { - "baseId": "205385|205386|226589|226591|226592|226593|378630|608879|792019|802233|904183|904184|972732", + "upstreamId": "205385|205386|226589|226591|226592|226593|378630|608879|792019|802233|904183|904184|972732", "text": "METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION" }, { - "baseId": "205404|226149|538497|578583|578584|581233|581234|622481|758004|788945|798769|805043|805044", + "upstreamId": "205404|226149|538497|578583|578584|581233|581234|622481|758004|788945|798769|805043|805044", "text": "Klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism" }, { - "baseId": "205532|205533|919254|919255|919256|920278", + "upstreamId": "205532|205533|919254|919255|919256|920278", "text": "Epithelial recurrent erosion dystrophy" }, { - "baseId": "205538|205539|426175|429831|429833|429836|429837|465817|465820|466516|466519|466553|466801|530099|530103|530106|530110|530208|530423|530644|530645|568210|568212|570330|570334|570338|570349|570351|574101|644805|644806|644807|644808|644809|644810|644811|644812|653283|726738|731088|731089|771003|776191|844090|844091|844092|844093|844094|844095|844096|844097|844098|844099|844100|844101|844102|844103|844104|844105|844106|850420|850421|927883|927884|927885|929859|937529|937530|937531|937532|937533|937534|939724|949476|949477|951929|951930|957831|957832|959406|959407|962179", + "upstreamId": "205538|205539|426175|429831|429833|429836|429837|465817|465820|466516|466519|466553|466801|530099|530103|530106|530110|530208|530423|530644|530645|568210|568212|570330|570334|570338|570349|570351|574101|644805|644806|644807|644808|644809|644810|644811|644812|653283|726738|731088|731089|771003|776191|844090|844091|844092|844093|844094|844095|844096|844097|844098|844099|844100|844101|844102|844103|844104|844105|844106|850420|850421|927883|927884|927885|929859|937529|937530|937531|937532|937533|937534|939724|949476|949477|951929|951930|957831|957832|959406|959407|962179", "text": "Dyskeratosis congenita, autosomal dominant 6" }, { - "baseId": "205538|205539", + "upstreamId": "205538|205539", "text": "Dyskeratosis congenita, autosomal recessive 7" }, { - "baseId": 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+ "upstreamId": "205551|274984|424401|452592|452593|452598|452600|452601|452607|452608|452621|452626|452631|452633|452636|452638|452644|452651|452653|452655|452657|452659|452663|452664|452667|452675|452679|452680|452682|452683|452686|452687|452689|452691|452875|452878|452880|452881|452884|452888|452891|452892|452894|452896|452897|452901|452903|452907|452908|452913|452915|452916|452917|452920|452923|452924|452925|452926|452927|452929|452930|452932|452933|452934|452935|452937|452938|452939|452941|452944|452945|452946|452947|452948|452951|452953|452955|452963|452964|452966|452969|452970|452971|452973|452974|452975|452976|452977|452978|452982|452984|452986|452988|452994|452996|452997|453006|453007|453008|453016|453018|453026|453030|453032|453033|453144|453146|453151|453155|453160|453163|453170|453176|453188|453190|453191|453194|453195|453207|453210|453212|453214|453220|453221|453222|453238|453247|453251|453253|453256|453258|453261|453270|453281|453289|453296|453314|453316|453319|453320|453325|453328|519458|519463|519467|519476|519480|519482|519484|519485|519486|519487|519488|519490|519491|519493|519495|519496|519499|519504|519505|519506|519508|519509|519511|519512|519517|519519|519520|519521|519522|519527|519529|519531|519534|519535|519537|519546|519553|519555|519559|519560|519563|519568|519573|519579|519583|519653|519655|519662|519664|519675|519679|519683|519696|519698|519704|519709|519711|519713|519715|519716|519720|519722|519724|519727|519744|519746|519749|519755|519757|519762|519764|519766|519769|519770|519775|519777|519781|519783|519787|519791|519793|519797|519799|519801|559076|559078|559080|559082|559084|559086|559088|559090|559092|559094|559096|559606|559608|559610|559612|559614|559616|559618|559620|559622|559624|559626|559628|559630|559632|559634|559636|561704|561709|561710|561712|561717|561722|561723|561726|561730|561744|561745|561750|563162|563167|563169|563174|563177|563186|563192|563193|563197|563204|631628|631629|631630|631631|631632|631633|631634|631635|631636|631637|631638|631639|631640|631641|631642|631643|631644|631645|631646|631647|631648|631649|631650|631651|631652|631653|631654|631655|631656|631657|631658|631659|631660|631661|631662|631663|631664|631665|631666|631667|631668|631669|631670|631671|631672|631673|631674|631675|631676|631677|631678|631679|631680|631681|631682|631683|631684|631685|631686|631687|631688|631689|631690|631691|631692|631693|631694|631695|631696|631697|691457|691458|691459|691460|691461|691462|691463|691464|691465|691466|691467|691468|695212|695213|698199|698202|698203|698204|698205|698206|698207|698209|698210|698212|698213|698215|698217|698219|698220|698221|698222|698223|708960|708961|708964|708965|708968|708970|708971|720554|720555|720556|720557|720558|720560|720562|720563|720565|720566|734192|734196|734198|734200|734203|743942|744030|748413|748418|748419|748421|748426|759217|759227|764056|764059|764060|764066|764067|764071|764077|774864|777264|777267|777383|779070|781759|781761|781767|781771|828408|828409|828410|828411|828412|828413|828414|828415|828416|828417|828418|828419|828420|828421|828422|828423|828424|828425|828426|828427|828428|828429|828430|828431|828432|828433|828434|828435|828436|828437|828438|828439|828440|828441|828442|828443|828444|828445|828446|828447|828448|828449|828450|828451|828452|828453|850956|851067|851572|851574|857588|857589|923285|923286|923287|923288|923289|923290|923291|923292|923293|923294|923295|923296|923297|923298|923299|923300|923301|923302|932040|932041|932042|932043|932044|932045|932046|932047|932048|932049|932050|932051|932052|932053|940760|943650|943651|943652|943653|943654|943655|943656|943657|943658|943659|943660|943661|943662|943663|943664|943665|943666|943667|953562|953563|953564|953565|953566|953567|953568|959704", "text": "Ciliary dyskinesia, primary, 37" }, { - "baseId": "205553|205554|205555|788391", + "upstreamId": "205553|205554|205555|788391", "text": "Ciliary dyskinesia, primary, 42" }, { - "baseId": "205598", + "upstreamId": "205598", "text": "Chondrodysplasia punctata 2, X-linked dominant, atypical" }, { - "baseId": "205664", + "upstreamId": "205664", "text": "HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT, WITH MELNICK-NEEDLES SYNDROME" }, { - "baseId": "205685|205685|205686|205686|205687|274206|360505|424904|427124|442566|550231|553084|622739|622740|788944|966805|972527", + "upstreamId": "205685|205685|205686|205686|205687|274206|360505|424904|427124|442566|550231|553084|622739|622740|788944|966805|972527", "text": "Noonan syndrome 10" }, { - "baseId": "205688|205689|264699|360061|360159|363735|364005|373101|373104|373107|373852|373856|376070|409125|409127|438761|439007|439099|442557|463255|463257|463275|463276|463280|463286|463287|463289|463782|463785|463787|463795|463796|464103|464108|464120|464125|464126|464275|464277|464279|464281|464283|464285|464289|481139|486105|487787|504561|504784|505464|511014|528171|528183|528188|528190|528193|528196|528198|528522|528536|528537|528545|528650|528661|528664|528667|552775|566480|566482|566487|568917|568922|568928|568929|568931|572804|572805|572806|642470|642471|642472|642473|642474|642475|642476|642477|642478|642479|642480|642481|642482|652556|672277|693500|693504|693505|693507|693508|693509|695619|695620|702890|702891|725675|799765|820623|841525|841526|841527|841528|841529|841530|841531|841532|841533|841534|841535|841536|852741|927082|927083|927084|927085|927086|927087|927088|927089|927090|927091|936629|936630|936631|940303|940304|941061|948575|948576|948577|948578|957224|957225|957226|957227|957228|962887|962888|964415", + "upstreamId": "205688|205689|264699|360061|360159|363735|364005|373101|373104|373107|373852|373856|376070|409125|409127|438761|439007|439099|442557|463255|463257|463275|463276|463280|463286|463287|463289|463782|463785|463787|463795|463796|464103|464108|464120|464125|464126|464275|464277|464279|464281|464283|464285|464289|481139|486105|487787|504561|504784|505464|511014|528171|528183|528188|528190|528193|528196|528198|528522|528536|528537|528545|528650|528661|528664|528667|552775|566480|566482|566487|568917|568922|568928|568929|568931|572804|572805|572806|642470|642471|642472|642473|642474|642475|642476|642477|642478|642479|642480|642481|642482|652556|672277|693500|693504|693505|693507|693508|693509|695619|695620|702890|702891|725675|799765|820623|841525|841526|841527|841528|841529|841530|841531|841532|841533|841534|841535|841536|852741|927082|927083|927084|927085|927086|927087|927088|927089|927090|927091|936629|936630|936631|940303|940304|941061|948575|948576|948577|948578|957224|957225|957226|957227|957228|962887|962888|964415", "text": "Noonan syndrome 9" }, { - "baseId": "205690|205691|205692|456134", + "upstreamId": "205690|205691|205692|456134", "text": "Glioma susceptibility 9" }, { - "baseId": "205707|359048|359049|359050|359051|964900|972456|974877|975715", + "upstreamId": "205707|359048|359049|359050|359051|964900|972456|974877|975715", "text": "Congenital disorder of glycosylation type 1y" }, { - "baseId": "205708|205709|205710|205711|205712|205713|205714|205715|226778|226779|226786|422400", + "upstreamId": "205708|205709|205710|205711|205712|205713|205714|205715|226778|226779|226786|422400", "text": "CLCN4-related disorder" }, { - "baseId": "205729|243941|243942|243943|243944|243945|260375|260376|390649|390650|414917|425531|608947|608948|800392|827639|961026|970758", + "upstreamId": "205729|243941|243942|243943|243944|243945|260375|260376|390649|390650|414917|425531|608947|608948|800392|827639|961026|970758", "text": "Charcot-Marie-Tooth disease, axonal, type 2T" }, { - "baseId": "205735|207496|253010|361357|425459|446888|513538|610599|610600|610601|610602|610603|610604|610605|610606|610607|610608|798956|918835|918836|961970|965341|965343", + "upstreamId": "205735|207496|253010|361357|425459|446888|513538|610599|610600|610601|610602|610603|610604|610605|610606|610607|610608|798956|918835|918836|961970|965341|965343", "text": "Systemic lupus erythematosus" }, { - "baseId": "205751", + "upstreamId": "205751", "text": "Autosomal recessive AGK-related phenotype" }, { - "baseId": "205780|260116|422096|512202|582444|610488|610492", + "upstreamId": "205780|260116|422096|512202|582444|610488|610492", "text": "Menke-Hennekam syndrome 1" }, { - "baseId": "205802|361919|613993", + "upstreamId": "205802|361919|613993", "text": "Chromosome 17q12 deletion syndrome" }, { - "baseId": "205803|205804", + "upstreamId": "205803|205804", "text": "Macrocytic dyserythropoietic anemia" }, { - "baseId": "206613|788942|848626", + "upstreamId": "206613|788942|848626", "text": "Progressive bulbar palsy of childhood" }, { - "baseId": "206661|206662|214566|214568|214571|264510|495565|514653|796914|815999|972844|972968|972969", + "upstreamId": "206661|206662|214566|214568|214571|264510|495565|514653|796914|815999|972844|972968|972969", "text": "CHAMP1-related syndrome" }, { - "baseId": "206679|206680|206681|424449|438672|612142|612176|698319|720688|815903|961982|961983|964657|970782|971539|981441", + "upstreamId": "206679|206680|206681|424449|438672|612142|612176|698319|720688|815903|961982|961983|964657|970782|971539|981441", "text": "Immunodeficiency, common variable, 12" }, { - "baseId": "206712", + "upstreamId": "206712", "text": "Stenosis of the external auditory canal" }, { - "baseId": "206712|263421", + "upstreamId": "206712|263421", "text": "Malar flattening" }, { - "baseId": "206712|263270", + "upstreamId": "206712|263270", "text": "Midface retrusion" }, { - "baseId": "206712|263322|361071|408757|514005|514187|682749|805096|920517", + "upstreamId": "206712|263322|361071|408757|514005|514187|682749|805096|920517", "text": "Micrognathia" }, { - "baseId": "206820", + "upstreamId": "206820", "text": "Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3" }, { - "baseId": "206864|360820|361025|361047|513943", + "upstreamId": "206864|360820|361025|361047|513943", "text": "Limb pain" }, { - "baseId": "207153|226418|538607|966332|966334", + "upstreamId": "207153|226418|538607|966332|966334", "text": "Myelodysplasia" }, { - "baseId": "207165|256466|297145|322262|330265|330616|330632|331573|331577|340236|340237|340242|340467|340885|340921|346183|346464|346475|346542|347494|347500|347830|347842|353319|353463|353474|353475", + "upstreamId": "207165|256466|297145|322262|330265|330616|330632|331573|331577|340236|340237|340242|340467|340885|340921|346183|346464|346475|346542|347494|347500|347830|347842|353319|353463|353474|353475", "text": "Dyskeratosis Congenita, Recessive" }, { - "baseId": "207209|226415|226416|226417|226418|226419|428396|428398|428400|428401|965623", + "upstreamId": "207209|226415|226416|226417|226418|226419|428396|428398|428400|428401|965623", "text": "Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to" }, { - "baseId": "207705|207707", + "upstreamId": "207705|207707", "text": "Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1" }, { - "baseId": "207729", + "upstreamId": "207729", "text": "Spinal muscular atrophy, lower extremity-predominant, 2, AD" }, { - "baseId": "207729|407722|608895", + "upstreamId": "207729|407722|608895", "text": "Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant" }, { - "baseId": "208267|425950", + "upstreamId": "208267|425950", "text": "Kabuki-like syndrome" }, { - "baseId": "208463|430075|430076|430078", + "upstreamId": "208463|430075|430076|430078", "text": "Obesity, autosomal dominant" }, { - "baseId": "208704|353974", + "upstreamId": "208704|353974", "text": "Benign Rolandic epilepsy" }, { - "baseId": "208713|243606|243619|243620|257452|336677|336686|336699|336711|336717|336736|336740|336742|346357|346369|346386|350599|350602|350609|350615|350616|350619|350623|350626|351666|351667|351675|351677|351679|351686|362898|362899|362900|362901|403736|404243|404263|430418|469592|469595|470630|470637|470649|471193|471194|471618|471631|533846|533849|533863|533873|533875|552358|552360|552361|552363|552366|552367|552378|552380|552382|552390|552391|552392|571520|571527|573128|648982|653667|653831|984020", + "upstreamId": "208713|243606|243619|243620|257452|336677|336686|336699|336711|336717|336736|336740|336742|346357|346369|346386|350599|350602|350609|350615|350616|350619|350623|350626|351666|351667|351675|351677|351679|351686|362898|362899|362900|362901|403736|404243|404263|430418|469592|469595|470630|470637|470649|471193|471194|471618|471631|533846|533849|533863|533873|533875|552358|552360|552361|552363|552366|552367|552378|552380|552382|552390|552391|552392|571520|571527|573128|648982|653667|653831|984020", "text": "Hereditary thrombocytopenia and hematologic cancer predisposition syndrome" }, { - "baseId": "208809|208816", + "upstreamId": "208809|208816", "text": "Microcephaly and chorioretinopathy with or without mental retardation" }, { - "baseId": "208841|208843|208844|208846|208847|208848|208849|208850|208851|208852", + "upstreamId": "208841|208843|208844|208846|208847|208848|208849|208850|208851|208852", "text": "Abnormal cortical gyration" }, { - "baseId": "209077|215663|552261", + "upstreamId": "209077|215663|552261", "text": "Cerebral-cerebellar-coloboma syndrome, X-linked" }, { - "baseId": "209199", + "upstreamId": "209199", "text": "Alpha-thalassemia/mental retardation syndrome" }, { - "baseId": "209332", + "upstreamId": "209332", "text": "JOUBERT SYNDROME 29" }, { - "baseId": "209332|424234", + "upstreamId": "209332|424234", "text": "Orofaciodigital syndrome 16" }, { - "baseId": "209338", + "upstreamId": "209338", "text": "Intellectual disability (severe)" }, { - "baseId": "209387|209388|209389|209390|209391|247637|247638|509029|509030|509031|509032|719875", + "upstreamId": "209387|209388|209389|209390|209391|247637|247638|509029|509030|509031|509032|719875", "text": "Short-rib thoracic dysplasia 15 with polydactyly" }, { - "baseId": "209387|209388|209389|209390|209391|260921|538980|622504", + "upstreamId": "209387|209388|209389|209390|209391|260921|538980|622504", "text": "Short-rib thoracic dysplasia 1 with or without polydactyly" }, { - "baseId": "209407|209408|222923|264416|444519|444522|495041|495042|495043|495044|513434|612480|613506|654134|677304|792606|794090|806407|920276", + "upstreamId": "209407|209408|222923|264416|444519|444522|495041|495042|495043|495044|513434|612480|613506|654134|677304|792606|794090|806407|920276", "text": "AU-KLINE SYNDROME" }, { - "baseId": "209809", + "upstreamId": "209809", "text": "Brain Aneurysm" }, { - "baseId": "209858|209860|239862|298319|298323|298324|298325|298328|298331|298335|298336|298339|298340|298348|298354|300625|300626|300636|300637|300639|300640|304909|304910|304913|304923|304948|304960|304961|304962|304965|304969|304972|304988|304989|305124|305125|305133|305146|305149|305150|305151|305155|305168|305169|305172|305175|305183|305187", + "upstreamId": "209858|209860|239862|298319|298323|298324|298325|298328|298331|298335|298336|298339|298340|298348|298354|300625|300626|300636|300637|300639|300640|304909|304910|304913|304923|304948|304960|304961|304962|304965|304969|304972|304988|304989|305124|305125|305133|305146|305149|305150|305151|305155|305168|305169|305172|305175|305183|305187", "text": "Parkes Weber syndrome" }, { - "baseId": "209858|239859|239862|264245|268905|298323|298331|300626|300636|300637|304910|304948|304960|304962|305146|305149|394972|394975|394981|395146|395158|433889|455253|455715|455728|455733|455972|455985|455988|495239|521262|521542|521553|521608|521869|609600|609603|609604|634453|634455|634460|651267|683742|683743|683744|683745|683746|683747|686767|686768|689800|699206|765368|779142|831235|831236|831237|831238|831239|831240|831241|831242|831243|831244|831245|831246|831247|851048|851050|852224|924180|924181|924182|924183|924184|924185|924186|924187|924188|933051|933052|933053|933054|933055|933056|933057|933058|933059|933060|933061|933062|940019|940827|944762|944763|944764|944765|944766|944767|944768|954263|954264|954265|954266|954267|959781", + "upstreamId": "209858|239859|239862|264245|268905|298323|298331|300626|300636|300637|304910|304948|304960|304962|305146|305149|394972|394975|394981|395146|395158|433889|455253|455715|455728|455733|455972|455985|455988|495239|521262|521542|521553|521608|521869|609600|609603|609604|634453|634455|634460|651267|683742|683743|683744|683745|683746|683747|686767|686768|689800|699206|765368|779142|831235|831236|831237|831238|831239|831240|831241|831242|831243|831244|831245|831246|831247|851048|851050|852224|924180|924181|924182|924183|924184|924185|924186|924187|924188|933051|933052|933053|933054|933055|933056|933057|933058|933059|933060|933061|933062|940019|940827|944762|944763|944764|944765|944766|944767|944768|954263|954264|954265|954266|954267|959781", "text": "Capillary malformation-arteriovenous malformation" }, { - "baseId": "209918|311722|407257|522812|613855|613933|613934|613935|613936|818713|919114|919115|920245|966542", + "upstreamId": "209918|311722|407257|522812|613855|613933|613934|613935|613936|818713|919114|919115|920245|966542", "text": "Williams syndrome" }, { - "baseId": "210238", + "upstreamId": "210238", "text": "Epistaxis" }, { - "baseId": "210644|364851", + "upstreamId": "210644|364851", "text": "ADCK3-Related Disorders" }, { - "baseId": "210790|285147|285164|285783|285810|288120|353561", + "upstreamId": "210790|285147|285164|285783|285810|288120|353561", "text": "Thiamine Metabolism Dysfunction Syndrome" }, { - "baseId": "210897|247473", + "upstreamId": "210897|247473", "text": "Portal hypertension, noncirrhotic" }, { - "baseId": "210898", + "upstreamId": "210898", "text": "Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency" }, { - "baseId": "211110|211112", + "upstreamId": "211110|211112", "text": "Cystic Leukoencephalopathy" }, { - "baseId": "211259|211261|247571|481197|481208|481210|536153|578614", + "upstreamId": "211259|211261|247571|481197|481208|481210|536153|578614", "text": "Spastic paraplegia 77, autosomal recessive" }, { - "baseId": "211320", + "upstreamId": "211320", "text": "Severe lactic acidosis" }, { - "baseId": "211570|315359|329611", + "upstreamId": "211570|315359|329611", "text": "Optic Atrophy, Recessive" }, { - "baseId": "211614|211619|439516|439517|610426|677437", + "upstreamId": "211614|211619|439516|439517|610426|677437", "text": "Optic atrophy 5" }, { - "baseId": "211827|256339|264339|292955|294312|294313|297750|297774|297785|297790|297874|303732|303737|303738|307196|307236|309188|309201|309206|312159|312174|319813|320336|345482", + "upstreamId": "211827|256339|264339|292955|294312|294313|297750|297774|297785|297790|297874|303732|303737|303738|307196|307236|309188|309201|309206|312159|312174|319813|320336|345482", "text": "Progressive external ophthalmoplegia with mitochondrial DNA deletions" }, { - "baseId": "212720|242329", + "upstreamId": "212720|242329", "text": "B-Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21" }, { - "baseId": "212828|961297", + "upstreamId": "212828|961297", "text": "DYNC2H1-Related Disorder" }, { - "baseId": "212829|265359|393351|440054|440058|440073|440085|440086|440093|440097|440100", + "upstreamId": "212829|265359|393351|440054|440058|440073|440085|440086|440093|440097|440100", "text": "Type IV short rib polydactyly syndrome" }, { - "baseId": "213290|611994", + "upstreamId": "213290|611994", "text": "Ganglioglioma" }, { - "baseId": "213453|683051|683119", + "upstreamId": "213453|683051|683119", "text": "Charcot-Marie-Tooth disease type 5" }, { - "baseId": "213453|439659|625417|791929|791930|971134", + "upstreamId": "213453|439659|625417|791929|791930|971134", "text": "Spinocerebellar ataxia 46" }, { - "baseId": "213602|551712", + "upstreamId": "213602|551712", "text": "Bannayan-Riley-Ruvalcaba syndrome" }, { - "baseId": "213674", + "upstreamId": "213674", "text": "Bleeding disorder platelet type macrothrombocytopenia" }, { - "baseId": "213674|411533|411534|411535|411536|411537|974492|975947", + "upstreamId": "213674|411533|411534|411535|411536|411537|974492|975947", "text": "Bleeding disorder, platelet-type, 21" }, { - "baseId": "213760|213765|213766|413295|434637", + "upstreamId": "213760|213765|213766|413295|434637", "text": "Spastic paraplegia 9b, autosomal recessive" }, { - "baseId": "213760|213762|213763|213903|213904|213905|253951|311782|311783|311800|317399|317414|323424|323434|324069|324070|373610|373621|413295|415242|434637|437871|444691|460344|460358|460416|460700|461164|461165|461169|503312|513599|525626|564063|564950|566648|566650|566654|566655|566660|569906|569909|639320|639321|639322|639323|639324|639325|639326|652348|665615|692902|692903|712533|712534|724130|775702|783785|837521|837522|837523|837524|837525|837526|837527|919307|919308|920290|925986|935257|935258|947157|947158|947159|947160|956289|956290", + "upstreamId": "213760|213762|213763|213903|213904|213905|253951|311782|311783|311800|317399|317414|323424|323434|324069|324070|373610|373621|413295|415242|434637|437871|444691|460344|460358|460416|460700|461164|461165|461169|503312|513599|525626|564063|564950|566648|566650|566654|566655|566660|569906|569909|639320|639321|639322|639323|639324|639325|639326|652348|665615|692902|692903|712533|712534|724130|775702|783785|837521|837522|837523|837524|837525|837526|837527|919307|919308|920290|925986|935257|935258|947157|947158|947159|947160|956289|956290", "text": "Cutis laxa, autosomal dominant 3" }, { - "baseId": "213761|213762|213762|213763|213763|213764|253951|311782|311783|311800|317399|317414|323424|323434|324069|324070|373610|373621|413295|415242|434637|437871|444691|460344|460358|460416|460700|461164|461165|461169|503312|508733|513599|525626|564063|564950|566648|566650|566654|566655|566660|569906|569909|639320|639321|639322|639323|639324|639325|639326|652348|665615|692902|692903|712533|712534|724130|775702|783785|837521|837522|837523|837524|837525|837526|837527|859828|925986|935257|935258|947157|947158|947159|947160|956289|956290", + "upstreamId": "213761|213762|213762|213763|213763|213764|253951|311782|311783|311800|317399|317414|323424|323434|324069|324070|373610|373621|413295|415242|434637|437871|444691|460344|460358|460416|460700|461164|461165|461169|503312|508733|513599|525626|564063|564950|566648|566650|566654|566655|566660|569906|569909|639320|639321|639322|639323|639324|639325|639326|652348|665615|692902|692903|712533|712534|724130|775702|783785|837521|837522|837523|837524|837525|837526|837527|859828|925986|935257|935258|947157|947158|947159|947160|956289|956290", "text": "Hereditary spastic paraplegia 9A" }, { - "baseId": "213762", + "upstreamId": "213762", "text": "ALDH18A1 deficiency" }, { - "baseId": "213776|481265|536058|536061|536062|536063|536064|965283", + "upstreamId": "213776|481265|536058|536061|536062|536063|536064|965283", "text": "Dextrocardia" }, { - "baseId": "213786", + "upstreamId": "213786", "text": "6q21-6q22.1 deletion" }, { - "baseId": "213951", + "upstreamId": "213951", "text": "Adolescent alopeciam dentogingival abnormalitites and intellectual disability" }, { - "baseId": "213953|244036|792729", + "upstreamId": "213953|244036|792729", "text": "Autosomal recessive woolly hair 3" }, { - "baseId": "213957|213958|213959|213960|213961|213962|213963|213964|213965", + "upstreamId": "213957|213958|213959|213960|213961|213962|213963|213964|213965", "text": "Nonsyndromic otitis media" }, { - "baseId": "213979|249384|276318|276319|276546|276547|277014|277022|277025|277112|277113|277114|277115|277116|277117|277120|319105|327533|333805|335443|335480|335534|335538|353059|353060|353284", + "upstreamId": "213979|249384|276318|276319|276546|276547|277014|277022|277025|277112|277113|277114|277115|277116|277117|277120|319105|327533|333805|335443|335480|335534|335538|353059|353060|353284", "text": "Zonular Pulverulent Cataract" }, { - "baseId": "214327|214330|420427|514026", + "upstreamId": "214327|214330|420427|514026", "text": "Occipital encephalocele" }, { - "baseId": "214327|514026|514058|971020", + "upstreamId": "214327|514026|514058|971020", "text": "Cystic renal dysplasia" }, { - "baseId": "214342|439558|439560|590021|590021|590163|621032|798668|798669|970039|983797", + "upstreamId": "214342|439558|439560|590021|590021|590163|621032|798668|798669|970039|983797", "text": "Joubert syndrome 33" }, { - "baseId": "214358", + "upstreamId": "214358", "text": "B9D1-Related Disorders" }, { - "baseId": "214364", + "upstreamId": "214364", "text": "Rotary nystagmus" }, { - "baseId": "214364|360913|360914", + "upstreamId": "214364|360913|360914", "text": "Limb undergrowth" }, { - "baseId": "214392|214393|214394", + "upstreamId": "214392|214393|214394", "text": "Porokeratosis 9, multiple types" }, { - "baseId": "214481", + "upstreamId": "214481", "text": "OBESITY (BMIQ14), SUSCEPTIBILITY TO" }, { - "baseId": "214513", + "upstreamId": "214513", "text": "Benign Soft Tissue Neoplasm of Uncertain Differentiation" }, { - "baseId": "214521|453543|453545|453555|453558|453562|453566|453567|453781|453785|453787|453793|453799|453800|453810|453812|453822|453830|453969|453970|453975|453979|454356|454363|454364|520133|520135|520263|520273|520507|520508|520510|520515|520518|520538|520539|520543|559811|559813|559815|559817|559946|562250|562254|562262|562264|562268|564071|564082|564089|564092|564098|632462|632463|632464|632465|632466|632467|632468|632469|632470|632471|632472|632473|698641|698642|698643|698644|698645|709478|721083|721085|721086|734740|764626|764627|782042|829470|829471|829472|829473|829474|829475|829476|829477|829478|829479|829480|829481|829482|829483|829484|829485|829486|829487|829488|829489|829490|829491|829492|923610|923611|923612|923613|923614|923615|923616|932442|932443|932444|932445|932446|932447|932448|932449|932450|932451|932452|932453|932454|932455|944126|944127|944128|944129|944130|944131|953851|953852|953853|953854|953855", + "upstreamId": "214521|453543|453545|453555|453558|453562|453566|453567|453781|453785|453787|453793|453799|453800|453810|453812|453822|453830|453969|453970|453975|453979|454356|454363|454364|520133|520135|520263|520273|520507|520508|520510|520515|520518|520538|520539|520543|559811|559813|559815|559817|559946|562250|562254|562262|562264|562268|564071|564082|564089|564092|564098|632462|632463|632464|632465|632466|632467|632468|632469|632470|632471|632472|632473|698641|698642|698643|698644|698645|709478|721083|721085|721086|734740|764626|764627|782042|829470|829471|829472|829473|829474|829475|829476|829477|829478|829479|829480|829481|829482|829483|829484|829485|829486|829487|829488|829489|829490|829491|829492|923610|923611|923612|923613|923614|923615|923616|932442|932443|932444|932445|932446|932447|932448|932449|932450|932451|932452|932453|932454|932455|944126|944127|944128|944129|944130|944131|953851|953852|953853|953854|953855", "text": "Epilepsy, progressive myoclonic, 10" }, { - "baseId": "214526|214527|970942", + "upstreamId": "214526|214527|970942", "text": "Mitral valve prolapse 2" }, { - "baseId": "214539", + "upstreamId": "214539", "text": "INCLUSION BODY MYOPATHY WITHOUT EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA 1" }, { - "baseId": "214544|577601|580398|610495|791655|791656|791657|920543", + "upstreamId": "214544|577601|580398|610495|791655|791656|791657|920543", "text": "Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis" }, { - "baseId": "214548|624110|624111|624112", + "upstreamId": "214548|624110|624111|624112", "text": "APC-mutation negative familial colorectal cancer" }, { - "baseId": "214559|214560|214561|215104|438599|438992|446253|469375|469378|469385|469388|469388|470412|470416|470417|470428|470435|470904|470909|470913|470920|470928|470929|470930|470932|470932|471396|471399|471408|471417|471418|471420|471422|486770|533547|533547|533549|533558|533584|533586|533587|533589|533591|533592|533597|533597|533634|533635|533638|533639|534121|534122|534127|571261|571266|571269|572916|572917|572920|572921|573557|573559|573560|573561|575109|575110|575111|612454|612455|612456|612457|612458|612459|612460|612461|648721|648722|648723|648724|648725|648726|648727|648728|648729|648730|648731|648732|648733|648734|648735|648736|648737|648738|648739|648740|648741|648742|648743|653562|653647|653650|677463|705509|705510|705511|705512|705514|705515|705516|705517|717013|717014|717016|728694|728695|728696|742440|742441|757563|757566|757568|757569|760903|760960|773127|773129|773132|773138|776660|778683|786392|786393|786394|821330|821331|848433|848434|848435|848436|848437|848438|848439|848440|848441|848442|848443|848444|848445|848446|848447|848448|848449|848450|848451|848452|848453|848454|848455|848456|848457|852378|852910|920417|929203|929204|929205|929206|929207|929208|929209|929210|929211|929212|929213|938988|938989|938990|938991|938992|938993|938994|938995|938996|940509|941252|941253|951110|951111|951112|951113|951114|951115|951116|951117|951118|958852|958853|958854|960319|960320", + "upstreamId": "214559|214560|214561|215104|438599|438992|446253|469375|469378|469385|469388|469388|470412|470416|470417|470428|470435|470904|470909|470913|470920|470928|470929|470930|470932|470932|471396|471399|471408|471417|471418|471420|471422|486770|533547|533547|533549|533558|533584|533586|533587|533589|533591|533592|533597|533597|533634|533635|533638|533639|534121|534122|534127|571261|571266|571269|572916|572917|572920|572921|573557|573559|573560|573561|575109|575110|575111|612454|612455|612456|612457|612458|612459|612460|612461|648721|648722|648723|648724|648725|648726|648727|648728|648729|648730|648731|648732|648733|648734|648735|648736|648737|648738|648739|648740|648741|648742|648743|653562|653647|653650|677463|705509|705510|705511|705512|705514|705515|705516|705517|717013|717014|717016|728694|728695|728696|742440|742441|757563|757566|757568|757569|760903|760960|773127|773129|773132|773138|776660|778683|786392|786393|786394|821330|821331|848433|848434|848435|848436|848437|848438|848439|848440|848441|848442|848443|848444|848445|848446|848447|848448|848449|848450|848451|848452|848453|848454|848455|848456|848457|852378|852910|920417|929203|929204|929205|929206|929207|929208|929209|929210|929211|929212|929213|938988|938989|938990|938991|938992|938993|938994|938995|938996|940509|941252|941253|951110|951111|951112|951113|951114|951115|951116|951117|951118|958852|958853|958854|960319|960320", "text": "Early infantile epileptic encephalopathy 34" }, { - "baseId": "214739|861615", + "upstreamId": "214739|861615", "text": "RNU4ATAC-related spliceosomopathies" }, { - "baseId": "214742|214743|214744|214745|425229|792645|798761|919909|961890", + "upstreamId": "214742|214743|214744|214745|425229|792645|798761|919909|961890", "text": "Epileptic encephalopathy, early infantile, 35" }, { - "baseId": "214760|214761|626298|860895|964619|964706|983695", + "upstreamId": "214760|214761|626298|860895|964619|964706|983695", "text": "Ritscher-schinzel syndrome 2" }, { - "baseId": "214792|226768", + "upstreamId": "214792|226768", "text": "Split-foot malformation with mesoaxial polydactyly" }, { - "baseId": "214799|214800|214801|214802|458194|458195|458710|458712|458713|458722|458810|459217|459220|459222|459225|459226|523891|523893|523902|523903|524174|524176|524179|524438|524443|524445|524452|524455|524461|524463|524491|563352|563358|563362|563366|563369|565400|565408|565409|565413|565419|568380|568381|568386|568388|568390|568397|637602|637603|637604|637605|637606|637607|637608|637609|637610|637611|637612|637613|637614|637615|637616|637617|692559|692560|700725|700726|723244|744445|766997|783218|783219|820040|820041|835353|835354|835355|835356|835357|835358|835359|835360|835361|835362|835363|835364|835365|835366|835367|835368|835369|925325|925326|925327|925328|925329|925330|925331|925332|934500|934501|934502|934503|934504|934505|940122|946299|946300|946301|946302|946303|946304|946305|946306|955652|972790", + "upstreamId": "214799|214800|214801|214802|458194|458195|458710|458712|458713|458722|458810|459217|459220|459222|459225|459226|523891|523893|523902|523903|524174|524176|524179|524438|524443|524445|524452|524455|524461|524463|524491|563352|563358|563362|563366|563369|565400|565408|565409|565413|565419|568380|568381|568386|568388|568390|568397|637602|637603|637604|637605|637606|637607|637608|637609|637610|637611|637612|637613|637614|637615|637616|637617|692559|692560|700725|700726|723244|744445|766997|783218|783219|820040|820041|835353|835354|835355|835356|835357|835358|835359|835360|835361|835362|835363|835364|835365|835366|835367|835368|835369|925325|925326|925327|925328|925329|925330|925331|925332|934500|934501|934502|934503|934504|934505|940122|946299|946300|946301|946302|946303|946304|946305|946306|955652|972790", "text": "Epileptic encephalopathy, early infantile, 37" }, { - "baseId": "214799|214800|214801|214802|800989", + "upstreamId": "214799|214800|214801|214802|800989", "text": "Progressive encephalopathy" }, { - "baseId": "214807", + "upstreamId": "214807", "text": "Immunodeficiency 45" }, { - "baseId": "214809|224665|224666|249216|260858|260859|553351|815897|815918|815920|815926|815927", + "upstreamId": "214809|224665|224666|249216|260858|260859|553351|815897|815918|815920|815926|815927", "text": "Combined T and B cell immunodeficiency" }, { - "baseId": "214809|578416", + "upstreamId": "214809|578416", "text": "Immunodeficiency 46" }, { - "baseId": "214831|214832|214833", + "upstreamId": "214831|214832|214833", "text": "Pseudohyperkalemia, familial, 2, due to red cell leak" }, { - "baseId": "214841", + "upstreamId": "214841", "text": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2K, MODIFIER OF" }, { - "baseId": "214881|214882|539045|551310|623028|791214|966599", + "upstreamId": "214881|214882|539045|551310|623028|791214|966599", "text": "Microcephaly 16, primary, autosomal recessive" }, { - "baseId": "214932|214933|432275|432276", + "upstreamId": "214932|214933|432275|432276", "text": "Overhydrated hereditary stomatocytosis" }, { - "baseId": "215001|215002", + "upstreamId": "215001|215002", "text": "Charcot-Marie-Tooth disease, axonal, type 2y" }, { - "baseId": "215003|215004|248765|410985|426373|470149|470150|470163|470167|470174|470176|470179|470182|470183|470189|471069|471072|471086|471087|471498|471501|471506|471509|471511|471515|471517|471522|471523|471912|471915|471916|471918|471919|471920|471922|471924|471926|512515|534204|534206|534207|534210|534211|534217|534218|534221|534232|534236|534241|534245|534254|534258|534265|534338|534341|534348|534350|534357|534358|534716|534718|534719|534725|534727|534730|535283|537403|537404|540472|571916|571922|571925|571927|571937|573361|573362|573364|573366|573367|573373|574091|574092|574094|574096|574098|574100|575252|575253|575254|575255|575256|575257|575258|575259|649376|649377|649378|649379|649380|649381|649382|649383|649384|649385|649386|649387|649388|649389|649390|649391|649392|649393|649394|649395|649396|649397|649398|649399|649400|649401|649402|649403|649404|649405|649406|649407|653322|653715|653719|683110|683112|683213|694707|694710|694711|705881|705882|705884|729145|742854|742856|742857|742858|745154|745344|758037|758041|773515|773517|773518|778636|792053|849234|849235|849236|849237|849238|849239|849240|849241|849242|849243|849244|849245|849246|849247|849248|849249|849250|849251|851920|852930|929463|929464|929465|929466|929467|929468|929469|929470|939273|939274|939275|951425|951426|951427|951428|951429|951430|951431|951432|951433|951434|951435|959071|959072|959073|960345|960346|982248|982249", + "upstreamId": "215003|215004|248765|410985|426373|470149|470150|470163|470167|470174|470176|470179|470182|470183|470189|471069|471072|471086|471087|471498|471501|471506|471509|471511|471515|471517|471522|471523|471912|471915|471916|471918|471919|471920|471922|471924|471926|512515|534204|534206|534207|534210|534211|534217|534218|534221|534232|534236|534241|534245|534254|534258|534265|534338|534341|534348|534350|534357|534358|534716|534718|534719|534725|534727|534730|535283|537403|537404|540472|571916|571922|571925|571927|571937|573361|573362|573364|573366|573367|573373|574091|574092|574094|574096|574098|574100|575252|575253|575254|575255|575256|575257|575258|575259|649376|649377|649378|649379|649380|649381|649382|649383|649384|649385|649386|649387|649388|649389|649390|649391|649392|649393|649394|649395|649396|649397|649398|649399|649400|649401|649402|649403|649404|649405|649406|649407|653322|653715|653719|683110|683112|683213|694707|694710|694711|705881|705882|705884|729145|742854|742856|742857|742858|745154|745344|758037|758041|773515|773517|773518|778636|792053|849234|849235|849236|849237|849238|849239|849240|849241|849242|849243|849244|849245|849246|849247|849248|849249|849250|849251|851920|852930|929463|929464|929465|929466|929467|929468|929469|929470|939273|939274|939275|951425|951426|951427|951428|951429|951430|951431|951432|951433|951434|951435|959071|959072|959073|960345|960346|982248|982249", "text": "Charcot-Marie-Tooth disease, axonal, type 2z" }, { - "baseId": "215037", + "upstreamId": "215037", "text": "MELANOCORTIN 4 RECEPTOR POLYMORPHISM" }, { - "baseId": "215037", + "upstreamId": "215037", "text": "OBESITY, RESISTANCE TO" }, { - "baseId": "215059|916783", + "upstreamId": "215059|916783", "text": "Deafness, autosomal dominant 68" }, { - "baseId": "215089|215090|215091", + "upstreamId": "215089|215090|215091", "text": "X-linked dominant Parkinson's disease" }, { - "baseId": "215093|368095|513941|514022|608934|801518|801519|806406", + "upstreamId": "215093|368095|513941|514022|608934|801518|801519|806406", "text": "Leukoencephalopathy" }, { - "baseId": "215093|622895|964356", + "upstreamId": "215093|622895|964356", "text": "Leukodystrophy, hypomyelinating, 12" }, { - "baseId": "215097|514119|517762|970834", + "upstreamId": "215097|514119|517762|970834", "text": "Recurrent infections" }, { - "baseId": "215104|215105|469388|470932|533547|533597|619848|622471|677463", + "upstreamId": "215104|215105|469388|470932|533547|533597|619848|622471|677463", "text": "Epilepsy, idiopathic generalized, susceptibility to, 14" }, { - "baseId": "215118", + "upstreamId": "215118", "text": "CHD2-Related Disorder" }, { - "baseId": "215312|424455|424456|424459|424460|424461|550887|550889|654125|963573|976649", + "upstreamId": "215312|424455|424456|424459|424460|424461|550887|550889|654125|963573|976649", "text": "Intellectual disability, autosomal dominant 53" }, { - "baseId": "215434|254136|274286|313856|313857|313862|313863|313867|313872|313873|313874|313877|313885|313886|313888|313889|320061|320069|320071|320080|320084|320087|320102|320108|320111|320114|320134|320135|320138|320142|320143|320145|320146|320147|320163|320166|320167|320197|320198|326222|326244|326245|326246|326248|326251|326252|326255|326256|326257|326258|326270|326272|326273|326276|326277|327197|327203|327206|327207|327214|327222|327223|327224|327241|327242|327259|327263|327273|327276|327282|327283|612908|867820|867821|867822|867823|867824|867825|867826|867827|867828|867829|867830|867831|867832|867833|867834|867835|867836|867837|867838|867839|867840|867841|867842|867843|867844|867845|867846|867847|867848|867849|867850|867851|867852|867853|867854|867855|867856|867857|867858|867859", + "upstreamId": "215434|254136|274286|313856|313857|313862|313863|313867|313872|313873|313874|313877|313885|313886|313888|313889|320061|320069|320071|320080|320084|320087|320102|320108|320111|320114|320134|320135|320138|320142|320143|320145|320146|320147|320163|320166|320167|320197|320198|326222|326244|326245|326246|326248|326251|326252|326255|326256|326257|326258|326270|326272|326273|326276|326277|327197|327203|327206|327207|327214|327222|327223|327224|327241|327242|327259|327263|327273|327276|327282|327283|612908|867820|867821|867822|867823|867824|867825|867826|867827|867828|867829|867830|867831|867832|867833|867834|867835|867836|867837|867838|867839|867840|867841|867842|867843|867844|867845|867846|867847|867848|867849|867850|867851|867852|867853|867854|867855|867856|867857|867858|867859", "text": "carboxymethyl-dextran-A2-gadolinium-DOTA" }, { - "baseId": "215434|223627|223637|262041|262042|262043|262044|262045|262046|262047|262048|262049|262050|262051|313857|313862|313870|313872|313873|313874|313885|313888|320061|320062|320071|320080|320087|320088|320089|320100|320102|320108|320111|320112|320114|320138|320142|320143|320145|320146|320147|320163|320165|320167|320174|320198|320199|326222|326244|326245|326251|326252|326255|326257|326270|326273|326277|327197|327204|327214|327217|327218|327223|327224|327241|327263|327272|327273|327282|327283|551625|576140|800694|858615", + "upstreamId": "215434|223627|223637|262041|262042|262043|262044|262045|262046|262047|262048|262049|262050|262051|313857|313862|313870|313872|313873|313874|313885|313888|320061|320062|320071|320080|320087|320088|320089|320100|320102|320108|320111|320112|320114|320138|320142|320143|320145|320146|320147|320163|320165|320167|320174|320198|320199|326222|326244|326245|326251|326252|326255|326257|326270|326273|326277|327197|327204|327214|327217|327218|327223|327224|327241|327263|327272|327273|327282|327283|551625|576140|800694|858615", "text": "Congenital aniridia" }, { - "baseId": "215434|254136|274286|313856|313857|313862|313863|313867|313870|313872|313873|313874|313877|313885|313886|313888|313889|320061|320062|320069|320071|320080|320084|320087|320088|320089|320100|320102|320108|320111|320112|320114|320134|320135|320138|320142|320143|320145|320146|320147|320163|320165|320166|320167|320174|320197|320198|320199|326222|326244|326245|326246|326248|326251|326252|326255|326256|326257|326258|326270|326272|326273|326276|326277|327197|327203|327204|327206|327207|327214|327217|327218|327222|327223|327224|327241|327242|327259|327263|327272|327273|327276|327282|327283|612908|867820|867821|867822|867823|867824|867825|867826|867827|867828|867829|867830|867831|867832|867833|867834|867835|867836|867837|867838|867839|867840|867841|867842|867843|867844|867845|867846|867847|867848|867849|867850|867851|867852|867853|867854|867855|867856|867857|867858|867859", + "upstreamId": "215434|254136|274286|313856|313857|313862|313863|313867|313870|313872|313873|313874|313877|313885|313886|313888|313889|320061|320062|320069|320071|320080|320084|320087|320088|320089|320100|320102|320108|320111|320112|320114|320134|320135|320138|320142|320143|320145|320146|320147|320163|320165|320166|320167|320174|320197|320198|320199|326222|326244|326245|326246|326248|326251|326252|326255|326256|326257|326258|326270|326272|326273|326276|326277|327197|327203|327204|327206|327207|327214|327217|327218|327222|327223|327224|327241|327242|327259|327263|327272|327273|327276|327282|327283|612908|867820|867821|867822|867823|867824|867825|867826|867827|867828|867829|867830|867831|867832|867833|867834|867835|867836|867837|867838|867839|867840|867841|867842|867843|867844|867845|867846|867847|867848|867849|867850|867851|867852|867853|867854|867855|867856|867857|867858|867859", "text": "Keratitis, hereditary" }, { - "baseId": "215571|361955|550268|550270|550271|550272|789387|975719|975720|975721|976519", + "upstreamId": "215571|361955|550268|550270|550271|550272|789387|975719|975720|975721|976519", "text": "Myopathy, congenital, with neuropathy and deafness" }, { - "baseId": "215635|215636|215637|805099", + "upstreamId": "215635|215636|215637|805099", "text": "Tooth agenesis, selective, 7" }, { - "baseId": "215638", + "upstreamId": "215638", "text": "Retinal dystrophy and iris coloboma with or without congenital cataract" }, { - "baseId": "215639|215640|215641", + "upstreamId": "215639|215640|215641", "text": "Parkinson disease 22, autosomal dominant" }, { - "baseId": "215642|215643", + "upstreamId": "215642|215643", "text": "Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type" }, { - "baseId": "215646|215647", + "upstreamId": "215646|215647", "text": "Deafness, autosomal dominant 69" }, { - "baseId": "215651|215652|260899|439090|800608", + "upstreamId": "215651|215652|260899|439090|800608", "text": "Ciliopathy" }, { - "baseId": "215655|215656|215657|622876|788769|857616", + "upstreamId": "215655|215656|215657|622876|788769|857616", "text": "SLC39A8-CDG" }, { - "baseId": "215661|215662", + "upstreamId": "215661|215662", "text": "Nonsyndromic hypergonadotropic hypogonadism" }, { - "baseId": "215661|215662", + "upstreamId": "215661|215662", "text": "Ovarian dysgenesis 5" }, { - "baseId": "215673|215674|481352|539029|964343|965278|965279|970225", + "upstreamId": "215673|215674|481352|539029|964343|965278|965279|970225", "text": "Myasthenic syndrome, congenital, 19" }, { - "baseId": "215723|215724|215725|536073|918617|980302", + "upstreamId": "215723|215724|215725|536073|918617|980302", "text": "Cleft palate, psychomotor retardation, and distinctive facial features" }, { - "baseId": "215751|215752", + "upstreamId": "215751|215752", "text": "Symmetric circumferential skin creases, congenital, 1" }, { - "baseId": "215753|215754|215755|215756|621619|622028", + "upstreamId": "215753|215754|215755|215756|621619|622028", "text": "Skin creases, congenital symmetric circumferential, 2" }, { - "baseId": "215758|215759|798566", + "upstreamId": "215758|215759|798566", "text": "Optic atrophy 10 with or without ataxia, mental retardation, and seizures" }, { - "baseId": "215782|482291|816484|816485|906277", + "upstreamId": "215782|482291|816484|816485|906277", "text": "Joubert syndrome 26" }, { - "baseId": "215785|215786|215787", + "upstreamId": "215785|215786|215787", "text": "Radioulnar synostosis with amegakaryocytic thrombocytopenia 2" }, { - "baseId": "216009|216019", + "upstreamId": "216009|216019", "text": "CCDC115-CDG" }, { - "baseId": "216009|216010|216017|216019", + "upstreamId": "216009|216010|216017|216019", "text": "Congenital disorders of glycosylation type II" }, { - "baseId": "216010|216017|224173|224174", + "upstreamId": "216010|216017|224173|224174", "text": "TMEM199-CDG" }, { - "baseId": "216789|216790|216791|216792|789892|789893", + "upstreamId": "216789|216790|216791|216792|789892|789893", "text": "Cerebellar atrophy, visual impairment, and psychomotor retardation" }, { - "baseId": "216792|611498", + "upstreamId": "216792|611498", "text": "EMC1-Related Disorder" }, { - "baseId": "216916|216917|216918|216919|216920|360676|411476|411477|422515|512747|535715|590565|622929|625879|682085|682086|682087|682088|682089|682090|682091|682092|682093|682094|682095|682096|682097|682098|682099|682100|682101|682102|682103|682104|682105|920058|920059|920060|964925|980405|983690", + "upstreamId": "216916|216917|216918|216919|216920|360676|411476|411477|422515|512747|535715|590565|622929|625879|682085|682086|682087|682088|682089|682090|682091|682092|682093|682094|682095|682096|682097|682098|682099|682100|682101|682102|682103|682104|682105|920058|920059|920060|964925|980405|983690", "text": "Mental retardation, X-linked, syndromic 33" }, { - "baseId": "216921|578525|578526|917791|917792", + "upstreamId": "216921|578525|578526|917791|917792", "text": "Coenzyme Q10 deficiency, primary, 8" }, { - "baseId": "216924|216925|216926|465565|466181|466183|466185|466191|466192|466971|466975|467013|467018|467265|467266|467268|467283|467291|467292|467294|530450|530585|530592|530594|530595|530775|530777|530963|530969|530970|530974|568524|568526|569828|570641|570644|570646|574228|645236|645237|645238|645239|645240|645241|694004|703926|703927|703928|703929|726960|726961|726963|755578|760499|785456|792802|820961|820962|844624|844625|844626|844627|844628|844629|844630|844631|844632|844633|844634|844635|844636|844637|844638|928034|928035|937694|937695|949667|949668|949669|949670|949671", + "upstreamId": "216924|216925|216926|465565|466181|466183|466185|466191|466192|466971|466975|467013|467018|467265|467266|467268|467283|467291|467292|467294|530450|530585|530592|530594|530595|530775|530777|530963|530969|530970|530974|568524|568526|569828|570641|570644|570646|574228|645236|645237|645238|645239|645240|645241|694004|703926|703927|703928|703929|726960|726961|726963|755578|760499|785456|792802|820961|820962|844624|844625|844626|844627|844628|844629|844630|844631|844632|844633|844634|844635|844636|844637|844638|928034|928035|937694|937695|949667|949668|949669|949670|949671", "text": "Ciliary dyskinesia, primary, 33" }, { - "baseId": "216927|216928", + "upstreamId": "216927|216928", "text": "Mental retardation, autosomal recessive 51" }, { - "baseId": "216929|216930|216931|216932|581263", + "upstreamId": "216929|216930|216931|216932|581263", "text": "Nephrotic syndrome, type 11" }, { - "baseId": "216939|216940|216941|919395|919396", + "upstreamId": "216939|216940|216941|919395|919396", "text": "Tremor, hereditary essential, 5" }, { - "baseId": "216945|216946|216947|216948|216949|216950|424616|431919|488205|488206|513592|575493|622010|799603|906196", + "upstreamId": "216945|216946|216947|216948|216949|216950|424616|431919|488205|488206|513592|575493|622010|799603|906196", "text": "Desanto-shinawi syndrome" }, { - "baseId": "217180|217181|247551|792786", + "upstreamId": "217180|217181|247551|792786", "text": "Cholestasis, progressive familial intrahepatic, 5" }, { - "baseId": "217214|217215|217216|223700|223701|223702|223703|223707|226893|263823|263824|424643|424644|443148|446882|481501|538961|672218|672219|672220|672221|672301|672302|719566|730100|790161|790162|790163|818152|818153|961506|961507|964190|970199|980907", + "upstreamId": "217214|217215|217216|223700|223701|223702|223703|223707|226893|263823|263824|424643|424644|443148|446882|481501|538961|672218|672219|672220|672221|672301|672302|719566|730100|790161|790162|790163|818152|818153|961506|961507|964190|970199|980907", "text": "Hypotonia, infantile, with psychomotor retardation and characteristic facies 2" }, { - "baseId": "217217|615912", + "upstreamId": "217217|615912", "text": "Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression" }, { - "baseId": "217217", + "upstreamId": "217217", "text": "SLC25A42-related mitochondrial disorder" }, { - "baseId": "217240|217241|217242|217243|217244|481071|677415|789363|918816|918817", + "upstreamId": "217240|217241|217242|217243|217244|481071|677415|789363|918816|918817", "text": "Robinow syndrome, autosomal dominant 3" }, { - "baseId": "217264|217265|217266|217267", + "upstreamId": "217264|217265|217266|217267", "text": "nonsyndromic cleft palate" }, { - "baseId": "217271|217338", + "upstreamId": "217271|217338", "text": "Deafness, autosomal recessive 68" }, { - "baseId": "217280|977279", + "upstreamId": "217280|977279", "text": "TUBB3-related tubulinopathy" }, { - "baseId": "221136|238590|238592|238595|238596|250493|250494|250497|250501|250502|250503|250505|250506|250507|266843|283960|283962|283963|283970|283971|283972|283978|283979|283982|284685|284693|284695|284696|284698|284699|284725|284727|284739|284742|284743|286627|286630|286631|286635|286636|286639|286642|286644|287049|287060|287065|287069|287071|287072|287073|287088|287102|287103|287104|392274|450379|450392|450513|517524|517610|517618|517632|620049|629294|683468|683470|686110|686116|686117|689703|747169|759187|883310|883311|883312|883313|883314|883315|883316|883317|883318|883319|883320|883321|883322|883323|883324|883325|883326|883327|883328|883329|883330|883331|883332|883333|883334|883335|883336|883337|883338|883339|883340|883341|883342|883343|883344|883345|883346|883347|883348|887238|887239|887240", + "upstreamId": "221136|238590|238592|238595|238596|250493|250494|250497|250501|250502|250503|250505|250506|250507|266843|283960|283962|283963|283970|283971|283972|283978|283979|283982|284685|284693|284695|284696|284698|284699|284725|284727|284739|284742|284743|286627|286630|286631|286635|286636|286639|286642|286644|287049|287060|287065|287069|287071|287072|287073|287088|287102|287103|287104|392274|450379|450392|450513|517524|517610|517618|517632|620049|629294|683468|683470|686110|686116|686117|689703|747169|759187|883310|883311|883312|883313|883314|883315|883316|883317|883318|883319|883320|883321|883322|883323|883324|883325|883326|883327|883328|883329|883330|883331|883332|883333|883334|883335|883336|883337|883338|883339|883340|883341|883342|883343|883344|883345|883346|883347|883348|887238|887239|887240", "text": "ALS2-Related Disorders" }, { - "baseId": "221698", + "upstreamId": "221698", "text": "GARS-Associated Axonal Neuropathy" }, { - "baseId": "222607|514007", + "upstreamId": "222607|514007", "text": "Thoracic scoliosis" }, { - "baseId": "222922", + "upstreamId": "222922", "text": "Schizoaffective disorder, depressive type" }, { - "baseId": "222924|222925|590592|590593", + "upstreamId": "222924|222925|590592|590593", "text": "Cataract 44" }, { - "baseId": "222930|222931|578422", + "upstreamId": "222930|222931|578422", "text": "Seckel syndrome 9" }, { - "baseId": "222973|222974|222975|224869|224870|224871|224872|380148|380149|380150|672357|794277|965787|965788|965789|965790|965791|965792|965793|965794|965795|965796|965797|965798|965799|965800|965801|965802|965803|965804|965805|965806|965807|965808|965809|965810|965811|965812|965813|965814|965815|983927", + "upstreamId": "222973|222974|222975|224869|224870|224871|224872|380148|380149|380150|672357|794277|965787|965788|965789|965790|965791|965792|965793|965794|965795|965796|965797|965798|965799|965800|965801|965802|965803|965804|965805|965806|965807|965808|965809|965810|965811|965812|965813|965814|965815|983927", "text": "Oocyte maturation defect 2" }, { - "baseId": "222982|222983", + "upstreamId": "222982|222983", "text": "Spondylocostal dysostosis 6, autosomal recessive" }, { - "baseId": "222985|222986|222987|222988|427813|447876|447878|447880|447882|448030|448039|448097|448105|448168|515850|515879|515886|515891|515969|557311|627824|627825|650546|650748|690594|690595|690596|690597|696719|696720|696722|718956|761908|789109|823946|823947|823948|823949|922010|940632|941934|952405|952406|952407|952408", + "upstreamId": "222985|222986|222987|222988|427813|447876|447878|447880|447882|448030|448039|448097|448105|448168|515850|515879|515886|515891|515969|557311|627824|627825|650546|650748|690594|690595|690596|690597|696719|696720|696722|718956|761908|789109|823946|823947|823948|823949|922010|940632|941934|952405|952406|952407|952408", "text": "Joubert syndrome 25" }, { - "baseId": "222989", + "upstreamId": "222989", "text": "BAP1 Cancer Syndrome" }, { - "baseId": "222995|247394|248601|248602|248603|248606|551309|583114|583115|624054|624055|788863|805023", + "upstreamId": "222995|247394|248601|248602|248603|248606|551309|583114|583115|624054|624055|788863|805023", "text": "Microcephaly 17, primary, autosomal recessive" }, { - "baseId": "222997|285823|285827|286553|286555|286561|288795|288800|289216|366592|614556|977712", + "upstreamId": "222997|285823|285827|286553|286555|286561|288795|288800|289216|366592|614556|977712", "text": "Mitochondrial DNA depletion syndrome, hepatocerebral form" }, { - "baseId": "222997", + "upstreamId": "222997", "text": "Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)" }, { - "baseId": "223017", + "upstreamId": "223017", "text": "Orofacial cleft 15" }, { - "baseId": "223018|223019|223020|223021|223022|223023|223024|223025|538991|790572|972786", + "upstreamId": "223018|223019|223020|223021|223022|223023|223024|223025|538991|790572|972786", "text": "Spastic paraplegia and psychomotor retardation with or without seizures" }, { - "baseId": "223026", + "upstreamId": "223026", "text": "Hereditary elliptocytosis" }, { - "baseId": "223282|223293|223294|223295|362149|362150", + "upstreamId": "223282|223293|223294|223295|362149|362150", "text": "Spinocerebellar ataxia, autosomal recessive 2" }, { - "baseId": "223283", + "upstreamId": "223283", "text": "LIM DOMAIN ONLY-1 POLYMORPHISM" }, { - "baseId": "223284|223285|223286|223287|223288|223289|223290|223291|225845|225881|247070|361202|362425|362426|408530|408531|418971|418972|421902|421904|424623|424631|424659|425221|425222|425950|426745|434766|444923|462433|481412|482012|511031|511971|511972|536069|550620|550621|550622|611408|611409|613867|614045|614607|626212|653881|798652|805724|815996|903586|917105|919413|919414|919415|919416|920311|961617|963747|964373|964374|964375|964376|964377|964378|964674|964675|967275|970949|970950|970951|970952|972837|972840|972841|972954|972955|972956|972957|972958|972959|983786|983788", + "upstreamId": "223284|223285|223286|223287|223288|223289|223290|223291|225845|225881|247070|361202|362425|362426|408530|408531|418971|418972|421902|421904|424623|424631|424659|425221|425222|425950|426745|434766|444923|462433|481412|482012|511031|511971|511972|536069|550620|550621|550622|611408|611409|613867|614045|614607|626212|653881|798652|805724|815996|903586|917105|919413|919414|919415|919416|920311|961617|963747|964373|964374|964375|964376|964377|964378|964674|964675|967275|970949|970950|970951|970952|972837|972840|972841|972954|972955|972956|972957|972958|972959|983786|983788", "text": "Mental retardation and distinctive facial features with or without cardiac defects" }, { - "baseId": "223645|321281|321298|330507|337017", + "upstreamId": "223645|321281|321298|330507|337017", "text": "VSX2-related Microphthalmia" }, { - "baseId": "223669|223669|539075|578548|578549|622444|622445|626256|961336|963176|965235", + "upstreamId": "223669|223669|539075|578548|578549|622444|622445|626256|961336|963176|965235", "text": "Spinocerebellar ataxia 42" }, { - "baseId": "223669", + "upstreamId": "223669", "text": "CACNA1G-related disorders" }, { - "baseId": "223669|265019|415572|550304|626256|626257|778363|860412|919746|919747|919748|919749|971085", + "upstreamId": "223669|265019|415572|550304|626256|626257|778363|860412|919746|919747|919748|919749|971085", "text": "Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits" }, { - "baseId": "223692|223693|223694", + "upstreamId": "223692|223693|223694", "text": "Wilms tumor 6" }, { - "baseId": "223695", + "upstreamId": "223695", "text": "Vibratory urticaria" }, { - "baseId": "223696|223697|223698|223699", + "upstreamId": "223696|223697|223698|223699", "text": "Combined oxidative phosphorylation deficiency 28" }, { - "baseId": "223709|223710|223711|223712|223713|360941|424661|444967|495732|511984|536093|583116|611411|622410|653995|683188|683189|683190|683191|683192|683193|683194|683195|683196|683197|683198|683200|683202|683203|683204|683205|683206|683207|683208|683209|798653|861572|961652|962056|964382|967277|970958|970959", + "upstreamId": "223709|223710|223711|223712|223713|360941|424661|444967|495732|511984|536093|583116|611411|622410|653995|683188|683189|683190|683191|683192|683193|683194|683195|683196|683197|683198|683200|683202|683203|683204|683205|683206|683207|683208|683209|798653|861572|961652|962056|964382|967277|970958|970959", "text": "Lamb-shaffer syndrome" }, { - "baseId": "223714", + "upstreamId": "223714", "text": "Combined oxidative phosphorylation deficiency 29" }, { - "baseId": "223715|223716", + "upstreamId": "223715|223716", "text": "Hyperphosphatasia with mental retardation syndrome 6" }, { - "baseId": "223717|446855|800948", + "upstreamId": "223717|446855|800948", "text": "Preimplantation embryonic lethality 1" }, { - "baseId": "223737", + "upstreamId": "223737", "text": "Spastic paraplegia, optic atrophy, and neuropathy" }, { - "baseId": "223738|578374", + "upstreamId": "223738|578374", "text": "Microcephaly, short stature, and impaired glucose metabolism 2" }, { - "baseId": "223741", + "upstreamId": "223741", "text": "IgA nephropathy, susceptibility to, 3" }, { - "baseId": "223742|612717|614645|614646|614647", + "upstreamId": "223742|612717|614645|614646|614647", "text": "Muscular dystrophy, limb-girdle, type 2X" }, { - "baseId": "223744|919262", + "upstreamId": "223744|919262", "text": "Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia" }, { - "baseId": "223761|223762|223763|223764", + "upstreamId": "223761|223762|223763|223764", "text": "Inherited bone marrow failure syndrome" }, { - "baseId": "223761|223762|223763|223764|247583|609003|609004|790553|798560|802154", + "upstreamId": "223761|223762|223763|223764|247583|609003|609004|790553|798560|802154", "text": "Bone marrow failure syndrome 3" }, { - "baseId": "223765|223766|223767|223768|226382|538444|590310|971025", + "upstreamId": "223765|223766|223767|223768|226382|538444|590310|971025", "text": "Parkinson disease 23, autosomal recessive early-onset" }, { - "baseId": "223771", + "upstreamId": "223771", "text": "Cachexia" }, { - "baseId": "223771", + "upstreamId": "223771", "text": "Abnormal pattern of respiration" }, { - "baseId": "223771|360857|360941|361041|446889|514016|514091|610430|800985|905848", + "upstreamId": "223771|360857|360941|361041|446889|514016|514091|610430|800985|905848", "text": "Strabismus" }, { - "baseId": "223779", + "upstreamId": "223779", "text": "Hypotonia, infantile, with psychomotor retardation" }, { - "baseId": "223780|223781|223782|236862|417867|679342|798822|800680|822287|861587", + "upstreamId": "223780|223781|223782|236862|417867|679342|798822|800680|822287|861587", "text": "Mental retardation, X-linked, syndromic 34" }, { - "baseId": "224306|224450|244161", + "upstreamId": "224306|224450|244161", "text": "Skeletal myopathy" }, { - "baseId": "224411|291085|291103|291104|292062|295393|295411|295594|295618|311739|317301|672229|672230|672231|672232|672233|672297|672298|672299|858554|918512|918513|918515|918516|918517|965294", + "upstreamId": "224411|291085|291103|291104|292062|295393|295411|295594|295618|311739|317301|672229|672230|672231|672232|672233|672297|672298|672299|858554|918512|918513|918515|918516|918517|965294", "text": "Nephrotic syndrome" }, { - "baseId": "224461", + "upstreamId": "224461", "text": "First degree atrioventricular block" }, { - "baseId": "224616|250156|250159|250161|250162|448463|448564|448565|448569|448571|448685|448688|448690|448693|448778|448786|516332|516335|516347|516350|516374|516401|516421|516430|516432|516434|557506|557508|557510|557512|557555|557557|558715|558717|559200|559202|628435|628436|628437|628438|628439|628440|628441|628442|650767|650833|650835|690739|777196|824742|824743|824744|824745|824746|824747|824748|824749|824750|824751|824752|824753|824754|851332|922236|922237|930796|930797|930798|942228|952631", + "upstreamId": "224616|250156|250159|250161|250162|448463|448564|448565|448569|448571|448685|448688|448690|448693|448778|448786|516332|516335|516347|516350|516374|516401|516421|516430|516432|516434|557506|557508|557510|557512|557555|557557|558715|558717|559200|559202|628435|628436|628437|628438|628439|628440|628441|628442|650767|650833|650835|690739|777196|824742|824743|824744|824745|824746|824747|824748|824749|824750|824751|824752|824753|824754|851332|922236|922237|930796|930797|930798|942228|952631", "text": "Muscular dystrophy, limb-girdle, type 2W" }, { - "baseId": "224617", + "upstreamId": "224617", "text": "MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE" }, { - "baseId": "224665|224666|451991", + "upstreamId": "224665|224666|451991", "text": "Autoimmune disease, multisystem, infantile-onset, 2" }, { - "baseId": "224678|224679|224680|224681|224682|224683|224684|224685|224686|224687|224688|224689|224690", + "upstreamId": "224678|224679|224680|224681|224682|224683|224684|224685|224686|224687|224688|224689|224690", "text": "Monoclonal B-Cell Lymphocytosis" }, { - "baseId": "224695|224696|224697", + "upstreamId": "224695|224696|224697", "text": "Microcephaly, congenital cataract, and psoriasiform dermatitis" }, { - "baseId": "224700|224701|226639|226640|226641|226642|226643|226644|226645|226646|226647|226649|226650|226652|226653|226654|226655|226656", + "upstreamId": "224700|224701|226639|226640|226641|226642|226643|226644|226645|226646|226647|226649|226650|226652|226653|226654|226655|226656", "text": "Cerebral visual impairment and intellectual disability" }, { - "baseId": "224706|224707|226069|919424", + "upstreamId": "224706|224707|226069|919424", "text": "Toriello-Lacassie-Droste syndrome" }, { - "baseId": "224708|224709|789841|965210", + "upstreamId": "224708|224709|789841|965210", "text": "Paget disease of bone 6" }, { - "baseId": "224814|224816|244175", + "upstreamId": "224814|224816|244175", "text": "Short stature, developmental delay, and congenital heart defects" }, { - "baseId": "224821|224822|224823|224824|224825|481245|481503|512663|538510|539113|611450|917773|964705|972735|972736", + "upstreamId": "224821|224822|224823|224824|224825|481245|481503|512663|538510|539113|611450|917773|964705|972735|972736", "text": "Mental retardation, X-linked 99, syndromic, female-restricted" }, { - "baseId": "224832|224833", + "upstreamId": "224832|224833", "text": "Exercise intolerance, riboflavin-responsive" }, { - "baseId": "224866|362857|363052", + "upstreamId": "224866|362857|363052", "text": "MELORHEOSTOSIS, ISOLATED, SOMATIC MOSAIC" }, { - "baseId": "224882|224883|439689", + "upstreamId": "224882|224883|439689", "text": "Brachydactyly, type a1, d" }, { - "baseId": "224967|613916|613955|613984|614036", + "upstreamId": "224967|613916|613955|613984|614036", "text": "Chromosome 17q12 duplication syndrome" }, { - "baseId": "224974|919852|919853", + "upstreamId": "224974|919852|919853", "text": "Cataract 45" }, { - "baseId": "225795|466943|466947|466949|467848|467853|467855|467861|468150|468153|468161|468337|468349|531195|531200|531205|531208|574505|646140|652807|652976|694093|694094|694095|695750|704187|740832|845542|845543|845544|845545|845546|845547|845548|845549|928357|928358|938000|938001|938002|940418|949991|949992|949993|949994", + "upstreamId": "225795|466943|466947|466949|467848|467853|467855|467861|468150|468153|468161|468337|468349|531195|531200|531205|531208|574505|646140|652807|652976|694093|694094|694095|695750|704187|740832|845542|845543|845544|845545|845546|845547|845548|845549|928357|928358|938000|938001|938002|940418|949991|949992|949993|949994", "text": "Atrial fibrillation, familial, 18" }, { - "baseId": "225797|225798", + "upstreamId": "225797|225798", "text": "Anemia, sideroblastic, 4" }, { - "baseId": "225802|384424|426751|514320|514322|514324|514325|514326|514327|514327|514328|514329|514330|514336|550126|576328|608922|677043|921237|921238|921243|975943", + "upstreamId": "225802|384424|426751|514320|514322|514324|514325|514326|514327|514327|514328|514329|514330|514336|550126|576328|608922|677043|921237|921238|921243|975943", "text": "Moderate global developmental delay" }, { - "baseId": "225802|590225|590226|590227|590228|590229|590230|790068|798486|918676", + "upstreamId": "225802|590225|590226|590227|590228|590229|590230|790068|798486|918676", "text": "Autism 5" }, { - "baseId": "225802|225802|225802|679897|921238|921240", + "upstreamId": "225802|225802|225802|679897|921238|921240", "text": "Delayed fine motor development" }, { - "baseId": "225802|513910", + "upstreamId": "225802|513910", "text": "Abnormal brainstem MRI signal intensity" }, { - "baseId": "225802|263332", + "upstreamId": "225802|263332", "text": "Hypoplasia of the frontal lobes" }, { - "baseId": "225802", + "upstreamId": "225802", "text": "Focal cortical dysplasia" }, { - "baseId": "225815|263782|263783|361701|362304|362305|362307|362310|362311|362312|362313|407829|481314|535703|551777|672078|679767|790944|816373|816471|963695|964842|980937", + "upstreamId": "225815|263782|263783|361701|362304|362305|362307|362310|362311|362312|362313|407829|481314|535703|551777|672078|679767|790944|816373|816471|963695|964842|980937", "text": "Hypotonia, ataxia, and delayed development syndrome" }, { - "baseId": "225852|514188", + "upstreamId": "225852|514188", "text": "Edema of the lower limbs" }, { - "baseId": "225852|514114|514188", + "upstreamId": "225852|514114|514188", "text": "Downslanted palpebral fissures" }, { - "baseId": "225870|263011|380286|380287|380288|391129|391133|391178|391211|391216|424638|439845|439847|439848|439850|439851|439855|439856|439857|439858|439859|439860|481589|486731|515820|550580|552397|558459|611375|614214|789955|789956|903506|918626|918627|921967|964152|964798|965272", + "upstreamId": "225870|263011|380286|380287|380288|391129|391133|391178|391211|391216|424638|439845|439847|439848|439850|439851|439855|439856|439857|439858|439859|439860|481589|486731|515820|550580|552397|558459|611375|614214|789955|789956|903506|918626|918627|921967|964152|964798|965272", "text": "Epileptic encephalopathy, early infantile, 54" }, { - "baseId": "226044|226045", + "upstreamId": "226044|226045", "text": "Combined oxidative phosphorylation deficiency 30" }, { - "baseId": "226064|226065|226066", + "upstreamId": "226064|226065|226066", "text": "Even-plus syndrome" }, { - "baseId": "226233", + "upstreamId": "226233", "text": "ARV1-related condition" }, { - "baseId": "226235|226236", + "upstreamId": "226235|226236", "text": "Brainstem dysplasia" }, { - "baseId": "226235|226236", + "upstreamId": "226235|226236", "text": "Heart and brain malformation syndrome" }, { - "baseId": "226290|226291", + "upstreamId": "226290|226291", "text": "Spasticity, childhood-onset, with hyperglycinemia" }, { - "baseId": "226331", + "upstreamId": "226331", "text": "Adenomatous polyposis coli, attenuated" }, { - "baseId": "226373|226374|226375|226376|226377|226378|538378|583096|614152|974452", + "upstreamId": "226373|226374|226375|226376|226377|226378|538378|583096|614152|974452", "text": "Diarrhea 8, secretory sodium, congenital" }, { - "baseId": "226400", + "upstreamId": "226400", "text": "Autosomal dominant familial hypercholesterolemia" }, { - "baseId": "226403|226404|226405|226406|226407|610516", + "upstreamId": "226403|226404|226405|226406|226407|610516", "text": "Exudative retinopathy" }, { - "baseId": "226408|226410|226411", + "upstreamId": "226408|226410|226411", "text": "Duane syndrome type 3" }, { - "baseId": "226408|226409|226410|226411|576094", + "upstreamId": "226408|226409|226410|226411|576094", "text": "Duane syndrome type 1" }, { - "baseId": "226409", + "upstreamId": "226409", "text": "Duane retraction syndrome 3 with or without deafness" }, { - "baseId": "226412|226413|426117", + "upstreamId": "226412|226413|426117", "text": "Spinal muscular atrophy with congenital bone fractures 1" }, { - "baseId": "226439", + "upstreamId": "226439", "text": "Congenital muscular dystrophy with rigid spine" }, { - "baseId": "226499", + "upstreamId": "226499", "text": "GNB1-Related Disorder" }, { - "baseId": "226504|434654|513461|906211|906214|976667", + "upstreamId": "226504|434654|513461|906211|906214|976667", "text": "Chromosome 16p13.2 deletion syndrome" }, { - "baseId": "226511|226514|226515|226516|226517|226518", + "upstreamId": "226511|226514|226515|226516|226517|226518", "text": "Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency" }, { - "baseId": "226593", + "upstreamId": "226593", "text": "Metabolic crises with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" }, { - "baseId": "226595", + "upstreamId": "226595", "text": "Oxyphilic adenoma" }, { - "baseId": "226596|226597|226598|226599|226600|226601|420430|539189|539419|679855|799512|965220", + "upstreamId": "226596|226597|226598|226599|226600|226601|420430|539189|539419|679855|799512|965220", "text": "Immunodeficiency, common variable, 13" }, { - "baseId": "226609|226610|226611|226612|226613|226614|237778|237780|406822|511628|514525|611391|611646|611647|918996|918997|918998|918999|919000|970822|970823|972832|972932|972933|972934", + "upstreamId": "226609|226610|226611|226612|226613|226614|237778|237780|406822|511628|514525|611391|611646|611647|918996|918997|918998|918999|919000|970822|970823|972832|972932|972933|972934", "text": "Mental retardation, autosomal dominant 43" }, { - "baseId": "226614", + "upstreamId": "226614", "text": "HIVEP2-Related Disorder" }, { - "baseId": "226615|226616|226617|226618|226619|264757|360579|410763|410768|426344|550643|610412|610413|806079|962194|963910|964532|964895|972845|972994|972995", + "upstreamId": "226615|226616|226617|226618|226619|264757|360579|410763|410768|426344|550643|610412|610413|806079|962194|963910|964532|964895|972845|972994|972995", "text": "Okur-chung neurodevelopmental syndrome" }, { - "baseId": "226644|237016|237784|237785|237787|359325|405245|442892|513409|536089|553144|553145|553146|553147|553148|553149|578385|626113|802123|918653|918654|918655|918656|918657|964160|970702|974565", + "upstreamId": "226644|237016|237784|237785|237787|359325|405245|442892|513409|536089|553144|553145|553146|553147|553148|553149|578385|626113|802123|918653|918654|918655|918656|918657|964160|970702|974565", "text": "Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart" }, { - "baseId": "226648|480556", + "upstreamId": "226648|480556", "text": "NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE" }, { - "baseId": "226648|444451|480557|511828|919210|920272|961294", + "upstreamId": "226648|444451|480557|511828|919210|920272|961294", "text": "Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive" }, { - "baseId": "226654|677382|677383|677399|802109|802110|976670", + "upstreamId": "226654|677382|677383|677399|802109|802110|976670", "text": "Intellectual developmental disorder 62" }, { - "baseId": "226658|226659|226660|226661|226662", + "upstreamId": "226658|226659|226660|226661|226662", "text": "Chromosome 17p13.1 deletion syndrome" }, { - "baseId": "226711|244146|361295|361296|361297|361298", + "upstreamId": "226711|244146|361295|361296|361297|361298", "text": "Chromosome Xq26.3 duplication syndrome" }, { - "baseId": "226718|226719", + "upstreamId": "226718|226719", "text": "Anadysplasia-like, spontaneously remitting spondylometaphyseal dysplasia" }, { - "baseId": "226722|371648|439515|653883|677328|818143|970961", + "upstreamId": "226722|371648|439515|653883|677328|818143|970961", "text": "Spondyloepiphyseal dysplasia, stanescu type" }, { - "baseId": "226734|226735", + "upstreamId": "226734|226735", "text": "Advanced sleep phase syndrome, familial, 3" }, { - "baseId": "226736", + "upstreamId": "226736", "text": "Mental retardation, autosomal recessive 52" }, { - "baseId": "226737", + "upstreamId": "226737", "text": "Leukodystrophy, hypomyelinating, 13" }, { - "baseId": "226759|226760|919151|919152|920254", + "upstreamId": "226759|226760|919151|919152|920254", "text": "Encephalocraniocutaneous lipomatosis" }, { - "baseId": "226775|226776|677968", + "upstreamId": "226775|226776|677968", "text": "Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type" }, { - "baseId": "226816|291968|488239|488240", + "upstreamId": "226816|291968|488239|488240", "text": "Hereditary renal cell carcinoma" }, { - "baseId": "226843|415883|415884|528769|528776|529250|550369|573216|643112|693661|739570|791440|842238|842239|963787", + "upstreamId": "226843|415883|415884|528769|528776|529250|550369|573216|643112|693661|739570|791440|842238|842239|963787", "text": "Cleft palate, cardiac defects, and mental retardation" }, { - "baseId": "226843", + "upstreamId": "226843", "text": "MEIS2-related disorder" }, { - "baseId": "226845|226846|226847|226848|226849|590323|623339|802211|802212|818330|818331", + "upstreamId": "226845|226846|226847|226848|226849|590323|623339|802211|802212|818330|818331", "text": "Nephrotic syndrome, type 12" }, { - "baseId": "226850|798582", + "upstreamId": "226850|798582", "text": "Nephrotic syndrome, type 13" }, { - "baseId": "226861|513686|578590", + "upstreamId": "226861|513686|578590", "text": "Pigmentary disorder, reticulate, with systemic manifestations, X-linked" }, { - "baseId": "226870|259636|364651|511197|608799|677970|788731|792595|918582|918583|964138|970667|970668|977171", + "upstreamId": "226870|259636|364651|511197|608799|677970|788731|792595|918582|918583|964138|970667|970668|977171", "text": "Developmental and epileptic encephalopathy, 69" }, { - "baseId": "226887|965590", + "upstreamId": "226887|965590", "text": "Autoinflammation, immune dysregulation, and eosinophilia" }, { - "baseId": "226916|226917|612037|612040|678081|798621|969737", + "upstreamId": "226916|226917|612037|612040|678081|798621|969737", "text": "Epilepsy, idiopathic generalized, susceptibility to, 15" }, { - "baseId": "226957|553143|677959", + "upstreamId": "226957|553143|677959", "text": "Progressive cerebellar ataxia" }, { - "baseId": "226957", + "upstreamId": "226957", "text": "KARS-related disorders" }, { - "baseId": "226967|226968|361816|361817|858578|858579", + "upstreamId": "226967|226968|361816|361817|858578|858579", "text": "Mental retardation, autosomal recessive 58" }, { - "baseId": "226967|426271", + "upstreamId": "226967|426271", "text": "ELP2-Related Disorders" }, { - "baseId": "227010|294184", + "upstreamId": "227010|294184", "text": "Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)" }, { - "baseId": "227013|227014|227015|431678", + "upstreamId": "227013|227014|227015|431678", "text": "Macular dystrophy, patterned, 2" }, { - "baseId": "227046|227047|227048|227049|227050|227053|227056|227057|227059|553354|553355|623685", + "upstreamId": "227046|227047|227048|227049|227050|227053|227056|227057|227059|553354|553355|623685", "text": "Tooth agenesis" }, { - "baseId": "227079|227080|511483", + "upstreamId": "227079|227080|511483", "text": "Exudative vitreoretinopathy 7" }, { - "baseId": "227105|227106|227107|227108", + "upstreamId": "227105|227106|227107|227108", "text": "Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay" }, { - "baseId": "227105|227106|227107|227108|539084|583207|626269|800676|802022|855115|919803|961632", + "upstreamId": "227105|227106|227107|227108|539084|583207|626269|800676|802022|855115|919803|961632", "text": "Periventricular nodular heterotopia 7" }, { - "baseId": "227129|227130|227131|227132", + "upstreamId": "227129|227130|227131|227132", "text": "Thiopurines, poor metabolism of, 2" }, { - "baseId": "227129", + "upstreamId": "227129", "text": "mercaptopurine response - Dosage, Toxicity/ADR" }, { - "baseId": "227129", + "upstreamId": "227129", "text": "azathioprine response - Dosage, Toxicity/ADR" }, { - "baseId": "227149|227150|227151", + "upstreamId": "227149|227150|227151", "text": "Syndromic Infantile Encephalopathy" }, { - "baseId": "227242|371260|514566|622024|622025|622026|622027", + "upstreamId": "227242|371260|514566|622024|622025|622026|622027", "text": "Hypertriglyceridemia" }, { - "baseId": "227256", + "upstreamId": "227256", "text": "Hereditary hypotrichosis simplex" }, { - "baseId": "227261|620127|620765", + "upstreamId": "227261|620127|620765", "text": "TREX1-Related Disorders" }, { - "baseId": "227289|252040|252042|298450|298452|298458|298464|298465|298469|298470|298474|298484|298485|298486|298491|298508|298509|300787|300801|300803|300805|300807|300809|300813|300814|300815|300820|300821|305166|305182|305184|305199|305205|305207|305301|305320|305324|305325|305328|305331|305351|305353|305354|305355|305360|305362|305368|305371|620202|620203|620204|895065|895066|895067|895068|895069|895070|895071|895072|895073|895074|895075|895076|895077|895078|895079|895080|895081|895082|895083|895084|895085|895086|895087|895088|895089|895090|895091|895092|895093|895094|895095|895096|895097|895098|895099|895100|895101|896170|896171", + "upstreamId": "227289|252040|252042|298450|298452|298458|298464|298465|298469|298470|298474|298484|298485|298486|298491|298508|298509|300787|300801|300803|300805|300807|300809|300813|300814|300815|300820|300821|305166|305182|305184|305199|305205|305207|305301|305320|305324|305325|305328|305331|305351|305353|305354|305355|305360|305362|305368|305371|620202|620203|620204|895065|895066|895067|895068|895069|895070|895071|895072|895073|895074|895075|895076|895077|895078|895079|895080|895081|895082|895083|895084|895085|895086|895087|895088|895089|895090|895091|895092|895093|895094|895095|895096|895097|895098|895099|895100|895101|896170|896171", "text": "I blood group system" }, { - "baseId": "227347|271424|622847|903583|919386|919387|920300", + "upstreamId": "227347|271424|622847|903583|919386|919387|920300", "text": "Exudative vitreoretinopathy 4" }, { - "baseId": "227427|613840|613841|613842|614122|653993", + "upstreamId": "227427|613840|613841|613842|614122|653993", "text": "Chromosome 1q21.1 duplication syndrome" }, { - "baseId": "227430|227431|227432|227433|227434|227435|724120|799625", + "upstreamId": "227430|227431|227432|227433|227434|227435|724120|799625", "text": "Immunodeficiency-centromeric instability-facial anomalies syndrome 4" }, { - "baseId": "227436|227437|227438|227439", + "upstreamId": "227436|227437|227438|227439", "text": "Immunodeficiency-centromeric instability-facial anomalies syndrome 3" }, { - "baseId": "227440|227441|227442|227443", + "upstreamId": "227440|227441|227442|227443", "text": "Platelet-type bleeding disorder 20" }, { - "baseId": "227444|404643|404644|404646", + "upstreamId": "227444|404643|404644|404646", "text": "Lopes-Maciel-Rodan syndrome" }, { - "baseId": "227447|227448|919813|919814", + "upstreamId": "227447|227448|919813|919814", "text": "Alzheimer disease, type 9" }, { - "baseId": "227447|648879|858701|858704|858705|858707|858708|858711|858712|858715", + "upstreamId": "227447|648879|858701|858704|858705|858707|858708|858711|858712|858715", "text": "Early-onset Alzheimer's disease" }, { - "baseId": "227464|227465", + "upstreamId": "227464|227465", "text": "Charcot-Marie-Tooth disease, axonal, type 2CC" }, { - "baseId": "227467|227468|513219|792757|798572", + "upstreamId": "227467|227468|513219|792757|798572", "text": "Dyskinesia, limb and orofacial, infantile-onset" }, { - "baseId": "227469|227470|513219|792757", + "upstreamId": "227469|227470|513219|792757", "text": "Striatal degeneration, autosomal dominant 2" }, { - "baseId": "227471|227472|227473|363789|363802|406440|438600|438947|439027|453204|453211|453213|453215|453219|453223|453225|453227|453229|453231|453233|453237|453241|453242|453461|453462|453468|453479|453480|453485|453489|453490|453495|453499|453504|453510|453513|453515|453517|453568|453584|453585|453589|453603|453607|453611|453613|453615|453947|453950|453991|453992|453994|454002|454009|454010|519659|519924|519947|519949|519955|519957|519961|519963|519964|519967|519969|519978|519980|519984|520207|520212|520219|520221|520223|520226|520227|520228|520229|520232|520235|520238|520241|520243|520245|520247|520248|520249|559695|559697|559699|559703|559705|559707|559709|559852|559854|559856|559858|559860|559862|561837|562027|562031|562033|562035|563330|563724|563771|563772|563776|563784|563788|563793|589832|590166|632231|632232|632233|632234|632235|632243|632244|632245|632246|632247|632248|632249|632250|632251|632252|632253|632254|632255|632256|632257|632258|632259|632260|691572|698538|698540|698541|698545|698548|709385|709387|709388|709390|720993|744149|748958|748959|764482|764488|764490|764491|764492|779105|781962|781964|781966|781970|787207|798542|798543|829193|829194|829195|829196|829197|829198|829199|829200|829208|829209|829210|829211|829212|829213|829214|829215|829216|829217|829218|829219|829220|829221|829222|829223|851125|851606|923523|923524|923525|923526|923527|923528|923529|923530|923531|923532|923533|932358|932359|932360|932361|932362|932366|932367|932368|932369|932370|932371|932372|940780|944019|944020|944021|944022|944023|944024|944025|944026|944027|944028|944029|953786|953787|953788|953789|953790|953791|960539", + "upstreamId": "227471|227472|227473|363789|363802|406440|438600|438947|439027|453204|453211|453213|453215|453219|453223|453225|453227|453229|453231|453233|453237|453241|453242|453461|453462|453468|453479|453480|453485|453489|453490|453495|453499|453504|453510|453513|453515|453517|453568|453584|453585|453589|453603|453607|453611|453613|453615|453947|453950|453991|453992|453994|454002|454009|454010|519659|519924|519947|519949|519955|519957|519961|519963|519964|519967|519969|519978|519980|519984|520207|520212|520219|520221|520223|520226|520227|520228|520229|520232|520235|520238|520241|520243|520245|520247|520248|520249|559695|559697|559699|559703|559705|559707|559709|559852|559854|559856|559858|559860|559862|561837|562027|562031|562033|562035|563330|563724|563771|563772|563776|563784|563788|563793|589832|590166|632231|632232|632233|632234|632235|632243|632244|632245|632246|632247|632248|632249|632250|632251|632252|632253|632254|632255|632256|632257|632258|632259|632260|691572|698538|698540|698541|698545|698548|709385|709387|709388|709390|720993|744149|748958|748959|764482|764488|764490|764491|764492|779105|781962|781964|781966|781970|787207|798542|798543|829193|829194|829195|829196|829197|829198|829199|829200|829208|829209|829210|829211|829212|829213|829214|829215|829216|829217|829218|829219|829220|829221|829222|829223|851125|851606|923523|923524|923525|923526|923527|923528|923529|923530|923531|923532|923533|932358|932359|932360|932361|932362|932366|932367|932368|932369|932370|932371|932372|940780|944019|944020|944021|944022|944023|944024|944025|944026|944027|944028|944029|953786|953787|953788|953789|953790|953791|960539", "text": "Mental retardation, autosomal recessive 53" }, { - "baseId": "227491", + "upstreamId": "227491", "text": "Brachydactyly-syndactyly-oligodactyly syndrome" }, { - "baseId": "227504", + "upstreamId": "227504", "text": "Thrombocytopenia 6" }, { - "baseId": "227504|361047|513943", + "upstreamId": "227504|361047|513943", "text": "Osteoporosis" }, { - "baseId": "227511|227512|425308|513492|578362|583076|903501|964912|977169|980500", + "upstreamId": "227511|227512|425308|513492|578362|583076|903501|964912|977169|980500", "text": "Harel-Yoon syndrome" }, { - "baseId": "227573|918877", + "upstreamId": "227573|918877", "text": "Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome" }, { - "baseId": "227574|227575|227576|512552|798776|816513|973004", + "upstreamId": "227574|227575|227576|512552|798776|816513|973004", "text": "Mental retardation, X-linked, syndromic, Bain type" }, { - "baseId": "227579|611750|969587", + "upstreamId": "227579|611750|969587", "text": "MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS" }, { - "baseId": "227580|227581|227582|227583|481999|575494|608845|791153|791154|963160|974893|974894|974895|974896|974897|974898|974899|974900|974901", + "upstreamId": "227580|227581|227582|227583|481999|575494|608845|791153|791154|963160|974893|974894|974895|974896|974897|974898|974899|974900|974901", "text": "Spastic paraplegia 76, autosomal recessive" }, { - "baseId": "227598|362286|362287|362288|362289|362290|362291|362292", + "upstreamId": "227598|362286|362287|362288|362289|362290|362291|362292", "text": "Chronic osteomyelitis" }, { - "baseId": "227654|227655", + "upstreamId": "227654|227655", "text": "Trichothiodystrophy 6, nonphotosensitive" }, { - "baseId": "227660", + "upstreamId": "227660", "text": "Chorea, childhood-onset, with psychomotor retardation" }, { - "baseId": "227683|614455|614456|704839|704840|716247|727998|728000|741675|741680|800124|800125|800126|961981|971122|982173|982174", + "upstreamId": "227683|614455|614456|704839|704840|716247|727998|728000|741675|741680|800124|800125|800126|961981|971122|982173|982174", "text": "Agammaglobulinemia 8, autosomal dominant" }, { - "baseId": "227687|406145|439048|451947|451948|452144|452292|452295|452408|511467|511468|518979|519155|519159|535699|558840|559381|562565|614258|614258|615905|650404|650405|650406|650407|650971|651022|651099|697936|743913|744025|781614|790357|790358|790359|790360|827710|827711|827712|827713|827714|827715|827716|906205|923096|923097|931837|931838|943418|943419|953397|964217|970761", + "upstreamId": "227687|406145|439048|451947|451948|452144|452292|452295|452408|511467|511468|518979|519155|519159|535699|558840|559381|562565|614258|614258|615905|650404|650405|650406|650407|650971|651022|651099|697936|743913|744025|781614|790357|790358|790359|790360|827710|827711|827712|827713|827714|827715|827716|906205|923096|923097|931837|931838|943418|943419|953397|964217|970761", "text": "Pierpont syndrome" }, { - "baseId": "227693|227694|227695", + "upstreamId": "227693|227694|227695", "text": "Increased histidine" }, { - "baseId": "227696|227697|227698|227699|227700|227701", + "upstreamId": "227696|227697|227698|227699|227700|227701", "text": "Pineoblastoma" }, { - "baseId": "227702|513442|623048|677011", + "upstreamId": "227702|513442|623048|677011", "text": "Myopathy, congenital, with tremor" }, { - "baseId": "227715|227716", + "upstreamId": "227715|227716", "text": "Premature ovarian failure 11" }, { - "baseId": "227741", + "upstreamId": "227741", "text": "Bisphosphonates response - Efficacy" }, { - "baseId": "227742", + "upstreamId": "227742", "text": "rituximab response - Efficacy" }, { - "baseId": "227743", + "upstreamId": "227743", "text": "hormonal contraceptives for systemic use response - Toxicity/ADR" }, { - "baseId": "227744", + "upstreamId": "227744", "text": "latanoprost response - Efficacy" }, { - "baseId": "227746", + "upstreamId": "227746", "text": "lamotrigine response - Other" }, { - "baseId": "227747", + "upstreamId": "227747", "text": "atazanavir response - Other" }, { - "baseId": "227748", + "upstreamId": "227748", "text": "cetuximab response - Efficacy" }, { - "baseId": "227750", + "upstreamId": "227750", "text": "oxazepam response - Other" }, { - "baseId": "227750", + "upstreamId": "227750", "text": "lorazepam response - Other" }, { - "baseId": "227751", + "upstreamId": "227751", "text": "nicotine response - Metabolism/PK" }, { - "baseId": "227752|227759|227775", + "upstreamId": "227752|227759|227775", "text": "pravastatin response - Efficacy" }, { - "baseId": "227752|227788", + "upstreamId": "227752|227788", "text": "HMG CoA reductase inhibitors response - Efficacy" }, { - "baseId": "227753|227761|227766", + "upstreamId": "227753|227761|227766", "text": "salbutamol response - Efficacy" }, { - "baseId": "227753", + "upstreamId": "227753", "text": "salmeterol response - Efficacy" }, { - "baseId": "227754", + "upstreamId": "227754", "text": "aspirin response - Toxicity/ADR" }, { - "baseId": "227756", + "upstreamId": "227756", "text": "hmg coa reductase inhibitors response - Efficacy, Toxicity/ADR" }, { - "baseId": "227756|963322|963323|963324", + "upstreamId": "227756|963322|963323|963324", "text": "LIPOPROTEIN(a) POLYMORPHISM" }, { - "baseId": "227757", + "upstreamId": "227757", "text": "etanercept response - Efficacy" }, { - "baseId": "227757", + "upstreamId": "227757", "text": "infliximab response - Efficacy" }, { - "baseId": "227757", + "upstreamId": "227757", "text": "Tumor necrosis factor alpha (TNF-alpha) inhibitors response - Efficacy" }, { - "baseId": "227757", + "upstreamId": "227757", "text": "adalimumab response - Efficacy" }, { - "baseId": "227758", + "upstreamId": "227758", "text": "fluoxetine response - Efficacy" }, { - "baseId": "227758|227777|227810", + "upstreamId": "227758|227777|227810", "text": "Selective serotonin reuptake inhibitors response - Efficacy" }, { - "baseId": "227758", + "upstreamId": "227758", "text": "mirtazapine response - Efficacy" }, { - "baseId": "227758|227777|227821", + "upstreamId": "227758|227777|227821", "text": "antidepressants response - Efficacy" }, { - "baseId": "227758", + "upstreamId": "227758", "text": "venlafaxine response - Efficacy" }, { - "baseId": "227758|362497", + "upstreamId": "227758|362497", "text": "paroxetine response - Efficacy" }, { - "baseId": "227761", + "upstreamId": "227761", "text": "selective beta-2-adrenoreceptor agonists response - Efficacy" }, { - "baseId": "227762|227767|227835", + "upstreamId": "227762|227767|227835", "text": "irinotecan response - Toxicity/ADR" }, { - "baseId": "227763", + "upstreamId": "227763", "text": "MDR1 POLYMORPHISM" }, { - "baseId": "227763|227805|227833", + "upstreamId": "227763|227805|227833", "text": "nevirapine response - Toxicity/ADR" }, { - "baseId": "227763", + "upstreamId": "227763", "text": "digoxin response - Other" }, { - "baseId": "227763", + "upstreamId": "227763", "text": "fentanyl response - Dosage, Efficacy" }, { - "baseId": "227764", + "upstreamId": "227764", "text": "sirolimus response - Dosage" }, { - "baseId": "227764", + "upstreamId": "227764", "text": "cyclosporine response - Dosage, Metabolism/PK" }, { - "baseId": "227764", + "upstreamId": "227764", "text": "tacrolimus response (donor genotype) - Dosage, Metabolism/PK" }, { - "baseId": "227764", + "upstreamId": "227764", "text": "tacrolimus response - Efficacy" }, { - "baseId": "227764", + "upstreamId": "227764", "text": "tacrolimus response (recipient genotype) - Dosage, Metabolism/PK" }, { - "baseId": "227764", + "upstreamId": "227764", "text": "sirolimus response - Metabolism/PK" }, { - "baseId": "227768|227792", + "upstreamId": "227768|227792", "text": "aspirin response - Efficacy" }, { - "baseId": "227770", + "upstreamId": "227770", "text": "clopidogrel response - Dosage, Efficacy, Toxicity/ADR" }, { - "baseId": "227770", + "upstreamId": "227770", "text": "citalopram response - Metabolism/PK" }, { - "baseId": "227770", + "upstreamId": "227770", "text": "escitalopram response - Metabolism/PK" }, { - "baseId": "227771", + "upstreamId": "227771", "text": "warfarin response - Dosage, Toxicity/ADR" }, { - "baseId": "227776|227794|227795", + "upstreamId": "227776|227794|227795", "text": "hydrochlorothiazide response - Efficacy" }, { - "baseId": "227777", + "upstreamId": "227777", "text": "Major depressive disorder, response to citalopram therapy in" }, { - "baseId": "227778", + "upstreamId": "227778", "text": "tenofovir response - Metabolism/PK" }, { - "baseId": "227779|227780|227830", + "upstreamId": "227779|227780|227830", "text": "hmg coa reductase inhibitors response - Toxicity/ADR" }, { - "baseId": "227781", + "upstreamId": "227781", "text": "warfarin response - Efficacy" }, { - "baseId": "227789|227809|362500|362501", + "upstreamId": "227789|227809|362500|362501", "text": "anthracyclines and related substances response - Toxicity/ADR" }, { - "baseId": "227791", + "upstreamId": "227791", "text": "triamcinolone response - Efficacy" }, { - "baseId": "227791", + "upstreamId": "227791", "text": "corticosteroids response - Efficacy" }, { - "baseId": "227791", + "upstreamId": "227791", "text": "fluticasone propionate response - Efficacy" }, { - "baseId": "227791", + "upstreamId": "227791", "text": "fluticasone/salmeterol response - Efficacy" }, { - "baseId": "227791", + "upstreamId": "227791", "text": "budesonide response - Efficacy" }, { - "baseId": "227795", + "upstreamId": "227795", "text": "diuretics response - Efficacy" }, { - "baseId": "227797", + "upstreamId": "227797", "text": "ziprasidone response - Toxicity/ADR" }, { - "baseId": "227797", + "upstreamId": "227797", "text": "paliperidone response - Toxicity/ADR" }, { - "baseId": "227797", + "upstreamId": "227797", "text": "haloperidol response - Toxicity/ADR" }, { - "baseId": "227797", + "upstreamId": "227797", "text": "amisulpride response - Toxicity/ADR" }, { - "baseId": "227797", + "upstreamId": "227797", "text": "quetiapine response - Toxicity/ADR" }, { - "baseId": "227797", + "upstreamId": "227797", "text": "aripiprazole response - Toxicity/ADR" }, { - "baseId": "227798", + "upstreamId": "227798", "text": "boceprevir, peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, simeprevir, and telaprevir response - Efficacy" }, { - "baseId": "227800", + "upstreamId": "227800", "text": "warfarin response - Other" }, { - "baseId": "227801|227802", + "upstreamId": "227801|227802", "text": "peginterferon alfa-2a, peginterferon alfa-2b, ribavirin, and telaprevir response - Efficacy" }, { - "baseId": "227801", + "upstreamId": "227801", "text": "peginterferon alfa-2a, peginterferon alfa-2b, and ribavirin response - Efficacy" }, { - "baseId": "227801|362509", + "upstreamId": "227801|362509", "text": "peginterferon alfa-2b response - Efficacy" }, { - "baseId": "227801|362509", + "upstreamId": "227801|362509", "text": "ribavirin response - Efficacy" }, { - "baseId": "227801", + "upstreamId": "227801", "text": "boceprevir response - Efficacy" }, { - "baseId": "227802", + "upstreamId": "227802", "text": "interferons, peginterferon alfa-2a, peginterferon alfa-2b, and ribavirin response - Efficacy" }, { - "baseId": "227806", + "upstreamId": "227806", "text": "cisplatin response - Efficacy" }, { - "baseId": "227806", + "upstreamId": "227806", "text": "oxaliplatin response - Efficacy" }, { - "baseId": "227806", + "upstreamId": "227806", "text": "platinum response - Efficacy" }, { - "baseId": "227806", + "upstreamId": "227806", "text": "Platinum compounds response - Efficacy" }, { - "baseId": "227807", + "upstreamId": "227807", "text": "platinum response - Toxicity/ADR" }, { - "baseId": "227808", + "upstreamId": "227808", "text": "platinum response - Efficacy, Toxicity/ADR" }, { - "baseId": "227808", + "upstreamId": "227808", "text": "carboplatin response - Efficacy, Toxicity/ADR" }, { - "baseId": "227808", + "upstreamId": "227808", "text": "Platinum compounds response - Efficacy, Toxicity/ADR" }, { - "baseId": "227808", + "upstreamId": "227808", "text": "oxaliplatin response - Efficacy, Toxicity/ADR" }, { - "baseId": "227811", + "upstreamId": "227811", "text": "caffeine response - Toxicity/ADR" }, { - "baseId": "227813", + "upstreamId": "227813", "text": "sildenafil response - Efficacy" }, { - "baseId": "227816|227822|227823|227824|227831|227834", + "upstreamId": "227816|227822|227823|227824|227831|227834", "text": "radiotherapy response - Toxicity/ADR" }, { - "baseId": "227817", + "upstreamId": "227817", "text": "metformin response - Efficacy" }, { - "baseId": "227819", + "upstreamId": "227819", "text": "gemcitabine response - Other" }, { - "baseId": "227820", + "upstreamId": "227820", "text": "risperidone response - Efficacy" }, { - "baseId": "227828", + "upstreamId": "227828", "text": "meperidine response - Dosage" }, { - "baseId": "227828", + "upstreamId": "227828", "text": "pentazocine response - Dosage" }, { - "baseId": "227828", + "upstreamId": "227828", "text": "morphine response - Dosage" }, { - "baseId": "227828", + "upstreamId": "227828", "text": "buprenorphine response - Dosage" }, { - "baseId": "227828", + "upstreamId": "227828", "text": "fentanyl response - Dosage" }, { - "baseId": "227828", + "upstreamId": "227828", "text": "opioids response - Dosage" }, { - "baseId": "227829", + "upstreamId": "227829", "text": "methotrexate response - Efficacy" }, { - "baseId": "227830", + "upstreamId": "227830", "text": "rosuvastatin response - Toxicity/ADR" }, { - "baseId": "227830", + "upstreamId": "227830", "text": "atorvastatin response - Toxicity/ADR" }, { - "baseId": "227832", + "upstreamId": "227832", "text": "etoposide response - Toxicity/ADR" }, { - "baseId": "227835", + "upstreamId": "227835", "text": "atazanavir and ritonavir response - Toxicity/ADR" }, { - "baseId": "227836|227837|227838|227839|227840", + "upstreamId": "227836|227837|227838|227839|227840", "text": "Bartter syndrome, type 5, antenatal, transient" }, { - "baseId": "227925", + "upstreamId": "227925", "text": "Familial Hypophosphatemic Rickets" }, { - "baseId": "227927", + "upstreamId": "227927", "text": "Premature ovarian failure 12" }, { - "baseId": "227929", + "upstreamId": "227929", "text": "CAP-congenital myopathy with arthrogryposis multiplex congenita without heart involvement" }, { - "baseId": "227930|227931|227932|227933|264323|264323|310950|423857|480565|790716|790717|792629|805009", + "upstreamId": "227930|227931|227932|227933|264323|264323|310950|423857|480565|790716|790717|792629|805009", "text": "PERCHING syndrome" }, { - "baseId": "227934|227935|227936|227937|227938|227939|227940|227941|227942|227943|227944|227945|227946|227947|227948|227949|227950|227951|227952|227953|227954|227955|227956|227957|227958|227959|227960|227961|227962|227963|227964|227965|227966|227967|227968|227969|227970|227971|227972|227973|227974|227975|227976|227977|227978|227979|227980|227981|227982|227983|227984|227985|227986|227987|227988|227989|227990|227991|227992|227993|227994|227995|227996|227997|227998|227999|228000|228001|228002|228003|228004|228005|228006|228007|228008|228009|228010|228011|228012|228013|228014|228015|228016|228017|228018|228019|228020|228021|228022|228023|228024|228025|228026|228027|228028|228029|228030|228031|228032|228033|228034|228035|228036|228037|228038|228039|228040|228041|228042|228043|228044|228045|228046|228047|228048|228049|228050|228051|228052|228053|228054|228055|228056|228057|228058|228059|228060|228061|228062|228063|228064|228065|228066|228067|228068|228069|228070|228071|228072|228073|228074|228075|228076|228077|228078|228079|228080|228081|228082|228083|228084|228085|228086|228087|228088|228089|228090|228091|228092|228093|228094|228095|228096|228097|228098", + "upstreamId": "227934|227935|227936|227937|227938|227939|227940|227941|227942|227943|227944|227945|227946|227947|227948|227949|227950|227951|227952|227953|227954|227955|227956|227957|227958|227959|227960|227961|227962|227963|227964|227965|227966|227967|227968|227969|227970|227971|227972|227973|227974|227975|227976|227977|227978|227979|227980|227981|227982|227983|227984|227985|227986|227987|227988|227989|227990|227991|227992|227993|227994|227995|227996|227997|227998|227999|228000|228001|228002|228003|228004|228005|228006|228007|228008|228009|228010|228011|228012|228013|228014|228015|228016|228017|228018|228019|228020|228021|228022|228023|228024|228025|228026|228027|228028|228029|228030|228031|228032|228033|228034|228035|228036|228037|228038|228039|228040|228041|228042|228043|228044|228045|228046|228047|228048|228049|228050|228051|228052|228053|228054|228055|228056|228057|228058|228059|228060|228061|228062|228063|228064|228065|228066|228067|228068|228069|228070|228071|228072|228073|228074|228075|228076|228077|228078|228079|228080|228081|228082|228083|228084|228085|228086|228087|228088|228089|228090|228091|228092|228093|228094|228095|228096|228097|228098", "text": "Abnormality of esophagus morphology" }, { - "baseId": "228099", + "upstreamId": "228099", "text": "Multiple sclerosis" }, { - "baseId": "228221", + "upstreamId": "228221", "text": "Spermatogenic failure 15" }, { - "baseId": "228225|228226", + "upstreamId": "228225|228226", "text": "Spinocerebellar ataxia, autosomal recessive 23" }, { - "baseId": "228227|228228|459810|587355|638653|638654|651994|692759|692760|836510|925719", + "upstreamId": "228227|228228|459810|587355|638653|638654|651994|692759|692760|836510|925719", "text": "Spastic paraplegia 62, autosomal recessive" }, { - "baseId": "228229", + "upstreamId": "228229", "text": "Spinocerebellar ataxia, autosomal recessive 22" }, { - "baseId": "228501|551614", + "upstreamId": "228501|551614", "text": "Usher syndrome, type 1M" }, { - "baseId": "229233|262311|262312|262313|438857|709587|920205|961271|963136|980454", + "upstreamId": "229233|262311|262312|262313|438857|709587|920205|961271|963136|980454", "text": "Aortic aneurysm, familial thoracic 10" }, { - "baseId": "230438|230439|918492", + "upstreamId": "230438|230439|918492", "text": "Autosomal recessive spastic ataxia" }, { - "baseId": "230449|335064|337038", + "upstreamId": "230449|335064|337038", "text": "Hirschsprung Disease, Recessive" }, { - "baseId": "230608|496630", + "upstreamId": "230608|496630", "text": "Idiopathic and/or familial pulmonary arterial hypertension" }, { - "baseId": "231319|581215", + "upstreamId": "231319|581215", "text": "Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis" }, { - "baseId": "231647|965275", + "upstreamId": "231647|965275", "text": "Cerebral hypomyelination" }, { - "baseId": "231839|263782|263783|354284|354294|361039|361140", + "upstreamId": "231839|263782|263783|354284|354294|361039|361140", "text": "Ataxia" }, { - "baseId": "231850|262392|262393|262394|262395|263761|265178|265179|333093|361950|361951|361952|361953|361954|373236|424224|424254|904878|904879|904880", + "upstreamId": "231850|262392|262393|262394|262395|263761|265178|265179|333093|361950|361951|361952|361953|361954|373236|424224|424254|904878|904879|904880", "text": "Behcet's syndrome" }, { - "baseId": "232770|233072", + "upstreamId": "232770|233072", "text": "B Lymphoblastic Leukemia/Lymphoma with t(9" }, { - "baseId": "232770|233072", + "upstreamId": "232770|233072", "text": "22)(q34.1" }, { - "baseId": "232770|233072", + "upstreamId": "232770|233072", "text": "q11.2)" }, { - "baseId": "232770|233072", + "upstreamId": "232770|233072", "text": " BCR-ABL1" }, { - "baseId": "233048|550674", + "upstreamId": "233048|550674", "text": "Duodenal adenocarcinoma" }, { - "baseId": "233829|306874|316668|316671|316967|316969|323029|331658|331659|331662|331668|331672|331679|331683|331684|331686|331694|331695|331701|331704|341907|341932|341934|341935|341942|341944|341945|341948|347270|347281|347290|347332|347335|347347|348571|348608|348613|348647|348649|348653|348656|348660|348670|353480|353481", + "upstreamId": "233829|306874|316668|316671|316967|316969|323029|331658|331659|331662|331668|331672|331679|331683|331684|331686|331694|331695|331701|331704|341907|341932|341934|341935|341942|341944|341945|341948|347270|347281|347290|347332|347335|347347|348571|348608|348613|348647|348649|348653|348656|348660|348670|353480|353481", "text": "Juvenile Polyposis" }, { - "baseId": "234717", + "upstreamId": "234717", "text": "Invasive Breast Carcinoma" }, { - "baseId": "236444|263275|639685", + "upstreamId": "236444|263275|639685", "text": "Colorectal polyposis" }, { - "baseId": "236524|236534|550879", + "upstreamId": "236524|236534|550879", "text": "Heritable Thoracic Aortic Disease" }, { - "baseId": "236524|236534", + "upstreamId": "236524|236534", "text": "Early age onset of sporadic thoracic aortic dissections" }, { - "baseId": "236721", + "upstreamId": "236721", "text": "AP4S1-related disorder" }, { - "baseId": "236722", + "upstreamId": "236722", "text": "APS41-Related disorder" }, { - "baseId": "236723|236724|236725|236726|236727|236728|299020|432294|432295|623283|963357", + "upstreamId": "236723|236724|236725|236726|236727|236728|299020|432294|432295|623283|963357", "text": "Hypercalcemia, infantile, 2" }, { - "baseId": "236724", + "upstreamId": "236724", "text": "SLC34A1-Related Disorders" }, { - "baseId": "236767", + "upstreamId": "236767", "text": "Atrioventricular block, idiopathic second-degree" }, { - "baseId": "236794", + "upstreamId": "236794", "text": "Short QT Syndrome 4" }, { - "baseId": "236837|236838|236852", + "upstreamId": "236837|236838|236852", "text": "Lobar holoprosencephaly" }, { - "baseId": "236846", + "upstreamId": "236846", "text": "Alobar holoprosencephaly" }, { - "baseId": "236849|236855|236856", + "upstreamId": "236849|236855|236856", "text": "Semilobar holoprosencephaly" }, { - "baseId": "236861", + "upstreamId": "236861", "text": "Serum level of adiponectin 1" }, { - "baseId": "236863|513257", + "upstreamId": "236863|513257", "text": "Deafness, autosomal dominant 70" }, { - "baseId": "236864", + "upstreamId": "236864", "text": "Deafness, autosomal dominant 66" }, { - "baseId": "236877|236878|550159|550160|550161|550162|550163|626071|626072", + "upstreamId": "236877|236878|550159|550160|550161|550162|550163|626071|626072", "text": "Deafness, autosomal recessive 32" }, { - "baseId": "236880|682580|682582|682583|682584", + "upstreamId": "236880|682580|682582|682583|682584", "text": "Developmental and epileptic encephalopathy, 81" }, { - "baseId": "236882|236883|236884|236885|236886|236887|236888|236889", + "upstreamId": "236882|236883|236884|236885|236886|236887|236888|236889", "text": "Spondyloepimetaphyseal dysplasia, Genevieve type" }, { - "baseId": "236890", + "upstreamId": "236890", "text": "Cataract Hutterite type" }, { - "baseId": "236891|236892|466937|532135|532142|570041|571837|574705|574706|574707|622849|647076|647077|694242|694243|694244|694245|694246|694247|694248|695788|704528|715875|785834|846674|846675|846676|938379|950454|958433", + "upstreamId": "236891|236892|466937|532135|532142|570041|571837|574705|574706|574707|622849|647076|647077|694242|694243|694244|694245|694246|694247|694248|695788|704528|715875|785834|846674|846675|846676|938379|950454|958433", "text": "Situs inversus totalis" }, { - "baseId": "236891|236892|700109|730496|861285|920240|920241", + "upstreamId": "236891|236892|700109|730496|861285|920240|920241", "text": "Heterotaxy, visceral, 8, autosomal" }, { - "baseId": "236924|313219|313220|313223|313240|319379|325499|326446|326455|326461", + "upstreamId": "236924|313219|313220|313223|313240|319379|325499|326446|326455|326461", "text": "Antenatal Bartter Syndrome" }, { - "baseId": "236942|438516|438517|859599|919097|919098", + "upstreamId": "236942|438516|438517|859599|919097|919098", "text": "Sweeney-Cox syndrome" }, { - "baseId": "237072|289545|293412|293416|322708|330040|334414|350417|551991|967232", + "upstreamId": "237072|289545|293412|293416|322708|330040|334414|350417|551991|967232", "text": "Spermatogenic Failure" }, { - "baseId": "237250|253111|253112|253114|253115|253117|253118|253119|253120|253121|253124|253125|253126|253127|253128|253129|253130|253132|253133|253134|253135|253136|253137|253139|253140|253141|253142|253143|305249|305258|305260|305267|305272|305279|305291|305295|305302|305304|305308|305309|305310|305312|305318|305323|305327|305330|309065|309068|309070|309073|309075|309076|309078|309084|309087|309091|309110|309117|309121|309136|309152|309153|309154|309159|309161|309162|309163|309167|314271|314274|314286|314288|314292|314293|314299|314300|314328|314329|314330|314332|314339|314341|314346|314351|314359|314368|314371|314372|314374|314375|314376|314383|314384|314385|314386|314387|314388|314391|314392|314398|314399|314400|314402|314407|314409|314410|314411|314412|314413|314415|314417|314423|314424|314425|314426|609694|609698|711527|723086|723087|736649|736650|736654|751140|751148|751154|751155|766806|799547|799548|899535|899536|899537|899538|899539|899540|899541|899542|899543|899544|899545|899546|899547|899548|899549|899550|899551|899552|899553|899554|899555|899556|899557|899559|899560|899562|899563|899564|899566|899567|899568|899569|899570|899571|899572|899573|899574|899575|899576|899577|899578|899579|899580|899581|899582|899583|899584|899585|899586|899587|899588|899590|899591|899592|899593|899594|899595|899597|899600|899601|899602|899603|899604|899605|899606|900493|900494|900495|900496|900497|900498|900499", + "upstreamId": "237250|253111|253112|253114|253115|253117|253118|253119|253120|253121|253124|253125|253126|253127|253128|253129|253130|253132|253133|253134|253135|253136|253137|253139|253140|253141|253142|253143|305249|305258|305260|305267|305272|305279|305291|305295|305302|305304|305308|305309|305310|305312|305318|305323|305327|305330|309065|309068|309070|309073|309075|309076|309078|309084|309087|309091|309110|309117|309121|309136|309152|309153|309154|309159|309161|309162|309163|309167|314271|314274|314286|314288|314292|314293|314299|314300|314328|314329|314330|314332|314339|314341|314346|314351|314359|314368|314371|314372|314374|314375|314376|314383|314384|314385|314386|314387|314388|314391|314392|314398|314399|314400|314402|314407|314409|314410|314411|314412|314413|314415|314417|314423|314424|314425|314426|609694|609698|711527|723086|723087|736649|736650|736654|751140|751148|751154|751155|766806|799547|799548|899535|899536|899537|899538|899539|899540|899541|899542|899543|899544|899545|899546|899547|899548|899549|899550|899551|899552|899553|899554|899555|899556|899557|899559|899560|899562|899563|899564|899566|899567|899568|899569|899570|899571|899572|899573|899574|899575|899576|899577|899578|899579|899580|899581|899582|899583|899584|899585|899586|899587|899588|899590|899591|899592|899593|899594|899595|899597|899600|899601|899602|899603|899604|899605|899606|900493|900494|900495|900496|900497|900498|900499", "text": "Spherocytosis" }, { - "baseId": "237327|268471|776419", + "upstreamId": "237327|268471|776419", "text": "Glutaric acidemia type 2A" }, { - "baseId": "237378", + "upstreamId": "237378", "text": "Mitochondrial-DNA disorder" }, { - "baseId": "237520|354280", + "upstreamId": "237520|354280", "text": "Atrial septal defect 1" }, { - "baseId": "237522|362622|362623|362624|407131|407132|481277|481278|495323|511710|513425|536188|613829|677426|788816|815987|919104|920587|920588|961284|964833", + "upstreamId": "237522|362622|362623|362624|407131|407132|481277|481278|495323|511710|513425|536188|613829|677426|788816|815987|919104|920587|920588|961284|964833", "text": "Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder" }, { - "baseId": "237539", + "upstreamId": "237539", "text": "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 11, WITH OR WITHOUT MILD PALMOPLANTAR KERATODERMA" }, { - "baseId": "237573|237574|237575|237576|237577|237578|237579|237580|237581|259766|259766|431536|432459|440803|511499|513174|576106|609019|918832|920194|965886|966847|976008", + "upstreamId": "237573|237574|237575|237576|237577|237578|237579|237580|237581|259766|259766|431536|432459|440803|511499|513174|576106|609019|918832|920194|965886|966847|976008", "text": "Gillespie syndrome" }, { - "baseId": "237603|237628|802084", + "upstreamId": "237603|237628|802084", "text": "Deafness, autosomal dominant 51" }, { - "baseId": "237711|237712|237713|237714|237715|237716|237717|237718|237719|237720|237721|237722|237723|237724|237725|237726|237727|237728|237729|237730|237731|237732|237733|237734|237735|237736|237737|237738|237739|237740|237741|237742|237743|237744|237745|237746|237747|237748|237749", + "upstreamId": "237711|237712|237713|237714|237715|237716|237717|237718|237719|237720|237721|237722|237723|237724|237725|237726|237727|237728|237729|237730|237731|237732|237733|237734|237735|237736|237737|237738|237739|237740|237741|237742|237743|237744|237745|237746|237747|237748|237749", "text": "Prednisolone response" }, { - "baseId": "237756|237757|513467|552203|581856|581857|581858|581862|791748", + "upstreamId": "237756|237757|513467|552203|581856|581857|581858|581862|791748", "text": "Congenital hypomyelinating neuropathy 3" }, { - "baseId": "237763|237764|247578|247579", + "upstreamId": "237763|237764|247578|247579", "text": "Mitochondrial complex 1 deficiency, nuclear type 29" }, { - "baseId": "237793|237794|237795|237796|237797|409448|424493", + "upstreamId": "237793|237794|237795|237796|237797|409448|424493", "text": "You-Hoover-Fong syndrome" }, { - "baseId": "237802|237803|237804|237805|431541|792590|904108|919991|962144", + "upstreamId": "237802|237803|237804|237805|431541|792590|904108|919991|962144", "text": "Immunodeficiency 47" }, { - "baseId": "237816|371356|614013|614014|614016|614018|614019|614049|614050|614137|654159", + "upstreamId": "237816|371356|614013|614014|614016|614018|614019|614049|614050|614137|654159", "text": "Chromosome 15q11-q13 duplication syndrome" }, { - "baseId": "237854", + "upstreamId": "237854", "text": "KCNT2-related condition" }, { - "baseId": "237854|683210|683211|789896|794511|975909", + "upstreamId": "237854|683210|683211|789896|794511|975909", "text": "Developmental and epileptic encephalopathy, 57" }, { - "baseId": "238102|238103|238104", + "upstreamId": "238102|238103|238104", "text": "Monosomy 21" }, { - "baseId": "238265|359237|391124|391125|391129|391165|391168|391184|391213|391218|391222|391300|391301|391308|405137|439845|439846|439847|439848|439849|439850|439851|439852|439853|439854|439855|439857|439858|439859|439860|439861|515740|515744|515745|515749|515780|515782|515785|515786|515793|515794|515800|515820|515823|515833|515839|515849|515851|515871|556502|556942|556944|556946|556948|556991|556997|556998|557232|557234|558457|558459|558461|558465|578806|627690|627691|627692|627693|627694|627695|627696|627697|627698|627699|627700|627701|627702|627703|650581|650590|650731|683317|683318|685093|685094|685684|685687|685689|685691|685692|685695|689653|690571|696631|746371|746372|761826|778817|780642|780643|821839|821840|821841|823824|823825|823826|823827|823828|823829|823830|823831|823832|823833|921963|921964|921965|921966|921967|921968|930436|930437|930438|930439|940629|941894|941895|941896|941897|952371|952372|952373|952374", + "upstreamId": "238265|359237|391124|391125|391129|391165|391168|391184|391213|391218|391222|391300|391301|391308|405137|439845|439846|439847|439848|439849|439850|439851|439852|439853|439854|439855|439857|439858|439859|439860|439861|515740|515744|515745|515749|515780|515782|515785|515786|515793|515794|515800|515820|515823|515833|515839|515849|515851|515871|556502|556942|556944|556946|556948|556991|556997|556998|557232|557234|558457|558459|558461|558465|578806|627690|627691|627692|627693|627694|627695|627696|627697|627698|627699|627700|627701|627702|627703|650581|650590|650731|683317|683318|685093|685094|685684|685687|685689|685691|685692|685695|689653|690571|696631|746371|746372|761826|778817|780642|780643|821839|821840|821841|823824|823825|823826|823827|823828|823829|823830|823831|823832|823833|921963|921964|921965|921966|921967|921968|930436|930437|930438|930439|940629|941894|941895|941896|941897|952371|952372|952373|952374", "text": "heterogeneous nuclear ribonucleoprotein G, human" }, { - "baseId": "238719", + "upstreamId": "238719", "text": "Low grade fibromyxoid sarcoma" }, { - "baseId": "239061|292174|353611", + "upstreamId": "239061|292174|353611", "text": "Hypocalcemia" }, { - "baseId": "239296|537417", + "upstreamId": "239296|537417", "text": "CRELD1-related condition" }, { - "baseId": "239498|434459", + "upstreamId": "239498|434459", "text": "Regorafenib response" }, { - "baseId": "239674", + "upstreamId": "239674", "text": "TERT-associated disorder" }, { - "baseId": "240451|311450|392291|414094|414095|414141|414142|414180|414278|538468|539168|539169|539170|539171|539172|539173|539174|539175|539176|539177|539178|539179|539180|539181|539413", + "upstreamId": "240451|311450|392291|414094|414095|414141|414142|414180|414278|538468|539168|539169|539170|539171|539172|539173|539174|539175|539176|539177|539178|539179|539180|539181|539413", "text": "Pulmonary arterial hypertension associated with congenital heart disease" }, { - "baseId": "240683|654531|672222|672223|672224|672225|672226|672227|672228|672239|672240|672255|672256|672311|672312|672313|672317", + "upstreamId": "240683|654531|672222|672223|672224|672225|672226|672227|672228|672239|672240|672255|672256|672311|672312|672313|672317", "text": "Congenital hydrocephalus" }, { - "baseId": "240900|454614|462979", + "upstreamId": "240900|454614|462979", "text": "Anomalous origin of coronary artery from the pulmonary artery" }, { - "baseId": "240900|260878|454614|462979|590054", + "upstreamId": "240900|260878|454614|462979|590054", "text": "Cough" }, { - "baseId": "241527|398855|461811|571612|610483|970956", + "upstreamId": "241527|398855|461811|571612|610483|970956", "text": "Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency" }, { - "baseId": "241578", + "upstreamId": "241578", "text": "Ataxia, spastic, 1, autosomal dominant" }, { - "baseId": "241599|373488|399258|608923|608924|608925|608926|608927|608929|614671|614672|614673|614674|614675|614676|614677", + "upstreamId": "241599|373488|399258|608923|608924|608925|608926|608927|608929|614671|614672|614673|614674|614675|614676|614677", "text": "Otitis media" }, { - "baseId": "242569|401431|422134|445685|467249|467261", + "upstreamId": "242569|401431|422134|445685|467249|467261", "text": "Skin/hair/eye pigmentation, variation in, 2" }, { - "baseId": "243321", + "upstreamId": "243321", "text": "Autosomal dominant familial acute myeloid leukemia" }, { - "baseId": "243381", + "upstreamId": "243381", "text": "TRPM4-Related Disorders" }, { - "baseId": "243654", + "upstreamId": "243654", "text": "Schwannoma" }, { - "baseId": "243654", + "upstreamId": "243654", "text": "Peripheral Schwannoma" }, { - "baseId": "243827", + "upstreamId": "243827", "text": "Cerebral palsy, spastic quadriplegic, 3" }, { - "baseId": "243871|243874|243876|243879|513521|551282|578396|623252|654146|679243|679246|790143|790144|798490|798491|816442|858588|964010|970730|973099|973100", + "upstreamId": "243871|243874|243876|243879|513521|551282|578396|623252|654146|679243|679246|790143|790144|798490|798491|816442|858588|964010|970730|973099|973100", "text": "Neurodevelopmental disorder with hypotonia, seizures, and absent language" }, { - "baseId": "243891|243892|243894|613609|679951", + "upstreamId": "243891|243892|243894|613609|679951", "text": "Nonsyndromic cleft lip with or without cleft palate" }, { - "baseId": "243919|243920|440047|440048|679720|802244|804848|919123|962162|964108|970868", + "upstreamId": "243919|243920|440047|440048|679720|802244|804848|919123|962162|964108|970868", "text": "Ataxia-pancytopenia syndrome" }, { - "baseId": "243919|440047|976561|976562", + "upstreamId": "243919|440047|976561|976562", "text": "Monosomy 7 of bone marrow" }, { - "baseId": "243981|243982|243983|961058|961059|961060|961061", + "upstreamId": "243981|243982|243983|961058|961059|961060|961061", "text": "Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities" }, { - "baseId": "243985", + "upstreamId": "243985", "text": "Laryngeal hypoplasia" }, { - "baseId": "243993", + "upstreamId": "243993", "text": "Cerebellar cortical atrophy" }, { - "baseId": "244016|679678", + "upstreamId": "244016|679678", "text": "Renal hypoplasia (disease)" }, { - "baseId": "244018|360846|971562", + "upstreamId": "244018|360846|971562", "text": "Language impairment" }, { - "baseId": "244020", + "upstreamId": "244020", "text": "Effort-induced polymorphic ventricular tachycardias" }, { - "baseId": "244026|244027|244028|244029|244030|440224|440225|440226", + "upstreamId": "244026|244027|244028|244029|244030|440224|440225|440226", "text": "Hypermanganesemia with dystonia 2" }, { - "baseId": "244031|818308|971001", + "upstreamId": "244031|818308|971001", "text": "Lethal congenital contracture syndrome 10" }, { - "baseId": "244032", + "upstreamId": "244032", "text": "Arthrogryposis, perthes disease, and upward gaze palsy" }, { - "baseId": "244034|244035|905050", + "upstreamId": "244034|244035|905050", "text": "Retinitis pigmentosa 75" }, { - "baseId": "244036", + "upstreamId": "244036", "text": "Autosomal Recessive Hypotrichosis with Woolly Hair" }, { - "baseId": "244066|244067|244068", + "upstreamId": "244066|244067|244068", "text": "Night blindness, congenital stationary, type 1h" }, { - "baseId": "244070|244082", + "upstreamId": "244070|244082", "text": "Nevus comedonicus" }, { - "baseId": "244071|858395|904201", + "upstreamId": "244071|858395|904201", "text": "Retinal dystrophy with leukodystrophy" }, { - "baseId": "244075|244076|244077|977391|977392", + "upstreamId": "244075|244076|244077|977391|977392", "text": "Pyle metaphyseal dysplasia" }, { - "baseId": "244104", + "upstreamId": "244104", "text": "Mental retardation, autosomal recessive 54" }, { - "baseId": "244107|244108|622422|971621|971622", + "upstreamId": "244107|244108|622422|971621|971622", "text": "Myopathy, distal, 5" }, { - "baseId": "244130|244131|244132", + "upstreamId": "244130|244131|244132", "text": "Patent ductus arteriosus 3" }, { - "baseId": "244144|614081", + "upstreamId": "244144|614081", "text": "Specific language impairment 5" }, { - "baseId": "244158|590743|590744", + "upstreamId": "244158|590743|590744", "text": "PMP2-related Charcot-Marie-Tooth disease type 1" }, { - "baseId": "244173|244174", + "upstreamId": "244173|244174", "text": "X-linked spondyloepimetaphyseal dysplasia" }, { - "baseId": "244179", + "upstreamId": "244179", "text": "Dystonia, intellectual disability and language impairment" }, { - "baseId": "244523|305882|309947|315140|315160|315209|315217|315221|315300", + "upstreamId": "244523|305882|309947|315140|315160|315209|315217|315221|315300", "text": "Charcot-Marie-Tooth with Vocal Cord Paresis" }, { - "baseId": "244873|841022|961527|961528|977267", + "upstreamId": "244873|841022|961527|961528|977267", "text": "DYNC1H1-related neurodevelopmental disorders" }, { - "baseId": "245163|263366|800976|920542", + "upstreamId": "245163|263366|800976|920542", "text": "Neutropenia" }, { - "baseId": "246859|535693", + "upstreamId": "246859|535693", "text": "Diarrhea 9" }, { - "baseId": "246941", + "upstreamId": "246941", "text": "TBL1XR1-related neurodevelopmental disorders, including Pierpont syndrome" }, { - "baseId": "246962", + "upstreamId": "246962", "text": "Pseudohypoaldosteronism" }, { - "baseId": "246979|263334|394904|394905|431889|520947|521375|551742|551749|633665|683726|792587|963088", + "upstreamId": "246979|263334|394904|394905|431889|520947|521375|551742|551749|633665|683726|792587|963088", "text": "Hypoplastic left heart syndrome" }, { - "baseId": "247012|961777|961778", + "upstreamId": "247012|961777|961778", "text": "Saccharopinuria" }, { - "baseId": "247055|263254|263285|263783|550227|553415|969759", + "upstreamId": "247055|263254|263285|263783|550227|553415|969759", "text": "Robin sequence" }, { - "baseId": "247084", + "upstreamId": "247084", "text": "CEP290-related ciliopathies" }, { - "baseId": "247168|424691|424692|424693|424694|431511|624868|626276|626405|791938|903636|919871|919872|919873|919874|919875|919876|920410|961544|971136|971137|971138", + "upstreamId": "247168|424691|424692|424693|424694|431511|624868|626276|626405|791938|903636|919871|919872|919873|919874|919875|919876|920410|961544|971136|971137|971138", "text": "Intellectual disability, autosomal dominant 45" }, { - "baseId": "247170|359090|359091", + "upstreamId": "247170|359090|359091", "text": "Dehydrated hereditary stomatocytosis 2" }, { - "baseId": "247173", + "upstreamId": "247173", "text": "Inflammatory bowel disease 30" }, { - "baseId": "247328|247329|247330|247331|247332|260464|260465|260466|410844|434679|446312|538493|609241|609242|609243|609244|609245|609246|609247|609248|609249|609250|619906|622475|792006|815961|857694|861659|919933|961643|964545|975941|980395", + "upstreamId": "247328|247329|247330|247331|247332|260464|260465|260466|410844|434679|446312|538493|609241|609242|609243|609244|609245|609246|609247|609248|609249|609250|619906|622475|792006|815961|857694|861659|919933|961643|964545|975941|980395", "text": "ZTTK syndrome" }, { - "baseId": "247359", + "upstreamId": "247359", "text": "Acute hepatic failure" }, { - "baseId": "247359|971088", + "upstreamId": "247359|971088", "text": "Mitochondrial DNA depletion syndrome 16 (hepatic type)" }, { - "baseId": "247400|247401", + "upstreamId": "247400|247401", "text": "Ossifying fibroma of the jaw" }, { - "baseId": "247420|247421|247422", + "upstreamId": "247420|247421|247422", "text": "Vas deferens, congenital bilateral aplasia of, X-linked" }, { - "baseId": "247424|247428", + "upstreamId": "247424|247428", "text": "Retinal dystrophy with or without extraocular anomalies" }, { - "baseId": "247426|247427", + "upstreamId": "247426|247427", "text": "RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES" }, { - "baseId": "247432", + "upstreamId": "247432", "text": "Blood group antigen abnormality" }, { - "baseId": "247437|469318|470285|470288|533432|533513|533992|571140|573458|573462|648566|648567|648568|694988|706478|778566|788297|791967|805111|848195|848196|929138|929139|938902|938903|950976|960309|974505", + "upstreamId": "247437|469318|470285|470288|533432|533513|533992|571140|573458|573462|648566|648567|648568|694988|706478|778566|788297|791967|805111|848195|848196|929138|929139|938902|938903|950976|960309|974505", "text": "Myasthenic syndrome, congenital, 18" }, { - "baseId": "247440|247619", + "upstreamId": "247440|247619", "text": "Silver-russell syndrome 4" }, { - "baseId": "247441|247442|905833|905836", + "upstreamId": "247441|247442|905833|905836", "text": "Silver-Russell syndrome 5" }, { - "baseId": "247450|247451|626248", + "upstreamId": "247450|247451|626248", "text": "Porokeratosis 7, multiple types" }, { - "baseId": "247452|247453", + "upstreamId": "247452|247453", "text": "Porokeratosis of Mibelli" }, { - "baseId": "247468|247469|622518", + "upstreamId": "247468|247469|622518", "text": "Tooth agenesis, selective, 8" }, { - "baseId": "247470|249563|249564|447309|447314|447319|447321|447433|447435|447436|447438|447526|447534|447535|447536|447537|447546|447550|513406|515319|515320|515341|515381|515390|515397|556494|556702|556704|556706|556708|556751|556753|556755|556757|557062|557064|627130|627131|627132|627133|627134|627135|627136|627137|627138|627139|627140|627141|627142|627143|650652|650654|650660|650670|650696|690426|690427|696297|706901|745860|745861|780384|792713|823022|823023|823024|823025|823026|823027|823028|823029|823030|823031|823032|823033|823034|823035|823036|823037|823038|823039|823040|850744|851243|921758|921759|921760|921761|921762|921763|930176|930177|939782|940610|940611|941584|941585|941586|941587|941588|941589|941590|941591|952151|952152|952153|952154|952155|952156|952157|960413", + "upstreamId": "247470|249563|249564|447309|447314|447319|447321|447433|447435|447436|447438|447526|447534|447535|447536|447537|447546|447550|513406|515319|515320|515341|515381|515390|515397|556494|556702|556704|556706|556708|556751|556753|556755|556757|557062|557064|627130|627131|627132|627133|627134|627135|627136|627137|627138|627139|627140|627141|627142|627143|650652|650654|650660|650670|650696|690426|690427|696297|706901|745860|745861|780384|792713|823022|823023|823024|823025|823026|823027|823028|823029|823030|823031|823032|823033|823034|823035|823036|823037|823038|823039|823040|850744|851243|921758|921759|921760|921761|921762|921763|930176|930177|939782|940610|940611|941584|941585|941586|941587|941588|941589|941590|941591|952151|952152|952153|952154|952155|952156|952157|960413", "text": "Muscular dystrophy, limb-girdle, type 2y" }, { - "baseId": "247472", + "upstreamId": "247472", "text": "Mauriac syndrome" }, { - "baseId": "247473|247474", + "upstreamId": "247473|247474", "text": "MITOCHONDRIAL DNA DEPLETION SYNDROME 3" }, { - "baseId": "247481|247482|247483|247484|247485|424624|550857|551435|791485|919597", + "upstreamId": "247481|247482|247483|247484|247485|424624|550857|551435|791485|919597", "text": "Witteveen-kolk syndrome" }, { - "baseId": "247491|247492|247493|247494|247495|247496|247497|353885|443697|511569|535302|611387|623282|626148|654149|798552|818628|818630|861565|861621|964025|964239|964240|964241|964242|964659|964920|967267|969562|970799|977209|977210|977211|977212", + "upstreamId": "247491|247492|247493|247494|247495|247496|247497|353885|443697|511569|535302|611387|623282|626148|654149|798552|818628|818630|861565|861621|964025|964239|964240|964241|964242|964659|964920|967267|969562|970799|977209|977210|977211|977212", "text": "Mental retardation, autosomal dominant 44" }, { - "baseId": "247497|443697|818626|818627|918924|918928|966336|966337", + "upstreamId": "247497|443697|818626|818627|918924|918928|966336|966337", "text": "Intellectual developmental disorder, autosomal dominant 63, with macrocephaly" }, { - "baseId": "247503", + "upstreamId": "247503", "text": "ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT" }, { - "baseId": "247505|247506", + "upstreamId": "247505|247506", "text": "Parkinson disease 19b, early-onset" }, { - "baseId": "247507", + "upstreamId": "247507", "text": "Epileptic encephalopathy, early infantile, 40" }, { - "baseId": "247508|247509|247510|247511|247512|247513|247514|247515|247516|609335|609336|609337|611347|623232", + "upstreamId": "247508|247509|247510|247511|247512|247513|247514|247515|247516|609335|609336|609337|611347|623232", "text": "Meier-gorlin syndrome 7" }, { - "baseId": "247517|361251|470897|471921|471923|472171|472172|472173|534897|534901|534902|534932|572554|574819|574821|575438|650141|650142|653814|694912|850209|939657|959330", + "upstreamId": "247517|361251|470897|471921|471923|472171|472172|472173|534897|534901|534902|534932|572554|574819|574821|575438|650141|650142|653814|694912|850209|939657|959330", "text": "Wilson-Turner X-linked mental retardation syndrome" }, { - "baseId": "247529|965289", + "upstreamId": "247529|965289", "text": "Muscular dystrophy, congenital, davignon-chauveau type" }, { - "baseId": "247530|247531|247532|247533|247534|458427|458428|458434|458441|458445|458447|458452|458899|458902|458906|458940|458950|458951|459422|459431|524371|524372|524378|524641|562847|563569|563574|565588|568320|568565|568567|568574|568577|637790|637791|677157|692598|820078|835580|835581|835582|835583|904228|925410|925411|934575|934576|946398|946399", + "upstreamId": "247530|247531|247532|247533|247534|458427|458428|458434|458441|458445|458447|458452|458899|458902|458906|458940|458950|458951|459422|459431|524371|524372|524378|524641|562847|563569|563574|565588|568320|568565|568567|568574|568577|637790|637791|677157|692598|820078|835580|835581|835582|835583|904228|925410|925411|934575|934576|946398|946399", "text": "Neuropathy, hereditary sensory and autonomic, type VIII" }, { - "baseId": "247538|247539", + "upstreamId": "247538|247539", "text": "Cardiomyopathy, familial restrictive, 5" }, { - "baseId": "247538", + "upstreamId": "247538", "text": "FLNC-Related Disorders" }, { - "baseId": "247540|247543|247544|247545|485919", + "upstreamId": "247540|247543|247544|247545|485919", "text": "POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE" }, { - "baseId": "247542", + "upstreamId": "247542", "text": "POLYCYSTIC KIDNEY DISEASE 3 WITHOUT POLYCYSTIC LIVER DISEASE" }, { - "baseId": "247552|247553|247554|247555|626013", + "upstreamId": "247552|247553|247554|247555|626013", "text": "Striatonigral degeneration, childhood-onset" }, { - "baseId": "247556", + "upstreamId": "247556", "text": "Hermansky-Pudlak syndrome 10" }, { - "baseId": "247557|260444|260445|260945|434657|434658|918497", + "upstreamId": "247557|260444|260445|260945|434657|434658|918497", "text": "Infantile encephalopathy" }, { - "baseId": "247558|247559", + "upstreamId": "247558|247559", "text": "Hyperuricemic nephropathy, familial juvenile, 4" }, { - "baseId": "247561", + "upstreamId": "247561", "text": "PEHO-like syndrome" }, { - "baseId": "247562|480538|480539|626055", + "upstreamId": "247562|480538|480539|626055", "text": "MICROPHTHALMIA, SYNDROMIC 15" }, { - "baseId": "247563|247564|247565|511728|550604|578464|622382|789153|969606|973626|980558", + "upstreamId": "247563|247564|247565|511728|550604|578464|622382|789153|969606|973626|980558", "text": "Mirage syndrome" }, { - "baseId": "247576", + "upstreamId": "247576", "text": "Camptosynpolydactyly, complex" }, { - "baseId": "247581|610633|621029|621030|679775|919332|919333|919334", + "upstreamId": "247581|610633|621029|621030|679775|919332|919333|919334", "text": "Mental retardation, autosomal recessive 55" }, { - "baseId": "247586", + "upstreamId": "247586", "text": "Nasopalpebral lipoma-coloboma syndrome" }, { - "baseId": "247591", + "upstreamId": "247591", "text": "Nasopharyngeal carcinoma, susceptibility to, 3" }, { - "baseId": "247611|414917|496338|537440|795353|795355|918808|918809", + "upstreamId": "247611|414917|496338|537440|795353|795355|918808|918809", "text": "Spinocerebellar ataxia 43" }, { - "baseId": "247614|521968|563348|565353|565356|634520|634521|699279|710143|721689|735386|790576|831470|933146|933147|954332", + "upstreamId": "247614|521968|563348|565353|565356|634520|634521|699279|710143|721689|735386|790576|831470|933146|933147|954332", "text": "Congenital disorder of glycosylation, type Iaa" }, { - "baseId": "247614|480768|480769|480770|798567", + "upstreamId": "247614|480768|480769|480770|798567", "text": "Intellectual disability, autosomal dominant 55, with seizures" }, { - "baseId": "247643", + "upstreamId": "247643", "text": "Acute myeloid leukemia, M6 type" }, { - "baseId": "247749|247750|247751|971553|971554|971555", + "upstreamId": "247749|247750|247751|971553|971554|971555", "text": "Short-rib thoracic dysplasia 16 with or without polydactyly" }, { - "baseId": "247758|247759", + "upstreamId": "247758|247759", "text": "Pituitary adenoma, familial isolated" }, { - "baseId": "247765|247766|247767|247768|247769|247770|550232|550233|626190|816365|816366", + "upstreamId": "247765|247766|247767|247768|247769|247770|550232|550233|626190|816365|816366", "text": "Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy" }, { - "baseId": "247776|247777|576147|679721", + "upstreamId": "247776|247777|576147|679721", "text": "Ciliary dyskinesia, primary, 34" }, { - "baseId": "248477|248477|415438", + "upstreamId": "248477|248477|415438", "text": "Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia" }, { - "baseId": "248477|248477|263624|263625|263626|263627|263628|415438|445389", + "upstreamId": "248477|248477|263624|263625|263626|263627|263628|415438|445389", "text": "Intellectual developmental disorder with cardiac arrhythmia" }, { - "baseId": "248544|248545|248546|248547|248548|248549|248550|248551|248552|248553|248554|248555|248556|248557|248558|248559|248560|248561|248562|248563|248564|248565|248566|248567|248568|248569|262525", + "upstreamId": "248544|248545|248546|248547|248548|248549|248550|248551|248552|248553|248554|248555|248556|248557|248558|248559|248560|248561|248562|248563|248564|248565|248566|248567|248568|248569|262525", "text": "Oromandibular-limb hypogenesis spectrum" }, { - "baseId": "248553|248554|270213|270215|298428|298429|298436|298438|298439|298443|298444|300763|300767|300769|300773|300774|300780|305145|305148|305152|305154|305156|305269|305270|305273|305275|305287|305294|305296|305299|305300|428475|735294|735298|749704|801814|895033|895034|895035|895036|895037|895038|895039|895040|895041|895042|895043|895044|895045|895046|895047|895048|895049|895050|895051|895052|895053|895054|895055|895056|895057|895058|895059|895060|895061|895062|895063|895064", + "upstreamId": "248553|248554|270213|270215|298428|298429|298436|298438|298439|298443|298444|300763|300767|300769|300773|300774|300780|305145|305148|305152|305154|305156|305269|305270|305273|305275|305287|305294|305296|305299|305300|428475|735294|735298|749704|801814|895033|895034|895035|895036|895037|895038|895039|895040|895041|895042|895043|895044|895045|895046|895047|895048|895049|895050|895051|895052|895053|895054|895055|895056|895057|895058|895059|895060|895061|895062|895063|895064", "text": "Obesity due to SIM1 deficiency" }, { - "baseId": "248575|248576|248577", + "upstreamId": "248575|248576|248577", "text": "Autoinflammation, panniculitis, and dermatosis syndrome" }, { - "baseId": "248578|248579|788910|857600", + "upstreamId": "248578|248579|788910|857600", "text": "Ciliary dyskinesia, primary, 35" }, { - "baseId": "248617|248618|248619|248620|248621|248622", + "upstreamId": "248617|248618|248619|248620|248621|248622", "text": "Senior-Loken syndrome 9" }, { - "baseId": "248662", + "upstreamId": "248662", "text": "Macular dystrophy, patterned, 3" }, { - "baseId": "248690|248691", + "upstreamId": "248690|248691", "text": "Myopathy, myofibrillar, 7" }, { - "baseId": "248706|248707|248708|612334|982222", + "upstreamId": "248706|248707|248708|612334|982222", "text": "Vascular malformation, primary intraosseous" }, { - "baseId": "248713|248714|248715", + "upstreamId": "248713|248714|248715", "text": "Peeling skin syndrome 5" }, { - "baseId": "248723|411366|550378", + "upstreamId": "248723|411366|550378", "text": "CASK-Related Disorder" }, { - "baseId": "248784|248785|248786|538630", + "upstreamId": "248784|248785|248786|538630", "text": "Band heterotopia" }, { - "baseId": "248794|248795|248796|248797|409196|529066|550368|568640|802005|858354|920341|961321|961641|964419|971009|971010|972728", + "upstreamId": "248794|248795|248796|248797|409196|529066|550368|568640|802005|858354|920341|961321|961641|964419|971009|971010|972728", "text": "Epileptic encephalopathy, early infantile, 43" }, { - "baseId": "248798|248799|432363|432364|919358|919359|967273", + "upstreamId": "248798|248799|432363|432364|919358|919359|967273", "text": "Epileptic encephalopathy, early infantile, 41" }, { - "baseId": "248809|425254|672077|826217|857359", + "upstreamId": "248809|425254|672077|826217|857359", "text": "Bardet-Biedl syndrome 20" }, { - "baseId": "248811|248812|903599", + "upstreamId": "248811|248812|903599", "text": "Mental retardation, autosomal recessive 56" }, { - "baseId": "248897|248898|248899|248900|248901|438868|464867|465037|465464|465473|465587|465595|465659|465694|465700|466147|466174|466194|466850|466951|466992|467019|467022|467033|467059|467314|495812|529278|529462|529545|529577|529764|529831|529833|530038|530040|530363|530380|530469|530481|530495|530698|530763|530793|530799|530819|530881|530919|530948|530950|530980|530991|567594|567597|568516|569461|569537|569833|569970|570587|570595|570596|570600|570653|570719|570723|570737|570738|573682|573684|573689|573712|574225|574242|625816|643758|643759|643805|643806|643822|643823|643824|643901|643902|643903|643906|643907|645083|645115|645120|645160|645188|645222|645223|645242|645243|645256|652451|652452|652914|652917|653216|703445|715209|726954|739930|740412|740538|744904|745023|754831|754846|778367|785086|791521|805857|820764|820889|820890|820916|820969|820970|820971|820972|820973|842946|842971|842972|842973|842974|842975|842976|842977|842983|842984|842985|842986|842987|842988|843068|843069|843088|843089|843090|843091|844438|844439|844440|844441|844473|844507|844530|844531|844580|844582|844596|844604|844605|844606|844639|844640|844641|844642|844643|844644|844645|844659|851645|851687|852085|852147|852612|852788|919682|927515|927516|927517|927556|927557|928003|928016|937177|937178|937213|937680|937686|937687|937696|937697|937705|937706|949121|949131|949135|949649|949672|949673|949674|949683|957592|957593|957612|957623|964441|964683|964684|967282|971060|971063", + "upstreamId": "248897|248898|248899|248900|248901|438868|464867|465037|465464|465473|465587|465595|465659|465694|465700|466147|466174|466194|466850|466951|466992|467019|467022|467033|467059|467314|495812|529278|529462|529545|529577|529764|529831|529833|530038|530040|530363|530380|530469|530481|530495|530698|530763|530793|530799|530819|530881|530919|530948|530950|530980|530991|567594|567597|568516|569461|569537|569833|569970|570587|570595|570596|570600|570653|570719|570723|570737|570738|573682|573684|573689|573712|574225|574242|625816|643758|643759|643805|643806|643822|643823|643824|643901|643902|643903|643906|643907|645083|645115|645120|645160|645188|645222|645223|645242|645243|645256|652451|652452|652914|652917|653216|703445|715209|726954|739930|740412|740538|744904|745023|754831|754846|778367|785086|791521|805857|820764|820889|820890|820916|820969|820970|820971|820972|820973|842946|842971|842972|842973|842974|842975|842976|842977|842983|842984|842985|842986|842987|842988|843068|843069|843088|843089|843090|843091|844438|844439|844440|844441|844473|844507|844530|844531|844580|844582|844596|844604|844605|844606|844639|844640|844641|844642|844643|844644|844645|844659|851645|851687|852085|852147|852612|852788|919682|927515|927516|927517|927556|927557|928003|928016|937177|937178|937213|937680|937686|937687|937696|937697|937705|937706|949121|949131|949135|949649|949672|949673|949674|949683|957592|957593|957612|957623|964441|964683|964684|967282|971060|971063", "text": "Epilepsy, familial focal, with variable foci 3" }, { - "baseId": "248902|248903|248904|248905|407707|538977|613611|679824|788835|788836|918846|974483|980936", + "upstreamId": "248902|248903|248904|248905|407707|538977|613611|679824|788835|788836|918846|974483|980936", "text": "Epilepsy, familial focal, with variable foci 2" }, { - "baseId": "249126", + "upstreamId": "249126", "text": "Familial breast and ovarian cancer" }, { - "baseId": "249186|249187|249188|249190|417069", + "upstreamId": "249186|249187|249188|249190|417069", "text": "Noonan syndrome-like disorder with loose anagen hair 2" }, { - "baseId": "249205|249206|816532|964598", + "upstreamId": "249205|249206|816532|964598", "text": "Mental retardation, X-linked 103" }, { - "baseId": "249209|249210", + "upstreamId": "249209|249210", "text": "Orofaciodigital syndrome XV" }, { - "baseId": "249216|550890", + "upstreamId": "249216|550890", "text": "Immunodeficiency 49" }, { - "baseId": "249258|249259|590541|590542|789138|903649|919973|964568|971176", + "upstreamId": "249258|249259|590541|590542|789138|903649|919973|964568|971176", "text": "Mental retardation, X-linked 104" }, { - "baseId": "249260|249261|920037", + "upstreamId": "249260|249261|920037", "text": "Mental retardation, X-linked 105" }, { - "baseId": "249426|535240|535242|535244|535245|535246|535252|535253|535254|535261|535267|535268", + "upstreamId": "249426|535240|535242|535244|535245|535246|535252|535253|535254|535261|535267|535268", "text": "Congenital hemolytic anemia" }, { - "baseId": "249498|249500|249502|249503|249504|249505|249506|249507|249508|249510|249511|249512|249513|249514|249515|249516|249517|249518|249520|249521|249522|249523|249524|249525|249526|277166|277168|277179|277180|277191|277192|277194|277195|277214|277219|277220|277221|277222|277225|277248|277249|277250|277252|277253|277254|277257|277260|277262|277263|277270|277272|277273|277294|277416|277422|277423|277427|277428|277435|277443|277444|277452|277454|277458|277459|277466|277467|277468|277471|277472|277474|277480|277482|277486|277489|277492|277494|277498|277504|277505|278219|278222|278240|278256|278260|278261|278262|278263|278264|278267|278268|278269|278270|278271|278278|278280|278281|278288|278289|278291|278295|278297|278298|278305|278307|278309|278310|278312|278316|278317|278318|278325|278328|278329|278330|278332|278334|278336|278338|278340|278341|278342|278343|278350|278351|278352|278360|278364|278373|278374|278383|313035|313037|313079|318938|318970|318974|319574|319585|557032|558220|558220|615287|706851|718365|718370|745824|777016|862698|862699|862700|862701|862702|862703|862704|862705|862706|862707|862708|862709|862710|862711|862712|862713|862714|862715|862716|862717|862718|862719|862720|862721|862722|862723|862724|862725|862726|862727|862728|862729|862730|862731|862732|862733|862734|862735|862736|862737|862738|862739|862740|862741|862742|862743|862744|862745|862746|862747|862748|862749|862750|862751|862752|862753|865026|865027|865028", + "upstreamId": "249498|249500|249502|249503|249504|249505|249506|249507|249508|249510|249511|249512|249513|249514|249515|249516|249517|249518|249520|249521|249522|249523|249524|249525|249526|277166|277168|277179|277180|277191|277192|277194|277195|277214|277219|277220|277221|277222|277225|277248|277249|277250|277252|277253|277254|277257|277260|277262|277263|277270|277272|277273|277294|277416|277422|277423|277427|277428|277435|277443|277444|277452|277454|277458|277459|277466|277467|277468|277471|277472|277474|277480|277482|277486|277489|277492|277494|277498|277504|277505|278219|278222|278240|278256|278260|278261|278262|278263|278264|278267|278268|278269|278270|278271|278278|278280|278281|278288|278289|278291|278295|278297|278298|278305|278307|278309|278310|278312|278316|278317|278318|278325|278328|278329|278330|278332|278334|278336|278338|278340|278341|278342|278343|278350|278351|278352|278360|278364|278373|278374|278383|313035|313037|313079|318938|318970|318974|319574|319585|557032|558220|558220|615287|706851|718365|718370|745824|777016|862698|862699|862700|862701|862702|862703|862704|862705|862706|862707|862708|862709|862710|862711|862712|862713|862714|862715|862716|862717|862718|862719|862720|862721|862722|862723|862724|862725|862726|862727|862728|862729|862730|862731|862732|862733|862734|862735|862736|862737|862738|862739|862740|862741|862742|862743|862744|862745|862746|862747|862748|862749|862750|862751|862752|862753|865026|865027|865028", "text": "Budd-Chiari syndrome" }, { - "baseId": "249812|249813|249814|249816|266292|279711|279718|279719|279721|279724|279731|279733|279734|279736|280000|280002|280004|280007|280021|280030|280048|280049|280051|280061|280062|280064|281321|281323|281327|281330|281331|281333|281339|281345|281348|281355|281519|281523|281524|281532|281534|281538|281540|281543|281545", + "upstreamId": "249812|249813|249814|249816|266292|279711|279718|279719|279721|279724|279731|279733|279734|279736|280000|280002|280004|280007|280021|280030|280048|280049|280051|280061|280062|280064|281321|281323|281327|281330|281331|281333|281339|281345|281348|281355|281519|281523|281524|281532|281534|281538|281540|281543|281545", "text": "Hypohidrotic Ectodermal Dysplasia, Recessive" }, { - "baseId": "250099|281712|282335|283733|283789|284026|284057|284058", + "upstreamId": "250099|281712|282335|283733|283789|284026|284057|284058", "text": "Acute Recurrent Myoglobinuria" }, { - "baseId": "250402|250667|282964|283798|285276|285284|285836|285922|285941|285949|288248|288264|288685|329042|339090|339125|345084|345085|345774|346414|346445", + "upstreamId": "250402|250667|282964|283798|285276|285284|285836|285922|285941|285949|288248|288264|288685|329042|339090|339125|345084|345085|345774|346414|346445", "text": "Congenital Myasthenic Syndrome, Dominant/Recessive" }, { - "baseId": "250588|360836|514140", + "upstreamId": "250588|360836|514140", "text": "Hyperkalemia" }, { - "baseId": "250588|360836|360995|361392|424227", + "upstreamId": "250588|360836|360995|361392|424227", "text": "Stage 5 chronic kidney disease" }, { - "baseId": "250889|289179|292183|292185|292312|493309|518854|518855|630875|630876|708516|708518|827448|827449|923026|931736|943297", + "upstreamId": "250889|289179|292183|292185|292312|493309|518854|518855|630875|630876|708516|708518|827448|827449|923026|931736|943297", "text": "Hereditary orotic aciduria, type 1" }, { - "baseId": "251071|293653|333868|333874|333881|333904|343813|343837|343840|343865|343874|343876|349091|349105|349121|349123|349125|349127|349135|349143|349165|350042|350077|350093|353496", + "upstreamId": "251071|293653|333868|333874|333881|333904|343813|343837|343840|343865|343874|343876|349091|349105|349121|349123|349125|349127|349135|349143|349165|350042|350077|350093|353496", "text": "Optic Atrophy, Dominant" }, { - "baseId": "251558|251559|263522|263523|263524|294065|294068|294075|295522|295523|295524|295526|295533|295534|295535|295539|295542|295543|295545|295546|299289|299290|299292|299293|299300|299307|299310|299321|299322|299323|299324|299325|299326|299327|299330|299331|299339|299340|299341|299347|299348|299350|299352|361021|497683|609037|620174|698618|698619|698620|721056|721057|721058|749048|858321|858322|858323|892105|892106|892107|892108|892109|892110|892111|892112|892113|892114|892115|892116|892117|892118|892119|892120|892121|892122|892123|892124|892125|892126|892127|892128|892129|892130|892131|892132|892133|892134|892135|892136|892137|892138|892139|892140|892141|892142|892143|892144|892145|892146|892147|892148|892149|892150|892151|892152|895991", + "upstreamId": "251558|251559|263522|263523|263524|294065|294068|294075|295522|295523|295524|295526|295533|295534|295535|295539|295542|295543|295545|295546|299289|299290|299292|299293|299300|299307|299310|299321|299322|299323|299324|299325|299326|299327|299330|299331|299339|299340|299341|299347|299348|299350|299352|361021|497683|609037|620174|698618|698619|698620|721056|721057|721058|749048|858321|858322|858323|892105|892106|892107|892108|892109|892110|892111|892112|892113|892114|892115|892116|892117|892118|892119|892120|892121|892122|892123|892124|892125|892126|892127|892128|892129|892130|892131|892132|892133|892134|892135|892136|892137|892138|892139|892140|892141|892142|892143|892144|892145|892146|892147|892148|892149|892150|892151|892152|895991", "text": "Amelogenesis imperfecta" }, { - "baseId": "252058|290768|295268|298774|298775|301236|301242|301266|305609|305612|422029", + "upstreamId": "252058|290768|295268|298774|298775|301236|301242|301266|305609|305612|422029", "text": "Metaphyseal chondrodysplasia" }, { - "baseId": "252382|252383|252384|252385|252386|252387|252392|252394|300444|300454|300455|300459|300460|300461|300470|300473|300474|300485|300489|300493|300500|300503|300504|300505|300510|303302|303309|303310|303319|303329|303331|303361|303362|303364|303369|307787|307805|307812|307819|307820|307826|307827|307842|307843|307874|307880|307893|307894|307901|307902|307910|307913|307973|307977|307982|307991|307996|307998|307999|308001|308029|308034|308035|308038|308050|513063|620234|623290|735697|818249|896533|896534|896535|896536|896537|896538|896539|896540|896541|896542|896543|896544|896545|896546|896547|896548|896549|896550|896551|896552|896553|896554|896555|896556|896557|896558|896559|896560|900237|900238|900239|900240|919035", + "upstreamId": "252382|252383|252384|252385|252386|252387|252392|252394|300444|300454|300455|300459|300460|300461|300470|300473|300474|300485|300489|300493|300500|300503|300504|300505|300510|303302|303309|303310|303319|303329|303331|303361|303362|303364|303369|307787|307805|307812|307819|307820|307826|307827|307842|307843|307874|307880|307893|307894|307901|307902|307910|307913|307973|307977|307982|307991|307996|307998|307999|308001|308029|308034|308035|308038|308050|513063|620234|623290|735697|818249|896533|896534|896535|896536|896537|896538|896539|896540|896541|896542|896543|896544|896545|896546|896547|896548|896549|896550|896551|896552|896553|896554|896555|896556|896557|896558|896559|896560|900237|900238|900239|900240|919035", "text": "Focal segmental glomerulosclerosis 3, susceptibility to" }, { - "baseId": "252960|252961|252964|252965|252966|303552|303557|303560|303561|303562|303566|303568|303570|306979|306988|306989|306996|306998|307003|307005|307010|307011|307013|307014|311871|311876|311877|311882|311883|311886|311887|311888|311891|311895|311896|311899|311904|311907|311910|311912|311913|311914|311917|311920|311926|311929|311930|311931|311942|311946|311949|311950|311954|311955|458038|722719|744375|766441|898468|898469|898470|898471|898472|898473|898474|898475|898476|898477|898478|898479|898480|898481|898482|898483|898484|898485|898486|898487|898488|898489|898490|898491|898492|898493|898494|898495|898496|900410|900411|900412", + "upstreamId": "252960|252961|252964|252965|252966|303552|303557|303560|303561|303562|303566|303568|303570|306979|306988|306989|306996|306998|307003|307005|307010|307011|307013|307014|311871|311876|311877|311882|311883|311886|311887|311888|311891|311895|311896|311899|311904|311907|311910|311912|311913|311914|311917|311920|311926|311929|311930|311931|311942|311946|311949|311950|311954|311955|458038|722719|744375|766441|898468|898469|898470|898471|898472|898473|898474|898475|898476|898477|898478|898479|898480|898481|898482|898483|898484|898485|898486|898487|898488|898489|898490|898491|898492|898493|898494|898495|898496|900410|900411|900412", "text": "Angiokeratoma corporis diffusum with arteriovenous fistulas" }, { - "baseId": "254136|274286|313856|313857|313862|313863|313867|313870|313872|313873|313874|313877|313886|313888|313889|320061|320062|320069|320071|320080|320084|320087|320088|320089|320100|320111|320112|320114|320134|320135|320138|320142|320143|320145|320146|320147|320163|320165|320166|320167|320174|320197|320198|320199|326222|326244|326245|326246|326248|326251|326252|326256|326257|326258|326270|326272|326273|326276|326277|327197|327203|327204|327206|327207|327214|327217|327218|327222|327223|327241|327242|327259|327263|327272|327273|327276|327282|327283", + "upstreamId": "254136|274286|313856|313857|313862|313863|313867|313870|313872|313873|313874|313877|313886|313888|313889|320061|320062|320069|320071|320080|320084|320087|320088|320089|320100|320111|320112|320114|320134|320135|320138|320142|320143|320145|320146|320147|320163|320165|320166|320167|320174|320197|320198|320199|326222|326244|326245|326246|326248|326251|326252|326256|326257|326258|326270|326272|326273|326276|326277|327197|327203|327204|327206|327207|327214|327217|327218|327222|327223|327241|327242|327259|327263|327272|327273|327276|327282|327283", "text": "Aniridia, Cerebellar Ataxia, And Intellectual Disability" }, { - "baseId": "254388|315724|315727|322754|322757|328843|330053|330071|330082", + "upstreamId": "254388|315724|315727|322754|322757|328843|330053|330071|330082", "text": "Mucolipidosis, Type III Alpha/Beta" }, { - "baseId": "254945|320553|320594|329361|337894|399643|400207|400211|445230|464041|464044|566413", + "upstreamId": "254945|320553|320594|329361|337894|399643|400207|400211|445230|464041|464044|566413", "text": "Premature ovarian failure 15" }, { - "baseId": "255299|255300|255301|255302|255303|255304|312054|312057|317720|322878|322883|322884|322886|322889|322895|322898|322902|322904|322909|322910|322915|322917|322920|322921|322924|322928|322932|322936|322937|322938|322942|323745|324453|332378|332391|332412|332420|332421|332426|332427|332429|332446|332447|332461|332464|332468|332471|332480|332485|332487|332515|332525|339375|339377|339378|339381|339383|339384|339396|339405|339419|339439|339443|339453|339460|339476|339479|340813|340831|340834|340836|340840|340841|340846|340857|340866|340876|340888|340892|340898", + "upstreamId": "255299|255300|255301|255302|255303|255304|312054|312057|317720|322878|322883|322884|322886|322889|322895|322898|322902|322904|322909|322910|322915|322917|322920|322921|322924|322928|322932|322936|322937|322938|322942|323745|324453|332378|332391|332412|332420|332421|332426|332427|332429|332446|332447|332461|332464|332468|332471|332480|332485|332487|332515|332525|339375|339377|339378|339381|339383|339384|339396|339405|339419|339439|339443|339453|339460|339476|339479|340813|340831|340834|340836|340840|340841|340846|340857|340866|340876|340888|340892|340898", "text": "Amelogenesis Imperfecta, Recessive" }, { - "baseId": "255412|265437|340066|348872|353333", + "upstreamId": "255412|265437|340066|348872|353333", "text": "Jarcho-Levin syndrome" }, { - "baseId": "255439", + "upstreamId": "255439", "text": "Arthrogryposis with renal dysfunction and cholestasis syndrome" }, { - "baseId": "255586|514055", + "upstreamId": "255586|514055", "text": "Hyperechogenic kidneys" }, { - "baseId": "255755|325092|325093|325427|325468|325469|334748|334755|334758|334760|335073|335105|335114|335115|339526|339530|341231|341233|341234|341235|341560|341563|342742|342743|342753|343056|343057|343061|352425|352943|434692", + "upstreamId": "255755|325092|325093|325427|325468|325469|334748|334755|334758|334760|335073|335105|335114|335115|339526|339530|341231|341233|341234|341235|341560|341563|342742|342743|342753|343056|343057|343061|352425|352943|434692", "text": "Glycogen phosphorylase kinase deficiency" }, { - "baseId": "256261|794298|794299|794300|794301|794302|794303|794304|794305|794306|794307|794308|794309|794310|794311|794312|794313|794314|794315", + "upstreamId": "256261|794298|794299|794300|794301|794302|794303|794304|794305|794306|794307|794308|794309|794310|794311|794312|794313|794314|794315", "text": "CIC-DUX Sarcoma" }, { - "baseId": "256424|257265|257269|257273|257281|257286|299244|299251|299270|299272|299276|301661|301676|301684|301685|301701|306124|306137|306152|306156|306330|306356|306359|306370|306380|315854|334731|344553|345990|349580|350588|353744|389650|460250|654600|790976|963276", + "upstreamId": "256424|257265|257269|257273|257281|257286|299244|299251|299270|299272|299276|301661|301676|301684|301685|301701|306124|306137|306152|306156|306330|306356|306359|306370|306380|315854|334731|344553|345990|349580|350588|353744|389650|460250|654600|790976|963276", "text": "Familial hemophagocytic lymphohistiocytosis" }, { - "baseId": "256566|260583|260584|260585|260586|262271|361807|361808|361809|430044|434540|438065|439065|482162|482163|513651|538472|538473|539077|620934|626319|788920|788921|791848|791849|903628|919786|919787|920387|920388|977285|977286|977287", + "upstreamId": "256566|260583|260584|260585|260586|262271|361807|361808|361809|430044|434540|438065|439065|482162|482163|513651|538472|538473|539077|620934|626319|788920|788921|791848|791849|903628|919786|919787|920387|920388|977285|977286|977287", "text": "Arthrogryposis, distal, with impaired proprioception and touch" }, { - "baseId": "257203", + "upstreamId": "257203", "text": "FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO" }, { - "baseId": "257379|335926|335929|335932|335935|335939|335940|335941|335943|335948|335951|335960|335961|335967|335968|335980|335983|335987|335988|335992|336001|345625|345637|345656|345658|345660|345665|345671|345673|345678|345680|345692|345693|345695|345698|345699|345704|345705|345707|345712|345714|345716|345718|345724|345731|345732|345734|345742|345749|350177|350180|350182|350184|350186|350187|350190|350193|350194|350197|350200|350204|350207|350208|350210|350211|350212|350214|350215|350221|350223|350224|350228|350229|350231|351244|351246|351249|351250|351256|351259|351262|351263|351266|351267|351270|351272|351275|351276|351278|351281|351283|442305|470472|471454|471456|514902|533643|886346|886347|886348|886349|886350|886351|886352|886353|886354|886355|886356|886357|886358|886359|886360|886361|886362|886363|886364|886365|886366|886367|886368|886369|886370|886371|886372|886373|886374|886375|886376|886377|886378|886379|886380|886381|886382|886383|886384|886385|886386|886387|886388|886389|886390|886391|886392|886393|886394|886395|886396|886397|886398|886399|886400|886401|887477|887478", + "upstreamId": "257379|335926|335929|335932|335935|335939|335940|335941|335943|335948|335951|335960|335961|335967|335968|335980|335983|335987|335988|335992|336001|345625|345637|345656|345658|345660|345665|345671|345673|345678|345680|345692|345693|345695|345698|345699|345704|345705|345707|345712|345714|345716|345718|345724|345731|345732|345734|345742|345749|350177|350180|350182|350184|350186|350187|350190|350193|350194|350197|350200|350204|350207|350208|350210|350211|350212|350214|350215|350221|350223|350224|350228|350229|350231|351244|351246|351249|351250|351256|351259|351262|351263|351266|351267|351270|351272|351275|351276|351278|351281|351283|442305|470472|471454|471456|514902|533643|886346|886347|886348|886349|886350|886351|886352|886353|886354|886355|886356|886357|886358|886359|886360|886361|886362|886363|886364|886365|886366|886367|886368|886369|886370|886371|886372|886373|886374|886375|886376|886377|886378|886379|886380|886381|886382|886383|886384|886385|886386|886387|886388|886389|886390|886391|886392|886393|886394|886395|886396|886397|886398|886399|886400|886401|887477|887478", "text": "Adult proximal spinal muscular atrophy, autosomal dominant" }, { - "baseId": "257577|257578|257579|347213|347216|352238|352273", + "upstreamId": "257577|257578|257579|347213|347216|352238|352273", "text": "Congenital nuclear cataract" }, { - "baseId": "257609|337921|337925|337929|347557|347569|347578|347582|351456|351477|352476|352477|352486|353605", + "upstreamId": "257609|337921|337925|337929|347557|347569|347578|347582|351456|351477|352476|352477|352486|353605", "text": "Fundus dystrophy, pseudoinflammatory, recessive form" }, { - "baseId": "257715|622486", + "upstreamId": "257715|622486", "text": "Congenital Muscular Dystrophy, CHKB-related" }, { - "baseId": "257852|286718|287430|289863|353573", + "upstreamId": "257852|286718|287430|289863|353573", "text": "Ovarian dysgenesis" }, { - "baseId": "258009", + "upstreamId": "258009", "text": "TTN-Related disorder" }, { - "baseId": "259117|377393", + "upstreamId": "259117|377393", "text": "Glucocorticoid deficiency 5" }, { - "baseId": "259230|497729", + "upstreamId": "259230|497729", "text": "Multiple congenital anomalies-hypotonia-seizures syndrome" }, { - "baseId": "259237", + "upstreamId": "259237", "text": "VATER/VACTERL association with CNS malformations" }, { - "baseId": "259239|259240|259241|354282|918814", + "upstreamId": "259239|259240|259241|354282|918814", "text": "Epidermolysis bullosa simplex, generalized, with scarring and hair loss" }, { - "baseId": "259290|259291|259292|259293|789368|977224", + "upstreamId": "259290|259291|259292|259293|789368|977224", "text": "Frontometaphyseal dysplasia 2" }, { - "baseId": "259294|259295|259296|259297|672323|677291|917767|963206|980841", + "upstreamId": "259294|259295|259296|259297|672323|677291|917767|963206|980841", "text": "Cardiospondylocarpofacial syndrome" }, { - "baseId": "259325", + "upstreamId": "259325", "text": "Aniridia 3" }, { - "baseId": "259405|267315|268160|270798|373810|445468|513354|578521", + "upstreamId": "259405|267315|268160|270798|373810|445468|513354|578521", "text": "Macrocephaly with multiple epiphyseal dysplasia and distinctive facies" }, { - "baseId": "259624|364478|364483|389107|389108|416152|416153|583075|623226|623227|801571|802117|921033|966154", + "upstreamId": "259624|364478|364483|389107|389108|416152|416153|583075|623226|623227|801571|802117|921033|966154", "text": "Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies" }, { - "baseId": "259696|514048|514112|514124|620168", + "upstreamId": "259696|514048|514112|514124|620168", "text": "Low-set ears" }, { - "baseId": "259696", + "upstreamId": "259696", "text": "Abnormality of the neck" }, { - "baseId": "259696", + "upstreamId": "259696", "text": "Dysphagia" }, { - "baseId": "259742|359062|359063|481555|578403|578404|788756|790288|920466|920467", + "upstreamId": "259742|359062|359063|481555|578403|578404|788756|790288|920466|920467", "text": "Spastic tetraplegia, thin corpus callosum, and progressive microcephaly" }, { - "baseId": "259744", + "upstreamId": "259744", "text": "DYSF- Related Disorder" }, { - "baseId": "259765", + "upstreamId": "259765", "text": "Abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity" }, { - "baseId": "259807|264639", + "upstreamId": "259807|264639", "text": "neonatal seizures" }, { - "baseId": "259861|259864|428715|963326|963327|963328|963329|963330|963331|970522|970523", + "upstreamId": "259861|259864|428715|963326|963327|963328|963329|963330|963331|970522|970523", "text": "Hamartoma of hypothalamus" }, { - "baseId": "259934|536049|536050|964841", + "upstreamId": "259934|536049|536050|964841", "text": "Heterotaxy, visceral, 7, autosomal" }, { - "baseId": "260018|411544|411545|411546|411547|411548|411549|625867|917582|917583", + "upstreamId": "260018|411544|411545|411546|411547|411548|411549|625867|917582|917583", "text": "Spondylometaphyseal dysplasia - Sutcliffe type" }, { - "baseId": "260122|432443|432444|432445|967132|967134", + "upstreamId": "260122|432443|432444|432445|967132|967134", "text": "Blepharocheilodontic syndrome 1" }, { - "baseId": "260246", + "upstreamId": "260246", "text": "Hip flexor weakness" }, { - "baseId": "260246", + "upstreamId": "260246", "text": "Falls" }, { - "baseId": "260246|360912|360933|360934|360970|360971|514007|514152|794110", + "upstreamId": "260246|360912|360933|360934|360970|360971|514007|514152|794110", "text": "Difficulty walking" }, { - "baseId": "260246", + "upstreamId": "260246", "text": "Qualitative or quantitative defects of collagen 6" }, { - "baseId": "260246|271059|970382", + "upstreamId": "260246|271059|970382", "text": "Bethlem myopathy" }, { - "baseId": "260290|446548|623169|623180|963309|984012", + "upstreamId": "260290|446548|623169|623180|963309|984012", "text": "L1 syndrome" }, { - "baseId": "260377|260377|260378|260379|260380|260381|260381|260382|260383|260384|260385|260386|260387|481498|481675|513414|795332|961598|970755", + "upstreamId": "260377|260377|260378|260379|260380|260381|260381|260382|260383|260384|260385|260386|260387|481498|481675|513414|795332|961598|970755", "text": "Epileptic encephalopathy, early infantile, 44" }, { - "baseId": "260377|260381|260388|260389", + "upstreamId": "260377|260381|260388|260389", "text": "Spinocerebellar ataxia, autosomal recessive 24" }, { - "baseId": "260407|260407|260408|260408|260409|260410|260411|433926|442901|448453|448461|448524|448576|448587|448594|448660|448665|516236|516237|516239|516244|516249|516250|516252|516255|516256|516262|516268|516343|516348|516354|516356|540442|557416|557456|557458|557460|557462|557464|557466|557468|557470|557519|557521|557523|557525|558667|558669|558671|558673|558675|558677|558679|559170|559172|609441|650390|650391|650394|650395|650396|650397|650398|650400|650401|650402|650403|690688|690690|690691|690692|690693|690694|690695|690696|690697|690698|695065|695066|695067|719178|719179|732694|762136|778868|780802|819023|819024|819025|824615|824616|824617|824618|824619|824620|824621|824622|824623|824624|824625|824626|824627|824628|824629|922205|922206|922207|922208|922209|922210|930746|930747|930748|942177|942178|952600|952601|952602|952603", + "upstreamId": "260407|260407|260408|260408|260409|260410|260411|433926|442901|448453|448461|448524|448576|448587|448594|448660|448665|516236|516237|516239|516244|516249|516250|516252|516255|516256|516262|516268|516343|516348|516354|516356|540442|557416|557456|557458|557460|557462|557464|557466|557468|557470|557519|557521|557523|557525|558667|558669|558671|558673|558675|558677|558679|559170|559172|609441|650390|650391|650394|650395|650396|650397|650398|650400|650401|650402|650403|690688|690690|690691|690692|690693|690694|690695|690696|690697|690698|695065|695066|695067|719178|719179|732694|762136|778868|780802|819023|819024|819025|824615|824616|824617|824618|824619|824620|824621|824622|824623|824624|824625|824626|824627|824628|824629|922205|922206|922207|922208|922209|922210|930746|930747|930748|942177|942178|952600|952601|952602|952603", "text": "Myasthenic syndrome, congenital, 20, presynaptic" }, { - "baseId": "260444|260445|260945|262040|970866", + "upstreamId": "260444|260445|260945|262040|970866", "text": "Epileptic encephalopathy, early infantile, 51" }, { - "baseId": "260470|260471|260472|918950|964253|972717", + "upstreamId": "260470|260471|260472|918950|964253|972717", "text": "Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset" }, { - "baseId": "260473|260474|260475|260476|260477|260478|513471|513472|797629|860452|917584|917585|917586|917587|917588|917589|917590|917591|917592|917593|917594|917595|917596|917597|917598|917599|917600|917601|917602|917603|917604|917605|917606|917607|917608|917609|917610|917611|917612|917613|917614|917615|917616|917617|917618|917619|917620|961542|963084", + "upstreamId": "260473|260474|260475|260476|260477|260478|513471|513472|797629|860452|917584|917585|917586|917587|917588|917589|917590|917591|917592|917593|917594|917595|917596|917597|917598|917599|917600|917601|917602|917603|917604|917605|917606|917607|917608|917609|917610|917611|917612|917613|917614|917615|917616|917617|917618|917619|917620|961542|963084", "text": "Leukoencephalopathy, brain calcifications, and cysts" }, { - "baseId": "260479|260480|262084|262085|481369|792655", + "upstreamId": "260479|260480|262084|262085|481369|792655", "text": "MEHMO syndrome" }, { - "baseId": "260501|260502|260503|260504", + "upstreamId": "260501|260502|260503|260504", "text": "Meester-loeys syndrome" }, { - "baseId": "260515", + "upstreamId": "260515", "text": "Left ventricular noncompaction 2" }, { - "baseId": "260547|260548|260549", + "upstreamId": "260547|260548|260549", "text": "GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY" }, { - "baseId": "260579|260580|424600|626145|970793|972757", + "upstreamId": "260579|260580|424600|626145|970793|972757", "text": "Epileptic encephalopathy, early infantile, 45" }, { - "baseId": "260789", + "upstreamId": "260789", "text": "Ulnar/fibular ray defect and brachydactyly" }, { - "baseId": "260843|260844|260845|260846|260847|415885|513171|513207|514064|576175|626247|903613|919672|920502|920523", + "upstreamId": "260843|260844|260845|260846|260847|415885|513171|513207|514064|576175|626247|903613|919672|920502|920523", "text": "Short stature, brachydactyly, intellectual developmental disability, and seizures" }, { - "baseId": "260857|513415", + "upstreamId": "260857|513415", "text": "Epileptic encephalopathy, early infantile, 47" }, { - "baseId": "260858|260859|556462|556463|556464|556465|556468|556469|965881|971054", + "upstreamId": "260858|260859|556462|556463|556464|556465|556468|556469|965881|971054", "text": "Severe combined immunodeficiency due to CARMIL2 deficiency" }, { - "baseId": "260878|590054", + "upstreamId": "260878|590054", "text": "Lymphopenia" }, { - "baseId": "260878|360925|465930|465938|466617|466620|466656|466663|466957|485948|530172|530174|530176|530179|530243|530245|530251|530496|530502|530505|530507|530714|530719|534266|568273|570384|570388|570389|570390|570391|570447|570449|574133|590038|590054|644893|644894|644895|644896|644897|644898|644899|644900|644901|644902|644903|644904|644905|644906|644907|644908|644909|644910|644911|644912|644913|644914|644915|644916|644917|644918|644919|652755|653059|715032|716121|726762|726763|726764|740321|740322|740323|740325|755346|755347|760465|771035|771036|789347|805105|805110|815926|815927|844194|844195|844196|844197|844198|844199|844200|844201|844202|844203|844204|844205|844206|844207|844208|844209|844210|844211|844212|844213|844214|852125|904621|927909|927910|927911|927912|927913|927914|937569|937570|937571|937572|949518|949519|949520|949521|949522|957852|977163|977164|977313|977314|977316|983747|983858", + "upstreamId": "260878|360925|465930|465938|466617|466620|466656|466663|466957|485948|530172|530174|530176|530179|530243|530245|530251|530496|530502|530505|530507|530714|530719|534266|568273|570384|570388|570389|570390|570391|570447|570449|574133|590038|590054|644893|644894|644895|644896|644897|644898|644899|644900|644901|644902|644903|644904|644905|644906|644907|644908|644909|644910|644911|644912|644913|644914|644915|644916|644917|644918|644919|652755|653059|715032|716121|726762|726763|726764|740321|740322|740323|740325|755346|755347|760465|771035|771036|789347|805105|805110|815926|815927|844194|844195|844196|844197|844198|844199|844200|844201|844202|844203|844204|844205|844206|844207|844208|844209|844210|844211|844212|844213|844214|852125|904621|927909|927910|927911|927912|927913|927914|937569|937570|937571|937572|949518|949519|949520|949521|949522|957852|977163|977164|977313|977314|977316|983747|983858", "text": "Immunodeficiency" }, { - "baseId": "260878|590054", + "upstreamId": "260878|590054", "text": "Cor triatriatum dexter" }, { - "baseId": "260896|260921|260929", + "upstreamId": "260896|260921|260929", "text": "Orofacial-digital syndrome III" }, { - "baseId": "260904", + "upstreamId": "260904", "text": "Retinal vascular dystrophy" }, { - "baseId": "260978|260979|260980|260981|260982|260983|404809|611418|791272|816525|919465|919466|963767|964854|965924|971567|972726|972729", + "upstreamId": "260978|260979|260980|260981|260982|260983|404809|611418|791272|816525|919465|919466|963767|964854|965924|971567|972726|972729", "text": "Sifrim-Hitz-Weiss syndrome" }, { - "baseId": "262087|262088|262089|626202|794216|965983|965984", + "upstreamId": "262087|262088|262089|626202|794216|965983|965984", "text": "Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay" }, { - "baseId": "262090|590724|590725|590726|677309|791943|802030|903637|963185", + "upstreamId": "262090|590724|590725|590726|677309|791943|802030|903637|963185", "text": "Epileptic encephalopathy, early infantile, 46" }, { - "baseId": "262198|486206", + "upstreamId": "262198|486206", "text": "Sotos syndrome 3" }, { - "baseId": "262230", + "upstreamId": "262230", "text": "3q29 microdeletion syndrome" }, { - "baseId": "262271|578558", + "upstreamId": "262271|578558", "text": "autosomal recessive PIEZO2 associated disease" }, { - "baseId": "262352", + "upstreamId": "262352", "text": "Infant onset multiple organ failure" }, { - "baseId": "262483|262484|262519|262520|262521|262522|262523|262524|359036|359037|362387|362388|362389|362390|362391|362392|614383|614384|964399|964399|980471", + "upstreamId": "262483|262484|262519|262520|262521|262522|262523|262524|359036|359037|362387|362388|362389|362390|362391|362392|614383|614384|964399|964399|980471", "text": "Ehlers-Danlos syndrome, periodontal type, 2" }, { - "baseId": "262483|262484|262519|262520|262521|262522|262523|262524|359036|359037|362387|362388|362389|362390|362391|362392|614385|919468|961869|980472", + "upstreamId": "262483|262484|262519|262520|262521|262522|262523|262524|359036|359037|362387|362388|362389|362390|362391|362392|614385|919468|961869|980472", "text": "Ehlers-Danlos syndrome, type 8" }, { - "baseId": "262636", + "upstreamId": "262636", "text": "Juvenile onset psychosis" }, { - "baseId": "262748|262749|262750|262751|262752|262753|262754|262755|262756|262757|262758|262759", + "upstreamId": "262748|262749|262750|262751|262752|262753|262754|262755|262756|262757|262758|262759", "text": "16q24.3 microdeletion syndrome" }, { - "baseId": "263171|263172", + "upstreamId": "263171|263172", "text": "Lung damage, immunodeficiency and chromosome breakage syndrome" }, { - "baseId": "263171|263172", + "upstreamId": "263171|263172", "text": "Lung disease, immunodeficiency, and chromosome breakage syndrome" }, { - "baseId": "263176", + "upstreamId": "263176", "text": "Azoospermia" }, { - "baseId": "263176|263219|514147|963104", + "upstreamId": "263176|263219|514147|963104", "text": "Oral cleft" }, { - "baseId": "263176", + "upstreamId": "263176", "text": "Testicular atrophy" }, { - "baseId": "263181|362641|362644|802081", + "upstreamId": "263181|362641|362644|802081", "text": "Anosmia" }, { - "baseId": "263185", + "upstreamId": "263185", "text": "Incomplete partition of the cochlea type II" }, { - "baseId": "263185|513985|514023", + "upstreamId": "263185|513985|514023", "text": "Telangiectasia of the skin" }, { - "baseId": "263185", + "upstreamId": "263185", "text": "Juvenile rheumatoid arthritis" }, { - "baseId": "263187|354294", + "upstreamId": "263187|354294", "text": "Reduced visual acuity" }, { - "baseId": "263192", + "upstreamId": "263192", "text": "Partial duplication of thumb phalanx" }, { - "baseId": "263192|514005|514175", + "upstreamId": "263192|514005|514175", "text": "Clinodactyly" }, { - "baseId": "263197|263232|263315|263419|513890|513904", + "upstreamId": "263197|263232|263315|263419|513890|513904", "text": "17 conditions" }, { - "baseId": "263198", + "upstreamId": "263198", "text": "Widened subarachnoid space" }, { - "baseId": "263198|263218|263231|263391|361043|514104|677275", + "upstreamId": "263198|263218|263231|263391|361043|514104|677275", "text": "Mild global developmental delay" }, { - "baseId": "263202", + "upstreamId": "263202", "text": "Neurological speech impairment" }, { - "baseId": "263202", + "upstreamId": "263202", "text": "Obsessive-compulsive trait" }, { - "baseId": "263206|263215", + "upstreamId": "263206|263215", "text": "21 conditions" }, { - "baseId": "263218", + "upstreamId": "263218", "text": "Impaired visuospatial constructive cognition" }, { - "baseId": "263219", + "upstreamId": "263219", "text": "Nasolacrimal duct obstruction" }, { - "baseId": "263219", + "upstreamId": "263219", "text": "Feeding difficulties in infancy" }, { - "baseId": "263224", + "upstreamId": "263224", "text": "Spina bifida occulta" }, { - "baseId": "263224|360978", + "upstreamId": "263224|360978", "text": "Inguinal hernia" }, { - "baseId": "263234|414000|432334|485950|622520", + "upstreamId": "263234|414000|432334|485950|622520", "text": "Recurrent fractures" }, { - "baseId": "263238|263300", + "upstreamId": "263238|263300", "text": "25 conditions" }, { - "baseId": "263239|918956", + "upstreamId": "263239|918956", "text": "Plagiocephaly" }, { - "baseId": "263242", + "upstreamId": "263242", "text": "Macular hypopigmented whorls, streaks, and patches" }, { - "baseId": "263242", + "upstreamId": "263242", "text": "Global brain atrophy" }, { - "baseId": "263244|626449|626450|965430|966614", + "upstreamId": "263244|626449|626450|965430|966614", "text": "Hypospadias, penile" }, { - "baseId": "263251", + "upstreamId": "263251", "text": "Sensory impairment" }, { - "baseId": "263252", + "upstreamId": "263252", "text": "Oral motor hypotonia" }, { - "baseId": "263255|360977|360978|514184|961915|961916|961917", + "upstreamId": "263255|360977|360978|514184|961915|961916|961917", "text": "Tall stature" }, { - "baseId": "263260", + "upstreamId": "263260", "text": "Tracheomalacia" }, { - "baseId": "263269|805144|818379|857360", + "upstreamId": "263269|805144|818379|857360", "text": "Oligospermia" }, { - "baseId": "263269|360850|858734", + "upstreamId": "263269|360850|858734", "text": "Overgrowth" }, { - "baseId": "263269", + "upstreamId": "263269", "text": "Pneumothorax" }, { - "baseId": "263269", + "upstreamId": "263269", "text": "Decreased testicular size" }, { - "baseId": "263270", + "upstreamId": "263270", "text": "Aplasia of the nose" }, { - "baseId": "263270", + "upstreamId": "263270", "text": "Short chin" }, { - "baseId": "263274", + "upstreamId": "263274", "text": "Dyscalculia" }, { - "baseId": "263274|263336|263782|263783|424588|424589|424590|424591|424592|424593|424594|424595|424596|424597|590061|679897", + "upstreamId": "263274|263336|263782|263783|424588|424589|424590|424591|424592|424593|424594|424595|424596|424597|590061|679897", "text": "Expressive language delay" }, { - "baseId": "263274|679483|794110|921237|921239|921240", + "upstreamId": "263274|679483|794110|921237|921239|921240", "text": "Aggressive behavior" }, { - "baseId": "263274", + "upstreamId": "263274", "text": "Poor fine motor coordination" }, { - "baseId": "263275|263283", + "upstreamId": "263275|263283", "text": "Autism with high cognitive abilities" }, { - "baseId": "263279", + "upstreamId": "263279", "text": "Cerebral white matter hypoplasia" }, { - "baseId": "263282", + "upstreamId": "263282", "text": "Self-injurious behavior" }, { - "baseId": "263284", + "upstreamId": "263284", "text": "Abnormality of calvarial morphology" }, { - "baseId": "263284", + "upstreamId": "263284", "text": "Bronchogenic cyst (disease)" }, { - "baseId": "263284", + "upstreamId": "263284", "text": "Abnormality of the ileum" }, { - "baseId": "263288|535230|626420", + "upstreamId": "263288|535230|626420", "text": "Partial agenesis of the corpus callosum" }, { - "baseId": "263289", + "upstreamId": "263289", "text": "Impaired social interactions" }, { - "baseId": "263289", + "upstreamId": "263289", "text": "Short attention span" }, { - "baseId": "263294", + "upstreamId": "263294", "text": "Hypercoagulability" }, { - "baseId": "263297", + "upstreamId": "263297", "text": "Severe short stature" }, { - "baseId": "263303", + "upstreamId": "263303", "text": "29 conditions" }, { - "baseId": "263304|360992|513954|514058|514085|514102|621026|621038|965293", + "upstreamId": "263304|360992|513954|514058|514085|514102|621026|621038|965293", "text": "Multicystic kidney dysplasia" }, { - "baseId": "263304", + "upstreamId": "263304", "text": "Single umbilical artery" }, { - "baseId": "263304", + "upstreamId": "263304", "text": "Cerebellar dysplasia" }, { - "baseId": "263305", + "upstreamId": "263305", "text": "Drooling" }, { - "baseId": "263306|489148|966698", + "upstreamId": "263306|489148|966698", "text": "Cystic hygroma" }, { - "baseId": "263310", + "upstreamId": "263310", "text": "Severe intrauterine growth retardation" }, { - "baseId": "263310", + "upstreamId": "263310", "text": "Pelvic kidney" }, { - "baseId": "263310", + "upstreamId": "263310", "text": "Abnormal renal morphology" }, { - "baseId": "263314", + "upstreamId": "263314", "text": "Depressed nasal ridge" }, { - "baseId": "263314", + "upstreamId": "263314", "text": "Wide nose" }, { - "baseId": "263317|263411|590094", + "upstreamId": "263317|263411|590094", "text": "23 conditions" }, { - "baseId": "263320|538608|538609", + "upstreamId": "263320|538608|538609", "text": "Bladder exstrophy" }, { - "baseId": "263322|404850", + "upstreamId": "263322|404850", "text": "Microtia" }, { - "baseId": "263328", + "upstreamId": "263328", "text": "EEG with temporal focal spikes" }, { - "baseId": "263336", + "upstreamId": "263336", "text": "Abnormality of facial skeleton" }, { - "baseId": "263336", + "upstreamId": "263336", "text": "Abnormality of the skull" }, { - "baseId": "263337", + "upstreamId": "263337", "text": "Retrognathia" }, { - "baseId": "263337", + "upstreamId": "263337", "text": "Abnormality of the mandible" }, { - "baseId": "263340|540053|540054|540055|540056|540057|540058|540059|540060|540061|540062|540063|540064|540065|540066|540067|540068|540069|540070|540071|540072|540073|540074|540075|540076|540077|540078|540079|540080|540081|540082|540083|540084|540085|540086|540087|540088|540089|540090|540091|540092|540093|540094|540095|540096|540097|540098|540099|540100|540101|540102|540103|540104|540105|540106|540107|540108|540109|540110|540111|540112|540113|540114|540115|540116|540117|540118|540119|540120|540121|540122|540123|540124|540125|540126|540127|540128|540129|540130|540131|540132|540133|540134|540135|540136|540137|540138|540139|540140", + "upstreamId": "263340|540053|540054|540055|540056|540057|540058|540059|540060|540061|540062|540063|540064|540065|540066|540067|540068|540069|540070|540071|540072|540073|540074|540075|540076|540077|540078|540079|540080|540081|540082|540083|540084|540085|540086|540087|540088|540089|540090|540091|540092|540093|540094|540095|540096|540097|540098|540099|540100|540101|540102|540103|540104|540105|540106|540107|540108|540109|540110|540111|540112|540113|540114|540115|540116|540117|540118|540119|540120|540121|540122|540123|540124|540125|540126|540127|540128|540129|540130|540131|540132|540133|540134|540135|540136|540137|540138|540139|540140", "text": "Primary amenorrhea" }, { - "baseId": "263341|514143", + "upstreamId": "263341|514143", "text": "Aplasia of the uterus" }, { - "baseId": "263343", + "upstreamId": "263343", "text": "Oligomenorrhea" }, { - "baseId": "263343", + "upstreamId": "263343", "text": "Aplasia/Hypoplasia of the breasts" }, { - "baseId": "263344|590077|590078", + "upstreamId": "263344|590077|590078", "text": "Patent ductus arteriosus" }, { - "baseId": "263344|626449|626450", + "upstreamId": "263344|626449|626450", "text": "Patent foramen ovale" }, { - "baseId": "263345|263373|263379|263396", + "upstreamId": "263345|263373|263379|263396", "text": "Abnormality of prenatal development or birth" }, { - "baseId": "263347", + "upstreamId": "263347", "text": "Increased body weight" }, { - "baseId": "263347|513942", + "upstreamId": "263347|513942", "text": "Bipolar affective disorder" }, { - "baseId": "263349", + "upstreamId": "263349", "text": "Delayed skeletal maturation" }, { - "baseId": "263354|513946", + "upstreamId": "263354|513946", "text": "Slurred speech" }, { - "baseId": "263362", + "upstreamId": "263362", "text": "Decreased body weight" }, { - "baseId": "263364|551352", + "upstreamId": "263364|551352", "text": "Involuntary movements" }, { - "baseId": "263391", + "upstreamId": "263391", "text": "Chronic constipation" }, { - "baseId": "263391|263404", + "upstreamId": "263391|263404", "text": "Abnormality of the pinna" }, { - "baseId": "263410", + "upstreamId": "263410", "text": "Kyphoscoliosis" }, { - "baseId": "263415", + "upstreamId": "263415", "text": "30 conditions" }, { - "baseId": "263420", + "upstreamId": "263420", "text": "20 conditions" }, { - "baseId": "263421|513917", + "upstreamId": "263421|513917", "text": "Telecanthus" }, { - "baseId": "263457|263458|263459|263460|263461|263462", + "upstreamId": "263457|263458|263459|263460|263461|263462", "text": "Spermatogenic failure 16" }, { - "baseId": "263522|263523|263524", + "upstreamId": "263522|263523|263524", "text": "Amelogenesis imperfecta, hypomaturation type IIA6" }, { - "baseId": "263630|263631|263632|263633|263634|263635|481389|798686|802203|802204|858570|904911|963173", + "upstreamId": "263630|263631|263632|263633|263634|263635|481389|798686|802203|802204|858570|904911|963173", "text": "Lethal congenital contracture syndrome 11" }, { - "baseId": "263633|434101|622834|677217|966725", + "upstreamId": "263633|434101|622834|677217|966725", "text": "Multiple joint contractures" }, { - "baseId": "263637|263638|263639|263640|263641|539095|800326|800329", + "upstreamId": "263637|263638|263639|263640|263641|539095|800326|800329", "text": "Mental retardation, autosomal recessive 57" }, { - "baseId": "263642|263643|263644|263645|263646|263647|622304|861282", + "upstreamId": "263642|263643|263644|263645|263646|263647|622304|861282", "text": "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy 1" }, { - "baseId": "263648|263649|263650|263651|263652|263653|622322|654120|654121|790223|918764|918765|977185", + "upstreamId": "263648|263649|263650|263651|263652|263653|622322|654120|654121|790223|918764|918765|977185", "text": "Shashi-Pena syndrome" }, { - "baseId": "263781", + "upstreamId": "263781", "text": "16p13.2-p13.13 microduplication syndrome" }, { - "baseId": "263784|263785|263786|263787|263788|263789|263790|263791|263792|263793|410312|445926|578555|578556|578557|613102|622918|622919|679802|679803|756345|788919|797634|798727|798728|798729|858576|858577|917280|961630|961631|964883|964884|965291|966186|974529|974530", + "upstreamId": "263784|263785|263786|263787|263788|263789|263790|263791|263792|263793|410312|445926|578555|578556|578557|613102|622918|622919|679802|679803|756345|788919|797634|798727|798728|798729|858576|858577|917280|961630|961631|964883|964884|965291|966186|974529|974530", "text": "Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum" }, { - "baseId": "263800|362294|362295|362296|362297|362298|362300|362301|362302|362303|443527|511518|550597|612474|613827|798955|918865|963553|963555|964024|970780|972715|977203", + "upstreamId": "263800|362294|362295|362296|362297|362298|362300|362301|362302|362303|443527|511518|550597|612474|613827|798955|918865|963553|963555|964024|970780|972715|977203", "text": "Intellectual developmental disorder with dysmorphic facies and ptosis" }, { - "baseId": "263820", + "upstreamId": "263820", "text": "Developmental and epileptic encephalopathy, 58" }, { - "baseId": "263827|440036|440037|440038|511524|550566|550567|550568|550569|551289|789364|918882|918883|965579|970787|971600", + "upstreamId": "263827|440036|440037|440038|511524|550566|550567|550568|550569|551289|789364|918882|918883|965579|970787|971600", "text": "Intellectual disability, autosomal dominant 50" }, { - "baseId": "263832|966215|966216|966217", + "upstreamId": "263832|966215|966216|966217", "text": "Spermatogenic failure 17" }, { - "baseId": "263969|442630", + "upstreamId": "263969|442630", "text": "GATAD2B-Related Disorder" }, { - "baseId": "263969|861610", + "upstreamId": "263969|861610", "text": "GATAD2B-related intellectual disability syndrome" }, { - "baseId": "263996", + "upstreamId": "263996", "text": "KCNH1-related disorders" }, { - "baseId": "264298", + "upstreamId": "264298", "text": "Dysmorphism" }, { - "baseId": "264298", + "upstreamId": "264298", "text": "Bronchopneumonia" }, { - "baseId": "264314|682988|683032", + "upstreamId": "264314|682988|683032", "text": "Autosomal dominant intermediate Charcot-Marie-Tooth disease" }, { - "baseId": "264319|440711", + "upstreamId": "264319|440711", "text": "Pes valgus" }, { - "baseId": "264323", + "upstreamId": "264323", "text": "Bohring-Opitz-like syndrome" }, { - "baseId": "264339|309188|309201|309206|319813|320336", + "upstreamId": "264339|309188|309201|309206|319813|320336", "text": "Ataxia Neuropathy Spectrum Disorders" }, { - "baseId": "264434|362319|362337|568818", + "upstreamId": "264434|362319|362337|568818", "text": "Malignant migrating partial seizures of infancy" }, { - "baseId": "264436", + "upstreamId": "264436", "text": "Lung carcinoid tumor" }, { - "baseId": "264505|620465", + "upstreamId": "264505|620465", "text": "LIG4-Related Disorders" }, { - "baseId": "264567|268878|485926|485927", + "upstreamId": "264567|268878|485926|485927", "text": "Polycystic liver disease 3 with or without kidney cysts" }, { - "baseId": "264780", + "upstreamId": "264780", "text": "LZTR1-Related Disorder" }, { - "baseId": "264781|495314", + "upstreamId": "264781|495314", "text": "Type III lissencephaly" }, { - "baseId": "264781|495314", + "upstreamId": "264781|495314", "text": "Perisylvian polymicrogyria" }, { - "baseId": "264790|360623", + "upstreamId": "264790|360623", "text": "SHANK3-Related Disorder" }, { - "baseId": "264886", + "upstreamId": "264886", "text": "Autosomal recessive congenital ichthyosis" }, { - "baseId": "264907", + "upstreamId": "264907", "text": "SETBP1-Related Disorder" }, { - "baseId": "265231|548902|961879", + "upstreamId": "265231|548902|961879", "text": "Mucopolysaccharidosistype IIIB" }, { - "baseId": "265814|309751|309760|309954|315004|315130", + "upstreamId": "265814|309751|309760|309954|315004|315130", "text": "Congenital Bile Acid Synthesis Defect" }, { - "baseId": "265917|290290|290291|290295|291117|291140|291142|294446|294759|294783|294807|294831|353648|434719", + "upstreamId": "265917|290290|290291|290295|291117|291140|291142|294446|294759|294783|294807|294831|353648|434719", "text": "Refractory anemia with ringed sideroblasts (clinical)" }, { - "baseId": "266181", + "upstreamId": "266181", "text": "Bilateral cryptorchidism" }, { - "baseId": "266181|424978", + "upstreamId": "266181|424978", "text": "Microphallus" }, { - "baseId": "266421", + "upstreamId": "266421", "text": "COL6A2-related disorder" }, { - "baseId": "266655|362641|362642|362643|362644|362645|362646|362647|362648|362649|424974|424975|424976|424977|424978|424979|424980|424981|424982|424983|919791|919792|977289", + "upstreamId": "266655|362641|362642|362643|362644|362645|362646|362647|362648|362649|424974|424975|424976|424977|424978|424979|424980|424981|424982|424983|919791|919792|977289", "text": "Arrhinia with choanal atresia and microphthalmia syndrome" }, { - "baseId": "266844", + "upstreamId": "266844", "text": "DCTN1-Related Disorders" }, { - "baseId": "267083|788813", + "upstreamId": "267083|788813", "text": "ISPD-Related Disorder" }, { - "baseId": "267212|291300|292374|295765|295766|295767|295779", + "upstreamId": "267212|291300|292374|295765|295766|295767|295779", "text": "Combined Pituitary Hormone Deficiency, Dominant/Recessive" }, { - "baseId": "267516|788752", + "upstreamId": "267516|788752", "text": "COL6A3-related phenotype" }, { - "baseId": "268941|613525|613526|613527", + "upstreamId": "268941|613525|613526|613527", "text": "Cryptophthalmos, unilateral or bilateral, isolated" }, { - "baseId": "269933|361051|481389|551433|551434", + "upstreamId": "269933|361051|481389|551433|551434", "text": "Congenital contracture" }, { - "baseId": "270258|275547|439932|551421|551422|551423|624837|624838|677261|677262|677263|677264", + "upstreamId": "270258|275547|439932|551421|551422|551423|624837|624838|677261|677262|677263|677264", "text": "Scapulohumeral muscular dystrophy" }, { - "baseId": "270565|278166|278175|279150|279177|279183|279302|279352", + "upstreamId": "270565|278166|278175|279150|279177|279183|279302|279352", "text": "Isolated Hyperparathyroidism" }, { - "baseId": "270687|513914|514010", + "upstreamId": "270687|513914|514010", "text": "Fatty replacement of skeletal muscle" }, { - "baseId": "271513", + "upstreamId": "271513", "text": "Genu varum" }, { - "baseId": "271861", + "upstreamId": "271861", "text": "Proximal muscle weakness in lower limbs" }, { - "baseId": "271919|275126|363960|454663|454673|454675|454676|454734|454745|454771|454774|455202|455236|455459|455473|520795|521066|521089|521186|521292|564874|587393|622347|633523|683709|683710|683711|683712|683713|683714|683717|683718|685178|685179|685181|686702|686705|691761|691763|721263|830380|830400|830401|830422|830423|851919|932739|932740|932753|932754|944424|944425|944438|954059", + "upstreamId": "271919|275126|363960|454663|454673|454675|454676|454734|454745|454771|454774|455202|455236|455459|455473|520795|521066|521089|521186|521292|564874|587393|622347|633523|683709|683710|683711|683712|683713|683714|683717|683718|685178|685179|685181|686702|686705|691761|691763|721263|830380|830400|830401|830422|830423|851919|932739|932740|932753|932754|944424|944425|944438|954059", "text": "Infantile dystonia-parkinsonism" }, { - "baseId": "272211|318515|318517|318518|318520|318521|318526|318527|326695|326697|326709|326716|332916|334598|342546|342554|353257", + "upstreamId": "272211|318515|318517|318518|318520|318521|318526|318527|326695|326697|326709|326716|332916|334598|342546|342554|353257", "text": "Centronuclear Myopathy, Dominant" }, { - "baseId": "272947", + "upstreamId": "272947", "text": "Alagille syndrome, ATP8B1 related" }, { - "baseId": "273103|320737|320738|320744|329581|329583|329585|329586|336200|336203|336206|336207|338097|338103|338104|338106|353303", + "upstreamId": "273103|320737|320738|320744|329581|329583|329585|329586|336200|336203|336206|336207|338097|338103|338104|338106|353303", "text": "OTX2-Related Syndromic Microphthalmia" }, { - "baseId": "273447|440064", + "upstreamId": "273447|440064", "text": "SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY" }, { - "baseId": "273697|576106", + "upstreamId": "273697|576106", "text": "Spinocerebellar ataxia type 15/16" }, { - "baseId": 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+ "upstreamId": "274984|424400|424401|424401|424402|424403|424405|452592|452593|452598|452600|452601|452607|452608|452621|452626|452631|452633|452636|452638|452644|452651|452653|452655|452657|452659|452663|452664|452667|452675|452679|452680|452682|452683|452686|452687|452689|452691|452875|452878|452880|452881|452884|452888|452891|452892|452894|452896|452897|452901|452903|452907|452908|452913|452915|452916|452917|452920|452923|452924|452925|452926|452927|452929|452930|452932|452933|452934|452935|452937|452938|452939|452941|452944|452945|452946|452947|452948|452951|452953|452955|452963|452964|452966|452969|452970|452971|452973|452974|452975|452976|452977|452978|452982|452984|452986|452988|452994|452996|452997|453006|453007|453008|453010|453016|453018|453026|453030|453032|453033|453036|453144|453146|453151|453155|453160|453163|453170|453176|453188|453190|453191|453194|453195|453207|453210|453212|453214|453220|453221|453222|453238|453247|453251|453253|453256|453258|453261|453270|453281|453289|453296|453314|453316|453319|453320|453325|453328|519458|519463|519467|519476|519480|519482|519484|519485|519486|519487|519488|519490|519491|519493|519495|519496|519499|519504|519505|519506|519508|519509|519511|519512|519517|519519|519520|519521|519522|519527|519529|519531|519534|519535|519537|519546|519553|519555|519559|519560|519563|519568|519573|519579|519583|519653|519655|519662|519664|519675|519679|519683|519696|519698|519704|519709|519711|519713|519715|519716|519720|519722|519724|519727|519744|519746|519749|519755|519757|519762|519764|519766|519769|519770|519775|519777|519781|519783|519787|519791|519793|519797|519799|519801|559076|559078|559080|559082|559084|559086|559088|559090|559092|559094|559096|559606|559608|559610|559612|559614|559616|559618|559620|559622|559624|559626|559628|559630|559632|559634|559636|561704|561709|561710|561712|561717|561722|561723|561726|561730|561744|561745|561750|563162|563167|563169|563174|563177|563186|563192|563193|563197|563204|578020|631628|631629|631630|631631|631632|631633|631634|631635|631636|631637|631638|631639|631640|631641|631642|631643|631644|631645|631646|631647|631648|631649|631650|631651|631652|631653|631654|631655|631656|631657|631658|631659|631660|631661|631662|631663|631664|631665|631666|631667|631668|631669|631670|631671|631672|631673|631674|631675|631676|631677|631678|631679|631680|631681|631681|631682|631683|631684|631685|631686|631687|631688|631689|631690|631691|631692|631693|631694|631695|631696|631697|691457|691458|691459|691460|691461|691462|691463|691464|691465|691466|691467|691468|695212|695213|698199|698202|698203|698204|698205|698206|698207|698209|698210|698212|698213|698215|698217|698219|698220|698221|698222|698223|708960|708961|708964|708965|708968|708970|708971|720554|720555|720556|720557|720558|720560|720562|720563|720565|720566|734192|734196|734198|734200|734203|743942|744030|748413|748418|748419|748421|748426|759217|759227|764056|764059|764060|764066|764067|764071|764077|774864|777264|777267|777383|779070|781759|781761|781767|781771|828408|828409|828410|828411|828412|828413|828414|828415|828416|828417|828418|828419|828420|828421|828422|828423|828424|828425|828426|828427|828428|828429|828430|828431|828432|828433|828434|828435|828436|828437|828438|828439|828440|828441|828442|828443|828444|828445|828446|828447|828448|828449|828450|828451|828452|828453|850956|851067|851572|851574|857588|857589|923285|923286|923287|923288|923289|923290|923291|923292|923293|923294|923295|923296|923297|923298|923299|923300|923301|923302|932040|932041|932042|932043|932044|932045|932046|932047|932048|932049|932050|932051|932052|932053|940760|943650|943651|943652|943653|943654|943655|943656|943657|943658|943659|943660|943661|943662|943663|943664|943665|943666|943667|953562|953563|953564|953565|953566|953567|953568|959704|984046", "text": "Spermatogenic failure 18" }, { - "baseId": "275543|405860|513918", + "upstreamId": "275543|405860|513918", "text": "Hereditary nonpolyposis colorectal carcinoma" }, { - "baseId": "275544|417650|417652|417653|417655|439920|439921|439922|439923|439924|540863|551399|551400|624829|624830|677210", + "upstreamId": "275544|417650|417652|417653|417655|439920|439921|439922|439923|439924|540863|551399|551400|624829|624830|677210", "text": "Low alkaline phosphatase" }, { - "baseId": "276313|361272|613956|613989|653992|672131|918552", + "upstreamId": "276313|361272|613956|613989|653992|672131|918552", "text": "1q21.1 recurrent microdeletion" }, { - "baseId": "276529|277059|348590", + "upstreamId": "276529|277059|348590", "text": "Juvenile hemochromatosis" }, { - "baseId": "276671|276673|276686|276691|276726|276763|276949|276950|276955|277004|277518|277521|277522|277526|277528|277548|277604|277610|277611|277623|277627|277653|277727|277730|277732|277750|277761|331920|331961|338923|338944|340546|340556", + "upstreamId": "276671|276673|276686|276691|276726|276763|276949|276950|276955|277004|277518|277521|277522|277526|277528|277548|277604|277610|277611|277623|277627|277653|277727|277730|277732|277750|277761|331920|331961|338923|338944|340546|340556", "text": "Spherocytosis, Recessive" }, { - "baseId": "276776|276786|276789|277042|277056|277061|277062|277074|277618|277644|277648|277682|277773", + "upstreamId": "276776|276786|276789|277042|277056|277061|277062|277074|277618|277644|277648|277682|277773", "text": "Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, and Electrolyte Imbalance Syndrome" }, { - "baseId": "277021|277929|277938|278116", + "upstreamId": "277021|277929|277938|278116", "text": "Age-related cortical cataract" }, { - "baseId": "277054|278133|278135|312079|317744|317745|677478|677479|677480|677481", + "upstreamId": "277054|278133|278135|312079|317744|317745|677478|677479|677480|677481", "text": "Spondyloepimetaphyseal dysplasia" }, { - "baseId": "277189|277190|277193|277897|277898|277899|278001|862587|862588", + "upstreamId": "277189|277190|277193|277897|277898|277899|278001|862587|862588", "text": "Apolipoprotein A-II deficiency" }, { - "baseId": "277426", + "upstreamId": "277426", "text": "Lung cancer" }, { - "baseId": "277497|277499|320737|320744|336200|353303", + "upstreamId": "277497|277499|320737|320744|336200|353303", "text": "Combined Pituitary Hormone Deficiency, Dominant" }, { - "baseId": "278098|278128|278134|278151|278153|278158|279063", + "upstreamId": "278098|278128|278134|278151|278153|278158|279063", "text": "Hyperprolinemia" }, { - "baseId": "278181|278221|278238|279432", + "upstreamId": "278181|278221|278238|279432", "text": "Mesangiocapillary glomerulonephritis, type II" }, { - "baseId": "278248", + "upstreamId": "278248", "text": "Factor XIII deficiency" }, { - "baseId": "278548|278549|278557|278569|278588|278644|278645|278656|278658|278672|278676|278679|279809|279814|279815|279865|279913|279965|279966|279967|279973|279978|279979|283113|283121|283314|337898|347509|347512|351415|351422|352418|352435", + "upstreamId": "278548|278549|278557|278569|278588|278644|278645|278656|278658|278672|278676|278679|279809|279814|279815|279865|279913|279965|279966|279967|279973|279978|279979|283113|283121|283314|337898|347509|347512|351415|351422|352418|352435", "text": "Parkinson Disease, Recessive" }, { - "baseId": "279390", + "upstreamId": "279390", "text": "CFH-Related Disorders" }, { - "baseId": "279499|279511|279525|279526|279538|279571|279577|279772|279778|279779|279823|279851|281080|281103|281104|281198|281208|281211|286491|286513|286566|286567|286570|286571|286574|286576|287198|287218|287275|287304|289524|289540|289580|289615|289636|289996|290004|290006|342710|342733", + "upstreamId": "279499|279511|279525|279526|279538|279571|279577|279772|279778|279779|279823|279851|281080|281103|281104|281198|281208|281211|286491|286513|286566|286567|286570|286571|286574|286576|287198|287218|287275|287304|289524|289540|289580|289615|289636|289996|290004|290006|342710|342733", "text": "Familial erythrocytosis" }, { - "baseId": "281004|281015|282531|292021|293384|293443|293457|296773", + "upstreamId": "281004|281015|282531|292021|293384|293443|293457|296773", "text": "Renal Hypomagnesemia, Recessive" }, { - "baseId": "281045|321108|321109|330235|330237|330257|330288|338733|346275|346276|350532|350533|351571|351575|353095|353305|353588", + "upstreamId": "281045|321108|321109|330235|330237|330257|330288|338733|346275|346276|350532|350533|351571|351575|353095|353305|353588", "text": "Early-onset autosomal dominant Alzheimer disease" }, { - "baseId": "281496|353107", + "upstreamId": "281496|353107", "text": "Corneal Dystrophy, Dominant/Recessive" }, { - "baseId": "281844|281846|281847|281851|281852|281858|281859|281860|281866|281867|281872|281877|281878|281882|281883|281884|281888|281889|282500|282503|282506|282507|282508|282509|282510|282512|282513|282514|282521|282524|282525|284144|284145|284150|284151|284152|284154|284157|284158|284161|284162|284165|284166|284168|284181|284187|284357|284362|284368|284372|284373|284374|284375|284376|284379|284380|284384|284388|284389|284428|284435", + "upstreamId": "281844|281846|281847|281851|281852|281858|281859|281860|281866|281867|281872|281877|281878|281882|281883|281884|281888|281889|282500|282503|282506|282507|282508|282509|282510|282512|282513|282514|282521|282524|282525|284144|284145|284150|284151|284152|284154|284157|284158|284161|284162|284165|284166|284168|284181|284187|284357|284362|284368|284372|284373|284374|284375|284376|284379|284380|284384|284388|284389|284428|284435", "text": "Lactose intolerance" }, { - "baseId": "282038|486871|623098|623099", + "upstreamId": "282038|486871|623098|623099", "text": "fluorouracil response - Other" }, { - "baseId": "282781|285149", + "upstreamId": "282781|285149", "text": "Cerebral palsy spastic quadriplegic" }, { - "baseId": "283062|492849|620009", + "upstreamId": "283062|492849|620009", "text": "NPHP4-Related Disorders" }, { - "baseId": "283136|540578", + "upstreamId": "283136|540578", "text": "Blue rubber bleb nevus" }, { - "baseId": "283818|283833|285439|285465|285842", + "upstreamId": "283818|283833|285439|285465|285842", "text": "Duane's syndrome" }, { - "baseId": "283970|283979|283982|284743|286639|287065|287073|314616|314619|314621|353123|353124", + "upstreamId": "283970|283979|283982|284743|286639|287065|287073|314616|314619|314621|353123|353124", "text": "Amyotrophic Lateral Sclerosis, Recessive" }, { - "baseId": "284729|284732|284737|284740|285403|287631|287632|287635|287862|287863|287865|287866|287872|287873|287876|320533|320538|320539|337831|550215|550220", + "upstreamId": "284729|284732|284737|284740|285403|287631|287632|287635|287862|287863|287865|287866|287872|287873|287876|320533|320538|320539|337831|550215|550220", "text": "Selective tooth agenesis" }, { - "baseId": "284860|285486|285529|287809|288109|302986|307420|307642|413879", + "upstreamId": "284860|285486|285529|287809|288109|302986|307420|307642|413879", "text": "3-M syndrome" }, { - "baseId": "285302", + "upstreamId": "285302", "text": "Ichthyosis, congenital, autosomal recessive 4B (harlequin)" }, { - "baseId": "286219|286231|286234|286939|286957|286958|286963|289274|289292|289293|289628|289633|289635|289671|330539|337117|339038|339058|906005", + "upstreamId": "286219|286231|286234|286939|286957|286958|286963|289274|289292|289293|289628|289633|289635|289671|330539|337117|339038|339058|906005", "text": "Primary congenital glaucoma" }, { - "baseId": "286357", + "upstreamId": "286357", "text": "Familial Atypical Mycobacteriosis, Autosomal Dominant" }, { - "baseId": "286783|286785|286821|289103|289459", + "upstreamId": "286783|286785|286821|289103|289459", "text": "Xanthinuria" }, { - "baseId": "287756|287757|287763|287773|287775|288443|288444|288445|291332|291480|367104|425513|451516|451793|451985|451991|518654|518656|518696|518698|518783|518785|518794|518877|518885|537357|558698|559213|559215|561031|561033|562146|562150|562155|621141|624251|624252|630656|630657|630658|630659|630660|630661|630662|630663|630664|630665|630666|630667|630668|630669|630670|651024|691238|691239|691240|691241|691242|691243|697713|708418|720016|720017|747833|763475|779061|781489|781490|787344|819291|827181|827182|827183|827184|827185|827186|827187|850925|851448|851450|922957|922958|922959|922960|922961|922962|922963|931641|931642|931643|931644|943186|943187|943188|943189", + "upstreamId": "287756|287757|287763|287773|287775|288443|288444|288445|291332|291480|367104|425513|451516|451793|451985|451991|518654|518656|518696|518698|518783|518785|518794|518877|518885|537357|558698|559213|559215|561031|561033|562146|562150|562155|621141|624251|624252|630656|630657|630658|630659|630660|630661|630662|630663|630664|630665|630666|630667|630668|630669|630670|651024|691238|691239|691240|691241|691242|691243|697713|708418|720016|720017|747833|763475|779061|781489|781490|787344|819291|827181|827182|827183|827184|827185|827186|827187|850925|851448|851450|922957|922958|922959|922960|922961|922962|922963|931641|931642|931643|931644|943186|943187|943188|943189", "text": "ZAP70-Related Severe Combined Immunodeficiency" }, { - "baseId": "288124|288863|288876|291805|291811|291813|291910|291921|291925|291927", + "upstreamId": "288124|288863|288876|291805|291811|291813|291910|291921|291925|291927", "text": "Hereditary essential tremor" }, { - "baseId": "289467|289492|292684|292690", + "upstreamId": "289467|289492|292684|292690", "text": "Retinitis Pigmentosa, Dominant/Recessive" }, { - "baseId": "289626|289643|289644|290377|293464|293995|293999|294000|300208", + "upstreamId": "289626|289643|289644|290377|293464|293995|293999|294000|300208", "text": "3-MCC Deficiency" }, { - "baseId": "289693|289714|290450|290472|290485|290486|293545|293548|294144|353647|857675|966850", + "upstreamId": "289693|289714|290450|290472|290485|290486|293545|293548|294144|353647|857675|966850", "text": "Ectrodactyly" }, { - "baseId": "290633|290908|299994|300007|303437|304559|316173|323452|330859", + "upstreamId": "290633|290908|299994|300007|303437|304559|316173|323452|330859", "text": "Distal hereditary motor neuronopathy" }, { - "baseId": "290768|295268|305600|305605|305607|305608|309418|309460|309471|309492|309506|314732|314756|314789|314807|314902|349927|550229", + "upstreamId": "290768|295268|305600|305605|305607|305608|309418|309460|309471|309492|309506|314732|314756|314789|314807|314902|349927|550229", "text": "Chondrodysplasia" }, { - "baseId": "291486|291487|291491|291506|291528|291536|291540|291544|291547|291550|291551|292723|292726|292730|292742|292751|292752|292769|292780|292786|292791|292815|292817|292819|292838|296049|296050|296052|296053|296054|296066|296068|296075|296080|296085|296086|296095|296096|296108|296112|296143|296146|296148|296160|296164|296165|296168|296186|353652", + "upstreamId": "291486|291487|291491|291506|291528|291536|291540|291544|291547|291550|291551|292723|292726|292730|292742|292751|292752|292769|292780|292786|292791|292815|292817|292819|292838|296049|296050|296052|296053|296054|296066|296068|296075|296080|296085|296086|296095|296096|296108|296112|296143|296146|296148|296160|296164|296165|296168|296186|353652", "text": "Intellectual Disability with Language Impairment and Autistic Features" }, { - "baseId": "291598|291633|292886|292960|296241|296285|296299|353653|513583|514016|672257|918956", + "upstreamId": "291598|291633|292886|292960|296241|296285|296299|353653|513583|514016|672257|918956", "text": "Vesicoureteral reflux" }, { - "baseId": "292032|296771", + "upstreamId": "292032|296771", "text": "Axenfeld-rieger anomaly" }, { - "baseId": "292897|292903|292915|294262|294272|294273|297810|297814|297819|310626|315866|322615|322616|322623|322628", + "upstreamId": "292897|292903|292915|294262|294272|294273|297810|297814|297819|310626|315866|322615|322616|322623|322628", "text": "BH4-Deficient Hyperphenylalaninemia" }, { - "baseId": "293096|293159|294525|294542|298033|298080|538368|590769|590770|590771|613968|614004|614086|918868|918890", + "upstreamId": "293096|293159|294525|294542|298033|298080|538368|590769|590770|590771|613968|614004|614086|918868|918890", "text": "4p partial monosomy syndrome" }, { - "baseId": "293322", + "upstreamId": "293322", "text": "CFI-Related Disorders" }, { - "baseId": "294077|295541|295549|299343|329076|329088|345114|345117|346473", + "upstreamId": "294077|295541|295549|299343|329076|329088|345114|345117|346473", "text": "Amelogenesis Imperfecta, Dominant" }, { - "baseId": "294818|296525|296526|300251|300258|300260|300285", + "upstreamId": "294818|296525|296526|300251|300258|300260|300285", "text": "Sensory Neuropathy with Spastic Paraplegia" }, { - "baseId": "295091|295093|295096|295098|296916|296924|296927|300552|300556|300558|300665|300668|300669|300681|353676", + "upstreamId": "295091|295093|295096|295098|296916|296924|296927|300552|300556|300558|300665|300668|300669|300681|353676", "text": "Leukodystrophy, Adult-Onset" }, { - "baseId": "295612|295616|297372|301288|301457|353678|575496", + "upstreamId": "295612|295616|297372|301288|301457|353678|575496", "text": "Distal myopathy" }, { - "baseId": "295661", + "upstreamId": "295661", "text": "Hyperthyroxinemia, dysalbuminemic" }, { - "baseId": "295791|295801|295837|295941|295944|295950|295955|297605|297612|297661|297674|297675|301566|301574|301584|301599|301602|301671|301672|301734|301751|301758|301772|301775|301778|301780|301790|301866|301871", + "upstreamId": "295791|295801|295837|295941|295944|295950|295955|297605|297612|297661|297674|297675|301566|301574|301584|301599|301602|301671|301672|301734|301751|301758|301772|301775|301778|301780|301790|301866|301871", "text": "Craniometaphyseal dysplasia" }, { - "baseId": "295791|295801|295837|295941|295944|295950|295955|297605|297612|297661|297674|297675|301566|301574|301584|301599|301602|301671|301672|301734|301751|301758|301772|301775|301778|301780|301790|301866|301871", + "upstreamId": "295791|295801|295837|295941|295944|295950|295955|297605|297612|297661|297674|297675|301566|301574|301584|301599|301602|301671|301672|301734|301751|301758|301772|301775|301778|301780|301790|301866|301871", "text": "Chondrocalcinosis" }, { - "baseId": "296421|296456|302452|302691", + "upstreamId": "296421|296456|302452|302691", "text": "Treacher Collins Syndrome, Dominant" }, { - "baseId": "296470|434560", + "upstreamId": "296470|434560", "text": "Acute Porphyria" }, { - "baseId": "296638|298531|338796|338799|348400|348414|348437|348443|352024|352027|352031|352034|352035|352737|352738|352739|352740|352742|352743|353862", + "upstreamId": "296638|298531|338796|338799|348400|348414|348437|348443|352024|352027|352031|352034|352035|352737|352738|352739|352740|352742|352743|353862", "text": "Lymphoproliferative syndrome" }, { - "baseId": "297688|297692|297693|297694|297697|297698|297704|297707|297708|297714|297716|297722|297723|297730|297733|297734|297736|297741|297745|297748|297752|297756|297762|297765|297766|297767|297771|297772|297776|297779|297780|297781|297788|297797|297798|297799|297805|297807|299875|299877|299893|299894|299896|299914|299925|299927|299929|299931|299939|299940|299941|299945|299947|299949|299950|299951|299955|299960|299962|299965|299967|299970|299971|299972|299984|304058|304059|304064|304069|304070|304071|304073|304075|304077|304078|304079|304080|304084|304085|304090|304101|304102|304110|304115|304118|304119|304120|304123|304130|304133|304134|304141|304142|304143|304154|304155|304158|304159|304168|304169|304171|304176|304191|304201|304202|304203|304411|304412|304415|304417|304419|304422|304423|304424|304426|304428|304429|304436|304437|304438|304441|304442|304445|304447|304448|304449|304451|304453|304458|304469|304471|304474|304475|304481|304482|304488|304490|304493|304494|304496|304497|304498|304507|304521|304522|735128|790563|894421|894422|894423|894424|894425|894426|894427|894428|894429|894430|894431|894432|894433|894434|894435|894436|894437|894438|894439|894440|894441|894442|894443|894444|894445|894446|894447|894448|894449|894450|894451|894452|894453|894454|894455|894456|894457|894458|894459|894460|894461|894462|894463|894464|894465|894466|894467|894468|894469|894470|894471|894472|894473|894474|894475|894476|894477|894484|894485|894487|894488|894489|894491|894492|896114|896115|896116", + "upstreamId": "297688|297692|297693|297694|297697|297698|297704|297707|297708|297714|297716|297722|297723|297730|297733|297734|297736|297741|297745|297748|297752|297756|297762|297765|297766|297767|297771|297772|297776|297779|297780|297781|297788|297797|297798|297799|297805|297807|299875|299877|299893|299894|299896|299914|299925|299927|299929|299931|299939|299940|299941|299945|299947|299949|299950|299951|299955|299960|299962|299965|299967|299970|299971|299972|299984|304058|304059|304064|304069|304070|304071|304073|304075|304077|304078|304079|304080|304084|304085|304090|304101|304102|304110|304115|304118|304119|304120|304123|304130|304133|304134|304141|304142|304143|304154|304155|304158|304159|304168|304169|304171|304176|304191|304201|304202|304203|304411|304412|304415|304417|304419|304422|304423|304424|304426|304428|304429|304436|304437|304438|304441|304442|304445|304447|304448|304449|304451|304453|304458|304469|304471|304474|304475|304481|304482|304488|304490|304493|304494|304496|304497|304498|304507|304521|304522|735128|790563|894421|894422|894423|894424|894425|894426|894427|894428|894429|894430|894431|894432|894433|894434|894435|894436|894437|894438|894439|894440|894441|894442|894443|894444|894445|894446|894447|894448|894449|894450|894451|894452|894453|894454|894455|894456|894457|894458|894459|894460|894461|894462|894463|894464|894465|894466|894467|894468|894469|894470|894471|894472|894473|894474|894475|894476|894477|894484|894485|894487|894488|894489|894491|894492|896114|896115|896116", "text": "Platelet-type bleeding disorder 9" }, { - "baseId": "297720|301638|443707|633559|915005|915006|915007|915008|915009", + "upstreamId": "297720|301638|443707|633559|915005|915006|915007|915008|915009", "text": "Susceptibility to nonsyndromic otitis media" }, { - "baseId": "298067|304539|304545|304549|304586|304588|304832|304843|304860|304890|304891|304892", + "upstreamId": "298067|304539|304545|304549|304586|304588|304832|304843|304860|304890|304891|304892", "text": "Striatal Degeneration" }, { - "baseId": "298149|298164|298165|298173|302208|302439|302480|302486|302487|321763|331064|331098|337834|339817|339910", + "upstreamId": "298149|298164|298165|298173|302208|302439|302480|302486|302487|321763|331064|331098|337834|339817|339910", "text": "Achondrogenesis" }, { - "baseId": "298149|298164|298165|298173|302208|302439|302480|302486|302487", + "upstreamId": "298149|298164|298165|298173|302208|302439|302480|302486|302487", "text": "Atelosteogenesis" }, { - "baseId": "298362|298377|298378|298388|300646|300655|300690|300691|304999|305015|305016|305020|305065|305082|305088|305200|305209|305235", + "upstreamId": "298362|298377|298378|298388|300646|300655|300690|300691|304999|305015|305016|305020|305065|305082|305088|305200|305209|305235", "text": "Intellectual Disability, Stereotypic Movements, Epilepsy, and/or Cerebral Malformations" }, { - "baseId": "298502|298504|298510|300802|305165|305186|353739", + "upstreamId": "298502|298504|298510|300802|305165|305186|353739", "text": "Adult i blood group with or without congenital cataract" }, { - "baseId": "298591|302698|302716|302728|303023|303031", + "upstreamId": "298591|302698|302716|302728|303023|303031", "text": "Familial Atypical Mycobacteriosis, Autosomal Recessive" }, { - "baseId": "298705", + "upstreamId": "298705", "text": "Hyperparathyroidism 4" }, { - "baseId": "298732|305568|578440", + "upstreamId": "298732|305568|578440", "text": "FIG4-Related Disorders" }, { - "baseId": "298997|299002|299010|299023|299038|299788|299874|299882|301490|305803|305804|305807|305834|305835|305850|305856|305868|306031|306033|306046|306081|306100|353673|353743", + "upstreamId": "298997|299002|299010|299023|299038|299788|299874|299882|301490|305803|305804|305807|305834|305835|305850|305856|305868|306031|306033|306046|306081|306100|353673|353743", "text": "Hypophosphatemic Rickets, Recessive" }, { - "baseId": "299551|302086|302108|306529|306800|306813", + "upstreamId": "299551|302086|302108|306529|306800|306813", "text": "Parkinson Disease, Juvenile" }, { - "baseId": "299835|302415|302421|306831|306838|306848|306853|307133|307137|307138|654413", + "upstreamId": "299835|302415|302421|306831|306838|306848|306853|307133|307137|307138|654413", "text": "Trichohepatoenteric syndrome" }, { - "baseId": "300173|307361|307363|307369|307578", + "upstreamId": "300173|307361|307363|307369|307578", "text": "Choroidal Dystrophy" }, { - "baseId": "300173|307361|307363|307369|307578", + "upstreamId": "300173|307361|307363|307369|307578", "text": "Vitelliform macular dystrophy" }, { - "baseId": "300174", + "upstreamId": "300174", "text": "PEX6 POLYMORPHISM" }, { - "baseId": "300241|300244|300245", + "upstreamId": "300241|300244|300245", "text": "Treacher Collins Syndrome, Recessive" }, { - "baseId": "300941|308567|308577|308607", + "upstreamId": "300941|308567|308577|308607", "text": "Stickler Syndrome, Recessive" }, { - "baseId": "300968|300969", + "upstreamId": "300968|300969", "text": "Corneal Dystrophy, Dominant" }, { - "baseId": "302011|513576", + "upstreamId": "302011|513576", "text": "AGK-Related Disorders" }, { - "baseId": "303612|303655|307094|329115|329116|329117|329118|329119|329120|329121|329133|329136|329137|339236|339242|339248|345143|345153|346516|346533|346537|346539|346540|346545|346569", + "upstreamId": "303612|303655|307094|329115|329116|329117|329118|329119|329120|329121|329133|329136|329137|339236|339242|339248|345143|345153|346516|346533|346537|346539|346540|346545|346569", "text": "Osteogenesis Imperfecta, Dominant" }, { - "baseId": "303959|303972|304052|307523|307580|307638|307639|307643|312524|312531|312578|312592|312617|312627|312658|312670|312678|312712|312791|312792", + "upstreamId": "303959|303972|304052|307523|307580|307638|307639|307643|312524|312531|312578|312592|312617|312627|312658|312670|312678|312712|312791|312792", "text": "Trichorhinophalangeal syndrome" }, { - "baseId": "304081|307646|312825|327530|353822|353823", + "upstreamId": "304081|307646|312825|327530|353822|353823", "text": "Hereditary Multiple Osteochondromatosis" }, { - "baseId": "304344|313094", + "upstreamId": "304344|313094", "text": "Thyroid dyshormonogenesis" }, { - "baseId": "304422|440020", + "upstreamId": "304422|440020", "text": "Fetal and neonatal alloimmune thrombocytopenia" }, { - "baseId": "304821", + "upstreamId": "304821", "text": "HR-Related Disorders" }, { - "baseId": "304863|313665", + "upstreamId": "304863|313665", "text": "Alopecia universalis" }, { - "baseId": "305780|305788|309798|315034|315167|353842", + "upstreamId": "305780|305788|309798|315034|315167|353842", "text": "Familial temporal lobe epilepsy 2" }, { - "baseId": "305825|305826|305827|309830|309831|309833|309891|309902|309906|315068|315070|315185|315187|320766|320772|329627|329629|338132|338140|338146|338147|338153|353304|353843", + "upstreamId": "305825|305826|305827|309830|309831|309833|309891|309902|309906|315068|315070|315185|315187|320766|320772|329627|329629|338132|338140|338146|338147|338153|353304|353843", "text": "Branchiootorenal Spectrum Disorders" }, { - "baseId": "306222|306223|306229|306254|310358|315626", + "upstreamId": "306222|306223|306229|306254|310358|315626", "text": "Hypercholanemia" }, { - "baseId": "306295|306326|306354|306364|306369|310418|310442|310448|310465|310555|312419|315768|315803|315922|315965|316109|316138|316143|353848", + "upstreamId": "306295|306326|306354|306364|306369|310418|310442|310448|310465|310555|312419|315768|315803|315922|315965|316109|316138|316143|353848", "text": "Familial High Density Lipoprotein Deficiency" }, { - "baseId": "306385", + "upstreamId": "306385", "text": "Autosomal recessive myogenic arthrogryposis multiplex congenita" }, { - "baseId": "307152", + "upstreamId": "307152", "text": "SETX-Related Disorders" }, { - "baseId": "307675", + "upstreamId": "307675", "text": "POLR1C-Related Disorders" }, { - "baseId": "307975|822303", + "upstreamId": "307975|822303", "text": "Dysequilibrium syndrome" }, { - "baseId": "308072|308081|308082|308084|308089|308091|312430|312468|318241|318264|318267|318269|318288|318304|318333|318769|318772|318773", + "upstreamId": "308072|308081|308082|308084|308089|308091|312430|312468|318241|318264|318267|318269|318288|318304|318333|318769|318772|318773", "text": "Amyotrophic Lateral Sclerosis/Frontotemporal Dementia" }, { - "baseId": "308306|349927", + "upstreamId": "308306|349927", "text": "Acromesomelic dysplasia" }, { - "baseId": "308753|308755|308767|308769|308770|308825|308827|313373|313397|313430|313431|319222|319223|319225|319228|319240|319242|319793|319818|319826|319838|319842|319868|441341|441343|441345|441346|441348|441352|441353|441355|444515|444516|508843|577133|638388|684104|684106|684107|684108|684109|684110|684112|684113|684114|684115|684117|684118|684119|684120|685255|685256|685257|685258|685259|685261|685262|687502|687503|687504|687505|687506|687508|687510|687514|687517|687520|687525|687526|687527|687528|687529|687530|687532|687534|687536|687537|687541|687542|687544|687546|689959|689960|692690|692691|692692|692693|701062|751775|767478|793356|793357|836249|978597|978598|978599|978600|978601|978602|978603|978604|978605|978606|978607|978608|978609|978610|978611|978612|978613", + "upstreamId": "308753|308755|308767|308769|308770|308825|308827|313373|313397|313430|313431|319222|319223|319225|319228|319240|319242|319793|319818|319826|319838|319842|319868|441341|441343|441345|441346|441348|441352|441353|441355|444515|444516|508843|577133|638388|684104|684106|684107|684108|684109|684110|684112|684113|684114|684115|684117|684118|684119|684120|685255|685256|685257|685258|685259|685261|685262|687502|687503|687504|687505|687506|687508|687510|687514|687517|687520|687525|687526|687527|687528|687529|687530|687532|687534|687536|687537|687541|687542|687544|687546|689959|689960|692690|692691|692692|692693|701062|751775|767478|793356|793357|836249|978597|978598|978599|978600|978601|978602|978603|978604|978605|978606|978607|978608|978609|978610|978611|978612|978613", "text": "Choreaacanthocytosis" }, { - "baseId": "308951", + "upstreamId": "308951", "text": "Nonsyndromic Trigonocephaly" }, { - "baseId": "308989|361703|361704|361705|361708|361722", + "upstreamId": "308989|361703|361704|361705|361708|361722", "text": "Craniosynostosis, nonspecific" }, { - "baseId": "309261|309264|319840|320338|581825|581826", + "upstreamId": "309261|309264|319840|320338|581825|581826", "text": "Split-hand/foot malformation" }, { - "baseId": "309369|325180|353162", + "upstreamId": "309369|325180|353162", "text": "Renal Hypomagnesemia, Dominant" }, { - "baseId": "309832|309946|309949|314979|320866|321455|514035|514036", + "upstreamId": "309832|309946|309949|314979|320866|321455|514035|514036", "text": "Megaloblastic anemia" }, { - "baseId": "309908", + "upstreamId": "309908", "text": "Mitochondrial Complex V (ATP Synthase) Deficiency, Nuclear Type" }, { - "baseId": "310915|329340|348274|353447|353448|353449", + "upstreamId": "310915|329340|348274|353447|353448|353449", "text": "Isolated growth hormone deficiency" }, { - "baseId": "311110|311116|311117|316391|316412|323186|481315", + "upstreamId": "311110|311116|311117|316391|316412|323186|481315", "text": "KAT6B-Related Spectrum Disorders" }, { - "baseId": "311122|620263", + "upstreamId": "311122|620263", "text": "GLI3-Related Disorders" }, { - "baseId": "311576|311581|311582|311586|311592|311593|317166|317170|323197|323201|323202|323203|323776|353158|682675", + "upstreamId": "311576|311581|311582|311586|311592|311593|317166|317170|323197|323201|323202|323203|323776|353158|682675", "text": "Moyamoya disease" }, { - "baseId": "312348", + "upstreamId": "312348", "text": "Posterior polar cataract" }, { - "baseId": "312525|318500|324613|325351", + "upstreamId": "312525|318500|324613|325351", "text": "Immunodeficiency due to defect in CD3-gamma" }, { - "baseId": "313257|313258|313262|313263|313264|313265|313267|313284|313288|313292|313293|313320|313322|319388|319395|319396|319397|319433|319434|319444|325510|325511|325512|325513|325514|325524|325525|325528|325532|325537|325538|325560|326474|326475|326478|326479|326489|326511|326517|326519|326520|326521|326533|326534|326536", + "upstreamId": "313257|313258|313262|313263|313264|313265|313267|313284|313288|313292|313293|313320|313322|319388|319395|319396|319397|319433|319434|319444|325510|325511|325512|325513|325514|325524|325525|325528|325532|325537|325538|325560|326474|326475|326478|326479|326489|326511|326517|326519|326520|326521|326533|326534|326536", "text": "Familial hyperaldosteronism" }, { - "baseId": "314218|326894", + "upstreamId": "314218|326894", "text": "Bone Mineral Density Variation" }, { - "baseId": "314295|620404", + "upstreamId": "314295|620404", "text": "RAPSN-Related Disorders" }, { - "baseId": "315888|326756|329110|330282|330295|332924|332948|332949|345361|345369|350041|350043|351077|353258", + "upstreamId": "315888|326756|329110|330282|330295|332924|332948|332949|345361|345369|350041|350043|351077|353258", "text": "Immunodeficiency with Hyper-IgM" }, { - "baseId": "316019|359749|502091|624988|625731|904869", + "upstreamId": "316019|359749|502091|624988|625731|904869", "text": "Hereditary sensory and autonomic neuropathy" }, { - "baseId": "316211|326236|335942|335963|335977|339979|341364|342287|353210|353211|353331|353353|353354", + "upstreamId": "316211|326236|335942|335963|335977|339979|341364|342287|353210|353211|353331|353353|353354", "text": "Hypertyrosinemia" }, { - "baseId": "316881|316885|316891|316892|316893|316907|316909|316910|324494|324495|324505|324508|324510|330622|330661|330662|330689|330692|332012|332023|332039|332046|332067|332072|332081|332087|332103", + "upstreamId": "316881|316885|316891|316892|316893|316907|316909|316910|324494|324495|324505|324508|324510|330622|330661|330662|330689|330692|332012|332023|332039|332046|332067|332072|332081|332087|332103", "text": "Lethal Encephalopathy" }, { - "baseId": "316885|316889|316907|316909|316910|324499|324508|324510|324513|324515|324518|329883|329891|330637|330661|330689|330692|330699|330703|332004|332011|332012|332022|332036|332039|332072|332081|332087|332103|332105|332112|979281|979282", + "upstreamId": "316885|316889|316907|316909|316910|324499|324508|324510|324513|324515|324518|329883|329891|330637|330661|330689|330692|330699|330703|332004|332011|332012|332022|332036|332039|332072|332081|332087|332103|332105|332112|979281|979282", "text": "Mitochondrial myopathy and sideroblastic anemia" }, { - "baseId": "316959|316978|317007|332182|332191|976511|976512|976513", + "upstreamId": "316959|316978|317007|332182|332191|976511|976512|976513", "text": "Congenital fibrosis of extraocular muscles" }, { - "baseId": "317085", + "upstreamId": "317085", "text": "Lethal congenital contracture syndrome" }, { - "baseId": "317102|317118|324857|324859|330949|332440|332445", + "upstreamId": "317102|317118|324857|324859|330949|332440|332445", "text": "Hypophosphatemic Rickets, Dominant" }, { - "baseId": "317187|317211|317213|317230|317238|324901|324908|324917|324919|324921|331044|331069|332566|332622|332628|333910", + "upstreamId": "317187|317211|317213|317230|317238|324901|324908|324917|324919|324921|331044|331069|332566|332622|332628|333910", "text": "Vitamin D-dependent rickets" }, { - "baseId": "317382|325213|325217|325219|325221|325228|325230|331430|331436|331437|331445|331447|331449|331459|332850|332851|702337|869920|869921|869922|869923|869924|869925|869926|869927|869928|869929|869930|872250", + "upstreamId": "317382|325213|325217|325219|325221|325228|325230|331430|331436|331437|331445|331447|331449|331459|332850|332851|702337|869920|869921|869922|869923|869924|869925|869926|869927|869928|869929|869930|872250", "text": "46,XY gonadal dysgenesis, complete, dhh-related" }, { - "baseId": "318010|333610", + "upstreamId": "318010|333610", "text": "Congenital Muscular Dystrophy, ITGA7-related" }, { - "baseId": "318132|318139|326142|332311|332318", + "upstreamId": "318132|318139|326142|332311|332318", "text": "Cutaneous Malignant Melanoma, Dominant" }, { - "baseId": "318243|318287|332506|332551|334108|334117|334155", + "upstreamId": "318243|318287|332506|332551|334108|334117|334155", "text": "Cystic Fibrosis-Like Syndrome" }, { - "baseId": "318243|332475|332506|334092|334094|334108|334117", + "upstreamId": "318243|332475|332506|334092|334094|334108|334117", "text": "Familial Periodic Fever" }, { - "baseId": "319018|980688", + "upstreamId": "319018|980688", "text": "Cerebral hemorrhage" }, { - "baseId": "320106|328644|328645|328703|335252|335280|337132", + "upstreamId": "320106|328644|328645|328703|335252|335280|337132", "text": "Omodysplasia" }, { - "baseId": "320172", + "upstreamId": "320172", "text": "17-Beta-Hydroxysteroid Dehydrogenase III Deficiency" }, { - "baseId": "320697|320704|320737|320738|320744|329501|329502|329507|329509|329581|329582|329583|329584|329585|329586|336094|336096|336097|336106|336109|336119|336131|336193|336200|336203|336206|338009|338016|338023|338038|338103|353303", + "upstreamId": "320697|320704|320737|320738|320744|329501|329502|329507|329509|329581|329582|329583|329584|329585|329586|336094|336096|336097|336106|336109|336119|336131|336193|336200|336203|336206|338009|338016|338023|338038|338103|353303", "text": "Syndromic Microphthalmia, Dominant" }, { - "baseId": "320697|329501|329502|336097|336106|338009|338016|338023|626230", + "upstreamId": "320697|329501|329502|336097|336106|338009|338016|338023|626230", "text": "BMP4-Related Syndromic Microphthalmia" }, { - "baseId": "320933", + "upstreamId": "320933", "text": "Complement component 4, partial deficiency of" }, { - "baseId": "321860", + "upstreamId": "321860", "text": "PI M(MALTON)" }, { - "baseId": "321870", + "upstreamId": "321870", "text": "NODAL-Related Disorders" }, { - "baseId": "322495|514090", + "upstreamId": "322495|514090", "text": "Generalized joint laxity" }, { - "baseId": "322495|360798|360810|514090|590084|679897|980658|980729", + "upstreamId": "322495|360798|360810|514090|590084|679897|980658|980729", "text": "Joint laxity" }, { - "baseId": "322981|322984|322997|332528|332537|339529|353321|497250", + "upstreamId": "322981|322984|322997|332528|332537|339529|353321|497250", "text": "Griscelli syndrome" }, { - "baseId": "323349|333028|339866|339884|341294|341295|353329", + "upstreamId": "323349|333028|339866|339884|341294|341295|353329", "text": "Syndromic Microphthalmia, Recessive" }, { - "baseId": "324711|340891|340904|342346", + "upstreamId": "324711|340891|340904|342346", "text": "Pulmonary Surfactant Metabolism Dysfunction, Recessive" }, { - "baseId": "324984|324988|324989|334651|338333", + "upstreamId": "324984|324988|324989|334651|338333", "text": "Common Variable Immune Deficiency, Recessive" }, { - "baseId": "325225", + "upstreamId": "325225", "text": "46,XY DSD/46,XY CGD" }, { - "baseId": "325767|343348", + "upstreamId": "325767|343348", "text": "Multicentric Osteolysis-Nodulosis-Arthropathy (MONA) Spectrum Disorders" }, { - "baseId": "327428|327448|337297|343549|343582", + "upstreamId": "327428|327448|337297|343549|343582", "text": "Spontaneous pneumothorax" }, { - "baseId": "327720|327729|327761|337488|337536|337541|343742|343758|343774|343783|343814|345211", + "upstreamId": "327720|327729|327761|337488|337536|337541|343742|343758|343774|343783|343814|345211", "text": "Lissencephaly/Subcortical Band Heterotopia" }, { - "baseId": "327759|857406", + "upstreamId": "327759|857406", "text": "Familial Isolated Pituitary Adenomas" }, { - "baseId": "328459|839161|977248", + "upstreamId": "328459|839161|977248", "text": "CTSC-Related Disorders" }, { - "baseId": "328660|328662|328672|328673|338624|338631|338649|338655|344704", + "upstreamId": "328660|328662|328672|328673|338624|338631|338649|338655|344704", "text": "Distal Renal Tubular Acidosis, Dominant" }, { - "baseId": "329067|329081|335687|337517", + "upstreamId": "329067|329081|335687|337517", "text": "Dyskeratosis Congenita, Dominant" }, { - "baseId": "329273|353209|496550", + "upstreamId": "329273|353209|496550", "text": "Brachyolmia" }, { - "baseId": "329365|339623|345381|346754|346763", + "upstreamId": "329365|339623|345381|346754|346763", "text": "Hyperkalemic Periodic Paralysis" }, { - "baseId": "330305|330313|340490|340495|340496|340501|340503|340539|346227|347517|347571|353461", + "upstreamId": "330305|330313|340490|340495|340496|340501|340503|340539|346227|347517|347571|353461", "text": "Hereditary Neuralgic Amyotrophy (HNA)" }, { - "baseId": "330328|330333", + "upstreamId": "330328|330333", "text": "Desbuquois syndrome" }, { - "baseId": "331088", + "upstreamId": "331088", "text": "peginterferon alfa-2b and ribavirin response - Efficacy" }, { - "baseId": "331143", + "upstreamId": "331143", "text": "PI KALSHEKER-POLLER" }, { - "baseId": "331477|331499|331556|341769|341794|341816|347117|347157|347167|347192|347225|347227|347244|348441|348448|348458|348479|348482", + "upstreamId": "331477|331499|331556|341769|341794|341816|347117|347157|347167|347192|347225|347227|347244|348441|348448|348458|348479|348482", "text": "Diarrhea with Microvillus Atrophy" }, { - "baseId": "332327|332344|342455|342499|347877|347891", + "upstreamId": "332327|332344|342455|342499|347877|347891", "text": "Dementia, Deafness, and Sensory Neuropathy" }, { - "baseId": "332817", + "upstreamId": "332817", "text": "SCID, autosomal recessive, T-negative/B-positive type" }, { - "baseId": "332857|343034|348373|348380|348386|348392|348394|349551", + "upstreamId": "332857|343034|348373|348380|348386|348392|348394|349551", "text": "Thyroid Hormonogenesis Defect" }, { - "baseId": "333242|333266|343342", + "upstreamId": "333242|333266|343342", "text": "Microcephaly, Cortical Malformations, and Intellectual Disability" }, { - "baseId": "333885", + "upstreamId": "333885", "text": "GJB6-related disorders" }, { - "baseId": "333967|979289", + "upstreamId": "333967|979289", "text": "Encephalomyopathy with respiratory failure and lactic acidosis" }, { - "baseId": "335228|335232|335240|335241|335253|345048|345060|345066|345068|349857|349860|349861|349868|349871|350884|410746|410747|426331|426332|446219|470335|470877|470879|471378|533486|533496|533535|533541|533542|534060|571183|572875|572878|575084|648610|648618|648619|648622|648625|716903|716904|716905|728596|728598|731336|742347|742348|757444|757446|757448|757451|757455|757456|760654|760660|760867|760880|760949|773067|773071|786355|788936|821304|848286|848287|848288|848289|848290|848291|848292|848293|848294|848295|848296|848297|848298|848299|848300|929153|929154|929155|929156|929157|929158|929159|929160|929161|929162|938937|938938|938939|951036|951037|951038|951039|951040|951041|958805|958806|958807|960938", + "upstreamId": "335228|335232|335240|335241|335253|345048|345060|345066|345068|349857|349860|349861|349868|349871|350884|410746|410747|426331|426332|446219|470335|470877|470879|471378|533486|533496|533535|533541|533542|534060|571183|572875|572878|575084|648610|648618|648619|648622|648625|716903|716904|716905|728596|728598|731336|742347|742348|757444|757446|757448|757451|757455|757456|760654|760660|760867|760880|760949|773067|773071|786355|788936|821304|848286|848287|848288|848289|848290|848291|848292|848293|848294|848295|848296|848297|848298|848299|848300|929153|929154|929155|929156|929157|929158|929159|929160|929161|929162|938937|938938|938939|951036|951037|951038|951039|951040|951041|958805|958806|958807|960938", "text": "Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency" }, { - "baseId": "335244|341681|343177|343201|343202|343224", + "upstreamId": "335244|341681|343177|343201|343202|343224", "text": "Trichoepithelioma, multiple familial, 2" }, { - "baseId": "335715|335743|335784|345489|345490|350105|965452", + "upstreamId": "335715|335743|335784|345489|345490|350105|965452", "text": "Periventricular Heterotopia" }, { - "baseId": "335916|335920|335922|335924|335925|345605|345618|345623|350170|350176|351213|351233|351234", + "upstreamId": "335916|335920|335922|335924|335925|345605|345618|345623|350170|350176|351213|351233|351234", "text": "Phosphoenolpyruvate carboxykinase (GTP) deficiency" }, { - "baseId": "335933|335979|336000|345642|345650|345651|345654|345735|345740|345745|345747|350179|350191|350195|350203|350220|351241|351252|351255|351273|351279", + "upstreamId": "335933|335979|336000|345642|345650|345651|345654|345735|345740|345745|345747|350179|350191|350195|350203|350220|351241|351252|351255|351273|351279", "text": "Spinal Muscular Atrophy, Dominant" }, { - "baseId": "336794|336807|336816|343033|343048|343069", + "upstreamId": "336794|336807|336816|343033|343048|343069", "text": "Malignant Melanoma Susceptibility" }, { - "baseId": "337275|337291|337313|337332|337335|337347|337353|337358|337359|337364|337365|337375|337378|337380|337385|337391|337399|337408|337411|337414|337420|337439|337442|337449|337462|346957|346979|346991|347001|347006|347008|347018|347027|347029|347035|347037|347047|347049|347058|347061|351009|351020|351022|351025|351034|351038|351041|351044|351047|351050|351051|351070|351074|351075|351078|351079|351084|351085|351088|351093|351096|351104|351105|351106|352010|352014|352040|352042|352043|352045|352046|352050|352054|352080|352081|352082|352084|352085|352086|352100|352101|352103|352109|352112|352116|352119|352120|352122|352126|352128|352131", + "upstreamId": "337275|337291|337313|337332|337335|337347|337353|337358|337359|337364|337365|337375|337378|337380|337385|337391|337399|337408|337411|337414|337420|337439|337442|337449|337462|346957|346979|346991|347001|347006|347008|347018|347027|347029|347035|347037|347047|347049|347058|347061|351009|351020|351022|351025|351034|351038|351041|351044|351047|351050|351051|351070|351074|351075|351078|351079|351084|351085|351088|351093|351096|351104|351105|351106|352010|352014|352040|352042|352043|352045|352046|352050|352054|352080|352081|352082|352084|352085|352086|352100|352101|352103|352109|352112|352116|352119|352120|352122|352126|352128|352131", "text": "Familial Candidiasis, Recessive" }, { - "baseId": "337612|337623|347191|351203", + "upstreamId": "337612|337623|347191|351203", "text": "Rhabdoid tumor" }, { - "baseId": "337801|337826|339798", + "upstreamId": "337801|337826|339798", "text": "Cutis Laxa, Dominant/Recessive" }, { - "baseId": "338143|338150|338155|338207|347776|347804|347825|347831|347864|351614|351621|351627|351632|351651|352569|352575|352578|352579|352582|352588|352589", + "upstreamId": "338143|338150|338155|338207|347776|347804|347825|347831|347864|351614|351621|351627|351632|351651|352569|352575|352578|352579|352582|352588|352589", "text": "Nephronophthisis-Like Nephropathy" }, { - "baseId": "338350|338355|338358|338365|338370|338371|338373|338376|338385|338395|338396|338412|338414|348012|348013|348016|348018|348021|348022|348023|348024|348026|348027|348031|348034|348035|348039|351746|351748|351749|351752|351753|351756|351757|351760|352625|352626|352627|352628|352629|352630|352632|620692|620693|620694|891389|891390|891391|891392|891393|891394|891395|891396|891397|891398|891399|891400|891401|891402|891403|891404|891405|891406|891407|891408|891409|891410|891411|891412|891413|891414|891415|891416|891417|891418|891419|891420|891845|891846|891847|891848|891849", + "upstreamId": "338350|338355|338358|338365|338370|338371|338373|338376|338385|338395|338396|338412|338414|348012|348013|348016|348018|348021|348022|348023|348024|348026|348027|348031|348034|348035|348039|351746|351748|351749|351752|351753|351756|351757|351760|352625|352626|352627|352628|352629|352630|352632|620692|620693|620694|891389|891390|891391|891392|891393|891394|891395|891396|891397|891398|891399|891400|891401|891402|891403|891404|891405|891406|891407|891408|891409|891410|891411|891412|891413|891414|891415|891416|891417|891418|891419|891420|891845|891846|891847|891848|891849", "text": "Fatty liver disease, nonalcoholic 1" }, { - "baseId": "338402|338413|348038|352631", + "upstreamId": "338402|338413|348038|352631", "text": "Susceptibility to Nonalcoholic Fatty Liver Disease" }, { - "baseId": "338589|338594|344649|346069|346070", + "upstreamId": "338589|338594|344649|346069|346070", "text": "Sclerosing Bone Dysplasias" }, { - "baseId": "338845", + "upstreamId": "338845", "text": "Infantile Nystagmus" }, { - "baseId": "339355", + "upstreamId": "339355", "text": "anastrozole response - Efficacy" }, { - "baseId": "339355", + "upstreamId": "339355", "text": "docetaxel response - Efficacy" }, { - "baseId": "339355", + "upstreamId": "339355", "text": "doxorubicin response - Efficacy" }, { - "baseId": "339355", + "upstreamId": "339355", "text": "epirubicin response - Efficacy" }, { - "baseId": "339355", + "upstreamId": "339355", "text": "exemestane response - Efficacy" }, { - "baseId": "339355|362508", + "upstreamId": "339355|362508", "text": "fluorouracil response - Efficacy" }, { - "baseId": "339355", + "upstreamId": "339355", "text": "paclitaxel response - Efficacy" }, { - "baseId": "339355", + "upstreamId": "339355", "text": "radiotherapy response - Efficacy" }, { - "baseId": "339355", + "upstreamId": "339355", "text": "tamoxifen response - Efficacy" }, { - "baseId": "339387|339397|348906|348909|348910|348911|348930|348946|348951|348952|348957|352293|352295|352298|352316|352333|352901|352904|352908|352910|352914|353867", + "upstreamId": "339387|339397|348906|348909|348910|348911|348930|348946|348951|348952|348957|352293|352295|352298|352316|352333|352901|352904|352908|352910|352914|353867", "text": "Dent's disease" }, { - "baseId": "341304", + "upstreamId": "341304", "text": "Congenital Adrenal Insufficiency" }, { - "baseId": "342540|434354|434355|434356|434357|434358", + "upstreamId": "342540|434354|434355|434356|434357|434358", "text": "Virus-induced diabetes" }, { - "baseId": "343296|343312|977282", + "upstreamId": "343296|343312|977282", "text": "MYH3-Related Disorders" }, { - "baseId": "345130|345148|349903", + "upstreamId": "345130|345148|349903", "text": "Hypermethioninemia" }, { - "baseId": "345502", + "upstreamId": "345502", "text": "SALL4-Related Spectrum Disorders" }, { - "baseId": "345546|350137|351180|351185|353585|353586", + "upstreamId": "345546|350137|351180|351185|353585|353586", "text": "Infantile hypercalcemia" }, { - "baseId": "346659|620617", + "upstreamId": "346659|620617", "text": "RBBP8-Related Disorders" }, { - "baseId": "348554|352096|352097|352779|353863", + "upstreamId": "348554|352096|352097|352779|353863", "text": "Hemophilia B, Factor IX Deficiency" }, { - "baseId": "348736|352229", + "upstreamId": "348736|352229", "text": "Congenital stationary night blindness, X-linked" }, { - "baseId": "349148", + "upstreamId": "349148", "text": "Disease Association NOS" }, { - "baseId": "350521", + "upstreamId": "350521", "text": "APP POLYMORPHISM" }, { - "baseId": "351934|351943", + "upstreamId": "351934|351943", "text": "Charcot-Marie-Tooth, X-linked" }, { - "baseId": "351934|351943|352966", + "upstreamId": "351934|351943|352966", "text": "Nonsyndromic Hearing Loss, X-Linked" }, { - "baseId": "352164", + "upstreamId": "352164", "text": "Hemophilia A, FVIII Deficiency" }, { - "baseId": "352627", + "upstreamId": "352627", "text": "asparaginase response - Toxicity/ADR" }, { - "baseId": "352627", + "upstreamId": "352627", "text": "daunorubicin response - Toxicity/ADR" }, { - "baseId": "352627", + "upstreamId": "352627", "text": "prednisolone response - Toxicity/ADR" }, { - "baseId": "352627|538600", + "upstreamId": "352627|538600", "text": "vincristine response - Toxicity/ADR" }, { - "baseId": "353518", + "upstreamId": "353518", "text": "Cortical pulverulent cataract" }, { - "baseId": "353745", + "upstreamId": "353745", "text": "C2-related disorders" }, { - "baseId": "353824", + "upstreamId": "353824", "text": "Birk-Barel Intellectual Disability Dysmorphism Syndrome" }, { - "baseId": "353955|353956|353957", + "upstreamId": "353955|353956|353957", "text": "Autosomal recessive severe congenital neutropenia" }, { - "baseId": "353955|353956|353957|792807", + "upstreamId": "353955|353956|353957|792807", "text": "Specific granule deficiency 2" }, { - "baseId": "353998", + "upstreamId": "353998", "text": "Epilepsy, benign neonatal, 1, and/or myokymia" }, { - "baseId": "354197|354272", + "upstreamId": "354197|354272", "text": "Fontaine progeroid syndrome" }, { - "baseId": "354199|354200|354201|354202|354203|354204|354205|354206|354207", + "upstreamId": "354199|354200|354201|354202|354203|354204|354205|354206|354207", "text": "Thyroid hemiagenesis" }, { - "baseId": "354281", + "upstreamId": "354281", "text": "Pulmonary atresia with intact ventricular septum" }, { - "baseId": "354286|354287|354288", + "upstreamId": "354286|354287|354288", "text": "Congenital cardiomyopathy" }, { - "baseId": "354289|354291", + "upstreamId": "354289|354291", "text": "Mitochondrial cytopathy" }, { - "baseId": "354290", + "upstreamId": "354290", "text": "Mild liver congestion" }, { - "baseId": "354290|514125", + "upstreamId": "354290|514125", "text": "Episodic vomiting" }, { - "baseId": "354292", + "upstreamId": "354292", "text": "Bilateral lesions of basal ganglia" }, { - "baseId": "354294", + "upstreamId": "354294", "text": "Parkinsonism-plus" }, { - "baseId": "354294", + "upstreamId": "354294", "text": "Atrophy of the brain and cerebellum" }, { - "baseId": "354296|354297", + "upstreamId": "354296|354297", "text": "Hyperlactaemia" }, { - "baseId": "354296|354297|446889", + "upstreamId": "354296|354297|446889", "text": "Muscular hypotonia of the trunk" }, { - "baseId": "354297", + "upstreamId": "354297", "text": "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, MITOCHONDRIAL FORM, 1" }, { - "baseId": "354298", + "upstreamId": "354298", "text": "Hepatitis" }, { - "baseId": "354298", + "upstreamId": "354298", "text": "Hepatic steatosis" }, { - "baseId": "354298", + "upstreamId": "354298", "text": "Fibrosis" }, { - "baseId": "359035|461414|461426|461588|461590|461930|462253|462256|526456|526463|526747|526989|526993|564867|567480|567485|640391|650389|784160|820412|838917|838918|838919|838920|838921|838922|851459|920301|926369|935755|935756|956638|956639|960011", + "upstreamId": "359035|461414|461426|461588|461590|461930|462253|462256|526456|526463|526747|526989|526993|564867|567480|567485|640391|650389|784160|820412|838917|838918|838919|838920|838921|838922|851459|920301|926369|935755|935756|956638|956639|960011", "text": "Epilepsy, familial temporal lobe, 8" }, { - "baseId": "359044|513451|905063", + "upstreamId": "359044|513451|905063", "text": "Fanconi anemia, complementation group R" }, { - "baseId": "359045|359046", + "upstreamId": "359045|359046", "text": "Osteogenesis imperfecta, type xvii" }, { - "baseId": "359052|513389", + "upstreamId": "359052|513389", "text": "Syndromic X-linked intellectual disability Shashi type" }, { - "baseId": "359054|677062", + "upstreamId": "359054|677062", "text": "Mitochondrial complex 1 deficiency, nuclear type 30" }, { - "baseId": "359059|359060|792487|971225", + "upstreamId": "359059|359060|792487|971225", "text": "Immunodeficiency 50" }, { - "baseId": "359064|359065", + "upstreamId": "359064|359065", "text": "Myasthenic syndrome, congenital, 21, presynaptic" }, { - "baseId": "359066|359067|359068|792703", + "upstreamId": "359066|359067|359068|792703", "text": "Structural brain anomalies with impaired intellectual development and craniosynostosis" }, { - "baseId": "359069|969279", + "upstreamId": "359069|969279", "text": "Craniosynostosis 6" }, { - "baseId": "359070|359071|359072", + "upstreamId": "359070|359071|359072", "text": "Myopia 25, autosomal dominant" }, { - "baseId": "359074|359075", + "upstreamId": "359074|359075", "text": "Cataract 34, multiple types" }, { - "baseId": "359101", + "upstreamId": "359101", "text": "Fanconi anemia, complementation group V" }, { - "baseId": "359102|359103|359104", + "upstreamId": "359102|359103|359104", "text": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2" }, { - "baseId": "359105|359106|513240", + "upstreamId": "359105|359106|513240", "text": "Encephalopathy, progressive, with amyotrophy and optic atrophy" }, { - "baseId": "359107|359108", + "upstreamId": "359107|359108", "text": "Sedoheptulokinase deficiency" }, { - "baseId": "359114|359115|359116|359117|961759", + "upstreamId": "359114|359115|359116|359117|961759", "text": "3-methylglutaconic aciduria, type VIII" }, { - "baseId": "359123", + "upstreamId": "359123", "text": "Mental retardation, autosomal recessive 50" }, { - "baseId": "359125|359126|359127|359128|359129|359130|359132|611602|861671", + "upstreamId": "359125|359126|359127|359128|359129|359130|359132|611602|861671", "text": "Sudden cardiac failure, infantile" }, { - "baseId": "359127|359131", + "upstreamId": "359127|359131", "text": "Sudden cardiac failure, alcohol-induced" }, { - "baseId": "359133|359134|359135|359136|359137", + "upstreamId": "359133|359134|359135|359136|359137", "text": "Preimplantation embryonic lethality 2" }, { - "baseId": "359138|359139|359140|363787|626058|858659", + "upstreamId": "359138|359139|359140|363787|626058|858659", "text": "Al-Raqad syndrome" }, { - "baseId": "359142|359143|359144|359145|359146|359147|361796|361797|361798|361799|406472|421504|453638|453654|453659|453660|453662|453904|453906|454077|454078|454451|454453|454461|454465|454466|481467|520315|520552|520558|520560|520563|520564|520597|520610|520616|520619|520623|538983|550114|559823|559845|559847|559849|559851|559968|562305|562306|562308|564122|564123|564131|564133|564138|564142|632539|632540|632541|632542|632543|632544|632545|632546|632547|632548|632549|632550|632551|632552|651270|651284|651285|651298|651302|691642|695249|698720|734796|749126|764674|790488|829564|829565|829566|829567|829568|829569|829570|829571|829572|829573|829574|829575|829576|829577|829578|829579|904450|923626|932486|932487|932488|932489|932490|939758|939974|944157|944158|944159|953875|953876|953877|953878|960544", + "upstreamId": "359142|359143|359144|359145|359146|359147|361796|361797|361798|361799|406472|421504|453638|453654|453659|453660|453662|453904|453906|454077|454078|454451|454453|454461|454465|454466|481467|520315|520552|520558|520560|520563|520564|520597|520610|520616|520619|520623|538983|550114|559823|559845|559847|559849|559851|559968|562305|562306|562308|564122|564123|564131|564133|564138|564142|632539|632540|632541|632542|632543|632544|632545|632546|632547|632548|632549|632550|632551|632552|651270|651284|651285|651298|651302|691642|695249|698720|734796|749126|764674|790488|829564|829565|829566|829567|829568|829569|829570|829571|829572|829573|829574|829575|829576|829577|829578|829579|904450|923626|932486|932487|932488|932489|932490|939758|939974|944157|944158|944159|953875|953876|953877|953878|960544", "text": "Neuropathy, hereditary motor and sensory, type 6B" }, { - "baseId": "359148|359149|359150|452804|452816|453164|453165|453168|453178|453206|453208|453216|453217|453578|453580|453581|519617|519619|519629|519630|519633|519639|519644|519670|519672|519906|519908|519910|519911|519913|519915|519916|519917|519918|519920|519923|519927|559539|559541|559688|559690|559692|559694|561835|563326|612666|631816|631817|631818|631819|631820|631821|631822|631823|631824|631825|631826|631827|631828|631829|631830|631831|631832|631833|631834|631835|631836|631837|631838|631839|651094|651136|698312|698313|709076|709077|709079|709080|709081|709082|709083|720672|720673|720674|720675|720676|734335|734336|748576|748578|748580|764203|764206|764208|764211|790425|819428|828609|828610|828611|828612|828613|828614|828615|828616|828617|828618|828619|828620|828621|828622|828623|828624|828625|851104|851477|923370|923371|923372|923373|932098|932099|932100|932101|932102|932103|932104|932105|940767|940768|940769|943721|943722|943723|943724|943725|943726|943727|943728|943729|943730|953604|953605|953606|953607|953608|953609|959709|960525", + "upstreamId": "359148|359149|359150|452804|452816|453164|453165|453168|453178|453206|453208|453216|453217|453578|453580|453581|519617|519619|519629|519630|519633|519639|519644|519670|519672|519906|519908|519910|519911|519913|519915|519916|519917|519918|519920|519923|519927|559539|559541|559688|559690|559692|559694|561835|563326|612666|631816|631817|631818|631819|631820|631821|631822|631823|631824|631825|631826|631827|631828|631829|631830|631831|631832|631833|631834|631835|631836|631837|631838|631839|651094|651136|698312|698313|709076|709077|709079|709080|709081|709082|709083|720672|720673|720674|720675|720676|734335|734336|748576|748578|748580|764203|764206|764208|764211|790425|819428|828609|828610|828611|828612|828613|828614|828615|828616|828617|828618|828619|828620|828621|828622|828623|828624|828625|851104|851477|923370|923371|923372|923373|932098|932099|932100|932101|932102|932103|932104|932105|940767|940768|940769|943721|943722|943723|943724|943725|943726|943727|943728|943729|943730|953604|953605|953606|953607|953608|953609|959709|960525", "text": "Candidiasis, familial, 9" }, { - "baseId": "359151|359152|359153|679842|679843|679844", + "upstreamId": "359151|359152|359153|679842|679843|679844", "text": "Combined oxidative phosphorylation deficiency 26" }, { - "baseId": "359165|359166|359167|404745|513191", + "upstreamId": "359165|359166|359167|404745|513191", "text": "Primary autosomal recessive microcephaly 15" }, { - "baseId": "359168", + "upstreamId": "359168", "text": "Muscular dystrophy, limb-girdle, type 2z" }, { - "baseId": "359174|359175|359176|359177|359178|359179|359180|552398|919240", + "upstreamId": "359174|359175|359176|359177|359178|359179|359180|552398|919240", "text": "Cone-rod dystrophy and hearing loss 1" }, { - "baseId": "359181|359182|359183|359184|359185", + "upstreamId": "359181|359182|359183|359184|359185", "text": "Lissencephaly 8" }, { - "baseId": "359186|359187|359188|359189|359190|622409", + "upstreamId": "359186|359187|359188|359189|359190|622409", "text": "Myopathy, myofibrillar, 8" }, { - "baseId": "359191|359192|802256", + "upstreamId": "359191|359192|802256", "text": "Ventricular tachycardia, catecholaminergic polymorphic, 3" }, { - "baseId": "359193|359194", + "upstreamId": "359193|359194", "text": "Seckel syndrome 10" }, { - "baseId": "359214|361127", + "upstreamId": "359214|361127", "text": "dysmorphy" }, { - "baseId": "359518|620158", + "upstreamId": "359518|620158", "text": "PROM1-Related Disorders" }, { - "baseId": "359552|360867", + "upstreamId": "359552|360867", "text": "Erythroderma" }, { - "baseId": "359708|551483", + "upstreamId": "359708|551483", "text": "Mungan syndrome" }, { - "baseId": "359762", + "upstreamId": "359762", "text": "Rectal prolapse" }, { - "baseId": "359762", + "upstreamId": "359762", "text": "Stress urinary incontinence" }, { - "baseId": "359762|485953", + "upstreamId": "359762|485953", "text": "Secundum atrial septal defect" }, { - "baseId": "359788", + "upstreamId": "359788", "text": "BRAT1-associated neurodegenerative disorder" }, { - "baseId": "359832|407888|411619", + "upstreamId": "359832|407888|411619", "text": "Retinitis pigmentosa 79" }, { - "baseId": "359832|407887|407888|590982|903568", + "upstreamId": "359832|407887|407888|590982|903568", "text": "Neurodevelopmental disorder with visual defects and brain anomalies" }, { - "baseId": "359990|590707|590708|610626|610627|623108|623109|623110|791144|917770|917778|974494", + "upstreamId": "359990|590707|590708|610626|610627|623108|623109|623110|791144|917770|917778|974494", "text": "Cardiac-urogenital syndrome" }, { - "baseId": "360150|919607", + "upstreamId": "360150|919607", "text": "Hypopigmentation, organomegaly, and delayed myelination and development" }, { - "baseId": "360260|424588|424590|424592|424594|424595|677059|678074|788914|816529|903623|919764|919765|920380|961338|964922", + "upstreamId": "360260|424588|424590|424592|424594|424595|677059|678074|788914|816529|903623|919764|919765|920380|961338|964922", "text": "Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies" }, { - "baseId": "360454|420010|420017", + "upstreamId": "360454|420010|420017", "text": "Retinal dystrophy with or without macular staphyloma" }, { - "baseId": "360576|434678|495875", + "upstreamId": "360576|434678|495875", "text": "PIGT-related disorder" }, { - "baseId": "360579", + "upstreamId": "360579", "text": "CSNK2A1- Related Disorders" }, { - "baseId": "360798|360810|360916|361025", + "upstreamId": "360798|360810|360916|361025", "text": "Pain" }, { - "baseId": "360799", + "upstreamId": "360799", "text": "Vitiligo" }, { - "baseId": "360799", + "upstreamId": "360799", "text": "EMG: axonal abnormality" }, { - "baseId": "360805", + "upstreamId": "360805", "text": "Abdominal colic" }, { - "baseId": "360806|800787", + "upstreamId": "360806|800787", "text": "EMG: neuropathic changes" }, { - "baseId": "360806", + "upstreamId": "360806", "text": "Limb muscle weakness" }, { - "baseId": "360807|361005|445123|590074|590075|679509|679510|679511|679512|679513", + "upstreamId": "360807|361005|445123|590074|590075|679509|679510|679511|679512|679513", "text": "Respiratory distress" }, { - "baseId": "360809|360926", + "upstreamId": "360809|360926", "text": "Fever" }, { - "baseId": "360809|590545|619855|966700", + "upstreamId": "360809|590545|619855|966700", "text": "Pleural effusion" }, { - "baseId": "360809|619855", + "upstreamId": "360809|619855", "text": "Pericardial effusion" }, { - "baseId": "360812|360997|568036|581714|801191", + "upstreamId": "360812|360997|568036|581714|801191", "text": "Myoclonus" }, { - "baseId": "360814|439633|439634|439635|514075", + "upstreamId": "360814|439633|439634|439635|514075", "text": "Abnormality of vision" }, { - "baseId": "360814", + "upstreamId": "360814", "text": "Congenital blindness" }, { - "baseId": "360815|360816|445093|610529|610563|610564|610565", + "upstreamId": "360815|360816|445093|610529|610563|610564|610565", "text": "Retinopathy" }, { - "baseId": "360823|360824", + "upstreamId": "360823|360824", "text": "Pain insensitivity" }, { - "baseId": "360825", + "upstreamId": "360825", "text": "Abnormal liver function tests during pregnancy" }, { - "baseId": "360825", + "upstreamId": "360825", "text": "Intrahepatic Cholestasis" }, { - "baseId": "360825", + "upstreamId": "360825", "text": "Pruritus" }, { - "baseId": "360826", + "upstreamId": "360826", "text": "Prolactin-producing pituitary gland adenoma" }, { - "baseId": "360835", + "upstreamId": "360835", "text": "Stiff skin" }, { - "baseId": "360835|513930", + "upstreamId": "360835|513930", "text": "Arthralgia" }, { - "baseId": "360837|360838|481389", + "upstreamId": "360837|360838|481389", "text": "Breathing dysregulation" }, { - "baseId": "360839", + "upstreamId": "360839", "text": "Clonus" }, { - "baseId": "360839", + "upstreamId": "360839", "text": "Lower limb hyperreflexia" }, { - "baseId": "360843|362226|539978|801192", + "upstreamId": "360843|362226|539978|801192", "text": "Generalized dystonia" }, { - "baseId": "360845", + "upstreamId": "360845", "text": "Hypercalcemia" }, { - "baseId": "360845", + "upstreamId": "360845", "text": "Hypocalciuria" }, { - "baseId": "360850|361041|514221", + "upstreamId": "360850|361041|514221", "text": "Facial asymmetry" }, { - "baseId": "360850|361700|362583|513992|536162|619940", + "upstreamId": "360850|361700|362583|513992|536162|619940", "text": "Hemimegalencephaly" }, { - "baseId": "360852|360853", + "upstreamId": "360852|360853", "text": "Toe syndactyly" }, { - "baseId": "360852|360853", + "upstreamId": "360852|360853", "text": "Finger syndactyly" }, { - "baseId": "360854", + "upstreamId": "360854", "text": "Abnormality of the thyroid gland" }, { - "baseId": "360857", + "upstreamId": "360857", "text": "Anterior creases of earlobe" }, { - "baseId": "360857", + "upstreamId": "360857", "text": "Glabellar hemangioma" }, { - "baseId": "360863", + "upstreamId": "360863", "text": "Elevated systolic blood pressure" }, { - "baseId": "360863", + "upstreamId": "360863", "text": "Elevated diastolic blood pressure" }, { - "baseId": "360871", + "upstreamId": "360871", "text": "Cutaneous finger syndactyly" }, { - "baseId": "360871", + "upstreamId": "360871", "text": "Bilateral microphthalmos" }, { - "baseId": "360871", + "upstreamId": "360871", "text": "Anteverted nares" }, { - "baseId": "360874", + "upstreamId": "360874", "text": "Nail dysplasia" }, { - "baseId": "360874|360928", + "upstreamId": "360874|360928", "text": "Hypertrichosis" }, { - "baseId": "360877", + "upstreamId": "360877", "text": "Preauricular skin tag" }, { - "baseId": "360879", + "upstreamId": "360879", "text": "Opacification of the corneal stroma" }, { - "baseId": "360879", + "upstreamId": "360879", "text": "Bifid nasal tip" }, { - "baseId": "360879", + "upstreamId": "360879", "text": "Upslanted palpebral fissure" }, { - "baseId": "360882", + "upstreamId": "360882", "text": "EMG: myotonic runs" }, { - "baseId": "360884|513212", + "upstreamId": "360884|513212", "text": "Female infertility" }, { - "baseId": "360884", + "upstreamId": "360884", "text": "Abnormality of the ovary" }, { - "baseId": "360893|452274|513974|513975", + "upstreamId": "360893|452274|513974|513975", "text": "Cavernous hemangioma" }, { - "baseId": "360896", + "upstreamId": "360896", "text": "Multiple prenatal fractures" }, { - "baseId": "360897", + "upstreamId": "360897", "text": "Pear-shaped nose" }, { - "baseId": "360897", + "upstreamId": "360897", "text": "Proportionate short stature" }, { - "baseId": "360897|514155", + "upstreamId": "360897|514155", "text": "Alopecia areata" }, { - "baseId": "360904|360905|360937|361107", + "upstreamId": "360904|360905|360937|361107", "text": "Ocular albinism" }, { - "baseId": "360906", + "upstreamId": "360906", "text": "Poor speech" }, { - "baseId": "360906|360970|360971|513914|921240", + "upstreamId": "360906|360970|360971|513914|921240", "text": "Gait disturbance" }, { - "baseId": "360908", + "upstreamId": "360908", "text": "Adenoma sebaceum" }, { - "baseId": "360913|360914", + "upstreamId": "360913|360914", "text": "Trident hand" }, { - "baseId": "360916", + "upstreamId": "360916", "text": "Abnormality of the choroid" }, { - "baseId": "360916", + "upstreamId": "360916", "text": "Visual field defect" }, { - "baseId": "360921", + "upstreamId": "360921", "text": "Aplasia/Hypoplasia of the phalanges of the hand" }, { - "baseId": "360921|513889", + "upstreamId": "360921|513889", "text": "Palpitations" }, { - "baseId": "360921", + "upstreamId": "360921", "text": "Hand oligodactyly" }, { - "baseId": "360921", + "upstreamId": "360921", "text": "Aplasia/Hypoplasia involving the metacarpal bones" }, { - "baseId": "360922|514126", + "upstreamId": "360922|514126", "text": "Arterial tortuosity" }, { - "baseId": "360922", + "upstreamId": "360922", "text": "Aneurysm of descending aorta" }, { - "baseId": "360925", + "upstreamId": "360925", "text": "Conjunctival telangiectasia" }, { - "baseId": "360925|514103|971546", + "upstreamId": "360925|514103|971546", "text": "Oculomotor apraxia" }, { - "baseId": "360926|360927", + "upstreamId": "360926|360927", "text": "Abdominal pain" }, { - "baseId": "360926", + "upstreamId": "360926", "text": "Vomiting" }, { - "baseId": "360926", + "upstreamId": "360926", "text": "Mood changes" }, { - "baseId": "360927", + "upstreamId": "360927", "text": "Elevated urinary delta-aminolevulinic acid" }, { - "baseId": "360927|800788|971289", + "upstreamId": "360927|800788|971289", "text": "Anxiety" }, { - "baseId": "360933|360934|360953|361106", + "upstreamId": "360933|360934|360953|361106", "text": "Hammertoe" }, { - "baseId": "360933|360934|463431|514133|610581|610592", + "upstreamId": "360933|360934|463431|514133|610581|610592", "text": "Progressive muscle weakness" }, { - "baseId": "360939", + "upstreamId": "360939", "text": "Long fingers" }, { - "baseId": "360939", + "upstreamId": "360939", "text": "Astigmatism" }, { - "baseId": "360941", + "upstreamId": "360941", "text": "Aplasia/Hypoplasia of the nails" }, { - "baseId": "360944", + "upstreamId": "360944", "text": "Disproportionate short-limb short stature" }, { - "baseId": "360945|514005|966716|966717", + "upstreamId": "360945|514005|966716|966717", "text": "Short ribs" }, { - "baseId": "360945", + "upstreamId": "360945", "text": "Absent vertebral body mineralization" }, { - "baseId": "360952", + "upstreamId": "360952", "text": "Kayser-Fleischer ring" }, { - "baseId": "360952|512868|513906|513959|513983|514053|514111", + "upstreamId": "360952|512868|513906|513959|513983|514053|514111", "text": "Hand tremor" }, { - "baseId": "360970|360971", + "upstreamId": "360970|360971", "text": "Generalized hyperreflexia" }, { - "baseId": "360973|679854", + "upstreamId": "360973|679854", "text": "Ascending aortic dissection" }, { - "baseId": "360977", + "upstreamId": "360977", "text": "Pectus carinatum" }, { - "baseId": "360979|360984|485953", + "upstreamId": "360979|360984|485953", "text": "Mitral regurgitation" }, { - "baseId": "360984", + "upstreamId": "360984", "text": "Abnormal morphology of the left ventricle" }, { - "baseId": "360986", + "upstreamId": "360986", "text": "Dental enamel pits" }, { - "baseId": "360988", + "upstreamId": "360988", "text": "Renovascular hypertension" }, { - "baseId": "360988|360995|514057", + "upstreamId": "360988|360995|514057", "text": "Hepatic cysts" }, { - "baseId": "360991", + "upstreamId": "360991", "text": "Moderate sensorineural hearing impairment" }, { - "baseId": "360991", + "upstreamId": "360991", "text": "3-4 toe syndactyly" }, { - "baseId": "360992", + "upstreamId": "360992", "text": "Abnormality of the kidney" }, { - "baseId": "360995", + "upstreamId": "360995", "text": "Dilatation of the cerebral artery" }, { - "baseId": "360999|361071", + "upstreamId": "360999|361071", "text": "Thumb deformity (disease)" }, { - "baseId": "361003", + "upstreamId": "361003", "text": "Fetal megacystis" }, { - "baseId": "361003", + "upstreamId": "361003", "text": "Urethral atresia" }, { - "baseId": "361005", + "upstreamId": "361005", "text": "Tongue fasciculations" }, { - "baseId": "361010|514081", + "upstreamId": "361010|514081", "text": "Inguinal freckling" }, { - "baseId": "361013", + "upstreamId": "361013", "text": "Plexiform neurofibroma" }, { - "baseId": "361021", + "upstreamId": "361021", "text": "Peripheral pulmonary artery stenosis" }, { - "baseId": "361022|590093", + "upstreamId": "361022|590093", "text": "Osteopenia" }, { - "baseId": "361022|485950", + "upstreamId": "361022|485950", "text": "Blue sclerae" }, { - "baseId": "361022|966164|966165", + "upstreamId": "361022|966164|966165", "text": "Increased susceptibility to fractures" }, { - "baseId": "361024", + "upstreamId": "361024", "text": "Handgrip myotonia" }, { - "baseId": "361025|513969", + "upstreamId": "361025|513969", "text": "EMG: myotonic discharges" }, { - "baseId": "361034", + "upstreamId": "361034", "text": "Diffuse palmoplantar hyperkeratosis" }, { - "baseId": "361035|513911|513913|513956|964259|976826", + "upstreamId": "361035|513911|513913|513956|964259|976826", "text": "Noncompaction cardiomyopathy" }, { - "baseId": "361036", + "upstreamId": "361036", "text": "Cerebral hypoplasia" }, { - "baseId": "361041", + "upstreamId": "361041", "text": "Single transverse palmar crease" }, { - "baseId": "361042", + "upstreamId": "361042", "text": "Intestinal polyposis" }, { - "baseId": "361042", + "upstreamId": "361042", "text": "Periorbital hyperpigmentation" }, { - "baseId": "361043|679897", + "upstreamId": "361043|679897", "text": "Intention tremor" }, { - "baseId": "361047|513943", + "upstreamId": "361047|513943", "text": "Mildly elevated creatine phosphokinase" }, { - "baseId": "361051", + "upstreamId": "361051", "text": "Proximal amyotrophy" }, { - "baseId": "361068", + "upstreamId": "361068", "text": "Progressive neurodegenerative disease" }, { - "baseId": "361070|513926", + "upstreamId": "361070|513926", "text": "Fatigue" }, { - "baseId": "361070", + "upstreamId": "361070", "text": "Hyperextensible hand joints" }, { - "baseId": "361071", + "upstreamId": "361071", "text": "Facial grimacing" }, { - "baseId": "361072|610493|610494|919955|920428|920429|962058", + "upstreamId": "361072|610493|610494|919955|920428|920429|962058", "text": "Menke-Hennekam syndrome 2" }, { - "baseId": "361073|361074|361075|361076", + "upstreamId": "361073|361074|361075|361076", "text": "Central hypoventilation" }, { - "baseId": "361073|361074|361075|361076|535380", + "upstreamId": "361073|361074|361075|361076|535380", "text": "Progressive microcephaly" }, { - "baseId": "361079|589814|682784|682786|682787|920435", + "upstreamId": "361079|589814|682784|682786|682787|920435", "text": "Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy" }, { - "baseId": "361080|920586", + "upstreamId": "361080|920586", "text": "Pes planus" }, { - "baseId": "361080|513931|514154", + "upstreamId": "361080|513931|514154", "text": "Foot dorsiflexor weakness" }, { - "baseId": "361085", + "upstreamId": "361085", "text": "Decreased glucosephosphate isomerase activity" }, { - "baseId": "361090", + "upstreamId": "361090", "text": "Bowing of the legs" }, { - "baseId": "361090", + "upstreamId": "361090", "text": "Lower limb pain" }, { - "baseId": "361090|496345", + "upstreamId": "361090|496345", "text": "Hypophosphatemic rickets" }, { - "baseId": "361092", + "upstreamId": "361092", "text": "Proptosis" }, { - "baseId": "361097", + "upstreamId": "361097", "text": "Short lingual frenulum" }, { - "baseId": "361097", + "upstreamId": "361097", "text": "Persistent hyperplastic primary vitreous" }, { - "baseId": "361106|513931", + "upstreamId": "361106|513931", "text": "Peroneal muscle atrophy" }, { - "baseId": "361107", + "upstreamId": "361107", "text": "Poor eye contact" }, { - "baseId": "361109|361110", + "upstreamId": "361109|361110", "text": "Focal white matter lesions" }, { - "baseId": "361115|361116", + "upstreamId": "361115|361116", "text": "Leber plus disease" }, { - "baseId": "361122", + "upstreamId": "361122", "text": "KLF7-related disorder" }, { - "baseId": "361129", + "upstreamId": "361129", "text": "Pierre Robin-like syndrome" }, { - "baseId": "361137", + "upstreamId": "361137", "text": "Retinal dysplasia" }, { - "baseId": "361139|361147", + "upstreamId": "361139|361147", "text": "Language retardation" }, { - "baseId": "361144|540566|540567|540568|540569|624068|626241|779813|791477|798688|920541|971024", + "upstreamId": "361144|540566|540567|540568|540569|624068|626241|779813|791477|798688|920541|971024", "text": "Intellectual developmental disorder with or without epilepsy or cerebellar ataxia" }, { - "baseId": "361145", + "upstreamId": "361145", "text": "Moderate intellectual deficiency" }, { - "baseId": "361237|497803|512523|514782|535277|535278|538269|538273|590340|623357|679936|789399|793863|861600|903681|903689|974884|983615|983630|983631|983632|983633|983634|983635|983636|983637|983638|983639|983640|983641|983642", + "upstreamId": "361237|497803|512523|514782|535277|535278|538269|538273|590340|623357|679936|789399|793863|861600|903681|903689|974884|983615|983630|983631|983632|983633|983634|983635|983636|983637|983638|983639|983640|983641|983642", "text": "Waardenburg syndrome type 2E" }, { - "baseId": "361323", + "upstreamId": "361323", "text": "Subependymal giant-cell astrocytoma" }, { - "baseId": "361335|434702|445216|791396", + "upstreamId": "361335|434702|445216|791396", "text": "Phosphoenolpyruvate carboxykinase deficiency, mitochondrial" }, { - "baseId": "361445|431519|431520|431521|431522|431523|434077|434078|434079|434080", + "upstreamId": "361445|431519|431520|431521|431522|431523|434077|434078|434079|434080", "text": "STAG1-related disorder" }, { - "baseId": "361695|361696|364179", + "upstreamId": "361695|361696|364179", "text": "Abnormality of skeletal morphology" }, { - "baseId": "361695|361696|906204|917742|917743|917744|919190|919191|925413|971279|971280|971281|975862", + "upstreamId": "361695|361696|906204|917742|917743|917744|919190|919191|925413|971279|971280|971281|975862", "text": "Congenital heart defects and skeletal malformations syndrome" }, { - "baseId": "361709", + "upstreamId": "361709", "text": "Pemigatinib resistance" }, { - "baseId": "361712", + "upstreamId": "361712", "text": "FGFR2-related syndromic and non-syndromic craniosynostoses" }, { - "baseId": "361740", + "upstreamId": "361740", "text": "Uncombable hair syndrome 3" }, { - "baseId": "361741|361742|590224|679754", + "upstreamId": "361741|361742|590224|679754", "text": "Hydrops fetalis, nonimmune, and/or atrial septal defect, susceptibility to" }, { - "baseId": "361743|361744|792605|919222|919223", + "upstreamId": "361743|361744|792605|919222|919223", "text": "Glaucoma 3, primary congenital, E" }, { - "baseId": "361745", + "upstreamId": "361745", "text": "Uncombable hair syndrome 2" }, { - "baseId": "361747|361748|361749|361750|538354|654123|798521|798522", + "upstreamId": "361747|361748|361749|361750|538354|654123|798521|798522", "text": "Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies" }, { - "baseId": "361751|361752|361753|361754|361755|361756|789130|791490", + "upstreamId": "361751|361752|361753|361754|361755|361756|789130|791490", "text": "Epileptic encephalopathy, early infantile, 48" }, { - "baseId": "361757|361758|361759|361760|361761|361762|790797|790798|805088", + "upstreamId": "361757|361758|361759|361760|361761|361762|790797|790798|805088", "text": "Epilepsy, early-onset, vitamin b6-dependent" }, { - "baseId": "361767|361768|361769|361770|361771|362584|362590", + "upstreamId": "361767|361768|361769|361770|361771|362584|362590", "text": "Amelogenesis imperfecta, type IJ" }, { - "baseId": "361772|361773|361774", + "upstreamId": "361772|361773|361774", "text": "Uncombable hair syndrome" }, { - "baseId": "361775|361776|361777|361778|361779|361780|361781|361782|446086|481407|513476|539089|539978|539979|539980|539981|539982|539983|553400|581821|581822|679810|798746|798747|798748|798749|798750|806040|858745|919848|920405|963184|964891|971126|976672", + "upstreamId": "361775|361776|361777|361778|361779|361780|361781|361782|446086|481407|513476|539089|539978|539979|539980|539981|539982|539983|553400|581821|581822|679810|798746|798747|798748|798749|798750|806040|858745|919848|920405|963184|964891|971126|976672", "text": "Dystonia 28, childhood-onset" }, { - "baseId": "361783|361784|361786|361787|361788|442819|513407|798471", + "upstreamId": "361783|361784|361786|361787|361788|442819|513407|798471", "text": "Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities" }, { - "baseId": "361783|361784|361786|361787|361788|442819", + "upstreamId": "361783|361784|361786|361787|361788|442819", "text": "Childhood Onset Dystonias" }, { - "baseId": "361789|361790", + "upstreamId": "361789|361790", "text": "Tooth agenesis, selective, 9" }, { - "baseId": "361813|361814|361815|424350|425212|434581|578407|920112|920113|920156|920157", + "upstreamId": "361813|361814|361815|424350|425212|434581|578407|920112|920113|920156|920157", "text": "Spastic paraplegia, intellectual disability, nystagmus, and obesity" }, { - "baseId": "361820|361821|361822|361823|361824|361825|788888|906263", + "upstreamId": "361820|361821|361822|361823|361824|361825|788888|906263", "text": "Nephronophthisis 20" }, { - "baseId": "361830|361831|361832|361833|362362|362363", + "upstreamId": "361830|361831|361832|361833|362362|362363", "text": "Epileptic encephalopathy, early infantile, 49" }, { - "baseId": "361859", + "upstreamId": "361859", "text": "Suxamethonium sensitivity" }, { - "baseId": "361877", + "upstreamId": "361877", "text": "Hereditary Mixed Polyposis" }, { - "baseId": "361892", + "upstreamId": "361892", "text": "Optic atrophy 11" }, { - "baseId": "361893", + "upstreamId": "361893", "text": "Mucopolysaccharidosis-plus syndrome" }, { - "baseId": "361894|361895|361896|447915|448245|557286|589796|628031|628032|696764|707425|707426|707427|707428|707430|707431|718981|718982|732485|732486|824137|824138|952442", + "upstreamId": "361894|361895|361896|447915|448245|557286|589796|628031|628032|696764|707425|707426|707427|707428|707430|707431|718981|718982|732485|732486|824137|824138|952442", "text": "Glycine encephalopathy with normal serum glycine" }, { - "baseId": "361897|361899|361900|362088", + "upstreamId": "361897|361899|361900|362088", "text": "Retinitis pigmentosa 77" }, { - "baseId": "361924|362581|553378", + "upstreamId": "361924|362581|553378", "text": "Bile acid synthesis defect, congenital, 6" }, { - "baseId": "362080|362081|439477|439583|550788|583211", + "upstreamId": "362080|362081|439477|439583|550788|583211", "text": "Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis" }, { - "baseId": "362082", + "upstreamId": "362082", "text": "Ichthyosis, congenital, autosomal recessive 12" }, { - "baseId": "362085|362086|362087", + "upstreamId": "362085|362086|362087", "text": "Anterior segment dysgenesis 8" }, { - "baseId": "362134", + "upstreamId": "362134", "text": "Abnormality of the basal ganglia" }, { - "baseId": "362134", + "upstreamId": "362134", "text": "Abnormal muscle tone" }, { - "baseId": "362138|362139|389102|414715|446863|446866|513885|626136|790398|903525|918834", + "upstreamId": "362138|362139|389102|414715|446863|446866|513885|626136|790398|903525|918834", "text": "Neurodevelopmental disorder with severe motor impairment and absent language" }, { - "baseId": "362144|362151", + "upstreamId": "362144|362151", "text": "Obsessive-compulsive behavior" }, { - "baseId": "362152", + "upstreamId": "362152", "text": "Neurogenic bladder" }, { - "baseId": "362152", + "upstreamId": "362152", "text": "Broad-based gait" }, { - "baseId": "362154", + "upstreamId": "362154", "text": "Abnormal biliary tract morphology" }, { - "baseId": "362154", + "upstreamId": "362154", "text": "Asplenia" }, { - "baseId": "362154", + "upstreamId": "362154", "text": "Reduced number of intrahepatic bile ducts" }, { - "baseId": "362154", + "upstreamId": "362154", "text": "Duodenal atresia (disease)" }, { - "baseId": "362158|362159|422029|553300|590082|858765|858766", + "upstreamId": "362158|362159|422029|553300|590082|858765|858766", "text": "Relative macrocephaly" }, { - "baseId": "362165", + "upstreamId": "362165", "text": "Cerebellar vermis atrophy" }, { - "baseId": "362179", + "upstreamId": "362179", "text": "Mental retardation, autosomal recessive 59" }, { - "baseId": "362182|683224", + "upstreamId": "362182|683224", "text": "Multiple mitochondrial dysfunctions syndrome 5" }, { - "baseId": "362204", + "upstreamId": "362204", "text": "Hypertelorism and tetralogy of fallot" }, { - "baseId": "362225", + "upstreamId": "362225", "text": "Cronkhite-Canada syndrome" }, { - "baseId": "362226", + "upstreamId": "362226", "text": "Functional motor deficit" }, { - "baseId": "362285", + "upstreamId": "362285", "text": "Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type" }, { - "baseId": "362372|362373|553404|706045|858295|905813", + "upstreamId": "362372|362373|553404|706045|858295|905813", "text": "Ciliary dyskinesia, primary, 36, X-linked" }, { - "baseId": "362374|362375|362376|362377|362377|362378|425883|460061|497142|563876|837143", + "upstreamId": "362374|362375|362376|362377|362377|362378|425883|460061|497142|563876|837143", "text": "Nemaline myopathy 11, autosomal recessive" }, { - "baseId": "362402|362403", + "upstreamId": "362402|362403", "text": "Cerebroretinal microangiopathy with calcifications and cysts 2" }, { - "baseId": "362450", + "upstreamId": "362450", "text": "Abnormality of lipid metabolism" }, { - "baseId": "362479|362480|362481|362482|362483|514308|514309", + "upstreamId": "362479|362480|362481|362482|362483|514308|514309", "text": "Grange syndrome" }, { - "baseId": "362492|362493", + "upstreamId": "362492|362493", "text": "Aortic aneurysm, familial thoracic 11, susceptibility to" }, { - "baseId": "362494", + "upstreamId": "362494", "text": "nicotine response - Efficacy, Toxicity/ADR" }, { - "baseId": "362499", + "upstreamId": "362499", "text": "ethambutol, isoniazid, pyrazinamide, and rifampin response - Toxicity/ADR" }, { - "baseId": "362503", + "upstreamId": "362503", "text": "rosiglitazone response - Metabolism/PK" }, { - "baseId": "362504", + "upstreamId": "362504", "text": "cocaine response - Toxicity/ADR" }, { - "baseId": "362506", + "upstreamId": "362506", "text": "nicotine response - Toxicity/ADR, Metabolism/PK" }, { - "baseId": "362507", + "upstreamId": "362507", "text": "captopril response - Efficacy" }, { - "baseId": "362508", + "upstreamId": "362508", "text": "capecitabine response - Efficacy" }, { - "baseId": "362509", + "upstreamId": "362509", "text": "peginterferon alfa-2a response - Efficacy" }, { - "baseId": "362591|362592|362593|362594|550609", + "upstreamId": "362591|362592|362593|362594|550609", "text": "Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies" }, { - "baseId": "362595|590711|590712|590713", + "upstreamId": "362595|590711|590712|590713", "text": "Autosomal recessive non-syndromic intellectual disability" }, { - "baseId": "362596", + "upstreamId": "362596", "text": "Syndromic intellectual disability, X-linked" }, { - "baseId": "362616|362617", + "upstreamId": "362616|362617", "text": "Mental retardation, autosomal recessive 60" }, { - "baseId": "362625|362626|791399|919526|970993", + "upstreamId": "362625|362626|791399|919526|970993", "text": "Congenital heart defects and ectodermal dysplasia" }, { - "baseId": "362644|424978", + "upstreamId": "362644|424978", "text": "Short nose" }, { - "baseId": "362736", + "upstreamId": "362736", "text": "Familial aortic aneurysms" }, { - "baseId": "362740", + "upstreamId": "362740", "text": "Hereditary mixed polyposis syndrome" }, { - "baseId": "362757|363157|363158", + "upstreamId": "362757|363157|363158", "text": "Squamous cell carcinoma" }, { - "baseId": "362775", + "upstreamId": "362775", "text": "Histone Methylation Therapy response" }, { - "baseId": "362834|362836|362880|362881|363190|451841|622029|622030", + "upstreamId": "362834|362836|362880|362881|363190|451841|622029|622030", "text": "Uveal melanoma" }, { - "baseId": "362901|615336|615547|615747", + "upstreamId": "362901|615336|615547|615747", "text": "Abnormal platelet function" }, { - "baseId": "362909", + "upstreamId": "362909", "text": "Leukemia, acute, ?X-linked" }, { - "baseId": "362943|363140|363142|983779|983780|983781|983782|983783|983784", + "upstreamId": "362943|363140|363142|983779|983780|983781|983782|983783|983784", "text": "Vascular Malformations and Overgrowth" }, { - "baseId": "362955|363107", + "upstreamId": "362955|363107", "text": "Esophageal Squamous Cell Carcinoma" }, { - "baseId": "362992|362993|362995", + "upstreamId": "362992|362993|362995", "text": "Leukemoid Reaction" }, { - "baseId": "363027|583093", + "upstreamId": "363027|583093", "text": "Mast cell disease, systemic" }, { - "baseId": "363110|363114", + "upstreamId": "363110|363114", "text": "Neoplasm of the parathyroid gland" }, { - "baseId": "363227", + "upstreamId": "363227", "text": "Granulosa Cell Tumor" }, { - "baseId": "363228|363229|363230", + "upstreamId": "363228|363229|363230", "text": "Leukemia-Lymphoma, Adult T-Cell" }, { - "baseId": "363238", + "upstreamId": "363238", "text": "Trabecular adenocarcinoma" }, { - "baseId": "363345|438544|438545|438546", + "upstreamId": "363345|438544|438545|438546", "text": "Immunodeficiency, developmental delay, and hypohomocysteinemia" }, { - "baseId": "363377", + "upstreamId": "363377", "text": "Intestinal duplication" }, { - "baseId": "363377", + "upstreamId": "363377", "text": "Megalencephaly" }, { - "baseId": "363377", + "upstreamId": "363377", "text": "Abnormality of the hairline" }, { - "baseId": "363377", + "upstreamId": "363377", "text": "Diaphragmatic eventration" }, { - "baseId": "363379|513783", + "upstreamId": "363379|513783", "text": "Anti-PDL1 response" }, { - "baseId": "363630", + "upstreamId": "363630", "text": "Agammaglobulinemia" }, { - "baseId": "363638", + "upstreamId": "363638", "text": "Wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome" }, { - "baseId": "363734|490691", + "upstreamId": "363734|490691", "text": "Mitochondrial complex 1 deficiency, nuclear type 15" }, { - "baseId": "363926|516598", + "upstreamId": "363926|516598", "text": "IFIH1-related immunodeficiency" }, { - "baseId": "364270|364271|364278|364279|389089|389090|389091", + "upstreamId": "364270|364271|364278|364279|389089|389090|389091", "text": "Mental retardation, autosomal dominant" }, { - "baseId": "364928", + "upstreamId": "364928", "text": "ACTA1 gene related myopathy" }, { - "baseId": "365258|365560|628286", + "upstreamId": "365258|365560|628286", "text": "Myopathy, epilepsy, and progressive cerebral atrophy" }, { - "baseId": "365915", + "upstreamId": "365915", "text": "SCN9A-related disorders" }, { - "baseId": "366957", + "upstreamId": "366957", "text": "STAG1-Related Disorders" }, { - "baseId": "367600", + "upstreamId": "367600", "text": "SETD2-related disorder" }, { - "baseId": "369376|695384", + "upstreamId": "369376|695384", "text": "PLEC-related epidermolysis bullosa" }, { - "baseId": "372454|621008|959510", + "upstreamId": "372454|621008|959510", "text": "Deafness, autosomal recessive 94" }, { - "baseId": "373902|904882|984269", + "upstreamId": "373902|904882|984269", "text": "Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy" }, { - "baseId": "373902|419135|419136|419137|682323|798619|816403|961417|963332|963333", + "upstreamId": "373902|419135|419136|419137|682323|798619|816403|961417|963332|963333", "text": "Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies" }, { - "baseId": "375180", + "upstreamId": "375180", "text": "TUBA1A-associated tubulinopathy" }, { - "baseId": "375263|613443", + "upstreamId": "375263|613443", "text": "COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA" }, { - "baseId": "375817|801257", + "upstreamId": "375817|801257", "text": "Abnormality of the cerebellum" }, { - "baseId": "375817", + "upstreamId": "375817", "text": "Hyperkinesis" }, { - "baseId": "377094|378137|404746", + "upstreamId": "377094|378137|404746", "text": "Intervertebral disc disorder" }, { - "baseId": "377094|513966|514139|800575|962074", + "upstreamId": "377094|513966|514139|800575|962074", "text": "Retinal detachment" }, { - "baseId": "377094|962074", + "upstreamId": "377094|962074", "text": "Lattice retinal degeneration" }, { - "baseId": "377366|508921|508922|512856|975671", + "upstreamId": "377366|508921|508922|512856|975671", "text": "Persistent Mullerian duct syndrome" }, { - "baseId": "377641", + "upstreamId": "377641", "text": "Rib fusion" }, { - "baseId": "377731", + "upstreamId": "377731", "text": "Disrupted sleep-wake cycle with developmental delay and learning difficulty" }, { - "baseId": "377844|679430", + "upstreamId": "377844|679430", "text": "Family history of sudden cardiac death" }, { - "baseId": "379403|857584", + "upstreamId": "379403|857584", "text": "Congenital disorder of glycosylation, type IIr" }, { - "baseId": "379911", + "upstreamId": "379911", "text": "GRIA3-Related Disorder" }, { - "baseId": "380151|380152", + "upstreamId": "380151|380152", "text": "Peroxisome biogenesis disorder 10b" }, { - "baseId": "380157|380158|380159|624072|681918|681919|681920|681921|681922|790971|858815|858816|858817|858818", + "upstreamId": "380157|380158|380159|624072|681918|681919|681920|681921|681922|790971|858815|858816|858817|858818", "text": "Hyperphenylalaninemia, mild, non-bh4-deficient" }, { - "baseId": "380164|380165|797580|919750", + "upstreamId": "380164|380165|797580|919750", "text": "Autoinflammation with arthritis and dyskeratosis" }, { - "baseId": "380285", + "upstreamId": "380285", "text": "46,XY sex reversal, type 4" }, { - "baseId": "380291", + "upstreamId": "380291", "text": "Ectodermal dysplasia 13, hair/tooth type" }, { - "baseId": "380469", + "upstreamId": "380469", "text": "Cutaneous leiomyoma" }, { - "baseId": "380479|380480|404637|404638|404639", + "upstreamId": "380479|380480|404637|404638|404639", "text": "Anauxetic dysplasia 2" }, { - "baseId": "383299|613885|969292", + "upstreamId": "383299|613885|969292", "text": "Cat eye syndrome" }, { - "baseId": "384424", + "upstreamId": "384424", "text": "Mutism" }, { - "baseId": "384424|983555", + "upstreamId": "384424|983555", "text": "Psychosis" }, { - "baseId": "384445|514159|514160|590046", + "upstreamId": "384445|514159|514160|590046", "text": "Profound global developmental delay" }, { - "baseId": "384446|384447|792008", + "upstreamId": "384446|384447|792008", "text": "Early infantile epileptic encephalopathy 55" }, { - "baseId": "384448|384449|384450|434390|434391|790305|920183", + "upstreamId": "384448|384449|384450|434390|434391|790305|920183", "text": "Pontocerebellar hypoplasia, type 11" }, { - "baseId": "384625", + "upstreamId": "384625", "text": "Idiopathic scoliosis" }, { - "baseId": "389089|389091|679592|679593|679594|679595|679596|789743|789744|816468|964924", + "upstreamId": "389089|389091|679592|679593|679594|679595|679596|789743|789744|816468|964924", "text": "Weiss-kruszka syndrome" }, { - "baseId": "389122|514297|514298", + "upstreamId": "389122|514297|514298", "text": "Developmental and epileptic encephalopathy, 63" }, { - "baseId": "389127|389128|510989|510990|513202|550560|550561|553136|553137|553138|553139|553140|553141|553142|581225|581226|816460|861566|861567|964828|964829|984265|984268", + "upstreamId": "389127|389128|510989|510990|513202|550560|550561|553136|553137|553138|553139|553140|553141|553142|581225|581226|816460|861566|861567|964828|964829|984265|984268", "text": "Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy" }, { - "baseId": "389133|622936|622937|622938|622939|622940|622941|622942|679879|679880|679881|679882|679883|679884|816465|970841", + "upstreamId": "389133|622936|622937|622938|622939|622940|622941|622942|679879|679880|679881|679882|679883|679884|816465|970841", "text": "Developmental and epileptic encephalopathy, 76" }, { - "baseId": "389153|679682|679685|679686|792633", + "upstreamId": "389153|679682|679685|679686|792633", "text": "Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies" }, { - "baseId": "389153|679672|679673|679674|679675|679676|679677|679678|679679|679680|679681|679682|679683|679684|679685|679686|679687|679688|679689", + "upstreamId": "389153|679672|679673|679674|679675|679676|679677|679678|679679|679680|679681|679682|679683|679684|679685|679686|679687|679688|679689", "text": "Neurodevelopmental disorders" }, { - "baseId": "389763|563602|634913|686861|972824|972827|972828|983793|983794|983795", + "upstreamId": "389763|563602|634913|686861|972824|972827|972828|983793|983794|983795", "text": "Spermatogenic failure 46" }, { - "baseId": "390062|390599|462450|463295|463308|512979", + "upstreamId": "390062|390599|462450|463295|463308|512979", "text": "Glaucoma 1, open angle, p" }, { - "baseId": "390431|470227|470757|470764|471279|471280|533358|533359|533361|533439|533441|533874|533878|571068|572783|573400|648438|648439|648440|648441|648442|648443|648444|648445|648446|716655|716656|728381|728382|742098|821286|848029|848030|848031|848032|848033|848034|848035|848036|848037|848038|848039|848040|848041|929100|929101|929102|929103|938842|938843|950907|950908|950909|950910|958727|958728", + "upstreamId": "390431|470227|470757|470764|471279|471280|533358|533359|533361|533439|533441|533874|533878|571068|572783|573400|648438|648439|648440|648441|648442|648443|648444|648445|648446|716655|716656|728381|728382|742098|821286|848029|848030|848031|848032|848033|848034|848035|848036|848037|848038|848039|848040|848041|929100|929101|929102|929103|938842|938843|950907|950908|950909|950910|958727|958728", "text": "Periodontitis" }, { - "baseId": "390603|575507", + "upstreamId": "390603|575507", "text": "TSPEAR-related disorder of tooth and hair follicle morphogenesis" }, { - "baseId": "390704|390705|390706|390707|390708|853053|853054|853055|853056|857392|857393", + "upstreamId": "390704|390705|390706|390707|390708|853053|853054|853055|853056|857392|857393", "text": "Congenital NAD deficiency disorder" }, { - "baseId": "390704|390705|390706", + "upstreamId": "390704|390705|390706", "text": "Vertebral, cardiac, renal, and limb defects syndrome 2" }, { - "baseId": "390707|390708|792730", + "upstreamId": "390707|390708|792730", "text": "Vertebral, cardiac, renal, and limb defects syndrome 1" }, { - "baseId": "391112", + "upstreamId": "391112", "text": "Hemoglobin, high altitude adaptation" }, { - "baseId": "393998", + "upstreamId": "393998", "text": "Impaired thermal sensitivity" }, { - "baseId": "395447", + "upstreamId": "395447", "text": "DSP-Related Disorders" }, { - "baseId": "397398|407634", + "upstreamId": "397398|407634", "text": "GRIN1-Related Disorder" }, { - "baseId": "397946|514059|514208|620168|623603|971435", + "upstreamId": "397946|514059|514208|620168|623603|971435", "text": "Hemangioma" }, { - "baseId": "398572", + "upstreamId": "398572", "text": "Beckwith-Wiedemann syndrome due to CDKN1C mutation" }, { - "baseId": "400294|643484|678093|678094|678095|678096|678097|678098|678099|678100|678101|678102|678103|678104|678105|678106|678107|678108|678109|678110|678111|678112|678113|678114", + "upstreamId": "400294|643484|678093|678094|678095|678096|678097|678098|678099|678100|678101|678102|678103|678104|678105|678106|678107|678108|678109|678110|678111|678112|678113|678114", "text": "Radioulnar synostosis" }, { - "baseId": "400923", + "upstreamId": "400923", "text": "TSC2-Related Disorder" }, { - "baseId": "404612|404613|404614|404615|404616", + "upstreamId": "404612|404613|404614|404615|404616", "text": "TRIT1 Deficiency" }, { - "baseId": "404612|404613|404614|404615|404616|425370|485882", + "upstreamId": "404612|404613|404614|404615|404616|425370|485882", "text": "Combined oxidative phosphorylation deficiency 35" }, { - "baseId": "404617|413182|418811|418812|611800|789145|789146|789147|789148|789149|789150|789151|789152|818310|818311", + "upstreamId": "404617|413182|418811|418812|611800|789145|789146|789147|789148|789149|789150|789151|789152|818310|818311", "text": "Intellectual developmental disorder and retinitis pigmentosa" }, { - "baseId": "404617|413182|418811|418812|611800|789145|789146|789147|789148|789149|789150|789151|789152|818310|818311", + "upstreamId": "404617|413182|418811|418812|611800|789145|789146|789147|789148|789149|789150|789151|789152|818310|818311", "text": " IDDRP" }, { - "baseId": "404634|404635|404636|980591", + "upstreamId": "404634|404635|404636|980591", "text": "3MC syndrome 3" }, { - "baseId": "404647|404648|404649|404650|404652|514430|677987|677988|677989|677990|677991|677992|677993|677994|920151", + "upstreamId": "404647|404648|404649|404650|404652|514430|677987|677988|677989|677990|677991|677992|677993|677994|920151", "text": "Pontocerebellar hypoplasia, type 7" }, { - "baseId": "404655|404656|404657|404658|404659|802229|802230", + "upstreamId": "404655|404656|404657|404658|404659|802229|802230", "text": "Retinitis pigmentosa 78" }, { - "baseId": "404660|404661", + "upstreamId": "404660|404661", "text": "Autosomal recessive cutis laxa type 2c" }, { - "baseId": "404664|404665", + "upstreamId": "404664|404665", "text": "MacInnes syndrome" }, { - "baseId": "404666", + "upstreamId": "404666", "text": "Diamond-Blackfan anemia 17" }, { - "baseId": "404671|404672|447692|447855|556802|557005|558359|627430|627431|627432|696567|696568|707188|707190|707191|718770|718771|718773|718776|718777|718778|729979|729980|743726|743735|746256|761705|778806|794606|794607|930344|930345|941778", + "upstreamId": "404671|404672|447692|447855|556802|557005|558359|627430|627431|627432|696567|696568|707188|707190|707191|718770|718771|718773|718776|718777|718778|729979|729980|743726|743735|746256|761705|778806|794606|794607|930344|930345|941778", "text": "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIq" }, { - "baseId": "404673|404674|918791|920185", + "upstreamId": "404673|404674|918791|920185", "text": "Autosomal recessive cutis laxa type 2d" }, { - "baseId": "404675|404676|799090", + "upstreamId": "404675|404676|799090", "text": "Pseudo-TORCH syndrome 2" }, { - "baseId": "404677", + "upstreamId": "404677", "text": "Diamond-Blackfan anemia 16" }, { - "baseId": "404678|404679|404680|404681|404682|404683|404684", + "upstreamId": "404678|404679|404680|404681|404682|404683|404684", "text": "Muscular dystrophy, congenital, with cataracts and intellectual disability" }, { - "baseId": "404685|919826|920398|920399", + "upstreamId": "404685|919826|920398|920399", "text": "Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination" }, { - "baseId": "404687", + "upstreamId": "404687", "text": "Hereditary spastic paraplegia 23" }, { - "baseId": "404692|404693|404694|801576", + "upstreamId": "404692|404693|404694|801576", "text": "Short-rib thoracic dysplasia 17 with or without polydactyly" }, { - "baseId": "404695|404696|404697|612442", + "upstreamId": "404695|404696|404697|612442", "text": "Immunoskeletal dysplasia with neurodevelopmental abnormalities" }, { - "baseId": "404698|423866", + "upstreamId": "404698|423866", "text": "Keloid formation" }, { - "baseId": "404704|404705|404706", + "upstreamId": "404704|404705|404706", "text": "CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO" }, { - "baseId": "404771|404772|404773", + "upstreamId": "404771|404772|404773", "text": "Coronary heart disease 7" }, { - "baseId": "404854|404855|405220|427850|438548|550180|609018|789349|918644|964802|969291", + "upstreamId": "404854|404855|405220|427850|438548|550180|609018|789349|918644|964802|969291", "text": "Brain malformations and urinary tract defects" }, { - "baseId": "404856", + "upstreamId": "404856", "text": "Premature ovarian failure 13" }, { - "baseId": "404859|404860", + "upstreamId": "404859|404860", "text": "Thrombocytopenia 3" }, { - "baseId": "404861|816459|980922", + "upstreamId": "404861|816459|980922", "text": "Thrombocytopenia, anemia, and myelofibrosis" }, { - "baseId": "405070", + "upstreamId": "405070", "text": "Huntington disease-like syndrome" }, { - "baseId": "405689|971396", + "upstreamId": "405689|971396", "text": "Abnormality of skin pigmentation" }, { - "baseId": "406053|446889", + "upstreamId": "406053|446889", "text": "Abnormality of the optic nerve" }, { - "baseId": "406284|682982|682984|683085", + "upstreamId": "406284|682982|682984|683085", "text": "Sodium channelopathy-related small fiber neuropathy" }, { - "baseId": "406654", + "upstreamId": "406654", "text": "PPP2R2B-Related Disorder" }, { - "baseId": "406667", + "upstreamId": "406667", "text": "Treacher Collins syndrome" }, { - "baseId": "406680", + "upstreamId": "406680", "text": "GABRA6-Related Disorder" }, { - "baseId": "406735", + "upstreamId": "406735", "text": "SQSTM1-related disorder" }, { - "baseId": "406757", + "upstreamId": "406757", "text": "NDUFAF2-Related Disorders" }, { - "baseId": "406763|538988|583097|622353|789739", + "upstreamId": "406763|538988|583097|622353|789739", "text": "Mental retardation, autosomal dominant 34" }, { - "baseId": "406782|432450|432451|432452|623287|623288|918985|970817", + "upstreamId": "406782|432450|432451|432452|623287|623288|918985|970817", "text": "Pilarowski-Bjornsson syndrome" }, { - "baseId": "407120|427107|427108|427110|553384|561899|614312|614313", + "upstreamId": "407120|427107|427108|427110|553384|561899|614312|614313", "text": "Immunodeficiency 11b with atopic dermatitis" }, { - "baseId": "407259", + "upstreamId": "407259", "text": "HSPB1-Related Disorder" }, { - "baseId": "407275|407279|407280|495362", + "upstreamId": "407275|407279|407280|495362", "text": "COL1A2-Related Disorder" }, { - "baseId": "407647|550740|550741|550742|550743|550744|550745|919220|964326|970905|970906|977238", + "upstreamId": "407647|550740|550741|550742|550743|550744|550745|919220|964326|970905|970906|977238", "text": "Macrocephaly, acquired, with impaired intellectual development" }, { - "baseId": "408356|966205|966207|966208|966213", + "upstreamId": "408356|966205|966207|966208|966213", "text": "Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia" }, { - "baseId": "408753|432104|539047|970974", + "upstreamId": "408753|432104|539047|970974", "text": "Deafness, autosomal dominant 73" }, { - "baseId": "408795", + "upstreamId": "408795", "text": "COL4A1-Related Disorder" }, { - "baseId": "409073", + "upstreamId": "409073", "text": "CHD8-Related Disorders" }, { - "baseId": "409352|792608", + "upstreamId": "409352|792608", "text": "CHRNA3-related condition" }, { - "baseId": "409578|409583|653803|653804", + "upstreamId": "409578|409583|653803|653804", "text": "Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome" }, { - "baseId": "409660|966898|966899|966901|966902|970508|983848", + "upstreamId": "409660|966898|966899|966901|966902|970508|983848", "text": "Vissers-Bodmer syndrome" }, { - "baseId": "409773", + "upstreamId": "409773", "text": "DEHYDRATED HEREDITARY STOMATOCYTOSIS WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA" }, { - "baseId": "410148", + "upstreamId": "410148", "text": "Ovarian Cancers" }, { - "baseId": "410288|961340", + "upstreamId": "410288|961340", "text": "CHD3-Related Disorder" }, { - "baseId": "410288|512330|540496|540497|540498|540499|540500|540501|540502|540503|540504|540505|540506|540507|540508|540509|540510|540511|540512|540513|540515|920382|964881|971094|971095", + "upstreamId": "410288|512330|540496|540497|540498|540499|540500|540501|540502|540503|540504|540505|540506|540507|540508|540509|540510|540511|540512|540513|540515|920382|964881|971094|971095", "text": "Snijders blok-campeau syndrome" }, { - "baseId": "410530", + "upstreamId": "410530", "text": "Bulbar palsy" }, { - "baseId": "410530", + "upstreamId": "410530", "text": "Recurrent respiratory infections" }, { - "baseId": "410891", + "upstreamId": "410891", "text": "COL6A1-related Disorder" }, { - "baseId": "410924", + "upstreamId": "410924", "text": "Cataract 17" }, { - "baseId": "410985", + "upstreamId": "410985", "text": "MORC2-related developmental disorder" }, { - "baseId": "410985|792534|792585|980603", + "upstreamId": "410985|792534|792585|980603", "text": "DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY" }, { - "baseId": "410999|411005", + "upstreamId": "410999|411005", "text": "DEPDC5-Related Disorder" }, { - "baseId": "411308", + "upstreamId": "411308", "text": "IL1RAPL1-Related Disorder" }, { - "baseId": "411339", + "upstreamId": "411339", "text": "USP9X related disorders" }, { - "baseId": "411435|822344|822346|822348|822349|822350|966173", + "upstreamId": "411435|822344|822346|822348|822349|822350|966173", "text": "Wieacker-Wolff syndrome, female-restricted" }, { - "baseId": "411489", + "upstreamId": "411489", "text": "ATRX-Related Disorder" }, { - "baseId": "411536|613898|613899|615852|615873", + "upstreamId": "411536|613898|613899|615852|615873", "text": "11q partial monosomy syndrome" }, { - "baseId": "413180|970994", + "upstreamId": "413180|970994", "text": "Townes-Brocks syndrome 2" }, { - "baseId": "413182|609021|798919|800619|800620", + "upstreamId": "413182|609021|798919|800619|800620", "text": "Syndromic retinitis pigmentosa" }, { - "baseId": "413199|413200|413201|413202|413203|413204|540467|540468|788926|963182|963183", + "upstreamId": "413199|413200|413201|413202|413203|413204|540467|540468|788926|963182|963183", "text": "Arthrogryposis multiplex congenita, neurogenic, with myelin defect" }, { - "baseId": "413209|413210|413211|413212|413213|438051|536505|550630|611863|613832|626462|964487|970509", + "upstreamId": "413209|413210|413211|413212|413213|438051|536505|550630|611863|613832|626462|964487|970509", "text": "Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold" }, { - "baseId": "413236|413585|413712|437893|438312|486402|612755|612912|790627|794743|798146|801311|801312|801320|801322|801324|801326|801364", + "upstreamId": "413236|413585|413712|437893|438312|486402|612755|612912|790627|794743|798146|801311|801312|801320|801322|801324|801326|801364", "text": "Isolated macular dystrophy" }, { - "baseId": "413297|578329", + "upstreamId": "413297|578329", "text": "Joubert syndrome 35" }, { - "baseId": "413483|481074|576060|576061|965884|970510", + "upstreamId": "413483|481074|576060|576061|965884|970510", "text": "Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies" }, { - "baseId": "413491|609026|610497", + "upstreamId": "413491|609026|610497", "text": "Combined oxidative phosphorylation deficiency 37" }, { - "baseId": "414000|539139", + "upstreamId": "414000|539139", "text": "Dentinogenesis imperfecta" }, { - "baseId": "414475|414476|414477|414478", + "upstreamId": "414475|414476|414477|414478", "text": "Retinitis pigmentosa with or without skeletal anomalies" }, { - "baseId": "414516|414517|677316|677317|702910|963168", + "upstreamId": "414516|414517|677316|677317|702910|963168", "text": "Structural heart defects and renal anomalies syndrome" }, { - "baseId": "414648|414649|414650|980155|980910", + "upstreamId": "414648|414649|414650|980155|980910", "text": "Cardiac valvular defect, developmental" }, { - "baseId": "414711|414712|414713|414714|622260|622261", + "upstreamId": "414711|414712|414713|414714|622260|622261", "text": "Ichthyosis, congenital, autosomal recessive 14" }, { - "baseId": "415113", + "upstreamId": "415113", "text": "Chronic granulomatous disease due to deficiency of NCF-1" }, { - "baseId": "415242|444691|513599|564063|564950|639325|665615|925986|935257|935258|947157|947158|947159|947160|956289|956290", + "upstreamId": "415242|444691|513599|564063|564950|639325|665615|925986|935257|935258|947157|947158|947159|947160|956289|956290", "text": "de Barsy syndrome" }, { - "baseId": "415499", + "upstreamId": "415499", "text": "SLC6A2-related disorder" }, { - "baseId": "415601", + "upstreamId": "415601", "text": "Decreased activity of mitochondrial complex I" }, { - "baseId": "415601", + "upstreamId": "415601", "text": "Gastrostomy tube feeding in infancy" }, { - "baseId": "416845|513080", + "upstreamId": "416845|513080", "text": "Pancreatic lipase deficiency" }, { - "baseId": "416932", + "upstreamId": "416932", "text": "Beta-aminoisobutyric aciduria" }, { - "baseId": "417078", + "upstreamId": "417078", "text": "Distal trisomy 1p36" }, { - "baseId": "417247|964423|980953", + "upstreamId": "417247|964423|980953", "text": "Craniosynostosis 7" }, { - "baseId": "417544|417545", + "upstreamId": "417544|417545", "text": "Immunodeficiency 52" }, { - "baseId": "417641|417642|417643|417644|417645", + "upstreamId": "417641|417642|417643|417644|417645", "text": "Acute myeloid leukemia with maturation" }, { - "baseId": "417660|417661|417662|798544", + "upstreamId": "417660|417661|417662|798544", "text": "Fibromatosis, gingival, 5" }, { - "baseId": "417868|417869|417870|417871|626376|791821|798723|961337", + "upstreamId": "417868|417869|417870|417871|626376|791821|798723|961337", "text": "Stankiewicz-Isidor syndrome" }, { - "baseId": "418319|418320|418321|418322", + "upstreamId": "418319|418320|418321|418322", "text": "Erythrokeratodermia variabilis et progressiva 4" }, { - "baseId": "418437|788727", + "upstreamId": "418437|788727", "text": "Neurodevelopmental disorder with midbrain and hindbrain malformations" }, { - "baseId": "418797", + "upstreamId": "418797", "text": "Cardio-cutaneous syndrome" }, { - "baseId": "418798", + "upstreamId": "418798", "text": "Hypokinetic non-dilated cardiomyopathy" }, { - "baseId": "419004|419005|419006|419007|419008|419009|419010|419011|419012|419013|538963", + "upstreamId": "419004|419005|419006|419007|419008|419009|419010|419011|419012|419013|538963", "text": "ARMC9-related Joubert syndrome" }, { - "baseId": "419005|419006|419007|419008|419009|419010|419011|419012|419013|513217|624048|624090", + "upstreamId": "419005|419006|419007|419008|419009|419010|419011|419012|419013|513217|624048|624090", "text": "Joubert syndrome 30" }, { - "baseId": "419289", + "upstreamId": "419289", "text": "Sinus bradycardia" }, { - "baseId": "419298|425264|425265|425266|425267", + "upstreamId": "419298|425264|425265|425266|425267", "text": "Protein-losing enteropathy (disease)" }, { - "baseId": "420007|420008|420009|420012|420013|420014|420015|420016", + "upstreamId": "420007|420008|420009|420012|420013|420014|420015|420016", "text": "Axial spondylometaphyseal dysplasia" }, { - "baseId": "420147", + "upstreamId": "420147", "text": "Leukodystrophy, hypomyelinating, 17" }, { - "baseId": "420284|420285", + "upstreamId": "420284|420285", "text": "Intellectual developmental disorder with neuropsychiatric features" }, { - "baseId": "420424|420425|420426|495307|514534|623090|623091|623092|623093|623094|623095|789741|789742|859501|964270|980607|980608|980609|980610|980611", + "upstreamId": "420424|420425|420426|495307|514534|623090|623091|623092|623093|623094|623095|789741|789742|859501|964270|980607|980608|980609|980610|980611", "text": "Rahman syndrome" }, { - "baseId": "420976|798517|971282", + "upstreamId": "420976|798517|971282", "text": "Mitochondrial complex 1 deficiency, nuclear type 31" }, { - "baseId": "421143", + "upstreamId": "421143", "text": "Hemolytic disease of fetus OR newborn due to isoimmunization" }, { - "baseId": "421201", + "upstreamId": "421201", "text": "PINK1-Related Parkinsonism" }, { - "baseId": "421463|977332", + "upstreamId": "421463|977332", "text": "IMMUNODEFICIENCY 75" }, { - "baseId": "421583|421584|428609|915027", + "upstreamId": "421583|421584|428609|915027", "text": "Sialidosis" }, { - "baseId": "421732", + "upstreamId": "421732", "text": "Shone complex" }, { - "baseId": "421904", + "upstreamId": "421904", "text": "MED13L-Related Disorder" }, { - "baseId": "422029", + "upstreamId": "422029", "text": "Wide nasal bridge" }, { - "baseId": "422029", + "upstreamId": "422029", "text": "Wide mouth" }, { - "baseId": "422068", + "upstreamId": "422068", "text": "IGF1R-Related Disorder" }, { - "baseId": "422479|434694", + "upstreamId": "422479|434694", "text": "DDX3X-Related Disorder" }, { - "baseId": "422802|424255", + "upstreamId": "422802|424255", "text": "Familial hematuria" }, { - "baseId": "423091|423234|432254|432256", + "upstreamId": "423091|423234|432254|432256", "text": "Combined oxidative phosphorylation deficiency 32" }, { - "baseId": "423403|423404|423405|806438|919990|965239", + "upstreamId": "423403|423404|423405|806438|919990|965239", "text": "MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35" }, { - "baseId": "423700|423701|423702|423703|423704|801579|919504|964858", + "upstreamId": "423700|423701|423702|423703|423704|801579|919504|964858", "text": "Gabriele de Vries syndrome" }, { - "baseId": "423705|423706|495432|615970|615971|615972|615973|615974|626452", + "upstreamId": "423705|423706|495432|615970|615971|615972|615973|615974|626452", "text": "Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy" }, { - "baseId": "424016|424017", + "upstreamId": "424016|424017", "text": "Meier-Gorlin syndrome 8" }, { - "baseId": "424018", + "upstreamId": "424018", "text": "Perrault syndrome 6" }, { - "baseId": "424176|424177|424178|424179|462340|526505|571044|575495|640489|777938|778180|784235|784236|784237|791183|839142|919398|956710|967274", + "upstreamId": "424176|424177|424178|424179|462340|526505|571044|575495|640489|777938|778180|784235|784236|784237|791183|839142|919398|956710|967274", "text": "Cohen-Gibson syndrome" }, { - "baseId": "424180|581883|800967|800968|800969|964879|969135", + "upstreamId": "424180|581883|800967|800968|800969|964879|969135", "text": "Imagawa-Matsumoto syndrome" }, { - "baseId": "424219", + "upstreamId": "424219", "text": "Spinocerebellar ataxia 37" }, { - "baseId": "424232|424235", + "upstreamId": "424232|424235", "text": "Meckel syndrome 13" }, { - "baseId": "424250|424251|481459|511001|798659", + "upstreamId": "424250|424251|481459|511001|798659", "text": "Ichthyosis, congenital, autosomal recessive 13" }, { - "baseId": "424262|794103|794105|794106|794107|794108|800763|961649|964272|970495", + "upstreamId": "424262|794103|794105|794106|794107|794108|800763|961649|964272|970495", "text": "Poirier-Bienvenu neurodevelopmental syndrome" }, { - "baseId": "424349|622944", + "upstreamId": "424349|622944", "text": "Intellectual developmental disorder with severe speech and ambulation defects" }, { - "baseId": "424349|622944", + "upstreamId": "424349|622944", "text": "ACTL6B-related dominant intellectual disability" }, { - "baseId": "424352|535688|535690|790531|798556|815981|816016|962039|962040|962041|962042|962043|962044|962045", + "upstreamId": "424352|535688|535690|790531|798556|815981|816016|962039|962040|962041|962042|962043|962044|962045", "text": "Developmental and epileptic encephalopathy, 65" }, { - "baseId": "424366|424367", + "upstreamId": "424366|424367", "text": "Progressive childhood encephalopathy" }, { - "baseId": "424366|424367|432365", + "upstreamId": "424366|424367|432365", "text": "Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome" }, { - "baseId": "424368|424369", + "upstreamId": "424368|424369", "text": "RHD DEL" }, { - "baseId": "424370", + "upstreamId": "424370", "text": "RhD negative" }, { - "baseId": "424384|424385|424386|424387|424388|802168|858559|974515|977236", + "upstreamId": "424384|424385|424386|424387|424388|802168|858559|974515|977236", "text": "Congenital nonprogressive myopathy with Moebius and Robin sequences" }, { - "baseId": "424393|424394|424395|798974|798975|798976", + "upstreamId": "424393|424394|424395|798974|798975|798976", "text": "Neutropenia, severe congenital, 8, autosomal dominant" }, { - "baseId": "424396|610523|681600|794276", + "upstreamId": "424396|610523|681600|794276", "text": "Progressive spastic paraparesis" }, { - "baseId": "424406|424407|424408|424409|424410|424411|424412|424413|590297", + "upstreamId": "424406|424407|424408|424409|424410|424411|424412|424413|590297", "text": "Nephrotic syndrome type 14" }, { - "baseId": "424439|961889|983748", + "upstreamId": "424439|961889|983748", "text": "Immunodeficiency 53" }, { - "baseId": "424464|424466|424467|424468|424469|550895|550896|964292", + "upstreamId": "424464|424466|424467|424468|424469|550895|550896|964292", "text": "Intellectual disability, autosomal dominant 54" }, { - "baseId": "424475", + "upstreamId": "424475", "text": "Spinocerebellar ataxia, autosomal recessive 25" }, { - "baseId": "424476|424477|424478|424479|424480|513770|513771|513772|513773|513774|513775", + "upstreamId": "424476|424477|424478|424479|424480|513770|513771|513772|513773|513774|513775", "text": "Spermatogenic failure 19" }, { - "baseId": "424481|513776|513777|513778|513779|513780", + "upstreamId": "424481|513776|513777|513778|513779|513780", "text": "Spermatogenic failure 20" }, { - "baseId": "424569", + "upstreamId": "424569", "text": "Caused by mutation in the tafazzin gene" }, { - "baseId": "424570|424571|424572|424573|798682", + "upstreamId": "424570|424571|424572|424573|798682", "text": "Maleylacetoacetate isomerase deficiency" }, { - "baseId": "424574|424575", + "upstreamId": "424574|424575", "text": "Mosaic variegated aneuploidy syndrome 3" }, { - "baseId": "424578", + "upstreamId": "424578", "text": "Birk-Landau-Perez syndrome" }, { - "baseId": "424588|424589|424590|424591|424592|424593|424594|424595|424596|424597|514213|519403|553302|861283|980693", + "upstreamId": "424588|424589|424590|424591|424592|424593|424594|424595|424596|424597|514213|519403|553302|861283|980693", "text": "Postnatal microcephaly" }, { - "baseId": "424641", + "upstreamId": "424641", "text": "Autism Spectrum Disorder with Intellectual Disability" }, { - "baseId": "424655|576113", + "upstreamId": "424655|576113", "text": "Non-syndromic intellectual disability" }, { - "baseId": "424689", + "upstreamId": "424689", "text": "Anencephalus" }, { - "baseId": "424698|614143|614178|614179|974444|984021|984022|984023|984024|984025", + "upstreamId": "424698|614143|614178|614179|974444|984021|984022|984023|984024|984025", "text": "Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome" }, { - "baseId": "424702|487068|622775", + "upstreamId": "424702|487068|622775", "text": "Spinal muscular atrophy, type IV" }, { - "baseId": "424703|424704", + "upstreamId": "424703|424704", "text": "GARS-associated growth retardation and developmental delay" }, { - "baseId": "424908|424909|424910|424911|626166|790657|919051|919052|919053|963616|964281|967269|972719|976653", + "upstreamId": "424908|424909|424910|424911|626166|790657|919051|919052|919053|963616|964281|967269|972719|976653", "text": "Intellectual disability, autosomal dominant 46" }, { - "baseId": "424936", + "upstreamId": "424936", "text": "Amelogenesis imperfecta type 3B" }, { - "baseId": "424937|424939|424961|424962", + "upstreamId": "424937|424939|424961|424962", "text": "Microcephaly-micromelia syndrome" }, { - "baseId": "424937|424938|424939|424941|424942|424943|424961|481361|578579|966013", + "upstreamId": "424937|424938|424939|424941|424942|424943|424961|481361|578579|966013", "text": "Microcephaly, short stature, and limb abnormalities" }, { - "baseId": "424950", + "upstreamId": "424950", "text": "Deafness, autosomal dominant 72" }, { - "baseId": "424951|959511", + "upstreamId": "424951|959511", "text": "Deafness, autosomal dominant 71" }, { - "baseId": "424952|424953|424954|424955", + "upstreamId": "424952|424953|424954|424955", "text": "Polycystic kidney disease 5" }, { - "baseId": "424972|857683|858272", + "upstreamId": "424972|857683|858272", "text": "Deafness, autosomal recessive 110" }, { - "baseId": "424991|581220|581221|581222|581223|977261", + "upstreamId": "424991|581220|581221|581222|581223|977261", "text": "SYT1-associated neurodevelopmental disorder" }, { - "baseId": "424991|581220|581221|581222|581223|816476", + "upstreamId": "424991|581220|581221|581222|581223|816476", "text": "Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome" }, { - "baseId": "425202", + "upstreamId": "425202", "text": "Thin skin" }, { - "baseId": "425202", + "upstreamId": "425202", "text": "Hyperlaxity" }, { - "baseId": "425203|818745", + "upstreamId": "425203|818745", "text": "facial dysmorphism" }, { - "baseId": "425259|425260|425261|614315|614316", + "upstreamId": "425259|425260|425261|614315|614316", "text": "Nephrotic syndrome type 15" }, { - "baseId": "425263", + "upstreamId": "425263", "text": "CROMER BLOOD GROUP SYSTEM, Dr(a-) PHENOTYPE" }, { - "baseId": "425299|626151|699131|799031|970812", + "upstreamId": "425299|626151|699131|799031|970812", "text": "Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features" }, { - "baseId": "425299", + "upstreamId": "425299", "text": "ZSWIM6 related intellectual disability" }, { - "baseId": "425378", + "upstreamId": "425378", "text": "PARS2-related disorder" }, { - "baseId": "425459", + "upstreamId": "425459", "text": "Diabetes mellitus, insulin-dependent, 12" }, { - "baseId": "425459", + "upstreamId": "425459", "text": "Hashimoto thyroiditis" }, { - "baseId": "425461|425462", + "upstreamId": "425461|425462", "text": "UNC80-Related Disorder" }, { - "baseId": "425496", + "upstreamId": "425496", "text": "NRXN-Related Disorder" }, { - "baseId": "425580|797926|970256|970269|970270|970323|970324|970325|970326|970327|970328|970347|970348", + "upstreamId": "425580|797926|970256|970269|970270|970323|970324|970325|970326|970327|970328|970347|970348", "text": "Moyamoya angiopathy with developmental delay" }, { - "baseId": "425622", + "upstreamId": "425622", "text": "PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation" }, { - "baseId": "425633", + "upstreamId": "425633", "text": "GABRG2-Related Disorder" }, { - "baseId": "425650", + "upstreamId": "425650", "text": "MEF2C-Related Disorder" }, { - "baseId": "425770|626366", + "upstreamId": "425770|626366", "text": "Predisposition to dissection" }, { - "baseId": "425924|550207|550208|919363|970655", + "upstreamId": "425924|550207|550208|919363|970655", "text": "Osteogenesis imperfecta, type xvi" }, { - "baseId": "426479", + "upstreamId": "426479", "text": "HSD17B10-Related Disorder" }, { - "baseId": "426508|426509|426510|426511|426512|426513|439624|439625|677300|789935|789936|815976|918612|920137|970677|971237", + "upstreamId": "426508|426509|426510|426511|426512|426513|439624|439625|677300|789935|789936|815976|918612|920137|970677|971237", "text": "Skraban-Deardorff syndrome" }, { - "baseId": "426722", + "upstreamId": "426722", "text": "Feingold syndrome 2" }, { - "baseId": "426758|426759", + "upstreamId": "426758|426759", "text": "Schizophrenia 19" }, { - "baseId": "427102|622035|905842|917751", + "upstreamId": "427102|622035|905842|917751", "text": "Autosomal dominant non-syndromic sensorineural deafness type DFNA" }, { - "baseId": "427102", + "upstreamId": "427102", "text": "Deafness, autosomal dominant 74" }, { - "baseId": "427103|427104|504286", + "upstreamId": "427103|427104|504286", "text": "Deafness, autosomal recessive 106" }, { - "baseId": "427105|427106|539092", + "upstreamId": "427105|427106|539092", "text": "Spinocerebellar ataxia, autosomal recessive 26" }, { - "baseId": "427834", + "upstreamId": "427834", "text": "Epilepsy due to perinatal stroke" }, { - "baseId": "429028|429029", + "upstreamId": "429028|429029", "text": "Pseudohermaphroditism male with gynecomastia" }, { - "baseId": "429533", + "upstreamId": "429533", "text": "DYNC1H1-related disorders" }, { - "baseId": "429594|590038|677229|800788|801072", + "upstreamId": "429594|590038|677229|800788|801072", "text": "Hypothyroidism" }, { - "baseId": "429767|643927|818781|818782|818783|818784|818785|818786|822289|822290|822291|822292", + "upstreamId": "429767|643927|818781|818782|818783|818784|818785|818786|822289|822290|822291|822292", "text": "Familial Interstitial Pneumonia" }, { - "baseId": "429767|643927|818781|818782|818783|818784|818785|818786|822289|822290|822291|822292", + "upstreamId": "429767|643927|818781|818782|818783|818784|818785|818786|822289|822290|822291|822292", "text": "Pulmonary fibrosis" }, { - "baseId": "430955", + "upstreamId": "430955", "text": "46,XX sex reversal, type 1" }, { - "baseId": "431406|431407|431408", + "upstreamId": "431406|431407|431408", "text": "Deafness, autosomal recessive 107" }, { - "baseId": "431409|625969|625972|965219", + "upstreamId": "431409|625969|625972|965219", "text": "Polydactyly, postaxial, type a7" }, { - "baseId": "431425|431426|431427|481435|513700|513701|513702|513703|550577|589824|654112|798458|818157|818158|858866|963117|980300", + "upstreamId": "431425|431426|431427|481435|513700|513701|513702|513703|550577|589824|654112|798458|818157|818158|858866|963117|980300", "text": "Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay" }, { - "baseId": "431489|904914", + "upstreamId": "431489|904914", "text": "Spondyloepimetaphyseal dysplasia, di rocco type" }, { - "baseId": "431493|492638|614352|679181|969248", + "upstreamId": "431493|492638|614352|679181|969248", "text": "Cerebellar atrophy, developmental delay, and seizures" }, { - "baseId": "431494", + "upstreamId": "431494", "text": "Spermatogenic failure 21" }, { - "baseId": "431495|431496|553288|590786|906273", + "upstreamId": "431495|431496|553288|590786|906273", "text": "Hydranencephaly with renal aplasia-dysplasia" }, { - "baseId": "431510", + "upstreamId": "431510", "text": "Deafness, autosomal recessive 108" }, { - "baseId": "431518|431519|431520|431521|431522|431523|434077|513812|513813|513814|513845|513846|513847|550353|621148|790338|970756|983302", + "upstreamId": "431518|431519|431520|431521|431522|431523|434077|513812|513813|513814|513845|513846|513847|550353|621148|790338|970756|983302", "text": "Intellectual disability, autosomal dominant 47" }, { - "baseId": "431537", + "upstreamId": "431537", "text": "UBTF E210K Neuroregression Syndrome" }, { - "baseId": "431537|919730|971079", + "upstreamId": "431537|919730|971079", "text": "Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder" }, { - "baseId": "431537", + "upstreamId": "431537", "text": "Infantile or childhood onset neurodegenerative disease, global developmental delay, and intellectual disability" }, { - "baseId": "431537", + "upstreamId": "431537", "text": "UBTF-Related Disorder" }, { - "baseId": "431537", + "upstreamId": "431537", "text": "Rare syndromic intellectual disability" }, { - "baseId": "431554", + "upstreamId": "431554", "text": "Empty follicle syndrome" }, { - "baseId": "431554|676995|683219", + "upstreamId": "431554|676995|683219", "text": "Oocyte maturation defect 3" }, { - "baseId": "431877|682738", + "upstreamId": "431877|682738", "text": "Hypomagnesemia" }, { - "baseId": "431889", + "upstreamId": "431889", "text": "Hypoplastic right heart syndrome" }, { - "baseId": "431921", + "upstreamId": "431921", "text": "Tubulinopathy" }, { - "baseId": "431934", + "upstreamId": "431934", "text": "Learning difficulty" }, { - "baseId": "431979|431980", + "upstreamId": "431979|431980", "text": "Joint laxity, short stature, and myopia" }, { - "baseId": "431981|431982|613764|613765|613766", + "upstreamId": "431981|431982|613764|613765|613766", "text": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3" }, { - "baseId": "432221|432222", + "upstreamId": "432221|432222", "text": "Cortical gyral simplification" }, { - "baseId": "432248", + "upstreamId": "432248", "text": "Inclusion body myositis" }, { - "baseId": "432257|432258|432259|963165", + "upstreamId": "432257|432258|432259|963165", "text": "Helix syndrome" }, { - "baseId": "432263|536175|536176|536177|536178|919379", + "upstreamId": "432263|536175|536176|536177|536178|919379", "text": "Coffin-Siris syndrome 7" }, { - "baseId": "432287", + "upstreamId": "432287", "text": "Microalbuminuria" }, { - "baseId": "432287", + "upstreamId": "432287", "text": "Macroscopic hematuria" }, { - "baseId": "432334|590099", + "upstreamId": "432334|590099", "text": "Kyphosis" }, { - "baseId": "432368|432369|610999|611000|611003", + "upstreamId": "432368|432369|610999|611000|611003", "text": "Galloway-Mowat syndrome 6" }, { - "baseId": "432405", + "upstreamId": "432405", "text": "SMALL ROUND CELL TUMOR" }, { - "baseId": "432414", + "upstreamId": "432414", "text": "YOLK SAC TUMOR AND HIGH-GRADE IMMATURE TERATOMA" }, { - "baseId": "432421", + "upstreamId": "432421", "text": "Desmoplastic small round cell tumor" }, { - "baseId": "432435|432436|432437|539972|539973|790752|798591", + "upstreamId": "432435|432436|432437|539972|539973|790752|798591", "text": "Developmental and epileptic encephalopathy, 56" }, { - "baseId": "432446|432447|432448|788851|919368", + "upstreamId": "432446|432447|432448|788851|919368", "text": "Blepharocheilodontic syndrome 2" }, { - "baseId": "432464|432465|432466|432467|432468|495073|513405|581219|672003|818380|965267|965268|965269|975902|975903", + "upstreamId": "432464|432465|432466|432467|432468|495073|513405|581219|672003|818380|965267|965268|965269|975902|975903", "text": "Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome" }, { - "baseId": "432485|432486|432487|440927", + "upstreamId": "432485|432486|432487|440927", "text": "Spinocerebellar ataxia 44" }, { - "baseId": "432670", + "upstreamId": "432670", "text": "HEMOGLOBIN TAK" }, { - "baseId": "433599|609692|682779|682780|682781|700562|799533|799535|799536|981620|981621|981622|981623", + "upstreamId": "433599|609692|682779|682780|682781|700562|799533|799535|799536|981620|981621|981622|981623", "text": "Hemolytic anemia due to glutathione reductase deficiency" }, { - "baseId": "434381|434382|434383|434384|802215", + "upstreamId": "434381|434382|434383|434384|802215", "text": "Al Kaissi syndrome" }, { - "baseId": "434385|623122", + "upstreamId": "434385|623122", "text": "Spermatogenic failure 23" }, { - "baseId": "434386", + "upstreamId": "434386", "text": "Spermatogenic failure 22" }, { - "baseId": "434421|434422|481490|481491|800133|903634", + "upstreamId": "434421|434422|481490|481491|800133|903634", "text": "3-methylglutaconic aciduria type 9" }, { - "baseId": "434424", + "upstreamId": "434424", "text": "Methylmalonic aciduria of the cblA complementation type" }, { - "baseId": "434499|434500", + "upstreamId": "434499|434500", "text": "Hypertryptophanemia, familial" }, { - "baseId": "434518|578431|672236|672237|681867|805080", + "upstreamId": "434518|578431|672236|672237|681867|805080", "text": "Diencephalic-mesencephalic junction dysplasia syndrome 1" }, { - "baseId": "434541", + "upstreamId": "434541", "text": "Familial early-onset deep venous thrombosis" }, { - "baseId": "434542|434543|434544|434545|434546|434547|434548|583074|798453|964795|964796|974507", + "upstreamId": "434542|434543|434544|434545|434546|434547|434548|583074|798453|964795|964796|974507", "text": "Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures" }, { - "baseId": "434549|626090", + "upstreamId": "434549|626090", "text": "Neurodevelopmental disorder with microcephaly, ataxia, and seizures" }, { - "baseId": "434570|672135", + "upstreamId": "434570|672135", "text": "Chromosome 2q23.1 deletion syndrome" }, { - "baseId": "434572", + "upstreamId": "434572", "text": "SCN3A- Related Disorder" }, { - "baseId": "434576", + "upstreamId": "434576", "text": "STAT1-Related Disorder" }, { - "baseId": "434585", + "upstreamId": "434585", "text": "SCN10A-Related Disorder" }, { - "baseId": "434586", + "upstreamId": "434586", "text": "FLNB-Related Disorder" }, { - "baseId": "434592|789738|918157|918158|918159|918161|964818", + "upstreamId": "434592|789738|918157|918158|918159|918161|964818", "text": "Neurodevelopmental disorder with language impairment and behavioral abnormalities" }, { - "baseId": "434597", + "upstreamId": "434597", "text": "MATR3-Related Disorder" }, { - "baseId": "434599|538375", + "upstreamId": "434599|538375", "text": "Spinocerebellar ataxia, autosomal recessive 28" }, { - "baseId": "434634|622048|622049|622050", + "upstreamId": "434634|622048|622049|622050", "text": "Neurooculocardiogenitourinary syndrome" }, { - "baseId": "434644|583122", + "upstreamId": "434644|583122", "text": "LTBP2-related Disorder" }, { - "baseId": "434665", + "upstreamId": "434665", "text": "MYOM1-related disorder" }, { - "baseId": "434670", + "upstreamId": "434670", "text": "DNMT1-Related Disorder" }, { - "baseId": "434674", + "upstreamId": "434674", "text": "Cutis Laxa Syndrome" }, { - "baseId": "434676", + "upstreamId": "434676", "text": "Periodic fever syndrome" }, { - "baseId": "434685", + "upstreamId": "434685", "text": "ACO2-related disorder" }, { - "baseId": "434686", + "upstreamId": "434686", "text": "ACO2-related disorders" }, { - "baseId": "434693", + "upstreamId": "434693", "text": "SMS-Related Disorder" }, { - "baseId": "434697", + "upstreamId": "434697", "text": "mtDNA-related disorders" }, { - "baseId": "434698|434699|434700", + "upstreamId": "434698|434699|434700", "text": "Mitochondrial DNA-related disorder" }, { - "baseId": "434734", + "upstreamId": "434734", "text": "TANGO2-Related disorder" }, { - "baseId": "434747", + "upstreamId": "434747", "text": "X-linked intellectual disability syndrome" }, { - "baseId": "434791", + "upstreamId": "434791", "text": "Arteriosclerosis" }, { - "baseId": "434791|622024|622025|622026|622027|672087", + "upstreamId": "434791|622024|622025|622026|622027|672087", "text": "Coronary artery disease" }, { - "baseId": "434864", + "upstreamId": "434864", "text": "Chromosome 10q22.3-q23.2 deletion syndrome" }, { - "baseId": "434869|434870|434871|434872|677458|677459|791826", + "upstreamId": "434869|434870|434871|434872|677458|677459|791826", "text": "Auditory neuropathy-optic atrophy syndrome" }, { - "baseId": "434873|434874|434875|434876|434877|434878", + "upstreamId": "434873|434874|434875|434876|434877|434878", "text": "Combined oxidative phosphorylation deficiency 33" }, { - "baseId": "434897", + "upstreamId": "434897", "text": "46,XX gonadal dysgenesis" }, { - "baseId": "434897|488076", + "upstreamId": "434897|488076", "text": "Ovarian dysgenesis 7" }, { - "baseId": "434925|434926|434927|434928|434929|488121|513416|590463|790427|800681|918867", + "upstreamId": "434925|434926|434927|434928|434929|488121|513416|590463|790427|800681|918867", "text": "Epileptic encephalopathy, infantile or early childhood 1" }, { - "baseId": "434934|921225|963440", + "upstreamId": "434934|921225|963440", "text": "Neuronopathy, distal hereditary motor, type 9" }, { - "baseId": "437661|801263|801264|801265|801266", + "upstreamId": "437661|801263|801264|801265|801266", "text": "Neoplasm of head and neck" }, { - "baseId": "437687|437688|437689|437690|437691|437692|437693|437694|539976|539977", + "upstreamId": "437687|437688|437689|437690|437691|437692|437693|437694|539976|539977", "text": "Oocyte maturation defect 4" }, { - "baseId": "437698", + "upstreamId": "437698", "text": "Deafness, X-linked" }, { - "baseId": "438508", + "upstreamId": "438508", "text": "Familial isolated restrictive cardiomyopathy" }, { - "baseId": "438512|438513|438514", + "upstreamId": "438512|438513|438514", "text": "Galloway-Mowat syndrome 2, X-linked" }, { - "baseId": "438518|438519|790768|815920|963060|963061|963062|963063|963064|963066|964666", + "upstreamId": "438518|438519|790768|815920|963060|963061|963062|963063|963064|963066|964666", "text": "Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease" }, { - "baseId": "438522|438523|438524|438525", + "upstreamId": "438522|438523|438524|438525", "text": "Galloway-Mowat syndrome 4" }, { - "baseId": "438526|438527", + "upstreamId": "438526|438527", "text": "Galloway-Mowat syndrome 5" }, { - "baseId": "438528|438529|438530|438531|438532|438533|438534|438535|590309|962736|962737", + "upstreamId": "438528|438529|438530|438531|438532|438533|438534|438535|590309|962736|962737", "text": "Galloway-Mowat syndrome 3" }, { - "baseId": "438536", + "upstreamId": "438536", "text": "Facial palsy, congenital, with ptosis and velopharyngeal dysfunction" }, { - "baseId": "438551|677465", + "upstreamId": "438551|677465", "text": "Uruguay faciocardiomusculoskeletal syndrome" }, { - "baseId": "438552|438553|438554|438555|438556|438557|614091|678066|963150", + "upstreamId": "438552|438553|438554|438555|438556|438557|614091|678066|963150", "text": "Intellectual disability, autosomal dominant 48" }, { - "baseId": "439194|961520", + "upstreamId": "439194|961520", "text": "POLR3A-related neurological disorders" }, { - "baseId": "439220", + "upstreamId": "439220", "text": "SPECC1L-related syndrome" }, { - "baseId": "439459", + "upstreamId": "439459", "text": "Erythrokeratodermia variabilis et progressiva 5" }, { - "baseId": "439483|439484|439485|439486|439487|439488|481645|611381|611382|790205|790206|790207|790208|800918|805296|861563|861565|918748|918749|918750|918751|964196|964197|972712", + "upstreamId": "439483|439484|439485|439486|439487|439488|481645|611381|611382|790205|790206|790207|790208|800918|805296|861563|861565|918748|918749|918750|918751|964196|964197|972712", "text": "Clark-Baraitser syndrome" }, { - "baseId": "439491|439492|439493|439494|439495", + "upstreamId": "439491|439492|439493|439494|439495", "text": "Joubert syndrome 31" }, { - "baseId": "439497|624047", + "upstreamId": "439497|624047", "text": "Hyperuricemic nephropathy, familial juvenile, 3" }, { - "baseId": "439505|439506|439507", + "upstreamId": "439505|439506|439507", "text": "Myopathy, centronuclear, 6, with fiber-type disproportion" }, { - "baseId": "439523", + "upstreamId": "439523", "text": "Mitochondrial DNA depletion syndrome 19" }, { - "baseId": "439562|439563", + "upstreamId": "439562|439563", "text": "Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome" }, { - "baseId": "439564|539041|917096|976524|976592", + "upstreamId": "439564|539041|917096|976524|976592", "text": "Alkaline ceramidase 3 deficiency" }, { - "baseId": "439567|439584|439585", + "upstreamId": "439567|439584|439585", "text": "Spliceosomepathy" }, { - "baseId": "439568|439569|439570|439571|439572|962920|964353", + "upstreamId": "439568|439569|439570|439571|439572|962920|964353", "text": "Neurodevelopmental disorder with or without seizures and gait abnormalities" }, { - "baseId": "439573|488084", + "upstreamId": "439573|488084", "text": "Neurodevelopmental disorder with poor language and loss of hand skills" }, { - "baseId": "439580|696579|707219|799200|799201|981313", + "upstreamId": "439580|696579|707219|799200|799201|981313", "text": "Immunodeficiency, common variable, 14" }, { - "baseId": "439618|963568|963569|964235|964236|965963|970493", + "upstreamId": "439618|963568|963569|964235|964236|965963|970493", "text": "Microcephaly 18, primary, autosomal dominant" }, { - "baseId": "439621|439622|439623|614176|800532", + "upstreamId": "439621|439622|439623|614176|800532", "text": "North Carolina macular dystrophy" }, { - "baseId": "439633|439634|439635|496932|513979", + "upstreamId": "439633|439634|439635|496932|513979", "text": "Iris coloboma" }, { - "baseId": "439648|439649|439650", + "upstreamId": "439648|439649|439650", "text": "JOUBERT SYNDROME 34" }, { - "baseId": "439651", + "upstreamId": "439651", "text": "Microphthalmia and cataract" }, { - "baseId": "439655|439656|962156|970800", + "upstreamId": "439655|439656|962156|970800", "text": "Spinocerebellar ataxia 45" }, { - "baseId": "439690|439691|624060|624061", + "upstreamId": "439690|439691|624060|624061", "text": "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5" }, { - "baseId": "439695|439696|439697|439698|439699", + "upstreamId": "439695|439696|439697|439698|439699", "text": "CALFAN syndrome" }, { - "baseId": "439695|439697|439698|439699|539035|679782|788852|963161", + "upstreamId": "439695|439697|439698|439699|539035|679782|788852|963161", "text": "Spinocerebellar ataxia, autosomal recessive 21" }, { - "baseId": "439700|621042|800836|800838", + "upstreamId": "439700|621042|800836|800838", "text": "Hereditary hearing loss and deafness" }, { - "baseId": "439702", + "upstreamId": "439702", "text": "CUP (carcinoma unknown primary) syndrome" }, { - "baseId": "439840|439841|919230", + "upstreamId": "439840|439841|919230", "text": "Intellectual disability, autosomal recessive 61" }, { - "baseId": "439842|439843", + "upstreamId": "439842|439843", "text": "Nephrotic syndrome type 16" }, { - "baseId": "439867|439868|962180", + "upstreamId": "439867|439868|962180", "text": "Fanconi anemia, complementation group W" }, { - "baseId": "439929", + "upstreamId": "439929", "text": "Spinal neurofibromas" }, { - "baseId": "440029|440030|440031|440032|440033|440034|440035|535229|550346|613826|622302|626094|788726|789855|961496", + "upstreamId": "440029|440030|440031|440032|440033|440034|440035|535229|550346|613826|622302|626094|788726|789855|961496", "text": "Intellectual disability, autosomal dominant 52" }, { - "baseId": "440039|440040|440041|550364|551680|551681|614526|614527|654136|791164|964368|973029", + "upstreamId": "440039|440040|440041|550364|551680|551681|614526|614527|654136|791164|964368|973029", "text": "Intellectual disability, autosomal dominant 51" }, { - "baseId": "440044|440045", + "upstreamId": "440044|440045", "text": "Inner ear Malformation" }, { - "baseId": "440064|496108", + "upstreamId": "440064|496108", "text": "Short-rib thoracic dysplasia 7/20 with polydactyly, digenic" }, { - "baseId": "440088|620162|620163", + "upstreamId": "440088|620162|620163", "text": "WDR19-Related Disorders" }, { - "baseId": "440166|440168|440180|440181|440209", + "upstreamId": "440166|440168|440180|440181|440209", "text": "Short-rib polydactyly syndrome type I" }, { - "baseId": "440239", + "upstreamId": "440239", "text": "Microcephaly 19, primary, autosomal recessive" }, { - "baseId": "440258|440335|919800", + "upstreamId": "440258|440335|919800", "text": "Gaze palsy, familial horizontal, with progressive scoliosis, 2" }, { - "baseId": "440258|440335|440336", + "upstreamId": "440258|440335|440336", "text": "Developmental Split Brain Syndrome" }, { - "baseId": "440400", + "upstreamId": "440400", "text": "Congenital hypomyelinating neuropathy" }, { - "baseId": "440416|871655|965244|965245|965246|965247|965248|965249|965250|965251|965252|965253|965254|965255|970043|970044|970045|970046|970047|970048|970049|970050|970051|970052|970053|970054|970055", + "upstreamId": "440416|871655|965244|965245|965246|965247|965248|965249|965250|965251|965252|965253|965254|965255|970043|970044|970045|970046|970047|970048|970049|970050|970051|970052|970053|970054|970055", "text": "Corticosteroid response" }, { - "baseId": "440711|464828|481389|514128|581923|581924|643075|652723|804981|804982|804983|804997|804998|805002|805003|805006|805010|805012|805013|805014|805015|805019|805025|805026|805028|805029|805030|805032|805035|805036|805037|805038|805039|805040|805041|805045|805048|805051|805057|805060|966293|966304", + "upstreamId": "440711|464828|481389|514128|581923|581924|643075|652723|804981|804982|804983|804997|804998|805002|805003|805006|805010|805012|805013|805014|805015|805019|805025|805026|805028|805029|805030|805032|805035|805036|805037|805038|805039|805040|805041|805045|805048|805051|805057|805060|966293|966304", "text": "Flexion contracture" }, { - "baseId": "440711", + "upstreamId": "440711", "text": "Tip-toe gait" }, { - "baseId": "442470|619886|619887|619888|619889", + "upstreamId": "442470|619886|619887|619888|619889", "text": "Reclassified - variant of unknown significance" }, { - "baseId": "442499|442500|442501|539036", + "upstreamId": "442499|442500|442501|539036", "text": "Geleophysic dysplasia 3" }, { - "baseId": "443137", + "upstreamId": "443137", "text": "SATB2-Related Disorder" }, { - "baseId": "443181|620066|620067", + "upstreamId": "443181|620066|620067", "text": "COL4A3-Related Disorders" }, { - "baseId": "443312|672043", + "upstreamId": "443312|672043", "text": "DCTN1-Related Disorder" }, { - "baseId": "443381|443382", + "upstreamId": "443381|443382", "text": "TBL1XR1-Related Disorder" }, { - "baseId": "443720|511578|622954|622956|622958|622959|622960|918931|918932", + "upstreamId": "443720|511578|622954|622956|622958|622959|622960|918931|918932", "text": "Brain abnormalities, neurodegeneration, and dysosteosclerosis" }, { - "baseId": "444422", + "upstreamId": "444422", "text": "Combined pituitary hormone deficiency type 3" }, { - "baseId": "444512", + "upstreamId": "444512", "text": "KANK1- Related Disorder" }, { - "baseId": "444973", + "upstreamId": "444973", "text": "CACNA1C-Related Disorder" }, { - "baseId": "445005", + "upstreamId": "445005", "text": "COL2A1-Related Disorder" }, { - "baseId": "445123|590074|590075", + "upstreamId": "445123|590074|590075", "text": "Neonatal respiratory distress" }, { - "baseId": "445590|624091", + "upstreamId": "445590|624091", "text": "PIGQ-related condition" }, { - "baseId": "445607|576321", + "upstreamId": "445607|576321", "text": "Microcephalic osteodysplastic dysplasia, Saul-Wilson type" }, { - "baseId": "446047|861654|938582", + "upstreamId": "446047|861654|938582", "text": "CACNA1A-related disorders" }, { - "baseId": "446049", + "upstreamId": "446049", "text": "CACNA1A-associated disorders" }, { - "baseId": "446050|626377", + "upstreamId": "446050|626377", "text": "CACNA1A-related condition" }, { - "baseId": "446193", + "upstreamId": "446193", "text": "Mitochondrial complex 1 deficiency, nuclear type 14" }, { - "baseId": "446266|961036", + "upstreamId": "446266|961036", "text": "Myoclonic absences" }, { - "baseId": "446266|514105|533574", + "upstreamId": "446266|514105|533574", "text": "developmental encephalopathy with epilepsy" }, { - "baseId": "446378|513479|513480|514780|540517|540518|540519|540520|540521|540522|590158|590159|590161|590162|622740|623590|679832|962128|966805", + "upstreamId": "446378|513479|513480|514780|540517|540518|540519|540520|540521|540522|590158|590159|590161|590162|622740|623590|679832|962128|966805", "text": "Noonan syndrome 2" }, { - "baseId": "446643", + "upstreamId": "446643", "text": "Protein avoidance" }, { - "baseId": "446643", + "upstreamId": "446643", "text": "Abnormality of ornithine metabolism" }, { - "baseId": "446829|446830|446831|446832|446833|446834|446835|609308|790786|790787", + "upstreamId": "446829|446830|446831|446832|446833|446834|446835|609308|790786|790787", "text": "Glycosylphosphatidylinositol biosynthesis defect 15" }, { - "baseId": "446836|446837", + "upstreamId": "446836|446837", "text": "Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter" }, { - "baseId": "446867|446868|446869|446870|446871|446872|446873|446874|446875|446876|446877|446878|446879|679804|906037|906220|906221|906222|906223|906224|906225|906226|906227|906228|906229|906229|962799|970548|977288", + "upstreamId": "446867|446868|446869|446870|446871|446872|446873|446874|446875|446876|446877|446878|446879|679804|906037|906220|906221|906222|906223|906224|906225|906226|906227|906228|906229|906229|962799|970548|977288", "text": "Renal hypodysplasia/aplasia 3" }, { - "baseId": "446892", + "upstreamId": "446892", "text": "Severe neonatal hypotonia improving with age" }, { - "baseId": "446893", + "upstreamId": "446893", "text": "Decreased activity of mitochondrial ATP synthase complex" }, { - "baseId": "446893|482269", + "upstreamId": "446893|482269", "text": "Mitochondrial complex 5 (ATP synthase) deficiency nuclear type 5" }, { - "baseId": "446900", + "upstreamId": "446900", "text": "Senior-Loken syndrome 3" }, { - "baseId": "447064|447144|514982|514986|515020|515026|515027|515047|515052|556556|556558|556589|556591|556851|556984|556986|626651|626652|626653|626654|626655|626656|706589|822564|822565|822566|822567|822568|822569|822570|822571|822572|822573|822574|921591|921592|921593|921594|921595|921596|921597|929978|929979|929980|929981|929982|941394|941395|952024|952025", + "upstreamId": "447064|447144|514982|514986|515020|515026|515027|515047|515052|556556|556558|556589|556591|556851|556984|556986|626651|626652|626653|626654|626655|626656|706589|822564|822565|822566|822567|822568|822569|822570|822571|822572|822573|822574|921591|921592|921593|921594|921595|921596|921597|929978|929979|929980|929981|929982|941394|941395|952024|952025", "text": "Autosomal recessive dyskeratosis congenita" }, { - "baseId": "447234", + "upstreamId": "447234", "text": "LMNA-Related Disorders" }, { - "baseId": "449094", + "upstreamId": "449094", "text": "Meckel-Gruber-like syndrome" }, { - "baseId": "450277|450434|517798|629320|686122|691015|691016|922527", + "upstreamId": "450277|450434|517798|629320|686122|691015|691016|922527", "text": "Nuclear pulverulent cataract" }, { - "baseId": "453161|453431|453534|519941|520189|562015|632204|651173|720980|734637|829151|923514|932338", + "upstreamId": "453161|453431|453534|519941|520189|562015|632204|651173|720980|734637|829151|923514|932338", "text": "T-cell immunodeficiency with epidermodysplasia verruciformis" }, { - "baseId": "454349|454859|454860|521018|521023|560061|562675|749203", + "upstreamId": "454349|454859|454860|521018|521023|560061|562675|749203", "text": "Decreased plasma carnitine" }, { - "baseId": "454863|454865|454875|455362|455367|455379|455384|455648|624878|633695|691812|698999|721361", + "upstreamId": "454863|454865|454875|455362|455367|455379|455384|455648|624878|633695|691812|698999|721361", "text": "Childhood absence epilepsy" }, { - "baseId": "454955|474385|954162", + "upstreamId": "454955|474385|954162", "text": "SDHA-Related Disorders" }, { - "baseId": "457782|549937|549942|636168|636169|700086|711001|711002|711003|711004|722538|736146|736150|736153|759581|933892|933893", + "upstreamId": "457782|549937|549942|636168|636169|700086|711001|711002|711003|711004|722538|736146|736150|736153|759581|933892|933893", "text": "Oxoglutaricaciduria" }, { - "baseId": "458792|513985|514023", + "upstreamId": "458792|513985|514023", "text": "Spontaneous, recurrent epistaxis" }, { - "baseId": "459866|612002", + "upstreamId": "459866|612002", "text": "Germinoma (disease)" }, { - "baseId": "461658|461663|526519|564906|566162|640435|640436|640437|713119|713120|724689|752935|838973|926380|935770|947651|947652", + "upstreamId": "461658|461663|526519|564906|566162|640435|640436|640437|713119|713120|724689|752935|838973|926380|935770|947651|947652", "text": "Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations" }, { - "baseId": "461713|526770|570721|640161|712902|712903|712905|738045|777955|838567|838568|838569|926278|926279|935601|935602|956534", + "upstreamId": "461713|526770|570721|640161|712902|712903|712905|738045|777955|838567|838568|838569|926278|926279|935601|935602|956534", "text": "Transcobalamin I deficiency" }, { - "baseId": "462563|462568|463332|463334|463444|463447|463449|463450|527450|527453|527472|527473|527477|527725|527726|527730|527732|527990|527997|528001|565832|565839|565844|565850|567143|567158|568248|572177|572182|572184|572189|641520|641521|641522|641523|641524|641525|641526|641527|641528|641529|641530|641531|641532|641533|641534|641535|641536|641537|652384|652801|713808|713809|725337|738919|744758|753681|769387|784514|820539|840493|840494|840495|840496|840497|840498|840499|840500|840501|840502|840503|840504|840505|840506|840507|840508|840509|840510|840511|840512|840513|926791|926792|926793|926794|926795|936325|936326|936327|936328|936329|948246|948247|948248|948249|948250|957014|960070", + "upstreamId": "462563|462568|463332|463334|463444|463447|463449|463450|527450|527453|527472|527473|527477|527725|527726|527730|527732|527990|527997|528001|565832|565839|565844|565850|567143|567158|568248|572177|572182|572184|572189|641520|641521|641522|641523|641524|641525|641526|641527|641528|641529|641530|641531|641532|641533|641534|641535|641536|641537|652384|652801|713808|713809|725337|738919|744758|753681|769387|784514|820539|840493|840494|840495|840496|840497|840498|840499|840500|840501|840502|840503|840504|840505|840506|840507|840508|840509|840510|840511|840512|840513|926791|926792|926793|926794|926795|936325|936326|936327|936328|936329|948246|948247|948248|948249|948250|957014|960070", "text": "Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency" }, { - "baseId": "464097|527988|527994|528040|642198|642201|714069|725621|739170|739171|769732|784680|841192|841193|841194|841195|841196|841197|841198|841199|926986|936553|936554|948482|948483|957178", + "upstreamId": "464097|527988|527994|528040|642198|642201|714069|725621|739170|739171|769732|784680|841192|841193|841194|841195|841196|841197|841198|841199|926986|936553|936554|948482|948483|957178", "text": "Specific granule deficiency" }, { - "baseId": "464622|961534", + "upstreamId": "464622|961534", "text": "KIF7-related ciliopathy spectrum disorder" }, { - "baseId": "466937|622851", + "upstreamId": "466937|622851", "text": "Absent inner and outer dynein arms" }, { - "baseId": "467572|467582|467583|467590|467596|467598|467600|467604|468420|468427|468433|468436|468890|468894|468903|468908|468919|468920|468922|468924|469176|469193|531854|531862|531863|531872|531873|531875|531877|531886|531888|531889|531899|531905|531912|531958|531959|531966|531975|531980|531987|532233|532240|532243|532248|532256|532259|532261|569803|569818|569827|571676|571677|571681|572348|572353|574642|574646|574649|574650|574652|574653|614446|646799|646805|646807|646809|646813|646815|646817|646818|646819|646820|646824|646829|715742|715743|715744|715745|715746|715747|727469|727470|727471|741070|741071|741072|741073|741075|741076|741077|741081|741082|741083|745084|756172|756174|756175|756177|756178|756179|756181|771868|771869|771876|771877|771878|776424|776542|780140|785767|785774|788190|846307|846308|846309|846310|846311|846312|846313|846314|846315|846316|846317|846318|846319|846320|846321|846322|846323|846324|846325|846326|846327|846328|846329|846330|846331|846332|846333|846334|846335|846336|846337|846338|846339|846340|846341|846342|846343|846344|846345|846346|846347|851757|852800|928562|928563|928564|928565|928566|928567|928568|928569|928570|928571|928572|928573|928574|928575|928576|928577|938246|938247|938248|938249|938250|938251|938252|938253|938254|938255|938256|938257|938258|938259|938260|938261|938262|938263|938264|940442|940443|940444|941203|950321|950322|950323|950324|950325|950326|950327|950328|950329|950330|950331|950332|950333|950334|950335|950336|950337|950338|958334|958335|958336|958337|958338|958339|958340|958341|960250|960251|960899|960900", + "upstreamId": "467572|467582|467583|467590|467596|467598|467600|467604|468420|468427|468433|468436|468890|468894|468903|468908|468919|468920|468922|468924|469176|469193|531854|531862|531863|531872|531873|531875|531877|531886|531888|531889|531899|531905|531912|531958|531959|531966|531975|531980|531987|532233|532240|532243|532248|532256|532259|532261|569803|569818|569827|571676|571677|571681|572348|572353|574642|574646|574649|574650|574652|574653|614446|646799|646805|646807|646809|646813|646815|646817|646818|646819|646820|646824|646829|715742|715743|715744|715745|715746|715747|727469|727470|727471|741070|741071|741072|741073|741075|741076|741077|741081|741082|741083|745084|756172|756174|756175|756177|756178|756179|756181|771868|771869|771876|771877|771878|776424|776542|780140|785767|785774|788190|846307|846308|846309|846310|846311|846312|846313|846314|846315|846316|846317|846318|846319|846320|846321|846322|846323|846324|846325|846326|846327|846328|846329|846330|846331|846332|846333|846334|846335|846336|846337|846338|846339|846340|846341|846342|846343|846344|846345|846346|846347|851757|852800|928562|928563|928564|928565|928566|928567|928568|928569|928570|928571|928572|928573|928574|928575|928576|928577|938246|938247|938248|938249|938250|938251|938252|938253|938254|938255|938256|938257|938258|938259|938260|938261|938262|938263|938264|940442|940443|940444|941203|950321|950322|950323|950324|950325|950326|950327|950328|950329|950330|950331|950332|950333|950334|950335|950336|950337|950338|958334|958335|958336|958337|958338|958339|958340|958341|960250|960251|960899|960900", "text": "Epidermodysplasia verruciformis" }, { - "baseId": "467804|468096|468293|531155|531158|531164|531165|531170|531174|531364|531366|531368|531420|531422|531427|531428|531641|531643|531649|531652|531666|571221|571225|571227|571533|571534|574500|646092|646093|646094|646095|646096|646097|646098|646099|646100|646101|646102|646103|646104|646105|646106|646107|652969|652972|727223|727224|727225|727226|740822|740823|744995|771590|785621|845498|845499|845500|845501|845502|845503|845504|845505|845506|845507|845508|845509|845510|845511|845512|845513|845514|852878|928343|928344|928345|928346|928347|928348|928349|937986|937987|937988|937989|937990|937991|937992|937993|937994|949977|949978|949979|949980|949981|958146", + "upstreamId": "467804|468096|468293|531155|531158|531164|531165|531170|531174|531364|531366|531368|531420|531422|531427|531428|531641|531643|531649|531652|531666|571221|571225|571227|571533|571534|574500|646092|646093|646094|646095|646096|646097|646098|646099|646100|646101|646102|646103|646104|646105|646106|646107|652969|652972|727223|727224|727225|727226|740822|740823|744995|771590|785621|845498|845499|845500|845501|845502|845503|845504|845505|845506|845507|845508|845509|845510|845511|845512|845513|845514|852878|928343|928344|928345|928346|928347|928348|928349|937986|937987|937988|937989|937990|937991|937992|937993|937994|949977|949978|949979|949980|949981|958146", "text": "NIK deficiency" }, { - "baseId": "469009|626445|626446|655042|679026|679062|679064|679065|679066|679067|679068|679074|679076|679077|679078|679086|679091|679104|679109|679114|679115|679126|679131|679135|679137|679139|679151|679154|679164|679166|679168|679169|679170", + "upstreamId": "469009|626445|626446|655042|679026|679062|679064|679065|679066|679067|679068|679074|679076|679077|679078|679086|679091|679104|679109|679114|679115|679126|679131|679135|679137|679139|679151|679154|679164|679166|679168|679169|679170", "text": "Esophageal atresia" }, { - "baseId": "469009|513978|655042|679026|679062|679064|679065|679066|679067|679068|679074|679076|679077|679078|679086|679091|679104|679109|679114|679115|679126|679131|679135|679137|679139|679151|679154|679164|679166|679168|679169|679170", + "upstreamId": "469009|513978|655042|679026|679062|679064|679065|679066|679067|679068|679074|679076|679077|679078|679086|679091|679104|679109|679114|679115|679126|679131|679135|679137|679139|679151|679154|679164|679166|679168|679169|679170", "text": "Pyloric stenosis" }, { - "baseId": "469648", + "upstreamId": "469648", "text": "SCN1B-Related Disorder" }, { - "baseId": "471580|965351|965352", + "upstreamId": "471580|965351|965352", "text": "Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia" }, { - "baseId": "471610|973014", + "upstreamId": "471610|973014", "text": "Complete trisomy 21 syndrome" }, { - "baseId": "472237|472238|472239|906188|970665", + "upstreamId": "472237|472238|472239|906188|970665", "text": "Glycosylphosphatidylinositol biosynthesis defect 16" }, { - "baseId": "472250|472251|472252", + "upstreamId": "472250|472251|472252", "text": "Myopia 26, X-linked, female-limited" }, { - "baseId": "472744", + "upstreamId": "472744", "text": "MSH2-related disorder" }, { - "baseId": "473799|550670", + "upstreamId": "473799|550670", "text": "Gastrointestinal stromal tumor of small intestine" }, { - "baseId": "473816", + "upstreamId": "473816", "text": "Papillary renal cell carcinoma" }, { - "baseId": "476010|476355", + "upstreamId": "476010|476355", "text": "Acroleukopathy, symmetric" }, { - "baseId": "476701", + "upstreamId": "476701", "text": "Polymerase proofreading associated polyposis" }, { - "baseId": "480423|682661|682662|682664|682665|682666|857384|983693", + "upstreamId": "480423|682661|682662|682664|682665|682666|857384|983693", "text": "Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies" }, { - "baseId": "480513|480514|536006|536007|536138|536160|536186|550148", + "upstreamId": "480513|480514|536006|536007|536138|536160|536186|550148", "text": "Rajab interstitial lung disease with brain calcifications" }, { - "baseId": "480531|480532|480533|480534|540434|540435", + "upstreamId": "480531|480532|480533|480534|540434|540435", "text": "Mitochondrial complex 1 deficiency, nuclear type 33" }, { - "baseId": "480548|480549|480550|581865", + "upstreamId": "480548|480549|480550|581865", "text": "Congenital ATN1 related disorder" }, { - "baseId": "480561|480562|480563|480564|964730|964732", + "upstreamId": "480561|480562|480563|480564|964730|964732", "text": "Combined immunodeficiency due to GINS1 deficiency" }, { - "baseId": "480578", + "upstreamId": "480578", "text": "Spondyloepimetaphyseal dysplasia, Shohat type" }, { - "baseId": "480602", + "upstreamId": "480602", "text": "Indifference to pain, congenital, autosomal dominant" }, { - "baseId": "480613|480614|480616|480617|480618|798801|964898", + "upstreamId": "480613|480614|480616|480617|480618|798801|964898", "text": "Basilicata-Akhtar syndrome" }, { - "baseId": "480624|481174|481175|589847|589848|589849|589850|589851", + "upstreamId": "480624|481174|481175|589847|589848|589849|589850|589851", "text": "Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome" }, { - "baseId": "480624|481174|481175", + "upstreamId": "480624|481174|481175", "text": "Inflammatory bowel disease, immunodeficiency, and encephalopathy" }, { - "baseId": "480785|480786|480787|480788|480789|480790|480791|480792|480793|480794|480795|480796|480797|480798|480799|480800|480801|480802|480803|480804|480805|480806|480807|480808|480809|480810|480811|480812|480813|480814|480815|480816|480817|612011|622842", + "upstreamId": "480785|480786|480787|480788|480789|480790|480791|480792|480793|480794|480795|480796|480797|480798|480799|480800|480801|480802|480803|480804|480805|480806|480807|480808|480809|480810|480811|480812|480813|480814|480815|480816|480817|612011|622842", "text": "Ependymoma" }, { - "baseId": "481073|481075|650514|973110|973111", + "upstreamId": "481073|481075|650514|973110|973111", "text": "Robinow syndrome, autosomal recessive 2" }, { - "baseId": "481074|481075|481076", + "upstreamId": "481074|481075|481076", "text": "Distal shortening of limbs" }, { - "baseId": "481083", + "upstreamId": "481083", "text": "Congenital short bowel syndrome, X-linked" }, { - "baseId": "481154", + "upstreamId": "481154", "text": "Alopecia-intellectual disability syndrome 1" }, { - "baseId": "481155", + "upstreamId": "481155", "text": "alpha, alpha-Trehalase deficiency" }, { - "baseId": "481159|481160", + "upstreamId": "481159|481160", "text": "Congenital disorder of glycosylation, type Ibb" }, { - "baseId": "481193|481194|481195|790985", + "upstreamId": "481193|481194|481195|790985", "text": "Amyotrophic lateral sclerosis type 23" }, { - "baseId": "481279|481280|963166", + "upstreamId": "481279|481280|963166", "text": "Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy" }, { - "baseId": "481308", + "upstreamId": "481308", "text": "Intellectual disability, seizures, abnormal gait and distinctive facial features" }, { - "baseId": "481328", + "upstreamId": "481328", "text": "X-linked recessive seizure and neurodevelopmental deficit" }, { - "baseId": "481523|481524", + "upstreamId": "481523|481524", "text": "Short-rib thoracic dysplasia 18 with polydactyly" }, { - "baseId": "481592", + "upstreamId": "481592", "text": "COL9A2-Related Disorders" }, { - "baseId": "481612|536235", + "upstreamId": "481612|536235", "text": "SCN2A-related disorder" }, { - "baseId": "481865|620819", + "upstreamId": "481865|620819", "text": "OPTN-Related Disorders" }, { - "baseId": "482055|513448|550329|575499|575500", + "upstreamId": "482055|513448|550329|575499|575500", "text": "IRF2BPL-related condition" }, { - "baseId": "482079|539426|539427|539428|677448|980899", + "upstreamId": "482079|539426|539427|539428|677448|980899", "text": "Cardiomyopathy, familial hypertrophic 27" }, { - "baseId": "482150|539420|539422|539423|539424|609317|609318|609319|609320|609321|609322|609323|609324|609325|609326|609327|609328|609329|609330|609331|609332|677456|798720|805975|816534|966892|966893|966894|966895|980382", + "upstreamId": "482150|539420|539422|539423|539424|609317|609318|609319|609320|609321|609322|609323|609324|609325|609326|609327|609328|609329|609330|609331|609332|677456|798720|805975|816534|966892|966893|966894|966895|980382", "text": "Mental retardation, autosomal dominant 57" }, { - "baseId": "482203|970255|970320|970351", + "upstreamId": "482203|970255|970320|970351", "text": "Rubinstein taybi like syndrome" }, { - "baseId": "482261", + "upstreamId": "482261", "text": "SMC1A-related cohesinopathy" }, { - "baseId": "482273", + "upstreamId": "482273", "text": "CACNA1H-related disorder" }, { - "baseId": "482290|587102", + "upstreamId": "482290|587102", "text": "Retinitis pigmentosa 81" }, { - "baseId": "482317", + "upstreamId": "482317", "text": "Combined oxidative phosphorylation deficiency 34" }, { - "baseId": "482318|482320|501889", + "upstreamId": "482318|482320|501889", "text": "Corneal dystrophy, posterior polymorphous 4" }, { - "baseId": "485862|508752|513224|980482", + "upstreamId": "485862|508752|513224|980482", "text": "Growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant" }, { - "baseId": "485877|485878|919212", + "upstreamId": "485877|485878|919212", "text": "Leber congenital amaurosis with early-onset deafness" }, { - "baseId": "485881", + "upstreamId": "485881", "text": "MFSD12 POLYMORPHISM" }, { - "baseId": "485952", + "upstreamId": "485952", "text": "Neoplasm of the central nervous system" }, { - "baseId": "486598|486599|486600|486601|486602", + "upstreamId": "486598|486599|486600|486601|486602", "text": "BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19" }, { - "baseId": "486669|486670", + "upstreamId": "486669|486670", "text": "Multiple synostoses syndrome 4" }, { - "baseId": "486675|486676", + "upstreamId": "486675|486676", "text": "SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY" }, { - "baseId": "486675|486676|486677|486678|550898", + "upstreamId": "486675|486676|486677|486678|550898", "text": "Short-rib thoracic dysplasia 19 with or without polydactyly" }, { - "baseId": "486695|919510|919511|974886", + "upstreamId": "486695|919510|919511|974886", "text": "Developmental and epileptic encephalopathy, 66" }, { - "baseId": "486703|550170", + "upstreamId": "486703|550170", "text": "Leukodystrophy, hypomyelinating, 14" }, { - "baseId": "486726|486727", + "upstreamId": "486726|486727", "text": "Pediatric metastatic thyroid tumour" }, { - "baseId": "486748|511754|535681|535682|535685|609309|788825|961289", + "upstreamId": "486748|511754|535681|535682|535685|609309|788825|961289", "text": "Developmental and epileptic encephalopathy, 64" }, { - "baseId": "486810|486811|486812|798663|816475|919463", + "upstreamId": "486810|486811|486812|798663|816475|919463", "text": "Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8" }, { - "baseId": "487471|487565|917021", + "upstreamId": "487471|487565|917021", "text": "Congenital heart disease (variable)" }, { - "baseId": "488076", + "upstreamId": "488076", "text": "Primary ovarian failure" }, { - "baseId": "488080|488081|488082|563452|836478", + "upstreamId": "488080|488081|488082|563452|836478", "text": "Early infantile epileptic encephalopathy 59" }, { - "baseId": "488085|488086", + "upstreamId": "488085|488086", "text": "Erythrocytosis, familial, 5" }, { - "baseId": "488087|976709", + "upstreamId": "488087|976709", "text": "Diamond-Blackfan anemia-like" }, { - "baseId": "488091|488092|488093|488094|965630", + "upstreamId": "488091|488092|488093|488094|965630", "text": "Congenital heart defects, multiple types, 5" }, { - "baseId": "488127", + "upstreamId": "488127", "text": "Islet cell adenomatosis" }, { - "baseId": "488146|488147|539094", + "upstreamId": "488146|488147|539094", "text": "Myotonic dystrophy" }, { - "baseId": "488173", + "upstreamId": "488173", "text": "Kala-azar susceptibility 2" }, { - "baseId": "489148", + "upstreamId": "489148", "text": "COL11A2-Related Disorders" }, { - "baseId": "489148|514005|966698|966716|966717", + "upstreamId": "489148|514005|966698|966716|966717", "text": "Short long bone" }, { - "baseId": "489148|966698|966727|966728|966729|966731", + "upstreamId": "489148|966698|966727|966728|966729|966731", "text": "Thickened nuchal skin fold" }, { - "baseId": "490222|801106", + "upstreamId": "490222|801106", "text": "Focal Segmental Glomerulosclerosis 10" }, { - "baseId": "492743|496667", + "upstreamId": "492743|496667", "text": "Fever-associated acute infantile liver failure syndrome" }, { - "baseId": "493436", + "upstreamId": "493436", "text": "SMAD3-Related Disorder" }, { - "baseId": "494917", + "upstreamId": "494917", "text": "Mild hemophilia A" }, { - "baseId": "494918|672075", + "upstreamId": "494918|672075", "text": "Neurodegeneration with brain iron accumulation 8" }, { - "baseId": "494920|494921|494922|494923|494924|494925|971580", + "upstreamId": "494920|494921|494922|494923|494924|494925|971580", "text": "Amyloidosis, primary localized cutaneous, 3" }, { - "baseId": "494926|494927|626156|626157", + "upstreamId": "494926|494927|626156|626157", "text": "Neurodegeneration with brain iron accumulation 7" }, { - "baseId": "495005|495006|495007|495008|495009|495010|495011|965270|966362", + "upstreamId": "495005|495006|495007|495008|495009|495010|495011|965270|966362", "text": "Microcephaly 20, primary, autosomal recessive" }, { - "baseId": "495473|963199|963200|963202|963203", + "upstreamId": "495473|963199|963200|963202|963203", "text": "Tolchin-Le Caignec syndrome" }, { - "baseId": "495535", + "upstreamId": "495535", "text": "PHIP-Related disorders" }, { - "baseId": "495552", + "upstreamId": "495552", "text": "CENPJ-Related Disorders" }, { - "baseId": "495916|495917|495918|495919", + "upstreamId": "495916|495917|495918|495919", "text": "Amyotrophic lateral sclerosis, susceptibility to, 25" }, { - "baseId": "495920", + "upstreamId": "495920", "text": "BLOOD GROUP, MN" }, { - "baseId": "496106|496107|496108", + "upstreamId": "496106|496107|496108", "text": "Short-rib thoracic dysplasia 20 with polydactyly" }, { - "baseId": "496109", + "upstreamId": "496109", "text": "Orofaciodigital syndrome 17" }, { - "baseId": "496109", + "upstreamId": "496109", "text": "Mohr syndrome" }, { - "baseId": "496318", + "upstreamId": "496318", "text": "Rare isolated myopia" }, { - "baseId": "496338", + "upstreamId": "496338", "text": "Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization" }, { - "baseId": "496684", + "upstreamId": "496684", "text": "Hypotonia-speech impairment-severe cognitive delay syndrome" }, { - "baseId": "496803", + "upstreamId": "496803", "text": "Immunodeficiency due to a late component of complement deficiency" }, { - "baseId": "497172", + "upstreamId": "497172", "text": "Respiratory distress associated with prematurity" }, { - "baseId": "497235", + "upstreamId": "497235", "text": "Hereditary ataxia" }, { - "baseId": "497421", + "upstreamId": "497421", "text": "Idiopathic bronchiectasis" }, { - "baseId": "497548", + "upstreamId": "497548", "text": "Hereditary methemoglobinemia" }, { - "baseId": "497913|538970|583089", + "upstreamId": "497913|538970|583089", "text": "Orofaciodigital syndrome 18" }, { - "baseId": "498462", + "upstreamId": "498462", "text": "Neurodevelopmental and congenital anomalies" }, { - "baseId": "504813", + "upstreamId": "504813", "text": "Cocaine-Related Disorders" }, { - "baseId": "508703|508704", + "upstreamId": "508703|508704", "text": "Keratoconus 9" }, { - "baseId": "508758", + "upstreamId": "508758", "text": "Autosomal-Recessive Hereditary Hearing Impairment" }, { - "baseId": "508759|508760|508761|508762|858724", + "upstreamId": "508759|508760|508761|508762|858724", "text": "Epilepsy, juvenile myoclonic, susceptibility to, 10" }, { - "baseId": "509021|509022|509023|789366|858343|858344|920100", + "upstreamId": "509021|509022|509023|789366|858343|858344|920100", "text": "Developmental and epileptic encephalopathy, 60" }, { - "baseId": "509054|509055", + "upstreamId": "509054|509055", "text": "Early infantile epileptic encephalopathy 61" }, { - "baseId": "510064", + "upstreamId": "510064", "text": "Narrow palate" }, { - "baseId": "510064", + "upstreamId": "510064", "text": "Abnormal vena cava morphology" }, { - "baseId": "510064", + "upstreamId": "510064", "text": "Aortic tortuosity" }, { - "baseId": "511233", + "upstreamId": "511233", "text": "H3F3A-related condition" }, { - "baseId": "511422|511423", + "upstreamId": "511422|511423", "text": "Rhizomelic limb shortening with dysmorphic features" }, { - "baseId": "511504|538359|583203|583204|608856|961413|964723|964724|970775", + "upstreamId": "511504|538359|583203|583204|608856|961413|964723|964724|970775", "text": "Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia" }, { - "baseId": "511615|969770|969781|969789|969791|969875|969877|969878", + "upstreamId": "511615|969770|969781|969789|969791|969875|969877|969878", "text": "Chromatinopathy" }, { - "baseId": "511653", + "upstreamId": "511653", "text": "CSNK2B-related intellectual disability with or without epilepsy" }, { - "baseId": "511804|551258|551259|551260|551261|798613|858741|861585|920263|964317", + "upstreamId": "511804|551258|551259|551260|551261|798613|858741|861585|920263|964317", "text": "Mental retardation, autosomal dominant 58" }, { - "baseId": "511875|792648|792649|792650|792651", + "upstreamId": "511875|792648|792649|792650|792651", "text": "Liang-Wang syndrome" }, { - "baseId": "511959", + "upstreamId": "511959", "text": "TRPV4-Associated Disorders" }, { - "baseId": "512291|512292", + "upstreamId": "512291|512292", "text": "Deafness, autosomal recessive 115" }, { - "baseId": "512310|513470|966802", + "upstreamId": "512310|513470|966802", "text": "Vertebral anomalies and variable endocrine and T-cell dysfunction" }, { - "baseId": "512539|590974|590977|619890|619891|619892|619893|619894|619895|792082|798772|805123|903646|919957|963939|964896|966601|970513|971166", + "upstreamId": "512539|590974|590977|619890|619891|619892|619893|619894|619895|792082|798772|805123|903646|919957|963939|964896|966601|970513|971166", "text": "Developmental delay with variable intellectual impairment and behavioral abnormalities" }, { - "baseId": "512732", + "upstreamId": "512732", "text": "DLG3-Related Disorder" }, { - "baseId": "513082|590296|861245|861246", + "upstreamId": "513082|590296|861245|861246", "text": "Proteinuria, chronic benign" }, { - "baseId": "513195", + "upstreamId": "513195", "text": "Seizures, benign familial infantile, 6" }, { - "baseId": "513197|513198|513455|624058|624059", + "upstreamId": "513197|513198|513455|624058|624059", "text": "Shwachman-Diamond syndrome 2" }, { - "baseId": "513201", + "upstreamId": "513201", "text": "Idiopathic transverse myelitis" }, { - "baseId": "513203", + "upstreamId": "513203", "text": "MICROTIA WITHOUT HEARING IMPAIRMENT" }, { - "baseId": "513215|513758|613404|984064", + "upstreamId": "513215|513758|613404|984064", "text": "Hereditary spherocytosis" }, { - "baseId": "513252", + "upstreamId": "513252", "text": "Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency" }, { - "baseId": "513287|539003|626168", + "upstreamId": "513287|539003|626168", "text": "Ullrich congenital muscular dystrophy" }, { - "baseId": "513347", + "upstreamId": "513347", "text": "Osteosclerotic metaphyseal dysplasia" }, { - "baseId": "513410", + "upstreamId": "513410", "text": "EVI5-related condition" }, { - "baseId": "513412", + "upstreamId": "513412", "text": "TRIP12 associated autism with facial dysmorphology" }, { - "baseId": "513423", + "upstreamId": "513423", "text": "ZNF292-related neurodevelopmental condition" }, { - "baseId": "513429|513430", + "upstreamId": "513429|513430", "text": "SNAPC4-associated inflammatory disease" }, { - "baseId": "513431|513432", + "upstreamId": "513431|513432", "text": "ABCA2-related condition" }, { - "baseId": "513435|513436", + "upstreamId": "513435|513436", "text": "AGTPBP1-related condition" }, { - "baseId": "513435|513436|590700|590701|590702|590703|590704|590705|971341|971342|973103", + "upstreamId": "513435|513436|590700|590701|590702|590703|590704|590705|971341|971342|973103", "text": "Neurodegeneration, childhood-onset, with cerebellar atrophy" }, { - "baseId": "513439", + "upstreamId": "513439", "text": "SPI1-related eosinophilia syndrome" }, { - "baseId": "513442|623048", + "upstreamId": "513442|623048", "text": "MYBPC1-related condition" }, { - "baseId": "513444", + "upstreamId": "513444", "text": "GDF11-associated multiple congenital anomalies and ID" }, { - "baseId": "513445", + "upstreamId": "513445", "text": "SMARCC2-related condition" }, { - "baseId": "513446|539441|539442", + "upstreamId": "513446|539441|539442", "text": "Proteasome-associated autoinflammatory syndrome 2" }, { - "baseId": "513453|513454|613433", + "upstreamId": "513453|513454|613433", "text": "Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination" }, { - "baseId": "513456|513457", + "upstreamId": "513456|513457", "text": "GLYR1-related condition" }, { - "baseId": "513461", + "upstreamId": "513461", "text": "USP7-related condition" }, { - "baseId": "513470", + "upstreamId": "513470", "text": "TBX2-related condition" }, { - "baseId": "513549|615790|677277|822295|970796", + "upstreamId": "513549|615790|677277|822295|970796", "text": "Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1" }, { - "baseId": "513600", + "upstreamId": "513600", "text": "DEND syndrome" }, { - "baseId": "513616", + "upstreamId": "513616", "text": "Xeroderma pigmentosum and Cockayne syndrome complex" }, { - "baseId": "513645|625967|625968", + "upstreamId": "513645|625967|625968", "text": "Pearson syndrome" }, { - "baseId": "513701", + "upstreamId": "513701", "text": "PBX1-related intellectual disability and pleiotropic developmental defects" }, { - "baseId": "513704|964899", + "upstreamId": "513704|964899", "text": "Intellectual disability, x-linked 107" }, { - "baseId": "513705|576291", + "upstreamId": "513705|576291", "text": "Arthrogryposis multiplex congenita 2, neurogenic type" }, { - "baseId": "513721|513722|513723", + "upstreamId": "513721|513722|513723", "text": "Elsahy-Waters syndrome" }, { - "baseId": "513746|513747|513748", + "upstreamId": "513746|513747|513748", "text": "Osteogenesis imperfecta, type 18" }, { - "baseId": "513759|513760|513761|513762|513763|788734|789345|789346", + "upstreamId": "513759|513760|513761|513762|513763|788734|789345|789346", "text": "Leukodystrophy, hypomyelinating, 15" }, { - "baseId": "513764|513765|513766|513767|513768", + "upstreamId": "513764|513765|513766|513767|513768", "text": "Multiple mitochondrial dysfunctions syndrome 6" }, { - "baseId": "513764", + "upstreamId": "513764", "text": "PMPCB-related mitochondrial disorder" }, { - "baseId": "513769", + "upstreamId": "513769", "text": "Hyperostosis cranialis interna" }, { - "baseId": "513781", + "upstreamId": "513781", "text": "AKT1 Inhibitor response" }, { - "baseId": "513782", + "upstreamId": "513782", "text": "WEE1 Inhibitor response" }, { - "baseId": "513793|513796|513799", + "upstreamId": "513793|513796|513799", "text": "VEGF Inhibitors response" }, { - "baseId": "513798", + "upstreamId": "513798", "text": "MEK Inhibitor response" }, { - "baseId": "513800|513801", + "upstreamId": "513800|513801", "text": "mTOR Inhibitor response" }, { - "baseId": "513815|513816", + "upstreamId": "513815|513816", "text": "PDS5A-related disorder" }, { - "baseId": "513825", + "upstreamId": "513825", "text": "WAPL-related disorder" }, { - "baseId": "513826|513827|513828|513829|513830|513848", + "upstreamId": "513826|513827|513828|513829|513830|513848", "text": "STAG2-related disorder" }, { - "baseId": "513827|513828|513830|612202|612203|612204|798804|798805", + "upstreamId": "513827|513828|513830|612202|612203|612204|798804|798805", "text": "Mullegama-Klein-Martinez syndrome" }, { - "baseId": "513861|513862|513863", + "upstreamId": "513861|513862|513863", "text": "Combined oxidative phosphorylation deficiency 36" }, { - "baseId": "513864|513865|615240|615241", + "upstreamId": "513864|513865|615240|615241", "text": "Spermatogenic failure 24" }, { - "baseId": "513884", + "upstreamId": "513884", "text": "Spermatogenic failure 26" }, { - "baseId": "513887", + "upstreamId": "513887", "text": "Leukodystrophy, hypomyelinating, 16" }, { - "baseId": "513889", + "upstreamId": "513889", "text": "Adrenal pheochromocytoma" }, { - "baseId": "513889", + "upstreamId": "513889", "text": "Recurrent paroxysmal headache" }, { - "baseId": "513891", + "upstreamId": "513891", "text": "Palmoplantar hyperhidrosis" }, { - "baseId": "513891|513990", + "upstreamId": "513891|513990", "text": "Atrophic scars" }, { - "baseId": "513896", + "upstreamId": "513896", "text": "Constipation" }, { - "baseId": "513896", + "upstreamId": "513896", "text": "Abnormal urinary color" }, { - "baseId": "513905", + "upstreamId": "513905", "text": "Hyperglycemia" }, { - "baseId": "513906|513959|514053|677975", + "upstreamId": "513906|513959|514053|677975", "text": "Arteriovenous malformation" }, { - "baseId": "513907", + "upstreamId": "513907", "text": "Bilateral cleft palate" }, { - "baseId": "513907", + "upstreamId": "513907", "text": "Absent gallbladder" }, { - "baseId": "513911", + "upstreamId": "513911", "text": "Low-output congestive heart failure" }, { - "baseId": "513914", + "upstreamId": "513914", "text": "Late-onset muscular dystrophy" }, { - "baseId": "513915", + "upstreamId": "513915", "text": "Severe photosensitivity" }, { - "baseId": "513917|513990", + "upstreamId": "513917|513990", "text": "Hyperextensible skin" }, { - "baseId": "513917", + "upstreamId": "513917", "text": "Spinal deformities" }, { - "baseId": "513926", + "upstreamId": "513926", "text": "Abnormal myelination" }, { - "baseId": "513927|513928", + "upstreamId": "513927|513928", "text": "Amenorrhea" }, { - "baseId": "513929", + "upstreamId": "513929", "text": "Optic disc drusen" }, { - "baseId": "513931", + "upstreamId": "513931", "text": "Absent muscle fiber dysferlin" }, { - "baseId": "513945", + "upstreamId": "513945", "text": "Teratoma" }, { - "baseId": "513945|626447|626448|626449|626450", + "upstreamId": "513945|626447|626448|626449|626450", "text": "Imperforate anus" }, { - "baseId": "513946", + "upstreamId": "513946", "text": "Progressive gait ataxia" }, { - "baseId": "513953", + "upstreamId": "513953", "text": "Hydrocele testis" }, { - "baseId": "513967", + "upstreamId": "513967", "text": "Ventricular arrhythmia" }, { - "baseId": "513970", + "upstreamId": "513970", "text": "Skeletal muscle hypertrophy" }, { - "baseId": "513970", + "upstreamId": "513970", "text": "Lumbar hyperlordosis" }, { - "baseId": "513970", + "upstreamId": "513970", "text": "Hypoplasia of the maxilla" }, { - "baseId": "513972|514028", + "upstreamId": "513972|514028", "text": "Vasculitis" }, { - "baseId": "513977", + "upstreamId": "513977", "text": "Chorioretinal coloboma" }, { - "baseId": "513977", + "upstreamId": "513977", "text": "Pulmonary artery atresia" }, { - "baseId": "513977", + "upstreamId": "513977", "text": "Retinal coloboma" }, { - "baseId": "513978", + "upstreamId": "513978", "text": "Choanal atresia" }, { - "baseId": "513985", + "upstreamId": "513985", "text": "Pulmonary arteriovenous malformation" }, { - "baseId": "513985", + "upstreamId": "513985", "text": "Palate telangiectasia" }, { - "baseId": "513985|514023", + "upstreamId": "513985|514023", "text": "Oral cavity telangiectasia" }, { - "baseId": "513987", + "upstreamId": "513987", "text": "Angiofibromas" }, { - "baseId": "513987", + "upstreamId": "513987", "text": "Renal angiomyolipoma" }, { - "baseId": "513990", + "upstreamId": "513990", "text": "Cigarette-paper scars" }, { - "baseId": "513990", + "upstreamId": "513990", "text": "Large joint dislocations" }, { - "baseId": "513995", + "upstreamId": "513995", "text": "Impaired gluconeogenesis" }, { - "baseId": "513995", + "upstreamId": "513995", "text": "Abnormality of acid-base homeostasis" }, { - "baseId": "514002", + "upstreamId": "514002", "text": "Loss of consciousness" }, { - "baseId": "514023", + "upstreamId": "514023", "text": "Lip telangiectasia" }, { - "baseId": "514032", + "upstreamId": "514032", "text": "Pachygyria" }, { - "baseId": "514035|514036", + "upstreamId": "514035|514036", "text": "Cobalamin deficiency" }, { - "baseId": "514043|514327", + "upstreamId": "514043|514327", "text": "Aplasia/Hypoplasia of the corpus callosum" }, { - "baseId": "514050|514187", + "upstreamId": "514050|514187", "text": "Striae distensae" }, { - "baseId": "514050", + "upstreamId": "514050", "text": "Pulmonary artery dilatation" }, { - "baseId": "514051", + "upstreamId": "514051", "text": "Myxomatous mitral valve degeneration" }, { - "baseId": "514051", + "upstreamId": "514051", "text": "Lumbar scoliosis" }, { - "baseId": "514059|679672", + "upstreamId": "514059|679672", "text": "Enlarged kidney" }, { - "baseId": "514069|514070|608886|608887|608888|608889|608891|608892|608893|971066", + "upstreamId": "514069|514070|608886|608887|608888|608889|608891|608892|608893|971066", "text": "Ciliary dyskinesia, primary, 40" }, { - "baseId": "514079", + "upstreamId": "514079", "text": "Premature birth" }, { - "baseId": "514084", + "upstreamId": "514084", "text": "Reduced bone mineral density" }, { - "baseId": "514092", + "upstreamId": "514092", "text": "Tension-type headache" }, { - "baseId": "514099|623231", + "upstreamId": "514099|623231", "text": "Apnea" }, { - "baseId": "514103", + "upstreamId": "514103", "text": "Myopathic facies" }, { - "baseId": "514103", + "upstreamId": "514103", "text": "Axial muscle stiffness" }, { - "baseId": "514106|622034|963005|963006|963007|963008|963009|963010|963011|963012|963013|963014|963015|963016|963017|963018|963019|963020|963021|963022|963023|963024|963025|963026|963027|963028|963029|963030|963031|963032|963033|963034|963035|963036|963037|963038|963039|963040|963041|963042|963043|963044|963045|963046|963047|963048|963049|963050|963051|963052|963053|963054|963055|963056|963057|963058|963059", + "upstreamId": "514106|622034|963005|963006|963007|963008|963009|963010|963011|963012|963013|963014|963015|963016|963017|963018|963019|963020|963021|963022|963023|963024|963025|963026|963027|963028|963029|963030|963031|963032|963033|963034|963035|963036|963037|963038|963039|963040|963041|963042|963043|963044|963045|963046|963047|963048|963049|963050|963051|963052|963053|963054|963055|963056|963057|963058|963059", "text": "Aganglionic megacolon" }, { - "baseId": "514106", + "upstreamId": "514106", "text": "Abnormality of the rectum" }, { - "baseId": "514114|792691", + "upstreamId": "514114|792691", "text": "Nephropathy" }, { - "baseId": "514115", + "upstreamId": "514115", "text": "Unilateral deafness" }, { - "baseId": "514116", + "upstreamId": "514116", "text": "Nephritis" }, { - "baseId": "514116", + "upstreamId": "514116", "text": "Global glomerulosclerosis" }, { - "baseId": "514117", + "upstreamId": "514117", "text": "Elevated mean arterial pressure" }, { - "baseId": "514119", + "upstreamId": "514119", "text": "Sepsis" }, { - "baseId": "514122", + "upstreamId": "514122", "text": "Abnormality of the nail" }, { - "baseId": "514122", + "upstreamId": "514122", "text": "Bifid nail" }, { - "baseId": "514122", + "upstreamId": "514122", "text": "Ridged nail" }, { - "baseId": "514123", + "upstreamId": "514123", "text": "Unilateral polymicrogyria" }, { - "baseId": "514123", + "upstreamId": "514123", "text": "Frontoparietal polymicrogyria" }, { - "baseId": "514125", + "upstreamId": "514125", "text": "Encephalitis" }, { - "baseId": "514125", + "upstreamId": "514125", "text": "Episodic fever" }, { - "baseId": "514125|514142", + "upstreamId": "514125|514142", "text": "Myocarditis" }, { - "baseId": "514126", + "upstreamId": "514126", "text": "Arterial thrombosis" }, { - "baseId": "514127", + "upstreamId": "514127", "text": "Subependymal nodules" }, { - "baseId": "514133", + "upstreamId": "514133", "text": "Abnormal muscle fiber dystrophin expression" }, { - "baseId": "514137", + "upstreamId": "514137", "text": "Mild fetal ventriculomegaly" }, { - "baseId": "514140", + "upstreamId": "514140", "text": "Low-molecular-weight proteinuria" }, { - "baseId": "514140", + "upstreamId": "514140", "text": "Multiple small medullary renal cysts" }, { - "baseId": "514143", + "upstreamId": "514143", "text": "Absent pubic hair" }, { - "baseId": "514143", + "upstreamId": "514143", "text": "Absent axillary hair" }, { - "baseId": "514143", + "upstreamId": "514143", "text": "Female external genitalia in individual with 46,XY karyotype" }, { - "baseId": "514148", + "upstreamId": "514148", "text": "Chorioretinal atrophy" }, { - "baseId": "514150", + "upstreamId": "514150", "text": "Optic neuritis" }, { - "baseId": "514152", + "upstreamId": "514152", "text": "Oromandibular dystonia" }, { - "baseId": "514154", + "upstreamId": "514154", "text": "Steppage gait" }, { - "baseId": "514155", + "upstreamId": "514155", "text": "Incomprehensible speech" }, { - "baseId": "514159|514160", + "upstreamId": "514159|514160", "text": "Peripheral hypomyelination" }, { - "baseId": "514170", + "upstreamId": "514170", "text": "Narrow mouth" }, { - "baseId": "514173", + "upstreamId": "514173", "text": "Long face" }, { - "baseId": "514173", + "upstreamId": "514173", "text": "Proximal placement of thumb" }, { - "baseId": "514176", + "upstreamId": "514176", "text": "Epileptic spasms" }, { - "baseId": "514184", + "upstreamId": "514184", "text": "Coarctation of aorta" }, { - "baseId": "514185", + "upstreamId": "514185", "text": "Hearing abnormality" }, { - "baseId": "514187", + "upstreamId": "514187", "text": "Abnormality of the mitral valve" }, { - "baseId": "514208|621018", + "upstreamId": "514208|621018", "text": "Facial hemangioma" }, { - "baseId": "514213", + "upstreamId": "514213", "text": "Torticollis" }, { - "baseId": "514216|514217|801187|801188", + "upstreamId": "514216|514217|801187|801188", "text": "Migraine with aura" }, { - "baseId": "514218", + "upstreamId": "514218", "text": "Short phalanx of finger" }, { - "baseId": "514218", + "upstreamId": "514218", "text": "Sandal gap" }, { - "baseId": "514218", + "upstreamId": "514218", "text": "Hypermetropia" }, { - "baseId": "514221", + "upstreamId": "514221", "text": "Frontal bossing" }, { - "baseId": "514263", + "upstreamId": "514263", "text": "LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7" }, { - "baseId": "514264|609315", + "upstreamId": "514264|609315", "text": "Spermatogenic failure 27" }, { - "baseId": "514265", + "upstreamId": "514265", "text": "Synostosis involving bones of the lower limbs" }, { - "baseId": "514265", + "upstreamId": "514265", "text": "Severe postnatal growth retardation" }, { - "baseId": "514266", + "upstreamId": "514266", "text": "AFib amyloidosis" }, { - "baseId": "514277", + "upstreamId": "514277", "text": "Intellectual disability syndrome due to a DYRK1A point mutation" }, { - "baseId": "514293", + "upstreamId": "514293", "text": "Human immunodeficiency virus type 1, rapid progression to AIDS" }, { - "baseId": "514305|514306|514307|575488|612052|790402|790403|790404|918153|970773|977199", + "upstreamId": "514305|514306|514307|575488|612052|790402|790403|790404|918153|970773|977199", "text": "Ververi-Brady syndrome" }, { - "baseId": "514310|514311", + "upstreamId": "514310|514311", "text": "Abnormality of the ribs" }, { - "baseId": "514310|514311|550882|550883|800785", + "upstreamId": "514310|514311|550882|550883|800785", "text": "External ophthalmoplegia" }, { - "baseId": "514310|514311", + "upstreamId": "514310|514311", "text": "Ophthalmoplegia, external, with rib and vertebral anomalies" }, { - "baseId": "514432", + "upstreamId": "514432", "text": "NFIA-related disorders" }, { - "baseId": "514844", + "upstreamId": "514844", "text": "Microcephaly 23, primary, autosomal recessive" }, { - "baseId": "514845|514846|514847", + "upstreamId": "514845|514846|514847", "text": "Microcephaly 22, primary, autosomal recessive" }, { - "baseId": "514850", + "upstreamId": "514850", "text": "Microcephaly 21, primary, autosomal recessive" }, { - "baseId": "517552|619120|620052|620053", + "upstreamId": "517552|619120|620052|620053", "text": "APOB-Related Disorders" }, { - "baseId": "520495|620169|620170", + "upstreamId": "520495|620169|620170", "text": "EVC-Related Disorders" }, { - "baseId": "521177|521178|560315|560448|633932|633933|633934|633935|691852|830834|830835|932903|932904|940815|944616", + "upstreamId": "521177|521178|560315|560448|633932|633933|633934|633935|691852|830834|830835|932903|932904|940815|944616", "text": "Pure or complex autosomal recessive spastic paraplegia" }, { - "baseId": "525349|639123|919283", + "upstreamId": "525349|639123|919283", "text": "Lymphoma, Non-Hodgkin, Familial" }, { - "baseId": "528414", + "upstreamId": "528414", "text": "Inherited spastic paresis" }, { - "baseId": "533574", + "upstreamId": "533574", "text": "KCNB1-related disorder" }, { - "baseId": "535228", + "upstreamId": "535228", "text": "Abnormal sperm morphology" }, { - "baseId": "535228", + "upstreamId": "535228", "text": "Reduced sperm motility" }, { - "baseId": "535230", + "upstreamId": "535230", "text": "Echogenic fetal bowel" }, { - "baseId": "535230", + "upstreamId": "535230", "text": "Bilateral fetal pyelectasis" }, { - "baseId": "535231|535232|535233|535234|789367|963142", + "upstreamId": "535231|535232|535233|535234|789367|963142", "text": "Jaberi-Elahi syndrome" }, { - "baseId": "535285|535286|535287|535288|536191", + "upstreamId": "535285|535286|535287|535288|536191", "text": "Ehlers-danlos syndrome, classic-like, 2" }, { - "baseId": "535380", + "upstreamId": "535380", "text": "Recurrent encephalopathy" }, { - "baseId": "535380|622762|622764|622765", + "upstreamId": "535380|622762|622764|622765", "text": "Encephalopathy, acute, infection-induced, susceptibility to, 9" }, { - "baseId": "535383", + "upstreamId": "535383", "text": "DACT1-related neural tube defects" }, { - "baseId": "535386", + "upstreamId": "535386", "text": "13q partial monosomy syndrome" }, { - "baseId": "535693|792798|966164|966165", + "upstreamId": "535693|792798|966164|966165", "text": "Diarrhea" }, { - "baseId": "535693|550130", + "upstreamId": "535693|550130", "text": "Failure to thrive in infancy" }, { - "baseId": "535693", + "upstreamId": "535693", "text": "Chronic diarrhea" }, { - "baseId": "535693", + "upstreamId": "535693", "text": "Impaired feeding ability" }, { - "baseId": "535700|556483|615915", + "upstreamId": "535700|556483|615915", "text": "Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8" }, { - "baseId": "535725|535726|535727|535728|970528", + "upstreamId": "535725|535726|535727|535728|970528", "text": "Congenital disorder of glycosylation with defective fucosylation 1" }, { - "baseId": "535729|535730|535731|965424|965425|965426", + "upstreamId": "535729|535730|535731|965424|965425|965426", "text": "OOCYTE MATURATION DEFECT 5" }, { - "baseId": "535752", + "upstreamId": "535752", "text": "Deafness, autosomal recessive 26" }, { - "baseId": "535756|535757|535758", + "upstreamId": "535756|535757|535758", "text": "Hyperekplexia 4" }, { - "baseId": "536004", + "upstreamId": "536004", "text": "Isolated nail anomaly" }, { - "baseId": "536009", + "upstreamId": "536009", "text": "Premature ovarian failure 14" }, { - "baseId": "536010|536011", + "upstreamId": "536010|536011", "text": "Deafness, autosomal recessive 109" }, { - "baseId": "536026|536027|536028|536029|575487|961597|983652|983653", + "upstreamId": "536026|536027|536028|536029|575487|961597|983652|983653", "text": "Epileptic encephalopathy, infantile or early childhood 3" }, { - "baseId": "536041", + "upstreamId": "536041", "text": "SHORT-RIB THORACIC DYSPLASIA 4 WITH POLYDACTYLY" }, { - "baseId": "536042", + "upstreamId": "536042", "text": "gamma-Glutamyltransferase deficiency" }, { - "baseId": "536060", + "upstreamId": "536060", "text": "Anomalous pulmonary venous return" }, { - "baseId": "536064|857664|857665|857666|857667|857668|857669|857670", + "upstreamId": "536064|857664|857665|857666|857667|857668|857669|857670", "text": "Conotruncal defect" }, { - "baseId": "536074", + "upstreamId": "536074", "text": "Protoporphyria, erythropoietic, 2" }, { - "baseId": "536086|536087", + "upstreamId": "536086|536087", "text": "CYP2C8 POLYMORPHISM" }, { - "baseId": "536130|536131", + "upstreamId": "536130|536131", "text": "Glycosylphosphatidylinositol biosynthesis defect 17" }, { - "baseId": "536132|536133", + "upstreamId": "536132|536133", "text": "Tetraamelia syndrome 2" }, { - "baseId": "536134", + "upstreamId": "536134", "text": "Humerofemoral hypoplasia with radiotibial ray deficiency" }, { - "baseId": "536135", + "upstreamId": "536135", "text": "Waardenburg syndrome type 2" }, { - "baseId": "536136", + "upstreamId": "536136", "text": "Cleft palate, proliferative retinopathy, and developmental delay" }, { - "baseId": "536137", + "upstreamId": "536137", "text": "RFT1 related CDG" }, { - "baseId": "536138|536151|536160|536186|536187", + "upstreamId": "536138|536151|536160|536186|536187", "text": "Interstitial pneumonitis" }, { - "baseId": "536138|536151|536160|536186|536187", + "upstreamId": "536138|536151|536160|536186|536187", "text": "Cirrhosis of liver" }, { - "baseId": "536169|536170|536171|536172|536173|983569", + "upstreamId": "536169|536170|536171|536172|536173|983569", "text": "Charcot-marie-tooth disease, axonal, type 2DD" }, { - "baseId": "536184", + "upstreamId": "536184", "text": "BMPR1A Skeletal Dysplasia Syndrome" }, { - "baseId": "536185|538933|538934|578020", + "upstreamId": "536185|538933|538934|578020", "text": "Spermatogenic failure 33" }, { - "baseId": "536185", + "upstreamId": "536185", "text": "multiple morphologic abnormalities of the sperm flagellum" }, { - "baseId": "536185", + "upstreamId": "536185", "text": "dysplasia of the mitochondrial sheath" }, { - "baseId": "536185", + "upstreamId": "536185", "text": "asthenozoospermia" }, { - "baseId": "536236|620735", + "upstreamId": "536236|620735", "text": "TTC21B-Related Disorders" }, { - "baseId": "536352", + "upstreamId": "536352", "text": "ROR2-Related Disorders" }, { - "baseId": "536834", + "upstreamId": "536834", "text": "GRIN2B-Related Disorder" }, { - "baseId": "537303|556459|919788|961430|961433|964749", + "upstreamId": "537303|556459|919788|961430|961433|964749", "text": "Optic atrophy 12" }, { - "baseId": "537654", + "upstreamId": "537654", "text": "Suxamethonium response - slow metabolism" }, { - "baseId": "537662|537663|537664|537665|614692|614693", + "upstreamId": "537662|537663|537664|537665|614692|614693", "text": "Keipert syndrome" }, { - "baseId": "538327|578378|906220|906221|906222|906223|906224|906225|906226|906227|906228|906229", + "upstreamId": "538327|578378|906220|906221|906222|906223|906224|906225|906226|906227|906228|906229", "text": "Rokitansky Kuster Hauser syndrome" }, { - "baseId": "538391|590732", + "upstreamId": "538391|590732", "text": "Fulminant hepatic failure" }, { - "baseId": "538391|538392|590732|680031|680032|970558", + "upstreamId": "538391|538392|590732|680031|680032|970558", "text": "Infantile liver failure syndrome 3" }, { - "baseId": "538603", + "upstreamId": "538603", "text": "lovastatin response - Efficacy" }, { - "baseId": "538604", + "upstreamId": "538604", "text": "sunitinib response - Toxicity/ADR" }, { - "baseId": "538616", + "upstreamId": "538616", "text": "Parkinsonism-dystonia, infantile, 2" }, { - "baseId": "538617|538618|538619|538620", + "upstreamId": "538617|538618|538619|538620", "text": "Mitochondrial complex 1 deficiency, nuclear type 32" }, { - "baseId": "538627|623665|623666|623667|919022|970829", + "upstreamId": "538627|623665|623666|623667|919022|970829", "text": "Coffin-Siris syndrome 10" }, { - "baseId": "538627|623665|623666|623667", + "upstreamId": "538627|623665|623666|623667", "text": "Mild facial and digital morphological abnormalities" }, { - "baseId": "538927|615334|615335", + "upstreamId": "538927|615334|615335", "text": "Impaired ADP-induced platelet aggregation" }, { - "baseId": "538933|538934|654330", + "upstreamId": "538933|538934|654330", "text": "Non-syndromic male infertility due to sperm motility disorder" }, { - "baseId": "538933|538934|609187|615983|615984|615985|615986|800342|800343", + "upstreamId": "538933|538934|609187|615983|615984|615985|615986|800342|800343", "text": "Male infertility with teratozoospermia due to single gene mutation" }, { - "baseId": "538954", + "upstreamId": "538954", "text": "Fasting plasma glucose level quantitative trait locus 1" }, { - "baseId": "538975|905825|905826|905827|905828", + "upstreamId": "538975|905825|905826|905827|905828", "text": "Fanconi renotubular syndrome 1" }, { - "baseId": "538996", + "upstreamId": "538996", "text": "Acetyl-CoA acetyltransferase-2 deficiency" }, { - "baseId": "539044", + "upstreamId": "539044", "text": "POLE Exonuclease Domain Mutation" }, { - "baseId": "539116|539117|539118|539119|621023|789341|789342|789343", + "upstreamId": "539116|539117|539118|539119|621023|789341|789342|789343", "text": "Periventricular nodular heterotopia" }, { - "baseId": "539117|539118|539119|789341|789342|789343|918530|918978|977217", + "upstreamId": "539117|539118|539119|789341|789342|789343|918530|918978|977217", "text": "Periventricular nodular heterotopia 9" }, { - "baseId": "539127", + "upstreamId": "539127", "text": "Neuromotor delay" }, { - "baseId": "539144", + "upstreamId": "539144", "text": "Kaposiform hemangioendothelioma" }, { - "baseId": "539144", + "upstreamId": "539144", "text": "Lobular capillary hemangioma" }, { - "baseId": "539144", + "upstreamId": "539144", "text": "Congenital tufted angioma" }, { - "baseId": "539159", + "upstreamId": "539159", "text": "Hemolytic-uremic syndrome" }, { - "baseId": "539160", + "upstreamId": "539160", "text": "Lobular capillary hemangiomas" }, { - "baseId": "539162|742567|980853", + "upstreamId": "539162|742567|980853", "text": "Congenital anomalies of kidney and urinary tract 3" }, { - "baseId": "539187", + "upstreamId": "539187", "text": "RTEL1-related Disorders" }, { - "baseId": "539431", + "upstreamId": "539431", "text": "SLC9A7-related neurodevelopmental disorder" }, { - "baseId": "539431", + "upstreamId": "539431", "text": "Intellectual developmental disorder, X-linked 108" }, { - "baseId": "539434", + "upstreamId": "539434", "text": "Glaucoma 1, open angle, B" }, { - "baseId": "539437|539438|539439|539477", + "upstreamId": "539437|539438|539439|539477", "text": "Proteasome-associated autoinflammatory syndrome 3" }, { - "baseId": "539475|539476|634822", + "upstreamId": "539475|539476|634822", "text": "PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1, DIGENIC" }, { - "baseId": "539960|539961|539962", + "upstreamId": "539960|539961|539962", "text": "Extra oral halitosis" }, { - "baseId": "539960|539961|539962|576310", + "upstreamId": "539960|539961|539962|576310", "text": "Extraoral halitosis due to methanethiol oxidase deficiency" }, { - "baseId": "539967|977164|977313|977314|977316", + "upstreamId": "539967|977164|977313|977314|977316", "text": "Decreased antibody level in blood" }, { - "baseId": "539978", + "upstreamId": "539978", "text": "Poor motor coordination" }, { - "baseId": "540441", + "upstreamId": "540441", "text": "Spinal muscular atrophy, facioscapulohumeral type" }, { - "baseId": "540443", + "upstreamId": "540443", "text": "Autosomal recessive distal hereditary motor neuropathy" }, { - "baseId": "540459|610399|610400|610402|610403", + "upstreamId": "540459|610399|610400|610402|610403", "text": "Myasthenic syndrome, congenital, 25, presynaptic" }, { - "baseId": "540570|540571", + "upstreamId": "540570|540571", "text": "Pontocerebellar hypoplasia, type 1d" }, { - "baseId": "540570", + "upstreamId": "540570", "text": "Cerebral atrophy" }, { - "baseId": "540572|540573|540574|540575|540576|975663|980320", + "upstreamId": "540572|540573|540574|540575|540576|975663|980320", "text": "Polycystic kidney disease 6 with or without polycystic liver disease" }, { - "baseId": "540580|540581", + "upstreamId": "540580|540581", "text": "Bone marrow failure syndrome 5" }, { - "baseId": "540582", + "upstreamId": "540582", "text": "Phocomelia" }, { - "baseId": "540582", + "upstreamId": "540582", "text": "Bilateral cleft lip and palate" }, { - "baseId": "540583|540584|540585|540586|540587|798630", + "upstreamId": "540583|540584|540585|540586|540587|798630", "text": "Ciliary dyskinesia, primary, 38" }, { - "baseId": "546178", + "upstreamId": "546178", "text": "KCNJ11-Related Disorders" }, { - "baseId": "549007", + "upstreamId": "549007", "text": "LAMA3-Related Disorders" }, { - "baseId": "549494|590364", + "upstreamId": "549494|590364", "text": "1q24q25 microdeletion syndrome" }, { - "baseId": "549495|549496|980402", + "upstreamId": "549495|549496|980402", "text": "Osteogenesis imperfecta, type 19" }, { - "baseId": "550117|970789", + "upstreamId": "550117|970789", "text": "Epilepsy, familial adult myoclonic, 7" }, { - "baseId": "550118", + "upstreamId": "550118", "text": "Epilepsy, familial adult myoclonic, 6" }, { - "baseId": "550129|550226|818753|818754|818755|818756", + "upstreamId": "550129|550226|818753|818754|818755|818756", "text": "Mandibular prognathia" }, { - "baseId": "550129|550226", + "upstreamId": "550129|550226", "text": "Narrow nasal bridge" }, { - "baseId": "550131", + "upstreamId": "550131", "text": "Short philtrum" }, { - "baseId": "550141|550142", + "upstreamId": "550141|550142", "text": "Combined oxidative phosphorylation deficiency 41" }, { - "baseId": "550143|550144|550146|853057|853058", + "upstreamId": "550143|550144|550146|853057|853058", "text": "Combined oxidative phosphorylation deficiency 40" }, { - "baseId": "550147", + "upstreamId": "550147", "text": "Combined oxidative phosphorylation deficiency 42" }, { - "baseId": "550171|550172", + "upstreamId": "550171|550172", "text": "Neurodevelopmental disorder with spasticity and poor growth" }, { - "baseId": "550173", + "upstreamId": "550173", "text": "Inflammatory bowel disease 29" }, { - "baseId": "550206", + "upstreamId": "550206", "text": "Ovarian dysgenesis 6" }, { - "baseId": "550223|550224", + "upstreamId": "550223|550224", "text": "LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8" }, { - "baseId": "550227|553415", + "upstreamId": "550227|553415", "text": "Abnormality of esophagus physiology" }, { - "baseId": "550229", + "upstreamId": "550229", "text": "overriding digits" }, { - "baseId": "550229", + "upstreamId": "550229", "text": "clino-symphalangism" }, { - "baseId": "550229", + "upstreamId": "550229", "text": "Osteochondrodysplasia, brachydactyly, and overlapping malformed digits" }, { - "baseId": "550241|550242|970660", + "upstreamId": "550241|550242|970660", "text": "Peeling skin syndrome 6" }, { - "baseId": "550298", + "upstreamId": "550298", "text": "Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus" }, { - "baseId": "550305|550306|550307|550308|550309|550310", + "upstreamId": "550305|550306|550307|550308|550309|550310", "text": "Congenital malrotation of intestine" }, { - "baseId": "550314", + "upstreamId": "550314", "text": "Atrial fibrillation, familial, 1" }, { - "baseId": "550317|550318|550319", + "upstreamId": "550317|550318|550319", "text": "Moyamoya disease 1" }, { - "baseId": "550321|550322|550323|550324|550325|550326|626460|677962|792598|798509|816504|858763|906197|906199|963522|963523|964203|964813|964814|965214|970746|972528|976646", + "upstreamId": "550321|550322|550323|550324|550325|550326|626460|677962|792598|798509|816504|858763|906197|906199|963522|963523|964203|964813|964814|965214|970746|972528|976646", "text": "Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities" }, { - "baseId": "550327|550328|858752", + "upstreamId": "550327|550328|858752", "text": "Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum" }, { - "baseId": "550329|550330|550331|550332|550333|590379|590380|791423|964862|964992|971002|974523", + "upstreamId": "550329|550330|550331|550332|550333|590379|590380|791423|964862|964992|971002|974523", "text": "Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures" }, { - "baseId": "550357", + "upstreamId": "550357", "text": "ITPR1-associated cerebellar ataxia spectrum disorder" }, { - "baseId": "550366", + "upstreamId": "550366", "text": "SCN8A-related epileptic disorder" }, { - "baseId": "550565", + "upstreamId": "550565", "text": "Spermatogenic failure 29" }, { - "baseId": "550616|962974|962975", + "upstreamId": "550616|962974|962975", "text": "Arthrogryposis multiplex congenita 5" }, { - "baseId": "550672", + "upstreamId": "550672", "text": "Klatskin tumor" }, { - "baseId": "550690", + "upstreamId": "550690", "text": "Carcinoma of head of pancreas" }, { - "baseId": "550879", + "upstreamId": "550879", "text": "Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia" }, { - "baseId": "550884", + "upstreamId": "550884", "text": "X-linked congenital hemolytic anemia" }, { - "baseId": "550886|976649", + "upstreamId": "550886|976649", "text": "Intellectual disability, autosomal recessive 63" }, { - "baseId": "550890|550891|550892|550893|550894|798683|798684|919553|964418|964863|976704|983659", + "upstreamId": "550890|550891|550892|550893|550894|798683|798684|919553|964418|964863|976704|983659", "text": "Intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities" }, { - "baseId": "551234|551235", + "upstreamId": "551234|551235", "text": "Mental retardation, autosomal recessive 64" }, { - "baseId": "551247|551248|551249|551250", + "upstreamId": "551247|551248|551249|551250", "text": "Neurodevelopmental disorder with seizures and speech and walking impairment" }, { - "baseId": "551251|551252|551253", + "upstreamId": "551251|551252|551253", "text": "Microcephaly, growth restriction, and increased sister chromatid exchange 2" }, { - "baseId": "551265", + "upstreamId": "551265", "text": "Deafness, autosomal recessive 26, modifier of" }, { - "baseId": "551266|789260|861054", + "upstreamId": "551266|789260|861054", "text": "Epilepsy, familial adult myoclonic, 1" }, { - "baseId": "551271|551272", + "upstreamId": "551271|551272", "text": "Generalized hypertrichosis" }, { - "baseId": "551271|551272", + "upstreamId": "551271|551272", "text": "Gingival overgrowth" }, { - "baseId": "551271|551272|919376|919377", + "upstreamId": "551271|551272|919376|919377", "text": "Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome" }, { - "baseId": "551354|551355", + "upstreamId": "551354|551355", "text": "Osteopetrosis, autosomal dominant 3" }, { - "baseId": "551402", + "upstreamId": "551402", "text": "Sensory axonal neuropathy" }, { - "baseId": "551416|788851|818759|818760|818761|818762|818763|818764|818767|818768|818769|818770|818771|818772|818773|818774|818775|818776|818777|818778|818779|818780|818787|818788|818789|818790|818791|818792|818793|818794|818795|818796|822288", + "upstreamId": "551416|788851|818759|818760|818761|818762|818763|818764|818767|818768|818769|818770|818771|818772|818773|818774|818775|818776|818777|818778|818779|818780|818787|818788|818789|818790|818791|818792|818793|818794|818795|818796|822288", "text": "Cleft lip with or without cleft palate" }, { - "baseId": "551431|624832|624833", + "upstreamId": "551431|624832|624833", "text": "Coronal craniosynostosis" }, { - "baseId": "551445|610695|610896|610898|801074|918497|964792", + "upstreamId": "551445|610695|610896|610898|801074|918497|964792", "text": "Lactic acidosis" }, { - "baseId": "551448|551458", + "upstreamId": "551448|551458", "text": "Aortic valve disease 3" }, { - "baseId": "551484", + "upstreamId": "551484", "text": "Spermatogenic failure 30" }, { - "baseId": "551500|551501|551502|611343|611344|798703", + "upstreamId": "551500|551501|551502|611343|611344|798703", "text": "Spermatogenic failure 31" }, { - "baseId": "551675|551676|551677|551678|551679|614525|804880|804881|964142", + "upstreamId": "551675|551676|551677|551678|551679|614525|804880|804881|964142", "text": "Intellectual disability, autosomal recessive 65" }, { - "baseId": "551692", + "upstreamId": "551692", "text": "Primary generalized epilepsy" }, { - "baseId": "551693", + "upstreamId": "551693", "text": "pharmacoresistant multifocal epilepsy" }, { - "baseId": "551696", + "upstreamId": "551696", "text": "intractable epilepsy" }, { - "baseId": "551707", + "upstreamId": "551707", "text": "Chronic adenoiditis" }, { - "baseId": "551731|971587", + "upstreamId": "551731|971587", "text": "Biventricular noncompaction cardiomyopathy" }, { - "baseId": "551734", + "upstreamId": "551734", "text": "Dilated left ventricle" }, { - "baseId": "551738|857698", + "upstreamId": "551738|857698", "text": "Complex febrile seizures" }, { - "baseId": "551740", + "upstreamId": "551740", "text": "developmental delay with absent seizures" }, { - "baseId": "551750", + "upstreamId": "551750", "text": "Intractable status epilepticus" }, { - "baseId": "551755", + "upstreamId": "551755", "text": "KCNH1-related phenotype" }, { - "baseId": "551956", + "upstreamId": "551956", "text": "Hyaline body myopathy" }, { - "baseId": "551990", + "upstreamId": "551990", "text": "Encephalitis/encephalopathy, mild, with reversible myelin vacuolization" }, { - "baseId": "551991", + "upstreamId": "551991", "text": "Spermatogenic failure 32" }, { - "baseId": "552028", + "upstreamId": "552028", "text": "Small cell carcinoma of the ovary, hypercalcemic type" }, { - "baseId": "552180", + "upstreamId": "552180", "text": "Epilepsy, idiopathic generalized 7" }, { - "baseId": "552184|677192|677193|677194|677195|677197|964871|964872|983564", + "upstreamId": "552184|677192|677193|677194|677195|677197|964871|964872|983564", "text": "Developmental and epileptic encephalopathy, 80" }, { - "baseId": "552226|576314", + "upstreamId": "552226|576314", "text": "Curly hair, ankyloblepharon, nail dysplasia syndrome" }, { - "baseId": "552249|578588|626292|626293", + "upstreamId": "552249|578588|626292|626293", "text": "FLNA related disorders" }, { - "baseId": "552270|552271|552272|589847", + "upstreamId": "552270|552271|552272|589847", "text": "Immunodeficiency 57" }, { - "baseId": "552300|552301|798477|861667|903696", + "upstreamId": "552300|552301|798477|861667|903696", "text": "Bone marrow failure syndrome 4" }, { - "baseId": "552302", + "upstreamId": "552302", "text": "Friedreich ataxia with retained reflexes" }, { - "baseId": "552305|552306|552307|552308|552309|552310|552311|622299|798454|798455|861608|861609|921195|921526|971330|971331|984047|984048", + "upstreamId": "552305|552306|552307|552308|552309|552310|552311|622299|798454|798455|861608|861609|921195|921526|971330|971331|984047|984048", "text": "Autosomal recessive cerebellar ataxia-saccadic intrusion syndrome" }, { - "baseId": "552351|552352|552353|970542", + "upstreamId": "552351|552352|552353|970542", "text": "Polydactyly, postaxial, type A8" }, { - "baseId": "552354", + "upstreamId": "552354", "text": "Liddle syndrome 3" }, { - "baseId": "552399", + "upstreamId": "552399", "text": "Hypoxic Ischemic Encephalopathy" }, { - "baseId": "552401|552406|552407", + "upstreamId": "552401|552406|552407", "text": "Nonsyndromic hearing loss" }, { - "baseId": "552409", + "upstreamId": "552409", "text": "Low renin, low aldosterone hypertension" }, { - "baseId": "553119|553120|553121", + "upstreamId": "553119|553120|553121", "text": "Neurodevelopmental disorder with absent language and variable seizures" }, { - "baseId": "553256|553257|553274", + "upstreamId": "553256|553257|553274", "text": "Autosomal recessive sensorineural hearing loss" }, { - "baseId": "553303", + "upstreamId": "553303", "text": "Wide anterior fontanel" }, { - "baseId": "553304", + "upstreamId": "553304", "text": "Progressive macrocephaly" }, { - "baseId": "553305", + "upstreamId": "553305", "text": "Turricephaly" }, { - "baseId": "553306", + "upstreamId": "553306", "text": "Oxycephaly" }, { - "baseId": "553351", + "upstreamId": "553351", "text": "Chronic colitis" }, { - "baseId": "553354|967228", + "upstreamId": "553354|967228", "text": "Low bone mineral density" }, { - "baseId": "553368|553369|553370|553371|980959", + "upstreamId": "553368|553369|553370|553371|980959", "text": "Trichohepatoneurodevelopmental syndrome" }, { - "baseId": "553368|553369|553370|553371", + "upstreamId": "553368|553369|553370|553371", "text": "Global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair" }, { - "baseId": "556776|614205|627336|980442", + "upstreamId": "556776|614205|627336|980442", "text": "Systemic lupus erythematosus 9" }, { - "baseId": "557027|558481|622852", + "upstreamId": "557027|558481|622852", "text": "recessive ARS-related multisystem disease" }, { - "baseId": "557659", + "upstreamId": "557659", "text": "Acute encephalopathy" }, { - "baseId": "562130", + "upstreamId": "562130", "text": "Acute promyelocytic leukemia" }, { - "baseId": "568095|961876", + "upstreamId": "568095|961876", "text": "Glycogen storage disease type IXc" }, { - "baseId": "570972", + "upstreamId": "570972", "text": "IGHMBP2-related neuronopathy" }, { - "baseId": "575484", + "upstreamId": "575484", "text": "MTOR-related megalencephaly and pigmentary mosaicism in skin" }, { - "baseId": "575486", + "upstreamId": "575486", "text": "PRELP-related osteosclerosis" }, { - "baseId": "575492", + "upstreamId": "575492", "text": "TRIM8-related epileptic encephalopathy" }, { - "baseId": "575496", + "upstreamId": "575496", "text": "Motor neuropathy" }, { - "baseId": "575503", + "upstreamId": "575503", "text": "ACOX1-related condition" }, { - "baseId": "575503", + "upstreamId": "575503", "text": "Mitchell syndrome" }, { - "baseId": "576071|623373|623374|623375|625775|789381", + "upstreamId": "576071|623373|623374|623375|625775|789381", "text": "Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome" }, { - "baseId": "576097", + "upstreamId": "576097", "text": "Plasma fibronectin deficiency" }, { - "baseId": "576130", + "upstreamId": "576130", "text": "Dystonia, primary cervical" }, { - "baseId": "576131", + "upstreamId": "576131", "text": "NOTCH1-Related Disorders" }, { - "baseId": "576141|789704|789705|789706", + "upstreamId": "576141|789704|789705|789706", "text": "PU.1-mutated agammaglobulinemia" }, { - "baseId": "576177", + "upstreamId": "576177", "text": "MYH2-related myopathy" }, { - "baseId": "576196", + "upstreamId": "576196", "text": "HUWE1-Related Disorder" }, { - "baseId": "576199", + "upstreamId": "576199", "text": "Mitochondrial DNA-Associated Leigh Syndrome and NARP" }, { - "baseId": "576254", + "upstreamId": "576254", "text": "primray hypomagnesemia with secondary hypocalcemia" }, { - "baseId": "576301|950239|980508|980562", + "upstreamId": "576301|950239|980508|980562", "text": "Usher syndrome, type 4" }, { - "baseId": "576302|576303|576304|576305|576306", + "upstreamId": "576302|576303|576304|576305|576306", "text": "Glycosylphosphatidylinositol biosynthesis defect 18" }, { - "baseId": "576318|576319|676912|980942", + "upstreamId": "576318|576319|676912|980942", "text": "Deafness, autosomal recessive 111" }, { - "baseId": "576328", + "upstreamId": "576328", "text": "Clinodactyly of the 4th toe" }, { - "baseId": "576332|615425|615428|615632|615633", + "upstreamId": "576332|615425|615428|615632|615633", "text": "Storage pool disease of platelets" }, { - "baseId": "576334", + "upstreamId": "576334", "text": "Familial isolated hyperparathyroidism" }, { - "baseId": "576339|966340|966341", + "upstreamId": "576339|966340|966341", "text": "Isolated anophthalmia-microphthalmia syndrome" }, { - "baseId": "576340", + "upstreamId": "576340", "text": "Presynaptic congenital myasthenic syndrome" }, { - "baseId": "576359", + "upstreamId": "576359", "text": "Intellectual developmental disorder with hypertelorism and distinctive facies" }, { - "baseId": "576379|576380|576381", + "upstreamId": "576379|576380|576381", "text": "Spindle cell sarcoma" }, { - "baseId": "577751|906322", + "upstreamId": "577751|906322", "text": "Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy" }, { - "baseId": "577996|577998|577999|578000|578001", + "upstreamId": "577996|577998|577999|578000|578001", "text": "Lissencephaly with decussation defect" }, { - "baseId": "577996|577997|577998|577999|578000|578001|816439|918636|918637|918638|918639|920149|970687|970688", + "upstreamId": "577996|577997|577998|577999|578000|578001|816439|918636|918637|918638|918639|920149|970687|970688", "text": "Lissencephaly 9 with complex brainstem malformation" }, { - "baseId": "578014|578015", + "upstreamId": "578014|578015", "text": "Abnormal lactate dehydrogenase activity" }, { - "baseId": "578014|578015|861066", + "upstreamId": "578014|578015|861066", "text": "Lactic aciduria due to d-lactic acid" }, { - "baseId": "578016|578017|578018|578019", + "upstreamId": "578016|578017|578018|578019", "text": "Spermatogenic failure 34" }, { - "baseId": "578025|578314|920130", + "upstreamId": "578025|578314|920130", "text": "Warburg-Cinotti syndrome" }, { - "baseId": "578026|679688", + "upstreamId": "578026|679688", "text": "Unilateral renal agenesis" }, { - "baseId": "578026|858767|971020", + "upstreamId": "578026|858767|971020", "text": "Abnormality of finger" }, { - "baseId": "578026|920542", + "upstreamId": "578026|920542", "text": "Coarse facial features" }, { - "baseId": "578033|578034|615903", + "upstreamId": "578033|578034|615903", "text": "Hennekam lymphangiectasia-lymphedema syndrome 3" }, { - "baseId": "578310|578311|578312|590647", + "upstreamId": "578310|578311|578312|590647", "text": "Squalene synthase deficiency" }, { - "baseId": "578323", + "upstreamId": "578323", "text": "Spondyloepimetaphyseal dysplasia, Krakow type" }, { - "baseId": "578324|578325", + "upstreamId": "578324|578325", "text": "Isolated growth hormone deficiency, type 5" }, { - "baseId": "578327|578328|798646|964371|970946", + "upstreamId": "578327|578328|798646|964371|970946", "text": "Intellectual developmental disorder with macrocephaly, seizures, and speech delay" }, { - "baseId": "578376", + "upstreamId": "578376", "text": "Reduced muscle fiber perlecan" }, { - "baseId": "578386|578387", + "upstreamId": "578386|578387", "text": "Nonpersistence of intestinal lactase" }, { - "baseId": "578393", + "upstreamId": "578393", "text": "CHRNA1-Related Congenital Myasthenic Syndrome" }, { - "baseId": "578412", + "upstreamId": "578412", "text": "ATR-X-related syndrome" }, { - "baseId": "578415", + "upstreamId": "578415", "text": "3-Methylglutaconic aciduria" }, { - "baseId": "578479", + "upstreamId": "578479", "text": "Anti-SEMA4D Monoclonal Antibody VX15/2503" }, { - "baseId": "578642", + "upstreamId": "578642", "text": "Retinitis pigmentosa 83" }, { - "baseId": "578643|578644|578645|578646|816356|975869", + "upstreamId": "578643|578644|578645|578646|816356|975869", "text": "Cardiac, facial, and digital anomalies with developmental delay" }, { - "baseId": "578659|578664|578665|622714", + "upstreamId": "578659|578664|578665|622714", "text": "CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B" }, { - "baseId": "580923|788952", + "upstreamId": "580923|788952", "text": "X-linked MED12-related disorder" }, { - "baseId": "581201|581202|581203", + "upstreamId": "581201|581202|581203", "text": "Cortical dysplasia, complex, with other brain malformations 9" }, { - "baseId": "581207", + "upstreamId": "581207", "text": "Atypical chronic myeloid leukemia" }, { - "baseId": "581208", + "upstreamId": "581208", "text": "Chronic myelomonocytic leukemia" }, { - "baseId": "581213|964876|970143", + "upstreamId": "581213|964876|970143", "text": "Spinocerebellar ataxia 48" }, { - "baseId": "581229", + "upstreamId": "581229", "text": "TCF20-related condition" }, { - "baseId": "581236|581237|581238|581828|581835|581836|581837|581839|581840|581841|581842|590438", + "upstreamId": "581236|581237|581238|581828|581835|581836|581837|581839|581840|581841|581842|590438", "text": "Abnormal aortic valve physiology" }, { - "baseId": "581239|581240|581241|581242|581243|581244|590640|590641|789964|792717|798472|858541", + "upstreamId": "581239|581240|581241|581242|581243|581244|590640|590641|789964|792717|798472|858541", "text": "Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures" }, { - "baseId": "581254|581255|581256|581257", + "upstreamId": "581254|581255|581256|581257", "text": "Nephrotic syndrome, type 17" }, { - "baseId": "581258|581259|581260", + "upstreamId": "581258|581259|581260", "text": "Nephrotic syndrome, type 18" }, { - "baseId": "581261|581262", + "upstreamId": "581261|581262", "text": "Nephrotic syndrome, type 19" }, { - "baseId": "581265|581266|581267", + "upstreamId": "581265|581266|581267", "text": "Diarrhea 10, protein-losing enteropathy type" }, { - "baseId": "581268|798649", + "upstreamId": "581268|798649", "text": "Microcephaly 24, primary, autosomal recessive" }, { - "baseId": "581270|581271|581272|677961", + "upstreamId": "581270|581271|581272|677961", "text": "Periventricular nodular heterotopia 8" }, { - "baseId": "581700|581701", + "upstreamId": "581700|581701", "text": "Orthostatic hypotension 2" }, { - "baseId": "581702|581703|581704|581705|581706|581707|679885|679886|679887|921213|980331", + "upstreamId": "581702|581703|581704|581705|581706|581707|679885|679886|679887|921213|980331", "text": "Hyperparathyroidism, transient neonatal" }, { - "baseId": "581718", + "upstreamId": "581718", "text": "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome" }, { - "baseId": "581719|581720|581721", + "upstreamId": "581719|581720|581721", "text": "Cardiomyopathy, dilated, 2c" }, { - "baseId": "581723", + "upstreamId": "581723", "text": "Ovarian dysgenesis 8" }, { - "baseId": "581810|581811|581812|581813|581814|581815|581816|581817|581818|581819|611667|679216|679217|679218|679219|679220|679221|679222|679223|679224|679225|679226|679227|679228|679229|679230|679231|679232|679233|679234|679235|679236|679237|679238|970059", + "upstreamId": "581810|581811|581812|581813|581814|581815|581816|581817|581818|581819|611667|679216|679217|679218|679219|679220|679221|679222|679223|679224|679225|679226|679227|679228|679229|679230|679231|679232|679233|679234|679235|679236|679237|679238|970059", "text": "Capillary malformation-arteriovenous malformation 2" }, { - "baseId": "581847", + "upstreamId": "581847", "text": "MUSCULAR DYSTROPHY, DUCHENNE TYPE" }, { - "baseId": "581847", + "upstreamId": "581847", "text": " DMD" }, { - "baseId": "581849|589983|589984|590019|590020", + "upstreamId": "581849|589983|589984|590019|590020", "text": "Hereditary lymphedema" }, { - "baseId": "581871|621042|622035|624879", + "upstreamId": "581871|621042|622035|624879", "text": "Deafness, autosomal dominant 76" }, { - "baseId": "581871", + "upstreamId": "581871", "text": "Autosomal dominant nonsyndromic hearing impairment" }, { - "baseId": "581884|976734", + "upstreamId": "581884|976734", "text": "Myasthenic syndrome, congenital, 23, presynaptic" }, { - "baseId": "581885", + "upstreamId": "581885", "text": "Immunodeficiency 15a" }, { - "baseId": "581886|581887|581888|581889|965447", + "upstreamId": "581886|581887|581888|581889|965447", "text": "Developmental and epileptic encephalopathy, 68" }, { - "baseId": "581890|581891|581892|581952|581953|581954|581955|590153|590154|590439", + "upstreamId": "581890|581891|581892|581952|581953|581954|581955|590153|590154|590439", "text": "Abnormal mitral valve physiology" }, { - "baseId": "581923|581924|581925|581927|714580", + "upstreamId": "581923|581924|581925|581927|714580", "text": "Myasthenic syndrome, congenital, 24, presynaptic" }, { - "baseId": "583092|798932|798942|798943|798944|798945|798948", + "upstreamId": "583092|798932|798942|798943|798944|798945|798948", "text": "Developmental and epileptic encephalopathy, 84" }, { - "baseId": "583102", + "upstreamId": "583102", "text": "ELN-related disorder" }, { - "baseId": "583111", + "upstreamId": "583111", "text": "ABCC8-related disorder" }, { - "baseId": "583171", + "upstreamId": "583171", "text": "Polydactyly, postaxial, type A9" }, { - "baseId": "583171", + "upstreamId": "583171", "text": "Postaxial polydactyly type A" }, { - "baseId": "583202|858669|858670", + "upstreamId": "583202|858669|858670", "text": "Nizon-Isidor syndrome" }, { - "baseId": "584608|961757", + "upstreamId": "584608|961757", "text": "Long chain acyl-CoA dehydrogenase deficiency" }, { - "baseId": "585229", + "upstreamId": "585229", "text": "OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS" }, { - "baseId": "586179|620218|620219|620220|620221|620222|620223", + "upstreamId": "586179|620218|620219|620220|620221|620222|620223", "text": "SYNE1-Related Disorders" }, { - "baseId": "588259|905844", + "upstreamId": "588259|905844", "text": "Deafness, autosomal recessive 93" }, { - "baseId": "589806", + "upstreamId": "589806", "text": "MAPK8IP3-related disorder" }, { - "baseId": "589806|620947|620949|620950|620951|791528|794181|794182|794183|794184|816482|904941|904942|920107|920108|920367", + "upstreamId": "589806|620947|620949|620950|620951|791528|794181|794182|794183|794184|816482|904941|904942|920107|920108|920367", "text": "Neurodevelopmental disorder with or without variable brain abnormalities" }, { - "baseId": "589806|620947|620949|620950|620951|791528|794181|794182|794183|794184|816482|904941|904942|920107|920108|920367", + "upstreamId": "589806|620947|620949|620950|620951|791528|794181|794182|794183|794184|816482|904941|904942|920107|920108|920367", "text": " NEDBA" }, { - "baseId": "589807|589816", + "upstreamId": "589807|589816", "text": "TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy" }, { - "baseId": "589808|589809", + "upstreamId": "589808|589809", "text": "TMEM94-related condition" }, { - "baseId": "589808|589809|609070|609071|609074|903624", + "upstreamId": "589808|589809|609070|609071|609074|903624", "text": "Intellectual developmental disorder with cardiac defects and dysmorphic facies" }, { - "baseId": "589811", + "upstreamId": "589811", "text": "SLC25A42-related mitochondrial encephalomyopathy" }, { - "baseId": "589814", + "upstreamId": "589814", "text": "AIFM1-related hypomyelination with spondylometaphyseal dysplasia" }, { - "baseId": "589843", + "upstreamId": "589843", "text": "CDK8-kinase module-associated disorder" }, { - "baseId": "590021|621032", + "upstreamId": "590021|621032", "text": "Cephalocele" }, { - "baseId": "590038", + "upstreamId": "590038", "text": "Protruding tongue" }, { - "baseId": "590038|590082", + "upstreamId": "590038|590082", "text": "Severe T-cell immunodeficiency" }, { - "baseId": "590077|590078", + "upstreamId": "590077|590078", "text": "Respiratory failure requiring assisted ventilation" }, { - "baseId": "590082", + "upstreamId": "590082", "text": "Aplasia of the thymus" }, { - "baseId": "590093", + "upstreamId": "590093", "text": "Cortical visual impairment" }, { - "baseId": "590099", + "upstreamId": "590099", "text": "Ectopic ossification" }, { - "baseId": "590099", + "upstreamId": "590099", "text": "Myositis" }, { - "baseId": "590117", + "upstreamId": "590117", "text": "Deafness, autosomal recessive 112" }, { - "baseId": "590120", + "upstreamId": "590120", "text": "INDIAN BLOOD GROUP SYSTEM POLYMORPHISM" }, { - "baseId": "590363", + "upstreamId": "590363", "text": "Spondyloepiphyseal dysplasia MIR140 type Nishimura" }, { - "baseId": "590363", + "upstreamId": "590363", "text": "Spondyloepiphyseal dysplasia, nishimura type" }, { - "baseId": "590365|590366|590369", + "upstreamId": "590365|590366|590369", "text": "Silver Russell Syndrome-related disorder" }, { - "baseId": "590367|920539|920540", + "upstreamId": "590367|920539|920540", "text": "Chromosome 17p13.3, centromeric, duplication syndrome" }, { - "baseId": "590370|613930|818576|961895", + "upstreamId": "590370|613930|818576|961895", "text": "Chromosome 22q11.2 deletion syndrome, distal" }, { - "baseId": "590371|590372|590373|590374|590375|590376", + "upstreamId": "590371|590372|590373|590374|590375|590376", "text": "Central centrifugal cicatricial alopecia" }, { - "baseId": "590377|590378", + "upstreamId": "590377|590378", "text": "Granulocytopenia with immunoglobulin abnormality" }, { - "baseId": "590432|590433|590434|590435", + "upstreamId": "590432|590433|590434|590435", "text": "Ciliary dyskinesia, primary, 39" }, { - "baseId": "590456", + "upstreamId": "590456", "text": "Orofaciodigital syndrome IX" }, { - "baseId": "590464|590465", + "upstreamId": "590464|590465", "text": "Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development" }, { - "baseId": "590475|590476|590477|590478|590479", + "upstreamId": "590475|590476|590477|590478|590479", "text": "Epidermodysplasia verruciformis, susceptibility to, 3" }, { - "baseId": "590482|590483|841957", + "upstreamId": "590482|590483|841957", "text": "Global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome" }, { - "baseId": "590518", + "upstreamId": "590518", "text": "Knee dislocation" }, { - "baseId": "590518", + "upstreamId": "590518", "text": "Limited knee flexion/extension" }, { - "baseId": "590518", + "upstreamId": "590518", "text": "Patellar hypoplasia" }, { - "baseId": "590545", + "upstreamId": "590545", "text": "Interphalangeal joint contracture of finger" }, { - "baseId": "590545", + "upstreamId": "590545", "text": "Increased number of skin folds" }, { - "baseId": "590545", + "upstreamId": "590545", "text": "Emphysema" }, { - "baseId": "590563", + "upstreamId": "590563", "text": "ACTL6B-related neurodevelopmental disorder" }, { - "baseId": "590594|590595|590596", + "upstreamId": "590594|590595|590596", "text": "Hypotrichosis 14" }, { - "baseId": "590597|590598|822315|822316|822317|822318|822319|970507|970512", + "upstreamId": "590597|590598|822315|822316|822317|822318|822319|970507|970512", "text": "Alopecia-mental retardation syndrome 4" }, { - "baseId": "590599|590600|590601", + "upstreamId": "590599|590600|590601", "text": "Mirror movements 4" }, { - "baseId": "590634|590635|590636", + "upstreamId": "590634|590635|590636", "text": "Severe combined immunodeficiency due to CD70 deficiency" }, { - "baseId": "590638|590639", + "upstreamId": "590638|590639", "text": "Pontocerebellar hypoplasia, type 12" }, { - "baseId": "590642|613398", + "upstreamId": "590642|613398", "text": "Lower Urinary Tract Obstruction" }, { - "baseId": "590642|613398", + "upstreamId": "590642|613398", "text": "Lower urinary tract obstruction, congenital" }, { - "baseId": "590666|590667|590668|590669|678076|919818|919819|919820|964918|966783", + "upstreamId": "590666|590667|590668|590669|678076|919818|919819|919820|964918|966783", "text": "Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations" }, { - "baseId": "590714|590715", + "upstreamId": "590714|590715", "text": "Fibrosis, neurodegeneration, and cerebral angiomatosis" }, { - "baseId": "590716|590717|590718|966718|966719", + "upstreamId": "590716|590717|590718|966718|966719", "text": "Aplasia/Hypoplasia of the cerebellum" }, { - "baseId": "590716", + "upstreamId": "590716", "text": "Motor polyneuropathy" }, { - "baseId": "590737|590740", + "upstreamId": "590737|590740", "text": "PISD-related mitochondrial disease" }, { - "baseId": "590737|590740|682217|861683", + "upstreamId": "590737|590740|682217|861683", "text": "Liberfarb syndrome" }, { - "baseId": "590738|590739", + "upstreamId": "590738|590739", "text": "Polydactyly, postaxial, type a10" }, { - "baseId": "590738|590739", + "upstreamId": "590738|590739", "text": "Autosomal recessive nonsyndromic postaxial polydactyly" }, { - "baseId": "590745", + "upstreamId": "590745", "text": "Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum" }, { - "baseId": "590746", + "upstreamId": "590746", "text": "Visual impairment and progressive phthisis bulbi" }, { - "baseId": "590747|590748|590749|590750|590751", + "upstreamId": "590747|590748|590749|590750|590751", "text": "Hyper-IgE recurrent infection syndrome 3, autosomal recessive" }, { - "baseId": "590769|590770|590771|965893", + "upstreamId": "590769|590770|590771|965893", "text": "Wolf-Hirschhorn like syndrome" }, { - "baseId": "590869|619908|619909", + "upstreamId": "590869|619908|619909", "text": "OCULOSKELETODENTAL SYNDROME" }, { - "baseId": "590985|590986", + "upstreamId": "590985|590986", "text": "Situs inversus" }, { - "baseId": "608807|608811|608812", + "upstreamId": "608807|608811|608812", "text": "Microphthalmia-ankyloblepharon-intellectual disability syndrome" }, { - "baseId": "608837|976708", + "upstreamId": "608837|976708", "text": "Intellectual developmental disorder, autosomal recessive 67" }, { - "baseId": "608839|966682", + "upstreamId": "608839|966682", "text": "Infantile fibrosarcoma" }, { - "baseId": "608841", + "upstreamId": "608841", "text": "Renal transitional cell carcinoma" }, { - "baseId": "608854", + "upstreamId": "608854", "text": "Mucocutaneous ulceration, chronic" }, { - "baseId": "608857|608858|608859|970820", + "upstreamId": "608857|608858|608859|970820", "text": "Developmental and epileptic encephalopathy, 70" }, { - "baseId": "608866|972744|972745|972755", + "upstreamId": "608866|972744|972745|972755", "text": "Kilquist syndrome" }, { - "baseId": "608875", + "upstreamId": "608875", "text": "Trigonocephaly-short stature-developmental delay syndrome" }, { - "baseId": "608922", + "upstreamId": "608922", "text": "Pervasive developmental disorder" }, { - "baseId": "608930|608931", + "upstreamId": "608930|608931", "text": "Deficiency of carnitine acetyltransferase" }, { - "baseId": "608933|625993|625994|625996|625997|625998|916979|970521|970842", + "upstreamId": "608933|625993|625994|625996|625997|625998|916979|970521|970842", "text": "O'Donnell-Luria-Rodan syndrome" }, { - "baseId": "608999|609000|609001|971114", + "upstreamId": "608999|609000|609001|971114", "text": "Intellectual developmental disorder, autosomal recessive 68" }, { - "baseId": "609006", + "upstreamId": "609006", "text": "Autosomal dominant omodysplasia" }, { - "baseId": "609007", + "upstreamId": "609007", "text": "Epidermodysplasia verruciformis, susceptibility to, 4" }, { - "baseId": "609020|676979|676980|676981|676982|964232|964819", + "upstreamId": "609020|676979|676980|676981|676982|964232|964819", "text": "Developmental and epileptic encephalopathy, 78" }, { - "baseId": "609026", + "upstreamId": "609026", "text": "Mitochondrial hepato-encephalopathy" }, { - "baseId": "609034", + "upstreamId": "609034", "text": "myoglobinopathy" }, { - "baseId": "609036|609079", + "upstreamId": "609036|609079", "text": "Hyperostosis" }, { - "baseId": "609044|609045|609046|610696|918545|920124|980298", + "upstreamId": "609044|609045|609046|610696|918545|920124|980298", "text": "Hypomagnesemia, seizures, and mental retardation 2" }, { - "baseId": "609068", + "upstreamId": "609068", "text": "Diamond-Blackfan anemia 20" }, { - "baseId": "609069", + "upstreamId": "609069", "text": "Diamond-Blackfan anemia 18" }, { - "baseId": "609075", + "upstreamId": "609075", "text": "Diamond-Blackfan anemia 19" }, { - "baseId": "609078", + "upstreamId": "609078", "text": "nonsyndromic sensorineural hearing loss" }, { - "baseId": "609092|609093|609094|609095|609096|609097|609098|609099|609100|679909|679910|679911|679912|679913|679914|679915|679916|679917|679918|679919|679920|679921|679922|679923|679924|679925", + "upstreamId": "609092|609093|609094|609095|609096|609097|609098|609099|609100|679909|679910|679911|679912|679913|679914|679915|679916|679917|679918|679919|679920|679921|679922|679923|679924|679925", "text": "Basal ganglia calcification, idiopathic, 7, autosomal recessive" }, { - "baseId": "609141|609142|858296|858300", + "upstreamId": "609141|609142|858296|858300", "text": "Spermatogenesis maturation arrest" }, { - "baseId": "609143", + "upstreamId": "609143", "text": "Abnormal morphology of left ventricular trabeculae" }, { - "baseId": "609143", + "upstreamId": "609143", "text": "Atrial flutter" }, { - "baseId": "609143", + "upstreamId": "609143", "text": "Tachycardia" }, { - "baseId": "609149|918533", + "upstreamId": "609149|918533", "text": "Glioma" }, { - "baseId": "609153|609154|609155|609156|609157|966184", + "upstreamId": "609153|609154|609155|609156|609157|966184", "text": "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2" }, { - "baseId": "609185", + "upstreamId": "609185", "text": "Progressive cone degeneration" }, { - "baseId": "609186|610418", + "upstreamId": "609186|610418", "text": "Distal hereditary motor neuropathy associated with upper motor neuron signs" }, { - "baseId": "609187", + "upstreamId": "609187", "text": "Sperm tail anomaly" }, { - "baseId": "609187|615983|615984|615985|615986", + "upstreamId": "609187|615983|615984|615985|615986", "text": "Spermatogenic failure 38" }, { - "baseId": "609302|609303", + "upstreamId": "609302|609303", "text": "SPINOCEREBELLAR ATAXIA 47, EARLY-ONSET" }, { - "baseId": "609302|609303|609304|916823|961251|964155|972709|973017", + "upstreamId": "609302|609303|609304|916823|961251|964155|972709|973017", "text": "Spinocerebellar ataxia 47" }, { - "baseId": "610388|610389|610390|610391|610392|610393|861584|965738", + "upstreamId": "610388|610389|610390|610391|610392|610393|861584|965738", "text": "Global developmental delay with or without impaired intellectual development" }, { - "baseId": "610394|610395|610396", + "upstreamId": "610394|610395|610396", "text": "Developmental and epileptic encephalopathy, 71" }, { - "baseId": "610409|610585|966157|966158", + "upstreamId": "610409|610585|966157|966158", "text": "Congenital titinopathy" }, { - "baseId": "610414", + "upstreamId": "610414", "text": "IMMUNODEFICIENCY 33, MALE-RESTRICTED" }, { - "baseId": "610429", + "upstreamId": "610429", "text": "ROSAH syndrome" }, { - "baseId": "610429", + "upstreamId": "610429", "text": "Splenomegaly, cytopenia, and vision loss" }, { - "baseId": "610431|610432|610433", + "upstreamId": "610431|610432|610433", "text": "Congenital disorder of glycosylation with defective fucosylation 2" }, { - "baseId": "610478", + "upstreamId": "610478", "text": "Weakened expression of D antigen" }, { - "baseId": "610501", + "upstreamId": "610501", "text": "Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development" }, { - "baseId": "610512|610513|962971|962972", + "upstreamId": "610512|610513|962971|962972", "text": "Spermatogenic failure 35" }, { - "baseId": "610530|610531", + "upstreamId": "610530|610531", "text": "Aganglionosis, total intestinal" }, { - "baseId": "610586", + "upstreamId": "610586", "text": "Primary progressive non fluent aphasia" }, { - "baseId": "610586|858706|858714", + "upstreamId": "610586|858706|858714", "text": "Corticobasal syndrome" }, { - "baseId": "610591", + "upstreamId": "610591", "text": "Abnormality of the outer ear" }, { - "baseId": "610591|613436", + "upstreamId": "610591|613436", "text": "Turnpenny-fry syndrome" }, { - "baseId": "610596|610597|610598", + "upstreamId": "610596|610597|610598", "text": "Peritoneal mesothelioma" }, { - "baseId": "610614", + "upstreamId": "610614", "text": "Primary Ciliary Dyskinesia (DNAH5-related)" }, { - "baseId": "610625", + "upstreamId": "610625", "text": "POLYMICROGYRIA WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME" }, { - "baseId": "610628|610629|610630|610631|610632|792602|792612|798580", + "upstreamId": "610628|610629|610630|610631|610632|792602|792612|798580", "text": "Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature" }, { - "baseId": "610634", + "upstreamId": "610634", "text": "Retinitis pigmentosa 85" }, { - "baseId": "610695|610896|610898", + "upstreamId": "610695|610896|610898", "text": "Mitochondrial complex 3 deficiency, nuclear type 10" }, { - "baseId": "610993", + "upstreamId": "610993", "text": "Microcephaly 25, primary, autosomal recessive" }, { - "baseId": "610994|610995|676994", + "upstreamId": "610994|610995|676994", "text": "Oocyte maturation defect 6" }, { - "baseId": "610998", + "upstreamId": "610998", "text": "Microcephaly, growth deficiency, seizures, and brain malformations" }, { - "baseId": "611003", + "upstreamId": "611003", "text": "Galloway-Mowat syndrome" }, { - "baseId": "611004", + "upstreamId": "611004", "text": "HOLOPROSENCEPHALY 12 WITH OR WITHOUT PANCREATIC AGENESIS" }, { - "baseId": "611341", + "upstreamId": "611341", "text": "Galloway-Mowat syndrome 8" }, { - "baseId": "611366", + "upstreamId": "611366", "text": "Episodic coma" }, { - "baseId": "611406|789352|789353|789355", + "upstreamId": "611406|789352|789353|789355", "text": "Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures" }, { - "baseId": "611606", + "upstreamId": "611606", "text": "NAA15-related syndrome" }, { - "baseId": "611868|798966|798967|798969|798970|919758|964052|983558|983801", + "upstreamId": "611868|798966|798967|798969|798970|919758|964052|983558|983801", "text": "Intellectual developmental disorder 61" }, { - "baseId": "611973", + "upstreamId": "611973", "text": "Androgen deprivation therapy response" }, { - "baseId": "611998", + "upstreamId": "611998", "text": "Undifferentiated pleomorphic sarcoma" }, { - "baseId": "612012", + "upstreamId": "612012", "text": "Mixed Phenotype Acute Leukemia with t(v" }, { - "baseId": "612021", + "upstreamId": "612021", "text": "Glioblastoma multiforme" }, { - "baseId": "612041|612042|612043|964715|964716", + "upstreamId": "612041|612042|612043|964715|964716", "text": "Neurodevelopmental disorder with central and peripheral motor dysfunction" }, { - "baseId": "612044|612045|612046|612047|612048", + "upstreamId": "612044|612045|612046|612047|612048", "text": "Cone-rod dystrophy and hearing loss 2" }, { - "baseId": "612105", + "upstreamId": "612105", "text": "Hereditary renal cancer" }, { - "baseId": "612121|612200", + "upstreamId": "612121|612200", "text": "FLNA related lung disease" }, { - "baseId": "612202|855079|855080", + "upstreamId": "612202|855079|855080", "text": "Holoprosencephaly 13, x-linked" }, { - "baseId": "612210|612211|612212|612213|612214|798658|919458|919459|920319|964395|965739|967279|975867", + "upstreamId": "612210|612211|612212|612213|612214|798658|919458|919459|920319|964395|965739|967279|975867", "text": "Coffin-Siris syndrome 8" }, { - "baseId": "612215|612216|612217|612218|612219", + "upstreamId": "612215|612216|612217|612218|612219", "text": "Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis" }, { - "baseId": "612222|612226|612227|612229|612230|861582|972797", + "upstreamId": "612222|612226|612227|612229|612230|861582|972797", "text": "Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities" }, { - "baseId": "612462", + "upstreamId": "612462", "text": "Myoclonus, familial, 2" }, { - "baseId": "612463|612464|612465|612466|906271", + "upstreamId": "612463|612464|612465|612466|906271", "text": "Brain small vessel disease 3" }, { - "baseId": "613175|861430|919931", + "upstreamId": "613175|861430|919931", "text": "Spastic tetraplegia and axial hypotonia, progressive" }, { - "baseId": "613392|614438|614439|816342|980483|980484", + "upstreamId": "613392|614438|614439|816342|980483|980484", "text": "Asthma, nasal polyps, and aspirin intolerance" }, { - "baseId": "613437|613438|613439", + "upstreamId": "613437|613438|613439", "text": "Spinocerebellar ataxia, autosomal recessive 27" }, { - "baseId": "613444|613445|613446|613448|613449|613450|613451|613452|613453", + "upstreamId": "613444|613445|613446|613448|613449|613450|613451|613452|613453", "text": "Dyschromatosis universalis hereditaria 1" }, { - "baseId": "613484|613485", + "upstreamId": "613484|613485", "text": "Developmental and epileptic encephalopathy, 72" }, { - "baseId": "613491|613492", + "upstreamId": "613491|613492", "text": "Developmental and epileptic encephalopathy, 73" }, { - "baseId": "613511", + "upstreamId": "613511", "text": "Combined oxidative phosphorylation deficiency 38" }, { - "baseId": "613515|613516|613517|613518", + "upstreamId": "613515|613516|613517|613518", "text": "Thiopurine response" }, { - "baseId": "613521", + "upstreamId": "613521", "text": "Abnormality of the urinary system" }, { - "baseId": "613528|613529", + "upstreamId": "613528|613529", "text": "Intellectual developmental disorder, autosomal recessive 69" }, { - "baseId": "613534|801191|801221", + "upstreamId": "613534|801191|801221", "text": "Abnormality of metabolism/homeostasis" }, { - "baseId": "613536|613536|613537|613537", + "upstreamId": "613536|613536|613537|613537", "text": "Sparse hair" }, { - "baseId": "613552", + "upstreamId": "613552", "text": "Male infertility due to obstructive azoospermia" }, { - "baseId": "613613", + "upstreamId": "613613", "text": "MYO16-associated developmental delay" }, { - "baseId": "613730|613731|613732|682209|682210", + "upstreamId": "613730|613731|613732|682209|682210", "text": "Amelogenesis imperfecta, type 3c" }, { - "baseId": "613733|613734|613735", + "upstreamId": "613733|613734|613735", "text": "Mental retardation, short stature, facial anomalies, and joint dislocations" }, { - "baseId": "613738|613739|613740", + "upstreamId": "613738|613739|613740", "text": "Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate" }, { - "baseId": "613762|613763|800922|964877|964878", + "upstreamId": "613762|613763|800922|964877|964878", "text": "Spondyloepiphyseal dysplasia, kondo-fu type" }, { - "baseId": "613772", + "upstreamId": "613772", "text": "Deafness, Y-linked 2" }, { - "baseId": "613773|613774|613775", + "upstreamId": "613773|613774|613775", "text": "Fetal akinesia deformation sequence 4" }, { - "baseId": "613833", + "upstreamId": "613833", "text": "GNAS-related disorder" }, { - "baseId": "613860", + "upstreamId": "613860", "text": "Chromosome 10q26 deletion syndrome" }, { - "baseId": "613880|613881|613903|613981|613990|614058", + "upstreamId": "613880|613881|613903|613981|613990|614058", "text": "Chromosome 16p12.1 deletion syndrome, 520kb" }, { - "baseId": "613882|613884", + "upstreamId": "613882|613884", "text": "Chromosome 17p13.3, telomeric, duplication syndrome" }, { - "baseId": "613886|613887|613888|613889|613891|613892|613893|613894|613923|613926|613985|614111|624097|624098|624099|624100|969292", + "upstreamId": "613886|613887|613888|613889|613891|613892|613893|613894|613923|613926|613985|614111|624097|624098|624099|624100|969292", "text": "Chromosome 22q11.2 microduplication syndrome" }, { - "baseId": "613904|613905", + "upstreamId": "613904|613905", "text": "Chromosome 16p11.2 deletion syndrome, 220 kb" }, { - "baseId": "613907|613908|613911|613912|613914", + "upstreamId": "613907|613908|613911|613912|613914", "text": "Chromosome 16p11.2 duplication syndrome" }, { - "baseId": "613949", + "upstreamId": "613949", "text": "Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism" }, { - "baseId": "614005|614006|904210", + "upstreamId": "614005|614006|904210", "text": "5p partial monosomy syndrome" }, { - "baseId": "614027", + "upstreamId": "614027", "text": "Chromosome 16p13.3 duplication syndrome" }, { - "baseId": "614070|614071|614072|653991|962878", + "upstreamId": "614070|614071|614072|653991|962878", "text": "Chromosome 1p36 deletion syndrome" }, { - "baseId": "614101", + "upstreamId": "614101", "text": "Mental retardation 91, X-linked" }, { - "baseId": "614140|614141", + "upstreamId": "614140|614141", "text": "Congenital disorder of glycosylation, type ICC" }, { - "baseId": "614147|614148|977223", + "upstreamId": "614147|614148|977223", "text": "Immunodeficiency 60" }, { - "baseId": "614149|614150", + "upstreamId": "614149|614150", "text": "Spondyloepimetaphyseal dysplasia with joint laxity, type 3" }, { - "baseId": "614156|614656|614657|614659|614660|614661|614662|794176|794177|794178|794179|794180", + "upstreamId": "614156|614656|614657|614659|614660|614661|614662|794176|794177|794178|794179|794180", "text": "Leukodystrophy, hypomyelinating, 18" }, { - "baseId": "614176|614176|614177", + "upstreamId": "614176|614176|614177", "text": "Progressive bifocal chorioretinal atrophy" }, { - "baseId": "614273", + "upstreamId": "614273", "text": "Age-related macular degeneration 13" }, { - "baseId": "614310|614524", + "upstreamId": "614310|614524", "text": "Thromboxane synthetase deficiency" }, { - "baseId": "614505", + "upstreamId": "614505", "text": "Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema" }, { - "baseId": "614518", + "upstreamId": "614518", "text": "Immunodeficiency 61" }, { - "baseId": "614546|614547|614548", + "upstreamId": "614546|614547|614548", "text": "Subcutaneous panniculitis-like T-cell lymphoma" }, { - "baseId": "614569|614570", + "upstreamId": "614569|614570", "text": "Intellectual developmental disorder, autosomal recessive 70" }, { - "baseId": "614619", + "upstreamId": "614619", "text": "Deletion of long arm of chromosome 18" }, { - "baseId": "614654|614655", + "upstreamId": "614654|614655", "text": "Deafness, autosomal recessive 113" }, { - "baseId": "614666|614667|614668", + "upstreamId": "614666|614667|614668", "text": "Global developmental delay, progressive ataxia, and elevated glutamine" }, { - "baseId": "615238", + "upstreamId": "615238", "text": "Preaxial hand polydactyly" }, { - "baseId": "615270|615271|615272", + "upstreamId": "615270|615271|615272", "text": "Cataract 48" }, { - "baseId": "615421", + "upstreamId": "615421", "text": "Pulmonary embolism (disease)" }, { - "baseId": "615445|615446|615447|615448", + "upstreamId": "615445|615446|615447|615448", "text": "Prolonged prothrombin time" }, { - "baseId": "615447|620402", + "upstreamId": "615447|620402", "text": "F2-Related Disorders" }, { - "baseId": "615449|615450|615451|615452|615453|615454|615575|615585|615592|615605|615728|615729|615730|615754|615755", + "upstreamId": "615449|615450|615451|615452|615453|615454|615575|615585|615592|615605|615728|615729|615730|615754|615755", "text": "Abnormal platelet aggregation" }, { - "baseId": "615606|615607", + "upstreamId": "615606|615607", "text": "Impaired thromboxane A2 agonist-induced platelet aggregation" }, { - "baseId": "615652", + "upstreamId": "615652", "text": "Thrombotic stroke" }, { - "baseId": "615768|615769", + "upstreamId": "615768|615769", "text": "Congenital myopathy with reduced type 2 muscle fibers" }, { - "baseId": "615778|615779|615780", + "upstreamId": "615778|615779|615780", "text": "Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy" }, { - "baseId": "615778|615779|615780", + "upstreamId": "615778|615779|615780", "text": "Spermatogenic failure 36" }, { - "baseId": "615877", + "upstreamId": "615877", "text": "Deafness, autosomal recessive 100" }, { - "baseId": "615897|615898|615899|615900|615902|798497", + "upstreamId": "615897|615898|615899|615900|615902|798497", "text": "Neurodevelopmental disorder with impaired speech and hyperkinetic movements" }, { - "baseId": "615906|615907|615908|615909|615910|615911|677048|677049|815990|920546", + "upstreamId": "615906|615907|615908|615909|615910|615911|677048|677049|815990|920546", "text": "Spastic paraplegia 80, autosomal dominant" }, { - "baseId": "615926|615927|615928|615929|615930", + "upstreamId": "615926|615927|615928|615929|615930", "text": "Spermatogenic failure 37" }, { - "baseId": "615931|615932|615933", + "upstreamId": "615931|615932|615933", "text": "Hydatidiform mole, recurrent, 3" }, { - "baseId": "615980|615981", + "upstreamId": "615980|615981", "text": "Hydatidiform mole, recurrent, 4" }, { - "baseId": "615987|615988|615989|615990|615991", + "upstreamId": "615987|615988|615989|615990|615991", "text": "X-linked intellectual disability, Van Esch type" }, { - "baseId": "615987|615988|615989|615990|615991|798812", + "upstreamId": "615987|615988|615989|615990|615991|798812", "text": "VAN ESCH-O''''DRISCOLL SYNDROME" }, { - "baseId": "616002|616003|616004", + "upstreamId": "616002|616003|616004", "text": "9q34 microduplication syndrome" }, { - "baseId": "616822|967178", + "upstreamId": "616822|967178", "text": "Arrhythmogenic right ventricular dysplasia, type 5" }, { - "baseId": "619849|805141|964745", + "upstreamId": "619849|805141|964745", "text": "Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies" }, { - "baseId": "619918|620007|620725", + "upstreamId": "619918|620007|620725", "text": "PCSK9-Related Disorders" }, { - "baseId": "619922|620310", + "upstreamId": "619922|620310", "text": "C8orf37-Related Disorders" }, { - "baseId": "619944|620702", + "upstreamId": "619944|620702", "text": "COL11A1-Related Disorders" }, { - "baseId": "619958", + "upstreamId": "619958", "text": "MPZ-Related Disorders" }, { - "baseId": "619990|620714", + "upstreamId": "619990|620714", "text": "HSPG2-Related Disorders" }, { - "baseId": "619991", + "upstreamId": "619991", "text": "RAB3GAP2-Related Disorders" }, { - "baseId": "619996", + "upstreamId": "619996", "text": "FH-Related Disorders" }, { - "baseId": "620011", + "upstreamId": "620011", "text": "PGM1-Related Disorders" }, { - "baseId": "620012|620726", + "upstreamId": "620012|620726", "text": "LEPR-Related Disorders" }, { - "baseId": "620014|620015", + "upstreamId": "620014|620015", "text": "NEXN-Related Disorders" }, { - "baseId": "620035", + "upstreamId": "620035", "text": "CACNB4-Related Disorders" }, { - "baseId": "620076", + "upstreamId": "620076", "text": "POMC-Related Disorders" }, { - "baseId": "620089", + "upstreamId": "620089", "text": "FSHR-Related Disorders" }, { - "baseId": "620116", + "upstreamId": "620116", "text": "Congenital sucrose-isomaltase deficiency" }, { - "baseId": "620152|620153|620154", + "upstreamId": "620152|620153|620154", "text": "FGA-Related Disorders" }, { - "baseId": "620159", + "upstreamId": "620159", "text": "CYP4V2-Related Disorders" }, { - "baseId": "620172", + "upstreamId": "620172", "text": "PDE6B-Related Disorders" }, { - "baseId": "620181", + "upstreamId": "620181", "text": "TERT-Related Disorders" }, { - "baseId": "620189", + "upstreamId": "620189", "text": "ANKH-Related Disorders" }, { - "baseId": "620214|620785", + "upstreamId": "620214|620785", "text": "ENPP1-Related Disorders" }, { - "baseId": "620228", + "upstreamId": "620228", "text": "TULP1-Related Disorders" }, { - "baseId": "620242", + "upstreamId": "620242", "text": "COL9A1-Related Disorders" }, { - "baseId": "620249", + "upstreamId": "620249", "text": "IMPDH1-Related Disorders" }, { - "baseId": "620269", + "upstreamId": "620269", "text": "HSPB1-Related Disorders" }, { - "baseId": "620280|961516", + "upstreamId": "620280|961516", "text": "COL1A2-Related Disorders" }, { - "baseId": "620316", + "upstreamId": "620316", "text": "DFNB31-Related Disorders" }, { - "baseId": "620319|620320", + "upstreamId": "620319|620320", "text": "GLE1-Related Disorders" }, { - "baseId": "620329", + "upstreamId": "620329", "text": "VCP-Related Disorders" }, { - "baseId": "620331|620332", + "upstreamId": "620331|620332", "text": "TPM2-Related Disorders" }, { - "baseId": "620336", + "upstreamId": "620336", "text": "TMC1-Related Disorders" }, { - "baseId": "620366", + "upstreamId": "620366", "text": "PCDH15-Related Disorders" }, { - "baseId": "620377|620378", + "upstreamId": "620377|620378", "text": "MMP13-Related Disorders" }, { - "baseId": "620398", + "upstreamId": "620398", "text": "CSRP3-Related Disorders" }, { - "baseId": "620416|620417", + "upstreamId": "620416|620417", "text": "NDUFV1-Related Disorders" }, { - "baseId": "620455|620851", + "upstreamId": "620455|620851", "text": "SCNN1A-Related Disorders" }, { - "baseId": "620475", + "upstreamId": "620475", "text": "EDNRB-Related Disorders" }, { - "baseId": "620480", + "upstreamId": "620480", "text": "MYH6-Related Disorders" }, { - "baseId": "620488", + "upstreamId": "620488", "text": "LTBP2-Related Disorders" }, { - "baseId": "620495", + "upstreamId": "620495", "text": "TSHR-Related Disorders" }, { - "baseId": "620526", + "upstreamId": "620526", "text": "MAP2K1-Related Disorders" }, { - "baseId": "620571", + "upstreamId": "620571", "text": "SCO1-Related Disorders" }, { - "baseId": "620637", + "upstreamId": "620637", "text": "RAX2-Related Disorders" }, { - "baseId": "620718|620719|620720", + "upstreamId": "620718|620719|620720", "text": "SDCCAG8-Related Disorders" }, { - "baseId": "620794", + "upstreamId": "620794", "text": "SLC17A5-Related Disorders" }, { - "baseId": "620829", + "upstreamId": "620829", "text": "MFRP-related disorders" }, { - "baseId": "620833", + "upstreamId": "620833", "text": "NDUFS3-Related Disorders" }, { - "baseId": "620916", + "upstreamId": "620916", "text": "MKKS-Related Disorders" }, { - "baseId": "620927", + "upstreamId": "620927", "text": "LARGE-related disorders" }, { - "baseId": "620933", + "upstreamId": "620933", "text": "Spastic ataxia 9, autosomal recessive" }, { - "baseId": "620946|679339", + "upstreamId": "620946|679339", "text": "Aminoaciduria" }, { - "baseId": "621018|621023|621033", + "upstreamId": "621018|621023|621033", "text": "Isolated unilateral hemispheric cerebellar hypoplasia" }, { - "baseId": "621019", + "upstreamId": "621019", "text": "Syndrome with a Dandy-Walker malformation as major feature" }, { - "baseId": "621033", + "upstreamId": "621033", "text": "Grade I preterm intraventricular hemorrhage" }, { - "baseId": "621884", + "upstreamId": "621884", "text": "Ciliary dyskinesia, primary, 41" }, { - "baseId": "621892|621893|682169|682170", + "upstreamId": "621892|621893|682169|682170", "text": "NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA" }, { - "baseId": "621892|621893|682169|682170", + "upstreamId": "621892|621893|682169|682170", "text": "Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia" }, { - "baseId": "621899|621900", + "upstreamId": "621899|621900", "text": "Adrenal insufficiency" }, { - "baseId": "622023", + "upstreamId": "622023", "text": "Intellectual developmental disorder with short stature and variable skeletal anomalies" }, { - "baseId": "622024|622025|622026|622027", + "upstreamId": "622024|622025|622026|622027", "text": "Diabetes" }, { - "baseId": "622029", + "upstreamId": "622029", "text": "Ocular melanocytosis" }, { - "baseId": "622031", + "upstreamId": "622031", "text": "Deafness, autosomal recessive 114" }, { - "baseId": "622041|622148|622207", + "upstreamId": "622041|622148|622207", "text": "Suleiman-El-Hattab syndrome" }, { - "baseId": "622044|622045|963341|984052|984053|984057", + "upstreamId": "622044|622045|963341|984052|984053|984057", "text": "Cryptozoospermia" }, { - "baseId": "622046", + "upstreamId": "622046", "text": "Early spermatogenesis maturation arrest" }, { - "baseId": "622081|622082", + "upstreamId": "622081|622082", "text": "Immunodeficiency 62" }, { - "baseId": "622129", + "upstreamId": "622129", "text": "Paganini-Miozzo syndrome" }, { - "baseId": "622130|622131|622132", + "upstreamId": "622130|622131|622132", "text": "Khan-Khan-Katsanis syndrome" }, { - "baseId": "622148", + "upstreamId": "622148", "text": "Distinctive facial features" }, { - "baseId": "622207", + "upstreamId": "622207", "text": "Happy demeanor" }, { - "baseId": "622215", + "upstreamId": "622215", "text": "Bleeding disorder, platelet-type, 22" }, { - "baseId": "622275|622280|622282|622283|622284|622285|622286|622290|622297", + "upstreamId": "622275|622280|622282|622283|622284|622285|622286|622290|622297", "text": "CYP2C19: uncertain function" }, { - "baseId": "622276|622281|622288|622291|622294", + "upstreamId": "622276|622281|622288|622291|622294", "text": "CYP2C19: normal function" }, { - "baseId": "622304", + "upstreamId": "622304", "text": "Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" }, { - "baseId": "622488", + "upstreamId": "622488", "text": "Autosomal recessive sideroblastic anemia" }, { - "baseId": "622499", + "upstreamId": "622499", "text": "CD99 Positive Neoplastic Cells Present" }, { - "baseId": "622716|622717|622718|622719|622720|858633|962057|963642|964296|970869|972720|980332", + "upstreamId": "622716|622717|622718|622719|622720|858633|962057|963642|964296|970869|972720|980332", "text": "Developmental delay with or without dysmorphic facies and autism" }, { - "baseId": "622726|622727|622728", + "upstreamId": "622726|622727|622728", "text": "Uridine-cytidineuria" }, { - "baseId": "622738", + "upstreamId": "622738", "text": "Hereditary factor XIII deficiency disease" }, { - "baseId": "622741", + "upstreamId": "622741", "text": "Third degree atrioventricular block" }, { - "baseId": "622759", + "upstreamId": "622759", "text": "Zimmermann-Laband syndrome with epileptic encephalopathy" }, { - "baseId": "622766|622767|622768|622769|622770", + "upstreamId": "622766|622767|622768|622769|622770", "text": "Cerebellar, ocular, craniofacial, and genital syndrome" }, { - "baseId": "622849|961999", + "upstreamId": "622849|961999", "text": "Heterotaxy, visceral, 9, autosomal, with male infertility" }, { - "baseId": "622850|622851", + "upstreamId": "622850|622851", "text": "Dynein arm defect of respiratory motile cilia" }, { - "baseId": "622850", + "upstreamId": "622850", "text": "Recurrent bronchitis" }, { - "baseId": "622851", + "upstreamId": "622851", "text": "Bronchiectasis" }, { - "baseId": "622851", + "upstreamId": "622851", "text": "Abnormal ciliary motility" }, { - "baseId": "622938|622939|622940|622941|622942|679879|679880|679881|679882|679883|679884|816516|816517|816518", + "upstreamId": "622938|622939|622940|622941|622942|679879|679880|679881|679882|679883|679884|816516|816517|816518", "text": "ACTL6B-related recessive epilepsy" }, { - "baseId": "622961|622962|622963|622964|622965", + "upstreamId": "622961|622962|622963|622964|622965", "text": "Paragangliomas 6" }, { - "baseId": "622968", + "upstreamId": "622968", "text": "Paragangliomas 7" }, { - "baseId": "622996", + "upstreamId": "622996", "text": "Infantile nystagmus with foveal hypoplasia" }, { - "baseId": "622997", + "upstreamId": "622997", "text": "Infantile osteopetrosis" }, { - "baseId": "622999", + "upstreamId": "622999", "text": "Retinitis pigmentosa, juvenile" }, { - "baseId": "623001", + "upstreamId": "623001", "text": "Galactokinase deficiency with cataracts" }, { - "baseId": "623004|623007", + "upstreamId": "623004|623007", "text": "Cavernous sinus meningioma" }, { - "baseId": "623009", + "upstreamId": "623009", "text": "Oligodendroglioma, anaplastic" }, { - "baseId": "623010", + "upstreamId": "623010", "text": "Adult spinal cord ependymoma" }, { - "baseId": "623011|623012", + "upstreamId": "623011|623012", "text": "Chordoma" }, { - "baseId": "623019", + "upstreamId": "623019", "text": "Nanophthalmos 1" }, { - "baseId": "623022|623023|623024|623025|623026|623027|970808", + "upstreamId": "623022|623023|623024|623025|623026|623027|970808", "text": "Generalized epilepsy with febrile seizures plus, type 10" }, { - "baseId": "623029|623030", + "upstreamId": "623029|623030", "text": "Pili torti-developmental delay-neurological abnormalities syndrome" }, { - "baseId": "623097", + "upstreamId": "623097", "text": "buprenorphine response - Efficacy" }, { - "baseId": "623114", + "upstreamId": "623114", "text": "1p13.3 deletion syndrome" }, { - "baseId": "623115|682370", + "upstreamId": "623115|682370", "text": "Epilepsy, familial adult myoclonic, 3" }, { - "baseId": "623119", + "upstreamId": "623119", "text": "Doughnut lesions of skull, familial" }, { - "baseId": "623120|623121", + "upstreamId": "623120|623121", "text": "CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY AND SPONDYLOMETAPHYSEAL DYSPLASIA" }, { - "baseId": "623152|623153", + "upstreamId": "623152|623153", "text": "Ataxia telangiectasi" }, { - "baseId": "623154", + "upstreamId": "623154", "text": "Xeroderma pigmentosum, group E, DDB-negative subtype" }, { - "baseId": "623166", + "upstreamId": "623166", "text": "Crisponi/Cold-induced sweating syndrome" }, { - "baseId": "623225|623226|623227", + "upstreamId": "623225|623226|623227", "text": "Neurodevelopmental disorder with microcephaly and structural brain anomalies" }, { - "baseId": "623603|967252", + "upstreamId": "623603|967252", "text": "Blepharophimosis" }, { - "baseId": "623610|623611", + "upstreamId": "623610|623611", "text": "Nephrotic syndrome, type 20" }, { - "baseId": "623612|623613|623614", + "upstreamId": "623612|623613|623614", "text": "Noonan syndrome 11" }, { - "baseId": "623626|623627|623628|623629|623630", + "upstreamId": "623626|623627|623628|623629|623630", "text": "Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities" }, { - "baseId": "623644|623645|623646|623647", + "upstreamId": "623644|623645|623646|623647", "text": "Immunodeficiency 63 with lymphoproliferation and autoimmunity" }, { - "baseId": "623648|623649|623650|623651|777803|777804|790882|790883", + "upstreamId": "623648|623649|623650|623651|777803|777804|790882|790883", "text": "Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements" }, { - "baseId": "623663", + "upstreamId": "623663", "text": "Microlissencephaly" }, { - "baseId": "623676|623728|623765|623777", + "upstreamId": "623676|623728|623765|623777", "text": "Internal malformations" }, { - "baseId": "623685", + "upstreamId": "623685", "text": "Kidney disease" }, { - "baseId": "623695|623696|623717|623721|623737|623770", + "upstreamId": "623695|623696|623717|623721|623737|623770", "text": "Growth abnormality" }, { - "baseId": "623758", + "upstreamId": "623758", "text": "Arthrogryphosis" }, { - "baseId": "623775|623778", + "upstreamId": "623775|623778", "text": "Muscle dystrophy" }, { - "baseId": "623782|623783|802095|861284|967249", + "upstreamId": "623782|623783|802095|861284|967249", "text": "Lower limb spasticity" }, { - "baseId": "623782|623783", + "upstreamId": "623782|623783", "text": "Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly" }, { - "baseId": "624049", + "upstreamId": "624049", "text": "SPTBN1-related neurodevelopmental disease" }, { - "baseId": "624051|624066", + "upstreamId": "624051|624066", "text": "GP130-deficient hyper-IgE syndrome" }, { - "baseId": "624056", + "upstreamId": "624056", "text": "NBEA-related developmental delay and generalized epilepsy" }, { - "baseId": "624062", + "upstreamId": "624062", "text": "LONP1-related condition" }, { - "baseId": "624076|624077|800762", + "upstreamId": "624076|624077|800762", "text": "Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy" }, { - "baseId": "624083|624084", + "upstreamId": "624083|624084", "text": "Intellectual developmental disorder, autosomal recessive 71" }, { - "baseId": "624101|624102|624103|624104|624105", + "upstreamId": "624101|624102|624103|624104|624105", "text": "22q11.2 central deletion syndrome" }, { - "baseId": "624106|624107", + "upstreamId": "624106|624107", "text": "22q11.2 central duplication syndrome" }, { - "baseId": "624108|624109", + "upstreamId": "624108|624109", "text": "22q11.2 distal duplication syndrome" }, { - "baseId": "624839", + "upstreamId": "624839", "text": "Reduced factor IX activity" }, { - "baseId": "624841|816385|816386|980500", + "upstreamId": "624841|816385|816386|980500", "text": "Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal" }, { - "baseId": "624881|625774", + "upstreamId": "624881|625774", "text": "Sclerocornea" }, { - "baseId": "624881|822308", + "upstreamId": "624881|822308", "text": "Microcornea" }, { - "baseId": "625455", + "upstreamId": "625455", "text": "Neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers" }, { - "baseId": "625774", + "upstreamId": "625774", "text": "Congenital cornea plana" }, { - "baseId": "625778", + "upstreamId": "625778", "text": "Ataxia with Dysarthria" }, { - "baseId": "625780", + "upstreamId": "625780", "text": "Cholangiocarcinoma" }, { - "baseId": "625900|625901|625902|625903|625904|625905|625906|625907|625908|625909|625910|970254|970304|970305|970308|970309", + "upstreamId": "625900|625901|625902|625903|625904|625905|625906|625907|625908|625909|625910|970254|970304|970305|970308|970309", "text": "Sponastrime dysplasia" }, { - "baseId": "625907|625908|626374|626375", + "upstreamId": "625907|625908|626374|626375", "text": "TONSL-related condition" }, { - "baseId": "625907|625908|626374|626375|970306|970307", + "upstreamId": "625907|625908|626374|626375|970306|970307", "text": "Skeletal dysplaisia with extra-skeletal manifestations" }, { - "baseId": "625913|625914", + "upstreamId": "625913|625914", "text": "Leber congenital amaurosis 19" }, { - "baseId": "625980|794273", + "upstreamId": "625980|794273", "text": "Amelia, autosomal recessive" }, { - "baseId": "626053|626054", + "upstreamId": "626053|626054", "text": "Mitochondrial complex 4 deficiency, nuclear type 18" }, { - "baseId": "626239", + "upstreamId": "626239", "text": "CAPN3-Related Disorders" }, { - "baseId": "626283", + "upstreamId": "626283", "text": "Hereditary cerebral hemorrhage with amyloidosis" }, { - "baseId": "626351", + "upstreamId": "626351", "text": "Asthma" }, { - "baseId": "626352|626353", + "upstreamId": "626352|626353", "text": "Hyper-ige recurrent infection syndrome 4, autosomal recessive" }, { - "baseId": "626369", + "upstreamId": "626369", "text": "NSD2-related condition" }, { - "baseId": "626370", + "upstreamId": "626370", "text": "WHSC1 (NSD2)-related condition" }, { - "baseId": "626371|626387", + "upstreamId": "626371|626387", "text": "SLC25A46-associated optic atrophy spectrum disorder" }, { - "baseId": "626378|626379", + "upstreamId": "626378|626379", "text": "SARS2-associated condition" }, { - "baseId": "626384", + "upstreamId": "626384", "text": "ARX-associated condition" }, { - "baseId": "626396|626397|626398|626399|626400|626401|626402|626403|626404|626405|626406|626407|626408", + "upstreamId": "626396|626397|626398|626399|626400|626401|626402|626403|626404|626405|626406|626407|626408", "text": "NK-cell enteropathy" }, { - "baseId": "626447|626449|626450", + "upstreamId": "626447|626449|626450", "text": "Abnormality of the vertebral column" }, { - "baseId": "626449|626450", + "upstreamId": "626449|626450", "text": "Urethral stricture" }, { - "baseId": "630398", + "upstreamId": "630398", "text": "Recessive Marfanoid Syndrome with Severe Herniation" }, { - "baseId": "636134", + "upstreamId": "636134", "text": "GARS1-related neuropathies" }, { - "baseId": "642802", + "upstreamId": "642802", "text": "Supratentorial primitive neuroectodermal tumor" }, { - "baseId": "643390|655011|655012|655013|655014|655015|655016|655017", + "upstreamId": "643390|655011|655012|655013|655014|655015|655016|655017", "text": "Congenital scoliosis" }, { - "baseId": "646406", + "upstreamId": "646406", "text": "SCN4A-Related Disorders" }, { - "baseId": "653800|653801", + "upstreamId": "653800|653801", "text": "ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6" }, { - "baseId": "653802", + "upstreamId": "653802", "text": "Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features" }, { - "baseId": "653816", + "upstreamId": "653816", "text": "Deafness, autosomal dominant 37" }, { - "baseId": "653817", + "upstreamId": "653817", "text": "Ectodermal dysplasia 15, hypohidrotic/hair type" }, { - "baseId": "653823|798961|798962|798963|798965", + "upstreamId": "653823|798961|798962|798963|798965", "text": "Neurodevelopmental disorder with hypotonia and autistic features with or without hyperkinetic movements" }, { - "baseId": "653824", + "upstreamId": "653824", "text": "Dabrafenib response" }, { - "baseId": "653834|653835|653836|653837|653838|971013", + "upstreamId": "653834|653835|653836|653837|653838|971013", "text": "Immunodeficiency 64" }, { - "baseId": "653884", + "upstreamId": "653884", "text": "Scrotal hypoplasia" }, { - "baseId": "653968", + "upstreamId": "653968", "text": "Brain dopamine-serotonin vesicular transport disease" }, { - "baseId": "653994", + "upstreamId": "653994", "text": "Leri pleonosteosis" }, { - "baseId": "654000", + "upstreamId": "654000", "text": "Chromosome 17q11.2 deletion syndrome, 1.4 MB" }, { - "baseId": "654008|971560", + "upstreamId": "654008|971560", "text": "Chromosome 15q11.2 deletion syndrome" }, { - "baseId": "654170", + "upstreamId": "654170", "text": "Spondyloepiphyseal dysplasia" }, { - "baseId": "654352", + "upstreamId": "654352", "text": "Van Maldergem syndrome" }, { - "baseId": "654385", + "upstreamId": "654385", "text": "Homocystinuria without methylmalonic aciduria" }, { - "baseId": "654481", + "upstreamId": "654481", "text": "Kleefstra syndrome due to a point mutation" }, { - "baseId": "672010", + "upstreamId": "672010", "text": "Neurodevelopmental disorder with brain malformations and multiple congenital anomalies" }, { - "baseId": "672042", + "upstreamId": "672042", "text": "ACTG2-Related Disorder" }, { - "baseId": "672046|672047", + "upstreamId": "672046|672047", "text": "SLC6A1-Related Disorder" }, { - "baseId": "672060", + "upstreamId": "672060", "text": "LOX-Related Disorder" }, { - "baseId": "672069", + "upstreamId": "672069", "text": "PHIP-Related Disorder" }, { - "baseId": "672085", + "upstreamId": "672085", "text": "MYO7A-related disorder" }, { - "baseId": "672102", + "upstreamId": "672102", "text": "CLTC-Related Disorder" }, { - "baseId": "672104", + "upstreamId": "672104", "text": "TLK2-Related Disorder" }, { - "baseId": "672108|961344", + "upstreamId": "672108|961344", "text": "CACNA1A-Related Disorder" }, { - "baseId": "672109", + "upstreamId": "672109", "text": "Hemiplegia-hemiconvulsion-epilepsy syndrome" }, { - "baseId": "672113", + "upstreamId": "672113", "text": "PPP2R1A-related disorder" }, { - "baseId": "672116", + "upstreamId": "672116", "text": "Mercaptolactate-cysteine disulfiduria" }, { - "baseId": "672121", + "upstreamId": "672121", "text": "BRWD3-Related Disorder" }, { - "baseId": "672133|961404", + "upstreamId": "672133|961404", "text": "Rubinstein-Taybi syndrome due to 16p13.3 microdeletion" }, { - "baseId": "672148", + "upstreamId": "672148", "text": "Chromosome Xp21 deletion syndrome" }, { - "baseId": "672236|672237|672238", + "upstreamId": "672236|672237|672238", "text": "Diencephalic-mesencephalic junction dysplasia syndrome" }, { - "baseId": "672236|965274", + "upstreamId": "672236|965274", "text": "Diencephalic-mesencephalic junction dysplasia" }, { - "baseId": "672259|672260|672261|672262", + "upstreamId": "672259|672260|672261|672262", "text": "Nephrotic syndrome, type 21" }, { - "baseId": "672283|672284|672285|672286|672287|672288|672289|672290|672291|672292|672293", + "upstreamId": "672283|672284|672285|672286|672287|672288|672289|672290|672291|672292|672293", "text": "Renal agenesis and hypodysplasia" }, { - "baseId": "672318", + "upstreamId": "672318", "text": "Radioulnar synostosis-microcephaly-scoliosis syndrome" }, { - "baseId": "672320", + "upstreamId": "672320", "text": "Cerebellar medulloblastoma" }, { - "baseId": "672358", + "upstreamId": "672358", "text": "Carpal osteolysis" }, { - "baseId": "676913", + "upstreamId": "676913", "text": "Interstitial cardiac fibrosis" }, { - "baseId": "676955|676971|905977|971561", + "upstreamId": "676955|676971|905977|971561", "text": "Intellectual developmental disorder, autosomal recessive 72" }, { - "baseId": "676983|676984|676985|789780", + "upstreamId": "676983|676984|676985|789780", "text": "Developmental and epileptic encephalopathy, 79" }, { - "baseId": "676986", + "upstreamId": "676986", "text": "Mitochondrial DNA depletion syndrome 17" }, { - "baseId": "676989|676990|676991", + "upstreamId": "676989|676990|676991", "text": "Trichothiodystrophy 7, nonphotosensitive" }, { - "baseId": "677012", + "upstreamId": "677012", "text": "Hepatitis, fulminant viral, susceptibility to" }, { - "baseId": "677013|677014|677015|677016", + "upstreamId": "677013|677014|677015|677016", "text": "Oocyte maturation defect 7" }, { - "baseId": "677025|677026|677027|677028|796901|815998|964401", + "upstreamId": "677025|677026|677027|677028|796901|815998|964401", "text": "Microangiopathy and leukoencephalopathy, pontine, autosomal dominant" }, { - "baseId": "677052|677053|677054", + "upstreamId": "677052|677053|677054", "text": "LEUKODYSTROPHY, HYPOMYELINATING, 19, TRANSIENT INFANTILE" }, { - "baseId": "677070|983529|983531|983532|983533", + "upstreamId": "677070|983529|983531|983532|983533", "text": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES" }, { - "baseId": "677115|677117|677119", + "upstreamId": "677115|677117|677119", "text": "Megabladder, congenital" }, { - "baseId": "677184|677185|677186|677186|677187|861612|861613", + "upstreamId": "677184|677185|677186|677186|677187|861612|861613", "text": "Myopathy, congenital, progressive, with scoliosis" }, { - "baseId": "677198|677199|677200|677201|677202|677203|919087", + "upstreamId": "677198|677199|677200|677201|677202|677203|919087", "text": "Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies" }, { - "baseId": "677204|677205", + "upstreamId": "677204|677205", "text": "Neurodevelopmental disorder with cerebellar hypoplasia and spasticity" }, { - "baseId": "677225|677253", + "upstreamId": "677225|677253", "text": "Abnormality of connective tissue" }, { - "baseId": "677230", + "upstreamId": "677230", "text": "Absent radius" }, { - "baseId": "677232", + "upstreamId": "677232", "text": "Distal amyotrophy" }, { - "baseId": "677242", + "upstreamId": "677242", "text": "Male pseudohermaphroditism" }, { - "baseId": "677336", + "upstreamId": "677336", "text": "NUDT2-associated condition" }, { - "baseId": "677337", + "upstreamId": "677337", "text": "PRNP-associated condition" }, { - "baseId": "677400", + "upstreamId": "677400", "text": "Intellectual developmental disorder 60 with seizures" }, { - "baseId": "677401|677402", + "upstreamId": "677401|677402", "text": "Glycosylphosphatidylinositol biosynthesis defect 21" }, { - "baseId": "677478|677479|677480|792532|802101|802102", + "upstreamId": "677478|677479|677480|792532|802101|802102", "text": "Spondyloepimetaphyseal dysplasia, Isidor-Toutain type" }, { - "baseId": "677482", + "upstreamId": "677482", "text": "LMNA-associated condition" }, { - "baseId": "678055", + "upstreamId": "678055", "text": "Areflexia" }, { - "baseId": "678055", + "upstreamId": "678055", "text": "Stereotypical hand wringing" }, { - "baseId": "678055|679241|679242|679243|679245|679247", + "upstreamId": "678055|679241|679242|679243|679245|679247", "text": "Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia" }, { - "baseId": "678084", + "upstreamId": "678084", "text": "Congenitally corrected transposition of the great arteries" }, { - "baseId": "678949|861048", + "upstreamId": "678949|861048", "text": "Postaxial polydactyly" }, { - "baseId": "678964|678965|678966|678967", + "upstreamId": "678964|678965|678966|678967", "text": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82" }, { - "baseId": "678971", + "upstreamId": "678971", "text": "SHORT SLEEP, FAMILIAL NATURAL, 2" }, { - "baseId": "679174|679175|679176|679177|858510|858511", + "upstreamId": "679174|679175|679176|679177|858510|858511", "text": "Hypothyroidism, congenital, nongoitrous, 8" }, { - "baseId": "679178|679179|679180", + "upstreamId": "679178|679179|679180", "text": "Hypothyroidism, congenital, nongoitrous, 9" }, { - "baseId": "679183|679184|679185|679186|679187|861265|861267|861268|861269|861270|861271|861272|861273|861274|861275|971091|971092", + "upstreamId": "679183|679184|679185|679186|679187|861265|861267|861268|861269|861270|861271|861272|861273|861274|861275|971091|971092", "text": "Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities" }, { - "baseId": "679189|679190|679191", + "upstreamId": "679189|679190|679191", "text": "Peritoneal Gliomatosis" }, { - "baseId": "679282|679283|679284|679285|679286|679287|798479|964807|972529", + "upstreamId": "679282|679283|679284|679285|679286|679287|798479|964807|972529", "text": "Snijders blok-fisher syndrome" }, { - "baseId": "679288|679289|679290", + "upstreamId": "679288|679289|679290", "text": "Pontocerebellar hypoplasia, type 13" }, { - "baseId": "679293", + "upstreamId": "679293", "text": "Chromosome 8p11 myeloproliferative syndrome" }, { - "baseId": "679317|679318", + "upstreamId": "679317|679318", "text": "Retinitis pigmentosa 86" }, { - "baseId": "679319|679320", + "upstreamId": "679319|679320", "text": "Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies" }, { - "baseId": "679356|679357|679358|679359", + "upstreamId": "679356|679357|679358|679359", "text": "Mitochondrial complex 1 deficiency, nuclear type 34" }, { - "baseId": "679483|794110", + "upstreamId": "679483|794110", "text": "Frequent falls" }, { - "baseId": "679509|679510|679511|679512|679513", + "upstreamId": "679509|679510|679511|679512|679513", "text": "Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation" }, { - "baseId": "679565|679566|679567|679568|679569", + "upstreamId": "679565|679566|679567|679568|679569", "text": "Early Onset Neurological Disease Trait" }, { - "baseId": "679571", + "upstreamId": "679571", "text": "Spastic Paraplegia 2, mild, late onset" }, { - "baseId": "679574|679575|679576|679577", + "upstreamId": "679574|679575|679576|679577", "text": "Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures" }, { - "baseId": "679578", + "upstreamId": "679578", "text": "Imatinib response" }, { - "baseId": "679582", + "upstreamId": "679582", "text": "Neuronal intranuclear inclusion disease" }, { - "baseId": "679582", + "upstreamId": "679582", "text": "Tremor, hereditary essential, 6" }, { - "baseId": "679672|679678", + "upstreamId": "679672|679678", "text": "Reduced renal corticomedullary differentiation" }, { - "baseId": "679672|679673|679674|679675", + "upstreamId": "679672|679673|679674|679675", "text": "Neuromuscular disease and ocular or auditory anomalies with or without seizures" }, { - "baseId": "679698|679699|679700|679701|679702|679703|679704|679705", + "upstreamId": "679698|679699|679700|679701|679702|679703|679704|679705", "text": "Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus" }, { - "baseId": "679714|679715|679716|679717|679718|679719|858504|858505|858506|858507", + "upstreamId": "679714|679715|679716|679717|679718|679719|858504|858505|858506|858507", "text": "Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies" }, { - "baseId": "679730|682220", + "upstreamId": "679730|682220", "text": "Leukemia, acute lymphoblastic 2" }, { - "baseId": "679745", + "upstreamId": "679745", "text": "PURA Syndrome" }, { - "baseId": "679764", + "upstreamId": "679764", "text": "congenital heart defect" }, { - "baseId": "679772|974491", + "upstreamId": "679772|974491", "text": "Autosomal dominant KAT6B-related disorders" }, { - "baseId": "679786|973031", + "upstreamId": "679786|973031", "text": "COL2A1-related skeletal dysplasia" }, { - "baseId": "679812", + "upstreamId": "679812", "text": "Teratoid tumor, atypical" }, { - "baseId": "679829", + "upstreamId": "679829", "text": "Mucocutaneous ulceration" }, { - "baseId": "679836", + "upstreamId": "679836", "text": "Oppositional defiant disorder" }, { - "baseId": "679836", + "upstreamId": "679836", "text": "reactive attachment disorder" }, { - "baseId": "679848|679849|679850", + "upstreamId": "679848|679849|679850", "text": "Rothmund-Thomson syndrome type 1" }, { - "baseId": "679851", + "upstreamId": "679851", "text": "syndrome with premature-aging" }, { - "baseId": "679894", + "upstreamId": "679894", "text": "Doxorubicin response" }, { - "baseId": "679958|679959", + "upstreamId": "679958|679959", "text": "SeSAME-like syndrome" }, { - "baseId": "679961", + "upstreamId": "679961", "text": "Oculopharyngeal myopathy with leukoencephalopathy 1" }, { - "baseId": "680033|680034|680035|680036", + "upstreamId": "680033|680034|680035|680036", "text": "Siddiqi syndrome" }, { - "baseId": "680037", + "upstreamId": "680037", "text": "Oculopharyngodistal myopathy" }, { - "baseId": "680074|680075|680076|680077", + "upstreamId": "680074|680075|680076|680077", "text": "Osteogenesis imperfecta, type 20" }, { - "baseId": "680078|680079|680080", + "upstreamId": "680078|680079|680080", "text": "SPERMATOGENIC FAILURE 39" }, { - "baseId": "681333", + "upstreamId": "681333", "text": "Decreased activity of mitochondrial complex IV" }, { - "baseId": "681600|794276", + "upstreamId": "681600|794276", "text": "Abnormal basal ganglia MRI signal intensity" }, { - "baseId": "681600|794276", + "upstreamId": "681600|794276", "text": "Gonadal dysgenesis" }, { - "baseId": "681802|822326|822327|822328|822329|822330", + "upstreamId": "681802|822326|822327|822328|822329|822330", "text": "Myopia 2, autosomal dominant" }, { - "baseId": "681863|681864", + "upstreamId": "681863|681864", "text": "Immunodeficiency 65, susceptibility to viral infections" }, { - "baseId": "681868|681869", + "upstreamId": "681868|681869", "text": "Diencephalic-mesencephalic junction dysplasia syndrome 2" }, { - "baseId": "681873", + "upstreamId": "681873", "text": "Epidermodysplasia verruciformis, susceptibility to, 5" }, { - "baseId": "682095|961553", + "upstreamId": "682095|961553", "text": "TAF1-related syndromic intellectual disability" }, { - "baseId": "682119", + "upstreamId": "682119", "text": "Cholestasis, progressive familial intrahepatic, (PFIC4-like)" }, { - "baseId": "682119|682409|682410|682411|682412|682413|682414|682415|682416|682417|792798", + "upstreamId": "682119|682409|682410|682411|682412|682413|682414|682415|682416|682417|792798", "text": "Cholestasis" }, { - "baseId": "682122|682123", + "upstreamId": "682122|682123", "text": "Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15" }, { - "baseId": "682171", + "upstreamId": "682171", "text": "Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies" }, { - "baseId": "682239|682240", + "upstreamId": "682239|682240", "text": "Myopathy, congenital, with structured cores and z-line abnormalities" }, { - "baseId": "682241|682242|970681", + "upstreamId": "682241|682242|970681", "text": "Myopathy, distal, 6, adult-onset, autosomal dominant" }, { - "baseId": "682243|682244|682245|682246|682247", + "upstreamId": "682243|682244|682245|682246|682247", "text": "Intellectual developmental disorder with impaired language and dysmorphic facies" }, { - "baseId": "682249", + "upstreamId": "682249", "text": "Hypercalciuria" }, { - "baseId": "682299", + "upstreamId": "682299", "text": "Deafness, autosomal dominant 27" }, { - "baseId": "682300", + "upstreamId": "682300", "text": "Esophageal and colonic dysmotility" }, { - "baseId": "682317", + "upstreamId": "682317", "text": "Skin adenoma" }, { - "baseId": "682348|682350|682351|682361", + "upstreamId": "682348|682350|682351|682361", "text": "mitochondrial hepatopathy" }, { - "baseId": "682356", + "upstreamId": "682356", "text": "Alpers-like hepatocerebral syndrome" }, { - "baseId": "682369", + "upstreamId": "682369", "text": "HEMOGLOBIN HANA" }, { - "baseId": "682372|682373", + "upstreamId": "682372|682373", "text": "Diarrhea 11, malabsorptive, congenital" }, { - "baseId": "682396", + "upstreamId": "682396", "text": "Abnormal chromosome morphology" }, { - "baseId": "682396|800941|800943|800945|800946|800947|800952", + "upstreamId": "682396|800941|800943|800945|800946|800947|800952", "text": "Recurrent spontaneous abortion" }, { - "baseId": "682397|682398|682399|682400|682401|682402|682403|682404|682405|682406|682407|682408", + "upstreamId": "682397|682398|682399|682400|682401|682402|682403|682404|682405|682406|682407|682408", "text": "CDC42BPB-related neurodevelopmental syndrome" }, { - "baseId": "682426", + "upstreamId": "682426", "text": "Motor and sensory neuropathy" }, { - "baseId": "682488", + "upstreamId": "682488", "text": "Delayed myelination" }, { - "baseId": "682490", + "upstreamId": "682490", "text": "Epilepsy, familial adult myoclonic, 4" }, { - "baseId": "682509|800951", + "upstreamId": "682509|800951", "text": "Oocyte maturation defect" }, { - "baseId": "682585|682586|682587|682656", + "upstreamId": "682585|682586|682587|682656", "text": "Spermatogenic failure 40" }, { - "baseId": "682657", + "upstreamId": "682657", "text": "Spermatogenic failure 41" }, { - "baseId": "682667|682668", + "upstreamId": "682667|682668", "text": "Hydrocephalus, congenital communicating, 1" }, { - "baseId": "682724|682725|682726|682727", + "upstreamId": "682724|682725|682726|682727", "text": "Cortical dysplasia, complex, with other brain malformations 10" }, { - "baseId": "682749", + "upstreamId": "682749", "text": "Hydronephrosis" }, { - "baseId": "682782", + "upstreamId": "682782", "text": "Lessel-kubisch syndrome" }, { - "baseId": "682783", + "upstreamId": "682783", "text": "Pancreatic cancer, susceptibility to, 5" }, { - "baseId": "682788|682789|682790|682791|682792|964893|973105", + "upstreamId": "682788|682789|682790|682791|682792|964893|973105", "text": "Intellectual developmental disorder with speech delay, autism, and dysmorphic facies" }, { - "baseId": "682793|921216", + "upstreamId": "682793|921216", "text": "Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5" }, { - "baseId": "682852|818744", + "upstreamId": "682852|818744", "text": "Renal tubular acidosis" }, { - "baseId": "682852|818744", + "upstreamId": "682852|818744", "text": "Rickets" }, { - "baseId": "682852|818744", + "upstreamId": "682852|818744", "text": "Metabolic acidosis" }, { - "baseId": "682855", + "upstreamId": "682855", "text": "Intrahepatic cholestasis with episodic jaundice" }, { - "baseId": "682864", + "upstreamId": "682864", "text": "Aplasia/hypoplasia involving bones of the lower limbs" }, { - "baseId": "682864", + "upstreamId": "682864", "text": "Absence of the sacrum" }, { - "baseId": "682950|969162", + "upstreamId": "682950|969162", "text": "Mitochondrial complex 5 (atp synthase) deficiency, nuclear type 6" }, { - "baseId": "683186|789712", + "upstreamId": "683186|789712", "text": "ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES, SOMATIC MOSAIC" }, { - "baseId": "683186", + "upstreamId": "683186", "text": "neuro-ectodermal phenotype" }, { - "baseId": "683225|683226", + "upstreamId": "683225|683226", "text": "Intellectual developmental disorder with short stature and behavioral abnormalities" }, { - "baseId": "683832", + "upstreamId": "683832", "text": "Hereditary hemochromatosis type 5" }, { - "baseId": "711182|816412", + "upstreamId": "711182|816412", "text": "Zellweger Spectrum Disorder" }, { - "baseId": "714726", + "upstreamId": "714726", "text": "Hyperaldosteronism" }, { - "baseId": "716121|789347", + "upstreamId": "716121|789347", "text": "Recurrent skin infections" }, { - "baseId": "724728|966721", + "upstreamId": "724728|966721", "text": "Rudimentary fibula" }, { - "baseId": "734506|828921", + "upstreamId": "734506|828921", "text": "Glutaric acidemia type 2C" }, { - "baseId": "761008", + "upstreamId": "761008", "text": "Retinitis pigmentosa 87 with choroidal involvement" }, { - "baseId": "788384|788385|788386|788387", + "upstreamId": "788384|788385|788386|788387", "text": "Ciliary dyskinesia, primary, 43" }, { - "baseId": "788765", + "upstreamId": "788765", "text": "COL7A1-related disorders" }, { - "baseId": "788809", + "upstreamId": "788809", "text": "MAP3K7-related disorder" }, { - "baseId": "788814", + "upstreamId": "788814", "text": "TWIST1-related disorder" }, { - "baseId": "788817", + "upstreamId": "788817", "text": "GLI3-related postaxial polydactyly" }, { - "baseId": "788850|789376", + "upstreamId": "788850|789376", "text": "Autosomal dominant KCNQ1-related disease" }, { - "baseId": "788866", + "upstreamId": "788866", "text": "COL2A1-related phenotype" }, { - "baseId": "788879", + "upstreamId": "788879", "text": "Autosomal dominant MYH7-related disorder" }, { - "baseId": "788924|880183|880185|880192", + "upstreamId": "788924|880183|880185|880192", "text": "COMP-related disorders" }, { - "baseId": "788977", + "upstreamId": "788977", "text": "Primary pulmonary hypoplasia" }, { - "baseId": "789156", + "upstreamId": "789156", "text": "Short stature and microcephaly with genital anomalies" }, { - "baseId": "789161|789162|789163|789164|789165|970494", + "upstreamId": "789161|789162|789163|789164|789165|970494", "text": "Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures" }, { - "baseId": "789246|969242", + "upstreamId": "789246|969242", "text": "Dysfibrinogenemia, congenital" }, { - "baseId": "789258", + "upstreamId": "789258", "text": "Multifocal seizures" }, { - "baseId": "789314", + "upstreamId": "789314", "text": "Premature ovarian failure 16" }, { - "baseId": "789341|789342|789343", + "upstreamId": "789341|789342|789343", "text": "White matter deficit" }, { - "baseId": "789384", + "upstreamId": "789384", "text": "CNTNAP1-related disease" }, { - "baseId": "789388", + "upstreamId": "789388", "text": "INSR-related disorder" }, { - "baseId": "789713|789714", + "upstreamId": "789713|789714", "text": "Heyn-Sproul-Jackson syndrome" }, { - "baseId": "789781|789782|794170|969301", + "upstreamId": "789781|789782|794170|969301", "text": "Webb-Dattani syndrome" }, { - "baseId": "791856", + "upstreamId": "791856", "text": "Hereditary amyloidosis" }, { - "baseId": "792538|792539|792540|792541|792542|792543|792544|792545|792546|792547|792548|792549|792550|792551|792552|792553|792554|792559|792560|792561|792562", + "upstreamId": "792538|792539|792540|792541|792542|792543|792544|792545|792546|792547|792548|792549|792550|792551|792552|792553|792554|792559|792560|792561|792562", "text": "Cystine urolithiasis" }, { - "baseId": "792563|792564|792565", + "upstreamId": "792563|792564|792565", "text": "Zimmermann-laband syndrome 3" }, { - "baseId": "792590", + "upstreamId": "792590", "text": "ATP6AP1-related disorders" }, { - "baseId": "792596|792597", + "upstreamId": "792596|792597", "text": "EIF2AK2-related condition" }, { - "baseId": "792596|792597|801518|801519|806288|806406|861117|861118", + "upstreamId": "792596|792597|801518|801519|806288|806406|861117|861118", "text": "Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome" }, { - "baseId": "792599", + "upstreamId": "792599", "text": "DROSHA-related neurodevelopmental disorder" }, { - "baseId": "792600", + "upstreamId": "792600", "text": "ADGRV1-related myoclonic epilepsy" }, { - "baseId": "792603", + "upstreamId": "792603", "text": "KMT2C-related condition" }, { - "baseId": "792604", + "upstreamId": "792604", "text": "EIF2AK1-related condition" }, { - "baseId": "792604", + "upstreamId": "792604", "text": "Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome" }, { - "baseId": "792610", + "upstreamId": "792610", "text": "CDH2-related condition" }, { - "baseId": "792610|794093|794094|794095|794096|794097|794098|794099|794100", + "upstreamId": "792610|794093|794094|794095|794096|794097|794098|794099|794100", "text": "Axon pathfinding, cardiac, ocular and genital defects" }, { - "baseId": "792610|794093|794094|794098|794099|918173|918174", + "upstreamId": "792610|794093|794094|794098|794099|918173|918174", "text": "Agenesis of corpus callosum, cardiac, ocular, and genital syndrome" }, { - "baseId": "792610|794093|794094|794095|794099|794100", + "upstreamId": "792610|794093|794094|794095|794099|794100", "text": "Syndromic neurodevelopmental disorder" }, { - "baseId": "792653", + "upstreamId": "792653", "text": "Aneurysm, intracranial berry, 12" }, { - "baseId": "792662|792663|792664|792665|972750", + "upstreamId": "792662|792663|792664|792665|972750", "text": "Deafness, autosomal dominant 78" }, { - "baseId": "792692", + "upstreamId": "792692", "text": "Death in childhood" }, { - "baseId": "792704|792705|792706|792707|792708|792709|792710", + "upstreamId": "792704|792705|792706|792707|792708|792709|792710", "text": "Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity" }, { - "baseId": "792733", + "upstreamId": "792733", "text": "visual disturbance" }, { - "baseId": "792811", + "upstreamId": "792811", "text": "Abnormality of the liver" }, { - "baseId": "794110", + "upstreamId": "794110", "text": "Prolonged neonatal jaundice" }, { - "baseId": "794114|794115|794116|794117|794118", + "upstreamId": "794114|794115|794116|794117|794118", "text": "Autosomal recessive keratitis-ichthyosis-deafness syndrome" }, { - "baseId": "794151|794152|794153|858300|963341", + "upstreamId": "794151|794152|794153|858300|963341", "text": "SPERMATOGENIC FAILURE 48" }, { - "baseId": "794167|794168|794169", + "upstreamId": "794167|794168|794169", "text": "Acontractile detrusor" }, { - "baseId": "794201", + "upstreamId": "794201", "text": "Chromosome 15q26-qter deletion syndrome" }, { - "baseId": "794204", + "upstreamId": "794204", "text": "Immunodeficiency with T and B cell lymphopenia" }, { - "baseId": "794265|794266|794267|794268", + "upstreamId": "794265|794266|794267|794268", "text": "Progeroid mandibuloacral dysplasia" }, { - "baseId": "794265|794266|794267|794268|815876", + "upstreamId": "794265|794266|794267|794268|815876", "text": "MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME" }, { - "baseId": "794292|794293|794294|794295|794296|794297", + "upstreamId": "794292|794293|794294|794295|794296|794297", "text": "Spermatogenic failure 42" }, { - "baseId": "794316", + "upstreamId": "794316", "text": "Developmental and epileptic encephalopathy, 83" }, { - "baseId": "794317|794318|794319|794320|794321|970981|983847", + "upstreamId": "794317|794318|794319|794320|794321|970981|983847", "text": "Intellectual developmental disorder with hypotonia and behavioral abnormalities" }, { - "baseId": "794322|794323|794324|794325|794326|794327|794328", + "upstreamId": "794322|794323|794324|794325|794326|794327|794328", "text": "Spermatogenic failure 43" }, { - "baseId": "794329", + "upstreamId": "794329", "text": "Normal pressure hydrocephalus" }, { - "baseId": "794347", + "upstreamId": "794347", "text": "Refractory epilepsy with Lennox Gastaut syndrome" }, { - "baseId": "794350", + "upstreamId": "794350", "text": "Non-lesional parietal lobe epilepsy" }, { - "baseId": "794353", + "upstreamId": "794353", "text": "Periventricular nodular heterotopia and epilepsy" }, { - "baseId": "794668|971332|971333|971334|971335|971336", + "upstreamId": "794668|971332|971333|971334|971335|971336", "text": "Spectraplakinopathy type I" }, { - "baseId": "796238|804900|906327|906328|906329|906330|906331", + "upstreamId": "796238|804900|906327|906328|906329|906330|906331", "text": "Sandestig-stefanova syndrome" }, { - "baseId": "798695", + "upstreamId": "798695", "text": "Glomerulocystic kidney disease with hyperuricemia and isosthenuria" }, { - "baseId": "798949", + "upstreamId": "798949", "text": "Catifa syndrome" }, { - "baseId": "798950|798951", + "upstreamId": "798950|798951", "text": "Endometriosis" }, { - "baseId": "798954", + "upstreamId": "798954", "text": "Acute myeloid leukemia with multilineage dysplasia" }, { - "baseId": "798959", + "upstreamId": "798959", "text": "13q12.3 microdeletion" }, { - "baseId": "799078|799079", + "upstreamId": "799078|799079", "text": "Joubert syndrome 36" }, { - "baseId": "799091|799092", + "upstreamId": "799091|799092", "text": "Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum" }, { - "baseId": "799559", + "upstreamId": "799559", "text": "Mitochondrial complex III deficiency, nuclear type 3" }, { - "baseId": "800028", + "upstreamId": "800028", "text": "Acetyl-CoA: carboxylase deficiency" }, { - "baseId": "800185", + "upstreamId": "800185", "text": "Major affective disorder 7" }, { - "baseId": "800331", + "upstreamId": "800331", "text": "Discoid lupus rash" }, { - "baseId": "800332|858623|858624|858625|858626|858627", + "upstreamId": "800332|858623|858624|858625|858626|858627", "text": "Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities" }, { - "baseId": "800342|800343", + "upstreamId": "800342|800343", "text": "SPERMATOGENIC FAILURE 51" }, { - "baseId": "800545|800546|800547|800548|800549|800550|800551|800552", + "upstreamId": "800545|800546|800547|800548|800549|800550|800551|800552", "text": "cone dystrophy with supernormal rod electroretinogram" }, { - "baseId": "800595|800596|965597|965598|965599|965600|965601|965602|965603", + "upstreamId": "800595|800596|965597|965598|965599|965600|965601|965602|965603", "text": "Retinitis pigmentosa 90" }, { - "baseId": "800670", + "upstreamId": "800670", "text": "15q22.2 deletion syndrome" }, { - "baseId": "800692", + "upstreamId": "800692", "text": "Refsum syndrome" }, { - "baseId": "800757", + "upstreamId": "800757", "text": "Lymphatic malformation 8" }, { - "baseId": "800758|800759", + "upstreamId": "800758|800759", "text": "Deafness, autosomal dominant 7" }, { - "baseId": "800761", + "upstreamId": "800761", "text": "Sirenomelia" }, { - "baseId": "800787", + "upstreamId": "800787", "text": "Microcephaly-complex motor and sensory axonal neuropathy syndrome" }, { - "baseId": "800788", + "upstreamId": "800788", "text": "Polyarticular arthritis" }, { - "baseId": "800819|800820|800821", + "upstreamId": "800819|800820|800821", "text": "Spastic paraplegia 82, autosomal recessive" }, { - "baseId": "800822|800823", + "upstreamId": "800822|800823", "text": "Spastic paraplegia 81, autosomal recessive" }, { - "baseId": "800862|800863|800864|800865|800866", + "upstreamId": "800862|800863|800864|800865|800866", "text": "Congenital heart defects, multiple types, 7" }, { - "baseId": "800899|962163", + "upstreamId": "800899|962163", "text": "Deafness, autosomal dominant 75" }, { - "baseId": "800927|800929", + "upstreamId": "800927|800929", "text": "Long QT syndrome 16" }, { - "baseId": "800928", + "upstreamId": "800928", "text": "VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 6" }, { - "baseId": "800930|800931|800932|800933|800934", + "upstreamId": "800930|800931|800932|800933|800934", "text": "Coffin-Siris syndrome 11" }, { - "baseId": "800939", + "upstreamId": "800939", "text": "Dizygotic twins" }, { - "baseId": "800950", + "upstreamId": "800950", "text": "Preimplantation embryonic lethality" }, { - "baseId": "800982", + "upstreamId": "800982", "text": "Reticulocytopenia" }, { - "baseId": "800989", + "upstreamId": "800989", "text": "Hypsarrhythmia" }, { - "baseId": "800989", + "upstreamId": "800989", "text": "Peripheral edema" }, { - "baseId": "801106", + "upstreamId": "801106", "text": "Minimal change glomerulonephritis" }, { - "baseId": "801116", + "upstreamId": "801116", "text": "Abnormal dense granule content" }, { - "baseId": "801116", + "upstreamId": "801116", "text": "Abnormal dense granules" }, { - "baseId": "801122", + "upstreamId": "801122", "text": "Abnormality of the heme biosynthetic pathway" }, { - "baseId": "801164", + "upstreamId": "801164", "text": "Toe walking" }, { - "baseId": "801186", + "upstreamId": "801186", "text": "Progressive psychomotor deterioration" }, { - "baseId": "801195|801506", + "upstreamId": "801195|801506", "text": "Mesangiocapillary glomerulonephritis" }, { - "baseId": "801221", + "upstreamId": "801221", "text": "Central core regions in muscle fibers" }, { - "baseId": "801221", + "upstreamId": "801221", "text": "Abnormality of the respiratory system" }, { - "baseId": "801224", + "upstreamId": "801224", "text": "Abnormal synaptic transmission" }, { - "baseId": "801228", + "upstreamId": "801228", "text": "Basal ganglia calcification" }, { - "baseId": "801230", + "upstreamId": "801230", "text": "SPTA1-related disorders" }, { - "baseId": "801247", + "upstreamId": "801247", "text": "Pure red cell aplasia" }, { - "baseId": "801254", + "upstreamId": "801254", "text": "Paris-Trousseau thrombocytopenia" }, { - "baseId": "801392|801393|801442", + "upstreamId": "801392|801393|801442", "text": "Choroidal dystrophy central areolar" }, { - "baseId": "801504|806289", + "upstreamId": "801504|806289", "text": "global hypotonia" }, { - "baseId": "801521", + "upstreamId": "801521", "text": "Deletion syndrome" }, { - "baseId": "801523|801524|801525|801526", + "upstreamId": "801523|801524|801525|801526", "text": "Ciliary dyskinesia, primary, 44" }, { - "baseId": "801542|801543", + "upstreamId": "801542|801543", "text": "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36" }, { - "baseId": "802069", + "upstreamId": "802069", "text": "Dominant progressive sensorineural hearing loss" }, { - "baseId": "802075", + "upstreamId": "802075", "text": "Dominant congenital non-syndromic sensorineural hearing loss" }, { - "baseId": "802081", + "upstreamId": "802081", "text": "Dominant congenital profound hearing loss" }, { - "baseId": "802094|966697|966704", + "upstreamId": "802094|966697|966704", "text": "Renal agenesis" }, { - "baseId": "804744", + "upstreamId": "804744", "text": "Demyelinating peripheral neuropathy" }, { - "baseId": "804835|804836|804837|804838|804839|804840|804841|804842|804843|970491", + "upstreamId": "804835|804836|804837|804838|804839|804840|804841|804842|804843|970491", "text": "Beck-Fahrner syndrome" }, { - "baseId": "804835|804836|804837|804838|804839|804840|804841|804842|804843|967106", + "upstreamId": "804835|804836|804837|804838|804839|804840|804841|804842|804843|967106", "text": "TET3 deficiency" }, { - "baseId": "804896|804897|804898|804899", + "upstreamId": "804896|804897|804898|804899", "text": "Ciliary dyskinesia, primary, 45" }, { - "baseId": "804905|804906", + "upstreamId": "804905|804906", "text": "Triokinase and FMN cyclase deficiency syndrome" }, { - "baseId": "804905|804906", + "upstreamId": "804905|804906", "text": "Inborn errors of metabolism" }, { - "baseId": "804905|804906", + "upstreamId": "804905|804906", "text": "TKFC deficiency" }, { - "baseId": "805100", + "upstreamId": "805100", "text": "Bilateral cleft lip" }, { - "baseId": "805101|805102", + "upstreamId": "805101|805102", "text": "Tricuspid atresia (disease)" }, { - "baseId": "805178", + "upstreamId": "805178", "text": "ASH1L-Related Disorder" }, { - "baseId": "805403", + "upstreamId": "805403", "text": "DSPP-Related Disorder" }, { - "baseId": "806433", + "upstreamId": "806433", "text": "Embryonic calcium dysregulation" }, { - "baseId": "806433", + "upstreamId": "806433", "text": "Metaphyseal fractures" }, { - "baseId": "806433", + "upstreamId": "806433", "text": "Slender long bone" }, { - "baseId": "806442", + "upstreamId": "806442", "text": "Chromosome 3pter-p25 deletion syndrome" }, { - "baseId": "815776", + "upstreamId": "815776", "text": "T-CELL LYMPHOPENIA, INFANTILE, WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT" }, { - "baseId": "815778|815779", + "upstreamId": "815778|815779", "text": "T-lymphocyte deficiency" }, { - "baseId": "815785", + "upstreamId": "815785", "text": "Respiratory papillomatosis, juvenile recurrent, congenital" }, { - "baseId": "815790|815791|815792|815793|815794|815795|815796|815797|815798|815799|815800|815801|815802|815803|815804|815805|815806|815807|815808|815809", + "upstreamId": "815790|815791|815792|815793|815794|815795|815796|815797|815798|815799|815800|815801|815802|815803|815804|815805|815806|815807|815808|815809", "text": "Hereditary angioedema with normal C1Inh" }, { - "baseId": "815857|815858|815859|815860|815861", + "upstreamId": "815857|815858|815859|815860|815861", "text": "Intellectual developmental disorder, x-linked, syndromic, Hackmann-Di Donato type" }, { - "baseId": "815973", + "upstreamId": "815973", "text": "Arnold-Chiari malformation" }, { - "baseId": "816293", + "upstreamId": "816293", "text": "Mitochondrial DNA depletion syndrome 18" }, { - "baseId": "816295|816296|816297|962168|964855|965225|969608|977262", + "upstreamId": "816295|816296|816297|962168|964855|965225|969608|977262", "text": "Genitourinary and/or brain malformation syndrome" }, { - "baseId": "816391", + "upstreamId": "816391", "text": "Myopathy, congenital proximal, with minicore lesions" }, { - "baseId": "816392", + "upstreamId": "816392", "text": "Myopathy, congenital, with respiratory insufficiency and bone fractures" }, { - "baseId": "816393|816394|816395", + "upstreamId": "816393|816394|816395", "text": "Intellectual developmental disorder with poor growth and with or without seizures or ataxia" }, { - "baseId": "816431", + "upstreamId": "816431", "text": "Tyrosinemia" }, { - "baseId": "816534", + "upstreamId": "816534", "text": "TLK2-related neurodevelopmental disorder" }, { - "baseId": "818123|818124|818125|818126", + "upstreamId": "818123|818124|818125|818126", "text": "Myopia 27" }, { - "baseId": "818127|818128|818129|818130|818131|818132|818133|818134", + "upstreamId": "818127|818128|818129|818130|818131|818132|818133|818134", "text": "Basal ganglia calcification, idiopathic, 8, autosomal recessive" }, { - "baseId": "818575|969300", + "upstreamId": "818575|969300", "text": "5q35 microduplication syndrome" }, { - "baseId": "818586|818587|818588|818589|818590|818591", + "upstreamId": "818586|818587|818588|818589|818590|818591", "text": "Neuromyopathy" }, { - "baseId": "818634", + "upstreamId": "818634", "text": "Hypotrichosis 5" }, { - "baseId": "818712", + "upstreamId": "818712", "text": "Chromosome 4q21 deletion syndrome" }, { - "baseId": "818727|818728", + "upstreamId": "818727|818728", "text": "Neurodevelopmental disorder with microcephaly and dysmorphic facies" }, { - "baseId": "818729|818730|818731|818732", + "upstreamId": "818729|818730|818731|818732", "text": "Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies" }, { - "baseId": "818730", + "upstreamId": "818730", "text": "SPOP-related condition" }, { - "baseId": "818742", + "upstreamId": "818742", "text": "Profound hearing impairment" }, { - "baseId": "818765|818766", + "upstreamId": "818765|818766", "text": "Isolated hand syndactyly" }, { - "baseId": "822314", + "upstreamId": "822314", "text": "Mitochondrial complex 4 deficiency, nuclear type 16" }, { - "baseId": "822320|822321|822322", + "upstreamId": "822320|822321|822322", "text": "Hypogonadotropic hypogonadism 25 with anosmia" }, { - "baseId": "822340|822341|822342|822343|919645|919646|920360|962177|964874", + "upstreamId": "822340|822341|822342|822343|919645|919646|920360|962177|964874", "text": "Epilepsy, early-onset, with or without developmental delay" }, { - "baseId": "822665|858242|858244", + "upstreamId": "822665|858242|858244", "text": "Al-Gazali syndrome" }, { - "baseId": "836396", + "upstreamId": "836396", "text": "PTCH1-related disorders" }, { - "baseId": "850071|959307|969739", + "upstreamId": "850071|959307|969739", "text": "VEXAS" }, { - "baseId": "850071|959307|969739", + "upstreamId": "850071|959307|969739", "text": "VEXAS syndrome" }, { - "baseId": "853050", + "upstreamId": "853050", "text": "N-FORMYLPEPTIDE RECEPTOR POLYMORPHISM" }, { - "baseId": "853053|853054|853055|853056", + "upstreamId": "853053|853054|853055|853056", "text": "Vertebral, cardiac, renal, and limb defects syndrome 3" }, { - "baseId": "855097|855098|855099|855100|855101|962148|964820", + "upstreamId": "855097|855098|855099|855100|855101|962148|964820", "text": "Diets-Jongmans syndrome" }, { - "baseId": "857371", + "upstreamId": "857371", "text": "Immunodeficiency 66" }, { - "baseId": "857373|857374|857375", + "upstreamId": "857373|857374|857375", "text": "Antisynthetase syndrome" }, { - "baseId": "857396", + "upstreamId": "857396", "text": "Increased serum lactate" }, { - "baseId": "857396", + "upstreamId": "857396", "text": "Acidosis" }, { - "baseId": "857398|857399", + "upstreamId": "857398|857399", "text": "Hypervalinemia and hyperleucine-isoleucinemia" }, { - "baseId": "857400|857401|857402", + "upstreamId": "857400|857401|857402", "text": "Muscular dystrophy, limb-girdle, autosomal recessive 26" }, { - "baseId": "857611|857628", + "upstreamId": "857611|857628", "text": "Decreased activity of mitochondrial complex III" }, { - "baseId": "857626", + "upstreamId": "857626", "text": "neonatal lactic acidosis" }, { - "baseId": "857631", + "upstreamId": "857631", "text": "Eosinophilia" }, { - "baseId": "857633", + "upstreamId": "857633", "text": "Bone marrow failure syndrome 6" }, { - "baseId": "857634|857635|857636|857637|857638", + "upstreamId": "857634|857635|857636|857637|857638", "text": "Testicular regression syndrome" }, { - "baseId": "857996|857997", + "upstreamId": "857996|857997", "text": "Anauxetic dysplasia 3" }, { - "baseId": "858218|858219", + "upstreamId": "858218|858219", "text": "Combined oxidative phosphorylation deficiency 43" }, { - "baseId": "858248", + "upstreamId": "858248", "text": "Right ventricular dilatation" }, { - "baseId": "858248", + "upstreamId": "858248", "text": "Left ventricular failure" }, { - "baseId": "858288", + "upstreamId": "858288", "text": "Cole-Carpenter syndrome" }, { - "baseId": "858291", + "upstreamId": "858291", "text": "Bruck syndrome" }, { - "baseId": "858297|905812", + "upstreamId": "858297|905812", "text": "Abnormal spermatogenesis" }, { - "baseId": "858301|858302|858303", + "upstreamId": "858301|858302|858303", "text": "Chronic obstructive pulmonary disease, biomass related" }, { - "baseId": "858390|858391|858392|858393", + "upstreamId": "858390|858391|858392|858393", "text": "Autoinflammation with episodic fever and lymphadenopathy" }, { - "baseId": "858513", + "upstreamId": "858513", "text": "Bilateral multifocal epileptiform discharges" }, { - "baseId": "858548", + "upstreamId": "858548", "text": "PPP1R21-related neurodevelopmental disorder" }, { - "baseId": "858553", + "upstreamId": "858553", "text": "PTPN23-related neurodevelopmental disorder" }, { - "baseId": "858555", + "upstreamId": "858555", "text": "GRIK2-related neurodevelopmental disorder" }, { - "baseId": "858581", + "upstreamId": "858581", "text": "PIGG-related neurodevelopmental disorder" }, { - "baseId": "858585", + "upstreamId": "858585", "text": "HUWE1-related neurodevelopmental disorder" }, { - "baseId": "858617|858618|858619|858620|858621|971156", + "upstreamId": "858617|858618|858619|858620|858621|971156", "text": "Neurodevelopmental disorder with hypotonia, microcephaly, and seizures" }, { - "baseId": "858634", + "upstreamId": "858634", "text": "neurological and psychiatric features" }, { - "baseId": "858645|858646|858647|858648|858649|980550", + "upstreamId": "858645|858646|858647|858648|858649|980550", "text": "Skeletal dysplasia, mild, with joint laxity and advanced bone age" }, { - "baseId": "858664|858665|858666", + "upstreamId": "858664|858665|858666", "text": "Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline" }, { - "baseId": "858678|858679|858685|858686", + "upstreamId": "858678|858679|858685|858686", "text": "Sex reversal" }, { - "baseId": "858700|858703|858709|858710|858713", + "upstreamId": "858700|858703|858709|858710|858713", "text": "Early-onset dementia of unclear type" }, { - "baseId": "858720", + "upstreamId": "858720", "text": "Abnormal peripheral nervous system morphology" }, { - "baseId": "858734", + "upstreamId": "858734", "text": "Increased muscle fatiguability" }, { - "baseId": "858734", + "upstreamId": "858734", "text": "Congenital ptosis" }, { - "baseId": "858734", + "upstreamId": "858734", "text": "Fatigable weakness" }, { - "baseId": "858736|858737", + "upstreamId": "858736|858737", "text": "MSTO1-related disorder" }, { - "baseId": "858739", + "upstreamId": "858739", "text": "TOMM70-related neurodevelopmental disorder" }, { - "baseId": "858742|858751", + "upstreamId": "858742|858751", "text": "FAM177A1-related disorder" }, { - "baseId": "858746", + "upstreamId": "858746", "text": "CDKL5-related disorder" }, { - "baseId": "858747", + "upstreamId": "858747", "text": "HNRNPA1-related multisystem proteinopathy" }, { - "baseId": "858765|858766", + "upstreamId": "858765|858766", "text": "Severe muscular hypotonia" }, { - "baseId": "858768|858769", + "upstreamId": "858768|858769", "text": "Focal clonic seizures" }, { - "baseId": "858793|983721", + "upstreamId": "858793|983721", "text": "Hermansky-Pudlak syndrome 11" }, { - "baseId": "858794|858795", + "upstreamId": "858794|858795", "text": "Hereditary late onset Parkinson disease" }, { - "baseId": "859391", + "upstreamId": "859391", "text": "Normochromic microcytic anemia" }, { - "baseId": "860991", + "upstreamId": "860991", "text": "21q22.11q22.12 microdeletion syndrome" }, { - "baseId": "861030|861031|861032|861033|861034", + "upstreamId": "861030|861031|861032|861033|861034", "text": "Lissencephaly 10" }, { - "baseId": "861030|861031|861032|861033|861034|967107|967108|967109|967110", + "upstreamId": "861030|861031|861032|861033|861034|967107|967108|967109|967110", "text": "Posterior Predominant Lissencephaly" }, { - "baseId": "861063|861064", + "upstreamId": "861063|861064", "text": "Deficiency of ADA2" }, { - "baseId": "861067|861068|861069", + "upstreamId": "861067|861068|861069", "text": "Epilepsy, progressive myoclonic, 11" }, { - "baseId": "861071|861072|861073|861074|861075", + "upstreamId": "861071|861072|861073|861074|861075", "text": "Armfield X-linked mental retardation syndrome" }, { - "baseId": "861119|861120|861121", + "upstreamId": "861119|861120|861121", "text": "Autism, susceptibility to, 20" }, { - "baseId": "861150|861151|861152|861153|861154", + "upstreamId": "861150|861151|861152|861153|861154", "text": "Galactosemia 4" }, { - "baseId": "861157|861158|861159|861160|861161|861162", + "upstreamId": "861157|861158|861159|861160|861161|861162", "text": "Seizures, early-onset, with neurodegeneration and brain calcifications" }, { - "baseId": "861247|861248|861249|861250|861251|861252", + "upstreamId": "861247|861248|861249|861250|861251|861252", "text": "Neurodevelopmental disorder with hypotonia and cerebellar atrophy, with or without seizures" }, { - "baseId": "861328", + "upstreamId": "861328", "text": "Amyotrophic lateral sclerosis-parkinsonism-dementia complex" }, { - "baseId": "861426", + "upstreamId": "861426", "text": "Madras motor neuron disease" }, { - "baseId": "861611|961496|961497", + "upstreamId": "861611|961496|961497", "text": "ASH1L-related neurodevelopmental disorders" }, { - "baseId": "861619", + "upstreamId": "861619", "text": "CTNNB1-related syndromic intellectual disability" }, { - "baseId": "861620|977198", + "upstreamId": "861620|977198", "text": "ITPR1-related syndromic and non-syndromic hereditary ataxias" }, { - "baseId": "861623", + "upstreamId": "861623", "text": "FBXW11-related neurodevelopmental, brain, eye, and digit anomalies" }, { - "baseId": "861624", + "upstreamId": "861624", "text": "MEF2C-related complex neurodevelopmental disorder" }, { - "baseId": "861626", + "upstreamId": "861626", "text": "SOX4-related neurodevelopmental disorder" }, { - "baseId": "861627|977226|977227", + "upstreamId": "861627|977226|977227", "text": "KMT2C-related disorders" }, { - "baseId": "861630|861631", + "upstreamId": "861630|861631", "text": "RP1-related retinal dystrophy" }, { - "baseId": "861633", + "upstreamId": "861633", "text": "VCP-related multisystem proteinopathy" }, { - "baseId": "861634", + "upstreamId": "861634", "text": "CAMK2G-related syndromic intellectual disability" }, { - "baseId": "861635|977244", + "upstreamId": "861635|977244", "text": "GRIA4-related neurodevelopmental disorder" }, { - "baseId": "861639|961524", + "upstreamId": "861639|961524", "text": "MED13L-related neurodevelopmental disorder" }, { - "baseId": "861644", + "upstreamId": "861644", "text": "DYNC1H1-related neuronopathy" }, { - "baseId": "861647|961537", + "upstreamId": "861647|961537", "text": "USP7-related neurodevelopmental disorder" }, { - "baseId": "861648", + "upstreamId": "861648", "text": "STAT5B-related growth hormone insensitivity syndrome" }, { - "baseId": "861649", + "upstreamId": "861649", "text": "MED13-related neurodevelopmental disorder" }, { - "baseId": "861657|861658", + "upstreamId": "861657|861658", "text": "SPTBN4-related neurodevelopmental disorder" }, { - "baseId": "861676|861677|861678|861679|861680", + "upstreamId": "861676|861677|861678|861679|861680", "text": "Congenital disorder of glycosylation, type iit" }, { - "baseId": "865227|865228|865229|865230|865231", + "upstreamId": "865227|865228|865229|865230|865231", "text": "Microcephaly, developmental delay, and brittle hair syndrome" }, { - "baseId": "868122", + "upstreamId": "868122", "text": "HBD-Related Disorders" }, { - "baseId": "896246|961559", + "upstreamId": "896246|961559", "text": "Pseudo-torch syndrome 3" }, { - "baseId": "900539", + "upstreamId": "900539", "text": "COL6A5 POLYMORPHISM" }, { - "baseId": "903683|903684|903685|903686|903687", + "upstreamId": "903683|903684|903685|903686|903687", "text": "Syndrome with microcephaly as major feature" }, { - "baseId": "904073", + "upstreamId": "904073", "text": "Retinitis pigmentosa 6" }, { - "baseId": "904231|904232|904235|904236", + "upstreamId": "904231|904232|904235|904236", "text": "Premenstrual dysphoric disorder" }, { - "baseId": "904258|904262", + "upstreamId": "904258|904262", "text": "46,xx sex reversal 5" }, { - "baseId": "904752", + "upstreamId": "904752", "text": "VARIANT OF UNKNOWN SIGNIFICANCE" }, { - "baseId": "904965|905007", + "upstreamId": "904965|905007", "text": "Short telomere length" }, { - "baseId": "904965|905004|905007|961210|961211|961212|961213|961214|961215|961216|961217", + "upstreamId": "904965|905004|905007|961210|961211|961212|961213|961214|961215|961216|961217", "text": "Interstitial pulmonary abnormality" }, { - "baseId": "905007", + "upstreamId": "905007", "text": "Premature graying of hair" }, { - "baseId": "905007", + "upstreamId": "905007", "text": "Macrocytic anemia" }, { - "baseId": "905018|905021", + "upstreamId": "905018|905021", "text": "ARTHROGRYPOSIS, DISTAL, TYPE 1C" }, { - "baseId": "905022|905023|905024|905025|905026|905027|905028", + "upstreamId": "905022|905023|905024|905025|905026|905027|905028", "text": "sellar metastasis from primary bronchial carcinoid tumor" }, { - "baseId": "905814|905815|905816|905817|905818|905819", + "upstreamId": "905814|905815|905816|905817|905818|905819", "text": "WBP11 spliceosomopathy" }, { - "baseId": "905821", + "upstreamId": "905821", "text": "Klippel-Tr\u00c3\u00a9naunay syndrome" }, { - "baseId": "905823", + "upstreamId": "905823", "text": "Subcutaneous venous lacunae" }, { - "baseId": "905823", + "upstreamId": "905823", "text": "Cerebral cavernous angioma" }, { - "baseId": "905824|969298|969299", + "upstreamId": "905824|969298|969299", "text": "Chromosome 9p deletion syndrome" }, { - "baseId": "905852|905853|905854|905856", + "upstreamId": "905852|905853|905854|905856", "text": "Noonan syndrome 13" }, { - "baseId": "905857", + "upstreamId": "905857", "text": "May-Hegglin Disorder" }, { - "baseId": "906167", + "upstreamId": "906167", "text": "Hyperlipoproteinemia" }, { - "baseId": "906173", + "upstreamId": "906173", "text": "Sex Hormone-Binding Globulin Deficiency" }, { - "baseId": "906215|906216|906217|976526", + "upstreamId": "906215|906216|906217|976526", "text": "Neurodevelopmental, jaw, eye, and digital syndrome" }, { - "baseId": "906219", + "upstreamId": "906219", "text": "Fanconi renotubular syndrome 5" }, { - "baseId": "906274", + "upstreamId": "906274", "text": "Caroli disease" }, { - "baseId": "915004", + "upstreamId": "915004", "text": "Developmental and epileptic encephalopathy, 86" }, { - "baseId": "916784|916785|916786|916787|916788", + "upstreamId": "916784|916785|916786|916787|916788", "text": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES" }, { - "baseId": "916789", + "upstreamId": "916789", "text": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES" }, { - "baseId": "917577", + "upstreamId": "917577", "text": "Deafness, autosomal dominant 77" }, { - "baseId": "917578|917579", + "upstreamId": "917578|917579", "text": "Sorbitol dehydrogenase deficiency with peripheral neuropathy" }, { - "baseId": "917581", + "upstreamId": "917581", "text": "9p partial trisomy syndrome" }, { - "baseId": "917759", + "upstreamId": "917759", "text": "Joint dislocation" }, { - "baseId": "917803", + "upstreamId": "917803", "text": "Primary Immune Deficiency" }, { - "baseId": "917805", + "upstreamId": "917805", "text": "Sepsis, susceptibility to" }, { - "baseId": "917816|917817", + "upstreamId": "917816|917817", "text": "Arrhythmogenic right ventricular dysplasia, familial, 14" }, { - "baseId": "918166|918167|962120|962150|964098|964099|964100|964101", + "upstreamId": "918166|918167|962120|962150|964098|964099|964100|964101", "text": "Developmental and epileptic encephalopathy, 87" }, { - "baseId": "918166", + "upstreamId": "918166", "text": "CDK19-related condition" }, { - "baseId": "918182|918183|918502", + "upstreamId": "918182|918183|918502", "text": "OCULOCUTANEOUS ALBINISM, TYPE VIII" }, { - "baseId": "918184", + "upstreamId": "918184", "text": "Left ventricular diastolic dysfunction" }, { - "baseId": "918257", + "upstreamId": "918257", "text": "Autosomal recessive infantile hypercalcemia" }, { - "baseId": "918408", + "upstreamId": "918408", "text": "Childhood-onset autosomal recessive myopathy with external ophthalmoplegia" }, { - "baseId": "918499", + "upstreamId": "918499", "text": "vanishing white matter disease" }, { - "baseId": "918571", + "upstreamId": "918571", "text": "Headache" }, { - "baseId": "918571", + "upstreamId": "918571", "text": "Dysphasia" }, { - "baseId": "918813", + "upstreamId": "918813", "text": "SOX2-Related Disorder" }, { - "baseId": "920333|974551|974552|974553|974554|974556|980559|980950", + "upstreamId": "920333|974551|974552|974553|974554|974556|980559|980950", "text": "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND AXONAL PERIPHERAL NEUROPATHY" }, { - "baseId": "920547|920548|920549", + "upstreamId": "920547|920548|920549", "text": "IFAP syndrome 2" }, { - "baseId": "920547|969581", + "upstreamId": "920547|969581", "text": "Hereditary mucoepithelial dysplasia" }, { - "baseId": "920551", + "upstreamId": "920551", "text": "C6 A/B POLYMORPHISM" }, { - "baseId": "920602", + "upstreamId": "920602", "text": "22q13.3 interstitial deletion" }, { - "baseId": "920612|920613|920614", + "upstreamId": "920612|920613|920614", "text": "Treacher Collins syndrome 4" }, { - "baseId": "920615|920616", + "upstreamId": "920615|920616", "text": "Autosomal recessive chronic granulomatous disease 5" }, { - "baseId": "921239", + "upstreamId": "921239", "text": "Limb myoclonus" }, { - "baseId": "921253|921255|921256", + "upstreamId": "921253|921255|921256", "text": "Motor tics" }, { - "baseId": "921256", + "upstreamId": "921256", "text": "Bradykinesia" }, { - "baseId": "934579", + "upstreamId": "934579", "text": "ABL1-Related Disorder" }, { - "baseId": "952954", + "upstreamId": "952954", "text": "Alport syndrome type 2" }, { - "baseId": "961063", + "upstreamId": "961063", "text": "Retinitis pigmentosa 32" }, { - "baseId": "961064", + "upstreamId": "961064", "text": "Oculopharyngodistal myopathy 2" }, { - "baseId": "961125", + "upstreamId": "961125", "text": "Glycoprotein storage disease" }, { - "baseId": "961226|961229|961921|963436", + "upstreamId": "961226|961229|961921|963436", "text": "Motor axonal neuropathy" }, { - "baseId": "961260", + "upstreamId": "961260", "text": "DNMT3A-Related Disorder" }, { - "baseId": "961281", + "upstreamId": "961281", "text": "COL12A1- Related Disorder" }, { - "baseId": "961282", + "upstreamId": "961282", "text": "PLOD3-Related Disorder" }, { - "baseId": "961300", + "upstreamId": "961300", "text": "LRP4-Related Disorder" }, { - "baseId": "961302", + "upstreamId": "961302", "text": "POLR3B-Related Disorder" }, { - "baseId": "961304", + "upstreamId": "961304", "text": "DIABLO-Related Hearing Loss" }, { - "baseId": "961326", + "upstreamId": "961326", "text": "TRAF7-Related Disorder" }, { - "baseId": "961328|961329", + "upstreamId": "961328|961329", "text": "CNOT1-Related Disorder" }, { - "baseId": "961330", + "upstreamId": "961330", "text": "CTCF-Related Disorder" }, { - "baseId": "961356", + "upstreamId": "961356", "text": "MSL3-Related Disorder" }, { - "baseId": "961358", + "upstreamId": "961358", "text": "MECP2-Related Disorder" }, { - "baseId": "961368", + "upstreamId": "961368", "text": "AKT3-Related Disorder" }, { - "baseId": "961406", + "upstreamId": "961406", "text": "DMD-Related Disorder" }, { - "baseId": "961432", + "upstreamId": "961432", "text": "Reduced tendon reflexes" }, { - "baseId": "961498|961499", + "upstreamId": "961498|961499", "text": "ATP13A2-related disorders" }, { - "baseId": "961503|961504", + "upstreamId": "961503|961504", "text": "SCN3A-related neurodevelopmental sisorder" }, { - "baseId": "961509", + "upstreamId": "961509", "text": "GRIA2-related neurodevelopmental disorder" }, { - "baseId": "961511", + "upstreamId": "961511", "text": "CYFIP2-related neurodevelopmental disorders" }, { - "baseId": "961522", + "upstreamId": "961522", "text": "KMT5B-related neurodevelopmental disorder" }, { - "baseId": "961523", + "upstreamId": "961523", "text": "PAK1-related neurodevelopmental disorders" }, { - "baseId": "961538", + "upstreamId": "961538", "text": "TAOK1-related neurodevelopmental disorder" }, { - "baseId": "961539", + "upstreamId": "961539", "text": "TANC2-related neurodevelopmental disorders" }, { - "baseId": "961540", + "upstreamId": "961540", "text": "POLG2-related spectrum disorders" }, { - "baseId": "961543", + "upstreamId": "961543", "text": "ATP1A3-related neurologic disorders" }, { - "baseId": "961544|977294", + "upstreamId": "961544|977294", "text": "CIC-related neurodevelopmental disorders" }, { - "baseId": "961545", + "upstreamId": "961545", "text": "POLD1-related disorders" }, { - "baseId": "961549", + "upstreamId": "961549", "text": "FLNA-related otopalatodigital spectrum disorders" }, { - "baseId": "961551", + "upstreamId": "961551", "text": "USP9X-related neurodevelopmental disorder" }, { - "baseId": "961552", + "upstreamId": "961552", "text": "Kabuki Syndrome - KDM6A" }, { - "baseId": "961556|961557", + "upstreamId": "961556|961557", "text": "Retinitis pigmentosa 89" }, { - "baseId": "961694", + "upstreamId": "961694", "text": "typical paroxysmal kinesigenic dyskinesia" }, { - "baseId": "961805|966209|966210|966211|966212", + "upstreamId": "961805|966209|966210|966211|966212", "text": "Deeah syndrome" }, { - "baseId": "961812|961813", + "upstreamId": "961812|961813", "text": "Hyper-IgE recurrent infection syndrome 5, autosomal recessive" }, { - "baseId": "961814", + "upstreamId": "961814", "text": "Developmental and epileptic encephalopathy, 88" }, { - "baseId": "961830|961831|961832|961833|961834", + "upstreamId": "961830|961831|961832|961833|961834", "text": "Familial intrahepatic cholestasis type 2" }, { - "baseId": "961853|961854", + "upstreamId": "961853|961854", "text": "Familial intrahepatic cholestasis type 3" }, { - "baseId": "961867", + "upstreamId": "961867", "text": "Distal trisomy 11q" }, { - "baseId": "961875", + "upstreamId": "961875", "text": "Immunodeficiency type 56" }, { - "baseId": "961896", + "upstreamId": "961896", "text": "Polyarteritis nodosa" }, { - "baseId": "961899", + "upstreamId": "961899", "text": "Turner syndrome" }, { - "baseId": "961906", + "upstreamId": "961906", "text": "Aortic valve stenosis" }, { - "baseId": "961935", + "upstreamId": "961935", "text": "WDR1 deficiency" }, { - "baseId": "961995|961996|962002", + "upstreamId": "961995|961996|962002", "text": "Generalized choriocapillaris dystrophy" }, { - "baseId": "962057", + "upstreamId": "962057", "text": "TRAPP-associated developmental delay" }, { - "baseId": "962060", + "upstreamId": "962060", "text": "SCAF4-associated mental retardation" }, { - "baseId": "962070", + "upstreamId": "962070", "text": "Late onset congenital glaucoma" }, { - "baseId": "962240|962241", + "upstreamId": "962240|962241", "text": "Chronic multifocal osteomyelitis" }, { - "baseId": "962268", + "upstreamId": "962268", "text": "Combined oxidative phosphorylation deficiency 45" }, { - "baseId": "962273", + "upstreamId": "962273", "text": "Combined oxidative phosphorylation deficiency 46" }, { - "baseId": "962274|962275", + "upstreamId": "962274|962275", "text": "Combined oxidative phosphorylation deficiency 47" }, { - "baseId": "962895|962896|962897|962898|962899|962900|962901|962902", + "upstreamId": "962895|962896|962897|962898|962899|962900|962901|962902", "text": "Lazy leukocyte syndrome" }, { - "baseId": "962903|962904|962905|962906|962907", + "upstreamId": "962903|962904|962905|962906|962907", "text": "Cone-rod synaptic disorder syndrome, congenital nonprogressive" }, { - "baseId": "962973", + "upstreamId": "962973", "text": "Immunodeficiency 69" }, { - "baseId": "962977|962978|962979", + "upstreamId": "962977|962978|962979", "text": "Immunodeficiency 70" }, { - "baseId": "963316|963317|963318|963319", + "upstreamId": "963316|963317|963318|963319", "text": "Neurodegeneration, infantile-onset, biotin-responsive" }, { - "baseId": "964135", + "upstreamId": "964135", "text": "Renal neoplasm" }, { - "baseId": "964259|976826", + "upstreamId": "964259|976826", "text": "Severe hydrops fetalis" }, { - "baseId": "964658", + "upstreamId": "964658", "text": "Thrombocytosis" }, { - "baseId": "964711", + "upstreamId": "964711", "text": "SMAD2-congenital heart disease and multiple congenital anomaly disorder" }, { - "baseId": "964726|964727|964728|964729", + "upstreamId": "964726|964727|964728|964729", "text": "Li-Ghorbani-Weisz-Hubshman syndrome" }, { - "baseId": "964735", + "upstreamId": "964735", "text": "FLNC-associated cardiomyopathy" }, { - "baseId": "964792", + "upstreamId": "964792", "text": "X-\u00adlinked recessive mitochondrial myopathy" }, { - "baseId": "964792", + "upstreamId": "964792", "text": "Cognitive impairment and autistic features" }, { - "baseId": "964793", + "upstreamId": "964793", "text": "NSD2-associated disorder" }, { - "baseId": "964793", + "upstreamId": "964793", "text": "atypical Wolf-Hirschhorn syndrome" }, { - "baseId": "964794", + "upstreamId": "964794", "text": "CSDE1-associated disorder" }, { - "baseId": "964799", + "upstreamId": "964799", "text": "AGO1-associated disorder" }, { - "baseId": "964800", + "upstreamId": "964800", "text": "MANEAL-associated disorder" }, { - "baseId": "964806", + "upstreamId": "964806", "text": "AFF3-associated disorder" }, { - "baseId": "964808", + "upstreamId": "964808", "text": "ATP5G3-associated disorder" }, { - "baseId": "964826", + "upstreamId": "964826", "text": "HIST1H4C-associated disorder" }, { - "baseId": "964830", + "upstreamId": "964830", "text": "POU3F2-associated disorder" }, { - "baseId": "964835", + "upstreamId": "964835", "text": "DNAJC30-associated disorder" }, { - "baseId": "964836", + "upstreamId": "964836", "text": "ERI1-associated disorder" }, { - "baseId": "964849", + "upstreamId": "964849", "text": "SETD1B-associated disorder" }, { - "baseId": "964864|964865|964866|964867|964868|964869|964870", + "upstreamId": "964864|964865|964866|964867|964868|964869|964870", "text": "SPATA5L1-associated disorder" }, { - "baseId": "964894", + "upstreamId": "964894", "text": "VPS16-associated disorder" }, { - "baseId": "964981|964982|964983|964984", + "upstreamId": "964981|964982|964983|964984", "text": "Immunodeficiency 72 with autoinflammation" }, { - "baseId": "964987|984270|984271", + "upstreamId": "964987|984270|984271", "text": "Syndromic congenital hemolytic and dyserythropoietic anemia" }, { - "baseId": "965271|980757", + "upstreamId": "965271|980757", "text": "Skeletal muscle atrophy" }, { - "baseId": "965271", + "upstreamId": "965271", "text": "skeletal contractures" }, { - "baseId": "965276", + "upstreamId": "965276", "text": "Metopic ridging-ptosis-facial dysmorphism syndrome" }, { - "baseId": "965340|965342|965344", + "upstreamId": "965340|965342|965344", "text": "Autoimmune thrombocytopenia" }, { - "baseId": "965340|965344", + "upstreamId": "965340|965344", "text": "Autoimmune hemolytic anemia" }, { - "baseId": "965353", + "upstreamId": "965353", "text": "Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia" }, { - "baseId": "965363|965364", + "upstreamId": "965363|965364", "text": "Immunodeficiency 74, covid19-related, x-linked" }, { - "baseId": "965405", + "upstreamId": "965405", "text": "Adult Fanconi syndrome" }, { - "baseId": "965406|965407|965408", + "upstreamId": "965406|965407|965408", "text": "Autosomal dominant lamellar ichthyosis" }, { - "baseId": "965430", + "upstreamId": "965430", "text": "Very long chain fatty acid accumulation" }, { - "baseId": "965432", + "upstreamId": "965432", "text": "Intellectual developmental disorder with autistic features and language delay, with or without seizures" }, { - "baseId": "965446", + "upstreamId": "965446", "text": "Abnormal CNS myelination" }, { - "baseId": "965604", + "upstreamId": "965604", "text": "Hemophagocytic lymphohistiocytosis, familial, 6" }, { - "baseId": "965607|965608|965609|965610|965611|965643|965644|971503", + "upstreamId": "965607|965608|965609|965610|965611|965643|965644|971503", "text": "Intellectual developmental disorder with seizures and language delay" }, { - "baseId": "965618", + "upstreamId": "965618", "text": "Sensory autonomic neuropathy with intellectual disability" }, { - "baseId": "965634|965635|965636|965637", + "upstreamId": "965634|965635|965636|965637", "text": "Optic atrophy with negative electroretinograms" }, { - "baseId": "965639|965640", + "upstreamId": "965639|965640", "text": "Mitochondrial complex 1 deficiency, nuclear type 35" }, { - "baseId": "965645", + "upstreamId": "965645", "text": "Mitochondrial complex 4 deficiency, nuclear type 21" }, { - "baseId": "965646|965647|965648|965649", + "upstreamId": "965646|965647|965648|965649", "text": "Oocyte maturation defect 8" }, { - "baseId": "965772|965773", + "upstreamId": "965772|965773", "text": "Rajab interstitial lung disease with brain calcifications 2" }, { - "baseId": "965774|965775|965776|965777|965778", + "upstreamId": "965774|965775|965776|965777|965778", "text": "Oocyte maturation defect 9" }, { - "baseId": "965786", + "upstreamId": "965786", "text": "Epidermolysis Bullosa Distrophica Autosomal Recessive (RDEB)" }, { - "baseId": "965878", + "upstreamId": "965878", "text": "GNB2-related condition" }, { - "baseId": "965882", + "upstreamId": "965882", "text": "MTSS2-related neurodevelopmental disorder" }, { - "baseId": "965883", + "upstreamId": "965883", "text": "EZH1-related disorder" }, { - "baseId": "965916", + "upstreamId": "965916", "text": "ATP5PO-related disorder" }, { - "baseId": "965917", + "upstreamId": "965917", "text": "microdeletion 4p16.3p16.1" }, { - "baseId": "965918", + "upstreamId": "965918", "text": "duplication 8q12" }, { - "baseId": "965920", + "upstreamId": "965920", "text": "10q11.22q11.23 microdeletion including CHAT and SLC18A3" }, { - "baseId": "965926", + "upstreamId": "965926", "text": "Chromosome 19q13.11 deletion syndrome" }, { - "baseId": "966061", + "upstreamId": "966061", "text": "Mitochondrial complex 4 deficiency, nuclear type 20" }, { - "baseId": "966074|966104", + "upstreamId": "966074|966104", "text": "Occult maculopathy" }, { - "baseId": "966146", + "upstreamId": "966146", "text": "polysyndactyly" }, { - "baseId": "966156", + "upstreamId": "966156", "text": "Bachmann-Bupp syndrome" }, { - "baseId": "966160|966161", + "upstreamId": "966160|966161", "text": "MADD-related condition" }, { - "baseId": "966162", + "upstreamId": "966162", "text": "MPEG1-related immunodeficiency" }, { - "baseId": "966164|966165", + "upstreamId": "966164|966165", "text": "UNC45A-associated Cholestasis" }, { - "baseId": "966164|966165", + "upstreamId": "966164|966165", "text": "Impaired Hearing" }, { - "baseId": "966171", + "upstreamId": "966171", "text": "ELFN1-related condition" }, { - "baseId": "966200|966201|966202|966203", + "upstreamId": "966200|966201|966202|966203", "text": "Combined oxidative phosphorylation deficiency 48" }, { - "baseId": "966360", + "upstreamId": "966360", "text": "Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies" }, { - "baseId": "966618|969329", + "upstreamId": "966618|969329", "text": "Global proximal tubulopathy" }, { - "baseId": "966618|969329", + "upstreamId": "966618|969329", "text": "Cholestatic liver disease" }, { - "baseId": "966620", + "upstreamId": "966620", "text": "Combined oxidative phosphorylation deficiency 50" }, { - "baseId": "966621", + "upstreamId": "966621", "text": "Combined oxidative phosphorylation deficiency 49" }, { - "baseId": "966697|966704", + "upstreamId": "966697|966704", "text": "Right aortic arch" }, { - "baseId": "966700", + "upstreamId": "966700", "text": "Fetal ascites" }, { - "baseId": "966701|966702|966703|966707|966708|966735", + "upstreamId": "966701|966702|966703|966707|966708|966735", "text": "Median cleft lip and palate" }, { - "baseId": "966707|966708|966712|966713", + "upstreamId": "966707|966708|966712|966713", "text": "Dysgenesis of the cerebellar vermis" }, { - "baseId": "966709", + "upstreamId": "966709", "text": "Cerebral venous angioma" }, { - "baseId": "966710", + "upstreamId": "966710", "text": "Gastrointestinal obstruction" }, { - "baseId": "966716|966717", + "upstreamId": "966716|966717", "text": "Deformed rib cage" }, { - "baseId": "966716|966717", + "upstreamId": "966716|966717", "text": "Abnormality of the lung" }, { - "baseId": "966718|966719", + "upstreamId": "966718|966719", "text": "Anencephaly" }, { - "baseId": "966883", + "upstreamId": "966883", "text": "GH-secreting pituitary adenoma" }, { - "baseId": "966904", + "upstreamId": "966904", "text": "Coenzyme q10 deficiency, primary, 9" }, { - "baseId": "967111|967112", + "upstreamId": "967111|967112", "text": "GET4 deficiency" }, { - "baseId": "967113|967114|967115|967116|967117|967118|967119|967120", + "upstreamId": "967113|967114|967115|967116|967117|967118|967119|967120", "text": "Familial prostate carcinoma" }, { - "baseId": "967133|967135", + "upstreamId": "967133|967135", "text": "Cleft lip/palate" }, { - "baseId": "967196", + "upstreamId": "967196", "text": "Colorectal cancer susceptibility 12" }, { - "baseId": "967234", + "upstreamId": "967234", "text": "Complex I deficiency" }, { - "baseId": "967285|967286|967287|967288|967289|970516|970517", + "upstreamId": "967285|967286|967287|967288|967289|970516|970517", "text": "Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities" }, { - "baseId": "967290", + "upstreamId": "967290", "text": "Spastic paraplegia 83, autosomal recessive" }, { - "baseId": "969091", + "upstreamId": "969091", "text": "constitutional indocyanine green excretory defect" }, { - "baseId": "969133", + "upstreamId": "969133", "text": "CNTNAP5-associated intellectual disability" }, { - "baseId": "969135", + "upstreamId": "969135", "text": "mircrodeletion 17q11.2q12 including TMEM98 and SUZ12" }, { - "baseId": "969254", + "upstreamId": "969254", "text": "Cornelia de Lange" }, { - "baseId": "969270", + "upstreamId": "969270", "text": "Weakness of facial musculature" }, { - "baseId": "969290", + "upstreamId": "969290", "text": "Distal 17p13.3 microdeletion syndrome" }, { - "baseId": "969296", + "upstreamId": "969296", "text": "2q24 microdeletion syndrome" }, { - "baseId": "969297", + "upstreamId": "969297", "text": "Deletion 6q16 q21" }, { - "baseId": "969309|969310", + "upstreamId": "969309|969310", "text": "POC1A-related syndrome" }, { - "baseId": "969573|969574", + "upstreamId": "969573|969574", "text": "Myofibrillar myopathy 10" }, { - "baseId": "969575|969576|969577", + "upstreamId": "969575|969576|969577", "text": "Spermatogenic failure 44" }, { - "baseId": "969590", + "upstreamId": "969590", "text": "Mitochondrial complex 4 deficiency, nuclear type 19" }, { - "baseId": "969772", + "upstreamId": "969772", "text": "Cleft lip" }, { - "baseId": "969774", + "upstreamId": "969774", "text": "Cornelia de Lange-like syndrome" }, { - "baseId": "969784", + "upstreamId": "969784", "text": "Craniofacial-ulnar-renal syndrome" }, { - "baseId": "970005|970006|970007", + "upstreamId": "970005|970006|970007", "text": "Microcephalic primordial dwarfism" }, { - "baseId": "970040|970041|970042", + "upstreamId": "970040|970041|970042", "text": "Neurodevelopmental disorder with speech impairment and dysmorphic facies" }, { - "baseId": "970152|970153", + "upstreamId": "970152|970153", "text": "Combined oxidative phosphorylation deficiency 51" }, { - "baseId": "970321", + "upstreamId": "970321", "text": "VERTEBRAL HYPERSEGMENTATION AND OROFACIAL ANOMALIES" }, { - "baseId": "970341", + "upstreamId": "970341", "text": "Intellectual Disability with multiple congenital anomalies" }, { - "baseId": "970484", + "upstreamId": "970484", "text": "Vitamin D-dependent rickets, type 3" }, { - "baseId": "970520", + "upstreamId": "970520", "text": "brain structure abnormalities" }, { - "baseId": "970525", + "upstreamId": "970525", "text": "Blepharophimosis intellectual disability syndrome" }, { - "baseId": "970922", + "upstreamId": "970922", "text": "Epilepsy, idiopathic generalized, susceptibility to, 16" }, { - "baseId": "971020", + "upstreamId": "971020", "text": "Abnormality of the face" }, { - "baseId": "971106", + "upstreamId": "971106", "text": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, EPILEPSY, AND GAIT ABNORMALITIES" }, { - "baseId": "971107|974445|974447|974448|974450", + "upstreamId": "971107|974445|974447|974448|974450", "text": "NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, IMPAIRED LANGUAGE, AND GAIT ABNORMALITIES" }, { - "baseId": "971187", + "upstreamId": "971187", "text": "Spastic tetraplegia" }, { - "baseId": "971289", + "upstreamId": "971289", "text": "Arachnoid cyst" }, { - "baseId": "971344", + "upstreamId": "971344", "text": "Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome" }, { - "baseId": "971353|971354|971355|971356|971357", + "upstreamId": "971353|971354|971355|971356|971357", "text": "Neurodevelopmental disorder with alopecia and brain abnormalities" }, { - "baseId": "971551", + "upstreamId": "971551", "text": "Susceptibility to strabismus" }, { - "baseId": "971566", + "upstreamId": "971566", "text": "Syndromic global developmental delay" }, { - "baseId": "971568", + "upstreamId": "971568", "text": "Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1" }, { - "baseId": "971604", + "upstreamId": "971604", "text": "Leukodystrophy, hypomyelinating, 20" }, { - "baseId": "971613|971614|971615|971616", + "upstreamId": "971613|971614|971615|971616", "text": "Neurodevelopmental disorder with seizures and brain atrophy" }, { - "baseId": "971617", + "upstreamId": "971617", "text": "Neurodevelopmental disorder with microcephaly, seizures, and brain atrophy" }, { - "baseId": "972618", + "upstreamId": "972618", "text": "Primary bone dysplasia with multiple joint dislocations" }, { - "baseId": "972751|972752|972753|972754", + "upstreamId": "972751|972752|972753|972754", "text": "Delpire-McNeill syndrome" }, { - "baseId": "972756", + "upstreamId": "972756", "text": "Deafness, autosomal dominant 79" }, { - "baseId": "972817|972818|972819|972820|972821", + "upstreamId": "972817|972818|972819|972820|972821", "text": "Spermatogenic failure 45" }, { - "baseId": "972822", + "upstreamId": "972822", "text": "Deafness, autosomal recessive 116" }, { - "baseId": "973022", + "upstreamId": "973022", "text": "Congenital central hypoventilation syndrome, with or without Hirschsprung disease" }, { - "baseId": "973047", + "upstreamId": "973047", "text": "EEF1A2-related disorders" }, { - "baseId": "973088", + "upstreamId": "973088", "text": "Mitral valve prolapse 3" }, { - "baseId": "973089|973090", + "upstreamId": "973089|973090", "text": "SPERMATOGENIC FAILURE 47" }, { - "baseId": "974156|976877|976878|976879|976881|976882", + "upstreamId": "974156|976877|976878|976879|976881|976882", "text": "KAYA-BARAKAT-MASSON SYNDROME" }, { - "baseId": "974478", + "upstreamId": "974478", "text": "SLC2A1-Related Disorders" }, { - "baseId": "974528", + "upstreamId": "974528", "text": "Hemiparkinsonism-hemiatrophy syndrome" }, { - "baseId": "974888|974889", + "upstreamId": "974888|974889", "text": "TMEM53-related craniotubular dysplasia" }, { - "baseId": "975725", + "upstreamId": "975725", "text": "Autoimmune connective tissue disease and vasculitis" }, { - "baseId": "975787", + "upstreamId": "975787", "text": "SIM1-Related Disorders" }, { - "baseId": "975878", + "upstreamId": "975878", "text": "MED12-related disorder" }, { - "baseId": "975890", + "upstreamId": "975890", "text": "Complement component 4b deficiency" }, { - "baseId": "975899|975900", + "upstreamId": "975899|975900", "text": "Chondrodysplasia-pseudohermaphroditism syndrome" }, { - "baseId": "975905|975906|975907", + "upstreamId": "975905|975906|975907", "text": "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES" }, { - "baseId": "976028", + "upstreamId": "976028", "text": "RNF2-associated neurodevelopmental condition" }, { - "baseId": "976029", + "upstreamId": "976029", "text": "BAP1-associated neurodevelopmental disorder" }, { - "baseId": "976511|976512", + "upstreamId": "976511|976512", "text": "Congenital bilateral perisylvian syndrome" }, { - "baseId": "976533|976534", + "upstreamId": "976533|976534", "text": "CARDIOFACIONEURODEVELOPMENTAL SYNDROME" }, { - "baseId": "976557|976558", + "upstreamId": "976557|976558", "text": "MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2" }, { - "baseId": "976563|976564|976565|976566|976567|976568|976569", + "upstreamId": "976563|976564|976565|976566|976567|976568|976569", "text": "NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES" }, { - "baseId": "976583", + "upstreamId": "976583", "text": "Pure gonadal dysgenesis 46,XY" }, { - "baseId": "976589|976590", + "upstreamId": "976589|976590", "text": "RNH1-related condition" }, { - "baseId": "976883|976884|976885|976886|976887", + "upstreamId": "976883|976884|976885|976886|976887", "text": "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89" }, { - "baseId": "976888|976889|976890|976891", + "upstreamId": "976888|976889|976890|976891", "text": "OSTEOGENESIS IMPERFECTA, TYPE XXI" }, { - "baseId": "977163|977164|977313|977314|977316", + "upstreamId": "977163|977164|977313|977314|977316", "text": "Skin rash" }, { - "baseId": "977163|977164|977314|977316", + "upstreamId": "977163|977164|977314|977316", "text": "Arthritis" }, { - "baseId": "977172", + "upstreamId": "977172", "text": "ZBTB18-related intellectual disability" }, { - "baseId": "977177", + "upstreamId": "977177", "text": "GLI2-related disorders" }, { - "baseId": "977181", + "upstreamId": "977181", "text": "SCN3A-related neurodevelopmental disorder" }, { - "baseId": "977182", + "upstreamId": "977182", "text": "SCN2A-related generalized epilepsy with febrile seizures plus" }, { - "baseId": "977183", + "upstreamId": "977183", "text": "HECW2-related neurodevelopmental disorder" }, { - "baseId": "977184", + "upstreamId": "977184", "text": "KIF1A-related disorders" }, { - "baseId": "977186|977187", + "upstreamId": "977186|977187", "text": "SLC5A6-related disorder" }, { - "baseId": "977197", + "upstreamId": "977197", "text": "MED12L-related neurodevelopmental disorder" }, { - "baseId": "977200", + "upstreamId": "977200", "text": "CACNA1D-related neurodevelopmental and endocrine disorders" }, { - "baseId": "977204|977205", + "upstreamId": "977204|977205", "text": "PLK4-related microcephaly and growth failure with or without ocular features" }, { - "baseId": "977218", + "upstreamId": "977218", "text": "HIVEP2-related syndromic intellectual disability" }, { - "baseId": "977219", + "upstreamId": "977219", "text": "TUBB-related tubulinopathy" }, { - "baseId": "977229|977230", + "upstreamId": "977229|977230", "text": "ACTB-related disorders" }, { - "baseId": "977231|977232", + "upstreamId": "977231|977232", "text": "TRRAP-related neurodevelopmental disorder" }, { - "baseId": "977234", + "upstreamId": "977234", "text": "CHD7-related disorders" }, { - "baseId": "977235", + "upstreamId": "977235", "text": "STXBP1-related neurodevelopmental disorder" }, { - "baseId": "977241", + "upstreamId": "977241", "text": "CNNM2-related neurodevelopmental disorder and hypomagnesemia" }, { - "baseId": "977243", + "upstreamId": "977243", "text": "WAC-related neurodevelopmental disorder" }, { - "baseId": "977251", + "upstreamId": "977251", "text": "TRPV4-associated skeletal dysplasias" }, { - "baseId": "977259", + "upstreamId": "977259", "text": "SMARCC2-related neurodevelopmental disorder" }, { - "baseId": "977264|977265", + "upstreamId": "977264|977265", "text": "NBEA-related intellectual disability" }, { - "baseId": "977270", + "upstreamId": "977270", "text": "TRAPPC6B-related neurodevelopmental disorder" }, { - "baseId": "977271", + "upstreamId": "977271", "text": "TGFB3-related connective tissue disorders" }, { - "baseId": "977273", + "upstreamId": "977273", "text": "NR2F2-related congenital heart defects" }, { - "baseId": "977284", + "upstreamId": "977284", "text": "BPTF-related neurodevelopmental disorder" }, { - "baseId": "977291", + "upstreamId": "977291", "text": "SMAD2-related disorders" }, { - "baseId": "977295", + "upstreamId": "977295", "text": "CSNK2A1-related neurodevelopmental syndrome" }, { - "baseId": "977300", + "upstreamId": "977300", "text": "PTCHD1-related autism and intellectual disability" }, { - "baseId": "977303", + "upstreamId": "977303", "text": "BCOR-related disorders" }, { - "baseId": "977304", + "upstreamId": "977304", "text": "CASK-related intellectual disability and microcephaly with pontine and cerebellar hypoplasia" }, { - "baseId": "977311", + "upstreamId": "977311", "text": "OGT-related X-linked syndromic intellectual disability" }, { - "baseId": "977312", + "upstreamId": "977312", "text": "BRWD3-related X-linked syndromic intellectual disability" }, { - "baseId": "977313", + "upstreamId": "977313", "text": "Joint swelling" }, { - "baseId": "977320|977322", + "upstreamId": "977320|977322", "text": "ENDOVES (EN1-associated dorsoventral syndrome)" }, { - "baseId": "977321", + "upstreamId": "977321", "text": "EN1 syndrome" }, { - "baseId": "977323", + "upstreamId": "977323", "text": "Congenital miosis" }, { - "baseId": "977365", + "upstreamId": "977365", "text": "FRONTOTEMPORAL DEMENTIA WITHOUT AMYOTROPHIC LATERAL SCLEROSIS 6, WITH NEUROFIBRILLARY TANGLES" }, { - "baseId": "977366|977367", + "upstreamId": "977366|977367", "text": "RITSCHER-SCHINZEL SYNDROME 3" }, { - "baseId": "977368|977369|977370|977371|977372", + "upstreamId": "977368|977369|977370|977371|977372", "text": "THROMBOCYTOPENIA 7" }, { - "baseId": "977394|977395|977396|977397", + "upstreamId": "977394|977395|977396|977397", "text": "CARDIOACROFACIAL DYSPLASIA 2" }, { - "baseId": "977398", + "upstreamId": "977398", "text": "CARDIOACROFACIAL DYSPLASIA 1" }, { - "baseId": "980127|980128|980129|980130|980131", + "upstreamId": "980127|980128|980129|980130|980131", "text": "SPERMATOGENIC FAILURE 49" }, { - "baseId": "980132", + "upstreamId": "980132", "text": "SPERMATOGENIC FAILURE 50" }, { - "baseId": "980132", + "upstreamId": "980132", "text": "PREMATURE OVARIAN FAILURE 17" }, { - "baseId": "980410|980411", + "upstreamId": "980410|980411", "text": "Rheumatic heart disease" }, { - "baseId": "980451", + "upstreamId": "980451", "text": "Coronary heart disease 1" }, { - "baseId": "980451", + "upstreamId": "980451", "text": "Age-related macular degeneration 12" }, { - "baseId": "980452", + "upstreamId": "980452", "text": "Diabetes mellitus, insulin-dependent, 22" }, { - "baseId": "980480", + "upstreamId": "980480", "text": "Systemic lupus erythematosus 6" }, { - "baseId": "980516|980517|980518|980519", + "upstreamId": "980516|980517|980518|980519", "text": "FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5" }, { - "baseId": "980520", + "upstreamId": "980520", "text": "AMYOTROPHIC LATERAL SCLEROSIS 26 WITH FRONTOTEMPORAL DEMENTIA" }, { - "baseId": "980521", + "upstreamId": "980521", "text": "AMYOTROPHIC LATERAL SCLEROSIS 26 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA" }, { - "baseId": "980522", + "upstreamId": "980522", "text": "FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 8" }, { - "baseId": "980588", + "upstreamId": "980588", "text": "multilineage dysplasia" }, { - "baseId": "980590", + "upstreamId": "980590", "text": "Generalized cerebral atrophy/hypoplasia" }, { - "baseId": "980704", + "upstreamId": "980704", "text": "Trigonocephaly" }, { - "baseId": "980829|980830", + "upstreamId": "980829|980830", "text": "HEATR5B-associated Pontocerebellar hypoplasia" }, { - "baseId": "980858", + "upstreamId": "980858", "text": "Familial congenital diaphragmatic hernia" }, { - "baseId": "983490|983491|983492|983493|983494|983495", + "upstreamId": "983490|983491|983492|983493|983494|983495", "text": "LESSEL-KREIENKAMP SYNDROME" }, { - "baseId": "983542|983543", + "upstreamId": "983542|983543", "text": "NEPHROTIC SYNDROME, TYPE 22" }, { - "baseId": "983544|983545|983546|983547|983548", + "upstreamId": "983544|983545|983546|983547|983548", "text": "NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY" }, { - "baseId": "983683", + "upstreamId": "983683", "text": "Increased nuchal translucency" }, { - "baseId": "983745", + "upstreamId": "983745", "text": "Disorder of sex development" }, { - "baseId": "983750", + "upstreamId": "983750", "text": "DEAFNESS, AUTOSOMAL RECESSIVE 117" }, { - "baseId": "983807|983817", + "upstreamId": "983807|983817", "text": "Bilateral renal agenesis" }, { - "baseId": "983835|983836", + "upstreamId": "983835|983836", "text": "OOCYTE MATURATION DEFECT 10" }, { - "baseId": "983855", + "upstreamId": "983855", "text": "2-3 finger syndactyly" }, { - "baseId": "984036|984037|984038|984039|984040", + "upstreamId": "984036|984037|984038|984039|984040", "text": "MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED" }, { - "baseId": "984257|984258|984259|984260|984261|984262", + "upstreamId": "984257|984258|984259|984260|984261|984262", "text": "IMMUNODEFICIENCY 76" } ] From f00c59f9d18fba5b0520360d747905b0624155fb Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Thu, 25 Feb 2021 16:26:43 +0800 Subject: [PATCH 23/72] Made numberOfReviewsRequired a project property. --- .../curation/constants/CurationConstants.java | 2 -- .../spot/ontotools/curation/domain/Project.java | 2 ++ .../curation/domain/mapping/Mapping.java | 5 ++--- .../rest/assembler/ProjectDtoAssembler.java | 3 +++ .../controller/MappingReviewsController.java | 5 ++++- .../curation/rest/dto/ProjectCreationDto.java | 11 ++++++++++- .../ontotools/curation/rest/dto/ProjectDto.java | 9 +++++++++ .../curation/service/MappingService.java | 2 +- .../service/impl/MappingServiceImpl.java | 4 ++-- .../service/impl/ProjectServiceImpl.java | 1 + .../spot/ontotools/curation/DataImportTest.java | 2 +- .../ontotools/curation/EntityControllerTest.java | 2 +- .../spot/ontotools/curation/IntegrationTest.java | 4 ++-- .../curation/MappingCommentsControllerTest.java | 2 +- .../curation/MappingReviewsControllerTest.java | 4 ++-- .../curation/MappingsControllerTest.java | 2 +- .../spot/ontotools/curation/MatchMakingTest.java | 2 +- .../curation/OntologyTermControllerTest.java | 2 +- .../curation/ProjectsControllerTest.java | 16 +++++++++------- .../curation/SourcesControllerTest.java | 2 +- .../ontotools/curation/UsersControllerTest.java | 10 +++++----- 21 files changed, 59 insertions(+), 33 deletions(-) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java index 738f8b7..ab156fd 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java @@ -26,6 +26,4 @@ public class CurationConstants { public static final String ZOOMA_CONFIDENCE_HIGH = "HIGH"; - public static final int NO_REVIEWS_REQUIRED = 3; - } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Project.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Project.java index fbc2a33..01a8244 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Project.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Project.java @@ -49,5 +49,7 @@ public class Project { */ private List preferredMappingOntologies; + private Integer numberOfReviewsRequired; + private Provenance created; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java index 9fe958b..fb77f56 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java @@ -10,7 +10,6 @@ import org.springframework.data.mongodb.core.index.CompoundIndexes; import org.springframework.data.mongodb.core.index.Indexed; import org.springframework.data.mongodb.core.mapping.Document; -import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.Review; @@ -52,12 +51,12 @@ public class Mapping { @Transient private OntologyTerm ontologyTerm; - public void addReview(Review review) { + public void addReview(Review review, int noReviewsRequired) { if (reviews == null) { reviews = new ArrayList<>(); } this.reviews.add(review); - if (this.reviews.size() >= CurationConstants.NO_REVIEWS_REQUIRED) { + if (this.reviews.size() >= noReviewsRequired) { this.reviewed = true; this.status = MappingStatus.REQUIRED_REVIEWS_REACHED.name(); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java index d62c4f3..1f039b6 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java @@ -17,6 +17,7 @@ public static ProjectDto assemble(Project project) { project.getDatasources() != null ? project.getDatasources().stream().map(ProjectMappingConfigDtoAssembler::assemble).collect(Collectors.toList()) : new ArrayList<>(), project.getOntologies() != null ? project.getOntologies().stream().map(ProjectMappingConfigDtoAssembler::assemble).collect(Collectors.toList()) : new ArrayList<>(), project.getPreferredMappingOntologies(), + project.getNumberOfReviewsRequired(), ProvenanceDtoAssembler.assemble(project.getCreated())); } @@ -27,6 +28,7 @@ public static Project disassemble(ProjectDto project) { project.getDatasources() != null ? project.getDatasources().stream().map(ProjectMappingConfigDtoAssembler::disassemble).collect(Collectors.toList()) : new ArrayList<>(), project.getOntologies() != null ? project.getOntologies().stream().map(ProjectMappingConfigDtoAssembler::disassemble).collect(Collectors.toList()) : new ArrayList<>(), project.getPreferredMappingOntologies(), + project.getNumberOfReviewsRequired(), ProvenanceDtoAssembler.disassemble(project.getCreated())); } @@ -37,6 +39,7 @@ public static Project disassemble(ProjectCreationDto project, Provenance provena project.getDatasources() != null ? project.getDatasources().stream().map(ProjectMappingConfigDtoAssembler::disassemble).collect(Collectors.toList()) : new ArrayList<>(), project.getOntologies() != null ? project.getOntologies().stream().map(ProjectMappingConfigDtoAssembler::disassemble).collect(Collectors.toList()) : new ArrayList<>(), project.getPreferredMappingOntologies(), + project.getNumberOfReviewsRequired(), provenance); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingReviewsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingReviewsController.java index e689930..4d039df 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingReviewsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingReviewsController.java @@ -9,6 +9,7 @@ import org.springframework.web.bind.annotation.*; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; @@ -53,8 +54,10 @@ public ReviewDto createReview(@PathVariable String projectId, @PathVariable Stri log.info("[{}] Request to create review on mapping: {} | {}", user.getEmail(), projectId, mappingId); projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR})); + Project project = projectService.retrieveProject(projectId, user); Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); - Mapping mapping = mappingService.addReviewToMapping(mappingId, comment, provenance); + Mapping mapping = mappingService.addReviewToMapping(mappingId, comment, + project.getNumberOfReviewsRequired() == null ? 0 : project.getNumberOfReviewsRequired(), provenance); return ReviewDtoAssembler.assemble(mapping.getReviews().get(mapping.getReviews().size() - 1)); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectCreationDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectCreationDto.java index c13ca76..59a853c 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectCreationDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectCreationDto.java @@ -31,17 +31,22 @@ public final class ProjectCreationDto implements Serializable { @JsonProperty("preferredMappingOntologies") private final List preferredMappingOntologies; + @JsonProperty("numberOfReviewsRequired") + private final Integer numberOfReviewsRequired; + @JsonCreator public ProjectCreationDto(@JsonProperty("name") String name, @JsonProperty("description") String description, @JsonProperty("datasources") List datasources, @JsonProperty("ontologies") List ontologies, - @JsonProperty("preferredMappingOntologies") List preferredMappingOntologies) { + @JsonProperty("preferredMappingOntologies") List preferredMappingOntologies, + @JsonProperty("numberOfReviewsRequired") Integer numberOfReviewsRequired) { this.name = name; this.description = description; this.datasources = datasources; this.ontologies = ontologies; this.preferredMappingOntologies = preferredMappingOntologies; + this.numberOfReviewsRequired = numberOfReviewsRequired; } public String getName() { @@ -63,4 +68,8 @@ public List getOntologies() { public List getPreferredMappingOntologies() { return preferredMappingOntologies; } + + public Integer getNumberOfReviewsRequired() { + return numberOfReviewsRequired; + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDto.java index edb7381..c438553 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDto.java @@ -35,6 +35,9 @@ public final class ProjectDto implements Serializable { @JsonProperty("preferredMappingOntologies") private final List preferredMappingOntologies; + @JsonProperty("numberOfReviewsRequired") + private final Integer numberOfReviewsRequired; + @JsonProperty("created") private final ProvenanceDto created; @@ -45,6 +48,7 @@ public ProjectDto(@JsonProperty("id") String id, @JsonProperty("datasources") List datasources, @JsonProperty("ontologies") List ontologies, @JsonProperty("preferredMappingOntologies") List preferredMappingOntologies, + @JsonProperty("numberOfReviewsRequired") Integer numberOfReviewsRequired, @JsonProperty("created") ProvenanceDto created) { this.id = id; this.name = name; @@ -52,6 +56,7 @@ public ProjectDto(@JsonProperty("id") String id, this.datasources = datasources; this.ontologies = ontologies; this.preferredMappingOntologies = preferredMappingOntologies; + this.numberOfReviewsRequired = numberOfReviewsRequired; this.created = created; } @@ -79,6 +84,10 @@ public List getPreferredMappingOntologies() { return preferredMappingOntologies; } + public Integer getNumberOfReviewsRequired() { + return numberOfReviewsRequired; + } + public ProvenanceDto getCreated() { return created; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java index e809c1f..1b0e207 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java @@ -18,7 +18,7 @@ public interface MappingService { List deleteMappingExcluding(Entity entity, String ontologyTermId); - Mapping addReviewToMapping(String mappingId, String comment, Provenance provenance); + Mapping addReviewToMapping(String mappingId, String comment, int noReviewsRequired, Provenance provenance); Mapping retrieveMappingById(String mappingId); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java index b2f815c..5177d1e 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java @@ -104,7 +104,7 @@ public List deleteMappingExcluding(Entity entity, String ontologyTermId) } @Override - public Mapping addReviewToMapping(String mappingId, String comment, Provenance provenance) { + public Mapping addReviewToMapping(String mappingId, String comment, int noReviewsRequired, Provenance provenance) { log.info("Adding review to mapping: {}", mappingId); Optional mappingOp = mappingRepository.findById(mappingId); if (!mappingOp.isPresent()) { @@ -113,7 +113,7 @@ public Mapping addReviewToMapping(String mappingId, String comment, Provenance p } Mapping mapping = mappingOp.get(); mapping.setStatus(MappingStatus.REVIEW_IN_PROGRESS.name()); - mapping.addReview(new Review(comment, provenance)); + mapping.addReview(new Review(comment, provenance), noReviewsRequired); mapping = mappingRepository.save(mapping); return mapping; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java index 03afaa2..9ddb371 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java @@ -58,6 +58,7 @@ public Project updateProject(Project project, String projectId, User user) { existing.setOntologies(project.getOntologies() != null ? project.getOntologies() : new ArrayList<>()); existing.setName(project.getName()); existing.setDescription(project.getDescription()); + existing.setNumberOfReviewsRequired(project.getNumberOfReviewsRequired()); return projectRepository.save(existing); } else { log.error("User [{}] cannot change project [{}]. Required access is missing.", user.getEmail(), projectId); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/DataImportTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/DataImportTest.java index dc8d0fa..f3ced04 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/DataImportTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/DataImportTest.java @@ -40,7 +40,7 @@ public class DataImportTest extends IntegrationTest { @Override public void setup() throws Exception { super.setup(); - projectDto = super.createProject("New Project", "token1", null, null, null); + projectDto = super.createProject("New Project", "token1", null, null, null, 0); sourceDto = super.createSource(projectDto.getId()); doNothing().when(matchmakerService).runMatchmaking(eq(sourceDto.getId()), any()); } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java index 94680a4..8e44259 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java @@ -41,7 +41,7 @@ public void setup() throws Exception { super.setup(); List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); - ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo"); + ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo", 0); user1 = userService.findByEmail(user1.getEmail()); project = projectService.retrieveProject(projectDto.getId(), user1); sourceDto = super.createSource(project.getId()); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index 6b08fe8..6f43355 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -120,14 +120,14 @@ public void setup() throws Exception { protected ProjectDto createProject(String name, String token, List datasources, List ontologies, - String preferredMappingOntology) throws Exception { + String preferredMappingOntology, int noReviewsRequired) throws Exception { String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS; ProjectCreationDto projectCreationDto = new ProjectCreationDto(name, "Description", datasources != null ? Arrays.asList(new ProjectMappingConfigDto[]{new ProjectMappingConfigDto("ALL", datasources)}) : new ArrayList<>(), ontologies != null ? Arrays.asList(new ProjectMappingConfigDto[]{new ProjectMappingConfigDto("ALL", ontologies)}) : new ArrayList<>(), - preferredMappingOntology != null ? Arrays.asList(new String[]{preferredMappingOntology}) : new ArrayList<>()); + preferredMappingOntology != null ? Arrays.asList(new String[]{preferredMappingOntology}) : new ArrayList<>(), noReviewsRequired); String response = mockMvc.perform(post(endpoint) .contentType(MediaType.APPLICATION_JSON) diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingCommentsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingCommentsControllerTest.java index 9369d44..e81007c 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingCommentsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingCommentsControllerTest.java @@ -49,7 +49,7 @@ public void setup() throws Exception { super.setup(); List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); - ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo"); + ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo", 0); user1 = userService.findByEmail(user1.getEmail()); project = projectService.retrieveProject(projectDto.getId(), user1); sourceDto = super.createSource(project.getId()); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java index 470e8f2..eab0332 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java @@ -50,7 +50,7 @@ public void setup() throws Exception { super.setup(); List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); - ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo"); + ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo", 3); user1 = userService.findByEmail(user1.getEmail()); project = projectService.retrieveProject(projectDto.getId(), user1); sourceDto = super.createSource(project.getId()); @@ -121,7 +121,7 @@ public void shouldCreateReviewedMapping() throws Exception { public void shouldGetReviews() throws Exception { EntityDto actual = super.retrieveEntity(project.getId()); MappingDto mappingDto = actual.getMappings().get(0); - mappingService.addReviewToMapping(mappingDto.getId(), "New review", ProvenanceDtoAssembler.disassemble(mappingDto.getCreated())); + mappingService.addReviewToMapping(mappingDto.getId(), "New review", 3, ProvenanceDtoAssembler.disassemble(mappingDto.getCreated())); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId() + CurationConstants.API_REVIEWS; diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java index bfb6c92..2432003 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java @@ -46,7 +46,7 @@ public void setup() throws Exception { super.setup(); List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); - ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo"); + ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo", 0); user1 = userService.findByEmail(user1.getEmail()); project = projectService.retrieveProject(projectDto.getId(), user1); sourceDto = super.createSource(project.getId()); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java index e647ba5..5bcbc60 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java @@ -70,7 +70,7 @@ public void setup() throws Exception { List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); - ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo"); + ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo", 0); user1 = userService.findByEmail(user1.getEmail()); project = projectService.retrieveProject(projectDto.getId(), user1); sourceDto = super.createSource(project.getId()); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntologyTermControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntologyTermControllerTest.java index acd6b38..f9fa42a 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntologyTermControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntologyTermControllerTest.java @@ -39,7 +39,7 @@ public void setup() throws Exception { List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); - ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo"); + ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo", 0); user1 = userService.findByEmail(user1.getEmail()); project = projectService.retrieveProject(projectDto.getId(), user1); } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java index cd7d2bf..3773772 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java @@ -23,7 +23,7 @@ public class ProjectsControllerTest extends IntegrationTest { */ @Test public void shouldCreateProject() throws Exception { - super.createProject("New Project", "token1", null, null, null); + super.createProject("New Project", "token1", null, null, null, 0); } /** @@ -31,8 +31,8 @@ public void shouldCreateProject() throws Exception { */ @Test public void shouldGetProjects() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null); - super.createProject("New Project 2", "token2", null, null, null); + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + super.createProject("New Project 2", "token2", null, null, null, 0); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS; String response = mockMvc.perform(get(endpoint) @@ -57,7 +57,7 @@ public void shouldGetProjects() throws Exception { */ @Test public void shouldGetProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null); + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); String response = mockMvc.perform(get(endpoint) .contentType(MediaType.APPLICATION_JSON) @@ -78,13 +78,14 @@ public void shouldGetProject() throws Exception { */ @Test public void shouldUpdateProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null); + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); ProjectDto updatedProject = new ProjectDto(projectDto.getId(), "New Name", projectDto.getDescription(), Arrays.asList(new ProjectMappingConfigDto[]{new ProjectMappingConfigDto("ALL", Arrays.asList(new String[]{"gwas"}))}), Arrays.asList(new ProjectMappingConfigDto[]{new ProjectMappingConfigDto("ALL", Arrays.asList(new String[]{"ordo"}))}), projectDto.getPreferredMappingOntologies(), + 0, projectDto.getCreated()); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); @@ -110,13 +111,14 @@ public void shouldUpdateProject() throws Exception { */ @Test public void shouldNotUpdateProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null); + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); ProjectDto updatedProject = new ProjectDto(projectDto.getId(), "New Name", projectDto.getDescription(), Arrays.asList(new ProjectMappingConfigDto[]{new ProjectMappingConfigDto("ALL", Arrays.asList(new String[]{"gwas"}))}), Arrays.asList(new ProjectMappingConfigDto[]{new ProjectMappingConfigDto("ALL", Arrays.asList(new String[]{"ordo"}))}), projectDto.getPreferredMappingOntologies(), + 0, projectDto.getCreated()); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); @@ -132,7 +134,7 @@ public void shouldNotUpdateProject() throws Exception { */ @Test public void shouldDeleteProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null); + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); mockMvc.perform(delete(endpoint) .header(IDPConstants.JWT_TOKEN, "token1")) diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/SourcesControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/SourcesControllerTest.java index 5823417..8d3d13d 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/SourcesControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/SourcesControllerTest.java @@ -22,7 +22,7 @@ public class SourcesControllerTest extends IntegrationTest { @Override public void setup() throws Exception { super.setup(); - projectDto = createProject("New Project", "token1", null, null, null); + projectDto = createProject("New Project", "token1", null, null, null, 0); } /** diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/UsersControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/UsersControllerTest.java index e335b11..b49d8aa 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/UsersControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/UsersControllerTest.java @@ -26,7 +26,7 @@ public class UsersControllerTest extends IntegrationTest { */ @Test public void shouldGetUsersForProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null); + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; String response = mockMvc.perform(get(endpoint) .contentType(MediaType.APPLICATION_JSON) @@ -49,7 +49,7 @@ public void shouldGetUsersForProject() throws Exception { */ @Test public void shouldNotGetUsersForProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null); + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; mockMvc.perform(get(endpoint) .contentType(MediaType.APPLICATION_JSON) @@ -62,7 +62,7 @@ public void shouldNotGetUsersForProject() throws Exception { */ @Test public void shouldAddUserToProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null); + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); mockMvc.perform(get(endpoint) @@ -128,7 +128,7 @@ public void shouldAddUserToProject() throws Exception { */ @Test public void shouldUpdateUserToProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null); + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); @@ -174,7 +174,7 @@ public void shouldUpdateUserToProject() throws Exception { */ @Test public void shouldDeleteUserRolesInProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null); + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); From 25fc1e7f435d3cd9a691e75ea70b054ed58e30eb Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Thu, 25 Feb 2021 22:29:08 +0800 Subject: [PATCH 24/72] Added public export endpoint. --- .../curation/config/AuthInterceptor.java | 6 + .../config/ExceptionHandlerAdvice.java | 8 + .../curation/constants/CurationConstants.java | 4 + .../constants/ProjectExportRequestStatus.java | 10 + .../curation/domain/ProjectExportRequest.java | 31 ++++ .../exception/FileProcessingException.java | 8 + .../curation/repository/EntityRepository.java | 2 + .../ProjectExportRequestRepository.java | 12 ++ .../rest/controller/PublicDataController.java | 65 +++++++ .../rest/dto/ProjectExportStatusDto.java | 39 ++++ .../rest/dto/export/ExportEntityDto.java | 64 +++++++ .../rest/dto/export/ExportMappingDto.java | 59 ++++++ .../export/ExportMappingSuggestionDto.java | 41 +++++ .../curation/service/EntityService.java | 2 + .../service/ExportExecutorService.java | 7 + .../service/ExportFileStorageService.java | 10 + .../service/ProjectExportService.java | 11 ++ .../service/impl/EntityDataCollector.java | 74 ++++++++ .../service/impl/EntityServiceImpl.java | 5 + .../impl/ExportExecutorServiceImpl.java | 136 ++++++++++++++ .../impl/ExportFileStorageServiceImpl.java | 95 ++++++++++ .../impl/ProjectExportServiceImpl.java | 88 +++++++++ .../curation/system/GeneralCommon.java | 2 + .../system/SystemConfigProperties.java | 7 + src/main/resources/application.yml | 1 + .../ontotools/curation/IntegrationTest.java | 6 + .../curation/PublicDataControllerTest.java | 171 ++++++++++++++++++ .../rest/dto/ProjectExportStatusDtoTest.java | 14 ++ .../rest/dto/export/ExportEntityDtoTest.java | 14 ++ .../rest/dto/export/ExportMappingDtoTest.java | 14 ++ .../ExportMappingSuggestionDtoTest.java | 15 ++ .../rest/dto/mapping/CommentDtoTest.java | 14 ++ 32 files changed, 1035 insertions(+) create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/ProjectExportRequestStatus.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ProjectExportRequest.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/exception/FileProcessingException.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ProjectExportRequestRepository.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/PublicDataController.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectExportStatusDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportEntityDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportMappingDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportMappingSuggestionDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ExportExecutorService.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ExportFileStorageService.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectExportService.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityDataCollector.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ExportExecutorServiceImpl.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ExportFileStorageServiceImpl.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectExportServiceImpl.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/PublicDataControllerTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectExportStatusDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportEntityDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportMappingDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportMappingSuggestionDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/CommentDtoTest.java diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/AuthInterceptor.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/AuthInterceptor.java index 3966870..0a1a34a 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/AuthInterceptor.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/AuthInterceptor.java @@ -43,6 +43,12 @@ public boolean preHandle(HttpServletRequest httpServletRequest, return true; } + String requestedURI = httpServletRequest.getRequestURI(); + if (systemConfigProperties.getUnauthenticatedEndpointsPrefix() != null && requestedURI.startsWith(systemConfigProperties.getUnauthenticatedEndpointsPrefix())) { + log.info("Received call on unauthenticated endpoint: {}", requestedURI); + return true; + } + String jwt = HeadersUtil.extractJWT(httpServletRequest); if (jwt == null) { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/ExceptionHandlerAdvice.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/ExceptionHandlerAdvice.java index 3dd1d72..d1d41bc 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/ExceptionHandlerAdvice.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/ExceptionHandlerAdvice.java @@ -6,10 +6,12 @@ import org.springframework.http.ResponseEntity; import org.springframework.web.bind.annotation.ControllerAdvice; import org.springframework.web.bind.annotation.ExceptionHandler; +import org.springframework.web.bind.annotation.ResponseStatus; import org.springframework.web.bind.annotation.RestController; import uk.ac.ebi.spot.ontotools.curation.exception.AuthenticationException; import uk.ac.ebi.spot.ontotools.curation.exception.AuthorizationException; import uk.ac.ebi.spot.ontotools.curation.exception.EntityNotFoundException; +import uk.ac.ebi.spot.ontotools.curation.exception.FileProcessingException; @ControllerAdvice(annotations = RestController.class) public class ExceptionHandlerAdvice { @@ -34,4 +36,10 @@ public ResponseEntity handleAuthorizationException(EntityNotFoundExcepti headers.setContentType(MediaType.TEXT_PLAIN); return new ResponseEntity<>(e.getMessage(), headers, HttpStatus.NOT_FOUND); } + + @ExceptionHandler(FileProcessingException.class) + @ResponseStatus(HttpStatus.INTERNAL_SERVER_ERROR) + public void handleFileProcessingException() { + } + } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java index ab156fd..3dbc5c8 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java @@ -12,6 +12,10 @@ public class CurationConstants { public static final String API_MAPPINGS = "/mappings"; + public static final String API_EXPORT = "/export"; + + public static final String API_DOWNLOAD = "/download"; + public static final String API_ENTITIES = "/entities"; public static final String API_ONTOLOGY_TERMS = "/ontology-terms"; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/ProjectExportRequestStatus.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/ProjectExportRequestStatus.java new file mode 100644 index 0000000..8aabcf9 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/ProjectExportRequestStatus.java @@ -0,0 +1,10 @@ +package uk.ac.ebi.spot.ontotools.curation.constants; + +public enum ProjectExportRequestStatus { + + REQUESTED, + IN_PROGRESS, + FINALIZED, + FAILED + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ProjectExportRequest.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ProjectExportRequest.java new file mode 100644 index 0000000..b8ce3bf --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ProjectExportRequest.java @@ -0,0 +1,31 @@ +package uk.ac.ebi.spot.ontotools.curation.domain; + +import lombok.AllArgsConstructor; +import lombok.Getter; +import lombok.NoArgsConstructor; +import lombok.Setter; +import org.springframework.data.annotation.Id; +import org.springframework.data.mongodb.core.index.Indexed; +import org.springframework.data.mongodb.core.mapping.Document; + +@Document(collection = "projectExportRequests") +@NoArgsConstructor +@AllArgsConstructor +@Getter +@Setter +public class ProjectExportRequest { + + @Id + private String id; + + @Indexed + private String projectId; + + @Indexed + private String requestId; + + @Indexed + private String status; + + private String fileId; +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/exception/FileProcessingException.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/exception/FileProcessingException.java new file mode 100644 index 0000000..fc7a01d --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/exception/FileProcessingException.java @@ -0,0 +1,8 @@ +package uk.ac.ebi.spot.ontotools.curation.exception; + +public class FileProcessingException extends RuntimeException { + public FileProcessingException(String message) { + super(message); + } + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java index 27924db..66c0165 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java @@ -12,4 +12,6 @@ public interface EntityRepository extends MongoRepository { Stream readBySourceId(String sourceId); Page findByProjectId(String projectId, Pageable page); + + Stream readByProjectId(String projectId); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ProjectExportRequestRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ProjectExportRequestRepository.java new file mode 100644 index 0000000..bf8a001 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ProjectExportRequestRepository.java @@ -0,0 +1,12 @@ +package uk.ac.ebi.spot.ontotools.curation.repository; + +import org.springframework.data.mongodb.repository.MongoRepository; +import uk.ac.ebi.spot.ontotools.curation.domain.ProjectExportRequest; + +import java.util.Optional; + +public interface ProjectExportRequestRepository extends MongoRepository { + + Optional findByRequestId(String requestId); + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/PublicDataController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/PublicDataController.java new file mode 100644 index 0000000..6f78587 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/PublicDataController.java @@ -0,0 +1,65 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.controller; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.http.HttpEntity; +import org.springframework.http.HttpHeaders; +import org.springframework.http.HttpStatus; +import org.springframework.http.MediaType; +import org.springframework.web.bind.annotation.*; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.domain.ProjectExportRequest; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectExportStatusDto; +import uk.ac.ebi.spot.ontotools.curation.service.ProjectExportService; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; + +@RestController +@RequestMapping(value = GeneralCommon.API_PUBLIC + GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) +public class PublicDataController { + + private static final Logger log = LoggerFactory.getLogger(PublicDataController.class); + + @Autowired + private ProjectExportService projectExportService; + + /** + * POST /v1/projects/{projectId}/export + */ + @PostMapping(value = "/{projectId}" + CurationConstants.API_EXPORT, + produces = MediaType.TEXT_PLAIN_VALUE) + @ResponseStatus(HttpStatus.CREATED) + public String registerExportRequest(@PathVariable String projectId) { + log.info("[{}] Request to run export.", projectId); + return projectExportService.registerRequest(projectId); + } + + /** + * GET /v1/projects/{projectId}/export/{requestId} + */ + @GetMapping(value = "/{projectId}" + CurationConstants.API_EXPORT + "/{requestId}", + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.OK) + public ProjectExportStatusDto getExportRequestStatus(@PathVariable String projectId, @PathVariable String requestId) { + log.info("[{}] Request to retrieve export status: {}", projectId, requestId); + ProjectExportRequest projectExportRequest = projectExportService.getExportStatus(projectId, requestId); + return new ProjectExportStatusDto(projectExportRequest.getRequestId(), projectExportRequest.getStatus()); + } + + /** + * GET /v1/projects/{projectId}/export/{requestId}/download + */ + @GetMapping(value = "/{projectId}" + CurationConstants.API_EXPORT + "/{requestId}" + CurationConstants.API_DOWNLOAD, + produces = MediaType.APPLICATION_OCTET_STREAM_VALUE) + @ResponseStatus(HttpStatus.OK) + public HttpEntity downloadExport(@PathVariable String projectId, @PathVariable String requestId) { + log.info("[{}] Request to download export: {}", projectId, requestId); + + byte[] payload = projectExportService.getExportContent(projectId, requestId); + HttpHeaders responseHeaders = new HttpHeaders(); + responseHeaders.add(HttpHeaders.CONTENT_DISPOSITION, "attachment; filename=" + projectId + ".zip"); + responseHeaders.add(HttpHeaders.CONTENT_TYPE, MediaType.APPLICATION_OCTET_STREAM_VALUE); + responseHeaders.add(HttpHeaders.CONTENT_LENGTH, Integer.toString(payload.length)); + return new HttpEntity<>(payload, responseHeaders); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectExportStatusDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectExportStatusDto.java new file mode 100644 index 0000000..e4a5bcb --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectExportStatusDto.java @@ -0,0 +1,39 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import javax.validation.constraints.NotEmpty; +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class ProjectExportStatusDto implements Serializable { + + private static final long serialVersionUID = -6467334898778590695L; + + @NotEmpty + @JsonProperty("requestId") + private final String requestId; + + @NotEmpty + @JsonProperty("status") + private final String status; + + @JsonCreator + public ProjectExportStatusDto(@JsonProperty("requestId") String requestId, + @JsonProperty("status") String status) { + this.requestId = requestId; + this.status = status; + } + + public String getRequestId() { + return requestId; + } + + public String getStatus() { + return status; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportEntityDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportEntityDto.java new file mode 100644 index 0000000..0c0978f --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportEntityDto.java @@ -0,0 +1,64 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.export; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import java.io.Serializable; +import java.util.List; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class ExportEntityDto implements Serializable { + + private static final long serialVersionUID = 1657559863177266372L; + + @JsonProperty("name") + private final String name; + + @JsonProperty("baseId") + private final String baseId; + + @JsonProperty("baseField") + private final String baseField; + + @JsonProperty("mappingSuggestions") + private final List mappingSuggestions; + + @JsonProperty("mappings") + private final List mappings; + + @JsonCreator + public ExportEntityDto(@JsonProperty("name") String name, + @JsonProperty("baseId") String baseId, + @JsonProperty("baseField") String baseField, + @JsonProperty("mappingSuggestions") List mappingSuggestions, + @JsonProperty("mappings") List mappings) { + this.name = name; + this.baseId = baseId; + this.baseField = baseField; + this.mappingSuggestions = mappingSuggestions; + this.mappings = mappings; + } + + public String getName() { + return name; + } + + public String getBaseId() { + return baseId; + } + + public String getBaseField() { + return baseField; + } + + public List getMappingSuggestions() { + return mappingSuggestions; + } + + public List getMappings() { + return mappings; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportMappingDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportMappingDto.java new file mode 100644 index 0000000..b3c655b --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportMappingDto.java @@ -0,0 +1,59 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.export; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProvenanceDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.OntologyTermDto; + +import javax.validation.constraints.NotNull; +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class ExportMappingDto implements Serializable { + + private static final long serialVersionUID = -6638221277434507289L; + + @NotNull + @JsonProperty("ontologyTerm") + private final OntologyTermDto ontologyTerm; + + @JsonProperty("reviewed") + private final boolean reviewed; + + @JsonProperty("status") + private final String status; + + @NotNull + @JsonProperty("created") + private final ProvenanceDto created; + + @JsonCreator + public ExportMappingDto(@JsonProperty("ontologyTerm") OntologyTermDto ontologyTerm, + @JsonProperty("reviewed") boolean reviewed, + @JsonProperty("status") String status, + @JsonProperty("created") ProvenanceDto created) { + this.ontologyTerm = ontologyTerm; + this.reviewed = reviewed; + this.status = status; + this.created = created; + } + + public OntologyTermDto getOntologyTerm() { + return ontologyTerm; + } + + public boolean isReviewed() { + return reviewed; + } + + public String getStatus() { + return status; + } + + public ProvenanceDto getCreated() { + return created; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportMappingSuggestionDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportMappingSuggestionDto.java new file mode 100644 index 0000000..c1207aa --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportMappingSuggestionDto.java @@ -0,0 +1,41 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.export; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProvenanceDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.OntologyTermDto; + +import javax.validation.constraints.NotNull; +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class ExportMappingSuggestionDto implements Serializable { + + private static final long serialVersionUID = 3552462400615112894L; + + @NotNull + @JsonProperty("ontologyTerm") + private final OntologyTermDto ontologyTerm; + + @NotNull + @JsonProperty("created") + private final ProvenanceDto created; + + @JsonCreator + public ExportMappingSuggestionDto(@JsonProperty("ontologyTerm") OntologyTermDto ontologyTerm, + @JsonProperty("created") ProvenanceDto created) { + this.ontologyTerm = ontologyTerm; + this.created = created; + } + + public OntologyTermDto getOntologyTerm() { + return ontologyTerm; + } + + public ProvenanceDto getCreated() { + return created; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java index b32f261..6c1f0ab 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java @@ -15,6 +15,8 @@ public interface EntityService { Stream retrieveEntitiesForSource(String sourceId); + Stream streamEntitiesForProject(String projectId); + Entity updateMappingStatus(Entity entity, EntityStatus mappingStatus); Page retrieveEntitiesForProject(String projectId, Pageable page); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ExportExecutorService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ExportExecutorService.java new file mode 100644 index 0000000..b0e98e3 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ExportExecutorService.java @@ -0,0 +1,7 @@ +package uk.ac.ebi.spot.ontotools.curation.service; + +import uk.ac.ebi.spot.ontotools.curation.domain.ProjectExportRequest; + +public interface ExportExecutorService { + void addToQueue(ProjectExportRequest projectExportRequest); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ExportFileStorageService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ExportFileStorageService.java new file mode 100644 index 0000000..baed2be --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ExportFileStorageService.java @@ -0,0 +1,10 @@ +package uk.ac.ebi.spot.ontotools.curation.service; + +import java.io.InputStream; + +public interface ExportFileStorageService { + + String storeFile(InputStream is, String fileName); + + byte[] retrieveFileContent(String fileId); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectExportService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectExportService.java new file mode 100644 index 0000000..8ee574e --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectExportService.java @@ -0,0 +1,11 @@ +package uk.ac.ebi.spot.ontotools.curation.service; + +import uk.ac.ebi.spot.ontotools.curation.domain.ProjectExportRequest; + +public interface ProjectExportService { + String registerRequest(String projectId); + + ProjectExportRequest getExportStatus(String projectId, String requestId); + + byte[] getExportContent(String projectId, String requestId); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityDataCollector.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityDataCollector.java new file mode 100644 index 0000000..00e4680 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityDataCollector.java @@ -0,0 +1,74 @@ +package uk.ac.ebi.spot.ontotools.curation.service.impl; + +import com.fasterxml.jackson.databind.ObjectMapper; +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.MappingSuggestion; +import uk.ac.ebi.spot.ontotools.curation.rest.assembler.OntologyTermDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.assembler.ProvenanceDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.export.ExportEntityDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.export.ExportMappingDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.export.ExportMappingSuggestionDto; + +import java.io.ByteArrayOutputStream; +import java.io.IOException; +import java.util.ArrayList; +import java.util.List; +import java.util.zip.ZipEntry; +import java.util.zip.ZipOutputStream; + +public class EntityDataCollector { + + private static final Logger log = LoggerFactory.getLogger(EntityDataCollector.class); + + private String projectId; + + private List exportEntityDtos; + + public EntityDataCollector(String projectId) { + this.projectId = projectId; + this.exportEntityDtos = new ArrayList<>(); + } + + public void add(Entity entity, List mappingList, List mappingSuggestionList) { + List mappingSuggestions = new ArrayList<>(); + List mappings = new ArrayList<>(); + + if (mappingList != null) { + for (Mapping mapping : mappingList) { + mappings.add(new ExportMappingDto(OntologyTermDtoAssembler.assemble(mapping.getOntologyTerm()), mapping.isReviewed(), + mapping.getStatus(), ProvenanceDtoAssembler.assemble(mapping.getCreated()))); + } + } + if (mappingSuggestionList != null) { + for (MappingSuggestion mappingSuggestion : mappingSuggestionList) { + mappingSuggestions.add(new ExportMappingSuggestionDto(OntologyTermDtoAssembler.assemble(mappingSuggestion.getOntologyTerm()), + ProvenanceDtoAssembler.assemble(mappingSuggestion.getCreated()))); + } + } + + exportEntityDtos.add(new ExportEntityDto(entity.getName(), + entity.getBaseId(), + entity.getBaseField(), + mappingSuggestions, + mappings + )); + } + + public ByteArrayOutputStream serialize() { + ObjectMapper objectMapper = new ObjectMapper(); + ByteArrayOutputStream baos = new ByteArrayOutputStream(); + try (ZipOutputStream zos = new ZipOutputStream(baos)) { + ZipEntry entry = new ZipEntry(projectId + ".json"); + zos.putNextEntry(entry); + zos.write(objectMapper.writeValueAsString(exportEntityDtos).getBytes()); + zos.closeEntry(); + } catch (IOException e) { + log.error("[{}] Error encountered when creating file: {}", projectId, e.getMessage(), e); + return null; + } + return baos; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java index 6851a53..66a07cb 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java @@ -36,6 +36,11 @@ public Stream retrieveEntitiesForSource(String sourceId) { return entityRepository.readBySourceId(sourceId); } + @Override + public Stream streamEntitiesForProject(String projectId) { + return entityRepository.readByProjectId(projectId); + } + @Override public Entity updateMappingStatus(Entity entity, EntityStatus mappingStatus) { log.info("Updating mapping status [{}]: {}", entity.getName(), mappingStatus); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ExportExecutorServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ExportExecutorServiceImpl.java new file mode 100644 index 0000000..87d328c --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ExportExecutorServiceImpl.java @@ -0,0 +1,136 @@ +package uk.ac.ebi.spot.ontotools.curation.service.impl; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.scheduling.annotation.Async; +import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectExportRequestStatus; +import uk.ac.ebi.spot.ontotools.curation.domain.ProjectExportRequest; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.MappingSuggestion; +import uk.ac.ebi.spot.ontotools.curation.repository.ProjectExportRequestRepository; +import uk.ac.ebi.spot.ontotools.curation.service.*; + +import javax.annotation.PostConstruct; +import java.io.ByteArrayInputStream; +import java.io.ByteArrayOutputStream; +import java.util.List; +import java.util.Optional; +import java.util.Queue; +import java.util.concurrent.ConcurrentLinkedQueue; +import java.util.concurrent.SynchronousQueue; +import java.util.stream.Stream; + +@Service +public class ExportExecutorServiceImpl implements ExportExecutorService { + + private static final Logger log = LoggerFactory.getLogger(ExportExecutorService.class); + + @Autowired + private ProjectExportRequestRepository projectExportRequestRepository; + + @Autowired + private ExportFileStorageService exportFileStorageService; + + @Autowired + private EntityService entityService; + + @Autowired + private MappingService mappingService; + + @Autowired + private MappingSuggestionsService mappingSuggestionsService; + + private Queue requestQueue; + + private String currentRequest; + + @PostConstruct + public void initialize() { + this.currentRequest = null; + requestQueue = new ConcurrentLinkedQueue<>(); + List projectExportRequests = projectExportRequestRepository.findAll(); + for (ProjectExportRequest projectExportRequest : projectExportRequests) { + if (!projectExportRequest.getStatus().equalsIgnoreCase(ProjectExportRequestStatus.FINALIZED.name())) { + requestQueue.add(projectExportRequest.getId()); + } + } + this.execute(); + } + + @Override + @Async + public void addToQueue(ProjectExportRequest projectExportRequest) { + log.info("Adding request to queue: {} | {}", projectExportRequest.getProjectId(), projectExportRequest.getRequestId()); + requestQueue.add(projectExportRequest.getId()); + this.execute(); + } + + private void execute() { + if (currentRequest != null) { + return; + } + if (requestQueue.isEmpty()) { + return; + } + + String projectRequestId = requestQueue.remove(); + log.info("Selected next item in the queue: {}", projectRequestId); + Optional projectExportRequestOptional = projectExportRequestRepository.findById(projectRequestId); + if (!projectExportRequestOptional.isPresent()) { + log.error("Project export request [{}] not found!", projectRequestId); + this.execute(); + } else { + currentRequest = projectRequestId; + ProjectExportRequest projectExportRequest = projectExportRequestOptional.get(); + projectExportRequest.setStatus(ProjectExportRequestStatus.IN_PROGRESS.name()); + projectExportRequest = projectExportRequestRepository.save(projectExportRequest); + this.processRequest(projectExportRequest); + currentRequest = null; + this.execute(); + } + } + + private void processRequest(ProjectExportRequest projectExportRequest) { + log.info("Processing export request: {}", projectExportRequest.getId()); + double sTime = System.currentTimeMillis(); + + log.info("Export request [{}] - collecting data ...", projectExportRequest.getId()); + EntityDataCollector entityDataCollector = new EntityDataCollector(projectExportRequest.getProjectId()); + Stream entityStream = entityService.streamEntitiesForProject(projectExportRequest.getProjectId()); + entityStream.forEach(entity -> processEntity(entity, entityDataCollector)); + entityStream.close(); + + log.info("Export request [{}] - saving file ...", projectExportRequest.getId()); + ByteArrayOutputStream baos = entityDataCollector.serialize(); + if (baos == null) { + projectExportRequest.setStatus(ProjectExportRequestStatus.FAILED.name()); + projectExportRequest = projectExportRequestRepository.save(projectExportRequest); + double eTime = System.currentTimeMillis(); + log.info("Export request [{}] failed in: {}", projectExportRequest.getId(), (eTime - sTime) / 1000); + } + + String fileId = exportFileStorageService.storeFile(new ByteArrayInputStream(baos.toByteArray()), projectExportRequest.getProjectId() + ".zip"); + if (fileId == null) { + projectExportRequest.setStatus(ProjectExportRequestStatus.FAILED.name()); + projectExportRequest = projectExportRequestRepository.save(projectExportRequest); + double eTime = System.currentTimeMillis(); + log.info("Export request [{}] failed in: {}", projectExportRequest.getId(), (eTime - sTime) / 1000); + } + + log.info("Export request [{}] - changing status to FINALIZED.", projectExportRequest.getId()); + projectExportRequest.setFileId(fileId); + projectExportRequest.setStatus(ProjectExportRequestStatus.FINALIZED.name()); + projectExportRequest = projectExportRequestRepository.save(projectExportRequest); + double eTime = System.currentTimeMillis(); + log.info("Export request [{}] finalized in: {}", projectExportRequest.getId(), (eTime - sTime) / 1000); + } + + private void processEntity(Entity entity, EntityDataCollector entityDataCollector) { + List mappingList = mappingService.retrieveMappingsForEntity(entity.getId()); + List mappingSuggestions = mappingSuggestionsService.retrieveMappingSuggestionsForEntity(entity.getId()); + entityDataCollector.add(entity, mappingList, mappingSuggestions); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ExportFileStorageServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ExportFileStorageServiceImpl.java new file mode 100644 index 0000000..9dbc351 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ExportFileStorageServiceImpl.java @@ -0,0 +1,95 @@ +package uk.ac.ebi.spot.ontotools.curation.service.impl; + +import com.mongodb.client.gridfs.GridFSBuckets; +import com.mongodb.client.gridfs.GridFSDownloadStream; +import com.mongodb.client.gridfs.model.GridFSFile; +import org.apache.commons.io.IOUtils; +import org.bson.types.ObjectId; +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.data.mongodb.core.MongoTemplate; +import org.springframework.data.mongodb.core.query.Criteria; +import org.springframework.data.mongodb.core.query.Query; +import org.springframework.data.mongodb.gridfs.GridFsOperations; +import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.exception.EntityNotFoundException; +import uk.ac.ebi.spot.ontotools.curation.exception.FileProcessingException; +import uk.ac.ebi.spot.ontotools.curation.service.ExportFileStorageService; + +import java.io.IOException; +import java.io.InputStream; + +@Service +public class ExportFileStorageServiceImpl implements ExportFileStorageService { + + private static final Logger log = LoggerFactory.getLogger(ExportFileStorageService.class); + + @Autowired + private GridFsOperations gridFsOperations; + + @Autowired + private MongoTemplate mongoTemplate; + + @Override + public String storeFile(InputStream is, String fileName) { + log.info("Storing new file: {}", fileName); + try { + ObjectId objectId = is == null ? null : gridFsOperations.store(is, fileName, ""); + log.info("File successfully stored: {}", objectId); + return objectId != null ? objectId.toString() : null; + } catch (Exception e) { + log.error("Encountered exception when saving file [{}]: {}", fileName, e.getMessage(), e); + return null; + } + } + + @Override + public byte[] retrieveFileContent(String fileId) { + log.info("Retrieving file content: {}", fileId); + GridFSFile file = getGridFsdbFileForFileId(fileId); + byte[] attachmentByteArray; + + try (InputStream inputStream = getFileDownloadStream(file.getObjectId())) { + attachmentByteArray = IOUtils.toByteArray(inputStream); + } catch (IOException e) { + log.error("Unable to get file {}: {}", fileId, e.getMessage(), e); + throw new FileProcessingException("Unable to get file " + fileId + ": " + e.getMessage()); + } + log.info("Content for file {} successfully retrieved: {}", fileId, attachmentByteArray.length); + + return attachmentByteArray; + } + + private GridFSFile getGridFsdbFileForFileId(String fileId) { + log.info("Received call to get GridFSFile for id: {}", fileId); + Query query = new Query(Criteria.where("_id").is(fileId)); + GridFSFile file = gridFsOperations.findOne(query); + if (file == null) { + log.error("No file found in DB for id: {}", fileId); + throw new EntityNotFoundException("No file found in DB for id: " + fileId); + } + return file; + } + + private InputStream getFileDownloadStream(ObjectId objectId) { + log.info("Retrieving file for download: {}", objectId.toString()); + GridFSDownloadStream stream = GridFSBuckets.create(mongoTemplate.getDb()) + .openDownloadStream(objectId); + log.info("Retrieved download stream {}", objectId.toString()); + return stream; + + } + + private void deleteGridFSFile(String fileId) { + log.info("Received call to delete GridFSFile with id: {}", fileId); + Query query = new Query(Criteria.where("_id").is(fileId)); + GridFSFile file = gridFsOperations.findOne(query); + if (file == null) { + log.error("No file found in DB for id: {}", fileId); + throw new EntityNotFoundException("No file found in DB for id: " + fileId); + } + gridFsOperations.delete(query); + } + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectExportServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectExportServiceImpl.java new file mode 100644 index 0000000..c47629b --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectExportServiceImpl.java @@ -0,0 +1,88 @@ +package uk.ac.ebi.spot.ontotools.curation.service.impl; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectExportRequestStatus; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.ProjectExportRequest; +import uk.ac.ebi.spot.ontotools.curation.exception.EntityNotFoundException; +import uk.ac.ebi.spot.ontotools.curation.repository.ProjectExportRequestRepository; +import uk.ac.ebi.spot.ontotools.curation.repository.ProjectRepository; +import uk.ac.ebi.spot.ontotools.curation.service.ExportExecutorService; +import uk.ac.ebi.spot.ontotools.curation.service.ExportFileStorageService; +import uk.ac.ebi.spot.ontotools.curation.service.ProjectExportService; + +import java.util.Optional; +import java.util.UUID; + +@Service +public class ProjectExportServiceImpl implements ProjectExportService { + + private static final Logger log = LoggerFactory.getLogger(ProjectExportService.class); + + @Autowired + private ProjectExportRequestRepository projectExportRequestRepository; + + @Autowired + private ExportExecutorService exportExecutorService; + + @Autowired + private ProjectRepository projectRepository; + + @Autowired + private ExportFileStorageService exportFileStorageService; + + @Override + public String registerRequest(String projectId) { + log.info("Received export request for project: {}", projectId); + Optional projectOptional = projectRepository.findById(projectId); + if (!projectOptional.isPresent()) { + log.error("Project {} not found.", projectId); + throw new EntityNotFoundException("Project " + projectId + " not found."); + } + + ProjectExportRequest projectExportRequest = projectExportRequestRepository.insert(new ProjectExportRequest(null, + projectId, UUID.randomUUID().toString(), ProjectExportRequestStatus.REQUESTED.name(), null)); + log.info("[{}] Export request registered: {} | {}", projectId, projectExportRequest.getId(), projectExportRequest.getRequestId()); + exportExecutorService.addToQueue(projectExportRequest); + return projectExportRequest.getRequestId(); + } + + @Override + public ProjectExportRequest getExportStatus(String projectId, String requestId) { + log.info("[{}] Received status update request: {}", projectId, requestId); + Optional projectOptional = projectRepository.findById(projectId); + if (!projectOptional.isPresent()) { + log.error("Project {} not found.", projectId); + throw new EntityNotFoundException("Project " + projectId + " not found."); + } + + Optional projectExportRequestOptional = projectExportRequestRepository.findByRequestId(requestId); + if (!projectExportRequestOptional.isPresent()) { + log.error("Project export request {} not found.", requestId); + throw new EntityNotFoundException("Project export request " + requestId + " not found."); + } + + return projectExportRequestOptional.get(); + } + + @Override + public byte[] getExportContent(String projectId, String requestId) { + log.info("[{}] Downloading content for: {}", projectId, requestId); + Optional projectOptional = projectRepository.findById(projectId); + if (!projectOptional.isPresent()) { + log.error("Project {} not found.", projectId); + throw new EntityNotFoundException("Project " + projectId + " not found."); + } + + Optional projectExportRequestOptional = projectExportRequestRepository.findByRequestId(requestId); + if (!projectExportRequestOptional.isPresent()) { + log.error("Project export request {} not found.", requestId); + throw new EntityNotFoundException("Project export request " + requestId + " not found."); + } + + return exportFileStorageService.retrieveFileContent(projectExportRequestOptional.get().getFileId()); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/system/GeneralCommon.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/system/GeneralCommon.java index 88286a6..ff6e820 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/system/GeneralCommon.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/system/GeneralCommon.java @@ -2,6 +2,8 @@ public class GeneralCommon { + public static final String API_PUBLIC = "/public"; + public static final String API_V1 = "/v1"; public static final String LOG_FILE_NAME = "LOG_FILE_NAME"; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/system/SystemConfigProperties.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/system/SystemConfigProperties.java index e0e5ccc..65268f8 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/system/SystemConfigProperties.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/system/SystemConfigProperties.java @@ -21,6 +21,9 @@ public class SystemConfigProperties { @Value("${ontotools-curation.auth.cert:#{NULL}}") private String certPath; + @Value("${ontotools-curation.auth.unauthenticated-endpoints-prefix:#{NULL}}") + private String unauthenticatedEndpointsPrefix; + @Value("${ontotools-curation.admin.robot-user}") private String robotUser; @@ -55,4 +58,8 @@ public String getCertPath() { public String getRobotUser() { return robotUser; } + + public String getUnauthenticatedEndpointsPrefix() { + return unauthenticatedEndpointsPrefix; + } } diff --git a/src/main/resources/application.yml b/src/main/resources/application.yml index 544bfce..ce48647 100644 --- a/src/main/resources/application.yml +++ b/src/main/resources/application.yml @@ -11,6 +11,7 @@ ontotools-curation: auth: enabled: true cert: aap.der + unauthenticated-endpoints-prefix: /public admin: robot-user: ontotools-curator@ebi.ac.uk diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index 6f43355..5ba3c51 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -33,6 +33,7 @@ import uk.ac.ebi.spot.ontotools.curation.service.MatchmakerService; import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; +import javax.annotation.PreDestroy; import java.util.ArrayList; import java.util.Arrays; import java.util.List; @@ -118,6 +119,11 @@ public void setup() throws Exception { authTokenRepository.insert(new AuthToken(null, "supertoken", "super@test.com")); } + @PreDestroy + public void destroy() { + mongoTemplate.getDb().drop(); + } + protected ProjectDto createProject(String name, String token, List datasources, List ontologies, String preferredMappingOntology, int noReviewsRequired) throws Exception { diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/PublicDataControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/PublicDataControllerTest.java new file mode 100644 index 0000000..fd2bbc5 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/PublicDataControllerTest.java @@ -0,0 +1,171 @@ +package uk.ac.ebi.spot.ontotools.curation; + +import com.fasterxml.jackson.core.type.TypeReference; +import org.apache.commons.lang3.RandomStringUtils; +import org.joda.time.DateTime; +import org.junit.Test; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.http.HttpHeaders; +import org.springframework.http.MediaType; +import org.springframework.mock.web.MockHttpServletResponse; +import org.springframework.test.context.ContextConfiguration; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectExportRequestStatus; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.ProjectExportRequest; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; +import uk.ac.ebi.spot.ontotools.curation.domain.config.ExternalServiceConfig; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; +import uk.ac.ebi.spot.ontotools.curation.repository.ExternalServiceConfigRepository; +import uk.ac.ebi.spot.ontotools.curation.repository.ProjectExportRequestRepository; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectExportStatusDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; +import uk.ac.ebi.spot.ontotools.curation.service.EntityService; +import uk.ac.ebi.spot.ontotools.curation.service.MatchmakerService; +import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; +import uk.ac.ebi.spot.ontotools.curation.service.UserService; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; + +import java.io.ByteArrayInputStream; +import java.util.ArrayList; +import java.util.Arrays; +import java.util.List; +import java.util.Optional; +import java.util.zip.ZipEntry; +import java.util.zip.ZipInputStream; + +import static junit.framework.TestCase.assertTrue; +import static org.junit.Assert.*; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.get; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.post; +import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; + +@ContextConfiguration(classes = {IntegrationTest.MockTaskExecutorConfig.class}) +public class PublicDataControllerTest extends IntegrationTest { + + @Autowired + private ExternalServiceConfigRepository externalServiceConfigRepository; + + @Autowired + private EntityService entityService; + + @Autowired + private ProjectService projectService; + + @Autowired + private UserService userService; + + @Autowired + private MatchmakerService matchmakerService; + + @Autowired + private ProjectExportRequestRepository projectExportRequestRepository; + + private Project project; + + private SourceDto sourceDto; + + @Override + public void setup() throws Exception { + super.setup(); + externalServiceConfigRepository.insert(new ExternalServiceConfig(null, "OLS", Arrays.asList(new String[]{"orphanet::ordo"}))); + externalServiceConfigRepository.insert(new ExternalServiceConfig(null, "OXO", Arrays.asList(new String[]{"ordo::orphanet"}))); + + List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); + List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); + + ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo", 0); + user1 = userService.findByEmail(user1.getEmail()); + project = projectService.retrieveProject(projectDto.getId(), user1); + sourceDto = super.createSource(project.getId()); + Provenance provenance = new Provenance(user1.getName(), user1.getEmail(), DateTime.now()); + + /** + * Other examples: + * - Hemochromatosis type 1 + * - Retinal dystrophy + */ + entity = entityService.createEntity(new Entity(null, "Achondroplasia", RandomStringUtils.randomAlphabetic(10), + RandomStringUtils.randomAlphabetic(10), sourceDto.getId(), project.getId(), provenance, EntityStatus.UNMAPPED)); + matchmakerService.runMatchmaking(sourceDto.getId(), project); + } + + + /** + * POST - GET /public/v1/projects/{projectId}/export + */ + @Test + public void shouldCreateExportRequest() throws Exception { + String endpoint = GeneralCommon.API_PUBLIC + GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_EXPORT; + String requestId = mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON)) + .andExpect(status().isCreated()) + .andReturn() + .getResponse() + .getContentAsString(); + + + endpoint = endpoint + "/" + requestId; + String response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON)) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + + ProjectExportStatusDto actual = mapper.readValue(response, new TypeReference() { + }); + assertEquals(requestId, actual.getRequestId()); + + Thread.sleep(10000); + response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON)) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + actual = mapper.readValue(response, new TypeReference() { + }); + assertEquals(requestId, actual.getRequestId()); + assertEquals(ProjectExportRequestStatus.FINALIZED.name(), actual.getStatus()); + + Optional projectExportRequestOptional = projectExportRequestRepository.findByRequestId(requestId); + assertTrue(projectExportRequestOptional.isPresent()); + assertNotNull(projectExportRequestOptional.get().getFileId()); + + endpoint = endpoint + CurationConstants.API_DOWNLOAD; + MockHttpServletResponse dataResponse = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON)) + .andExpect(status().isOk()) + .andReturn() + .getResponse(); + + byte[] payload = dataResponse.getContentAsByteArray(); + assertTrue(payload.length != 0); + assertEquals("attachment; filename=" + project.getId() + ".zip", dataResponse.getHeader(HttpHeaders.CONTENT_DISPOSITION)); + + ZipInputStream zi = null; + List entries = new ArrayList<>(); + try { + zi = new ZipInputStream(new ByteArrayInputStream(payload)); + + ZipEntry zipEntry = null; + while ((zipEntry = zi.getNextEntry()) != null) { + entries.add(zipEntry); + } + } finally { + if (zi != null) { + zi.close(); + } + } + + assertFalse(entries.isEmpty()); + assertEquals(project.getId() + ".json", entries.get(0).getName()); + super.destroy(); + } +} diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectExportStatusDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectExportStatusDtoTest.java new file mode 100644 index 0000000..7676bac --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectExportStatusDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class ProjectExportStatusDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(ProjectExportStatusDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportEntityDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportEntityDtoTest.java new file mode 100644 index 0000000..8e62b8c --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportEntityDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.export; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class ExportEntityDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(ExportEntityDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportMappingDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportMappingDtoTest.java new file mode 100644 index 0000000..d2a321d --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportMappingDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.export; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class ExportMappingDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(ExportMappingDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportMappingSuggestionDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportMappingSuggestionDtoTest.java new file mode 100644 index 0000000..0b25a9d --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportMappingSuggestionDtoTest.java @@ -0,0 +1,15 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.export; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class ExportMappingSuggestionDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(ExportMappingSuggestionDto.class) + .verify(); + } + + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/CommentDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/CommentDtoTest.java new file mode 100644 index 0000000..3f97f57 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/CommentDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class CommentDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(CommentDto.class) + .verify(); + } + +} \ No newline at end of file From d86fa156078a8d0e3f2117fcdbb130823a5aa17d Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Fri, 26 Feb 2021 16:05:14 +0800 Subject: [PATCH 25/72] Fixed upstream field names. --- .../curation/rest/dto/EntityDto.java | 24 +++++++++--------- .../rest/dto/export/ExportEntityDto.java | 25 ++++++++++--------- 2 files changed, 25 insertions(+), 24 deletions(-) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java index 3fe78f1..d3c8d1b 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java @@ -27,11 +27,11 @@ public final class EntityDto implements Serializable { @JsonProperty("name") private final String name; - @JsonProperty("baseId") - private final String baseId; + @JsonProperty("upstreamId") + private final String upstreamId; - @JsonProperty("baseField") - private final String baseField; + @JsonProperty("upstreamField") + private final String upstreamField; @JsonProperty("mappingStatus") private final String mappingStatus; @@ -49,8 +49,8 @@ public final class EntityDto implements Serializable { public EntityDto(@JsonProperty("id") String id, @JsonProperty("source") SourceDto source, @JsonProperty("name") String name, - @JsonProperty("baseId") String baseId, - @JsonProperty("baseField") String baseField, + @JsonProperty("upstreamId") String upstreamId, + @JsonProperty("upstreamField") String upstreamField, @JsonProperty("mappingStatus") String mappingStatus, @JsonProperty("mappingSuggestions") List mappingSuggestions, @JsonProperty("mappings") List mappings, @@ -58,8 +58,8 @@ public EntityDto(@JsonProperty("id") String id, this.id = id; this.source = source; this.name = name; - this.baseId = baseId; - this.baseField = baseField; + this.upstreamId = upstreamId; + this.upstreamField = upstreamField; this.mappingStatus = mappingStatus; this.mappingSuggestions = mappingSuggestions; this.mappings = mappings; @@ -94,11 +94,11 @@ public List getMappings() { return mappings; } - public String getBaseId() { - return baseId; + public String getUpstreamId() { + return upstreamId; } - public String getBaseField() { - return baseField; + public String getUpstreamField() { + return upstreamField; } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportEntityDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportEntityDto.java index 0c0978f..26b4a20 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportEntityDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportEntityDto.java @@ -17,11 +17,11 @@ public final class ExportEntityDto implements Serializable { @JsonProperty("name") private final String name; - @JsonProperty("baseId") - private final String baseId; + @JsonProperty("upstreamId") + private final String upstreamId; - @JsonProperty("baseField") - private final String baseField; + @JsonProperty("upstreamField") + private final String upstreamField; @JsonProperty("mappingSuggestions") private final List mappingSuggestions; @@ -31,13 +31,13 @@ public final class ExportEntityDto implements Serializable { @JsonCreator public ExportEntityDto(@JsonProperty("name") String name, - @JsonProperty("baseId") String baseId, - @JsonProperty("baseField") String baseField, + @JsonProperty("upstreamId") String upstreamId, + @JsonProperty("upstreamField") String upstreamField, @JsonProperty("mappingSuggestions") List mappingSuggestions, @JsonProperty("mappings") List mappings) { this.name = name; - this.baseId = baseId; - this.baseField = baseField; + this.upstreamId = upstreamId; + this.upstreamField = upstreamField; this.mappingSuggestions = mappingSuggestions; this.mappings = mappings; } @@ -46,12 +46,13 @@ public String getName() { return name; } - public String getBaseId() { - return baseId; + + public String getUpstreamId() { + return upstreamId; } - public String getBaseField() { - return baseField; + public String getUpstreamField() { + return upstreamField; } public List getMappingSuggestions() { From 523457e87bedafa477217997613da596230f9385 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Mon, 1 Mar 2021 18:33:53 +0800 Subject: [PATCH 26/72] Changed domain model to cater for 1-to-N mappings to ontology terms. --- .../curation/constants/CurationConstants.java | 2 + .../curation/domain/mapping/Mapping.java | 4 +- .../curation/domain/mapping/OntologyTerm.java | 6 + .../repository/MappingRepository.java | 3 - .../repository/OntologyTermRepository.java | 2 + .../rest/assembler/MappingDtoAssembler.java | 2 +- .../rest/controller/MappingsController.java | 110 ++++++++++-- .../rest/dto/export/ExportMappingDto.java | 13 +- .../curation/rest/dto/mapping/MappingDto.java | 12 +- .../curation/service/MappingService.java | 6 +- .../curation/service/OntologyTermService.java | 2 +- .../service/impl/EntityDataCollector.java | 5 +- .../service/impl/MappingServiceImpl.java | 107 +++++++++--- .../impl/MappingSuggestionsServiceImpl.java | 2 +- .../service/impl/OntologyTermServiceImpl.java | 10 +- .../curation/EntityControllerTest.java | 4 +- .../ontotools/curation/IntegrationTest.java | 5 +- .../curation/MappingsControllerTest.java | 156 ++++++++++++++++-- .../ontotools/curation/MatchMakingTest.java | 2 +- 19 files changed, 376 insertions(+), 77 deletions(-) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java index 3dbc5c8..cb134d5 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java @@ -28,6 +28,8 @@ public class CurationConstants { public static final String PARAM_ENTITY_ID = "entityId"; + public static final String PARAM_CURIE = "curie"; + public static final String ZOOMA_CONFIDENCE_HIGH = "HIGH"; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java index fb77f56..e6f9b03 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java @@ -32,7 +32,7 @@ public class Mapping { private String entityId; @Indexed - private String ontologyTermId; + private List ontologyTermIds; @Indexed private String projectId; @@ -49,7 +49,7 @@ public class Mapping { private Provenance created; @Transient - private OntologyTerm ontologyTerm; + private List ontologyTerms; public void addReview(Review review, int noReviewsRequired) { if (reviews == null) { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/OntologyTerm.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/OntologyTerm.java index 69cea60..267301c 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/OntologyTerm.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/OntologyTerm.java @@ -18,6 +18,7 @@ public class OntologyTerm { @Id private String id; + @Indexed private String curie; private String iri; @@ -33,4 +34,9 @@ public class OntologyTerm { private String crossRefs; + + @Override + public String toString() { + return curie + " (" + label + ")"; + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java index aa94815..bf1eaef 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java @@ -4,11 +4,8 @@ import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; import java.util.List; -import java.util.Optional; public interface MappingRepository extends MongoRepository { - Optional findByEntityIdAndOntologyTermId(String entityId, String ontologyTermId); - List findByEntityIdIn(List entityIds); List findByEntityId(String entityId); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java index f4861fa..ea2f9da 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java @@ -10,4 +10,6 @@ public interface OntologyTermRepository extends MongoRepository findByIdIn(List ontoTermIds); Optional findByIriHash(String iriHash); + + Optional findByCurie(String curie); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java index 139b245..1f23f3d 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java @@ -11,7 +11,7 @@ public class MappingDtoAssembler { public static MappingDto assemble(Mapping mapping) { return new MappingDto(mapping.getId(), mapping.getEntityId(), - OntologyTermDtoAssembler.assemble(mapping.getOntologyTerm()), + mapping.getOntologyTerms().stream().map(OntologyTermDtoAssembler::assemble).collect(Collectors.toList()), mapping.isReviewed(), mapping.getStatus(), mapping.getReviews() != null ? mapping.getReviews().stream().map(ReviewDtoAssembler::assemble).collect(Collectors.toList()) : new ArrayList<>(), diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java index 414233a..ce48f8f 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java @@ -10,10 +10,11 @@ import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; -import uk.ac.ebi.spot.ontotools.curation.domain.*; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; +import uk.ac.ebi.spot.ontotools.curation.domain.Source; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; -import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.MappingSuggestion; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.rest.assembler.EntityDtoAssembler; @@ -75,6 +76,11 @@ public EntityDto getMappings(@PathVariable String projectId, @RequestParam(value /** * POST /v1/projects/{projectId}/mappings + *

+ * Assumptions: + * - Creating a mapping = transforming an existing mapping suggestion into a new mapping. + * - No existing mappings are deleted + * - Originating mapping suggestion is removed */ @PostMapping(value = "/{projectId}" + CurationConstants.API_MAPPINGS, consumes = MediaType.APPLICATION_JSON_VALUE, @@ -82,12 +88,12 @@ public EntityDto getMappings(@PathVariable String projectId, @RequestParam(value @ResponseStatus(HttpStatus.CREATED) public EntityDto createMapping(@PathVariable String projectId, @RequestBody @Valid MappingCreationDto mappingCreationDto, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); - log.info("[{}] Request to create mapping: {} | {} | {}", user.getEmail(), projectId, mappingCreationDto.getEntityId(), mappingCreationDto.getOntologyTerm().getCurie()); + log.info("[{}] Request to create mapping: {} | {} | {}", user.getEmail(), projectId, mappingCreationDto.getEntityId(), mappingCreationDto.getOntologyTerm()); projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR})); Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); Entity entity = entityService.retrieveEntity(mappingCreationDto.getEntityId()); - OntologyTerm ontologyTerm = ontologyTermService.retrieveTermByIri(mappingCreationDto.getOntologyTerm().getIri()); + OntologyTerm ontologyTerm = ontologyTermService.retrieveTermByCurie(mappingCreationDto.getOntologyTerm().getCurie()); /** * Check if a mapping to this term already exists @@ -95,7 +101,7 @@ public EntityDto createMapping(@PathVariable String projectId, @RequestBody @Val List existingMappings = mappingService.retrieveMappingsForEntity(entity.getId()); boolean exists = false; for (Mapping mapping : existingMappings) { - if (mapping.getOntologyTermId().equalsIgnoreCase(ontologyTerm.getId())) { + if (mapping.getOntologyTermIds().contains(ontologyTerm.getId())) { exists = true; break; } @@ -111,10 +117,59 @@ public EntityDto createMapping(@PathVariable String projectId, @RequestBody @Val mappingService.createMapping(entity, ontologyTerm, provenance); /** - * New mapping created - deleting existing mappings, except of the newly created one. - * Retaining ontology terms associated with the previous mappings. + * Updating mapping status to MANUAL. + */ + entity = entityService.updateMappingStatus(entity, EntityStatus.MANUALLY_MAPPED); + + /** + * Deleting mapping suggestions associated with the current ontology term. */ - List ontologyTermIds = mappingService.deleteMappingExcluding(entity, ontologyTerm.getId()); + mappingSuggestionsService.deleteMappingSuggestions(entity.getId(), ontologyTerm.getId()); + + return packAndSend(entity, projectId); + } + + /** + * PUT /v1/projects/{projectId}/mappings/{mappingId} + *

+ * Assumptions: + * - Updating a mapping = adding an additional ontology term from a mapping suggestion to an existing mapping + * - No existing mappings are deleted + * - Originating mapping suggestion is removed + */ + @PutMapping(value = "/{projectId}" + CurationConstants.API_MAPPINGS + "/{mappingId}", + consumes = MediaType.APPLICATION_JSON_VALUE, + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.OK) + public EntityDto updateMapping(@PathVariable String projectId, @PathVariable String mappingId, @RequestBody @Valid MappingCreationDto mappingCreationDto, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to update mapping [{} - {}]: {} | {}", user.getEmail(), projectId, mappingId, mappingCreationDto.getEntityId(), mappingCreationDto.getOntologyTerm()); + projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR})); + + Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); + Entity entity = entityService.retrieveEntity(mappingCreationDto.getEntityId()); + OntologyTerm ontologyTerm = ontologyTermService.retrieveTermByCurie(mappingCreationDto.getOntologyTerm().getCurie()); + + /** + * Check if a different mapping to this term already exists + */ + List existingMappings = mappingService.retrieveMappingsForEntity(entity.getId()); + boolean exists = false; + for (Mapping mapping : existingMappings) { + if (mapping.getOntologyTermIds().contains(ontologyTerm.getId())) { + exists = true; + break; + } + } + if (exists) { + log.warn("[{}] Mapping to term [{}] already exists.", entity.getName(), ontologyTerm.getCurie()); + return packAndSend(entity, projectId); + } + + /** + * Update mapping. + */ + mappingService.updateMapping(mappingId, ontologyTerm, provenance); /** * Updating mapping status to MANUAL. @@ -126,15 +181,44 @@ public EntityDto createMapping(@PathVariable String projectId, @RequestBody @Val */ mappingSuggestionsService.deleteMappingSuggestions(entity.getId(), ontologyTerm.getId()); + return packAndSend(entity, projectId); + } + + /** + * DELETE /v1/projects/{projectId}/mappings/{mappingId}?curie= + *

+ * Assumptions: + * - Delete entire mapping when curie is missing + * - Delete only mapping to curie when this is present + * - Convert all removed curies to mapping suggestions + */ + @DeleteMapping(value = "/{projectId}" + CurationConstants.API_MAPPINGS + "/{mappingId}") + @ResponseStatus(HttpStatus.OK) + public void deleteMapping(@PathVariable String projectId, @PathVariable String mappingId, + @RequestParam(value = CurationConstants.PARAM_CURIE, required = false) String curie, + HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to delete mapping [{} - {}]: {}", user.getEmail(), projectId, mappingId, curie); + projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR})); + + Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); + Mapping mapping = mappingService.retrieveMappingById(mappingId); + Entity entity = entityService.retrieveEntity(mapping.getEntityId()); + + /** + * Delete mapping. + */ + OntologyTerm ontoTerm = curie != null ? ontologyTermService.retrieveTermByCurie(curie) : null; + List ontoTermIds = mappingService.deleteMapping(mappingId, ontoTerm != null ? ontoTerm.getId() : null, provenance); + /** - * Creating new mapping suggestion from the terms previously included in the mappings. + * Re-create mapping suggestions. */ - for (String ontologyTermId : ontologyTermIds) { - OntologyTerm ontoTerm = ontologyTermService.retrieveTermById(ontologyTermId); - mappingSuggestionsService.createMappingSuggestion(entity, ontoTerm, provenance); + for (String ontoTermId : ontoTermIds) { + OntologyTerm ontologyTerm = ontologyTermService.retrieveTermById(ontoTermId); + mappingSuggestionsService.createMappingSuggestion(entity, ontologyTerm, provenance); } - return packAndSend(entity, projectId); } private EntityDto packAndSend(Entity entity, String projectId) { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportMappingDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportMappingDto.java index b3c655b..2c35120 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportMappingDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportMappingDto.java @@ -9,6 +9,7 @@ import javax.validation.constraints.NotNull; import java.io.Serializable; +import java.util.List; @EqualsAndHashCode @JsonInclude(JsonInclude.Include.NON_NULL) @@ -17,8 +18,8 @@ public final class ExportMappingDto implements Serializable { private static final long serialVersionUID = -6638221277434507289L; @NotNull - @JsonProperty("ontologyTerm") - private final OntologyTermDto ontologyTerm; + @JsonProperty("ontologyTerms") + private final List ontologyTerms; @JsonProperty("reviewed") private final boolean reviewed; @@ -31,18 +32,18 @@ public final class ExportMappingDto implements Serializable { private final ProvenanceDto created; @JsonCreator - public ExportMappingDto(@JsonProperty("ontologyTerm") OntologyTermDto ontologyTerm, + public ExportMappingDto(@JsonProperty("ontologyTerms") List ontologyTerms, @JsonProperty("reviewed") boolean reviewed, @JsonProperty("status") String status, @JsonProperty("created") ProvenanceDto created) { - this.ontologyTerm = ontologyTerm; + this.ontologyTerms = ontologyTerms; this.reviewed = reviewed; this.status = status; this.created = created; } - public OntologyTermDto getOntologyTerm() { - return ontologyTerm; + public List getOntologyTerms() { + return ontologyTerms; } public boolean isReviewed() { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingDto.java index 0c8bda7..52f1172 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingDto.java @@ -25,8 +25,8 @@ public final class MappingDto implements Serializable { private final String entityId; @NotNull - @JsonProperty("ontologyTerm") - private final OntologyTermDto ontologyTerm; + @JsonProperty("ontologyTerms") + private final List ontologyTerms; @JsonProperty("reviewed") private final boolean reviewed; @@ -47,7 +47,7 @@ public final class MappingDto implements Serializable { @JsonCreator public MappingDto(@JsonProperty("id") String id, @JsonProperty("entityId") String entityId, - @JsonProperty("ontologyTerm") OntologyTermDto ontologyTerm, + @JsonProperty("ontologyTerms") List ontologyTerms, @JsonProperty("reviewed") boolean reviewed, @JsonProperty("status") String status, @JsonProperty("reviews") List reviews, @@ -55,7 +55,7 @@ public MappingDto(@JsonProperty("id") String id, @JsonProperty("created") ProvenanceDto created) { this.id = id; this.entityId = entityId; - this.ontologyTerm = ontologyTerm; + this.ontologyTerms = ontologyTerms; this.reviewed = reviewed; this.status = status; this.reviews = reviews; @@ -67,8 +67,8 @@ public String getId() { return id; } - public OntologyTermDto getOntologyTerm() { - return ontologyTerm; + public List getOntologyTerms() { + return ontologyTerms; } public String getEntityId() { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java index 1b0e207..1af6ec2 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java @@ -16,11 +16,13 @@ public interface MappingService { List retrieveMappingsForEntity(String entityId); - List deleteMappingExcluding(Entity entity, String ontologyTermId); - Mapping addReviewToMapping(String mappingId, String comment, int noReviewsRequired, Provenance provenance); Mapping retrieveMappingById(String mappingId); Mapping addCommentToMapping(String mappingId, String body, Provenance provenance); + + void updateMapping(String mappingId, OntologyTerm ontologyTerm, Provenance provenance); + + List deleteMapping(String mappingId, String ontoTermId, Provenance provenance); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java index 614fb32..e702648 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java @@ -15,7 +15,7 @@ public interface OntologyTermService { List retrieveAllTerms(); - OntologyTerm retrieveTermByIri(String iri); + OntologyTerm retrieveTermByCurie(String curie); OntologyTerm retrieveTermById(String ontologyTermId); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityDataCollector.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityDataCollector.java index 00e4680..989bb73 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityDataCollector.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityDataCollector.java @@ -11,11 +11,13 @@ import uk.ac.ebi.spot.ontotools.curation.rest.dto.export.ExportEntityDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.export.ExportMappingDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.export.ExportMappingSuggestionDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.OntologyTermDto; import java.io.ByteArrayOutputStream; import java.io.IOException; import java.util.ArrayList; import java.util.List; +import java.util.stream.Collectors; import java.util.zip.ZipEntry; import java.util.zip.ZipOutputStream; @@ -38,7 +40,8 @@ public void add(Entity entity, List mappingList, List ontologyTermDtos = mapping.getOntologyTerms().stream().map(OntologyTermDtoAssembler::assemble).collect(Collectors.toList()); + mappings.add(new ExportMappingDto(ontologyTermDtos, mapping.isReviewed(), mapping.getStatus(), ProvenanceDtoAssembler.assemble(mapping.getCreated()))); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java index 5177d1e..1a16da9 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java @@ -17,7 +17,6 @@ import uk.ac.ebi.spot.ontotools.curation.service.OntologyTermService; import java.util.*; -import java.util.stream.Collectors; @Service public class MappingServiceImpl implements MappingService { @@ -33,33 +32,86 @@ public class MappingServiceImpl implements MappingService { @Override public Mapping createMapping(Entity entity, OntologyTerm ontologyTerm, Provenance provenance) { log.info("Creating mapping for entity [{}]: {}", entity.getName(), ontologyTerm.getCurie()); - Optional mappingOp = mappingRepository.findByEntityIdAndOntologyTermId(entity.getId(), ontologyTerm.getId()); - if (mappingOp.isPresent()) { - log.warn("Mapping for between entity [{}] and ontology term [{}] already exists: {}", entity.getName(), ontologyTerm.getCurie(), mappingOp.get().getId()); - return mappingOp.get(); + List mappings = mappingRepository.findByEntityId(entity.getId()); + for (Mapping mapping : mappings) { + if (mapping.getOntologyTermIds().contains(ontologyTerm.getId())) { + log.warn("Mapping for between entity [{}] and ontology term [{}] already exists: {}", entity.getName(), ontologyTerm.getCurie(), mapping.getId()); + return mapping; + } } - Mapping created = mappingRepository.insert(new Mapping(null, entity.getId(), ontologyTerm.getId(), entity.getProjectId(), + Mapping created = mappingRepository.insert(new Mapping(null, entity.getId(), Arrays.asList(new String[]{ontologyTerm.getId()}), entity.getProjectId(), false, new ArrayList<>(), new ArrayList<>(), MappingStatus.AWAITING_REVIEW.name(), provenance, null)); log.info("Mapping for between entity [{}] and ontology term [{}] created: {}", entity.getName(), ontologyTerm.getCurie(), created.getId()); return created; } + @Override + public void updateMapping(String mappingId, OntologyTerm ontologyTerm, Provenance provenance) { + log.info("Updating mapping [{}]: {}", mappingId, ontologyTerm.getCurie()); + Optional mappingOp = mappingRepository.findById(mappingId); + if (!mappingOp.isPresent()) { + log.error("Mapping not found: {}", mappingId); + throw new EntityNotFoundException("Mapping not found: " + mappingId); + } + + /** + * TODO: Associate the provenance to the ontology term rather than the entire mapping !? + */ + Mapping mapping = mappingOp.get(); + mapping.getOntologyTermIds().add(ontologyTerm.getId()); + mappingRepository.save(mapping); + } + + @Override + public List deleteMapping(String mappingId, String ontoTermId, Provenance provenance) { + Optional mappingOp = mappingRepository.findById(mappingId); + if (!mappingOp.isPresent()) { + log.error("Mapping not found: {}", mappingId); + throw new EntityNotFoundException("Mapping not found: " + mappingId); + } + + Mapping mapping = mappingOp.get(); + List result = new ArrayList<>(); + if (ontoTermId != null) { + mapping.getOntologyTermIds().remove(ontoTermId); + result.add(ontoTermId); + mappingRepository.save(mapping); + } else { + result.addAll(mapping.getOntologyTermIds()); + mappingRepository.delete(mapping); + } + + return result; + } + @Override public Map> retrieveMappingsForEntities(List entityIds) { log.info("Retrieving mappings for entities: {}", entityIds); List mappings = mappingRepository.findByEntityIdIn(entityIds); - List ontologyTermIds = mappings.stream().map(Mapping::getOntologyTermId).collect(Collectors.toList()); + List ontologyTermIds = new ArrayList<>(); + for (Mapping mapping : mappings) { + for (String oId : mapping.getOntologyTermIds()) { + if (!ontologyTermIds.contains(oId)) { + ontologyTermIds.add(oId); + } + } + } Map ontologyTermMap = ontologyTermService.retrieveTerms(ontologyTermIds); log.info("Found {} mappings.", mappings.size()); Map> result = new HashMap<>(); for (Mapping mapping : mappings) { - if (!ontologyTermMap.containsKey(mapping.getOntologyTermId())) { - log.warn("Unable to find ontology term [{}] for mapping suggestion: {}", mapping.getOntologyTermId(), mapping.getId()); - continue; + List ontologyTerms = new ArrayList<>(); + for (String oId : mapping.getOntologyTermIds()) { + if (!ontologyTermMap.containsKey(oId)) { + log.warn("Unable to find ontology term [{}] for mapping suggestion: {}", oId, mapping.getId()); + continue; + } else { + ontologyTerms.add(ontologyTermMap.get(oId)); + } } List list = result.containsKey(mapping.getEntityId()) ? result.get(mapping.getEntityId()) : new ArrayList<>(); - mapping.setOntologyTerm(ontologyTermMap.get(mapping.getOntologyTermId())); + mapping.setOntologyTerms(ontologyTerms); list.add(mapping); result.put(mapping.getEntityId(), list); } @@ -70,38 +122,50 @@ public Map> retrieveMappingsForEntities(List entit public List retrieveMappingsForEntity(String entityId) { log.info("Retrieving mappings for entity: {}", entityId); List mappings = mappingRepository.findByEntityId(entityId); - List ontologyTermIds = mappings.stream().map(Mapping::getOntologyTermId).collect(Collectors.toList()); + List ontologyTermIds = new ArrayList<>(); + for (Mapping mapping : mappings) { + for (String oId : mapping.getOntologyTermIds()) { + if (!ontologyTermIds.contains(oId)) { + ontologyTermIds.add(oId); + } + } + } + Map ontologyTermMap = ontologyTermService.retrieveTerms(ontologyTermIds); log.info("Found {} mappings.", mappings.size()); List result = new ArrayList<>(); for (Mapping mapping : mappings) { - if (!ontologyTermMap.containsKey(mapping.getOntologyTermId())) { - log.warn("Unable to find ontology term [{}] for mapping suggestion: {}", mapping.getOntologyTermId(), mapping.getId()); - continue; + List ontologyTerms = new ArrayList<>(); + for (String oId : mapping.getOntologyTermIds()) { + if (!ontologyTermMap.containsKey(oId)) { + log.warn("Unable to find ontology term [{}] for mapping suggestion: {}", oId, mapping.getId()); + continue; + } else { + ontologyTerms.add(ontologyTermMap.get(oId)); + } } - mapping.setOntologyTerm(ontologyTermMap.get(mapping.getOntologyTermId())); + mapping.setOntologyTerms(ontologyTerms); result.add(mapping); } return result; } + + /* @Override public List deleteMappingExcluding(Entity entity, String ontologyTermId) { log.info("Deleting mappings for entity [{}] excluding ontology term: {}", entity.getId(), ontologyTermId); - /** - * TODO: Archive the reviews associated with the previous mappings so that they can be restored if need be at a later time. - */ - List mappings = mappingRepository.findByEntityId(entity.getId()); List result = new ArrayList<>(); for (Mapping mapping : mappings) { - if (!mapping.getOntologyTermId().equalsIgnoreCase(ontologyTermId)) { + if (!mapping.getOntologyTermIds().contains(ontologyTermId)) { result.add(mapping.getOntologyTermId()); mappingRepository.delete(mapping); } } return result; } + */ @Override public Mapping addReviewToMapping(String mappingId, String comment, int noReviewsRequired, Provenance provenance) { @@ -145,4 +209,5 @@ public Mapping addCommentToMapping(String mappingId, String body, Provenance pro mapping = mappingRepository.save(mapping); return mapping; } + } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java index 8e82cbd..42987a1 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java @@ -96,7 +96,7 @@ public void deleteMappingSuggestions(String entityId, String ontologyTermId) { log.info("Deleting mapping suggestions for entity [{}] with ontology term: {}", entityId, ontologyTermId); List mappingSuggestions = mappingSuggestionRepository.findByEntityId(entityId); for (MappingSuggestion mappingSuggestion : mappingSuggestions) { - if (!mappingSuggestion.getOntologyTermId().equalsIgnoreCase(ontologyTermId)) { + if (mappingSuggestion.getOntologyTermId().equalsIgnoreCase(ontologyTermId)) { mappingSuggestionRepository.delete(mappingSuggestion); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java index ec14c3d..b63561e 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java @@ -110,12 +110,12 @@ public List retrieveAllTerms() { } @Override - public OntologyTerm retrieveTermByIri(String iri) { - log.info("Retrieving ontology term: {}", iri); - Optional ontologyTermOp = ontologyTermRepository.findByIriHash(DigestUtils.sha256Hex(iri)); + public OntologyTerm retrieveTermByCurie(String curie) { + log.info("Retrieving ontology term: {}", curie); + Optional ontologyTermOp = ontologyTermRepository.findByCurie(curie); if (!ontologyTermOp.isPresent()) { - log.error("Unable to find ontology term: {}", iri); - throw new EntityNotFoundException("Unable to find ontology term: " + iri); + log.error("Unable to find ontology term: {}", curie); + throw new EntityNotFoundException("Unable to find ontology term: " + curie); } return ontologyTermOp.get(); } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java index 8e44259..428162f 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java @@ -72,7 +72,7 @@ public void shouldGetEntities() throws Exception { assertEquals(EntityStatus.AUTO_MAPPED.name(), actual.getMappingStatus()); assertEquals(1, actual.getMappings().size()); - assertEquals("Orphanet:15", actual.getMappings().get(0).getOntologyTerm().getCurie()); + assertEquals("Orphanet:15", actual.getMappings().get(0).getOntologyTerms().get(0).getCurie()); assertEquals(MappingStatus.AWAITING_REVIEW.name(), actual.getMappings().get(0).getStatus()); assertEquals(2, actual.getMappingSuggestions().size()); @@ -112,7 +112,7 @@ public void shouldGetEntity() throws Exception { assertEquals(EntityStatus.AUTO_MAPPED.name(), actual.getMappingStatus()); assertEquals(1, actual.getMappings().size()); - assertEquals("Orphanet:15", actual.getMappings().get(0).getOntologyTerm().getCurie()); + assertEquals("Orphanet:15", actual.getMappings().get(0).getOntologyTerms().get(0).getCurie()); assertEquals(MappingStatus.AWAITING_REVIEW.name(), actual.getMappings().get(0).getStatus()); assertEquals(2, actual.getMappingSuggestions().size()); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index 5ba3c51..8b11b84 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -101,6 +101,8 @@ public MatchmakerService matchmakerService() { protected Entity entity; + protected Mapping orphaTermMapping; + @Before public void setup() throws Exception { mongoTemplate.getDb().drop(); @@ -207,7 +209,8 @@ protected void createEntityTestData(String sourceId, String projectId, User user mappingSuggestionRepository.insert(new MappingSuggestion(null, entity.getId(), orphaTerm.getId(), projectId, provenance, null)); mappingSuggestionRepository.insert(new MappingSuggestion(null, entity.getId(), mondoTerm.getId(), projectId, provenance, null)); - mappingRepository.insert(new Mapping(null, entity.getId(), orphaTerm.getId(), projectId, false, new ArrayList<>(), new ArrayList<>(), MappingStatus.AWAITING_REVIEW.name(), provenance, null)); + orphaTermMapping = mappingRepository.insert(new Mapping(null, entity.getId(), Arrays.asList(new String[]{orphaTerm.getId()}), + projectId, false, new ArrayList<>(), new ArrayList<>(), MappingStatus.AWAITING_REVIEW.name(), provenance, null)); } protected EntityDto retrieveEntity(String projectId) throws Exception { diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java index 2432003..a3f56e3 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java @@ -14,6 +14,7 @@ import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingCreationDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingSuggestionDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.OntologyTermDto; import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; @@ -23,9 +24,8 @@ import java.util.Arrays; import java.util.List; -import static org.junit.Assert.assertEquals; -import static org.junit.Assert.assertNotNull; -import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.post; +import static org.junit.Assert.*; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.*; import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; @ContextConfiguration(classes = {IntegrationTest.MockTaskExecutorConfig.class}) @@ -64,7 +64,7 @@ public void shouldGetMappings() throws Exception { assertEquals(EntityStatus.AUTO_MAPPED.name(), actual.getMappingStatus()); assertEquals(1, actual.getMappings().size()); - assertEquals("Orphanet:15", actual.getMappings().get(0).getOntologyTerm().getCurie()); + assertEquals("Orphanet:15", actual.getMappings().get(0).getOntologyTerms().get(0).getCurie()); assertEquals(MappingStatus.AWAITING_REVIEW.name(), actual.getMappings().get(0).getStatus()); assertEquals(2, actual.getMappingSuggestions().size()); @@ -114,23 +114,157 @@ public void shouldCreateMapping() throws Exception { assertEquals("Achondroplasia", actual.getName()); assertEquals(EntityStatus.MANUALLY_MAPPED.name(), actual.getMappingStatus()); + assertEquals(2, actual.getMappings().size()); + int foundCuries = 0; + for (MappingDto mappingDto : actual.getMappings()) { + if (mappingDto.getOntologyTerms().get(0).getCurie().equalsIgnoreCase("Orphanet:15")) { + foundCuries++; + } + if (mappingDto.getOntologyTerms().get(0).getCurie().equalsIgnoreCase("MONDO:0007037")) { + foundCuries++; + } + } + + assertEquals(2, foundCuries); + for (MappingDto mappingDto : actual.getMappings()) { + assertEquals(MappingStatus.AWAITING_REVIEW.name(), mappingDto.getStatus()); + } + + assertEquals(1, actual.getMappingSuggestions().size()); + assertEquals("Orphanet:15", actual.getMappingSuggestions().get(0).getOntologyTerm().getCurie()); + + assertEquals(sourceDto.getId(), actual.getSource().getId()); + } + + /** + * PUT /v1/projects/{projectId}/mappings/{mappingId} + */ + @Test + public void shouldUpdateMapping() throws Exception { + EntityDto entityDto = super.retrieveEntity(project.getId()); + OntologyTermDto ontologyTermDto = null; + for (MappingSuggestionDto mappingSuggestionDto : entityDto.getMappingSuggestions()) { + if (mappingSuggestionDto.getOntologyTerm().getCurie().equalsIgnoreCase("MONDO:0007037")) { + ontologyTermDto = mappingSuggestionDto.getOntologyTerm(); + break; + } + } + assertNotNull(ontologyTermDto); + MappingCreationDto mappingCreationDto = new MappingCreationDto(entityDto.getId(), ontologyTermDto); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + orphaTermMapping.getId(); + String response = mockMvc.perform(put(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(mappingCreationDto)) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + EntityDto actual = mapper.readValue(response, new TypeReference() { + }); + + assertEquals("Achondroplasia", actual.getName()); + assertEquals(EntityStatus.MANUALLY_MAPPED.name(), actual.getMappingStatus()); + assertEquals(1, actual.getMappings().size()); - assertEquals("MONDO:0007037", actual.getMappings().get(0).getOntologyTerm().getCurie()); - assertEquals(MappingStatus.AWAITING_REVIEW.name(), actual.getMappings().get(0).getStatus()); + int foundCuries = 0; + for (OntologyTermDto ontologyTerm : actual.getMappings().get(0).getOntologyTerms()) { + if (ontologyTerm.getCurie().equalsIgnoreCase("Orphanet:15")) { + foundCuries++; + } + if (ontologyTerm.getCurie().equalsIgnoreCase("MONDO:0007037")) { + foundCuries++; + } + } - assertEquals(2, actual.getMappingSuggestions().size()); + assertEquals(2, foundCuries); + assertEquals(1, actual.getMappingSuggestions().size()); + assertEquals("Orphanet:15", actual.getMappingSuggestions().get(0).getOntologyTerm().getCurie()); + } + + /** + * DELETE /v1/projects/{projectId}/mappings/{mappingId}?curie= + */ + @Test + public void shouldDeleteMappingByCurie() throws Exception { + EntityDto entityDto = super.retrieveEntity(project.getId()); + OntologyTermDto ontologyTermDto = null; + for (MappingSuggestionDto mappingSuggestionDto : entityDto.getMappingSuggestions()) { + if (mappingSuggestionDto.getOntologyTerm().getCurie().equalsIgnoreCase("MONDO:0007037")) { + ontologyTermDto = mappingSuggestionDto.getOntologyTerm(); + break; + } + } + assertNotNull(ontologyTermDto); + MappingCreationDto mappingCreationDto = new MappingCreationDto(entityDto.getId(), ontologyTermDto); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + orphaTermMapping.getId(); + String response = mockMvc.perform(put(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(mappingCreationDto)) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + EntityDto actual = mapper.readValue(response, new TypeReference() { + }); + + assertEquals(1, actual.getMappings().size()); int foundCuries = 0; - for (MappingSuggestionDto mappingSuggestion : actual.getMappingSuggestions()) { - if (mappingSuggestion.getOntologyTerm().getCurie().equalsIgnoreCase("Orphanet:15")) { + for (OntologyTermDto ontologyTerm : actual.getMappings().get(0).getOntologyTerms()) { + if (ontologyTerm.getCurie().equalsIgnoreCase("Orphanet:15")) { foundCuries++; } - if (mappingSuggestion.getOntologyTerm().getCurie().equalsIgnoreCase("MONDO:0007037")) { + if (ontologyTerm.getCurie().equalsIgnoreCase("MONDO:0007037")) { foundCuries++; } } assertEquals(2, foundCuries); - assertEquals(sourceDto.getId(), actual.getSource().getId()); + assertEquals(1, actual.getMappingSuggestions().size()); + assertEquals("Orphanet:15", actual.getMappingSuggestions().get(0).getOntologyTerm().getCurie()); + + endpoint += "?curie=MONDO:0007037"; + + mockMvc.perform(delete(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()); + + entityDto = super.retrieveEntity(project.getId()); + assertEquals(1, entityDto.getMappings().size()); + assertEquals(1, entityDto.getMappings().get(0).getOntologyTerms().size()); + assertEquals("Orphanet:15", entityDto.getMappings().get(0).getOntologyTerms().get(0).getCurie()); + + assertEquals(2, entityDto.getMappingSuggestions().size()); } + /** + * DELETE /v1/projects/{projectId}/mappings/{mappingId} + */ + @Test + public void shouldDeleteMapping() throws Exception { + EntityDto entityDto = super.retrieveEntity(project.getId()); + OntologyTermDto ontologyTermDto = null; + for (MappingSuggestionDto mappingSuggestionDto : entityDto.getMappingSuggestions()) { + if (mappingSuggestionDto.getOntologyTerm().getCurie().equalsIgnoreCase("MONDO:0007037")) { + ontologyTermDto = mappingSuggestionDto.getOntologyTerm(); + break; + } + } + assertNotNull(ontologyTermDto); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + orphaTermMapping.getId(); + mockMvc.perform(delete(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()); + + entityDto = super.retrieveEntity(project.getId()); + assertTrue(entityDto.getMappings().isEmpty()); + assertEquals(2, entityDto.getMappingSuggestions().size()); + } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java index 5bcbc60..86665dd 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java @@ -118,7 +118,7 @@ public void runMatchmakingTest() { assertEquals(1, mappings.size()); for (Mapping mapping : mappings) { - assertTrue(ontoMap.containsKey(mapping.getOntologyTermId())); + assertTrue(ontoMap.containsKey(mapping.getOntologyTermIds().get(0))); assertEquals(MappingStatus.AWAITING_REVIEW.name(), mapping.getStatus()); } } From ea5014c06661862d526d6b72c490ce7a43b791fe Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Wed, 3 Mar 2021 16:13:52 +0800 Subject: [PATCH 27/72] Fixed missing runtime dependency. --- pom.xml | 6 ++++++ .../ontotools/curation/domain/mapping/OntologyTerm.java | 4 ++++ .../curation/service/impl/MatchmakerServiceImpl.java | 4 ++++ .../ontotools/curation/service/impl/ZoomaServiceImpl.java | 2 +- 4 files changed, 15 insertions(+), 1 deletion(-) diff --git a/pom.xml b/pom.xml index 482e527..359d0a6 100644 --- a/pom.xml +++ b/pom.xml @@ -26,6 +26,7 @@ 5.3.3 4.0.1 2.0.1.Final + 2.3.1 2.10.9 1.18.18 @@ -214,6 +215,11 @@ ${httpclient.version} + + javax.xml.bind + jaxb-api + ${jaxb.version} + joda-time joda-time diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/OntologyTerm.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/OntologyTerm.java index 69cea60..62c1dcc 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/OntologyTerm.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/OntologyTerm.java @@ -33,4 +33,8 @@ public class OntologyTerm { private String crossRefs; + @Override + public String toString() { + return curie + " (" + label + ")"; + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java index 673ab31..c7939b6 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java @@ -128,6 +128,7 @@ private void autoMap(Entity entity, Project project, User user) { } } + log.info(" -- Final IRIs and terms created: {}", finalIRIs, termsCreated); List newTerms = findExactMapping(entity, termsCreated, highConfidenceIRIs, project, provenance); if (!newTerms.isEmpty() && termsCreated.isEmpty()) { entity = entityService.updateMappingStatus(entity, EntityStatus.SUGGESTIONS_PROVIDED); @@ -161,9 +162,11 @@ private List findExactMapping(Entity entity, List te } } + log.info(" -- Got to the OXO part: {} | {} | {}", entity.getName(), termsCreated, highConfidenceIRIs); for (String iri : highConfidenceIRIs) { String ontoId = CurationUtil.ontoFromIRI(iri); List olsTerms = olsService.retrieveTerms(ontoId, iri); + log.info(" --- OntoId | OLS results: {} | {}", ontoId, olsTerms.size()); if (olsTerms.isEmpty()) { log.warn("Found no OLS results. Cannot continue mapping for: {}", entity.getName()); continue; @@ -179,6 +182,7 @@ private List findExactMapping(Entity entity, List te CurationUtil.configForField(entity, project.getOntologies())); for (OXOMappingResponseDto oxoMappingResponseDto : oxoMappings) { String targetOntoId = oxoMappingResponseDto.getTargetPrefix().toLowerCase(); + log.info(" ---- OXO onto: {} | {}", targetOntoId, oxoMappingResponseDto.getCurie()); olsTerms = olsService.retrieveTerms(targetOntoId, oxoMappingResponseDto.getCurie()); if (olsTerms.isEmpty()) { continue; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ZoomaServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ZoomaServiceImpl.java index a4397c7..220e2f0 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ZoomaServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ZoomaServiceImpl.java @@ -34,7 +34,7 @@ public class ZoomaServiceImpl implements ZoomaService { private RestTemplate restTemplate; public List annotate(String entityValue, List datasources, List ontologies) { - log.info("Calling Zooma for entity value: {}", entityValue); + log.info("Calling Zooma for entity value: {} | {} | {}", entityValue, datasources, ontologies); String encodedString; try { encodedString = URLEncoder.encode(entityValue, StandardCharsets.UTF_8.toString()); From 6f37a1e53e2323e3d48f6526f9b27f13b1f590da Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Wed, 3 Mar 2021 21:14:40 +0800 Subject: [PATCH 28/72] Removed calls to OXO. Optimized auto-mapping creation process. --- .../service/impl/MatchmakerServiceImpl.java | 97 ++++--------------- 1 file changed, 20 insertions(+), 77 deletions(-) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java index c7939b6..abf4ca8 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java @@ -12,13 +12,14 @@ import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSTermDto; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.oxo.OXOMappingResponseDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.zooma.ZoomaResponseDto; import uk.ac.ebi.spot.ontotools.curation.service.*; import uk.ac.ebi.spot.ontotools.curation.util.CurationUtil; -import java.util.*; +import java.util.ArrayList; +import java.util.HashSet; +import java.util.List; +import java.util.Set; import java.util.stream.Stream; import static uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants.ZOOMA_CONFIDENCE_HIGH; @@ -43,12 +44,6 @@ public class MatchmakerServiceImpl implements MatchmakerService { @Autowired private OntologyTermService ontologyTermService; - @Autowired - private OLSService olsService; - - @Autowired - private OXOService oxoService; - @Autowired private UserService userService; @@ -118,10 +113,25 @@ private void autoMap(Entity entity, Project project, User user) { if (ontologyTerm != null) { termsCreated.add(ontologyTerm); mappingSuggestionsService.createMappingSuggestion(entity, ontologyTerm, provenance); + + if (highConfidenceIRIs.contains(iri)) { + if (entity.getMappingStatus().equals(EntityStatus.UNMAPPED) || entity.getMappingStatus().equals(EntityStatus.SUGGESTIONS_PROVIDED)) { + mappingService.createMapping(entity, ontologyTerm, provenance); + entity = entityService.updateMappingStatus(entity, EntityStatus.AUTO_MAPPED); + log.info("Found high confidence mapping for [{}] in: {}", entity.getName(), ontologyTerm.getIri()); + } + } else { + if (entity.getName().equalsIgnoreCase(ontologyTerm.getLabel()) && + (entity.getMappingStatus().equals(EntityStatus.UNMAPPED) || entity.getMappingStatus().equals(EntityStatus.SUGGESTIONS_PROVIDED))) { + mappingService.createMapping(entity, ontologyTerm, provenance); + entity = entityService.updateMappingStatus(entity, EntityStatus.AUTO_MAPPED); + log.info("Found exact text matching for [{}] in: {}", entity.getName(), ontologyTerm.getIri()); + } + } } } - if (!termsCreated.isEmpty()) { + if (!termsCreated.isEmpty() && entity.getMappingStatus().equals(EntityStatus.UNMAPPED)) { entity = entityService.updateMappingStatus(entity, EntityStatus.SUGGESTIONS_PROVIDED); if (entity == null) { return; @@ -129,74 +139,7 @@ private void autoMap(Entity entity, Project project, User user) { } log.info(" -- Final IRIs and terms created: {}", finalIRIs, termsCreated); - List newTerms = findExactMapping(entity, termsCreated, highConfidenceIRIs, project, provenance); - if (!newTerms.isEmpty() && termsCreated.isEmpty()) { - entity = entityService.updateMappingStatus(entity, EntityStatus.SUGGESTIONS_PROVIDED); - } - termsCreated.addAll(newTerms); mappingSuggestionsService.deleteMappingSuggestionsExcluding(entity, termsCreated); } - private List findExactMapping(Entity entity, List termsCreated, List highConfidenceIRIs, Project project, Provenance provenance) { - List ontoSuggestions = new ArrayList<>(); - - if (!entity.getMappingStatus().equals(EntityStatus.UNMAPPED)) { - log.warn("Entity has an existing mapping."); - } - - for (OntologyTerm ontologyTerm : termsCreated) { - if (highConfidenceIRIs.contains(ontologyTerm.getIri())) { - mappingService.createMapping(entity, ontologyTerm, provenance); - entity = entityService.updateMappingStatus(entity, EntityStatus.AUTO_MAPPED); - log.info("Found high confidence mapping for [{}] in: {}", entity.getName(), ontologyTerm.getIri()); - return ontoSuggestions; - } - } - - for (OntologyTerm ontologyTerm : termsCreated) { - if (entity.getName().equalsIgnoreCase(ontologyTerm.getLabel())) { - mappingService.createMapping(entity, ontologyTerm, provenance); - entity = entityService.updateMappingStatus(entity, EntityStatus.AUTO_MAPPED); - log.info("Found exact text matching for [{}] in: {}", entity.getName(), ontologyTerm.getIri()); - return ontoSuggestions; - } - } - - log.info(" -- Got to the OXO part: {} | {} | {}", entity.getName(), termsCreated, highConfidenceIRIs); - for (String iri : highConfidenceIRIs) { - String ontoId = CurationUtil.ontoFromIRI(iri); - List olsTerms = olsService.retrieveTerms(ontoId, iri); - log.info(" --- OntoId | OLS results: {} | {}", ontoId, olsTerms.size()); - if (olsTerms.isEmpty()) { - log.warn("Found no OLS results. Cannot continue mapping for: {}", entity.getName()); - continue; - } - if (olsTerms.size() > 1) { - log.warn("Found {} OLS results. Using only the first one to map to: {}", olsTerms.size(), entity.getName()); - } - - /** - * TODO: Discuss why are so many calls to OLS required - */ - List oxoMappings = oxoService.findMapping(Arrays.asList(new String[]{olsTerms.get(0).getCurie()}), - CurationUtil.configForField(entity, project.getOntologies())); - for (OXOMappingResponseDto oxoMappingResponseDto : oxoMappings) { - String targetOntoId = oxoMappingResponseDto.getTargetPrefix().toLowerCase(); - log.info(" ---- OXO onto: {} | {}", targetOntoId, oxoMappingResponseDto.getCurie()); - olsTerms = olsService.retrieveTerms(targetOntoId, oxoMappingResponseDto.getCurie()); - if (olsTerms.isEmpty()) { - continue; - } - String resultIri = olsTerms.get(0).getIri(); - OntologyTerm ontologyTerm = ontologyTermService.createTerm(resultIri, project); - if (ontologyTerm != null) { - ontoSuggestions.add(ontologyTerm); - mappingSuggestionsService.createMappingSuggestion(entity, ontologyTerm, provenance); - } - } - } - - return ontoSuggestions; - } - } From 47c1d3e7adbfc91fd4efc98b2a55e6a74ede70a4 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Wed, 3 Mar 2021 23:10:29 +0800 Subject: [PATCH 29/72] Added set of controlled matchmaking tests to understand all possible mapping scenarios. --- .../curation/service/ProjectService.java | 4 +- .../service/impl/MatchmakerServiceImpl.java | 2 +- .../service/impl/OntologyTermServiceImpl.java | 2 +- .../ontotools/curation/IntegrationTest.java | 20 ++ .../curation/MatchMakingContolledTest.java | 340 ++++++++++++++++++ 5 files changed, 364 insertions(+), 4 deletions(-) create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectService.java index 1e4b457..23fa6b4 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectService.java @@ -9,9 +9,9 @@ public interface ProjectService { List retrieveProjects(User user); - Project createProject(Project disassemble, User user); + Project createProject(Project project, User user); - Project updateProject(Project disassemble, String projectId, User user); + Project updateProject(Project project, String projectId, User user); void deleteProject(String projectId, User user); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java index abf4ca8..8b32810 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java @@ -114,7 +114,7 @@ private void autoMap(Entity entity, Project project, User user) { termsCreated.add(ontologyTerm); mappingSuggestionsService.createMappingSuggestion(entity, ontologyTerm, provenance); - if (highConfidenceIRIs.contains(iri)) { + if (highConfidenceIRIs.contains(ontologyTerm.getIri())) { if (entity.getMappingStatus().equals(EntityStatus.UNMAPPED) || entity.getMappingStatus().equals(EntityStatus.SUGGESTIONS_PROVIDED)) { mappingService.createMapping(entity, ontologyTerm, provenance); entity = entityService.updateMappingStatus(entity, EntityStatus.AUTO_MAPPED); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java index ec14c3d..48c55aa 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java @@ -83,7 +83,7 @@ public OntologyTerm createTerm(String iri, Project project) { DigestUtils.sha256Hex(iri), olsTermDto.getLabel(), TermStatus.CURRENT.name(), null, null); } else { OLSTermDto olsTermDto = parentOntoResponse.get(0); - ot = new OntologyTerm(null, olsTermDto.getCurie(), iri, DigestUtils.sha256Hex(iri), olsTermDto.getLabel(), termStatus, null, null); + ot = new OntologyTerm(null, olsTermDto.getCurie(), olsTermDto.getIri(), DigestUtils.sha256Hex(olsTermDto.getIri()), olsTermDto.getLabel(), termStatus, null, null); } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index 5ba3c51..89740c4 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -31,6 +31,8 @@ import uk.ac.ebi.spot.ontotools.curation.repository.*; import uk.ac.ebi.spot.ontotools.curation.rest.dto.*; import uk.ac.ebi.spot.ontotools.curation.service.MatchmakerService; +import uk.ac.ebi.spot.ontotools.curation.service.OLSService; +import uk.ac.ebi.spot.ontotools.curation.service.ZoomaService; import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; import javax.annotation.PreDestroy; @@ -67,6 +69,24 @@ public MatchmakerService matchmakerService() { } } + @Configuration + public static class MockZoomaServiceConfig { + + @Bean + public ZoomaService zoomaService() { + return mock(ZoomaService.class); + } + } + + @Configuration + public static class MockOLSServiceConfig { + + @Bean + public OLSService olsService() { + return mock(OLSService.class); + } + } + @Autowired private MongoTemplate mongoTemplate; diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java new file mode 100644 index 0000000..2ad85a8 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java @@ -0,0 +1,340 @@ +package uk.ac.ebi.spot.ontotools.curation; + +import org.apache.commons.lang3.RandomStringUtils; +import org.joda.time.DateTime; +import org.junit.Test; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.test.context.ContextConfiguration; +import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; +import uk.ac.ebi.spot.ontotools.curation.domain.config.ExternalServiceConfig; +import uk.ac.ebi.spot.ontotools.curation.domain.config.ProjectMappingConfig; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.MappingSuggestion; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.repository.ExternalServiceConfigRepository; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSTermDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.zooma.ZoomaResponseDto; +import uk.ac.ebi.spot.ontotools.curation.service.*; +import uk.ac.ebi.spot.ontotools.curation.util.CurationUtil; + +import java.util.*; + +import static org.junit.Assert.assertEquals; +import static org.junit.Assert.assertTrue; +import static org.mockito.ArgumentMatchers.any; +import static org.mockito.ArgumentMatchers.eq; +import static org.mockito.Mockito.when; + +@ContextConfiguration(classes = {IntegrationTest.MockTaskExecutorConfig.class, + IntegrationTest.MockZoomaServiceConfig.class, + IntegrationTest.MockOLSServiceConfig.class}) +public class MatchMakingContolledTest extends IntegrationTest { + + @Autowired + private ExternalServiceConfigRepository externalServiceConfigRepository; + + @Autowired + private EntityService entityService; + + @Autowired + private ProjectService projectService; + + @Autowired + private UserService userService; + + @Autowired + private MatchmakerService matchmakerService; + + @Autowired + private MappingSuggestionsService mappingSuggestionsService; + + @Autowired + private MappingService mappingService; + + @Autowired + private OntologyTermService ontologyTermService; + + private Project project; + + private SourceDto sourceDto; + + private Entity entity; + + private List datasources; + + private List ontologies; + + @Autowired + private ZoomaService zoomaService; + + @Autowired + private OLSService olsService; + + @Override + public void setup() throws Exception { + super.setup(); + externalServiceConfigRepository.insert(new ExternalServiceConfig(null, "OLS", Arrays.asList(new String[]{"orphanet::ordo"}))); + externalServiceConfigRepository.insert(new ExternalServiceConfig(null, "OXO", Arrays.asList(new String[]{"ordo::orphanet"}))); + + this.datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); + this.ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); + + ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo", 0); + user1 = userService.findByEmail(user1.getEmail()); + project = projectService.retrieveProject(projectDto.getId(), user1); + sourceDto = super.createSource(project.getId()); + Provenance provenance = new Provenance(user1.getName(), user1.getEmail(), DateTime.now()); + + /** + * Other examples: + * - Hemochromatosis type 1 + * - Retinal dystrophy + */ + entity = entityService.createEntity(new Entity(null, "Achondroplasia", RandomStringUtils.randomAlphabetic(10), + RandomStringUtils.randomAlphabetic(10), sourceDto.getId(), project.getId(), provenance, EntityStatus.UNMAPPED)); + } + + + /** + * Test case: + * - Get from Zooma at least 1 high confidence response; Ontology matches preferred. OLS returns the same IRI. + * -- Expect: mapping to be created. Number of mapping suggestions = number of ontology terms 'created' + */ + @Test + public void testCase1() { + String iri1 = "http://www.orpha.net/ORDO/Orphanet_15"; + String iri2 = "http://purl.obolibrary.org/obo/MONDO_0007037"; + + List zoomaResponseDtos = new ArrayList<>(); + zoomaResponseDtos.add(new ZoomaResponseDto(Arrays.asList(new String[]{iri1}), "HIGH")); + zoomaResponseDtos.add(new ZoomaResponseDto(Arrays.asList(new String[]{iri2}), "GOOD")); + + when(zoomaService.annotate(eq(entity.getName()), any(), any())).thenReturn(zoomaResponseDtos); + + when(olsService.retrieveTerms(eq(CurationUtil.ontoFromIRI(iri1)), eq(iri1))).thenReturn( + Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri1, "Orphanet:15", "Achondroplasia", false)}) + ); + when(olsService.retrieveTerms(eq(CurationUtil.ontoFromIRI(iri2)), eq(iri2))).thenReturn( + Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri2, "MONDO:0007037", "achondroplasia", false)}) + ); + + matchmakerService.runMatchmaking(sourceDto.getId(), project); + + Entity updated = entityService.retrieveEntity(entity.getId()); + assertEquals(EntityStatus.AUTO_MAPPED, updated.getMappingStatus()); + + List ontologyTerms = ontologyTermService.retrieveAllTerms(); + assertEquals(2, ontologyTerms.size()); + Map ontoMap = new HashMap<>(); + for (OntologyTerm ontologyTerm : ontologyTerms) { + ontoMap.put(ontologyTerm.getCurie(), ontologyTerm); + } + assertTrue(ontoMap.containsKey("Orphanet:15")); + assertTrue(ontoMap.containsKey("MONDO:0007037")); + + Map> mappingSuggestionMap = mappingSuggestionsService.retrieveMappingSuggestionsForEntities(Arrays.asList(new String[]{entity.getId()})); + assertEquals(1, mappingSuggestionMap.size()); + List mappingSuggestions = mappingSuggestionMap.get(entity.getId()); + assertEquals(2, mappingSuggestions.size()); + + Map> mappingMap = mappingService.retrieveMappingsForEntities(Arrays.asList(new String[]{entity.getId()})); + assertEquals(1, mappingMap.size()); + List mappings = mappingMap.get(entity.getId()); + assertEquals(1, mappings.size()); + } + + /** + * Test case: + * - Get from Zooma at least 1 high confidence response; Ontology matches preferred. OLS returns a different IRI - not in high confidence. + * -- Expect: No mapping created. Number of mapping suggestions = number of ontology terms 'created' + */ + @Test + public void testCase2() { + String iri1 = "http://www.orpha.net/ORDO/Orphanet_15"; + String iri2 = "http://purl.obolibrary.org/obo/MONDO_0007037"; + String iri3 = "http://purl.obolibrary.org/obo/ICD_12356"; + + List zoomaResponseDtos = new ArrayList<>(); + zoomaResponseDtos.add(new ZoomaResponseDto(Arrays.asList(new String[]{iri1}), "HIGH")); + zoomaResponseDtos.add(new ZoomaResponseDto(Arrays.asList(new String[]{iri2}), "GOOD")); + + when(zoomaService.annotate(eq(entity.getName()), any(), any())).thenReturn(zoomaResponseDtos); + + when(olsService.retrieveTerms(eq(CurationUtil.ontoFromIRI(iri1)), eq(iri1))).thenReturn( + Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri3, "ICD:12356", "Pseudo-achondroplasia", false)}) + ); + when(olsService.retrieveTerms(eq(CurationUtil.ontoFromIRI(iri2)), eq(iri2))).thenReturn( + Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri2, "MONDO:0007037", "ACH", false)}) + ); + + matchmakerService.runMatchmaking(sourceDto.getId(), project); + + Entity updated = entityService.retrieveEntity(entity.getId()); + assertEquals(EntityStatus.SUGGESTIONS_PROVIDED, updated.getMappingStatus()); + + List ontologyTerms = ontologyTermService.retrieveAllTerms(); + assertEquals(2, ontologyTerms.size()); + Map ontoMap = new HashMap<>(); + for (OntologyTerm ontologyTerm : ontologyTerms) { + ontoMap.put(ontologyTerm.getCurie(), ontologyTerm); + } + assertTrue(ontoMap.containsKey("ICD:12356")); + assertTrue(ontoMap.containsKey("MONDO:0007037")); + + Map> mappingSuggestionMap = mappingSuggestionsService.retrieveMappingSuggestionsForEntities(Arrays.asList(new String[]{entity.getId()})); + assertEquals(1, mappingSuggestionMap.size()); + List mappingSuggestions = mappingSuggestionMap.get(entity.getId()); + assertEquals(2, mappingSuggestions.size()); + + Map> mappingMap = mappingService.retrieveMappingsForEntities(Arrays.asList(new String[]{entity.getId()})); + assertEquals(0, mappingMap.size()); + } + + /** + * Test case: + * - Get from Zooma at least 1 high confidence response; Ontology does not match preferred. + * -- Expect: No mapping created. Number of mapping suggestions = number of ontology terms 'created' + */ + @Test + public void testCase3() { + String iri1 = "http://www.orpha.net/ORDO/Orphanet_15"; + String iri2 = "http://purl.obolibrary.org/obo/MONDO_0007037"; + + List zoomaResponseDtos = new ArrayList<>(); + zoomaResponseDtos.add(new ZoomaResponseDto(Arrays.asList(new String[]{iri1}), "HIGH")); + zoomaResponseDtos.add(new ZoomaResponseDto(Arrays.asList(new String[]{iri2}), "GOOD")); + + when(zoomaService.annotate(eq(entity.getName()), any(), any())).thenReturn(zoomaResponseDtos); + + when(olsService.retrieveTerms(eq(CurationUtil.ontoFromIRI(iri1)), eq(iri1))).thenReturn( + Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri1, "Orphanet:15", "Achondroplasia", false)}) + ); + when(olsService.retrieveTerms(eq(CurationUtil.ontoFromIRI(iri2)), eq(iri2))).thenReturn( + Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri2, "MONDO:0007037", "ACH", false)}) + ); + + this.ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp"}); + this.project.setOntologies(Arrays.asList(new ProjectMappingConfig[]{new ProjectMappingConfig(ProjectMappingConfig.ALL, this.ontologies)})); + this.projectService.updateProject(this.project, this.project.getId(), this.user1); + + matchmakerService.runMatchmaking(sourceDto.getId(), project); + + Entity updated = entityService.retrieveEntity(entity.getId()); + assertEquals(EntityStatus.SUGGESTIONS_PROVIDED, updated.getMappingStatus()); + + List ontologyTerms = ontologyTermService.retrieveAllTerms(); + assertEquals(1, ontologyTerms.size()); + Map ontoMap = new HashMap<>(); + for (OntologyTerm ontologyTerm : ontologyTerms) { + ontoMap.put(ontologyTerm.getCurie(), ontologyTerm); + } + assertEquals("MONDO:0007037", ontologyTerms.get(0).getCurie()); + + Map> mappingSuggestionMap = mappingSuggestionsService.retrieveMappingSuggestionsForEntities(Arrays.asList(new String[]{entity.getId()})); + assertEquals(1, mappingSuggestionMap.size()); + List mappingSuggestions = mappingSuggestionMap.get(entity.getId()); + assertEquals(1, mappingSuggestions.size()); + + Map> mappingMap = mappingService.retrieveMappingsForEntities(Arrays.asList(new String[]{entity.getId()})); + assertEquals(0, mappingMap.size()); + } + + /** + * Test case: + * - Get from Zooma no high confidence responses; Label matches + * -- Expect: mapping to be created. Number of mapping suggestions = number of ontology terms 'created' + */ + @Test + public void testCase4() { + String iri1 = "http://www.orpha.net/ORDO/Orphanet_15"; + String iri2 = "http://purl.obolibrary.org/obo/MONDO_0007037"; + + List zoomaResponseDtos = new ArrayList<>(); + zoomaResponseDtos.add(new ZoomaResponseDto(Arrays.asList(new String[]{iri1}), "GOOD")); + zoomaResponseDtos.add(new ZoomaResponseDto(Arrays.asList(new String[]{iri2}), "GOOD")); + + when(zoomaService.annotate(eq(entity.getName()), any(), any())).thenReturn(zoomaResponseDtos); + + when(olsService.retrieveTerms(eq(CurationUtil.ontoFromIRI(iri1)), eq(iri1))).thenReturn( + Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri1, "Orphanet:15", "Achondroplasia", false)}) + ); + when(olsService.retrieveTerms(eq(CurationUtil.ontoFromIRI(iri2)), eq(iri2))).thenReturn( + Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri2, "MONDO:0007037", "ACH", false)}) + ); + + matchmakerService.runMatchmaking(sourceDto.getId(), project); + + Entity updated = entityService.retrieveEntity(entity.getId()); + assertEquals(EntityStatus.AUTO_MAPPED, updated.getMappingStatus()); + + List ontologyTerms = ontologyTermService.retrieveAllTerms(); + assertEquals(2, ontologyTerms.size()); + Map ontoMap = new HashMap<>(); + for (OntologyTerm ontologyTerm : ontologyTerms) { + ontoMap.put(ontologyTerm.getCurie(), ontologyTerm); + } + assertTrue(ontoMap.containsKey("Orphanet:15")); + assertTrue(ontoMap.containsKey("MONDO:0007037")); + + Map> mappingSuggestionMap = mappingSuggestionsService.retrieveMappingSuggestionsForEntities(Arrays.asList(new String[]{entity.getId()})); + assertEquals(1, mappingSuggestionMap.size()); + List mappingSuggestions = mappingSuggestionMap.get(entity.getId()); + assertEquals(2, mappingSuggestions.size()); + + Map> mappingMap = mappingService.retrieveMappingsForEntities(Arrays.asList(new String[]{entity.getId()})); + assertEquals(1, mappingMap.size()); + List mappings = mappingMap.get(entity.getId()); + assertEquals(1, mappings.size()); + } + + /** + * Test case: + * - Get from Zooma no high confidence responses; Label does not match + * -- Expect: No mapping created. Number of mapping suggestions = number of ontology terms 'created' + */ + @Test + public void testCase5() { + String iri1 = "http://www.orpha.net/ORDO/Orphanet_15"; + String iri2 = "http://purl.obolibrary.org/obo/MONDO_0007037"; + + List zoomaResponseDtos = new ArrayList<>(); + zoomaResponseDtos.add(new ZoomaResponseDto(Arrays.asList(new String[]{iri1}), "GOOD")); + zoomaResponseDtos.add(new ZoomaResponseDto(Arrays.asList(new String[]{iri2}), "GOOD")); + + when(zoomaService.annotate(eq(entity.getName()), any(), any())).thenReturn(zoomaResponseDtos); + + when(olsService.retrieveTerms(eq(CurationUtil.ontoFromIRI(iri1)), eq(iri1))).thenReturn( + Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri1, "Orphanet:15", "Pseudo-achondroplasia", false)}) + ); + when(olsService.retrieveTerms(eq(CurationUtil.ontoFromIRI(iri2)), eq(iri2))).thenReturn( + Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri2, "MONDO:0007037", "ACH", false)}) + ); + + matchmakerService.runMatchmaking(sourceDto.getId(), project); + + Entity updated = entityService.retrieveEntity(entity.getId()); + assertEquals(EntityStatus.SUGGESTIONS_PROVIDED, updated.getMappingStatus()); + + List ontologyTerms = ontologyTermService.retrieveAllTerms(); + assertEquals(2, ontologyTerms.size()); + Map ontoMap = new HashMap<>(); + for (OntologyTerm ontologyTerm : ontologyTerms) { + ontoMap.put(ontologyTerm.getCurie(), ontologyTerm); + } + assertTrue(ontoMap.containsKey("Orphanet:15")); + assertTrue(ontoMap.containsKey("MONDO:0007037")); + + Map> mappingSuggestionMap = mappingSuggestionsService.retrieveMappingSuggestionsForEntities(Arrays.asList(new String[]{entity.getId()})); + assertEquals(1, mappingSuggestionMap.size()); + List mappingSuggestions = mappingSuggestionMap.get(entity.getId()); + assertEquals(2, mappingSuggestions.size()); + + Map> mappingMap = mappingService.retrieveMappingsForEntities(Arrays.asList(new String[]{entity.getId()})); + assertEquals(0, mappingMap.size()); + } +} From a65c00636ead505ca9ef28405af3b6115d76cd07 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Thu, 4 Mar 2021 18:13:10 +0800 Subject: [PATCH 30/72] Increased test coverage for all edge-case scenarios. --- .../controller/OntologyTermController.java | 9 +- .../service/impl/ProjectServiceImpl.java | 5 +- .../ontotools/curation/DataImportTest.java | 32 +++ .../curation/EntityControllerTest.java | 30 ++- .../ontotools/curation/IntegrationTest.java | 4 + .../MappingCommentsControllerTest.java | 38 +++- .../MappingReviewsControllerTest.java | 71 +++++++ .../curation/MappingsControllerTest.java | 53 ++++- .../curation/OntologyTermControllerTest.java | 34 ++++ .../curation/PlatformAdminControllerTest.java | 18 +- .../curation/ProjectsControllerTest.java | 88 ++++++++- .../curation/SourcesControllerTest.java | 71 +++++++ .../curation/UsersControllerTest.java | 184 ++++++++++++++++++ 13 files changed, 624 insertions(+), 13 deletions(-) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/OntologyTermController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/OntologyTermController.java index af0d442..9e683ce 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/OntologyTermController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/OntologyTermController.java @@ -7,17 +7,20 @@ import org.springframework.http.MediaType; import org.springframework.web.bind.annotation.*; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; -import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.rest.assembler.OntologyTermDtoAssembler; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.OntologyTermDto; import uk.ac.ebi.spot.ontotools.curation.service.JWTService; import uk.ac.ebi.spot.ontotools.curation.service.OntologyTermService; +import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; import uk.ac.ebi.spot.ontotools.curation.util.HeadersUtil; import javax.servlet.http.HttpServletRequest; import javax.validation.Valid; +import java.util.Arrays; @RestController @RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) @@ -31,6 +34,9 @@ public class OntologyTermController { @Autowired private OntologyTermService ontologyTermService; + @Autowired + private ProjectService projectService; + /** * POST /v1/projects/{projectId}/ontology-terms */ @@ -41,6 +47,7 @@ public class OntologyTermController { public OntologyTermDto createOntologyTerm(@PathVariable String projectId, @RequestBody @Valid OntologyTermDto ontologyTermDto, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to create ontology term: {} | {}", user.getEmail(), projectId, ontologyTermDto.getCurie()); + projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR})); OntologyTerm created = ontologyTermService.createTerm(OntologyTermDtoAssembler.disassemble(ontologyTermDto)); return OntologyTermDtoAssembler.assemble(created); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java index 9ddb371..c12cd13 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java @@ -8,7 +8,6 @@ import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.domain.auth.Role; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; -import uk.ac.ebi.spot.ontotools.curation.exception.AuthorizationException; import uk.ac.ebi.spot.ontotools.curation.exception.EntityNotFoundException; import uk.ac.ebi.spot.ontotools.curation.repository.ProjectRepository; import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; @@ -62,7 +61,7 @@ public Project updateProject(Project project, String projectId, User user) { return projectRepository.save(existing); } else { log.error("User [{}] cannot change project [{}]. Required access is missing.", user.getEmail(), projectId); - throw new AuthorizationException("User [" + user.getEmail() + "] cannot change project [" + projectId + "]. Required access is missing."); + throw new EntityNotFoundException("No project [" + projectId + "] found for user [" + user.getEmail() + "]"); } } @@ -83,7 +82,7 @@ public void deleteProject(String projectId, User user) { */ } else { log.error("User [{}] cannot delete project [{}]. Required access is missing.", user.getEmail(), projectId); - throw new AuthorizationException("User [" + user.getEmail() + "] cannot delete project [" + projectId + "]. Required access is missing."); + throw new EntityNotFoundException("No project [" + projectId + "] found for user [" + user.getEmail() + "]"); } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/DataImportTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/DataImportTest.java index f3ced04..cf8ccce 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/DataImportTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/DataImportTest.java @@ -9,6 +9,7 @@ import org.springframework.test.web.servlet.request.MockMvcRequestBuilders; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; import uk.ac.ebi.spot.ontotools.curation.repository.EntityRepository; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; @@ -16,6 +17,7 @@ import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; import java.io.InputStream; +import java.util.Arrays; import static org.junit.Assert.assertEquals; import static org.mockito.ArgumentMatchers.any; @@ -62,4 +64,34 @@ public void shouldImportData() throws Exception { assertEquals(12443, entityRepository.findAll().size()); } + @Test + public void shouldNotImportData() throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + + CurationConstants.API_SOURCES + "/" + sourceDto.getId() + CurationConstants.API_UPLOAD; + + InputStream fileAsStream = new ClassPathResource("import_test.json").getInputStream(); + MockMultipartFile testFile = new MockMultipartFile("file", "import_test.json", + ContentType.APPLICATION_JSON.getMimeType(), fileAsStream); + + mockMvc.perform(MockMvcRequestBuilders.multipart(endpoint) + .file(testFile) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + @Test + public void shouldNotImportDataAsConsumer() throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + + CurationConstants.API_SOURCES + "/" + sourceDto.getId() + CurationConstants.API_UPLOAD; + userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); + + InputStream fileAsStream = new ClassPathResource("import_test.json").getInputStream(); + MockMultipartFile testFile = new MockMultipartFile("file", "import_test.json", + ContentType.APPLICATION_JSON.getMimeType(), fileAsStream); + + mockMvc.perform(MockMvcRequestBuilders.multipart(endpoint) + .file(testFile) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java index 8e44259..17f1c8b 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java @@ -10,7 +10,10 @@ import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; import uk.ac.ebi.spot.ontotools.curation.domain.Project; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.*; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.EntityDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.RestResponsePage; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingSuggestionDto; import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; import uk.ac.ebi.spot.ontotools.curation.service.UserService; @@ -129,4 +132,29 @@ public void shouldGetEntity() throws Exception { assertEquals(2, foundCuries); assertEquals(sourceDto.getId(), actual.getSource().getId()); } + + /** + * GET /v1/projects/{projectId}/entities + */ + @Test + public void shouldNotGetEntities() throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_ENTITIES; + mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * GET /v1/projects/{projectId}/entities/{entityId} + */ + @Test + public void shouldNotGetEntity() throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_ENTITIES + "/" + entity.getId(); + mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index 89740c4..c131ede 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -32,6 +32,7 @@ import uk.ac.ebi.spot.ontotools.curation.rest.dto.*; import uk.ac.ebi.spot.ontotools.curation.service.MatchmakerService; import uk.ac.ebi.spot.ontotools.curation.service.OLSService; +import uk.ac.ebi.spot.ontotools.curation.service.UserService; import uk.ac.ebi.spot.ontotools.curation.service.ZoomaService; import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; @@ -111,6 +112,9 @@ public OLSService olsService() { @Autowired private EntityRepository entityRepository; + @Autowired + protected UserService userService; + protected MockMvc mockMvc; protected ObjectMapper mapper; diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingCommentsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingCommentsControllerTest.java index e81007c..ccf5d41 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingCommentsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingCommentsControllerTest.java @@ -61,7 +61,7 @@ public void setup() throws Exception { * POST /v1/projects/{projectId}/mappings/{mappingId}/comments */ @Test - public void shouldCreateReview() throws Exception { + public void shouldCreateComment() throws Exception { EntityDto actual = super.retrieveEntity(project.getId()); MappingDto mappingDto = actual.getMappings().get(0); @@ -88,7 +88,7 @@ public void shouldCreateReview() throws Exception { * GET /v1/projects/{projectId}/mappings/{mappingId}/comments */ @Test - public void shouldGetReviews() throws Exception { + public void shouldGetComments() throws Exception { EntityDto actual = super.retrieveEntity(project.getId()); MappingDto mappingDto = actual.getMappings().get(0); mappingService.addCommentToMapping(mappingDto.getId(), "New comment", ProvenanceDtoAssembler.disassemble(mappingDto.getCreated())); @@ -108,4 +108,38 @@ public void shouldGetReviews() throws Exception { assertEquals(1, commentDtos.size()); assertEquals("New comment", commentDtos.get(0).getBody()); } + + /** + * POST /v1/projects/{projectId}/mappings/{mappingId}/comments + */ + @Test + public void shouldNotCreateComment() throws Exception { + EntityDto actual = super.retrieveEntity(project.getId()); + MappingDto mappingDto = actual.getMappings().get(0); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId() + CurationConstants.API_COMMENTS; + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content("New comment") + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * GET /v1/projects/{projectId}/mappings/{mappingId}/comments + */ + @Test + public void shouldNotGetComments() throws Exception { + EntityDto actual = super.retrieveEntity(project.getId()); + MappingDto mappingDto = actual.getMappings().get(0); + mappingService.addCommentToMapping(mappingDto.getId(), "New comment", ProvenanceDtoAssembler.disassemble(mappingDto.getCreated())); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId() + CurationConstants.API_COMMENTS; + mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java index eab0332..5b634dc 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java @@ -8,6 +8,7 @@ import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; import uk.ac.ebi.spot.ontotools.curation.rest.assembler.ProvenanceDtoAssembler; @@ -138,4 +139,74 @@ public void shouldGetReviews() throws Exception { assertEquals(1, reviewDtos.size()); assertEquals("New review", reviewDtos.get(0).getComment()); } + + /** + * POST /v1/projects/{projectId}/mappings/{mappingId}/reviews + */ + @Test + public void shouldNotCreateReview() throws Exception { + EntityDto actual = super.retrieveEntity(project.getId()); + MappingDto mappingDto = actual.getMappings().get(0); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId() + CurationConstants.API_REVIEWS; + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content("New review") + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * GET /v1/projects/{projectId}/mappings/{mappingId}/reviews + */ + @Test + public void shouldNotGetReviews() throws Exception { + EntityDto actual = super.retrieveEntity(project.getId()); + MappingDto mappingDto = actual.getMappings().get(0); + mappingService.addReviewToMapping(mappingDto.getId(), "New review", 3, ProvenanceDtoAssembler.disassemble(mappingDto.getCreated())); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId() + CurationConstants.API_REVIEWS; + mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * POST /v1/projects/{projectId}/mappings/{mappingId}/reviews + */ + @Test + public void shouldNotCreateReviewAsConsumer() throws Exception { + EntityDto actual = super.retrieveEntity(project.getId()); + MappingDto mappingDto = actual.getMappings().get(0); + userService.addUserToProject(super.user2, project.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId() + CurationConstants.API_REVIEWS; + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content("New review") + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * GET /v1/projects/{projectId}/mappings/{mappingId}/reviews + */ + @Test + public void shouldNotGetReviewsAsConsumer() throws Exception { + EntityDto actual = super.retrieveEntity(project.getId()); + MappingDto mappingDto = actual.getMappings().get(0); + mappingService.addReviewToMapping(mappingDto.getId(), "New review", 3, ProvenanceDtoAssembler.disassemble(mappingDto.getCreated())); + userService.addUserToProject(super.user2, project.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId() + CurationConstants.API_REVIEWS; + mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java index 2432003..cedba69 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java @@ -5,10 +5,7 @@ import org.springframework.beans.factory.annotation.Autowired; import org.springframework.http.MediaType; import org.springframework.test.context.ContextConfiguration; -import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; -import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; -import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; -import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; +import uk.ac.ebi.spot.ontotools.curation.constants.*; import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.rest.dto.EntityDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; @@ -133,4 +130,52 @@ public void shouldCreateMapping() throws Exception { assertEquals(sourceDto.getId(), actual.getSource().getId()); } + /** + * POST /v1/projects/{projectId}/mappings + */ + @Test + public void shouldNotCreateMapping() throws Exception { + EntityDto entityDto = super.retrieveEntity(project.getId()); + OntologyTermDto ontologyTermDto = null; + for (MappingSuggestionDto mappingSuggestionDto : entityDto.getMappingSuggestions()) { + if (mappingSuggestionDto.getOntologyTerm().getCurie().equalsIgnoreCase("MONDO:0007037")) { + ontologyTermDto = mappingSuggestionDto.getOntologyTerm(); + break; + } + } + assertNotNull(ontologyTermDto); + MappingCreationDto mappingCreationDto = new MappingCreationDto(entityDto.getId(), ontologyTermDto); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS; + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(mappingCreationDto)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * POST /v1/projects/{projectId}/mappings + */ + @Test + public void shouldNotCreateMappingAsConsumer() throws Exception { + EntityDto entityDto = super.retrieveEntity(project.getId()); + OntologyTermDto ontologyTermDto = null; + for (MappingSuggestionDto mappingSuggestionDto : entityDto.getMappingSuggestions()) { + if (mappingSuggestionDto.getOntologyTerm().getCurie().equalsIgnoreCase("MONDO:0007037")) { + ontologyTermDto = mappingSuggestionDto.getOntologyTerm(); + break; + } + } + assertNotNull(ontologyTermDto); + MappingCreationDto mappingCreationDto = new MappingCreationDto(entityDto.getId(), ontologyTermDto); + userService.addUserToProject(super.user2, project.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS; + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(mappingCreationDto)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntologyTermControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntologyTermControllerTest.java index f9fa42a..0921a68 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntologyTermControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntologyTermControllerTest.java @@ -7,6 +7,7 @@ import org.springframework.test.context.ContextConfiguration; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; import uk.ac.ebi.spot.ontotools.curation.constants.TermStatus; import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; @@ -71,4 +72,37 @@ public void shouldCreateOntologyTerm() throws Exception { assertEquals(TermStatus.NEEDS_IMPORT.toString(), actual.getStatus()); } + + /** + * POST /v1/projects/{projectId}/ontology-terms + */ + @Test + public void shouldNotCreateOntologyTerm() throws Exception { + OntologyTermDto toCreate = new OntologyTermDto("MONDO:0007037", "http://purl.obolibrary.org/obo/MONDO_0007037", + "Achondroplasia", null, null, null); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_ONTOLOGY_TERMS; + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(toCreate)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * POST /v1/projects/{projectId}/ontology-terms + */ + @Test + public void shouldNotCreateOntologyTermAsConsumer() throws Exception { + OntologyTermDto toCreate = new OntologyTermDto("MONDO:0007037", "http://purl.obolibrary.org/obo/MONDO_0007037", + "Achondroplasia", null, null, null); + userService.addUserToProject(super.user2, project.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_ONTOLOGY_TERMS; + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(toCreate)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/PlatformAdminControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/PlatformAdminControllerTest.java index 2e811e4..fd87a67 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/PlatformAdminControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/PlatformAdminControllerTest.java @@ -57,7 +57,6 @@ public void shouldUpdateConfig() throws Exception { assertEquals(newMap, actual.getAliases()); } - /** * GET /v1/platform-admin */ @@ -93,4 +92,21 @@ public void shouldNotGetConfigs() throws Exception { .header(IDPConstants.JWT_TOKEN, "token1")) .andExpect(status().isForbidden()); } + + /** + * PUT /v1/platform-admin + */ + @Test + public void shouldNotUpdateConfig() throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PLATFORM_ADMIN; + Map newMap = new HashMap<>(); + newMap.put("orphanet", "ordo"); + newMap.put("efox", "efo"); + ExternalServiceConfigDto toUpdate = new ExternalServiceConfigDto("OLS", newMap); + mockMvc.perform(put(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(toUpdate)) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isForbidden()); + } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java index 3773772..5c3b705 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java @@ -5,6 +5,7 @@ import org.springframework.http.MediaType; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectMappingConfigDto; import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; @@ -52,6 +53,27 @@ public void shouldGetProjects() throws Exception { assertEquals(projectDto.getDescription(), actual.getDescription()); } + /** + * GET /v1/projects + */ + @Test + public void shouldNotGetProjects() throws Exception { + super.createProject("New Project 1", "token1", null, null, null, 0); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS; + String response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + List projectList = mapper.readValue(response, new TypeReference>() { + }); + assertEquals(0, projectList.size()); + } + /** * GET /v1/projects/{projectId} */ @@ -73,6 +95,19 @@ public void shouldGetProject() throws Exception { assertEquals(projectDto.getDescription(), actual.getDescription()); } + /** + * GET /v1/projects/{projectId} + */ + @Test + public void shouldNotGetProject() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); + mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + /** * PUT /v1/projects/{projectId} */ @@ -126,7 +161,32 @@ public void shouldNotUpdateProject() throws Exception { .contentType(MediaType.APPLICATION_JSON) .content(mapper.writeValueAsString(updatedProject)) .header(IDPConstants.JWT_TOKEN, "token2")) - .andExpect(status().isForbidden()); + .andExpect(status().isNotFound()); + } + + /** + * PUT /v1/projects/{projectId} + */ + @Test + public void shouldNotUpdateProjectAsConsumer() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + ProjectDto updatedProject = new ProjectDto(projectDto.getId(), + "New Name", + projectDto.getDescription(), + Arrays.asList(new ProjectMappingConfigDto[]{new ProjectMappingConfigDto("ALL", Arrays.asList(new String[]{"gwas"}))}), + Arrays.asList(new ProjectMappingConfigDto[]{new ProjectMappingConfigDto("ALL", Arrays.asList(new String[]{"ordo"}))}), + projectDto.getPreferredMappingOntologies(), + 0, + projectDto.getCreated()); + + userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); + mockMvc.perform(put(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(updatedProject)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); } /** @@ -145,4 +205,30 @@ public void shouldDeleteProject() throws Exception { .header(IDPConstants.JWT_TOKEN, "token1")) .andExpect(status().isNotFound()); } + + /** + * DELETE /v1/projects/{projectId} + */ + @Test + public void shouldNotDeleteProject() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); + mockMvc.perform(delete(endpoint) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * DELETE /v1/projects/{projectId} + */ + @Test + public void shouldNotDeleteProjectAsConsumer() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); + mockMvc.perform(delete(endpoint) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/SourcesControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/SourcesControllerTest.java index 8d3d13d..f465204 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/SourcesControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/SourcesControllerTest.java @@ -2,17 +2,24 @@ import com.fasterxml.jackson.core.type.TypeReference; import org.junit.Test; +import org.springframework.beans.factory.annotation.Autowired; import org.springframework.http.MediaType; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; +import uk.ac.ebi.spot.ontotools.curation.constants.SourceType; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceCreationDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; +import uk.ac.ebi.spot.ontotools.curation.service.UserService; import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; +import java.util.Arrays; import java.util.List; import static org.junit.Assert.assertEquals; import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.get; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.post; import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; public class SourcesControllerTest extends IntegrationTest { @@ -33,6 +40,44 @@ public void shouldCreateSource() throws Exception { createSource(projectDto.getId()); } + /** + * POST /v1/projects/{projectId}/sources + */ + @Test + public void shouldNotCreateSource() throws Exception { + SourceCreationDto sourceCreationDto = new SourceCreationDto("Source name", + "Description", + null, + SourceType.LOCAL.name()); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_SOURCES; + + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(sourceCreationDto)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * POST /v1/projects/{projectId}/sources + */ + @Test + public void shouldNotCreateSourceAsConsumer() throws Exception { + SourceCreationDto sourceCreationDto = new SourceCreationDto("Source name", + "Description", + null, + SourceType.LOCAL.name()); + + userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_SOURCES; + + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(sourceCreationDto)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + /** * GET /v1/projects/{projectId}/sources */ @@ -57,6 +102,19 @@ public void shouldGetSources() throws Exception { assertEquals(sourceDto.getDescription(), actual.getDescription()); } + /** + * GET /v1/projects/{projectId}/sources + */ + @Test + public void shouldNotGetSources() throws Exception { + super.createSource(projectDto.getId()); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_SOURCES; + mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + /** * GET /v1/projects/{projectId}/sources/{sourceId} */ @@ -77,4 +135,17 @@ public void shouldGetSource() throws Exception { assertEquals(sourceDto.getName(), actual.getName()); assertEquals(sourceDto.getDescription(), actual.getDescription()); } + + /** + * GET /v1/projects/{projectId}/sources/{sourceId} + */ + @Test + public void shouldNotGetSource() throws Exception { + SourceDto sourceDto = super.createSource(projectDto.getId()); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_SOURCES + "/" + sourceDto.getId(); + mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/UsersControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/UsersControllerTest.java index b49d8aa..4960213 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/UsersControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/UsersControllerTest.java @@ -57,6 +57,36 @@ public void shouldNotGetUsersForProject() throws Exception { .andExpect(status().isNotFound()); } + /** + * GET /v1/projects/{projectId}/users + */ + @Test + public void shouldNotGetUsersForProjectAsContributor() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + + userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONTRIBUTOR})); + mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * GET /v1/projects/{projectId}/users + */ + @Test + public void shouldNotGetUsersForProjectAsConsumer() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + + userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); + mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + /** * POST /v1/projects/{projectId}/users */ @@ -123,6 +153,57 @@ public void shouldAddUserToProject() throws Exception { } + /** + * POST /v1/projects/{projectId}/users + */ + @Test + public void shouldNotAddUserToProject() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * POST /v1/projects/{projectId}/users + */ + @Test + public void shouldNotAddUserToProjectAsContributor() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); + + userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONTRIBUTOR})); + + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * POST /v1/projects/{projectId}/users + */ + @Test + public void shouldNotAddUserToProjectAsConsumer() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); + + userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); + + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + /** * PUT /v1/projects/{projectId}/users/{userId} */ @@ -169,6 +250,59 @@ public void shouldUpdateUserToProject() throws Exception { assertEquals(ProjectRole.CONSUMER.name(), actual.getRoles().get(0).getRole()); } + /** + * PUT /v1/projects/{projectId}/users/{userId} + */ + @Test + public void shouldNotUpdateUserToProject() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * PUT /v1/projects/{projectId}/users/{userId} + */ + @Test + public void shouldNotUpdateUserToProjectAsContributor() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); + userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONTRIBUTOR})); + + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * PUT /v1/projects/{projectId}/users/{userId} + */ + @Test + public void shouldNotUpdateUserToProjectAsConsumer() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); + userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); + + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** * DELETE /v1/projects/{projectId}/users/{userId} */ @@ -221,4 +355,54 @@ public void shouldDeleteUserRolesInProject() throws Exception { assertEquals(1, actualList.size()); } + + /** + * DELETE /v1/projects/{projectId}/users/{userId} + */ + @Test + public void shouldNotDeleteUserRolesInProject() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * DELETE /v1/projects/{projectId}/users/{userId} + */ + @Test + public void shouldNotDeleteUserRolesInProjectAsContributor() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); + userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONTRIBUTOR})); + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * DELETE /v1/projects/{projectId}/users/{userId} + */ + @Test + public void shouldNotDeleteUserRolesInProjectAsConsumer() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); + userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } } From 59eee9b1c79a82b4134ddd088faef23c5f6f6767 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Fri, 5 Mar 2021 19:13:16 +0800 Subject: [PATCH 31/72] Refactored code to revert to the original 1-to-1 entity-mapping relationship. --- README.md | 29 +- .../repository/MappingRepository.java | 3 +- .../rest/assembler/EntityDtoAssembler.java | 9 +- .../rest/controller/EntityController.java | 6 +- .../rest/controller/MappingsController.java | 134 ++++----- .../curation/rest/dto/EntityDto.java | 13 +- .../rest/dto/export/ExportEntityDto.java | 12 +- .../curation/service/MappingService.java | 8 +- .../service/impl/EntityDataCollector.java | 16 +- .../impl/ExportExecutorServiceImpl.java | 4 +- .../service/impl/MappingServiceImpl.java | 72 ++--- .../curation/EntityControllerTest.java | 13 +- .../ontotools/curation/IntegrationTest.java | 12 +- .../MappingCommentsControllerTest.java | 17 +- .../MappingReviewsControllerTest.java | 29 +- .../curation/MappingsControllerTest.java | 267 ++++++++---------- .../curation/MatchMakingContolledTest.java | 27 +- .../ontotools/curation/MatchMakingTest.java | 18 +- 18 files changed, 318 insertions(+), 371 deletions(-) diff --git a/README.md b/README.md index a6b3550..d8f4a15 100644 --- a/README.md +++ b/README.md @@ -1 +1,28 @@ -# Future Curation App \ No newline at end of file +# Onto-tools Curation App + +## Requirements to build and run locally + +* Local MongoDB instance running on port `27017` +* Some test credentials and data added to the DB (if authentication is turned on) - see https://github.com/EBISPOT/ontotools-curator/wiki/Test-data +* Alternatively: + * Add at least one `super` user in the DB in the `users` collection: + ``` + { + "name": "Super user", + "email": "ontotools-curator@ebi.ac.uk", + "superUser": true + } + ``` + * Set `ontotools-curation.auth.enabled` to `false` in the `dev` profile in `application.yml` + +### Build package + +* Run `mvn clean install -Dspring.profiles.active=dev` +* Alternatively, introduce in a new profile in `application.yml` and use it as active when building +* At least one active profile has to be specified when building the package + +### Build docker container +* Run the `build.sh` script under `scripts` + +### Run locally +* `java -jar -Dspring.profiles.active=dev target/ontotools-curation-service-*.jar` \ No newline at end of file diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java index bf1eaef..19a05b6 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java @@ -4,9 +4,10 @@ import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; import java.util.List; +import java.util.Optional; public interface MappingRepository extends MongoRepository { List findByEntityIdIn(List entityIds); - List findByEntityId(String entityId); + Optional findByEntityId(String entityId); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java index 89cba97..73217ad 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java @@ -8,14 +8,15 @@ import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingSuggestionDto; +import java.util.ArrayList; import java.util.List; import java.util.stream.Collectors; public class EntityDtoAssembler { - public static EntityDto assemble(Entity entity, SourceDto source, List mappings, List mappingSuggestions) { - List mappingSuggestionDtos = mappingSuggestions.stream().map(MappingSuggestionDtoAssembler::assemble).collect(Collectors.toList()); - List mappingDtos = mappings.stream().map(MappingDtoAssembler::assemble).collect(Collectors.toList()); + public static EntityDto assemble(Entity entity, SourceDto source, Mapping mapping, List mappingSuggestions) { + List mappingSuggestionDtos = mappingSuggestions != null ? mappingSuggestions.stream().map(MappingSuggestionDtoAssembler::assemble).collect(Collectors.toList()) : new ArrayList<>(); + MappingDto mappingDto = mapping != null ? MappingDtoAssembler.assemble(mapping) : null; return new EntityDto(entity.getId(), source, @@ -24,7 +25,7 @@ public static EntityDto assemble(Entity entity, SourceDto source, List entity.getBaseField(), entity.getMappingStatus().name(), mappingSuggestionDtos, - mappingDtos, + mappingDto, ProvenanceDtoAssembler.assemble(entity.getCreated())); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java index 99217c3..3a12ee1 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java @@ -71,7 +71,7 @@ public RestResponsePage getEntities(@PathVariable String projectId, @ Page entities = entityService.retrieveEntitiesForProject(projectId, pageable); List entityIds = entities.get().map(Entity::getId).collect(Collectors.toList()); - Map> mappings = mappingService.retrieveMappingsForEntities(entityIds); + Map mappings = mappingService.retrieveMappingsForEntities(entityIds); Map> mappingSuggestions = mappingSuggestionsService.retrieveMappingSuggestionsForEntities(entityIds); List entityDtos = new ArrayList<>(); for (Entity entity : entities.getContent()) { @@ -92,8 +92,8 @@ public EntityDto getEntity(@PathVariable String projectId, @PathVariable String projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR, ProjectRole.CONSUMER})); Entity entity = entityService.retrieveEntity(entityId); Source source = sourceService.getSource(entity.getSourceId(), projectId); - Map> mappings = mappingService.retrieveMappingsForEntities(Arrays.asList(new String[]{entityId})); + Mapping mapping = mappingService.retrieveMappingForEntity(entityId); Map> mappingSuggestions = mappingSuggestionsService.retrieveMappingSuggestionsForEntities(Arrays.asList(new String[]{entityId})); - return EntityDtoAssembler.assemble(entity, SourceDtoAssembler.assemble(source), mappings.get(entityId), mappingSuggestions.get(entityId)); + return EntityDtoAssembler.assemble(entity, SourceDtoAssembler.assemble(source), mapping, mappingSuggestions.get(entityId)); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java index ce48f8f..4f48ed9 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java @@ -11,27 +11,24 @@ import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; -import uk.ac.ebi.spot.ontotools.curation.domain.Source; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; -import uk.ac.ebi.spot.ontotools.curation.domain.mapping.MappingSuggestion; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; -import uk.ac.ebi.spot.ontotools.curation.rest.assembler.EntityDtoAssembler; -import uk.ac.ebi.spot.ontotools.curation.rest.assembler.SourceDtoAssembler; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.EntityDto; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; +import uk.ac.ebi.spot.ontotools.curation.rest.assembler.MappingDtoAssembler; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingCreationDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.OntologyTermDto; import uk.ac.ebi.spot.ontotools.curation.service.*; import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; import uk.ac.ebi.spot.ontotools.curation.util.HeadersUtil; import javax.servlet.http.HttpServletRequest; import javax.validation.Valid; +import javax.validation.constraints.NotEmpty; +import java.util.ArrayList; import java.util.Arrays; -import java.util.HashMap; import java.util.List; -import java.util.Map; @RestController @RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) @@ -66,27 +63,26 @@ public class MappingsController { @GetMapping(value = "/{projectId}" + CurationConstants.API_MAPPINGS, produces = MediaType.APPLICATION_JSON_VALUE) @ResponseStatus(HttpStatus.OK) - public EntityDto getMappings(@PathVariable String projectId, @RequestParam(value = CurationConstants.PARAM_ENTITY_ID) String entityId, HttpServletRequest request) { + public List getMappings(@PathVariable String projectId, @RequestParam(value = CurationConstants.PARAM_ENTITY_ID) String entityId, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to retrieve mappings: {} | {}", user.getEmail(), projectId, entityId); projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR, ProjectRole.CONSUMER})); Entity entity = entityService.retrieveEntity(entityId); - return packAndSend(entity, projectId); + Mapping mapping = mappingService.retrieveMappingForEntity(entity.getId()); + if (mapping == null) { + return null; + } + return Arrays.asList(new MappingDto[]{MappingDtoAssembler.assemble(mapping)}); } /** * POST /v1/projects/{projectId}/mappings - *

- * Assumptions: - * - Creating a mapping = transforming an existing mapping suggestion into a new mapping. - * - No existing mappings are deleted - * - Originating mapping suggestion is removed */ @PostMapping(value = "/{projectId}" + CurationConstants.API_MAPPINGS, consumes = MediaType.APPLICATION_JSON_VALUE, produces = MediaType.APPLICATION_JSON_VALUE) @ResponseStatus(HttpStatus.CREATED) - public EntityDto createMapping(@PathVariable String projectId, @RequestBody @Valid MappingCreationDto mappingCreationDto, HttpServletRequest request) { + public MappingDto createMapping(@PathVariable String projectId, @RequestBody @Valid MappingCreationDto mappingCreationDto, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to create mapping: {} | {} | {}", user.getEmail(), projectId, mappingCreationDto.getEntityId(), mappingCreationDto.getOntologyTerm()); projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR})); @@ -98,23 +94,16 @@ public EntityDto createMapping(@PathVariable String projectId, @RequestBody @Val /** * Check if a mapping to this term already exists */ - List existingMappings = mappingService.retrieveMappingsForEntity(entity.getId()); - boolean exists = false; - for (Mapping mapping : existingMappings) { - if (mapping.getOntologyTermIds().contains(ontologyTerm.getId())) { - exists = true; - break; - } - } - if (exists) { + Mapping existingMapping = mappingService.retrieveMappingForEntity(entity.getId()); + if (existingMapping != null) { log.warn("[{}] Mapping to term [{}] already exists.", entity.getName(), ontologyTerm.getCurie()); - return packAndSend(entity, projectId); + return MappingDtoAssembler.assemble(existingMapping); } /** * Create new mapping. */ - mappingService.createMapping(entity, ontologyTerm, provenance); + Mapping created = mappingService.createMapping(entity, ontologyTerm, provenance); /** * Updating mapping status to MANUAL. @@ -125,91 +114,84 @@ public EntityDto createMapping(@PathVariable String projectId, @RequestBody @Val * Deleting mapping suggestions associated with the current ontology term. */ mappingSuggestionsService.deleteMappingSuggestions(entity.getId(), ontologyTerm.getId()); - - return packAndSend(entity, projectId); + return MappingDtoAssembler.assemble(created); } /** * PUT /v1/projects/{projectId}/mappings/{mappingId} - *

- * Assumptions: - * - Updating a mapping = adding an additional ontology term from a mapping suggestion to an existing mapping - * - No existing mappings are deleted - * - Originating mapping suggestion is removed */ @PutMapping(value = "/{projectId}" + CurationConstants.API_MAPPINGS + "/{mappingId}", consumes = MediaType.APPLICATION_JSON_VALUE, produces = MediaType.APPLICATION_JSON_VALUE) @ResponseStatus(HttpStatus.OK) - public EntityDto updateMapping(@PathVariable String projectId, @PathVariable String mappingId, @RequestBody @Valid MappingCreationDto mappingCreationDto, HttpServletRequest request) { + public MappingDto updateMapping(@PathVariable String projectId, @PathVariable String mappingId, @RequestBody @NotEmpty @Valid List ontologyTermsDtos, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); - log.info("[{}] Request to update mapping [{} - {}]: {} | {}", user.getEmail(), projectId, mappingId, mappingCreationDto.getEntityId(), mappingCreationDto.getOntologyTerm()); + log.info("[{}] Request to update mapping [{} | {}]: {}", user.getEmail(), projectId, mappingId, ontologyTermsDtos); projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR})); Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); - Entity entity = entityService.retrieveEntity(mappingCreationDto.getEntityId()); - OntologyTerm ontologyTerm = ontologyTermService.retrieveTermByCurie(mappingCreationDto.getOntologyTerm().getCurie()); - - /** - * Check if a different mapping to this term already exists - */ - List existingMappings = mappingService.retrieveMappingsForEntity(entity.getId()); - boolean exists = false; - for (Mapping mapping : existingMappings) { - if (mapping.getOntologyTermIds().contains(ontologyTerm.getId())) { - exists = true; - break; - } + List ontologyTermIds = new ArrayList<>(); + List ontologyTerms = new ArrayList<>(); + for (OntologyTermDto ontologyTermDto : ontologyTermsDtos) { + OntologyTerm ontologyTerm = ontologyTermService.retrieveTermByCurie(ontologyTermDto.getCurie()); + ontologyTermIds.add(ontologyTerm.getId()); + ontologyTerms.add(ontologyTerm); } - if (exists) { - log.warn("[{}] Mapping to term [{}] already exists.", entity.getName(), ontologyTerm.getCurie()); - return packAndSend(entity, projectId); + Mapping existing = mappingService.retrieveMappingById(mappingId); + List existingOntoIds = existing.getOntologyTermIds(); + Mapping updated = mappingService.updateMapping(mappingId, ontologyTermIds); + + List old = new ArrayList<>(); + for (String oId : existingOntoIds) { + if (!ontologyTermIds.contains(oId)) { + old.add(ontologyTermService.retrieveTermById(oId)); + } } - /** - * Update mapping. - */ - mappingService.updateMapping(mappingId, ontologyTerm, provenance); - /** * Updating mapping status to MANUAL. */ + Entity entity = entityService.retrieveEntity(updated.getEntityId()); entity = entityService.updateMappingStatus(entity, EntityStatus.MANUALLY_MAPPED); /** - * Deleting mapping suggestions associated with the current ontology term. + * Deleting mapping suggestions associated with the new ontology terms */ - mappingSuggestionsService.deleteMappingSuggestions(entity.getId(), ontologyTerm.getId()); + for (String oId : ontologyTermIds) { + mappingSuggestionsService.deleteMappingSuggestions(entity.getId(), oId); + } + /** + * Create mapping suggestions associated with the old ontology terms + */ + for (OntologyTerm ontologyTerm : old) { + mappingSuggestionsService.createMappingSuggestion(entity, ontologyTerm, provenance); + } - return packAndSend(entity, projectId); + updated.setOntologyTerms(ontologyTerms); + return MappingDtoAssembler.assemble(updated); } /** - * DELETE /v1/projects/{projectId}/mappings/{mappingId}?curie= - *

- * Assumptions: - * - Delete entire mapping when curie is missing - * - Delete only mapping to curie when this is present - * - Convert all removed curies to mapping suggestions + * DELETE /v1/projects/{projectId}/mappings/{mappingId} */ @DeleteMapping(value = "/{projectId}" + CurationConstants.API_MAPPINGS + "/{mappingId}") @ResponseStatus(HttpStatus.OK) public void deleteMapping(@PathVariable String projectId, @PathVariable String mappingId, - @RequestParam(value = CurationConstants.PARAM_CURIE, required = false) String curie, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); - log.info("[{}] Request to delete mapping [{} - {}]: {}", user.getEmail(), projectId, mappingId, curie); + log.info("[{}] Request to delete mapping [{}]: {}", user.getEmail(), projectId, mappingId); projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR})); Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); Mapping mapping = mappingService.retrieveMappingById(mappingId); Entity entity = entityService.retrieveEntity(mapping.getEntityId()); + List ontoTermIds = mapping.getOntologyTermIds(); /** * Delete mapping. */ - OntologyTerm ontoTerm = curie != null ? ontologyTermService.retrieveTermByCurie(curie) : null; - List ontoTermIds = mappingService.deleteMapping(mappingId, ontoTerm != null ? ontoTerm.getId() : null, provenance); + mappingService.deleteMapping(mappingId); + entity = entityService.updateMappingStatus(entity, EntityStatus.SUGGESTIONS_PROVIDED); /** * Re-create mapping suggestions. @@ -221,16 +203,4 @@ public void deleteMapping(@PathVariable String projectId, @PathVariable String m } - private EntityDto packAndSend(Entity entity, String projectId) { - List sources = sourceService.getSources(projectId); - Map sourceMap = new HashMap<>(); - for (Source source : sources) { - sourceMap.put(source.getId(), SourceDtoAssembler.assemble(source)); - } - List mappings = mappingService.retrieveMappingsForEntity(entity.getId()); - List mappingSuggestions = mappingSuggestionsService.retrieveMappingSuggestionsForEntity(entity.getId()); - return EntityDtoAssembler.assemble(entity, sourceMap.get(entity.getSourceId()), mappings, mappingSuggestions); - - } - } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java index d3c8d1b..dc42889 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java @@ -42,8 +42,8 @@ public final class EntityDto implements Serializable { @JsonProperty("mappingSuggestions") private final List mappingSuggestions; - @JsonProperty("mappings") - private final List mappings; + @JsonProperty("mapping") + private final MappingDto mapping; @JsonCreator public EntityDto(@JsonProperty("id") String id, @@ -53,7 +53,7 @@ public EntityDto(@JsonProperty("id") String id, @JsonProperty("upstreamField") String upstreamField, @JsonProperty("mappingStatus") String mappingStatus, @JsonProperty("mappingSuggestions") List mappingSuggestions, - @JsonProperty("mappings") List mappings, + @JsonProperty("mapping") MappingDto mapping, @JsonProperty("created") ProvenanceDto created) { this.id = id; this.source = source; @@ -62,7 +62,7 @@ public EntityDto(@JsonProperty("id") String id, this.upstreamField = upstreamField; this.mappingStatus = mappingStatus; this.mappingSuggestions = mappingSuggestions; - this.mappings = mappings; + this.mapping = mapping; this.created = created; } @@ -90,8 +90,9 @@ public List getMappingSuggestions() { return mappingSuggestions; } - public List getMappings() { - return mappings; + + public MappingDto getMapping() { + return mapping; } public String getUpstreamId() { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportEntityDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportEntityDto.java index 26b4a20..598e3ae 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportEntityDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportEntityDto.java @@ -26,20 +26,20 @@ public final class ExportEntityDto implements Serializable { @JsonProperty("mappingSuggestions") private final List mappingSuggestions; - @JsonProperty("mappings") - private final List mappings; + @JsonProperty("mapping") + private final ExportMappingDto mapping; @JsonCreator public ExportEntityDto(@JsonProperty("name") String name, @JsonProperty("upstreamId") String upstreamId, @JsonProperty("upstreamField") String upstreamField, @JsonProperty("mappingSuggestions") List mappingSuggestions, - @JsonProperty("mappings") List mappings) { + @JsonProperty("mapping") ExportMappingDto mapping) { this.name = name; this.upstreamId = upstreamId; this.upstreamField = upstreamField; this.mappingSuggestions = mappingSuggestions; - this.mappings = mappings; + this.mapping = mapping; } public String getName() { @@ -59,7 +59,7 @@ public List getMappingSuggestions() { return mappingSuggestions; } - public List getMappings() { - return mappings; + public ExportMappingDto getMapping() { + return mapping; } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java index 1af6ec2..8ed513a 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java @@ -12,9 +12,9 @@ public interface MappingService { Mapping createMapping(Entity entity, OntologyTerm ontologyTerm, Provenance provenance); - Map> retrieveMappingsForEntities(List entityIds); + Map retrieveMappingsForEntities(List entityIds); - List retrieveMappingsForEntity(String entityId); + Mapping retrieveMappingForEntity(String entityId); Mapping addReviewToMapping(String mappingId, String comment, int noReviewsRequired, Provenance provenance); @@ -22,7 +22,7 @@ public interface MappingService { Mapping addCommentToMapping(String mappingId, String body, Provenance provenance); - void updateMapping(String mappingId, OntologyTerm ontologyTerm, Provenance provenance); + Mapping updateMapping(String mappingId, List ontologyTermIds); - List deleteMapping(String mappingId, String ontoTermId, Provenance provenance); + void deleteMapping(String mappingId); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityDataCollector.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityDataCollector.java index 989bb73..67fbda5 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityDataCollector.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityDataCollector.java @@ -34,16 +34,14 @@ public EntityDataCollector(String projectId) { this.exportEntityDtos = new ArrayList<>(); } - public void add(Entity entity, List mappingList, List mappingSuggestionList) { + public void add(Entity entity, Mapping mapping, List mappingSuggestionList) { List mappingSuggestions = new ArrayList<>(); - List mappings = new ArrayList<>(); + ExportMappingDto exportMappingDto = null; - if (mappingList != null) { - for (Mapping mapping : mappingList) { - List ontologyTermDtos = mapping.getOntologyTerms().stream().map(OntologyTermDtoAssembler::assemble).collect(Collectors.toList()); - mappings.add(new ExportMappingDto(ontologyTermDtos, mapping.isReviewed(), - mapping.getStatus(), ProvenanceDtoAssembler.assemble(mapping.getCreated()))); - } + if (mapping != null) { + List ontologyTermDtos = mapping.getOntologyTerms().stream().map(OntologyTermDtoAssembler::assemble).collect(Collectors.toList()); + exportMappingDto = new ExportMappingDto(ontologyTermDtos, mapping.isReviewed(), + mapping.getStatus(), ProvenanceDtoAssembler.assemble(mapping.getCreated())); } if (mappingSuggestionList != null) { for (MappingSuggestion mappingSuggestion : mappingSuggestionList) { @@ -56,7 +54,7 @@ public void add(Entity entity, List mappingList, List mappingList = mappingService.retrieveMappingsForEntity(entity.getId()); + Mapping mapping = mappingService.retrieveMappingForEntity(entity.getId()); List mappingSuggestions = mappingSuggestionsService.retrieveMappingSuggestionsForEntity(entity.getId()); - entityDataCollector.add(entity, mappingList, mappingSuggestions); + entityDataCollector.add(entity, mapping, mappingSuggestions); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java index 1a16da9..b7d11de 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java @@ -32,61 +32,48 @@ public class MappingServiceImpl implements MappingService { @Override public Mapping createMapping(Entity entity, OntologyTerm ontologyTerm, Provenance provenance) { log.info("Creating mapping for entity [{}]: {}", entity.getName(), ontologyTerm.getCurie()); - List mappings = mappingRepository.findByEntityId(entity.getId()); - for (Mapping mapping : mappings) { - if (mapping.getOntologyTermIds().contains(ontologyTerm.getId())) { - log.warn("Mapping for between entity [{}] and ontology term [{}] already exists: {}", entity.getName(), ontologyTerm.getCurie(), mapping.getId()); - return mapping; + Optional mappingOptional = mappingRepository.findByEntityId(entity.getId()); + if (mappingOptional.isPresent()) { + if (mappingOptional.get().getOntologyTermIds().contains(ontologyTerm.getId())) { + log.warn("Mapping for between entity [{}] and ontology term [{}] already exists: {}", entity.getName(), ontologyTerm.getCurie(), mappingOptional.get().getId()); + return mappingOptional.get(); } } Mapping created = mappingRepository.insert(new Mapping(null, entity.getId(), Arrays.asList(new String[]{ontologyTerm.getId()}), entity.getProjectId(), false, new ArrayList<>(), new ArrayList<>(), MappingStatus.AWAITING_REVIEW.name(), provenance, null)); + created.setOntologyTerms(Arrays.asList(new OntologyTerm[]{ontologyTerm})); log.info("Mapping for between entity [{}] and ontology term [{}] created: {}", entity.getName(), ontologyTerm.getCurie(), created.getId()); return created; } @Override - public void updateMapping(String mappingId, OntologyTerm ontologyTerm, Provenance provenance) { - log.info("Updating mapping [{}]: {}", mappingId, ontologyTerm.getCurie()); + public Mapping updateMapping(String mappingId, List ontologyTermIds) { + log.info("Updating mapping [{}]: {}", mappingId, ontologyTermIds); Optional mappingOp = mappingRepository.findById(mappingId); if (!mappingOp.isPresent()) { log.error("Mapping not found: {}", mappingId); throw new EntityNotFoundException("Mapping not found: " + mappingId); } - /** - * TODO: Associate the provenance to the ontology term rather than the entire mapping !? - */ Mapping mapping = mappingOp.get(); - mapping.getOntologyTermIds().add(ontologyTerm.getId()); - mappingRepository.save(mapping); + mapping.setOntologyTermIds(ontologyTermIds); + return mappingRepository.save(mapping); } @Override - public List deleteMapping(String mappingId, String ontoTermId, Provenance provenance) { + public void deleteMapping(String mappingId) { Optional mappingOp = mappingRepository.findById(mappingId); if (!mappingOp.isPresent()) { log.error("Mapping not found: {}", mappingId); throw new EntityNotFoundException("Mapping not found: " + mappingId); } - Mapping mapping = mappingOp.get(); - List result = new ArrayList<>(); - if (ontoTermId != null) { - mapping.getOntologyTermIds().remove(ontoTermId); - result.add(ontoTermId); - mappingRepository.save(mapping); - } else { - result.addAll(mapping.getOntologyTermIds()); - mappingRepository.delete(mapping); - } - - return result; + mappingRepository.delete(mappingOp.get()); } @Override - public Map> retrieveMappingsForEntities(List entityIds) { + public Map retrieveMappingsForEntities(List entityIds) { log.info("Retrieving mappings for entities: {}", entityIds); List mappings = mappingRepository.findByEntityIdIn(entityIds); List ontologyTermIds = new ArrayList<>(); @@ -99,7 +86,7 @@ public Map> retrieveMappingsForEntities(List entit } Map ontologyTermMap = ontologyTermService.retrieveTerms(ontologyTermIds); log.info("Found {} mappings.", mappings.size()); - Map> result = new HashMap<>(); + Map result = new HashMap<>(); for (Mapping mapping : mappings) { List ontologyTerms = new ArrayList<>(); for (String oId : mapping.getOntologyTermIds()) { @@ -110,31 +97,20 @@ public Map> retrieveMappingsForEntities(List entit ontologyTerms.add(ontologyTermMap.get(oId)); } } - List list = result.containsKey(mapping.getEntityId()) ? result.get(mapping.getEntityId()) : new ArrayList<>(); mapping.setOntologyTerms(ontologyTerms); - list.add(mapping); - result.put(mapping.getEntityId(), list); + result.put(mapping.getEntityId(), mapping); } return result; } @Override - public List retrieveMappingsForEntity(String entityId) { - log.info("Retrieving mappings for entity: {}", entityId); - List mappings = mappingRepository.findByEntityId(entityId); - List ontologyTermIds = new ArrayList<>(); - for (Mapping mapping : mappings) { - for (String oId : mapping.getOntologyTermIds()) { - if (!ontologyTermIds.contains(oId)) { - ontologyTermIds.add(oId); - } - } - } + public Mapping retrieveMappingForEntity(String entityId) { + log.info("Retrieving mapping for entity: {}", entityId); + Optional mappingOptional = mappingRepository.findByEntityId(entityId); + if (mappingOptional.isPresent()) { + Mapping mapping = mappingOptional.get(); + Map ontologyTermMap = ontologyTermService.retrieveTerms(mapping.getOntologyTermIds()); - Map ontologyTermMap = ontologyTermService.retrieveTerms(ontologyTermIds); - log.info("Found {} mappings.", mappings.size()); - List result = new ArrayList<>(); - for (Mapping mapping : mappings) { List ontologyTerms = new ArrayList<>(); for (String oId : mapping.getOntologyTermIds()) { if (!ontologyTermMap.containsKey(oId)) { @@ -145,9 +121,11 @@ public List retrieveMappingsForEntity(String entityId) { } } mapping.setOntologyTerms(ontologyTerms); - result.add(mapping); + return mapping; } - return result; + + log.warn("Unable to find mapping for entity: {}", entityId); + return null; } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java index fd538e1..28dbc7b 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java @@ -23,6 +23,7 @@ import java.util.List; import static org.junit.Assert.assertEquals; +import static org.junit.Assert.assertNotNull; import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.get; import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; @@ -74,9 +75,9 @@ public void shouldGetEntities() throws Exception { assertEquals("Achondroplasia", actual.getName()); assertEquals(EntityStatus.AUTO_MAPPED.name(), actual.getMappingStatus()); - assertEquals(1, actual.getMappings().size()); - assertEquals("Orphanet:15", actual.getMappings().get(0).getOntologyTerms().get(0).getCurie()); - assertEquals(MappingStatus.AWAITING_REVIEW.name(), actual.getMappings().get(0).getStatus()); + assertNotNull(actual.getMapping()); + assertEquals("Orphanet:15", actual.getMapping().getOntologyTerms().get(0).getCurie()); + assertEquals(MappingStatus.AWAITING_REVIEW.name(), actual.getMapping().getStatus()); assertEquals(2, actual.getMappingSuggestions().size()); int foundCuries = 0; @@ -114,9 +115,9 @@ public void shouldGetEntity() throws Exception { assertEquals("Achondroplasia", actual.getName()); assertEquals(EntityStatus.AUTO_MAPPED.name(), actual.getMappingStatus()); - assertEquals(1, actual.getMappings().size()); - assertEquals("Orphanet:15", actual.getMappings().get(0).getOntologyTerms().get(0).getCurie()); - assertEquals(MappingStatus.AWAITING_REVIEW.name(), actual.getMappings().get(0).getStatus()); + assertNotNull(actual.getMapping()); + assertEquals("Orphanet:15", actual.getMapping().getOntologyTerms().get(0).getCurie()); + assertEquals(MappingStatus.AWAITING_REVIEW.name(), actual.getMapping().getStatus()); assertEquals(2, actual.getMappingSuggestions().size()); int foundCuries = 0; diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index 5b6b5cd..a981dc4 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -30,6 +30,7 @@ import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.repository.*; import uk.ac.ebi.spot.ontotools.curation.rest.dto.*; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingDto; import uk.ac.ebi.spot.ontotools.curation.service.MatchmakerService; import uk.ac.ebi.spot.ontotools.curation.service.OLSService; import uk.ac.ebi.spot.ontotools.curation.service.UserService; @@ -101,13 +102,13 @@ public OLSService olsService() { private AuthTokenRepository authTokenRepository; @Autowired - private OntologyTermRepository ontologyTermRepository; + protected OntologyTermRepository ontologyTermRepository; @Autowired - private MappingSuggestionRepository mappingSuggestionRepository; + protected MappingSuggestionRepository mappingSuggestionRepository; @Autowired - private MappingRepository mappingRepository; + protected MappingRepository mappingRepository; @Autowired private EntityRepository entityRepository; @@ -237,7 +238,7 @@ protected void createEntityTestData(String sourceId, String projectId, User user projectId, false, new ArrayList<>(), new ArrayList<>(), MappingStatus.AWAITING_REVIEW.name(), provenance, null)); } - protected EntityDto retrieveEntity(String projectId) throws Exception { + protected List retrieveMapping(String projectId) throws Exception { String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectId + CurationConstants.API_MAPPINGS + "?entityId=" + entity.getId(); String response = mockMvc.perform(get(endpoint) @@ -248,9 +249,8 @@ protected EntityDto retrieveEntity(String projectId) throws Exception { .getResponse() .getContentAsString(); - EntityDto actual = mapper.readValue(response, new TypeReference() { + List actual = mapper.readValue(response, new TypeReference>() { }); return actual; } - } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingCommentsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingCommentsControllerTest.java index ccf5d41..abb986f 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingCommentsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingCommentsControllerTest.java @@ -10,7 +10,6 @@ import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; import uk.ac.ebi.spot.ontotools.curation.rest.assembler.ProvenanceDtoAssembler; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.EntityDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.CommentDto; @@ -62,8 +61,8 @@ public void setup() throws Exception { */ @Test public void shouldCreateComment() throws Exception { - EntityDto actual = super.retrieveEntity(project.getId()); - MappingDto mappingDto = actual.getMappings().get(0); + List actual = super.retrieveMapping(project.getId()); + MappingDto mappingDto = actual.get(0); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId() + CurationConstants.API_COMMENTS; @@ -89,8 +88,8 @@ public void shouldCreateComment() throws Exception { */ @Test public void shouldGetComments() throws Exception { - EntityDto actual = super.retrieveEntity(project.getId()); - MappingDto mappingDto = actual.getMappings().get(0); + List actual = super.retrieveMapping(project.getId()); + MappingDto mappingDto = actual.get(0); mappingService.addCommentToMapping(mappingDto.getId(), "New comment", ProvenanceDtoAssembler.disassemble(mappingDto.getCreated())); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + @@ -114,8 +113,8 @@ public void shouldGetComments() throws Exception { */ @Test public void shouldNotCreateComment() throws Exception { - EntityDto actual = super.retrieveEntity(project.getId()); - MappingDto mappingDto = actual.getMappings().get(0); + List actual = super.retrieveMapping(project.getId()); + MappingDto mappingDto = actual.get(0); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId() + CurationConstants.API_COMMENTS; @@ -131,8 +130,8 @@ public void shouldNotCreateComment() throws Exception { */ @Test public void shouldNotGetComments() throws Exception { - EntityDto actual = super.retrieveEntity(project.getId()); - MappingDto mappingDto = actual.getMappings().get(0); + List actual = super.retrieveMapping(project.getId()); + MappingDto mappingDto = actual.get(0); mappingService.addCommentToMapping(mappingDto.getId(), "New comment", ProvenanceDtoAssembler.disassemble(mappingDto.getCreated())); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java index 5b634dc..f255ec8 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java @@ -12,7 +12,6 @@ import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; import uk.ac.ebi.spot.ontotools.curation.rest.assembler.ProvenanceDtoAssembler; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.EntityDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingDto; @@ -64,8 +63,8 @@ public void setup() throws Exception { */ @Test public void shouldCreateReview() throws Exception { - EntityDto actual = super.retrieveEntity(project.getId()); - MappingDto mappingDto = actual.getMappings().get(0); + List actual = super.retrieveMapping(project.getId()); + MappingDto mappingDto = actual.get(0); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId() + CurationConstants.API_REVIEWS; @@ -93,8 +92,8 @@ public void shouldCreateReview() throws Exception { */ @Test public void shouldCreateReviewedMapping() throws Exception { - EntityDto actual = super.retrieveEntity(project.getId()); - MappingDto mappingDto = actual.getMappings().get(0); + List actual = super.retrieveMapping(project.getId()); + MappingDto mappingDto = actual.get(0); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId() + CurationConstants.API_REVIEWS; @@ -120,8 +119,8 @@ public void shouldCreateReviewedMapping() throws Exception { */ @Test public void shouldGetReviews() throws Exception { - EntityDto actual = super.retrieveEntity(project.getId()); - MappingDto mappingDto = actual.getMappings().get(0); + List actual = super.retrieveMapping(project.getId()); + MappingDto mappingDto = actual.get(0); mappingService.addReviewToMapping(mappingDto.getId(), "New review", 3, ProvenanceDtoAssembler.disassemble(mappingDto.getCreated())); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + @@ -145,8 +144,8 @@ public void shouldGetReviews() throws Exception { */ @Test public void shouldNotCreateReview() throws Exception { - EntityDto actual = super.retrieveEntity(project.getId()); - MappingDto mappingDto = actual.getMappings().get(0); + List actual = super.retrieveMapping(project.getId()); + MappingDto mappingDto = actual.get(0); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId() + CurationConstants.API_REVIEWS; @@ -162,8 +161,8 @@ public void shouldNotCreateReview() throws Exception { */ @Test public void shouldNotGetReviews() throws Exception { - EntityDto actual = super.retrieveEntity(project.getId()); - MappingDto mappingDto = actual.getMappings().get(0); + List actual = super.retrieveMapping(project.getId()); + MappingDto mappingDto = actual.get(0); mappingService.addReviewToMapping(mappingDto.getId(), "New review", 3, ProvenanceDtoAssembler.disassemble(mappingDto.getCreated())); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + @@ -179,8 +178,8 @@ public void shouldNotGetReviews() throws Exception { */ @Test public void shouldNotCreateReviewAsConsumer() throws Exception { - EntityDto actual = super.retrieveEntity(project.getId()); - MappingDto mappingDto = actual.getMappings().get(0); + List actual = super.retrieveMapping(project.getId()); + MappingDto mappingDto = actual.get(0); userService.addUserToProject(super.user2, project.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + @@ -197,8 +196,8 @@ public void shouldNotCreateReviewAsConsumer() throws Exception { */ @Test public void shouldNotGetReviewsAsConsumer() throws Exception { - EntityDto actual = super.retrieveEntity(project.getId()); - MappingDto mappingDto = actual.getMappings().get(0); + List actual = super.retrieveMapping(project.getId()); + MappingDto mappingDto = actual.get(0); mappingService.addReviewToMapping(mappingDto.getId(), "New review", 3, ProvenanceDtoAssembler.disassemble(mappingDto.getCreated())); userService.addUserToProject(super.user2, project.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java index 10163f3..ca2c9a1 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java @@ -7,6 +7,8 @@ import org.springframework.test.context.ContextConfiguration; import uk.ac.ebi.spot.ontotools.curation.constants.*; import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.rest.assembler.OntologyTermDtoAssembler; import uk.ac.ebi.spot.ontotools.curation.rest.dto.EntityDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; @@ -18,6 +20,7 @@ import uk.ac.ebi.spot.ontotools.curation.service.UserService; import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; +import java.util.ArrayList; import java.util.Arrays; import java.util.List; @@ -56,27 +59,10 @@ public void setup() throws Exception { */ @Test public void shouldGetMappings() throws Exception { - EntityDto actual = super.retrieveEntity(project.getId()); - assertEquals("Achondroplasia", actual.getName()); - assertEquals(EntityStatus.AUTO_MAPPED.name(), actual.getMappingStatus()); - - assertEquals(1, actual.getMappings().size()); - assertEquals("Orphanet:15", actual.getMappings().get(0).getOntologyTerms().get(0).getCurie()); - assertEquals(MappingStatus.AWAITING_REVIEW.name(), actual.getMappings().get(0).getStatus()); - - assertEquals(2, actual.getMappingSuggestions().size()); - int foundCuries = 0; - for (MappingSuggestionDto mappingSuggestion : actual.getMappingSuggestions()) { - if (mappingSuggestion.getOntologyTerm().getCurie().equalsIgnoreCase("Orphanet:15")) { - foundCuries++; - } - if (mappingSuggestion.getOntologyTerm().getCurie().equalsIgnoreCase("MONDO:0007037")) { - foundCuries++; - } - } - - assertEquals(2, foundCuries); - assertEquals(sourceDto.getId(), actual.getSource().getId()); + List actual = super.retrieveMapping(project.getId()); + assertEquals(1, actual.size()); + assertEquals("Orphanet:15", actual.get(0).getOntologyTerms().get(0).getCurie()); + assertEquals(MappingStatus.AWAITING_REVIEW.name(), actual.get(0).getStatus()); } /** @@ -84,16 +70,10 @@ public void shouldGetMappings() throws Exception { */ @Test public void shouldCreateMapping() throws Exception { - EntityDto entityDto = super.retrieveEntity(project.getId()); - OntologyTermDto ontologyTermDto = null; - for (MappingSuggestionDto mappingSuggestionDto : entityDto.getMappingSuggestions()) { - if (mappingSuggestionDto.getOntologyTerm().getCurie().equalsIgnoreCase("MONDO:0007037")) { - ontologyTermDto = mappingSuggestionDto.getOntologyTerm(); - break; - } - } - assertNotNull(ontologyTermDto); - MappingCreationDto mappingCreationDto = new MappingCreationDto(entityDto.getId(), ontologyTermDto); + OntologyTerm ontologyTerm = ontologyTermRepository.findByCurie("MONDO:0007037").get(); + OntologyTermDto ontologyTermDto = OntologyTermDtoAssembler.assemble(ontologyTerm); + MappingCreationDto mappingCreationDto = new MappingCreationDto(entity.getId(), ontologyTermDto); + mappingRepository.deleteAll(); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS; String response = mockMvc.perform(post(endpoint) @@ -105,32 +85,37 @@ public void shouldCreateMapping() throws Exception { .getResponse() .getContentAsString(); - EntityDto actual = mapper.readValue(response, new TypeReference() { + MappingDto actual = mapper.readValue(response, new TypeReference() { }); - assertEquals("Achondroplasia", actual.getName()); - assertEquals(EntityStatus.MANUALLY_MAPPED.name(), actual.getMappingStatus()); - - assertEquals(2, actual.getMappings().size()); - int foundCuries = 0; - for (MappingDto mappingDto : actual.getMappings()) { - if (mappingDto.getOntologyTerms().get(0).getCurie().equalsIgnoreCase("Orphanet:15")) { - foundCuries++; - } - if (mappingDto.getOntologyTerms().get(0).getCurie().equalsIgnoreCase("MONDO:0007037")) { - foundCuries++; - } - } + assertEquals(1, actual.getOntologyTerms().size()); + assertEquals("Achondroplasia", actual.getOntologyTerms().get(0).getLabel()); + assertEquals("MONDO:0007037", actual.getOntologyTerms().get(0).getCurie()); - assertEquals(2, foundCuries); - for (MappingDto mappingDto : actual.getMappings()) { - assertEquals(MappingStatus.AWAITING_REVIEW.name(), mappingDto.getStatus()); - } + endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_ENTITIES + "/" + entity.getId(); + response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + EntityDto actualEntity = mapper.readValue(response, new TypeReference() { + }); - assertEquals(1, actual.getMappingSuggestions().size()); - assertEquals("Orphanet:15", actual.getMappingSuggestions().get(0).getOntologyTerm().getCurie()); + assertEquals(EntityStatus.MANUALLY_MAPPED.name(), actualEntity.getMappingStatus()); - assertEquals(sourceDto.getId(), actual.getSource().getId()); + assertNotNull(actualEntity.getMapping()); + assertEquals(1, actualEntity.getMapping().getOntologyTerms().size()); + assertEquals("Achondroplasia", actualEntity.getMapping().getOntologyTerms().get(0).getLabel()); + assertEquals("MONDO:0007037", actualEntity.getMapping().getOntologyTerms().get(0).getCurie()); + + assertEquals(1, actualEntity.getMappingSuggestions().size()); + assertEquals("Orphanet:15", actualEntity.getMappingSuggestions().get(0).getOntologyTerm().getCurie()); + + assertEquals(sourceDto.getId(), actualEntity.getSource().getId()); } /** @@ -138,106 +123,91 @@ public void shouldCreateMapping() throws Exception { */ @Test public void shouldUpdateMapping() throws Exception { - EntityDto entityDto = super.retrieveEntity(project.getId()); - OntologyTermDto ontologyTermDto = null; - for (MappingSuggestionDto mappingSuggestionDto : entityDto.getMappingSuggestions()) { - if (mappingSuggestionDto.getOntologyTerm().getCurie().equalsIgnoreCase("MONDO:0007037")) { - ontologyTermDto = mappingSuggestionDto.getOntologyTerm(); - break; - } - } - assertNotNull(ontologyTermDto); - MappingCreationDto mappingCreationDto = new MappingCreationDto(entityDto.getId(), ontologyTermDto); + List mappingDtos = super.retrieveMapping(project.getId()); + List ontologyTermDtos = new ArrayList<>(); + ontologyTermDtos.add(OntologyTermDtoAssembler.assemble(ontologyTermRepository.findByCurie("MONDO:0007037").get())); + ontologyTermDtos.add(OntologyTermDtoAssembler.assemble(ontologyTermRepository.findByCurie("Orphanet:15").get())); - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + orphaTermMapping.getId(); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + mappingDtos.get(0).getId(); String response = mockMvc.perform(put(endpoint) .contentType(MediaType.APPLICATION_JSON) - .content(mapper.writeValueAsString(mappingCreationDto)) + .content(mapper.writeValueAsString(ontologyTermDtos)) .header(IDPConstants.JWT_TOKEN, "token1")) .andExpect(status().isOk()) .andReturn() .getResponse() .getContentAsString(); - EntityDto actual = mapper.readValue(response, new TypeReference() { + MappingDto actual = mapper.readValue(response, new TypeReference() { }); - - assertEquals("Achondroplasia", actual.getName()); - assertEquals(EntityStatus.MANUALLY_MAPPED.name(), actual.getMappingStatus()); - - assertEquals(1, actual.getMappings().size()); - int foundCuries = 0; - for (OntologyTermDto ontologyTerm : actual.getMappings().get(0).getOntologyTerms()) { - if (ontologyTerm.getCurie().equalsIgnoreCase("Orphanet:15")) { - foundCuries++; - } - if (ontologyTerm.getCurie().equalsIgnoreCase("MONDO:0007037")) { - foundCuries++; - } + assertEquals(2, actual.getOntologyTerms().size()); + List curies = new ArrayList<>(); + for (OntologyTermDto ontologyTermDto : actual.getOntologyTerms()) { + curies.add(ontologyTermDto.getCurie()); } - assertEquals(2, foundCuries); - assertEquals(1, actual.getMappingSuggestions().size()); - assertEquals("Orphanet:15", actual.getMappingSuggestions().get(0).getOntologyTerm().getCurie()); - } + assertTrue(curies.contains("Orphanet:15")); + assertTrue(curies.contains("MONDO:0007037")); - /** - * DELETE /v1/projects/{projectId}/mappings/{mappingId}?curie= - */ - @Test - public void shouldDeleteMappingByCurie() throws Exception { - EntityDto entityDto = super.retrieveEntity(project.getId()); - OntologyTermDto ontologyTermDto = null; - for (MappingSuggestionDto mappingSuggestionDto : entityDto.getMappingSuggestions()) { - if (mappingSuggestionDto.getOntologyTerm().getCurie().equalsIgnoreCase("MONDO:0007037")) { - ontologyTermDto = mappingSuggestionDto.getOntologyTerm(); - break; - } - } - assertNotNull(ontologyTermDto); - MappingCreationDto mappingCreationDto = new MappingCreationDto(entityDto.getId(), ontologyTermDto); - - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + orphaTermMapping.getId(); - String response = mockMvc.perform(put(endpoint) + endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_ENTITIES + "/" + entity.getId(); + response = mockMvc.perform(get(endpoint) .contentType(MediaType.APPLICATION_JSON) - .content(mapper.writeValueAsString(mappingCreationDto)) .header(IDPConstants.JWT_TOKEN, "token1")) .andExpect(status().isOk()) .andReturn() .getResponse() .getContentAsString(); - EntityDto actual = mapper.readValue(response, new TypeReference() { + EntityDto actualEntity = mapper.readValue(response, new TypeReference() { }); - assertEquals(1, actual.getMappings().size()); - int foundCuries = 0; - for (OntologyTermDto ontologyTerm : actual.getMappings().get(0).getOntologyTerms()) { - if (ontologyTerm.getCurie().equalsIgnoreCase("Orphanet:15")) { - foundCuries++; - } - if (ontologyTerm.getCurie().equalsIgnoreCase("MONDO:0007037")) { - foundCuries++; - } - } + assertEquals(EntityStatus.MANUALLY_MAPPED.name(), actualEntity.getMappingStatus()); + + assertNotNull(actualEntity.getMapping()); + assertEquals(2, actualEntity.getMapping().getOntologyTerms().size()); - assertEquals(2, foundCuries); - assertEquals(1, actual.getMappingSuggestions().size()); - assertEquals("Orphanet:15", actual.getMappingSuggestions().get(0).getOntologyTerm().getCurie()); + assertEquals(0, actualEntity.getMappingSuggestions().size()); + } - endpoint += "?curie=MONDO:0007037"; + /** + * DELETE /v1/projects/{projectId}/mappings/{mappingId} + */ + @Test + public void shouldDeleteMapping() throws Exception { + List actual = super.retrieveMapping(project.getId()); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + actual.get(0).getId(); mockMvc.perform(delete(endpoint) .contentType(MediaType.APPLICATION_JSON) .header(IDPConstants.JWT_TOKEN, "token1")) .andExpect(status().isOk()); - entityDto = super.retrieveEntity(project.getId()); - assertEquals(1, entityDto.getMappings().size()); - assertEquals(1, entityDto.getMappings().get(0).getOntologyTerms().size()); - assertEquals("Orphanet:15", entityDto.getMappings().get(0).getOntologyTerms().get(0).getCurie()); + endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_ENTITIES + "/" + entity.getId(); + String response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); - assertEquals(2, entityDto.getMappingSuggestions().size()); + EntityDto actualEntity = mapper.readValue(response, new TypeReference() { + }); + + assertEquals(EntityStatus.SUGGESTIONS_PROVIDED.name(), actualEntity.getMappingStatus()); + + assertNull(actualEntity.getMapping()); + + assertEquals(2, actualEntity.getMappingSuggestions().size()); + List curies = new ArrayList<>(); + for (MappingSuggestionDto mappingSuggestionDto : actualEntity.getMappingSuggestions()) { + curies.add(mappingSuggestionDto.getOntologyTerm().getCurie()); + } + + assertTrue(curies.contains("Orphanet:15")); + assertTrue(curies.contains("MONDO:0007037")); } /** @@ -245,17 +215,8 @@ public void shouldDeleteMappingByCurie() throws Exception { */ @Test public void shouldNotCreateMapping() throws Exception { - EntityDto entityDto = super.retrieveEntity(project.getId()); - OntologyTermDto ontologyTermDto = null; - for (MappingSuggestionDto mappingSuggestionDto : entityDto.getMappingSuggestions()) { - if (mappingSuggestionDto.getOntologyTerm().getCurie().equalsIgnoreCase("MONDO:0007037")) { - ontologyTermDto = mappingSuggestionDto.getOntologyTerm(); - break; - } - } - assertNotNull(ontologyTermDto); - MappingCreationDto mappingCreationDto = new MappingCreationDto(entityDto.getId(), ontologyTermDto); - + MappingCreationDto mappingCreationDto = new MappingCreationDto(entity.getId(), + new OntologyTermDto("MONDO:0007037", "http://purl.obolibrary.org/obo/MONDO_0007037", "Achondroplasia", TermStatus.NEEDS_IMPORT.name(), null, null)); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS; mockMvc.perform(post(endpoint) .contentType(MediaType.APPLICATION_JSON) @@ -269,16 +230,8 @@ public void shouldNotCreateMapping() throws Exception { */ @Test public void shouldNotCreateMappingAsConsumer() throws Exception { - EntityDto entityDto = super.retrieveEntity(project.getId()); - OntologyTermDto ontologyTermDto = null; - for (MappingSuggestionDto mappingSuggestionDto : entityDto.getMappingSuggestions()) { - if (mappingSuggestionDto.getOntologyTerm().getCurie().equalsIgnoreCase("MONDO:0007037")) { - ontologyTermDto = mappingSuggestionDto.getOntologyTerm(); - break; - } - } - assertNotNull(ontologyTermDto); - MappingCreationDto mappingCreationDto = new MappingCreationDto(entityDto.getId(), ontologyTermDto); + MappingCreationDto mappingCreationDto = new MappingCreationDto(entity.getId(), + new OntologyTermDto("MONDO:0007037", "http://purl.obolibrary.org/obo/MONDO_0007037", "Achondroplasia", TermStatus.NEEDS_IMPORT.name(), null, null)); userService.addUserToProject(super.user2, project.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS; @@ -288,4 +241,34 @@ public void shouldNotCreateMappingAsConsumer() throws Exception { .header(IDPConstants.JWT_TOKEN, "token2")) .andExpect(status().isNotFound()); } + + /** + * DELETE /v1/projects/{projectId}/mappings/{mappingId} + */ + @Test + public void shouldNotDeleteMapping() throws Exception { + List actual = super.retrieveMapping(project.getId()); + MappingDto mappingDto = actual.get(0); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId(); + mockMvc.perform(delete(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * DELETE /v1/projects/{projectId}/mappings/{mappingId} + */ + @Test + public void shouldNotDeleteMappingAsConsumer() throws Exception { + List actual = super.retrieveMapping(project.getId()); + MappingDto mappingDto = actual.get(0); + userService.addUserToProject(super.user2, project.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId(); + mockMvc.perform(delete(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java index 2ad85a8..c279f88 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java @@ -24,8 +24,7 @@ import java.util.*; -import static org.junit.Assert.assertEquals; -import static org.junit.Assert.assertTrue; +import static org.junit.Assert.*; import static org.mockito.ArgumentMatchers.any; import static org.mockito.ArgumentMatchers.eq; import static org.mockito.Mockito.when; @@ -142,10 +141,8 @@ public void testCase1() { List mappingSuggestions = mappingSuggestionMap.get(entity.getId()); assertEquals(2, mappingSuggestions.size()); - Map> mappingMap = mappingService.retrieveMappingsForEntities(Arrays.asList(new String[]{entity.getId()})); - assertEquals(1, mappingMap.size()); - List mappings = mappingMap.get(entity.getId()); - assertEquals(1, mappings.size()); + Mapping mapping = mappingService.retrieveMappingForEntity(entity.getId()); + assertNotNull(mapping); } /** @@ -191,8 +188,8 @@ public void testCase2() { List mappingSuggestions = mappingSuggestionMap.get(entity.getId()); assertEquals(2, mappingSuggestions.size()); - Map> mappingMap = mappingService.retrieveMappingsForEntities(Arrays.asList(new String[]{entity.getId()})); - assertEquals(0, mappingMap.size()); + Mapping mapping = mappingService.retrieveMappingForEntity(entity.getId()); + assertNull(mapping); } /** @@ -240,8 +237,8 @@ public void testCase3() { List mappingSuggestions = mappingSuggestionMap.get(entity.getId()); assertEquals(1, mappingSuggestions.size()); - Map> mappingMap = mappingService.retrieveMappingsForEntities(Arrays.asList(new String[]{entity.getId()})); - assertEquals(0, mappingMap.size()); + Mapping mapping = mappingService.retrieveMappingForEntity(entity.getId()); + assertNull(mapping); } /** @@ -286,10 +283,8 @@ public void testCase4() { List mappingSuggestions = mappingSuggestionMap.get(entity.getId()); assertEquals(2, mappingSuggestions.size()); - Map> mappingMap = mappingService.retrieveMappingsForEntities(Arrays.asList(new String[]{entity.getId()})); - assertEquals(1, mappingMap.size()); - List mappings = mappingMap.get(entity.getId()); - assertEquals(1, mappings.size()); + Mapping mapping = mappingService.retrieveMappingForEntity(entity.getId()); + assertNotNull(mapping); } /** @@ -334,7 +329,7 @@ public void testCase5() { List mappingSuggestions = mappingSuggestionMap.get(entity.getId()); assertEquals(2, mappingSuggestions.size()); - Map> mappingMap = mappingService.retrieveMappingsForEntities(Arrays.asList(new String[]{entity.getId()})); - assertEquals(0, mappingMap.size()); + Mapping mapping = mappingService.retrieveMappingForEntity(entity.getId()); + assertNull(mapping); } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java index 86665dd..b3bdf95 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java @@ -8,8 +8,8 @@ import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; import uk.ac.ebi.spot.ontotools.curation.constants.TermStatus; -import uk.ac.ebi.spot.ontotools.curation.domain.*; import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.config.ExternalServiceConfig; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; @@ -25,8 +25,7 @@ import java.util.List; import java.util.Map; -import static org.junit.Assert.assertEquals; -import static org.junit.Assert.assertTrue; +import static org.junit.Assert.*; @ContextConfiguration(classes = {IntegrationTest.MockTaskExecutorConfig.class}) public class MatchMakingTest extends IntegrationTest { @@ -112,14 +111,9 @@ public void runMatchmakingTest() { assertTrue(ontoMap.containsKey(mappingSuggestion.getOntologyTermId())); } - Map> mappingMap = mappingService.retrieveMappingsForEntities(Arrays.asList(new String[]{entity.getId()})); - assertEquals(1, mappingMap.size()); - List mappings = mappingMap.get(entity.getId()); - assertEquals(1, mappings.size()); - - for (Mapping mapping : mappings) { - assertTrue(ontoMap.containsKey(mapping.getOntologyTermIds().get(0))); - assertEquals(MappingStatus.AWAITING_REVIEW.name(), mapping.getStatus()); - } + Mapping mapping = mappingService.retrieveMappingForEntity(entity.getId()); + assertNotNull(mapping); + assertTrue(ontoMap.containsKey(mapping.getOntologyTermIds().get(0))); + assertEquals(MappingStatus.AWAITING_REVIEW.name(), mapping.getStatus()); } } From 424b76c30927d932791e9589781a8d155dff5396 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Mon, 8 Mar 2021 21:11:26 +0800 Subject: [PATCH 32/72] WIP: Adding audit trail for entities. --- .../constants/AuditEntryConstants.java | 11 ++++ .../ontotools/curation/domain/AuditEntry.java | 34 ++++++++++ .../curation/domain/MetadataEntry.java | 13 ++++ .../repository/AuditEntryRepository.java | 11 ++++ .../assembler/AuditEntryDtoAssembler.java | 17 +++++ .../rest/assembler/EntityDtoAssembler.java | 6 +- .../assembler/MetadataEntryDtoAssembler.java | 10 +++ .../rest/controller/EntityController.java | 12 +++- .../rest/controller/MappingsController.java | 36 +++++----- .../curation/rest/dto/EntityDto.java | 10 +++ .../curation/rest/dto/ProvenanceDto.java | 6 +- .../rest/dto/audit/AuditEntryDto.java | 66 +++++++++++++++++++ .../curation/rest/dto/audit/AuditUserDto.java | 36 ++++++++++ .../rest/dto/audit/MetadataEntryDto.java | 39 +++++++++++ .../curation/service/AuditEntryService.java | 14 ++++ .../curation/service/MappingService.java | 4 +- .../service/MappingSuggestionsService.java | 4 +- .../service/impl/AuditEntryServiceImpl.java | 38 +++++++++++ .../service/impl/MappingServiceImpl.java | 41 ++++++------ .../impl/MappingSuggestionsServiceImpl.java | 26 ++++++-- .../service/impl/MatchmakerServiceImpl.java | 2 +- 21 files changed, 382 insertions(+), 54 deletions(-) create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/AuditEntryConstants.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/AuditEntry.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MetadataEntry.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/AuditEntryRepository.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/AuditEntryDtoAssembler.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MetadataEntryDtoAssembler.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/AuditEntryDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/AuditUserDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/MetadataEntryDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/AuditEntryService.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/AuditEntryServiceImpl.java diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/AuditEntryConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/AuditEntryConstants.java new file mode 100644 index 0000000..157ece6 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/AuditEntryConstants.java @@ -0,0 +1,11 @@ +package uk.ac.ebi.spot.ontotools.curation.constants; + +public enum AuditEntryConstants { + + ADDED_SUGGESTION, + REMOVED_SUGGESTION, + ADDED_MAPPING, + UPDATED_MAPPING, + REMOVED_MAPPING, + REVIEWED +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/AuditEntry.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/AuditEntry.java new file mode 100644 index 0000000..02eb009 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/AuditEntry.java @@ -0,0 +1,34 @@ +package uk.ac.ebi.spot.ontotools.curation.domain; + +import lombok.AllArgsConstructor; +import lombok.Getter; +import lombok.NoArgsConstructor; +import lombok.Setter; +import org.joda.time.DateTime; +import org.springframework.data.annotation.Id; +import org.springframework.data.mongodb.core.index.Indexed; +import org.springframework.data.mongodb.core.mapping.Document; + +import java.util.List; + +@Document(collection = "auditEntries") +@NoArgsConstructor +@AllArgsConstructor +@Getter +@Setter +public class AuditEntry { + + @Id + private String id; + + @Indexed + private String entityId; + + private String action; + + private Provenance provenance; + + private List metadataEntries; + + private DateTime timestamp; +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MetadataEntry.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MetadataEntry.java new file mode 100644 index 0000000..2fabbf8 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MetadataEntry.java @@ -0,0 +1,13 @@ +package uk.ac.ebi.spot.ontotools.curation.domain; + +import lombok.AllArgsConstructor; +import lombok.Getter; + +@AllArgsConstructor +@Getter +public class MetadataEntry { + + private String key; + + private String value; +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/AuditEntryRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/AuditEntryRepository.java new file mode 100644 index 0000000..3a18bd6 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/AuditEntryRepository.java @@ -0,0 +1,11 @@ +package uk.ac.ebi.spot.ontotools.curation.repository; + +import org.springframework.data.mongodb.repository.MongoRepository; +import uk.ac.ebi.spot.ontotools.curation.domain.AuditEntry; + +import java.util.List; + +public interface AuditEntryRepository extends MongoRepository { + + List findByEntityIdOrderByTimestampDesc(String entityId); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/AuditEntryDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/AuditEntryDtoAssembler.java new file mode 100644 index 0000000..35b7f1e --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/AuditEntryDtoAssembler.java @@ -0,0 +1,17 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.assembler; + +import uk.ac.ebi.spot.ontotools.curation.domain.AuditEntry; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.audit.AuditEntryDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.audit.AuditUserDto; + +import java.util.stream.Collectors; + +public class AuditEntryDtoAssembler { + + public static AuditEntryDto assemble(AuditEntry auditEntry) { + return new AuditEntryDto(auditEntry.getAction(), + new AuditUserDto(auditEntry.getProvenance().getUserName(), auditEntry.getProvenance().getUserEmail()), + auditEntry.getMetadataEntries().stream().map(MetadataEntryDtoAssembler::assemble).collect(Collectors.toList()), + auditEntry.getTimestamp()); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java index 73217ad..73cec2a 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java @@ -1,10 +1,12 @@ package uk.ac.ebi.spot.ontotools.curation.rest.assembler; +import uk.ac.ebi.spot.ontotools.curation.domain.AuditEntry; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.MappingSuggestion; import uk.ac.ebi.spot.ontotools.curation.rest.dto.EntityDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.audit.AuditEntryDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingSuggestionDto; @@ -14,9 +16,10 @@ public class EntityDtoAssembler { - public static EntityDto assemble(Entity entity, SourceDto source, Mapping mapping, List mappingSuggestions) { + public static EntityDto assemble(Entity entity, SourceDto source, Mapping mapping, List mappingSuggestions, List auditEntries) { List mappingSuggestionDtos = mappingSuggestions != null ? mappingSuggestions.stream().map(MappingSuggestionDtoAssembler::assemble).collect(Collectors.toList()) : new ArrayList<>(); MappingDto mappingDto = mapping != null ? MappingDtoAssembler.assemble(mapping) : null; + List auditTrail = auditEntries != null ? auditEntries.stream().map(AuditEntryDtoAssembler::assemble).collect(Collectors.toList()) : new ArrayList<>(); return new EntityDto(entity.getId(), source, @@ -26,6 +29,7 @@ public static EntityDto assemble(Entity entity, SourceDto source, Mapping mappin entity.getMappingStatus().name(), mappingSuggestionDtos, mappingDto, + auditTrail, ProvenanceDtoAssembler.assemble(entity.getCreated())); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MetadataEntryDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MetadataEntryDtoAssembler.java new file mode 100644 index 0000000..a06e050 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MetadataEntryDtoAssembler.java @@ -0,0 +1,10 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.assembler; + +import uk.ac.ebi.spot.ontotools.curation.domain.MetadataEntry; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.audit.MetadataEntryDto; + +public class MetadataEntryDtoAssembler { + public static MetadataEntryDto assemble(MetadataEntry metadataEntry) { + return new MetadataEntryDto(metadataEntry.getKey(), metadataEntry.getValue()); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java index 3a12ee1..b46ce8c 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java @@ -53,6 +53,9 @@ public class EntityController { @Autowired private MappingService mappingService; + @Autowired + private AuditEntryService auditEntryService; + /** * GET /v1/projects/{projectId}/entities */ @@ -75,7 +78,10 @@ public RestResponsePage getEntities(@PathVariable String projectId, @ Map> mappingSuggestions = mappingSuggestionsService.retrieveMappingSuggestionsForEntities(entityIds); List entityDtos = new ArrayList<>(); for (Entity entity : entities.getContent()) { - entityDtos.add(EntityDtoAssembler.assemble(entity, sourceMap.get(entity.getSourceId()), mappings.get(entity.getId()), mappingSuggestions.get(entity.getId()))); + entityDtos.add(EntityDtoAssembler.assemble(entity, sourceMap.get(entity.getSourceId()), + mappings.get(entity.getId()), + mappingSuggestions.get(entity.getId()), + auditEntryService.retrieveAuditEntries(entity.getId()))); } return new RestResponsePage<>(entityDtos, pageable, entities.getTotalElements()); } @@ -94,6 +100,8 @@ public EntityDto getEntity(@PathVariable String projectId, @PathVariable String Source source = sourceService.getSource(entity.getSourceId(), projectId); Mapping mapping = mappingService.retrieveMappingForEntity(entityId); Map> mappingSuggestions = mappingSuggestionsService.retrieveMappingSuggestionsForEntities(Arrays.asList(new String[]{entityId})); - return EntityDtoAssembler.assemble(entity, SourceDtoAssembler.assemble(source), mapping, mappingSuggestions.get(entityId)); + return EntityDtoAssembler.assemble(entity, SourceDtoAssembler.assemble(source), + mapping, mappingSuggestions.get(entityId), + auditEntryService.retrieveAuditEntries(entity.getId())); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java index 4f48ed9..1007cba 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java @@ -26,9 +26,7 @@ import javax.servlet.http.HttpServletRequest; import javax.validation.Valid; import javax.validation.constraints.NotEmpty; -import java.util.ArrayList; -import java.util.Arrays; -import java.util.List; +import java.util.*; @RestController @RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) @@ -48,9 +46,6 @@ public class MappingsController { @Autowired private MappingService mappingService; - @Autowired - private SourceService sourceService; - @Autowired private MappingSuggestionsService mappingSuggestionsService; @@ -113,7 +108,7 @@ public MappingDto createMapping(@PathVariable String projectId, @RequestBody @Va /** * Deleting mapping suggestions associated with the current ontology term. */ - mappingSuggestionsService.deleteMappingSuggestions(entity.getId(), ontologyTerm.getId()); + mappingSuggestionsService.deleteMappingSuggestions(entity.getId(), ontologyTerm, provenance); return MappingDtoAssembler.assemble(created); } @@ -130,20 +125,20 @@ public MappingDto updateMapping(@PathVariable String projectId, @PathVariable St projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR})); Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); - List ontologyTermIds = new ArrayList<>(); + Map ontologyTermMap = new LinkedHashMap<>(); List ontologyTerms = new ArrayList<>(); for (OntologyTermDto ontologyTermDto : ontologyTermsDtos) { OntologyTerm ontologyTerm = ontologyTermService.retrieveTermByCurie(ontologyTermDto.getCurie()); - ontologyTermIds.add(ontologyTerm.getId()); + ontologyTermMap.put(ontologyTerm.getId(), ontologyTerm); ontologyTerms.add(ontologyTerm); } Mapping existing = mappingService.retrieveMappingById(mappingId); List existingOntoIds = existing.getOntologyTermIds(); - Mapping updated = mappingService.updateMapping(mappingId, ontologyTermIds); + Mapping updated = mappingService.updateMapping(mappingId, ontologyTerms, provenance); List old = new ArrayList<>(); for (String oId : existingOntoIds) { - if (!ontologyTermIds.contains(oId)) { + if (!ontologyTermMap.containsKey(oId)) { old.add(ontologyTermService.retrieveTermById(oId)); } } @@ -157,8 +152,8 @@ public MappingDto updateMapping(@PathVariable String projectId, @PathVariable St /** * Deleting mapping suggestions associated with the new ontology terms */ - for (String oId : ontologyTermIds) { - mappingSuggestionsService.deleteMappingSuggestions(entity.getId(), oId); + for (String oId : ontologyTermMap.keySet()) { + mappingSuggestionsService.deleteMappingSuggestions(entity.getId(), ontologyTermMap.get(oId), provenance); } /** * Create mapping suggestions associated with the old ontology terms @@ -187,18 +182,25 @@ public void deleteMapping(@PathVariable String projectId, @PathVariable String m Entity entity = entityService.retrieveEntity(mapping.getEntityId()); List ontoTermIds = mapping.getOntologyTermIds(); + Map ontologyTermMap = new LinkedHashMap<>(); + Map metadata = new LinkedHashMap<>(); + for (String ontoTermId : ontoTermIds) { + OntologyTerm ontologyTerm = ontologyTermService.retrieveTermById(ontoTermId); + ontologyTermMap.put(ontoTermId, ontologyTerm); + metadata.put(ontologyTerm.getCurie(), ontologyTerm.getLabel()); + } + /** * Delete mapping. */ - mappingService.deleteMapping(mappingId); + mappingService.deleteMapping(mappingId, provenance, metadata); entity = entityService.updateMappingStatus(entity, EntityStatus.SUGGESTIONS_PROVIDED); /** * Re-create mapping suggestions. */ - for (String ontoTermId : ontoTermIds) { - OntologyTerm ontologyTerm = ontologyTermService.retrieveTermById(ontoTermId); - mappingSuggestionsService.createMappingSuggestion(entity, ontologyTerm, provenance); + for (String ontoTermId : ontologyTermMap.keySet()) { + mappingSuggestionsService.createMappingSuggestion(entity, ontologyTermMap.get(ontoTermId), provenance); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java index dc42889..9d28c0e 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java @@ -4,6 +4,7 @@ import com.fasterxml.jackson.annotation.JsonInclude; import com.fasterxml.jackson.annotation.JsonProperty; import lombok.EqualsAndHashCode; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.audit.AuditEntryDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingSuggestionDto; @@ -45,6 +46,9 @@ public final class EntityDto implements Serializable { @JsonProperty("mapping") private final MappingDto mapping; + @JsonProperty("auditTrail") + private final List auditTrail; + @JsonCreator public EntityDto(@JsonProperty("id") String id, @JsonProperty("source") SourceDto source, @@ -54,6 +58,7 @@ public EntityDto(@JsonProperty("id") String id, @JsonProperty("mappingStatus") String mappingStatus, @JsonProperty("mappingSuggestions") List mappingSuggestions, @JsonProperty("mapping") MappingDto mapping, + @JsonProperty("auditTrail") List auditTrail, @JsonProperty("created") ProvenanceDto created) { this.id = id; this.source = source; @@ -63,6 +68,7 @@ public EntityDto(@JsonProperty("id") String id, this.mappingStatus = mappingStatus; this.mappingSuggestions = mappingSuggestions; this.mapping = mapping; + this.auditTrail = auditTrail; this.created = created; } @@ -102,4 +108,8 @@ public String getUpstreamId() { public String getUpstreamField() { return upstreamField; } + + public List getAuditTrail() { + return auditTrail; + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProvenanceDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProvenanceDto.java index 3a7da40..9dfcd67 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProvenanceDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProvenanceDto.java @@ -10,7 +10,7 @@ import uk.ac.ebi.spot.ontotools.curation.util.JsonJodaDateTimeDeserializer; import uk.ac.ebi.spot.ontotools.curation.util.JsonJodaDateTimeSerializer; -import javax.validation.constraints.NotNull; +import javax.validation.constraints.NotEmpty; import java.io.Serializable; @EqualsAndHashCode @@ -19,12 +19,12 @@ public final class ProvenanceDto implements Serializable { private static final long serialVersionUID = -527759108725584128L; - @NotNull + @NotEmpty @JsonSerialize(using = JsonJodaDateTimeSerializer.class) @JsonProperty("timestamp") private final DateTime timestamp; - @NotNull + @NotEmpty @JsonProperty("user") private final UserDto user; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/AuditEntryDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/AuditEntryDto.java new file mode 100644 index 0000000..2d3d16e --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/AuditEntryDto.java @@ -0,0 +1,66 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.audit; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import com.fasterxml.jackson.databind.annotation.JsonDeserialize; +import com.fasterxml.jackson.databind.annotation.JsonSerialize; +import lombok.EqualsAndHashCode; +import org.joda.time.DateTime; +import uk.ac.ebi.spot.ontotools.curation.util.JsonJodaDateTimeDeserializer; +import uk.ac.ebi.spot.ontotools.curation.util.JsonJodaDateTimeSerializer; + +import javax.validation.constraints.NotEmpty; +import java.io.Serializable; +import java.util.List; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class AuditEntryDto implements Serializable { + + private static final long serialVersionUID = 1202550557817376005L; + + @NotEmpty + @JsonProperty("action") + private final String action; + + @NotEmpty + @JsonProperty("user") + private final AuditUserDto user; + + @JsonProperty("metadata") + private final List metadata; + + @NotEmpty + @JsonProperty("timestamp") + @JsonSerialize(using = JsonJodaDateTimeSerializer.class) + private final DateTime timestamp; + + + @JsonCreator + public AuditEntryDto(@JsonProperty("action") String action, + @JsonProperty("user") AuditUserDto user, + @JsonProperty("metadata") List metadata, + @JsonProperty("timestamp") @JsonDeserialize(using = JsonJodaDateTimeDeserializer.class) DateTime timestamp) { + this.action = action; + this.user = user; + this.metadata = metadata; + this.timestamp = timestamp; + } + + public String getAction() { + return action; + } + + public AuditUserDto getUser() { + return user; + } + + public List getMetadata() { + return metadata; + } + + public DateTime getTimestamp() { + return timestamp; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/AuditUserDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/AuditUserDto.java new file mode 100644 index 0000000..7af23c6 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/AuditUserDto.java @@ -0,0 +1,36 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.audit; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class AuditUserDto implements Serializable { + + private static final long serialVersionUID = -3429229879698902802L; + + @JsonProperty("name") + private final String name; + + @JsonProperty("email") + private final String email; + + @JsonCreator + public AuditUserDto(@JsonProperty("name") String name, + @JsonProperty("email") String email) { + this.name = name; + this.email = email; + } + + public String getName() { + return name; + } + + public String getEmail() { + return email; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/MetadataEntryDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/MetadataEntryDto.java new file mode 100644 index 0000000..6e62b77 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/MetadataEntryDto.java @@ -0,0 +1,39 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.audit; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import javax.validation.constraints.NotEmpty; +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class MetadataEntryDto implements Serializable { + + private static final long serialVersionUID = -2731589237887840195L; + + @NotEmpty + @JsonProperty("key") + private final String key; + + @NotEmpty + @JsonProperty("value") + private final String value; + + @JsonCreator + public MetadataEntryDto(@JsonProperty("key") String key, + @JsonProperty("value") String value) { + this.key = key; + this.value = value; + } + + public String getKey() { + return key; + } + + public String getValue() { + return value; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/AuditEntryService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/AuditEntryService.java new file mode 100644 index 0000000..c551245 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/AuditEntryService.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.service; + +import uk.ac.ebi.spot.ontotools.curation.domain.AuditEntry; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; + +import java.util.List; +import java.util.Map; + +public interface AuditEntryService { + + void addEntry(String action, String entityId, Provenance provenance, Map metadata); + + List retrieveAuditEntries(String entityId); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java index 8ed513a..95f57a0 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java @@ -22,7 +22,7 @@ public interface MappingService { Mapping addCommentToMapping(String mappingId, String body, Provenance provenance); - Mapping updateMapping(String mappingId, List ontologyTermIds); + Mapping updateMapping(String mappingId, List ontologyTerms, Provenance provenance); - void deleteMapping(String mappingId); + void deleteMapping(String mappingId, Provenance provenance, Map metadata); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingSuggestionsService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingSuggestionsService.java index bb06623..b1e3c43 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingSuggestionsService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingSuggestionsService.java @@ -12,11 +12,11 @@ public interface MappingSuggestionsService { MappingSuggestion createMappingSuggestion(Entity entity, OntologyTerm ontologyTerm, Provenance provenance); - void deleteMappingSuggestionsExcluding(Entity entity, List ontologyTerms); + void deleteMappingSuggestionsExcluding(Entity entity, List ontologyTerms, Provenance provenance); Map> retrieveMappingSuggestionsForEntities(List entityIds); List retrieveMappingSuggestionsForEntity(String entityId); - void deleteMappingSuggestions(String entityId, String ontologyTermId); + void deleteMappingSuggestions(String entityId, OntologyTerm ontologyTerm, Provenance provenance); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/AuditEntryServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/AuditEntryServiceImpl.java new file mode 100644 index 0000000..5d158e9 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/AuditEntryServiceImpl.java @@ -0,0 +1,38 @@ +package uk.ac.ebi.spot.ontotools.curation.service.impl; + +import org.joda.time.DateTime; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.scheduling.annotation.Async; +import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.domain.AuditEntry; +import uk.ac.ebi.spot.ontotools.curation.domain.MetadataEntry; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; +import uk.ac.ebi.spot.ontotools.curation.repository.AuditEntryRepository; +import uk.ac.ebi.spot.ontotools.curation.service.AuditEntryService; + +import java.util.ArrayList; +import java.util.List; +import java.util.Map; + +@Service +public class AuditEntryServiceImpl implements AuditEntryService { + + @Autowired + private AuditEntryRepository auditEntryRepository; + + @Override + @Async + public void addEntry(String action, String entityId, Provenance provenance, Map metadata) { + List metadataEntryList = new ArrayList<>(); + for (String key : metadata.keySet()) { + metadataEntryList.add(new MetadataEntry(key, metadata.get(key))); + } + + auditEntryRepository.insert(new AuditEntry(null, entityId, action, provenance, metadataEntryList, DateTime.now())); + } + + @Override + public List retrieveAuditEntries(String entityId) { + return auditEntryRepository.findByEntityIdOrderByTimestampDesc(entityId); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java index b7d11de..c0e4639 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java @@ -4,6 +4,7 @@ import org.slf4j.LoggerFactory; import org.springframework.beans.factory.annotation.Autowired; import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.constants.AuditEntryConstants; import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.Review; @@ -13,6 +14,7 @@ import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.exception.EntityNotFoundException; import uk.ac.ebi.spot.ontotools.curation.repository.MappingRepository; +import uk.ac.ebi.spot.ontotools.curation.service.AuditEntryService; import uk.ac.ebi.spot.ontotools.curation.service.MappingService; import uk.ac.ebi.spot.ontotools.curation.service.OntologyTermService; @@ -29,6 +31,9 @@ public class MappingServiceImpl implements MappingService { @Autowired private OntologyTermService ontologyTermService; + @Autowired + private AuditEntryService auditEntryService; + @Override public Mapping createMapping(Entity entity, OntologyTerm ontologyTerm, Provenance provenance) { log.info("Creating mapping for entity [{}]: {}", entity.getName(), ontologyTerm.getCurie()); @@ -43,13 +48,15 @@ public Mapping createMapping(Entity entity, OntologyTerm ontologyTerm, Provenanc Mapping created = mappingRepository.insert(new Mapping(null, entity.getId(), Arrays.asList(new String[]{ontologyTerm.getId()}), entity.getProjectId(), false, new ArrayList<>(), new ArrayList<>(), MappingStatus.AWAITING_REVIEW.name(), provenance, null)); created.setOntologyTerms(Arrays.asList(new OntologyTerm[]{ontologyTerm})); + + auditEntryService.addEntry(AuditEntryConstants.ADDED_MAPPING.name(), entity.getId(), provenance, Map.of(ontologyTerm.getIri(), ontologyTerm.getLabel())); log.info("Mapping for between entity [{}] and ontology term [{}] created: {}", entity.getName(), ontologyTerm.getCurie(), created.getId()); return created; } @Override - public Mapping updateMapping(String mappingId, List ontologyTermIds) { - log.info("Updating mapping [{}]: {}", mappingId, ontologyTermIds); + public Mapping updateMapping(String mappingId, List ontologyTerms, Provenance provenance) { + log.info("Updating mapping [{}]: {}", mappingId, ontologyTerms); Optional mappingOp = mappingRepository.findById(mappingId); if (!mappingOp.isPresent()) { log.error("Mapping not found: {}", mappingId); @@ -57,12 +64,20 @@ public Mapping updateMapping(String mappingId, List ontologyTermIds) { } Mapping mapping = mappingOp.get(); + List ontologyTermIds = new ArrayList<>(); mapping.setOntologyTermIds(ontologyTermIds); + Map metadata = new LinkedHashMap<>(); + for (OntologyTerm ontologyTerm : ontologyTerms) { + ontologyTermIds.add(ontologyTerm.getId()); + metadata.put(ontologyTerm.getCurie(), ontologyTerm.getLabel()); + } + + auditEntryService.addEntry(AuditEntryConstants.UPDATED_MAPPING.name(), mappingOp.get().getEntityId(), provenance, metadata); return mappingRepository.save(mapping); } @Override - public void deleteMapping(String mappingId) { + public void deleteMapping(String mappingId, Provenance provenance, Map metadata) { Optional mappingOp = mappingRepository.findById(mappingId); if (!mappingOp.isPresent()) { log.error("Mapping not found: {}", mappingId); @@ -70,6 +85,7 @@ public void deleteMapping(String mappingId) { } mappingRepository.delete(mappingOp.get()); + auditEntryService.addEntry(AuditEntryConstants.REMOVED_MAPPING.name(), mappingOp.get().getEntityId(), provenance, metadata); } @Override @@ -128,23 +144,6 @@ public Mapping retrieveMappingForEntity(String entityId) { return null; } - - /* - @Override - public List deleteMappingExcluding(Entity entity, String ontologyTermId) { - log.info("Deleting mappings for entity [{}] excluding ontology term: {}", entity.getId(), ontologyTermId); - List mappings = mappingRepository.findByEntityId(entity.getId()); - List result = new ArrayList<>(); - for (Mapping mapping : mappings) { - if (!mapping.getOntologyTermIds().contains(ontologyTermId)) { - result.add(mapping.getOntologyTermId()); - mappingRepository.delete(mapping); - } - } - return result; - } - */ - @Override public Mapping addReviewToMapping(String mappingId, String comment, int noReviewsRequired, Provenance provenance) { log.info("Adding review to mapping: {}", mappingId); @@ -157,6 +156,8 @@ public Mapping addReviewToMapping(String mappingId, String comment, int noReview mapping.setStatus(MappingStatus.REVIEW_IN_PROGRESS.name()); mapping.addReview(new Review(comment, provenance), noReviewsRequired); mapping = mappingRepository.save(mapping); + auditEntryService.addEntry(AuditEntryConstants.REVIEWED.name(), mappingOp.get().getEntityId(), provenance, + comment != null ? Map.of("COMMENT", comment) : new HashMap<>()); return mapping; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java index 42987a1..a132361 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java @@ -5,11 +5,13 @@ import org.springframework.beans.factory.annotation.Autowired; import org.springframework.scheduling.annotation.Async; import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.constants.AuditEntryConstants; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.MappingSuggestion; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; -import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.repository.MappingSuggestionRepository; +import uk.ac.ebi.spot.ontotools.curation.service.AuditEntryService; import uk.ac.ebi.spot.ontotools.curation.service.MappingSuggestionsService; import uk.ac.ebi.spot.ontotools.curation.service.OntologyTermService; @@ -27,6 +29,9 @@ public class MappingSuggestionsServiceImpl implements MappingSuggestionsService @Autowired private OntologyTermService ontologyTermService; + @Autowired + private AuditEntryService auditEntryService; + @Override public MappingSuggestion createMappingSuggestion(Entity entity, OntologyTerm ontologyTerm, Provenance provenance) { log.info("Creating mapping suggestion for entity [{}]: {}", entity.getName(), ontologyTerm.getCurie()); @@ -37,18 +42,26 @@ public MappingSuggestion createMappingSuggestion(Entity entity, OntologyTerm ont } MappingSuggestion created = mappingSuggestionRepository.insert(new MappingSuggestion(null, entity.getId(), ontologyTerm.getId(), entity.getProjectId(), provenance, null)); + auditEntryService.addEntry(AuditEntryConstants.ADDED_SUGGESTION.name(), entity.getId(), provenance, Map.of(ontologyTerm.getIri(), ontologyTerm.getLabel())); log.info("[{} | {}] Mapping suggestion created: {}", entity.getName(), ontologyTerm.getCurie(), created.getId()); return created; } @Override @Async - public void deleteMappingSuggestionsExcluding(Entity entity, List ontologyTerms) { + public void deleteMappingSuggestionsExcluding(Entity entity, List ontologyTerms, Provenance provenance) { log.info("Deleting [{}] old mapping suggestions for: {}", ontologyTerms.size(), entity.getName()); - List ontologyTermIds = ontologyTerms.stream().map(OntologyTerm::getId).collect(Collectors.toList()); + List ontologyTermIds = new ArrayList<>(); + Map metadata = new LinkedHashMap<>(); + for (OntologyTerm ontologyTerm : ontologyTerms) { + ontologyTermIds.add(ontologyTerm.getId()); + metadata.put(ontologyTerm.getCurie(), ontologyTerm.getLabel()); + } List toDelete = mappingSuggestionRepository.findByEntityIdAndOntologyTermIdNotIn(entity.getId(), ontologyTermIds); log.info("[{}] Found {} mapping suggestions to delete.", entity.getName(), toDelete.size()); mappingSuggestionRepository.deleteAll(toDelete); + + auditEntryService.addEntry(AuditEntryConstants.REMOVED_SUGGESTION.name(), entity.getId(), provenance, metadata); } @Override @@ -92,13 +105,14 @@ public List retrieveMappingSuggestionsForEntity(String entity } @Override - public void deleteMappingSuggestions(String entityId, String ontologyTermId) { - log.info("Deleting mapping suggestions for entity [{}] with ontology term: {}", entityId, ontologyTermId); + public void deleteMappingSuggestions(String entityId, OntologyTerm ontologyTerm, Provenance provenance) { + log.info("Deleting mapping suggestions for entity [{}] with ontology term: {}", entityId, ontologyTerm.getId()); List mappingSuggestions = mappingSuggestionRepository.findByEntityId(entityId); for (MappingSuggestion mappingSuggestion : mappingSuggestions) { - if (mappingSuggestion.getOntologyTermId().equalsIgnoreCase(ontologyTermId)) { + if (mappingSuggestion.getOntologyTermId().equalsIgnoreCase(ontologyTerm.getId())) { mappingSuggestionRepository.delete(mappingSuggestion); } } + auditEntryService.addEntry(AuditEntryConstants.REMOVED_SUGGESTION.name(), entityId, provenance, Map.of(ontologyTerm.getIri(), ontologyTerm.getLabel())); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java index 8b32810..984ff6e 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java @@ -139,7 +139,7 @@ private void autoMap(Entity entity, Project project, User user) { } log.info(" -- Final IRIs and terms created: {}", finalIRIs, termsCreated); - mappingSuggestionsService.deleteMappingSuggestionsExcluding(entity, termsCreated); + mappingSuggestionsService.deleteMappingSuggestionsExcluding(entity, termsCreated, provenance); } } From 9dd0c933aa7deae1532a11ce611d8f49c0e182fc Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Mon, 8 Mar 2021 21:14:23 +0800 Subject: [PATCH 33/72] WIP: Adding audit trail for entities. Added test classes. --- .../curation/rest/dto/audit/AuditEntryDtoTest.java | 14 ++++++++++++++ .../curation/rest/dto/audit/AuditUserDtoTest.java | 14 ++++++++++++++ .../rest/dto/audit/MetadataEntryDtoTest.java | 14 ++++++++++++++ 3 files changed, 42 insertions(+) create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/AuditEntryDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/AuditUserDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/MetadataEntryDtoTest.java diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/AuditEntryDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/AuditEntryDtoTest.java new file mode 100644 index 0000000..020deb1 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/AuditEntryDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.audit; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class AuditEntryDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(AuditEntryDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/AuditUserDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/AuditUserDtoTest.java new file mode 100644 index 0000000..8765d7e --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/AuditUserDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.audit; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class AuditUserDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(AuditUserDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/MetadataEntryDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/MetadataEntryDtoTest.java new file mode 100644 index 0000000..f37c202 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/MetadataEntryDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.audit; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class MetadataEntryDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(MetadataEntryDto.class) + .verify(); + } + +} \ No newline at end of file From 87da24b4adf547676c17924c6a84fc4d9e33bcb3 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Mon, 8 Mar 2021 21:43:15 +0800 Subject: [PATCH 34/72] Fixed incorrect field used in compositeIndex. --- .../ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java index e6f9b03..a36b75c 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java @@ -22,7 +22,7 @@ @Setter @AllArgsConstructor @NoArgsConstructor -@CompoundIndexes({@CompoundIndex(name = "eoId", def = "{'entityId': 1, 'ontologyTermId': 1}")}) +@CompoundIndexes({@CompoundIndex(name = "eoId", def = "{'entityId': 1, 'ontologyTermIds': 1}")}) public class Mapping { @Id From 7e8a5459f9cc2684cb861a0ef8909885e02ff81f Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Tue, 9 Mar 2021 21:12:48 +0800 Subject: [PATCH 35/72] Added tests for audit trail. Fixed java version in pom.xml. --- pom.xml | 1 + .../rest/controller/MappingsController.java | 2 +- .../ontotools/curation/IntegrationTest.java | 6 +- .../MappingReviewsControllerTest.java | 24 +++++-- .../curation/MappingsControllerTest.java | 63 +++++++++++++++---- 5 files changed, 75 insertions(+), 21 deletions(-) diff --git a/pom.xml b/pom.xml index 359d0a6..68efe24 100644 --- a/pom.xml +++ b/pom.xml @@ -21,6 +21,7 @@ UTF-8 uk.ac.ebi.spot.ontotools.curation.Application + 1.9 2.4.2 5.3.3 diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java index 1007cba..eab7296 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java @@ -187,7 +187,7 @@ public void deleteMapping(@PathVariable String projectId, @PathVariable String m for (String ontoTermId : ontoTermIds) { OntologyTerm ontologyTerm = ontologyTermService.retrieveTermById(ontoTermId); ontologyTermMap.put(ontoTermId, ontologyTerm); - metadata.put(ontologyTerm.getCurie(), ontologyTerm.getLabel()); + metadata.put(ontologyTerm.getIri(), ontologyTerm.getLabel()); } /** diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index a981dc4..65fbaa9 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -171,7 +171,7 @@ protected ProjectDto createProject(String name, String token, .getResponse() .getContentAsString(); - ProjectDto actual = mapper.readValue(response, new TypeReference() { + ProjectDto actual = mapper.readValue(response, new TypeReference<>() { }); assertEquals(projectCreationDto.getName(), actual.getName()); assertEquals(projectCreationDto.getDescription(), actual.getDescription()); @@ -213,7 +213,7 @@ protected SourceDto createSource(String projectId) throws Exception { .getResponse() .getContentAsString(); - SourceDto actual = mapper.readValue(response, new TypeReference() { + SourceDto actual = mapper.readValue(response, new TypeReference<>() { }); assertEquals(sourceCreationDto.getName(), actual.getName()); assertEquals(sourceCreationDto.getDescription(), actual.getDescription()); @@ -249,7 +249,7 @@ protected List retrieveMapping(String projectId) throws Exception { .getResponse() .getContentAsString(); - List actual = mapper.readValue(response, new TypeReference>() { + List actual = mapper.readValue(response, new TypeReference<>() { }); return actual; } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java index f255ec8..180d46f 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java @@ -5,13 +5,11 @@ import org.springframework.beans.factory.annotation.Autowired; import org.springframework.http.MediaType; import org.springframework.test.context.ContextConfiguration; -import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; -import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; -import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; -import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; +import uk.ac.ebi.spot.ontotools.curation.constants.*; import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; import uk.ac.ebi.spot.ontotools.curation.rest.assembler.ProvenanceDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.EntityDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingDto; @@ -77,7 +75,7 @@ public void shouldCreateReview() throws Exception { .getResponse() .getContentAsString(); - ReviewDto reviewDto = mapper.readValue(response, new TypeReference() { + ReviewDto reviewDto = mapper.readValue(response, new TypeReference<>() { }); assertEquals("New review", reviewDto.getComment()); Mapping mapping = mappingService.retrieveMappingById(mappingDto.getId()); @@ -85,6 +83,22 @@ public void shouldCreateReview() throws Exception { assertEquals("New review", mapping.getReviews().get(0).getComment()); assertFalse(mapping.isReviewed()); assertEquals(MappingStatus.REVIEW_IN_PROGRESS.name(), mapping.getStatus()); + + + endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_ENTITIES + "/" + entity.getId(); + response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + EntityDto actualEntity = mapper.readValue(response, new TypeReference<>() { + }); + assertEquals(1, actualEntity.getAuditTrail().size()); + assertEquals(AuditEntryConstants.REVIEWED.name(), actualEntity.getAuditTrail().get(0).getAction()); } /** diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java index ca2c9a1..d16fc9e 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java @@ -12,6 +12,7 @@ import uk.ac.ebi.spot.ontotools.curation.rest.dto.EntityDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.audit.AuditEntryDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingCreationDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingSuggestionDto; @@ -85,7 +86,7 @@ public void shouldCreateMapping() throws Exception { .getResponse() .getContentAsString(); - MappingDto actual = mapper.readValue(response, new TypeReference() { + MappingDto actual = mapper.readValue(response, new TypeReference<>() { }); assertEquals(1, actual.getOntologyTerms().size()); @@ -102,7 +103,7 @@ public void shouldCreateMapping() throws Exception { .getResponse() .getContentAsString(); - EntityDto actualEntity = mapper.readValue(response, new TypeReference() { + EntityDto actualEntity = mapper.readValue(response, new TypeReference<>() { }); assertEquals(EntityStatus.MANUALLY_MAPPED.name(), actualEntity.getMappingStatus()); @@ -116,6 +117,20 @@ public void shouldCreateMapping() throws Exception { assertEquals("Orphanet:15", actualEntity.getMappingSuggestions().get(0).getOntologyTerm().getCurie()); assertEquals(sourceDto.getId(), actualEntity.getSource().getId()); + + assertEquals(2, actualEntity.getAuditTrail().size()); + for (AuditEntryDto auditEntryDto : actualEntity.getAuditTrail()) { + assertTrue(auditEntryDto.getAction().equalsIgnoreCase(AuditEntryConstants.ADDED_MAPPING.name()) || + auditEntryDto.getAction().equalsIgnoreCase(AuditEntryConstants.REMOVED_SUGGESTION.name())); + if (auditEntryDto.getAction().equalsIgnoreCase(AuditEntryConstants.REMOVED_SUGGESTION.name())) { + assertEquals(1, auditEntryDto.getMetadata().size()); + assertEquals("http://purl.obolibrary.org/obo/MONDO_0007037", auditEntryDto.getMetadata().get(0).getKey()); + } + if (auditEntryDto.getAction().equalsIgnoreCase(AuditEntryConstants.ADDED_MAPPING.name())) { + assertEquals(1, auditEntryDto.getMetadata().size()); + assertEquals("http://purl.obolibrary.org/obo/MONDO_0007037", auditEntryDto.getMetadata().get(0).getKey()); + } + } } /** @@ -138,7 +153,7 @@ public void shouldUpdateMapping() throws Exception { .getResponse() .getContentAsString(); - MappingDto actual = mapper.readValue(response, new TypeReference() { + MappingDto actual = mapper.readValue(response, new TypeReference<>() { }); assertEquals(2, actual.getOntologyTerms().size()); List curies = new ArrayList<>(); @@ -159,7 +174,7 @@ public void shouldUpdateMapping() throws Exception { .getResponse() .getContentAsString(); - EntityDto actualEntity = mapper.readValue(response, new TypeReference() { + EntityDto actualEntity = mapper.readValue(response, new TypeReference<>() { }); assertEquals(EntityStatus.MANUALLY_MAPPED.name(), actualEntity.getMappingStatus()); @@ -168,6 +183,21 @@ public void shouldUpdateMapping() throws Exception { assertEquals(2, actualEntity.getMapping().getOntologyTerms().size()); assertEquals(0, actualEntity.getMappingSuggestions().size()); + assertEquals(3, actualEntity.getAuditTrail().size()); + + int noRemovedSuggestions = 0; + int noUpdatedMapping = 0; + for (AuditEntryDto auditEntryDto : actualEntity.getAuditTrail()) { + if (auditEntryDto.getAction().equalsIgnoreCase(AuditEntryConstants.UPDATED_MAPPING.name())) { + noUpdatedMapping++; + } + if (auditEntryDto.getAction().equalsIgnoreCase(AuditEntryConstants.REMOVED_SUGGESTION.name())) { + noRemovedSuggestions++; + } + } + + assertEquals(2, noRemovedSuggestions); + assertEquals(1, noUpdatedMapping); } /** @@ -175,6 +205,7 @@ public void shouldUpdateMapping() throws Exception { */ @Test public void shouldDeleteMapping() throws Exception { + mappingSuggestionRepository.deleteAll(); List actual = super.retrieveMapping(project.getId()); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + actual.get(0).getId(); @@ -193,21 +224,29 @@ public void shouldDeleteMapping() throws Exception { .getResponse() .getContentAsString(); - EntityDto actualEntity = mapper.readValue(response, new TypeReference() { + EntityDto actualEntity = mapper.readValue(response, new TypeReference<>() { }); assertEquals(EntityStatus.SUGGESTIONS_PROVIDED.name(), actualEntity.getMappingStatus()); assertNull(actualEntity.getMapping()); - assertEquals(2, actualEntity.getMappingSuggestions().size()); - List curies = new ArrayList<>(); - for (MappingSuggestionDto mappingSuggestionDto : actualEntity.getMappingSuggestions()) { - curies.add(mappingSuggestionDto.getOntologyTerm().getCurie()); - } + assertEquals(1, actualEntity.getMappingSuggestions().size()); + assertEquals("Orphanet:15", actualEntity.getMappingSuggestions().get(0).getOntologyTerm().getCurie()); - assertTrue(curies.contains("Orphanet:15")); - assertTrue(curies.contains("MONDO:0007037")); + assertEquals(2, actualEntity.getAuditTrail().size()); + for (AuditEntryDto auditEntryDto : actualEntity.getAuditTrail()) { + assertTrue(auditEntryDto.getAction().equalsIgnoreCase(AuditEntryConstants.REMOVED_MAPPING.name()) || + auditEntryDto.getAction().equalsIgnoreCase(AuditEntryConstants.ADDED_SUGGESTION.name())); + if (auditEntryDto.getAction().equalsIgnoreCase(AuditEntryConstants.ADDED_SUGGESTION.name())) { + assertEquals(1, auditEntryDto.getMetadata().size()); + assertEquals("http://www.orpha.net/ORDO/Orphanet_15", auditEntryDto.getMetadata().get(0).getKey()); + } + if (auditEntryDto.getAction().equalsIgnoreCase(AuditEntryConstants.REMOVED_MAPPING.name())) { + assertEquals(1, auditEntryDto.getMetadata().size()); + assertEquals("http://www.orpha.net/ORDO/Orphanet_15", auditEntryDto.getMetadata().get(0).getKey()); + } + } } /** From 65dc11fb4f8325d076f64b5ed93541d59fd125ef Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Wed, 10 Mar 2021 21:13:03 +0800 Subject: [PATCH 36/72] Added 'priority' field to entities. --- .../ontotools/curation/domain/mapping/Entity.java | 5 +++++ .../curation/rest/controller/SourcesController.java | 2 +- .../rest/dto/dataimport/ImportDataElementDto.java | 11 ++++++++++- .../curation/rest/dto/export/ExportEntityDto.java | 9 +++++++++ .../curation/service/impl/AuditEntryServiceImpl.java | 2 +- .../curation/service/impl/DataImportServiceImpl.java | 5 +++-- .../curation/service/impl/EntityDataCollector.java | 1 + .../ebi/spot/ontotools/curation/IntegrationTest.java | 2 +- .../ontotools/curation/MatchMakingContolledTest.java | 2 +- .../ebi/spot/ontotools/curation/MatchMakingTest.java | 2 +- .../ontotools/curation/PublicDataControllerTest.java | 2 +- 11 files changed, 34 insertions(+), 9 deletions(-) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Entity.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Entity.java index d3995bb..308732d 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Entity.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Entity.java @@ -5,6 +5,8 @@ import lombok.NoArgsConstructor; import lombok.Setter; import org.springframework.data.annotation.Id; +import org.springframework.data.mongodb.core.index.CompoundIndex; +import org.springframework.data.mongodb.core.index.CompoundIndexes; import org.springframework.data.mongodb.core.index.Indexed; import org.springframework.data.mongodb.core.mapping.Document; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; @@ -15,6 +17,7 @@ @Setter @NoArgsConstructor @AllArgsConstructor +@CompoundIndexes({@CompoundIndex(name = "ppIdx", def = "{'projectId': 1, 'priority': 1}")}) public class Entity { @Id @@ -32,6 +35,8 @@ public class Entity { @Indexed private String projectId; + private Integer priority; + private Provenance created; private EntityStatus mappingStatus; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java index 2579fe0..603d201 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java @@ -111,7 +111,7 @@ public void addDataToSource(@RequestBody List entities, @PathVariable St Source source = sourceService.getSource(sourceId, projectId); for (String entity : entities) { entityService.createEntity(new Entity(null, entity, null, null, source.getId(), - projectId, new Provenance(user.getName(), user.getEmail(), DateTime.now()), EntityStatus.UNMAPPED)); + projectId, null, new Provenance(user.getName(), user.getEmail(), DateTime.now()), EntityStatus.UNMAPPED)); } matchmakerService.runMatchmaking(sourceId, projectService.retrieveProject(projectId, user)); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataElementDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataElementDto.java index 6d0880c..b4777be 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataElementDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataElementDto.java @@ -24,13 +24,18 @@ public final class ImportDataElementDto implements Serializable { @JsonProperty("upstreamField") private final String upstreamField; + @JsonProperty("priority") + private final Integer priority; + @JsonCreator public ImportDataElementDto(@JsonProperty("text") String text, @JsonProperty("upstreamId") String upstreamId, - @JsonProperty("upstreamField") String upstreamField) { + @JsonProperty("upstreamField") String upstreamField, + @JsonProperty("priority") Integer priority) { this.upstreamId = upstreamId; this.text = text; this.upstreamField = upstreamField; + this.priority = priority; } public String getText() { @@ -44,4 +49,8 @@ public String getUpstreamId() { public String getUpstreamField() { return upstreamField; } + + public Integer getPriority() { + return priority; + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportEntityDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportEntityDto.java index 598e3ae..ce01d73 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportEntityDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportEntityDto.java @@ -23,6 +23,9 @@ public final class ExportEntityDto implements Serializable { @JsonProperty("upstreamField") private final String upstreamField; + @JsonProperty("priority") + private final Integer priority; + @JsonProperty("mappingSuggestions") private final List mappingSuggestions; @@ -33,6 +36,7 @@ public final class ExportEntityDto implements Serializable { public ExportEntityDto(@JsonProperty("name") String name, @JsonProperty("upstreamId") String upstreamId, @JsonProperty("upstreamField") String upstreamField, + @JsonProperty("priority") Integer priority, @JsonProperty("mappingSuggestions") List mappingSuggestions, @JsonProperty("mapping") ExportMappingDto mapping) { this.name = name; @@ -40,6 +44,7 @@ public ExportEntityDto(@JsonProperty("name") String name, this.upstreamField = upstreamField; this.mappingSuggestions = mappingSuggestions; this.mapping = mapping; + this.priority = priority; } public String getName() { @@ -62,4 +67,8 @@ public List getMappingSuggestions() { public ExportMappingDto getMapping() { return mapping; } + + public Integer getPriority() { + return priority; + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/AuditEntryServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/AuditEntryServiceImpl.java index 5d158e9..2d04c11 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/AuditEntryServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/AuditEntryServiceImpl.java @@ -21,7 +21,7 @@ public class AuditEntryServiceImpl implements AuditEntryService { private AuditEntryRepository auditEntryRepository; @Override - @Async + @Async(value = "applicationTaskExecutor") public void addEntry(String action, String entityId, Provenance provenance, Map metadata) { List metadataEntryList = new ArrayList<>(); for (String key : metadata.keySet()) { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java index 1b01f81..43ae173 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java @@ -59,8 +59,9 @@ public void importData(String fileData, String projectId, String sourceId, User log.info("Creating entities ..."); int count = 0; for (ImportDataElementDto importDataElementDto : importDataPackageDto.getData()) { - entityService.createEntity(new Entity(null, importDataElementDto.getText(), importDataElementDto.getUpstreamId(), importDataElementDto.getUpstreamField(), - sourceId, projectId, provenance, EntityStatus.UNMAPPED)); + entityService.createEntity(new Entity(null, importDataElementDto.getText(), + importDataElementDto.getUpstreamId(), importDataElementDto.getUpstreamField(), + sourceId, projectId, importDataElementDto.getPriority(), provenance, EntityStatus.UNMAPPED)); count++; if (count % 100 == 0) { log.info(" -- [{} | {}] Progress: {} of {}", projectId, sourceId, count, importDataPackageDto.getData().size()); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityDataCollector.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityDataCollector.java index 67fbda5..634f734 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityDataCollector.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityDataCollector.java @@ -53,6 +53,7 @@ public void add(Entity entity, Mapping mapping, List mappingS exportEntityDtos.add(new ExportEntityDto(entity.getName(), entity.getBaseId(), entity.getBaseField(), + entity.getPriority(), mappingSuggestions, exportMappingDto )); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index 65fbaa9..4e5f42c 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -224,7 +224,7 @@ protected SourceDto createSource(String projectId) throws Exception { protected void createEntityTestData(String sourceId, String projectId, User user) { Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); entity = entityRepository.insert(new Entity(null, "Achondroplasia", RandomStringUtils.randomAlphabetic(10), - RandomStringUtils.randomAlphabetic(10), sourceId, projectId, provenance, EntityStatus.AUTO_MAPPED)); + RandomStringUtils.randomAlphabetic(10), sourceId, projectId, null, provenance, EntityStatus.AUTO_MAPPED)); OntologyTerm orphaTerm = ontologyTermRepository.insert(new OntologyTerm(null, "Orphanet:15", "http://www.orpha.net/ORDO/Orphanet_15", DigestUtils.sha256Hex("http://www.orpha.net/ORDO/Orphanet_15"), "Achondroplasia", TermStatus.CURRENT.name(), null, null)); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java index c279f88..ce9b77c 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java @@ -95,7 +95,7 @@ public void setup() throws Exception { * - Retinal dystrophy */ entity = entityService.createEntity(new Entity(null, "Achondroplasia", RandomStringUtils.randomAlphabetic(10), - RandomStringUtils.randomAlphabetic(10), sourceDto.getId(), project.getId(), provenance, EntityStatus.UNMAPPED)); + RandomStringUtils.randomAlphabetic(10), sourceDto.getId(), project.getId(), 10, provenance, EntityStatus.UNMAPPED)); } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java index b3bdf95..0343b2e 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java @@ -81,7 +81,7 @@ public void setup() throws Exception { * - Retinal dystrophy */ entity = entityService.createEntity(new Entity(null, "Achondroplasia", RandomStringUtils.randomAlphabetic(10), - RandomStringUtils.randomAlphabetic(10), sourceDto.getId(), project.getId(), provenance, EntityStatus.UNMAPPED)); + RandomStringUtils.randomAlphabetic(10), sourceDto.getId(), project.getId(), 10, provenance, EntityStatus.UNMAPPED)); } @Test diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/PublicDataControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/PublicDataControllerTest.java index fd2bbc5..b4c6756 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/PublicDataControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/PublicDataControllerTest.java @@ -88,7 +88,7 @@ public void setup() throws Exception { * - Retinal dystrophy */ entity = entityService.createEntity(new Entity(null, "Achondroplasia", RandomStringUtils.randomAlphabetic(10), - RandomStringUtils.randomAlphabetic(10), sourceDto.getId(), project.getId(), provenance, EntityStatus.UNMAPPED)); + RandomStringUtils.randomAlphabetic(10), sourceDto.getId(), project.getId(), 10, provenance, EntityStatus.UNMAPPED)); matchmakerService.runMatchmaking(sourceDto.getId(), project); } From 1180c233912c86b5460b96c46e072d082349f32f Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Thu, 11 Mar 2021 17:37:15 +0800 Subject: [PATCH 37/72] Updated PROD DB details. --- src/main/resources/application.yml | 4 ++-- 1 file changed, 2 insertions(+), 2 deletions(-) diff --git a/src/main/resources/application.yml b/src/main/resources/application.yml index ce48647..467728f 100644 --- a/src/main/resources/application.yml +++ b/src/main/resources/application.yml @@ -62,7 +62,7 @@ spring: on-profile: "prod" data: mongodb: - uri: mongodb-hhvm-062.ebi.ac.uk:27017,mongodb-hxvm-063.ebi.ac.uk:27017/admin?replicaSet=gwasdepodevrs039 + uri: mongos-hx-ontotoolscuratorprors-001.ebi.ac.uk:27017,mongos-hl-ontotoolscuratorprors-002.ebi.ac.uk:27017/admin?replicaSet=ontotoolscuratorprors071 ontotools-curation: - db: ontotools-curation + db: ontotoolscurator From 88ce7ac2227ff3a5362d45dad1d99b07439f36bc Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Thu, 11 Mar 2021 19:48:15 +0800 Subject: [PATCH 38/72] Added temp deployment plan for PROD. --- scripts/config/ontotools-pvc-prod.yml | 13 ++++ ...ontotools-curation-service-deployment.yaml | 72 +++++++++++++++++++ 2 files changed, 85 insertions(+) create mode 100644 scripts/config/ontotools-pvc-prod.yml create mode 100644 scripts/config/prod/ontotools-curation-service-deployment.yaml diff --git a/scripts/config/ontotools-pvc-prod.yml b/scripts/config/ontotools-pvc-prod.yml new file mode 100644 index 0000000..bfaa265 --- /dev/null +++ b/scripts/config/ontotools-pvc-prod.yml @@ -0,0 +1,13 @@ +apiVersion: v1 +kind: PersistentVolumeClaim +metadata: + name: ontotools-curation-logs + namespace: ontotools +spec: + storageClassName: standard-nfs-production + accessModes: + - ReadWriteOnce + resources: + requests: + storage: 5Gi + diff --git a/scripts/config/prod/ontotools-curation-service-deployment.yaml b/scripts/config/prod/ontotools-curation-service-deployment.yaml new file mode 100644 index 0000000..840219d --- /dev/null +++ b/scripts/config/prod/ontotools-curation-service-deployment.yaml @@ -0,0 +1,72 @@ +apiVersion: extensions/v1beta1 +kind: Deployment +metadata: + name: ontotools-curation-service + namespace: ontotools + labels: + version: latest +spec: + replicas: 1 + strategy: + type: RollingUpdate + rollingUpdate: + maxSurge: 1 + maxUnavailable: 0 + template: + metadata: + labels: + app: ontotools-curation-service + spec: + containers: + - name: ontotools-curation-service + image: "ebispot/ontotools-curation-service:latest-sandbox" + imagePullPolicy: Always + resources: + requests: + cpu: 100m + memory: 256Mi + limits: + cpu: 200m + memory: 512Mi + ports: + - name: http + containerPort: 8080 + volumeMounts: + - mountPath: "/var/log/ontotools" + name: log + env: + - name: ENVIRONMENT + value: "prod" + - name: XMS + value: "-Xms256m" + - name: XMX + value: "-Xms256m" + - name: LOG_FILE_NAME + value: "ontotools-curation-service" + - name: DB_USER + value: "" + - name: DB_PASSWORD + valueFrom: + secretKeyRef: + name: ontotools-secrets + key: db-pwd + volumes: + - name: log + persistentVolumeClaim: + claimName: ontotools-curation-logs +--- +kind: Service +apiVersion: v1 +metadata: + labels: + app: ontotools-curation-service + version: latest + name: ontotools-curation-service + namespace: ontotools +spec: + type: NodePort + ports: + - name: "application" + port: 8080 + selector: + app: ontotools-curation-service From 1bec3011ff33e3048987bcefae59bdc21c7e19dd Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Thu, 11 Mar 2021 20:54:33 +0800 Subject: [PATCH 39/72] Added GitLab pipeline to test and build container. No deployment just yet. --- .gitlab-ci.yml | 46 ++++++++++++++++++++++++++++++++++++++++++++++ 1 file changed, 46 insertions(+) create mode 100644 .gitlab-ci.yml diff --git a/.gitlab-ci.yml b/.gitlab-ci.yml new file mode 100644 index 0000000..98ba7b5 --- /dev/null +++ b/.gitlab-ci.yml @@ -0,0 +1,46 @@ +image: docker:latest +services: + - docker:dind + +stages: + - build + - docker + - docker-release + +variables: + DOCKER_DRIVER: overlay2 + DOCKER_TLS_CERTDIR: "" + REGISTRY_IMAGE: ebispot/ontotools-curation-service + SERVICE_NAME: ontotools-curation-service + +maven-build: + image: maven:3-jdk-12 + stage: build + script: + - mvn -clean package -B -Dspring.profiles.active=dev + artifacts: + paths: + - target/*.jar + +build-container: + stage: docker + script: + - echo "$DOCKER_HUB_PASSWORD" > dhpw.txt + - docker login -u "${DOCKER_HUB_USER}" --password-stdin < dhpw.txt + - docker build --cache-from $REGISTRY_IMAGE:latest -t $REGISTRY_IMAGE:$CI_COMMIT_SHA . + - docker push $REGISTRY_IMAGE:$CI_COMMIT_SHA + +build-release: + variables: + GIT_STRATEGY: none + stage: docker-release + script: + - echo "$DOCKER_HUB_PASSWORD" > dhpw.txt + - docker login -u "${DOCKER_HUB_USER}" --password-stdin < dhpw.txt + - docker pull $REGISTRY_IMAGE:$CI_COMMIT_SHA + - docker tag $REGISTRY_IMAGE:$CI_COMMIT_SHA $REGISTRY_IMAGE:latest + - docker tag $REGISTRY_IMAGE:$CI_COMMIT_SHA $REGISTRY_IMAGE:$CI_COMMIT_TAG + - docker push $REGISTRY_IMAGE:latest + - docker push $REGISTRY_IMAGE:$CI_COMMIT_TAG + only: + - tags From 9ebacb96109846d4bca42ccf853ddf819a1e1e50 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Thu, 11 Mar 2021 21:06:41 +0800 Subject: [PATCH 40/72] Fixed typo in GitLab pipeline. Added 'test' environment --- .gitlab-ci.yml | 2 +- .../curation/config/MongoConfig.java | 2 +- src/main/resources/application.yml | 13 ++++++++++ src/main/resources/logback-spring.xml | 25 +++++++++++++++++++ src/main/resources/logging-test.properties | 3 +++ 5 files changed, 43 insertions(+), 2 deletions(-) create mode 100644 src/main/resources/logging-test.properties diff --git a/.gitlab-ci.yml b/.gitlab-ci.yml index 98ba7b5..71fb0e3 100644 --- a/.gitlab-ci.yml +++ b/.gitlab-ci.yml @@ -17,7 +17,7 @@ maven-build: image: maven:3-jdk-12 stage: build script: - - mvn -clean package -B -Dspring.profiles.active=dev + - mvn clean install -B -Dspring.profiles.active=test artifacts: paths: - target/*.jar diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/MongoConfig.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/MongoConfig.java index 0ffa4ed..159c67a 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/MongoConfig.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/MongoConfig.java @@ -18,7 +18,7 @@ public class MongoConfig { @Configuration @EnableMongoRepositories(basePackages = {"uk.ac.ebi.spot.ontotools.curation.repository"}) @EnableTransactionManagement - @Profile({"dev","sandbox"}) + @Profile({"dev","sandbox", "test"}) public static class MongoConfigDevSandbox extends AbstractMongoClientConfiguration { @Autowired diff --git a/src/main/resources/application.yml b/src/main/resources/application.yml index 467728f..a02772b 100644 --- a/src/main/resources/application.yml +++ b/src/main/resources/application.yml @@ -43,6 +43,19 @@ ontotools-curation: --- +spring: + config: + activate: + on-profile: "test" + data: + mongodb: + uri: snoopy.ebi.ac.uk:27017 + +ontotools-curation: + db: ontotools-curation-test + +--- + spring: config: activate: diff --git a/src/main/resources/logback-spring.xml b/src/main/resources/logback-spring.xml index 01af70d..d025d73 100644 --- a/src/main/resources/logback-spring.xml +++ b/src/main/resources/logback-spring.xml @@ -58,6 +58,31 @@ + + + + + + + ${log.file.location}${log.file.name}-%d{yyyy-MM-dd}.%i.log + + + ${log.max.file.size} + + + + ${log.pattern} + + + + + + + + + + diff --git a/src/main/resources/logging-test.properties b/src/main/resources/logging-test.properties new file mode 100644 index 0000000..70cd6b5 --- /dev/null +++ b/src/main/resources/logging-test.properties @@ -0,0 +1,3 @@ +log.max.file.size=1000MB +log.file.location=log/ +log.pattern=%d{"yyyy-MM-dd'T'HH:mm:ss.SSSXXX"} %-5level [%thread] %property{serviceName} %logger{0}: %msg%n From e855ed13a430f1844c80214b6a08f059aad1a742 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Thu, 11 Mar 2021 21:24:15 +0800 Subject: [PATCH 41/72] Added dummy secrets for sandbox. Added deployment entries for all environments in the GitLab pipeline. --- .gitlab-ci.yml | 52 ++++++++++++++++++++++++++++++++++++++ k8chart/values.yaml | 2 +- scripts/config/secret.yaml | 8 ++++++ 3 files changed, 61 insertions(+), 1 deletion(-) create mode 100644 scripts/config/secret.yaml diff --git a/.gitlab-ci.yml b/.gitlab-ci.yml index 71fb0e3..f4bd06f 100644 --- a/.gitlab-ci.yml +++ b/.gitlab-ci.yml @@ -6,6 +6,9 @@ stages: - build - docker - docker-release + - deploy-sandbox + - deploy-fallback + - deploy-live variables: DOCKER_DRIVER: overlay2 @@ -44,3 +47,52 @@ build-release: - docker push $REGISTRY_IMAGE:$CI_COMMIT_TAG only: - tags + +deploy-sandbox: + image: dtzar/helm-kubectl:2.13.1 + stage: deploy-sandbox + script: + - echo "Deploy to sandbox server" + - mkdir -p /root/.kube + - echo ${SANBOX_KUBECONF} | base64 -d > /root/.kube/config + - helm init + - helm delete --purge ontotools-curation-service || true + - helm install --name ontotools-curation-service --set k8Namespace=ontotools,image.repository=$REGISTRY_IMAGE,image.tag=$CI_COMMIT_SHA,image.env.secretsName=ontotools-secrets,image.env.secretsKey=db-pwd ./k8chart/ --wait + environment: + name: sandbox + when: manual + only: + - develop + + +deploy-fallback: + image: dtzar/helm-kubectl:2.13.1 + stage: deploy-fallback + script: + - echo "Deploy to Production fallback server" + - mkdir -p /root/.kube + - echo ${PFALLBACK_KUBECONFIG} | base64 -d > /root/.kube/config + - helm init + - helm delete --purge ontotools-curation-service || true + - helm install --name ontotools-curation-service --set k8Namespace=ontotools,replicaCount=1,image.env.envName=prod,image.repository=$REGISTRY_IMAGE,image.tag=$CI_COMMIT_SHA,image.env.dbUser=ontotoolscurator,image.env.secretsName=ontotools-secrets,image.env.secretsKey=db-pwd ./k8chart/ --wait + environment: + name: prod + when: manual + only: + - tags + +deploy-live: + image: dtzar/helm-kubectl:2.13.1 + stage: deploy-live + script: + - echo "Deploy to Production server" + - mkdir -p /root/.kube + - echo ${PLIVE_KUBECONFIG} | base64 -d > /root/.kube/config + - helm init + - helm delete --purge ontotools-curation-service || true + - helm install --name ontotools-curation-service --set k8Namespace=ontotools,replicaCount=1,image.env.envName=prod,image.repository=$REGISTRY_IMAGE,image.tag=$CI_COMMIT_SHA,image.env.dbUser=ontotoolscurator,image.env.secretsName=ontotools-secrets,image.env.secretsKey=db-pwd ./k8chart/ --wait + environment: + name: prod + when: manual + only: + - tags diff --git a/k8chart/values.yaml b/k8chart/values.yaml index 4802f1f..f754891 100644 --- a/k8chart/values.yaml +++ b/k8chart/values.yaml @@ -1,4 +1,4 @@ -# Default values for ontotools-backend-service. +# Default values for ontotools-curation-service. # This is a YAML-formatted file. # Declare variables to be passed into your templates. diff --git a/scripts/config/secret.yaml b/scripts/config/secret.yaml new file mode 100644 index 0000000..124ee87 --- /dev/null +++ b/scripts/config/secret.yaml @@ -0,0 +1,8 @@ +apiVersion: v1 +kind: Secret +metadata: + name: ontotools-secrets + namespace: ontotools +type: Opaque +data: + db-pwd: TlVMTA== From d8982c1680db7c3c59a70095f5897a7fffb8f73d Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Thu, 11 Mar 2021 21:31:43 +0800 Subject: [PATCH 42/72] Attempting to fix helm init issue. --- .gitlab-ci.yml | 6 +++--- 1 file changed, 3 insertions(+), 3 deletions(-) diff --git a/.gitlab-ci.yml b/.gitlab-ci.yml index f4bd06f..b96d186 100644 --- a/.gitlab-ci.yml +++ b/.gitlab-ci.yml @@ -55,7 +55,7 @@ deploy-sandbox: - echo "Deploy to sandbox server" - mkdir -p /root/.kube - echo ${SANBOX_KUBECONF} | base64 -d > /root/.kube/config - - helm init + - helm init --stable-repo-url https://charts.helm.sh/stable - helm delete --purge ontotools-curation-service || true - helm install --name ontotools-curation-service --set k8Namespace=ontotools,image.repository=$REGISTRY_IMAGE,image.tag=$CI_COMMIT_SHA,image.env.secretsName=ontotools-secrets,image.env.secretsKey=db-pwd ./k8chart/ --wait environment: @@ -72,7 +72,7 @@ deploy-fallback: - echo "Deploy to Production fallback server" - mkdir -p /root/.kube - echo ${PFALLBACK_KUBECONFIG} | base64 -d > /root/.kube/config - - helm init + - helm init --stable-repo-url https://charts.helm.sh/stable - helm delete --purge ontotools-curation-service || true - helm install --name ontotools-curation-service --set k8Namespace=ontotools,replicaCount=1,image.env.envName=prod,image.repository=$REGISTRY_IMAGE,image.tag=$CI_COMMIT_SHA,image.env.dbUser=ontotoolscurator,image.env.secretsName=ontotools-secrets,image.env.secretsKey=db-pwd ./k8chart/ --wait environment: @@ -88,7 +88,7 @@ deploy-live: - echo "Deploy to Production server" - mkdir -p /root/.kube - echo ${PLIVE_KUBECONFIG} | base64 -d > /root/.kube/config - - helm init + - helm init --stable-repo-url https://charts.helm.sh/stable - helm delete --purge ontotools-curation-service || true - helm install --name ontotools-curation-service --set k8Namespace=ontotools,replicaCount=1,image.env.envName=prod,image.repository=$REGISTRY_IMAGE,image.tag=$CI_COMMIT_SHA,image.env.dbUser=ontotoolscurator,image.env.secretsName=ontotools-secrets,image.env.secretsKey=db-pwd ./k8chart/ --wait environment: From 944591f5b4e692593ff9e2ca5896fc03a00ec715 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Thu, 11 Mar 2021 21:45:40 +0800 Subject: [PATCH 43/72] Removed ingress. --- k8chart/templates/curation-ingress.yaml | 17 ----------------- k8chart/values.yaml | 8 -------- 2 files changed, 25 deletions(-) delete mode 100644 k8chart/templates/curation-ingress.yaml diff --git a/k8chart/templates/curation-ingress.yaml b/k8chart/templates/curation-ingress.yaml deleted file mode 100644 index e6f95ca..0000000 --- a/k8chart/templates/curation-ingress.yaml +++ /dev/null @@ -1,17 +0,0 @@ -apiVersion: extensions/v1beta1 -kind: Ingress -metadata: - name: curation-ingress - annotations: - nginx.ingress.kubernetes.io/rewrite-target: /$2 - nginx.ingress.kubernetes.io/ssl-redirect: "false" - namespace: {{.Values.k8Namespace}} -spec: - rules: - - host: - http: - paths: - - path: {{.Values.ingress.path}} - curation: - serviceName: {{.Values.service.name}} - servicePort: {{.Values.service.port}} diff --git a/k8chart/values.yaml b/k8chart/values.yaml index f754891..1dd4e19 100644 --- a/k8chart/values.yaml +++ b/k8chart/values.yaml @@ -32,14 +32,6 @@ service: ingress: enabled: false - annotations: {} - # kubernetes.io/ingress.class: nginx - # kubernetes.io/tls-acme: "true" - - host: chart-example.local - path: "/curation(/|$)(.*)" - - tls: [] k8Namespace: ontotools From 4adedadd3071d189a90bb528496e23526ad02313 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Sat, 13 Mar 2021 12:22:52 +0800 Subject: [PATCH 44/72] WIP: Adding contexts. --- .../config/ExceptionHandlerAdvice.java | 12 ++- .../curation/constants/CurationConstants.java | 6 +- .../ontotools/curation/domain/Project.java | 32 ++----- .../curation/domain/ProjectContext.java | 53 +++++++++++ .../domain/config/ProjectMappingConfig.java | 18 ---- .../curation/domain/mapping/Entity.java | 5 +- .../exception/BadRequestException.java | 9 ++ .../curation/repository/EntityRepository.java | 2 + .../repository/ProjectContextRepository.java | 14 +++ .../rest/assembler/EntityDtoAssembler.java | 2 +- .../assembler/ProjectContextDtoAssembler.java | 25 ++++++ .../rest/assembler/ProjectDtoAssembler.java | 32 +++---- .../ProjectMappingConfigDtoAssembler.java | 15 ---- .../controller/ProjectContextsController.java | 87 +++++++++++++++++++ .../rest/controller/ProjectsController.java | 2 +- .../rest/controller/SourcesController.java | 5 +- .../curation/rest/dto/EntityDto.java | 12 +-- .../curation/rest/dto/ProjectContextDto.java | 68 +++++++++++++++ .../curation/rest/dto/ProjectCreationDto.java | 32 +++---- .../curation/rest/dto/ProjectDto.java | 30 ++----- .../rest/dto/ProjectMappingConfigDto.java | 40 --------- .../dto/dataimport/ImportDataElementDto.java | 12 +-- .../rest/dto/export/ExportEntityDto.java | 12 +-- .../curation/service/DataImportService.java | 3 +- .../curation/service/EntityService.java | 2 + .../curation/service/MatchmakerService.java | 3 +- .../curation/service/OntologyTermService.java | 4 +- .../curation/service/ProjectService.java | 10 ++- .../service/impl/DataImportServiceImpl.java | 15 ++-- .../service/impl/EntityDataCollector.java | 2 +- .../service/impl/EntityServiceImpl.java | 13 +++ .../service/impl/MatchmakerServiceImpl.java | 42 ++++++--- .../service/impl/OntologyTermServiceImpl.java | 8 +- .../service/impl/ProjectServiceImpl.java | 86 ++++++++++++++++-- .../ontotools/curation/util/CurationUtil.java | 36 -------- src/main/resources/application.yml | 2 +- .../ontotools/curation/IntegrationTest.java | 34 ++++---- .../curation/MatchMakingContolledTest.java | 1 - .../curation/ProjectsControllerTest.java | 21 ++--- 39 files changed, 518 insertions(+), 289 deletions(-) create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ProjectContext.java delete mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/config/ProjectMappingConfig.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/exception/BadRequestException.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ProjectContextRepository.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectContextDtoAssembler.java delete mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectMappingConfigDtoAssembler.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectContextsController.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectContextDto.java delete mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectMappingConfigDto.java diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/ExceptionHandlerAdvice.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/ExceptionHandlerAdvice.java index d1d41bc..8f1c942 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/ExceptionHandlerAdvice.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/ExceptionHandlerAdvice.java @@ -8,10 +8,7 @@ import org.springframework.web.bind.annotation.ExceptionHandler; import org.springframework.web.bind.annotation.ResponseStatus; import org.springframework.web.bind.annotation.RestController; -import uk.ac.ebi.spot.ontotools.curation.exception.AuthenticationException; -import uk.ac.ebi.spot.ontotools.curation.exception.AuthorizationException; -import uk.ac.ebi.spot.ontotools.curation.exception.EntityNotFoundException; -import uk.ac.ebi.spot.ontotools.curation.exception.FileProcessingException; +import uk.ac.ebi.spot.ontotools.curation.exception.*; @ControllerAdvice(annotations = RestController.class) public class ExceptionHandlerAdvice { @@ -37,6 +34,13 @@ public ResponseEntity handleAuthorizationException(EntityNotFoundExcepti return new ResponseEntity<>(e.getMessage(), headers, HttpStatus.NOT_FOUND); } + @ExceptionHandler(BadRequestException.class) + public ResponseEntity handleBadRequestException(BadRequestException e) { + HttpHeaders headers = new HttpHeaders(); + headers.setContentType(MediaType.TEXT_PLAIN); + return new ResponseEntity<>(e.getMessage(), headers, HttpStatus.BAD_REQUEST); + } + @ExceptionHandler(FileProcessingException.class) @ResponseStatus(HttpStatus.INTERNAL_SERVER_ERROR) public void handleFileProcessingException() { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java index cb134d5..bb31bcb 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java @@ -4,6 +4,8 @@ public class CurationConstants { public static final String API_PROJECTS = "/projects"; + public static final String API_CONTEXTS = "/contexts"; + public static final String API_SOURCES = "/sources"; public static final String API_UPLOAD = "/upload"; @@ -28,8 +30,8 @@ public class CurationConstants { public static final String PARAM_ENTITY_ID = "entityId"; - public static final String PARAM_CURIE = "curie"; - public static final String ZOOMA_CONFIDENCE_HIGH = "HIGH"; + public static final String CONTEXT_DEFAULT = "DEFAULT"; + } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Project.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Project.java index 01a8244..33dc81d 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Project.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/Project.java @@ -5,8 +5,8 @@ import lombok.NoArgsConstructor; import lombok.Setter; import org.springframework.data.annotation.Id; +import org.springframework.data.annotation.Transient; import org.springframework.data.mongodb.core.mapping.Document; -import uk.ac.ebi.spot.ontotools.curation.domain.config.ProjectMappingConfig; import java.util.List; @@ -24,32 +24,12 @@ public class Project { private String description; - /** - * List of datasources used to query Zooma to retrieve suggestions. - * Zooma service uses this list to filter results pertaining only to these datasources. - *

- * `ProjectMappingConfig` enables a field-based mapping preference setting. - * The default value for `field` when fields are not used is ALL. - */ - private List datasources; - - /** - * List of datasources used to query Zooma to retrieve suggestions. - * Zooma service uses this list to filter results pertaining only to these ontologies. - *

- * `ProjectMappingConfig` enables a field-based mapping preference setting. - * The default value for `field` when fields are not used is ALL. - *

- * NB: Orphanet prefix used by Zooma is `ordo` - */ - private List ontologies; - - /** - * Ontology ID used when creating ontology terms locally to query OLS for a mapping - */ - private List preferredMappingOntologies; - private Integer numberOfReviewsRequired; + private List contextIds; + private Provenance created; + + @Transient + private List contexts; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ProjectContext.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ProjectContext.java new file mode 100644 index 0000000..09f409c --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ProjectContext.java @@ -0,0 +1,53 @@ +package uk.ac.ebi.spot.ontotools.curation.domain; + +import lombok.AllArgsConstructor; +import lombok.Getter; +import lombok.NoArgsConstructor; +import lombok.Setter; +import org.springframework.data.annotation.Id; +import org.springframework.data.mongodb.core.index.CompoundIndex; +import org.springframework.data.mongodb.core.index.CompoundIndexes; +import org.springframework.data.mongodb.core.index.Indexed; +import org.springframework.data.mongodb.core.mapping.Document; + +import java.util.List; + +@Document(collection = "contexts") +@NoArgsConstructor +@AllArgsConstructor +@Getter +@Setter +@CompoundIndexes({@CompoundIndex(name = "pName", def = "{'projectId': 1, 'name': 1}")}) +public class ProjectContext { + + @Id + private String id; + + private String name; + + @Indexed + private String projectId; + + private String description; + + + /** + * List of datasources used to query Zooma to retrieve suggestions. + * Zooma service uses this list to filter results pertaining only to these datasources. + */ + private List datasources; + + /** + * List of ontologies used to query Zooma to retrieve suggestions. + * Zooma service uses this list to filter results pertaining only to these ontologies. + *

+ * NB: Orphanet prefix used by Zooma is `ordo` + */ + private List ontologies; + + /** + * Ontology IDs used when creating ontology terms locally to query OLS for a mapping + */ + private List preferredMappingOntologies; + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/config/ProjectMappingConfig.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/config/ProjectMappingConfig.java deleted file mode 100644 index 90a6481..0000000 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/config/ProjectMappingConfig.java +++ /dev/null @@ -1,18 +0,0 @@ -package uk.ac.ebi.spot.ontotools.curation.domain.config; - -import lombok.AllArgsConstructor; -import lombok.Getter; - -import java.util.List; - -@AllArgsConstructor -@Getter -public class ProjectMappingConfig { - - public static final String ALL = "ALL"; - - private String field; - - private List mappingList; - -} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Entity.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Entity.java index 308732d..f5ea5ed 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Entity.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Entity.java @@ -17,7 +17,8 @@ @Setter @NoArgsConstructor @AllArgsConstructor -@CompoundIndexes({@CompoundIndex(name = "ppIdx", def = "{'projectId': 1, 'priority': 1}")}) +@CompoundIndexes({@CompoundIndex(name = "ppIdx", def = "{'projectId': 1, 'priority': 1}"), + @CompoundIndex(name = "ppCon", def = "{'projectId': 1, 'context': 1}")}) public class Entity { @Id @@ -27,7 +28,7 @@ public class Entity { private String baseId; - private String baseField; + private String context; @Indexed private String sourceId; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/exception/BadRequestException.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/exception/BadRequestException.java new file mode 100644 index 0000000..d9d6137 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/exception/BadRequestException.java @@ -0,0 +1,9 @@ +package uk.ac.ebi.spot.ontotools.curation.exception; + +public class BadRequestException extends RuntimeException { + + public BadRequestException(String message) { + super(message); + } + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java index 66c0165..23f9938 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java @@ -14,4 +14,6 @@ public interface EntityRepository extends MongoRepository { Page findByProjectId(String projectId, Pageable page); Stream readByProjectId(String projectId); + + Stream readByProjectIdAndContext(String projectId, String context); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ProjectContextRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ProjectContextRepository.java new file mode 100644 index 0000000..8e527a9 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ProjectContextRepository.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.repository; + +import org.springframework.data.mongodb.repository.MongoRepository; +import uk.ac.ebi.spot.ontotools.curation.domain.ProjectContext; + +import java.util.List; +import java.util.Optional; + +public interface ProjectContextRepository extends MongoRepository { + + List findByProjectId(String projectId); + + Optional findByProjectIdAndNameIgnoreCase(String projectId, String name); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java index 73cec2a..a633ec3 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java @@ -25,7 +25,7 @@ public static EntityDto assemble(Entity entity, SourceDto source, Mapping mappin source, entity.getName(), entity.getBaseId(), - entity.getBaseField(), + entity.getContext(), entity.getMappingStatus().name(), mappingSuggestionDtos, mappingDto, diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectContextDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectContextDtoAssembler.java new file mode 100644 index 0000000..d283de4 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectContextDtoAssembler.java @@ -0,0 +1,25 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.assembler; + +import uk.ac.ebi.spot.ontotools.curation.domain.ProjectContext; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectContextDto; + +public class ProjectContextDtoAssembler { + + public static ProjectContextDto assemble(ProjectContext projectContext) { + return new ProjectContextDto(projectContext.getName(), + projectContext.getDescription(), + projectContext.getDatasources(), + projectContext.getOntologies(), + projectContext.getPreferredMappingOntologies()); + } + + public static ProjectContext disassemble(ProjectContextDto projectContext) { + return new ProjectContext(null, + projectContext.getName(), + null, + projectContext.getDescription(), + projectContext.getDatasources(), + projectContext.getOntologies(), + projectContext.getPreferredMappingOntologies()); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java index 1f039b6..5522329 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java @@ -1,6 +1,9 @@ package uk.ac.ebi.spot.ontotools.curation.rest.assembler; +import org.apache.commons.lang3.tuple.Pair; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.ProjectContext; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectCreationDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; @@ -14,9 +17,7 @@ public static ProjectDto assemble(Project project) { return new ProjectDto(project.getId(), project.getName(), project.getDescription(), - project.getDatasources() != null ? project.getDatasources().stream().map(ProjectMappingConfigDtoAssembler::assemble).collect(Collectors.toList()) : new ArrayList<>(), - project.getOntologies() != null ? project.getOntologies().stream().map(ProjectMappingConfigDtoAssembler::assemble).collect(Collectors.toList()) : new ArrayList<>(), - project.getPreferredMappingOntologies(), + project.getContexts().stream().map(ProjectContextDtoAssembler::assemble).collect(Collectors.toList()), project.getNumberOfReviewsRequired(), ProvenanceDtoAssembler.assemble(project.getCreated())); } @@ -25,21 +26,20 @@ public static Project disassemble(ProjectDto project) { return new Project(project.getId(), project.getName(), project.getDescription(), - project.getDatasources() != null ? project.getDatasources().stream().map(ProjectMappingConfigDtoAssembler::disassemble).collect(Collectors.toList()) : new ArrayList<>(), - project.getOntologies() != null ? project.getOntologies().stream().map(ProjectMappingConfigDtoAssembler::disassemble).collect(Collectors.toList()) : new ArrayList<>(), - project.getPreferredMappingOntologies(), project.getNumberOfReviewsRequired(), - ProvenanceDtoAssembler.disassemble(project.getCreated())); + null, + ProvenanceDtoAssembler.disassemble(project.getCreated()), + null); } - public static Project disassemble(ProjectCreationDto project, Provenance provenance) { - return new Project(null, - project.getName(), - project.getDescription(), - project.getDatasources() != null ? project.getDatasources().stream().map(ProjectMappingConfigDtoAssembler::disassemble).collect(Collectors.toList()) : new ArrayList<>(), - project.getOntologies() != null ? project.getOntologies().stream().map(ProjectMappingConfigDtoAssembler::disassemble).collect(Collectors.toList()) : new ArrayList<>(), - project.getPreferredMappingOntologies(), - project.getNumberOfReviewsRequired(), - provenance); + public static Pair disassemble(ProjectCreationDto project, Provenance provenance) { + return Pair.of(new Project(null, + project.getName(), + project.getDescription(), + project.getNumberOfReviewsRequired(), + new ArrayList<>(), + provenance, null), + new ProjectContext(null, CurationConstants.CONTEXT_DEFAULT, null, "Default context", + project.getDatasources(), project.getOntologies(), project.getPreferredMappingOntologies())); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectMappingConfigDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectMappingConfigDtoAssembler.java deleted file mode 100644 index bbcbce0..0000000 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectMappingConfigDtoAssembler.java +++ /dev/null @@ -1,15 +0,0 @@ -package uk.ac.ebi.spot.ontotools.curation.rest.assembler; - -import uk.ac.ebi.spot.ontotools.curation.domain.config.ProjectMappingConfig; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectMappingConfigDto; - -public class ProjectMappingConfigDtoAssembler { - - public static ProjectMappingConfigDto assemble(ProjectMappingConfig projectMappingConfig) { - return new ProjectMappingConfigDto(projectMappingConfig.getField(), projectMappingConfig.getMappingList()); - } - - public static ProjectMappingConfig disassemble(ProjectMappingConfigDto projectMappingConfig) { - return new ProjectMappingConfig(projectMappingConfig.getField(), projectMappingConfig.getMappingList()); - } -} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectContextsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectContextsController.java new file mode 100644 index 0000000..e8789b1 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectContextsController.java @@ -0,0 +1,87 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.controller; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.http.HttpStatus; +import org.springframework.http.MediaType; +import org.springframework.web.bind.annotation.*; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.exception.BadRequestException; +import uk.ac.ebi.spot.ontotools.curation.rest.assembler.ProjectContextDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.assembler.ProjectDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectContextDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.service.EntityService; +import uk.ac.ebi.spot.ontotools.curation.service.JWTService; +import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; +import uk.ac.ebi.spot.ontotools.curation.util.HeadersUtil; + +import javax.servlet.http.HttpServletRequest; +import javax.validation.Valid; + +@RestController +@RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) +public class ProjectContextsController { + + private static final Logger log = LoggerFactory.getLogger(ProjectContextsController.class); + + @Autowired + private JWTService jwtService; + + @Autowired + private ProjectService projectService; + + @Autowired + private EntityService entityService; + + /** + * POST /v1/projects/{projectId}/contexts + */ + @PostMapping(value = "/{projectId}" + CurationConstants.API_CONTEXTS, + consumes = MediaType.APPLICATION_JSON_VALUE, + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.CREATED) + public ProjectDto createProjectContext(@PathVariable String projectId, + @RequestBody @Valid ProjectContextDto projectContextDto, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to create project context [{}]: {}", user.getEmail(), projectId, projectContextDto.getName()); + Project project = projectService.createProjectContext(ProjectContextDtoAssembler.disassemble(projectContextDto), projectId, user); + return ProjectDtoAssembler.assemble(project); + } + + /** + * PUT /v1/projects/{projectId}/contexts + */ + @PutMapping(value = "/{projectId}" + CurationConstants.API_CONTEXTS, + consumes = MediaType.APPLICATION_JSON_VALUE, + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.OK) + public ProjectDto updateProjectContext(@RequestBody @Valid ProjectContextDto projectContextDto, @PathVariable String projectId, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to update project context [{}]: {}", user.getEmail(), projectId, projectContextDto.getName()); + Project updated = projectService.updateProjectContext(ProjectContextDtoAssembler.disassemble(projectContextDto), projectId, user); + return ProjectDtoAssembler.assemble(updated); + } + + /** + * DELETE /v1/projects/{projectId}/contexts/{contextName} + */ + @DeleteMapping(value = "/{projectId}" + CurationConstants.API_CONTEXTS + "/{contextName}", + produces = MediaType.TEXT_PLAIN_VALUE) + @ResponseStatus(HttpStatus.OK) + public void deleteProjectContext(@PathVariable String projectId, @PathVariable String contextName, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to delete project context [{}]: {}", user.getEmail(), projectId, contextName); + if (contextName.equalsIgnoreCase(CurationConstants.CONTEXT_DEFAULT)) { + log.error("Cannot delete DEFAULT context for any project."); + throw new BadRequestException("Cannot delete DEFAULT context for any project."); + } + projectService.deleteProjectContext(contextName, projectId, user); + entityService.moveEntities(projectId, contextName, CurationConstants.CONTEXT_DEFAULT); + } + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java index 254e59b..52e7fe6 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java @@ -9,8 +9,8 @@ import org.springframework.web.bind.annotation.*; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; -import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.rest.assembler.ProjectDtoAssembler; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectCreationDto; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java index 603d201..8867c7b 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java @@ -113,7 +113,7 @@ public void addDataToSource(@RequestBody List entities, @PathVariable St entityService.createEntity(new Entity(null, entity, null, null, source.getId(), projectId, null, new Provenance(user.getName(), user.getEmail(), DateTime.now()), EntityStatus.UNMAPPED)); } - matchmakerService.runMatchmaking(sourceId, projectService.retrieveProject(projectId, user)); + matchmakerService.runMatchmaking(source, projectService.retrieveProject(projectId, user)); } /** @@ -126,10 +126,11 @@ public void importDataFromFile(@RequestParam MultipartFile file, @PathVariable S User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to import data from file [{} - {}] to source: {} | {}", user.getEmail(), file.getOriginalFilename(), file.getSize(), projectId, sourceId); projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR})); + Source source = sourceService.getSource(sourceId, projectId); try { String fileData = IOUtils.toString(file.getInputStream(), "UTF-8"); - dataImportService.importData(fileData, projectId, sourceId, user); + dataImportService.importData(fileData, projectId, source, user); } catch (IOException e) { log.error("Unable to deserialize import data file: {}", e.getMessage(), e); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java index 9d28c0e..b12983f 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java @@ -31,8 +31,8 @@ public final class EntityDto implements Serializable { @JsonProperty("upstreamId") private final String upstreamId; - @JsonProperty("upstreamField") - private final String upstreamField; + @JsonProperty("context") + private final String context; @JsonProperty("mappingStatus") private final String mappingStatus; @@ -54,7 +54,7 @@ public EntityDto(@JsonProperty("id") String id, @JsonProperty("source") SourceDto source, @JsonProperty("name") String name, @JsonProperty("upstreamId") String upstreamId, - @JsonProperty("upstreamField") String upstreamField, + @JsonProperty("context") String context, @JsonProperty("mappingStatus") String mappingStatus, @JsonProperty("mappingSuggestions") List mappingSuggestions, @JsonProperty("mapping") MappingDto mapping, @@ -64,7 +64,7 @@ public EntityDto(@JsonProperty("id") String id, this.source = source; this.name = name; this.upstreamId = upstreamId; - this.upstreamField = upstreamField; + this.context = context; this.mappingStatus = mappingStatus; this.mappingSuggestions = mappingSuggestions; this.mapping = mapping; @@ -105,8 +105,8 @@ public String getUpstreamId() { return upstreamId; } - public String getUpstreamField() { - return upstreamField; + public String getContext() { + return context; } public List getAuditTrail() { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectContextDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectContextDto.java new file mode 100644 index 0000000..cfa4b0e --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectContextDto.java @@ -0,0 +1,68 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import javax.validation.constraints.NotNull; +import javax.validation.constraints.Pattern; +import java.io.Serializable; +import java.util.List; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class ProjectContextDto implements Serializable { + + private static final long serialVersionUID = -4397444940725422977L; + + @NotNull + @Pattern(regexp = "^[a-zA-Z0-9]+$", message = "Invalid context name.") + @JsonProperty("name") + private final String name; + + @JsonProperty("description") + private final String description; + + @JsonProperty("datasources") + private final List datasources; + + @JsonProperty("ontologies") + private final List ontologies; + + @JsonProperty("preferredMappingOntologies") + private final List preferredMappingOntologies; + + @JsonCreator + public ProjectContextDto(@JsonProperty("name") String name, + @JsonProperty("description") String description, + @JsonProperty("datasources") List datasources, + @JsonProperty("ontologies") List ontologies, + @JsonProperty("preferredMappingOntologies") List preferredMappingOntologies) { + this.name = name; + this.description = description; + this.datasources = datasources; + this.ontologies = ontologies; + this.preferredMappingOntologies = preferredMappingOntologies; + } + + public String getName() { + return name; + } + + public String getDescription() { + return description; + } + + public List getDatasources() { + return datasources; + } + + public List getOntologies() { + return ontologies; + } + + public List getPreferredMappingOntologies() { + return preferredMappingOntologies; + } +} \ No newline at end of file diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectCreationDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectCreationDto.java index 59a853c..f07f8fc 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectCreationDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectCreationDto.java @@ -22,31 +22,31 @@ public final class ProjectCreationDto implements Serializable { @JsonProperty("description") private final String description; + @JsonProperty("numberOfReviewsRequired") + private final Integer numberOfReviewsRequired; + @JsonProperty("datasources") - private final List datasources; + private final List datasources; @JsonProperty("ontologies") - private final List ontologies; + private final List ontologies; @JsonProperty("preferredMappingOntologies") private final List preferredMappingOntologies; - @JsonProperty("numberOfReviewsRequired") - private final Integer numberOfReviewsRequired; - @JsonCreator public ProjectCreationDto(@JsonProperty("name") String name, @JsonProperty("description") String description, - @JsonProperty("datasources") List datasources, - @JsonProperty("ontologies") List ontologies, - @JsonProperty("preferredMappingOntologies") List preferredMappingOntologies, - @JsonProperty("numberOfReviewsRequired") Integer numberOfReviewsRequired) { + @JsonProperty("numberOfReviewsRequired") Integer numberOfReviewsRequired, + @JsonProperty("datasources") List datasources, + @JsonProperty("ontologies") List ontologies, + @JsonProperty("preferredMappingOntologies") List preferredMappingOntologies) { this.name = name; this.description = description; + this.numberOfReviewsRequired = numberOfReviewsRequired; this.datasources = datasources; this.ontologies = ontologies; this.preferredMappingOntologies = preferredMappingOntologies; - this.numberOfReviewsRequired = numberOfReviewsRequired; } public String getName() { @@ -57,19 +57,19 @@ public String getDescription() { return description; } - public List getDatasources() { + public Integer getNumberOfReviewsRequired() { + return numberOfReviewsRequired; + } + + public List getDatasources() { return datasources; } - public List getOntologies() { + public List getOntologies() { return ontologies; } public List getPreferredMappingOntologies() { return preferredMappingOntologies; } - - public Integer getNumberOfReviewsRequired() { - return numberOfReviewsRequired; - } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDto.java index c438553..2e58fcb 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectDto.java @@ -26,14 +26,8 @@ public final class ProjectDto implements Serializable { @JsonProperty("description") private final String description; - @JsonProperty("datasources") - private final List datasources; - - @JsonProperty("ontologies") - private final List ontologies; - - @JsonProperty("preferredMappingOntologies") - private final List preferredMappingOntologies; + @JsonProperty("contexts") + private final List contexts; @JsonProperty("numberOfReviewsRequired") private final Integer numberOfReviewsRequired; @@ -45,17 +39,13 @@ public final class ProjectDto implements Serializable { public ProjectDto(@JsonProperty("id") String id, @JsonProperty("name") String name, @JsonProperty("description") String description, - @JsonProperty("datasources") List datasources, - @JsonProperty("ontologies") List ontologies, - @JsonProperty("preferredMappingOntologies") List preferredMappingOntologies, + @JsonProperty("contexts") List contexts, @JsonProperty("numberOfReviewsRequired") Integer numberOfReviewsRequired, @JsonProperty("created") ProvenanceDto created) { this.id = id; this.name = name; this.description = description; - this.datasources = datasources; - this.ontologies = ontologies; - this.preferredMappingOntologies = preferredMappingOntologies; + this.contexts = contexts; this.numberOfReviewsRequired = numberOfReviewsRequired; this.created = created; } @@ -72,16 +62,8 @@ public String getDescription() { return description; } - public List getDatasources() { - return datasources; - } - - public List getOntologies() { - return ontologies; - } - - public List getPreferredMappingOntologies() { - return preferredMappingOntologies; + public List getContexts() { + return contexts; } public Integer getNumberOfReviewsRequired() { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectMappingConfigDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectMappingConfigDto.java deleted file mode 100644 index 9d365ab..0000000 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectMappingConfigDto.java +++ /dev/null @@ -1,40 +0,0 @@ -package uk.ac.ebi.spot.ontotools.curation.rest.dto; - -import com.fasterxml.jackson.annotation.JsonCreator; -import com.fasterxml.jackson.annotation.JsonInclude; -import com.fasterxml.jackson.annotation.JsonProperty; -import lombok.EqualsAndHashCode; - -import javax.validation.constraints.NotEmpty; -import java.io.Serializable; -import java.util.List; - -@EqualsAndHashCode -@JsonInclude(JsonInclude.Include.NON_NULL) -public final class ProjectMappingConfigDto implements Serializable { - - private static final long serialVersionUID = 5092703110421044505L; - - @NotEmpty - @JsonProperty("field") - private final String field; - - @NotEmpty - @JsonProperty("mappingList") - private final List mappingList; - - @JsonCreator - public ProjectMappingConfigDto(@JsonProperty("field") String field, - @JsonProperty("mappingList") List mappingList) { - this.field = field; - this.mappingList = mappingList; - } - - public String getField() { - return field; - } - - public List getMappingList() { - return mappingList; - } -} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataElementDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataElementDto.java index b4777be..91f0e9a 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataElementDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/dataimport/ImportDataElementDto.java @@ -21,8 +21,8 @@ public final class ImportDataElementDto implements Serializable { @JsonProperty("text") private final String text; - @JsonProperty("upstreamField") - private final String upstreamField; + @JsonProperty("context") + private final String context; @JsonProperty("priority") private final Integer priority; @@ -30,11 +30,11 @@ public final class ImportDataElementDto implements Serializable { @JsonCreator public ImportDataElementDto(@JsonProperty("text") String text, @JsonProperty("upstreamId") String upstreamId, - @JsonProperty("upstreamField") String upstreamField, + @JsonProperty("context") String context, @JsonProperty("priority") Integer priority) { this.upstreamId = upstreamId; this.text = text; - this.upstreamField = upstreamField; + this.context = context; this.priority = priority; } @@ -46,8 +46,8 @@ public String getUpstreamId() { return upstreamId; } - public String getUpstreamField() { - return upstreamField; + public String getContext() { + return context; } public Integer getPriority() { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportEntityDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportEntityDto.java index ce01d73..6f1bc94 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportEntityDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/export/ExportEntityDto.java @@ -20,8 +20,8 @@ public final class ExportEntityDto implements Serializable { @JsonProperty("upstreamId") private final String upstreamId; - @JsonProperty("upstreamField") - private final String upstreamField; + @JsonProperty("context") + private final String context; @JsonProperty("priority") private final Integer priority; @@ -35,13 +35,13 @@ public final class ExportEntityDto implements Serializable { @JsonCreator public ExportEntityDto(@JsonProperty("name") String name, @JsonProperty("upstreamId") String upstreamId, - @JsonProperty("upstreamField") String upstreamField, + @JsonProperty("context") String context, @JsonProperty("priority") Integer priority, @JsonProperty("mappingSuggestions") List mappingSuggestions, @JsonProperty("mapping") ExportMappingDto mapping) { this.name = name; this.upstreamId = upstreamId; - this.upstreamField = upstreamField; + this.context = context; this.mappingSuggestions = mappingSuggestions; this.mapping = mapping; this.priority = priority; @@ -56,8 +56,8 @@ public String getUpstreamId() { return upstreamId; } - public String getUpstreamField() { - return upstreamField; + public String getContext() { + return context; } public List getMappingSuggestions() { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/DataImportService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/DataImportService.java index d4e52ee..85d298b 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/DataImportService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/DataImportService.java @@ -1,7 +1,8 @@ package uk.ac.ebi.spot.ontotools.curation.service; +import uk.ac.ebi.spot.ontotools.curation.domain.Source; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; public interface DataImportService { - void importData(String fileData, String projectId, String sourceId, User user); + void importData(String fileData, String projectId, Source source, User user); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java index 6c1f0ab..a7449d7 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java @@ -22,4 +22,6 @@ public interface EntityService { Page retrieveEntitiesForProject(String projectId, Pageable page); Entity retrieveEntity(String entityId); + + void moveEntities(String projectId, String fromContext, String toContext); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakerService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakerService.java index 58be5be..bb8ce83 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakerService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakerService.java @@ -1,8 +1,9 @@ package uk.ac.ebi.spot.ontotools.curation.service; import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.Source; public interface MatchmakerService { - void runMatchmaking(String sourceId, Project project); + void runMatchmaking(Source source, Project project); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java index e702648..e040acd 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java @@ -1,7 +1,7 @@ package uk.ac.ebi.spot.ontotools.curation.service; +import uk.ac.ebi.spot.ontotools.curation.domain.ProjectContext; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; -import uk.ac.ebi.spot.ontotools.curation.domain.Project; import java.util.List; import java.util.Map; @@ -9,7 +9,7 @@ public interface OntologyTermService { OntologyTerm createTerm(OntologyTerm term); - OntologyTerm createTerm(String iri, Project project); + OntologyTerm createTerm(String iri, ProjectContext projectContext); Map retrieveTerms(List ontologyTermIds); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectService.java index 23fa6b4..d23e87e 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ProjectService.java @@ -1,7 +1,9 @@ package uk.ac.ebi.spot.ontotools.curation.service; +import org.apache.commons.lang3.tuple.Pair; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.ProjectContext; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import java.util.List; @@ -9,7 +11,7 @@ public interface ProjectService { List retrieveProjects(User user); - Project createProject(Project project, User user); + Project createProject(Pair projectCreationPair, User user); Project updateProject(Project project, String projectId, User user); @@ -18,4 +20,10 @@ public interface ProjectService { Project retrieveProject(String projectId, User user); void verifyAccess(String projectId, User user, List roles); + + Project createProjectContext(ProjectContext projectContext, String projectId, User user); + + Project updateProjectContext(ProjectContext projectContext, String projectId, User user); + + void deleteProjectContext(String contextName, String projectId, User user); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java index 43ae173..2bd9c0b 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java @@ -11,6 +11,7 @@ import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; +import uk.ac.ebi.spot.ontotools.curation.domain.Source; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.rest.dto.dataimport.ImportDataElementDto; @@ -46,12 +47,12 @@ public void initialize() { @Async(value = "applicationTaskExecutor") @Override - public void importData(String fileData, String projectId, String sourceId, User user) { - log.info("[{} | {}] Importing data from file.", projectId, sourceId); + public void importData(String fileData, String projectId, Source source, User user) { + log.info("[{} | {}] Importing data from file.", projectId, source.getId()); Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); Project project = projectService.retrieveProject(projectId, user); try { - ImportDataPackageDto importDataPackageDto = this.objectMapper.readValue(fileData, new TypeReference() { + ImportDataPackageDto importDataPackageDto = this.objectMapper.readValue(fileData, new TypeReference<>() { }); log.info("Received {} entries to import.", importDataPackageDto.getData().size()); @@ -60,16 +61,16 @@ public void importData(String fileData, String projectId, String sourceId, User int count = 0; for (ImportDataElementDto importDataElementDto : importDataPackageDto.getData()) { entityService.createEntity(new Entity(null, importDataElementDto.getText(), - importDataElementDto.getUpstreamId(), importDataElementDto.getUpstreamField(), - sourceId, projectId, importDataElementDto.getPriority(), provenance, EntityStatus.UNMAPPED)); + importDataElementDto.getUpstreamId(), importDataElementDto.getContext(), + source.getId(), projectId, importDataElementDto.getPriority(), provenance, EntityStatus.UNMAPPED)); count++; if (count % 100 == 0) { - log.info(" -- [{} | {}] Progress: {} of {}", projectId, sourceId, count, importDataPackageDto.getData().size()); + log.info(" -- [{} | {}] Progress: {} of {}", projectId, source.getId(), count, importDataPackageDto.getData().size()); } } long eTime = System.currentTimeMillis(); log.info("{} entities created [{}s]", count, (eTime - sTime) / 1000); - matchmakerService.runMatchmaking(sourceId, project); + matchmakerService.runMatchmaking(source, project); } catch (IOException e) { log.error("Unable to deserialize import data file: {}", e.getMessage(), e); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityDataCollector.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityDataCollector.java index 634f734..0f823bd 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityDataCollector.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityDataCollector.java @@ -52,7 +52,7 @@ public void add(Entity entity, Mapping mapping, List mappingS exportEntityDtos.add(new ExportEntityDto(entity.getName(), entity.getBaseId(), - entity.getBaseField(), + entity.getContext(), entity.getPriority(), mappingSuggestions, exportMappingDto diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java index 66a07cb..d074846 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java @@ -75,4 +75,17 @@ public Entity retrieveEntity(String entityId) { return entityOptional.get(); } + @Override + public void moveEntities(String projectId, String fromContext, String toContext) { + log.info("Moving entities in project [{}] from context [{}] to context: {}", projectId, fromContext, toContext); + Stream entityStream = entityRepository.readByProjectIdAndContext(projectId, fromContext); + entityStream.forEach(entity -> updateContext(entity, toContext)); + entityStream.close(); + } + + private void updateContext(Entity entity, String toContext) { + entity.setContext(toContext); + entityRepository.save(entity); + } + } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java index 984ff6e..b5510e0 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java @@ -6,9 +6,12 @@ import org.springframework.beans.factory.annotation.Autowired; import org.springframework.scheduling.annotation.Async; import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.ProjectContext; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; +import uk.ac.ebi.spot.ontotools.curation.domain.Source; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; @@ -49,24 +52,43 @@ public class MatchmakerServiceImpl implements MatchmakerService { @Override @Async(value = "applicationTaskExecutor") - public void runMatchmaking(String sourceId, Project project) { - log.info("Running auto-mapping for source: {}", sourceId); + public void runMatchmaking(Source source, Project project) { + log.info("Running auto-mapping for source: {}", source.getId()); User robotUser = userService.retrieveRobotUser(); - project.setOntologies(CurationUtil.configListtoLowerCase(project.getOntologies())); - project.setDatasources(CurationUtil.configListtoLowerCase(project.getDatasources())); - project.setPreferredMappingOntologies(CurationUtil.listToLowerCase(project.getPreferredMappingOntologies())); long sTime = System.currentTimeMillis(); - Stream entityStream = entityService.retrieveEntitiesForSource(sourceId); + Stream entityStream = entityService.retrieveEntitiesForSource(source.getId()); entityStream.forEach(entity -> this.autoMap(entity, project, robotUser)); entityStream.close(); long eTime = System.currentTimeMillis(); - log.info("[{}] Auto-mapping done in {}s", sourceId, (eTime - sTime) / 1000); + log.info("[{}] Auto-mapping done in {}s", source.getId(), (eTime - sTime) / 1000); + } + + private ProjectContext findContext(String contextName, String entityName, Project project) { + ProjectContext projectContext = null; + ProjectContext defaultContext = null; + for (ProjectContext pc : project.getContexts()) { + if (pc.getName().equalsIgnoreCase(contextName)) { + projectContext = pc; + break; + } + if (pc.getName().equalsIgnoreCase(CurationConstants.CONTEXT_DEFAULT)) { + defaultContext = pc; + } + } + + if (projectContext == null) { + log.error("Cannot find context [{}] for entity [{}] in project: {}", contextName, entityName, project.getId()); + return defaultContext; + } + + return projectContext; } private void autoMap(Entity entity, Project project, User user) { - List projectDatasources = CurationUtil.configForField(entity, project.getDatasources()); - List projectOntologies = CurationUtil.configForField(entity, project.getOntologies()); + ProjectContext projectContext = this.findContext(entity.getContext(), entity.getName(), project); + List projectDatasources = projectContext.getDatasources(); + List projectOntologies = projectContext.getOntologies(); /** * Retrieve annotations from Zooma from datasources stored in the project @@ -109,7 +131,7 @@ private void autoMap(Entity entity, Project project, User user) { Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); List termsCreated = new ArrayList<>(); for (String iri : finalIRIs) { - OntologyTerm ontologyTerm = ontologyTermService.createTerm(iri, project); + OntologyTerm ontologyTerm = ontologyTermService.createTerm(iri, projectContext); if (ontologyTerm != null) { termsCreated.add(ontologyTerm); mappingSuggestionsService.createMappingSuggestion(entity, ontologyTerm, provenance); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java index 06f5f29..98ceb22 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java @@ -7,7 +7,7 @@ import org.springframework.beans.factory.annotation.Autowired; import org.springframework.stereotype.Service; import uk.ac.ebi.spot.ontotools.curation.constants.TermStatus; -import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.ProjectContext; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.exception.EntityNotFoundException; import uk.ac.ebi.spot.ontotools.curation.repository.OntologyTermRepository; @@ -44,7 +44,7 @@ public OntologyTerm createTerm(OntologyTerm term) { } @Override - public OntologyTerm createTerm(String iri, Project project) { + public OntologyTerm createTerm(String iri, ProjectContext projectContext) { log.info("Creating term: {}", iri); Optional ontologyTermOp = ontologyTermRepository.findByIriHash(DigestUtils.sha256Hex(iri)); if (ontologyTermOp.isPresent()) { @@ -53,13 +53,13 @@ public OntologyTerm createTerm(String iri, Project project) { } List preferredOntoResponse = new ArrayList<>(); - for (String preferredOntology : project.getPreferredMappingOntologies()) { + for (String preferredOntology : projectContext.getPreferredMappingOntologies()) { preferredOntoResponse.addAll(olsService.retrieveTerms(preferredOntology, iri)); } List parentOntoResponse = new ArrayList<>(); String ontoId = CurationUtil.ontoFromIRI(iri); String termStatus; - if (!project.getPreferredMappingOntologies().contains(ontoId.toLowerCase())) { + if (!projectContext.getPreferredMappingOntologies().contains(ontoId.toLowerCase())) { parentOntoResponse = olsService.retrieveTerms(ontoId, iri); termStatus = parseStatus(preferredOntoResponse, parentOntoResponse, null); } else { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java index c12cd13..1038084 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java @@ -1,14 +1,17 @@ package uk.ac.ebi.spot.ontotools.curation.service.impl; +import org.apache.commons.lang3.tuple.Pair; import org.slf4j.Logger; import org.slf4j.LoggerFactory; import org.springframework.beans.factory.annotation.Autowired; import org.springframework.stereotype.Service; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.ProjectContext; import uk.ac.ebi.spot.ontotools.curation.domain.auth.Role; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.exception.EntityNotFoundException; +import uk.ac.ebi.spot.ontotools.curation.repository.ProjectContextRepository; import uk.ac.ebi.spot.ontotools.curation.repository.ProjectRepository; import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; @@ -26,19 +29,33 @@ public class ProjectServiceImpl implements ProjectService { @Autowired private ProjectRepository projectRepository; + @Autowired + private ProjectContextRepository projectContextRepository; + @Override public List retrieveProjects(User user) { log.info("Retrieving projects for user: {}", user.getEmail()); List projectIds = user.getRoles().stream().map(Role::getProjectId).collect(Collectors.toList()); List projects = user.isSuperUser() ? projectRepository.findAll() : projectRepository.findByIdIn(projectIds); + List result = new ArrayList<>(); + for (Project project : projects) { + List projectContexts = projectContextRepository.findByProjectId(project.getId()); + project.setContexts(projectContexts); + result.add(project); + } log.info("Found {} projects: ", projects.size()); - return projects; + return result; } @Override - public Project createProject(Project toCreate, User user) { - log.info("[{}] Creating project: {}", user.getEmail(), toCreate.getName()); - Project created = projectRepository.insert(toCreate); + public Project createProject(Pair projectCreationPair, User user) { + log.info("[{}] Creating project: {}", user.getEmail(), projectCreationPair.getLeft().getName()); + Project created = projectRepository.insert(projectCreationPair.getLeft()); + ProjectContext projectContext = projectCreationPair.getRight(); + projectContext.setProjectId(created.getId()); + projectContext = projectContextRepository.insert(projectContext); + created.setContextIds(Arrays.asList(new String[]{projectContext.getId()})); + created = projectRepository.save(created); log.info("[{}] Project created: {}", created.getName(), created.getId()); return created; } @@ -53,12 +70,14 @@ public Project updateProject(Project project, String projectId, User user) { } if (hasAccess(user, projectId, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN}))) { Project existing = exitingOp.get(); - existing.setDatasources(project.getDatasources() != null ? project.getDatasources() : new ArrayList<>()); - existing.setOntologies(project.getOntologies() != null ? project.getOntologies() : new ArrayList<>()); existing.setName(project.getName()); existing.setDescription(project.getDescription()); existing.setNumberOfReviewsRequired(project.getNumberOfReviewsRequired()); - return projectRepository.save(existing); + existing = projectRepository.save(existing); + + List projectContexts = projectContextRepository.findByProjectId(existing.getId()); + existing.setContexts(projectContexts); + return existing; } else { log.error("User [{}] cannot change project [{}]. Required access is missing.", user.getEmail(), projectId); throw new EntityNotFoundException("No project [" + projectId + "] found for user [" + user.getEmail() + "]"); @@ -99,8 +118,59 @@ public Project retrieveProject(String projectId, User user) { log.error("[{}] Unable to find project: {}", user.getEmail(), projectId); throw new EntityNotFoundException("[" + user.getEmail() + "] Unable to find project: " + projectId); } + Project project = exitingOp.get(); + List projectContexts = projectContextRepository.findByProjectId(project.getId()); + project.setContexts(projectContexts); + return project; + } + + @Override + public Project createProjectContext(ProjectContext projectContext, String projectId, User user) { + log.info("[{}] Creating project context [{}]: {}", user.getEmail(), projectId, projectContext.getName()); + Project project = this.retrieveProject(projectId, user); + projectContext.setProjectId(project.getId()); + projectContext = projectContextRepository.insert(projectContext); + project.getContextIds().add(projectContext.getId()); + project = projectRepository.save(project); + List projectContexts = projectContextRepository.findByProjectId(project.getId()); + project.setContexts(projectContexts); + return project; + } + + @Override + public Project updateProjectContext(ProjectContext projectContext, String projectId, User user) { + log.info("[{}] Updating project context [{}]: {}", user.getEmail(), projectId, projectContext.getName()); + Project project = this.retrieveProject(projectId, user); + Optional projectContextOptional = projectContextRepository.findByProjectIdAndNameIgnoreCase(projectId, projectContext.getName()); + if (!projectContextOptional.isPresent()) { + log.error("Project context [{}] not found for project {}.", projectContext.getName(), project.getName()); + throw new EntityNotFoundException("Project context [" + projectContext.getName() + "] not found for project " + project.getName() + "."); + } + ProjectContext existing = projectContextOptional.get(); + existing.setDescription(projectContext.getDescription()); + existing.setDatasources(projectContext.getDatasources()); + existing.setOntologies(projectContext.getOntologies()); + existing.setPreferredMappingOntologies(projectContext.getPreferredMappingOntologies()); + projectContextRepository.save(existing); + List projectContexts = projectContextRepository.findByProjectId(project.getId()); + project.setContexts(projectContexts); + return project; + } + + @Override + public void deleteProjectContext(String contextName, String projectId, User user) { + log.info("[{}] Deleting project context [{}]: {}", user.getEmail(), projectId, contextName); + Project project = this.retrieveProject(projectId, user); + Optional projectContextOptional = projectContextRepository.findByProjectIdAndNameIgnoreCase(projectId, contextName); + if (!projectContextOptional.isPresent()) { + log.error("Project context [{}] not found for project {}.", contextName, project.getName()); + throw new EntityNotFoundException("Project context [" + contextName + "] not found for project " + project.getName() + "."); + } - return exitingOp.get(); + ProjectContext existing = projectContextOptional.get(); + project.getContextIds().remove(existing.getId()); + projectRepository.save(project); + projectContextRepository.delete(existing); } @Override diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java index 66ccb0f..dbd0a05 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java @@ -1,8 +1,6 @@ package uk.ac.ebi.spot.ontotools.curation.util; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; -import uk.ac.ebi.spot.ontotools.curation.domain.config.ProjectMappingConfig; -import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import java.util.ArrayList; import java.util.HashMap; @@ -70,38 +68,4 @@ public static Map parseAliases(List aliasList) { return map; } - public static List configListtoLowerCase(List projectMappingConfigs) { - List result = new ArrayList<>(); - for (ProjectMappingConfig projectMappingConfig : projectMappingConfigs) { - result.add(new ProjectMappingConfig(projectMappingConfig.getField().toLowerCase(), listToLowerCase(projectMappingConfig.getMappingList()))); - } - return result; - } - - public static List configForField(Entity entity, List projectMappingConfigs) { - if (entity.getBaseField() == null) { - for (ProjectMappingConfig projectMappingConfig : projectMappingConfigs) { - if (projectMappingConfig.getField().equalsIgnoreCase(ProjectMappingConfig.ALL)) { - return projectMappingConfig.getMappingList(); - } - } - - if (!projectMappingConfigs.isEmpty()) { - return projectMappingConfigs.get(0).getMappingList(); - } - } else { - for (ProjectMappingConfig projectMappingConfig : projectMappingConfigs) { - if (projectMappingConfig.getField().equalsIgnoreCase(entity.getBaseField())) { - return projectMappingConfig.getMappingList(); - } - } - for (ProjectMappingConfig projectMappingConfig : projectMappingConfigs) { - if (projectMappingConfig.getField().equalsIgnoreCase(ProjectMappingConfig.ALL)) { - return projectMappingConfig.getMappingList(); - } - } - } - - return new ArrayList<>(); - } } diff --git a/src/main/resources/application.yml b/src/main/resources/application.yml index a02772b..73fa737 100644 --- a/src/main/resources/application.yml +++ b/src/main/resources/application.yml @@ -75,7 +75,7 @@ spring: on-profile: "prod" data: mongodb: - uri: mongos-hx-ontotoolscuratorprors-001.ebi.ac.uk:27017,mongos-hl-ontotoolscuratorprors-002.ebi.ac.uk:27017/admin?replicaSet=ontotoolscuratorprors071 + uri: mongos-hx-ontotoolscuratorprors071-01.ebi.ac.uk:27017,mongos-hl-ontotoolscuratorprors071-02.ebi.ac.uk:27017/admin?replicaSet=ontotoolscuratorprors071 ontotools-curation: db: ontotoolscurator diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index 4e5f42c..8e75478 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -29,7 +29,10 @@ import uk.ac.ebi.spot.ontotools.curation.domain.mapping.MappingSuggestion; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.repository.*; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.*; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectCreationDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceCreationDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingDto; import uk.ac.ebi.spot.ontotools.curation.service.MatchmakerService; import uk.ac.ebi.spot.ontotools.curation.service.OLSService; @@ -157,10 +160,10 @@ protected ProjectDto createProject(String name, String token, String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS; - ProjectCreationDto projectCreationDto = new ProjectCreationDto(name, "Description", - datasources != null ? Arrays.asList(new ProjectMappingConfigDto[]{new ProjectMappingConfigDto("ALL", datasources)}) : new ArrayList<>(), - ontologies != null ? Arrays.asList(new ProjectMappingConfigDto[]{new ProjectMappingConfigDto("ALL", ontologies)}) : new ArrayList<>(), - preferredMappingOntology != null ? Arrays.asList(new String[]{preferredMappingOntology}) : new ArrayList<>(), noReviewsRequired); + ProjectCreationDto projectCreationDto = new ProjectCreationDto(name, "Description", noReviewsRequired, + datasources != null ? datasources : new ArrayList<>(), + ontologies != null ? ontologies : new ArrayList<>(), + preferredMappingOntology != null ? Arrays.asList(new String[]{preferredMappingOntology}) : new ArrayList<>()); String response = mockMvc.perform(post(endpoint) .contentType(MediaType.APPLICATION_JSON) @@ -175,24 +178,23 @@ protected ProjectDto createProject(String name, String token, }); assertEquals(projectCreationDto.getName(), actual.getName()); assertEquals(projectCreationDto.getDescription(), actual.getDescription()); - assertNotNull(actual.getDatasources()); - assertNotNull(actual.getOntologies()); + assertEquals(1, actual.getContexts().size()); + assertEquals(CurationConstants.CONTEXT_DEFAULT, actual.getContexts().get(0).getName()); + assertNotNull(actual.getContexts().get(0).getDatasources()); + assertNotNull(actual.getContexts().get(0).getOntologies()); + if (datasources == null) { - assertTrue(actual.getDatasources().isEmpty()); + assertTrue(actual.getContexts().get(0).getDatasources().isEmpty()); } else { - assertEquals(1, actual.getDatasources().size()); - assertEquals("ALL", actual.getDatasources().get(0).getField()); - assertEquals(datasources.size(), actual.getDatasources().get(0).getMappingList().size()); + assertEquals(datasources.size(), actual.getContexts().get(0).getDatasources().size()); } if (ontologies == null) { - assertTrue(actual.getOntologies().isEmpty()); + assertTrue(actual.getContexts().get(0).getOntologies().isEmpty()); } else { - assertEquals(1, actual.getOntologies().size()); - assertEquals("ALL", actual.getOntologies().get(0).getField()); - assertEquals(ontologies.size(), actual.getOntologies().get(0).getMappingList().size()); + assertEquals(ontologies.size(), actual.getContexts().get(0).getOntologies().size()); } if (preferredMappingOntology != null) { - assertEquals(preferredMappingOntology, actual.getPreferredMappingOntologies().get(0)); + assertEquals(preferredMappingOntology, actual.getContexts().get(0).getPreferredMappingOntologies().get(0)); } return actual; } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java index ce9b77c..7b4ac2e 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java @@ -9,7 +9,6 @@ import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.config.ExternalServiceConfig; -import uk.ac.ebi.spot.ontotools.curation.domain.config.ProjectMappingConfig; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.MappingSuggestion; diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java index 5c3b705..11fac3b 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java @@ -7,7 +7,6 @@ import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectMappingConfigDto; import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; import java.util.Arrays; @@ -44,7 +43,7 @@ public void shouldGetProjects() throws Exception { .getResponse() .getContentAsString(); - List projectList = mapper.readValue(response, new TypeReference>() { + List projectList = mapper.readValue(response, new TypeReference<>() { }); assertEquals(1, projectList.size()); @@ -69,7 +68,7 @@ public void shouldNotGetProjects() throws Exception { .getResponse() .getContentAsString(); - List projectList = mapper.readValue(response, new TypeReference>() { + List projectList = mapper.readValue(response, new TypeReference<>() { }); assertEquals(0, projectList.size()); } @@ -117,9 +116,7 @@ public void shouldUpdateProject() throws Exception { ProjectDto updatedProject = new ProjectDto(projectDto.getId(), "New Name", projectDto.getDescription(), - Arrays.asList(new ProjectMappingConfigDto[]{new ProjectMappingConfigDto("ALL", Arrays.asList(new String[]{"gwas"}))}), - Arrays.asList(new ProjectMappingConfigDto[]{new ProjectMappingConfigDto("ALL", Arrays.asList(new String[]{"ordo"}))}), - projectDto.getPreferredMappingOntologies(), + null, 0, projectDto.getCreated()); @@ -133,12 +130,10 @@ public void shouldUpdateProject() throws Exception { .getResponse() .getContentAsString(); - ProjectDto actual = mapper.readValue(response, new TypeReference() { + ProjectDto actual = mapper.readValue(response, new TypeReference<>() { }); assertEquals(updatedProject.getName(), actual.getName()); assertEquals(updatedProject.getDescription(), actual.getDescription()); - assertEquals(updatedProject.getDatasources(), actual.getDatasources()); - assertEquals(updatedProject.getOntologies(), actual.getOntologies()); } /** @@ -150,9 +145,7 @@ public void shouldNotUpdateProject() throws Exception { ProjectDto updatedProject = new ProjectDto(projectDto.getId(), "New Name", projectDto.getDescription(), - Arrays.asList(new ProjectMappingConfigDto[]{new ProjectMappingConfigDto("ALL", Arrays.asList(new String[]{"gwas"}))}), - Arrays.asList(new ProjectMappingConfigDto[]{new ProjectMappingConfigDto("ALL", Arrays.asList(new String[]{"ordo"}))}), - projectDto.getPreferredMappingOntologies(), + null, 0, projectDto.getCreated()); @@ -173,9 +166,7 @@ public void shouldNotUpdateProjectAsConsumer() throws Exception { ProjectDto updatedProject = new ProjectDto(projectDto.getId(), "New Name", projectDto.getDescription(), - Arrays.asList(new ProjectMappingConfigDto[]{new ProjectMappingConfigDto("ALL", Arrays.asList(new String[]{"gwas"}))}), - Arrays.asList(new ProjectMappingConfigDto[]{new ProjectMappingConfigDto("ALL", Arrays.asList(new String[]{"ordo"}))}), - projectDto.getPreferredMappingOntologies(), + null, 0, projectDto.getCreated()); From e4f3496227fce17444451cdf40aef81e5f8d9b0c Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Mon, 15 Mar 2021 22:01:44 +0800 Subject: [PATCH 45/72] WIP #43 - Fixed bugs. Added tests. --- .../controller/ProjectContextsController.java | 5 + .../rest/controller/SourcesController.java | 2 +- .../curation/service/MatchmakerService.java | 3 +- .../service/impl/DataImportServiceImpl.java | 6 +- .../service/impl/MatchmakerServiceImpl.java | 9 +- .../service/impl/ProjectServiceImpl.java | 1 + .../ontotools/curation/DataImportTest.java | 4 + .../curation/EntityControllerTest.java | 6 +- .../ontotools/curation/IntegrationTest.java | 2 +- .../curation/MatchMakingContolledTest.java | 10 +- .../ontotools/curation/MatchMakingTest.java | 3 +- .../ProjectContextsControllerTest.java | 232 ++++++++++++++++++ .../curation/ProjectsControllerTest.java | 11 + .../curation/PublicDataControllerTest.java | 2 +- .../curation/UsersControllerTest.java | 16 +- ...toTest.java => ProjectContextDtoTest.java} | 4 +- 16 files changed, 288 insertions(+), 28 deletions(-) create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectContextsControllerTest.java rename src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/{ProjectMappingConfigDtoTest.java => ProjectContextDtoTest.java} (65%) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectContextsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectContextsController.java index e8789b1..36c31f9 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectContextsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectContextsController.java @@ -7,6 +7,7 @@ import org.springframework.http.MediaType; import org.springframework.web.bind.annotation.*; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.exception.BadRequestException; @@ -22,6 +23,7 @@ import javax.servlet.http.HttpServletRequest; import javax.validation.Valid; +import java.util.Arrays; @RestController @RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) @@ -49,6 +51,7 @@ public ProjectDto createProjectContext(@PathVariable String projectId, @RequestBody @Valid ProjectContextDto projectContextDto, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to create project context [{}]: {}", user.getEmail(), projectId, projectContextDto.getName()); + projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN})); Project project = projectService.createProjectContext(ProjectContextDtoAssembler.disassemble(projectContextDto), projectId, user); return ProjectDtoAssembler.assemble(project); } @@ -63,6 +66,7 @@ public ProjectDto createProjectContext(@PathVariable String projectId, public ProjectDto updateProjectContext(@RequestBody @Valid ProjectContextDto projectContextDto, @PathVariable String projectId, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to update project context [{}]: {}", user.getEmail(), projectId, projectContextDto.getName()); + projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN})); Project updated = projectService.updateProjectContext(ProjectContextDtoAssembler.disassemble(projectContextDto), projectId, user); return ProjectDtoAssembler.assemble(updated); } @@ -76,6 +80,7 @@ public ProjectDto updateProjectContext(@RequestBody @Valid ProjectContextDto pro public void deleteProjectContext(@PathVariable String projectId, @PathVariable String contextName, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to delete project context [{}]: {}", user.getEmail(), projectId, contextName); + projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN})); if (contextName.equalsIgnoreCase(CurationConstants.CONTEXT_DEFAULT)) { log.error("Cannot delete DEFAULT context for any project."); throw new BadRequestException("Cannot delete DEFAULT context for any project."); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java index 8867c7b..bd8e123 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/SourcesController.java @@ -113,7 +113,7 @@ public void addDataToSource(@RequestBody List entities, @PathVariable St entityService.createEntity(new Entity(null, entity, null, null, source.getId(), projectId, null, new Provenance(user.getName(), user.getEmail(), DateTime.now()), EntityStatus.UNMAPPED)); } - matchmakerService.runMatchmaking(source, projectService.retrieveProject(projectId, user)); + matchmakerService.runMatchmaking(source.getId(), projectService.retrieveProject(projectId, user)); } /** diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakerService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakerService.java index bb8ce83..58be5be 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakerService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakerService.java @@ -1,9 +1,8 @@ package uk.ac.ebi.spot.ontotools.curation.service; import uk.ac.ebi.spot.ontotools.curation.domain.Project; -import uk.ac.ebi.spot.ontotools.curation.domain.Source; public interface MatchmakerService { - void runMatchmaking(Source source, Project project); + void runMatchmaking(String sourceId, Project project); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java index 2bd9c0b..5d03469 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java @@ -8,6 +8,7 @@ import org.springframework.beans.factory.annotation.Autowired; import org.springframework.scheduling.annotation.Async; import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; @@ -61,7 +62,8 @@ public void importData(String fileData, String projectId, Source source, User us int count = 0; for (ImportDataElementDto importDataElementDto : importDataPackageDto.getData()) { entityService.createEntity(new Entity(null, importDataElementDto.getText(), - importDataElementDto.getUpstreamId(), importDataElementDto.getContext(), + importDataElementDto.getUpstreamId(), + importDataElementDto.getContext() == null ? CurationConstants.CONTEXT_DEFAULT : importDataElementDto.getContext(), source.getId(), projectId, importDataElementDto.getPriority(), provenance, EntityStatus.UNMAPPED)); count++; if (count % 100 == 0) { @@ -70,7 +72,7 @@ public void importData(String fileData, String projectId, Source source, User us } long eTime = System.currentTimeMillis(); log.info("{} entities created [{}s]", count, (eTime - sTime) / 1000); - matchmakerService.runMatchmaking(source, project); + matchmakerService.runMatchmaking(source.getId(), project); } catch (IOException e) { log.error("Unable to deserialize import data file: {}", e.getMessage(), e); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java index b5510e0..01c7612 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java @@ -11,7 +11,6 @@ import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.domain.ProjectContext; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; -import uk.ac.ebi.spot.ontotools.curation.domain.Source; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; @@ -52,16 +51,16 @@ public class MatchmakerServiceImpl implements MatchmakerService { @Override @Async(value = "applicationTaskExecutor") - public void runMatchmaking(Source source, Project project) { - log.info("Running auto-mapping for source: {}", source.getId()); + public void runMatchmaking(String sourceId, Project project) { + log.info("Running auto-mapping for source: {}", sourceId); User robotUser = userService.retrieveRobotUser(); long sTime = System.currentTimeMillis(); - Stream entityStream = entityService.retrieveEntitiesForSource(source.getId()); + Stream entityStream = entityService.retrieveEntitiesForSource(sourceId); entityStream.forEach(entity -> this.autoMap(entity, project, robotUser)); entityStream.close(); long eTime = System.currentTimeMillis(); - log.info("[{}] Auto-mapping done in {}s", source.getId(), (eTime - sTime) / 1000); + log.info("[{}] Auto-mapping done in {}s", sourceId, (eTime - sTime) / 1000); } private ProjectContext findContext(String contextName, String entityName, Project project) { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java index 1038084..12ff90a 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java @@ -57,6 +57,7 @@ public Project createProject(Pair projectCreationPair, created.setContextIds(Arrays.asList(new String[]{projectContext.getId()})); created = projectRepository.save(created); log.info("[{}] Project created: {}", created.getName(), created.getId()); + created.setContexts(Arrays.asList(new ProjectContext[]{projectContext})); return created; } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/DataImportTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/DataImportTest.java index cf8ccce..674fe36 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/DataImportTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/DataImportTest.java @@ -10,6 +10,7 @@ import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.repository.EntityRepository; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; @@ -62,6 +63,9 @@ public void shouldImportData() throws Exception { .andExpect(status().isCreated()); assertEquals(12443, entityRepository.findAll().size()); + for (Entity entity : entityRepository.findAll()) { + assertEquals(CurationConstants.CONTEXT_DEFAULT, entity.getContext()); + } } @Test diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java index 28dbc7b..e867294 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java @@ -67,13 +67,14 @@ public void shouldGetEntities() throws Exception { .getResponse() .getContentAsString(); - RestResponsePage entitiesPage = mapper.readValue(response, new TypeReference>() { + RestResponsePage entitiesPage = mapper.readValue(response, new TypeReference<>() { }); assertEquals(1, entitiesPage.getTotalElements()); EntityDto actual = entitiesPage.getContent().get(0); assertEquals("Achondroplasia", actual.getName()); assertEquals(EntityStatus.AUTO_MAPPED.name(), actual.getMappingStatus()); + assertEquals(CurationConstants.CONTEXT_DEFAULT, actual.getContext()); assertNotNull(actual.getMapping()); assertEquals("Orphanet:15", actual.getMapping().getOntologyTerms().get(0).getCurie()); @@ -109,11 +110,12 @@ public void shouldGetEntity() throws Exception { .getResponse() .getContentAsString(); - EntityDto actual = mapper.readValue(response, new TypeReference() { + EntityDto actual = mapper.readValue(response, new TypeReference<>() { }); assertEquals("Achondroplasia", actual.getName()); assertEquals(EntityStatus.AUTO_MAPPED.name(), actual.getMappingStatus()); + assertEquals(CurationConstants.CONTEXT_DEFAULT, actual.getContext()); assertNotNull(actual.getMapping()); assertEquals("Orphanet:15", actual.getMapping().getOntologyTerms().get(0).getCurie()); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index 8e75478..6ec2198 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -226,7 +226,7 @@ protected SourceDto createSource(String projectId) throws Exception { protected void createEntityTestData(String sourceId, String projectId, User user) { Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); entity = entityRepository.insert(new Entity(null, "Achondroplasia", RandomStringUtils.randomAlphabetic(10), - RandomStringUtils.randomAlphabetic(10), sourceId, projectId, null, provenance, EntityStatus.AUTO_MAPPED)); + CurationConstants.CONTEXT_DEFAULT, sourceId, projectId, null, provenance, EntityStatus.AUTO_MAPPED)); OntologyTerm orphaTerm = ontologyTermRepository.insert(new OntologyTerm(null, "Orphanet:15", "http://www.orpha.net/ORDO/Orphanet_15", DigestUtils.sha256Hex("http://www.orpha.net/ORDO/Orphanet_15"), "Achondroplasia", TermStatus.CURRENT.name(), null, null)); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java index 7b4ac2e..6e108e0 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java @@ -5,8 +5,10 @@ import org.junit.Test; import org.springframework.beans.factory.annotation.Autowired; import org.springframework.test.context.ContextConfiguration; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.ProjectContext; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.config.ExternalServiceConfig; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; @@ -94,7 +96,7 @@ public void setup() throws Exception { * - Retinal dystrophy */ entity = entityService.createEntity(new Entity(null, "Achondroplasia", RandomStringUtils.randomAlphabetic(10), - RandomStringUtils.randomAlphabetic(10), sourceDto.getId(), project.getId(), 10, provenance, EntityStatus.UNMAPPED)); + CurationConstants.CONTEXT_DEFAULT, sourceDto.getId(), project.getId(), 10, provenance, EntityStatus.UNMAPPED)); } @@ -215,8 +217,10 @@ public void testCase3() { ); this.ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp"}); - this.project.setOntologies(Arrays.asList(new ProjectMappingConfig[]{new ProjectMappingConfig(ProjectMappingConfig.ALL, this.ontologies)})); - this.projectService.updateProject(this.project, this.project.getId(), this.user1); + ProjectContext projectContext = project.getContexts().get(0); + projectContext.setOntologies(this.ontologies); + projectService.updateProjectContext(projectContext, project.getId(), user1); + project = projectService.retrieveProject(project.getId(), user1); matchmakerService.runMatchmaking(sourceDto.getId(), project); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java index 0343b2e..dce2dba 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java @@ -5,6 +5,7 @@ import org.junit.Test; import org.springframework.beans.factory.annotation.Autowired; import org.springframework.test.context.ContextConfiguration; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; import uk.ac.ebi.spot.ontotools.curation.constants.TermStatus; @@ -81,7 +82,7 @@ public void setup() throws Exception { * - Retinal dystrophy */ entity = entityService.createEntity(new Entity(null, "Achondroplasia", RandomStringUtils.randomAlphabetic(10), - RandomStringUtils.randomAlphabetic(10), sourceDto.getId(), project.getId(), 10, provenance, EntityStatus.UNMAPPED)); + CurationConstants.CONTEXT_DEFAULT, sourceDto.getId(), project.getId(), 10, provenance, EntityStatus.UNMAPPED)); } @Test diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectContextsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectContextsControllerTest.java new file mode 100644 index 0000000..761895a --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectContextsControllerTest.java @@ -0,0 +1,232 @@ +package uk.ac.ebi.spot.ontotools.curation; + +import com.fasterxml.jackson.core.type.TypeReference; +import org.junit.Test; +import org.springframework.http.MediaType; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectContextDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; + +import java.util.Arrays; +import java.util.HashMap; +import java.util.Map; + +import static org.junit.Assert.assertEquals; +import static org.junit.Assert.assertTrue; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.*; +import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; + +public class ProjectContextsControllerTest extends IntegrationTest { + + private ProjectDto projectDto; + + public void setup() throws Exception { + super.setup(); + projectDto = super.createProject("New Project", "token1", + Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}), + Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}), + "efo", 0); + } + + + /** + * POST /v1/projects/{projectId}/contexts + */ + @Test + public void shouldCreateContext() throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_CONTEXTS; + ProjectContextDto newProjectContextDto = new ProjectContextDto("species_mouse", "", + Arrays.asList(new String[]{"sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}), + Arrays.asList(new String[]{"efo", "mondo", "mp"}), + Arrays.asList(new String[]{"efo"})); + + String response = mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1") + .content(super.mapper.writeValueAsString(newProjectContextDto))) + .andExpect(status().isCreated()) + .andReturn() + .getResponse() + .getContentAsString(); + + ProjectDto projectResponse = mapper.readValue(response, new TypeReference<>() { + }); + + assertEquals(2, projectResponse.getContexts().size()); + Map contexts = new HashMap<>(); + for (ProjectContextDto projectContextDto : projectResponse.getContexts()) { + contexts.put(projectContextDto.getName(), ""); + } + assertTrue(contexts.containsKey(CurationConstants.CONTEXT_DEFAULT)); + assertTrue(contexts.containsKey(newProjectContextDto.getName())); + for (ProjectContextDto projectContextDto : projectResponse.getContexts()) { + if (projectContextDto.getName().equalsIgnoreCase(newProjectContextDto.getName())) { + assertEquals(newProjectContextDto.getDatasources().size(), projectContextDto.getDatasources().size()); + assertEquals(newProjectContextDto.getOntologies().size(), projectContextDto.getOntologies().size()); + assertEquals(newProjectContextDto.getPreferredMappingOntologies().size(), projectContextDto.getPreferredMappingOntologies().size()); + } + } + } + + /** + * PUT /v1/projects/{projectId}/contexts + */ + @Test + public void shouldUpdateContext() throws Exception { + ProjectContextDto projectContextDto = projectDto.getContexts().get(0); + ProjectContextDto updated = new ProjectContextDto(projectContextDto.getName(), + projectContextDto.getDescription(), + Arrays.asList(new String[]{"sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}), + Arrays.asList(new String[]{"efo", "mondo", "mp"}), + Arrays.asList(new String[]{"efo"})); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_CONTEXTS; + String response = mockMvc.perform(put(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1") + .content(super.mapper.writeValueAsString(updated))) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + ProjectDto projectResponse = mapper.readValue(response, new TypeReference<>() { + }); + + assertEquals(1, projectResponse.getContexts().size()); + assertEquals(CurationConstants.CONTEXT_DEFAULT, projectResponse.getContexts().get(0).getName()); + assertEquals(updated.getDatasources().size(), projectResponse.getContexts().get(0).getDatasources().size()); + assertEquals(updated.getOntologies().size(), projectResponse.getContexts().get(0).getOntologies().size()); + assertEquals(updated.getPreferredMappingOntologies().size(), projectResponse.getContexts().get(0).getPreferredMappingOntologies().size()); + } + + /** + * DELETE /v1/projects/{projectId}/contexts/{contextName} + */ + @Test + public void shouldDeleteContext() throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_CONTEXTS; + ProjectContextDto newProjectContextDto = new ProjectContextDto("species_mouse", "", + Arrays.asList(new String[]{"sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}), + Arrays.asList(new String[]{"efo", "mondo", "mp"}), + Arrays.asList(new String[]{"efo"})); + + String response = mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1") + .content(super.mapper.writeValueAsString(newProjectContextDto))) + .andExpect(status().isCreated()) + .andReturn() + .getResponse() + .getContentAsString(); + + ProjectDto projectResponse = mapper.readValue(response, new TypeReference<>() { + }); + + assertEquals(2, projectResponse.getContexts().size()); + + endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_CONTEXTS + "/" + newProjectContextDto.getName(); + mockMvc.perform(delete(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()); + + endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); + response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + ProjectDto actual = mapper.readValue(response, new TypeReference<>() { + }); + assertEquals(1, actual.getContexts().size()); + assertEquals(CurationConstants.CONTEXT_DEFAULT, actual.getContexts().get(0).getName()); + } + + /** + * DELETE /v1/projects/{projectId}/contexts/{contextName} + */ + @Test + public void shouldNotDeleteDefaultContext() throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_CONTEXTS + "/" + CurationConstants.CONTEXT_DEFAULT; + mockMvc.perform(delete(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isBadRequest()); + } + + /** + * POST /v1/projects/{projectId}/contexts + */ + @Test + public void shouldNotCreateContext() throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_CONTEXTS; + ProjectContextDto newProjectContextDto = new ProjectContextDto("species_mouse", "", + Arrays.asList(new String[]{"sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}), + Arrays.asList(new String[]{"efo", "mondo", "mp"}), + Arrays.asList(new String[]{"efo"})); + + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2") + .content(super.mapper.writeValueAsString(newProjectContextDto))) + .andExpect(status().isNotFound()); + } + + /** + * PUT /v1/projects/{projectId}/contexts + */ + @Test + public void shouldNotUpdateContext() throws Exception { + ProjectContextDto projectContextDto = projectDto.getContexts().get(0); + ProjectContextDto updated = new ProjectContextDto(projectContextDto.getName(), + projectContextDto.getDescription(), + Arrays.asList(new String[]{"sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}), + Arrays.asList(new String[]{"efo", "mondo", "mp"}), + Arrays.asList(new String[]{"efo"})); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_CONTEXTS; + mockMvc.perform(put(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2") + .content(super.mapper.writeValueAsString(updated))) + .andExpect(status().isNotFound()); + } + + /** + * DELETE /v1/projects/{projectId}/contexts/{contextName} + */ + @Test + public void shouldNotDeleteContext() throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_CONTEXTS; + ProjectContextDto newProjectContextDto = new ProjectContextDto("species_mouse", "", + Arrays.asList(new String[]{"sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}), + Arrays.asList(new String[]{"efo", "mondo", "mp"}), + Arrays.asList(new String[]{"efo"})); + + String response = mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1") + .content(super.mapper.writeValueAsString(newProjectContextDto))) + .andExpect(status().isCreated()) + .andReturn() + .getResponse() + .getContentAsString(); + + ProjectDto projectResponse = mapper.readValue(response, new TypeReference<>() { + }); + + assertEquals(2, projectResponse.getContexts().size()); + + endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_CONTEXTS + "/" + newProjectContextDto.getName(); + mockMvc.perform(delete(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } +} diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java index 11fac3b..a7bee16 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java @@ -26,6 +26,17 @@ public void shouldCreateProject() throws Exception { super.createProject("New Project", "token1", null, null, null, 0); } + /** + * POST /v1/projects + */ + @Test + public void shouldCreateProjectWithDatasources() throws Exception { + super.createProject("New Project", "token1", + Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}), + Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}), + "efo", 0); + } + /** * GET /v1/projects */ diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/PublicDataControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/PublicDataControllerTest.java index b4c6756..35e0644 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/PublicDataControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/PublicDataControllerTest.java @@ -88,7 +88,7 @@ public void setup() throws Exception { * - Retinal dystrophy */ entity = entityService.createEntity(new Entity(null, "Achondroplasia", RandomStringUtils.randomAlphabetic(10), - RandomStringUtils.randomAlphabetic(10), sourceDto.getId(), project.getId(), 10, provenance, EntityStatus.UNMAPPED)); + CurationConstants.CONTEXT_DEFAULT, sourceDto.getId(), project.getId(), 10, provenance, EntityStatus.UNMAPPED)); matchmakerService.runMatchmaking(sourceDto.getId(), project); } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/UsersControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/UsersControllerTest.java index 4960213..d04e794 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/UsersControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/UsersControllerTest.java @@ -36,7 +36,7 @@ public void shouldGetUsersForProject() throws Exception { .getResponse() .getContentAsString(); - List actual = mapper.readValue(response, new TypeReference>() { + List actual = mapper.readValue(response, new TypeReference<>() { }); assertEquals(1, actual.size()); @@ -111,7 +111,7 @@ public void shouldAddUserToProject() throws Exception { .getResponse() .getContentAsString(); - UserDto actual = mapper.readValue(response, new TypeReference() { + UserDto actual = mapper.readValue(response, new TypeReference<>() { }); assertEquals(user2.getEmail(), actual.getEmail()); @@ -127,7 +127,7 @@ public void shouldAddUserToProject() throws Exception { .getResponse() .getContentAsString(); - List actualList = mapper.readValue(response, new TypeReference>() { + List actualList = mapper.readValue(response, new TypeReference<>() { }); assertEquals(2, actualList.size()); @@ -146,7 +146,7 @@ public void shouldAddUserToProject() throws Exception { .getResponse() .getContentAsString(); - ProjectDto actualProject = mapper.readValue(response, new TypeReference() { + ProjectDto actualProject = mapper.readValue(response, new TypeReference<>() { }); assertEquals(projectDto.getName(), actualProject.getName()); assertEquals(projectDto.getDescription(), actualProject.getDescription()); @@ -222,7 +222,7 @@ public void shouldUpdateUserToProject() throws Exception { .getResponse() .getContentAsString(); - UserDto actual = mapper.readValue(response, new TypeReference() { + UserDto actual = mapper.readValue(response, new TypeReference<>() { }); assertEquals(user2.getEmail(), actual.getEmail()); @@ -241,7 +241,7 @@ public void shouldUpdateUserToProject() throws Exception { .getResponse() .getContentAsString(); - actual = mapper.readValue(response, new TypeReference() { + actual = mapper.readValue(response, new TypeReference<>() { }); assertEquals(user2.getEmail(), actual.getEmail()); @@ -321,7 +321,7 @@ public void shouldDeleteUserRolesInProject() throws Exception { .getResponse() .getContentAsString(); - UserDto actual = mapper.readValue(response, new TypeReference() { + UserDto actual = mapper.readValue(response, new TypeReference<>() { }); assertEquals(user2.getEmail(), actual.getEmail()); @@ -350,7 +350,7 @@ public void shouldDeleteUserRolesInProject() throws Exception { .getResponse() .getContentAsString(); - List actualList = mapper.readValue(response, new TypeReference>() { + List actualList = mapper.readValue(response, new TypeReference<>() { }); assertEquals(1, actualList.size()); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectMappingConfigDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectContextDtoTest.java similarity index 65% rename from src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectMappingConfigDtoTest.java rename to src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectContextDtoTest.java index f72b015..2703a04 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectMappingConfigDtoTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ProjectContextDtoTest.java @@ -3,11 +3,11 @@ import nl.jqno.equalsverifier.EqualsVerifier; import org.junit.Test; -public class ProjectMappingConfigDtoTest { +public class ProjectContextDtoTest { @Test public void equalsContract() { - EqualsVerifier.forClass(ProjectMappingConfigDto.class) + EqualsVerifier.forClass(ProjectContextDto.class) .verify(); } From 81ff55fb97a79160cb5418714b26b45d76e587a7 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Tue, 16 Mar 2021 21:14:51 +0800 Subject: [PATCH 46/72] Added priority field to Entity. --- .../curation/rest/assembler/EntityDtoAssembler.java | 1 + .../ebi/spot/ontotools/curation/rest/dto/EntityDto.java | 9 +++++++++ 2 files changed, 10 insertions(+) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java index a633ec3..25e3ac7 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java @@ -26,6 +26,7 @@ public static EntityDto assemble(Entity entity, SourceDto source, Mapping mappin entity.getName(), entity.getBaseId(), entity.getContext(), + entity.getPriority(), entity.getMappingStatus().name(), mappingSuggestionDtos, mappingDto, diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java index b12983f..efccc9d 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/EntityDto.java @@ -34,6 +34,9 @@ public final class EntityDto implements Serializable { @JsonProperty("context") private final String context; + @JsonProperty("priority") + private final Integer priority; + @JsonProperty("mappingStatus") private final String mappingStatus; @@ -55,6 +58,7 @@ public EntityDto(@JsonProperty("id") String id, @JsonProperty("name") String name, @JsonProperty("upstreamId") String upstreamId, @JsonProperty("context") String context, + @JsonProperty("priority") Integer priority, @JsonProperty("mappingStatus") String mappingStatus, @JsonProperty("mappingSuggestions") List mappingSuggestions, @JsonProperty("mapping") MappingDto mapping, @@ -64,6 +68,7 @@ public EntityDto(@JsonProperty("id") String id, this.source = source; this.name = name; this.upstreamId = upstreamId; + this.priority = priority; this.context = context; this.mappingStatus = mappingStatus; this.mappingSuggestions = mappingSuggestions; @@ -109,6 +114,10 @@ public String getContext() { return context; } + public Integer getPriority() { + return priority; + } + public List getAuditTrail() { return auditTrail; } From 2d6405af5a4ca5a5e92ba78ebc0604cb437946ad Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Wed, 17 Mar 2021 12:11:26 +0800 Subject: [PATCH 47/72] ontotools-curator#48 ontotools-curator#49 --- .../curation/domain/FailedImportLogEntry.java | 26 ++++++ .../curation/domain/ImportLogBatch.java | 37 +++++++++ .../curation/domain/MatchmakingLogBatch.java | 25 ++++++ .../curation/domain/MatchmakingLogEntry.java | 30 +++++++ .../FailedImportLogEntryRepository.java | 8 ++ .../repository/ImportLogBatchRepository.java | 8 ++ .../MatchmakingLogBatchRepository.java | 8 ++ .../MatchmakingLogEntryRepository.java | 8 ++ .../curation/service/ImportLogService.java | 12 +++ .../service/MatchmakingLogService.java | 10 +++ .../service/impl/ConfigRegistryImpl.java | 2 +- .../service/impl/DataImportServiceImpl.java | 36 +++++--- .../impl/ExportExecutorServiceImpl.java | 2 +- .../service/impl/ImportLogServiceImpl.java | 49 +++++++++++ .../impl/MappingSuggestionsServiceImpl.java | 2 +- .../service/impl/MatchmakerServiceImpl.java | 35 +++----- .../impl/MatchmakingLogServiceImpl.java | 33 ++++++++ .../service/impl/OntologyTermServiceImpl.java | 82 ++++++++++--------- .../ontotools/curation/util/CurationUtil.java | 24 ++++++ .../ontotools/curation/IntegrationTest.java | 1 - 20 files changed, 363 insertions(+), 75 deletions(-) create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/FailedImportLogEntry.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ImportLogBatch.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MatchmakingLogBatch.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MatchmakingLogEntry.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/FailedImportLogEntryRepository.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ImportLogBatchRepository.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MatchmakingLogBatchRepository.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MatchmakingLogEntryRepository.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ImportLogService.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakingLogService.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ImportLogServiceImpl.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakingLogServiceImpl.java diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/FailedImportLogEntry.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/FailedImportLogEntry.java new file mode 100644 index 0000000..dc1d131 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/FailedImportLogEntry.java @@ -0,0 +1,26 @@ +package uk.ac.ebi.spot.ontotools.curation.domain; + +import lombok.AllArgsConstructor; +import lombok.Getter; +import org.springframework.data.annotation.Id; +import org.springframework.data.mongodb.core.index.Indexed; +import org.springframework.data.mongodb.core.mapping.Document; + +import java.util.List; +import java.util.Set; + +@AllArgsConstructor +@Getter +@Document(collection = "failedImportLogEntries") +public class FailedImportLogEntry { + + @Id + private String id; + + @Indexed + private String batchId; + + private String entityName; + + private String context; +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ImportLogBatch.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ImportLogBatch.java new file mode 100644 index 0000000..2d8c468 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ImportLogBatch.java @@ -0,0 +1,37 @@ +package uk.ac.ebi.spot.ontotools.curation.domain; + +import lombok.AllArgsConstructor; +import lombok.Getter; +import lombok.NoArgsConstructor; +import lombok.Setter; +import org.joda.time.DateTime; +import org.springframework.data.annotation.Id; +import org.springframework.data.mongodb.core.index.CompoundIndex; +import org.springframework.data.mongodb.core.index.CompoundIndexes; +import org.springframework.data.mongodb.core.index.Indexed; +import org.springframework.data.mongodb.core.mapping.Document; + +@NoArgsConstructor +@AllArgsConstructor +@Getter +@Setter +@Document(collection = "importLogBatches") +@CompoundIndexes({@CompoundIndex(name = "pTime", def = "{'projectId': 1, 'timestamp': 1}")}) +public class ImportLogBatch { + + @Id + private String id; + + @Indexed + private String projectId; + + private String sourceId; + + private DateTime timestamp; + + private long totalTime; + + private int totalCount; + + private int successful; +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MatchmakingLogBatch.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MatchmakingLogBatch.java new file mode 100644 index 0000000..2c40c96 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MatchmakingLogBatch.java @@ -0,0 +1,25 @@ +package uk.ac.ebi.spot.ontotools.curation.domain; + +import lombok.AllArgsConstructor; +import lombok.Getter; +import org.joda.time.DateTime; +import org.springframework.data.annotation.Id; +import org.springframework.data.mongodb.core.index.CompoundIndex; +import org.springframework.data.mongodb.core.index.CompoundIndexes; +import org.springframework.data.mongodb.core.index.Indexed; +import org.springframework.data.mongodb.core.mapping.Document; + +@AllArgsConstructor +@Getter +@Document(collection = "matchmakingLogBatches") +@CompoundIndexes({@CompoundIndex(name = "pTime", def = "{'projectId': 1, 'timestamp': 1}")}) +public class MatchmakingLogBatch { + + @Id + private String id; + + @Indexed + private String projectId; + + private DateTime timestamp; +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MatchmakingLogEntry.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MatchmakingLogEntry.java new file mode 100644 index 0000000..9670cce --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MatchmakingLogEntry.java @@ -0,0 +1,30 @@ +package uk.ac.ebi.spot.ontotools.curation.domain; + +import lombok.AllArgsConstructor; +import lombok.Getter; +import org.springframework.data.annotation.Id; +import org.springframework.data.mongodb.core.index.Indexed; +import org.springframework.data.mongodb.core.mapping.Document; + +import java.util.List; +import java.util.Set; + +@AllArgsConstructor +@Getter +@Document(collection = "matchmakingLogEntries") +public class MatchmakingLogEntry { + + @Id + private String id; + + @Indexed + private String batchId; + + private String entityId; + + private String entityName; + + private List highConfidenceURIs; + + private Set finalURIs; +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/FailedImportLogEntryRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/FailedImportLogEntryRepository.java new file mode 100644 index 0000000..8e6489d --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/FailedImportLogEntryRepository.java @@ -0,0 +1,8 @@ +package uk.ac.ebi.spot.ontotools.curation.repository; + +import org.springframework.data.mongodb.repository.MongoRepository; +import uk.ac.ebi.spot.ontotools.curation.domain.FailedImportLogEntry; + +public interface FailedImportLogEntryRepository extends MongoRepository { + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ImportLogBatchRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ImportLogBatchRepository.java new file mode 100644 index 0000000..e175699 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ImportLogBatchRepository.java @@ -0,0 +1,8 @@ +package uk.ac.ebi.spot.ontotools.curation.repository; + +import org.springframework.data.mongodb.repository.MongoRepository; +import uk.ac.ebi.spot.ontotools.curation.domain.ImportLogBatch; + +public interface ImportLogBatchRepository extends MongoRepository { + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MatchmakingLogBatchRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MatchmakingLogBatchRepository.java new file mode 100644 index 0000000..b2aa687 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MatchmakingLogBatchRepository.java @@ -0,0 +1,8 @@ +package uk.ac.ebi.spot.ontotools.curation.repository; + +import org.springframework.data.mongodb.repository.MongoRepository; +import uk.ac.ebi.spot.ontotools.curation.domain.MatchmakingLogBatch; + +public interface MatchmakingLogBatchRepository extends MongoRepository { + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MatchmakingLogEntryRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MatchmakingLogEntryRepository.java new file mode 100644 index 0000000..5aebb85 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MatchmakingLogEntryRepository.java @@ -0,0 +1,8 @@ +package uk.ac.ebi.spot.ontotools.curation.repository; + +import org.springframework.data.mongodb.repository.MongoRepository; +import uk.ac.ebi.spot.ontotools.curation.domain.MatchmakingLogEntry; + +public interface MatchmakingLogEntryRepository extends MongoRepository { + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ImportLogService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ImportLogService.java new file mode 100644 index 0000000..e2a4e71 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ImportLogService.java @@ -0,0 +1,12 @@ +package uk.ac.ebi.spot.ontotools.curation.service; + +import uk.ac.ebi.spot.ontotools.curation.domain.FailedImportLogEntry; + +public interface ImportLogService { + + void logEntry(FailedImportLogEntry failedImportLogEntry); + + String createBatch(String projectId, String sourceId); + + void updateBatch(String batchId, long tTime, int count, int successful); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakingLogService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakingLogService.java new file mode 100644 index 0000000..b2ecb2f --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakingLogService.java @@ -0,0 +1,10 @@ +package uk.ac.ebi.spot.ontotools.curation.service; + +import uk.ac.ebi.spot.ontotools.curation.domain.MatchmakingLogEntry; + +public interface MatchmakingLogService { + + void logEntry(MatchmakingLogEntry matchmakingLogEntry); + + String createBatch(String projectId); +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ConfigRegistryImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ConfigRegistryImpl.java index a0038ff..3af2dfb 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ConfigRegistryImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ConfigRegistryImpl.java @@ -26,7 +26,7 @@ public void registerListener(ConfigListener configListener) { } @Override - @Async + @Async(value = "applicationTaskExecutor") public void updateAliases(ExternalServiceConfig externalServiceConfig) { ConfigListener configListener = configListenerMap.get(externalServiceConfig.getName()); if (configListener != null) { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java index 5d03469..4ff9d25 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java @@ -2,6 +2,7 @@ import com.fasterxml.jackson.core.type.TypeReference; import com.fasterxml.jackson.databind.ObjectMapper; +import org.apache.commons.lang3.tuple.Pair; import org.joda.time.DateTime; import org.slf4j.Logger; import org.slf4j.LoggerFactory; @@ -10,17 +11,13 @@ import org.springframework.stereotype.Service; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; -import uk.ac.ebi.spot.ontotools.curation.domain.Project; -import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; -import uk.ac.ebi.spot.ontotools.curation.domain.Source; +import uk.ac.ebi.spot.ontotools.curation.domain.*; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.rest.dto.dataimport.ImportDataElementDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.dataimport.ImportDataPackageDto; -import uk.ac.ebi.spot.ontotools.curation.service.DataImportService; -import uk.ac.ebi.spot.ontotools.curation.service.EntityService; -import uk.ac.ebi.spot.ontotools.curation.service.MatchmakerService; -import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; +import uk.ac.ebi.spot.ontotools.curation.service.*; +import uk.ac.ebi.spot.ontotools.curation.util.CurationUtil; import javax.annotation.PostConstruct; import java.io.IOException; @@ -39,6 +36,9 @@ public class DataImportServiceImpl implements DataImportService { @Autowired private MatchmakerService matchmakerService; + @Autowired + private ImportLogService importLogService; + private ObjectMapper objectMapper; @PostConstruct @@ -52,6 +52,7 @@ public void importData(String fileData, String projectId, Source source, User us log.info("[{} | {}] Importing data from file.", projectId, source.getId()); Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); Project project = projectService.retrieveProject(projectId, user); + String batchId = importLogService.createBatch(projectId, source.getId()); try { ImportDataPackageDto importDataPackageDto = this.objectMapper.readValue(fileData, new TypeReference<>() { }); @@ -60,18 +61,31 @@ public void importData(String fileData, String projectId, Source source, User us long sTime = System.currentTimeMillis(); log.info("Creating entities ..."); int count = 0; + int successful = 0; for (ImportDataElementDto importDataElementDto : importDataPackageDto.getData()) { + count++; + String context = CurationConstants.CONTEXT_DEFAULT; + if (importDataElementDto.getContext() != null) { + Pair projectContextInfo = CurationUtil.findContext(importDataElementDto.getContext(), project); + if (!projectContextInfo.getRight()) { + importLogService.logEntry(new FailedImportLogEntry(null, batchId, importDataElementDto.getText(), importDataElementDto.getContext())); + continue; + } + context = projectContextInfo.getLeft().getName(); + } + entityService.createEntity(new Entity(null, importDataElementDto.getText(), - importDataElementDto.getUpstreamId(), - importDataElementDto.getContext() == null ? CurationConstants.CONTEXT_DEFAULT : importDataElementDto.getContext(), + importDataElementDto.getUpstreamId(), context, source.getId(), projectId, importDataElementDto.getPriority(), provenance, EntityStatus.UNMAPPED)); - count++; + successful++; if (count % 100 == 0) { log.info(" -- [{} | {}] Progress: {} of {}", projectId, source.getId(), count, importDataPackageDto.getData().size()); } } long eTime = System.currentTimeMillis(); - log.info("{} entities created [{}s]", count, (eTime - sTime) / 1000); + long tTime = (eTime - sTime) / 1000; + log.info("{} entities created [{}s]", count, tTime); + importLogService.updateBatch(batchId, tTime, count, successful); matchmakerService.runMatchmaking(source.getId(), project); } catch (IOException e) { log.error("Unable to deserialize import data file: {}", e.getMessage(), e); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ExportExecutorServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ExportExecutorServiceImpl.java index aaedb67..29e2318 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ExportExecutorServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ExportExecutorServiceImpl.java @@ -61,7 +61,7 @@ public void initialize() { } @Override - @Async + @Async(value = "applicationTaskExecutor") public void addToQueue(ProjectExportRequest projectExportRequest) { log.info("Adding request to queue: {} | {}", projectExportRequest.getProjectId(), projectExportRequest.getRequestId()); requestQueue.add(projectExportRequest.getId()); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ImportLogServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ImportLogServiceImpl.java new file mode 100644 index 0000000..1e6b35f --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ImportLogServiceImpl.java @@ -0,0 +1,49 @@ +package uk.ac.ebi.spot.ontotools.curation.service.impl; + +import org.joda.time.DateTime; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.scheduling.annotation.Async; +import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.domain.FailedImportLogEntry; +import uk.ac.ebi.spot.ontotools.curation.domain.ImportLogBatch; +import uk.ac.ebi.spot.ontotools.curation.repository.FailedImportLogEntryRepository; +import uk.ac.ebi.spot.ontotools.curation.repository.ImportLogBatchRepository; +import uk.ac.ebi.spot.ontotools.curation.service.ImportLogService; + +import java.util.Optional; + +@Service +public class ImportLogServiceImpl implements ImportLogService { + + @Autowired + private FailedImportLogEntryRepository failedImportLogEntryRepository; + + @Autowired + private ImportLogBatchRepository importLogBatchRepository; + + @Async(value = "applicationTaskExecutor") + @Override + public void logEntry(FailedImportLogEntry failedImportLogEntry) { + failedImportLogEntryRepository.insert(failedImportLogEntry); + } + + @Override + public String createBatch(String projectId, String sourceId) { + ImportLogBatch importLogBatch = importLogBatchRepository.insert(new ImportLogBatch(null, projectId, sourceId, DateTime.now(), + -1, -1, -1)); + return importLogBatch.getId(); + } + + @Async(value = "applicationTaskExecutor") + @Override + public void updateBatch(String batchId, long tTime, int count, int successful) { + Optional importLogBatchOptional = importLogBatchRepository.findById(batchId); + if (importLogBatchOptional.isPresent()) { + ImportLogBatch importLogBatch = importLogBatchOptional.get(); + importLogBatch.setTotalTime(tTime); + importLogBatch.setTotalCount(count); + importLogBatch.setSuccessful(successful); + importLogBatchRepository.save(importLogBatch); + } + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java index a132361..295df19 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java @@ -48,7 +48,7 @@ public MappingSuggestion createMappingSuggestion(Entity entity, OntologyTerm ont } @Override - @Async + @Async(value = "applicationTaskExecutor") public void deleteMappingSuggestionsExcluding(Entity entity, List ontologyTerms, Provenance provenance) { log.info("Deleting [{}] old mapping suggestions for: {}", ontologyTerms.size(), entity.getName()); List ontologyTermIds = new ArrayList<>(); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java index 01c7612..1a4c912 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java @@ -1,13 +1,14 @@ package uk.ac.ebi.spot.ontotools.curation.service.impl; +import org.apache.commons.lang3.tuple.Pair; import org.joda.time.DateTime; import org.slf4j.Logger; import org.slf4j.LoggerFactory; import org.springframework.beans.factory.annotation.Autowired; import org.springframework.scheduling.annotation.Async; import org.springframework.stereotype.Service; -import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; +import uk.ac.ebi.spot.ontotools.curation.domain.MatchmakingLogEntry; import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.domain.ProjectContext; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; @@ -49,6 +50,9 @@ public class MatchmakerServiceImpl implements MatchmakerService { @Autowired private UserService userService; + @Autowired + private MatchmakingLogService matchmakingLogService; + @Override @Async(value = "applicationTaskExecutor") public void runMatchmaking(String sourceId, Project project) { @@ -57,35 +61,20 @@ public void runMatchmaking(String sourceId, Project project) { long sTime = System.currentTimeMillis(); Stream entityStream = entityService.retrieveEntitiesForSource(sourceId); - entityStream.forEach(entity -> this.autoMap(entity, project, robotUser)); + entityStream.forEach(entity -> this.autoMap(entity, project, robotUser, matchmakingLogService.createBatch(project.getId()))); entityStream.close(); long eTime = System.currentTimeMillis(); log.info("[{}] Auto-mapping done in {}s", sourceId, (eTime - sTime) / 1000); } - private ProjectContext findContext(String contextName, String entityName, Project project) { - ProjectContext projectContext = null; - ProjectContext defaultContext = null; - for (ProjectContext pc : project.getContexts()) { - if (pc.getName().equalsIgnoreCase(contextName)) { - projectContext = pc; - break; - } - if (pc.getName().equalsIgnoreCase(CurationConstants.CONTEXT_DEFAULT)) { - defaultContext = pc; - } - } - if (projectContext == null) { - log.error("Cannot find context [{}] for entity [{}] in project: {}", contextName, entityName, project.getId()); - return defaultContext; + private void autoMap(Entity entity, Project project, User user, String batchId) { + Pair projectContextInfo = CurationUtil.findContext(entity.getContext(), project); + if (!projectContextInfo.getRight()) { + log.error("Cannot find context [{}] for entity [{}] in project: {}", entity.getContext(), entity.getName(), project.getId()); } + ProjectContext projectContext = projectContextInfo.getLeft(); - return projectContext; - } - - private void autoMap(Entity entity, Project project, User user) { - ProjectContext projectContext = this.findContext(entity.getContext(), entity.getName(), project); List projectDatasources = projectContext.getDatasources(); List projectOntologies = projectContext.getOntologies(); @@ -127,6 +116,8 @@ private void autoMap(Entity entity, Project project, User user) { } } + matchmakingLogService.logEntry(new MatchmakingLogEntry(null, batchId, entity.getId(), + entity.getName(), highConfidenceIRIs, finalIRIs)); Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); List termsCreated = new ArrayList<>(); for (String iri : finalIRIs) { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakingLogServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakingLogServiceImpl.java new file mode 100644 index 0000000..5e7d6ce --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakingLogServiceImpl.java @@ -0,0 +1,33 @@ +package uk.ac.ebi.spot.ontotools.curation.service.impl; + +import org.joda.time.DateTime; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.scheduling.annotation.Async; +import org.springframework.stereotype.Service; +import uk.ac.ebi.spot.ontotools.curation.domain.MatchmakingLogBatch; +import uk.ac.ebi.spot.ontotools.curation.domain.MatchmakingLogEntry; +import uk.ac.ebi.spot.ontotools.curation.repository.MatchmakingLogBatchRepository; +import uk.ac.ebi.spot.ontotools.curation.repository.MatchmakingLogEntryRepository; +import uk.ac.ebi.spot.ontotools.curation.service.MatchmakingLogService; + +@Service +public class MatchmakingLogServiceImpl implements MatchmakingLogService { + + @Autowired + private MatchmakingLogEntryRepository matchmakingLogEntryRepository; + + @Autowired + private MatchmakingLogBatchRepository matchmakingLogBatchRepository; + + @Async(value = "applicationTaskExecutor") + @Override + public void logEntry(MatchmakingLogEntry matchmakingLogEntry) { + matchmakingLogEntryRepository.insert(matchmakingLogEntry); + } + + @Override + public String createBatch(String projectId) { + MatchmakingLogBatch matchmakingLogBatch = matchmakingLogBatchRepository.insert(new MatchmakingLogBatch(null, projectId, DateTime.now())); + return matchmakingLogBatch.getId(); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java index 98ceb22..7699be4 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java @@ -46,50 +46,56 @@ public OntologyTerm createTerm(OntologyTerm term) { @Override public OntologyTerm createTerm(String iri, ProjectContext projectContext) { log.info("Creating term: {}", iri); - Optional ontologyTermOp = ontologyTermRepository.findByIriHash(DigestUtils.sha256Hex(iri)); - if (ontologyTermOp.isPresent()) { - log.warn("Ontology term already exists: {} | {}", ontologyTermOp.get().getCurie(), ontologyTermOp.get().getLabel()); - return ontologyTermOp.get(); - } + try { + Optional ontologyTermOp = ontologyTermRepository.findByIriHash(DigestUtils.sha256Hex(iri)); + if (ontologyTermOp.isPresent()) { + log.warn("Ontology term already exists: {} | {}", ontologyTermOp.get().getCurie(), ontologyTermOp.get().getLabel()); + return ontologyTermOp.get(); + } - List preferredOntoResponse = new ArrayList<>(); - for (String preferredOntology : projectContext.getPreferredMappingOntologies()) { - preferredOntoResponse.addAll(olsService.retrieveTerms(preferredOntology, iri)); - } - List parentOntoResponse = new ArrayList<>(); - String ontoId = CurationUtil.ontoFromIRI(iri); - String termStatus; - if (!projectContext.getPreferredMappingOntologies().contains(ontoId.toLowerCase())) { - parentOntoResponse = olsService.retrieveTerms(ontoId, iri); - termStatus = parseStatus(preferredOntoResponse, parentOntoResponse, null); - } else { - termStatus = parseStatus(preferredOntoResponse, null, null); - } + List preferredOntoResponse = new ArrayList<>(); + for (String preferredOntology : projectContext.getPreferredMappingOntologies()) { + preferredOntoResponse.addAll(olsService.retrieveTerms(preferredOntology, iri)); + } + List parentOntoResponse = new ArrayList<>(); + String ontoId = CurationUtil.ontoFromIRI(iri); + String termStatus; + if (!projectContext.getPreferredMappingOntologies().contains(ontoId.toLowerCase())) { + parentOntoResponse = olsService.retrieveTerms(ontoId, iri); + termStatus = parseStatus(preferredOntoResponse, parentOntoResponse, null); + } else { + termStatus = parseStatus(preferredOntoResponse, null, null); + } - OntologyTerm ot; - if (termStatus.equalsIgnoreCase(TermStatus.DELETED.name())) { - /** - * TODO: Discuss - * - * Previous code: - * ot = new OntologyTerm(null, "Not found", iri, DigestUtils.sha256Hex(iri), "Not found", MappingStatus.DELETED.name(), null, null); - */ - log.warn("Found DELETED term: {}", iri); - return null; - } else { - if (termStatus.equalsIgnoreCase(TermStatus.CURRENT.name())) { - OLSTermDto olsTermDto = preferredOntoResponse.get(0); - ot = new OntologyTerm(null, olsTermDto.getCurie(), iri, - DigestUtils.sha256Hex(iri), olsTermDto.getLabel(), TermStatus.CURRENT.name(), null, null); + OntologyTerm ot; + if (termStatus.equalsIgnoreCase(TermStatus.DELETED.name())) { + /** + * TODO: Discuss + * + * Previous code: + * ot = new OntologyTerm(null, "Not found", iri, DigestUtils.sha256Hex(iri), "Not found", MappingStatus.DELETED.name(), null, null); + */ + log.warn("Found DELETED term: {}", iri); + return null; } else { - OLSTermDto olsTermDto = parentOntoResponse.get(0); - ot = new OntologyTerm(null, olsTermDto.getCurie(), olsTermDto.getIri(), DigestUtils.sha256Hex(olsTermDto.getIri()), olsTermDto.getLabel(), termStatus, null, null); + if (termStatus.equalsIgnoreCase(TermStatus.CURRENT.name())) { + OLSTermDto olsTermDto = preferredOntoResponse.get(0); + ot = new OntologyTerm(null, olsTermDto.getCurie(), iri, + DigestUtils.sha256Hex(iri), olsTermDto.getLabel(), TermStatus.CURRENT.name(), null, null); + } else { + OLSTermDto olsTermDto = parentOntoResponse.get(0); + ot = new OntologyTerm(null, olsTermDto.getCurie(), olsTermDto.getIri(), DigestUtils.sha256Hex(olsTermDto.getIri()), olsTermDto.getLabel(), termStatus, null, null); + } } + + ot = ontologyTermRepository.insert(ot); + log.info("Created ontology term [{} | {}]: {}", ot.getCurie(), ot.getLabel(), ot.getId()); + return ot; + } catch (Exception e) { + log.error("ERROR: {}", e.getMessage(), e); } - ot = ontologyTermRepository.insert(ot); - log.info("Created ontology term [{} | {}]: {}", ot.getCurie(), ot.getLabel(), ot.getId()); - return ot; + return null; } @Override diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java index dbd0a05..321bbe9 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java @@ -1,6 +1,10 @@ package uk.ac.ebi.spot.ontotools.curation.util; +import org.apache.commons.lang3.tuple.Pair; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.ProjectContext; import java.util.ArrayList; import java.util.HashMap; @@ -68,4 +72,24 @@ public static Map parseAliases(List aliasList) { return map; } + public static Pair findContext(String contextName, Project project) { + ProjectContext projectContext = null; + ProjectContext defaultContext = null; + for (ProjectContext pc : project.getContexts()) { + if (pc.getName().equalsIgnoreCase(contextName)) { + projectContext = pc; + break; + } + if (pc.getName().equalsIgnoreCase(CurationConstants.CONTEXT_DEFAULT)) { + defaultContext = pc; + } + } + + if (projectContext == null) { + return Pair.of(defaultContext, false); + } + + return Pair.of(projectContext, true); + } + } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index 6ec2198..293258d 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -159,7 +159,6 @@ protected ProjectDto createProject(String name, String token, String preferredMappingOntology, int noReviewsRequired) throws Exception { String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS; - ProjectCreationDto projectCreationDto = new ProjectCreationDto(name, "Description", noReviewsRequired, datasources != null ? datasources : new ArrayList<>(), ontologies != null ? ontologies : new ArrayList<>(), From c85fd33a69e79c99ac20ed89eea9c1b5bc7c797d Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Wed, 17 Mar 2021 13:57:29 +0800 Subject: [PATCH 48/72] Fixed field type and batch generator. --- .../ac/ebi/spot/ontotools/curation/domain/ImportLogBatch.java | 2 +- .../ebi/spot/ontotools/curation/service/ImportLogService.java | 2 +- .../ontotools/curation/service/impl/DataImportServiceImpl.java | 2 +- .../ontotools/curation/service/impl/ImportLogServiceImpl.java | 2 +- .../ontotools/curation/service/impl/MatchmakerServiceImpl.java | 3 ++- 5 files changed, 6 insertions(+), 5 deletions(-) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ImportLogBatch.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ImportLogBatch.java index 2d8c468..f7cbe60 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ImportLogBatch.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ImportLogBatch.java @@ -29,7 +29,7 @@ public class ImportLogBatch { private DateTime timestamp; - private long totalTime; + private int totalTime; private int totalCount; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ImportLogService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ImportLogService.java index e2a4e71..b7ed8e6 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ImportLogService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ImportLogService.java @@ -8,5 +8,5 @@ public interface ImportLogService { String createBatch(String projectId, String sourceId); - void updateBatch(String batchId, long tTime, int count, int successful); + void updateBatch(String batchId, int tTime, int count, int successful); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java index 4ff9d25..d083da4 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java @@ -85,7 +85,7 @@ public void importData(String fileData, String projectId, Source source, User us long eTime = System.currentTimeMillis(); long tTime = (eTime - sTime) / 1000; log.info("{} entities created [{}s]", count, tTime); - importLogService.updateBatch(batchId, tTime, count, successful); + importLogService.updateBatch(batchId, (int) tTime, count, successful); matchmakerService.runMatchmaking(source.getId(), project); } catch (IOException e) { log.error("Unable to deserialize import data file: {}", e.getMessage(), e); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ImportLogServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ImportLogServiceImpl.java index 1e6b35f..1d32226 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ImportLogServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ImportLogServiceImpl.java @@ -36,7 +36,7 @@ public String createBatch(String projectId, String sourceId) { @Async(value = "applicationTaskExecutor") @Override - public void updateBatch(String batchId, long tTime, int count, int successful) { + public void updateBatch(String batchId, int tTime, int count, int successful) { Optional importLogBatchOptional = importLogBatchRepository.findById(batchId); if (importLogBatchOptional.isPresent()) { ImportLogBatch importLogBatch = importLogBatchOptional.get(); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java index 1a4c912..1ceb261 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java @@ -58,10 +58,11 @@ public class MatchmakerServiceImpl implements MatchmakerService { public void runMatchmaking(String sourceId, Project project) { log.info("Running auto-mapping for source: {}", sourceId); User robotUser = userService.retrieveRobotUser(); + String batchId = matchmakingLogService.createBatch(project.getId()); long sTime = System.currentTimeMillis(); Stream entityStream = entityService.retrieveEntitiesForSource(sourceId); - entityStream.forEach(entity -> this.autoMap(entity, project, robotUser, matchmakingLogService.createBatch(project.getId()))); + entityStream.forEach(entity -> this.autoMap(entity, project, robotUser, batchId)); entityStream.close(); long eTime = System.currentTimeMillis(); log.info("[{}] Auto-mapping done in {}s", sourceId, (eTime - sTime) / 1000); From 3d9d0aa2af054830fcf5cff64470382b6876f943 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Wed, 17 Mar 2021 20:52:27 +0800 Subject: [PATCH 49/72] Changed mapping create process. --- .../repository/OntologyTermRepository.java | 2 ++ .../rest/controller/MappingsController.java | 16 +++++++---- .../rest/dto/mapping/MappingCreationDto.java | 14 ++++++---- .../curation/service/MappingService.java | 2 +- .../curation/service/OntologyTermService.java | 2 ++ .../service/impl/MappingServiceImpl.java | 24 +++++++--------- .../service/impl/MatchmakerServiceImpl.java | 28 +++++++++++-------- .../service/impl/OntologyTermServiceImpl.java | 8 ++++++ .../curation/MappingsControllerTest.java | 9 +++--- 9 files changed, 62 insertions(+), 43 deletions(-) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java index ea2f9da..7705ad5 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java @@ -12,4 +12,6 @@ public interface OntologyTermRepository extends MongoRepository findByIriHash(String iriHash); Optional findByCurie(String curie); + + List findByCurieIn(List curies); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java index eab7296..5b85af7 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java @@ -27,6 +27,7 @@ import javax.validation.Valid; import javax.validation.constraints.NotEmpty; import java.util.*; +import java.util.stream.Collectors; @RestController @RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) @@ -79,26 +80,27 @@ public List getMappings(@PathVariable String projectId, @RequestPara @ResponseStatus(HttpStatus.CREATED) public MappingDto createMapping(@PathVariable String projectId, @RequestBody @Valid MappingCreationDto mappingCreationDto, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); - log.info("[{}] Request to create mapping: {} | {} | {}", user.getEmail(), projectId, mappingCreationDto.getEntityId(), mappingCreationDto.getOntologyTerm()); + log.info("[{}] Request to create mapping: {} | {} | {}", user.getEmail(), projectId, mappingCreationDto.getEntityId(), mappingCreationDto.getOntologyTerms()); projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR})); Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); Entity entity = entityService.retrieveEntity(mappingCreationDto.getEntityId()); - OntologyTerm ontologyTerm = ontologyTermService.retrieveTermByCurie(mappingCreationDto.getOntologyTerm().getCurie()); - /** * Check if a mapping to this term already exists */ Mapping existingMapping = mappingService.retrieveMappingForEntity(entity.getId()); if (existingMapping != null) { - log.warn("[{}] Mapping to term [{}] already exists.", entity.getName(), ontologyTerm.getCurie()); + log.warn("Entity [{}] already has a mapping.", entity.getName()); return MappingDtoAssembler.assemble(existingMapping); } + List curies = mappingCreationDto.getOntologyTerms().stream().map(OntologyTermDto::getCurie).collect(Collectors.toList()); + List ontologyTerms = ontologyTermService.retrieveTermByCuries(curies); + /** * Create new mapping. */ - Mapping created = mappingService.createMapping(entity, ontologyTerm, provenance); + Mapping created = mappingService.createMapping(entity, ontologyTerms, provenance); /** * Updating mapping status to MANUAL. @@ -108,7 +110,9 @@ public MappingDto createMapping(@PathVariable String projectId, @RequestBody @Va /** * Deleting mapping suggestions associated with the current ontology term. */ - mappingSuggestionsService.deleteMappingSuggestions(entity.getId(), ontologyTerm, provenance); + for (OntologyTerm ontologyTerm : ontologyTerms) { + mappingSuggestionsService.deleteMappingSuggestions(entity.getId(), ontologyTerm, provenance); + } return MappingDtoAssembler.assemble(created); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingCreationDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingCreationDto.java index da93389..c3a6431 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingCreationDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingCreationDto.java @@ -7,6 +7,7 @@ import javax.validation.constraints.NotNull; import java.io.Serializable; +import java.util.List; @EqualsAndHashCode @JsonInclude(JsonInclude.Include.NON_NULL) @@ -19,18 +20,19 @@ public final class MappingCreationDto implements Serializable { private final String entityId; @NotNull - @JsonProperty("ontologyTerm") - private final OntologyTermDto ontologyTerm; + @JsonProperty("ontologyTerms") + private final List ontologyTerms; @JsonCreator public MappingCreationDto(@JsonProperty("entityId") String entityId, - @JsonProperty("ontologyTerm") OntologyTermDto ontologyTerm) { + @JsonProperty("ontologyTerms") List ontologyTerms) { this.entityId = entityId; - this.ontologyTerm = ontologyTerm; + this.ontologyTerms = ontologyTerms; } - public OntologyTermDto getOntologyTerm() { - return ontologyTerm; + + public List getOntologyTerms() { + return ontologyTerms; } public String getEntityId() { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java index 95f57a0..333daa9 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java @@ -10,7 +10,7 @@ public interface MappingService { - Mapping createMapping(Entity entity, OntologyTerm ontologyTerm, Provenance provenance); + Mapping createMapping(Entity entity, List ontologyTerms, Provenance provenance); Map retrieveMappingsForEntities(List entityIds); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java index e040acd..023d41d 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java @@ -18,4 +18,6 @@ public interface OntologyTermService { OntologyTerm retrieveTermByCurie(String curie); OntologyTerm retrieveTermById(String ontologyTermId); + + List retrieveTermByCuries(List curies); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java index c0e4639..4751059 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java @@ -19,6 +19,7 @@ import uk.ac.ebi.spot.ontotools.curation.service.OntologyTermService; import java.util.*; +import java.util.stream.Collectors; @Service public class MappingServiceImpl implements MappingService { @@ -35,22 +36,17 @@ public class MappingServiceImpl implements MappingService { private AuditEntryService auditEntryService; @Override - public Mapping createMapping(Entity entity, OntologyTerm ontologyTerm, Provenance provenance) { - log.info("Creating mapping for entity [{}]: {}", entity.getName(), ontologyTerm.getCurie()); - Optional mappingOptional = mappingRepository.findByEntityId(entity.getId()); - if (mappingOptional.isPresent()) { - if (mappingOptional.get().getOntologyTermIds().contains(ontologyTerm.getId())) { - log.warn("Mapping for between entity [{}] and ontology term [{}] already exists: {}", entity.getName(), ontologyTerm.getCurie(), mappingOptional.get().getId()); - return mappingOptional.get(); - } - } - - Mapping created = mappingRepository.insert(new Mapping(null, entity.getId(), Arrays.asList(new String[]{ontologyTerm.getId()}), entity.getProjectId(), + public Mapping createMapping(Entity entity, List ontologyTerms, Provenance provenance) { + log.info("Creating mapping for entity [{}]: {}", entity.getName(), ontologyTerms); + List ontologyTermIds = ontologyTerms.stream().map(OntologyTerm::getId).collect(Collectors.toList()); + Mapping created = mappingRepository.insert(new Mapping(null, entity.getId(), ontologyTermIds, entity.getProjectId(), false, new ArrayList<>(), new ArrayList<>(), MappingStatus.AWAITING_REVIEW.name(), provenance, null)); - created.setOntologyTerms(Arrays.asList(new OntologyTerm[]{ontologyTerm})); + created.setOntologyTerms(ontologyTerms); - auditEntryService.addEntry(AuditEntryConstants.ADDED_MAPPING.name(), entity.getId(), provenance, Map.of(ontologyTerm.getIri(), ontologyTerm.getLabel())); - log.info("Mapping for between entity [{}] and ontology term [{}] created: {}", entity.getName(), ontologyTerm.getCurie(), created.getId()); + for (OntologyTerm ontologyTerm : ontologyTerms) { + auditEntryService.addEntry(AuditEntryConstants.ADDED_MAPPING.name(), entity.getId(), provenance, Map.of(ontologyTerm.getIri(), ontologyTerm.getLabel())); + } + log.info("Mapping for between entity [{}] and ontology term [{}] created: {}", entity.getName(), ontologyTerms, created.getId()); return created; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java index 1ceb261..559c511 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java @@ -19,10 +19,7 @@ import uk.ac.ebi.spot.ontotools.curation.service.*; import uk.ac.ebi.spot.ontotools.curation.util.CurationUtil; -import java.util.ArrayList; -import java.util.HashSet; -import java.util.List; -import java.util.Set; +import java.util.*; import java.util.stream.Stream; import static uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants.ZOOMA_CONFIDENCE_HIGH; @@ -70,6 +67,12 @@ public void runMatchmaking(String sourceId, Project project) { private void autoMap(Entity entity, Project project, User user, String batchId) { + if (entity.getMappingStatus().equals(EntityStatus.MANUALLY_MAPPED) || + entity.getMappingStatus().equals(EntityStatus.AUTO_MAPPED)) { + log.info("Entity [{}] has mapping status [{}]. Will not attempt re-mapping it.", entity.getName(), entity.getMappingStatus().name()); + return; + } + Pair projectContextInfo = CurationUtil.findContext(entity.getContext(), project); if (!projectContextInfo.getRight()) { log.error("Cannot find context [{}] for entity [{}] in project: {}", entity.getContext(), entity.getName(), project.getId()); @@ -127,16 +130,17 @@ private void autoMap(Entity entity, Project project, User user, String batchId) termsCreated.add(ontologyTerm); mappingSuggestionsService.createMappingSuggestion(entity, ontologyTerm, provenance); + if (entity.getMappingStatus().equals(EntityStatus.MANUALLY_MAPPED) || entity.getMappingStatus().equals(EntityStatus.AUTO_MAPPED)) { + continue; + } + if (highConfidenceIRIs.contains(ontologyTerm.getIri())) { - if (entity.getMappingStatus().equals(EntityStatus.UNMAPPED) || entity.getMappingStatus().equals(EntityStatus.SUGGESTIONS_PROVIDED)) { - mappingService.createMapping(entity, ontologyTerm, provenance); - entity = entityService.updateMappingStatus(entity, EntityStatus.AUTO_MAPPED); - log.info("Found high confidence mapping for [{}] in: {}", entity.getName(), ontologyTerm.getIri()); - } + mappingService.createMapping(entity, Arrays.asList(new OntologyTerm[]{ontologyTerm}), provenance); + entity = entityService.updateMappingStatus(entity, EntityStatus.AUTO_MAPPED); + log.info("Found high confidence mapping for [{}] in: {}", entity.getName(), ontologyTerm.getIri()); } else { - if (entity.getName().equalsIgnoreCase(ontologyTerm.getLabel()) && - (entity.getMappingStatus().equals(EntityStatus.UNMAPPED) || entity.getMappingStatus().equals(EntityStatus.SUGGESTIONS_PROVIDED))) { - mappingService.createMapping(entity, ontologyTerm, provenance); + if (entity.getName().equalsIgnoreCase(ontologyTerm.getLabel())) { + mappingService.createMapping(entity, Arrays.asList(new OntologyTerm[]{ontologyTerm}), provenance); entity = entityService.updateMappingStatus(entity, EntityStatus.AUTO_MAPPED); log.info("Found exact text matching for [{}] in: {}", entity.getName(), ontologyTerm.getIri()); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java index 7699be4..f7fcc45 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java @@ -137,6 +137,14 @@ public OntologyTerm retrieveTermById(String ontologyTermId) { return ontologyTermOp.get(); } + @Override + public List retrieveTermByCuries(List curies) { + log.info("Retrieving ontology terms: {}", curies); + List ontologyTerms = ontologyTermRepository.findByCurieIn(curies); + log.info("Found {} ontology terms.", ontologyTerms.size()); + return ontologyTerms; + } + private String parseStatus(List preferredOntoResponse, List parentOntoResponse, String previousState) { if (CollectionUtils.isEmpty(preferredOntoResponse) && CollectionUtils.isEmpty(parentOntoResponse)) { return TermStatus.DELETED.name(); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java index d16fc9e..6d2bfbf 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java @@ -15,7 +15,6 @@ import uk.ac.ebi.spot.ontotools.curation.rest.dto.audit.AuditEntryDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingCreationDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingDto; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingSuggestionDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.OntologyTermDto; import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; import uk.ac.ebi.spot.ontotools.curation.service.UserService; @@ -73,7 +72,7 @@ public void shouldGetMappings() throws Exception { public void shouldCreateMapping() throws Exception { OntologyTerm ontologyTerm = ontologyTermRepository.findByCurie("MONDO:0007037").get(); OntologyTermDto ontologyTermDto = OntologyTermDtoAssembler.assemble(ontologyTerm); - MappingCreationDto mappingCreationDto = new MappingCreationDto(entity.getId(), ontologyTermDto); + MappingCreationDto mappingCreationDto = new MappingCreationDto(entity.getId(), Arrays.asList(new OntologyTermDto[]{ontologyTermDto})); mappingRepository.deleteAll(); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS; @@ -254,8 +253,9 @@ public void shouldDeleteMapping() throws Exception { */ @Test public void shouldNotCreateMapping() throws Exception { + OntologyTermDto ontologyTermDto = new OntologyTermDto("MONDO:0007037", "http://purl.obolibrary.org/obo/MONDO_0007037", "Achondroplasia", TermStatus.NEEDS_IMPORT.name(), null, null); MappingCreationDto mappingCreationDto = new MappingCreationDto(entity.getId(), - new OntologyTermDto("MONDO:0007037", "http://purl.obolibrary.org/obo/MONDO_0007037", "Achondroplasia", TermStatus.NEEDS_IMPORT.name(), null, null)); + Arrays.asList(new OntologyTermDto[]{ontologyTermDto})); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS; mockMvc.perform(post(endpoint) .contentType(MediaType.APPLICATION_JSON) @@ -269,8 +269,9 @@ public void shouldNotCreateMapping() throws Exception { */ @Test public void shouldNotCreateMappingAsConsumer() throws Exception { + OntologyTermDto ontologyTermDto = new OntologyTermDto("MONDO:0007037", "http://purl.obolibrary.org/obo/MONDO_0007037", "Achondroplasia", TermStatus.NEEDS_IMPORT.name(), null, null); MappingCreationDto mappingCreationDto = new MappingCreationDto(entity.getId(), - new OntologyTermDto("MONDO:0007037", "http://purl.obolibrary.org/obo/MONDO_0007037", "Achondroplasia", TermStatus.NEEDS_IMPORT.name(), null, null)); + Arrays.asList(new OntologyTermDto[]{ontologyTermDto})); userService.addUserToProject(super.user2, project.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS; From ac9630435c32b3e08f1493733b0a4210d7808fef Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Wed, 17 Mar 2021 21:38:37 +0800 Subject: [PATCH 50/72] Changed mapping endpoints as per request. --- .../curation/constants/CurationConstants.java | 2 + .../rest/controller/MappingsController.java | 19 +++---- .../rest/dto/mapping/MappingCreationDto.java | 12 +---- .../ontotools/curation/IntegrationTest.java | 8 +-- .../MappingCommentsControllerTest.java | 12 ++--- .../MappingReviewsControllerTest.java | 21 +++----- .../curation/MappingsControllerTest.java | 50 +++++++++---------- 7 files changed, 52 insertions(+), 72 deletions(-) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java index bb31bcb..e96cdae 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java @@ -14,6 +14,8 @@ public class CurationConstants { public static final String API_MAPPINGS = "/mappings"; + public static final String API_MAPPING = "/mapping"; + public static final String API_EXPORT = "/export"; public static final String API_DOWNLOAD = "/download"; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java index 5b85af7..ac61637 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java @@ -54,12 +54,12 @@ public class MappingsController { private OntologyTermService ontologyTermService; /** - * GET /v1/projects/{projectId}/mappings?entityId= + * GET /v1/projects/{projectId}/entities/{entityId}/mapping */ - @GetMapping(value = "/{projectId}" + CurationConstants.API_MAPPINGS, + @GetMapping(value = "/{projectId}" + CurationConstants.API_ENTITIES + "/{entityId}" + CurationConstants.API_MAPPING, produces = MediaType.APPLICATION_JSON_VALUE) @ResponseStatus(HttpStatus.OK) - public List getMappings(@PathVariable String projectId, @RequestParam(value = CurationConstants.PARAM_ENTITY_ID) String entityId, HttpServletRequest request) { + public MappingDto getMapping(@PathVariable String projectId, @PathVariable String entityId, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to retrieve mappings: {} | {}", user.getEmail(), projectId, entityId); projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR, ProjectRole.CONSUMER})); @@ -68,23 +68,24 @@ public List getMappings(@PathVariable String projectId, @RequestPara if (mapping == null) { return null; } - return Arrays.asList(new MappingDto[]{MappingDtoAssembler.assemble(mapping)}); + return MappingDtoAssembler.assemble(mapping); } /** - * POST /v1/projects/{projectId}/mappings + * POST /v1/projects/{projectId}/entities/{entityId}/mapping */ - @PostMapping(value = "/{projectId}" + CurationConstants.API_MAPPINGS, + @PostMapping(value = "/{projectId}" + CurationConstants.API_ENTITIES + "/{entityId}" + CurationConstants.API_MAPPING, consumes = MediaType.APPLICATION_JSON_VALUE, produces = MediaType.APPLICATION_JSON_VALUE) @ResponseStatus(HttpStatus.CREATED) - public MappingDto createMapping(@PathVariable String projectId, @RequestBody @Valid MappingCreationDto mappingCreationDto, HttpServletRequest request) { + public MappingDto createMapping(@PathVariable String projectId, @PathVariable String entityId, + @RequestBody @Valid MappingCreationDto mappingCreationDto, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); - log.info("[{}] Request to create mapping: {} | {} | {}", user.getEmail(), projectId, mappingCreationDto.getEntityId(), mappingCreationDto.getOntologyTerms()); + log.info("[{}] Request to create mapping: {} | {} | {}", user.getEmail(), projectId, entityId, mappingCreationDto.getOntologyTerms()); projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR})); Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); - Entity entity = entityService.retrieveEntity(mappingCreationDto.getEntityId()); + Entity entity = entityService.retrieveEntity(entityId); /** * Check if a mapping to this term already exists */ diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingCreationDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingCreationDto.java index c3a6431..b4eae20 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingCreationDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingCreationDto.java @@ -15,27 +15,17 @@ public final class MappingCreationDto implements Serializable { private static final long serialVersionUID = -2530149590750902127L; - @NotNull - @JsonProperty("entityId") - private final String entityId; - @NotNull @JsonProperty("ontologyTerms") private final List ontologyTerms; @JsonCreator - public MappingCreationDto(@JsonProperty("entityId") String entityId, - @JsonProperty("ontologyTerms") List ontologyTerms) { - this.entityId = entityId; + public MappingCreationDto(@JsonProperty("ontologyTerms") List ontologyTerms) { this.ontologyTerms = ontologyTerms; } - public List getOntologyTerms() { return ontologyTerms; } - public String getEntityId() { - return entityId; - } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index 293258d..0140773 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -239,9 +239,9 @@ protected void createEntityTestData(String sourceId, String projectId, User user projectId, false, new ArrayList<>(), new ArrayList<>(), MappingStatus.AWAITING_REVIEW.name(), provenance, null)); } - protected List retrieveMapping(String projectId) throws Exception { - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectId + CurationConstants.API_MAPPINGS - + "?entityId=" + entity.getId(); + protected MappingDto retrieveMapping(String projectId) throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectId + + CurationConstants.API_ENTITIES + "/" + entity.getId() + CurationConstants.API_MAPPING; String response = mockMvc.perform(get(endpoint) .contentType(MediaType.APPLICATION_JSON) .header(IDPConstants.JWT_TOKEN, "token1")) @@ -250,7 +250,7 @@ protected List retrieveMapping(String projectId) throws Exception { .getResponse() .getContentAsString(); - List actual = mapper.readValue(response, new TypeReference<>() { + MappingDto actual = mapper.readValue(response, new TypeReference<>() { }); return actual; } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingCommentsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingCommentsControllerTest.java index abb986f..8d92142 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingCommentsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingCommentsControllerTest.java @@ -61,8 +61,7 @@ public void setup() throws Exception { */ @Test public void shouldCreateComment() throws Exception { - List actual = super.retrieveMapping(project.getId()); - MappingDto mappingDto = actual.get(0); + MappingDto mappingDto = super.retrieveMapping(project.getId()); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId() + CurationConstants.API_COMMENTS; @@ -88,8 +87,7 @@ public void shouldCreateComment() throws Exception { */ @Test public void shouldGetComments() throws Exception { - List actual = super.retrieveMapping(project.getId()); - MappingDto mappingDto = actual.get(0); + MappingDto mappingDto = super.retrieveMapping(project.getId()); mappingService.addCommentToMapping(mappingDto.getId(), "New comment", ProvenanceDtoAssembler.disassemble(mappingDto.getCreated())); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + @@ -113,8 +111,7 @@ public void shouldGetComments() throws Exception { */ @Test public void shouldNotCreateComment() throws Exception { - List actual = super.retrieveMapping(project.getId()); - MappingDto mappingDto = actual.get(0); + MappingDto mappingDto = super.retrieveMapping(project.getId()); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId() + CurationConstants.API_COMMENTS; @@ -130,8 +127,7 @@ public void shouldNotCreateComment() throws Exception { */ @Test public void shouldNotGetComments() throws Exception { - List actual = super.retrieveMapping(project.getId()); - MappingDto mappingDto = actual.get(0); + MappingDto mappingDto = super.retrieveMapping(project.getId()); mappingService.addCommentToMapping(mappingDto.getId(), "New comment", ProvenanceDtoAssembler.disassemble(mappingDto.getCreated())); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java index 180d46f..9f1541c 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java @@ -61,8 +61,7 @@ public void setup() throws Exception { */ @Test public void shouldCreateReview() throws Exception { - List actual = super.retrieveMapping(project.getId()); - MappingDto mappingDto = actual.get(0); + MappingDto mappingDto = super.retrieveMapping(project.getId()); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId() + CurationConstants.API_REVIEWS; @@ -106,8 +105,7 @@ public void shouldCreateReview() throws Exception { */ @Test public void shouldCreateReviewedMapping() throws Exception { - List actual = super.retrieveMapping(project.getId()); - MappingDto mappingDto = actual.get(0); + MappingDto mappingDto = super.retrieveMapping(project.getId()); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId() + CurationConstants.API_REVIEWS; @@ -133,8 +131,7 @@ public void shouldCreateReviewedMapping() throws Exception { */ @Test public void shouldGetReviews() throws Exception { - List actual = super.retrieveMapping(project.getId()); - MappingDto mappingDto = actual.get(0); + MappingDto mappingDto = super.retrieveMapping(project.getId()); mappingService.addReviewToMapping(mappingDto.getId(), "New review", 3, ProvenanceDtoAssembler.disassemble(mappingDto.getCreated())); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + @@ -158,8 +155,7 @@ public void shouldGetReviews() throws Exception { */ @Test public void shouldNotCreateReview() throws Exception { - List actual = super.retrieveMapping(project.getId()); - MappingDto mappingDto = actual.get(0); + MappingDto mappingDto = super.retrieveMapping(project.getId()); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId() + CurationConstants.API_REVIEWS; @@ -175,8 +171,7 @@ public void shouldNotCreateReview() throws Exception { */ @Test public void shouldNotGetReviews() throws Exception { - List actual = super.retrieveMapping(project.getId()); - MappingDto mappingDto = actual.get(0); + MappingDto mappingDto = super.retrieveMapping(project.getId()); mappingService.addReviewToMapping(mappingDto.getId(), "New review", 3, ProvenanceDtoAssembler.disassemble(mappingDto.getCreated())); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + @@ -192,8 +187,7 @@ public void shouldNotGetReviews() throws Exception { */ @Test public void shouldNotCreateReviewAsConsumer() throws Exception { - List actual = super.retrieveMapping(project.getId()); - MappingDto mappingDto = actual.get(0); + MappingDto mappingDto = super.retrieveMapping(project.getId()); userService.addUserToProject(super.user2, project.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + @@ -210,8 +204,7 @@ public void shouldNotCreateReviewAsConsumer() throws Exception { */ @Test public void shouldNotGetReviewsAsConsumer() throws Exception { - List actual = super.retrieveMapping(project.getId()); - MappingDto mappingDto = actual.get(0); + MappingDto mappingDto = super.retrieveMapping(project.getId()); mappingService.addReviewToMapping(mappingDto.getId(), "New review", 3, ProvenanceDtoAssembler.disassemble(mappingDto.getCreated())); userService.addUserToProject(super.user2, project.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java index 6d2bfbf..b3ab152 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java @@ -55,27 +55,27 @@ public void setup() throws Exception { } /** - * GET /v1/projects/{projectId}/mappings?entityId= + * GET /v1/projects/{projectId}/entities/{entityId}/mapping */ @Test public void shouldGetMappings() throws Exception { - List actual = super.retrieveMapping(project.getId()); - assertEquals(1, actual.size()); - assertEquals("Orphanet:15", actual.get(0).getOntologyTerms().get(0).getCurie()); - assertEquals(MappingStatus.AWAITING_REVIEW.name(), actual.get(0).getStatus()); + MappingDto actual = super.retrieveMapping(project.getId()); + assertEquals("Orphanet:15", actual.getOntologyTerms().get(0).getCurie()); + assertEquals(MappingStatus.AWAITING_REVIEW.name(), actual.getStatus()); } /** - * POST /v1/projects/{projectId}/mappings + * POST /v1/projects/{projectId}/entities/{entityId}/mapping */ @Test public void shouldCreateMapping() throws Exception { OntologyTerm ontologyTerm = ontologyTermRepository.findByCurie("MONDO:0007037").get(); OntologyTermDto ontologyTermDto = OntologyTermDtoAssembler.assemble(ontologyTerm); - MappingCreationDto mappingCreationDto = new MappingCreationDto(entity.getId(), Arrays.asList(new OntologyTermDto[]{ontologyTermDto})); + MappingCreationDto mappingCreationDto = new MappingCreationDto(Arrays.asList(new OntologyTermDto[]{ontologyTermDto})); mappingRepository.deleteAll(); - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS; + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_ENTITIES + "/" + entity.getId() + CurationConstants.API_MAPPING; String response = mockMvc.perform(post(endpoint) .contentType(MediaType.APPLICATION_JSON) .content(mapper.writeValueAsString(mappingCreationDto)) @@ -137,12 +137,12 @@ public void shouldCreateMapping() throws Exception { */ @Test public void shouldUpdateMapping() throws Exception { - List mappingDtos = super.retrieveMapping(project.getId()); + MappingDto mappingDto = super.retrieveMapping(project.getId()); List ontologyTermDtos = new ArrayList<>(); ontologyTermDtos.add(OntologyTermDtoAssembler.assemble(ontologyTermRepository.findByCurie("MONDO:0007037").get())); ontologyTermDtos.add(OntologyTermDtoAssembler.assemble(ontologyTermRepository.findByCurie("Orphanet:15").get())); - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + mappingDtos.get(0).getId(); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId(); String response = mockMvc.perform(put(endpoint) .contentType(MediaType.APPLICATION_JSON) .content(mapper.writeValueAsString(ontologyTermDtos)) @@ -205,9 +205,9 @@ public void shouldUpdateMapping() throws Exception { @Test public void shouldDeleteMapping() throws Exception { mappingSuggestionRepository.deleteAll(); - List actual = super.retrieveMapping(project.getId()); + MappingDto actual = super.retrieveMapping(project.getId()); - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + actual.get(0).getId(); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + actual.getId(); mockMvc.perform(delete(endpoint) .contentType(MediaType.APPLICATION_JSON) .header(IDPConstants.JWT_TOKEN, "token1")) @@ -249,14 +249,14 @@ public void shouldDeleteMapping() throws Exception { } /** - * POST /v1/projects/{projectId}/mappings + * POST /v1/projects/{projectId}/entities/{entityId}/mapping */ @Test public void shouldNotCreateMapping() throws Exception { OntologyTermDto ontologyTermDto = new OntologyTermDto("MONDO:0007037", "http://purl.obolibrary.org/obo/MONDO_0007037", "Achondroplasia", TermStatus.NEEDS_IMPORT.name(), null, null); - MappingCreationDto mappingCreationDto = new MappingCreationDto(entity.getId(), - Arrays.asList(new OntologyTermDto[]{ontologyTermDto})); - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS; + MappingCreationDto mappingCreationDto = new MappingCreationDto(Arrays.asList(new OntologyTermDto[]{ontologyTermDto})); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_ENTITIES + "/" + entity.getId() + CurationConstants.API_MAPPING; mockMvc.perform(post(endpoint) .contentType(MediaType.APPLICATION_JSON) .content(mapper.writeValueAsString(mappingCreationDto)) @@ -265,16 +265,16 @@ public void shouldNotCreateMapping() throws Exception { } /** - * POST /v1/projects/{projectId}/mappings + * POST /v1/projects/{projectId}/entities/{entityId}/mapping */ @Test public void shouldNotCreateMappingAsConsumer() throws Exception { OntologyTermDto ontologyTermDto = new OntologyTermDto("MONDO:0007037", "http://purl.obolibrary.org/obo/MONDO_0007037", "Achondroplasia", TermStatus.NEEDS_IMPORT.name(), null, null); - MappingCreationDto mappingCreationDto = new MappingCreationDto(entity.getId(), - Arrays.asList(new OntologyTermDto[]{ontologyTermDto})); + MappingCreationDto mappingCreationDto = new MappingCreationDto(Arrays.asList(new OntologyTermDto[]{ontologyTermDto})); userService.addUserToProject(super.user2, project.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS; + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_ENTITIES + "/" + entity.getId() + CurationConstants.API_MAPPING; mockMvc.perform(post(endpoint) .contentType(MediaType.APPLICATION_JSON) .content(mapper.writeValueAsString(mappingCreationDto)) @@ -287,9 +287,8 @@ public void shouldNotCreateMappingAsConsumer() throws Exception { */ @Test public void shouldNotDeleteMapping() throws Exception { - List actual = super.retrieveMapping(project.getId()); - MappingDto mappingDto = actual.get(0); - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId(); + MappingDto actual = super.retrieveMapping(project.getId()); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + actual.getId(); mockMvc.perform(delete(endpoint) .contentType(MediaType.APPLICATION_JSON) .header(IDPConstants.JWT_TOKEN, "token2")) @@ -301,11 +300,10 @@ public void shouldNotDeleteMapping() throws Exception { */ @Test public void shouldNotDeleteMappingAsConsumer() throws Exception { - List actual = super.retrieveMapping(project.getId()); - MappingDto mappingDto = actual.get(0); + MappingDto actual = super.retrieveMapping(project.getId()); userService.addUserToProject(super.user2, project.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId(); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + actual.getId(); mockMvc.perform(delete(endpoint) .contentType(MediaType.APPLICATION_JSON) .header(IDPConstants.JWT_TOKEN, "token2")) From bfe10dfc605f3022365482569188a158d606af22 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Sat, 20 Mar 2021 08:00:28 +0800 Subject: [PATCH 51/72] Reverted format for mappings endpoints. --- ...ontotools-curation-service-deployment.yaml | 2 +- .../curation/constants/CurationConstants.java | 2 -- .../rest/controller/EntityController.java | 5 ++++- .../rest/controller/MappingsController.java | 17 +++++++------- .../rest/dto/mapping/MappingCreationDto.java | 13 ++++++++++- .../impl/MappingSuggestionsServiceImpl.java | 1 + src/main/resources/application.yml | 2 +- src/main/resources/logback-spring.xml | 15 ++++++++----- .../ontotools/curation/IntegrationTest.java | 2 +- .../curation/MappingsControllerTest.java | 22 +++++++++---------- 10 files changed, 48 insertions(+), 33 deletions(-) diff --git a/scripts/config/prod/ontotools-curation-service-deployment.yaml b/scripts/config/prod/ontotools-curation-service-deployment.yaml index 840219d..c014f2b 100644 --- a/scripts/config/prod/ontotools-curation-service-deployment.yaml +++ b/scripts/config/prod/ontotools-curation-service-deployment.yaml @@ -44,7 +44,7 @@ spec: - name: LOG_FILE_NAME value: "ontotools-curation-service" - name: DB_USER - value: "" + value: "ontotoolscurator" - name: DB_PASSWORD valueFrom: secretKeyRef: diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java index e96cdae..bb31bcb 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java @@ -14,8 +14,6 @@ public class CurationConstants { public static final String API_MAPPINGS = "/mappings"; - public static final String API_MAPPING = "/mapping"; - public static final String API_EXPORT = "/export"; public static final String API_DOWNLOAD = "/download"; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java index b46ce8c..cea3d5e 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java @@ -76,13 +76,16 @@ public RestResponsePage getEntities(@PathVariable String projectId, @ List entityIds = entities.get().map(Entity::getId).collect(Collectors.toList()); Map mappings = mappingService.retrieveMappingsForEntities(entityIds); Map> mappingSuggestions = mappingSuggestionsService.retrieveMappingSuggestionsForEntities(entityIds); + log.info("Assembling results ..."); List entityDtos = new ArrayList<>(); + //auditEntryService.retrieveAuditEntries(entity.getId()) for (Entity entity : entities.getContent()) { entityDtos.add(EntityDtoAssembler.assemble(entity, sourceMap.get(entity.getSourceId()), mappings.get(entity.getId()), mappingSuggestions.get(entity.getId()), - auditEntryService.retrieveAuditEntries(entity.getId()))); + new ArrayList<>())); } + log.info("Returning results ..."); return new RestResponsePage<>(entityDtos, pageable, entities.getTotalElements()); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java index ac61637..609047b 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java @@ -54,12 +54,12 @@ public class MappingsController { private OntologyTermService ontologyTermService; /** - * GET /v1/projects/{projectId}/entities/{entityId}/mapping + * GET /v1/projects/{projectId}/mappings?entityId= */ - @GetMapping(value = "/{projectId}" + CurationConstants.API_ENTITIES + "/{entityId}" + CurationConstants.API_MAPPING, + @GetMapping(value = "/{projectId}" + CurationConstants.API_MAPPINGS, produces = MediaType.APPLICATION_JSON_VALUE) @ResponseStatus(HttpStatus.OK) - public MappingDto getMapping(@PathVariable String projectId, @PathVariable String entityId, HttpServletRequest request) { + public MappingDto getMapping(@PathVariable String projectId, @RequestParam(value = CurationConstants.PARAM_ENTITY_ID) String entityId, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to retrieve mappings: {} | {}", user.getEmail(), projectId, entityId); projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR, ProjectRole.CONSUMER})); @@ -72,20 +72,19 @@ public MappingDto getMapping(@PathVariable String projectId, @PathVariable Strin } /** - * POST /v1/projects/{projectId}/entities/{entityId}/mapping + * POST /v1/projects/{projectId}/mappings */ - @PostMapping(value = "/{projectId}" + CurationConstants.API_ENTITIES + "/{entityId}" + CurationConstants.API_MAPPING, + @PostMapping(value = "/{projectId}" + CurationConstants.API_MAPPINGS, consumes = MediaType.APPLICATION_JSON_VALUE, produces = MediaType.APPLICATION_JSON_VALUE) @ResponseStatus(HttpStatus.CREATED) - public MappingDto createMapping(@PathVariable String projectId, @PathVariable String entityId, - @RequestBody @Valid MappingCreationDto mappingCreationDto, HttpServletRequest request) { + public MappingDto createMapping(@PathVariable String projectId, @RequestBody @Valid MappingCreationDto mappingCreationDto, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); - log.info("[{}] Request to create mapping: {} | {} | {}", user.getEmail(), projectId, entityId, mappingCreationDto.getOntologyTerms()); + log.info("[{}] Request to create mapping: {} | {} | {}", user.getEmail(), projectId, mappingCreationDto.getEntityId(), mappingCreationDto.getOntologyTerms()); projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR})); Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); - Entity entity = entityService.retrieveEntity(entityId); + Entity entity = entityService.retrieveEntity(mappingCreationDto.getEntityId()); /** * Check if a mapping to this term already exists */ diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingCreationDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingCreationDto.java index b4eae20..e72698e 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingCreationDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/MappingCreationDto.java @@ -15,15 +15,26 @@ public final class MappingCreationDto implements Serializable { private static final long serialVersionUID = -2530149590750902127L; + @NotNull + @JsonProperty("entityId") + private final String entityId; + @NotNull @JsonProperty("ontologyTerms") private final List ontologyTerms; @JsonCreator - public MappingCreationDto(@JsonProperty("ontologyTerms") List ontologyTerms) { + public MappingCreationDto(@JsonProperty("entityId") String entityId, + @JsonProperty("ontologyTerms") List ontologyTerms) { + this.entityId = entityId; this.ontologyTerms = ontologyTerms; } + + public String getEntityId() { + return entityId; + } + public List getOntologyTerms() { return ontologyTerms; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java index 295df19..a5973f5 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java @@ -82,6 +82,7 @@ public Map> retrieveMappingSuggestionsForEntitie list.add(mappingSuggestion); result.put(mappingSuggestion.getEntityId(), list); } + log.info("Returning a result of size: {}", result.size()); return result; } diff --git a/src/main/resources/application.yml b/src/main/resources/application.yml index 73fa737..35ef6d0 100644 --- a/src/main/resources/application.yml +++ b/src/main/resources/application.yml @@ -75,7 +75,7 @@ spring: on-profile: "prod" data: mongodb: - uri: mongos-hx-ontotoolscuratorprors071-01.ebi.ac.uk:27017,mongos-hl-ontotoolscuratorprors071-02.ebi.ac.uk:27017/admin?replicaSet=ontotoolscuratorprors071 + uri: mongos-hx-ontotoolscuratorprors071-01.ebi.ac.uk:27017,mongos-hl-ontotoolscuratorprors071-02.ebi.ac.uk:27017/admin ontotools-curation: db: ontotoolscurator diff --git a/src/main/resources/logback-spring.xml b/src/main/resources/logback-spring.xml index d025d73..3217c75 100644 --- a/src/main/resources/logback-spring.xml +++ b/src/main/resources/logback-spring.xml @@ -51,9 +51,14 @@ + + + + @@ -104,11 +109,11 @@ - + diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index 0140773..adeed52 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -241,7 +241,7 @@ protected void createEntityTestData(String sourceId, String projectId, User user protected MappingDto retrieveMapping(String projectId) throws Exception { String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectId + - CurationConstants.API_ENTITIES + "/" + entity.getId() + CurationConstants.API_MAPPING; + CurationConstants.API_MAPPINGS + "?" + CurationConstants.PARAM_ENTITY_ID + "=" + entity.getId(); String response = mockMvc.perform(get(endpoint) .contentType(MediaType.APPLICATION_JSON) .header(IDPConstants.JWT_TOKEN, "token1")) diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java index b3ab152..ab7e403 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java @@ -55,7 +55,7 @@ public void setup() throws Exception { } /** - * GET /v1/projects/{projectId}/entities/{entityId}/mapping + * GET /v1/projects/{projectId}/mappings?entityId= */ @Test public void shouldGetMappings() throws Exception { @@ -65,17 +65,17 @@ public void shouldGetMappings() throws Exception { } /** - * POST /v1/projects/{projectId}/entities/{entityId}/mapping + * POST /v1/projects/{projectId}/mappings */ @Test public void shouldCreateMapping() throws Exception { OntologyTerm ontologyTerm = ontologyTermRepository.findByCurie("MONDO:0007037").get(); OntologyTermDto ontologyTermDto = OntologyTermDtoAssembler.assemble(ontologyTerm); - MappingCreationDto mappingCreationDto = new MappingCreationDto(Arrays.asList(new OntologyTermDto[]{ontologyTermDto})); + MappingCreationDto mappingCreationDto = new MappingCreationDto(entity.getId(), Arrays.asList(new OntologyTermDto[]{ontologyTermDto})); mappingRepository.deleteAll(); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + - CurationConstants.API_ENTITIES + "/" + entity.getId() + CurationConstants.API_MAPPING; + CurationConstants.API_MAPPINGS; String response = mockMvc.perform(post(endpoint) .contentType(MediaType.APPLICATION_JSON) .content(mapper.writeValueAsString(mappingCreationDto)) @@ -249,14 +249,13 @@ public void shouldDeleteMapping() throws Exception { } /** - * POST /v1/projects/{projectId}/entities/{entityId}/mapping + * POST /v1/projects/{projectId}/mappings */ @Test public void shouldNotCreateMapping() throws Exception { OntologyTermDto ontologyTermDto = new OntologyTermDto("MONDO:0007037", "http://purl.obolibrary.org/obo/MONDO_0007037", "Achondroplasia", TermStatus.NEEDS_IMPORT.name(), null, null); - MappingCreationDto mappingCreationDto = new MappingCreationDto(Arrays.asList(new OntologyTermDto[]{ontologyTermDto})); - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + - CurationConstants.API_ENTITIES + "/" + entity.getId() + CurationConstants.API_MAPPING; + MappingCreationDto mappingCreationDto = new MappingCreationDto(entity.getId(), Arrays.asList(new OntologyTermDto[]{ontologyTermDto})); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS; mockMvc.perform(post(endpoint) .contentType(MediaType.APPLICATION_JSON) .content(mapper.writeValueAsString(mappingCreationDto)) @@ -265,16 +264,15 @@ public void shouldNotCreateMapping() throws Exception { } /** - * POST /v1/projects/{projectId}/entities/{entityId}/mapping + * POST /v1/projects/{projectId}/mappings */ @Test public void shouldNotCreateMappingAsConsumer() throws Exception { OntologyTermDto ontologyTermDto = new OntologyTermDto("MONDO:0007037", "http://purl.obolibrary.org/obo/MONDO_0007037", "Achondroplasia", TermStatus.NEEDS_IMPORT.name(), null, null); - MappingCreationDto mappingCreationDto = new MappingCreationDto(Arrays.asList(new OntologyTermDto[]{ontologyTermDto})); + MappingCreationDto mappingCreationDto = new MappingCreationDto(entity.getId(), Arrays.asList(new OntologyTermDto[]{ontologyTermDto})); userService.addUserToProject(super.user2, project.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + - CurationConstants.API_ENTITIES + "/" + entity.getId() + CurationConstants.API_MAPPING; + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS; mockMvc.perform(post(endpoint) .contentType(MediaType.APPLICATION_JSON) .content(mapper.writeValueAsString(mappingCreationDto)) From 9615366c530fc01e3ff0d231fa297b66e76b6abf Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Sat, 20 Mar 2021 08:10:31 +0800 Subject: [PATCH 52/72] Added audit trail controller. --- .idea/compiler.xml | 22 +++ .idea/encodings.xml | 7 + .idea/inspectionProfiles/Project_Default.xml | 9 ++ ...__ch_qos_logback_logback_classic_1_2_3.xml | 13 ++ ...ven__ch_qos_logback_logback_core_1_2_3.xml | 13 ++ ...ackson_core_jackson_annotations_2_11_4.xml | 13 ++ ...erxml_jackson_core_jackson_core_2_11_4.xml | 13 ++ ...l_jackson_core_jackson_databind_2_11_4.xml | 13 ++ ..._datatype_jackson_datatype_jdk8_2_11_4.xml | 13 ++ 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...rk_boot_spring_boot_starter_json_2_4_2.xml | 13 ++ ...boot_spring_boot_starter_logging_2_4_2.xml | 13 ++ ...rk_boot_spring_boot_starter_mail_2_4_2.xml | 13 ++ ...ot_spring_boot_starter_thymeleaf_2_4_2.xml | 13 ++ ...ork_boot_spring_boot_starter_web_2_4_2.xml | 13 ++ ...gframework_boot_spring_boot_test_2_4_2.xml | 13 ++ ...amework_data_spring_data_commons_2_4_3.xml | 13 ++ ...amework_data_spring_data_mongodb_3_1_3.xml | 13 ++ ...__org_springframework_spring_aop_5_3_3.xml | 13 ++ ...org_springframework_spring_beans_5_3_3.xml | 13 ++ ...g_springframework_spring_context_5_3_3.xml | 13 ++ ...framework_spring_context_support_5_3_3.xml | 13 ++ ..._org_springframework_spring_core_5_3_3.xml | 13 ++ ...pringframework_spring_expression_5_3_3.xml | 13 ++ ...__org_springframework_spring_jcl_5_3_3.xml | 13 ++ ..._org_springframework_spring_test_5_3_3.xml | 13 ++ ...n__org_springframework_spring_tx_5_3_3.xml | 13 ++ ...__org_springframework_spring_web_5_3_3.xml | 13 ++ 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b/.idea/libraries/Maven__org_springframework_boot_spring_boot_starter_mail_2_4_2.xml @@ -0,0 +1,13 @@ + + + + + + + + + + + + + \ No newline at end of file diff --git a/.idea/libraries/Maven__org_springframework_boot_spring_boot_starter_thymeleaf_2_4_2.xml b/.idea/libraries/Maven__org_springframework_boot_spring_boot_starter_thymeleaf_2_4_2.xml new file mode 100644 index 0000000..b5c1f6d --- /dev/null +++ b/.idea/libraries/Maven__org_springframework_boot_spring_boot_starter_thymeleaf_2_4_2.xml @@ -0,0 +1,13 @@ + + + + + + + + + + + + + \ No newline at end of file diff --git a/.idea/libraries/Maven__org_springframework_boot_spring_boot_starter_web_2_4_2.xml b/.idea/libraries/Maven__org_springframework_boot_spring_boot_starter_web_2_4_2.xml new file mode 100644 index 0000000..5959aa6 --- /dev/null +++ b/.idea/libraries/Maven__org_springframework_boot_spring_boot_starter_web_2_4_2.xml @@ -0,0 +1,13 @@ + + + + + + + + + + + + + \ No newline at end of file diff --git a/.idea/libraries/Maven__org_springframework_boot_spring_boot_test_2_4_2.xml b/.idea/libraries/Maven__org_springframework_boot_spring_boot_test_2_4_2.xml new file mode 100644 index 0000000..168ac73 --- /dev/null +++ b/.idea/libraries/Maven__org_springframework_boot_spring_boot_test_2_4_2.xml @@ -0,0 +1,13 @@ + + + + + + + + + + + + + \ No newline at end of file diff --git a/.idea/libraries/Maven__org_springframework_data_spring_data_commons_2_4_3.xml b/.idea/libraries/Maven__org_springframework_data_spring_data_commons_2_4_3.xml new file mode 100644 index 0000000..0cba724 --- /dev/null +++ b/.idea/libraries/Maven__org_springframework_data_spring_data_commons_2_4_3.xml @@ -0,0 +1,13 @@ + + + + + + + + + + + + + \ No newline at end of file diff --git a/.idea/libraries/Maven__org_springframework_data_spring_data_mongodb_3_1_3.xml b/.idea/libraries/Maven__org_springframework_data_spring_data_mongodb_3_1_3.xml new file mode 100644 index 0000000..c1f44d3 --- /dev/null +++ b/.idea/libraries/Maven__org_springframework_data_spring_data_mongodb_3_1_3.xml @@ -0,0 +1,13 @@ + + + + + + + + + + + + + \ No newline at end of file diff --git a/.idea/libraries/Maven__org_springframework_spring_aop_5_3_3.xml b/.idea/libraries/Maven__org_springframework_spring_aop_5_3_3.xml new file mode 100644 index 0000000..e83a60a --- /dev/null +++ b/.idea/libraries/Maven__org_springframework_spring_aop_5_3_3.xml @@ -0,0 +1,13 @@ + + + + + + + + + + + + + \ No newline at end of file diff --git a/.idea/libraries/Maven__org_springframework_spring_beans_5_3_3.xml b/.idea/libraries/Maven__org_springframework_spring_beans_5_3_3.xml new file mode 100644 index 0000000..c8b8ba6 --- /dev/null +++ b/.idea/libraries/Maven__org_springframework_spring_beans_5_3_3.xml @@ -0,0 +1,13 @@ + + + + + + + + + + + + + \ No newline at end of file diff --git a/.idea/libraries/Maven__org_springframework_spring_context_5_3_3.xml b/.idea/libraries/Maven__org_springframework_spring_context_5_3_3.xml new file mode 100644 index 0000000..92b40c1 --- /dev/null +++ b/.idea/libraries/Maven__org_springframework_spring_context_5_3_3.xml @@ -0,0 +1,13 @@ + + + + + + + + + + + + + \ No newline at end of file diff --git a/.idea/libraries/Maven__org_springframework_spring_context_support_5_3_3.xml b/.idea/libraries/Maven__org_springframework_spring_context_support_5_3_3.xml new file mode 100644 index 0000000..bf294a7 --- /dev/null +++ b/.idea/libraries/Maven__org_springframework_spring_context_support_5_3_3.xml @@ -0,0 +1,13 @@ + + + + + + + + + + + + + \ No newline at end of file diff --git a/.idea/libraries/Maven__org_springframework_spring_core_5_3_3.xml b/.idea/libraries/Maven__org_springframework_spring_core_5_3_3.xml new file mode 100644 index 0000000..141cffc --- /dev/null +++ b/.idea/libraries/Maven__org_springframework_spring_core_5_3_3.xml @@ -0,0 +1,13 @@ + + + + + + + + + + + + + \ No newline at end of file diff --git a/.idea/libraries/Maven__org_springframework_spring_expression_5_3_3.xml b/.idea/libraries/Maven__org_springframework_spring_expression_5_3_3.xml new file mode 100644 index 0000000..c576204 --- /dev/null +++ b/.idea/libraries/Maven__org_springframework_spring_expression_5_3_3.xml @@ -0,0 +1,13 @@ + + + + + + + + + + + + + \ No newline at end of file diff --git a/.idea/libraries/Maven__org_springframework_spring_jcl_5_3_3.xml b/.idea/libraries/Maven__org_springframework_spring_jcl_5_3_3.xml new file mode 100644 index 0000000..9d1706a --- /dev/null +++ b/.idea/libraries/Maven__org_springframework_spring_jcl_5_3_3.xml @@ -0,0 +1,13 @@ + + + + + + + + + + + + + \ No newline at end of file diff --git a/.idea/libraries/Maven__org_springframework_spring_test_5_3_3.xml b/.idea/libraries/Maven__org_springframework_spring_test_5_3_3.xml new file mode 100644 index 0000000..b5118c6 --- /dev/null +++ b/.idea/libraries/Maven__org_springframework_spring_test_5_3_3.xml @@ -0,0 +1,13 @@ + + + + + + + + + + + + + \ No newline at end of file diff --git a/.idea/libraries/Maven__org_springframework_spring_tx_5_3_3.xml b/.idea/libraries/Maven__org_springframework_spring_tx_5_3_3.xml new file mode 100644 index 0000000..4180b30 --- /dev/null +++ b/.idea/libraries/Maven__org_springframework_spring_tx_5_3_3.xml @@ -0,0 +1,13 @@ + + + + + + + + + + + + + \ No newline at end of file diff --git a/.idea/libraries/Maven__org_springframework_spring_web_5_3_3.xml b/.idea/libraries/Maven__org_springframework_spring_web_5_3_3.xml new file mode 100644 index 0000000..56ff993 --- /dev/null +++ b/.idea/libraries/Maven__org_springframework_spring_web_5_3_3.xml @@ -0,0 +1,13 @@ + + + + + + + + + + + + + \ No newline at end of file diff --git a/.idea/libraries/Maven__org_springframework_spring_webmvc_5_3_3.xml b/.idea/libraries/Maven__org_springframework_spring_webmvc_5_3_3.xml new file mode 100644 index 0000000..ec00422 --- /dev/null +++ b/.idea/libraries/Maven__org_springframework_spring_webmvc_5_3_3.xml @@ -0,0 +1,13 @@ + + + + + + + + + + + + + \ No newline at end of file diff --git a/.idea/libraries/Maven__org_thymeleaf_extras_thymeleaf_extras_java8time_3_0_4_RELEASE.xml b/.idea/libraries/Maven__org_thymeleaf_extras_thymeleaf_extras_java8time_3_0_4_RELEASE.xml new file mode 100644 index 0000000..7b246ae --- /dev/null +++ b/.idea/libraries/Maven__org_thymeleaf_extras_thymeleaf_extras_java8time_3_0_4_RELEASE.xml @@ -0,0 +1,13 @@ + + + + + + + + + + + + + \ No newline at end of file diff --git a/.idea/libraries/Maven__org_thymeleaf_thymeleaf_3_0_12_RELEASE.xml b/.idea/libraries/Maven__org_thymeleaf_thymeleaf_3_0_12_RELEASE.xml new file mode 100644 index 0000000..ef303d1 --- /dev/null +++ b/.idea/libraries/Maven__org_thymeleaf_thymeleaf_3_0_12_RELEASE.xml @@ -0,0 +1,13 @@ + + + + + + + + + + + + + \ No newline at end of file diff --git a/.idea/libraries/Maven__org_thymeleaf_thymeleaf_spring5_3_0_12_RELEASE.xml b/.idea/libraries/Maven__org_thymeleaf_thymeleaf_spring5_3_0_12_RELEASE.xml new file mode 100644 index 0000000..db66650 --- /dev/null +++ b/.idea/libraries/Maven__org_thymeleaf_thymeleaf_spring5_3_0_12_RELEASE.xml @@ -0,0 +1,13 @@ + + + + + + + + + + + + + \ No newline at end of file diff --git a/.idea/libraries/Maven__org_unbescape_unbescape_1_1_6_RELEASE.xml b/.idea/libraries/Maven__org_unbescape_unbescape_1_1_6_RELEASE.xml new file mode 100644 index 0000000..2334aa0 --- /dev/null +++ b/.idea/libraries/Maven__org_unbescape_unbescape_1_1_6_RELEASE.xml @@ -0,0 +1,13 @@ + + + + + + + + + + + + + \ No newline at end of file diff --git a/.idea/libraries/Maven__org_yaml_snakeyaml_1_27.xml b/.idea/libraries/Maven__org_yaml_snakeyaml_1_27.xml new file mode 100644 index 0000000..5f4b15d --- /dev/null +++ b/.idea/libraries/Maven__org_yaml_snakeyaml_1_27.xml @@ -0,0 +1,13 @@ + + + + + + + + + + + + + \ No newline at end of file diff --git a/.idea/misc.xml b/.idea/misc.xml new file mode 100644 index 0000000..1a68899 --- /dev/null +++ b/.idea/misc.xml @@ -0,0 +1,14 @@ + + + + + + + + + \ No newline at end of file diff --git a/.idea/modules.xml b/.idea/modules.xml new file mode 100644 index 0000000..ce29380 --- /dev/null +++ b/.idea/modules.xml @@ -0,0 +1,8 @@ + + + + + + + + \ No newline at end of file diff --git a/.idea/ontotools-curator.iml b/.idea/ontotools-curator.iml new file mode 100644 index 0000000..4995b0a --- /dev/null +++ b/.idea/ontotools-curator.iml @@ -0,0 +1,136 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + \ No newline at end of file diff --git a/.idea/uiDesigner.xml b/.idea/uiDesigner.xml new file mode 100644 index 0000000..e96534f --- /dev/null +++ b/.idea/uiDesigner.xml @@ -0,0 +1,124 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + \ No newline at end of file diff --git a/.idea/vcs.xml b/.idea/vcs.xml new file mode 100644 index 0000000..35eb1dd --- /dev/null +++ b/.idea/vcs.xml @@ -0,0 +1,6 @@ + + + + + + \ No newline at end of file diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java index bb31bcb..0656722 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java @@ -20,6 +20,8 @@ public class CurationConstants { public static final String API_ENTITIES = "/entities"; + public static final String API_AUDIT_TRAIL = "/audit-trail"; + public static final String API_ONTOLOGY_TERMS = "/ontology-terms"; public static final String API_USERS = "/users"; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/AuditTrailController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/AuditTrailController.java new file mode 100644 index 0000000..7b34220 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/AuditTrailController.java @@ -0,0 +1,62 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.controller; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.http.HttpStatus; +import org.springframework.http.MediaType; +import org.springframework.web.bind.annotation.*; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; +import uk.ac.ebi.spot.ontotools.curation.domain.AuditEntry; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; +import uk.ac.ebi.spot.ontotools.curation.rest.assembler.AuditEntryDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.audit.AuditEntryDto; +import uk.ac.ebi.spot.ontotools.curation.service.AuditEntryService; +import uk.ac.ebi.spot.ontotools.curation.service.EntityService; +import uk.ac.ebi.spot.ontotools.curation.service.JWTService; +import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; +import uk.ac.ebi.spot.ontotools.curation.util.HeadersUtil; + +import javax.servlet.http.HttpServletRequest; +import java.util.Arrays; +import java.util.List; +import java.util.stream.Collectors; + +@RestController +@RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) +public class AuditTrailController { + + private static final Logger log = LoggerFactory.getLogger(ProjectsController.class); + + @Autowired + private JWTService jwtService; + + @Autowired + private ProjectService projectService; + + @Autowired + private EntityService entityService; + + @Autowired + private AuditEntryService auditEntryService; + + /** + * GET /v1/projects/{projectId}/entities/{entityId}/audit-trail + */ + @GetMapping(value = "/{projectId}" + CurationConstants.API_ENTITIES + "/{entityId}" + CurationConstants.API_AUDIT_TRAIL, + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.OK) + public List getEntities(@PathVariable String projectId, + @PathVariable String entityId, + HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to retrieve audit trail for entity: {} | {}", user.getEmail(), projectId, entityId); + projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR, ProjectRole.CONSUMER})); + Entity entity = entityService.retrieveEntity(entityId); + List auditTrail = auditEntryService.retrieveAuditEntries(entity.getId()); + return auditTrail.stream().map(AuditEntryDtoAssembler::assemble).collect(Collectors.toList()); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java index cea3d5e..8b313d3 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java @@ -78,7 +78,6 @@ public RestResponsePage getEntities(@PathVariable String projectId, @ Map> mappingSuggestions = mappingSuggestionsService.retrieveMappingSuggestionsForEntities(entityIds); log.info("Assembling results ..."); List entityDtos = new ArrayList<>(); - //auditEntryService.retrieveAuditEntries(entity.getId()) for (Entity entity : entities.getContent()) { entityDtos.add(EntityDtoAssembler.assemble(entity, sourceMap.get(entity.getSourceId()), mappings.get(entity.getId()), diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/AuditTrailControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/AuditTrailControllerTest.java new file mode 100644 index 0000000..7947a8f --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/AuditTrailControllerTest.java @@ -0,0 +1,70 @@ +package uk.ac.ebi.spot.ontotools.curation; + +import com.fasterxml.jackson.core.type.TypeReference; +import org.junit.Test; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.http.MediaType; +import org.springframework.test.context.ContextConfiguration; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.audit.AuditEntryDto; +import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; +import uk.ac.ebi.spot.ontotools.curation.service.UserService; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; + +import java.util.Arrays; +import java.util.List; + +import static org.junit.Assert.assertTrue; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.get; +import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; + +@ContextConfiguration(classes = {IntegrationTest.MockTaskExecutorConfig.class}) +public class AuditTrailControllerTest extends IntegrationTest { + + @Autowired + private UserService userService; + + @Autowired + private ProjectService projectService; + + private Project project; + + private SourceDto sourceDto; + + @Override + public void setup() throws Exception { + super.setup(); + List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); + List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); + ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo", 0); + user1 = userService.findByEmail(user1.getEmail()); + project = projectService.retrieveProject(projectDto.getId(), user1); + sourceDto = super.createSource(project.getId()); + + super.createEntityTestData(sourceDto.getId(), project.getId(), user1); + } + + /** + * GET /v1/projects/{projectId}/entities/{entityId}/audit-trail + */ + @Test + public void shouldGetEntity() throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_ENTITIES + "/" + entity.getId() + CurationConstants.API_AUDIT_TRAIL; + String response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + List actual = mapper.readValue(response, new TypeReference<>() { + }); + assertTrue(actual.isEmpty()); + } +} From d371042d87ae9c8a12c25f64803e5c5a7056d9d2 Mon Sep 17 00:00:00 2001 From: tudorgroza Date: Sat, 20 Mar 2021 09:10:47 +0800 Subject: [PATCH 53/72] Revert "Added audit trail controller." --- .idea/compiler.xml | 22 --- .idea/encodings.xml | 7 - .idea/inspectionProfiles/Project_Default.xml | 9 -- ...__ch_qos_logback_logback_classic_1_2_3.xml | 13 -- ...ven__ch_qos_logback_logback_core_1_2_3.xml | 13 -- ...ackson_core_jackson_annotations_2_11_4.xml | 13 -- ...erxml_jackson_core_jackson_core_2_11_4.xml | 13 -- ...l_jackson_core_jackson_databind_2_11_4.xml | 13 -- ..._datatype_jackson_datatype_jdk8_2_11_4.xml | 13 -- ...atatype_jackson_datatype_jsr310_2_11_4.xml | 13 -- ..._jackson_module_parameter_names_2_11_4.xml | 13 -- 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b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java @@ -20,8 +20,6 @@ public class CurationConstants { public static final String API_ENTITIES = "/entities"; - public static final String API_AUDIT_TRAIL = "/audit-trail"; - public static final String API_ONTOLOGY_TERMS = "/ontology-terms"; public static final String API_USERS = "/users"; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/AuditTrailController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/AuditTrailController.java deleted file mode 100644 index 7b34220..0000000 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/AuditTrailController.java +++ /dev/null @@ -1,62 +0,0 @@ -package uk.ac.ebi.spot.ontotools.curation.rest.controller; - -import org.slf4j.Logger; -import org.slf4j.LoggerFactory; -import org.springframework.beans.factory.annotation.Autowired; -import org.springframework.http.HttpStatus; -import org.springframework.http.MediaType; -import org.springframework.web.bind.annotation.*; -import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; -import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; -import uk.ac.ebi.spot.ontotools.curation.domain.AuditEntry; -import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; -import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; -import uk.ac.ebi.spot.ontotools.curation.rest.assembler.AuditEntryDtoAssembler; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.audit.AuditEntryDto; -import uk.ac.ebi.spot.ontotools.curation.service.AuditEntryService; -import uk.ac.ebi.spot.ontotools.curation.service.EntityService; -import uk.ac.ebi.spot.ontotools.curation.service.JWTService; -import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; -import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; -import uk.ac.ebi.spot.ontotools.curation.util.HeadersUtil; - -import javax.servlet.http.HttpServletRequest; -import java.util.Arrays; -import java.util.List; -import java.util.stream.Collectors; - -@RestController -@RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) -public class AuditTrailController { - - private static final Logger log = LoggerFactory.getLogger(ProjectsController.class); - - @Autowired - private JWTService jwtService; - - @Autowired - private ProjectService projectService; - - @Autowired - private EntityService entityService; - - @Autowired - private AuditEntryService auditEntryService; - - /** - * GET /v1/projects/{projectId}/entities/{entityId}/audit-trail - */ - @GetMapping(value = "/{projectId}" + CurationConstants.API_ENTITIES + "/{entityId}" + CurationConstants.API_AUDIT_TRAIL, - produces = MediaType.APPLICATION_JSON_VALUE) - @ResponseStatus(HttpStatus.OK) - public List getEntities(@PathVariable String projectId, - @PathVariable String entityId, - HttpServletRequest request) { - User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); - log.info("[{}] Request to retrieve audit trail for entity: {} | {}", user.getEmail(), projectId, entityId); - projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR, ProjectRole.CONSUMER})); - Entity entity = entityService.retrieveEntity(entityId); - List auditTrail = auditEntryService.retrieveAuditEntries(entity.getId()); - return auditTrail.stream().map(AuditEntryDtoAssembler::assemble).collect(Collectors.toList()); - } -} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java index 8b313d3..cea3d5e 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java @@ -78,6 +78,7 @@ public RestResponsePage getEntities(@PathVariable String projectId, @ Map> mappingSuggestions = mappingSuggestionsService.retrieveMappingSuggestionsForEntities(entityIds); log.info("Assembling results ..."); List entityDtos = new ArrayList<>(); + //auditEntryService.retrieveAuditEntries(entity.getId()) for (Entity entity : entities.getContent()) { entityDtos.add(EntityDtoAssembler.assemble(entity, sourceMap.get(entity.getSourceId()), mappings.get(entity.getId()), diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/AuditTrailControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/AuditTrailControllerTest.java deleted file mode 100644 index 7947a8f..0000000 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/AuditTrailControllerTest.java +++ /dev/null @@ -1,70 +0,0 @@ -package uk.ac.ebi.spot.ontotools.curation; - -import com.fasterxml.jackson.core.type.TypeReference; -import org.junit.Test; -import org.springframework.beans.factory.annotation.Autowired; -import org.springframework.http.MediaType; -import org.springframework.test.context.ContextConfiguration; -import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; -import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; -import uk.ac.ebi.spot.ontotools.curation.domain.Project; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.audit.AuditEntryDto; -import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; -import uk.ac.ebi.spot.ontotools.curation.service.UserService; -import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; - -import java.util.Arrays; -import java.util.List; - -import static org.junit.Assert.assertTrue; -import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.get; -import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; - -@ContextConfiguration(classes = {IntegrationTest.MockTaskExecutorConfig.class}) -public class AuditTrailControllerTest extends IntegrationTest { - - @Autowired - private UserService userService; - - @Autowired - private ProjectService projectService; - - private Project project; - - private SourceDto sourceDto; - - @Override - public void setup() throws Exception { - super.setup(); - List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); - List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); - ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo", 0); - user1 = userService.findByEmail(user1.getEmail()); - project = projectService.retrieveProject(projectDto.getId(), user1); - sourceDto = super.createSource(project.getId()); - - super.createEntityTestData(sourceDto.getId(), project.getId(), user1); - } - - /** - * GET /v1/projects/{projectId}/entities/{entityId}/audit-trail - */ - @Test - public void shouldGetEntity() throws Exception { - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + - CurationConstants.API_ENTITIES + "/" + entity.getId() + CurationConstants.API_AUDIT_TRAIL; - String response = mockMvc.perform(get(endpoint) - .contentType(MediaType.APPLICATION_JSON) - .header(IDPConstants.JWT_TOKEN, "token1")) - .andExpect(status().isOk()) - .andReturn() - .getResponse() - .getContentAsString(); - - List actual = mapper.readValue(response, new TypeReference<>() { - }); - assertTrue(actual.isEmpty()); - } -} From 30e5d706ce0d6cb7cf32af922f45a78f9eab364b Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Sat, 20 Mar 2021 09:22:47 +0800 Subject: [PATCH 54/72] Added audit trail on entities. --- .../curation/constants/CurationConstants.java | 2 + .../rest/controller/AuditTrailController.java | 62 ++++++++++++++++ .../curation/AuditTrailControllerTest.java | 70 +++++++++++++++++++ 3 files changed, 134 insertions(+) create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/AuditTrailController.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/AuditTrailControllerTest.java diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java index bb31bcb..6fdfac3 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java @@ -22,6 +22,8 @@ public class CurationConstants { public static final String API_ONTOLOGY_TERMS = "/ontology-terms"; + public static final String API_AUDIT_TRAIL = "/audit-trail"; + public static final String API_USERS = "/users"; public static final String API_REVIEWS = "/reviews"; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/AuditTrailController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/AuditTrailController.java new file mode 100644 index 0000000..7b34220 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/AuditTrailController.java @@ -0,0 +1,62 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.controller; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.http.HttpStatus; +import org.springframework.http.MediaType; +import org.springframework.web.bind.annotation.*; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; +import uk.ac.ebi.spot.ontotools.curation.domain.AuditEntry; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; +import uk.ac.ebi.spot.ontotools.curation.rest.assembler.AuditEntryDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.audit.AuditEntryDto; +import uk.ac.ebi.spot.ontotools.curation.service.AuditEntryService; +import uk.ac.ebi.spot.ontotools.curation.service.EntityService; +import uk.ac.ebi.spot.ontotools.curation.service.JWTService; +import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; +import uk.ac.ebi.spot.ontotools.curation.util.HeadersUtil; + +import javax.servlet.http.HttpServletRequest; +import java.util.Arrays; +import java.util.List; +import java.util.stream.Collectors; + +@RestController +@RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) +public class AuditTrailController { + + private static final Logger log = LoggerFactory.getLogger(ProjectsController.class); + + @Autowired + private JWTService jwtService; + + @Autowired + private ProjectService projectService; + + @Autowired + private EntityService entityService; + + @Autowired + private AuditEntryService auditEntryService; + + /** + * GET /v1/projects/{projectId}/entities/{entityId}/audit-trail + */ + @GetMapping(value = "/{projectId}" + CurationConstants.API_ENTITIES + "/{entityId}" + CurationConstants.API_AUDIT_TRAIL, + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.OK) + public List getEntities(@PathVariable String projectId, + @PathVariable String entityId, + HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to retrieve audit trail for entity: {} | {}", user.getEmail(), projectId, entityId); + projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR, ProjectRole.CONSUMER})); + Entity entity = entityService.retrieveEntity(entityId); + List auditTrail = auditEntryService.retrieveAuditEntries(entity.getId()); + return auditTrail.stream().map(AuditEntryDtoAssembler::assemble).collect(Collectors.toList()); + } +} diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/AuditTrailControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/AuditTrailControllerTest.java new file mode 100644 index 0000000..7947a8f --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/AuditTrailControllerTest.java @@ -0,0 +1,70 @@ +package uk.ac.ebi.spot.ontotools.curation; + +import com.fasterxml.jackson.core.type.TypeReference; +import org.junit.Test; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.http.MediaType; +import org.springframework.test.context.ContextConfiguration; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.audit.AuditEntryDto; +import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; +import uk.ac.ebi.spot.ontotools.curation.service.UserService; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; + +import java.util.Arrays; +import java.util.List; + +import static org.junit.Assert.assertTrue; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.get; +import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; + +@ContextConfiguration(classes = {IntegrationTest.MockTaskExecutorConfig.class}) +public class AuditTrailControllerTest extends IntegrationTest { + + @Autowired + private UserService userService; + + @Autowired + private ProjectService projectService; + + private Project project; + + private SourceDto sourceDto; + + @Override + public void setup() throws Exception { + super.setup(); + List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); + List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); + ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo", 0); + user1 = userService.findByEmail(user1.getEmail()); + project = projectService.retrieveProject(projectDto.getId(), user1); + sourceDto = super.createSource(project.getId()); + + super.createEntityTestData(sourceDto.getId(), project.getId(), user1); + } + + /** + * GET /v1/projects/{projectId}/entities/{entityId}/audit-trail + */ + @Test + public void shouldGetEntity() throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + + CurationConstants.API_ENTITIES + "/" + entity.getId() + CurationConstants.API_AUDIT_TRAIL; + String response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + List actual = mapper.readValue(response, new TypeReference<>() { + }); + assertTrue(actual.isEmpty()); + } +} From 2dc2b8d7ae6e024e3676ade34d650d1baeb37d59 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Mon, 22 Mar 2021 20:25:54 +0800 Subject: [PATCH 55/72] Fixed payload on PUT mappings. --- .../curation/rest/controller/MappingsController.java | 6 +++--- .../ontotools/curation/MappingsControllerTest.java | 11 ++++++++++- 2 files changed, 13 insertions(+), 4 deletions(-) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java index 609047b..a7c570c 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java @@ -123,15 +123,15 @@ public MappingDto createMapping(@PathVariable String projectId, @RequestBody @Va consumes = MediaType.APPLICATION_JSON_VALUE, produces = MediaType.APPLICATION_JSON_VALUE) @ResponseStatus(HttpStatus.OK) - public MappingDto updateMapping(@PathVariable String projectId, @PathVariable String mappingId, @RequestBody @NotEmpty @Valid List ontologyTermsDtos, HttpServletRequest request) { + public MappingDto updateMapping(@PathVariable String projectId, @PathVariable String mappingId, @RequestBody @NotEmpty @Valid MappingDto mappingDto, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); - log.info("[{}] Request to update mapping [{} | {}]: {}", user.getEmail(), projectId, mappingId, ontologyTermsDtos); + log.info("[{}] Request to update mapping [{} | {}]: {}", user.getEmail(), projectId, mappingId, mappingDto.getOntologyTerms()); projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR})); Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); Map ontologyTermMap = new LinkedHashMap<>(); List ontologyTerms = new ArrayList<>(); - for (OntologyTermDto ontologyTermDto : ontologyTermsDtos) { + for (OntologyTermDto ontologyTermDto : mappingDto.getOntologyTerms()) { OntologyTerm ontologyTerm = ontologyTermService.retrieveTermByCurie(ontologyTermDto.getCurie()); ontologyTermMap.put(ontologyTerm.getId(), ontologyTerm); ontologyTerms.add(ontologyTerm); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java index ab7e403..8e2014d 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java @@ -142,10 +142,19 @@ public void shouldUpdateMapping() throws Exception { ontologyTermDtos.add(OntologyTermDtoAssembler.assemble(ontologyTermRepository.findByCurie("MONDO:0007037").get())); ontologyTermDtos.add(OntologyTermDtoAssembler.assemble(ontologyTermRepository.findByCurie("Orphanet:15").get())); + MappingDto updated = new MappingDto(mappingDto.getId(), + mappingDto.getEntityId(), + ontologyTermDtos, + mappingDto.isReviewed(), + mappingDto.getStatus(), + mappingDto.getReviews(), + mappingDto.getComments(), + mappingDto.getCreated()); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_MAPPINGS + "/" + mappingDto.getId(); String response = mockMvc.perform(put(endpoint) .contentType(MediaType.APPLICATION_JSON) - .content(mapper.writeValueAsString(ontologyTermDtos)) + .content(mapper.writeValueAsString(updated)) .header(IDPConstants.JWT_TOKEN, "token1")) .andExpect(status().isOk()) .andReturn() From 1e5e20a32aa5549fa820b2c074a7b3513f2d9d20 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Mon, 22 Mar 2021 21:04:41 +0800 Subject: [PATCH 56/72] Added back suggestions on creating a mapping. --- .../rest/controller/MappingsController.java | 23 +------- .../curation/MappingsControllerTest.java | 59 ++++++++++--------- 2 files changed, 33 insertions(+), 49 deletions(-) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java index a7c570c..d23dd64 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java @@ -105,14 +105,8 @@ public MappingDto createMapping(@PathVariable String projectId, @RequestBody @Va /** * Updating mapping status to MANUAL. */ - entity = entityService.updateMappingStatus(entity, EntityStatus.MANUALLY_MAPPED); + entityService.updateMappingStatus(entity, EntityStatus.MANUALLY_MAPPED); - /** - * Deleting mapping suggestions associated with the current ontology term. - */ - for (OntologyTerm ontologyTerm : ontologyTerms) { - mappingSuggestionsService.deleteMappingSuggestions(entity.getId(), ontologyTerm, provenance); - } return MappingDtoAssembler.assemble(created); } @@ -151,20 +145,7 @@ public MappingDto updateMapping(@PathVariable String projectId, @PathVariable St * Updating mapping status to MANUAL. */ Entity entity = entityService.retrieveEntity(updated.getEntityId()); - entity = entityService.updateMappingStatus(entity, EntityStatus.MANUALLY_MAPPED); - - /** - * Deleting mapping suggestions associated with the new ontology terms - */ - for (String oId : ontologyTermMap.keySet()) { - mappingSuggestionsService.deleteMappingSuggestions(entity.getId(), ontologyTermMap.get(oId), provenance); - } - /** - * Create mapping suggestions associated with the old ontology terms - */ - for (OntologyTerm ontologyTerm : old) { - mappingSuggestionsService.createMappingSuggestion(entity, ontologyTerm, provenance); - } + entityService.updateMappingStatus(entity, EntityStatus.MANUALLY_MAPPED); updated.setOntologyTerms(ontologyTerms); return MappingDtoAssembler.assemble(updated); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java index 8e2014d..4ea3fdf 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java @@ -13,8 +13,10 @@ import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.audit.AuditEntryDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.audit.MetadataEntryDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingCreationDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingSuggestionDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.OntologyTermDto; import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; import uk.ac.ebi.spot.ontotools.curation.service.UserService; @@ -112,24 +114,21 @@ public void shouldCreateMapping() throws Exception { assertEquals("Achondroplasia", actualEntity.getMapping().getOntologyTerms().get(0).getLabel()); assertEquals("MONDO:0007037", actualEntity.getMapping().getOntologyTerms().get(0).getCurie()); - assertEquals(1, actualEntity.getMappingSuggestions().size()); - assertEquals("Orphanet:15", actualEntity.getMappingSuggestions().get(0).getOntologyTerm().getCurie()); + assertEquals(2, actualEntity.getMappingSuggestions().size()); + List curies = new ArrayList<>(); + for (MappingSuggestionDto mappingSuggestionDto : actualEntity.getMappingSuggestions()) { + curies.add(mappingSuggestionDto.getOntologyTerm().getCurie()); + } + assertTrue(curies.contains("Orphanet:15")); + assertTrue(curies.contains("MONDO:0007037")); assertEquals(sourceDto.getId(), actualEntity.getSource().getId()); - assertEquals(2, actualEntity.getAuditTrail().size()); - for (AuditEntryDto auditEntryDto : actualEntity.getAuditTrail()) { - assertTrue(auditEntryDto.getAction().equalsIgnoreCase(AuditEntryConstants.ADDED_MAPPING.name()) || - auditEntryDto.getAction().equalsIgnoreCase(AuditEntryConstants.REMOVED_SUGGESTION.name())); - if (auditEntryDto.getAction().equalsIgnoreCase(AuditEntryConstants.REMOVED_SUGGESTION.name())) { - assertEquals(1, auditEntryDto.getMetadata().size()); - assertEquals("http://purl.obolibrary.org/obo/MONDO_0007037", auditEntryDto.getMetadata().get(0).getKey()); - } - if (auditEntryDto.getAction().equalsIgnoreCase(AuditEntryConstants.ADDED_MAPPING.name())) { - assertEquals(1, auditEntryDto.getMetadata().size()); - assertEquals("http://purl.obolibrary.org/obo/MONDO_0007037", auditEntryDto.getMetadata().get(0).getKey()); - } - } + assertEquals(1, actualEntity.getAuditTrail().size()); + AuditEntryDto auditEntryDto = actualEntity.getAuditTrail().get(0); + assertTrue(auditEntryDto.getAction().equalsIgnoreCase(AuditEntryConstants.ADDED_MAPPING.name())); + assertEquals(1, auditEntryDto.getMetadata().size()); + assertEquals("http://purl.obolibrary.org/obo/MONDO_0007037", auditEntryDto.getMetadata().get(0).getKey()); } /** @@ -190,22 +189,26 @@ public void shouldUpdateMapping() throws Exception { assertNotNull(actualEntity.getMapping()); assertEquals(2, actualEntity.getMapping().getOntologyTerms().size()); - assertEquals(0, actualEntity.getMappingSuggestions().size()); - assertEquals(3, actualEntity.getAuditTrail().size()); + assertEquals(2, actualEntity.getMappingSuggestions().size()); + curies = new ArrayList<>(); + for (MappingSuggestionDto mappingSuggestionDto : actualEntity.getMappingSuggestions()) { + curies.add(mappingSuggestionDto.getOntologyTerm().getCurie()); + } + assertTrue(curies.contains("Orphanet:15")); + assertTrue(curies.contains("MONDO:0007037")); - int noRemovedSuggestions = 0; - int noUpdatedMapping = 0; - for (AuditEntryDto auditEntryDto : actualEntity.getAuditTrail()) { - if (auditEntryDto.getAction().equalsIgnoreCase(AuditEntryConstants.UPDATED_MAPPING.name())) { - noUpdatedMapping++; - } - if (auditEntryDto.getAction().equalsIgnoreCase(AuditEntryConstants.REMOVED_SUGGESTION.name())) { - noRemovedSuggestions++; - } + assertEquals(1, actualEntity.getAuditTrail().size()); + AuditEntryDto auditEntryDto = actualEntity.getAuditTrail().get(0); + assertTrue(auditEntryDto.getAction().equalsIgnoreCase(AuditEntryConstants.UPDATED_MAPPING.name())); + assertEquals(2, auditEntryDto.getMetadata().size()); + + curies = new ArrayList<>(); + for (MetadataEntryDto metadataEntryDto : auditEntryDto.getMetadata()) { + curies.add(metadataEntryDto.getKey()); } - assertEquals(2, noRemovedSuggestions); - assertEquals(1, noUpdatedMapping); + assertTrue(curies.contains("MONDO:0007037")); + assertTrue(curies.contains("Orphanet:15")); } /** From 2c4e56dcc204b06f39d0f2d207cc57a8c85e3ab0 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Tue, 23 Mar 2021 15:27:24 +0800 Subject: [PATCH 57/72] Fixed user management bug. --- .../service/impl/UserServiceImpl.java | 48 ++++++++++--------- 1 file changed, 25 insertions(+), 23 deletions(-) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/UserServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/UserServiceImpl.java index ef994fd..500803f 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/UserServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/UserServiceImpl.java @@ -67,23 +67,23 @@ public User findRandomSuperUser() { } @Override - public User addUserToProject(User user, String projectId, List roles) { - log.info("Adding project [{}] to user [{}] with roles: {}", projectId, user.getName(), roles); - if (user.getRoles() == null) { - user.setRoles(new ArrayList<>()); + public User addUserToProject(User targetUser, String projectId, List roles) { + User existing = this.findByEmail(targetUser.getEmail()); + log.info("Adding project [{}] to user [{}] with roles: {}", projectId, existing.getName(), roles); + if (existing.getRoles() == null) { + existing.setRoles(new ArrayList<>()); } List existingRoles = new ArrayList<>(); List toRemove = new ArrayList<>(); - for (Role role : user.getRoles()) { + for (Role role : existing.getRoles()) { if (role.getProjectId().equalsIgnoreCase(projectId)) { existingRoles.add(role.getRole()); toRemove.add(role); } } for (Role role : toRemove) { - user.getRoles().remove(role); + existing.getRoles().remove(role); } - for (ProjectRole projectRole : roles) { if (!existingRoles.contains(projectRole)) { existingRoles.add(projectRole); @@ -91,28 +91,29 @@ public User addUserToProject(User user, String projectId, List role } for (ProjectRole projectRole : existingRoles) { - user.getRoles().add(new Role(projectId, projectRole)); + existing.getRoles().add(new Role(projectId, projectRole)); } - return userRepository.save(user); + return userRepository.save(existing); } @Override - public User updateUserRoles(User user, String projectId, List projectRoles) { - log.info("Updating roles for user [{}] in project: {}", user.getEmail(), projectId); + public User updateUserRoles(User targetUser, String projectId, List projectRoles) { + User existing = this.findByEmail(targetUser.getEmail()); + log.info("Updating roles for user [{}] in project: {}", existing.getEmail(), projectId); List toRemove = new ArrayList<>(); - for (Role role : user.getRoles()) { + for (Role role : existing.getRoles()) { if (role.getProjectId().equalsIgnoreCase(projectId)) { toRemove.add(role); } } for (Role role : toRemove) { - user.getRoles().remove(role); + existing.getRoles().remove(role); } for (ProjectRole projectRole : projectRoles) { - user.getRoles().add(new Role(projectId, projectRole)); + existing.getRoles().add(new Role(projectId, projectRole)); } - return userRepository.save(user); + return userRepository.save(existing); } @Override @@ -129,24 +130,25 @@ public User findById(String userId) { } @Override - public void removeProjectFromUser(User user, String projectId) { - log.info("Removing project [{}] from user: {}", projectId, user.getName()); - if (user.getRoles() == null) { - user.setRoles(new ArrayList<>()); + public void removeProjectFromUser(User targetUser, String projectId) { + User existing = this.findByEmail(targetUser.getEmail()); + log.info("Removing project [{}] from user: {}", projectId, existing.getName()); + if (existing.getRoles() == null) { + existing.setRoles(new ArrayList<>()); } Role found = null; - for (Role role : user.getRoles()) { + for (Role role : existing.getRoles()) { if (role.getProjectId().equals(projectId)) { found = role; break; } } if (found != null) { - user.getRoles().remove(found); - userRepository.save(user); + existing.getRoles().remove(found); + userRepository.save(existing); } else { - log.warn("Unable to find project [{}] associated with user: {}", projectId, user.getName()); + log.warn("Unable to find project [{}] associated with user: {}", projectId, existing.getName()); } } From 7631892d92ee7b076fdd6f1a3497ed928e3fb9dd Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Tue, 23 Mar 2021 20:53:12 +0800 Subject: [PATCH 58/72] Added OLS Search endpoint. --- .../config/RestInteractionConfig.java | 7 ++ .../curation/constants/CurationConstants.java | 4 ++ .../constants/RestInteractionConstants.java | 2 + .../controller/ProjectsUtilController.java | 45 +++++++++++++ .../curation/rest/dto/ols/OLSQueryDocDto.java | 66 +++++++++++++++++++ .../rest/dto/ols/OLSQueryResponseDto.java | 29 ++++++++ .../dto/ols/OLSQueryResponseEntryDto.java | 48 ++++++++++++++ .../curation/service/OLSService.java | 3 + .../curation/service/impl/OLSServiceImpl.java | 30 ++++++++- src/main/resources/application.yml | 1 + .../ontotools/curation/OLSServiceTest.java | 17 ++++- .../curation/ProjectsUtilControllerTest.java | 46 +++++++++++++ .../rest/dto/ols/OLSQueryDocDtoTest.java | 13 ++++ .../rest/dto/ols/OLSQueryResponseDtoTest.java | 13 ++++ .../dto/ols/OLSQueryResponseEntryDtoTest.java | 13 ++++ 15 files changed, 334 insertions(+), 3 deletions(-) create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsUtilController.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSQueryDocDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSQueryResponseDto.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSQueryResponseEntryDto.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsUtilControllerTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSQueryDocDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSQueryResponseDtoTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSQueryResponseEntryDtoTest.java diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/RestInteractionConfig.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/RestInteractionConfig.java index 275c022..05ad723 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/RestInteractionConfig.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/RestInteractionConfig.java @@ -25,6 +25,9 @@ public class RestInteractionConfig { @Value("${ontotools.ols.endpoints.ontologies}") private String olsOntologiesEndpoint; + @Value("${ontotools.ols.endpoints.search}") + private String olsSearchEndpoint; + @Value("${server.name}") private String serverName; @@ -55,4 +58,8 @@ public String getOlsBase() { public String getOlsOntologiesEndpoint() { return olsBase + olsOntologiesEndpoint; } + + public String getOlsSearchEndpoint() { + return olsBase + olsSearchEndpoint; + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java index 6fdfac3..8a87a95 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java @@ -30,8 +30,12 @@ public class CurationConstants { public static final String API_COMMENTS = "/comments"; + public static final String API_SEARCH_OLS = "/searchOLS"; + public static final String PARAM_ENTITY_ID = "entityId"; + public static final String PARAM_QUERY = "query"; + public static final String ZOOMA_CONFIDENCE_HIGH = "HIGH"; public static final String CONTEXT_DEFAULT = "DEFAULT"; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/RestInteractionConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/RestInteractionConstants.java index 99b236e..1d2b624 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/RestInteractionConstants.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/RestInteractionConstants.java @@ -18,6 +18,8 @@ public class RestInteractionConstants { public static final String OLS_IDTYPE_IRI = "iri"; + public static final String OLS_PARAM_Q = "q"; + public static String zoomaFilterValueFromList(List datasources, List ontologies) { if (datasources != null && !datasources.isEmpty()) { return ZOOMA_FILTER_VALUE_REQUIRED + ":[" + StringUtils.join(datasources, ",") + "]"; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsUtilController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsUtilController.java new file mode 100644 index 0000000..d7fc19b --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsUtilController.java @@ -0,0 +1,45 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.controller; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.http.HttpStatus; +import org.springframework.http.MediaType; +import org.springframework.web.bind.annotation.*; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSQueryDocDto; +import uk.ac.ebi.spot.ontotools.curation.service.JWTService; +import uk.ac.ebi.spot.ontotools.curation.service.OLSService; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; +import uk.ac.ebi.spot.ontotools.curation.util.HeadersUtil; + +import javax.servlet.http.HttpServletRequest; +import java.util.List; + +@RestController +@RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) +public class ProjectsUtilController { + + private static final Logger log = LoggerFactory.getLogger(ProjectsController.class); + + @Autowired + private JWTService jwtService; + + @Autowired + private OLSService olsService; + + /** + * GET /v1/projects/{projectId}/searchOLS?query= + */ + @GetMapping(value = "/{projectId}" + CurationConstants.API_SEARCH_OLS, + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.OK) + public List getProject(@PathVariable String projectId, + @RequestParam(value = CurationConstants.PARAM_QUERY) String query, + HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to query OLS [{}]: {}", user.getEmail(), projectId, query); + return olsService.query(query); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSQueryDocDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSQueryDocDto.java new file mode 100644 index 0000000..23fa95e --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSQueryDocDto.java @@ -0,0 +1,66 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.ols; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonIgnoreProperties; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import java.io.Serializable; +import java.util.List; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +@JsonIgnoreProperties(ignoreUnknown = true) +public final class OLSQueryDocDto implements Serializable { + + private static final long serialVersionUID = -1340048985906827319L; + + @JsonProperty("iri") + private final String iri; + + @JsonProperty("obo_id") + private final String curie; + + @JsonProperty("label") + private final String label; + + @JsonProperty("description") + private final List description; + + @JsonProperty("ontology_name") + private final String ontologyName; + + @JsonCreator + public OLSQueryDocDto(@JsonProperty("iri") String iri, + @JsonProperty("obo_id") String curie, + @JsonProperty("label") String label, + @JsonProperty("description") List description, + @JsonProperty("ontology_name") String ontologyName) { + this.iri = iri; + this.curie = curie; + this.label = label; + this.description = description; + this.ontologyName = ontologyName; + } + + public String getIri() { + return iri; + } + + public String getCurie() { + return curie; + } + + public String getLabel() { + return label; + } + + public List getDescription() { + return description; + } + + public String getOntologyName() { + return ontologyName; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSQueryResponseDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSQueryResponseDto.java new file mode 100644 index 0000000..1e219b2 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSQueryResponseDto.java @@ -0,0 +1,29 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.ols; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonIgnoreProperties; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +@JsonIgnoreProperties(ignoreUnknown = true) +public final class OLSQueryResponseDto implements Serializable { + + private static final long serialVersionUID = 6519860430552605535L; + + @JsonProperty("response") + private final OLSQueryResponseEntryDto response; + + @JsonCreator + public OLSQueryResponseDto(@JsonProperty("response") OLSQueryResponseEntryDto response) { + this.response = response; + } + + public OLSQueryResponseEntryDto getResponse() { + return response; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSQueryResponseEntryDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSQueryResponseEntryDto.java new file mode 100644 index 0000000..686061c --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSQueryResponseEntryDto.java @@ -0,0 +1,48 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.ols; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonIgnoreProperties; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import java.io.Serializable; +import java.util.List; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +@JsonIgnoreProperties(ignoreUnknown = true) +public final class OLSQueryResponseEntryDto implements Serializable { + + private static final long serialVersionUID = 7846676429881522819L; + + @JsonProperty("numFound") + private final Integer numFound; + + @JsonProperty("start") + private final Integer start; + + @JsonProperty("docs") + private final List docs; + + @JsonCreator + public OLSQueryResponseEntryDto(@JsonProperty("numFound") Integer numFound, + @JsonProperty("start") Integer start, + @JsonProperty("docs") List docs) { + this.numFound = numFound; + this.start = start; + this.docs = docs; + } + + public Integer getNumFound() { + return numFound; + } + + public Integer getStart() { + return start; + } + + public List getDocs() { + return docs; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OLSService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OLSService.java index f040e05..482ac62 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OLSService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OLSService.java @@ -1,5 +1,6 @@ package uk.ac.ebi.spot.ontotools.curation.service; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSQueryDocDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSTermDto; import java.util.List; @@ -7,4 +8,6 @@ public interface OLSService { List retrieveTerms(String ontologyId, String identifierValue); + + List query(String prefix); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OLSServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OLSServiceImpl.java index 679236e..ca328aa 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OLSServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OLSServiceImpl.java @@ -13,6 +13,8 @@ import org.springframework.web.util.UriComponentsBuilder; import uk.ac.ebi.spot.ontotools.curation.config.RestInteractionConfig; import uk.ac.ebi.spot.ontotools.curation.constants.RestInteractionConstants; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSQueryDocDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSQueryResponseDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSResponseDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSTermDto; import uk.ac.ebi.spot.ontotools.curation.service.ConfigListener; @@ -93,13 +95,39 @@ public List retrieveTerms(String ontologyId, String identifierValue) return new ArrayList<>(); } + @Override + public List query(String prefix) { + log.info("Calling OLS search: {}", prefix); + UriComponentsBuilder uriBuilder = UriComponentsBuilder.fromHttpUrl(restInteractionConfig.getOlsSearchEndpoint()) + .queryParam(RestInteractionConstants.OLS_PARAM_Q, prefix); + String endpoint = uriBuilder.build().toUriString(); + + try { + HttpEntity httpEntity = restInteractionConfig.httpEntity().build(); + ResponseEntity response = + restTemplate.exchange(endpoint, + HttpMethod.GET, httpEntity, + new ParameterizedTypeReference<>() { + }); + + if (response.getStatusCode().equals(HttpStatus.OK)) { + log.info("OLS query [{}]: received {} docs.", prefix, response.getBody().getResponse().getDocs().size()); + return response.getBody().getResponse().getDocs(); + } + } catch (Exception e) { + log.error("Unable to call OLS: {}", e.getMessage(), e); + } + + return new ArrayList<>(); + } + /** * TODO: Implement * Scheduled task to periodically go through all local terms with status CURRENT | AWAITING_IMPORT or NEEDS_IMPORT * and repeat the process associated with checking the status - as per the initial term creation *

* Why?? - * + *

* Do we have to introduce project-based terms? If not - how do we use project preferences to do this import? */ public void importOLS() { diff --git a/src/main/resources/application.yml b/src/main/resources/application.yml index 35ef6d0..8403fac 100644 --- a/src/main/resources/application.yml +++ b/src/main/resources/application.yml @@ -27,6 +27,7 @@ ontotools: base: https://www.ebi.ac.uk/ols/api endpoints: ontologies: /ontologies + search: /search --- diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OLSServiceTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OLSServiceTest.java index 3021ca3..bf1611a 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OLSServiceTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OLSServiceTest.java @@ -2,13 +2,13 @@ import org.junit.Test; import org.springframework.beans.factory.annotation.Autowired; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSQueryDocDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSTermDto; import uk.ac.ebi.spot.ontotools.curation.service.OLSService; import java.util.List; -import static org.junit.Assert.assertEquals; -import static org.junit.Assert.assertFalse; +import static org.junit.Assert.*; public class OLSServiceTest extends IntegrationTest { @@ -28,4 +28,17 @@ public void shouldRetrieveTerms() { assertFalse(terms.get(0).getObsolete()); } + @Test + public void shouldQuery() { + String prefix = "diabetes"; + + List docs = olsService.query(prefix); + assertEquals(10, docs.size()); + + for (OLSQueryDocDto olsQueryDocDto : docs) { + if (olsQueryDocDto.getOntologyName().equalsIgnoreCase("efo")) { + assertEquals("EFO:0000400", olsQueryDocDto.getCurie()); + } + } + } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsUtilControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsUtilControllerTest.java new file mode 100644 index 0000000..c15602f --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsUtilControllerTest.java @@ -0,0 +1,46 @@ +package uk.ac.ebi.spot.ontotools.curation; + +import com.fasterxml.jackson.core.type.TypeReference; +import org.junit.Test; +import org.springframework.http.MediaType; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSQueryDocDto; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; + +import java.util.List; + +import static org.junit.Assert.assertEquals; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.get; +import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; + +public class ProjectsUtilControllerTest extends IntegrationTest { + + /** + * GET /v1/projects/{projectId}/searchOLS?query= + */ + @Test + public void shouldQueryOLS() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_SEARCH_OLS + + "?" + CurationConstants.PARAM_QUERY + "=diabetes"; + String response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + List docs = mapper.readValue(response, new TypeReference<>() { + }); + assertEquals(10, docs.size()); + for (OLSQueryDocDto olsQueryDocDto : docs) { + if (olsQueryDocDto.getOntologyName().equalsIgnoreCase("efo")) { + assertEquals("EFO:0000400", olsQueryDocDto.getCurie()); + } + } + } + +} diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSQueryDocDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSQueryDocDtoTest.java new file mode 100644 index 0000000..b067d46 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSQueryDocDtoTest.java @@ -0,0 +1,13 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.ols; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class OLSQueryDocDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(OLSQueryDocDto.class) + .verify(); + } +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSQueryResponseDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSQueryResponseDtoTest.java new file mode 100644 index 0000000..0b555bb --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSQueryResponseDtoTest.java @@ -0,0 +1,13 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.ols; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class OLSQueryResponseDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(OLSQueryResponseDto.class) + .verify(); + } +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSQueryResponseEntryDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSQueryResponseEntryDtoTest.java new file mode 100644 index 0000000..fc74f41 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSQueryResponseEntryDtoTest.java @@ -0,0 +1,13 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.ols; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class OLSQueryResponseEntryDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(OLSQueryResponseEntryDto.class) + .verify(); + } +} \ No newline at end of file From a37f7f08fc672abbacc16a5badb895a5d31bbb06 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Tue, 23 Mar 2021 21:50:51 +0800 Subject: [PATCH 59/72] Fixed semantics in audit trail entries. --- .../constants/AuditEntryConstants.java | 2 + .../curation/domain/MetadataEntry.java | 2 + .../assembler/MetadataEntryDtoAssembler.java | 2 +- .../rest/controller/MappingsController.java | 22 +++++----- .../rest/dto/audit/MetadataEntryDto.java | 12 +++++- .../curation/service/AuditEntryService.java | 4 +- .../curation/service/MappingService.java | 5 ++- .../service/impl/AuditEntryServiceImpl.java | 9 +---- .../service/impl/MappingServiceImpl.java | 40 ++++++++++++++----- .../impl/MappingSuggestionsServiceImpl.java | 12 +++--- .../curation/MappingsControllerTest.java | 4 +- 11 files changed, 73 insertions(+), 41 deletions(-) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/AuditEntryConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/AuditEntryConstants.java index 157ece6..4bed581 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/AuditEntryConstants.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/AuditEntryConstants.java @@ -2,6 +2,8 @@ public enum AuditEntryConstants { + ADDED, + REMOVED, ADDED_SUGGESTION, REMOVED_SUGGESTION, ADDED_MAPPING, diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MetadataEntry.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MetadataEntry.java index 2fabbf8..2716ec5 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MetadataEntry.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MetadataEntry.java @@ -10,4 +10,6 @@ public class MetadataEntry { private String key; private String value; + + private String action; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MetadataEntryDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MetadataEntryDtoAssembler.java index a06e050..1a6d43b 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MetadataEntryDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MetadataEntryDtoAssembler.java @@ -5,6 +5,6 @@ public class MetadataEntryDtoAssembler { public static MetadataEntryDto assemble(MetadataEntry metadataEntry) { - return new MetadataEntryDto(metadataEntry.getKey(), metadataEntry.getValue()); + return new MetadataEntryDto(metadataEntry.getKey(), metadataEntry.getValue(), metadataEntry.getAction()); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java index d23dd64..fa9ec36 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java @@ -7,9 +7,11 @@ import org.springframework.http.HttpStatus; import org.springframework.http.MediaType; import org.springframework.web.bind.annotation.*; +import uk.ac.ebi.spot.ontotools.curation.constants.AuditEntryConstants; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; +import uk.ac.ebi.spot.ontotools.curation.domain.MetadataEntry; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; @@ -124,30 +126,32 @@ public MappingDto updateMapping(@PathVariable String projectId, @PathVariable St Provenance provenance = new Provenance(user.getName(), user.getEmail(), DateTime.now()); Map ontologyTermMap = new LinkedHashMap<>(); - List ontologyTerms = new ArrayList<>(); + List newTerms = new ArrayList<>(); + List newTermIds = new ArrayList<>(); for (OntologyTermDto ontologyTermDto : mappingDto.getOntologyTerms()) { OntologyTerm ontologyTerm = ontologyTermService.retrieveTermByCurie(ontologyTermDto.getCurie()); ontologyTermMap.put(ontologyTerm.getId(), ontologyTerm); - ontologyTerms.add(ontologyTerm); + newTerms.add(ontologyTerm); + newTermIds.add(ontologyTerm.getId()); } Mapping existing = mappingService.retrieveMappingById(mappingId); List existingOntoIds = existing.getOntologyTermIds(); - Mapping updated = mappingService.updateMapping(mappingId, ontologyTerms, provenance); - - List old = new ArrayList<>(); + List oldTerms = new ArrayList<>(); for (String oId : existingOntoIds) { if (!ontologyTermMap.containsKey(oId)) { - old.add(ontologyTermService.retrieveTermById(oId)); + oldTerms.add(ontologyTermService.retrieveTermById(oId)); } } + Mapping updated = mappingService.updateMapping(mappingId, newTerms, newTermIds, oldTerms, provenance); + /** * Updating mapping status to MANUAL. */ Entity entity = entityService.retrieveEntity(updated.getEntityId()); entityService.updateMappingStatus(entity, EntityStatus.MANUALLY_MAPPED); - updated.setOntologyTerms(ontologyTerms); + updated.setOntologyTerms(newTerms); return MappingDtoAssembler.assemble(updated); } @@ -168,11 +172,11 @@ public void deleteMapping(@PathVariable String projectId, @PathVariable String m List ontoTermIds = mapping.getOntologyTermIds(); Map ontologyTermMap = new LinkedHashMap<>(); - Map metadata = new LinkedHashMap<>(); + List metadata = new ArrayList<>(); for (String ontoTermId : ontoTermIds) { OntologyTerm ontologyTerm = ontologyTermService.retrieveTermById(ontoTermId); ontologyTermMap.put(ontoTermId, ontologyTerm); - metadata.put(ontologyTerm.getIri(), ontologyTerm.getLabel()); + metadata.add(new MetadataEntry(ontologyTerm.getIri(), ontologyTerm.getLabel(), AuditEntryConstants.REMOVED.name())); } /** diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/MetadataEntryDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/MetadataEntryDto.java index 6e62b77..072cec0 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/MetadataEntryDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/audit/MetadataEntryDto.java @@ -22,11 +22,17 @@ public final class MetadataEntryDto implements Serializable { @JsonProperty("value") private final String value; + @NotEmpty + @JsonProperty("action") + private final String action; + @JsonCreator public MetadataEntryDto(@JsonProperty("key") String key, - @JsonProperty("value") String value) { + @JsonProperty("value") String value, + @JsonProperty("action") String action) { this.key = key; this.value = value; + this.action = action; } public String getKey() { @@ -36,4 +42,8 @@ public String getKey() { public String getValue() { return value; } + + public String getAction() { + return action; + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/AuditEntryService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/AuditEntryService.java index c551245..dce38f1 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/AuditEntryService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/AuditEntryService.java @@ -1,14 +1,14 @@ package uk.ac.ebi.spot.ontotools.curation.service; import uk.ac.ebi.spot.ontotools.curation.domain.AuditEntry; +import uk.ac.ebi.spot.ontotools.curation.domain.MetadataEntry; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import java.util.List; -import java.util.Map; public interface AuditEntryService { - void addEntry(String action, String entityId, Provenance provenance, Map metadata); + void addEntry(String action, String entityId, Provenance provenance, List metadataEntryList); List retrieveAuditEntries(String entityId); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java index 333daa9..92cd976 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java @@ -1,5 +1,6 @@ package uk.ac.ebi.spot.ontotools.curation.service; +import uk.ac.ebi.spot.ontotools.curation.domain.MetadataEntry; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; @@ -22,7 +23,7 @@ public interface MappingService { Mapping addCommentToMapping(String mappingId, String body, Provenance provenance); - Mapping updateMapping(String mappingId, List ontologyTerms, Provenance provenance); + Mapping updateMapping(String mappingId, List newTerms, List newTermIds, List oldTerms, Provenance provenance); - void deleteMapping(String mappingId, Provenance provenance, Map metadata); + void deleteMapping(String mappingId, Provenance provenance, List metadata); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/AuditEntryServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/AuditEntryServiceImpl.java index 2d04c11..d88df08 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/AuditEntryServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/AuditEntryServiceImpl.java @@ -10,9 +10,7 @@ import uk.ac.ebi.spot.ontotools.curation.repository.AuditEntryRepository; import uk.ac.ebi.spot.ontotools.curation.service.AuditEntryService; -import java.util.ArrayList; import java.util.List; -import java.util.Map; @Service public class AuditEntryServiceImpl implements AuditEntryService { @@ -22,12 +20,7 @@ public class AuditEntryServiceImpl implements AuditEntryService { @Override @Async(value = "applicationTaskExecutor") - public void addEntry(String action, String entityId, Provenance provenance, Map metadata) { - List metadataEntryList = new ArrayList<>(); - for (String key : metadata.keySet()) { - metadataEntryList.add(new MetadataEntry(key, metadata.get(key))); - } - + public void addEntry(String action, String entityId, Provenance provenance, List metadataEntryList) { auditEntryRepository.insert(new AuditEntry(null, entityId, action, provenance, metadataEntryList, DateTime.now())); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java index 4751059..409b4cb 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java @@ -6,6 +6,7 @@ import org.springframework.stereotype.Service; import uk.ac.ebi.spot.ontotools.curation.constants.AuditEntryConstants; import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; +import uk.ac.ebi.spot.ontotools.curation.domain.MetadataEntry; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.Review; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Comment; @@ -44,15 +45,16 @@ public Mapping createMapping(Entity entity, List ontologyTerms, Pr created.setOntologyTerms(ontologyTerms); for (OntologyTerm ontologyTerm : ontologyTerms) { - auditEntryService.addEntry(AuditEntryConstants.ADDED_MAPPING.name(), entity.getId(), provenance, Map.of(ontologyTerm.getIri(), ontologyTerm.getLabel())); + auditEntryService.addEntry(AuditEntryConstants.ADDED_MAPPING.name(), entity.getId(), provenance, + Arrays.asList(new MetadataEntry[]{new MetadataEntry(ontologyTerm.getIri(), ontologyTerm.getLabel(), AuditEntryConstants.ADDED.name())})); } log.info("Mapping for between entity [{}] and ontology term [{}] created: {}", entity.getName(), ontologyTerms, created.getId()); return created; } @Override - public Mapping updateMapping(String mappingId, List ontologyTerms, Provenance provenance) { - log.info("Updating mapping [{}]: {}", mappingId, ontologyTerms); + public Mapping updateMapping(String mappingId, List newTerms, List newTermIds, List oldTerms, Provenance provenance) { + log.info("Updating mapping [{}]: {}", mappingId, newTerms); Optional mappingOp = mappingRepository.findById(mappingId); if (!mappingOp.isPresent()) { log.error("Mapping not found: {}", mappingId); @@ -60,12 +62,26 @@ public Mapping updateMapping(String mappingId, List ontologyTerms, } Mapping mapping = mappingOp.get(); - List ontologyTermIds = new ArrayList<>(); - mapping.setOntologyTermIds(ontologyTermIds); - Map metadata = new LinkedHashMap<>(); - for (OntologyTerm ontologyTerm : ontologyTerms) { - ontologyTermIds.add(ontologyTerm.getId()); - metadata.put(ontologyTerm.getCurie(), ontologyTerm.getLabel()); + Map oldIRIs = new LinkedHashMap<>(); + for (OntologyTerm ontologyTerm : oldTerms) { + oldIRIs.put(ontologyTerm.getIri(), ontologyTerm.getLabel()); + } + Map newIRIs = new LinkedHashMap<>(); + for (OntologyTerm ontologyTerm : newTerms) { + oldIRIs.put(ontologyTerm.getIri(), ontologyTerm.getLabel()); + } + + mapping.setOntologyTermIds(newTermIds); + List metadata = new ArrayList<>(); + for (String oldIRI : oldIRIs.keySet()) { + if (!newIRIs.containsKey(oldIRI)) { + metadata.add(new MetadataEntry(oldIRI, oldIRIs.get(oldIRI), AuditEntryConstants.REMOVED.name())); + } + } + for (String newIRI : newIRIs.keySet()) { + if (!oldIRIs.containsKey(newIRI)) { + metadata.add(new MetadataEntry(newIRI, oldIRIs.get(newIRI), AuditEntryConstants.ADDED.name())); + } } auditEntryService.addEntry(AuditEntryConstants.UPDATED_MAPPING.name(), mappingOp.get().getEntityId(), provenance, metadata); @@ -73,7 +89,7 @@ public Mapping updateMapping(String mappingId, List ontologyTerms, } @Override - public void deleteMapping(String mappingId, Provenance provenance, Map metadata) { + public void deleteMapping(String mappingId, Provenance provenance, List metadata) { Optional mappingOp = mappingRepository.findById(mappingId); if (!mappingOp.isPresent()) { log.error("Mapping not found: {}", mappingId); @@ -153,7 +169,9 @@ public Mapping addReviewToMapping(String mappingId, String comment, int noReview mapping.addReview(new Review(comment, provenance), noReviewsRequired); mapping = mappingRepository.save(mapping); auditEntryService.addEntry(AuditEntryConstants.REVIEWED.name(), mappingOp.get().getEntityId(), provenance, - comment != null ? Map.of("COMMENT", comment) : new HashMap<>()); + comment != null ? + Arrays.asList(new MetadataEntry[]{new MetadataEntry("COMMENT", comment, AuditEntryConstants.ADDED.name())}) : + new ArrayList<>()); return mapping; } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java index a5973f5..649a7a2 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingSuggestionsServiceImpl.java @@ -6,6 +6,7 @@ import org.springframework.scheduling.annotation.Async; import org.springframework.stereotype.Service; import uk.ac.ebi.spot.ontotools.curation.constants.AuditEntryConstants; +import uk.ac.ebi.spot.ontotools.curation.domain.MetadataEntry; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.MappingSuggestion; @@ -42,7 +43,8 @@ public MappingSuggestion createMappingSuggestion(Entity entity, OntologyTerm ont } MappingSuggestion created = mappingSuggestionRepository.insert(new MappingSuggestion(null, entity.getId(), ontologyTerm.getId(), entity.getProjectId(), provenance, null)); - auditEntryService.addEntry(AuditEntryConstants.ADDED_SUGGESTION.name(), entity.getId(), provenance, Map.of(ontologyTerm.getIri(), ontologyTerm.getLabel())); + auditEntryService.addEntry(AuditEntryConstants.ADDED_SUGGESTION.name(), entity.getId(), provenance, + Arrays.asList(new MetadataEntry[]{new MetadataEntry(ontologyTerm.getIri(), ontologyTerm.getLabel(), AuditEntryConstants.ADDED.name())})); log.info("[{} | {}] Mapping suggestion created: {}", entity.getName(), ontologyTerm.getCurie(), created.getId()); return created; } @@ -52,15 +54,14 @@ public MappingSuggestion createMappingSuggestion(Entity entity, OntologyTerm ont public void deleteMappingSuggestionsExcluding(Entity entity, List ontologyTerms, Provenance provenance) { log.info("Deleting [{}] old mapping suggestions for: {}", ontologyTerms.size(), entity.getName()); List ontologyTermIds = new ArrayList<>(); - Map metadata = new LinkedHashMap<>(); + List metadata = new ArrayList<>(); for (OntologyTerm ontologyTerm : ontologyTerms) { ontologyTermIds.add(ontologyTerm.getId()); - metadata.put(ontologyTerm.getCurie(), ontologyTerm.getLabel()); + metadata.add(new MetadataEntry(ontologyTerm.getCurie(), ontologyTerm.getLabel(), AuditEntryConstants.REMOVED.name())); } List toDelete = mappingSuggestionRepository.findByEntityIdAndOntologyTermIdNotIn(entity.getId(), ontologyTermIds); log.info("[{}] Found {} mapping suggestions to delete.", entity.getName(), toDelete.size()); mappingSuggestionRepository.deleteAll(toDelete); - auditEntryService.addEntry(AuditEntryConstants.REMOVED_SUGGESTION.name(), entity.getId(), provenance, metadata); } @@ -114,6 +115,7 @@ public void deleteMappingSuggestions(String entityId, OntologyTerm ontologyTerm, mappingSuggestionRepository.delete(mappingSuggestion); } } - auditEntryService.addEntry(AuditEntryConstants.REMOVED_SUGGESTION.name(), entityId, provenance, Map.of(ontologyTerm.getIri(), ontologyTerm.getLabel())); + auditEntryService.addEntry(AuditEntryConstants.REMOVED_SUGGESTION.name(), entityId, provenance, + Arrays.asList(new MetadataEntry[]{new MetadataEntry(ontologyTerm.getIri(), ontologyTerm.getLabel(), AuditEntryConstants.REMOVED.name())})); } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java index 4ea3fdf..5c80807 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java @@ -207,8 +207,8 @@ public void shouldUpdateMapping() throws Exception { curies.add(metadataEntryDto.getKey()); } - assertTrue(curies.contains("MONDO:0007037")); - assertTrue(curies.contains("Orphanet:15")); + assertTrue(curies.contains("http://purl.obolibrary.org/obo/MONDO_0007037")); + assertTrue(curies.contains("http://www.orpha.net/ORDO/Orphanet_15")); } /** From b2996f268c868c28a92fac6ce56df5929d160374 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Wed, 24 Mar 2021 22:23:43 +0800 Subject: [PATCH 60/72] First version of the OntoTerms update task. --- .../config/RestInteractionConfig.java | 7 ++ .../curation/constants/MappingStatus.java | 3 +- .../{ => log}/FailedImportLogEntry.java | 2 +- .../domain/{ => log}/ImportLogBatch.java | 2 +- .../domain/{ => log}/MatchmakingLogBatch.java | 2 +- .../domain/{ => log}/MatchmakingLogEntry.java | 2 +- .../log/OntologyTermUpdateLogBatch.java | 23 ++++ .../log/OntologyTermUpdateLogEntry.java | 29 +++++ .../curation/domain/mapping/OntologyTerm.java | 1 + .../FailedImportLogEntryRepository.java | 2 +- .../repository/ImportLogBatchRepository.java | 2 +- .../repository/MappingRepository.java | 2 + .../MatchmakingLogBatchRepository.java | 2 +- .../MatchmakingLogEntryRepository.java | 2 +- .../repository/OntologyTermRepository.java | 3 + .../OntologyTermUpdateLogBatchRepository.java | 8 ++ .../OntologyTermUpdateLogEntryRepository.java | 8 ++ .../curation/rest/dto/ols/OLSTermDto.java | 11 +- .../curation/service/ImportLogService.java | 2 +- .../curation/service/MappingService.java | 2 + .../service/MatchmakingLogService.java | 2 +- .../curation/service/OLSService.java | 2 + .../service/impl/DataImportServiceImpl.java | 1 + .../service/impl/ImportLogServiceImpl.java | 4 +- .../service/impl/MappingServiceImpl.java | 11 ++ .../service/impl/MatchmakerServiceImpl.java | 2 +- .../impl/MatchmakingLogServiceImpl.java | 4 +- .../curation/service/impl/OLSServiceImpl.java | 40 +++++-- .../curation/tasks/OLSUpdateTask.java | 100 ++++++++++++++++++ src/main/resources/application.yml | 9 ++ .../curation/MatchMakingContolledTest.java | 20 ++-- .../ontotools/curation/OLSServiceTest.java | 8 ++ .../curation/tasks/OLSUpdateTaskTest.java | 93 ++++++++++++++++ 33 files changed, 373 insertions(+), 38 deletions(-) rename src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/{ => log}/FailedImportLogEntry.java (90%) rename src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/{ => log}/ImportLogBatch.java (94%) rename src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/{ => log}/MatchmakingLogBatch.java (92%) rename src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/{ => log}/MatchmakingLogEntry.java (91%) create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/log/OntologyTermUpdateLogBatch.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/log/OntologyTermUpdateLogEntry.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermUpdateLogBatchRepository.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermUpdateLogEntryRepository.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/tasks/OLSUpdateTask.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/tasks/OLSUpdateTaskTest.java diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/RestInteractionConfig.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/RestInteractionConfig.java index 05ad723..aac6ade 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/RestInteractionConfig.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/RestInteractionConfig.java @@ -25,6 +25,9 @@ public class RestInteractionConfig { @Value("${ontotools.ols.endpoints.ontologies}") private String olsOntologiesEndpoint; + @Value("${ontotools.ols.endpoints.terms}") + private String olsTermsEndpoint; + @Value("${ontotools.ols.endpoints.search}") private String olsSearchEndpoint; @@ -62,4 +65,8 @@ public String getOlsOntologiesEndpoint() { public String getOlsSearchEndpoint() { return olsBase + olsSearchEndpoint; } + + public String getOlsTermsEndpoint() { + return olsBase + olsTermsEndpoint; + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/MappingStatus.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/MappingStatus.java index 5bf8e8f..4943880 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/MappingStatus.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/MappingStatus.java @@ -4,6 +4,7 @@ public enum MappingStatus { AWAITING_REVIEW, REVIEW_IN_PROGRESS, - REQUIRED_REVIEWS_REACHED + REQUIRED_REVIEWS_REACHED, + HAS_OBSOLETE_TERM } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/FailedImportLogEntry.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/log/FailedImportLogEntry.java similarity index 90% rename from src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/FailedImportLogEntry.java rename to src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/log/FailedImportLogEntry.java index dc1d131..7ea232c 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/FailedImportLogEntry.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/log/FailedImportLogEntry.java @@ -1,4 +1,4 @@ -package uk.ac.ebi.spot.ontotools.curation.domain; +package uk.ac.ebi.spot.ontotools.curation.domain.log; import lombok.AllArgsConstructor; import lombok.Getter; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ImportLogBatch.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/log/ImportLogBatch.java similarity index 94% rename from src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ImportLogBatch.java rename to src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/log/ImportLogBatch.java index f7cbe60..7720ae8 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ImportLogBatch.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/log/ImportLogBatch.java @@ -1,4 +1,4 @@ -package uk.ac.ebi.spot.ontotools.curation.domain; +package uk.ac.ebi.spot.ontotools.curation.domain.log; import lombok.AllArgsConstructor; import lombok.Getter; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MatchmakingLogBatch.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/log/MatchmakingLogBatch.java similarity index 92% rename from src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MatchmakingLogBatch.java rename to src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/log/MatchmakingLogBatch.java index 2c40c96..1daa4c0 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MatchmakingLogBatch.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/log/MatchmakingLogBatch.java @@ -1,4 +1,4 @@ -package uk.ac.ebi.spot.ontotools.curation.domain; +package uk.ac.ebi.spot.ontotools.curation.domain.log; import lombok.AllArgsConstructor; import lombok.Getter; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MatchmakingLogEntry.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/log/MatchmakingLogEntry.java similarity index 91% rename from src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MatchmakingLogEntry.java rename to src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/log/MatchmakingLogEntry.java index 9670cce..3d6e4ca 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/MatchmakingLogEntry.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/log/MatchmakingLogEntry.java @@ -1,4 +1,4 @@ -package uk.ac.ebi.spot.ontotools.curation.domain; +package uk.ac.ebi.spot.ontotools.curation.domain.log; import lombok.AllArgsConstructor; import lombok.Getter; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/log/OntologyTermUpdateLogBatch.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/log/OntologyTermUpdateLogBatch.java new file mode 100644 index 0000000..271ae2f --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/log/OntologyTermUpdateLogBatch.java @@ -0,0 +1,23 @@ +package uk.ac.ebi.spot.ontotools.curation.domain.log; + +import lombok.AllArgsConstructor; +import lombok.Getter; +import lombok.Setter; +import org.joda.time.DateTime; +import org.springframework.data.annotation.Id; +import org.springframework.data.mongodb.core.mapping.Document; + +@AllArgsConstructor +@Getter +@Setter +@Document(collection = "ontoTermsLogBatches") +public class OntologyTermUpdateLogBatch { + + @Id + private String id; + + private DateTime timestamp; + + private int totalTime; + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/log/OntologyTermUpdateLogEntry.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/log/OntologyTermUpdateLogEntry.java new file mode 100644 index 0000000..06f9b4b --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/log/OntologyTermUpdateLogEntry.java @@ -0,0 +1,29 @@ +package uk.ac.ebi.spot.ontotools.curation.domain.log; + +import lombok.AllArgsConstructor; +import lombok.Getter; +import org.springframework.data.annotation.Id; +import org.springframework.data.mongodb.core.index.Indexed; +import org.springframework.data.mongodb.core.mapping.Document; + +@AllArgsConstructor +@Getter +@Document(collection = "ontoTermsLogEntries") +public class OntologyTermUpdateLogEntry { + + @Id + private String id; + + @Indexed + private String batchId; + + private String ontoTermId; + + private String ontoTermCurie; + + private String ontoTermLabel; + + private String previousStatus; + + private String newStatus; +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/OntologyTerm.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/OntologyTerm.java index 2d52f12..9daf8ef 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/OntologyTerm.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/OntologyTerm.java @@ -28,6 +28,7 @@ public class OntologyTerm { private String label; + @Indexed private String status; private String description; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/FailedImportLogEntryRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/FailedImportLogEntryRepository.java index 8e6489d..cfea888 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/FailedImportLogEntryRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/FailedImportLogEntryRepository.java @@ -1,7 +1,7 @@ package uk.ac.ebi.spot.ontotools.curation.repository; import org.springframework.data.mongodb.repository.MongoRepository; -import uk.ac.ebi.spot.ontotools.curation.domain.FailedImportLogEntry; +import uk.ac.ebi.spot.ontotools.curation.domain.log.FailedImportLogEntry; public interface FailedImportLogEntryRepository extends MongoRepository { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ImportLogBatchRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ImportLogBatchRepository.java index e175699..83371b8 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ImportLogBatchRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/ImportLogBatchRepository.java @@ -1,7 +1,7 @@ package uk.ac.ebi.spot.ontotools.curation.repository; import org.springframework.data.mongodb.repository.MongoRepository; -import uk.ac.ebi.spot.ontotools.curation.domain.ImportLogBatch; +import uk.ac.ebi.spot.ontotools.curation.domain.log.ImportLogBatch; public interface ImportLogBatchRepository extends MongoRepository { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java index 19a05b6..98d34d0 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java @@ -10,4 +10,6 @@ public interface MappingRepository extends MongoRepository { List findByEntityIdIn(List entityIds); Optional findByEntityId(String entityId); + + List findByOntologyTermIdsContains(String ontoTermId); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MatchmakingLogBatchRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MatchmakingLogBatchRepository.java index b2aa687..d6faf6f 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MatchmakingLogBatchRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MatchmakingLogBatchRepository.java @@ -1,7 +1,7 @@ package uk.ac.ebi.spot.ontotools.curation.repository; import org.springframework.data.mongodb.repository.MongoRepository; -import uk.ac.ebi.spot.ontotools.curation.domain.MatchmakingLogBatch; +import uk.ac.ebi.spot.ontotools.curation.domain.log.MatchmakingLogBatch; public interface MatchmakingLogBatchRepository extends MongoRepository { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MatchmakingLogEntryRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MatchmakingLogEntryRepository.java index 5aebb85..4c5828d 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MatchmakingLogEntryRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MatchmakingLogEntryRepository.java @@ -1,7 +1,7 @@ package uk.ac.ebi.spot.ontotools.curation.repository; import org.springframework.data.mongodb.repository.MongoRepository; -import uk.ac.ebi.spot.ontotools.curation.domain.MatchmakingLogEntry; +import uk.ac.ebi.spot.ontotools.curation.domain.log.MatchmakingLogEntry; public interface MatchmakingLogEntryRepository extends MongoRepository { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java index 7705ad5..6bfd79a 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java @@ -5,6 +5,7 @@ import java.util.List; import java.util.Optional; +import java.util.stream.Stream; public interface OntologyTermRepository extends MongoRepository { List findByIdIn(List ontoTermIds); @@ -14,4 +15,6 @@ public interface OntologyTermRepository extends MongoRepository findByCurie(String curie); List findByCurieIn(List curies); + + Stream readByStatusIn(List statusList); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermUpdateLogBatchRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermUpdateLogBatchRepository.java new file mode 100644 index 0000000..1dfedc9 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermUpdateLogBatchRepository.java @@ -0,0 +1,8 @@ +package uk.ac.ebi.spot.ontotools.curation.repository; + +import org.springframework.data.mongodb.repository.MongoRepository; +import uk.ac.ebi.spot.ontotools.curation.domain.log.OntologyTermUpdateLogBatch; + +public interface OntologyTermUpdateLogBatchRepository extends MongoRepository { + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermUpdateLogEntryRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermUpdateLogEntryRepository.java new file mode 100644 index 0000000..5558cd7 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermUpdateLogEntryRepository.java @@ -0,0 +1,8 @@ +package uk.ac.ebi.spot.ontotools.curation.repository; + +import org.springframework.data.mongodb.repository.MongoRepository; +import uk.ac.ebi.spot.ontotools.curation.domain.log.OntologyTermUpdateLogEntry; + +public interface OntologyTermUpdateLogEntryRepository extends MongoRepository { + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSTermDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSTermDto.java index 5952fc1..6805880 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSTermDto.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/ols/OLSTermDto.java @@ -27,15 +27,20 @@ public final class OLSTermDto implements Serializable { @JsonProperty("is_obsolete") private final Boolean obsolete; + @JsonProperty("is_defining_ontology") + private final Boolean definingOntology; + @JsonCreator public OLSTermDto(@JsonProperty("iri") String iri, @JsonProperty("obo_id") String curie, @JsonProperty("label") String label, - @JsonProperty("is_obsolete") Boolean obsolete) { + @JsonProperty("is_obsolete") Boolean obsolete, + @JsonProperty("is_defining_ontology") Boolean definingOntology) { this.iri = iri; this.curie = curie; this.label = label; this.obsolete = obsolete; + this.definingOntology = definingOntology; } public String getIri() { @@ -53,4 +58,8 @@ public String getLabel() { public Boolean getObsolete() { return obsolete; } + + public Boolean getDefiningOntology() { + return definingOntology; + } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ImportLogService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ImportLogService.java index b7ed8e6..5909b03 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ImportLogService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/ImportLogService.java @@ -1,6 +1,6 @@ package uk.ac.ebi.spot.ontotools.curation.service; -import uk.ac.ebi.spot.ontotools.curation.domain.FailedImportLogEntry; +import uk.ac.ebi.spot.ontotools.curation.domain.log.FailedImportLogEntry; public interface ImportLogService { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java index 92cd976..bd4cb9a 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java @@ -26,4 +26,6 @@ public interface MappingService { Mapping updateMapping(String mappingId, List newTerms, List newTermIds, List oldTerms, Provenance provenance); void deleteMapping(String mappingId, Provenance provenance, List metadata); + + void updateStatusForObsoleteMappings(String ontologyTermId); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakingLogService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakingLogService.java index b2ecb2f..34944da 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakingLogService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakingLogService.java @@ -1,6 +1,6 @@ package uk.ac.ebi.spot.ontotools.curation.service; -import uk.ac.ebi.spot.ontotools.curation.domain.MatchmakingLogEntry; +import uk.ac.ebi.spot.ontotools.curation.domain.log.MatchmakingLogEntry; public interface MatchmakingLogService { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OLSService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OLSService.java index 482ac62..1632228 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OLSService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OLSService.java @@ -10,4 +10,6 @@ public interface OLSService { List retrieveTerms(String ontologyId, String identifierValue); List query(String prefix); + + OLSTermDto retrieveOriginalTerm(String iri); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java index d083da4..3e00c62 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/DataImportServiceImpl.java @@ -13,6 +13,7 @@ import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.domain.*; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.domain.log.FailedImportLogEntry; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.rest.dto.dataimport.ImportDataElementDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.dataimport.ImportDataPackageDto; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ImportLogServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ImportLogServiceImpl.java index 1d32226..05f6053 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ImportLogServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ImportLogServiceImpl.java @@ -4,8 +4,8 @@ import org.springframework.beans.factory.annotation.Autowired; import org.springframework.scheduling.annotation.Async; import org.springframework.stereotype.Service; -import uk.ac.ebi.spot.ontotools.curation.domain.FailedImportLogEntry; -import uk.ac.ebi.spot.ontotools.curation.domain.ImportLogBatch; +import uk.ac.ebi.spot.ontotools.curation.domain.log.FailedImportLogEntry; +import uk.ac.ebi.spot.ontotools.curation.domain.log.ImportLogBatch; import uk.ac.ebi.spot.ontotools.curation.repository.FailedImportLogEntryRepository; import uk.ac.ebi.spot.ontotools.curation.repository.ImportLogBatchRepository; import uk.ac.ebi.spot.ontotools.curation.service.ImportLogService; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java index 409b4cb..b5db75f 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java @@ -3,6 +3,7 @@ import org.slf4j.Logger; import org.slf4j.LoggerFactory; import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.scheduling.annotation.Async; import org.springframework.stereotype.Service; import uk.ac.ebi.spot.ontotools.curation.constants.AuditEntryConstants; import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; @@ -100,6 +101,16 @@ public void deleteMapping(String mappingId, Provenance provenance, List mappings = mappingRepository.findByOntologyTermIdsContains(ontologyTermId); + for (Mapping mapping : mappings) { + mapping.setStatus(MappingStatus.HAS_OBSOLETE_TERM.name()); + mappingRepository.save(mapping); + } + } + @Override public Map retrieveMappingsForEntities(List entityIds) { log.info("Retrieving mappings for entities: {}", entityIds); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java index 559c511..376af95 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java @@ -8,7 +8,7 @@ import org.springframework.scheduling.annotation.Async; import org.springframework.stereotype.Service; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; -import uk.ac.ebi.spot.ontotools.curation.domain.MatchmakingLogEntry; +import uk.ac.ebi.spot.ontotools.curation.domain.log.MatchmakingLogEntry; import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.domain.ProjectContext; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakingLogServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakingLogServiceImpl.java index 5e7d6ce..9639a49 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakingLogServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakingLogServiceImpl.java @@ -4,8 +4,8 @@ import org.springframework.beans.factory.annotation.Autowired; import org.springframework.scheduling.annotation.Async; import org.springframework.stereotype.Service; -import uk.ac.ebi.spot.ontotools.curation.domain.MatchmakingLogBatch; -import uk.ac.ebi.spot.ontotools.curation.domain.MatchmakingLogEntry; +import uk.ac.ebi.spot.ontotools.curation.domain.log.MatchmakingLogBatch; +import uk.ac.ebi.spot.ontotools.curation.domain.log.MatchmakingLogEntry; import uk.ac.ebi.spot.ontotools.curation.repository.MatchmakingLogBatchRepository; import uk.ac.ebi.spot.ontotools.curation.repository.MatchmakingLogEntryRepository; import uk.ac.ebi.spot.ontotools.curation.service.MatchmakingLogService; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OLSServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OLSServiceImpl.java index ca328aa..07a5876 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OLSServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OLSServiceImpl.java @@ -79,7 +79,7 @@ public List retrieveTerms(String ontologyId, String identifierValue) ResponseEntity response = restTemplate.exchange(endpoint, HttpMethod.GET, httpEntity, - new ParameterizedTypeReference() { + new ParameterizedTypeReference<>() { }); if (response.getStatusCode().equals(HttpStatus.OK)) { @@ -121,17 +121,35 @@ public List query(String prefix) { return new ArrayList<>(); } - /** - * TODO: Implement - * Scheduled task to periodically go through all local terms with status CURRENT | AWAITING_IMPORT or NEEDS_IMPORT - * and repeat the process associated with checking the status - as per the initial term creation - *

- * Why?? - *

- * Do we have to introduce project-based terms? If not - how do we use project preferences to do this import? - */ - public void importOLS() { + @Override + public OLSTermDto retrieveOriginalTerm(String iri) { + log.info("Calling OLS terms: {}", iri); + UriComponentsBuilder uriBuilder = UriComponentsBuilder.fromHttpUrl(restInteractionConfig.getOlsTermsEndpoint()) + .queryParam(RestInteractionConstants.OLS_IDTYPE_IRI, iri); + String endpoint = uriBuilder.build().toUriString(); + try { + HttpEntity httpEntity = restInteractionConfig.httpEntity().build(); + ResponseEntity response = + restTemplate.exchange(endpoint, + HttpMethod.GET, httpEntity, + new ParameterizedTypeReference<>() { + }); + + if (response.getStatusCode().equals(HttpStatus.OK)) { + List olsTermDtos = response.getBody().getEmbedded().getTerms(); + log.info("OLS terms [{}]: received {} docs.", iri, olsTermDtos.size()); + for (OLSTermDto olsTermDto : olsTermDtos) { + if (olsTermDto.getDefiningOntology() != null && olsTermDto.getDefiningOntology()) { + return olsTermDto; + } + } + + } + } catch (Exception e) { + log.error("Unable to call OLS: {}", e.getMessage(), e); + } + return null; } @Override diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/tasks/OLSUpdateTask.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/tasks/OLSUpdateTask.java new file mode 100644 index 0000000..44ef237 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/tasks/OLSUpdateTask.java @@ -0,0 +1,100 @@ +package uk.ac.ebi.spot.ontotools.curation.tasks; + +import org.joda.time.DateTime; +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.boot.autoconfigure.condition.ConditionalOnProperty; +import org.springframework.scheduling.annotation.Scheduled; +import org.springframework.stereotype.Component; +import uk.ac.ebi.spot.ontotools.curation.constants.TermStatus; +import uk.ac.ebi.spot.ontotools.curation.domain.log.OntologyTermUpdateLogBatch; +import uk.ac.ebi.spot.ontotools.curation.domain.log.OntologyTermUpdateLogEntry; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.repository.OntologyTermRepository; +import uk.ac.ebi.spot.ontotools.curation.repository.OntologyTermUpdateLogBatchRepository; +import uk.ac.ebi.spot.ontotools.curation.repository.OntologyTermUpdateLogEntryRepository; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSTermDto; +import uk.ac.ebi.spot.ontotools.curation.service.MappingService; +import uk.ac.ebi.spot.ontotools.curation.service.OLSService; + +import java.util.Arrays; +import java.util.List; +import java.util.stream.Stream; + +@Component +@ConditionalOnProperty(name = "ontotools.ols.update-schedule.enabled", havingValue = "true") +public class OLSUpdateTask { + + private static final Logger log = LoggerFactory.getLogger(OLSUpdateTask.class); + + /** + * Scheduled task to periodically go through all local terms with status CURRENT | AWAITING_IMPORT or NEEDS_IMPORT + * and repeat the process associated with checking the status - as per the initial term creation + */ + + @Autowired + private OntologyTermRepository ontologyTermRepository; + + @Autowired + private OntologyTermUpdateLogBatchRepository ontologyTermUpdateLogBatchRepository; + + @Autowired + private OntologyTermUpdateLogEntryRepository ontologyTermUpdateLogEntryRepository; + + @Autowired + private OLSService olsService; + + @Autowired + private MappingService mappingService; + + @Scheduled(cron = "${ontotools.ols.update-schedule.pattern}") + public void updateOntologyTerms() { + log.info("Running ontology terms update ..."); + double sTime = System.currentTimeMillis(); + List targetStatusList = Arrays.asList(new String[]{ + TermStatus.CURRENT.name(), + TermStatus.AWAITING_IMPORT.name(), + TermStatus.NEEDS_IMPORT.name(), + TermStatus.NEEDS_CREATION.name() + }); + + OntologyTermUpdateLogBatch ontologyTermUpdateLogBatch = ontologyTermUpdateLogBatchRepository.insert(new OntologyTermUpdateLogBatch(null, DateTime.now(), 0)); + + Stream ontologyTermStream = ontologyTermRepository.readByStatusIn(targetStatusList); + ontologyTermStream.forEach(ontologyTerm -> this.updateTerm(ontologyTerm, ontologyTermUpdateLogBatch.getId())); + ontologyTermStream.close(); + + double eTime = System.currentTimeMillis(); + double tTime = (eTime - sTime) / 1000; + ontologyTermUpdateLogBatch.setTotalTime((int) tTime); + ontologyTermUpdateLogBatchRepository.save(ontologyTermUpdateLogBatch); + log.info("Ontology terms update finalized in {}s.", tTime); + } + + /** + * TODO: Fix this to cater for transitions starting from NEEDS_IMPORT / AWAITING_IMPORT into CURRENT + */ + + private void updateTerm(OntologyTerm ontologyTerm, String batchId) { + String currentStatus = ontologyTerm.getStatus(); + String newStatus = currentStatus; + OLSTermDto olsTermDto = olsService.retrieveOriginalTerm(ontologyTerm.getIri()); + if (olsTermDto == null) { + newStatus = TermStatus.DELETED.name(); + } else { + if (olsTermDto.getObsolete() != null && olsTermDto.getObsolete()) { + newStatus = TermStatus.OBSOLETE.name(); + } + } + + if (!currentStatus.equalsIgnoreCase(newStatus)) { + ontologyTermUpdateLogEntryRepository.insert(new OntologyTermUpdateLogEntry(null, batchId, ontologyTerm.getId(), + ontologyTerm.getCurie(), ontologyTerm.getLabel(), currentStatus, newStatus)); + ontologyTerm.setStatus(newStatus); + ontologyTermRepository.save(ontologyTerm); + + mappingService.updateStatusForObsoleteMappings(ontologyTerm.getId()); + } + } +} diff --git a/src/main/resources/application.yml b/src/main/resources/application.yml index 8403fac..3519950 100644 --- a/src/main/resources/application.yml +++ b/src/main/resources/application.yml @@ -28,6 +28,10 @@ ontotools: endpoints: ontologies: /ontologies search: /search + terms: /terms + update-schedule: + enabled: false + pattern: 0 0 1 * * MON --- @@ -42,6 +46,11 @@ spring: ontotools-curation: db: ontotools-curation-dev +ontotools: + ols: + update-schedule: + enabled: true + --- spring: diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java index 6e108e0..bab7c5c 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java @@ -117,10 +117,10 @@ public void testCase1() { when(zoomaService.annotate(eq(entity.getName()), any(), any())).thenReturn(zoomaResponseDtos); when(olsService.retrieveTerms(eq(CurationUtil.ontoFromIRI(iri1)), eq(iri1))).thenReturn( - Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri1, "Orphanet:15", "Achondroplasia", false)}) + Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri1, "Orphanet:15", "Achondroplasia", false, true)}) ); when(olsService.retrieveTerms(eq(CurationUtil.ontoFromIRI(iri2)), eq(iri2))).thenReturn( - Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri2, "MONDO:0007037", "achondroplasia", false)}) + Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri2, "MONDO:0007037", "achondroplasia", false, true)}) ); matchmakerService.runMatchmaking(sourceDto.getId(), project); @@ -164,10 +164,10 @@ public void testCase2() { when(zoomaService.annotate(eq(entity.getName()), any(), any())).thenReturn(zoomaResponseDtos); when(olsService.retrieveTerms(eq(CurationUtil.ontoFromIRI(iri1)), eq(iri1))).thenReturn( - Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri3, "ICD:12356", "Pseudo-achondroplasia", false)}) + Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri3, "ICD:12356", "Pseudo-achondroplasia", false, true)}) ); when(olsService.retrieveTerms(eq(CurationUtil.ontoFromIRI(iri2)), eq(iri2))).thenReturn( - Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri2, "MONDO:0007037", "ACH", false)}) + Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri2, "MONDO:0007037", "ACH", false, true)}) ); matchmakerService.runMatchmaking(sourceDto.getId(), project); @@ -210,10 +210,10 @@ public void testCase3() { when(zoomaService.annotate(eq(entity.getName()), any(), any())).thenReturn(zoomaResponseDtos); when(olsService.retrieveTerms(eq(CurationUtil.ontoFromIRI(iri1)), eq(iri1))).thenReturn( - Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri1, "Orphanet:15", "Achondroplasia", false)}) + Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri1, "Orphanet:15", "Achondroplasia", false, true)}) ); when(olsService.retrieveTerms(eq(CurationUtil.ontoFromIRI(iri2)), eq(iri2))).thenReturn( - Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri2, "MONDO:0007037", "ACH", false)}) + Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri2, "MONDO:0007037", "ACH", false, true)}) ); this.ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp"}); @@ -261,10 +261,10 @@ public void testCase4() { when(zoomaService.annotate(eq(entity.getName()), any(), any())).thenReturn(zoomaResponseDtos); when(olsService.retrieveTerms(eq(CurationUtil.ontoFromIRI(iri1)), eq(iri1))).thenReturn( - Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri1, "Orphanet:15", "Achondroplasia", false)}) + Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri1, "Orphanet:15", "Achondroplasia", false, true)}) ); when(olsService.retrieveTerms(eq(CurationUtil.ontoFromIRI(iri2)), eq(iri2))).thenReturn( - Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri2, "MONDO:0007037", "ACH", false)}) + Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri2, "MONDO:0007037", "ACH", false, true)}) ); matchmakerService.runMatchmaking(sourceDto.getId(), project); @@ -307,10 +307,10 @@ public void testCase5() { when(zoomaService.annotate(eq(entity.getName()), any(), any())).thenReturn(zoomaResponseDtos); when(olsService.retrieveTerms(eq(CurationUtil.ontoFromIRI(iri1)), eq(iri1))).thenReturn( - Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri1, "Orphanet:15", "Pseudo-achondroplasia", false)}) + Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri1, "Orphanet:15", "Pseudo-achondroplasia", false, true)}) ); when(olsService.retrieveTerms(eq(CurationUtil.ontoFromIRI(iri2)), eq(iri2))).thenReturn( - Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri2, "MONDO:0007037", "ACH", false)}) + Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri2, "MONDO:0007037", "ACH", false, true)}) ); matchmakerService.runMatchmaking(sourceDto.getId(), project); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OLSServiceTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OLSServiceTest.java index bf1611a..49006bd 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OLSServiceTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OLSServiceTest.java @@ -41,4 +41,12 @@ public void shouldQuery() { } } } + + @Test + public void shouldGetTerm() { + String iri = "http://www.ebi.ac.uk/efo/EFO_0001444"; + + OLSTermDto olsTermDto = olsService.retrieveOriginalTerm(iri); + assertNotNull(olsTermDto); + } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/tasks/OLSUpdateTaskTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/tasks/OLSUpdateTaskTest.java new file mode 100644 index 0000000..93cbd8a --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/tasks/OLSUpdateTaskTest.java @@ -0,0 +1,93 @@ +package uk.ac.ebi.spot.ontotools.curation.tasks; + +import org.apache.commons.codec.digest.DigestUtils; +import org.apache.commons.lang3.RandomStringUtils; +import org.joda.time.DateTime; +import org.junit.Test; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.test.context.ContextConfiguration; +import uk.ac.ebi.spot.ontotools.curation.IntegrationTest; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; +import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; +import uk.ac.ebi.spot.ontotools.curation.constants.TermStatus; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.repository.EntityRepository; +import uk.ac.ebi.spot.ontotools.curation.repository.OntologyTermRepository; +import uk.ac.ebi.spot.ontotools.curation.repository.OntologyTermUpdateLogEntryRepository; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSTermDto; +import uk.ac.ebi.spot.ontotools.curation.service.OLSService; + +import java.util.ArrayList; +import java.util.Arrays; + +import static org.junit.Assert.assertEquals; +import static org.mockito.Mockito.*; + +@ContextConfiguration(classes = {IntegrationTest.MockTaskExecutorConfig.class, + IntegrationTest.MockOLSServiceConfig.class}) +public class OLSUpdateTaskTest extends IntegrationTest { + + @Autowired + private OLSUpdateTask olsUpdateTask; + + @Autowired + private OLSService olsService; + + @Autowired + private OntologyTermRepository ontologyTermRepository; + + @Autowired + private OntologyTermUpdateLogEntryRepository ontologyTermUpdateLogEntryRepository; + + @Autowired + private EntityRepository entityRepository; + + private OntologyTerm orphaTerm; + + private OntologyTerm mondoTerm; + + private Mapping mapping; + + @Override + public void setup() throws Exception { + super.setup(); + this.orphaTerm = ontologyTermRepository.insert(new OntologyTerm(null, "Orphanet:15", "http://www.orpha.net/ORDO/Orphanet_15", + DigestUtils.sha256Hex("http://www.orpha.net/ORDO/Orphanet_15"), "Achondroplasia", TermStatus.CURRENT.name(), null, null)); + this.mondoTerm = ontologyTermRepository.insert(new OntologyTerm(null, "MONDO:0007037", "http://purl.obolibrary.org/obo/MONDO_0007037", + DigestUtils.sha256Hex("http://purl.obolibrary.org/obo/MONDO_0007037"), "Achondroplasia", TermStatus.NEEDS_IMPORT.name(), null, null)); + + Entity entity = entityRepository.insert(new Entity(null, "Achondroplasia", RandomStringUtils.randomAlphabetic(10), + CurationConstants.CONTEXT_DEFAULT, RandomStringUtils.randomAlphabetic(10), RandomStringUtils.randomAlphabetic(10), + null, new Provenance(user1.getName(), user1.getEmail(), DateTime.now()), EntityStatus.AUTO_MAPPED)); + + mapping = mappingRepository.insert(new Mapping(null, entity.getId(), Arrays.asList(new String[]{orphaTerm.getId()}), + entity.getProjectId(), false, new ArrayList<>(), new ArrayList<>(), MappingStatus.AWAITING_REVIEW.name(), + new Provenance(user1.getName(), user1.getEmail(), DateTime.now()), null)); + + when(olsService.retrieveOriginalTerm(this.mondoTerm.getIri())).thenReturn(null); + when(olsService.retrieveOriginalTerm(this.orphaTerm.getIri())).thenReturn(new OLSTermDto(this.orphaTerm.getIri(), + this.orphaTerm.getCurie(), this.orphaTerm.getLabel(), true, true)); + } + + @Test + public void shouldRunUpdate() { + olsUpdateTask.updateOntologyTerms(); + + OntologyTerm ontologyTerm = ontologyTermRepository.findById(this.orphaTerm.getId()).get(); + assertEquals(TermStatus.OBSOLETE.name(), ontologyTerm.getStatus()); + + ontologyTerm = ontologyTermRepository.findById(this.mondoTerm.getId()).get(); + assertEquals(TermStatus.DELETED.name(), ontologyTerm.getStatus()); + assertEquals(2, ontologyTermUpdateLogEntryRepository.findAll().size()); + + Mapping newMapping = mappingRepository.findById(mapping.getId()).get(); + assertEquals(MappingStatus.HAS_OBSOLETE_TERM.name(), newMapping.getStatus()); + + verify(olsService, times(1)).retrieveOriginalTerm(eq(this.mondoTerm.getIri())); + verify(olsService, times(1)).retrieveOriginalTerm(eq(this.orphaTerm.getIri())); + } +} \ No newline at end of file From d5bf4d35cbe37eda076ee050231042bd4566aa4d Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Thu, 25 Mar 2021 21:25:39 +0800 Subject: [PATCH 61/72] First version of the mapping update task. --- .../curation/domain/mapping/Entity.java | 3 +- .../curation/repository/EntityRepository.java | 4 + .../repository/MappingRepository.java | 1 + .../curation/service/MatchmakerService.java | 4 + .../service/impl/MatchmakerServiceImpl.java | 4 +- .../service/impl/ZoomaServiceImpl.java | 12 --- .../curation/tasks/MappingUpdateTask.java | 76 +++++++++++++++++++ ...eTask.java => OntologyTermUpdateTask.java} | 4 +- src/main/resources/application.yml | 6 ++ ...t.java => OntologyTermUpdateTaskTest.java} | 6 +- 10 files changed, 100 insertions(+), 20 deletions(-) create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/tasks/MappingUpdateTask.java rename src/main/java/uk/ac/ebi/spot/ontotools/curation/tasks/{OLSUpdateTask.java => OntologyTermUpdateTask.java} (97%) rename src/test/java/uk/ac/ebi/spot/ontotools/curation/tasks/{OLSUpdateTaskTest.java => OntologyTermUpdateTaskTest.java} (96%) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Entity.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Entity.java index f5ea5ed..4bdf432 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Entity.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Entity.java @@ -18,7 +18,8 @@ @NoArgsConstructor @AllArgsConstructor @CompoundIndexes({@CompoundIndex(name = "ppIdx", def = "{'projectId': 1, 'priority': 1}"), - @CompoundIndex(name = "ppCon", def = "{'projectId': 1, 'context': 1}")}) + @CompoundIndex(name = "ppCon", def = "{'projectId': 1, 'context': 1}"), + @CompoundIndex(name = "ppStat", def = "{'projectId': 1, 'mappingStatus': 1}")}) public class Entity { @Id diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java index 23f9938..2a32f50 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java @@ -3,8 +3,10 @@ import org.springframework.data.domain.Page; import org.springframework.data.domain.Pageable; import org.springframework.data.mongodb.repository.MongoRepository; +import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; +import java.util.List; import java.util.stream.Stream; public interface EntityRepository extends MongoRepository { @@ -16,4 +18,6 @@ public interface EntityRepository extends MongoRepository { Stream readByProjectId(String projectId); Stream readByProjectIdAndContext(String projectId, String context); + + Stream readByProjectIdAndMappingStatusIn(String projectId, List statusList); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java index 98d34d0..b774495 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java @@ -12,4 +12,5 @@ public interface MappingRepository extends MongoRepository { Optional findByEntityId(String entityId); List findByOntologyTermIdsContains(String ontoTermId); + } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakerService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakerService.java index 58be5be..bc83507 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakerService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MatchmakerService.java @@ -1,8 +1,12 @@ package uk.ac.ebi.spot.ontotools.curation.service; import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; public interface MatchmakerService { void runMatchmaking(String sourceId, Project project); + + void autoMap(Entity entity, Project project, User user, String batchId); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java index 376af95..aec8c04 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java @@ -65,8 +65,8 @@ public void runMatchmaking(String sourceId, Project project) { log.info("[{}] Auto-mapping done in {}s", sourceId, (eTime - sTime) / 1000); } - - private void autoMap(Entity entity, Project project, User user, String batchId) { + @Override + public void autoMap(Entity entity, Project project, User user, String batchId) { if (entity.getMappingStatus().equals(EntityStatus.MANUALLY_MAPPED) || entity.getMappingStatus().equals(EntityStatus.AUTO_MAPPED)) { log.info("Entity [{}] has mapping status [{}]. Will not attempt re-mapping it.", entity.getName(), entity.getMappingStatus().name()); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ZoomaServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ZoomaServiceImpl.java index 220e2f0..34a7406 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ZoomaServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ZoomaServiceImpl.java @@ -64,16 +64,4 @@ public List annotate(String entityValue, List datasour } return new ArrayList<>(); } - - - /** - * TODO: Implement - * Scheduled task to periodically go through all entties and re-attempt mapping - * - * Whyy?? - */ - public void importZooma() { - - } - } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/tasks/MappingUpdateTask.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/tasks/MappingUpdateTask.java new file mode 100644 index 0000000..db9cd1d --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/tasks/MappingUpdateTask.java @@ -0,0 +1,76 @@ +package uk.ac.ebi.spot.ontotools.curation.tasks; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.boot.autoconfigure.condition.ConditionalOnProperty; +import org.springframework.scheduling.annotation.Scheduled; +import org.springframework.stereotype.Component; +import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.ProjectContext; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; +import uk.ac.ebi.spot.ontotools.curation.repository.EntityRepository; +import uk.ac.ebi.spot.ontotools.curation.repository.ProjectContextRepository; +import uk.ac.ebi.spot.ontotools.curation.repository.ProjectRepository; +import uk.ac.ebi.spot.ontotools.curation.service.MatchmakerService; +import uk.ac.ebi.spot.ontotools.curation.service.MatchmakingLogService; +import uk.ac.ebi.spot.ontotools.curation.service.UserService; + +import java.util.Arrays; +import java.util.List; +import java.util.stream.Stream; + +@Component +@ConditionalOnProperty(name = "ontotools.zooma.update-schedule.enabled", havingValue = "true") +public class MappingUpdateTask { + + private static final Logger log = LoggerFactory.getLogger(MappingUpdateTask.class); + + @Autowired + private ProjectRepository projectRepository; + + @Autowired + private EntityRepository entityRepository; + + @Autowired + private ProjectContextRepository projectContextRepository; + + @Autowired + private MatchmakingLogService matchmakingLogService; + + @Autowired + private UserService userService; + + @Autowired + private MatchmakerService matchmakerService; + + @Scheduled(cron = "${ontotools.zooma.update-schedule.pattern}") + public void updateMappings() { + log.info("Running mappings update ..."); + double sTime = System.currentTimeMillis(); + User robotUser = userService.retrieveRobotUser(); + + List projectList = projectRepository.findAll(); + int count = 1; + for (Project project : projectList) { + log.info("Updating project [{} of {}]: {}", count, projectList.size(), project.getName()); + List projectContexts = projectContextRepository.findByProjectId(project.getId()); + + String batchId = matchmakingLogService.createBatch(project.getId()); + project.setContexts(projectContexts); + + Stream entityStream = entityRepository.readByProjectIdAndMappingStatusIn(project.getId(), + Arrays.asList(new EntityStatus[]{EntityStatus.SUGGESTIONS_PROVIDED, EntityStatus.UNMAPPED})); + entityStream.forEach(entity -> matchmakerService.autoMap(entity, project, robotUser, batchId)); + entityStream.close(); + count++; + } + + double eTime = System.currentTimeMillis(); + double tTime = (eTime - sTime) / 1000; + log.info("Mappings update finalized in {}s.", tTime); + } + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/tasks/OLSUpdateTask.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTask.java similarity index 97% rename from src/main/java/uk/ac/ebi/spot/ontotools/curation/tasks/OLSUpdateTask.java rename to src/main/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTask.java index 44ef237..3d84dee 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/tasks/OLSUpdateTask.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTask.java @@ -24,9 +24,9 @@ @Component @ConditionalOnProperty(name = "ontotools.ols.update-schedule.enabled", havingValue = "true") -public class OLSUpdateTask { +public class OntologyTermUpdateTask { - private static final Logger log = LoggerFactory.getLogger(OLSUpdateTask.class); + private static final Logger log = LoggerFactory.getLogger(OntologyTermUpdateTask.class); /** * Scheduled task to periodically go through all local terms with status CURRENT | AWAITING_IMPORT or NEEDS_IMPORT diff --git a/src/main/resources/application.yml b/src/main/resources/application.yml index 3519950..f81525a 100644 --- a/src/main/resources/application.yml +++ b/src/main/resources/application.yml @@ -20,6 +20,9 @@ ontotools: base: http://www.ebi.ac.uk/spot/zooma/v2/api endpoints: annotate: /services/annotate + update-schedule: + enabled: false + pattern: 0 0 1 * * MON oxo: base: https://www.ebi.ac.uk/spot/oxo/api/search?size=5000 mapping-distance: 2 @@ -50,6 +53,9 @@ ontotools: ols: update-schedule: enabled: true + zooma: + update-schedule: + enabled: true --- diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/tasks/OLSUpdateTaskTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTaskTest.java similarity index 96% rename from src/test/java/uk/ac/ebi/spot/ontotools/curation/tasks/OLSUpdateTaskTest.java rename to src/test/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTaskTest.java index 93cbd8a..5f98100 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/tasks/OLSUpdateTaskTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTaskTest.java @@ -29,10 +29,10 @@ @ContextConfiguration(classes = {IntegrationTest.MockTaskExecutorConfig.class, IntegrationTest.MockOLSServiceConfig.class}) -public class OLSUpdateTaskTest extends IntegrationTest { +public class OntologyTermUpdateTaskTest extends IntegrationTest { @Autowired - private OLSUpdateTask olsUpdateTask; + private OntologyTermUpdateTask ontologyTermUpdateTask; @Autowired private OLSService olsService; @@ -75,7 +75,7 @@ public void setup() throws Exception { @Test public void shouldRunUpdate() { - olsUpdateTask.updateOntologyTerms(); + ontologyTermUpdateTask.updateOntologyTerms(); OntologyTerm ontologyTerm = ontologyTermRepository.findById(this.orphaTerm.getId()).get(); assertEquals(TermStatus.OBSOLETE.name(), ontologyTerm.getStatus()); From 25c9f373d256be71db3779f81cfacb0e59b6ddba Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Mon, 29 Mar 2021 22:49:08 +0800 Subject: [PATCH 62/72] WIP: Overhaul of the ontology term status setting. --- .../curation/domain/ProjectContext.java | 2 + .../curation/domain/mapping/OntologyTerm.java | 7 +-- .../domain/mapping/OntologyTermContext.java | 16 +++++++ .../repository/OntologyTermRepository.java | 4 +- .../rest/assembler/EntityDtoAssembler.java | 12 ++++- .../rest/assembler/MappingDtoAssembler.java | 12 ++++- .../MappingSuggestionDtoAssembler.java | 4 +- .../assembler/OntologyTermDtoAssembler.java | 17 +++++-- .../assembler/ProjectContextDtoAssembler.java | 13 +++++- .../rest/assembler/ProjectDtoAssembler.java | 9 +++- .../rest/controller/EntityController.java | 1 - .../rest/controller/MappingsController.java | 8 ++-- .../controller/OntologyTermController.java | 10 ++-- .../dto/mapping/OntologyTermCreationDto.java | 39 ++++++++++++++++ .../service/impl/EntityDataCollector.java | 11 +++-- .../service/impl/OntologyTermServiceImpl.java | 46 +++++++++++-------- .../tasks/OntologyTermUpdateTask.java | 5 +- .../ontotools/curation/util/CurationUtil.java | 15 ++++++ .../ontotools/curation/IntegrationTest.java | 17 ++++--- .../curation/MappingsControllerTest.java | 6 +-- .../ontotools/curation/MatchMakingTest.java | 5 +- .../curation/OntologyTermControllerTest.java | 17 ++++--- .../mapping/OntologyTermCreationDtoTest.java | 14 ++++++ .../tasks/OntologyTermUpdateTaskTest.java | 22 +++------ 24 files changed, 230 insertions(+), 82 deletions(-) create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/OntologyTermContext.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/OntologyTermCreationDto.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/OntologyTermCreationDtoTest.java diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ProjectContext.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ProjectContext.java index 09f409c..dbfc03f 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ProjectContext.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/ProjectContext.java @@ -50,4 +50,6 @@ public class ProjectContext { */ private List preferredMappingOntologies; + private List preferredMappingOntologiesLower; + } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/OntologyTerm.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/OntologyTerm.java index 9daf8ef..c5b9f32 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/OntologyTerm.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/OntologyTerm.java @@ -8,6 +8,8 @@ import org.springframework.data.mongodb.core.index.Indexed; import org.springframework.data.mongodb.core.mapping.Document; +import java.util.List; + @Document(collection = "ontologyTerms") @Getter @Setter @@ -28,13 +30,12 @@ public class OntologyTerm { private String label; - @Indexed - private String status; + private List contexts; private String description; private String crossRefs; - + @Override public String toString() { return curie + " (" + label + ")"; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/OntologyTermContext.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/OntologyTermContext.java new file mode 100644 index 0000000..1b89e48 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/OntologyTermContext.java @@ -0,0 +1,16 @@ +package uk.ac.ebi.spot.ontotools.curation.domain.mapping; + +import lombok.AllArgsConstructor; +import lombok.Getter; + +@AllArgsConstructor +@Getter +public class OntologyTermContext { + + private String projectId; + + private String context; + + private String status; + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java index 6bfd79a..afffb8d 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/OntologyTermRepository.java @@ -1,6 +1,7 @@ package uk.ac.ebi.spot.ontotools.curation.repository; import org.springframework.data.mongodb.repository.MongoRepository; +import org.springframework.data.mongodb.repository.Query; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; import java.util.List; @@ -16,5 +17,6 @@ public interface OntologyTermRepository extends MongoRepository findByCurieIn(List curies); - Stream readByStatusIn(List statusList); + @Query(value = "{}") + Stream findAllByCustomQueryAndStream(); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java index 25e3ac7..18e7d06 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/EntityDtoAssembler.java @@ -17,8 +17,16 @@ public class EntityDtoAssembler { public static EntityDto assemble(Entity entity, SourceDto source, Mapping mapping, List mappingSuggestions, List auditEntries) { - List mappingSuggestionDtos = mappingSuggestions != null ? mappingSuggestions.stream().map(MappingSuggestionDtoAssembler::assemble).collect(Collectors.toList()) : new ArrayList<>(); - MappingDto mappingDto = mapping != null ? MappingDtoAssembler.assemble(mapping) : null; + List mappingSuggestionDtos = new ArrayList<>(); + if (mappingSuggestions != null) { + for (MappingSuggestion mappingSuggestion : mappingSuggestions) { + mappingSuggestionDtos.add(MappingSuggestionDtoAssembler.assemble(mappingSuggestion, entity.getProjectId(), entity.getContext())); + } + } + MappingDto mappingDto = null; + if (mapping != null) { + mappingDto = MappingDtoAssembler.assemble(mapping, entity.getProjectId(), entity.getContext()); + } List auditTrail = auditEntries != null ? auditEntries.stream().map(AuditEntryDtoAssembler::assemble).collect(Collectors.toList()) : new ArrayList<>(); return new EntityDto(entity.getId(), diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java index 1f23f3d..221f7f2 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingDtoAssembler.java @@ -1,17 +1,25 @@ package uk.ac.ebi.spot.ontotools.curation.rest.assembler; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.OntologyTermDto; import java.util.ArrayList; +import java.util.List; import java.util.stream.Collectors; public class MappingDtoAssembler { - public static MappingDto assemble(Mapping mapping) { + public static MappingDto assemble(Mapping mapping, String projectId, String context) { + List ontologyTermDtos = new ArrayList<>(); + for (OntologyTerm ontologyTerm : mapping.getOntologyTerms()) { + ontologyTermDtos.add(OntologyTermDtoAssembler.assemble(ontologyTerm, projectId, context)); + } + return new MappingDto(mapping.getId(), mapping.getEntityId(), - mapping.getOntologyTerms().stream().map(OntologyTermDtoAssembler::assemble).collect(Collectors.toList()), + ontologyTermDtos, mapping.isReviewed(), mapping.getStatus(), mapping.getReviews() != null ? mapping.getReviews().stream().map(ReviewDtoAssembler::assemble).collect(Collectors.toList()) : new ArrayList<>(), diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingSuggestionDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingSuggestionDtoAssembler.java index 0c24800..01974dd 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingSuggestionDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/MappingSuggestionDtoAssembler.java @@ -5,10 +5,10 @@ public class MappingSuggestionDtoAssembler { - public static MappingSuggestionDto assemble(MappingSuggestion mappingSuggestion) { + public static MappingSuggestionDto assemble(MappingSuggestion mappingSuggestion, String projectId, String context) { return new MappingSuggestionDto(mappingSuggestion.getId(), mappingSuggestion.getEntityId(), - OntologyTermDtoAssembler.assemble(mappingSuggestion.getOntologyTerm()), + OntologyTermDtoAssembler.assemble(mappingSuggestion.getOntologyTerm(), projectId, context), ProvenanceDtoAssembler.assemble(mappingSuggestion.getCreated())); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/OntologyTermDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/OntologyTermDtoAssembler.java index 2363c82..2746c83 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/OntologyTermDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/OntologyTermDtoAssembler.java @@ -3,26 +3,35 @@ import org.apache.commons.codec.digest.DigestUtils; import uk.ac.ebi.spot.ontotools.curation.constants.TermStatus; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTermContext; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.OntologyTermDto; +import uk.ac.ebi.spot.ontotools.curation.util.CurationUtil; + +import java.util.Arrays; +import java.util.List; public class OntologyTermDtoAssembler { - public static OntologyTermDto assemble(OntologyTerm ontologyTerm) { + public static OntologyTermDto assemble(OntologyTerm ontologyTerm, String projectId, String context) { return new OntologyTermDto(ontologyTerm.getCurie(), ontologyTerm.getIri(), ontologyTerm.getLabel(), - ontologyTerm.getStatus(), + CurationUtil.termStatusForContext(ontologyTerm, projectId, context), ontologyTerm.getDescription(), ontologyTerm.getCrossRefs()); } - public static OntologyTerm disassemble(OntologyTermDto ontologyTerm) { + public static OntologyTerm disassemble(OntologyTermDto ontologyTerm, String projectId, String context) { + String status = ontologyTerm.getStatus() != null ? ontologyTerm.getStatus() : TermStatus.NEEDS_CREATION.name(); + List ontologyTermContexts = Arrays.asList(new OntologyTermContext[]{ + new OntologyTermContext(projectId, context, status) + }); return new OntologyTerm(null, ontologyTerm.getCurie(), ontologyTerm.getIri(), DigestUtils.sha256Hex(ontologyTerm.getIri()), ontologyTerm.getLabel(), - ontologyTerm.getStatus() != null ? ontologyTerm.getStatus() : TermStatus.NEEDS_IMPORT.name(), + ontologyTermContexts, ontologyTerm.getDescription(), ontologyTerm.getCrossRefs()); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectContextDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectContextDtoAssembler.java index d283de4..b450bba 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectContextDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectContextDtoAssembler.java @@ -3,6 +3,9 @@ import uk.ac.ebi.spot.ontotools.curation.domain.ProjectContext; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectContextDto; +import java.util.ArrayList; +import java.util.List; + public class ProjectContextDtoAssembler { public static ProjectContextDto assemble(ProjectContext projectContext) { @@ -14,12 +17,20 @@ public static ProjectContextDto assemble(ProjectContext projectContext) { } public static ProjectContext disassemble(ProjectContextDto projectContext) { + List preferredMappingLower = new ArrayList<>(); + if (projectContext.getPreferredMappingOntologies() != null) { + for (String entry : projectContext.getPreferredMappingOntologies()) { + preferredMappingLower.add(entry.toLowerCase()); + } + } + return new ProjectContext(null, projectContext.getName(), null, projectContext.getDescription(), projectContext.getDatasources(), projectContext.getOntologies(), - projectContext.getPreferredMappingOntologies()); + projectContext.getPreferredMappingOntologies(), + preferredMappingLower); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java index 5522329..d6bba4c 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/assembler/ProjectDtoAssembler.java @@ -9,6 +9,7 @@ import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; import java.util.ArrayList; +import java.util.List; import java.util.stream.Collectors; public class ProjectDtoAssembler { @@ -33,6 +34,12 @@ public static Project disassemble(ProjectDto project) { } public static Pair disassemble(ProjectCreationDto project, Provenance provenance) { + List preferredMappingLower = new ArrayList<>(); + if (project.getPreferredMappingOntologies() != null) { + for (String entry : project.getPreferredMappingOntologies()) { + preferredMappingLower.add(entry.toLowerCase()); + } + } return Pair.of(new Project(null, project.getName(), project.getDescription(), @@ -40,6 +47,6 @@ public static Pair disassemble(ProjectCreationDto proje new ArrayList<>(), provenance, null), new ProjectContext(null, CurationConstants.CONTEXT_DEFAULT, null, "Default context", - project.getDatasources(), project.getOntologies(), project.getPreferredMappingOntologies())); + project.getDatasources(), project.getOntologies(), project.getPreferredMappingOntologies(), preferredMappingLower)); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java index cea3d5e..8b313d3 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java @@ -78,7 +78,6 @@ public RestResponsePage getEntities(@PathVariable String projectId, @ Map> mappingSuggestions = mappingSuggestionsService.retrieveMappingSuggestionsForEntities(entityIds); log.info("Assembling results ..."); List entityDtos = new ArrayList<>(); - //auditEntryService.retrieveAuditEntries(entity.getId()) for (Entity entity : entities.getContent()) { entityDtos.add(EntityDtoAssembler.assemble(entity, sourceMap.get(entity.getSourceId()), mappings.get(entity.getId()), diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java index fa9ec36..a874fd3 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java @@ -70,7 +70,7 @@ public MappingDto getMapping(@PathVariable String projectId, @RequestParam(value if (mapping == null) { return null; } - return MappingDtoAssembler.assemble(mapping); + return MappingDtoAssembler.assemble(mapping, entity.getProjectId(), entity.getContext()); } /** @@ -93,7 +93,7 @@ public MappingDto createMapping(@PathVariable String projectId, @RequestBody @Va Mapping existingMapping = mappingService.retrieveMappingForEntity(entity.getId()); if (existingMapping != null) { log.warn("Entity [{}] already has a mapping.", entity.getName()); - return MappingDtoAssembler.assemble(existingMapping); + return MappingDtoAssembler.assemble(existingMapping, entity.getProjectId(), entity.getContext()); } List curies = mappingCreationDto.getOntologyTerms().stream().map(OntologyTermDto::getCurie).collect(Collectors.toList()); @@ -109,7 +109,7 @@ public MappingDto createMapping(@PathVariable String projectId, @RequestBody @Va */ entityService.updateMappingStatus(entity, EntityStatus.MANUALLY_MAPPED); - return MappingDtoAssembler.assemble(created); + return MappingDtoAssembler.assemble(created, entity.getProjectId(), entity.getContext()); } /** @@ -152,7 +152,7 @@ public MappingDto updateMapping(@PathVariable String projectId, @PathVariable St entityService.updateMappingStatus(entity, EntityStatus.MANUALLY_MAPPED); updated.setOntologyTerms(newTerms); - return MappingDtoAssembler.assemble(updated); + return MappingDtoAssembler.assemble(updated, entity.getProjectId(), entity.getContext()); } /** diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/OntologyTermController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/OntologyTermController.java index 9e683ce..02babbf 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/OntologyTermController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/OntologyTermController.java @@ -11,6 +11,7 @@ import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.rest.assembler.OntologyTermDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.OntologyTermCreationDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.OntologyTermDto; import uk.ac.ebi.spot.ontotools.curation.service.JWTService; import uk.ac.ebi.spot.ontotools.curation.service.OntologyTermService; @@ -44,12 +45,13 @@ public class OntologyTermController { consumes = MediaType.APPLICATION_JSON_VALUE, produces = MediaType.APPLICATION_JSON_VALUE) @ResponseStatus(HttpStatus.CREATED) - public OntologyTermDto createOntologyTerm(@PathVariable String projectId, @RequestBody @Valid OntologyTermDto ontologyTermDto, HttpServletRequest request) { + public OntologyTermDto createOntologyTerm(@PathVariable String projectId, @RequestBody @Valid OntologyTermCreationDto ontologyTermCreationDto, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); - log.info("[{}] Request to create ontology term: {} | {}", user.getEmail(), projectId, ontologyTermDto.getCurie()); + log.info("[{}] Request to create ontology term: {} | {}", user.getEmail(), projectId, ontologyTermCreationDto.getOntologyTerm().getCurie()); projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR})); - OntologyTerm created = ontologyTermService.createTerm(OntologyTermDtoAssembler.disassemble(ontologyTermDto)); - return OntologyTermDtoAssembler.assemble(created); + OntologyTerm created = ontologyTermService.createTerm(OntologyTermDtoAssembler.disassemble(ontologyTermCreationDto.getOntologyTerm(), projectId, + ontologyTermCreationDto.getContext())); + return OntologyTermDtoAssembler.assemble(created, projectId, ontologyTermCreationDto.getContext()); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/OntologyTermCreationDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/OntologyTermCreationDto.java new file mode 100644 index 0000000..5a8f63f --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/OntologyTermCreationDto.java @@ -0,0 +1,39 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import javax.validation.constraints.NotEmpty; +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class OntologyTermCreationDto implements Serializable { + + private static final long serialVersionUID = 4164035957804875140L; + + @NotEmpty + @JsonProperty("context") + private final String context; + + @NotEmpty + @JsonProperty("ontologyTerm") + private final OntologyTermDto ontologyTerm; + + @JsonCreator + public OntologyTermCreationDto(@JsonProperty("context") String context, + @JsonProperty("ontologyTerm") OntologyTermDto ontologyTerm) { + this.context = context; + this.ontologyTerm = ontologyTerm; + } + + public String getContext() { + return context; + } + + public OntologyTermDto getOntologyTerm() { + return ontologyTerm; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityDataCollector.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityDataCollector.java index 0f823bd..1f2affe 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityDataCollector.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityDataCollector.java @@ -6,6 +6,7 @@ import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.MappingSuggestion; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.rest.assembler.OntologyTermDtoAssembler; import uk.ac.ebi.spot.ontotools.curation.rest.assembler.ProvenanceDtoAssembler; import uk.ac.ebi.spot.ontotools.curation.rest.dto.export.ExportEntityDto; @@ -17,7 +18,6 @@ import java.io.IOException; import java.util.ArrayList; import java.util.List; -import java.util.stream.Collectors; import java.util.zip.ZipEntry; import java.util.zip.ZipOutputStream; @@ -39,14 +39,17 @@ public void add(Entity entity, Mapping mapping, List mappingS ExportMappingDto exportMappingDto = null; if (mapping != null) { - List ontologyTermDtos = mapping.getOntologyTerms().stream().map(OntologyTermDtoAssembler::assemble).collect(Collectors.toList()); + List ontologyTermDtos = new ArrayList<>(); + for (OntologyTerm ontologyTerm : mapping.getOntologyTerms()) { + ontologyTermDtos.add(OntologyTermDtoAssembler.assemble(ontologyTerm, projectId, entity.getContext())); + } exportMappingDto = new ExportMappingDto(ontologyTermDtos, mapping.isReviewed(), mapping.getStatus(), ProvenanceDtoAssembler.assemble(mapping.getCreated())); } if (mappingSuggestionList != null) { for (MappingSuggestion mappingSuggestion : mappingSuggestionList) { - mappingSuggestions.add(new ExportMappingSuggestionDto(OntologyTermDtoAssembler.assemble(mappingSuggestion.getOntologyTerm()), - ProvenanceDtoAssembler.assemble(mappingSuggestion.getCreated()))); + mappingSuggestions.add(new ExportMappingSuggestionDto(OntologyTermDtoAssembler.assemble(mappingSuggestion.getOntologyTerm(), + projectId, entity.getContext()), ProvenanceDtoAssembler.assemble(mappingSuggestion.getCreated()))); } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java index f7fcc45..93e7776 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java @@ -9,6 +9,7 @@ import uk.ac.ebi.spot.ontotools.curation.constants.TermStatus; import uk.ac.ebi.spot.ontotools.curation.domain.ProjectContext; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTermContext; import uk.ac.ebi.spot.ontotools.curation.exception.EntityNotFoundException; import uk.ac.ebi.spot.ontotools.curation.repository.OntologyTermRepository; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSTermDto; @@ -47,10 +48,16 @@ public OntologyTerm createTerm(OntologyTerm term) { public OntologyTerm createTerm(String iri, ProjectContext projectContext) { log.info("Creating term: {}", iri); try { + OntologyTerm ot = null; Optional ontologyTermOp = ontologyTermRepository.findByIriHash(DigestUtils.sha256Hex(iri)); if (ontologyTermOp.isPresent()) { - log.warn("Ontology term already exists: {} | {}", ontologyTermOp.get().getCurie(), ontologyTermOp.get().getLabel()); - return ontologyTermOp.get(); + String status = CurationUtil.termStatusForContext(ontologyTermOp.get(), projectContext.getProjectId(), projectContext.getName()); + if (status != null) { + log.warn("Ontology term already exists: {} | {} | {}", ontologyTermOp.get().getCurie(), ontologyTermOp.get().getLabel(), status); + return ontologyTermOp.get(); + } else { + ot = ontologyTermOp.get(); + } } List preferredOntoResponse = new ArrayList<>(); @@ -60,36 +67,39 @@ public OntologyTerm createTerm(String iri, ProjectContext projectContext) { List parentOntoResponse = new ArrayList<>(); String ontoId = CurationUtil.ontoFromIRI(iri); String termStatus; - if (!projectContext.getPreferredMappingOntologies().contains(ontoId.toLowerCase())) { + if (!projectContext.getPreferredMappingOntologiesLower().contains(ontoId.toLowerCase())) { parentOntoResponse = olsService.retrieveTerms(ontoId, iri); termStatus = parseStatus(preferredOntoResponse, parentOntoResponse, null); } else { termStatus = parseStatus(preferredOntoResponse, null, null); } - OntologyTerm ot; if (termStatus.equalsIgnoreCase(TermStatus.DELETED.name())) { - /** - * TODO: Discuss - * - * Previous code: - * ot = new OntologyTerm(null, "Not found", iri, DigestUtils.sha256Hex(iri), "Not found", MappingStatus.DELETED.name(), null, null); - */ log.warn("Found DELETED term: {}", iri); return null; } else { - if (termStatus.equalsIgnoreCase(TermStatus.CURRENT.name())) { - OLSTermDto olsTermDto = preferredOntoResponse.get(0); - ot = new OntologyTerm(null, olsTermDto.getCurie(), iri, - DigestUtils.sha256Hex(iri), olsTermDto.getLabel(), TermStatus.CURRENT.name(), null, null); + if (ot != null) { + if (ot.getContexts() == null) { + ot.setContexts(new ArrayList<>()); + } + } + + OntologyTermContext otc = new OntologyTermContext(projectContext.getProjectId(), projectContext.getName(), termStatus); + OLSTermDto olsTermDto = termStatus.equalsIgnoreCase(TermStatus.CURRENT.name()) ? preferredOntoResponse.get(0) : parentOntoResponse.get(0); + if (ot != null) { + ot.getContexts().add(otc); + ot = ontologyTermRepository.save(ot); + log.info("Updated ontology term [{} | {}]: {} | {} | {}", ot.getCurie(), ot.getLabel(), projectContext.getProjectId(), + projectContext.getName(), termStatus); } else { - OLSTermDto olsTermDto = parentOntoResponse.get(0); - ot = new OntologyTerm(null, olsTermDto.getCurie(), olsTermDto.getIri(), DigestUtils.sha256Hex(olsTermDto.getIri()), olsTermDto.getLabel(), termStatus, null, null); + ot = new OntologyTerm(null, olsTermDto.getCurie(), iri, + DigestUtils.sha256Hex(iri), olsTermDto.getLabel(), + Arrays.asList(new OntologyTermContext[]{otc}), null, null); + ot = ontologyTermRepository.insert(ot); + log.info("Created ontology term [{} | {}]: {}", ot.getCurie(), ot.getLabel(), ot.getId()); } } - ot = ontologyTermRepository.insert(ot); - log.info("Created ontology term [{} | {}]: {}", ot.getCurie(), ot.getLabel(), ot.getId()); return ot; } catch (Exception e) { log.error("ERROR: {}", e.getMessage(), e); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTask.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTask.java index 3d84dee..4e36815 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTask.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTask.java @@ -61,7 +61,7 @@ public void updateOntologyTerms() { OntologyTermUpdateLogBatch ontologyTermUpdateLogBatch = ontologyTermUpdateLogBatchRepository.insert(new OntologyTermUpdateLogBatch(null, DateTime.now(), 0)); - Stream ontologyTermStream = ontologyTermRepository.readByStatusIn(targetStatusList); + Stream ontologyTermStream = ontologyTermRepository.findAllByCustomQueryAndStream(); ontologyTermStream.forEach(ontologyTerm -> this.updateTerm(ontologyTerm, ontologyTermUpdateLogBatch.getId())); ontologyTermStream.close(); @@ -77,6 +77,7 @@ public void updateOntologyTerms() { */ private void updateTerm(OntologyTerm ontologyTerm, String batchId) { + /* String currentStatus = ontologyTerm.getStatus(); String newStatus = currentStatus; OLSTermDto olsTermDto = olsService.retrieveOriginalTerm(ontologyTerm.getIri()); @@ -96,5 +97,7 @@ private void updateTerm(OntologyTerm ontologyTerm, String batchId) { mappingService.updateStatusForObsoleteMappings(ontologyTerm.getId()); } + + */ } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java index 321bbe9..d181a66 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java @@ -5,6 +5,8 @@ import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.domain.ProjectContext; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTermContext; import java.util.ArrayList; import java.util.HashMap; @@ -92,4 +94,17 @@ public static Pair findContext(String contextName, Proj return Pair.of(projectContext, true); } + public static String termStatusForContext(OntologyTerm ontologyTerm, String projectId, String context) { + if (ontologyTerm.getContexts() == null) { + return null; + } + + for (OntologyTermContext ontologyTermContext : ontologyTerm.getContexts()) { + if (ontologyTermContext.getProjectId().equals(projectId) && + ontologyTermContext.getContext().equals(context)) { + return ontologyTermContext.getStatus(); + } + } + return null; + } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index adeed52..e1b343a 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -24,10 +24,7 @@ import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.auth.AuthToken; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; -import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; -import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; -import uk.ac.ebi.spot.ontotools.curation.domain.mapping.MappingSuggestion; -import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.*; import uk.ac.ebi.spot.ontotools.curation.repository.*; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectCreationDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; @@ -228,10 +225,16 @@ protected void createEntityTestData(String sourceId, String projectId, User user CurationConstants.CONTEXT_DEFAULT, sourceId, projectId, null, provenance, EntityStatus.AUTO_MAPPED)); OntologyTerm orphaTerm = ontologyTermRepository.insert(new OntologyTerm(null, "Orphanet:15", "http://www.orpha.net/ORDO/Orphanet_15", - DigestUtils.sha256Hex("http://www.orpha.net/ORDO/Orphanet_15"), "Achondroplasia", TermStatus.CURRENT.name(), null, null)); + DigestUtils.sha256Hex("http://www.orpha.net/ORDO/Orphanet_15"), "Achondroplasia", + Arrays.asList(new OntologyTermContext[]{ + new OntologyTermContext(TermStatus.CURRENT.name(), entity.getProjectId(), entity.getContext()) + }), null, null)); OntologyTerm mondoTerm = ontologyTermRepository.insert(new OntologyTerm(null, "MONDO:0007037", "http://purl.obolibrary.org/obo/MONDO_0007037", - DigestUtils.sha256Hex("http://purl.obolibrary.org/obo/MONDO_0007037"), "Achondroplasia", TermStatus.NEEDS_IMPORT.name(), null, null)); + DigestUtils.sha256Hex("http://purl.obolibrary.org/obo/MONDO_0007037"), "Achondroplasia", + Arrays.asList(new OntologyTermContext[]{ + new OntologyTermContext(TermStatus.CURRENT.name(), entity.getProjectId(), entity.getContext()) + }), null, null)); mappingSuggestionRepository.insert(new MappingSuggestion(null, entity.getId(), orphaTerm.getId(), projectId, provenance, null)); mappingSuggestionRepository.insert(new MappingSuggestion(null, entity.getId(), mondoTerm.getId(), projectId, provenance, null)); @@ -241,7 +244,7 @@ protected void createEntityTestData(String sourceId, String projectId, User user protected MappingDto retrieveMapping(String projectId) throws Exception { String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectId + - CurationConstants.API_MAPPINGS + "?" + CurationConstants.PARAM_ENTITY_ID + "=" + entity.getId(); + CurationConstants.API_MAPPINGS + "?" + CurationConstants.PARAM_ENTITY_ID + "=" + entity.getId(); String response = mockMvc.perform(get(endpoint) .contentType(MediaType.APPLICATION_JSON) .header(IDPConstants.JWT_TOKEN, "token1")) diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java index 5c80807..8107b90 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java @@ -72,7 +72,7 @@ public void shouldGetMappings() throws Exception { @Test public void shouldCreateMapping() throws Exception { OntologyTerm ontologyTerm = ontologyTermRepository.findByCurie("MONDO:0007037").get(); - OntologyTermDto ontologyTermDto = OntologyTermDtoAssembler.assemble(ontologyTerm); + OntologyTermDto ontologyTermDto = OntologyTermDtoAssembler.assemble(ontologyTerm, project.getId(), entity.getContext()); MappingCreationDto mappingCreationDto = new MappingCreationDto(entity.getId(), Arrays.asList(new OntologyTermDto[]{ontologyTermDto})); mappingRepository.deleteAll(); @@ -138,8 +138,8 @@ public void shouldCreateMapping() throws Exception { public void shouldUpdateMapping() throws Exception { MappingDto mappingDto = super.retrieveMapping(project.getId()); List ontologyTermDtos = new ArrayList<>(); - ontologyTermDtos.add(OntologyTermDtoAssembler.assemble(ontologyTermRepository.findByCurie("MONDO:0007037").get())); - ontologyTermDtos.add(OntologyTermDtoAssembler.assemble(ontologyTermRepository.findByCurie("Orphanet:15").get())); + ontologyTermDtos.add(OntologyTermDtoAssembler.assemble(ontologyTermRepository.findByCurie("MONDO:0007037").get(), project.getId(), entity.getContext())); + ontologyTermDtos.add(OntologyTermDtoAssembler.assemble(ontologyTermRepository.findByCurie("Orphanet:15").get(), project.getId(), entity.getContext())); MappingDto updated = new MappingDto(mappingDto.getId(), mappingDto.getEntityId(), diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java index dce2dba..0986310 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java @@ -20,6 +20,7 @@ import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; import uk.ac.ebi.spot.ontotools.curation.service.*; +import uk.ac.ebi.spot.ontotools.curation.util.CurationUtil; import java.util.Arrays; import java.util.HashMap; @@ -96,10 +97,10 @@ public void runMatchmakingTest() { for (OntologyTerm ontologyTerm : ontologyTerms) { ontoMap.put(ontologyTerm.getId(), ontologyTerm); if (ontologyTerm.getCurie().equalsIgnoreCase("Orphanet:15")) { - assertEquals(TermStatus.CURRENT.name(), ontologyTerm.getStatus()); + assertEquals(TermStatus.CURRENT.name(), CurationUtil.termStatusForContext(ontologyTerm, project.getId(), updated.getContext())); } if (ontologyTerm.getCurie().equalsIgnoreCase("MONDO:0007037")) { - assertEquals(TermStatus.NEEDS_IMPORT.name(), ontologyTerm.getStatus()); + assertEquals(TermStatus.NEEDS_IMPORT.name(), CurationUtil.termStatusForContext(ontologyTerm, project.getId(), updated.getContext())); } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntologyTermControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntologyTermControllerTest.java index 0921a68..8ca947e 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntologyTermControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntologyTermControllerTest.java @@ -11,6 +11,7 @@ import uk.ac.ebi.spot.ontotools.curation.constants.TermStatus; import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.OntologyTermCreationDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.OntologyTermDto; import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; import uk.ac.ebi.spot.ontotools.curation.service.UserService; @@ -51,25 +52,27 @@ public void setup() throws Exception { @Test public void shouldCreateOntologyTerm() throws Exception { OntologyTermDto toCreate = new OntologyTermDto("MONDO:0007037", "http://purl.obolibrary.org/obo/MONDO_0007037", - "Achondroplasia", null, null, null); + "Achondroplasia", TermStatus.NEEDS_CREATION.name(), null, null); + OntologyTermCreationDto payload = new OntologyTermCreationDto(CurationConstants.CONTEXT_DEFAULT, toCreate); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_ONTOLOGY_TERMS; String response = mockMvc.perform(post(endpoint) .contentType(MediaType.APPLICATION_JSON) - .content(mapper.writeValueAsString(toCreate)) + .content(mapper.writeValueAsString(payload)) .header(IDPConstants.JWT_TOKEN, "token1")) .andExpect(status().isCreated()) .andReturn() .getResponse() .getContentAsString(); - OntologyTermDto actual = mapper.readValue(response, new TypeReference() { + OntologyTermDto actual = mapper.readValue(response, new TypeReference<>() { }); assertEquals(toCreate.getLabel(), actual.getLabel()); assertEquals(toCreate.getCurie(), actual.getCurie()); assertEquals(toCreate.getIri(), actual.getIri()); - assertEquals(TermStatus.NEEDS_IMPORT.toString(), actual.getStatus()); + assertEquals(TermStatus.NEEDS_CREATION.toString(), actual.getStatus()); } @@ -80,11 +83,12 @@ public void shouldCreateOntologyTerm() throws Exception { public void shouldNotCreateOntologyTerm() throws Exception { OntologyTermDto toCreate = new OntologyTermDto("MONDO:0007037", "http://purl.obolibrary.org/obo/MONDO_0007037", "Achondroplasia", null, null, null); + OntologyTermCreationDto payload = new OntologyTermCreationDto(CurationConstants.CONTEXT_DEFAULT, toCreate); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_ONTOLOGY_TERMS; mockMvc.perform(post(endpoint) .contentType(MediaType.APPLICATION_JSON) - .content(mapper.writeValueAsString(toCreate)) + .content(mapper.writeValueAsString(payload)) .header(IDPConstants.JWT_TOKEN, "token2")) .andExpect(status().isNotFound()); } @@ -96,12 +100,13 @@ public void shouldNotCreateOntologyTerm() throws Exception { public void shouldNotCreateOntologyTermAsConsumer() throws Exception { OntologyTermDto toCreate = new OntologyTermDto("MONDO:0007037", "http://purl.obolibrary.org/obo/MONDO_0007037", "Achondroplasia", null, null, null); + OntologyTermCreationDto payload = new OntologyTermCreationDto(CurationConstants.CONTEXT_DEFAULT, toCreate); userService.addUserToProject(super.user2, project.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_ONTOLOGY_TERMS; mockMvc.perform(post(endpoint) .contentType(MediaType.APPLICATION_JSON) - .content(mapper.writeValueAsString(toCreate)) + .content(mapper.writeValueAsString(payload)) .header(IDPConstants.JWT_TOKEN, "token2")) .andExpect(status().isNotFound()); } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/OntologyTermCreationDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/OntologyTermCreationDtoTest.java new file mode 100644 index 0000000..c9422d8 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/mapping/OntologyTermCreationDtoTest.java @@ -0,0 +1,14 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class OntologyTermCreationDtoTest { + + @Test + public void equalsContract() { + EqualsVerifier.forClass(OntologyTermCreationDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTaskTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTaskTest.java index 5f98100..221257f 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTaskTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTaskTest.java @@ -1,32 +1,17 @@ package uk.ac.ebi.spot.ontotools.curation.tasks; -import org.apache.commons.codec.digest.DigestUtils; -import org.apache.commons.lang3.RandomStringUtils; -import org.joda.time.DateTime; +import org.junit.Ignore; import org.junit.Test; import org.springframework.beans.factory.annotation.Autowired; import org.springframework.test.context.ContextConfiguration; import uk.ac.ebi.spot.ontotools.curation.IntegrationTest; -import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; -import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; -import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; -import uk.ac.ebi.spot.ontotools.curation.constants.TermStatus; -import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; -import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.repository.EntityRepository; import uk.ac.ebi.spot.ontotools.curation.repository.OntologyTermRepository; import uk.ac.ebi.spot.ontotools.curation.repository.OntologyTermUpdateLogEntryRepository; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSTermDto; import uk.ac.ebi.spot.ontotools.curation.service.OLSService; -import java.util.ArrayList; -import java.util.Arrays; - -import static org.junit.Assert.assertEquals; -import static org.mockito.Mockito.*; - @ContextConfiguration(classes = {IntegrationTest.MockTaskExecutorConfig.class, IntegrationTest.MockOLSServiceConfig.class}) public class OntologyTermUpdateTaskTest extends IntegrationTest { @@ -55,6 +40,7 @@ public class OntologyTermUpdateTaskTest extends IntegrationTest { @Override public void setup() throws Exception { super.setup(); + /* this.orphaTerm = ontologyTermRepository.insert(new OntologyTerm(null, "Orphanet:15", "http://www.orpha.net/ORDO/Orphanet_15", DigestUtils.sha256Hex("http://www.orpha.net/ORDO/Orphanet_15"), "Achondroplasia", TermStatus.CURRENT.name(), null, null)); this.mondoTerm = ontologyTermRepository.insert(new OntologyTerm(null, "MONDO:0007037", "http://purl.obolibrary.org/obo/MONDO_0007037", @@ -71,10 +57,13 @@ public void setup() throws Exception { when(olsService.retrieveOriginalTerm(this.mondoTerm.getIri())).thenReturn(null); when(olsService.retrieveOriginalTerm(this.orphaTerm.getIri())).thenReturn(new OLSTermDto(this.orphaTerm.getIri(), this.orphaTerm.getCurie(), this.orphaTerm.getLabel(), true, true)); + */ } @Test + @Ignore public void shouldRunUpdate() { + /* ontologyTermUpdateTask.updateOntologyTerms(); OntologyTerm ontologyTerm = ontologyTermRepository.findById(this.orphaTerm.getId()).get(); @@ -89,5 +78,6 @@ public void shouldRunUpdate() { verify(olsService, times(1)).retrieveOriginalTerm(eq(this.mondoTerm.getIri())); verify(olsService, times(1)).retrieveOriginalTerm(eq(this.orphaTerm.getIri())); + */ } } \ No newline at end of file From 09dc73d92d7bfa6b6ca7ca5e9720705933683360 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Tue, 30 Mar 2021 22:14:31 +0800 Subject: [PATCH 63/72] Finalized: Overhaul of the ontology term status setting. --- .../service/impl/MatchmakerServiceImpl.java | 10 +- .../service/impl/OntologyTermServiceImpl.java | 2 +- .../curation/OntoTermContextStatusTest.java | 209 ++++++++++++++++++ 3 files changed, 217 insertions(+), 4 deletions(-) create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/OntoTermContextStatusTest.java diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java index aec8c04..2ff5713 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MatchmakerServiceImpl.java @@ -104,7 +104,7 @@ public void autoMap(Entity entity, Project project, User user, String batchId) { /** * Retain high confidence terms to attempt exact mapping. */ - if (zoomaResponseDto.getConfidence().equalsIgnoreCase(ZOOMA_CONFIDENCE_HIGH)) { + if (zoomaResponseDto.getConfidence().equalsIgnoreCase(ZOOMA_CONFIDENCE_HIGH) && !highConfidenceIRIs.contains(suggestedTermIRI)) { highConfidenceIRIs.add(suggestedTermIRI); } @@ -113,10 +113,14 @@ public void autoMap(Entity entity, Project project, User user, String batchId) { */ if (projectOntologies != null) { if (projectOntologies.contains(CurationUtil.ontoFromIRI(suggestedTermIRI).toLowerCase())) { - finalIRIs.add(suggestedTermIRI); + if (!finalIRIs.contains(suggestedTermIRI)) { + finalIRIs.add(suggestedTermIRI); + } } } else { - finalIRIs.add(suggestedTermIRI); + if (!finalIRIs.contains(suggestedTermIRI)) { + finalIRIs.add(suggestedTermIRI); + } } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java index 93e7776..ece33ae 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java @@ -92,7 +92,7 @@ public OntologyTerm createTerm(String iri, ProjectContext projectContext) { log.info("Updated ontology term [{} | {}]: {} | {} | {}", ot.getCurie(), ot.getLabel(), projectContext.getProjectId(), projectContext.getName(), termStatus); } else { - ot = new OntologyTerm(null, olsTermDto.getCurie(), iri, + ot = new OntologyTerm(null, olsTermDto.getCurie(), olsTermDto.getIri(), DigestUtils.sha256Hex(iri), olsTermDto.getLabel(), Arrays.asList(new OntologyTermContext[]{otc}), null, null); ot = ontologyTermRepository.insert(ot); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntoTermContextStatusTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntoTermContextStatusTest.java new file mode 100644 index 0000000..4c6de0d --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntoTermContextStatusTest.java @@ -0,0 +1,209 @@ +package uk.ac.ebi.spot.ontotools.curation; + +import org.apache.commons.lang3.RandomStringUtils; +import org.joda.time.DateTime; +import org.junit.Test; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.test.context.ContextConfiguration; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; +import uk.ac.ebi.spot.ontotools.curation.constants.TermStatus; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.ProjectContext; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; +import uk.ac.ebi.spot.ontotools.curation.domain.config.ExternalServiceConfig; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTermContext; +import uk.ac.ebi.spot.ontotools.curation.repository.ExternalServiceConfigRepository; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSTermDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.zooma.ZoomaResponseDto; +import uk.ac.ebi.spot.ontotools.curation.service.*; +import uk.ac.ebi.spot.ontotools.curation.util.CurationUtil; + +import java.util.*; + +import static org.junit.Assert.assertEquals; +import static org.junit.Assert.assertTrue; +import static org.mockito.ArgumentMatchers.any; +import static org.mockito.ArgumentMatchers.eq; +import static org.mockito.Mockito.when; + +@ContextConfiguration(classes = {IntegrationTest.MockTaskExecutorConfig.class, + IntegrationTest.MockZoomaServiceConfig.class, + IntegrationTest.MockOLSServiceConfig.class}) +public class OntoTermContextStatusTest extends IntegrationTest { + + @Autowired + private ExternalServiceConfigRepository externalServiceConfigRepository; + + @Autowired + private EntityService entityService; + + @Autowired + private ProjectService projectService; + + @Autowired + private UserService userService; + + @Autowired + private MatchmakerService matchmakerService; + + @Autowired + private OntologyTermService ontologyTermService; + + private List datasources; + + private List ontologies; + + @Autowired + private ZoomaService zoomaService; + + @Autowired + private OLSService olsService; + + @Override + public void setup() throws Exception { + super.setup(); + externalServiceConfigRepository.insert(new ExternalServiceConfig(null, "OLS", Arrays.asList(new String[]{"orphanet::ordo"}))); + externalServiceConfigRepository.insert(new ExternalServiceConfig(null, "OXO", Arrays.asList(new String[]{"ordo::orphanet"}))); + + this.datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); + this.ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); + } + + /** + * Test case: + * - Match 2 entities from 2 projects annotated with the same term. + * -- Expected: term should have 2 contexts + */ + @Test + public void testCase1() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1", datasources, ontologies, "efo", 0); + + user1 = userService.findByEmail(user1.getEmail()); + Project project1 = projectService.retrieveProject(projectDto.getId(), user1); + SourceDto sourceDto1 = super.createSource(project1.getId()); + Provenance provenance = new Provenance(user1.getName(), user1.getEmail(), DateTime.now()); + Entity entity1 = entityService.createEntity(new Entity(null, "Achondroplasia", RandomStringUtils.randomAlphabetic(10), + CurationConstants.CONTEXT_DEFAULT, sourceDto1.getId(), project1.getId(), 10, provenance, EntityStatus.UNMAPPED)); + + projectDto = super.createProject("New Project 2", "token1", datasources, ontologies, "efo", 0); + user1 = userService.findByEmail(user1.getEmail()); + Project project2 = projectService.retrieveProject(projectDto.getId(), user1); + SourceDto sourceDto2 = super.createSource(project2.getId()); + Entity entity2 = entityService.createEntity(new Entity(null, "Achondroplasia", RandomStringUtils.randomAlphabetic(10), + CurationConstants.CONTEXT_DEFAULT, sourceDto2.getId(), project2.getId(), 10, provenance, EntityStatus.UNMAPPED)); + + String iri1 = "http://www.orpha.net/ORDO/Orphanet_15"; + + List zoomaResponseDtos = new ArrayList<>(); + zoomaResponseDtos.add(new ZoomaResponseDto(Arrays.asList(new String[]{iri1}), "HIGH")); + when(zoomaService.annotate(eq(entity1.getName()), any(), any())).thenReturn(zoomaResponseDtos); + when(zoomaService.annotate(eq(entity2.getName()), any(), any())).thenReturn(zoomaResponseDtos); + + when(olsService.retrieveTerms(eq(CurationUtil.ontoFromIRI(iri1)), eq(iri1))).thenReturn( + Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri1, "Orphanet:15", "Achondroplasia", false, true)}) + ); + + matchmakerService.runMatchmaking(sourceDto1.getId(), project1); + matchmakerService.runMatchmaking(sourceDto2.getId(), project2); + + Entity updated = entityService.retrieveEntity(entity1.getId()); + assertEquals(EntityStatus.AUTO_MAPPED, updated.getMappingStatus()); + + updated = entityService.retrieveEntity(entity2.getId()); + assertEquals(EntityStatus.AUTO_MAPPED, updated.getMappingStatus()); + + List ontologyTerms = ontologyTermService.retrieveAllTerms(); + assertEquals(1, ontologyTerms.size()); + OntologyTerm ontologyTerm = ontologyTerms.get(0); + assertEquals(2, ontologyTerm.getContexts().size()); + + Map projectMap = new HashMap<>(); + for (OntologyTermContext ontologyTermContext : ontologyTerm.getContexts()) { + projectMap.put(ontologyTermContext.getProjectId(), ""); + } + + assertEquals(2, projectMap.size()); + assertTrue(projectMap.containsKey(project1.getId())); + assertTrue(projectMap.containsKey(project2.getId())); + for (OntologyTermContext ontologyTermContext : ontologyTerm.getContexts()) { + if (ontologyTermContext.getProjectId().equalsIgnoreCase(project1.getId())) { + assertEquals(CurationConstants.CONTEXT_DEFAULT, ontologyTermContext.getContext()); + assertEquals(TermStatus.NEEDS_IMPORT.name(), ontologyTermContext.getStatus()); + } + if (ontologyTermContext.getProjectId().equalsIgnoreCase(project2.getId())) { + assertEquals(CurationConstants.CONTEXT_DEFAULT, ontologyTermContext.getContext()); + assertEquals(TermStatus.NEEDS_IMPORT.name(), ontologyTermContext.getStatus()); + } + } + } + + /** + * Test case: + * - Match 1 entity from 1 project in 2 different contexts annotated with the same term. + * -- Expected: term should have 2 contexts + */ + @Test + public void testCase2() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", "token1", datasources, ontologies, "efo", 0); + user1 = userService.findByEmail(user1.getEmail()); + + Project project = projectService.retrieveProject(projectDto.getId(), user1); + SourceDto sourceDto1 = super.createSource(project.getId()); + SourceDto sourceDto2 = super.createSource(project.getId()); + Provenance provenance = new Provenance(user1.getName(), user1.getEmail(), DateTime.now()); + projectService.createProjectContext(new ProjectContext(null, "SECOND", project.getId(), "Description", + datasources, ontologies, Arrays.asList(new String[]{"Orphanet"}), Arrays.asList(new String[]{"orphanet"})), project.getId(), user1); + project = projectService.retrieveProject(projectDto.getId(), user1); + + Entity entity1 = entityService.createEntity(new Entity(null, "Achondroplasia", RandomStringUtils.randomAlphabetic(10), + CurationConstants.CONTEXT_DEFAULT, sourceDto1.getId(), project.getId(), 10, provenance, EntityStatus.UNMAPPED)); + Entity entity2 = entityService.createEntity(new Entity(null, "Achondroplasia", RandomStringUtils.randomAlphabetic(10), + "SECOND", sourceDto2.getId(), project.getId(), 10, provenance, EntityStatus.UNMAPPED)); + + String iri1 = "http://www.orpha.net/ORDO/Orphanet_15"; + + List zoomaResponseDtos = new ArrayList<>(); + zoomaResponseDtos.add(new ZoomaResponseDto(Arrays.asList(new String[]{iri1}), "HIGH")); + when(zoomaService.annotate(eq(entity1.getName()), any(), any())).thenReturn(zoomaResponseDtos); + when(zoomaService.annotate(eq(entity2.getName()), any(), any())).thenReturn(zoomaResponseDtos); + + when(olsService.retrieveTerms(eq(CurationUtil.ontoFromIRI(iri1)), eq(iri1))).thenReturn( + Arrays.asList(new OLSTermDto[]{new OLSTermDto(iri1, "Orphanet:15", "Achondroplasia", false, true)}) + ); + + matchmakerService.runMatchmaking(sourceDto1.getId(), project); + matchmakerService.runMatchmaking(sourceDto2.getId(), project); + + Entity updated = entityService.retrieveEntity(entity1.getId()); + assertEquals(EntityStatus.AUTO_MAPPED, updated.getMappingStatus()); + + updated = entityService.retrieveEntity(entity2.getId()); + assertEquals(EntityStatus.AUTO_MAPPED, updated.getMappingStatus()); + + List ontologyTerms = ontologyTermService.retrieveAllTerms(); + assertEquals(1, ontologyTerms.size()); + OntologyTerm ontologyTerm = ontologyTerms.get(0); + assertEquals(2, ontologyTerm.getContexts().size()); + + Map projectMap = new HashMap<>(); + for (OntologyTermContext ontologyTermContext : ontologyTerm.getContexts()) { + projectMap.put(ontologyTermContext.getProjectId(), ""); + } + + assertEquals(1, projectMap.size()); + assertTrue(projectMap.containsKey(project.getId())); + for (OntologyTermContext ontologyTermContext : ontologyTerm.getContexts()) { + if (ontologyTermContext.getProjectId().equalsIgnoreCase(project.getId()) && ontologyTermContext.getContext().equals(CurationConstants.CONTEXT_DEFAULT)) { + assertEquals(TermStatus.NEEDS_IMPORT.name(), ontologyTermContext.getStatus()); + } + if (ontologyTermContext.getProjectId().equalsIgnoreCase(project.getId()) && ontologyTermContext.getContext().equals("SECOND")) { + assertEquals(TermStatus.CURRENT.name(), ontologyTermContext.getStatus()); + } + } + } +} From 1442cf28ba8c8cdf99c85a29eed5fe9982a34252 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Tue, 30 Mar 2021 22:16:30 +0800 Subject: [PATCH 64/72] Added gitignore. --- .gitignore | 3 +++ 1 file changed, 3 insertions(+) create mode 100644 .gitignore diff --git a/.gitignore b/.gitignore new file mode 100644 index 0000000..21a5f21 --- /dev/null +++ b/.gitignore @@ -0,0 +1,3 @@ +/target/ +/log/ +/.idea/ From 8703440884bf0a8643b9f0767397b95eea61ce31 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Wed, 31 Mar 2021 21:20:05 +0800 Subject: [PATCH 65/72] Added support for free-text search on entity and user names. --- .../curation/constants/CurationConstants.java | 2 + .../ontotools/curation/domain/auth/User.java | 2 + .../curation/domain/mapping/Entity.java | 2 + .../curation/repository/EntityRepository.java | 3 ++ .../curation/repository/UserRepository.java | 5 ++ .../rest/controller/EntityController.java | 8 ++-- .../curation/service/EntityService.java | 2 +- .../service/impl/EntityServiceImpl.java | 7 +-- .../curation/EntityControllerTest.java | 46 +++++++++++++++++++ .../ontotools/curation/IntegrationTest.java | 2 +- 10 files changed, 71 insertions(+), 8 deletions(-) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java index 8a87a95..cf71295 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java @@ -34,6 +34,8 @@ public class CurationConstants { public static final String PARAM_ENTITY_ID = "entityId"; + public static final String PARAM_SEARCH = "search"; + public static final String PARAM_QUERY = "query"; public static final String ZOOMA_CONFIDENCE_HIGH = "HIGH"; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/User.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/User.java index 8d6f707..54b5514 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/User.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/auth/User.java @@ -6,6 +6,7 @@ import lombok.Setter; import org.springframework.data.annotation.Id; import org.springframework.data.mongodb.core.index.Indexed; +import org.springframework.data.mongodb.core.index.TextIndexed; import org.springframework.data.mongodb.core.mapping.Document; import java.util.List; @@ -20,6 +21,7 @@ public class User { @Id private String id; + @TextIndexed private String name; @Indexed diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Entity.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Entity.java index 4bdf432..512de42 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Entity.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Entity.java @@ -8,6 +8,7 @@ import org.springframework.data.mongodb.core.index.CompoundIndex; import org.springframework.data.mongodb.core.index.CompoundIndexes; import org.springframework.data.mongodb.core.index.Indexed; +import org.springframework.data.mongodb.core.index.TextIndexed; import org.springframework.data.mongodb.core.mapping.Document; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; @@ -25,6 +26,7 @@ public class Entity { @Id private String id; + @TextIndexed private String name; private String baseId; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java index 2a32f50..0c7f41b 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java @@ -2,6 +2,7 @@ import org.springframework.data.domain.Page; import org.springframework.data.domain.Pageable; +import org.springframework.data.mongodb.core.query.TextCriteria; import org.springframework.data.mongodb.repository.MongoRepository; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; @@ -20,4 +21,6 @@ public interface EntityRepository extends MongoRepository { Stream readByProjectIdAndContext(String projectId, String context); Stream readByProjectIdAndMappingStatusIn(String projectId, List statusList); + + Page findByNameLikeIgnoreCase(String prefix, Pageable pageable); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/UserRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/UserRepository.java index 343e516..b97f73d 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/UserRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/UserRepository.java @@ -1,5 +1,7 @@ package uk.ac.ebi.spot.ontotools.curation.repository; +import org.springframework.data.domain.Page; +import org.springframework.data.domain.Pageable; import org.springframework.data.mongodb.repository.MongoRepository; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; @@ -13,4 +15,7 @@ public interface UserRepository extends MongoRepository { List findBySuperUser(boolean superUser); List findByRoles_ProjectId(String projectId); + + Page findByNameLikeIgnoreCase(String prefix, Pageable pageable); + } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java index 8b313d3..b740755 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java @@ -57,12 +57,14 @@ public class EntityController { private AuditEntryService auditEntryService; /** - * GET /v1/projects/{projectId}/entities + * GET /v1/projects/{projectId}/entities?search= */ @GetMapping(value = "/{projectId}" + CurationConstants.API_ENTITIES, produces = MediaType.APPLICATION_JSON_VALUE) @ResponseStatus(HttpStatus.OK) - public RestResponsePage getEntities(@PathVariable String projectId, @PageableDefault(size = 20, page = 0) Pageable pageable, HttpServletRequest request) { + public RestResponsePage getEntities(@PathVariable String projectId, + @RequestParam(value = CurationConstants.PARAM_SEARCH, required = false) String prefix, + @PageableDefault(size = 20, page = 0) Pageable pageable, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to retrieve entities: {}", user.getEmail(), projectId); projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR, ProjectRole.CONSUMER})); @@ -72,7 +74,7 @@ public RestResponsePage getEntities(@PathVariable String projectId, @ sourceMap.put(source.getId(), SourceDtoAssembler.assemble(source)); } - Page entities = entityService.retrieveEntitiesForProject(projectId, pageable); + Page entities = entityService.retrieveEntitiesForProject(projectId, prefix, pageable); List entityIds = entities.get().map(Entity::getId).collect(Collectors.toList()); Map mappings = mappingService.retrieveMappingsForEntities(entityIds); Map> mappingSuggestions = mappingSuggestionsService.retrieveMappingSuggestionsForEntities(entityIds); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java index a7449d7..3b0def9 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java @@ -19,7 +19,7 @@ public interface EntityService { Entity updateMappingStatus(Entity entity, EntityStatus mappingStatus); - Page retrieveEntitiesForProject(String projectId, Pageable page); + Page retrieveEntitiesForProject(String projectId, String prefix, Pageable page); Entity retrieveEntity(String entityId); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java index d074846..23d7f47 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java @@ -57,9 +57,10 @@ public Entity updateMappingStatus(Entity entity, EntityStatus mappingStatus) { } @Override - public Page retrieveEntitiesForProject(String projectId, Pageable page) { - log.debug("Retrieving entities for {} sources: {} | {}", projectId, page.getPageNumber(), page.getPageSize()); - Page entityPage = entityRepository.findByProjectId(projectId, page); + public Page retrieveEntitiesForProject(String projectId, String prefix, Pageable page) { + log.debug("Retrieving entities [{}]: {} | {}", projectId, prefix, page.getPageNumber(), page.getPageSize()); + Page entityPage = prefix == null ? entityRepository.findByProjectId(projectId, page) : + entityRepository.findByNameLikeIgnoreCase(prefix, page); log.debug("Found {} entities.", entityPage.getContent().size()); return entityPage; } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java index e867294..cece7e1 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java @@ -1,6 +1,8 @@ package uk.ac.ebi.spot.ontotools.curation; import com.fasterxml.jackson.core.type.TypeReference; +import org.apache.commons.lang3.RandomStringUtils; +import org.joda.time.DateTime; import org.junit.Test; import org.springframework.beans.factory.annotation.Autowired; import org.springframework.http.MediaType; @@ -10,6 +12,8 @@ import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.rest.dto.EntityDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.RestResponsePage; @@ -95,6 +99,48 @@ public void shouldGetEntities() throws Exception { assertEquals(sourceDto.getId(), actual.getSource().getId()); } + /** + * GET /v1/projects/{projectId}/entities?search= + */ + @Test + public void shouldGetEntitiesByPrefixSearch() throws Exception { + super.entityRepository.insert(new Entity(null, "Achonparestesia", RandomStringUtils.randomAlphabetic(10), + CurationConstants.CONTEXT_DEFAULT, sourceDto.getId(), project.getId(), null, + new Provenance(user1.getName(), user1.getEmail(), DateTime.now()), EntityStatus.AUTO_MAPPED)); + + String prefix = "chon"; + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_ENTITIES + + "?" + CurationConstants.PARAM_SEARCH + "=" + prefix; + String response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + RestResponsePage entitiesPage = mapper.readValue(response, new TypeReference<>() { + }); + assertEquals(2, entitiesPage.getTotalElements()); + + prefix = "achond"; + endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_ENTITIES + + "?" + CurationConstants.PARAM_SEARCH + "=" + prefix; + response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + entitiesPage = mapper.readValue(response, new TypeReference<>() { + }); + assertEquals(1, entitiesPage.getTotalElements()); + EntityDto actual = entitiesPage.getContent().get(0); + assertEquals("Achondroplasia", actual.getName()); + } + /** * GET /v1/projects/{projectId}/entities/{entityId} */ diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index e1b343a..03d9254 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -111,7 +111,7 @@ public OLSService olsService() { protected MappingRepository mappingRepository; @Autowired - private EntityRepository entityRepository; + protected EntityRepository entityRepository; @Autowired protected UserService userService; From 26ba36724c9a7c2973a6b99684216271c1c7affb Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Wed, 31 Mar 2021 22:51:13 +0800 Subject: [PATCH 66/72] Fixed ontoterm update task. --- .../log/OntologyTermUpdateLogEntry.java | 4 + .../curation/domain/mapping/Mapping.java | 5 +- .../repository/MappingRepository.java | 1 + .../curation/service/MappingService.java | 2 +- .../curation/service/OntologyTermService.java | 2 + .../service/impl/MappingServiceImpl.java | 6 +- .../service/impl/OntologyTermServiceImpl.java | 17 +++ .../tasks/OntologyTermUpdateTask.java | 100 ++++++++++++------ .../ontotools/curation/IntegrationTest.java | 2 +- .../tasks/OntologyTermUpdateTaskTest.java | 90 +++++++++++----- 10 files changed, 167 insertions(+), 62 deletions(-) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/log/OntologyTermUpdateLogEntry.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/log/OntologyTermUpdateLogEntry.java index 06f9b4b..e7ce0f0 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/log/OntologyTermUpdateLogEntry.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/log/OntologyTermUpdateLogEntry.java @@ -23,6 +23,10 @@ public class OntologyTermUpdateLogEntry { private String ontoTermLabel; + private String projectId; + + private String context; + private String previousStatus; private String newStatus; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java index a36b75c..daf584c 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/domain/mapping/Mapping.java @@ -22,7 +22,8 @@ @Setter @AllArgsConstructor @NoArgsConstructor -@CompoundIndexes({@CompoundIndex(name = "eoId", def = "{'entityId': 1, 'ontologyTermIds': 1}")}) +@CompoundIndexes({@CompoundIndex(name = "eoId", def = "{'entityId': 1, 'ontologyTermIds': 1}"), + @CompoundIndex(name = "pco", def = "{'projectId': 1, 'context': 1, 'ontologyTermIds': 1}")}) public class Mapping { @Id @@ -31,6 +32,8 @@ public class Mapping { @Indexed private String entityId; + private String context; + @Indexed private List ontologyTermIds; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java index b774495..104b959 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/MappingRepository.java @@ -13,4 +13,5 @@ public interface MappingRepository extends MongoRepository { List findByOntologyTermIdsContains(String ontoTermId); + List findByProjectIdAndContextAndOntologyTermIdsContains(String projectId, String context, String ontoTermId); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java index bd4cb9a..ff74c96 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/MappingService.java @@ -27,5 +27,5 @@ public interface MappingService { void deleteMapping(String mappingId, Provenance provenance, List metadata); - void updateStatusForObsoleteMappings(String ontologyTermId); + void updateStatusForObsoleteMappings(String ontologyTermId, String projectId, String context); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java index 023d41d..aff6743 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/OntologyTermService.java @@ -20,4 +20,6 @@ public interface OntologyTermService { OntologyTerm retrieveTermById(String ontologyTermId); List retrieveTermByCuries(List curies); + + String retrieveStatusUpdate(String iri, ProjectContext projectContext, String previousStatus); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java index b5db75f..0e9fd94 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/MappingServiceImpl.java @@ -41,7 +41,7 @@ public class MappingServiceImpl implements MappingService { public Mapping createMapping(Entity entity, List ontologyTerms, Provenance provenance) { log.info("Creating mapping for entity [{}]: {}", entity.getName(), ontologyTerms); List ontologyTermIds = ontologyTerms.stream().map(OntologyTerm::getId).collect(Collectors.toList()); - Mapping created = mappingRepository.insert(new Mapping(null, entity.getId(), ontologyTermIds, entity.getProjectId(), + Mapping created = mappingRepository.insert(new Mapping(null, entity.getId(), entity.getContext(), ontologyTermIds, entity.getProjectId(), false, new ArrayList<>(), new ArrayList<>(), MappingStatus.AWAITING_REVIEW.name(), provenance, null)); created.setOntologyTerms(ontologyTerms); @@ -103,8 +103,8 @@ public void deleteMapping(String mappingId, Provenance provenance, List mappings = mappingRepository.findByOntologyTermIdsContains(ontologyTermId); + public void updateStatusForObsoleteMappings(String ontologyTermId, String projectId, String context) { + List mappings = mappingRepository.findByProjectIdAndContextAndOntologyTermIdsContains(projectId, context, ontologyTermId); for (Mapping mapping : mappings) { mapping.setStatus(MappingStatus.HAS_OBSOLETE_TERM.name()); mappingRepository.save(mapping); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java index ece33ae..5f448d3 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/OntologyTermServiceImpl.java @@ -108,6 +108,23 @@ public OntologyTerm createTerm(String iri, ProjectContext projectContext) { return null; } + @Override + public String retrieveStatusUpdate(String iri, ProjectContext projectContext, String previousStatus) { + List preferredOntoResponse = new ArrayList<>(); + for (String preferredOntology : projectContext.getPreferredMappingOntologies()) { + preferredOntoResponse.addAll(olsService.retrieveTerms(preferredOntology, iri)); + } + String ontoId = CurationUtil.ontoFromIRI(iri); + String termStatus; + if (!projectContext.getPreferredMappingOntologiesLower().contains(ontoId.toLowerCase())) { + List parentOntoResponse = olsService.retrieveTerms(ontoId, iri); + termStatus = parseStatus(preferredOntoResponse, parentOntoResponse, previousStatus); + } else { + termStatus = parseStatus(preferredOntoResponse, null, previousStatus); + } + return termStatus; + } + @Override public Map retrieveTerms(List ontologyTermIds) { log.info("Retrieving {} ontology terms.", ontologyTermIds.size()); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTask.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTask.java index 4e36815..0369b2c 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTask.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTask.java @@ -8,18 +8,19 @@ import org.springframework.scheduling.annotation.Scheduled; import org.springframework.stereotype.Component; import uk.ac.ebi.spot.ontotools.curation.constants.TermStatus; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.ProjectContext; import uk.ac.ebi.spot.ontotools.curation.domain.log.OntologyTermUpdateLogBatch; import uk.ac.ebi.spot.ontotools.curation.domain.log.OntologyTermUpdateLogEntry; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTermContext; import uk.ac.ebi.spot.ontotools.curation.repository.OntologyTermRepository; import uk.ac.ebi.spot.ontotools.curation.repository.OntologyTermUpdateLogBatchRepository; import uk.ac.ebi.spot.ontotools.curation.repository.OntologyTermUpdateLogEntryRepository; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSTermDto; -import uk.ac.ebi.spot.ontotools.curation.service.MappingService; -import uk.ac.ebi.spot.ontotools.curation.service.OLSService; +import uk.ac.ebi.spot.ontotools.curation.service.*; -import java.util.Arrays; -import java.util.List; +import java.util.*; import java.util.stream.Stream; @Component @@ -48,21 +49,26 @@ public class OntologyTermUpdateTask { @Autowired private MappingService mappingService; + @Autowired + private ProjectService projectService; + + @Autowired + private UserService userService; + + @Autowired + private OntologyTermService ontologyTermService; + @Scheduled(cron = "${ontotools.ols.update-schedule.pattern}") public void updateOntologyTerms() { log.info("Running ontology terms update ..."); double sTime = System.currentTimeMillis(); - List targetStatusList = Arrays.asList(new String[]{ - TermStatus.CURRENT.name(), - TermStatus.AWAITING_IMPORT.name(), - TermStatus.NEEDS_IMPORT.name(), - TermStatus.NEEDS_CREATION.name() - }); - OntologyTermUpdateLogBatch ontologyTermUpdateLogBatch = ontologyTermUpdateLogBatchRepository.insert(new OntologyTermUpdateLogBatch(null, DateTime.now(), 0)); + List projects = projectService.retrieveProjects(userService.retrieveRobotUser()); + Map> projectConfig = prepareProjectConfig(projects); + Stream ontologyTermStream = ontologyTermRepository.findAllByCustomQueryAndStream(); - ontologyTermStream.forEach(ontologyTerm -> this.updateTerm(ontologyTerm, ontologyTermUpdateLogBatch.getId())); + ontologyTermStream.forEach(ontologyTerm -> this.updateTerm(ontologyTerm, projectConfig, ontologyTermUpdateLogBatch.getId())); ontologyTermStream.close(); double eTime = System.currentTimeMillis(); @@ -72,32 +78,62 @@ public void updateOntologyTerms() { log.info("Ontology terms update finalized in {}s.", tTime); } - /** - * TODO: Fix this to cater for transitions starting from NEEDS_IMPORT / AWAITING_IMPORT into CURRENT - */ + private Map> prepareProjectConfig(List projects) { + Map> result = new LinkedHashMap<>(); - private void updateTerm(OntologyTerm ontologyTerm, String batchId) { - /* - String currentStatus = ontologyTerm.getStatus(); - String newStatus = currentStatus; - OLSTermDto olsTermDto = olsService.retrieveOriginalTerm(ontologyTerm.getIri()); - if (olsTermDto == null) { - newStatus = TermStatus.DELETED.name(); - } else { - if (olsTermDto.getObsolete() != null && olsTermDto.getObsolete()) { - newStatus = TermStatus.OBSOLETE.name(); + for (Project project : projects) { + Map contextMap = new LinkedHashMap<>(); + for (ProjectContext projectContext : project.getContexts()) { + contextMap.put(projectContext.getName(), projectContext); } + result.put(project.getId(), contextMap); } - if (!currentStatus.equalsIgnoreCase(newStatus)) { - ontologyTermUpdateLogEntryRepository.insert(new OntologyTermUpdateLogEntry(null, batchId, ontologyTerm.getId(), - ontologyTerm.getCurie(), ontologyTerm.getLabel(), currentStatus, newStatus)); - ontologyTerm.setStatus(newStatus); - ontologyTermRepository.save(ontologyTerm); + return result; + } - mappingService.updateStatusForObsoleteMappings(ontologyTerm.getId()); + private void updateTerm(OntologyTerm ontologyTerm, Map> projectConfig, String batchId) { + Map deletedTerms = new LinkedHashMap<>(); + Map toUpdate = new LinkedHashMap<>(); + + for (OntologyTermContext ontologyTermContext : ontologyTerm.getContexts()) { + String currentStatus = ontologyTermContext.getStatus(); + String newStatus = ontologyTermService.retrieveStatusUpdate(ontologyTerm.getIri(), + projectConfig.get(ontologyTermContext.getProjectId()).get(ontologyTermContext.getContext()), currentStatus); + + if (!newStatus.equalsIgnoreCase(currentStatus)) { + toUpdate.put(ontologyTermContext.getProjectId() + "::" + ontologyTermContext.getContext(), newStatus); + + if (newStatus.equalsIgnoreCase(TermStatus.DELETED.name())) { + deletedTerms.put(ontologyTermContext.getProjectId(), ontologyTermContext.getContext()); + } + } } - */ + if (!toUpdate.isEmpty()) { + List newContexts = new ArrayList<>(); + for (OntologyTermContext ontologyTermContext : ontologyTerm.getContexts()) { + if (toUpdate.containsKey(ontologyTermContext.getProjectId() + "::" + ontologyTermContext.getContext())) { + String newStatus = toUpdate.get(ontologyTermContext.getProjectId() + "::" + ontologyTermContext.getContext()); + newContexts.add(new OntologyTermContext(ontologyTermContext.getProjectId(), + ontologyTermContext.getContext(), newStatus)); + + ontologyTermUpdateLogEntryRepository.insert(new OntologyTermUpdateLogEntry(null, batchId, ontologyTerm.getId(), + ontologyTerm.getCurie(), ontologyTerm.getLabel(), ontologyTermContext.getProjectId(), + ontologyTermContext.getContext(), ontologyTermContext.getStatus(), newStatus)); + } else { + newContexts.add(ontologyTermContext); + } + } + + ontologyTerm.setContexts(newContexts); + ontologyTermRepository.save(ontologyTerm); + } + + if (!deletedTerms.isEmpty()) { + for (String projectId : deletedTerms.keySet()) { + mappingService.updateStatusForObsoleteMappings(ontologyTerm.getId(), projectId, deletedTerms.get(projectId)); + } + } } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index 03d9254..030f591 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -238,7 +238,7 @@ protected void createEntityTestData(String sourceId, String projectId, User user mappingSuggestionRepository.insert(new MappingSuggestion(null, entity.getId(), orphaTerm.getId(), projectId, provenance, null)); mappingSuggestionRepository.insert(new MappingSuggestion(null, entity.getId(), mondoTerm.getId(), projectId, provenance, null)); - orphaTermMapping = mappingRepository.insert(new Mapping(null, entity.getId(), Arrays.asList(new String[]{orphaTerm.getId()}), + orphaTermMapping = mappingRepository.insert(new Mapping(null, entity.getId(), entity.getContext(), Arrays.asList(new String[]{orphaTerm.getId()}), projectId, false, new ArrayList<>(), new ArrayList<>(), MappingStatus.AWAITING_REVIEW.name(), provenance, null)); } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTaskTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTaskTest.java index 221257f..0172641 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTaskTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTaskTest.java @@ -1,21 +1,49 @@ package uk.ac.ebi.spot.ontotools.curation.tasks; -import org.junit.Ignore; +import org.apache.commons.codec.digest.DigestUtils; +import org.apache.commons.lang3.RandomStringUtils; +import org.joda.time.DateTime; import org.junit.Test; import org.springframework.beans.factory.annotation.Autowired; import org.springframework.test.context.ContextConfiguration; import uk.ac.ebi.spot.ontotools.curation.IntegrationTest; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; +import uk.ac.ebi.spot.ontotools.curation.constants.MappingStatus; +import uk.ac.ebi.spot.ontotools.curation.constants.TermStatus; +import uk.ac.ebi.spot.ontotools.curation.domain.Project; +import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; +import uk.ac.ebi.spot.ontotools.curation.domain.config.ExternalServiceConfig; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Mapping; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; -import uk.ac.ebi.spot.ontotools.curation.repository.EntityRepository; +import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTermContext; +import uk.ac.ebi.spot.ontotools.curation.repository.ExternalServiceConfigRepository; import uk.ac.ebi.spot.ontotools.curation.repository.OntologyTermRepository; import uk.ac.ebi.spot.ontotools.curation.repository.OntologyTermUpdateLogEntryRepository; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ols.OLSTermDto; +import uk.ac.ebi.spot.ontotools.curation.service.EntityService; import uk.ac.ebi.spot.ontotools.curation.service.OLSService; +import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; +import uk.ac.ebi.spot.ontotools.curation.util.CurationUtil; + +import java.util.ArrayList; +import java.util.Arrays; +import java.util.List; + +import static org.junit.Assert.assertEquals; +import static org.mockito.Mockito.eq; +import static org.mockito.Mockito.when; @ContextConfiguration(classes = {IntegrationTest.MockTaskExecutorConfig.class, IntegrationTest.MockOLSServiceConfig.class}) public class OntologyTermUpdateTaskTest extends IntegrationTest { + @Autowired + private ExternalServiceConfigRepository externalServiceConfigRepository; + @Autowired private OntologyTermUpdateTask ontologyTermUpdateTask; @@ -29,7 +57,10 @@ public class OntologyTermUpdateTaskTest extends IntegrationTest { private OntologyTermUpdateLogEntryRepository ontologyTermUpdateLogEntryRepository; @Autowired - private EntityRepository entityRepository; + private EntityService entityService; + + @Autowired + private ProjectService projectService; private OntologyTerm orphaTerm; @@ -40,44 +71,55 @@ public class OntologyTermUpdateTaskTest extends IntegrationTest { @Override public void setup() throws Exception { super.setup(); - /* + + externalServiceConfigRepository.insert(new ExternalServiceConfig(null, "OLS", Arrays.asList(new String[]{"orphanet::ordo"}))); + externalServiceConfigRepository.insert(new ExternalServiceConfig(null, "OXO", Arrays.asList(new String[]{"ordo::orphanet"}))); + + List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); + List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); + + ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "mondo", 0); + user1 = userService.findByEmail(user1.getEmail()); + Project project = projectService.retrieveProject(projectDto.getId(), user1); + SourceDto sourceDto = super.createSource(project.getId()); + Provenance provenance = new Provenance(user1.getName(), user1.getEmail(), DateTime.now()); + this.orphaTerm = ontologyTermRepository.insert(new OntologyTerm(null, "Orphanet:15", "http://www.orpha.net/ORDO/Orphanet_15", - DigestUtils.sha256Hex("http://www.orpha.net/ORDO/Orphanet_15"), "Achondroplasia", TermStatus.CURRENT.name(), null, null)); + DigestUtils.sha256Hex("http://www.orpha.net/ORDO/Orphanet_15"), "Achondroplasia", + Arrays.asList(new OntologyTermContext[]{ + new OntologyTermContext(project.getId(), CurationConstants.CONTEXT_DEFAULT, TermStatus.CURRENT.name()) + }), null, null)); + this.mondoTerm = ontologyTermRepository.insert(new OntologyTerm(null, "MONDO:0007037", "http://purl.obolibrary.org/obo/MONDO_0007037", - DigestUtils.sha256Hex("http://purl.obolibrary.org/obo/MONDO_0007037"), "Achondroplasia", TermStatus.NEEDS_IMPORT.name(), null, null)); + DigestUtils.sha256Hex("http://purl.obolibrary.org/obo/MONDO_0007037"), "Achondroplasia", Arrays.asList(new OntologyTermContext[]{ + new OntologyTermContext(project.getId(), CurationConstants.CONTEXT_DEFAULT, TermStatus.NEEDS_IMPORT.name()) + }), null, null)); - Entity entity = entityRepository.insert(new Entity(null, "Achondroplasia", RandomStringUtils.randomAlphabetic(10), - CurationConstants.CONTEXT_DEFAULT, RandomStringUtils.randomAlphabetic(10), RandomStringUtils.randomAlphabetic(10), - null, new Provenance(user1.getName(), user1.getEmail(), DateTime.now()), EntityStatus.AUTO_MAPPED)); + entity = entityService.createEntity(new Entity(null, "Achondroplasia", RandomStringUtils.randomAlphabetic(10), + CurationConstants.CONTEXT_DEFAULT, sourceDto.getId(), project.getId(), 10, provenance, EntityStatus.UNMAPPED)); - mapping = mappingRepository.insert(new Mapping(null, entity.getId(), Arrays.asList(new String[]{orphaTerm.getId()}), + mapping = mappingRepository.insert(new Mapping(null, entity.getId(), entity.getContext(), Arrays.asList(new String[]{orphaTerm.getId()}), entity.getProjectId(), false, new ArrayList<>(), new ArrayList<>(), MappingStatus.AWAITING_REVIEW.name(), new Provenance(user1.getName(), user1.getEmail(), DateTime.now()), null)); - when(olsService.retrieveOriginalTerm(this.mondoTerm.getIri())).thenReturn(null); - when(olsService.retrieveOriginalTerm(this.orphaTerm.getIri())).thenReturn(new OLSTermDto(this.orphaTerm.getIri(), - this.orphaTerm.getCurie(), this.orphaTerm.getLabel(), true, true)); - */ + when(olsService.retrieveTerms(eq(CurationUtil.ontoFromIRI(orphaTerm.getIri())), eq(orphaTerm.getIri()))).thenReturn(new ArrayList<>()); + when(olsService.retrieveTerms(eq("mondo"), eq(mondoTerm.getIri()))).thenReturn( + Arrays.asList(new OLSTermDto[]{new OLSTermDto(mondoTerm.getIri(), "MONDO:0007037", "Achondroplasia", false, true)}) + ); } @Test - @Ignore public void shouldRunUpdate() { - /* ontologyTermUpdateTask.updateOntologyTerms(); OntologyTerm ontologyTerm = ontologyTermRepository.findById(this.orphaTerm.getId()).get(); - assertEquals(TermStatus.OBSOLETE.name(), ontologyTerm.getStatus()); - - ontologyTerm = ontologyTermRepository.findById(this.mondoTerm.getId()).get(); - assertEquals(TermStatus.DELETED.name(), ontologyTerm.getStatus()); - assertEquals(2, ontologyTermUpdateLogEntryRepository.findAll().size()); + assertEquals(TermStatus.DELETED.name(), ontologyTerm.getContexts().get(0).getStatus()); Mapping newMapping = mappingRepository.findById(mapping.getId()).get(); assertEquals(MappingStatus.HAS_OBSOLETE_TERM.name(), newMapping.getStatus()); - verify(olsService, times(1)).retrieveOriginalTerm(eq(this.mondoTerm.getIri())); - verify(olsService, times(1)).retrieveOriginalTerm(eq(this.orphaTerm.getIri())); - */ + ontologyTerm = ontologyTermRepository.findById(this.mondoTerm.getId()).get(); + assertEquals(TermStatus.CURRENT.name(), ontologyTerm.getContexts().get(0).getStatus()); + assertEquals(2, ontologyTermUpdateLogEntryRepository.findAll().size()); } } \ No newline at end of file From d3346a9481108f9037d0cb69531cf90b00a95413 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Thu, 1 Apr 2021 22:01:15 +0800 Subject: [PATCH 67/72] Revamped project and user management. --- .../rest/controller/EntityController.java | 2 +- .../rest/controller/MappingsController.java | 2 +- .../controller/OntologyTermController.java | 2 +- ...oller.java => ProjectUsersController.java} | 4 +- .../rest/controller/ProjectsController.java | 14 +- .../controller/ProjectsUtilController.java | 2 +- .../rest/controller/UsersController.java | 72 ++++ .../curation/rest/dto/UserCreationDto.java | 39 ++ .../curation/service/UserService.java | 6 + .../service/impl/ProjectServiceImpl.java | 3 + .../service/impl/UserServiceImpl.java | 17 + .../ontotools/curation/util/CurationUtil.java | 12 + .../curation/AuditTrailControllerTest.java | 2 +- .../ontotools/curation/DataImportTest.java | 2 +- .../curation/EntityControllerTest.java | 2 +- .../ontotools/curation/IntegrationTest.java | 6 +- .../MappingCommentsControllerTest.java | 2 +- .../MappingReviewsControllerTest.java | 2 +- .../curation/MappingsControllerTest.java | 2 +- .../curation/MatchMakingContolledTest.java | 2 +- .../ontotools/curation/MatchMakingTest.java | 2 +- .../curation/OntoTermContextStatusTest.java | 6 +- .../curation/OntologyTermControllerTest.java | 2 +- .../ProjectContextsControllerTest.java | 2 +- .../curation/ProjectUsersControllerTest.java | 408 ++++++++++++++++++ .../curation/ProjectsControllerTest.java | 57 ++- .../curation/ProjectsUtilControllerTest.java | 2 +- .../curation/PublicDataControllerTest.java | 2 +- .../curation/SourcesControllerTest.java | 2 +- .../curation/UsersControllerTest.java | 380 ++-------------- .../rest/dto/UserCreationDtoTest.java | 13 + .../tasks/OntologyTermUpdateTaskTest.java | 2 +- 32 files changed, 677 insertions(+), 396 deletions(-) rename src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/{UserManagementController.java => ProjectUsersController.java} (98%) create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/UsersController.java create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/UserCreationDto.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectUsersControllerTest.java create mode 100644 src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/UserCreationDtoTest.java diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java index b740755..36a1b3f 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java @@ -33,7 +33,7 @@ @RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) public class EntityController { - private static final Logger log = LoggerFactory.getLogger(ProjectsController.class); + private static final Logger log = LoggerFactory.getLogger(EntityController.class); @Autowired private JWTService jwtService; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java index a874fd3..efd7570 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/MappingsController.java @@ -35,7 +35,7 @@ @RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) public class MappingsController { - private static final Logger log = LoggerFactory.getLogger(ProjectsController.class); + private static final Logger log = LoggerFactory.getLogger(MappingsController.class); @Autowired private JWTService jwtService; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/OntologyTermController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/OntologyTermController.java index 02babbf..907d451 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/OntologyTermController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/OntologyTermController.java @@ -27,7 +27,7 @@ @RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) public class OntologyTermController { - private static final Logger log = LoggerFactory.getLogger(ProjectsController.class); + private static final Logger log = LoggerFactory.getLogger(OntologyTermController.class); @Autowired private JWTService jwtService; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/UserManagementController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectUsersController.java similarity index 98% rename from src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/UserManagementController.java rename to src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectUsersController.java index dbb2cd8..794522d 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/UserManagementController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectUsersController.java @@ -27,9 +27,9 @@ @RestController @RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) -public class UserManagementController { +public class ProjectUsersController { - private static final Logger log = LoggerFactory.getLogger(ProjectsController.class); + private static final Logger log = LoggerFactory.getLogger(ProjectUsersController.class); @Autowired private JWTService jwtService; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java index 52e7fe6..3005756 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsController.java @@ -12,6 +12,7 @@ import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.exception.AuthorizationException; import uk.ac.ebi.spot.ontotools.curation.rest.assembler.ProjectDtoAssembler; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectCreationDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; @@ -50,9 +51,12 @@ public class ProjectsController { @ResponseStatus(HttpStatus.CREATED) public ProjectDto createProject(@RequestBody @Valid ProjectCreationDto projectCreationDto, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + if (!user.isSuperUser()) { + log.error("Attempt to create a project by a non-super user: {}", user.getEmail()); + throw new AuthorizationException("Attempt to create a project by a non-super user: " + user.getEmail()); + } log.info("[{}] Request to create project: {}", user.getEmail(), projectCreationDto.getName()); Project created = projectService.createProject(ProjectDtoAssembler.disassemble(projectCreationDto, new Provenance(user.getName(), user.getEmail(), DateTime.now())), user); - userService.addUserToProject(user, created.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN})); return ProjectDtoAssembler.assemble(created); } @@ -92,6 +96,10 @@ public ProjectDto getProject(@PathVariable String projectId, HttpServletRequest @ResponseStatus(HttpStatus.OK) public ProjectDto updateProject(@RequestBody @Valid ProjectDto projectDto, @PathVariable String projectId, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + if (!user.isSuperUser()) { + log.error("Attempt to create a project by a non-super user: {}", user.getEmail()); + throw new AuthorizationException("Attempt to create a project by a non-super user: " + user.getEmail()); + } log.info("[{}] Request to update project [{}]: {}", user.getEmail(), projectId, projectDto.getName()); Project updated = projectService.updateProject(ProjectDtoAssembler.disassemble(projectDto), projectId, user); return ProjectDtoAssembler.assemble(updated); @@ -105,6 +113,10 @@ public ProjectDto updateProject(@RequestBody @Valid ProjectDto projectDto, @Path @ResponseStatus(HttpStatus.OK) public void deleteProject(@PathVariable String projectId, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + if (!user.isSuperUser()) { + log.error("Attempt to create a project by a non-super user: {}", user.getEmail()); + throw new AuthorizationException("Attempt to create a project by a non-super user: " + user.getEmail()); + } log.info("[{}] Request to delete project: {}", user.getEmail(), projectId); projectService.deleteProject(projectId, user); userService.removeProjectFromUser(user, projectId); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsUtilController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsUtilController.java index d7fc19b..06c62c1 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsUtilController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/ProjectsUtilController.java @@ -21,7 +21,7 @@ @RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS) public class ProjectsUtilController { - private static final Logger log = LoggerFactory.getLogger(ProjectsController.class); + private static final Logger log = LoggerFactory.getLogger(ProjectsUtilController.class); @Autowired private JWTService jwtService; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/UsersController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/UsersController.java new file mode 100644 index 0000000..881b43c --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/UsersController.java @@ -0,0 +1,72 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.controller; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.data.domain.Page; +import org.springframework.data.domain.Pageable; +import org.springframework.data.web.PageableDefault; +import org.springframework.http.HttpStatus; +import org.springframework.http.MediaType; +import org.springframework.web.bind.annotation.*; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; +import uk.ac.ebi.spot.ontotools.curation.exception.AuthorizationException; +import uk.ac.ebi.spot.ontotools.curation.rest.assembler.UserDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.RestResponsePage; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.UserCreationDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.UserDto; +import uk.ac.ebi.spot.ontotools.curation.service.JWTService; +import uk.ac.ebi.spot.ontotools.curation.service.UserService; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; +import uk.ac.ebi.spot.ontotools.curation.util.CurationUtil; +import uk.ac.ebi.spot.ontotools.curation.util.HeadersUtil; + +import javax.servlet.http.HttpServletRequest; +import javax.validation.Valid; +import java.util.stream.Collectors; + +@RestController +@RequestMapping(value = GeneralCommon.API_V1 + CurationConstants.API_USERS) +public class UsersController { + + private static final Logger log = LoggerFactory.getLogger(UsersController.class); + + @Autowired + private JWTService jwtService; + + @Autowired + private UserService userService; + + /** + * GET /v1/users?search= + */ + @GetMapping(produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.OK) + public RestResponsePage getUsers(@RequestParam(value = CurationConstants.PARAM_SEARCH, required = false) String prefix, + @PageableDefault(size = 20, page = 0) Pageable pageable, + HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to retrieve users: {}", user.getEmail(), prefix); + Page users = userService.retrieveUsers(prefix, pageable); + return new RestResponsePage<>(users.stream().map(UserDtoAssembler::assemble).collect(Collectors.toList()), pageable, users.getTotalElements()); + } + + /** + * POST /v1/users + */ + @PostMapping(consumes = MediaType.APPLICATION_JSON_VALUE, + produces = MediaType.APPLICATION_JSON_VALUE) + @ResponseStatus(HttpStatus.CREATED) + public UserDto createUser(@RequestBody @Valid UserCreationDto userCreationDto, HttpServletRequest request) { + User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); + log.info("[{}] Request to create user: {} | {}", user.getEmail(), userCreationDto.getName(), userCreationDto.getEmail()); + if (user.isSuperUser() || CurationUtil.isAdmin(user)) { + User created = userService.createUser(userCreationDto.getName(), userCreationDto.getEmail()); + return UserDtoAssembler.assemble(created); + } + + log.error("Attempt to create a user by an unauthorized user: {}", user.getEmail()); + throw new AuthorizationException("Attempt to create a user by an unauthorized user: " + user.getEmail()); + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/UserCreationDto.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/UserCreationDto.java new file mode 100644 index 0000000..ed8e872 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/UserCreationDto.java @@ -0,0 +1,39 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import com.fasterxml.jackson.annotation.JsonCreator; +import com.fasterxml.jackson.annotation.JsonInclude; +import com.fasterxml.jackson.annotation.JsonProperty; +import lombok.EqualsAndHashCode; + +import javax.validation.constraints.NotNull; +import java.io.Serializable; + +@EqualsAndHashCode +@JsonInclude(JsonInclude.Include.NON_NULL) +public final class UserCreationDto implements Serializable { + + private static final long serialVersionUID = -7756602971327722980L; + + @NotNull + @JsonProperty("name") + private final String name; + + @NotNull + @JsonProperty("email") + private final String email; + + @JsonCreator + public UserCreationDto(@JsonProperty("name") String name, + @JsonProperty("email") String email) { + this.name = name; + this.email = email; + } + + public String getName() { + return name; + } + + public String getEmail() { + return email; + } +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/UserService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/UserService.java index da4d0c4..aebdb11 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/UserService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/UserService.java @@ -1,5 +1,7 @@ package uk.ac.ebi.spot.ontotools.curation.service; +import org.springframework.data.domain.Page; +import org.springframework.data.domain.Pageable; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; @@ -21,4 +23,8 @@ public interface UserService { User updateUserRoles(User targetUser, String projectId, List projectRoles); User findById(String userId); + + Page retrieveUsers(String prefix, Pageable pageable); + + User createUser(String name, String email); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java index 12ff90a..6c472e2 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/ProjectServiceImpl.java @@ -189,6 +189,9 @@ public void verifyAccess(String projectId, User user, List roles) { } private boolean hasAccess(User user, String projectId, List roles) { + if (user.isSuperUser()) { + return true; + } if (user.getRoles() != null) { for (Role role : user.getRoles()) { if (role.getProjectId().equals(projectId) && roles.contains(role.getRole())) { diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/UserServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/UserServiceImpl.java index 500803f..d07df7d 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/UserServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/UserServiceImpl.java @@ -3,6 +3,8 @@ import org.slf4j.Logger; import org.slf4j.LoggerFactory; import org.springframework.beans.factory.annotation.Autowired; +import org.springframework.data.domain.Page; +import org.springframework.data.domain.Pageable; import org.springframework.stereotype.Service; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; import uk.ac.ebi.spot.ontotools.curation.domain.auth.Role; @@ -129,6 +131,21 @@ public User findById(String userId) { return userOptional.get(); } + @Override + public Page retrieveUsers(String prefix, Pageable page) { + log.info("Retrieving users: {}", prefix); + Page userPage = prefix == null ? userRepository.findAll(page) : userRepository.findByNameLikeIgnoreCase(prefix, page); + return userPage; + } + + @Override + public User createUser(String name, String email) { + log.info("Creating user: {} | {}", name, email); + User created = userRepository.insert(new User(null, name, email, new ArrayList<>(), false)); + log.info("User [{}] created: {}", email, created.getId()); + return created; + } + @Override public void removeProjectFromUser(User targetUser, String projectId) { User existing = this.findByEmail(targetUser.getEmail()); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java index d181a66..d300657 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/util/CurationUtil.java @@ -5,6 +5,8 @@ import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.domain.ProjectContext; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.Role; +import uk.ac.ebi.spot.ontotools.curation.domain.auth.User; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTerm; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.OntologyTermContext; @@ -107,4 +109,14 @@ public static String termStatusForContext(OntologyTerm ontologyTerm, String proj } return null; } + + public static boolean isAdmin(User user) { + for (Role role : user.getRoles()) { + if (role.getRole().equals(ProjectRole.ADMIN)) { + return true; + } + } + + return false; + } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/AuditTrailControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/AuditTrailControllerTest.java index 7947a8f..c3cd087 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/AuditTrailControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/AuditTrailControllerTest.java @@ -40,7 +40,7 @@ public void setup() throws Exception { super.setup(); List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); - ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo", 0); + ProjectDto projectDto = super.createProject("New Project", user1, datasources, ontologies, "efo", 0); user1 = userService.findByEmail(user1.getEmail()); project = projectService.retrieveProject(projectDto.getId(), user1); sourceDto = super.createSource(project.getId()); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/DataImportTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/DataImportTest.java index 674fe36..84e7e4f 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/DataImportTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/DataImportTest.java @@ -43,7 +43,7 @@ public class DataImportTest extends IntegrationTest { @Override public void setup() throws Exception { super.setup(); - projectDto = super.createProject("New Project", "token1", null, null, null, 0); + projectDto = super.createProject("New Project", user1, null, null, null, 0); sourceDto = super.createSource(projectDto.getId()); doNothing().when(matchmakerService).runMatchmaking(eq(sourceDto.getId()), any()); } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java index cece7e1..bf33d70 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java @@ -49,7 +49,7 @@ public void setup() throws Exception { super.setup(); List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); - ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo", 0); + ProjectDto projectDto = super.createProject("New Project", user1, datasources, ontologies, "efo", 0); user1 = userService.findByEmail(user1.getEmail()); project = projectService.retrieveProject(projectDto.getId(), user1); sourceDto = super.createSource(project.getId()); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java index 030f591..ef21ff6 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/IntegrationTest.java @@ -151,7 +151,7 @@ public void destroy() { mongoTemplate.getDb().drop(); } - protected ProjectDto createProject(String name, String token, + protected ProjectDto createProject(String name, User adminUser, List datasources, List ontologies, String preferredMappingOntology, int noReviewsRequired) throws Exception { String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS; @@ -164,7 +164,7 @@ protected ProjectDto createProject(String name, String token, String response = mockMvc.perform(post(endpoint) .contentType(MediaType.APPLICATION_JSON) .content(mapper.writeValueAsString(projectCreationDto)) - .header(IDPConstants.JWT_TOKEN, token)) + .header(IDPConstants.JWT_TOKEN, "supertoken")) .andExpect(status().isCreated()) .andReturn() .getResponse() @@ -192,6 +192,8 @@ protected ProjectDto createProject(String name, String token, if (preferredMappingOntology != null) { assertEquals(preferredMappingOntology, actual.getContexts().get(0).getPreferredMappingOntologies().get(0)); } + + userService.addUserToProject(adminUser, actual.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN})); return actual; } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingCommentsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingCommentsControllerTest.java index 8d92142..3f156b5 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingCommentsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingCommentsControllerTest.java @@ -48,7 +48,7 @@ public void setup() throws Exception { super.setup(); List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); - ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo", 0); + ProjectDto projectDto = super.createProject("New Project", user1, datasources, ontologies, "efo", 0); user1 = userService.findByEmail(user1.getEmail()); project = projectService.retrieveProject(projectDto.getId(), user1); sourceDto = super.createSource(project.getId()); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java index 9f1541c..9a80d9b 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingReviewsControllerTest.java @@ -48,7 +48,7 @@ public void setup() throws Exception { super.setup(); List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); - ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo", 3); + ProjectDto projectDto = super.createProject("New Project", user1, datasources, ontologies, "efo", 3); user1 = userService.findByEmail(user1.getEmail()); project = projectService.retrieveProject(projectDto.getId(), user1); sourceDto = super.createSource(project.getId()); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java index 8107b90..b194b2d 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MappingsControllerTest.java @@ -48,7 +48,7 @@ public void setup() throws Exception { super.setup(); List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); - ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo", 0); + ProjectDto projectDto = super.createProject("New Project", user1, datasources, ontologies, "efo", 0); user1 = userService.findByEmail(user1.getEmail()); project = projectService.retrieveProject(projectDto.getId(), user1); sourceDto = super.createSource(project.getId()); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java index bab7c5c..6158218 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingContolledTest.java @@ -84,7 +84,7 @@ public void setup() throws Exception { this.datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); this.ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); - ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo", 0); + ProjectDto projectDto = super.createProject("New Project", user1, datasources, ontologies, "efo", 0); user1 = userService.findByEmail(user1.getEmail()); project = projectService.retrieveProject(projectDto.getId(), user1); sourceDto = super.createSource(project.getId()); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java index 0986310..fcb22fc 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/MatchMakingTest.java @@ -71,7 +71,7 @@ public void setup() throws Exception { List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); - ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo", 0); + ProjectDto projectDto = super.createProject("New Project", user1, datasources, ontologies, "efo", 0); user1 = userService.findByEmail(user1.getEmail()); project = projectService.retrieveProject(projectDto.getId(), user1); sourceDto = super.createSource(project.getId()); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntoTermContextStatusTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntoTermContextStatusTest.java index 4c6de0d..e1f33cd 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntoTermContextStatusTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntoTermContextStatusTest.java @@ -81,7 +81,7 @@ public void setup() throws Exception { */ @Test public void testCase1() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", datasources, ontologies, "efo", 0); + ProjectDto projectDto = super.createProject("New Project 1", user1, datasources, ontologies, "efo", 0); user1 = userService.findByEmail(user1.getEmail()); Project project1 = projectService.retrieveProject(projectDto.getId(), user1); @@ -90,7 +90,7 @@ public void testCase1() throws Exception { Entity entity1 = entityService.createEntity(new Entity(null, "Achondroplasia", RandomStringUtils.randomAlphabetic(10), CurationConstants.CONTEXT_DEFAULT, sourceDto1.getId(), project1.getId(), 10, provenance, EntityStatus.UNMAPPED)); - projectDto = super.createProject("New Project 2", "token1", datasources, ontologies, "efo", 0); + projectDto = super.createProject("New Project 2", user1, datasources, ontologies, "efo", 0); user1 = userService.findByEmail(user1.getEmail()); Project project2 = projectService.retrieveProject(projectDto.getId(), user1); SourceDto sourceDto2 = super.createSource(project2.getId()); @@ -149,7 +149,7 @@ public void testCase1() throws Exception { */ @Test public void testCase2() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", datasources, ontologies, "efo", 0); + ProjectDto projectDto = super.createProject("New Project 1", user1, datasources, ontologies, "efo", 0); user1 = userService.findByEmail(user1.getEmail()); Project project = projectService.retrieveProject(projectDto.getId(), user1); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntologyTermControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntologyTermControllerTest.java index 8ca947e..be2f975 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntologyTermControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/OntologyTermControllerTest.java @@ -41,7 +41,7 @@ public void setup() throws Exception { List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); - ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo", 0); + ProjectDto projectDto = super.createProject("New Project", user1, datasources, ontologies, "efo", 0); user1 = userService.findByEmail(user1.getEmail()); project = projectService.retrieveProject(projectDto.getId(), user1); } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectContextsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectContextsControllerTest.java index 761895a..98713c3 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectContextsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectContextsControllerTest.java @@ -24,7 +24,7 @@ public class ProjectContextsControllerTest extends IntegrationTest { public void setup() throws Exception { super.setup(); - projectDto = super.createProject("New Project", "token1", + projectDto = super.createProject("New Project", user1, Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}), Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}), "efo", 0); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectUsersControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectUsersControllerTest.java new file mode 100644 index 0000000..5559af5 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectUsersControllerTest.java @@ -0,0 +1,408 @@ +package uk.ac.ebi.spot.ontotools.curation; + +import com.fasterxml.jackson.core.type.TypeReference; +import org.junit.Test; +import org.springframework.http.MediaType; +import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; +import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; +import uk.ac.ebi.spot.ontotools.curation.rest.assembler.UserDtoAssembler; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectUserDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.UserDto; +import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; + +import java.util.Arrays; +import java.util.List; + +import static org.junit.Assert.assertEquals; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.*; +import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; + +public class ProjectUsersControllerTest extends IntegrationTest { + + /** + * GET /v1/projects/{projectId}/users + */ + @Test + public void shouldGetUsersForProject() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + String response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + List actual = mapper.readValue(response, new TypeReference<>() { + }); + + assertEquals(1, actual.size()); + assertEquals(user1.getEmail(), actual.get(0).getEmail()); + assertEquals(user1.getName(), actual.get(0).getName()); + } + + /** + * GET /v1/projects/{projectId}/users + */ + @Test + public void shouldNotGetUsersForProject() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * GET /v1/projects/{projectId}/users + */ + @Test + public void shouldNotGetUsersForProjectAsContributor() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + + userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONTRIBUTOR})); + mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * GET /v1/projects/{projectId}/users + */ + @Test + public void shouldNotGetUsersForProjectAsConsumer() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + + userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); + mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * POST /v1/projects/{projectId}/users + */ + @Test + public void shouldAddUserToProject() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); + mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + + endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); + String response = mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isCreated()) + .andReturn() + .getResponse() + .getContentAsString(); + + UserDto actual = mapper.readValue(response, new TypeReference<>() { + }); + + assertEquals(user2.getEmail(), actual.getEmail()); + assertEquals(user2.getName(), actual.getName()); + assertEquals(1, actual.getRoles().size()); + assertEquals(ProjectRole.CONTRIBUTOR.name(), actual.getRoles().get(0).getRole()); + + response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + List actualList = mapper.readValue(response, new TypeReference<>() { + }); + + assertEquals(2, actualList.size()); + + mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + + endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); + response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + ProjectDto actualProject = mapper.readValue(response, new TypeReference<>() { + }); + assertEquals(projectDto.getName(), actualProject.getName()); + assertEquals(projectDto.getDescription(), actualProject.getDescription()); + + } + + /** + * POST /v1/projects/{projectId}/users + */ + @Test + public void shouldNotAddUserToProject() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * POST /v1/projects/{projectId}/users + */ + @Test + public void shouldNotAddUserToProjectAsContributor() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); + + userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONTRIBUTOR})); + + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * POST /v1/projects/{projectId}/users + */ + @Test + public void shouldNotAddUserToProjectAsConsumer() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); + + userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); + + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * PUT /v1/projects/{projectId}/users/{userId} + */ + @Test + public void shouldUpdateUserToProject() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); + String response = mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isCreated()) + .andReturn() + .getResponse() + .getContentAsString(); + + UserDto actual = mapper.readValue(response, new TypeReference<>() { + }); + + assertEquals(user2.getEmail(), actual.getEmail()); + assertEquals(user2.getName(), actual.getName()); + assertEquals(1, actual.getRoles().size()); + assertEquals(ProjectRole.CONTRIBUTOR.name(), actual.getRoles().get(0).getRole()); + + endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS + "/" + user2.getId(); + ProjectUserDto updatedProjectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONSUMER.name()})); + response = mockMvc.perform(put(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(updatedProjectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + actual = mapper.readValue(response, new TypeReference<>() { + }); + + assertEquals(user2.getEmail(), actual.getEmail()); + assertEquals(user2.getName(), actual.getName()); + assertEquals(1, actual.getRoles().size()); + assertEquals(ProjectRole.CONSUMER.name(), actual.getRoles().get(0).getRole()); + } + + /** + * PUT /v1/projects/{projectId}/users/{userId} + */ + @Test + public void shouldNotUpdateUserToProject() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * PUT /v1/projects/{projectId}/users/{userId} + */ + @Test + public void shouldNotUpdateUserToProjectAsContributor() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); + userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONTRIBUTOR})); + + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * PUT /v1/projects/{projectId}/users/{userId} + */ + @Test + public void shouldNotUpdateUserToProjectAsConsumer() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); + userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); + + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + + /** + * DELETE /v1/projects/{projectId}/users/{userId} + */ + @Test + public void shouldDeleteUserRolesInProject() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); + String response = mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isCreated()) + .andReturn() + .getResponse() + .getContentAsString(); + + UserDto actual = mapper.readValue(response, new TypeReference<>() { + }); + + assertEquals(user2.getEmail(), actual.getEmail()); + assertEquals(user2.getName(), actual.getName()); + assertEquals(1, actual.getRoles().size()); + assertEquals(ProjectRole.CONTRIBUTOR.name(), actual.getRoles().get(0).getRole()); + + endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS + "/" + user2.getId(); + mockMvc.perform(delete(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()); + + endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); + mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + + endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + List actualList = mapper.readValue(response, new TypeReference<>() { + }); + + assertEquals(1, actualList.size()); + } + + /** + * DELETE /v1/projects/{projectId}/users/{userId} + */ + @Test + public void shouldNotDeleteUserRolesInProject() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * DELETE /v1/projects/{projectId}/users/{userId} + */ + @Test + public void shouldNotDeleteUserRolesInProjectAsContributor() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); + userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONTRIBUTOR})); + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } + + /** + * DELETE /v1/projects/{projectId}/users/{userId} + */ + @Test + public void shouldNotDeleteUserRolesInProjectAsConsumer() throws Exception { + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); + + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); + userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectUserDto)) + .header(IDPConstants.JWT_TOKEN, "token2")) + .andExpect(status().isNotFound()); + } +} diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java index a7bee16..e9eae2d 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsControllerTest.java @@ -6,9 +6,11 @@ import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectCreationDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; +import java.util.ArrayList; import java.util.Arrays; import java.util.List; @@ -18,12 +20,27 @@ public class ProjectsControllerTest extends IntegrationTest { + /** + * POST /v1/projects + */ + @Test + public void shouldNotCreateProject() throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS; + ProjectCreationDto projectCreationDto = new ProjectCreationDto("New Project", "Description", 0, + new ArrayList<>(), new ArrayList<>(), new ArrayList<>()); + mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .content(mapper.writeValueAsString(projectCreationDto)) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isForbidden()); + } + /** * POST /v1/projects */ @Test public void shouldCreateProject() throws Exception { - super.createProject("New Project", "token1", null, null, null, 0); + super.createProject("New Project", user1, null, null, null, 0); } /** @@ -31,7 +48,7 @@ public void shouldCreateProject() throws Exception { */ @Test public void shouldCreateProjectWithDatasources() throws Exception { - super.createProject("New Project", "token1", + super.createProject("New Project", user1, Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}), Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}), "efo", 0); @@ -42,8 +59,8 @@ public void shouldCreateProjectWithDatasources() throws Exception { */ @Test public void shouldGetProjects() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); - super.createProject("New Project 2", "token2", null, null, null, 0); + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); + super.createProject("New Project 2", user2, null, null, null, 0); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS; String response = mockMvc.perform(get(endpoint) @@ -68,7 +85,7 @@ public void shouldGetProjects() throws Exception { */ @Test public void shouldNotGetProjects() throws Exception { - super.createProject("New Project 1", "token1", null, null, null, 0); + super.createProject("New Project 1", user1, null, null, null, 0); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS; String response = mockMvc.perform(get(endpoint) @@ -89,7 +106,7 @@ public void shouldNotGetProjects() throws Exception { */ @Test public void shouldGetProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); String response = mockMvc.perform(get(endpoint) .contentType(MediaType.APPLICATION_JSON) @@ -110,7 +127,7 @@ public void shouldGetProject() throws Exception { */ @Test public void shouldNotGetProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); mockMvc.perform(get(endpoint) .contentType(MediaType.APPLICATION_JSON) @@ -123,7 +140,7 @@ public void shouldNotGetProject() throws Exception { */ @Test public void shouldUpdateProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); ProjectDto updatedProject = new ProjectDto(projectDto.getId(), "New Name", projectDto.getDescription(), @@ -135,7 +152,7 @@ public void shouldUpdateProject() throws Exception { String response = mockMvc.perform(put(endpoint) .contentType(MediaType.APPLICATION_JSON) .content(mapper.writeValueAsString(updatedProject)) - .header(IDPConstants.JWT_TOKEN, "token1")) + .header(IDPConstants.JWT_TOKEN, "supertoken")) .andExpect(status().isOk()) .andReturn() .getResponse() @@ -152,7 +169,7 @@ public void shouldUpdateProject() throws Exception { */ @Test public void shouldNotUpdateProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); ProjectDto updatedProject = new ProjectDto(projectDto.getId(), "New Name", projectDto.getDescription(), @@ -165,7 +182,7 @@ public void shouldNotUpdateProject() throws Exception { .contentType(MediaType.APPLICATION_JSON) .content(mapper.writeValueAsString(updatedProject)) .header(IDPConstants.JWT_TOKEN, "token2")) - .andExpect(status().isNotFound()); + .andExpect(status().isForbidden()); } /** @@ -173,7 +190,7 @@ public void shouldNotUpdateProject() throws Exception { */ @Test public void shouldNotUpdateProjectAsConsumer() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); ProjectDto updatedProject = new ProjectDto(projectDto.getId(), "New Name", projectDto.getDescription(), @@ -188,7 +205,7 @@ public void shouldNotUpdateProjectAsConsumer() throws Exception { .contentType(MediaType.APPLICATION_JSON) .content(mapper.writeValueAsString(updatedProject)) .header(IDPConstants.JWT_TOKEN, "token2")) - .andExpect(status().isNotFound()); + .andExpect(status().isForbidden()); } /** @@ -196,15 +213,15 @@ public void shouldNotUpdateProjectAsConsumer() throws Exception { */ @Test public void shouldDeleteProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); mockMvc.perform(delete(endpoint) - .header(IDPConstants.JWT_TOKEN, "token1")) + .header(IDPConstants.JWT_TOKEN, "supertoken")) .andExpect(status().isOk()); mockMvc.perform(get(endpoint) .contentType(MediaType.APPLICATION_JSON) - .header(IDPConstants.JWT_TOKEN, "token1")) + .header(IDPConstants.JWT_TOKEN, "supertoken")) .andExpect(status().isNotFound()); } @@ -213,11 +230,11 @@ public void shouldDeleteProject() throws Exception { */ @Test public void shouldNotDeleteProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); mockMvc.perform(delete(endpoint) .header(IDPConstants.JWT_TOKEN, "token2")) - .andExpect(status().isNotFound()); + .andExpect(status().isForbidden()); } /** @@ -225,12 +242,12 @@ public void shouldNotDeleteProject() throws Exception { */ @Test public void shouldNotDeleteProjectAsConsumer() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); mockMvc.perform(delete(endpoint) .header(IDPConstants.JWT_TOKEN, "token2")) - .andExpect(status().isNotFound()); + .andExpect(status().isForbidden()); } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsUtilControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsUtilControllerTest.java index c15602f..1cd1960 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsUtilControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/ProjectsUtilControllerTest.java @@ -22,7 +22,7 @@ public class ProjectsUtilControllerTest extends IntegrationTest { */ @Test public void shouldQueryOLS() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); + ProjectDto projectDto = super.createProject("New Project 1", user1, null, null, null, 0); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_SEARCH_OLS + "?" + CurationConstants.PARAM_QUERY + "=diabetes"; String response = mockMvc.perform(get(endpoint) diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/PublicDataControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/PublicDataControllerTest.java index 35e0644..1dd3323 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/PublicDataControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/PublicDataControllerTest.java @@ -76,7 +76,7 @@ public void setup() throws Exception { List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); - ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "efo", 0); + ProjectDto projectDto = super.createProject("New Project", user1, datasources, ontologies, "efo", 0); user1 = userService.findByEmail(user1.getEmail()); project = projectService.retrieveProject(projectDto.getId(), user1); sourceDto = super.createSource(project.getId()); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/SourcesControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/SourcesControllerTest.java index f465204..64080fd 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/SourcesControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/SourcesControllerTest.java @@ -29,7 +29,7 @@ public class SourcesControllerTest extends IntegrationTest { @Override public void setup() throws Exception { super.setup(); - projectDto = createProject("New Project", "token1", null, null, null, 0); + projectDto = createProject("New Project", user1, null, null, null, 0); } /** diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/UsersControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/UsersControllerTest.java index d04e794..476fd47 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/UsersControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/UsersControllerTest.java @@ -5,29 +5,24 @@ import org.springframework.http.MediaType; import uk.ac.ebi.spot.ontotools.curation.constants.CurationConstants; import uk.ac.ebi.spot.ontotools.curation.constants.IDPConstants; -import uk.ac.ebi.spot.ontotools.curation.constants.ProjectRole; -import uk.ac.ebi.spot.ontotools.curation.rest.assembler.UserDtoAssembler; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectUserDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.RestResponsePage; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.UserCreationDto; import uk.ac.ebi.spot.ontotools.curation.rest.dto.UserDto; import uk.ac.ebi.spot.ontotools.curation.system.GeneralCommon; -import java.util.Arrays; -import java.util.List; - import static org.junit.Assert.assertEquals; -import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.*; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.get; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.post; import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; public class UsersControllerTest extends IntegrationTest { /** - * GET /v1/projects/{projectId}/users + * GET /v1/users */ @Test - public void shouldGetUsersForProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; + public void shouldGetUsers() throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_USERS; String response = mockMvc.perform(get(endpoint) .contentType(MediaType.APPLICATION_JSON) .header(IDPConstants.JWT_TOKEN, "token1")) @@ -36,286 +31,35 @@ public void shouldGetUsersForProject() throws Exception { .getResponse() .getContentAsString(); - List actual = mapper.readValue(response, new TypeReference<>() { + RestResponsePage actualPage = mapper.readValue(response, new TypeReference<>() { }); - assertEquals(1, actual.size()); - assertEquals(user1.getEmail(), actual.get(0).getEmail()); - assertEquals(user1.getName(), actual.get(0).getName()); - } - - /** - * GET /v1/projects/{projectId}/users - */ - @Test - public void shouldNotGetUsersForProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; - mockMvc.perform(get(endpoint) - .contentType(MediaType.APPLICATION_JSON) - .header(IDPConstants.JWT_TOKEN, "token2")) - .andExpect(status().isNotFound()); - } - - /** - * GET /v1/projects/{projectId}/users - */ - @Test - public void shouldNotGetUsersForProjectAsContributor() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; - - userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONTRIBUTOR})); - mockMvc.perform(get(endpoint) - .contentType(MediaType.APPLICATION_JSON) - .header(IDPConstants.JWT_TOKEN, "token2")) - .andExpect(status().isNotFound()); - } - - /** - * GET /v1/projects/{projectId}/users - */ - @Test - public void shouldNotGetUsersForProjectAsConsumer() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; - - userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); - mockMvc.perform(get(endpoint) - .contentType(MediaType.APPLICATION_JSON) - .header(IDPConstants.JWT_TOKEN, "token2")) - .andExpect(status().isNotFound()); + assertEquals(4, actualPage.getContent().size()); } /** - * POST /v1/projects/{projectId}/users + * GET /v1/users */ @Test - public void shouldAddUserToProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); - - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); + public void shouldNotGetUsers() throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_USERS; mockMvc.perform(get(endpoint) - .contentType(MediaType.APPLICATION_JSON) - .header(IDPConstants.JWT_TOKEN, "token2")) - .andExpect(status().isNotFound()); - - endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; - ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); - String response = mockMvc.perform(post(endpoint) - .contentType(MediaType.APPLICATION_JSON) - .content(mapper.writeValueAsString(projectUserDto)) - .header(IDPConstants.JWT_TOKEN, "token1")) - .andExpect(status().isCreated()) - .andReturn() - .getResponse() - .getContentAsString(); - - UserDto actual = mapper.readValue(response, new TypeReference<>() { - }); - - assertEquals(user2.getEmail(), actual.getEmail()); - assertEquals(user2.getName(), actual.getName()); - assertEquals(1, actual.getRoles().size()); - assertEquals(ProjectRole.CONTRIBUTOR.name(), actual.getRoles().get(0).getRole()); - - response = mockMvc.perform(get(endpoint) - .contentType(MediaType.APPLICATION_JSON) - .header(IDPConstants.JWT_TOKEN, "token1")) - .andExpect(status().isOk()) - .andReturn() - .getResponse() - .getContentAsString(); - - List actualList = mapper.readValue(response, new TypeReference<>() { - }); - - assertEquals(2, actualList.size()); - - mockMvc.perform(get(endpoint) - .contentType(MediaType.APPLICATION_JSON) - .header(IDPConstants.JWT_TOKEN, "token2")) - .andExpect(status().isNotFound()); - - endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); - response = mockMvc.perform(get(endpoint) - .contentType(MediaType.APPLICATION_JSON) - .header(IDPConstants.JWT_TOKEN, "token2")) - .andExpect(status().isOk()) - .andReturn() - .getResponse() - .getContentAsString(); - - ProjectDto actualProject = mapper.readValue(response, new TypeReference<>() { - }); - assertEquals(projectDto.getName(), actualProject.getName()); - assertEquals(projectDto.getDescription(), actualProject.getDescription()); - - } - - /** - * POST /v1/projects/{projectId}/users - */ - @Test - public void shouldNotAddUserToProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; - ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); - mockMvc.perform(post(endpoint) - .contentType(MediaType.APPLICATION_JSON) - .content(mapper.writeValueAsString(projectUserDto)) - .header(IDPConstants.JWT_TOKEN, "token2")) - .andExpect(status().isNotFound()); - } - - /** - * POST /v1/projects/{projectId}/users - */ - @Test - public void shouldNotAddUserToProjectAsContributor() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; - ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); - - userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONTRIBUTOR})); - - mockMvc.perform(post(endpoint) - .contentType(MediaType.APPLICATION_JSON) - .content(mapper.writeValueAsString(projectUserDto)) - .header(IDPConstants.JWT_TOKEN, "token2")) - .andExpect(status().isNotFound()); - } - - /** - * POST /v1/projects/{projectId}/users - */ - @Test - public void shouldNotAddUserToProjectAsConsumer() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; - ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); - - userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); - - mockMvc.perform(post(endpoint) - .contentType(MediaType.APPLICATION_JSON) - .content(mapper.writeValueAsString(projectUserDto)) - .header(IDPConstants.JWT_TOKEN, "token2")) - .andExpect(status().isNotFound()); - } - - /** - * PUT /v1/projects/{projectId}/users/{userId} - */ - @Test - public void shouldUpdateUserToProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); - - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; - ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); - String response = mockMvc.perform(post(endpoint) - .contentType(MediaType.APPLICATION_JSON) - .content(mapper.writeValueAsString(projectUserDto)) - .header(IDPConstants.JWT_TOKEN, "token1")) - .andExpect(status().isCreated()) - .andReturn() - .getResponse() - .getContentAsString(); - - UserDto actual = mapper.readValue(response, new TypeReference<>() { - }); - - assertEquals(user2.getEmail(), actual.getEmail()); - assertEquals(user2.getName(), actual.getName()); - assertEquals(1, actual.getRoles().size()); - assertEquals(ProjectRole.CONTRIBUTOR.name(), actual.getRoles().get(0).getRole()); - - endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS + "/" + user2.getId(); - ProjectUserDto updatedProjectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONSUMER.name()})); - response = mockMvc.perform(put(endpoint) - .contentType(MediaType.APPLICATION_JSON) - .content(mapper.writeValueAsString(updatedProjectUserDto)) - .header(IDPConstants.JWT_TOKEN, "token1")) - .andExpect(status().isOk()) - .andReturn() - .getResponse() - .getContentAsString(); - - actual = mapper.readValue(response, new TypeReference<>() { - }); - - assertEquals(user2.getEmail(), actual.getEmail()); - assertEquals(user2.getName(), actual.getName()); - assertEquals(1, actual.getRoles().size()); - assertEquals(ProjectRole.CONSUMER.name(), actual.getRoles().get(0).getRole()); - } - - /** - * PUT /v1/projects/{projectId}/users/{userId} - */ - @Test - public void shouldNotUpdateUserToProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); - - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; - ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); - mockMvc.perform(post(endpoint) - .contentType(MediaType.APPLICATION_JSON) - .content(mapper.writeValueAsString(projectUserDto)) - .header(IDPConstants.JWT_TOKEN, "token2")) - .andExpect(status().isNotFound()); + .contentType(MediaType.APPLICATION_JSON)) + .andExpect(status().isUnauthorized()); } /** - * PUT /v1/projects/{projectId}/users/{userId} + * POST /v1/users */ @Test - public void shouldNotUpdateUserToProjectAsContributor() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); - - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; - ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); - userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONTRIBUTOR})); - - mockMvc.perform(post(endpoint) - .contentType(MediaType.APPLICATION_JSON) - .content(mapper.writeValueAsString(projectUserDto)) - .header(IDPConstants.JWT_TOKEN, "token2")) - .andExpect(status().isNotFound()); - } - - /** - * PUT /v1/projects/{projectId}/users/{userId} - */ - @Test - public void shouldNotUpdateUserToProjectAsConsumer() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); - - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; - ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); - userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); - - mockMvc.perform(post(endpoint) - .contentType(MediaType.APPLICATION_JSON) - .content(mapper.writeValueAsString(projectUserDto)) - .header(IDPConstants.JWT_TOKEN, "token2")) - .andExpect(status().isNotFound()); - } - - - /** - * DELETE /v1/projects/{projectId}/users/{userId} - */ - @Test - public void shouldDeleteUserRolesInProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); - - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; - ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); + public void shouldCreateUser() throws Exception { + super.createProject("New Project", user1, null, null, null, 0); + UserCreationDto userCreationDto = new UserCreationDto("Me", "me@me.com"); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_USERS; String response = mockMvc.perform(post(endpoint) .contentType(MediaType.APPLICATION_JSON) - .content(mapper.writeValueAsString(projectUserDto)) - .header(IDPConstants.JWT_TOKEN, "token1")) + .header(IDPConstants.JWT_TOKEN, "token1") + .content(mapper.writeValueAsString(userCreationDto))) .andExpect(status().isCreated()) .andReturn() .getResponse() @@ -324,85 +68,21 @@ public void shouldDeleteUserRolesInProject() throws Exception { UserDto actual = mapper.readValue(response, new TypeReference<>() { }); - assertEquals(user2.getEmail(), actual.getEmail()); - assertEquals(user2.getName(), actual.getName()); - assertEquals(1, actual.getRoles().size()); - assertEquals(ProjectRole.CONTRIBUTOR.name(), actual.getRoles().get(0).getRole()); - - endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS + "/" + user2.getId(); - mockMvc.perform(delete(endpoint) - .contentType(MediaType.APPLICATION_JSON) - .header(IDPConstants.JWT_TOKEN, "token1")) - .andExpect(status().isOk()); - - endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId(); - mockMvc.perform(get(endpoint) - .contentType(MediaType.APPLICATION_JSON) - .header(IDPConstants.JWT_TOKEN, "token2")) - .andExpect(status().isNotFound()); - - endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; - response = mockMvc.perform(get(endpoint) - .contentType(MediaType.APPLICATION_JSON) - .header(IDPConstants.JWT_TOKEN, "token1")) - .andExpect(status().isOk()) - .andReturn() - .getResponse() - .getContentAsString(); - - List actualList = mapper.readValue(response, new TypeReference<>() { - }); - - assertEquals(1, actualList.size()); + assertEquals(userCreationDto.getName(), actual.getName()); + assertEquals(userCreationDto.getEmail(), actual.getEmail()); } /** - * DELETE /v1/projects/{projectId}/users/{userId} + * POST /v1/users */ @Test - public void shouldNotDeleteUserRolesInProject() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); - - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; - ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); - mockMvc.perform(post(endpoint) - .contentType(MediaType.APPLICATION_JSON) - .content(mapper.writeValueAsString(projectUserDto)) - .header(IDPConstants.JWT_TOKEN, "token2")) - .andExpect(status().isNotFound()); - } - - /** - * DELETE /v1/projects/{projectId}/users/{userId} - */ - @Test - public void shouldNotDeleteUserRolesInProjectAsContributor() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); - - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; - ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); - userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONTRIBUTOR})); - mockMvc.perform(post(endpoint) - .contentType(MediaType.APPLICATION_JSON) - .content(mapper.writeValueAsString(projectUserDto)) - .header(IDPConstants.JWT_TOKEN, "token2")) - .andExpect(status().isNotFound()); - } - - /** - * DELETE /v1/projects/{projectId}/users/{userId} - */ - @Test - public void shouldNotDeleteUserRolesInProjectAsConsumer() throws Exception { - ProjectDto projectDto = super.createProject("New Project 1", "token1", null, null, null, 0); - - String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + projectDto.getId() + CurationConstants.API_USERS; - ProjectUserDto projectUserDto = new ProjectUserDto(UserDtoAssembler.assemble(user2), Arrays.asList(new String[]{ProjectRole.CONTRIBUTOR.name()})); - userService.addUserToProject(super.user2, projectDto.getId(), Arrays.asList(new ProjectRole[]{ProjectRole.CONSUMER})); + public void shouldNotCreateUser() throws Exception { + UserCreationDto userCreationDto = new UserCreationDto("Me", "me@me.com"); + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_USERS; mockMvc.perform(post(endpoint) .contentType(MediaType.APPLICATION_JSON) - .content(mapper.writeValueAsString(projectUserDto)) - .header(IDPConstants.JWT_TOKEN, "token2")) - .andExpect(status().isNotFound()); + .header(IDPConstants.JWT_TOKEN, "token1") + .content(mapper.writeValueAsString(userCreationDto))) + .andExpect(status().isForbidden()); } } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/UserCreationDtoTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/UserCreationDtoTest.java new file mode 100644 index 0000000..9de48c7 --- /dev/null +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/rest/dto/UserCreationDtoTest.java @@ -0,0 +1,13 @@ +package uk.ac.ebi.spot.ontotools.curation.rest.dto; + +import nl.jqno.equalsverifier.EqualsVerifier; +import org.junit.Test; + +public class UserCreationDtoTest { + @Test + public void equalsContract() { + EqualsVerifier.forClass(UserCreationDto.class) + .verify(); + } + +} \ No newline at end of file diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTaskTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTaskTest.java index 0172641..904c07f 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTaskTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/tasks/OntologyTermUpdateTaskTest.java @@ -78,7 +78,7 @@ public void setup() throws Exception { List datasources = Arrays.asList(new String[]{"cttv", "sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}); List ontologies = Arrays.asList(new String[]{"efo", "mondo", "hp", "ordo", "orphanet"}); - ProjectDto projectDto = super.createProject("New Project", "token1", datasources, ontologies, "mondo", 0); + ProjectDto projectDto = super.createProject("New Project", user1, datasources, ontologies, "mondo", 0); user1 = userService.findByEmail(user1.getEmail()); Project project = projectService.retrieveProject(projectDto.getId(), user1); SourceDto sourceDto = super.createSource(project.getId()); From 9bd27c7cf36856a2b53c6fcb24fd5ffb11ba763f Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Tue, 6 Apr 2021 21:07:03 +0800 Subject: [PATCH 68/72] Fixed access control on GET users endpoint. --- .../ontotools/curation/rest/controller/UsersController.java | 4 ++++ .../ac/ebi/spot/ontotools/curation/UsersControllerTest.java | 1 + 2 files changed, 5 insertions(+) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/UsersController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/UsersController.java index 881b43c..01a2c4b 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/UsersController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/UsersController.java @@ -48,6 +48,10 @@ public RestResponsePage getUsers(@RequestParam(value = CurationConstant HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); log.info("[{}] Request to retrieve users: {}", user.getEmail(), prefix); + if (!user.isSuperUser() && !CurationUtil.isAdmin(user)) { + log.error("Attempt to retrieve users by an unauthorized user: {}", user.getEmail()); + throw new AuthorizationException("Attempt to retrieve users by an unauthorized user: " + user.getEmail()); + } Page users = userService.retrieveUsers(prefix, pageable); return new RestResponsePage<>(users.stream().map(UserDtoAssembler::assemble).collect(Collectors.toList()), pageable, users.getTotalElements()); } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/UsersControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/UsersControllerTest.java index 476fd47..7529b67 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/UsersControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/UsersControllerTest.java @@ -22,6 +22,7 @@ public class UsersControllerTest extends IntegrationTest { */ @Test public void shouldGetUsers() throws Exception { + super.createProject("New Project", user1, null, null, null, 0); String endpoint = GeneralCommon.API_V1 + CurationConstants.API_USERS; String response = mockMvc.perform(get(endpoint) .contentType(MediaType.APPLICATION_JSON) From c00f06872f4a6f5ebb859d608c05a4aa024ddd4d Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Fri, 9 Apr 2021 11:44:57 +0800 Subject: [PATCH 69/72] Prepared structure for monolith packaging. --- Dockerfile | 4 +- pom.xml | 19 ++++- .../ontotools-curation-ingress-withui.yaml | 18 +++++ .../spot/ontotools/curation/Application.java | 12 ++- .../ontotools/curation/ApplicationWebXml.java | 29 +++++++ .../curation/config/AuthInterceptor.java | 77 ++++++++++--------- .../curation/config/WebMvcConfig.java | 11 +++ src/main/resources/application.yml | 6 ++ src/main/resources/logback-spring.xml | 20 ++--- 9 files changed, 141 insertions(+), 55 deletions(-) create mode 100644 scripts/config/ontotools-curation-ingress-withui.yaml create mode 100644 src/main/java/uk/ac/ebi/spot/ontotools/curation/ApplicationWebXml.java diff --git a/Dockerfile b/Dockerfile index 3cf7f91..fa8849c 100644 --- a/Dockerfile +++ b/Dockerfile @@ -10,8 +10,8 @@ RUN if [ ! -d /var/log/ontotools/ ];then mkdir /var/log/ontotools/;fi RUN chown -R ontotools-curation-service:ontotools-curation-service /var/log/ontotools # Move project artifact -ADD target/ontotools-curation-service-*.jar /home/ontotools-curation-service/ +ADD target/ontotools-curation-service-*.war /home/ontotools-curation-service/ USER ontotools-curation-service # Launch application server -ENTRYPOINT exec $JAVA_HOME/bin/java $XMX $XMS -jar -Dspring.profiles.active=$ENVIRONMENT /home/ontotools-curation-service/ontotools-curation-service-*.jar +ENTRYPOINT exec $JAVA_HOME/bin/java $XMX $XMS -jar -Dspring.profiles.active=$ENVIRONMENT /home/ontotools-curation-service/ontotools-curation-service-*.war diff --git a/pom.xml b/pom.xml index 68efe24..01e899a 100644 --- a/pom.xml +++ b/pom.xml @@ -7,7 +7,7 @@ uk.ac.ebi.spot.ontotools ontotools-curation-service 0.0.1-SNAPSHOT - jar + war OntoTools Curation Service @@ -66,6 +66,23 @@ org.springframework.boot spring-boot-maven-plugin + + true + + + + + repackage + + + + + + org.apache.maven.plugins + maven-war-plugin + + false + org.jacoco diff --git a/scripts/config/ontotools-curation-ingress-withui.yaml b/scripts/config/ontotools-curation-ingress-withui.yaml new file mode 100644 index 0000000..81167c8 --- /dev/null +++ b/scripts/config/ontotools-curation-ingress-withui.yaml @@ -0,0 +1,18 @@ +apiVersion: extensions/v1beta1 +kind: Ingress +metadata: + name: ontotools-curation-ingress + namespace: ontotools + annotations: + nginx.ingress.kubernetes.io/rewrite-target: /$2 + nginx.ingress.kubernetes.io/ssl-redirect: "false" + nginx.ingress.kubernetes.io/proxy-body-size: "30m" +spec: + rules: + - host: + http: + paths: + - path: /curator(/|$)(.*) + backend: + serviceName: ontotools-curation-service + servicePort: 8080 diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/Application.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/Application.java index 9feff60..f3ca24f 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/Application.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/Application.java @@ -38,9 +38,13 @@ public void destroy() { } public static void main(String[] args) throws UnknownHostException { - String hostAddress = InetAddress.getLocalHost().getHostAddress(); - String logFileName = System.getenv(GeneralCommon.LOG_FILE_NAME); - System.setProperty("log.file.name", logFileName + "-" + hostAddress); - SpringApplication.run(Application.class, args); + try { + String hostAddress = InetAddress.getLocalHost().getHostAddress(); + String logFileName = System.getenv(GeneralCommon.LOG_FILE_NAME); + System.setProperty("log.file.name", logFileName + "-" + hostAddress); + SpringApplication.run(Application.class, args); + }catch (Exception e) { + e.printStackTrace(); + } } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/ApplicationWebXml.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/ApplicationWebXml.java new file mode 100644 index 0000000..3f2d1d4 --- /dev/null +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/ApplicationWebXml.java @@ -0,0 +1,29 @@ +package uk.ac.ebi.spot.ontotools.curation; + +import org.slf4j.Logger; +import org.slf4j.LoggerFactory; +import org.springframework.boot.builder.SpringApplicationBuilder; +import org.springframework.boot.web.servlet.support.SpringBootServletInitializer; + +public class ApplicationWebXml extends SpringBootServletInitializer { + + private static final Logger log = LoggerFactory.getLogger(ApplicationWebXml.class); + + @Override + protected SpringApplicationBuilder configure( + SpringApplicationBuilder application) { + return application.profiles(addDefaultProfile()).sources(Application.class); + } + + private String addDefaultProfile() { + String profile = System.getProperty("spring.profiles.active"); + if (profile != null) { + log.info("Running with Spring profile(s) : {}", profile); + return profile; + } + + log.warn("No Spring profile configured, running with default configuration"); + return "dev"; + } + +} diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/AuthInterceptor.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/AuthInterceptor.java index 0a1a34a..c8e5bbd 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/AuthInterceptor.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/AuthInterceptor.java @@ -15,6 +15,7 @@ import javax.servlet.http.HttpServletRequest; import javax.servlet.http.HttpServletResponse; +import java.io.IOException; import java.util.Optional; public class AuthInterceptor implements HandlerInterceptor { @@ -36,48 +37,48 @@ public class AuthInterceptor implements HandlerInterceptor { @Override public boolean preHandle(HttpServletRequest httpServletRequest, HttpServletResponse httpServletResponse, - Object o) { - if (!"/error".equals(httpServletRequest.getRequestURI())) { - log.info("Authentication enabled: {}", systemConfigProperties.isAuthEnabled()); - if (!systemConfigProperties.isAuthEnabled()) { - return true; - } - - String requestedURI = httpServletRequest.getRequestURI(); - if (systemConfigProperties.getUnauthenticatedEndpointsPrefix() != null && requestedURI.startsWith(systemConfigProperties.getUnauthenticatedEndpointsPrefix())) { - log.info("Received call on unauthenticated endpoint: {}", requestedURI); - return true; - } - - String jwt = HeadersUtil.extractJWT(httpServletRequest); + Object o) throws IOException { + String requestedURI = httpServletRequest.getRequestURI(); + log.debug("Authentication enabled: {}", systemConfigProperties.isAuthEnabled()); + if (requestedURI.equals("/error")) { + return false; + } + if ((systemConfigProperties.getUnauthenticatedEndpointsPrefix() != null && + requestedURI.startsWith(systemConfigProperties.getUnauthenticatedEndpointsPrefix())) || + (!requestedURI.startsWith("/v1"))) { + log.debug("Received call on unauthenticated endpoint: {}", requestedURI); + return true; + } + if (!systemConfigProperties.isAuthEnabled()) { + return true; + } - if (jwt == null) { - log.error("Authorization failure. JWT token is null."); - throw new AuthenticationException("Authorization failure. JWT token is null."); - } - if ("".equals(jwt)) { - log.error("Authorization failure. JWT token is null."); - throw new AuthenticationException("Authorization failure. JWT token is null."); - } + String jwt = HeadersUtil.extractJWT(httpServletRequest); - Optional authTokenOptional = authTokenRepository.findByToken(jwt); - log.info("Token is privileged: {}", authTokenOptional.isPresent()); - if (authTokenOptional.isPresent()) { - User user = userService.findByEmail(authTokenOptional.get().getEmail()); - log.info("User found: {} - {}", user.getName(), user.getEmail()); - return true; - } + if (jwt == null) { + log.error("Authorization failure. JWT token is null."); + throw new AuthenticationException("Authorization failure. JWT token is null."); + } + if ("".equals(jwt)) { + log.error("Authorization failure. JWT token is null."); + throw new AuthenticationException("Authorization failure. JWT token is null."); + } - try { - User user = jwtService.extractUserSlim(jwt); - log.info("User found: {} - {}", user.getName(), user.getEmail()); - return true; - } catch (Exception e) { - log.error("Authorization failure: {}", e.getMessage(), e); - throw new AuthenticationException(e.getMessage()); - } + Optional authTokenOptional = authTokenRepository.findByToken(jwt); + log.debug("Token is privileged: {}", authTokenOptional.isPresent()); + if (authTokenOptional.isPresent()) { + User user = userService.findByEmail(authTokenOptional.get().getEmail()); + log.debug("User found: {} - {}", user.getName(), user.getEmail()); + return true; } - return false; + try { + User user = jwtService.extractUserSlim(jwt); + log.debug("User found: {} - {}", user.getName(), user.getEmail()); + return true; + } catch (Exception e) { + log.error("Authorization failure: {}", e.getMessage(), e); + throw new AuthenticationException(e.getMessage()); + } } } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/WebMvcConfig.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/WebMvcConfig.java index 1864054..4ec2e0c 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/WebMvcConfig.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/config/WebMvcConfig.java @@ -7,6 +7,7 @@ import org.springframework.web.multipart.support.MultipartFilter; import org.springframework.web.servlet.config.annotation.CorsRegistry; import org.springframework.web.servlet.config.annotation.InterceptorRegistry; +import org.springframework.web.servlet.config.annotation.ViewControllerRegistry; import org.springframework.web.servlet.config.annotation.WebMvcConfigurer; @@ -48,5 +49,15 @@ public void addCorsMappings(CorsRegistry registry) { .allowCredentials(true) .allowedHeaders("*", "Access-Control-Allow-Origin", "Access-Control-Allow-Credentials"); } + + @Override + public void addViewControllers(ViewControllerRegistry registry) { + registry.addViewController("/{spring:^[a-zA-Z\\d-_]+}") + .setViewName("forward:/"); + registry.addViewController("/**/{spring:^[a-zA-Z\\d-_]+}") + .setViewName("forward:/"); + registry.addViewController("/{spring:^[a-zA-Z\\d-_]+}/**{spring:?!(\\.js|\\.css)$}") + .setViewName("forward:/"); + } } } \ No newline at end of file diff --git a/src/main/resources/application.yml b/src/main/resources/application.yml index f81525a..8037027 100644 --- a/src/main/resources/application.yml +++ b/src/main/resources/application.yml @@ -2,6 +2,12 @@ server: name: ontotools-curation port: 8080 +spring: + web: + resources: + add-mappings: true + static-locations: classpath:/META-INF/resources/,classpath:/resources/,classpath:/static/ + logging: level: org: diff --git a/src/main/resources/logback-spring.xml b/src/main/resources/logback-spring.xml index 3217c75..600293f 100644 --- a/src/main/resources/logback-spring.xml +++ b/src/main/resources/logback-spring.xml @@ -23,11 +23,11 @@ - + @@ -51,11 +51,11 @@ - + From 3805b01321709412845858447f934c87bdc5eebf Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Fri, 9 Apr 2021 19:47:01 +0800 Subject: [PATCH 70/72] Added entity filtering by context. --- .../curation/constants/CurationConstants.java | 2 + .../curation/repository/EntityRepository.java | 7 ++- .../rest/controller/EntityController.java | 5 +- .../curation/service/EntityService.java | 4 +- .../service/impl/EntityServiceImpl.java | 9 ++- .../curation/EntityControllerTest.java | 63 +++++++++++++++++-- 6 files changed, 76 insertions(+), 14 deletions(-) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java index cf71295..a3b877e 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java @@ -36,6 +36,8 @@ public class CurationConstants { public static final String PARAM_SEARCH = "search"; + public static final String PARAM_CONTEXT = "context"; + public static final String PARAM_QUERY = "query"; public static final String ZOOMA_CONFIDENCE_HIGH = "HIGH"; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java index 0c7f41b..e5a31f2 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/repository/EntityRepository.java @@ -2,7 +2,6 @@ import org.springframework.data.domain.Page; import org.springframework.data.domain.Pageable; -import org.springframework.data.mongodb.core.query.TextCriteria; import org.springframework.data.mongodb.repository.MongoRepository; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; @@ -16,11 +15,15 @@ public interface EntityRepository extends MongoRepository { Page findByProjectId(String projectId, Pageable page); + Page findByProjectIdAndContext(String projectId, String context, Pageable page); + Stream readByProjectId(String projectId); Stream readByProjectIdAndContext(String projectId, String context); Stream readByProjectIdAndMappingStatusIn(String projectId, List statusList); - Page findByNameLikeIgnoreCase(String prefix, Pageable pageable); + Page findByProjectIdAndNameLikeIgnoreCase(String projectId, String prefix, Pageable pageable); + + Page findByProjectIdAndContextAndNameLikeIgnoreCase(String projectId, String context, String prefix, Pageable pageable); } diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java index 36a1b3f..7863e2c 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java @@ -64,9 +64,10 @@ public class EntityController { @ResponseStatus(HttpStatus.OK) public RestResponsePage getEntities(@PathVariable String projectId, @RequestParam(value = CurationConstants.PARAM_SEARCH, required = false) String prefix, + @RequestParam(value = CurationConstants.PARAM_CONTEXT, required = false) String context, @PageableDefault(size = 20, page = 0) Pageable pageable, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); - log.info("[{}] Request to retrieve entities: {}", user.getEmail(), projectId); + log.info("[{}] Request to retrieve entities: {} | {} | {}", user.getEmail(), projectId, prefix, context); projectService.verifyAccess(projectId, user, Arrays.asList(new ProjectRole[]{ProjectRole.ADMIN, ProjectRole.CONTRIBUTOR, ProjectRole.CONSUMER})); List sources = sourceService.getSources(projectId); Map sourceMap = new HashMap<>(); @@ -74,7 +75,7 @@ public RestResponsePage getEntities(@PathVariable String projectId, sourceMap.put(source.getId(), SourceDtoAssembler.assemble(source)); } - Page entities = entityService.retrieveEntitiesForProject(projectId, prefix, pageable); + Page entities = entityService.retrieveEntitiesForProject(projectId, prefix, context, pageable); List entityIds = entities.get().map(Entity::getId).collect(Collectors.toList()); Map mappings = mappingService.retrieveMappingsForEntities(entityIds); Map> mappingSuggestions = mappingSuggestionsService.retrieveMappingSuggestionsForEntities(entityIds); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java index 3b0def9..286f608 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/EntityService.java @@ -4,9 +4,7 @@ import org.springframework.data.domain.Pageable; import uk.ac.ebi.spot.ontotools.curation.constants.EntityStatus; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; -import uk.ac.ebi.spot.ontotools.curation.domain.Source; -import java.util.List; import java.util.stream.Stream; public interface EntityService { @@ -19,7 +17,7 @@ public interface EntityService { Entity updateMappingStatus(Entity entity, EntityStatus mappingStatus); - Page retrieveEntitiesForProject(String projectId, String prefix, Pageable page); + Page retrieveEntitiesForProject(String projectId, String prefix, String context, Pageable page); Entity retrieveEntity(String entityId); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java index 23d7f47..cdb9108 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/service/impl/EntityServiceImpl.java @@ -57,10 +57,13 @@ public Entity updateMappingStatus(Entity entity, EntityStatus mappingStatus) { } @Override - public Page retrieveEntitiesForProject(String projectId, String prefix, Pageable page) { + public Page retrieveEntitiesForProject(String projectId, String prefix, String context, Pageable page) { log.debug("Retrieving entities [{}]: {} | {}", projectId, prefix, page.getPageNumber(), page.getPageSize()); - Page entityPage = prefix == null ? entityRepository.findByProjectId(projectId, page) : - entityRepository.findByNameLikeIgnoreCase(prefix, page); + Page entityPage = prefix == null ? + (context == null ? entityRepository.findByProjectId(projectId, page) : + entityRepository.findByProjectIdAndContext(projectId, context, page)) : + (context == null ? entityRepository.findByProjectIdAndNameLikeIgnoreCase(projectId, prefix, page) : + entityRepository.findByProjectIdAndContextAndNameLikeIgnoreCase(projectId, context, prefix, page)); log.debug("Found {} entities.", entityPage.getContent().size()); return entityPage; } diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java index bf33d70..f463d33 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java @@ -14,10 +14,7 @@ import uk.ac.ebi.spot.ontotools.curation.domain.Project; import uk.ac.ebi.spot.ontotools.curation.domain.Provenance; import uk.ac.ebi.spot.ontotools.curation.domain.mapping.Entity; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.EntityDto; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.ProjectDto; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.RestResponsePage; -import uk.ac.ebi.spot.ontotools.curation.rest.dto.SourceDto; +import uk.ac.ebi.spot.ontotools.curation.rest.dto.*; import uk.ac.ebi.spot.ontotools.curation.rest.dto.mapping.MappingSuggestionDto; import uk.ac.ebi.spot.ontotools.curation.service.ProjectService; import uk.ac.ebi.spot.ontotools.curation.service.UserService; @@ -29,6 +26,7 @@ import static org.junit.Assert.assertEquals; import static org.junit.Assert.assertNotNull; import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.get; +import static org.springframework.test.web.servlet.request.MockMvcRequestBuilders.post; import static org.springframework.test.web.servlet.result.MockMvcResultMatchers.status; @ContextConfiguration(classes = {IntegrationTest.MockTaskExecutorConfig.class}) @@ -141,6 +139,63 @@ public void shouldGetEntitiesByPrefixSearch() throws Exception { assertEquals("Achondroplasia", actual.getName()); } + /** + * GET /v1/projects/{projectId}/entities?context= + */ + @Test + public void shouldGetEntitiesByContext() throws Exception { + String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_CONTEXTS; + ProjectContextDto newProjectContextDto = new ProjectContextDto("species_mouse", "", + Arrays.asList(new String[]{"sysmicro", "atlas", "ebisc", "uniprot", "gwas", "cbi", "clinvar-xrefs"}), + Arrays.asList(new String[]{"efo", "mondo", "mp"}), + Arrays.asList(new String[]{"efo"})); + + String response = mockMvc.perform(post(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1") + .content(super.mapper.writeValueAsString(newProjectContextDto))) + .andExpect(status().isCreated()) + .andReturn() + .getResponse() + .getContentAsString(); + + ProjectDto projectResponse = mapper.readValue(response, new TypeReference<>() { + }); + assertEquals(2, projectResponse.getContexts().size()); + + super.entityRepository.insert(new Entity(null, "Achonparestesia", RandomStringUtils.randomAlphabetic(10), + CurationConstants.CONTEXT_DEFAULT, sourceDto.getId(), project.getId(), null, + new Provenance(user1.getName(), user1.getEmail(), DateTime.now()), EntityStatus.AUTO_MAPPED)); + + endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_ENTITIES + + "?" + CurationConstants.PARAM_CONTEXT + "=species_mouse"; + response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + RestResponsePage entitiesPage = mapper.readValue(response, new TypeReference<>() { + }); + assertEquals(0, entitiesPage.getTotalElements()); + + endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_ENTITIES + + "?" + CurationConstants.PARAM_CONTEXT + "=DEFAULT"; + response = mockMvc.perform(get(endpoint) + .contentType(MediaType.APPLICATION_JSON) + .header(IDPConstants.JWT_TOKEN, "token1")) + .andExpect(status().isOk()) + .andReturn() + .getResponse() + .getContentAsString(); + + entitiesPage = mapper.readValue(response, new TypeReference<>() { + }); + assertEquals(2, entitiesPage.getTotalElements()); + } + /** * GET /v1/projects/{projectId}/entities/{entityId} */ From 022b8b93ed40c7f14d0a6ba735626ac17b504e59 Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Sat, 10 Apr 2021 07:56:45 +0800 Subject: [PATCH 71/72] Added frontend. Changed CI pipeline. --- .gitlab-ci.yml | 77 +- frontend/.env | 4 + frontend/.env.prod | 4 + frontend/.env.sandbox | 4 + frontend/.gitignore | 23 + frontend/README.md | 46 + frontend/package-lock.json | 36877 ++++++++++++++++ frontend/package.json | 56 + frontend/public/favicon.ico | Bin 0 -> 3870 bytes frontend/public/index.html | 43 + frontend/public/logo192.png | Bin 0 -> 5347 bytes frontend/public/logo512.png | Bin 0 -> 9664 bytes frontend/public/manifest.json | 25 + frontend/public/robots.txt | 3 + frontend/src/App.css | 38 + frontend/src/App.test.tsx | 9 + frontend/src/App.tsx | 54 + frontend/src/ElixirAuthService.tsx | 127 + frontend/src/api.ts | 47 + frontend/src/auth-context.tsx | 79 + frontend/src/auth.tsx | 54 + frontend/src/components/AuditTrail.tsx | 48 + frontend/src/components/EntityStatusBox.tsx | 27 + frontend/src/components/LoadingOverlay.tsx | 14 + frontend/src/components/MappingStatusBox.tsx | 25 + frontend/src/components/Provenance.tsx | 18 + frontend/src/components/StatusBox.tsx | 22 + frontend/src/components/TermStatusBox.tsx | 27 + frontend/src/dto/AuditEntry.ts | 14 + frontend/src/dto/Comment.ts | 6 + frontend/src/dto/Context.ts | 20 + frontend/src/dto/Entity.ts | 25 + frontend/src/dto/Mapping.ts | 34 + frontend/src/dto/MappingSuggestion.ts | 9 + frontend/src/dto/OlsSearchResult.ts | 16 + frontend/src/dto/OntologyTerm.ts | 27 + frontend/src/dto/Paginated.ts | 30 + frontend/src/dto/Project.ts | 22 + frontend/src/dto/ProjectMappingConfig.ts | 10 + frontend/src/dto/Provenance.ts | 10 + frontend/src/dto/Review.ts | 6 + frontend/src/dto/Source.ts | 25 + frontend/src/dto/User.ts | 11 + frontend/src/elixir_login_button.png | Bin 0 -> 62475 bytes frontend/src/elixir_logo.png | Bin 0 -> 72771 bytes frontend/src/formatDate.ts | 7 + frontend/src/global.d.ts | 1 + frontend/src/history.ts | 2 + frontend/src/index.css | 13 + frontend/src/index.tsx | 17 + frontend/src/logo.svg | 1 + frontend/src/pages/Home.tsx | 29 + frontend/src/pages/Login.tsx | 190 + frontend/src/pages/ProjectList.tsx | 35 + frontend/src/pages/entities/EntityList.tsx | 235 + frontend/src/pages/entities/EntityPage.tsx | 167 + .../pages/entities/MappingSuggestionList.tsx | 109 + .../src/pages/entities/MappingTermList.tsx | 101 + .../pages/entities/OntologyTermSearchBox.tsx | 80 + frontend/src/pages/projects/ContextForm.tsx | 51 + .../pages/projects/CreateContextDialog.tsx | 94 + .../pages/projects/CreateProjectDialog.tsx | 105 + frontend/src/pages/projects/ProjectForm.tsx | 52 + frontend/src/pages/projects/ProjectList.tsx | 132 + frontend/src/pages/projects/ProjectPage.tsx | 120 + frontend/src/react-app-env.d.ts | 1 + frontend/src/reportWebVitals.ts | 15 + frontend/src/setupTests.ts | 5 + frontend/tsconfig.json | 26 + frontend/yarn.lock | 12414 ++++++ 70 files changed, 52009 insertions(+), 9 deletions(-) create mode 100644 frontend/.env create mode 100644 frontend/.env.prod create mode 100644 frontend/.env.sandbox create mode 100644 frontend/.gitignore create mode 100644 frontend/README.md create mode 100644 frontend/package-lock.json create mode 100644 frontend/package.json create mode 100644 frontend/public/favicon.ico create mode 100644 frontend/public/index.html create mode 100644 frontend/public/logo192.png create mode 100644 frontend/public/logo512.png create mode 100644 frontend/public/manifest.json create mode 100644 frontend/public/robots.txt create mode 100644 frontend/src/App.css create mode 100644 frontend/src/App.test.tsx create mode 100644 frontend/src/App.tsx create mode 100644 frontend/src/ElixirAuthService.tsx create mode 100644 frontend/src/api.ts create mode 100644 frontend/src/auth-context.tsx create mode 100644 frontend/src/auth.tsx create mode 100644 frontend/src/components/AuditTrail.tsx create mode 100644 frontend/src/components/EntityStatusBox.tsx create mode 100644 frontend/src/components/LoadingOverlay.tsx create mode 100644 frontend/src/components/MappingStatusBox.tsx create mode 100644 frontend/src/components/Provenance.tsx create mode 100644 frontend/src/components/StatusBox.tsx create mode 100644 frontend/src/components/TermStatusBox.tsx create mode 100644 frontend/src/dto/AuditEntry.ts create mode 100644 frontend/src/dto/Comment.ts create mode 100644 frontend/src/dto/Context.ts create mode 100644 frontend/src/dto/Entity.ts create mode 100644 frontend/src/dto/Mapping.ts create mode 100644 frontend/src/dto/MappingSuggestion.ts create mode 100644 frontend/src/dto/OlsSearchResult.ts create mode 100644 frontend/src/dto/OntologyTerm.ts create mode 100644 frontend/src/dto/Paginated.ts create mode 100644 frontend/src/dto/Project.ts create mode 100644 frontend/src/dto/ProjectMappingConfig.ts create mode 100644 frontend/src/dto/Provenance.ts create mode 100644 frontend/src/dto/Review.ts create mode 100644 frontend/src/dto/Source.ts create mode 100644 frontend/src/dto/User.ts create mode 100644 frontend/src/elixir_login_button.png create mode 100644 frontend/src/elixir_logo.png create mode 100644 frontend/src/formatDate.ts create mode 100644 frontend/src/global.d.ts create mode 100644 frontend/src/history.ts create mode 100644 frontend/src/index.css create mode 100644 frontend/src/index.tsx create mode 100644 frontend/src/logo.svg create mode 100644 frontend/src/pages/Home.tsx create mode 100644 frontend/src/pages/Login.tsx create mode 100644 frontend/src/pages/ProjectList.tsx create mode 100644 frontend/src/pages/entities/EntityList.tsx create mode 100644 frontend/src/pages/entities/EntityPage.tsx create mode 100644 frontend/src/pages/entities/MappingSuggestionList.tsx create mode 100644 frontend/src/pages/entities/MappingTermList.tsx create mode 100644 frontend/src/pages/entities/OntologyTermSearchBox.tsx create mode 100644 frontend/src/pages/projects/ContextForm.tsx create mode 100644 frontend/src/pages/projects/CreateContextDialog.tsx create mode 100644 frontend/src/pages/projects/CreateProjectDialog.tsx create mode 100644 frontend/src/pages/projects/ProjectForm.tsx create mode 100644 frontend/src/pages/projects/ProjectList.tsx create mode 100644 frontend/src/pages/projects/ProjectPage.tsx create mode 100644 frontend/src/react-app-env.d.ts create mode 100644 frontend/src/reportWebVitals.ts create mode 100644 frontend/src/setupTests.ts create mode 100644 frontend/tsconfig.json create mode 100644 frontend/yarn.lock diff --git a/.gitlab-ci.yml b/.gitlab-ci.yml index b96d186..49e1044 100644 --- a/.gitlab-ci.yml +++ b/.gitlab-ci.yml @@ -3,9 +3,12 @@ services: - docker:dind stages: - - build - - docker - - docker-release + - build-frontend + - build-artefact + - build-container + - build-frontend-release + - build-artefact-release + - build-container-release - deploy-sandbox - deploy-fallback - deploy-live @@ -16,27 +19,84 @@ variables: REGISTRY_IMAGE: ebispot/ontotools-curation-service SERVICE_NAME: ontotools-curation-service +build-front: + image: node:10.15.3 + stage: build-frontend + script: + - npm -v + - node -v + - cd frontend + - rm -rf node_modules + - npm install + - CI=false npm run build:sandbox + artifacts: + paths: + - frontend/build/* + only: + - develop + maven-build: image: maven:3-jdk-12 - stage: build + stage: build-artefact script: - - mvn clean install -B -Dspring.profiles.active=test + - mkdir src/main/webapp + - mv frontend/build/* src/main/webapp/ + - ls -lah src/main/webapp + - mvn clean package spring-boot:repackage -DskipTests=true + dependencies: + - build-front artifacts: paths: - - target/*.jar + - target/*.war + only: + - develop build-container: - stage: docker + stage: build-container script: - echo "$DOCKER_HUB_PASSWORD" > dhpw.txt - docker login -u "${DOCKER_HUB_USER}" --password-stdin < dhpw.txt - docker build --cache-from $REGISTRY_IMAGE:latest -t $REGISTRY_IMAGE:$CI_COMMIT_SHA . - docker push $REGISTRY_IMAGE:$CI_COMMIT_SHA + only: + - develop + +build-front-release: + image: node:10.15.3 + stage: build-frontend-release + script: + - npm -v + - node -v + - cd frontend + - rm -rf node_modules + - npm install + - CI=false npm run build:prod + artifacts: + paths: + - frontend/build/* + only: + - tags + +maven-build-release: + image: maven:3-jdk-12 + stage: build-artefact-release + script: + - mkdir src/main/webapp + - mv frontend/build/* src/main/webapp/ + - ls -lah src/main/webapp + - mvn clean package spring-boot:repackage -DskipTests=true + dependencies: + - build-front-release + artifacts: + paths: + - target/*.war + only: + - tags build-release: variables: GIT_STRATEGY: none - stage: docker-release + stage: build-container-release script: - echo "$DOCKER_HUB_PASSWORD" > dhpw.txt - docker login -u "${DOCKER_HUB_USER}" --password-stdin < dhpw.txt @@ -64,7 +124,6 @@ deploy-sandbox: only: - develop - deploy-fallback: image: dtzar/helm-kubectl:2.13.1 stage: deploy-fallback diff --git a/frontend/.env b/frontend/.env new file mode 100644 index 0000000..ca4b576 --- /dev/null +++ b/frontend/.env @@ -0,0 +1,4 @@ +REACT_APP_AAPURL="https://api.aai.ebi.ac.uk" +REACT_APP_APIURL="http://localhost:8080/ontotools/curation/api" +PUBLIC_URL="" + diff --git a/frontend/.env.prod b/frontend/.env.prod new file mode 100644 index 0000000..e20b185 --- /dev/null +++ b/frontend/.env.prod @@ -0,0 +1,4 @@ +REACT_APP_AAPURL="https://api.aai.ebi.ac.uk" +REACT_APP_APIURL="/curator" +PUBLIC_URL="/curator" + diff --git a/frontend/.env.sandbox b/frontend/.env.sandbox new file mode 100644 index 0000000..e20b185 --- /dev/null +++ b/frontend/.env.sandbox @@ -0,0 +1,4 @@ +REACT_APP_AAPURL="https://api.aai.ebi.ac.uk" +REACT_APP_APIURL="/curator" +PUBLIC_URL="/curator" + diff --git a/frontend/.gitignore b/frontend/.gitignore new file mode 100644 index 0000000..4d29575 --- /dev/null +++ b/frontend/.gitignore @@ -0,0 +1,23 @@ +# See https://help.github.com/articles/ignoring-files/ for more about ignoring files. + +# dependencies +/node_modules +/.pnp +.pnp.js + +# testing +/coverage + +# production +/build + +# misc +.DS_Store +.env.local +.env.development.local +.env.test.local +.env.production.local + +npm-debug.log* +yarn-debug.log* +yarn-error.log* diff --git a/frontend/README.md b/frontend/README.md new file mode 100644 index 0000000..b58e0af --- /dev/null +++ b/frontend/README.md @@ -0,0 +1,46 @@ +# Getting Started with Create React App + +This project was bootstrapped with [Create React App](https://github.com/facebook/create-react-app). + +## Available Scripts + +In the project directory, you can run: + +### `yarn start` + +Runs the app in the development mode.\ +Open [http://localhost:3000](http://localhost:3000) to view it in the browser. + +The page will reload if you make edits.\ +You will also see any lint errors in the console. + +### `yarn test` + +Launches the test runner in the interactive watch mode.\ +See the section about [running tests](https://facebook.github.io/create-react-app/docs/running-tests) for more information. + +### `yarn build` + +Builds the app for production to the `build` folder.\ +It correctly bundles React in production mode and optimizes the build for the best performance. + +The build is minified and the filenames include the hashes.\ +Your app is ready to be deployed! + +See the section about [deployment](https://facebook.github.io/create-react-app/docs/deployment) for more information. + +### `yarn eject` + +**Note: this is a one-way operation. Once you `eject`, you can’t go back!** + +If you aren’t satisfied with the build tool and configuration choices, you can `eject` at any time. This command will remove the single build dependency from your project. + +Instead, it will copy all the configuration files and the transitive dependencies (webpack, Babel, ESLint, etc) right into your project so you have full control over them. All of the commands except `eject` will still work, but they will point to the copied scripts so you can tweak them. At this point you’re on your own. + +You don’t have to ever use `eject`. The curated feature set is suitable for small and middle deployments, and you shouldn’t feel obligated to use this feature. However we understand that this tool wouldn’t be useful if you couldn’t customize it when you are ready for it. + +## Learn More + +You can learn more in the [Create React App documentation](https://facebook.github.io/create-react-app/docs/getting-started). + +To learn React, check out the [React documentation](https://reactjs.org/). diff --git a/frontend/package-lock.json b/frontend/package-lock.json new file mode 100644 index 0000000..b8e81db --- /dev/null +++ b/frontend/package-lock.json @@ -0,0 +1,36877 @@ +{ + "name": "curation-app", + "version": "0.1.0", + "lockfileVersion": 2, + "requires": true, + "packages": { + "": { + "version": "0.1.0", + "dependencies": { + "@material-ui/core": "^4.11.3", + "@material-ui/icons": "^4.11.2", + "@material-ui/lab": "^4.0.0-alpha.57", + "@testing-library/jest-dom": "^5.11.4", + "@testing-library/react": "^11.1.0", + "@testing-library/user-event": "^12.1.10", + "@types/jest": "^26.0.15", + "@types/node": "^12.0.0", + "@types/react": "^17.0.0", + 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HcmV?d00001 diff --git a/frontend/public/manifest.json b/frontend/public/manifest.json new file mode 100644 index 0000000..080d6c7 --- /dev/null +++ b/frontend/public/manifest.json @@ -0,0 +1,25 @@ +{ + "short_name": "React App", + "name": "Create React App Sample", + "icons": [ + { + "src": "favicon.ico", + "sizes": "64x64 32x32 24x24 16x16", + "type": "image/x-icon" + }, + { + "src": "logo192.png", + "type": "image/png", + "sizes": "192x192" + }, + { + "src": "logo512.png", + "type": "image/png", + "sizes": "512x512" + } + ], + "start_url": ".", + "display": "standalone", + "theme_color": "#000000", + "background_color": "#ffffff" +} diff --git a/frontend/public/robots.txt b/frontend/public/robots.txt new file mode 100644 index 0000000..e9e57dc --- /dev/null +++ b/frontend/public/robots.txt @@ -0,0 +1,3 @@ +# https://www.robotstxt.org/robotstxt.html +User-agent: * +Disallow: diff --git a/frontend/src/App.css b/frontend/src/App.css new file mode 100644 index 0000000..74b5e05 --- /dev/null +++ b/frontend/src/App.css @@ -0,0 +1,38 @@ +.App { + text-align: center; +} + +.App-logo { + height: 40vmin; + pointer-events: none; +} + +@media (prefers-reduced-motion: no-preference) { + .App-logo { + animation: App-logo-spin infinite 20s linear; + } +} + +.App-header { + background-color: #282c34; + min-height: 100vh; + display: flex; + flex-direction: column; + align-items: center; + justify-content: center; + font-size: calc(10px + 2vmin); + color: white; +} + +.App-link { + color: #61dafb; +} + +@keyframes App-logo-spin { + from { + transform: rotate(0deg); + } + to { + transform: rotate(360deg); + } +} diff --git a/frontend/src/App.test.tsx b/frontend/src/App.test.tsx new file mode 100644 index 0000000..2a68616 --- /dev/null +++ b/frontend/src/App.test.tsx @@ -0,0 +1,9 @@ +import React from 'react'; +import { render, screen } from '@testing-library/react'; +import App from './App'; + +test('renders learn react link', () => { + render(); + const linkElement = screen.getByText(/learn react/i); + expect(linkElement).toBeInTheDocument(); +}); diff --git a/frontend/src/App.tsx b/frontend/src/App.tsx new file mode 100644 index 0000000..8c7a80f --- /dev/null +++ b/frontend/src/App.tsx @@ -0,0 +1,54 @@ +import React, { Fragment, useState } from 'react'; +import { BrowserRouter, Route, RouteComponentProps, Switch, withRouter } from "react-router-dom"; +import logo from './logo.svg'; +import './App.css'; +import { createStyles, Theme, WithStyles, withStyles } from '@material-ui/core'; + +import Home from './pages/Home' +import Login from './pages/Login' +import ProjectPage from './pages/projects/ProjectPage' +import { AuthProvider } from './auth-context'; +import EntityPage from './pages/entities/EntityPage'; + +let styles = (theme:Theme) => createStyles({ + main: { + padding: theme.spacing(3), + [theme.breakpoints.down('xs')]: { + padding: theme.spacing(2), + }, + }, + }); + +interface AppProps extends WithStyles { +} + +function App(props:AppProps) { + + let { classes } = props + + return ( + + +
+ + + + + + }> + + }> + +
+ + + + ); + +} + +export default withStyles(styles)(App) + + diff --git a/frontend/src/ElixirAuthService.tsx b/frontend/src/ElixirAuthService.tsx new file mode 100644 index 0000000..f458c25 --- /dev/null +++ b/frontend/src/ElixirAuthService.tsx @@ -0,0 +1,127 @@ +import jwt_decode from 'jwt-decode'; + +export default class ElixirAuthService { + + _domain:string + _appURL:string + + constructor() { + this._domain = encodeURIComponent(window.location.origin) || 'http://localhost:8080'; + this._appURL = process.env.REACT_APP_AAPURL!.replace(/\/$/, ''); + + this.getProfile = this.getProfile.bind(this); + this.login = this.login.bind(this); + } + + login = () => { + var width = 650; + var height = 1000; + var left = -1; + var top = -1; + + if (left < 0) { + const screenWidth = window.screen.width; + if (screenWidth > width) { + left = Math.round((screenWidth - width) / 2); + } + } + if (top < 0) { + const screenHeight = window.screen.height; + if (screenHeight > height) { + top = Math.round((screenHeight - height) / 2); + } + } + + const windowOptions = [ + `width=${width}`, + `height=${height}`, + `left=${left}`, + `top=${top}`, + 'personalbar=no', + 'toolbar=no', + 'scrollbars=yes', + 'resizable=yes', + 'directories=no', + 'location=no', + 'menubar=no', + 'titlebar=no', + 'toolbar=no' + ]; + + const loginWindow = window.open(this.getSSOURL(), 'Sign in to Elixir', windowOptions.join(',')); + + if (loginWindow) { + loginWindow.focus(); + } + } + + + /** + * Produces a URL that allows logging into the single sign on (SSO) page. + * The URL is opened in a new window using window.open(). + * + * @returns The SSO URL. + */ + getSSOURL() { + const fragments = this._formatFragments({ + 'from': this._domain, + }); + return `${this._appURL}/sso${fragments}&ttl=180`; + } + + + /** + * Format and filter fragment options + * + * @params options + * + * @returns fragment string + */ + _formatFragments(options:any) { + return '?' + Object.entries(options) + .map(([key, value]) => `${key}=${value}`).join('&'); + } + + + loggedIn() { + // Checks if there is a saved token and it's still valid + const token = this.getToken() // GEtting token from localstorage + return !!token && !this.isTokenExpired(token) // handwaiving here + } + + isTokenExpired(token:string) { + try { + const decoded:any = jwt_decode(token); + if (decoded.exp < Date.now() / 1000) { // Checking if token is expired. + return true; + } + else { + return false; + } + } + catch (err) { + return err; + } + } + + setToken(token:string) { + // Saves user token to localStorage + localStorage.setItem("id_token", token); + } + + getToken() { + // Retrieves the user token from localStorage + return localStorage.getItem('id_token') + } + + logout() { + // Clear user token and profile data from localStorage + localStorage.removeItem('id_token'); + } + + getProfile() { + // Using jwt-decode npm package to decode the token + return jwt_decode(this.getToken()!); + } +} + diff --git a/frontend/src/api.ts b/frontend/src/api.ts new file mode 100644 index 0000000..39cb963 --- /dev/null +++ b/frontend/src/api.ts @@ -0,0 +1,47 @@ + +import { getAuthHeaders, isLoggedIn } from "./auth" + +export async function request(path:string, init?:RequestInit|undefined):Promise { + + if(!isLoggedIn()) { + window.location.href = process.env.PUBLIC_URL + '/login' + return + } + + try { + let res = await fetch(`${process.env.REACT_APP_APIURL}${path}`, { + ...(init ? init : {}), + headers: { ...(init?.headers || {}), ...getAuthHeaders() } + }) + + return await res.json() + } catch(e) { + console.dir(e) + // window.location.href = '/login' + } + +} + +export async function get(path:string):Promise { + return request(path) +} + +export async function post(path:string, body:ReqType):Promise { + return request(path, { + method: 'POST', + body: JSON.stringify(body), + headers: { + 'content-type': 'application/json' + } + }) +} + +export async function put(path:string, body:ReqType):Promise { + return request(path, { + method: 'PUT', + body: JSON.stringify(body), + headers: { + 'content-type': 'application/json' + } + }) +} \ No newline at end of file diff --git a/frontend/src/auth-context.tsx b/frontend/src/auth-context.tsx new file mode 100644 index 0000000..662149c --- /dev/null +++ b/frontend/src/auth-context.tsx @@ -0,0 +1,79 @@ +import React, { createContext } from 'react'; +import ElixirAuthService from './ElixirAuthService'; + +interface AuthContextState { + isAuthenticated:boolean + JWTToken:string|null + onAuthenticate:(token:string)=>void + onLogout:()=>void +} + +export const AuthContext = createContext({ + isAuthenticated: false, + JWTToken: null, + onAuthenticate: (token:string) => { }, + onLogout: () => { }, +}); + +export class AuthProvider extends React.Component<{}, AuthContextState> { + + elixirAuthService:ElixirAuthService + + constructor() { + + super({}); + + this.state = { + isAuthenticated: false, + JWTToken: null, + onAuthenticate: this.onAuthenticate, + onLogout: this.onLogout + } + + this.elixirAuthService = new ElixirAuthService(); + } + + componentDidMount() { + const savedToken = this.elixirAuthService.getToken(); + + if (savedToken) { + this.setState({ + isAuthenticated: true, + JWTToken: savedToken + }); + } + } + + onAuthenticate = (token:string) => { + this.setState({ + isAuthenticated: true, + JWTToken: token + }) + } + + onLogout = () => { + this.setState({ + isAuthenticated: false, + JWTToken: null + }) + } + + getProvidedState():AuthContextState { + return { + isAuthenticated: this.state.isAuthenticated, + JWTToken: this.state.JWTToken, + onAuthenticate: this.onAuthenticate, + onLogout: this.onLogout + }; + } + + render() { + return ( + + {this.props.children} + + ); + } +} + +export const AuthConsumer = AuthContext.Consumer; diff --git a/frontend/src/auth.tsx b/frontend/src/auth.tsx new file mode 100644 index 0000000..441c256 --- /dev/null +++ b/frontend/src/auth.tsx @@ -0,0 +1,54 @@ + +import jwt_decode from 'jwt-decode'; +import ElixirAuthService from './ElixirAuthService' +import history from './history' + +/** + * Check if user is logged in and if token is still valid and if GDPR accepted. + */ +export function checkUserAuthStatus() { + const token = getToken().auth; + // const gdprAccepted = JSON.parse(localStorage.getItem('gdpr-accepted')); + const eas = new ElixirAuthService(); + + if (token && !eas.isTokenExpired(token)) {// && gdprAccepted) { + return token; + } else { + // if (!JSON.parse(gdprAccepted)) { + // history.push(`${process.env.PUBLIC_URL}/gdpr`, { + // from: `/update-bodyofwork`, + // }) + // } + // else { + // history.push(`${process.env.PUBLIC_URL}/login`, { + // from: `/update-bodyofwork`, + // }) + // } + } + return; +} + +/** + * Check for token in local storage + * and parse out email if token is present. + */ +export function getToken() { + let token:any = null; + let userEmail:any = null; + if (localStorage.getItem('id_token')) { + token = localStorage.getItem('id_token'); + userEmail = (jwt_decode(token) as any).email; + } + return { authEmail: userEmail, auth: token }; +} + +export function getAuthHeaders() { + return { 'Authorization': 'Bearer ' + getToken().auth } + // return { 'Authorization': 'Bearer james' } +} + + +export function isLoggedIn() { + return !!checkUserAuthStatus() +} + diff --git a/frontend/src/components/AuditTrail.tsx b/frontend/src/components/AuditTrail.tsx new file mode 100644 index 0000000..4b4ef2b --- /dev/null +++ b/frontend/src/components/AuditTrail.tsx @@ -0,0 +1,48 @@ + +import { Box, Card, List, ListItem, Paper, Table, TableBody, TableCell, TableContainer, TableRow } from "@material-ui/core"; +import React from "react"; +import AuditEntry from "../dto/AuditEntry"; +import { EntityStatus } from "../dto/Entity"; +import formatDate from "../formatDate"; +import StatusBox from "./StatusBox"; + +let actionToText = new Map(); +actionToText.set('ADDED_MAPPING', 'added a mapping') +actionToText.set('ADDED_SUGGESTION', 'added a suggestion') +actionToText.set('REMOVED_SUGGESTION', 'removed a suggestion') +actionToText.set('UPDATED_MAPPING', 'updated the mapping') + +export default function AuditTrail(props:{trail:AuditEntry[]}) { + + let { trail } = props + + return + { + trail.map((e:AuditEntry) => { + return + + + {e.user.name} {actionToText.get(e.action) || e.action} {formatDate(e.timestamp)} + + { + e.metadata.length > 0 && + + + + { + e.metadata.map(m => { + return {m.key}{m.value} + }) + } + +
+ + } + + + }) + } + +} + + diff --git a/frontend/src/components/EntityStatusBox.tsx b/frontend/src/components/EntityStatusBox.tsx new file mode 100644 index 0000000..d2e263e --- /dev/null +++ b/frontend/src/components/EntityStatusBox.tsx @@ -0,0 +1,27 @@ + +import React from "react"; +import { EntityStatus } from "../dto/Entity"; +import StatusBox from "./StatusBox"; + +export default function EntityStatusBox(props:{ status:EntityStatus }) { + + let { status } = props + + let color = ({ + [EntityStatus.UNMAPPED]: '#B22929', + [EntityStatus.SUGGESTIONS_PROVIDED]: '#FAA869', + [EntityStatus.MANUALLY_MAPPED]: '#29B27F', + [EntityStatus.AUTO_MAPPED]: '#29B27F' + })[status] + + let text = ({ + [EntityStatus.UNMAPPED]: 'Unmapped', + [EntityStatus.SUGGESTIONS_PROVIDED]: 'Suggestions Provided', + [EntityStatus.MANUALLY_MAPPED]: 'Manually Mapped', + [EntityStatus.AUTO_MAPPED]: 'Auto Mapped' + })[status] + + return +} + + diff --git a/frontend/src/components/LoadingOverlay.tsx b/frontend/src/components/LoadingOverlay.tsx new file mode 100644 index 0000000..49b6329 --- /dev/null +++ b/frontend/src/components/LoadingOverlay.tsx @@ -0,0 +1,14 @@ + +import { ReactNode } from 'react' +import ReactLoadingOverlay from 'react-loading-overlay' + +export default function LoadingOverlay(props: { active: boolean, children: ReactNode }) { + return ({ + ...base, + background: 'rgba(0, 0, 0, 0.2)' + }) + }}> + {props.children} + +} diff --git a/frontend/src/components/MappingStatusBox.tsx b/frontend/src/components/MappingStatusBox.tsx new file mode 100644 index 0000000..ccfad8a --- /dev/null +++ b/frontend/src/components/MappingStatusBox.tsx @@ -0,0 +1,25 @@ + +import React from "react"; +import { MappingStatus } from "../dto/Mapping"; +import StatusBox from "./StatusBox"; + +export default function MappingStatusBox(props:{ status:MappingStatus }) { + + let { status } = props + + let color = ({ + [MappingStatus.AWAITING_REVIEW]: '#B22929', + [MappingStatus.REVIEW_IN_PROGRESS]: '#FAA869', + [MappingStatus.REQUIRED_REVIEWS_REACHED]: '#29B27F' + })[status] + + let text = ({ + [MappingStatus.AWAITING_REVIEW]: 'Awaiting Review', + [MappingStatus.REVIEW_IN_PROGRESS]: 'Review in Progress', + [MappingStatus.REQUIRED_REVIEWS_REACHED]: 'Required Reviews Reached' + })[status] + + return +} + + diff --git a/frontend/src/components/Provenance.tsx b/frontend/src/components/Provenance.tsx new file mode 100644 index 0000000..542f001 --- /dev/null +++ b/frontend/src/components/Provenance.tsx @@ -0,0 +1,18 @@ + +import ProvenanceDTO from "../dto/Provenance"; +import formatDate from '../formatDate' + +export default function Provenance(props:{provenance:ProvenanceDTO, label:string}) { + + let { provenance, label } = props + + let when = formatDate(provenance.timestamp) + + return +} + + diff --git a/frontend/src/components/StatusBox.tsx b/frontend/src/components/StatusBox.tsx new file mode 100644 index 0000000..974d0a2 --- /dev/null +++ b/frontend/src/components/StatusBox.tsx @@ -0,0 +1,22 @@ + + +export default function StatusBox(props:{color:string, text:string}) { + + let { color, text } = props + + return {text} +} + + + diff --git a/frontend/src/components/TermStatusBox.tsx b/frontend/src/components/TermStatusBox.tsx new file mode 100644 index 0000000..12e4991 --- /dev/null +++ b/frontend/src/components/TermStatusBox.tsx @@ -0,0 +1,27 @@ + +import React from "react"; +import { OntologyTermStatus } from "../dto/OntologyTerm"; +import StatusBox from "./StatusBox"; + +export default function TermStatusBox(props:{ status:OntologyTermStatus }) { + + let { status } = props + + let color = ({ + [OntologyTermStatus.DELETED]: '#B22929', + [OntologyTermStatus.OBSOLETE]: '#B22929', + [OntologyTermStatus.NEEDS_IMPORT]: '#FAA869', + [OntologyTermStatus.CURRENT]: '#29B27F' + })[status] + + let text = ({ + [OntologyTermStatus.DELETED]: 'Deleted', + [OntologyTermStatus.OBSOLETE]: 'Obsolete', + [OntologyTermStatus.NEEDS_IMPORT]: 'Needs Import', + [OntologyTermStatus.CURRENT]: 'Current' + })[status] + + return +} + + diff --git a/frontend/src/dto/AuditEntry.ts b/frontend/src/dto/AuditEntry.ts new file mode 100644 index 0000000..3e17fb8 --- /dev/null +++ b/frontend/src/dto/AuditEntry.ts @@ -0,0 +1,14 @@ + +export default interface AuditEntry { + action:string + user: { + name:string + email:string + } + metadata: { + key:string + value:string + }[] + timestamp:string +} + diff --git a/frontend/src/dto/Comment.ts b/frontend/src/dto/Comment.ts new file mode 100644 index 0000000..38aaf50 --- /dev/null +++ b/frontend/src/dto/Comment.ts @@ -0,0 +1,6 @@ +import Provenance from "./Provenance"; + +export default interface Comment { + body:string + created:Provenance +} diff --git a/frontend/src/dto/Context.ts b/frontend/src/dto/Context.ts new file mode 100644 index 0000000..c9c183d --- /dev/null +++ b/frontend/src/dto/Context.ts @@ -0,0 +1,20 @@ + +import Provenance from "./Provenance"; + +export default interface Context { + id?:string + name:string + description:string + datasources:{ + field:string + mappingList:string[] + }[] + ontologies:{ + field:string + mappingList:string[] + }[] + preferredMappingOntologies:string[] + created:Provenance +} + + diff --git a/frontend/src/dto/Entity.ts b/frontend/src/dto/Entity.ts new file mode 100644 index 0000000..0f3f634 --- /dev/null +++ b/frontend/src/dto/Entity.ts @@ -0,0 +1,25 @@ +import MappingSuggestion from "./MappingSuggestion"; +import Provenance from "./Provenance"; +import Source from "./Source"; +import Mapping from "./Mapping"; +import AuditEntry from "./AuditEntry"; + +export default interface Entity { + id: string + name: string + mappingStatus: EntityStatus + source: Source + upstreamId: string + upstreamField: string + mappingSuggestions:MappingSuggestion[] + mapping:Mapping + created:Provenance + auditTrail:AuditEntry[] +} + +export enum EntityStatus { + UNMAPPED = 'UNMAPPED', + SUGGESTIONS_PROVIDED = 'SUGGESTIONS_PROVIDED', + AUTO_MAPPED = 'AUTO_MAPPED', + MANUALLY_MAPPED = 'MANUALLY_MAPPED' +} diff --git a/frontend/src/dto/Mapping.ts b/frontend/src/dto/Mapping.ts new file mode 100644 index 0000000..14e52c4 --- /dev/null +++ b/frontend/src/dto/Mapping.ts @@ -0,0 +1,34 @@ + +import Review from './Review' +import Comment from './Comment' +import Provenance from './Provenance' +import OntologyTerm from './OntologyTerm' + +export interface CreateMapping { + entityId:string + // ontologyTerms: { + // curie:string + // iri:string + // label:string + // status:string + // }[] + ontologyTerms:OntologyTerm[] +} + +export default interface Mapping { + id?:string + entityId:string + ontologyTerms: OntologyTerm[] + reviewed:boolean + status:MappingStatus + reviews:Review[] + comments:Comment[] + created: Provenance +} + +export enum MappingStatus { + AWAITING_REVIEW = 'AWAITING_REVIEW', + REVIEW_IN_PROGRESS = 'REVIEW_IN_PROGRESS', + REQUIRED_REVIEWS_REACHED = 'REQUIRED_REVIEWS_REACHED' +} + diff --git a/frontend/src/dto/MappingSuggestion.ts b/frontend/src/dto/MappingSuggestion.ts new file mode 100644 index 0000000..cfebb7e --- /dev/null +++ b/frontend/src/dto/MappingSuggestion.ts @@ -0,0 +1,9 @@ +import OntologyTerm from "./OntologyTerm"; +import Provenance from "./Provenance"; + +export default interface MappingSuggestion { + id:string + entityId:string + ontologyTerm: OntologyTerm + created: Provenance +} diff --git a/frontend/src/dto/OlsSearchResult.ts b/frontend/src/dto/OlsSearchResult.ts new file mode 100644 index 0000000..f6ba258 --- /dev/null +++ b/frontend/src/dto/OlsSearchResult.ts @@ -0,0 +1,16 @@ + +export default interface OlsResponse { + numFound:number + start:number + docs: OlsSearchResult[] +} + +export interface OlsSearchResult { + + iri:string + curie:string + label:string + description:string + ontologyName:string + +} diff --git a/frontend/src/dto/OntologyTerm.ts b/frontend/src/dto/OntologyTerm.ts new file mode 100644 index 0000000..76e85c5 --- /dev/null +++ b/frontend/src/dto/OntologyTerm.ts @@ -0,0 +1,27 @@ + +/* + +On creation: + +curie, iri and label are mandatory NOT EMPTY +In responses: + +status is auto-populated +*/ + +export default interface OntologyTerm { + curie:string + iri:string + label:string + status:OntologyTermStatus + description:string + crossRefs:string +} + +export enum OntologyTermStatus { + DELETED = 'DELETED', + OBSOLETE = 'OBSOLETE', + CURRENT = 'CURRENT', + NEEDS_IMPORT = 'NEEDS_IMPORT' +} + diff --git a/frontend/src/dto/Paginated.ts b/frontend/src/dto/Paginated.ts new file mode 100644 index 0000000..9525e85 --- /dev/null +++ b/frontend/src/dto/Paginated.ts @@ -0,0 +1,30 @@ + +export default interface Paginated { + content:T[] + number:number + size:number + totalElements:number + pageable: { + sort: { + sorted:boolean + unsorted:boolean + empty:boolean + } + offset:number + pageNumber:number + pageSize:number + paged:boolean + unpaged:boolean + } + totalPages:number + sort: { + sorted:boolean + unsorted:boolean + empty:boolean + } + first:boolean + last:boolean + numberOfElements:number + empty:boolean +} + diff --git a/frontend/src/dto/Project.ts b/frontend/src/dto/Project.ts new file mode 100644 index 0000000..1ce07ec --- /dev/null +++ b/frontend/src/dto/Project.ts @@ -0,0 +1,22 @@ + +/* +On creation: + +id is NOT ACCEPTED +name is mandatory NOT EMPTY +datasources and ontologies fields are list of ProjectMappingConfigDto. They enable field-level preferences for mappings. If general non-field-specific mapping is preferred / used, the value of field becomes a constant: ALL +In responses: + +id is NOT EMPTY +created follows a standard structure across all DTOs / objects +timestamp - always using the format: YYYY-MM-DDThh:mm:ss.ms+TZ +user - always containing name and email +*/ + +import Context from "./Context"; + +export default interface Project extends Context { + numberOfReviewsRequired:number + contexts:Context[] +} + diff --git a/frontend/src/dto/ProjectMappingConfig.ts b/frontend/src/dto/ProjectMappingConfig.ts new file mode 100644 index 0000000..1ac4c3a --- /dev/null +++ b/frontend/src/dto/ProjectMappingConfig.ts @@ -0,0 +1,10 @@ + +/* +Note: If general non-field-specific mapping is preferred / used, the value of field becomes a constant: ALL +*/ + +export default interface ProjectMappingConfig { + field:string + mappingList:string[] +} + diff --git a/frontend/src/dto/Provenance.ts b/frontend/src/dto/Provenance.ts new file mode 100644 index 0000000..4569039 --- /dev/null +++ b/frontend/src/dto/Provenance.ts @@ -0,0 +1,10 @@ + +export default interface Provenance { + user: { + name: string + email: string + }, + timestamp: string +} + + diff --git a/frontend/src/dto/Review.ts b/frontend/src/dto/Review.ts new file mode 100644 index 0000000..2f626a0 --- /dev/null +++ b/frontend/src/dto/Review.ts @@ -0,0 +1,6 @@ +import Provenance from "./Provenance"; + +export default interface Review { + comment:string + created: Provenance +} diff --git a/frontend/src/dto/Source.ts b/frontend/src/dto/Source.ts new file mode 100644 index 0000000..a5bef14 --- /dev/null +++ b/frontend/src/dto/Source.ts @@ -0,0 +1,25 @@ + +/* +On creation: + +id is NOT ACCEPTED +name is mandatory NOT EMPTY +In responses: + +id is NOT EMPTY +created and lastUpdated follow a standard structure across all DTOs / objects +timestamp - always using the format: YYYY-MM-DDThh:mm:ss.ms+TZ +user - always containing name and email +*/ + +import Provenance from "./Provenance"; + +export default interface Source { + id?:string + name:string + description:string + uri:string + type:'LOCAL'|'REMOTE' + created: Provenance + lastUpdated: Provenance +} diff --git a/frontend/src/dto/User.ts b/frontend/src/dto/User.ts new file mode 100644 index 0000000..54f169b --- /dev/null +++ b/frontend/src/dto/User.ts @@ -0,0 +1,11 @@ + +export default interface User { + id: string + name: string + email: string + roles: { + projectId: string + role:'CONTRIBUTOR'|'CONSUMER'|'ADMIN' + }[] +} + diff --git a/frontend/src/elixir_login_button.png b/frontend/src/elixir_login_button.png new file mode 100644 index 0000000000000000000000000000000000000000..836866fd2ef549779347d3e754c5ef0283aed387 GIT binary patch literal 62475 zcmeHQ2|SeB`yY|5EJ;b$&_agU&4^KUWnV&wF$JnBRHWrrl88tuWUDAyOB7Nl zl4x;Tq*aTG68`UuwV~T@ZvF2~m(M5O&U>EcocB53^L?K4oHOriH#ap9;GfSA0)YgK z40SDmzq^2cTD;uAZ&;FSJMf3k$IzYz0;$L|{&55x*IEw(@tcu#bj;1&DRc_Wo#G>F zq@yG2L#2?&oV_LCWqeMT#>2`$=v8*=B4< 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/dev/null +++ b/frontend/src/formatDate.ts @@ -0,0 +1,7 @@ + +import { formatRelative, parseISO } from 'date-fns' + +export default function formatDate(dateStr:string) { + return formatRelative(parseISO(dateStr), new Date()) +} + diff --git a/frontend/src/global.d.ts b/frontend/src/global.d.ts new file mode 100644 index 0000000..f4e0cc5 --- /dev/null +++ b/frontend/src/global.d.ts @@ -0,0 +1 @@ +declare module 'react-loading-overlay' \ No newline at end of file diff --git a/frontend/src/history.ts b/frontend/src/history.ts new file mode 100644 index 0000000..2724b5b --- /dev/null +++ b/frontend/src/history.ts @@ -0,0 +1,2 @@ +import { createBrowserHistory } from "history"; +export default createBrowserHistory(); diff --git a/frontend/src/index.css b/frontend/src/index.css new file mode 100644 index 0000000..ec2585e --- /dev/null +++ b/frontend/src/index.css @@ -0,0 +1,13 @@ +body { + margin: 0; + font-family: -apple-system, BlinkMacSystemFont, 'Segoe UI', 'Roboto', 'Oxygen', + 'Ubuntu', 'Cantarell', 'Fira Sans', 'Droid Sans', 'Helvetica Neue', + sans-serif; + -webkit-font-smoothing: antialiased; + -moz-osx-font-smoothing: grayscale; +} + +code { + font-family: source-code-pro, Menlo, Monaco, Consolas, 'Courier New', + monospace; +} diff --git a/frontend/src/index.tsx b/frontend/src/index.tsx new file mode 100644 index 0000000..ef2edf8 --- /dev/null +++ b/frontend/src/index.tsx @@ -0,0 +1,17 @@ +import React from 'react'; +import ReactDOM from 'react-dom'; +import './index.css'; +import App from './App'; +import reportWebVitals from './reportWebVitals'; + +ReactDOM.render( + + + , + document.getElementById('root') +); + +// If you want to start measuring performance in your app, pass a function +// to log results (for example: reportWebVitals(console.log)) +// or send to an analytics endpoint. Learn more: https://bit.ly/CRA-vitals +reportWebVitals(); diff --git a/frontend/src/logo.svg b/frontend/src/logo.svg new file mode 100644 index 0000000..9dfc1c0 --- /dev/null +++ b/frontend/src/logo.svg @@ -0,0 +1 @@ + \ No newline at end of file diff --git a/frontend/src/pages/Home.tsx b/frontend/src/pages/Home.tsx new file mode 100644 index 0000000..f6a3c94 --- /dev/null +++ b/frontend/src/pages/Home.tsx @@ -0,0 +1,29 @@ + + +import { Breadcrumbs, Link } from '@material-ui/core' +import React from 'react' +import { Redirect } from 'react-router-dom' +import { getToken, isLoggedIn } from '../auth' +import ProjectList from './projects/ProjectList' + +interface Props { +} + +export default function Home(props:Props) { + + if(!isLoggedIn()) { + return + } + + return
+ {/*
Logged in as {getToken().authEmail} with token {getToken().auth}
*/} + + + Projects + + +

Projects

+ +
+} + diff --git a/frontend/src/pages/Login.tsx b/frontend/src/pages/Login.tsx new file mode 100644 index 0000000..8340c0c --- /dev/null +++ b/frontend/src/pages/Login.tsx @@ -0,0 +1,190 @@ +import React, { Component } from 'react'; +import elixir_login_button from '../elixir_logo.png'; + +import Grid from '@material-ui/core/Grid'; +import ElixirAuthService from '../ElixirAuthService'; + +import { AuthConsumer } from '../auth-context'; + +import history from "../history"; +import { createStyles, Theme, Typography, WithStyles } from '@material-ui/core'; +import Link from '@material-ui/core/Link'; + +import PropTypes from 'prop-types'; +import { withStyles } from '@material-ui/core/styles'; + + +const AAP_URL = process.env.REACT_APP_AAPURL; + +const elixirRegisterationLink = "https://elixir-europe.org/register"; + +const elixirLoginContact = aai-contact@elixir-europe.org; + +const styles = (theme:Theme) => createStyles({ + linkColor: { + color: '#0000EE', + '&:visted': { + color: '#551A8B' + } + }, + span: { + fontWeight: 'bold', + }, + button: { + margin: theme.spacing(1), + color: '#333', + background: 'linear-gradient(to bottom, #E7F7F9 50%, #D3EFF3 100%)', + borderRadius: 4, + border: '1px solid #ccc', + fontWeight: 'bold', + textShadow: '0 1px 0 #fff', + width: 120, + height: 40, + }, +}) + +interface Props extends WithStyles { + isAuthenticated:boolean + onAuthenticate:(token:string)=>void + onLogout:()=>void +} + +class Login extends Component { + + ElixirAuthService:ElixirAuthService + + constructor(props:Props) { + super(props); + + this.ElixirAuthService = new ElixirAuthService(); + + // Check if token is still valid --> Check if working properly! + // if (this.ElixirAuthService.isTokenExpired(this.token)) { + // TODO: Add method to refresh token + // console.log("** Need to refresh token") + // } else { + // console.log("** Token is still valid") + // Set Auth Context + // this.props.onAuthenticate(this.ElixirAuthService.getToken()); + + // Redirect to Home page if token is still valid + // history.push("/"); + // } + // this.handleLogin = this.handleLogin.bind(this); + } + + + handleLogin = (event:any) => { + this.ElixirAuthService.login(); + + if (!this.messageIsAcceptable(event)) { + return; + } + + // Store JWT in local storage + const token = event.data; + this.ElixirAuthService.setToken(token); + + // Set Auth Context + this.props.onAuthenticate(token); + + // Close pop-up login window after token is received + if (event.source) { + ((window as any).event!.source).close(); + } + + // Redirect back to page that required a login + let referrer; + if (history.location.state && (history.location.state as any).from) { + referrer = `${process.env.PUBLIC_URL}` + (history.location.state as any).from; + } + + if (referrer) { + // history.push(referrer) + history.replace(`${process.env.PUBLIC_URL}` + (history.location.state as any).from, { + from: (history.location.state as any).from, + id: (history.location.state as any).id, + answer: (history.location.state as any).answer + }) + } else { + history.back() + } + } + + componentDidMount() { + window.addEventListener("message", this.handleLogin); + } + + componentWillUnmount() { + window.removeEventListener('message', this.handleLogin); + } + + /** + * Check if the message is coming from the same domain we use to generate + * the SSO URL, otherwise it's iffy and shouldn't trust it. + */ + messageIsAcceptable(event:any) { + return event.origin === AAP_URL; + } + + render() { + const { classes } = this.props; + + return ( + + + + Single Sign On using your ELIXIR identity! + + + + + + + + + + You can use the ELIXIR identity service and other ELIXIR services with the freely available + ELIXIR identity, which integrates with Google, ORCID and most academic institutions. + + Obtain your ELIXIR identity here. + + + + + + If you have problems logging in please contact {elixirLoginContact}. + + + + ) + } +} + +// Login.propTypes = { +// classes: PropTypes.object.isRequired, +// }; + +let LoginWithStyles = withStyles(styles)(Login); + +export default () => ( + + {(context) => ( + + )} + +) + diff --git a/frontend/src/pages/ProjectList.tsx b/frontend/src/pages/ProjectList.tsx new file mode 100644 index 0000000..6033956 --- /dev/null +++ b/frontend/src/pages/ProjectList.tsx @@ -0,0 +1,35 @@ + +import React from "react"; +import { useState, useEffect } from "react"; +import Project from "../dto/Project"; + +export interface Props { +} + +export interface State { + projects:Project[] +} + +export default class ProjectList extends React.Component { + + constructor(props:Props) { + + super(props) + + this.state = { + projects: [] + } + + this.fetchProjects() + + } + + render() { + return
+ } + + async fetchProjects() { + + + } +} diff --git a/frontend/src/pages/entities/EntityList.tsx b/frontend/src/pages/entities/EntityList.tsx new file mode 100644 index 0000000..e7c394c --- /dev/null +++ b/frontend/src/pages/entities/EntityList.tsx @@ -0,0 +1,235 @@ + +import { Button, CircularProgress, createStyles, darken, Input, InputAdornment, lighten, makeStyles, Paper, Table, TableBody, TableCell, TableContainer, TableHead, TableRow, TextField, Theme, WithStyles, withStyles } from "@material-ui/core"; +import SearchIcon from '@material-ui/icons/Search'; +import React, { ChangeEvent, Fragment } from "react"; +import { useState, useEffect } from "react"; +import { getAuthHeaders, getToken, isLoggedIn } from "../../auth"; +import Entity from "../../dto/Entity"; +import { Link, Redirect } from 'react-router-dom' +import DataTable from "react-data-table-component"; +import Paginated from "../../dto/Paginated"; +import MappingStatusBox from "../../components/MappingStatusBox"; +import EntityStatusBox from "../../components/EntityStatusBox"; + +const styles = (theme:Theme) => createStyles({ + tableRow: { + "&": { + cursor: 'pointer' + }, + "&:hover": { + backgroundColor: lighten(theme.palette.primary.light, 0.85) + } + } +}) + +interface Props extends WithStyles { + projectId:string + contextId:string +} + +interface State { + page:number + size:number + sortColumn:string + sortDirection:'asc'|'desc' + filter:string + loading:boolean + entities:Paginated|null + goToEntity:Entity|null +} + +class EntityList extends React.Component { + + constructor(props:Props) { + + super(props) + + this.state = { + page: 0, + size: 20, + sortColumn: '', + sortDirection: 'asc', + filter: '', + loading:true, + entities: null, + goToEntity: null + } + + + } + + componentDidMount() { + this.fetchEntities() + } + + columns: any[] = [ + { + name: 'Name', + selector: 'name', + sortable: true + }, + { + name: 'Mapping Status', + selector: 'mappingStatus', + sortable: true, + cell: (entity:Entity) => + }, + { + name: 'Mapping Term', + selector: 'mapping', + sortable: true, + cell: (entity:Entity) => renderEntityMappingTerm(entity) + }, + { + name: 'Mapping Label', + selector: 'mapping', + sortable: true, + cell: (entity:Entity) => renderEntityMappingLabel(entity) + }, + { + name: 'Source', + selector: 'source', + sortable: true, + ignoreRowClick: true, + cell: (entity:Entity) => {entity.source.name} + }, + // { + // name: 'Mapping Suggestions', + // selector: 'mappingSuggestions', + // sortable: true + // }, + // { + // name: 'Mapping', + // selector: 'mapping', + // sortable: true + // }, + // { + // // created + // } + ] + + render() { + + let { entities, goToEntity } = this.state + let { classes, projectId } = this.props + + // if(entities === null) { + // return + // } + + if(goToEntity !== null) { + return + } + + return + } onChange={this.onFilter} /> + } + /> + + } + + async fetchEntities() { + + let { projectId, contextId } = this.props + + let { page, size, sortColumn, sortDirection, filter } = this.state + + await this.setState(prevState => ({ ...prevState, loading: true })) + + let res = await fetch(`${process.env.REACT_APP_APIURL}/v1/projects/${projectId}/entities?${ + new URLSearchParams({ + context: contextId, + page: page.toString(), + size: size.toString(), + ...(sortColumn ? { sort: sortColumn + ',' + sortDirection } : {}), + filter: filter + }) + }`, { + headers: { ...getAuthHeaders() } + }) + + let entities:Paginated = await res.json() + + this.setState(prevState => ({ ...prevState, entities, loading: false })) + } + + onClickEntity = async (entity:Entity) => { + this.setState(prevState => ({ ...prevState, goToEntity: entity })) + } + + onChangePage = async (page:number) => { + await this.setState(prevState => ({ ...prevState, page: page-1 })) + this.fetchEntities() + } + + onChangeRowsPerPage = async (rowsPerPage:number) => { + await this.setState(prevState => ({ ...prevState, size: rowsPerPage })) + this.fetchEntities() + } + + onSort = async (column: any, sortDirection:'asc'|'desc') => { + await this.setState(prevState => ({ ...prevState, sortColumn: column.selector, sortDirection })) + this.fetchEntities() + } + + onFilter = async (e:ChangeEvent) => { + await this.setState(prevState => ({ ...prevState, filter: e.target.value })) + this.fetchEntities() + } + + // onCreateEntity = async (entity:Entity) => { + + // let res = await fetch(process.env.REACT_APP_APIURL + '/v1/entities', { + // method: 'POST', + // headers: { ...getAuthHeaders(), 'content-type': 'application/json' }, + // body: JSON.stringify(entity) + // }) + + // if(res.status === 201) { + // this.fetchEntities() + // } else { + // console.log('Error creating entities: ' + res.statusText) + // } + // } +} + +export default withStyles(styles)(EntityList) + + +function renderEntityMappingTerm(entity:Entity) { + + let { mapping } = entity + + if(!mapping) + return '' + + return mapping.ontologyTerms.map(term =>
{term.curie}
) +} + +function renderEntityMappingLabel(entity:Entity) { + + let { mapping } = entity + + if(!mapping) + return '' + + return mapping.ontologyTerms.map(term =>
{term.label}
) +} + diff --git a/frontend/src/pages/entities/EntityPage.tsx b/frontend/src/pages/entities/EntityPage.tsx new file mode 100644 index 0000000..8d8d7ad --- /dev/null +++ b/frontend/src/pages/entities/EntityPage.tsx @@ -0,0 +1,167 @@ + +import { Box, Breadcrumbs, Button, CircularProgress, Grid, Link, Paper, TextField, Typography } from "@material-ui/core"; +import { Search, Add } from '@material-ui/icons' +import React from "react"; +import { Redirect } from "react-router-dom"; +import { post, get, put } from "../../api"; +import { getAuthHeaders, isLoggedIn } from "../../auth"; +import AuditTrail from "../../components/AuditTrail"; +import EntityStatusBox from "../../components/EntityStatusBox"; +import MappingStatusBox from "../../components/MappingStatusBox"; +import Entity from "../../dto/Entity"; +import Mapping, { CreateMapping, MappingStatus } from "../../dto/Mapping"; +import MappingSuggestion from "../../dto/MappingSuggestion"; +import OntologyTerm from "../../dto/OntologyTerm"; +import Project from "../../dto/Project"; +import MappingSuggestionList from "./MappingSuggestionList"; +import MappingTermList from "./MappingTermList"; +import { Link as RouterLink } from 'react-router-dom' + +interface Props { + projectId:string + entityId:string +} + +interface State { + project:Project|null + entity:Entity|null + saving:boolean +} + +export default class EntityPage extends React.Component { + + constructor(props:Props) { + super(props) + + this.state = { + entity: null, + project: null, + saving: false + } + } + + componentDidMount() { + this.fetch() + } + + render() { + + let { project, entity, saving } = this.state + + if (!isLoggedIn()) { + return + } + + if(!project || !entity) { + return + } + + return
+ + + Projects + + + {project.name} + + + Entities + + {entity.name} + +

{entity.name}

+ {/*

Mappings

+ */} +

Suggested Mappings

+ +
+ +   +   + + +

History

+ +
+ } + + async fetch() { + + let { projectId, entityId } = this.props + + //await this.setState(prevState => ({ ...prevState, project: null, entity: null })) + + let [ project, entity ] = await Promise.all([ + get(`/v1/projects/${projectId}`), + get(`/v1/projects/${projectId}/entities/${entityId}`) + ]) + + this.setState(prevState => ({ ...prevState, project, entity })) + } + + onClickSuggestion = (suggestion:MappingSuggestion) => { + + let entity = this.state.entity! + + let term = suggestion.ontologyTerm + + if(entity.mapping) { + + let wasSelected = entity.mapping.ontologyTerms.filter(t => t.iri === term.iri).length > 0 + + if(wasSelected) { + + this.updateMapping({ + ...entity.mapping, + ontologyTerms: entity.mapping.ontologyTerms.filter(t => t.iri !== term.iri) + }) + + } else { + + this.updateMapping({ + ...entity.mapping, + ontologyTerms: [ + ...entity.mapping.ontologyTerms, + suggestion.ontologyTerm + ] + }) + + } + + } else { + + this.createMapping({ + entityId: entity.id, + ontologyTerms: [ + suggestion.ontologyTerm + ] + }) + + } + + + } + + private async createMapping(mapping:CreateMapping) { + + let { projectId, entityId } = this.props + + await this.setState(prevState => ({ ...prevState, saving: true })) + await post(`/v1/projects/${projectId}/mappings`, mapping) + await this.fetch() + await this.setState(prevState => ({ ...prevState, saving: false })) + } + + private async updateMapping(mapping:Mapping) { + + let { projectId, entityId } = this.props + + await this.setState(prevState => ({ ...prevState, saving: true })) + await put(`/v1/projects/${projectId}/mappings/${mapping.id}`, mapping) + await this.fetch() + await this.setState(prevState => ({ ...prevState, saving: false })) + } + + onRemoveMappingTerm = (term:OntologyTerm) => { + } +} diff --git a/frontend/src/pages/entities/MappingSuggestionList.tsx b/frontend/src/pages/entities/MappingSuggestionList.tsx new file mode 100644 index 0000000..6404ab2 --- /dev/null +++ b/frontend/src/pages/entities/MappingSuggestionList.tsx @@ -0,0 +1,109 @@ + +import { Checkbox, createStyles, lighten, Paper, Table, TableBody, TableCell, TableContainer, TableHead, TableRow, Theme, WithStyles, withStyles } from "@material-ui/core" +import React from "react" +import LoadingOverlay from "../../components/LoadingOverlay" +import TermStatusBox from "../../components/TermStatusBox" +import Entity from "../../dto/Entity" +import Mapping, { CreateMapping } from "../../dto/Mapping" +import MappingSuggestion from "../../dto/MappingSuggestion" +import Project from "../../dto/Project" + +const styles = (theme:Theme) => createStyles({ + tableRow: { + "&": { + cursor: 'pointer' + }, + "&:hover": { + backgroundColor: lighten(theme.palette.primary.light, 0.85) + } + } +}) + +interface Props extends WithStyles { + project:Project + entity:Entity + saving:boolean + + onClickSuggestion:(suggestion:MappingSuggestion)=>void +} + +interface State { +} + +class MappingSuggestionList extends React.Component { + + constructor(props:Props) { + super(props) + + this.state = { + } + } + + render() { + + let { classes, project, entity, saving } = this.props + + return + + + + + + Term + Term Label + Term Status + {/* Suggested By + Term Status */} + + + + + {entity.mappingSuggestions.map((suggestion:MappingSuggestion) => { + + let term = suggestion.ontologyTerm + + let selected = entity.mapping && + entity.mapping.ontologyTerms.filter(t => t.iri === term.iri).length > 0 + + return this.onClickSuggestion(suggestion)} + className={classes.tableRow} + key={project.name}> + + + + + {term.curie} + + + {term.label} + + + + + + })} + + {/* + + + + */} + +
+ + + + } + + + onClickSuggestion = (suggestion:MappingSuggestion) => { + + this.props.onClickSuggestion(suggestion) + + } + +} + +export default withStyles(styles)(MappingSuggestionList) diff --git a/frontend/src/pages/entities/MappingTermList.tsx b/frontend/src/pages/entities/MappingTermList.tsx new file mode 100644 index 0000000..76d0e73 --- /dev/null +++ b/frontend/src/pages/entities/MappingTermList.tsx @@ -0,0 +1,101 @@ + +import { Checkbox, createStyles, lighten, Paper, Table, TableBody, TableCell, TableContainer, TableHead, TableRow, Theme, WithStyles, withStyles } from "@material-ui/core" +import React from "react" +import TermStatusBox from "../../components/TermStatusBox" +import Entity from "../../dto/Entity" +import Mapping, { CreateMapping } from "../../dto/Mapping" +import MappingSuggestion from "../../dto/MappingSuggestion" +import OntologyTerm from "../../dto/OntologyTerm" +import Project from "../../dto/Project" + +const styles = (theme:Theme) => createStyles({ + tableRow: { + "&": { + cursor: 'pointer' + }, + "&:hover": { + backgroundColor: lighten(theme.palette.primary.light, 0.85) + } + } +}) + +interface Props extends WithStyles { + project:Project + entity:Entity + + onRemoveMappingTerm:(term:OntologyTerm)=>void +} + +interface State { +} + +class MappingTermList extends React.Component { + + constructor(props:Props) { + super(props) + + this.state = { + } + } + + render() { + + let { classes, project, entity } = this.props + + return + + + + + Term + Term Label + Term Status + {/* Suggested By + Term Status */} + + + + + {entity.mapping && entity.mapping.ontologyTerms.map((term:OntologyTerm) => { + + return this.props.onRemoveMappingTerm(term)} + className={classes.tableRow} + key={project.name}> + + x + + + {term.curie} + + + {term.label} + + + + + + })} + + {/* + + + + */} + +
+ + + } + + + onClickSuggestion = (term:OntologyTerm) => { + + this.props.onRemoveMappingTerm(term) + + } + +} + +export default withStyles(styles)(MappingTermList) diff --git a/frontend/src/pages/entities/OntologyTermSearchBox.tsx b/frontend/src/pages/entities/OntologyTermSearchBox.tsx new file mode 100644 index 0000000..2ad6b74 --- /dev/null +++ b/frontend/src/pages/entities/OntologyTermSearchBox.tsx @@ -0,0 +1,80 @@ + + +import React from 'react'; +import TextField from '@material-ui/core/TextField'; +import Autocomplete from '@material-ui/lab/Autocomplete'; +import CircularProgress from '@material-ui/core/CircularProgress'; +import { get } from '../../api'; +import OlsResponse, { OlsSearchResult } from '../../dto/OlsSearchResult'; + +export default function OntologyTermSearchBox(projectId:string) { + const [open, setOpen] = React.useState(false); + const [options, setOptions] = React.useState([]); + const loading = open && options.length === 0; + + React.useEffect(() => { + let active = true; + + if (!loading) { + return undefined; + } + + (async () => { + + const res:OlsResponse = await get(`/v1/projects/${projectId}/searchOLS?${ + new URLSearchParams({ + query: '' + })}`) + + console.dir(res) + + if (active) { + setOptions(res.docs) + } + })(); + + return () => { + active = false; + }; + }, [loading]); + + React.useEffect(() => { + if (!open) { + setOptions([]); + } + }, [open]); + + return ( + { + setOpen(true); + }} + onClose={() => { + setOpen(false); + }} + getOptionSelected={(option:OlsSearchResult, value:OlsSearchResult) => option.iri === value.iri} + getOptionLabel={(option:OlsSearchResult) => option.iri} + options={options} + loading={loading} + renderInput={(params) => ( + + {loading ? : null} + {params.InputProps.endAdornment} + + ), + }} + /> + )} + /> + ); +} \ No newline at end of file diff --git a/frontend/src/pages/projects/ContextForm.tsx b/frontend/src/pages/projects/ContextForm.tsx new file mode 100644 index 0000000..5daf6b6 --- /dev/null +++ b/frontend/src/pages/projects/ContextForm.tsx @@ -0,0 +1,51 @@ + +import { Button, CircularProgress, createStyles, darken, FormGroup, Grid, lighten, makeStyles, Paper, Table, TableBody, TableCell, TableContainer, TableHead, TableRow, TextField, Theme, WithStyles, withStyles } from "@material-ui/core"; +import React, { ChangeEvent } from "react"; +import { useState, useEffect } from "react"; +import { getAuthHeaders, getToken, isLoggedIn } from "../../auth"; +import Context from "../../dto/Context"; + +interface Props { + context:Context + onUpdateContext:(context:Context)=>void +} + +interface State { +} + +class ContextForm extends React.Component { + + constructor(props:Props) { + + super(props) + + } + + render() { + + return
+ + + + + + + + + + +
+ } + + onChangeName = (e:ChangeEvent) => { + this.props.onUpdateContext({ ...this.props.context, name: e.target.value }) + } + + onChangeDescription = (e:ChangeEvent) => { + this.props.onUpdateContext({ ...this.props.context, description: e.target.value }) + } + +} + +export default ContextForm + diff --git a/frontend/src/pages/projects/CreateContextDialog.tsx b/frontend/src/pages/projects/CreateContextDialog.tsx new file mode 100644 index 0000000..f6f04c7 --- /dev/null +++ b/frontend/src/pages/projects/CreateContextDialog.tsx @@ -0,0 +1,94 @@ + +import { Box, Button, CircularProgress, createStyles, darken, Dialog, DialogActions, DialogContent, DialogContentText, DialogTitle, lighten, makeStyles, Paper, Table, TableBody, TableCell, TableContainer, TableHead, TableRow, TextField, Theme, WithStyles, withStyles } from "@material-ui/core"; +import React, { Fragment } from "react"; +import { useState, useEffect } from "react"; +import { getAuthHeaders, getToken, isLoggedIn } from "../../auth"; +import Context from "../../dto/Context"; +import ContextForm from "./ContextForm"; + +interface Props { + onCreate:(context:Context)=>void + onClose:()=>void +} + +interface State { + context:Context +} + +class CreateContextDialog extends React.Component { + + constructor(props:Props) { + + super(props) + + this.state = { + context: emptyContext() + } + + } + + render() { + + let { context } = this.state + + console.dir(context) + + return + Create Context + + + Please enter a name and description for the context. + + + + + + + + + + + } + + onClose = () => { + this.props.onClose() + } + + onUpdateContext = (context:Context) => { + this.setState(prevState => ({ ...prevState, context })) + } + + onCreate = () => { + this.props.onCreate(this.state.context) + this.setState(prevState => ({ ...prevState, open: false })) + } +} + +export default CreateContextDialog + + +function emptyContext() { + return { + name: '', + description: '', + datasources: [], + ontologies: [], + preferredMappingOntologies: [], + contexts: [], + numberOfReviewsRequired: 0, + created: { + user: { + email: '', + name: '' + }, + timestamp: '' + } + + } +} + + diff --git a/frontend/src/pages/projects/CreateProjectDialog.tsx b/frontend/src/pages/projects/CreateProjectDialog.tsx new file mode 100644 index 0000000..fdfcb8f --- /dev/null +++ b/frontend/src/pages/projects/CreateProjectDialog.tsx @@ -0,0 +1,105 @@ + +import { Box, Button, CircularProgress, createStyles, darken, Dialog, DialogActions, DialogContent, DialogContentText, DialogTitle, lighten, makeStyles, Paper, Table, TableBody, TableCell, TableContainer, TableHead, TableRow, TextField, Theme, WithStyles, withStyles } from "@material-ui/core"; +import React, { Fragment } from "react"; +import { useState, useEffect } from "react"; +import { getAuthHeaders, getToken, isLoggedIn } from "../../auth"; +import Project from "../../dto/Project"; +import ProjectForm from "./ProjectForm"; +import ProjectList from "./ProjectList"; + +interface Props { + onCreate:(project:Project)=>void +} + +interface State { + open:boolean + project:Project +} + +class CreateProjectDialog extends React.Component { + + constructor(props:Props) { + + super(props) + + this.state = { + open: false, + project: emptyProject() + } + + } + + render() { + + let { open, project } = this.state + + console.dir(project) + + return
+ + + Create Project + + + Please enter a name and description for the project. + + + + + + + + + + +
+ } + + onOpen = () => { + this.setState(prevState => ({ ...prevState, open: true, project: emptyProject() })) + } + + onClose = () => { + this.setState(prevState => ({ ...prevState, open: false })) + } + + onUpdateProject = (project:Project) => { + this.setState(prevState => ({ ...prevState, project })) + } + + onCreate = () => { + this.props.onCreate(this.state.project) + this.setState(prevState => ({ ...prevState, open: false })) + } +} + +export default CreateProjectDialog + + +function emptyProject() { + return { + name: '', + description: '', + datasources: [], + ontologies: [], + preferredMappingOntologies: [], + contexts: [], + numberOfReviewsRequired: 0, + created: { + user: { + email: '', + name: '' + }, + timestamp: '' + } + + } +} + + diff --git a/frontend/src/pages/projects/ProjectForm.tsx b/frontend/src/pages/projects/ProjectForm.tsx new file mode 100644 index 0000000..28fca88 --- /dev/null +++ b/frontend/src/pages/projects/ProjectForm.tsx @@ -0,0 +1,52 @@ + +import { Button, CircularProgress, createStyles, darken, FormGroup, Grid, lighten, makeStyles, Paper, Table, TableBody, TableCell, TableContainer, TableHead, TableRow, TextField, Theme, WithStyles, withStyles } from "@material-ui/core"; +import React, { ChangeEvent } from "react"; +import { useState, useEffect } from "react"; +import { getAuthHeaders, getToken, isLoggedIn } from "../../auth"; +import Project from "../../dto/Project"; +import ProjectList from "./ProjectList"; + +interface Props { + project:Project + onUpdateProject:(project:Project)=>void +} + +interface State { +} + +class ProjectForm extends React.Component { + + constructor(props:Props) { + + super(props) + + } + + render() { + + return
+ + + + + + + + + + +
+ } + + onChangeName = (e:ChangeEvent) => { + this.props.onUpdateProject({ ...this.props.project, name: e.target.value }) + } + + onChangeDescription = (e:ChangeEvent) => { + this.props.onUpdateProject({ ...this.props.project, description: e.target.value }) + } + +} + +export default ProjectForm + diff --git a/frontend/src/pages/projects/ProjectList.tsx b/frontend/src/pages/projects/ProjectList.tsx new file mode 100644 index 0000000..1864764 --- /dev/null +++ b/frontend/src/pages/projects/ProjectList.tsx @@ -0,0 +1,132 @@ + +import { Button, CircularProgress, createStyles, darken, lighten, makeStyles, Paper, Table, TableBody, TableCell, TableContainer, TableHead, TableRow, Theme, WithStyles, withStyles } from "@material-ui/core"; +import React from "react"; +import { useState, useEffect } from "react"; +import { getAuthHeaders, getToken, isLoggedIn } from "../../auth"; +import Project from "../../dto/Project"; +import CreateProjectDialog from "./CreateProjectDialog"; +import { Link, Redirect } from 'react-router-dom' +import formatDate from "../../formatDate"; + +const styles = (theme:Theme) => createStyles({ + tableRow: { + "&": { + cursor: 'pointer' + }, + "&:hover": { + backgroundColor: lighten(theme.palette.primary.light, 0.85) + } + } +}) + +interface Props extends WithStyles { +} + +interface State { + projects:Project[]|null + goToProject:Project|null +} + +class ProjectList extends React.Component { + + constructor(props:Props) { + + super(props) + + this.state = { + projects: null, + goToProject: null + } + + + } + + componentDidMount() { + this.fetchProjects() + } + + render() { + + let { projects, goToProject } = this.state + let { classes } = this.props + + if(projects === null) { + return + } + + if(goToProject !== null) { + return + } + + return + + + + Name + Description + Created by + Created + + + + {projects.map((project:Project) => ( + this.onClickProject(project)} className={classes.tableRow} key={project.name}> + + {project.name} + + + {project.description} + + + {project.created!.user.name} + + + {formatDate(project.created!.timestamp)} + + + ))} + + + + + + +
+ + } + + async fetchProjects() { + + await this.setState(prevState => ({ ...prevState, projects: null })) + + let res = await fetch(process.env.REACT_APP_APIURL + '/v1/projects', { + headers: { ...getAuthHeaders() } + }) + + let projects = await res.json() + + this.setState(prevState => ({ ...prevState, projects })) + } + + onClickProject = async (project:Project) => { + this.setState(prevState => ({ ...prevState, goToProject: project })) + } + + onCreateProject = async (project:Project) => { + + let res = await fetch(process.env.REACT_APP_APIURL + '/v1/projects', { + method: 'POST', + headers: { ...getAuthHeaders(), 'content-type': 'application/json' }, + body: JSON.stringify(project) + }) + + if(res.status === 201) { + this.fetchProjects() + } else { + console.log('Error creating projects: ' + res.statusText) + } + } +} + +export default withStyles(styles)(ProjectList) + diff --git a/frontend/src/pages/projects/ProjectPage.tsx b/frontend/src/pages/projects/ProjectPage.tsx new file mode 100644 index 0000000..28431bc --- /dev/null +++ b/frontend/src/pages/projects/ProjectPage.tsx @@ -0,0 +1,120 @@ + +import { AppBar, Breadcrumbs, CircularProgress, Link, Paper, Tab, Tabs, Typography } from "@material-ui/core"; +import React from "react"; +import { Redirect } from "react-router-dom"; +import { get, post } from "../../api"; +import { getAuthHeaders, isLoggedIn } from "../../auth"; +import Provenance from "../../components/Provenance"; +import Context from "../../dto/Context"; +import Project from "../../dto/Project"; +import EntityList from "../entities/EntityList"; +import CreateContextDialog from "./CreateContextDialog"; +import { Link as RouterLink } from 'react-router-dom' + +interface Props { + id:string +} + +interface State { + project:Project|null + context:Context|null, + showCreateContextDialog: boolean +} + +export default class ProjectPage extends React.Component { + + constructor(props:Props) { + super(props) + + this.state = { + project: null, + context: null, + showCreateContextDialog: false + } + } + + componentDidMount() { + this.fetchProject() + } + + render() { + + let { project, context, showCreateContextDialog } = this.state + + if (!isLoggedIn()) { + return + } + + if(project === null || context === null) { + return + } + + return
+ { showCreateContextDialog && } + + + Projects + + {project.name} + + { project.created && } +

{project.name}

+ {project.description} +
+ {/* */} + + {project.contexts.map(c => this.setContext(c)} />)} + + + {/* */} +

Entities

+ +
+ } + + async fetchProject() { + + let { id } = this.props + + let project = await get(`/v1/projects/${id}`) + + let context = project.contexts.filter(c => c.name === 'DEFAULT')[0] + + if(this.state.context) { + let currentContextName = this.state.context.name + let currentContext = project.contexts.filter(c => c.name === currentContextName)[0] + if(currentContext) { + context = currentContext + } + } + this.setState(prevState => ({ ...prevState, project, context })) + } + + newContext = () => { + this.setState(prevState => ({ ...prevState, showCreateContextDialog: true })) + } + + createContext = async (context:Context) => { + + let { id } = this.props + + await post(`/v1/projects/${id}/contexts`, context) + + this.fetchProject() + + this.setState(prevState => ({ ...prevState, showCreateContextDialog: false })) + } + + closeCreateContext = () => { + this.setState(prevState => ({ ...prevState, showCreateContextDialog: false })) + } + + setContext = (context:Context) => { + this.setState(prevState => ({ ...prevState, context })) + } +} diff --git a/frontend/src/react-app-env.d.ts b/frontend/src/react-app-env.d.ts new file mode 100644 index 0000000..6431bc5 --- /dev/null +++ b/frontend/src/react-app-env.d.ts @@ -0,0 +1 @@ +/// diff --git a/frontend/src/reportWebVitals.ts b/frontend/src/reportWebVitals.ts new file mode 100644 index 0000000..49a2a16 --- /dev/null +++ b/frontend/src/reportWebVitals.ts @@ -0,0 +1,15 @@ +import { ReportHandler } from 'web-vitals'; + +const reportWebVitals = (onPerfEntry?: ReportHandler) => { + if (onPerfEntry && onPerfEntry instanceof Function) { + import('web-vitals').then(({ getCLS, getFID, getFCP, getLCP, getTTFB }) => { + getCLS(onPerfEntry); + getFID(onPerfEntry); + getFCP(onPerfEntry); + getLCP(onPerfEntry); + getTTFB(onPerfEntry); + }); + } +}; + +export default reportWebVitals; diff --git a/frontend/src/setupTests.ts b/frontend/src/setupTests.ts new file mode 100644 index 0000000..8f2609b --- /dev/null +++ b/frontend/src/setupTests.ts @@ -0,0 +1,5 @@ +// jest-dom adds custom jest matchers for asserting on DOM nodes. +// allows you to do things like: +// expect(element).toHaveTextContent(/react/i) +// learn more: https://github.com/testing-library/jest-dom +import '@testing-library/jest-dom'; diff --git a/frontend/tsconfig.json b/frontend/tsconfig.json new file mode 100644 index 0000000..a273b0c --- /dev/null +++ b/frontend/tsconfig.json @@ -0,0 +1,26 @@ +{ + "compilerOptions": { + "target": "es5", + "lib": [ + "dom", + "dom.iterable", + "esnext" + ], + "allowJs": true, + "skipLibCheck": true, + "esModuleInterop": true, + "allowSyntheticDefaultImports": true, + "strict": true, + "forceConsistentCasingInFileNames": true, + "noFallthroughCasesInSwitch": true, + "module": "esnext", + "moduleResolution": "node", + "resolveJsonModule": true, + "isolatedModules": true, + "noEmit": true, + "jsx": "react-jsx" + }, + "include": [ + "src" + ] +} diff --git a/frontend/yarn.lock b/frontend/yarn.lock new file mode 100644 index 0000000..798387e --- /dev/null +++ b/frontend/yarn.lock @@ -0,0 +1,12414 @@ +# THIS IS AN AUTOGENERATED FILE. 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"cliui" "^6.0.0" + "decamelize" "^1.2.0" + "find-up" "^4.1.0" + "get-caller-file" "^2.0.1" + "require-directory" "^2.1.1" + "require-main-filename" "^2.0.0" + "set-blocking" "^2.0.0" + "string-width" "^4.2.0" + "which-module" "^2.0.0" + "y18n" "^4.0.0" + "yargs-parser" "^18.1.2" + +"yocto-queue@^0.1.0": + "integrity" "sha512-rVksvsnNCdJ/ohGc6xgPwyN8eheCxsiLM8mxuE/t/mOVqJewPuO1miLpTHQiRgTKCLexL4MeAFVagts7HmNZ2Q==" + "resolved" "https://registry.npmjs.org/yocto-queue/-/yocto-queue-0.1.0.tgz" + "version" "0.1.0" From dba79320c6c953015cdc3290c14c92e294fb199a Mon Sep 17 00:00:00 2001 From: Tudor Groza Date: Sat, 10 Apr 2021 11:26:46 +0800 Subject: [PATCH 72/72] Fixed filter parameter name. --- .../spot/ontotools/curation/constants/CurationConstants.java | 2 +- .../ontotools/curation/rest/controller/EntityController.java | 2 +- .../ontotools/curation/rest/controller/UsersController.java | 2 +- .../ac/ebi/spot/ontotools/curation/EntityControllerTest.java | 4 ++-- 4 files changed, 5 insertions(+), 5 deletions(-) diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java index a3b877e..60e50d2 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/constants/CurationConstants.java @@ -34,7 +34,7 @@ public class CurationConstants { public static final String PARAM_ENTITY_ID = "entityId"; - public static final String PARAM_SEARCH = "search"; + public static final String PARAM_FILTER = "filter"; public static final String PARAM_CONTEXT = "context"; diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java index 7863e2c..6aabdcf 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/EntityController.java @@ -63,7 +63,7 @@ public class EntityController { produces = MediaType.APPLICATION_JSON_VALUE) @ResponseStatus(HttpStatus.OK) public RestResponsePage getEntities(@PathVariable String projectId, - @RequestParam(value = CurationConstants.PARAM_SEARCH, required = false) String prefix, + @RequestParam(value = CurationConstants.PARAM_FILTER, required = false) String prefix, @RequestParam(value = CurationConstants.PARAM_CONTEXT, required = false) String context, @PageableDefault(size = 20, page = 0) Pageable pageable, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); diff --git a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/UsersController.java b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/UsersController.java index 01a2c4b..28a4e45 100644 --- a/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/UsersController.java +++ b/src/main/java/uk/ac/ebi/spot/ontotools/curation/rest/controller/UsersController.java @@ -43,7 +43,7 @@ public class UsersController { */ @GetMapping(produces = MediaType.APPLICATION_JSON_VALUE) @ResponseStatus(HttpStatus.OK) - public RestResponsePage getUsers(@RequestParam(value = CurationConstants.PARAM_SEARCH, required = false) String prefix, + public RestResponsePage getUsers(@RequestParam(value = CurationConstants.PARAM_FILTER, required = false) String prefix, @PageableDefault(size = 20, page = 0) Pageable pageable, HttpServletRequest request) { User user = jwtService.extractUser(HeadersUtil.extractJWT(request)); diff --git a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java index f463d33..3fa937b 100644 --- a/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java +++ b/src/test/java/uk/ac/ebi/spot/ontotools/curation/EntityControllerTest.java @@ -108,7 +108,7 @@ public void shouldGetEntitiesByPrefixSearch() throws Exception { String prefix = "chon"; String endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_ENTITIES + - "?" + CurationConstants.PARAM_SEARCH + "=" + prefix; + "?" + CurationConstants.PARAM_FILTER + "=" + prefix; String response = mockMvc.perform(get(endpoint) .contentType(MediaType.APPLICATION_JSON) .header(IDPConstants.JWT_TOKEN, "token1")) @@ -123,7 +123,7 @@ public void shouldGetEntitiesByPrefixSearch() throws Exception { prefix = "achond"; endpoint = GeneralCommon.API_V1 + CurationConstants.API_PROJECTS + "/" + project.getId() + CurationConstants.API_ENTITIES + - "?" + CurationConstants.PARAM_SEARCH + "=" + prefix; + "?" + CurationConstants.PARAM_FILTER + "=" + prefix; response = mockMvc.perform(get(endpoint) .contentType(MediaType.APPLICATION_JSON) .header(IDPConstants.JWT_TOKEN, "token1"))

+ + {label} {provenance.user.name} {when} + +